id subject predicate object category agent_type has_attribute knowledge_level negated object_aspect_qualifier onset_qualifier primary_knowledge_source publications uuid:941c147e-46f6-47de-8d12-108847c8c589 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c6ea034c-7954-4256-82dd-5e5d291da724 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b61c7b64-a10b-44bf-9b04-12a8b890f5a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b09ee2ed-f8fe-4909-801b-843375f4be9d phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8067ab7-69ee-4aa7-a6b0-6c3e728bcf95 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:162cc395-a72d-4030-b1ce-48bf69cd6396 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9fe8c9c6-d4f8-4902-8e65-a6541fb57728 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:917b3702-27e6-4e16-bf9f-f09c9c476770 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a0942961-04bf-4ec9-92f7-78fd4bf22b65 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1c06cbce-aedd-4e8d-96b5-c0f2bea980c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42ef51f6-f755-42c7-abcb-c82a0eb652cb phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af31db1b-3ec1-4410-a10e-792bf31ecbde phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e5f232c-f3b1-4f36-b068-9264fbce64d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08e2e61c-89b5-4049-b81f-6593bea888bb phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1d032f4-389d-4617-bffb-25b4c9fd3185 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0f613bb-548c-4ec5-9602-6b55984eaeab phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2770e7da-f308-4edb-8fcc-19c803b359b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9040efa6-5b41-4452-af09-ed9c1ee46275 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d45c1e3a-1579-444b-842b-9d40c5c5c04c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e51ffc4-f2d5-47ea-b7a3-908d0e10029b phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30c5e1f5-53f5-43d1-9ea2-be59e817f915 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a3461ff-0030-4449-906e-aca3fcd8e10a phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4de5233-0138-4f60-ae26-2f83e2b2f3d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e9eacd8-73ad-4bc1-bad5-f7203549fdcc phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b47a851-623b-4633-abcb-82201f648b37 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3a5df95-10d0-46f3-8d85-41dbd3b5153c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:677c2059-5293-4495-be9f-91862bc1dc12 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f498592-60d0-463a-80f5-bed1ee466a7c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe7bd843-abee-414c-b67d-9790c46d1f80 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddae734e-fc84-46e9-9267-c60e60916603 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:597fd270-6350-461d-b164-cc09091f27e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:559eb4b6-3bd7-4758-88bc-e4068370f3c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72d862b7-fabd-48d4-990d-030acfc4d929 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c02a81f3-ac85-4040-ae3a-675144559511 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2265332a-4a99-4308-a68c-ab3897d14046 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89ed159d-ee8d-46d7-8892-d4f95d7d905c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09518315-0c4a-40c4-9c29-d3895c2a504d phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9450df78-5b45-4387-a9ca-6f4e26a3f1db phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa5a89e7-307b-4f30-a6a2-3f065b3b42cf phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:327aad84-977f-4235-8479-526cb27d3d2a phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cb94c71-1616-4003-a2dc-f182596547c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4c2444b-4e9b-4624-a9b2-0f9836e05acf phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9787a605-3ad9-422c-87e4-acba29257396 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28d265b0-88b7-45a2-b446-2fb68256fa87 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4bebb15-2ff3-4aa8-af78-06a6a493fe1c phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:784ae15c-d956-4196-9f67-ca2de66754d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d84c3ce5-6ab5-4e05-a1f4-809c98056ed0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5ef607c-fb50-4e12-a19d-874ff56ab9fa phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a620b801-3ec3-4b21-8587-c945db0b2ed6 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ea8aed4-3822-4e32-b5ee-88f07c52a0b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0948c08c-21dd-41eb-a5ba-b67cd0d5d687 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8f87553-aa08-49a5-be44-4f9d34ae7ead phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47da42ed-b252-42ff-a836-2435a0f9ef42 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96b37fe8-1210-4a41-8d1d-f668f76af9b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d33c593-fce3-4c94-86de-7abaa7ac9b29 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18cbf8c2-b045-43b3-b729-f5fa07ef434a phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:390c1069-8201-4544-80b1-ca4a438b33ac phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:41a13f96-dcc2-4026-9ec8-ae5835f7dafe phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7683136a-d0f4-4fc6-ab13-4daa93aa4d49 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2149c56-276a-4636-a28a-c825c626f4a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba70e558-fc18-4f06-a684-503d883c2a52 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d8c820b-6078-4066-91c4-13015804f1fc phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f889dbf7-0e1a-4284-bde7-a60a2a1e43f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36f8edd3-9b5d-4743-b7f9-02c31a3c47ab phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c00cccf-d024-403c-aa35-22a52dc14cf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0667213b-1f95-484b-9f7f-abd9800063e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aab992db-80f0-4567-bba3-d988aa99d798 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:63618d51-d17b-4d8b-96ee-9324579b955a phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b7ebf378-54c3-48b4-8148-b49ccd82b144 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:50453116-f215-4770-a0df-df243dac0fb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6ce3b65-58bf-4eee-99e3-34f5829b25fe phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:08d53455-44a4-4205-862b-bf4bb45f5bba phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fc1ac57c-8eec-42a2-91fc-b0a1535837f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:281398c2-e569-4264-9f36-1df31fa57999 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:56d1cda6-78cd-41d1-b95c-043446c50063 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d7e6c5f9-ffce-4092-9366-7d67abf48e51 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c321f7f-9412-4810-a844-70837ff88f16 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b18be7d9-00be-484b-8c67-b09d7c519c4f phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1cf199e-7fe9-481d-a903-aafcf1399b9d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:783d2af2-699b-43a0-95c5-239d380200db phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2af0fa76-594c-465f-adf8-9ae6f44c3628 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a38ffcc-2804-4abf-9ac1-f125bf428e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6bc7e55b-d694-4504-b263-33afe8a02f28 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58f05723-156b-4c4d-bf8f-f11796a7d441 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:20097d29-626f-493f-a2d6-decd84ea1a93 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0efbcd75-755d-42aa-a1b4-510ddf7fd17c phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f1627a4-9930-436b-87da-08bdeebf5f91 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:458f930b-8b2f-4e2b-98df-06a976b9bce3 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95331aa4-4b70-4621-99f2-e9c530a52dd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7fa6e005-8409-4a68-8db7-04cf8bc52b90 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1cf916b-4e07-4a4f-b049-23ed1adce564 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e33b1f9f-bd2c-4a17-8ee7-06f7a32612f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35ec583c-3f31-4751-bbf6-9f0c90e463fa phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e89ed7a-c573-418a-b967-7e34c7816e10 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45d0de03-866a-452c-b804-463275bd568d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2156cdf-ef5b-4018-ab63-d6016db945b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1574506-425a-419b-b6a0-856c6a946a1c phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0da64fa-b8a6-45e8-84fe-e5e1a2cc9a67 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f88edf07-050a-4215-8c70-6cee494d1edc phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7815ab40-bb6a-4ff2-8793-69978d8820eb phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d21812d-b36e-4ea9-b753-cf1394337a36 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ac3924f-6c14-4182-8dad-c329c6d78a7d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e29adaec-bc98-450f-89bc-36840662318d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3811368f-cac5-466d-9ad8-e2fb0c835fa3 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c560778-a285-4aac-a9a2-436cafebe6ed phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd23d3e7-137d-47c1-82cd-b5978316c7ae phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ed7a21a-dea9-4cd7-aaee-75f43a799cd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ffef80c-33e3-4e38-89c4-3d117c2ad3ec phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a9a0b65-9347-4f98-aa8d-86302b373ae8 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f34e883-75fc-4291-8f91-ab345d82a368 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b855c27-f764-4ec0-b8ce-b690f5a7b85b phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3841dfa-ffc4-427b-a036-4505a62863e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff36cab4-c975-4613-bd03-9a4c34127942 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cae97e0e-a651-444d-8110-9c376769ef6f phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:309ab8fb-a24a-4118-9408-bbb61a1de6d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d37bbdd-1c34-4f4b-a9dd-5fcd4bb7d574 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de049f5d-eb44-4415-be22-5a38f8995db2 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6fd5102-964c-477b-b401-f2bc24d4aaa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1553acc-702f-48f2-8bcc-98600be7cd5d phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4653fdbd-7f7c-4557-afb3-83628f1b0e00 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b150c8c-560a-4e73-ae46-18ebcc795b6f phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee291218-e1d0-4e80-851b-c79ec06e0fd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5051fbc9-7dd9-42d3-a7a7-d1c183173753 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d21ab50a-a533-4f56-9db9-9780acd3ca37 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f75d499-c554-44db-9576-53792fbb929c phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03a2cc8f-0a72-4b83-b6d6-357c4dfca391 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:555522a1-f7af-4369-acd2-e596c9345545 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01f0f446-2a83-4bd4-baf3-a1d7e62b2971 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca6aaff7-3244-43be-9546-b234d724dde0 phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4218a11-0c99-4c04-8035-2821b3f8793b phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ce0a5ec7-e4ce-44c6-afea-8bfc747e006a phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39ae8fd2-8e90-49f2-a237-ccad704ac063 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ba76487a-304e-4d34-ac5f-d3c1920aaa65 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b23470ca-4364-48a9-aa23-aaa381f04c94 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5dbcb9a2-01b6-44e3-a616-fa086afbaa99 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:afd8e89a-3549-4d9b-8cc3-7fdd8c5179c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eeaacf54-3e70-409d-9cb7-3603c67f313d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54d3a2d3-05fc-477d-a9f0-4323df07b6a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:65b8e0be-8268-4987-aa33-14a44a060e85 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:120ad91b-50be-4d8f-a291-22b8b77e794f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11390c80-14e5-493e-8566-a41a9bed6de8 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:382b0a0c-7201-4c51-8ca6-f43cc2ac827e phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ca549a8b-282b-4c16-a532-2f9af59b5a4d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fb376262-96e2-48c8-84dd-538f59a2d3a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:525070d8-d3fc-44dd-8f34-65d42fba8c08 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9584c666-248f-4a45-8c6d-63a77198a31d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:895ed3e0-e82d-4120-8cb4-87d4cea57f54 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a299e750-ea8b-4501-98b2-318e8f6af316 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:629b4a54-aa54-40e2-a84c-1e2d2afb086f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdd325bf-0427-40e6-8148-b133173c5bf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05505493-f707-4f09-8853-5ee9f77446fd phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94f322c8-6a58-45b9-a450-0a3bc18dbbc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94a3d155-a2d3-4243-834d-64dc225750b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39f7a9c9-a4fe-4e06-98ee-f0f6d8ca3687 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad1c748a-61be-4437-8e05-272be34aa790 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b683a86b-af2e-4213-84f1-327395254c0c phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cf69831-b2a1-4133-826e-d0f73998be09 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb393363-41b3-49aa-b1eb-4ab2f91aa541 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b2b9621-a4ae-4bff-be22-60a9677d0182 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92f16039-622c-4089-b141-5fdb118335fa phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a2ddd69-015a-4ba1-8825-4b4d1a670b0f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bdb9a985-e9be-4450-bd02-5a2217c33901 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:763727c8-db48-43fa-a671-97b6e33ecf9f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7bc148a-604b-46af-92e7-7ef5d27dc638 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b9cba8a-8b1e-4b33-bb53-b44ae4e63315 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:093417c3-8240-42a1-85f7-2eff89869fcd phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf4af30a-0e9c-4351-b34b-23a4fa6fc351 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddec8b26-0be4-4faa-bdf7-780651b04c3b phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad417d86-854b-49e1-ac7a-4d27607b3d94 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32eb96d6-44b6-4839-8a08-d521663bd1c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:821cab0a-1cf2-42fd-9bf6-d65863e912a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da8997f1-abcb-4a9c-8216-34ad99442f6e phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0c40200-cccc-48d9-a350-7acf311d48c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f38d3d9-e93a-4f2f-a2b6-fae24fba564f phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4cd473e-0c37-4018-bb29-39e9b22d0c59 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea0d7eb5-dc54-4bce-876f-dd1fdb528cb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b30d82e7-c09b-43be-be21-7716395fb10e phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85c4ca8e-6821-4f89-9205-6aac2838077c phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:064e1135-0b3c-4b95-8e87-79b99a2f835c phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94d55d47-732b-4d30-a223-eb8caa497c24 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71c07305-8768-485f-b194-a553fced9c0d phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:944c8c77-974b-436e-a406-7a951bc53ad4 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d25ca2e5-e389-471e-a78b-8504f9cff4b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb49d225-f1e3-43fc-8b7b-f6820eb00153 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e68e2d9c-1df0-4d26-a98d-6d0c98962d48 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0537bb26-44d0-44f7-8d70-cb1cc931a772 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fece3976-422f-4199-adea-ebb2a47c6104 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b152bd8-10ee-4e3c-bfa0-a94f7f70e1a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fcbde2c-b83d-4a96-ad3f-46d898e93477 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f43f99-b98f-429a-b0bf-5a602f3a5e2a phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abe541c4-742e-4560-821e-4b3cb04bc588 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ec067f1-dc42-466d-b5bd-e0516f5cf581 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ed2fca2-0fb8-4ba2-bd38-d54d59084015 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f81cbb9-b796-48c2-9b50-69d0ff43c120 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86677bc2-9d37-43b6-997c-06f01bdd2539 phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b91c83b6-45ba-4f52-b4be-de8fa1f4e3ef phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad7ca706-498d-4838-8fd0-c3633d1cd3d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f007ead-f68a-4a68-abe6-1ad030258da3 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a24e05a0-bb6c-44dc-b186-810b2def606a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6ed759f8-cdfa-471f-b128-b17a691cb8b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:498811ce-87d3-47f9-a5a2-f981bd81001a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ff43da4f-54ac-4a8c-9c20-9112c81ffcac phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cc8077c8-28fb-439d-9b67-56bae6539d8a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a955308-dce8-4ab3-8bb0-94559f5fe669 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:643c8837-306f-4b0e-a0cf-257790615193 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de892dcd-52ae-429b-85c0-f0a9917171fb phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:77c7caa6-1482-425d-af74-18b8ab501b57 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:655a0a8a-d790-4a88-9380-93b8237db25d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0a91f42-9e1e-442f-a51d-cc312fb41c12 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:08a4605a-cecf-4f3b-a4cc-cbb07e3b65ca phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:adc5d189-f2a3-4896-a0fc-0eded3266092 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ac4e302-2e44-4b5f-b00f-228c94b4ea14 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31839abe-65e5-4732-a815-11008a8d03d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6498fd27-eb17-4f04-8f4d-f892bf28ff45 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d015659f-cf72-40e6-b31b-84b5ff161847 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c66e763d-00ce-4662-bda5-f86cb8b58477 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2d41b00-01a6-4f7e-bc1e-21a0da190ebd phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa24cf27-8d02-41f3-909e-9469b756cd10 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a97d6d85-84f4-4c20-b3aa-af93b0e7fc07 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:345f5dbf-f956-4315-92ce-d5371f592acf phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c97a5f9d-b96a-4c85-a5d0-f7fa95d805f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14ebd126-c9db-47c3-84da-aaaf05907195 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab9b39f1-b393-4b17-8a09-88c605ba9ff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2f44ace-8068-4480-bc62-0a3efdf84843 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3aae1a3-9fc5-49d2-a139-e8ff274ccf7a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38a2b823-2597-4eef-8077-f53c116e449e phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42236b90-6712-463d-83c1-70ec016462f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f16cf8fb-045b-4fac-984c-1ebd5802d477 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:609e9777-f363-4a30-a7f9-59efc22ea97d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a43653fc-7f1b-4f86-aa68-55b12a663c7c phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ea9246d-1376-4f51-b6ca-a3b91853fc1c phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92017ac1-de8c-45f1-b4a3-c4b45dc7f88a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d880b7a0-f210-46ab-9a52-0bbda9bd8dbd phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edb553c7-e5b4-40e1-9e90-1bdd66538182 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc8db222-5246-46c7-b099-e29cba8edec7 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77ae23e0-fa7d-43c8-a4a4-0d04b35750fb phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b70ff1f7-3e20-442d-b401-9ca11eb7ac42 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:289a4350-3cdb-4d5f-90bf-dca6f4eb2f0a phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4c6c00f-1fc5-413f-97bc-3c4e0f2c577d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:068ec6ca-1897-4e36-8df5-66c4c2abbd02 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e2569e0-c7d5-4aa2-b8d5-26e8bba681e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20318b93-f013-444d-8bb5-15152f508637 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a7beef7b-6c85-4090-b393-bb4b33579814 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69ed9e0e-0a35-4c3a-b058-c4aa24b9668d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e0ed11e-d2c6-41cc-889f-4d9b76940b88 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf704e40-e5cd-4170-bb78-f5306ffd6f07 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fd8a64e-d12a-4f7c-b718-a41f8e4182cb phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d47628e-1717-4758-a82b-ce5153634a05 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf74cba9-7f7f-4f39-a0eb-37a3fc67983d phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cfa8662-0d17-4d32-b37b-ac7765ae8ede phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7caf625-96a9-4469-affd-acfc39b8ded7 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ecf3218-21b2-4b03-bc55-6d9c8f28b9bf phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c8c49ab-0394-43b2-b1fd-a4345631dff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce1e13f6-2adb-4536-91af-c81045e3725f phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50a75495-830c-4b51-838c-f44a1fa0ba02 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fba72aa0-0ce5-49c7-87f7-39edb917cafc phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8009fda1-425c-466a-a118-02d403b77158 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9219cbd-f099-42b5-bbc7-7a63a0b47344 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8a5bc69-833c-49f0-89b1-918c7d6c6ba1 phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75e976c0-1161-46b3-9db7-186b24cb189f phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ff06e7b7-7968-4364-8137-380d49773058 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:73b94375-5455-48c5-b944-acf2ee218b8c phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6fe699d-0361-4163-b6e8-fe09103fac1e phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eaf0ca09-9f3a-4f58-ae9c-9faa7d4360c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52907f7d-953a-43f5-8abc-d84c50abd7f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3644e35-768b-48c9-ac05-36c3b97f8025 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:72dd3e38-a254-40ae-89a2-dca50dc9788e phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:549638af-be8d-434f-8165-a627bef58d28 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5f122103-ad61-4326-a236-c3cf49b80caa phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fcfbed0-f2de-444e-8e5f-94c8480718c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1eab9c8a-5500-4cff-b2f8-9a98eed4ebb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e81fefa5-141a-4503-b8a6-c80b67697cc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b7a91013-7cdf-4539-8299-34910b46251c phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5d09017e-b86c-4e10-8f09-c8ffbccdc84f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dccb6a75-324d-4fe5-b248-9234612f8761 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5905eb78-4f68-4638-9f77-12e821d6ea70 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7df6579f-9b27-4481-985e-32d73cbe20ca phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1ef8f51-acf7-4bd5-ad34-d1c0f04acf05 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef10ea17-ffe9-4d12-81b9-7e6f0cb5addc phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73860327-5316-441b-a697-403ed2896092 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d209fa7d-fead-4df0-a298-d6cde80aaef5 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6186824e-c11b-46ae-a14b-53ea354d9d4d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f12f0f48-e115-4749-a17c-ff3250c05f8d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7e66012-8528-4faf-b7b6-deb9e94a0bc2 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97ae3ba3-c595-47c2-a95a-55305eb50f34 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9100fa4-3321-4703-931b-23203fb80b91 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5d37dcc-2fcf-4ad7-aba2-9f2f2fc8c88d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a24afad7-6580-4a46-9a79-976c08a6f008 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0da6dc0f-0306-4278-80fa-d68d3ed93893 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a0ec072-037f-41f9-a658-7e678a974155 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a894754-0075-4cb4-857a-436b54e0a4ed phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10175d76-ae68-4da3-996c-22c73b0c7066 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aaf1d935-cd90-4f17-ab68-6d6cd71a33e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:170ec329-f5a8-49e1-b319-225c80e4befd phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc5a1fbe-1d9a-4f18-9c2a-1ae52920254a phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7721764d-f006-4950-87b7-da6332966ad3 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1204cc8c-20d2-42b8-b1c4-961722c73ffa phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa36be3e-3bfd-4f38-bab7-89d25a450317 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55502b30-c625-4a15-8f1e-4365dadc4a52 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ecf3eea-1c7d-43df-9001-6c21c7230063 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0298bb59-5719-4b35-ad41-b5bd72812339 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a05e63a1-94cd-4d80-8e89-d1c1d4bbe968 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c784200-71d7-4b53-b973-c8169ad45aaa phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71651b38-b068-4e26-a719-645bd8795af1 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f35678eb-92d4-4840-b0ae-ea651e38c7f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bda2e187-44d2-4b35-bffc-0eb5fa5c2154 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af654797-ec43-4df1-90ab-7d6ef91db956 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e06839bc-7e22-4d70-be1e-a259befaa555 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:820f64b6-496a-4dfb-a4d7-f626dc886b2f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5659ec0b-5c67-48e0-8e85-e6e8d481037d phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f9ac3e2-a51b-42fa-8e8e-94708b228290 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72ff8282-3234-4bec-8b07-3bbca2a3ffda phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:855d69bd-19fd-42b8-a205-b2624829cebd phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2632036a-4411-487e-9841-7f13df098e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d3b6e71-c894-4a8d-a275-48d4de10c991 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14b0d554-0e33-409c-9c46-3c4bea8ad450 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:59c5719e-0b3f-4102-9b35-004731033dc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6323245-2cef-4feb-b33b-8735ee0dcdc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed2c9d86-edd1-4b4a-9f51-902310d332cb phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4246627e-7d55-442e-a750-af237d689d7b phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7f2792f-6137-4989-b998-ec4333ad6cb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab482105-ad99-406b-ae4b-5a564681227f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6be6d2a3-5cf1-4843-ba9d-99adf436edfd phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fe25161-6fc4-4b37-b526-2bbd0d0967ff phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74ffc58e-4286-4a89-ad14-f77daca0c055 phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81bcf537-8796-42c2-ad77-bf6e4dbb049f phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:caf0805c-331f-43e4-a221-fcd2aa963501 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a3e703b-dbba-40b4-9870-5aadf3eaa82d phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52a09632-04fe-4f66-85d5-5522b0bf5f05 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b2233bc-6800-4562-baa3-3acffa28a3bb phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:57f2c25c-347c-47f9-9008-98608ee6a399 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:31996157-4583-44c6-9b60-58bfa543604b phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4fafea83-9e5d-44b4-bafb-6035651ab6bd phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3ce6848-da8a-4ee8-821e-aef7236b79cc phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d90b2cd4-68b8-4856-8d20-fecac25a4e7f phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3116957-588a-4918-b425-932f770ee98e phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a84ce9df-7ae5-4b8b-a5e5-34b8eeaf6c2d phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:546280d3-c076-4267-990c-6dd1974f5a86 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:86f018e4-b2bd-4f0d-a2d8-40843f2e9582 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:93be0eed-56b2-4ebd-80ec-ce8064f8f86c phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c09691db-4ecc-4cd6-ae99-a6490f1b3602 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de3d5e8c-a49c-4b0b-9c69-0d49fb8928cd phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:97131ec8-3805-4e56-8773-a83ee2200e2b phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e2a8295f-fc90-4950-b0b5-90a396221c05 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ebfa0ad-4085-4d36-a8a2-8b0c310ed5cd phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea0e8505-6f78-4a5f-a8ac-a6c8ca770c04 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67cf74d1-0569-40dc-83a6-e71522c906c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86b0eeaf-1ab6-41ed-9330-4a7a6933348a phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad988f22-32fd-4705-98c0-0c4db4eb0a30 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24b9af97-3f81-41bf-9891-e51d06b7f2bb phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad4ee785-16ff-4089-9562-4714ae22c5ec phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b9ecc35-aa7b-4dd4-8a1d-6f0e3f47af98 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04bbb074-db81-45d2-a52e-f285732b5f82 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd4c7965-0fff-42cd-8f81-10e86f621052 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f4c47ab-8022-4457-a5a6-fb85595ce091 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5f9ffec-0646-4fc7-90a3-09121ec9f5d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da78fd95-fe21-4308-b725-8e28915b4049 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92bcbe90-f862-496c-9780-f6f07ce84982 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:376c084f-50ca-4bb3-8ad0-a8e7f549b25a phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dca248a2-a34f-4236-94bb-a481fc1cdeda phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6377abc0-3247-4064-8763-d759877b2ceb phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4626e9e0-97b4-4a41-ae19-aab3b88496de phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5aaf53f-dcac-41ea-a857-496142882949 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13e80b91-bc69-416b-bb33-bc0aabf87397 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f90b65aa-b07e-4a3a-8d13-d33a06196499 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c1be104-64ff-4281-a946-11efc91f98a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b88f3526-909d-4b87-acf3-57bd082f11be phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cbb4cf6-935c-4682-b2ab-8e4c9b01f245 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a76e6f96-24be-4ffe-aeb4-157c519fa7af phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da5bf098-95b3-4cc0-989b-d33795463d8c phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33b98134-37c3-41d5-b5ed-c0f82c0a14a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36d94026-880f-43ab-a9cb-fb1ecf2d7238 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:437e6e6d-25d6-4608-90ac-0965d0e51d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12002648-1bce-417c-891c-f35ad6f2f344 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b14f08a3-53ac-4a34-abbe-d798d1b10c57 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eb33b16-dd17-45fc-8d05-67f0e968a890 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99bcbc43-8cbc-4e27-891a-b034f41e5cde phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be07d1a5-2b1d-41ff-a007-37fedb749b59 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36ebebb8-28f2-45c9-ade3-4c880924ca84 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4b905a8-486c-4a1c-9baf-b006027daca6 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d161b254-cb53-45a7-8efc-6dbc2d4825e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4221b199-82b7-499a-9a3d-4d975ec245c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc6665eb-a24a-45a6-8997-3f7f05b943cf phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fa287d4-424a-454c-af78-c8c223e53ea0 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a18ce1e1-ed56-484c-bc69-80bdee27f013 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03104b92-c64c-4e80-b2c9-9355ba4c51c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfdf9046-71a5-47c8-b2d6-68fd132e4504 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f71db9f6-422b-4c9f-b94b-5d8d495bc1f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52d4d77a-e551-4b18-96af-f96b775eddb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd6dc8d7-564b-4cfb-8f57-9949197bc702 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5504888-ef9a-4953-a14d-182f35db8ac9 phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d964bf2e-f692-4733-887b-2d9baa3fd211 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b7530c59-aaa2-47b9-99b8-f441433a999e phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:14e38667-5e8c-4545-8e07-93bf196493e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c80cb6a0-b898-4d6c-9657-7e383e55c0bd phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6a53571e-effa-4141-b9ed-e49626c9bd41 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a7d8996-6f2a-4436-b5b6-16838ecf3da6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0709c32e-700f-43ab-9e01-f550d403ed3a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:383e6e0f-8b05-4b97-8f57-ec97d96209bf phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a95a774f-9d25-4939-9c63-483c5a2fe1d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f1c765c-dbcb-470c-81c9-5a319034723c phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1bf641b8-ad40-4daf-9cd4-edff5564ca51 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1828a4db-5f8a-4efa-a34f-a4521f68278b phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03aabc7a-a132-4a0d-af1a-dbe31175c782 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f6f7d601-53ef-47e6-8414-55f48ffc577a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb392c87-68b1-4199-9655-e03e93b710e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9de9289b-955e-4889-a25e-7984345eaeda phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:97aeb65c-8da2-41ea-a145-bd1b2902b432 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:007a0179-09b6-48d4-9273-b4a0307d48a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:40f3350b-434c-49c0-b855-d6a77f4eb0c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b41e8759-a574-45b5-a5ea-f31aca27f92d phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:702314a0-a371-4dd5-974a-fc31c73593af phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0763a2fa-308c-4b4c-bbd3-0307c38ae13d phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c566f57-11fe-4541-8ccd-220f72cc9e0a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5430a04-a92b-42a3-a928-9e9141973231 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d3c76f0-d60d-4a36-8279-ddf736042919 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:27c0e111-d8e5-4b9e-a4f0-edc74e3f0fdc phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da6783d2-e542-404a-a78c-0c4f23ad089d phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:27176e2a-5b9a-4cd0-bcb1-b0b65d0d6184 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e3518f2-3490-48bc-ad79-f7f5fc7d0807 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f0d89fc-c5b3-44cd-ac15-379bf9d1891e phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09d84740-b801-41b9-a74b-3860552c6200 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:803d07ad-c803-48d7-804f-45f6a589b26b phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d1287cc-c31c-4cd0-906e-6626ddb975ea phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4fa937b-52c4-4de8-8432-388775eb73e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c1f74ff-7c7c-49ee-a337-886c42ba9f07 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2f2419a-8162-4926-93a6-aff7dfbc0663 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a339dda2-f7a5-4d3e-b0d1-c96d6f8c9039 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f416c622-d2e8-45bd-b4bd-9ed02a50ef28 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76877b31-7aac-43e2-a6b8-b2f839aa4ad0 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20daf5eb-2cec-43ef-866e-7a988fcd67ad phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:280195cc-ccd3-4850-a08f-26f1bade7e3c phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1738624e-22e0-4c49-a60d-dbc11779a522 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fcf006d1-485a-4469-81e1-907208b40acd phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88b28d25-33f3-41cb-ba1a-78d0dbee2ae6 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8947f4c2-cfcb-4b32-b779-b56da3aa8d26 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9391325a-ab9c-49d7-9ba9-243504a7826f phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c37d26c7-8327-4715-a900-1d5608497460 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f72d51b-694d-4b51-ace8-22cfb29e9c55 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a294c0b-5680-4b2e-990b-84b00d867e97 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6b55efa-998d-4bfa-8b98-2895115f0200 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:145e7d47-46ad-4fd8-8494-2d7f29b006ee phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:683c3512-bf1e-4645-8059-d86c6abb0cd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a0563bd-852d-4fa9-a739-09b99c32dfb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ebf0ddb-f7ae-4ec7-a857-1241373ef796 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:327ae2c3-3b50-40d9-ab5f-bc8073ab0e83 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e1e7051-4a33-4b1b-94ac-b06fe5681964 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e86ec4b-9fe3-41e3-8933-881c8df50c5a phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae026bd6-bc4c-4139-9cc1-e1f231ce0573 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5f0c47e-71a9-4a3a-b626-da0e8c38ca55 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b529dc1-340e-4227-9589-bc99cf186721 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a7cd234a-182c-48b1-bf51-f9dc0a91762c phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42d40d1d-b128-4ac6-892b-3ae0dbe12f44 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08126b8f-a6a5-4e8f-8346-e3bed5170553 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e777aa0-de40-4b3d-995f-d20f5d78fe96 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71dcac1d-b302-4612-9d8e-edb8a653dd87 phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:c29eed2a-35ac-431e-96cd-3dbc87351687 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c8f031a-62f8-4dfb-9b99-1e7c3887f955 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:df76af20-d252-490e-a992-316e84e09dc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e6db3132-0181-40c0-8243-ef2d2d659a42 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:21c53c03-5076-4f0b-bd60-da61ae91e872 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4103a9e6-be73-451c-abb2-def93a0f81fc phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:91c3d88a-9967-468a-bfdd-13b7c37d9984 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f3276e41-8b97-4496-9796-e565453f4d10 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3358db76-71cd-4934-88e4-2746fd1bc1c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b32e5af5-44ac-497f-8e8f-f6a8917e33ba phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bbc58292-c72c-49d0-b9fc-9932b6c7d24f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4a8bbaf-1235-41bf-b6d8-fbaa2e1d69a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3a2234b-7566-4765-a49d-ca4f942cb3b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1909db86-f16d-483f-897e-d60089f67a40 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d0969b57-346c-43cf-9dc8-de2479f706d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95a73fd8-a6cb-477d-943f-822e35792985 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6af6a77d-c18c-4b47-bb0c-698c1a1cf9cf phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e4c3aac-f158-4c83-9f7c-b658d7c437c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:73566921-3d7c-4c9d-b82b-97514be93f55 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:510f6075-b877-490f-9452-dff9150860c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15def6a7-d3f0-4518-b0f1-50267627d322 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abbf2a83-d030-4777-b90b-0b75dc5693bf phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f274cc6-423c-43d9-bc2b-18a3c7a04d63 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ada8adbc-af1a-420d-828a-fbe6f6b03e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ad5d24e-d8fc-41bb-ae37-2235e9704d95 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9dbcc871-3c5d-4533-8a86-469b715edb27 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a99618ff-190a-4e77-97c3-50bf03a54ba9 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a167a57d-d32c-43e8-99f1-994e0686014b phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64c826d6-5b75-4025-87e8-20d0c1be4543 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9e729b3-c6cf-45e7-b72b-a82ddb920d58 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18457c08-ca98-4552-a485-0b66fb3cca1d phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bdef0cc-ba87-42e6-80a4-e620ac1d800e phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d67f9756-6821-44f5-8b52-0d7c4108da45 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09679fa7-2db5-457b-9957-31bd177ffc67 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bf4565e-9926-4761-9fed-8d2148500c49 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8295d0d-37de-469d-a3d3-b21e08db4c0f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:452d3c24-1c37-4713-851c-48fdb76a5b24 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f67499c-c723-40eb-9fd6-d610156b6a0a phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7b0024b-65f6-44c1-af24-0023e1d68e2f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a8ba7b7-61bf-493e-bd24-0e771d25faf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:326d3c2b-cfef-4dce-afde-d7a6dc9e17d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a98a32cf-6e37-4e37-94e7-e88adbf4f58f phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6d6103d-ce85-472e-8f6b-4ad0f4fe8518 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70ee19b7-f285-47ca-b177-2c87e65ee226 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea93296e-1fe5-4c29-9e0b-ef825f497eef phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:440238fb-35f4-4caa-8b06-0bd775ac86f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23edefe2-c40e-4608-9490-51c23d19d463 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:578fa413-e7e3-4f8d-886c-1671f13d5aaa phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc4316fb-bc2b-4936-8b29-6acbca3c300c phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5eef4821-33ef-44c5-bc4c-b1f28bec6340 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31b898f1-ebd4-47ac-b7d7-726e868d9918 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fcdcf54-ca98-459d-8339-22f6c0b8d443 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29a1f9ae-8ba8-4a48-9e67-46a4a39ff611 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d5557b1-7f10-4c2a-aa8e-b94d5cfed437 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4979778-a620-44e3-b46c-d1c824e2cacc phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86f6551c-993f-41ab-a108-a7bf7b95acfc phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8886d7ed-f24f-4a70-b6b7-9f97eee03c06 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea545a88-ac78-4471-a18e-8713c07c2cfe phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:665494f0-8267-44df-8aba-d6d515f953aa phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:157a99c5-0b47-48b2-8335-17471851fff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48b537f0-1b9e-420e-97ec-efc1b0881622 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8c71867-91ad-4f25-b24f-b2f45bb94c45 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7dc6d4ed-6077-475e-88ea-0525ddbaec17 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e66fa79-4fef-4856-a789-bbbaf34190c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83b18f39-75e6-46ca-bc1a-5b5b243e9e5d phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4248cf91-18b7-4e43-a97d-e579dd976bbb phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aba6b245-fece-4e0b-ac40-4ef137e474dd phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ecc56d0f-1fd7-49e3-b332-52fc5f1a94c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:02745306-e3c2-4fac-93dd-8718dbc96709 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d5670a3e-c5bb-41d2-9f72-d1d46585b239 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1ca8dfd-9f2e-4674-8ab2-b912f402b482 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f0359b8c-150a-4317-a0a1-4d0755ffd190 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:669c8b1f-9c71-4dd3-b052-eaadd022d6e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ff63c4d-f2f3-4f5c-b715-3ea840d4fba4 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:35cf3072-ba5f-49da-8a85-55febb8ad061 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5e9405d-0ce8-4e19-bd9d-e410bbede241 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:74a740cf-0e8e-4671-845c-67dc72914f9b phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:81fc8fbc-1ea6-4064-9424-f225e51b49db phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76fb402d-51a2-44bf-ac16-3dae8c0193ea phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:77d891b7-b346-4fee-8845-d0cf93780669 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:69d754e0-5a2e-4d98-8e14-bc95f1cb895f phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f19587b0-277b-49c9-90c5-ea9bda1448e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3f2601c3-92df-4c6c-9017-e1766730583c phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6aeb5ee8-6ed1-4a2b-90e2-e7c6dba0b482 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0b88c31a-89ff-4bfb-8b5e-9b59b65e59d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1daca5ca-8378-4937-a34a-f9dbe0f19b38 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:97caa9e6-57c3-41aa-9243-4f2394bc7cc2 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c5cc524-94af-4525-89a8-20e76838ebbc phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:67862141-e355-4318-a793-44eecd66ab33 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c76f198d-8fd9-4a4a-a48b-6ea88ffc7119 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4d64e56-5410-4c87-a1ce-1065c0d30b63 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6e60e3a-f1a3-44ae-a4b0-da6d1f1f15c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f9d865c-2b9e-4acd-8a7f-56b2a32bd70f phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:faa88c9d-e31e-4297-8bba-49a5073414dd phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05794b14-257e-469d-b137-fbe4fceb17d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0c34ee6-40ea-4b88-bc65-85e76805571e phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6e8b4fe-1f52-4f3d-b5a8-82d98cce0781 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e870cde-f9fe-41e3-8478-f6240316d9ec phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bd5d059-a3a5-4ad3-9543-e4e6cfa4fd76 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a7b521d-834e-4e18-96cc-7e9a8bafb9cc phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5e1506f-3158-42bf-8d78-5a0095bcbe74 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd2f8c92-b30f-4b76-8aab-60d5f093d8ca phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efb75c08-b345-462d-83ee-e83ff28c8bed phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f671682-7f2c-40b3-b337-3b8e0394a435 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d97b41d-68de-4c1a-82dc-035e9a763aba phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e23205b-746a-4b62-b0be-839e61997e81 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54d9f1dc-b282-4b35-9565-435f0792c3ee phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c7e1443-5738-48e7-8ace-024fbb530b99 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4c05740-89cf-4020-800d-475c18cf7f09 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9e1bc3c-1f94-423a-89fc-5b69e29d5d01 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3f50069-b80f-44e2-b7e0-1f64b1c0d682 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19f68978-144e-40d8-a712-21720f6e3da7 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e8c8532-3a26-44aa-b60b-0ef7452cf40d phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:adb2faca-04a0-4dd4-8ee2-3c1c0bab2f63 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73f3950f-0f75-4a36-ac41-f80010aa9b7c phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f2bee77-050f-4008-8bc8-28fe299a16d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5221e4f8-b445-49d6-ae98-435805e7a8c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18e29a78-efe0-4fb0-9cc6-c62a9ea62d98 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:caedb23e-0026-45db-bc79-433870cc9f50 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e3ccf71-507f-42d9-94e9-60ae544517ed phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99b36c35-ad50-4ae6-b27b-d56397072750 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:979ec6fe-8812-4cc4-be96-e1f82f5632f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:009b49e4-32af-4b9c-b451-2c405395b5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4b444a2-a90b-496e-8e7a-825f36004d13 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b41c6ede-809c-4ef2-947d-52a28805e4be phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36d5748f-c6bd-46bf-83a2-9712c550eaef phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17985f22-2744-4769-940e-f89f1901c06e phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c311d73-eb86-42bb-8fd0-bd493fb1f516 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0beefde4-4d9b-4f15-8fb2-6862674e8cf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3d44e18-cea4-44ec-bf17-17cdbcfc096a phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:1c2f9c15-7dbb-4f74-8e36-d3ca5db5a024 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:43908cf6-2c23-45f9-bfb7-2becd8e56079 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1e20ad8-de4e-4625-98b4-9a8e01335e6f phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7704a62-07ff-420d-bfd1-fd7df8ce4a59 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ee2e2cab-67c4-4e71-a54e-76b6854f871a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54a387df-ffb7-4640-b95a-8b5c09fd3f54 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d257271-49e5-4eeb-9a98-5e3f8263373d phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a223fd8c-2e0f-4775-982c-38c4e41f5f84 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab75456a-4fda-4254-b8fd-bfccf09851b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c98eae24-f507-47b3-9955-39a723cc792d phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98321498-20db-49bd-8631-2ca9b686838d phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd37119a-0071-4d92-a9d1-3ae7bb52c97b phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8afc0ec7-fb40-4bd8-a62a-7c1dc3a6f4d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c65f25e7-427b-461c-b64b-aa05e7b7a330 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d3f29e6-b044-42a8-b7fc-9dc73def1323 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:acea9c0e-e504-4dc4-90ec-d9947eea8d6e phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0473735-f04b-4350-95d9-ef4a6d1cc1a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:655100e5-3585-4742-84bd-4443ca0f0ccd phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09ff0136-1ff3-43ee-8518-359b47a7098a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83218274-2a50-4bd4-9ce4-47313f3f5e1f phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:49580da8-0c86-4cb6-b45d-5e9de3ee71dd phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:177e741f-1c69-427c-bd06-92fc6db9f21e phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00f1bf9e-7ab6-4351-9626-65fa1fbcca42 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95b65398-5813-49f3-90b8-ea66720c273a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c61645e-e08e-4c7b-bd35-895c2ccacc0e phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ba5300d-d951-4366-ae40-687042b78190 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:546b0b62-274f-44de-9b63-363f3244dd0a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d720ed82-bdc8-41ce-a696-06b635e014b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a94434c0-bad8-41af-99bf-61d75b7deee3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5b21ecb-ea9b-460e-ab71-f432651436e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3f28210-1619-49ee-b66c-bde4af8623f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ee307f3-fecc-49ee-a51b-20c362316797 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:212686da-cdf7-4368-a0d2-3dd6426842ed phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a90104aa-4752-43b1-bff4-b04917e05765 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57ef6b18-b312-4b64-a738-f75e6f9cdacb phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c382a26f-c3f4-44cc-8ffc-ad261726b1a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abccc77b-d9a9-4c15-80d7-484ce1ba3e5b phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:723e73e8-c2d1-4078-833b-261296d69128 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43d43ca6-c564-4d2e-9f4b-91d053b7e698 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af3c15f6-2587-4367-87c0-07abf9f6f363 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cbe9cc4-9306-4c8e-b198-39c39ddab0f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d87188c-d4e3-4f2f-afb3-b9d4d6b241e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e90d64a9-5db3-4ef3-a7ce-ee72f7558be0 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a0b5f13-9e3a-4f13-a0db-f415b9394493 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b30f6c0-87eb-4440-ad37-debc960c4365 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a237b071-754f-48d8-a401-e858db65efd2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14efd87e-2997-4d5b-86d6-53a6f98d37b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f89ab70d-8e73-4c19-995d-90d80258da58 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e09095cf-8465-4c53-b915-9152fb2506c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cda566d-bbc8-412d-a19c-9e9be3704bad phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:941cf31e-4328-4ee1-83a3-bf2c17888cb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a4a0243-7d6a-4cf4-a66e-544cfe3ef7d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13af9eae-1c05-468f-9b69-ec97a3fc9f3a phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8faa8a1b-1663-4689-85f4-00f38b095ca5 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a7e2d12-40c0-4577-a606-9a68dd9a50f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6f66756-c4ef-47f6-b753-827937d096f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d453357-5f06-49e2-99cd-7d1432e587ea phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ee396f6-5f8a-47c9-91e9-7a4a29e59ef2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c21b0af-0a73-4e5a-8e29-644b8dac29b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7e860cbe-a0af-426b-9d66-120023c8bb85 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94c0102e-115b-48ea-999e-f239497016af phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7207d10c-9cc8-4605-94ea-1d28b53879f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70aef099-e0ed-4ab6-992e-fec060a132bd phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd99978a-7824-4a49-97b7-4866df8842ef phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dde49c73-0fd0-4076-87ea-1567cc83aab2 phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d235c2eb-33a2-4b7e-8187-0920cce9bd85 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9af44624-8a2f-4fdf-9370-eaad94228628 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:524f9975-14f7-4dab-9adb-2555349e5fbd phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:00ea6423-c95f-46f3-97da-9494d0d42bf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:665fe647-b16f-47c7-8cd0-5ef75abd1898 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4866af95-97ed-408f-b9f3-c10136344b33 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3defbb9-3dbe-464d-8b9d-7e2c4882654e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61021104-6305-4288-a6d5-8ab02ba66ef9 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:922b15cf-febd-44af-87d6-789fc2f1403d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a754fde-d8bc-4b8e-a9ce-0b63d3bdb249 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1dd26c42-03fb-45e6-9d9a-3c734f02de71 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:200aad92-a5bb-401d-b49d-9b52e838b8ab phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4268bd11-b528-463c-85e0-8213415d8d3b phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1880ded9-d241-4cd1-896c-2011df2fea58 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:67c58567-05fc-4271-b43a-8fecc5927112 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7146dae8-df70-4a7d-a144-8ef7744e4544 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36fc3596-8544-4bbf-ac49-fce9d23bef68 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4c646dac-18b6-4f9d-965f-e3f3757c7cf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b3af28f-d08c-47d1-8009-f453e61d43c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1513f4af-827a-4d0d-ad34-34e9e625b1fa phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8982681f-6821-4599-97d6-647c54955cff phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bf8d395b-b05f-48d2-aecc-95e2690fb90f phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aeb60a12-1f8f-4cbb-bdfb-46d0cb556ec1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fdae3ed-ecf0-4e3d-8c5d-08a289708137 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a2fa2b1a-86d8-4ea6-85cb-8bbe7b4cab77 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fe9e60b5-884c-40f0-b23d-7a3b50f9aeb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:53620da4-f6c5-4284-bf40-4300bad9d8bd phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4ddd8b90-d102-4867-be86-eb0acef4689e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fedb1d9-2a6b-4a5b-9174-fa8a222a2832 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ca70deb-812c-45e2-9eb4-e6e23199bef9 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78652c6e-0eb9-4026-aa0f-62343a98451a phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0390d38-386a-4330-9a75-90f41136b021 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66563654-06dc-4821-8148-433efbd7f8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0add2164-2c70-4c73-b808-ff6ead9b72fa phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:374a9b7e-11cd-450a-9a82-c99ad4ffa104 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38cec4b7-1817-4a8e-a19b-e726591327be phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4a2ccf3-1fd9-44c4-bd04-5abffb81c50d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:177050bb-5d72-4417-be8b-ab67a4bcccde phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2db88f3d-32f3-4a79-beae-62477a511301 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd98bab4-42cd-4738-9245-05b2cdb98a9e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d43bd403-8188-4235-a09e-1399dad45de5 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87fbdc65-5acb-457a-9992-d279b4d12baf phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3afb4dfc-33c7-48ad-ae4d-bcc6467a1508 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2462964e-16f4-4ec7-91c6-1f8880be77d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3531e2e-2b88-42aa-9d23-cd4d58b4be25 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8653e7c8-5907-483e-a083-c248fe42fe50 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02cab604-8b8a-42af-a4b7-a7a76ea4b34c phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:479104cc-8d83-47ab-86a9-89b1d62664bd phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fe8c55c-6376-4050-ade6-1b2ae33dc42b phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:41cd5055-84ff-4c6a-b093-9d7ffb4ffb48 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87adbf24-0931-4bc9-a437-cc47f43d251e phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d027d14a-e7ef-44e1-be7d-9d98088ffa74 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78959d36-fb95-4f64-9e11-c1dcc19b92fc phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4719f675-d0de-49d0-846b-c0903275d7b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e06d9d3a-d30e-428b-af51-2d7b58964f3c phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e600edc3-5852-448c-bb0e-19da7fa7d5c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38d0369d-7c2f-43bf-af27-73091c6f3b5d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e94075a-bb9f-4e5f-a52f-772b0f658d96 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29eb8753-180f-4a82-9ed9-8fb7a8e43894 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f46194f7-d7a4-4d48-9727-0b8d8c4109b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25cc08a7-25cc-4b23-9696-b1f0233b537d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5acc53cd-f78a-4631-920a-ea65b52ddc93 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ad28b17-e73c-4ee9-a7f4-89457f82f826 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecbac42f-08d6-4fd3-bc54-d304b9d3924d phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a81f61b6-956f-4cd2-8363-ba40fb17c2f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f6fd5195-ac98-4bba-a3db-c508ae670fc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b6c10df-62cf-4620-92f5-2347df24c5b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29c7e475-5974-4a04-b8d0-3c12b2da1761 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca25c8e-bc57-49c0-889f-7549dc1ef52a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6f0ee747-df0c-4acc-bdf7-85ef3dbca1c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e4ad681-b639-44f5-935c-0ddd8823c026 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fca9ae7d-63ca-4547-85af-f8ac51c09796 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:55d065e3-6351-4bfb-862b-2d2423bb444f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8bb7979-f86c-40cd-9f77-38c41c1b9833 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5bc736c7-0bf5-4660-aad4-a0cc308e6699 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ebbb9f57-a50d-4d70-9e93-9ac8265868ac phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ea3f757c-f9d5-41ab-b13d-a78280e3fcad phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7250a957-1554-4dee-84ba-706d0e6453cf phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1eb0053-5093-44ee-bfcb-39b6ef083d63 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3494cda-5ee5-412b-8a98-9b137f04afc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d69df969-55c2-4a32-a63f-5a7ebc1957ae phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:306ee996-065e-4316-a25e-2362019d783d phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93d9a245-799f-486f-98e7-ac6616e91beb phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e80c8b7-c4e1-4ed1-a490-4d5de810fad6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4df4e743-c295-4764-96c2-7bcb7e440bed phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40c07491-5a00-4a3e-b64f-0ad6c1f17136 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfa5081d-d83f-494f-90cb-b8947178fdba phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:542c0631-b403-4152-9b53-156ed448cb98 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:134c2f32-986f-46ba-a52c-29b7604e980f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50216b38-2277-4d8f-934e-b58ed0bf2fa2 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1507fff1-1660-40e8-b5cb-d6d1637c81ae phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d73ba0a1-62bc-466d-ab89-8d67fa9d2ccf phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1b1a241-f089-406f-903a-eb5c875d26b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b638703c-d116-4098-83d0-7cefeb1bf900 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11e7a512-ef1f-464b-b40a-0a0d5c55273f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a920bce-b92a-488d-b532-222d7bb36893 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f60ff5a-2214-4e2d-b1b2-928636eb7ac3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d3d68e6-5fc4-4422-b5ca-ee710ac21ad6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b245bf9f-d8a7-4c65-aa24-d3a086b30728 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9a1c3c3-72d3-4aad-b0b4-f2b7322909c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf7dfaf8-2a3a-41a0-bc9a-016eadea195a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b9a92ff-58bd-461b-8837-b166cdc87d65 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:098928df-2790-441b-a736-8884ee083217 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2e194cb-c253-4f92-85b0-fbbd17adb762 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1a47cd2-4eaa-4c43-806a-e3f405d68e1c phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9149fe45-702f-48bd-95b0-c357bb87ec43 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28259a4f-ff43-4fae-adab-b3174f41b2a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:614fb6f4-7fe3-4b90-960d-c70e2b524917 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f80abaf9-0f57-4448-8487-344b4c2ce268 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94d196ec-7537-4802-8eab-cd23729bd59a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a21aa8c-2dd6-45eb-b964-e15f173f430a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbcfaccf-7468-4688-bb91-bdb35a5ce7bd phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a96a1a23-37a0-4930-98ac-5ed416dff0cc phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fe9630d-9e97-4524-ab26-0059715d99d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4aaae0d5-6efb-4ad6-b7c1-ad57ab07c6bf phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71aacc4c-ee05-4d0f-bbac-cc732731bf96 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:767267c2-6f49-4dff-a6e0-d6060cfb6794 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:027696a5-7a49-4405-9d2d-bbe82abda29f phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d503232-8126-44ca-8a3c-7d3e0b637f39 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab4c4629-17d9-4fe0-9eed-6e8abfd63a0c phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efaee0b0-f581-495b-a30d-a6d1563677b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66a9630d-ca4f-4919-821c-16de33c5b3ce phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4016e7ba-c0d3-45d5-aeea-3c24331687c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0322403d-e5c7-417c-9e3c-a845b1b38a3a phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11cdd9bc-b4b7-4588-a953-d2fa25d574f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b87271f7-5760-4299-8f75-fa1afa828812 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c87fd9b-4131-4306-a959-c9029e2078a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1e9177e-0063-4764-be09-81314ac836ca phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd8e7c96-d43f-4260-8a5b-a85a3ae8ad21 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42db1f10-c149-4b60-ae65-2bd6248ff009 phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:60c0606a-f33f-42f1-9aa0-cfb9cc3a5730 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a91a1460-446b-4f39-9f02-883b685bcb04 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29fd19d7-c28b-4728-a6d9-513acfe596be phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5abedee2-27c1-4e56-a50a-15c4e4a7a1d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5d39eaf-5eb6-4213-97f5-54e6aa60ddc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c457f538-627c-48f4-aa3b-5689f57a46e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9f364563-31c7-489d-96a6-9e9a63d133d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e072f424-924a-4a91-a774-dcdcbb6e3652 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58e0badf-9305-4bfc-9097-e5dd7139194e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9b329e33-b037-47d6-822c-f6c8072c496e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e91487e3-c296-45ff-9925-fc7e9c013d8e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8f5dec37-8952-4ee3-8d14-c78f25f6df71 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ae93cb9f-a1fa-4565-bb61-6f944311d768 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b17e30d3-f02e-4378-bc8c-dad67547c387 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1197afe4-51b1-410e-9913-3b9e1a7f4e31 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:995b57c7-6c58-41bb-b374-6dc319715aa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7cc676d9-8d15-4ebd-9e5b-0d504066c458 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bdc1b50-1fb3-4240-ab69-f9f60d9a32ea phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb7b3fd8-cfdd-47e1-814a-22b258b4402a phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d92108c1-bb6a-4720-a099-e96ab95b2055 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:291a5683-85a9-4cee-b3d8-52bb997fa5b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:501519da-21dd-4f45-9408-12213ccb4365 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fb4b432-7271-439b-8670-d0ace668e9ff phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5371cd1-bb5c-4c97-8753-114de29c749d phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cce83314-c849-4073-92eb-7fb4fc451ea8 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac218e4f-7779-493e-ae84-a38ea2c9eab7 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:736906dc-301e-4f58-9b17-a56411ed8338 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9073619-137c-47ca-a31f-811578934586 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04230ae7-753b-4c73-a0ca-5579c79acbd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2b871d6-b3d5-413a-a9c0-bfe1791fdfe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48c98202-d002-482d-8a2b-e39468a0b4df phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b81c7399-9d1d-4b8f-902a-a3de5b403921 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9497c2e2-4d1f-4907-a31f-cfab9132460f phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a2f43ea-cae2-4524-a79c-f32614cf6eb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce804742-ff88-4c97-8f66-e50d3709c47b phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b78b185-3728-4da1-906a-cb1f56ad61d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc82cfa8-18d3-414d-946b-60a8c725f8a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be399a52-4794-4a39-b8b3-50dd43a5bc55 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df85b1ce-4bed-4481-832a-66aef30dfe25 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5a26aab-9cc7-4035-a61e-b64eb50d6d96 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:817ccf4c-7633-4581-a45d-1e9382163ad2 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4506f8fa-d3d8-4a00-8fc5-367c76b3a24f phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd13ad4b-0b65-421d-b8df-f1e0889878cb phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24160fa4-83da-420e-b889-cbf995eaf5b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6aec8271-6396-4b1c-8bba-7427696caff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee47f0e1-1058-436d-9c63-bd8c9d25c530 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe9a00a5-7041-438d-bb8b-7bb054cb58f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85e062e5-f1e0-4d10-b7b3-d021dd9bba26 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bade170-5f0b-400c-a844-9277bfbd91b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2592db1-250b-44ec-9533-a4b21db9c92d phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67357492-e4f0-4958-ab85-151227d2d315 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c709aaa-446c-4dcd-a54b-f8829746f782 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3c6f293-5420-43ee-9fea-2147828a8bfe phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06d65cf8-7171-47c4-ad30-04ed2eb57df5 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f94238e-52a5-4b2e-b7c9-d5ae3d7bd1d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:591fb5fe-cc07-45fb-a13f-8f5982d2b46b phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d69a339-3853-4963-9b6d-b8760967b1dd phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c84bfdd-c5f8-4bc4-9faf-3970d0209b46 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be08d87d-b367-4291-b278-4a1f5a5d322a phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ecdeb82-b37f-41c4-892c-666108c77eaf phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:443fe8f0-0f12-4b55-812b-19abc147aa30 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04bd57a6-4130-4e55-97ad-78ef5bd3f503 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f4c56dc-61c6-4b78-b85d-9cacb09a4c5f phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1dee310-5e5e-42cf-9244-e4877dd6f25e phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:275f2ca0-5020-4e78-b699-f92f6328bb21 phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:034cffa1-5f43-4cf1-a805-465ced7cff83 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:16d33469-9bf8-441b-ba0a-95e7ae7284f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1e6342ab-37b1-4761-8c13-af215e6d866e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9544c992-32a2-4b4a-9249-e86a20bec1ec phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e69967b-bc05-4f42-8608-574460e9e83d phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:497cf8ad-b845-408f-9982-0e3557369651 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cdef990e-f900-4a19-9e9a-af445cb9d854 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cbcf57e-8c8d-4512-9dd7-ca43bd4dee5a phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0b528eaf-640e-4fce-b38e-5d61284d87d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4141c39-bfe0-4e18-be10-31d32ee60d8c phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96b32926-338d-40c0-8ec2-72fc8da4fbe8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:60213b61-0d52-4d76-954e-a588dcdf35fa phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c20caf46-5891-4354-804b-d6e51c7a32a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4037c043-27bd-4c54-b3a1-fd3fa0193bfa phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b266fcb7-a527-4287-8fbc-e9435aeb88b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf555f05-f0ce-4a16-bd23-98ff40395270 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6368d698-7ca7-4d2c-9f10-e3eaa47a4933 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b2ed16c-02ea-487a-ac9e-3e18094620dd phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3323379-b972-48b9-9cf9-324321fa7282 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb4d427e-3c88-4e08-8829-d7a735216f12 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16422acd-a325-44a6-a5fd-c72da8a5b859 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90dac4dc-154d-4056-acba-75553540b828 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:beeb6e06-1a22-49bd-8738-c704e4bb53b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1375e711-6b3e-4566-a0f4-31fa101ebfcd phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1320c20-ea21-4d9a-9f6b-31a3e3b24ef0 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b20296bb-f6d0-44f8-a099-fd785ef1f195 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:243729f1-a29a-46e2-8b54-051464e43e9b phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abc01f73-1c99-4cf0-84e4-f47267755982 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0c3b5b0-de8a-48ba-a735-e92471c18256 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d860432-277c-47c1-90dd-562f64bf816f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90296ff0-6503-4658-bfae-821263123a9a phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51797f2a-b710-452a-9501-aa7334406ee8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e208ddf5-9bba-4e72-93cc-e9a5273157ea phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32f85267-d4ee-4d09-85b8-74acbf01a90e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a39311d4-cd51-4920-827c-8be05d9289e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6c497fa-a10a-4c3c-93c3-f77fd8460312 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a9adfad-1b0a-420f-9545-cbfed2959d9a phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b0f947c-9c08-47f2-a4d0-84dfcd0a7e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e357eae8-7bc9-4cc3-a2f5-4d741a19eaff phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bf2b55a-61ab-4144-951e-5476e5132194 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a0cf758-caba-4298-bd7f-e927fd693059 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e991b12-8c64-40e2-b980-30793d7e94e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0f98952-d7a3-49e7-9468-fd565199be5f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cf23c45-fdb8-424b-be7c-0f236ea99fce phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f413db86-b00a-4f0a-8873-f3649ccbc12d phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd59b886-5713-434c-a93d-4f610b63e0dd phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:add39266-c09c-4a2b-ad8b-bc1e9d8945a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bef8f2a-5b2d-4d66-a3a6-f9a3b25eaa0f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93f6480c-7a16-487b-9dc5-376b6db24f7e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2919e9b-effb-48ae-827b-345c859aa81e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61f89b4d-1886-4452-b3f3-46a3362dfab3 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e32a5e66-a139-4e8b-bc90-10456031e5aa phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1b0b3dc-8836-4a14-982f-8453146ff709 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5b61e33-a1a5-4859-8573-0ef4144ffff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6120db57-ce61-40bf-8861-f0bf481d0f78 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50905ed1-549d-4c11-b794-2587a47e3e16 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c29d78a-3e80-42de-8d84-ab4671bf206f phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21a2a020-ae62-45cd-a44c-ca5c5ecb88af phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7c62956-9974-4298-a882-21911cc6e6b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24f87408-228b-4a48-be51-a63db472f103 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:792b9065-76c5-4421-8c24-75afc1101f92 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:596aab48-d0be-4192-8a6c-6f6524786cc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bed45092-f277-4b66-b9a7-90a019446d4d phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45b52fef-8912-405d-b39e-cd19a983f61e phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e078ae70-710e-4d05-bb64-74a688f3e214 phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f18ef5b0-9f3e-427d-878a-ea07f51dea8e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e56436c7-b4b6-4729-8c35-608045035559 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39fe961c-8786-478a-a472-5966a4f7b914 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:102b719f-e547-4db9-b5ef-81d3ad3f075e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bc5716b7-012c-44c9-a71c-ece23a13139f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:af1a1e10-fb67-41f8-8611-0410120c18a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ffb7e6-9eb1-4645-ad37-fc17df7f7f50 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:541ff523-219f-4fc7-8bee-fd391ecc2865 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ce5822cf-d5e2-4507-bb33-ef21e73eff86 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7d0bde48-c364-4f6d-9ada-b74ddaefc64c phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:82465032-3830-4ff6-a79e-9018eef083fd phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ccff604c-12e4-45c4-970b-25e674e5b508 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:363e7932-31b2-46fb-8a8e-0e16557a388d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c130d049-b892-464d-9527-38054d4385a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8d75c0e6-5a98-4fda-967f-56e8f903c165 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf2a0bc9-03b0-4270-bc8b-f30d1ed73353 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2761460-feeb-4769-8f12-60dd70717f32 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4daeb6ba-eaa6-4e67-b8c8-dbaf3e325021 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ac50109-dc20-44c6-94bb-2adad23bc20f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6288ddce-0882-402b-afc5-0e0b210ef21d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bdebf8c-dab1-4393-a114-7285370e597c phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f69699f-cef1-4f06-8227-170b58a06ee6 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da4d561b-3648-48fa-8569-e1030d27b6d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b3731df-e443-4d14-8c86-e2ca35c8f2a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67e83574-ec4c-42a6-be36-2c5a7bb3222d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c136f30-da5e-424d-949e-c0e568364ab5 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5832de1f-12aa-4b70-afa4-6e338773d6a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0e480b8-065d-4a63-9712-d396582989a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8689bf5-1b53-4867-8946-c48b40c5dbc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4124d035-27de-4d05-b604-3240e99ded8f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a50a881d-6895-44e7-a0d9-bff7f2f1f941 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba26c356-48de-4b3c-80ea-0dbfdc837865 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d53600da-fcb5-40c1-a6ba-1149075a5519 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5740a40a-16d7-4a11-9705-e4a4e8c5ca16 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75967cf1-5a37-4c8a-b4fa-328a60b16f14 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e5239fa-5586-4956-beec-5d1ade26a534 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86c8e0a1-e8d5-4bef-a141-fd847958e24d phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fbcc4d0-0469-454d-91b4-f135b8b663bb phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa5eb3d1-40a8-4c41-a32e-078a5fb18a45 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d76d9acb-96e6-48a2-a048-4b795eac0145 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a60f9d7-9199-44c8-be08-07a73ca733d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d2194a6-9933-418a-9893-8bc8a69bb55e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9ef7f8f-8bbc-4fd0-be9d-9e5c05bc9063 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:381327c3-393f-4305-8ec3-7b89fb5bff09 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6559b607-4420-4534-be93-01eeb06d0701 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef7d0b70-f46b-437c-b51d-39dbab9b9258 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13bbe7a4-7163-4945-87cd-d952c4360796 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4cfd1408-e226-4e26-afc6-7257c8cb79bb phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46d95390-a0f4-4779-a508-7312f43b6378 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35ebd3e6-345e-4cfc-be7b-11b7b8410861 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00e4f5d3-004c-4b65-9e91-445ede0adfd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8dd32175-3eec-4919-a110-0dcd0c8cd358 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e935eda6-c7e7-4cf3-a937-d42a1daa8727 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b42b89d-582b-4b7c-b9a7-4518014da05a phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaa0c07f-478b-4294-adab-d71474663600 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61247afa-b9c5-4115-9ccb-80bf180f0f8e phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a81b830b-997b-4ac8-bc9d-cd0317f3f0b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50cea25f-80f9-4e92-bb28-7531abb187f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eea81fbe-5b6d-4238-bdea-64493e7e2971 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3fa3536-f0ba-4b83-85a6-03bcb56b380c phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:140a85fb-ca2f-481a-a495-d288b4b52146 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23af7117-fee2-4eaa-881b-58d9cb4a6db6 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3c61dc9-1cad-4e64-8632-91a50df3c813 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6d68cc-d673-4a4c-974a-d5724cb60c9f phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:034bcae7-8840-40e4-b41e-a49fb1b46303 phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d7b2d5a0-6b01-43f5-bc9f-d633d35e98ba phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7e6099bf-1c36-4c8d-af27-3fd66253114b phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:887098fc-f466-45a3-b38c-31a18930278b phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b25be9ee-19c7-45ae-b872-780c108bbaac phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b03de35e-c723-4a97-a8c7-9dc384ce17ea phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:481a4e45-86bf-41cb-bd81-198436c798b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bba8d25a-c641-44cf-8e52-f656249f7614 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e129c069-47ce-4db4-b52e-2c57574b27d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1ef23f7-feb6-4ec2-b20f-4dc483f32b39 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:708a909a-d49f-44bf-b4fe-e22549ace510 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68118979-d6b1-4ef2-b285-ddac543e16d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:44be5705-c41e-4333-ad59-fac47266ed55 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:679ac2fa-5118-49b2-9088-7461608e1e65 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4b49970f-63f7-425b-9028-f6e8f056404e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12e75e91-d079-4021-b642-67d980a6ff03 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf9bb01f-cd03-41c2-8113-9c8949412b1e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:71215e47-e5a1-4e67-89df-ae3785b4cf5f phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e669a7de-f3a3-4019-afb1-92671acc650a phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad2ccf61-00e1-40e6-9dd4-53b4a8126d66 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:839dc38f-1028-4c04-af74-9bc901a0c50d phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6af900c-ed2f-46b9-9b99-1847320098fc phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8429c912-934e-4360-9b86-ff4b0a540a17 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c86d6efe-09b1-414a-a2f2-6bcc2a03855d phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67f4fa36-0f72-4994-85e4-30a46b76f2d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a538b716-4c53-47c6-9298-aecf5e4115b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b389e630-d0ba-4dbd-930a-d574a0abd5bc phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4496248-fe3b-4f6d-a236-2d8b378ec300 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18d83fa3-77a8-4af4-8bcb-2624f31b86bc phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80460eb6-cf0f-4f27-a1be-0a06fdae453a phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47714cf9-4d80-4d4c-bad0-b2610db1ca6c phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c7e2165-da7b-4d9b-818b-3ca8e8ebadf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52ba7eee-a045-4f49-8a79-2cc17ec0312e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2c902d9-6d8b-4da6-add6-71c5e114b3a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45f07190-0ea0-4a02-8f42-04de7b6394b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:334c77d5-1739-4b1f-8290-88c2ad5cfbfe phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37e87427-9ce1-4295-8fe6-8736b0132a27 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:717afee3-a30b-4f29-9cc6-3c97e4fce9c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b17f983a-b357-4cc0-a87a-ec2b81f3e2ab phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9556f091-ec17-47f5-8c40-4c956d10c625 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b120b0ff-385d-4149-80e0-115fbcb05efd phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8338a162-06ae-4580-bf8e-fb1088863138 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fa67780-1543-42b9-bd17-227a4ae1c131 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:947bdb87-dd24-47a6-963b-6583f8d0e93c phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d27f251d-6c1a-41ab-9c9d-f1b73e61c466 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:921f895d-2894-4b71-a1ce-af1c8ecb08df phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08666777-df03-40e8-bce9-daa5836de7a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4ffbaa6-f80f-4754-8c76-1f67539836f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db95dc61-0caa-4e07-9b09-fdce197a6285 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25a9daaf-8760-4f64-bc5d-8a060be95087 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0760ec8-ef21-4a42-9a3d-ac03a552f164 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3f6da4b-fd47-4ac3-8fe6-85a9c776a28c phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1f61fbc-c9b2-4866-ab28-74ea95cabc87 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdcd9e39-7121-4945-ab17-5543c9a5966f phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9757dab-ccd0-41f0-aa8a-c02393913b1e phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e2c8613a-2763-4ac2-b1cd-1d6127a110f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ccc4cea-8cce-4e6c-845b-fa485b8c96f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd02f14a-a299-4c74-89d4-dbf3b83f9d20 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b16cfa34-20fa-4212-af3b-ce642eaeac68 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ebb382c-bca4-46dd-b4d1-7fda1eaa4356 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f95e894-22d4-456a-9b28-397a10b09e35 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92ee2a4b-3b7c-4c13-b161-14dbe28510c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15cdb8d0-6841-49ea-a21f-45ab6cfd5a97 phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d1656ea-32d6-412e-8a7e-cbdb34dc4cee phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92356d9d-2abe-4194-a79d-d9486750055b phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a02d1d74-980d-4db2-ba16-678127c95577 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7ed707ba-c3cc-4eea-a2ac-b773f88642e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1fbc8cd4-d390-45bf-bd87-ba8a2cef271e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb9e788f-e6e1-404d-acf0-05238483f5ed phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad86d4f8-8fef-433d-8c0d-fab6b529277e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:79b1d5cb-5d61-4e33-9571-01b0706c8c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5da21875-d041-47e2-83fe-a1bccd851ef4 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4cc0e72-6b17-4dd1-b17b-3a3806f29e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b014439-5784-42d9-a418-111f4a910c12 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8fd8cdcd-a6f3-4a77-9d5e-e2193ecc896b phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:55b795ae-2e4d-4b46-b925-99a9b31effc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:316404a3-fef8-49e2-bc6f-521ba2e17cbb phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7b45946-07bd-4469-9225-bd2ccefab244 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e311f9ee-ed6a-4a66-a3a9-dba2c33ccb5f phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bc25028-7e08-47a4-8278-23eb253e98aa phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73bb8632-8ed0-44fe-a7a1-704b7c2bcbed phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54f1c946-94e3-4126-9b5c-cd7cb5cf95d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c07e324-bbf1-4d96-9682-9294ec6813ca phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a7582bf-9c43-4706-ae28-6c0537a570a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88c12d94-1f77-4aae-b590-034fb59f377e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:002b3aad-b214-409e-9f8a-9f307928e94c phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1f46e16-b8c4-419c-9f4c-d827f1e2e64e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d35fbe61-bbb5-41fa-a0b5-e47c49165d3b phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ba31f6e-2ae3-4b7a-a29a-87cfae0f156b phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ea04a4e-ff60-405a-8915-67090dd1e7f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:904d7000-ee68-4ddd-84f2-a0caa066d0c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0865cd7a-5e28-467d-a6fb-b907fefca8e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfdef4b5-9a72-41cd-b196-994286e4b0b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00ae3334-8a4d-4b7a-a96d-717563f02798 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fffe9f1d-9d5e-4c96-96a4-e171225f9acb phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2987a428-3128-407a-9281-66f548db68c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe79b4a3-eb9b-42ab-9075-712c349eef0d phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:174bfd88-6275-4b00-8459-0d664c131054 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8e6af15-ff32-4370-aad5-5641dc419d08 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e95e8795-9017-4e32-86bd-c5e220a1d7b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:575047f5-3260-4065-a6fa-9136a4b62469 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf794f75-cfe6-4a94-9f21-7923d2e6855e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2125cead-a73c-4ff8-b150-8c284b3f2af6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f92efef-738c-47d1-95c9-72d83789ac0a phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca7d3f80-e1df-4c92-ac02-97f3ded27fc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c46f2dd-5951-4308-8975-f00140695585 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b57b74b-7452-42fa-aa3d-0ec64cb957ad phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7e39eb5-76db-4843-95ad-14d7e6f24c97 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7286f028-3603-4dc2-aad0-5644c2f59ac6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cdc2079-5e31-4186-857f-9a479d23ee58 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee328721-f0b3-433c-816d-3446e0b1b38e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7e6d588-1139-47b0-8b7b-9ca78771b09a phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73073fcb-db4b-4247-886e-3d1cf97510d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f01e525b-cc09-4d55-b8bc-760af5832553 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edd2b110-5253-48ab-b9c4-3efe3c698050 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46f14c15-e8ec-45c6-ab3f-c264b31fa8b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:888e6344-e07b-4a51-9617-1a63fe407bc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:067badab-92fe-46d0-ac9a-0496f33ca87c phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a35b9bc2-d0a8-4550-9414-24c52d6974dd phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9d05943-906d-4be3-af0a-9b7f4f932cd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4da494fb-f77b-4cd9-8eab-145cf1624bcf phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:821adb5a-fcc6-45c3-851d-bb4cd98f16c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03f93339-3bd4-4109-bb8f-19839c720edb phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06d1447d-3369-4e17-a69f-c1fa75a9b87e phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63089104-a6a8-4e54-930a-8a7c86cc4478 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2dbc9fe-2a8a-4b52-b4b2-b95583b495ed phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3de821bd-8e9c-43c3-a1e7-8f4c9bb68a22 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43f85a58-56f2-4e49-8cb6-08774ec5889c phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f16f544c-0d17-42e7-b34f-2cf3fe756086 phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0adb9413-ab59-434d-85e7-27c5bbcc383a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ede58dc-8504-42d3-94a5-af27173daab4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:acc916d1-cd8e-46cd-b2b3-8f551b0a9217 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c68831b6-7918-4d55-b9fa-6dfc3153a819 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:286d1f8a-d4f3-4db5-952d-a1233ec3903e phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f400e5e0-056c-454d-b887-399651099561 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:464c9f82-f3a0-4458-b1f6-61c0631bf27a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1dfd6ca6-4516-4ef2-8c12-82dce75a0529 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:236a483b-2ee8-4bfa-b25c-15121ecc9afe phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64925dd7-5ef9-4536-839d-7abfdf9c3fc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8660e63-f25e-4e56-9205-59bcd09f4c90 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:201e0695-2e5d-4309-a4f7-2277e945857d phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d28c90b6-77c2-4197-9c14-9234d9e7a8ed phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0bcfc496-974b-4d1d-8623-f767dfeeeded phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3686798e-0ae8-4897-97ed-d34f9f87b28a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddd3eb89-0d65-4acc-976d-cb6d48b487f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7e75c6f-059f-48a4-bf31-1b0ce4b554df phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26fbe907-6c81-496e-ab0c-f04d37f6d017 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c0947ab-f17d-40e9-8cc8-5c7065db0890 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31e486a1-5070-4db0-adb8-69fda734364f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffd4d38d-c692-4c58-9fff-5ad3d9d1384f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26bc0d86-b783-496f-a22e-9a9b51faba5a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b955a7ad-65c0-4fbd-8c57-d4142a23108c phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42939ec5-a439-429a-b53a-29d7ac1b3e47 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:715634b7-29e4-4b3c-bd4d-50e22019de03 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1387bb26-7834-4bd3-b0c0-fac49b6d9661 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0e9455c-5509-4abd-ae2b-fd994067f920 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:323def2e-fe33-4dd9-a673-6c393ddc3207 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98b8e504-ca72-481d-a38b-7da73d81c6d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bc9ed9a-ef8f-4639-8bc4-3c2d579047d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4443030c-dd87-4542-a1fc-fc3c9dc4cf95 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cd606ab-0439-47c2-8f18-8c67a83b62a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6445119-5120-4de1-8759-27f3aa73be5b phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bd9790ce-df50-442d-90e3-ac667c6b6a10 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d3c6953-8f8a-414a-9f6c-8c7e8096fcb4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e904eaba-ab5c-4854-8a20-8ff830e04488 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22d7263c-7d7d-41b9-8d76-cafeaf3a82bc phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a3cf2b5-1e24-4fff-b73c-853899e23b90 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4573d6d4-bc35-4a67-b1e0-315e4c8553f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c0d87d3-2c05-46b7-8f22-ca68b9f5ffb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89cca53b-3e86-4287-935c-b1c901218e4a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb7f3d83-3ca1-4546-84d6-91f46525d6eb phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a80eeccf-cea2-4fbf-930e-0bc0ea501d97 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82338303-3fd0-4538-a802-6cf4b656888b phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:205e220a-c076-4bd6-a944-70275448feba phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa034e16-5507-4271-a1f7-78b643ae5cab phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5ddf467-9b87-4849-948c-406ed3d4399d phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef88dde1-23f5-4a68-ba78-144bd00e3b7f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd5c7621-47de-496e-8b08-610a5a772c1a phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5dcf0502-0f72-465a-8a38-f8e915306ce0 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f6e66d4-363f-4940-b5bc-9e448a6ccec4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f70c24f-fb6a-4fdf-a009-eb5591cf4176 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fd360db-50e8-4bd6-b8ef-98fae602276b phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4dcb61ab-88a7-42b1-a08a-ce46284fc540 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:617e8c90-07fb-451c-bee2-29e55a0bf30c phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c57ba42f-511c-42f9-bd5b-bcf27ec05035 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8eb39b5-ba7a-4bcf-8bf6-2b83d1d7f910 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:696f779c-e3cb-4202-8205-2a61cf4d7642 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8fb4e81-481e-4bbb-a6c4-fa6097cf5ccc phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:971cfb3d-981b-46c4-90f6-042044aedbd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0de3a08-3182-4897-a2bf-16ceb01db285 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e57ab0d-19af-4a39-b5cb-4a699b0a0992 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3b9a3a6-4c6d-432e-8b05-5aac2177e98f phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeddf7a3-6bbb-4ca0-83fa-f48b9e1b7216 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063e2411-35eb-451f-8f6a-6dd39e2157f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:19ad6245-ba8b-490e-911c-64b148f801f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:81976d5d-c312-4994-8179-c4f13977aa31 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e0b7d6ff-03a1-4f85-9290-e8bc355e34ad phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ecdbb4-d537-439e-8947-133af8c4d989 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4be382d5-f80e-414a-ad4b-7f2d8f8ee8b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:07d9107f-b3ed-41df-81ac-891798243e87 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b311cbf-fab0-4c55-b039-f36b07181ff5 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a226a733-15c5-4d62-a66a-01032488b174 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8af11751-c17a-4763-8c77-ece2b6aae426 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a5888324-8e97-4fc7-9a0c-118cd3f0810a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28105bd1-e149-4dc6-a3cd-db2591dfd01f phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d0125754-1cdf-4a3c-a441-8a9960f58a42 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f6b76e18-b30f-4d44-8bb6-262031c06852 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bc5dff8e-ece9-40c8-a0bd-a8e820cc9919 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eaa32c7b-b996-4a26-9e51-e8b050e122d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d0ec02a-2182-4c1c-a788-88ca17677a01 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45da332a-0a70-4e84-84eb-e59ac2a9fbcf phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3ca7d20-6227-48fb-a389-334ca281d9d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f6bfe3f-6789-4a3b-bc35-1941f4dd80c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:590b7780-9349-4e1e-830b-c137b7463611 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9aac1d2e-737f-48f0-982f-144305ad422b phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88f13b26-947d-4e1b-8c84-848521cab420 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5183732e-68e4-498d-bd8b-21dce06e396d phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dda67f6c-b779-43dc-81c3-200865172f34 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:722d59ee-63a0-41e8-bd51-03cdaad95b02 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58c64c1d-6fd7-404f-b1d9-8240cf6a6239 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88252fa0-1e9a-4a29-a05f-aeed0e1c1f46 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3caf0e92-5667-4be6-9e8b-4d4e9bf102c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4418d99a-1af8-4385-abdb-7c2b9ea397bd phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1b2437a-02b1-4ee4-b97a-04e164331845 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e4a72b0-1ad7-463b-a1da-96b8bd55e42d phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ec7eb3f-958c-45a3-ac3d-838b870a0a67 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b349376-faa3-4545-ab66-dee48c9bb9db phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:575339b5-d63e-45d6-a4e7-766b842b8f75 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8273f24c-817c-4dc5-8468-6959f4388d83 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73367072-8a98-49fa-9ec6-a7e09448de95 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e63892e6-1a18-42ba-8f38-e0336682713e phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92b1c1cf-e18a-4c6c-84a1-c976f2b062e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fc021b2-2483-4846-b8bd-79311b508cd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2c2a7df-de68-4da6-a3df-a10f6d84738a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9a74b70-b5b5-46f5-ab26-7eec5e244b8a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1b6444e-a6f1-4a8d-8ed4-1c3ca79a23a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1edc401f-b004-4a90-91b2-358475c9f9da phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:603a01cc-c3ac-4966-807c-9eeab0047ead phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7bac933f-678e-4a5f-ab89-12981d7befcb phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:233f0f71-596a-4fe7-a4f8-cad6aafc85d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:337bb1a3-c41a-4361-acfd-a4c7cace074e phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f00909e9-40a3-49b6-95c7-0e9c161a81fa phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ce7b794-cc80-4a15-a125-544519528a0b phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11344f45-a1f5-466c-9b1c-97eeea8a97e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bd810ce-4577-4cbb-845f-70fdf26287a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40bec23d-3c29-4703-8393-42c598a309ac phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92f86b46-227b-4c9c-95f4-4e4b16f63e04 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bfe5334-2071-45e4-bcc5-c5b42e7fa882 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7abe6a9-0d72-45cd-a346-860ff6a81d55 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58ce2d84-5f06-4fc8-ae99-b6efcf18e021 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e44b97e7-5ab8-46cf-a54a-e42fa990aa87 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2279fe51-2221-4d2f-b86a-375a439e7c7b phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ecda599-059b-4e91-8903-90415bdd1f0a phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b951bf22-8eeb-45d4-bd0d-ecccc37bc4f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bcb4d775-7ba5-469a-a701-ed0dd337aed2 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eca6ca7d-3caa-4f3d-a68d-b79528158739 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:575ea3ff-9640-4dc6-a2c1-5bd4b891d72d phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ec85595-b1ba-4c06-8a67-6b516c3b1466 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39b37685-0d63-4fde-8f3e-83b8951d6477 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a374f49-988b-4391-b58e-02a6ea86edb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f1d9af8a-9209-4e5b-9556-1656d5581d6f phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1d060c7-445e-483f-a62a-33b2401edcd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:afe36cb1-fa9f-415c-bc7a-da2bd13c15ab phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a3508159-1a30-468a-9fbc-1c43b88c5552 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:40a474ba-3811-400a-8882-206789a75ad7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:846b3add-61aa-48f0-8519-1125196ea39c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a0c0ef65-9119-47e0-b0ae-211941daffd9 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4b2637b-a258-4c72-9ac3-ba191fb898b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7df0a18e-b55a-4c2a-9e87-fa959a4140d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1b1b2899-2aec-4fe4-87f8-d7f491fde492 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7dece438-bb0c-45d1-abb0-f02d8983122c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:88e08620-6fdc-49c7-8349-211336aa3e8d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0fe7493f-796d-4465-9b50-cfc13cc6743a phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96498445-a3c2-4b32-8f8d-2ff492c9654b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:90259371-80a7-4c82-a432-031ca06c20f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab30d190-9a01-4a6d-b928-675642db2b7b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:563736ff-84bc-4d35-ba81-cf316d6234bb phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:08430103-371f-47ad-b1d3-f6a0afc7e3c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dce5b03a-9727-4e7e-b30e-dfc31d4ebb6b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab38953e-6655-42b1-977c-bca9399b1fcb phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb1a959b-ff6e-4130-9035-3d0a9cfcfef3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:238906b5-a9b0-4422-8ad5-5f911f41adc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4a20c94-5591-4a7d-9868-2a1dd0c6abdb phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93964b7b-b54d-479d-92c3-e83d512de110 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe0e6ed5-d6de-4982-a1ce-1468d83bdb50 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c4ba1a1-2111-46df-8e1c-9fcd876a420e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2365fd47-c990-4048-8cfa-94e121696f09 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bea6a452-99fa-4a67-bad0-8e7dff2c2224 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5410c0b6-77e1-4b52-9674-664aa93d861b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:534637a7-6823-4140-bb67-42af3c830ba3 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efb2900a-b560-4adb-a10e-ad430e5be23d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:741cd95c-cd97-4713-8dd1-b0af0accfe5d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce13cfa4-ecbb-42ca-9f14-bfd0244d9d52 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ba962ae-6c1c-4222-aad6-3ba75ae4d90e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fac7f941-9edf-416d-9448-d7792e0ab858 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fbdedfd-830c-4b8e-8a97-b8b5c4d6d655 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33a979cb-9bd1-4a33-84cd-2ca937f3af08 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e561c82c-bcb7-496e-be99-f447374fb59e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84751d20-b35c-4ccd-8eb8-54c731a24be6 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83ee7f5a-3bc6-4e74-a5e5-7210dcbf0e7b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74876937-9bf5-4d81-a88a-a761eaa73ae5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e56e999-7896-4009-a063-ef22eb5fe421 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1f35da7-b902-4f75-9e4c-96374b864068 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fdd76fef-9385-4252-96be-7f3e30cc7b98 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a079825e-8a76-4194-a0fc-be5d53124868 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50916bf4-02f2-4756-9a2c-8a84321b709c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb0c9a56-2a11-422d-832a-20ce090f40d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6be7ae28-cb96-4035-b9e3-2ff8229553b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:149bda0b-326d-4c2f-8067-7dbb3d3542b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb3d2474-87ac-4249-b316-8d118077843d phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afa05098-7c61-4e6f-a599-2705ac3996d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaefc3df-e38e-4e77-9a06-0df07499c0e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:352bdc48-d44e-4940-a8d5-3c09f4f61fc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd51138d-cfaa-4ece-95cb-0d0e35a66fe5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a647c40-3b9a-4924-ac9c-4a19fba7582b phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cffeb4d9-9c45-42a3-a1b8-c8ff0265d86c phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0a3b8c0-709e-461e-b1e2-b606b305e3ec phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7db27c4b-1055-44f4-8b4c-59db8c3434e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d616cc1-1e07-480a-bb87-eea28dfe2d24 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ffefe74-79e9-41d7-a856-33993c039232 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c07ca72-b8e6-4c64-8dba-44a8ff40fcc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26c5aa74-3a8f-4749-9358-fc8ca70b07cc phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9678d993-6564-4e35-964a-04f7519fa26e phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9635c4c4-1013-4f5c-9c4c-9c0aa5431157 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e8399df1-97de-4b08-b8f7-63a444f123a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:61df4abf-76f9-443b-9d47-852292abd82c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29872562-0415-469e-b229-d060e2391e8c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:793ba37c-78dd-4fcd-a99c-90b6b10fcfde phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:adaa25bb-16a5-4ef2-9d1e-f2e889eb5fe1 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:be3a06c2-7aa8-4415-a9d7-2a69b13917b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:efa2b540-c7c9-41f7-9b0c-84643918e630 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:123716af-8125-4aac-9755-a7a8b8791513 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:505adfb1-3cad-4043-9c28-3a28c7557a46 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ae313295-5a20-48b8-a162-1d19000bcaf2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3f18fc30-0a74-4524-92f9-43ddc4f70c1c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fe5c38bf-6797-4808-85af-640496a46a55 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0cbff9a6-b881-4d36-b193-42b902a71496 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c6150ec-fbdb-4508-96c3-9c2b640438da phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:56100f04-d11a-449f-9dbf-aee245de32cc phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e3a2494-011d-4897-9afb-c9a9589365d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d199ea27-559d-42ca-8e3a-59ed2a9fc1a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a5f2d0e4-f814-4213-87de-928de14ded54 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f21db8c6-1a63-40ac-9cf8-a4c2ff480264 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:739d73de-2af4-43b4-ad09-a80bec8884f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:06ee5f15-ec9f-4b7e-9c6d-a34ecaab1550 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a0aba4b0-f687-416b-a80b-7af37fe6b851 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6467549-f8df-4e1a-86f6-35ff2c0fbf1b phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ad19fe7-ee06-4a76-876e-b507ee9f4266 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ea1b683-91af-485c-a43c-e8de8ca86be4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2bd74b83-3384-42a8-8a71-1e56e8f75b75 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:59cdf52b-2bd3-47e8-91f0-52fcf21d1ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e50604c-550a-4e59-950c-ecb3a47b3e62 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11c9cd78-3d2e-4e13-9fa2-a8496bd5f112 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b90d3aa-d06a-4997-b037-d45d3dc2d0ea phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:790e76f2-3e5d-4497-829c-4b3c7b792f22 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:140db87e-f7b8-4d67-a317-9a4b430335f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3919444-4bd6-4c1d-8c5a-123f5004a92f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d38c3f9-292c-42ee-8abe-25a83d75dbd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8af45c15-2125-4c7e-a9c4-c5d85421e760 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fad53cf-f9ba-471d-b359-fca16208f881 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ead7be3e-574c-43c3-89b8-7aa553a60344 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bcff0f91-e58e-48be-8408-b1a0959b4336 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5b1aac0-c8fa-4cfc-a356-f26ca32f4e7f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9f38812-3304-47f5-84d1-73212f766f66 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f62490e-d3ca-47d1-8ca1-b1988ee1fc8c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0d0fed5-dd79-465e-8ed4-49c66fda1cb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42ea82d9-284d-4fc3-b562-a9ded03b96ec phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd230c20-7c30-446f-b90c-209769d76e17 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75918ca8-fae0-42fe-8a6a-ffe37dffe0e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22c2c370-66c0-49b0-9611-1f07213e124b phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28b54072-8610-460c-9e95-503ccfbea030 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00812977-8eab-4df3-becc-8eef57030098 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:855e2a61-0881-4e55-8102-5bb72e4a854c phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b598cd26-418a-43eb-a1a8-48f3c73a4133 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1405ee43-7213-4a7a-827a-600c5cf23e07 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9daa044f-f290-4008-884d-65d5c67fe039 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84c0eebe-93e8-4edd-8e45-171db8dbc229 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc3ab07c-dd5c-43b2-bbb7-e8bbc15c49b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dde13a0b-ecc6-4bd1-86d9-31563f7bcfb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d299ff3-18d4-4fe8-8528-39245d61fbad phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0194c85b-2443-4f80-ba49-8395236ed76f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cab4b52-4041-451e-a1d6-b3fec2060cd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b68a488a-b593-4e21-910d-3ed0c7fb8b9d phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cefe96e4-c008-4108-ae07-d24600a50edd phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bffda97f-a062-41aa-a984-0daa822d8b5a phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3129edd9-fa8d-4c79-9888-9c93d0d4089f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58c6c241-6ccf-43b8-9621-afa70908365f phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5484c896-3f13-4a39-92db-e573cba163d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:162d8fa7-d815-45c9-9c49-7b59a2c3a40a phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54ee1765-5a53-41b0-a5b4-67204e1fbfc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e9e6f16-67cf-4dd9-8089-95763ad35df7 phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f7b5b283-7016-4611-a169-2f8bcc7346a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6288c281-21c3-4bad-99bb-a121f56300f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc709317-9329-486a-9238-618478a782da phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5aa1f308-060f-4aa7-8596-8d1ab0cf19f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eea44508-ad0f-4887-9392-18a3ac15f07d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f72a1d18-41d5-41da-8551-b26cd6d76755 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a062a2d8-3a18-4cee-8b3a-dc1186678d64 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c117c3b0-5093-4500-b826-552bf8ae552f phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:51406538-1d53-468d-9ae9-3b8eb991d08c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0c26768-2947-470e-ac25-26cf9f44aa46 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:747777da-9167-49eb-a782-68e40c6b5c48 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cd0e461f-0d56-4834-8538-f0f0c5c10234 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42855c1a-f4f9-4703-9d84-04ed0736af34 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:518b6c51-cf5a-455c-8898-bf77c8edb182 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84b071ff-2de5-4746-9993-07e2acbe88d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:689abf35-81a6-47a9-9843-f7283a8959d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ae1652f-f397-44c2-b436-690eb53a6cb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9c2094d-77a3-4204-8e4b-884bd30e3f54 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4fbf3e1-0ce9-41d1-8bf3-a3c3ae429bba phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a19ae74-ad26-4376-a203-a643f629be0c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09814047-9327-4348-9625-a9ac5f10f02a phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa0eb419-2ad7-4731-a5bd-6717969c9b20 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76c0e717-4988-4900-9527-9cc26972d148 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70b015b0-f6eb-467a-9ed0-1fe16b548644 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfbf96cc-3f53-4016-8947-a3f320e415e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6673c9cf-fbd5-43d4-9c96-f1792e58f6ae phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c5869ec-3ff7-4498-8636-087aef83c6cb phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26426a5a-c14a-4505-80a2-8915ce5578e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bec0c5c-14e9-4462-9185-c8bf297b9d74 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80410f91-32bc-466c-9705-1a036f8b32a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:115f033a-13d7-4ede-b1e6-eee82e97850a phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0b7b1a0-1d0b-4415-87d1-0b795ad12760 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a58a7040-bebc-4f68-84a9-3f4e8e6f3f53 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d1b5811-6847-4b7b-85fd-9d70e69ce8e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c69cb95-5d9c-421d-a150-4a84aa602f2e phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20da98a6-571d-4fa3-a797-6e6828d9d86e phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b3903de-9a0f-44b8-a154-8a2f28dd2e23 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fee734fc-6a39-470a-a898-fa9e590a4bb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95db4793-b7bc-4e0a-a249-f9684107b2fa phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:07e84318-6833-4fd3-bc92-89500f1781c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df528d9b-ee85-4e08-8bc8-eed7dc6ce709 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18121dc5-f811-41cc-a714-26fe4172cb6d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee5c185e-21fd-47b4-b7d7-1ed0f54139da phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21ce115f-c2fb-41aa-a135-d249eb1ff167 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a567db14-157f-46c8-8888-32056e769d7a phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45c84f1e-ef8f-4da6-a439-f13aa27927ac phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e207c347-d739-4dbf-ade5-340172874a9c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d002c80-00a1-476d-ac2d-89f758df069d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdf4f71e-d7c0-4334-9630-c5d8d8251019 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef0f7f68-b8b8-46b0-9b3f-4c3fc02d6587 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02090174-5ece-42c5-b185-f07e0127554c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04d1bf9a-a673-42d5-b349-0044850be5d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13baf480-41d8-44bc-ab4a-3ba13d0df9dc phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b16c5a5-af7d-4a0d-8d5b-b1ea1185362c phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32e8dfaf-419a-4cc7-89f8-0d1626d59f5e phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d1c5359-ac01-47bb-b114-d999099fab74 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c292400a-86ce-413b-a811-9ffbcad33e8d phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a32a7f92-510a-40e0-8944-6b8c591e6abd phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db4ebcef-b43a-48d6-aea9-77ecf8a51881 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea53635f-5a4e-4944-98cc-1e40594391a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3dd057e-da0b-4b36-a2d3-1cf835ecf805 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99356b06-a915-4867-b883-80ea274d91f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a8d1d5e-d5b3-48dd-8dc5-707c6ea2bc15 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d30a93c6-fe43-4913-a1b2-263f931ebaa5 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af29b186-c41c-4841-8b13-8cc9d6088480 phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ca3fccd3-b473-499a-ae7f-441dbf93fc6f phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0de23c1-e457-4c85-88af-ef3d7837fe48 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a4bcc3a-bb7a-4625-83f6-19bc77db9a95 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:48d6fed9-04a2-450c-b751-03051270ab2c phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1835c229-66c7-465a-b13d-7211b5786b07 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:62ec0ac4-91d4-477e-a792-1ecccb45d715 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6afa323b-c81e-4ba9-83e6-ee7ef7186ce1 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e45d12df-106d-47d3-a480-fb90d26204e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab16654d-6ae7-4809-a477-e77049ec4a4f phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f844f8ef-687e-42dd-b96e-a097dd59db52 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f7a4354f-efdf-4ed9-81ab-b0a415210f60 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3c6aa89b-11e9-4d6c-925e-c5fe626e7c6b phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c15ec66-84af-42b4-860d-810eb9114345 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:566bfea8-53b6-4aff-a2f8-6b6b3cf14117 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aed40ecb-d8f7-4554-9f2f-04615e0eed8c phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d92240d0-4dc1-4c73-831e-fd0057e6e1d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bdb662f8-2e9f-471f-9e12-b75ea860a0bb phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec351d2b-8d15-4ec3-b3b1-15d8359cda4e phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d129ff07-40a3-486f-96f2-0762e766cb61 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d8cd6835-37db-40ea-8d6a-27ce0d3a3ce1 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff0b5d6d-2eaa-4f0c-8e84-a471a1a386a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eef3c810-fb7a-4bf7-9707-34a236c466af phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3404cab-167a-4d52-87a8-a28e45a079f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:002eee5f-af68-492a-86ed-734769206379 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:226b2fb2-8246-4343-a13e-f46d0f9eb3a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a1191e1-8f2f-4f6d-94b9-26c37b59ee0a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d02c06e2-d9db-43cd-a5b4-b6080842d09a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1eca1e72-7df5-4d4b-972d-76eaffaac5b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6afc32eb-22cb-401d-a235-946b0ca3a7f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8454c008-0fc0-455f-8702-80743f8e159a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46997a96-c8ad-4093-89d2-34b57373706b phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb1683ea-c971-41fc-bc38-67d697f81b56 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b08db4dd-1556-4858-96e7-d01b14b04ae5 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97b764fb-c31a-4da7-ba29-5b0e2b6cc003 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c1f454a-e0c7-4d36-b2d5-33082ac9c024 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e3a8b3e-e532-4eec-9e5c-6a8cc57d08e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:affcdb4b-7f94-4e8f-a8d5-15e4e6d773cf phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15906cbd-20a1-47e0-accf-a25d450afc39 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5a50acf-da0e-4113-a696-6f19b7e96d20 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f30d5e8-1f84-411b-af85-e9bc19f5e682 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fda6090-6051-4412-b0ca-39a183ea18b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:758c681e-296b-4574-8c9b-936a97e438ae phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35d86e0b-daf3-4ba9-9467-73e9fe28cdf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7c52196-4ba1-45a9-a149-75e89ffbcc61 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a689782-63ae-40ce-95e2-059475294d53 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:336dcb16-4410-4f8d-8608-0791d8bb13d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:395d00f7-17a0-4c28-8a31-bf7651362a79 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6aa9e9c-6168-4e16-81cf-75bbc15008c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1e991c7-61ee-4e13-bce4-e9d36ea1609f phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b9c982c-d06b-41de-ad1a-8bc443ef1725 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ccd7dc2-76e1-41b0-9893-4632c0270d70 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f1a3509-dc63-415e-b264-162280fa2324 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1aca477e-f5ae-4ebd-a7eb-de0b78a578d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3287bc63-2a94-4a14-88ae-098fdf4c2502 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:feda4fb7-c31d-4abb-8af4-ad0dc4c82d1d phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:62825b63-8193-41c7-817b-5985c9190a78 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8450ea86-6f51-4081-bd4d-03033b0d5d2b phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c111ad66-abec-4b0e-9eb6-2b3a1ee57d77 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae64ace8-2121-487c-b6a4-97bcf5d76cf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:179e84af-ae4e-45c4-b668-fae6143e85a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae0341ea-5bf7-4d66-924d-17fd5faf9c1a phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cd98b2b-86e1-4568-87aa-f83b86b03d89 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a4598e7-6143-4b97-827a-9315ab9f89fe phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bacb1bf0-6a6d-4cff-b12e-86125cfe8fd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a5cc7e2-b8e6-4a28-b271-3a3e794c336c phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a8185f01-eb4f-4b0d-a55f-ee43bde78047 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:152e9487-54bc-4915-a031-919997b9dcef phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bd66a954-cb84-4adc-b034-623ebc155c9b phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e2121b61-0e9d-4c30-999a-5d05634db16c phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5be53083-6727-48b2-ab2f-850908d42470 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e700fffa-4937-4280-b0ea-f3e38911d570 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ca047437-583b-4b35-b405-cdcb4c27599a phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c1937001-baa0-46f1-8d17-6999d547df2e phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef0e881c-a653-4c00-8504-0e27fb0f0840 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b2be56ef-91fe-4b5f-aa3c-a42e7b10e004 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58f621f7-12d3-40fa-9853-103569b313c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47e963d3-5a67-4308-94fc-82f65d58afc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:034c2e50-02ca-4486-ab15-a16de85cd97f phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4b33acf-4d6c-4554-a3e7-d03f6f593b6d phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f98f9b04-5679-4d37-ab70-a00dde5cb3d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1e996a8-5dc5-4740-b5ee-27ff49c1ad14 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e96593b4-13fa-4f62-adce-fd6029fd0fe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d60f54d-5009-4285-a7fd-2ca346194a29 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0f04cc2-0e7e-4467-a182-d833cd30e727 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61a1c1ab-3ef1-458b-9825-de3e049f27e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b23c4e0-78fb-435b-9c32-22f4789b8e06 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c289267-bc93-437f-8972-fb7f6fddb58b phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9738e664-a8de-42e5-a07b-91168a9437f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:087910b2-1e29-4c90-a052-32fa77ba6b35 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7bfd0574-81e6-4baa-9813-4c4014b7c4c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:826216e6-d108-461d-a74f-aa91d87b52c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8e5a36b-3b75-43d5-a5a7-7a863e40319e phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b5e3ff5-f155-4953-9a49-de427bf3c219 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e80a140-d231-4f2e-be58-c3b6a1b40063 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51f3a9b3-657d-405f-93be-74dd62a596de phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:050a4c7e-6f97-4fb9-b048-e3227ebdac1a phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bae66167-1715-4820-aa6d-c730d2ecac5a phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad5a2cf7-1929-48b6-9362-18581a15a278 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:468096fd-aba4-40f8-b8e8-833027f37f85 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10d6a664-c365-47dd-a462-cd3afb976f13 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ba861a4-47b2-4b43-a4de-4d401cc79826 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b1d8a34-7b41-41a7-90f2-a5d0a4ae6e5e phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e87c236-4403-4797-815c-7251829e0ed7 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b24233f4-be61-410e-8939-958798c69106 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8767f490-5034-4239-a4d8-b0e76be43973 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8709eed1-2c7d-4511-8ab8-17b1f0bfa6bd phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b35cfaa3-785f-40eb-baa2-b528fb41f3c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f17c2628-9ea7-44f0-b9fc-fe913b971fa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:526972e1-3b9f-4c91-bd7d-ea2763d41dca phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4fa476bd-fc74-4940-aa2e-2d1a4214d732 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13b7f989-f51f-4cdc-99c9-eccc23295d32 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29e38ce7-7916-4e15-bae4-85596cd48536 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03fcddb6-932d-4879-a197-baf5ef15cf34 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d2ff17c-bcad-4be6-a944-d805702a88f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:196bc149-c7c8-44f0-b150-c58ea817d102 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02f7a050-6b1d-4ec1-996e-cdf181a23060 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa52f1ca-1492-430b-be4d-038b2e8791f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e8b42b41-b408-41b8-9167-cd1806fe333f phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30a47a89-17df-4ac8-8fae-aec5707ef76d phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43349275-608e-4c29-b9ac-9ccb7c752a2c phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0de05fd-7a12-40a5-b946-ec645dc597b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecdd2c4a-55a2-408e-a1ab-f7f86c5b7c85 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:104a2d50-c2b6-4b8d-acda-fe9e3f3692e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd3a00ab-1100-411c-a2a4-e61c8573dc35 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f533720-0408-4926-a65e-97e2454ff2aa phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c55a6ec-3314-4df4-9c3a-e988d0919da5 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1eb36a94-32cb-4061-b882-7ec6c0fbbeaf phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70c2cde5-c720-45e2-9790-44aa4c7472bf phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08c9428c-8ba6-4be0-a5e0-34fd15dea299 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e9f95a0-16c7-4b1f-9241-4fb380d53f49 phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:190521c7-38e2-4a4a-a0c0-607617f32135 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e06ff9e0-f77e-4980-83ff-78f9f7d32378 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b5ac0275-5cf0-44b1-8558-ebeff61f6310 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:163b36a6-c7a5-48ed-847b-11c5f8ae8d5a phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:424de462-35ef-4f4c-b04a-e6c399958ea6 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db35ca6a-5c28-4c8e-b4ce-51d7e4616f01 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5224728e-e8c2-4cba-8f71-b69d72d8e76a phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edfb4b2c-28ea-459b-ac5e-ed33cee2d752 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bed2ab5d-dda5-45c0-bb6e-628c1f81b3d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:524c84eb-4ad5-4647-a8cc-025215f8d309 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38fe4c3d-83f9-48c0-8b2f-5e884824cc51 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab8bca71-bb5d-4181-9744-365df0247f77 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1da681ba-42e6-4bde-b61e-fbe47452133d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:653fe6b0-418b-4b71-9929-50b96bb2bcdb phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b93e4f4-02be-48bf-984c-fafb8a036618 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96e302ea-cd0a-4b74-bc69-8a214595e99f phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22aa215d-0e00-4644-81b1-e98469a2cef2 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c2d1c3a-8d4a-4961-bc07-f74d0b9a6a09 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43bf77b2-3c4b-415d-be77-282a4fab9e18 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9be312c2-2571-4abe-91ed-aeca41a6b06e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1d2f67b-c594-4874-b49d-164321472ff4 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32fb5c0e-0f48-409f-bd6f-d2f9e7ea1b2d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a06ff145-1581-49cc-b52f-51ffeab5549a phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cdc02d4-5834-4b35-9f98-f8a3fa424e06 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1a5fb67-d497-482c-8564-ea75ce900224 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0c53c77-5e1c-4cfc-a07c-3e2eea5c528d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaa27241-5676-4971-810c-4b4bb338a2c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:144f673c-82a2-4ec4-b182-96c084a1f7d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d69db266-d811-4710-8d2e-9c4bc692bd90 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd38f7b9-ddc0-401d-af49-c9151962684e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cad373e3-bbbf-432c-9a8b-4df68c4e62db phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:174a7ee1-49cc-499a-9602-523ef3dbb5f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d43b6df0-0492-41c7-bb54-0ed490e8a6bc phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:213c0d42-be02-442b-99a8-654734053a11 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6b1460-101a-4d40-9053-136887c865aa phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5c1b019-9d57-4d75-a885-c487c34b5f4c phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9f750b8-369e-44d9-a1cb-3f45ca5779f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:021a2293-a0a6-467c-96a9-7ad03cbd79d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7734578-f141-403d-bdf6-b008074554d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d5c456a-4735-4e86-9192-0e3ee5870a1d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac93ba56-56c2-4bd3-9688-bbbb0b883a8d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d911a4b0-327e-401f-9110-a4a80d262710 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ca925b4-10e5-4a6f-a151-52ac8172dae9 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ca40078-de1b-474a-8390-78b9d9194234 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76faf81a-2671-4cc5-90a1-aabc1a7bdb2d phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96bac752-e6ba-4099-8297-7bd3683ba3c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0477128b-f09a-4632-955e-555fb122e558 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b67a0aea-c988-406c-8d47-0b2e53324303 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9fdc408-15bf-4dec-a5ed-e45661b58d32 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e36f48f0-3e2e-4965-ab89-c184cdd820a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f97cd9f-5c84-44f7-894f-f368b108b123 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:831ff29f-7d81-4630-80b2-109e3f33a6e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dae343ff-c610-49f5-9d5b-58ce846c0a59 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31c50340-c6b1-4812-812e-534b3ba3210e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e181007-b671-4ca7-837f-94de48a12800 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81fd9886-f885-4056-8fae-58e1b8f532a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fcca846-7408-480a-913f-339e3d922a8e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:283f8910-5873-4925-8936-611765a3e0fb phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98897d3f-f3f4-4296-a516-c4bc43379bfc phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:667d67fe-586d-4ccf-9391-71878d9d969f phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6b144b8-dac2-4b88-a2a5-cfc211456a0e phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c3427a7-2c21-4421-8e6a-585133f8f8bb phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a76a6a7f-fb9b-4dc7-b561-d2b0d6826093 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36ea2ab9-6c86-4989-9a45-6b08ae0461d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cddb5ac2-65f8-46b9-9a58-c1a23c659a66 phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:e4b61586-8fd4-4891-9a5b-0cb8679d76ac phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f52db8cc-1dfc-4eac-aeac-822de084fdc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36cc11ed-ebe7-4d36-ab68-cec3de27bc5f phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1bc18a3e-d7d4-449e-a961-d0217f29fa6c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:09642799-f43b-47a8-826c-bda17f591551 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b0fc1f81-d7d2-4778-b97f-9c3035e8963e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:888c5ef3-e480-45d0-9a04-aba40e677411 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e652fd0-b561-45f4-9e44-4634f08349c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f063d89-b921-4f9c-9f0a-6530b0876725 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cb6a7d5-6347-49d9-9c4f-acffa1d0bf89 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e68ec837-de25-49e0-9c14-4d365f4a87dd phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e17952b2-58ae-4cd6-864e-5f5b577e48cb phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab5979bc-941d-4049-8f8d-7aa8d1f2f696 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d7d85483-88f5-4efb-8c7e-d96f02112bac phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:deeb5ed0-eda8-4fde-aeb8-8240949d920c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fa8e5077-b727-41b7-97ad-675be3350f6d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9e4b5aea-54cd-4422-b8db-738e6c949fe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fd148714-0718-4e5f-8334-bf0a002b6a5e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d081b50c-fd06-49c7-a98c-6d17e0997107 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:85f5a8f9-61c8-4524-b5f3-07e15bf39617 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a57c117b-b5aa-416a-a3b6-21577cc5c475 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28c17cca-2396-4498-b1a2-2bb8fb4af1fc phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6ca67e2-90f6-48fb-8624-c1dd2d3ea275 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d8fad9d-4baf-4e85-9e5c-1dfcfcc22b9d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ba181d0-1d26-4dee-8394-ae6233b0614d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:229ca645-5542-4450-9561-7a8ef6b90178 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:583e5b6e-d847-4873-9dbe-a24f95510498 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11ff9855-4901-4eea-9290-79955341a1f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0a7aef45-372f-4584-9d85-1b4f42f9a89d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9df82770-7900-4a55-bdae-0bc1b4db855c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5cb7c96a-e495-4db9-8db8-7b08bceba341 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1fb9a5ef-ba87-4046-a528-3640f3654eb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05635a35-6e69-4335-b1be-f9466059c642 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bf0c16c-faaf-474e-be91-2ee52bd4c0ec phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6e06dcf-044f-4771-b60b-eb566dcf7a03 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92eb03c2-2310-48fb-bb8e-d0ec950bbe49 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f31e38b-5e67-48ed-acde-f50c9123aa55 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f65473bc-4ae4-4805-9fd2-63907477b44b phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:394f7d42-dd42-4066-9833-da8f4ecee85f phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11e72635-d86a-434d-bbb5-04c0fb455f5c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46e4f0b3-252e-444f-9fde-866999b34155 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67771005-dbd1-472d-8119-15dfcf0631d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69a7a8c7-f67f-42f6-b8cd-60d0757a1eb4 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3568ba33-5994-44b0-9034-79df33d0b19e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a061b279-5b56-4c9c-9384-37c7d711530d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55c61f9e-7271-4f34-b412-df31c5f726b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5b64a50-6d14-4da0-9e35-a4f147b22411 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b20b9f88-20a0-4256-9aea-a045da35fa19 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0ff342d-30b7-47c6-8134-fabe338d18aa phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84b28ec4-a9de-439e-b0a2-3fa4bd07bb4c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31e748fd-a180-49bd-9c6a-9e324e6db8a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b392d967-e95c-4dd9-9bff-d9c5a2b4487b phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fca14cf-a170-4921-be56-d7d7ad3b5c49 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e167aad1-3c05-4b93-9201-4f0f9278355d phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:579723ca-3601-493f-afff-ecb3c28fe90e phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65153a49-6984-4b6e-bfc1-0e4b5285a250 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2de57e6d-8171-4299-9ab5-a9e3f9fb766c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb522883-748e-499c-9cd6-648d89d79886 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36244b12-b153-4df7-ba79-05d8228b5550 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6010d92-db9f-45c4-a102-17cfd9357a14 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39d50117-04d2-4ebd-b610-fbac35f688e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:925321c9-52f6-415f-a93b-41b53626d879 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1afbeb8-0e3b-400a-8f6d-8541c4ee4e29 phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93a9a312-4d47-442a-8f40-5e9aa68c2a8c phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed50f4a6-4e65-4022-aee6-456306fccbbe phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b2f62370-4c56-40df-b2f2-693b127345d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6e46f6a-41e1-444f-b70e-b2744fe73ca0 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:84876364-e00b-42e5-88b1-5fa5eecb63f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:031fd943-d43c-4a52-b65d-e524507e1a6f phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:71817aee-83b1-4261-83e9-472a59bdf4ef phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c0f4992-f01a-4bb5-a748-668f2c8306c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c07ef86e-5098-4385-9ff4-ac88481b9bde phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:af1eda63-7fe2-4231-8667-337195601104 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5874cc06-8044-4ded-91bd-27625e684308 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de32ca41-22fc-4ade-bb17-400658b79d76 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8b5ef73c-7940-4067-aa1f-19486e7dec45 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec3124f4-0460-400b-9a9c-be061f3302d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a37684e-9479-4c7e-8a53-a363e61b3cbb phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec1394de-dd48-46c5-b260-258cf898addb phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:620a8b3e-d2a3-4896-bca0-11e2eef9f61f phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f3413e4f-3d54-4545-9b1b-5fb3eba50662 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a12279eb-b252-4a06-968e-1386b1cfd287 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:842fad31-9c65-4f99-bada-453229116390 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3ce1cee-8957-4abf-9fe7-d62eff70db0a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9363941c-995a-42cd-a0fb-7c2d9a74bf85 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0af9b317-1be8-45ae-8859-8c296a49edcd phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd4199e2-3349-4b4d-9344-5369828c9071 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e8542a9-d63c-4228-ae0e-47970a779243 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6dfa223e-fe00-4245-9077-d6a5477cbb4b phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:110a32f5-a937-4558-84df-265836e64680 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fb8c3c8-b592-4ace-9a30-805a5dae41a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd245c56-d9ac-4f61-9d13-df9118a34f0c phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76021614-eebf-4e62-ac45-66a26b23ee84 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ece9fac8-e61e-42d4-ade8-7c3600f0e9ae phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb1e5d78-7927-4da6-b8f2-54d6ef05ac4e phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:160ff98d-7890-4ac4-95c4-9e1addc4e9d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b48200f4-7ec8-4b17-9e5d-7121c35b20db phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51dbd4a2-a7ba-4404-ab06-583310caa2fd phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60f972e5-a3bb-441d-b1e1-5aafc36583f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b52ac0a0-ce7e-4ca9-8e69-34dd4686f781 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7deccdf-8170-4e38-a561-05c9fe24aeb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bd8f56f8-47cf-4e9f-8c73-c24de2219973 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d9d4626-2dcb-4f3e-9dd0-13ebcfad21e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9f7343d-7b28-4d72-bebe-e029361ec54e phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bad869b3-e887-46f6-9cea-3d94079673e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4b6a8a3-f2f6-426f-8a25-4895c0c2ef0a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65897a7d-a3e6-443a-a13c-e6a40f886574 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be530a8e-634e-4650-8ead-3796bde36a8e phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db88a2eb-327f-470c-be2e-fcd2c8b36b56 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e1d070d-ca70-4c6e-8b35-9a5d5f48f9aa phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e730069-f9c3-42df-a565-e3c85009aa0a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:865e0010-5179-473e-b7ec-6a0b7d12c737 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7acf75f-fd5c-4c6a-9367-b2346f54daeb phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c803d96-c177-406f-b794-c79443ae4e7a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:688125a6-e915-4553-9962-4edc04bf977b phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:037fb3b7-e865-475e-99bd-af13c2dbcc7a phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42f5bd83-c0de-47b5-8e9b-5ace3a595baf phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f9d672e-cda2-4d73-a405-ed992aa0afc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d474e2b-273e-4d11-aedc-9caeb9a604ee phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a68783d3-9a24-42c3-8fe0-b385eea7fd51 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bbb2904-482c-4779-a026-abff18792fcc phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8d3811a-476c-4db7-891e-687719989ca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc9158b2-e63f-41f2-a7a5-5401429c26e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:257a7366-aa4f-44a1-b325-fe97b23076ee phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c77982e-b8bc-42d1-ac38-0c8f692bf123 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a3a976e-1d1a-452b-ba18-8d904b04f7f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35f31039-bb1c-431e-b9a8-22e6b6a3173d phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3eccb59b-140c-4ebc-aded-1d4283b44c9f phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1f70e99-a0ca-4686-a3bc-74ebabc7bc02 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ddc1d66-764d-4b46-9d91-7b2c4c3e1090 phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b7a75c20-ac2b-4105-8eb4-85828968fc5f phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2efcc140-1874-498f-bf24-179b2109ae3b phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0648bfce-7567-4456-a4ab-ad303b1499a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5dac2796-3598-4c6c-b948-1ba6064ad926 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:18b5efd0-06e7-4eab-9f47-b0e245826934 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:26bfd130-3a76-4f99-ae80-20fc49d08b9c phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7289ca4d-3353-42ac-828c-86bc1d5e5a03 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41568808-6b64-439c-835f-17d54dc374d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a8bb4f34-3f6e-484f-8aa7-37bdbc154004 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:81cd6087-db42-4571-a084-fb6d55211247 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e7b4c51-2759-4b9b-bb2d-51942e388ad7 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:564cc506-f92c-4ef6-9e0b-8506129f1fd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e7a5b07-f20d-49fb-8e0a-03715b89d4be phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8003998-cb3e-4a1e-a67e-e2089f919561 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0245d244-d472-43ea-a60d-d78c5d7fb7af phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab45299d-2dd6-40b8-ad5e-bf40def9624d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b86eea8-83b3-49a3-91f7-75c952afea48 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9dd0e1fb-ab38-49e0-a477-32d5204f4647 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a443cb6-497e-47e0-a032-31a53b4f5a24 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f03f736-b397-461e-9478-5b5304d9ea68 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:852d7cd7-bedf-45ca-baf2-88dfe525ea66 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d987698a-0463-4155-acb2-972f9eacbd18 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fa8ef01-1de1-4af9-85f9-6e1b8415b2ee phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b3e0900-fc07-4e27-9213-5b5680d89e67 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d27722c7-1686-4f0f-882a-0cc8c452abd9 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6fabe141-191c-4968-9235-19f1f8fe4fdd phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:136f01cc-7577-4cdc-8294-7ba08bca3b88 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:674103cd-627c-4766-b176-66e3a727d78a phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b52e44e6-aa9d-4a46-8ed2-b2b11e84cea8 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfc638ba-9a96-4b6a-9e6c-2a53de6281da phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39d97862-a321-421d-badb-a9dae8b5b355 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:41091325-7015-4b49-b3c1-b2fd8d2089e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0341343f-df9a-4777-9045-ab92e7ca3a1a phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea1b05b2-b8c2-467a-97fe-f1dcc922a609 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fc8b8a9-be7f-4c0d-b5fe-b6f83aa6c5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26510bda-ad6d-442c-b23b-ff8610dc3cfd phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d031829-7b87-4286-82e9-647cd705b55a phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d34f556-5889-476f-9c2c-d86dbbe8a3cd phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26b67e4d-9a99-4992-aa23-073be8b5fbe5 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a5d2f3a-304b-46bb-913c-3f1018e24602 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a51f29d-1ee3-4247-acc6-28e4248fc9ab phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b2480635-56f4-444b-90d3-318d4a13797c phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:671d3629-08d2-4c24-b627-a13c838aaffc phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afe88d60-567a-4e94-bae3-4b3bd41a8a1d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98e27c6d-c56e-4581-96ee-4536450ae3ee phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9709cf6-7e98-4d4b-ab38-303ca96e7010 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b51150e5-1eea-4ed5-afbb-16d21a10f037 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5cce3fbb-149d-4b73-b926-5eb1d950d99d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c0ecbcd-ac80-46c1-b08e-6ffe5d25ea48 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2289f6c-04ac-4716-a764-f92d30c85141 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d80540bd-1164-4148-b650-76557d05109b phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6a41e72-7d15-464f-beca-452036f94a17 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:915789b6-e4e1-4161-829f-12b19d8f6c92 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b56b89d4-1b01-4346-99c8-8e35213a6436 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7cb82aa5-8dab-4585-86ae-1695f435eb95 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f457b261-c2b9-4307-a8f3-aa9c7f9718d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bffb3218-75be-4241-bfc2-cd991126d623 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c188e3e1-d338-40eb-8491-2e33b7e8a0d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43b97d98-3413-43d6-aaa3-048067c608f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2b4ebf2-84c3-446c-98e0-dbcad51dff27 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c39f0fa4-f186-46b4-9f4e-2b72f588f9a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03ec36cf-290f-43bd-a768-42b5c78dd6cb phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e669a7f-5ed9-4098-81b8-7081df7d7017 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4fade21-a6ac-44df-ae1d-2fd3c0933921 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbe678e2-0b99-40b0-952d-a88fca36ea83 phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bcdc3d7a-b43c-4d00-b70e-67752e63e43d phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:e7eae37f-4d89-4b2f-af8e-8c9c0cb76018 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ea23c63f-9d7d-4f6d-b7c5-cb7441599e73 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8114f154-14b9-4c00-95fa-0c18d2660cb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:850c46fa-7252-493d-a8e1-b2f545232292 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:816cdc09-68cf-4a06-9e82-177ddfaa1a4f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4535a66a-2529-411f-b46e-12dc725c6b8f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:02012ee2-e166-4b20-a43a-0c9b74430550 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a3f51ba2-ae3f-483d-a23f-823db3e1cd8d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a59f1df1-47a5-458d-a160-d99f644ba231 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f369f33d-c268-49ac-98a1-85b9eb7fb872 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c83e81b-1cab-4c84-9295-8109e44a3026 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a0776a2-bd92-4b37-9f45-78c159165447 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:db7ebd14-0819-4a5e-9d7b-a91644908e38 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eea70897-efda-4e13-8d08-f71ecb4e908c phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:15687df8-a7c0-432d-92e9-b6c6fd77784a phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:358974d8-a354-4f3a-b0d1-a1b40992a998 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e11835b-ed24-4be0-b00c-d778b7454bb8 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a38db071-80a3-47ee-b897-5f47e073e5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:533da785-5d75-4469-a91e-465768bc268e phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1847ddab-9565-48c5-b34f-0135abe3b870 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:821ffd86-4cb6-468b-8652-582ee27eac19 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58939bf4-6cbf-44b7-8c09-d0aaf25a878b phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d10232f-7978-4228-bbc6-9d40b6adb366 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85dd2abd-97a8-4ad8-8bc1-33187cd55898 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bfdd2fb-c964-4db7-964f-7491568dead6 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13d7a0cc-4e1d-4933-b6e7-087843cb01eb phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9155ef98-3840-4239-8dea-ac7764fc188b phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80e02484-31ff-46bc-a4db-ec23f5f589c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:789c0acd-3738-4687-94f0-96e1e3f24feb phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f77b6395-c86a-4263-aa06-c4e24b99b26d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1ee048a-17aa-4a02-bd10-af10ba155247 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c7c1135-3501-4eb8-ba73-53221c1fd134 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66b2f00e-d8fb-45e9-9ee1-fc9bf217751e phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d7dd4a9-612a-4374-9370-a0e8e9e0e24d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb4fdc9d-6b6d-4228-923a-868d184d2b94 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e158c2a-15a0-47c7-a3af-0460c774c73f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24bba781-cefd-47d6-a917-5d642e9ee367 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f519feb6-cba7-4eb4-9e53-0d31dbd01984 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca7d11ac-c21f-419a-9f3e-cdc2ff041cf9 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8504a36f-370e-4484-9d0a-1670c12b1b5a phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37c15ce6-feee-47a1-aa92-3f49a23b18ef phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:394c6c61-83b6-41de-873f-b9c402b5d189 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74786f92-3213-4d56-a2a4-c51c48a3b435 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c5aca00-f93c-4df6-8713-8f64323fb320 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fec20098-d3e7-491f-b54c-c53cdda83848 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a3d6823-1add-4627-b83e-110905014019 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c6ed5d4-e09a-4f94-9703-2b3bab47c5a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:68784f23-79d7-40b2-a37a-18698dccfb3e phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c552c82-eb66-4197-9b1e-d041c8d802fc phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c45eb90-a86f-4f3d-b568-af30bc672a96 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d121966-71e4-4bbd-b807-bd08545b53fc phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3ae2340-3122-45a3-9646-6e48c93f646d phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e54e7991-8841-4fb2-a3de-c41e031aadd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bf2f798-28fd-4c66-b721-2c8a7580cb6b phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1a9333d-abfe-44a7-8655-21007b7f1d1f phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a7c28ec-e193-4239-ac54-e749eabb2f20 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7826a689-218b-4d20-9185-9ce4b351ee65 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ef01452-9c8c-47e4-a79d-a1b33b8dffbf phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fb5429e-f371-439c-893a-25959ec8baa7 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e2b943c-572a-4925-a561-7f45d4c786c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:663b33bd-b0a5-4caa-9b71-7c1ace8a96aa phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efb6974d-57a6-4e22-a0cf-d730de15a2db phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87b59501-1281-4057-a1f4-f7fa469be638 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39c5ec37-0dee-4b4b-94b8-770116af6a37 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb97b1ae-73d7-4e19-8334-136f42616081 phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:740fa312-bc0b-409d-a088-433bc9d1e13f phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:64b79dda-b2b9-41ea-a626-72f15c023622 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:463aebae-9f89-482b-a5d3-129fee13d0c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3725592e-97f3-472f-9070-851361ec9cf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:19221a90-e9e8-4028-915e-327e23906e37 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c05ff936-1f9f-4af3-a18c-f1c67f234e5a phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0632fa03-12cf-4eea-b87b-ead31f8c8ff5 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3374a283-061c-4fef-8ecf-f4edd7c4db26 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:acfaf3b6-3b92-40c7-aae8-1128f8381668 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cddb1093-c654-4d2c-84b6-ccbf33977d00 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fe298068-f2f6-4454-a620-f9ae3e92f55e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2b6a41c5-c9d5-422c-97f0-fa162533ba05 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41c77fa2-3467-495f-86ab-f483c0411767 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:70148b2f-e2eb-4cc9-9155-071c008068db phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e4a5864-f10c-4f55-bf50-7e7dc611ad38 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:124e434f-5e6d-44ff-b329-8fbc51451ff6 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c63424d-7a2c-4d39-a4b5-fb25686ad37e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0522d71d-6e3f-4238-96bd-f03db6c0767b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7c568ac-5e6d-4014-8468-70fac2ddb283 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1c2a336d-9032-498f-b245-1cab44954921 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c277c8e-0076-447f-8e3b-6e083c37127e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11bfb62c-866a-445c-98b2-24556c63a761 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb3fff2e-fe13-48e1-bcef-7b9d5bbf298c phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6b764a50-724d-4ae4-b152-cdfaccaeb041 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6583017-5596-4791-9a42-330ef6a06f98 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:170591e7-4a96-4a8e-8cc7-8375a1ee3317 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:100cc502-ad5f-4a5a-a3a4-fe1466dd6328 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9714ad9a-3b31-4796-8954-df53f80c7df8 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3562d5f-f14d-4b59-9386-44f88963d3e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c72122d-af4c-4da8-ba2c-e99bb7f4530e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14ba73d9-2ed9-4066-8b7b-231cd1115ace phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b3a3c08-e8ac-42e2-87ab-0c042b8ac2a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c6489db3-6b7a-4f37-9301-00c4eed16813 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42210577-8916-4ab3-870e-78dcb55efe58 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:091c23d0-2580-4a30-a687-3413afd9be7e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf012568-f138-48dd-8677-89419ae698c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff82e17b-1d25-4ff6-8788-b4fbfd2e69e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4893bf07-166a-47d2-be59-32daac4553bf phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:948aef2e-6576-4cd6-b0c0-f79dee90946b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d04e501-d394-4d22-b843-25d6f1d84ede phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff6e9225-7a9f-4252-8e50-e4cc31703754 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78334230-0528-4b9d-b347-cac1475cd43e phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eba0f55a-b3b9-4943-9d33-5acda52e5aab phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c21b713-5814-49bd-9712-02ddb45ec926 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76e55291-3d41-4291-b9c2-dffc2ce4a29d phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4a96c4d-2fff-4d12-b790-8719fbc75818 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96f7506d-ec91-4a19-abd1-3ccc8ace225d phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecd511ef-9d12-4c37-8242-d4c5648d462b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8642485c-28fb-4b40-82e8-f8f3fc925430 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bf85935-8f12-42b6-b35a-6de12bf53ef8 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8105ffc2-1bea-41c8-8886-89eef0e2f470 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6982713a-2ba9-4f9d-b7a2-7bbf22bda516 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7df8a81a-25b3-4dc0-b841-e2bfdc303248 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1130b2aa-ea83-4718-8607-42c293649100 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a188f047-cd77-408f-9f7a-5f20f9a9e3e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:932ee32f-d849-4e3b-ae63-5c5a9e673cb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d911cc99-9db9-400d-8819-1655c1cf1e43 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fea13271-4221-4804-97bb-cc8625ee76a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98598133-c4c5-4424-9fbf-99b661a99639 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af9134eb-743e-4e6e-99a3-3e4dcdce332b phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e135d68c-0c21-4262-8242-47856a7d4419 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efa19da6-7a74-45de-b5cd-c561941189e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b274448a-ffa1-4473-bb5a-d1637c8cdc52 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec653f7a-a486-4a52-82af-fb9b40ab8bbe phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6d4352d-b0aa-4c46-901e-7bad7235b721 phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae3cf75a-ced3-40b9-bb7f-87104980355f phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4e289fcc-e095-4d1c-a513-822c8b3694c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1f00046a-b23d-4c19-8238-3b29c227c87c phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:90d5ddaf-c280-44f3-81c2-13308d59d2b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7ca1682-0dce-4978-8d91-3bac667b6aee phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e0e5a62-5fc9-42a4-93c1-ea52d0e1381f phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9c2ea95a-89d6-4189-824e-5fb47781de0b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7da1d5a5-c19a-4ffd-843e-8926abebcbb4 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:22145084-24e9-4d62-b7b9-1c2b5a71c24a phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:430cbf09-9754-4aac-834f-da36dac99e94 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be8f58f9-8bff-4da0-972e-69f271194e42 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed4e6d55-dc7b-4ff5-bf69-d60e18820684 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03ccc861-7e77-4261-bf3c-6d9da19c282c phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c14cba66-2226-42d6-9b01-70d3e307daf8 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e13aa6e8-ba55-4eb8-b62d-b14b0aa8e8f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69b3f6de-b957-4f8e-8bf2-1fb2ad7b79c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a488ef3e-e459-4a32-ac45-f5e2b19d2b3b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:62eefb7f-3220-45a1-9c28-f5a054c61ec5 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86c83ad9-80f6-4c43-8641-35fdf45defd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06ad0624-f818-4fbf-8be5-a82698e3fc68 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf893f03-9815-44dc-87d7-79ebb2bc1c76 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f98a02db-11d7-41bf-951c-bba00c850ed9 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0de404ac-c1c4-47f1-b768-3d903ecf997b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbae515f-19fe-441f-801f-6df41855cb61 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18bdd6d5-7efc-4071-b845-bbf2309f2264 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa052cee-73ed-4862-a47b-bea6c943c971 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8446f4b-e5a7-48ed-a79e-812b2f12db1b phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec002dea-3772-4ee9-8b0d-925925996aa6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9830af3-3292-4e6d-a20a-46b6791c2209 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b91f026c-ff9b-4e16-9ae6-de5b9ec24877 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2db2b722-140b-4545-a681-16fca733abe4 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:743102c9-3ee3-4956-93db-72203cb2ef86 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b590fc14-9375-4883-9cc2-f10c131a8121 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1fb8609-28a9-4d76-9ed3-3868cf5f9af6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:248ba873-4e9d-4454-ae4a-ab60deb43f66 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4eda2b10-a604-4a79-bfe6-4c8fcd4bba46 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d53bf1e-8fa0-4c3b-980f-947fee4fd971 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2beb26bd-1150-44f4-a3b5-a7758529d21e phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89bd149c-1543-4745-9dab-72040c501267 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7411bc78-6fbd-4792-8bfc-b540f3fd0894 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cd0f5a0-6731-460a-87dc-dab0c7c0d47e phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e8c3fb5-1e69-42a3-ae94-5996eec23555 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:44109cbc-ceb9-4168-94ed-e4bd3acbb525 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:996923e8-1277-42aa-b0a5-cf69f2a532c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5729b29-4de7-4bef-9edc-a14b6baa4d31 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:698c7b1d-6030-4a79-a47f-182cefc2ecb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2679c42d-55d6-4905-a31c-3505815298a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c87585b-46a4-40dc-90a3-f970980e7ced phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b35eea81-897f-4505-bced-c79d8b27a7aa phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff4c4fc2-2940-4431-a97c-5f78630c4ea3 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7a6a0b6-af6a-4427-8745-9e0b33a6535e phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bacd79e-633d-4d40-adce-8482d2bdf375 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f5c1612-f6e5-4a72-9400-a73076818f4f phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2102efb1-ff4a-4e93-817b-cacd63c8b4b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1e49b6f-5e90-4635-93ab-4b2e181a853a phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c006b2ca-b47b-48f9-a6e0-24090c773cbf phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf9f45ea-70fa-4f29-b571-d5f2ef4808c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:c43324fc-c44f-4d9e-8614-1fc3e4ab7dc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9c9148ef-7045-454e-a2e9-272075eaa104 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7646a84c-ebc8-4230-a6d5-24cd5996b8dd phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a747dc42-2a7a-4e69-862a-752fa3db5d61 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9c60d7ef-1d40-41ff-a5e9-3d72f8440c0d phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e0dcb12a-3691-43f7-a3ab-8186980b05e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:754bf5b4-842d-40db-a724-c1cfa92a694e phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5774a6e-65a7-40a3-8289-b7675cac717f phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e43c80eb-716f-486b-971b-d38de6aa2831 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fe61316-23f2-4c14-b55f-b029b3776772 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cc83bc2-a93b-4ad3-ba6b-268809ce3fa1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97211e6d-a48f-4368-bb0a-e696dda67062 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:603adffb-100d-4464-b301-b3cdfd364ea1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d5c3e81-7955-4d88-b946-00d21ace0d2c phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83587029-6961-4e40-be18-d6411d6f65b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c60e200e-f29f-4240-b53f-563cc2b2c6a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb83caee-c5ad-42aa-8f01-247a5b3ed5de phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f08317b-03e2-4313-b629-7acc056f5e52 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dbb34fb2-b58e-4081-ada1-de453325381c phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f54a8b5-4106-4a4a-bab2-610fa205ea98 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c986978d-8ba1-4f81-8f9f-aa50c5bceefd phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fa6a2ba-bcb8-4a39-b98c-600ba6b99989 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc925f95-2af5-4ca9-8429-e0fc45efa945 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c76685a-1e3b-494f-83a8-2ace65b6d085 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1260a11d-00f9-4d20-abe7-0378b913e8ca phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f9e1275-8f35-4849-975b-ba50eada628f phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4ee4f81-07e9-45ed-8407-4cb1e3e9adf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:652669c1-31f5-4a61-80a2-6744cfc245a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba4b3b0f-45ef-45c8-a350-5cb3a95d8a26 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40df8de8-beb3-4bf6-8510-8a2d5d034fc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:334e9d52-9eeb-4f0b-847a-04c5c527df55 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:167431e7-c304-4a44-bc34-b8676a61ac6d phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d16e843-cb07-4977-bedb-064944ce57f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6248c6e2-649f-4662-8f3b-88dbff3eda96 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f639e01-c9be-4e2e-a855-b2e2ac92363a phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c42f177c-87ea-4984-a09a-bb6ff8dd6f85 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e1c70f6-f8fc-4f60-9cd3-b5ac4be6fe54 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd116ebb-48ed-427b-9f3f-d215aaf32596 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d2a6fb1-a00f-4d60-b819-f2777c9799a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:27babec2-c49d-4f2f-a158-5ef2fd2c87d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3efc682-3870-4a99-a07a-3f2db04f314c phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bf0f6b3-248c-48ef-947c-ee33c4aef9d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1c015de-f428-472d-82da-82797b92d113 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f5871b9-97d5-4274-a76a-26fdac743646 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3edff546-5230-4e7c-9760-23a43318ae81 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:984dd483-20fd-4d84-9c0f-9a3b162634a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3984d64-981e-42fd-86c8-1906fdb7e589 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e8dd5c6c-4677-456b-b5df-26472667243b phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00de9c2e-0eb4-4d77-9099-d0730f020b93 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9b443c0-3bf9-4d1b-92fd-d91f06b3f7bf phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e903de89-493f-4818-a681-edcd174a8edf phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58fd776e-48f4-4f58-bfa4-4ab72ace213b phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de5e76de-f5b5-4ab0-976a-603f0be871a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e4206f6-7dc8-44a2-8cee-a6477f2ddf72 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8339adfb-debf-49f4-81ab-6940ff70f555 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0201b2c-3971-4272-ad37-03b7560377b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f052461b-764f-4318-b636-a739afb3e735 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:04ae3e01-a134-4248-8ced-31619add1475 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb367fad-a8c4-4e81-a8bd-a40096423955 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f73b418-ce8c-468c-a636-c214f70f0603 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b65a28d-8902-4a27-ac5a-a17eebe8f650 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:458543ca-f703-45c6-9b16-1e76c28e123e phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bd204769-2892-4a10-a93e-4db40db05183 phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c89fd0a1-e349-4297-aec1-819927e359bd phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:9713747e-7d29-4cd4-b4b5-966653025c6c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4821628-a608-462c-97e9-cf5a60ddaca4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a629e79c-aef6-41f9-9545-1aaaea49df5f phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0a8b6803-d798-44d2-8d75-4fbd167959b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9e7596de-e2cf-4f70-99a1-787dabceeaf8 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:621844b5-5e89-4852-a892-07a0c9d16f0a phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ddc1adbd-287d-47ae-a55f-00f1676ea978 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8efa7637-6461-4ea0-9f95-c076cee867d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77d54450-4141-454b-828c-89d088558441 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:665ee898-d2c2-4955-910a-416c6e1c24ba phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a1f4ca3-8f91-449c-865f-9df7c2fac9f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d5da265-fbb6-4b0a-9c32-73e03a387649 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7e6f3cbd-c786-4ab6-8579-a5369a4b7f6d phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8135946-3686-42db-b9be-5a58c8ef5195 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:410221a8-0a17-4878-88a0-4ac3fa9f127a phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d303230-7e3a-4c21-bbf3-21ad345c4806 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c521597f-cad4-4cf7-971d-64e1f5a7c273 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b56968b9-208a-42a0-aa3d-02889211ac1b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3db66f4d-f12f-4488-b6f2-7ca54a103284 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18ace06f-7646-4175-abf4-646db91bca96 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:713ca9cf-1007-4cee-945d-aa8e61195c5c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fc14538-9cd9-4bc4-b550-cc41bc56ff67 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b3bed4e-fdb2-43cf-8a17-08fdb53f03c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cd31c2e-9aa5-4579-b7f8-069da7139332 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b619a76-5322-4bc7-84d5-49105eb71299 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c5dc42f-37a2-422b-99ff-b923a76dac4a phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f933b9f1-ba0e-4317-ac04-23902cd6e1b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ceccc84-a570-401c-b61a-af6cdece1ee7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38e9ed5e-7b77-44f3-b54e-77734e68152c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc367df2-1427-42f5-a5af-f32e75945923 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:baa9f99a-3809-4c96-8706-a211d0d03dc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abd999b5-6040-4896-9f41-c257c992e236 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff5a2fdf-d39e-46ec-9510-f7025fc79033 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:573a5e97-d6b6-482a-b7e9-3c01f59368b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09a5ec6d-f28d-4cad-9f8f-59b48a9a4447 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3d87c55-4d49-4125-aff6-1e20687884f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c5b7506-f136-4d61-8163-d71db711622b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb3ff269-c089-4469-a0cc-32014aa817c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b297e2d-398b-4c28-b51a-b67202deca29 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a43f5cb6-0458-4cf6-a373-b7aeeeda49bf phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50dbb48d-1e7c-433c-a760-c82772faa054 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae2d77c7-7b44-4c8c-9937-f68a619a8190 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f52ef3f-a58b-4cce-81a0-cfbaa06ce7e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f945a0af-fddb-4ca9-bd31-1455ddf3733f phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84c30f04-7b61-4300-bb75-c50d6b8975f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d460559-71f6-46a4-a9e8-5c6d4cd0d05c phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cc8e5af-53b9-4b3b-a52a-9add012354e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6e09afa-7ee8-454f-9f5e-c39283a725a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3aaa677d-3a5e-4e88-9d4e-4384e08ad81b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a4a48be-d5c5-4cb9-bdde-57f70bd52184 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f1894e3-8888-429f-8914-3c69e1b6f462 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18f0d764-c8a1-466a-a6b8-95e7bdef8dc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:79f895fb-b5fb-49c2-bdd3-468b1e02a12e phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85f914cf-ee92-4570-a109-a90de5816857 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b77bb65d-5913-4e72-bfe1-11371ae10fbb phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c8f6ebd-9fff-4557-8ab1-57a188a411ec phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66acf937-baf6-422d-9162-7612fd89d45d phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f36e848a-f156-4f39-996e-00e9870d001b phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:054e7b96-4723-4da4-99cd-a9ccc1b191db phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f4a1cc6-ba36-4b96-8290-6aba9027c938 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd86bdea-3361-4380-88ab-9af284d8df4d phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43a04d94-69d0-4378-8898-dcf0344ae6b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bdc8f8d3-5044-4bc7-a376-7ace00098e43 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:755b04e8-10d8-4f05-b4fb-0eb7f3f56ff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:25027fc4-c865-486f-ba47-5205a414ba42 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fac73079-b73b-49aa-8259-d1baffdaa0ab phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c690980d-21ea-4de5-b214-816a7705db60 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a189ef85-10e1-4774-bb97-2679beb82a87 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a772c4d2-d4e1-464b-971b-83b4c39c7412 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34d1bcae-3cd6-454c-8ba4-8ab49263001b phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ce85f495-713c-43dc-a5d2-449e826a00a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc67f018-36df-4e42-9f85-f159327ca0b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec0c1b9c-3207-4e1e-a890-634ad9ccaef2 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:11ea3046-9b4c-4b28-901b-be1f02ac5e48 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b0c796f-57b5-4867-a13e-1a2025f90c84 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0dc971dd-4a48-45cb-890e-76da2f76d08f phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4bae2d71-34ab-484a-be53-8f69af9d41fa phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:440a1836-8d3b-4848-99cb-b2b37cee8ff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2197dba9-9abc-4806-ad60-c0ea11bc26c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f1943ee-add3-4310-9dd9-6d4c72161b78 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:82ddcfb8-20a5-487e-a89f-82f4e3c1f3cf phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:027af235-b027-49b2-a433-4bc5ee82b29f phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:01fcd7f2-8411-4986-a237-f5360a417df8 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ac551df1-b1f7-4847-83a0-7363de198012 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eda4c16c-7daf-400b-a33a-e7a846686877 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:644f2560-a767-493d-a4ad-4cd9cbd69106 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb53e266-657b-4d87-895d-e2898557f418 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83d0284f-eb1b-4acd-a4f2-dc0bd7955cab phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:faf6b7d8-6258-434f-8bd1-a4aba244938c phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:206c83e1-78a7-4b54-a4a3-6f2106ffd8f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cbbdb78-b9dd-4272-886e-83967dcfea12 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64983c62-28d8-4a95-bba2-5d15091965e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7e29424-f687-45ba-8682-df5b79375001 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57e24176-2550-46ad-a98b-28c41f55bb8a phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42cdda10-5e9b-4f5d-b673-5b8a5e8e66e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6253f4a5-e744-458a-a74e-17093eea6856 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c042dc61-7c3a-43c3-9394-390658ad85ed phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bf2302f-9dab-4262-bcc2-51f62da23a6f phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12f46635-63c2-45be-9301-fb2eea49044c phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87036a88-1bdf-4291-bb0e-8649316e3b40 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:450e4eb0-a831-44cd-9ffb-2107e67492e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a1fd200-7e6e-44e6-b641-b82f29672abe phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:144da07f-5cc4-4484-9574-28ae5b221d5d phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16b9d59f-92da-466c-abb7-bffc9b8a24bf phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22a92398-79a9-4ae2-a43c-fc028f0b219a phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5632b115-5de6-457b-8722-2909a252eb42 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d23d8d88-0fe3-4a98-bca6-fb0cd3009fe4 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84b21e6e-551c-4c89-ba31-19d89dc622f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:293d48b2-cf3e-4739-a845-d7dcb2183948 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02823c4a-4cd9-49cd-9b72-08d8011948a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81ff99e5-169d-4a89-9857-e3a75b2d1358 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac8bb58b-4529-4d13-98fd-1125aacf9209 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:209a395c-8266-411e-9cbd-32f61e9f83a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d44ee73-169f-42d6-90e1-a146e64a6e5d phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd65915e-1dd0-4760-84a3-d19b1f7373e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f3cfc879-59bc-4366-8bd1-2aacb11f460d phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2814a08f-fbde-49e4-86b9-c8bad04ded23 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d2a8de8-085c-40f5-91b4-66bbf4457220 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:250c0f20-53c1-4a22-9625-215538ca3516 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:723725de-44ee-4f1b-a932-ee52bb5b8bc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4489e996-eb3e-455b-82f8-3a20a7dcfdeb phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a020d67d-03e1-4b3f-baf2-bdfda7e12833 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:429579f8-0810-4a95-bdd5-cd3afbbc776c phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:045974fa-d602-4b73-8db8-ff9db5514c03 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73736b31-4f2f-4203-b1b1-8a68d1b15c5b phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f38a4843-a235-49fe-87f4-f7daf8c1bcf4 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:119330bf-3530-4ab5-a22b-7523d1fba806 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbe2d806-3ab9-443f-b942-3316de1edf49 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43d46f10-9fdf-4c44-8130-234f09d3ad80 phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:30bf9dc1-608a-4785-9ff9-1a7ea2239514 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:daad0a33-f5f4-4e38-941f-af8f85a9aae4 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c24c4441-b3fd-4660-90fd-bd05bb5dc3d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:87ceedd4-a284-4f84-94c3-733b06f77fb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:810a034d-851f-46c4-9a8b-a36ac0a16782 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12659c3c-23ba-4023-9cae-9725af14eba3 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0022e0c-98fc-48d8-926e-01dba2abb9ed phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c06ecab-789e-43e5-adeb-a63b8dd3db37 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b8786f77-bcb4-446e-b9b4-bcba0827465f phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4d877193-5633-4ba1-8883-266fb1dff1b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:343065c2-5669-481c-87ca-0be5c40d7b27 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ac7ac0c-fa6f-42ae-88b6-763197530ada phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7ae920c9-4f05-4a52-9631-570d33f0e32d phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:26c5d05b-5174-45b6-9e91-4234ac502b0f phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:91777132-1687-40f6-b0f1-1fe6db5666b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6f3dce2e-3049-4e64-9086-38acfb368d29 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:802f14a0-0181-4b62-b16a-39033f17f170 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7e9afa4d-a8c6-4519-963a-e1744a6b413e phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:533f8efb-cbaf-4c7b-91bc-f32b78383cc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b56eb11d-76c4-4123-8beb-672c3cbe1a80 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b845d58e-bb07-4ee7-a3b9-5bc15cb68633 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fce0e16b-9f77-44dd-b427-e0249e4e1bf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:619ddcd2-67a1-4eb3-bc99-84fcb03d2e05 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ccae1ec0-246b-4508-b0ad-f4d9dc4e26c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f792949-a11c-41ba-8d0d-79cde67471ee phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47661c9b-552f-4225-8323-55c2bfff6580 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd647271-187f-4e05-98fd-764fe8cf00f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d5479ca-eb49-432c-b26c-4b812bcecd23 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a992662-cec7-41ab-a584-7cff3f8dabff phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc42e3fe-c292-4722-9e9c-c103065b972e phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98c0f45b-987a-451f-b870-da8fff749009 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30d348c9-8f32-4c41-8ec6-f4372173407c phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36f7129e-5669-46da-958a-bb572f1dcbbe phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:172535fd-24a1-46e9-9b00-39107d0753f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc36013e-0e6e-45f4-989a-8ef61ff96726 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f47353c-cb2b-471b-bf75-652895635465 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f2da82e-717c-4971-be18-729a72742f87 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a054a217-a9be-4ef9-a01a-dd4d9b2fa553 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9b0a602-dc37-4796-b731-dbbc949a0404 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:986ebf10-4d93-45ef-a186-a0f7cdf8a417 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4a71f11-c634-4379-a8fa-d7cc0e197e6c phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:782b5fad-d6eb-45f7-a365-48d4f408742b phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e2d1901-93d4-41e5-a681-0f3ef42df481 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73090ea5-9374-4712-84b4-f1f7f4a425ae phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03ca8f5a-50c9-4dd5-abea-a1c53e35f44f phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82206563-a062-42cf-8065-e70fa4bffca0 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e9a5f51-7570-47e2-893c-54b6a04ab201 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3279ed51-bd6a-4e51-ba9c-e714ad88f317 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e97ba53-49c4-4dc9-b324-11ab8af6cfec phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c10d8c5f-0741-4a7f-9a43-1d4b173de8df phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43e58291-e6e7-422b-b5dc-74e1f3ea50f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2405bf74-1883-4173-8e5a-fee6e9aa17e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17049a79-15c2-4a93-b699-716daf1b655a phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d65f113-cc3b-498d-a47f-d89a1d526b7d phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:937442c8-7444-4c62-b8a0-b35300f1e494 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b88ed643-b21f-43fa-8bdc-ee464097f623 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a4f72ce-7c53-4aa9-876d-a81ba9645af2 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e3eac5d-d0fc-4ae7-8a3f-dff4bbc1900b phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bebf1a71-bffe-4d32-8ccc-23b607c92fc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37a1c234-ca80-4ac7-87be-a56277a84958 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce5d23f5-2356-4643-a56a-9a2c94525a94 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0dcf966b-4740-4036-8580-8f51c3a9e965 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70bebbdd-7834-4f66-939e-7abba3ea96ad phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4739460f-bcef-407e-8b34-4ed1e5ffe4d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:2e59ffab-5dbb-40de-9def-9824b61bd8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:763c7f43-cbf1-46b0-b1ba-9632f9979f6a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:becddf27-e521-4cb8-b890-6691987c6c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d449dd82-85cd-4852-abee-af8d2508c646 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e5750396-cc5f-4153-a8af-466007f80d5a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a29ddbe-a023-46cc-8714-8f2c3983665e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8d1b60d9-3b94-44e0-b172-671827391f15 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a080570-8f0f-4592-80cd-f128f5cfb549 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9ed5d1e-5813-4f3b-8931-24b4e8815593 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1b62b2d2-778b-4772-8188-23847d82cd6e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:deb1858a-fe18-48a0-9391-1465945a32f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:361b2b62-90b5-4167-848b-32d8ec705738 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a78f905f-1956-4605-bbcc-8c4a75158b9b phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8b40ce49-abf9-4dec-ab07-5e8f7ad25da0 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ede100a5-36cc-4563-a1c6-23beb78587d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:43997b2f-c50e-4250-afae-9d9ccc916a73 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f86d1f43-e543-41f4-a55b-81a4051eda19 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9752b51c-74f8-4abe-9018-09c2d9490d9e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f3dbbd7-2095-4070-ac71-0fb7b899e69a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9330c0ec-b735-4b50-a14a-7b8f677765b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:205f10e5-ec0a-4a0e-aae1-cb1ac16d9032 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:640f06f3-83b0-465f-b0eb-fcb27e1d2def phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2894fff2-f256-44fa-af6a-1872ab23fab9 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:87e104a0-bd75-4c17-8efc-ca9eddf546f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:800c22b0-4ab8-4520-afe3-79ca5d2c3bd0 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55882d18-6d1e-4587-a243-61f1500a1c92 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f099fe87-daae-4c85-b244-7d44790cd2df phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c7fa52c-e4a1-45e7-b182-d89c0950ba49 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05d10d51-83be-42df-8e82-7d58c501230c phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd8b31c0-4ebe-4e47-8fd1-e936a7b25a11 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7fa74a5-71d5-4ed7-9cd5-5a8a29ba3e5d phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:124fc4dc-63b6-4e40-b930-308befe2778e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffda9b0c-fe6c-4f6b-9e75-bf12cdaa1bdd phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fefcec43-a217-42bd-a435-39907191692b phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8686b46-7a36-48d5-bfc4-b51c2b95ea46 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abd7c58b-d737-42c0-8983-bb4340d89e0d phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efa98d81-70be-448c-ae62-19f577746515 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f64cd1b7-e96b-4dca-bb71-87119472fa3e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ff9f824-07a6-40ba-87f9-e0390cb0c321 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fea2d0e6-d1e5-4355-92c1-3a08999fec8c phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6098ea9e-092b-4053-a7ac-33549df05066 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1455cd2c-324b-45a7-8410-91fbae518b9a phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a3ba538-860c-4ce0-8f03-f8761f74117e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b002cb8c-5959-4a15-8f31-c1bbc0fd2b1f phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:481cb5e5-6cd2-41c3-93b6-d24267946f19 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14fd1851-d5ff-40b6-8fde-6d41b15bd739 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:56dd1d54-3626-4b27-b638-a83371c0f96c phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ea3f22e-8412-4c00-9224-13331e00d848 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0a9ed82-9a24-4d75-a2ab-1b2dcace3235 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8655ae1-1554-4262-bc09-9e4f90cfbe4f phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65b8bf8b-548f-420a-a2ac-6ed2c482da82 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36e398a7-28c1-4922-83a3-75be6d3215d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b52c771b-bec3-4bad-9c50-6349d45dc1f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a579a08-20af-4872-948a-b95fa9790a67 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46670dd2-5388-45e9-9bae-052090fe1f55 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be6461f9-edf8-44a7-ac91-35dfafffe0d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb80ee7b-da3d-4f75-b35c-7cda89ca8ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16174ef3-2f59-400f-934c-dcd329d533eb phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:115a66ed-3495-4b17-ada4-54c4f367c45b phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1978a25b-8cc6-4094-964a-fdaf15bfe71f phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:046df580-9ea0-4eff-9221-119692cb8fbf phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:489a177c-f142-4111-8a0f-25146003569e phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:540b0a7b-bb75-47aa-8120-390ebc1d7f72 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b890022-dbff-40aa-9ca6-690377d82366 phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f6a2d5b-29d7-4bf2-8d81-71285cca14df phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:f3599aeb-f49e-4cae-95fc-9c425eb79e13 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cfd3f338-b3b2-4067-9528-98dffc687d22 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ea3a040-9641-414b-8531-554c73d817b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6ee84f0b-9f16-4c1e-ad45-1af269d95019 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:beb121f4-7e36-48a8-bf30-4728147d2d4c phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2153d1ed-4ae0-4ae6-8ffb-98d9f2e0c2a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:af3a64f1-3444-41b9-bda5-fa491868c985 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:369c3179-260b-4542-a3e2-883cdd6579ad phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:811acc9d-7b08-4c97-b7af-6c9e94e22786 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ca9d607-2aa0-44db-ad5a-043dcdc89ee5 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab337567-d4e8-4b00-9b85-0c606a87cfbc phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c943471-b00e-415e-b4f3-d4e4795f1de3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a69960d2-2d99-45e1-bcc2-09886e8e7914 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:20e4bf96-2ab7-4ebc-8865-4b448b638f06 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e108e82-3258-4dde-887c-64626ace9676 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:439aa518-7fda-43d5-bbe4-ece499e1bac7 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdcbdccc-010a-46a0-a071-6b70ce9519c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c328da2-7957-4c73-a514-5e075a76dfb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:091db4b4-094d-47ce-be70-90c4567bfcc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d78ed4a-9c67-4350-a16d-5b1cd71ab10e phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a39f76c-21cd-4e9c-808c-7b144ad894bc phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecc2804a-0287-4edc-841a-eea3f68141fc phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a2c158b-c31d-4591-b825-0e9acc17070d phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31740bea-a5db-453a-9ea8-143c43b2a4fe phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da386da3-911b-4727-88fc-bc1c26df1d0e phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4db13df9-3fb2-4803-90ca-73c4e519c6b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ff76f1c-3e50-4cd2-87a9-427e7cd18f77 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1d6deda-33bd-4cef-8c1e-6d2ba06c3834 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d7217d0-ecdc-4924-b831-02aa1fcb0356 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26721f58-c58f-4563-9f1b-3916284ffca0 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:729a5f34-1b74-4276-89ba-2a710103e932 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5380d017-d25e-4b36-8483-5fa9ac706288 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ef967c4-cc7a-4c37-993f-8e10c88116ce phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25547185-866e-4f94-b744-1ec2beb36065 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7c1f09c-8a5d-4111-a9ee-88a6b2e06efe phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:436ebb98-4f63-4772-aaa1-1f14424e2b39 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f13ae3d-bb67-4eae-b834-289e70d7def4 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3eb76b7-2f86-46e6-9055-8e389a89921d phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31379fcd-c6de-49e6-b579-19ade30ffa9d phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b19476d0-b767-4952-ae9c-a68e6216c1af phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad181320-1a59-481b-84c3-e90f6a7c8500 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30d46711-819b-46e8-aa8f-d47492e552c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89147bfc-8a8b-4edc-948c-8db9f88c38a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec3c821f-fea2-44c9-b865-86d7a6a70116 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66063af3-97c3-4492-a348-989bd3408878 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10fdc991-57db-4fdd-a81d-4c511e0db232 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eb300ad-db91-4660-a3d2-fef16a9f4729 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6daec159-f8ce-4161-bbc3-b7170d1896d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8058b08-894e-4a06-bfca-12d9061b53b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3989657-16bc-4b4e-a592-86ba3cc3f97f phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da338054-b55c-4a09-a979-b804a62d6918 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e306b349-3acb-4cd7-bf70-e1f8068db06c phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a80b260-aaee-446a-995a-314b592aaf30 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f812d52-259e-414d-898e-eb28234b5d70 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0925a0ac-6206-4d42-ba35-53a25db78408 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e0caab0-30e5-4be9-95b2-5669ace6e298 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19225ea6-ed9a-4e16-a09f-e39843c3339a phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46f092d3-1bce-4f37-8892-637d6df6eeae phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7ec37f0-d57f-491a-b047-aea09c89520e phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:feeceb38-ef30-450c-b70a-0cdeaafa79ae phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c68249b-fe82-47d1-bed7-d681cd10fdb8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a436c7d7-efb5-47f3-a5b8-12682228edaf phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2d52cbf-2341-459b-9292-ace0343545f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d8b71f1d-6d1f-48b9-ac4b-2489a4a10e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a632f339-c1cb-4b5d-b987-ac749f1a23ee phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:435b10e5-5932-4b10-9d9a-3ea74ae16529 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f681ee1e-5e9a-4441-ae8b-464c0ebb7ae5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:777b4011-7eb1-4e81-90bd-bd5e491940ea phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e232e1e-cd4a-4919-86a2-5233315ce81a phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b51ece27-cc1d-4a25-826b-797eacd546f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b1933fa-c2ca-485f-a645-4750f4987867 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:93e275e7-c9f3-44ed-9548-4194350a0320 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c4e5b75-ffd5-4fb2-bf7d-ef1c3ffeba6b phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6676c9c8-18d3-4e93-abac-dc94d058542c phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:24665a1d-8e59-4627-a484-fb66a17c0af3 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1f9dea6-a542-4e50-a839-0a026ee68ec5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cd5f3d7c-e275-4377-89ee-c10011dbc336 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6b36dc7-5208-42b9-91f3-37843dd14e3e phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:255a45bf-e90f-4ad8-8a77-c11611aa96bc phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9a65bcc-908c-49de-838c-8df0058547db phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a26c411-107a-4ea2-9c3f-267650333398 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5b3e8be-47e7-4409-b591-0b590c3779f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6af0f6a2-12b0-468c-ae4a-a3df860f5a82 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36169856-9265-4734-925c-1009ae662981 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1988a89-213a-48ea-a108-592e5ea4a55d phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:010cc785-bd51-4d95-a125-d2a3aec1e473 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39ffb9f0-22d7-42bb-bd63-b5ed78e27c27 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f9ec9854-e8e5-489c-8163-263670786103 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfdb2e19-5aa1-4d5c-92bf-80d55be741bd phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffcc249f-2147-4be0-ab8c-7ab028e2b2ca phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de270e6e-6640-40d8-83b3-e4034a7839ab phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9beebbc2-7955-444f-8922-ad7062f7fe78 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d50aaf32-1d42-4276-b8c5-96fea7de83b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a92c9e1d-1517-4226-8aba-9a0bd3e746b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73f6f7d8-19be-487c-8376-b8f0c0dee4fd phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:107efe86-1713-4d09-b627-56ca81b1d570 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f71ade0-0b84-48d6-a4eb-61a8f370cc1c phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0439cc6d-b2e0-4178-aadf-976a86c5a1de phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b58c6291-f5f5-4482-b84c-a971d582624b phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b558a87a-278a-4e79-a58e-b0c0b4159dc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eac298e9-18b5-4c34-b593-288914f18f51 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:137170b5-9c04-41d2-9ece-185e9df88a2e phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4007d0b-0597-45f1-ba59-9fa107b18356 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:caadea1c-1803-47fc-9b09-d9b9b58730c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:531289c8-475e-40ba-b075-fe89724a5d26 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4470e809-e2b6-48b9-89d9-9171015d6178 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:010146db-70fb-49ba-91b8-9b5fd9a59e02 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af7e7586-0370-4b9f-98aa-bd7fa9c2d66d phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:960b72fe-60c3-42b3-857b-ee7238e2c505 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ab01baf-f137-4a3f-81e1-f0a94c898340 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cea10edd-8aea-4c26-bf8e-aca3b84ef4fd phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:372c528d-5519-40b7-9a4d-509ed3d9113a phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e344ed4-578c-488c-a8f8-cfb99f15dcc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e01c579-5e47-422d-ae61-48ac16ec59ad phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05aad2a0-fc6a-4b69-a449-402d4f31764a phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34b9b975-fac7-447b-8115-a174464969a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d37eeeff-8add-4fc8-8a5c-bcb8517d2292 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42780e56-4832-41b4-9494-137a01a82f78 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16726ea3-6289-434a-ad47-8a5ff6632538 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77490992-0e3b-4101-8de5-4b4351fe6b06 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1ec51257-a21a-4414-992d-ba9a4a661d71 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:146a5678-aa73-4051-80cc-4f40de873925 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c6572fc-3363-4b4e-a171-f3872b2078fa phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6f5992f-565d-4b37-96b1-987e2c665f14 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f62c4495-c719-4e1c-b0a7-caccac8264b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75b91327-1561-49a0-8db8-056d6d3ed826 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ed51471-7d58-4301-9497-12c07796af58 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1cdc313-3bf0-4f08-868c-fd2ec0e4101f phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f06ace60-26e1-4ebe-bbdd-e4df7e9fe441 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c0cdf49-4a34-4016-a8c1-811f1c8f9d94 phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b80afcfa-4ddb-490d-b955-2ca6d79828e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:449832d1-0d2e-49b3-b050-eb1fecd7374b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95492d25-948c-47aa-8373-cdcad34b1ce7 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e2f444b-8545-4cdf-ad6c-744641010429 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e68ec2b-3be9-4c4f-b26b-7fcc380da5eb phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41a14809-a6d1-455a-b5f2-3bc22d056c35 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ba8f95f9-e593-4ca3-b70d-221db3a88343 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d7e9e343-4633-4c90-8fa2-e1babcf9d084 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4084bb08-23e8-4bb4-b414-0d1e11f0c245 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:42182cbb-6fec-40c3-ba2b-61559d6d3396 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:14d200c5-0cf2-498a-ad0f-2a5aa6d9767a phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e84ed21-266e-4037-9c42-cc8b8b5e4cb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83520d0a-d574-413e-be64-fad78c69f852 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d2ff0e94-366e-4d8e-ac07-42d599b1c941 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:997cac08-c31e-4bfd-b303-e60dec1d209e phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b0a406f4-ae50-4a33-8586-5e027383cbcb phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d5c7b82c-a133-4bd9-9b68-f4c0f91fba09 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b78597fa-e464-46d2-b90c-aa1c27029f7a phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:27e77b7f-c157-4659-9f0d-d6c767a81cd3 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2da62358-31b1-4cb8-9edd-fc0bf2196e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:989a0002-957e-4a9b-bd57-1ef47ae1d85b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:95cd2fbc-32cb-43f3-842e-a3b491e106f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9b652d04-f025-4a2b-9166-f054926dc4af phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a398fe8-abb4-4a1d-b53e-2fe40f40965f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ba8d4ee-a4b7-46cc-8e0d-c82c83204390 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1ab6093-cede-4c7c-a840-1bfa7c52d372 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c693de1c-0fec-4f7a-92cf-cbe554946abf phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9564409f-d7de-42e5-8c8f-223b5f86ba4e phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfd8a5dc-ee60-4e22-8039-1201542b8fc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10c798ce-044c-4f4b-9759-a78c2f9de86f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d9fc2c7-7bb5-4fe6-ac66-b5730642a234 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88003898-f206-4dc2-ba8c-978b13a28d8b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d57ca569-b6a0-4f62-9974-b7a1fb0f396d phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bbe8763-517b-4e0c-823d-45f846a1d4ce phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bbe25b1-ed9f-4c6d-b920-023c3905b6bd phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc568eb8-0560-482d-b943-431d77ece5e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ff32e87-c0d7-4da7-a3b1-dc9e03b01a6b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5640b0e-7e28-4bc3-aa9a-813e836a2351 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2eb24780-438c-4a3e-a840-586ca4ee8e03 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c97e6d5-1cde-4b4d-9322-aba038b338e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:930d3ba9-b162-41b6-b4ad-21a97fc0f9f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d100e8f2-900e-4acb-b6db-e3e9fd7fa012 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7b8df2d-2a57-4301-bd4e-b62c4b358f1f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:628498d0-2d11-426c-9b88-05a4ff2d2ef4 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc09ea1a-71b1-4d2d-ac9b-65813bd64683 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4b3648d2-84d5-4e66-bcc3-3e3903d339a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71812e1b-dd2e-4d30-8ea2-d3921d03dbf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f07a8f3-2200-44c2-bd1b-2d70981855a1 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e301d0df-1722-408c-b2ed-7d43b3cd97a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0b70dc0-cac3-4f28-aa11-7d18d759eca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55ce71f3-d621-4091-9fb0-f24246507c7f phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdc62288-0dfd-4339-be88-b2ab86be6bd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5c10092-5571-4fe6-9616-1584d5a59f3b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97795d5a-c5ad-478e-a0a4-e5faafc069b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9914efd3-99c7-4b81-b1c7-634c9b767db7 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36dcb7cc-eb6c-49b9-9bd8-9dcb45a47f5b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:282b00f1-a14c-4f8f-80e4-2924e54bedb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53144b5a-1c63-4f64-8336-f8786b3488bc phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8bd647ad-2a20-4613-bb06-54ab66420b7b phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bee07a2-2cb9-4bbe-8fbf-fa143a369d58 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a975505a-15f7-4faa-9b83-70639df20508 phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:84ad9614-b00f-46b8-85c8-c2644a60abbe phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f5f9902a-4058-4614-ad6b-ad21032684ca phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ebc3ecb-a5b1-4b02-8efa-754be55a06ae phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:70fa9f53-4772-4bdc-9086-a9cee7639284 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fd373379-1666-4703-b9ae-0ca255c8c8ae phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b7db907-84c0-4e82-b258-13e9d1eb848c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1dc31e0b-f229-4781-a2f0-b1227abb2a0b phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e70d0d0-1740-45af-8cb1-9bdac6731b56 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7191587e-a4b4-4529-8829-142d66ed465b phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad75da3f-b5f0-4109-a69f-36cc7f81c679 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:38ac5004-fb42-483c-a9bc-746a1a2e2b30 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cadf68a-be51-473f-b39e-f01302798352 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec76b5ef-ddb2-4ebf-a9d5-4eea955cf60e phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7c98036b-36fd-439e-8dae-1c2fc1106a61 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:33822d96-5712-45aa-9a27-569a45c46572 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ebe941ce-e8f8-48a1-8fc0-fec22bb8ec72 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:631423e9-19bc-4224-bda5-806f7aea7ca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b73896cd-003c-4ba8-8ce7-62d922b55c33 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a766d0b9-8a2b-4c18-97f3-a18bbaff7cb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7d2681c4-cf8e-4a16-832b-881f5172f6cd phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca49fc9-7347-41eb-8527-468f94f1792f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61570b70-e2da-4569-93ff-6c6d7dc841f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:439cbe8d-dbff-45a3-a107-44dc9adb2835 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a02b26b-8eb1-4aae-a44f-a76fcaf1529f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2354c74-6acc-402f-a213-e634471f86a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c9cdea0-1fc2-464a-83c7-e08c05689170 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fce2d6a6-dc49-4ffa-ac90-a5715fb802ba phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2dc9895f-472b-4cf7-a28f-89217e2d86aa phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba6e2ea5-cc1a-4e7e-8f3f-2ea61fc1f733 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aa7308af-9b78-465a-809a-a2278047f605 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c72265f7-bd8b-4817-b964-5101a309e5a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ae1063a-2684-404b-a159-c2a282dce828 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc27c814-5af2-4dbc-b32c-de3461ebcc8f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d9ce8fb-2b1b-4239-b337-04c2038f9e85 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c1f0f88-61f6-4dc1-b295-96a10777e9bc phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:167b2c0d-56e4-4713-af9c-43dcc58d8fb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a7ddb46f-e7d6-4fb9-a7da-a93bb0f4ddd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c454eca-d220-4a72-8555-0f470e4454d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ce67e7e-ef51-4ffe-8c1d-d135cb28123c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31136201-ea25-431c-ba97-bbb31959329f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d5ca16f-1040-4c64-9a4c-2fc4f6081bf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bbec8c5-1ec3-4215-b344-4fa65a908f9f phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb6b272e-ccf8-42fa-9f49-d68ecf7f1d4e phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:698f2091-dc31-4931-93d5-451d4e173e13 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6734f99d-f156-461c-a933-a34063433868 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:177d915b-fbeb-4a98-adf2-f7f8d7067fa9 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff7935d4-3a6f-43a5-9cf9-1f67781dc8f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0efccf3c-a1f3-479c-b374-5165d856ab22 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12d07a1a-2b62-46cb-a52c-6bb84f6bd60c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2659ebc6-74c3-4796-b9da-2c1f37fa54ed phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3788cf82-9540-4aa3-b596-8dea5d864aca phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18a1de75-d701-4374-812c-ede18b5f09dd phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce5c4826-1bf2-42c7-be2d-e97fa64f382c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efedaa06-2148-4eaa-8d8f-0a244b357872 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0debba46-a65a-45eb-b6d5-f83011b6b61a phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d4ad0d0-bf1e-4381-b972-188c1b71a157 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd166063-9dc6-401c-8e20-9eb6d8db2680 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ef020461-2d8b-41b1-b3c5-c09d5a91451c phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b78f4f0e-407c-4de4-a4af-f8277c311d0e phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fdf0401-c863-4fe5-b72b-16d15b5a6623 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bd24426-96de-47b7-b68d-910f9ca8d0fb phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37464021-6c6e-441a-b0da-4194951c4904 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c101783-f65b-4374-8954-36404ec3eef9 phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a01aa83a-761b-404e-99e7-62c93c7e11fb phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa628dde-0bc7-4b68-81e6-f24bd39e989b phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:6c7b6b5a-a12c-4155-bd85-a9018ae91d29 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54adba98-8297-4b32-a42b-d3817d0c4fc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:827e03fc-1731-4643-ba0b-b488f0260dae phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7523142c-aef8-44bf-a285-c9508f4ea03e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47447323-3b9a-4775-8d50-5c9cf593094c phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:756a0016-eb8e-43bf-b106-582411c190f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:53a45a9b-9df9-48f4-a2db-5f451be087c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d906245-8e5e-47f1-aed8-dea6d4808910 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52df1079-10d9-433b-8fdd-bfbdb8bfdc44 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9d8d1019-74dd-4e6f-9b12-15ab12275626 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5600c4cd-7e17-4ed4-84eb-19c5ae72101a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e864036c-a8e2-4f9f-85a3-510f1f8c2614 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab49f18d-c953-41b0-99f1-16fc99cf2175 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4151e83c-793f-4499-bae6-e3cf3fc774a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ee137349-df9f-4840-91fa-eab93909dfed phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d037eca5-96da-42d3-9a61-b713607bf7a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d1dff877-f846-43ec-bdc8-eb8918497b09 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f2c72aa4-24ab-42da-aaa0-c2a5ae8f671b phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9f2e14e1-6c9c-4f6a-aa0b-3f0609a15c6f phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3a4b497-abb6-4d35-889d-34a837acfb03 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:607df98a-cb28-4bb8-9fc2-12c2dd26ab3c phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4a97fe3-e262-4ea2-b1fd-8be6d56e11ef phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8f351825-bdb2-49ac-a5aa-e63d9cf2ff96 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8171b4df-bd1f-4d6f-8783-afb4eb86fabc phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9a06bd59-710e-4f17-b7f9-7a545eb1c93b phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9e3a774-a3fb-420a-aa1f-cd144d4b55f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14c04c69-ef72-4c0b-8e84-456b78908749 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca9ec7e6-98fd-4c89-b0ea-f40865e7c39d phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01b97108-9551-465a-a04c-69f03c2c01cf phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9dea9a46-b515-4aba-9df4-29aa9229f5bc phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cec6e32-daf3-4d8a-bde6-4eff3927fff3 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f44ff96f-fe68-4bcf-b4a8-6eebae78232a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:522a070e-c13c-493a-8a25-4b7fcffb3264 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:655bc5cd-5560-4417-b90b-42bbf9eac204 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39c04d6d-ff26-470f-8caf-8ca9488ae24d phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cbfafb7-7632-48b0-90ee-c605ce1df995 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7343e74b-0ac7-4197-bc23-9395dce32432 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf81caba-780f-4ac5-ad5b-f2b508d107d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c8f3255-8a4b-48cb-b213-3a72620ed520 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad5623d4-54ad-46c0-8866-be77b8a17ad1 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f9a1235-0218-4793-bfd8-84f16bba7eb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8132e3c8-60c9-4775-8b09-911806704338 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:951b696a-6c5d-4d5f-8e0d-49243377b895 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6a50f4e0-88d5-4e15-9024-0121f771b6e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06e4be08-a417-4ed0-a4a0-1a87654694d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b89d2cc-4db4-4ac0-a04e-2c4303c4cf10 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa526d7b-8a6c-41c2-b847-605addc4b306 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8979008-8b5a-480f-9270-ddcfad66af82 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ddd89dd5-0c6f-4c0a-bfdb-6720ca14c4a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a90dfdd8-8fa5-4326-b41d-48c1ad86a485 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8186af6e-3275-4090-8800-c7f0b242d44e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecc22403-55e2-47a8-9e25-b2a1cbb4db6a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88ba6f6d-c5cf-4e53-b950-1be21da15e5e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ece7dd79-858e-422b-95d6-f9649aad4c0f phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1b10c55-db58-47ae-8615-7c947f527879 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2db261e9-3853-40e4-bdcb-40dea8568b80 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f26cc319-fb92-4f26-803c-018efc478e7e phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:525fe32a-738e-4e33-b548-8d34dea324d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90a37cef-7acf-438b-bccb-ca42024e4b3d phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5719eabf-08cf-46ef-9231-432fb8e553c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a1d9df6-aa3c-468f-a8e8-8d60ce835217 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d528ede-9241-4060-8f2a-4b934540687a phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee89459b-c15f-4b92-9e6d-2c4067cf4519 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45c620c8-6e04-4872-a9df-41fe7d012180 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:427a810a-029d-4688-a418-14e89d20d635 phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37418961-5012-457a-98a9-3bd83a5815bb phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:1f4f95b7-4413-4f69-a6cb-65d42eeef579 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:641fba45-b020-4eae-a776-ef007ae77c45 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f3aaf765-43a7-4e7d-9f06-5ac08cad237a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4fb498a4-7c9c-44cc-ae26-a5385fef1cd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3707105e-0b32-4709-81a9-d53306e27646 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a27b3fd6-1361-47f1-a595-dab2f03efa85 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:35db82e5-3f46-4507-8c13-dbcb2702fc95 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d82fb70c-6ca5-4a9f-9d61-f33efbd6d3fe phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e31e6d8-0ccc-4795-b99f-ddf8721455a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3742d611-7db0-4926-91f4-a94b90f76964 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a9f7097-4397-4c25-83e7-1dfb43c53328 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de5d784e-ca06-4129-b710-4071d4ef2f8a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:064058ce-3280-4bb5-8a8a-871e1721118a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0e137e86-d348-4d41-b740-7e5ee79f78cf phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f738528e-9782-4eb2-a994-0f75695fd083 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12e92f41-d207-42ac-a1b0-8ff6dc7faa37 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a7fcc583-21c9-4e33-929a-2f855e4b19b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:576c2e2f-c6ee-45f1-8a80-633a01c4108a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e33f31d7-8d86-4d5c-be8b-e748c730a60b phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:55f7fc0d-ca86-4b49-a338-170304c32117 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d580ee40-0dd9-4bdf-990b-d928075c7a1f phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:808b1783-e963-4cb0-a68f-06f86ddbf8a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7c4aa820-6ab0-44da-a1f8-8456ce19d714 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:24bd6f67-a932-4097-bf4a-f44bde995c3c phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:334e4b12-e2e5-4bdc-afc4-f60d9d08ae1a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad397625-d67a-4f33-a7b7-71e8bf819788 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9156a70f-976f-4003-b51f-cdda9ce889e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b93d4c60-a5ea-4307-abf4-8fccf2740dfe phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:592c94ba-430c-4252-b656-e950839982b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:474fd75b-6c62-42e7-8537-ff3aaa169af3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90311f2a-20db-4059-a224-868ea3579e37 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33a32d97-7efc-43a4-bda7-6b219bc848e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d675ef93-ca33-4f04-bc95-2752570371bb phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e0a3a07-0dac-47b7-90a6-06dc76f9359f phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12510c34-4b06-4cb3-85ca-508e5ad2134d phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b70f0c6b-3b1f-4a6b-aa35-f42a5f48a4bc phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c5db1fb-a01d-45e6-bfab-a25470e660aa phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35f18a7b-2547-4b74-b956-ec718889fcc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:252f238a-9448-428f-be72-5fcf28ad40d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48982996-855c-4288-a2b1-291a2748d5af phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25aeb77c-ac1e-42b1-bfc2-682dd1899d5b phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:827944f1-a89d-4514-9cfa-0b1cbd68ec02 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:826cfe39-52b4-4632-9241-f59fbf979460 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64d24484-ec2b-48f0-8f1e-e3de4043682d phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3290e97f-5768-473f-b8dd-fb52cf17e94e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24dcbe49-b303-462d-aea3-fa72f0851a53 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f560fa5f-a7e9-4c0c-8708-1999c028ca8f phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:65f0dd19-5f52-4a1a-9d7d-aae6d8762445 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c6f4a82-23d0-4814-b3c5-49a647345ae1 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9faa3e05-f3c7-4ae9-80f8-cdc858331c6e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29591bb0-8303-4ee5-8699-7abd85a1e085 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96646bbc-5b73-42df-bfa3-3fb27805c7a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a64adc94-58f8-4360-acf3-b5af412dddb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:410cd98b-ef12-4359-8974-7673e611f38e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73283e90-4e48-475a-8e72-143aa5cd3c25 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e325124-ccc3-4308-9700-9147b990353e phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a6dec9e-d422-4adf-a2a2-a964feca15da phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9a6f6c4-eef3-41ce-86cb-5a5c38c38a1d phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2f44bd5-a1e9-4456-9779-e49e97b9a077 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ad36770-cd55-439d-9cdd-4c2138af99cb phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60a7b48d-17ec-49f0-bb54-699ee4691d94 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c05ac8b-dbbd-426a-ad88-b117879a2297 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1379ee97-06d4-4ef1-a75f-fd460f51257a phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7aa5f427-f254-4163-a979-18702c1093f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:666caab9-fb71-4fec-a46f-9b56145d3dbf phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:e9546283-e2c7-4212-a740-ccb62538a059 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:440fca39-5fdd-4fb6-948c-d0fb07018275 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:01d3296a-f9ca-41cc-b0f1-a7cdec9a7e99 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0b1711e7-db98-4688-aee1-26596afbbb13 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eff7c61d-7a04-48a4-a369-0eb1d4cd6494 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3081c17-5e54-416b-b59b-33f5886aa1d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e2e21d4-5d18-4e80-ab38-bd4a36394651 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:122dafe3-6b3e-4db9-b28e-3543001f96f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:45d1ca76-c7dc-4a12-aafa-bbc0bb75eb4b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a2991cac-95d5-435f-a1c1-a68e5c0c4067 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:100fa0ab-6461-4c61-b449-0d629db413ce phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ec81aecb-cb98-42f5-ab99-fd3e73182441 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf555ab3-b250-452d-abd4-f20b01d841f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a8900cab-6df8-499f-8090-7aa61f1ff96c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:287ccbfa-103c-458c-b719-2b698c0bf30e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96d167d0-1aa4-4c49-bb82-bc524cf40236 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6697d840-4926-4001-8ac0-9f45eb862066 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4482349b-9894-4aaf-ac2a-8a4ed5e845c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6dd8876e-a104-4578-b591-c9be4b6574e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2aee306-82e0-4530-897f-539210a8c4de phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:87276699-5373-43e7-9495-f35ac0c8abcd phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3facd63-1f10-4ed4-8f05-daa8d12ac47f phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b766033-59ec-4301-b246-218262609208 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4c18ee3-21c8-4733-8dfc-a696a9c82b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28b75e51-9c6d-4479-b33b-05419c9deb14 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9c67286-dd79-4962-9713-a02af0e1c648 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e1cd761-26fb-4d64-bb91-52fdfef498cf phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12b7d40d-73ba-46be-a5f8-13c1e529c78b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5d3d582-1bd2-41d3-b6c2-a73498ceb7a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d902c80-3b04-460d-80d7-05857eef1086 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a38f6456-0bb3-4116-b2ed-c73406726c7c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f78a2a5-a48d-447f-900f-3f75ae4abc39 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80ba28b5-4c31-44a3-bd50-ce0cc01711fc phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e6fdc02-7365-43de-95e7-3ea4eb53afba phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f78c02f-6eb7-456d-b992-d9ee55d8ae96 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:33e400f6-e777-439a-9076-44e82805068c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0736929b-f817-4aed-a0bf-69fb090b96ca phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70530478-d1f4-4c2c-a022-be191fec89b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05c70d85-8ba7-473e-bca0-6a02bb2a8678 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2e5d12c2-9450-47b0-8cd8-95331716a501 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0de44a98-6192-46af-aecb-077f60cf7c6e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bc87157-8948-4c78-8365-42ce5758112d phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d52bc867-22ce-4771-ae23-8a4715d657c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3c69f5a-6408-4d69-b302-fea4292e016d phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df96ebef-b599-4762-a412-4413268d4c1f phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f829d9f2-bf1f-4ce1-8364-30ed180e460b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae1b23a0-fef7-43d5-b042-e1a0689193bb phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffeba39e-1235-4a4e-8aa6-8e931da7696c phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1f1d5df-c017-4e87-95f0-34b1dc382dfa phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc2be570-4006-4ec7-9174-bdc4a7f4448e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1d6d69c-7469-4aa0-aa8a-f28413f63899 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9636e146-02b7-431e-995a-b6e8abf7e033 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e40233c0-1ad3-477a-8d3e-d63561810fa5 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c156f0eb-1574-4124-95d6-d5266398da0d phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e724a82e-c4b3-4cb0-9686-eaa45746b0ab phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:76a63f5e-8cfb-4a7a-b1a6-5a3f1aaa500b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54bd4980-07bb-4264-9a57-74b26dd37ceb phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d29b1d40-9e21-456d-abf9-b64d0a7aca3e phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ff13ea5-dcdc-45f6-a1b4-4b5d218619b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c58d0a67-aca4-4b6b-98c1-51c4de6e129b phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84043d4b-b0e4-445c-a22c-05704c18ea1a phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ac0ee962-3370-4f04-915c-0260af5fd7b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d591c1d-e7fc-4c6b-a1da-b458d15e6194 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f56c7a01-2cdd-4a86-b486-806a42495e70 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5376c73-1b65-4e89-a1c3-eb08868f2f03 phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:37f75521-4c05-40cc-bdaf-ef56a385f740 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4437b700-946b-4885-82f2-e26004ba167b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5f5bc650-3dae-4e61-bf32-325e4fe4436f phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b588f5f9-8810-454c-a569-dde59bb1dfc6 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:298c06ce-0f74-4f4d-9a0c-46c715e43bb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:88c1859b-1b2b-40e5-bd19-8236960f9d31 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:be15235c-90c5-4f1b-affe-e142fbb0f780 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e85b0684-9f85-42bb-9ab4-01e8e69fd252 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6146e731-e0f6-4194-9148-2f5e4b978c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d79545ca-0720-4371-9390-dcacf6970707 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f57f5948-edf2-4751-a8e4-ddbad0e94cfc phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ced8c7df-ea71-4c50-b007-88a8b8830a98 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9db4403-11aa-4cfc-b37d-71fae41ad6fb phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7ca337c2-4316-40ad-945b-ad9e510eb66e phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8dbaa3da-9bb4-406a-b575-36c1938a3605 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5166f41a-e91e-46b9-965e-2f5c26669c52 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:974aae3f-7009-4b01-a54a-7953463a023b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:745ba7d1-bcab-4e88-8334-e14d312af3f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6c60a0c-bb1d-44c0-b4f0-3443908d4361 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:814bba03-d3cb-4c4b-b81a-8fb588cd4930 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff0c858f-9ce0-47f5-b65e-c6dcf2904615 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:868edfd0-5d6d-4306-96a0-2d60def9fada phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c903ee3-cd3f-4091-9486-587a8e1befcb phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:00dce27b-c95f-4ec5-a82f-ab19bea4d60d phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:885ea97d-2e3b-4653-9051-f48371842144 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98aeb6a4-664f-4b43-8561-4a977735558b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b2682ba-e36f-4d8a-9809-c6f7bc3bbd4a phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6587e93-52fe-4be7-b38e-c7acc55e25fd phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51e6c4b0-72ea-44f7-9055-21afa29ffc49 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60891aa4-48e7-4f91-8ab2-b8d683aea2ea phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4db58fa-f298-48a4-9e43-59f9c26f2ddf phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1777122f-ffde-4dd0-ba5e-c21e89aa52ac phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75aa4efa-4a03-45a6-b521-2d25f0d9933b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:acf34c3d-d82b-48e4-9fb5-f6f1390c50d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ce614e9-0650-413f-89e8-4f9043525276 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4d1b95f-b0f5-406c-a558-6f398298059b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5b70d1c7-ae57-408a-9b6b-a12616965a53 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12f1584c-b61a-4424-ab0d-030efb79d43b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d64b9f3-7f98-44a6-b1ef-2bea02045e63 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85f5c8f8-4f9a-499a-8da2-459c301f36ad phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3eb7eb2-9638-46e3-869f-761b5576a2de phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba3dd1ea-a0e3-485d-bce1-c98021f37f28 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ad8d046-4e97-49c1-a603-3b8727bb35c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:162d3ede-7c8d-43a8-b338-5f51f960ac9b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:916c6616-3009-418a-9d04-3ef86b612d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85cfcf86-2649-4ecc-b254-958890f7aa6c phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d305c999-1d46-40bb-a9b1-62fa4b813bce phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:caf4b0d0-52ce-4834-affc-260c1fe30c76 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e27527a-2ee2-4c92-8144-45d8d3cede74 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98c4f1d9-88bf-4569-bb82-c9be595ff1e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:519506e8-0f08-46fb-a317-b3210356ef2f phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ece40276-2233-4ce5-92df-1fad23620837 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfdbfba1-a483-411c-b02c-799697bc27c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e8ca71f-ada6-4d4d-bd77-099d8bbd7244 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6ea4d10-086c-4bb6-a6fa-4bdb2359046a phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3a2f2ac-13e1-4ff6-8f61-972e84b87936 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b05af797-20e1-4035-905f-753714077a39 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f541876e-935e-486f-9321-b054235e9f9b phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f225c8c6-a714-455f-8e00-23e9962d2dab phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ad600b8-16b4-4f2b-9375-bb5da17d6d83 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1687713c-2397-4d50-9f16-573b32908b25 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aeba4cdd-a49e-4962-b9ac-7e18ee7be484 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6356de56-85b9-4fba-a928-40377aebf140 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7eb5a3f0-9d22-4722-a0a4-4995931db5a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e0cb9d1-4a4b-4bb4-a0a1-28f04c46b8ec phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:679c3f8c-5ae5-4a69-864a-f97fdb8e6062 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5708f7a9-7759-4b03-8809-2e34e6fb1f39 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2b8456c9-3ee4-4c58-b15c-b39fc7f4f408 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f18b2a10-11ae-45b0-8862-8fa376deb532 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6765d447-5f66-4152-a934-734166fc5c6f phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:19078af3-3341-428e-984b-d37ab784a473 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1def4e84-70dc-46d1-82ad-9b85c4745ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03ed77fb-b8ce-4c42-a1a7-783801ab7722 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c4bf439-8bf3-46b9-8316-ae1390f4e9a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:360f73f2-600c-4a90-8847-711bae4ac7c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1d21931-826a-4e94-ad54-f2018ef7b4ff phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:15cb6fe4-9a50-4850-8034-a2a864a587ec phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a3bd3184-35a3-47bf-af83-a164608349d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:65b6c28f-c22b-4c5c-a005-bf432885be76 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5df1abac-200e-443e-9688-fc7f4def6cff phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca1e956-c03f-488f-a0d8-0321963a19c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:900e6351-fa25-4449-b88e-2b9ad84c382f phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cd30cb24-f024-4ed7-9ec7-ca97df787b29 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e20f943-a39a-4d56-a639-bd8bbca7e4e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:913dda72-9242-4066-bc16-f3a3e1a785dc phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf6d7963-9eff-4c7f-b1b9-3ed3375fb72b phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b14fc233-bc99-446d-bf9b-43435e032952 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab356d23-9a40-4013-b504-7252d5c7dfd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87828bbb-d101-4e6b-918f-fadc971ff369 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:491b7812-df0d-4a44-95b9-1243c3aa0be9 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19c1ba08-294a-481f-b97f-436bfc6b05ad phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85a12f77-17d7-4040-809b-8fd68f8860ce phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:537f4b4c-b87a-4610-a18a-66ca07558eff phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:877bfcef-c272-403c-bcbc-fc95acbdff6a phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d06718d1-0422-4e7a-8bc9-681510fa887a phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f6b911d-223c-478c-80f3-904d8e4c7540 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6a27f98-f7d0-4e3b-9c84-ef806ec32bfe phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2a6ce61a-4074-4b25-bace-1c841b31866e phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afbbedf3-ad8b-42ce-98d4-dad48c9c969b phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d50e6fb6-c99c-414c-aad3-3b4fe2088880 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94b64b1f-a28f-4575-8680-436626b27456 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ec67503-5ba5-4551-8bbc-3274f645bdc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c31c6924-b0dd-46ed-a8a7-7b40a041b7a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:213723cc-95ac-46a7-9ac9-aa70f8a33595 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f84a42c-768e-4021-8b62-201f21e3862d phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc7bb3f5-dccf-4636-b8e1-84c0fc8768fa phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d0b4954-ea40-414f-b74f-30aa7097d4b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbc6e855-02c5-42c9-8bb8-bd4c3d5470bb phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:656b6234-a61d-451b-a873-14291ba1bbe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:268a3cd6-9dd5-472f-8164-13bc74d0496e phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3defbebe-9a2e-462b-8fb6-c2edffd99250 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f552d039-7804-4e3b-b456-e5b619814478 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f7b5b9f-8da9-4223-9680-f96b76542675 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5f2c597-b801-4d90-8125-17fa6f2acd9c phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8556ecf-aa04-4d21-a7f1-67e5b52b95a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c54e604-5465-4208-8c1d-3aa079690671 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e60973b6-485b-4b43-99e9-4f43d6bca8c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd9bcb66-18fb-4c39-b35d-86dd702a6609 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bf56abc-2298-4735-842a-daa24bfafb42 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1cb5ef33-2c5b-4c98-9e85-90ba7620a7f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a7a49c6-5dfc-4c08-bc25-e00bd66abce5 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cfd3b63-85b1-4c7e-a2f5-42ecb8e05429 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2001886d-1e6e-4c22-a1fc-46a8c02f8a01 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1547b07-bdea-4055-98cf-fd3c3ad3bc20 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f246dc9c-10ea-4c40-bf59-4f3bdcfac3c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9d2c58ae-6802-4358-9fd9-7f7317eed5d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f14e21-f18f-444d-9437-76a1b99ba67a phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c704fe2-5b4f-46ef-9ec9-ae3424026455 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe323c87-0d56-488d-a603-535b4997cf17 phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67d5ded8-5c93-4c46-9dba-6a6a8ddaecaf phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:b6e47517-89d9-4324-a85e-ae86bc9a25e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:09829075-1c58-4ff2-8431-a14209f9d791 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4babc568-4703-45f5-9795-45c621d9e4bc phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6c2b73f2-6aff-494e-ba12-dc34b7fe7000 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:295a0387-4886-448e-a182-b65c1301c0c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b301d23-a1e1-457d-bd9f-61490e1c31d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9ee3cacb-d2ff-4223-adba-b209b53bc2df phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a4648bf-5542-48e9-8312-24032ab585fb phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0bca335e-162e-42aa-b28f-8419ace1c39a phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:28685002-fb64-431c-96ab-c59db10de378 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a4f9a18-5a2a-464f-a39d-cb542a1b5e51 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b5c9c03-ba48-45c3-9c9f-78fcd724edf3 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f81dad18-21bf-4226-b977-e8dd1b63f11b phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d751919d-d868-491b-a254-788b786c5f3b phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b30a7f7-1e03-4753-a863-594956e0353a phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55e1c850-5781-44d3-94b6-6cc1a9a3f0c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:717d5c54-32cc-4e03-a206-60045ed62bab phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23c841b7-70a3-4ed5-ac2b-c37bdc38bad5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e4ecf11-8977-48fb-8a12-08ca56a711ad phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b1e5f3b-a5b9-46e3-bd29-efe49a5cc6df phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f4ccf90-b540-4454-91b5-d2bc0e4570d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ccc0e719-7335-4bf8-b490-68590428c40f phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6f86d16-e66e-494e-be16-c10752c4a627 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:12465257-c9ab-4cfd-92b4-9bb0921f64cd phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73a4a217-c5e5-4bae-9ef2-050479120482 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf5a09ff-207e-4d93-acae-ff19b9de5306 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeba9567-868a-4605-a9ef-876565e7187c phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46de108b-d08e-419c-ba35-c5e1ce8329fc phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bee8a726-7823-4bd8-951c-7f93644bee20 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa3c20eb-0259-4a1b-b6b1-f93cdcc54e0e phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf7ca443-162e-44d8-ab0b-7571b650b198 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec31c3ff-a76b-43ae-9b2a-48e65a5c7d40 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:529e6667-cb71-410f-b5b5-1c9d6f2d763d phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ca1abf5-4534-470a-b68f-0756a68af682 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:def59cac-e351-404d-a7dd-d2d1a8a540ff phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c19d4f2-a8af-4b51-bcfd-a96edc281436 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ddf0798-f711-4602-995c-e51a372dc3c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ea91473-b0bc-4f17-8a9a-9f2ebbce04d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da7079ce-17f3-4ac5-a11e-1c9e382cd6c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2a7b057-c904-418d-8e20-68dbb44f7a9d phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8daa779d-408a-49eb-ab15-e4a2b308d3af phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d92abf23-5a2d-4567-b0e4-30f1284fd4c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6456a33-a643-4cfd-b972-fb01a9b08571 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c87643b-f4de-4c69-8404-5196146903d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa2d4f51-04c4-41df-9eb0-d4483d703c29 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c68f2ef2-edde-4e83-9475-ebc8bc2cf272 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee02afa1-8acd-4d91-836f-1ff7b2f2705e phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e83d8b91-3ba7-40b0-bffd-363969d1a48d phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1ff1e84-4961-4745-a196-9213f6b2d61f phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9f4f4cc2-62d3-47f8-a145-5698ba4bcc3c phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48099a59-e48c-480f-a71b-96921aec041f phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01e26e2f-f1fc-4632-9352-d8b7d2c55fdf phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:68be20ed-c9ca-4146-bba6-7aae359b0226 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5e741fa5-a9f7-47ba-94ff-bb6d8b5727ae phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bc038a6-b0cf-4056-80ca-aac6deffd2b4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6450c622-62fc-4c8c-b86a-d1bfbbeb207c phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fbdd16b6-e41e-4290-a843-335b1e2e9cc4 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc9837fa-d0d3-4ed0-a1e6-a296148fe7d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:07aaf6bc-8cfc-434f-9495-6ed5481a7330 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:998f3f42-15e6-40a8-b758-963bb42296e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:91c5a4e2-ff2f-44ea-bc62-572ddb408e21 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:122e8d6e-f167-4066-ae4e-676a82fe7846 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f5af161-3097-4033-9e9a-93b870e48707 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b46e463-4b5d-464c-bded-886ac46df487 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:401746d8-d1eb-4670-8e76-202828290709 phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:6081ae23-f8c8-4592-a521-5bbd60376d29 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8c4719fd-7fde-4a62-8ee5-4ed810ae40dd phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef22d040-5554-44ee-866e-6c9c3bc3e97f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c42c0b96-8351-4988-8efd-d1b75f359eeb phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d584bc68-b41a-4a4d-9b14-16f4219f8a21 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de9ae2c3-c6b9-4075-a7e6-a6a66a45a09b phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4297fb9f-c08c-4c8b-9849-c13301bf01de phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76f6cdbe-0e5a-462b-b9e5-5c5e7938d86e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:50635dcf-ebd1-4fc3-a786-f83131db3ff6 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1248418e-54ba-4f45-bc76-980115402705 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e31b9de7-6224-47f9-8bc1-777859f01fe3 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb92ae22-dde8-4167-8d4d-c9804085851c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4aa3bb7e-79c3-4dcc-b48b-ea886794bf3f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1e00048-6496-41a8-8cc0-1f8ffef0eca7 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc093a4f-06d5-4e69-8db0-b3ee961099bc phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6f225b5-356c-417b-b659-fe6e5b05086d phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4bdba598-2d19-4b6d-8a70-241f8481e608 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef8466c0-fa72-4688-a111-64b0d17d64d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:93be7980-60b5-4b52-86c1-298e7213c2be phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:27a9917e-a63f-4ddf-88fd-5a7fb26247af phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4aaf33a2-d775-4355-9f19-05f674077268 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3f5c414a-511e-484d-8be0-67f97ecb045f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:13b97d3b-8b96-4a65-9e4b-135cbfdd9c2f phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:48682086-46b0-4466-9c7b-2132ec710017 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d8ff63a3-091e-4efa-b386-2fd7fd4648fe phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e846d75f-d9d7-468f-855d-064dc8abd106 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:679a6814-ef63-403f-ac87-95e0c9d93ada phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:18c5160b-e2f4-464c-b364-bc587704834c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfa9d754-1dfe-4068-b54a-414dcf4a4324 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:899f5a6d-c239-4959-8403-aa46f3ba66e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea25f848-396c-4f54-8e3c-9592a0b0b76c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:671566b7-59a7-4f80-b3cb-701c6ced4a96 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb1b132f-ef75-4ed8-a084-41df02299403 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fa0b431-62c3-4a26-993c-df45731e40d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:73819bb0-c1c9-4244-8298-513cc80d322e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0dbf7c0-3010-46f6-b624-de74c983bf62 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61518e72-a38d-49bc-bc8c-b4e45e0bdfb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed64fa21-107f-4a0d-9f92-699bcb0aebc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75e7cfd7-2369-44eb-b59f-fbb95c35e2a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:040d10a2-310d-4cc8-a495-12e40477312c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1dbabb51-dc48-43bd-85e1-effd603f8110 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:595681cd-3664-4fb4-a20a-68de961feb18 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:841fdb09-f7db-47ba-8641-acf8c8fd358c phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19e18223-86d0-49ce-8eb2-ad45bee4553b phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3bf872ef-2d11-4f20-8057-d8e39c168af7 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2aeb22cc-2aa2-4812-8c63-56b8bea60e69 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7fc660e-d053-4f11-9f76-cae0a490eccd phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff6799c8-9689-43ea-bb0e-5b56d092034e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fd807a2-a965-452a-8fc8-53de88b8b4ef phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85fc274b-5952-46d8-b276-b18828c8e047 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbab41b5-7189-4092-81f0-4612c5825798 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f8003143-be3d-43ec-b5d5-a7c45ce7f578 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a3855316-b1e1-45aa-abb2-705e4a4f65fb phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c4c9af2-9f3c-4097-b5c0-86f07b7396ae phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b615c3cf-8d42-4d19-95a9-c951543689b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5b9965a3-6baa-4c7b-b7cc-d05ae25a2e66 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f680609e-dbe0-4861-a0ba-ecb0f09ad37d phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eefe4ea7-f5f8-4a27-9223-b527bc6a83d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c341f582-1094-4d2f-8ec9-5b5e327e7266 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f64dc7ad-3615-4ca2-be2b-75156ad4e69e phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:59703b6e-225b-40f4-8b9f-8e97eb012f16 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ed78d022-ecf1-4e55-a898-422be5be2eae phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80dc321b-fba9-4ff8-96ba-21e2d7268e39 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:84a25d6a-dee7-4b82-9225-bcb097127b26 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31778b63-4b67-4a41-b8df-d8c260dde7d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:fbcc914e-b0ce-4b2a-91c1-4df2b6958eb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5b65cc3a-4890-4a3e-b133-716c2afd70f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dd9d13a1-ad76-4bfd-b84f-23436d109fa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fc5265ff-128a-4128-b03a-689e653cc84c phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cc2f7af7-3be8-4f9e-be5d-26a39e3a6044 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b84237e6-dcf5-4ecf-9e63-af4a23f65b65 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:82e02082-e1bf-40a9-89cf-f16f96d23673 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2687d2a-16db-4f77-9fcd-e016620c1c37 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab6d61b4-f43b-4a1a-ab30-be403588297d phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c0221de2-e146-422a-acd6-7bcb0ddb07ff phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5af9671f-807c-48e7-b193-feb91d341958 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e4a8c72-d693-4365-a764-e21d82ba5344 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:58ea5ccb-ecbf-4cf7-8caa-de93c928365f phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f2920f44-a084-47f0-86d8-c36b0d0a3099 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b5a78088-2abe-45bb-9f1c-a1621c39098a phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83e1f66c-f01e-4216-a070-997636e4f9db phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4c8694a8-0c39-438d-bcc4-bdc0a365bf9c phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bf0eb637-2f62-45de-b51d-9f3160807ee9 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a4ee757-da1c-4f33-99d2-892289553b32 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:786d352a-300d-4ed2-ba6a-141f5a52ddf9 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:340a0639-5943-4470-82a1-9a34b2a6cfd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb082073-1e9d-4649-be27-ace565b57875 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dbbd1aac-a188-4509-bb0f-eb8e8d43c078 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ece93bc-d4dc-4979-8fb2-0c8bf5f8b4d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:426c09db-60e8-4532-82cc-e03e16603875 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8fc19d4b-4016-4709-8220-8ee43232ef2a phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ae34155-7db9-420d-a93d-6072ce9a7013 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3803efa-bf1a-468b-84ec-3370f6084bb3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ca14dab-dd5d-4b90-8671-660d4cadbd4b phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9478987-9936-49ff-a727-5564f1b698c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:764e6b4f-e4b3-447a-952c-5de2c2eea33d phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ccbbe265-7750-4665-ae27-2210d6af0c2e phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:397e3c15-6c1b-4ba3-8ea2-4af8083f6e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:558feec5-2f4d-4c14-ba70-2b363d082338 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2838d984-a474-4ce4-9889-6c3a7a38d713 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:658d57b3-f99a-47ff-bddf-ad813e38ece8 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4cab7cb7-ffef-408b-98d5-4585f59b0e72 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca33565e-f908-4fcc-aad8-a3bf6675fe7a phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:91c15da5-4b16-4b1a-b419-d0bf3d8f16d3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc53951c-775a-44fe-bbb0-8c02aa8b1ea2 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6af51dd0-8d48-43df-9cf2-00bc320f3284 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9c3d76a4-0337-4852-af1e-7f418d4d05bf phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81bc4646-caac-452d-b13e-62c26644b052 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df5f868b-0a93-4642-b8ad-568dad9c7beb phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47db3b63-3fb4-4aa6-a048-aafa53f25961 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f3b588f-1609-4d44-bbc0-39b7fe8fd766 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a7fa9f8-4883-4128-b887-0b6d4ca752ed phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f83ebf9-296e-4837-a02c-7598176d95db phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17214dac-8d98-468b-bc5d-10ecd1084c2e phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0421b665-5da4-43da-b790-eb0f71371fc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ceee9ece-1355-4950-a5e0-68556ec214c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:875020f8-fad5-47ec-9308-db00c6238ecd phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c194f028-3d1a-4042-82ea-a6cd2e9b693b phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0aa2752-bbaa-402b-9a17-dc1003d480e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:172fc656-cb15-4c60-8a3a-2455893718ab phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce498285-beb0-4db0-8943-7e3fc2de4115 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fe69196-ee17-4c1e-b171-f4cf67f64122 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a48d2110-7565-4d4f-8e90-a083b94337f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02ba3229-d217-4a74-9bbc-77bc2350c3ae phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9a016f0-c1ab-46b9-b355-19ad68b4aeb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e182998-3fcb-404d-813a-60878aea741d phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d03001ec-761c-4f61-af14-1eeab8df7184 phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:503156eb-d06e-4ad5-9008-9754616af8ed phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0762a48a-16de-4b6c-8984-e1bac98eceeb phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:d092ce14-7a1a-46eb-b01c-93f22b68e33d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a56195d3-130d-49e0-a036-50184dce2efa phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d2f042cc-dff1-435b-9a2c-63e6f8c82d1b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3b889a06-39e0-42c9-a99b-d8aa1ebfd86f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:acebf760-a91a-405a-9946-4afec8fe5f51 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6b9aba99-c48c-4a7a-b0a4-5c43123594cd phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ef283e93-b075-4d4b-8f3e-63ba2e51f65d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2d41292d-7449-47a3-966e-8156a5d80300 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:974dcac1-b105-47cc-b628-e576bd7cfe9f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8f062dc-409a-4ae0-a917-32d360104834 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4e03116-f273-4a00-b598-c6dded006173 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ecb602-7526-4419-af1d-005dada75880 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1ae5d439-0514-4860-bf53-ab1e2d864e11 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:468bf477-6f79-4f54-a602-4c6a216728bb phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2abc28d7-132a-4360-86ba-a290911f6d9a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89d55c88-eb80-4138-b03a-6398205ef352 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:127d828a-969f-4868-8872-cf46a5fed88c phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1feba6b5-eac4-4ba8-8614-e7fec25a3fd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86cc58e0-8da5-4a7a-8273-ced623ebc94a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3f305fc-f46b-4760-8c8f-81eef779bd31 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d83a37e8-b526-4570-9b42-0fd1ab64f2f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97e30600-c226-4aab-98cd-ba45cf575a85 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe54a9b0-85d2-4ac1-aa7c-281a11a0de46 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95081e8b-6409-4621-95bd-d2a838dd85a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48994e4c-8f7f-4b5c-8503-4bcaa9bd30a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71262513-aa3f-4168-9233-cb146a16f87f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:703ab81d-ac60-4692-ac02-f7257f6f2fc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32aa2984-d36e-466e-ba02-5812983559fc phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc093bf6-a69d-4ff5-a623-75fda9216b03 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4012ce83-038e-42c4-a33a-d27ab3463f86 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d7e5df4-3499-4845-bc3e-e1d3d6c9dbac phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c78dd956-ccf5-4efc-aa85-9d485f7313ba phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4dad4a2f-959a-4b31-803e-a23903b7c5da phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4bb2491-66d8-4481-ac01-7682861ca72a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1e72bf3-3bee-4150-8bb8-6daa62053368 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f380774-0fb8-40bd-ae70-f5edbe47685c phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f12e6c5e-2632-49a9-b218-f807c0052890 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c27eb18a-941a-4d3a-981b-6c78470cdb07 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d9e9f2fb-1934-43de-9897-5c8a0f8b4d4b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81d1a671-90cc-410b-b619-9648ecdeba62 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d1e65190-e188-4c44-b596-af7e5fc78238 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48683cd4-7f3a-4b3c-892d-d73b0895edf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71569d4b-3343-43d9-8fba-c1bfd747cf0f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:364ae37b-d334-442b-8c02-b1b3117b6d84 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f232db8c-fa1c-4c49-a840-87e0407e699b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c04504e-d832-4dad-9a71-3eadbf9e501b phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c302d68-4388-4554-9e65-58ca15c63c0f phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6a26bfe-350b-43e9-a114-a79597c680df phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a646fc5d-1169-4939-8e9b-fa0f6339ad7a phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e180a9f3-886b-4640-8f28-bb51c903be35 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8dad46b4-8746-4de4-ac04-8f8b5cad7f40 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6b4fa5-53ac-466a-a18c-114f87854f49 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:927a99da-2c20-40e2-923e-38edda0ce630 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4cf4f141-bca7-4f0f-a7d2-f121210ea4b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a6471c9-1ae9-4309-8bca-c2e45543b8b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:38d7ca49-140e-4dfc-93b3-ada56d73f612 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d520c2e0-7057-410b-83d7-38e45b33de4d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fd64740-4483-4da1-b8e4-ca3bffd260b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:77d71f44-a19f-4870-ac11-cc9f3cc5db2d phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:469ea734-5919-4316-bf5f-58510e20aef3 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3040b816-d3ef-4ad4-beb1-4e512c6d1128 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a320b6ac-5717-42d1-90f2-e86602905759 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1e969d2-0c10-410b-8578-3ef484a30b61 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afa8e6ca-d559-4c6e-adfb-d50f837c5647 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18866a78-74a6-44a8-a21f-45171d23a755 phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:8933905f-0979-4cad-a911-da2bf631d541 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eea422de-57ec-4d95-9b8d-57ec4ecdd433 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a389ae5-9170-4872-b1da-c93b37570d3e phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8805d1a4-5fdf-435f-9cd4-2e5d50ada599 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6d21036-083b-4381-beff-a878a87edb7f phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc7fa8dc-7f87-45ab-b96c-12889b564f88 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:92e7977d-16f4-47df-977b-60ec31a32b02 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bdeb742f-005f-4213-b953-f406a71236b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ed840569-4300-455f-8e8a-b0af46a6bc46 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2bf54623-ae70-4452-aad3-674b67535e27 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e8da634b-874b-45d3-a911-b5b48570e651 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d16b367-0182-444d-bea2-9aff460e9827 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f0e0ef6-7323-4821-9942-a64f675b5342 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a9760081-4fa9-47b3-87b8-02ad1fee5be0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b46f4dc8-9995-407d-9a97-3a850d2f04e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a7e1385-dfb5-44ac-b124-ad63087019df phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:68ff6d09-50d9-423b-9686-ba8522e5d036 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:36f1fe7f-f13c-453b-9dc9-9e9efecbea92 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e45fff84-9339-4811-9432-4ec314deaaaa phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b2fa62f6-bc50-470d-bc83-34b704382644 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:04fe9a00-61a4-4978-b8c9-1e7677f8b63a phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c763e573-4623-4b07-a0a3-ef9c4347592d phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f4d8e2d4-86b4-41ae-a430-6932d5c2e8d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c024da41-54ec-40b4-9abc-4375a6afd2c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cbcde1bf-39f4-4331-b00d-f2622cf530e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aeb6bc75-d43f-4222-a9be-bb819097715f phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6cebfdab-a97a-46fb-b25f-b2340c93c3b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:578b55b5-fc70-4bf5-a3d3-051cdbb7dc27 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e25f8aee-ad28-46ca-ae75-2a47e9f09558 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5374c29d-348b-4e26-8f6a-9ccc1470e44d phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:23896482-2326-47bb-9f14-0647977b155e phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc270f0b-e7aa-4cbe-98b0-c0114d3e5b06 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:994adaba-109b-4638-b231-21c2967ba040 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7861cec0-eb37-4d4c-be21-ee33786648f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32b716eb-1d37-4d54-a34d-69a1d62d0a39 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:edc9a5b2-3f5f-4da0-9bd4-76dfa7aaae95 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7115de9-46d9-4321-8183-238005d7d6cb phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a6544f98-3efa-4c1d-aa78-114a7ba69e36 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0b18b418-1229-4c7d-a11a-ad4f0e7198f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:88358ba3-0206-4c82-bb89-031cd960a4aa phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ca70f3a2-c803-432f-bd82-3f0e643d9289 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:545960fa-5053-4cae-93ae-3201612b54bf phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec5b0260-c488-4ac1-bc13-f379619d0552 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8443ee1d-b8ba-4a9c-b1eb-4385c45a5993 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f824bc7-9d3a-4d82-9286-90ea094bedec phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6a2ba78-2269-48f0-b9e7-1dab55d5f750 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:715b8e38-76f2-4359-9c1f-25f2f71b378a phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90bb744a-9b63-40f0-bdee-a9ed4bc828cf phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1527ea1d-9cee-4f46-91e8-a0e22e970461 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c571df18-3987-45a0-b9aa-798a3aa3cdaf phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16c1450e-0bd0-487e-98f9-c078b2dfbdb0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85db4d01-4acd-49f8-a06c-3f255f855cab phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c4f6732-8ab5-4aa7-b3da-9efb8ca8b0b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a292ca8-9781-4076-9fa7-f295dad300cd phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a02451f1-5cbe-480f-9266-a821bece40c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90170d90-1a94-4d0a-9889-8e90c000be42 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cb92a9f-9494-466e-ac09-e9725566f1ad phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb6ed40d-0a03-4cef-9051-3c9bf7715891 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec57542a-fe27-44b7-8679-55fa323a138b phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11844154-5614-4a07-bcf6-5c511d088c81 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53438594-fcd3-4913-b1af-b96fc986b6d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9b5362d-aa64-4cfb-bd4a-3829e3d314f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c503e3d-6db5-4de5-a483-6342d1ecaebd phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24c6dab1-4ba3-4349-9bef-366124490115 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3770fe2-0efe-4da2-b023-481f847a9abd phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:607b4d34-e201-48ed-80fc-fc973a873360 phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4ca109a0-c95d-4b23-ab26-28a6ae659e1b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2fb42d29-78d2-47b6-a620-a2047d5a0bcf phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3a54e127-439b-4c37-abd4-57c0e67235af phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:59963f14-7ec3-46aa-8b0a-90c3d0f62e1d phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bd52cf47-7118-4eb8-92b6-125d2c66c214 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ff846f3-3a3f-451e-a5fd-20db6fe3d845 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:584a3178-b70d-4c2c-ba2a-bb52392c543c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b6343252-c34b-45d9-8e76-951f6d95d8b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9f4b9540-0f09-4421-aaff-ddaf1ed65765 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:04e20dfe-a69d-4aee-8bc4-af028dafb320 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb0ccae9-633d-45c7-b7d2-b6467aa3d600 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76910537-89a7-42a3-bc1d-c27cb14af38b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b6d47b8-9feb-4ab0-b249-a7a3490006f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:41f8ef4a-aaa5-49af-96aa-bf141feac8cf phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34064b0f-ca90-4045-81ff-8f0e9bb1b99a phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2e845ae-dc8b-41eb-9182-d02996deff20 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:96bfe81b-107a-4293-b57b-cc336f08f9d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ec4d25e-ce46-49f4-969a-350d7ba8d368 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2cc62d0a-1039-49f2-aeef-166fb5093984 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4560333a-4965-4f69-85f7-4edb280e910c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fac38eaa-259c-4f23-9879-252a90898e21 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f089bf5c-9acf-47c3-985f-012b8d884a4b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a74cbebf-d105-4463-b996-14e6503e7d05 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7e7277ee-f863-49a9-a2cc-c994abb6768d phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1aa9d718-973e-4894-9852-c0441ffad032 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36f4f622-c936-4736-9bf2-0f3b8d46edd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c489f88-1102-49f4-bbf8-684e5d3df2fa phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5396658c-5964-4c4d-9058-d32f22362783 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb744c09-fbcd-4530-acb2-b2beb2016a04 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35ba2e38-d703-439e-bc01-e1c86d56e656 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cea60901-a0b9-4f8f-a4e1-50067b86ecf3 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5fcbac25-920d-48eb-9760-7dbff167e225 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:55ff3539-60b4-4f0e-b16d-abc07738805c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ef27c7f-0849-4c1a-9db5-d193e8b26a52 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:deb8d044-a8ee-4e79-8424-6b17800c81f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e71e13a6-6ed7-45e8-b638-ae4b9f78f574 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5164ac85-e753-4cb9-98b9-f3502f932dd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cab19c8-465d-474e-b570-1e02c9ff2b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92142178-9dd1-4f1b-bc7e-fb75b6178669 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba717a8d-cee6-4646-94bb-e8e362f9d743 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:98a91281-1480-4c53-9def-0dfe3d15acc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a7bd52f-14a6-4874-9c95-c0c7243ecdeb phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bece8436-8fa3-4fbb-a35a-1eb6c33fc639 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b7972106-fd88-4fd5-9b44-3a5a52d5fd8c phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1fb911b1-e974-4e81-a2c6-4a7e9bd1e593 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53561386-5555-4547-a6f6-9e2686b7345a phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66b91637-eee6-4b0b-95e2-dc5e285b9180 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16bbbb7b-2fcf-4f51-a581-1ef0e70077ab phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:02f5d50a-bbc7-430c-9b6c-b1ad5d453ae0 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ad383b49-fa5d-4e37-8945-3feedf596912 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92db4518-dccf-48a5-bfd6-f5a0cd285a1b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c25e3341-2560-4f06-87fd-a0236b26e780 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e4e6a88-a9cf-4244-9aa8-3ed797161e0f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c104cb61-ac16-4f84-8d97-d32e886be7b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bff774f-cd47-4109-b40e-aa09af2fd63b phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f9562c5d-f050-423f-9866-e6462ea289d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:867764ef-7423-4954-8750-aa7dfc9d735f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ceed7f2-4263-4ada-946a-c300b5e9cc19 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0da873ea-3d09-4854-8cb5-9cd9cfc52039 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff782037-0425-448d-99f5-98887e51e29f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a7c2765-166d-4417-b3fa-a84d0444b739 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a812f72a-d74e-40e8-9792-563fa1765986 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51d6fc35-363d-4180-97d0-f7ececfd5c31 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2810a79-cf6d-4805-a430-62defade768f phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d45b660-125a-404e-b51f-8c84f966a062 phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0c2ff071-3faa-46e5-b4d3-ff0ac6fe0798 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d6817882-55c4-4e7c-b4d0-59b4dd55e6a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e6033bc7-b292-4bf2-8f6d-31b18fabe30f phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b3fdba0a-5d96-440f-ac26-48419a97d488 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c531bb7c-5a99-4c71-97c3-163b77d35bbb phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:482e5731-e08d-468e-9417-f8132c8b1713 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a127fba8-3548-4001-81ce-d5146cf8e0b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fc473aa3-fcac-4f0e-baaa-a5e6ee95049e phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61e33164-b0db-4596-a116-f32ed350fc11 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3d3b286-94b6-4ce9-978a-257bb1e04b07 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:291f86f2-f9cf-4a2c-a2f3-1ff08e5f4e03 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:baa52b01-2280-4371-8849-c8a57e379bed phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a83d5a4-0575-4611-acbf-6f24eb42322b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8946e530-5d65-4f6c-8409-ce88968f372b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ab0d00e-6f36-4ebe-9613-fbaad0479197 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:02e79da8-e1a6-40c1-aeba-b61cfc2cef7c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c6ae583e-2a7e-4e92-af9c-01f4fba37925 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a6ac6afd-0f8d-4d9c-8788-ab2013020d15 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a5b0724b-95e6-49fe-95f2-394fc779efcf phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eb25f29-5ef2-424b-ac2b-7bb4875ea241 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:164765f8-f434-43ba-9426-3864980cee48 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c1a58dd-4306-40ad-8808-562bf3d3715e phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:14ab0150-a7a0-4cbf-93d4-a79275d0b1a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4d58382-d7cd-4dab-ada1-fd244c0fd498 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c630eb8f-ec8e-46e0-a12b-b55872da994c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd2f3312-5571-4883-920c-6fd574d9f9d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f23aa87-3a9b-46b0-8228-e2724a26e74c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:06cb9a38-75fb-4426-9496-bbb24cfe8ed1 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b327b8a-f3c0-4671-af11-560545c780a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:660bfd9d-3496-4d7c-9a5f-775d6a391f71 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45bc7330-9d6a-440a-96b0-a2136559380b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eacdc80-b494-4dd9-bee8-d36fb5dcb51b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60b79ced-a5d1-4292-a059-3c1fcfcec345 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16085158-755c-4742-b2d9-ddb224718633 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8828547b-72b4-401f-8cc0-379fe5eeb7ff phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34e055cf-c7cd-4e1d-b215-e0cb955a0d3d phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da33add1-081d-469b-989d-18497351e733 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cfe0164-fb56-48af-8454-8dc21c6ca75e phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7e6a05d-63c4-43a4-930e-da725bd5a546 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60832d95-3e79-43c3-8f0c-36975a52b1a8 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39ddd373-064e-4435-b2b7-fbd8aa0f570d phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ede1a82a-e0c9-4452-a8e2-a51a8e7eb3a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34505e21-172c-409e-96f3-8f7761498cca phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1f49d0f-f8a4-4498-9b98-f8a1a8016ef4 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ad6d71d-ad85-4b9f-bac5-b416d35e39ea phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1581595a-ff3f-486f-a9c5-63929b79d199 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d096a17-8ed2-4bad-827e-a3ea64306f9a phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4aef039-9ad1-4c20-9b59-aff7fa3b7d9f phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:865db513-2ca0-44e6-b471-59072ea83b33 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:74a6d763-7402-4184-ab47-3710ef799395 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17c7cc2e-9a91-4701-92bc-1b8d450170dd phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1fe2e2f9-b500-4971-b2c6-1044c425f5ca phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43fcfa15-5ab9-465f-860c-8f1b8405586c phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b6992b8e-9536-4fc7-a73d-84056a69a04a phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71cc2b3f-eecf-469f-8c17-b79439245a30 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d545779-18cd-4b92-9d61-1e02b42aa58a phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a491c00-20bf-4b15-b92f-ff6f943578e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c0701f0-3698-45cf-bdb4-d1279a0d9397 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a36a09ff-39d2-4e2f-a581-482763478f02 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ba600da-ef30-4162-85e3-f57676f38471 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:981156ce-bfa5-4331-95f3-a01d81c364af phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5491c2c4-3aa0-4b9c-8b0f-795fe95db45b phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f01109d-ff42-4953-99b1-68465259c135 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc52c1ab-fbe4-42de-976f-26ac7a31f8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:8c8044f6-057c-4f45-a3e3-24d2f035bb7d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c3862b8-5cfe-4eb5-893e-d1339ba9cea2 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7448a54d-510e-4bc7-85d9-953da780ba0d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eabe1cbb-e276-41da-82a8-ebcb1190e59a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:edc62dd8-d92a-4aca-92fe-4ad3b00c6889 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a975941-84db-425e-9180-a04dd318967d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1411bb82-cc63-40e4-bb59-f85a0b46bc8d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cbf80722-6f61-467b-954c-a1c68299c263 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f1f4a69c-c99f-43ea-9f55-5eb2b394ffd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:da038db5-17b7-45ce-906c-61196f3f888c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4741aa52-162b-4633-97f5-87ef48c3d6e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b4c9764c-f997-409d-9086-e3e819d9fd10 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:51e47659-21e3-4da4-9253-1a7b2495f00e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2ef3a1de-9b5a-409e-9883-522c114219a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c7d60e7-2d28-4307-b0c2-892333f0a56a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:64549765-f714-45b3-aed9-3372095c0817 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:448df14a-7cff-4a92-9676-b676182066dc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2d858cf7-ef57-4fe7-b0da-7f18dc181d81 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb4c1c4f-a5a8-48e0-bca0-7ccd23cf2713 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34f9b3b9-c5a3-4493-8e6b-f360aaebbde7 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89d3aea4-017a-466e-bcdb-50bc981b70bc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4caadc8c-da7d-4533-9d2a-2046cc152054 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:614a11ac-cc90-4a60-90cc-fbb7f27d6033 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5113607b-03b7-4bcf-a649-ae8e5a7799fa phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:995c8e40-ed6a-4dbf-82ec-34e0f53ed2dc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:13e17975-0e89-4e9f-a6ce-4cda40769212 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a8ebd56-9389-47a4-9f59-511eb531266a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:596b2fe4-6395-4620-b971-41713e38b866 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1c92169-5e48-4b71-9464-b834f095e84c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16bb6dde-8abc-490d-bda0-48b4b3a57b9c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a2c5d7b-e20a-49d4-bc55-441f224b4d4c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:829c4caa-43a7-4169-9831-f6ae136fe723 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:621fe1b9-f161-4c14-a2a4-7955b7eeebf1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063d7e7f-fd9e-4d36-bd11-b8646dd076a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:712d9365-21dd-419e-8f0e-c023b95e5cfc phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c64e24e-6535-40e7-b43f-8e6c8d359d61 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c758f7a-ec35-414f-89f6-350226e1a2d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:069dffe2-bfdc-444a-a4f7-f6eacee4cad1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05c48981-8dc6-411a-90f1-834121024b18 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b1220c70-e367-4acb-bacb-ceec86b95125 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32d5d20d-a2ad-4b89-a58a-055e1de66b6e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b4008602-3595-4c0f-9a02-adfad4391e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58364228-d7ab-4a23-a502-04c629eca4d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1b979fb0-14c3-4490-bef4-af35598b25c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3567dd3f-041d-448e-9b4e-79e207b48fd1 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10be78a5-5d7c-4ad3-aece-d066411011ae phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03c23cd7-cb58-4ba6-87e0-c61d40236100 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbd9b957-5d1f-448e-94a0-e9818a9df4c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e5ec7c21-e30c-4cdf-a5ff-273913aaac6c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a21b937b-4003-44eb-bbda-873bb3c1ec13 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0726554-4833-4e23-8db2-994f988c665a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70eff7c7-1da7-4303-bfe8-5b8b806d4473 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d795b235-a4d9-468f-b149-84c1694e742a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64ff5cac-b062-4f18-817c-660b52dc413d phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd2ea300-d366-4c44-89c1-6e8a301845ef phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7cd48333-03bf-4c8f-84f2-4a8088acff34 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23e3364d-b682-4d5f-a5d1-dfac23a64f0c phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:529f0082-999f-4268-afc9-4b1b7e08506e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53e0f91b-27ae-4283-b7b2-86582fc3525a phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df8b47b9-92e3-4e6a-af5a-a6cf84af9613 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba1a54d5-6215-430d-8ff8-e8d4e9e2db6e phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1cb5a6e-84d1-4e96-9a4a-940a84e3f8f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b36962fd-717f-4d16-b5ea-8979552a9c57 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c8f84e6-7add-4384-9404-c1b179f9e1d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a9dcfd9e-2bbb-4d39-96ae-f5f5b77ae007 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f4b67c7c-9f0e-4b8c-9ce6-9855d02a1422 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89c4c2ea-c773-4845-a424-f75cae84e4e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:40f0f42e-84dd-4c44-8a9d-4a6f50e58887 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3d2552d-609b-4351-adea-00464a8c0fe2 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4dba5f0-b583-4003-adff-9ad2db9cef72 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de2edafb-a6e4-497c-8211-55ae2864ea4d phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1c1c494-83ca-474a-b17b-fdae11a33eae phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e43faada-c4e7-4d84-81f2-e3616eaa8fc0 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:53595dc3-37ed-4992-a4f0-d2c64d3a67c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e331dc2f-3d2c-42f0-b1b9-b8d25e67aa6c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8fa8f91b-e1c4-4c86-bfe2-c4f40c9bc63c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:de763f8e-aa89-4737-bac9-cb8547dcd478 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:43b6fee6-4de5-4857-86b4-e0c7e0e2f96e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ae79300a-d326-474c-a102-9ce9e71925e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bcae2ef-b46d-479c-a9c3-80de97f4f21f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d4fd9643-af28-4957-8088-677ef2d2fcc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:adcc4dcd-fb95-4686-98ea-ae1699f8211f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d3a57ff3-8887-4521-bd4e-5da7fc6a88f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c7842bc-69ae-49f8-b2c7-5c9869a5e8ca phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e86f7c3f-0157-40ee-b322-447a5dfc8d1a phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:954d76a4-ae50-4418-a984-82515b482e75 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f34560c5-a959-4a60-b6f6-d5d4acbfff46 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0e99e39b-5ee1-4849-a428-3401a0451d0f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e57054f-6724-42c4-9f04-24ae795b0310 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f226dde2-dce1-4848-b9a6-2954815bca91 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0421ee5-59c3-42b3-b4e4-7418c8db4192 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e838bc80-93ce-4c56-a485-90ecdc509368 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90ce704a-3a6b-4ea7-a68b-9623a06cf3d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0956c210-255b-46c4-b57d-b76ef45a61c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5bba4348-3044-4c72-8988-5de2e00db856 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78fbf062-e38e-44f3-9dd0-dceaffada7a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5894e675-245e-4b42-9372-aeb2eb272a66 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa553c9a-220f-4cde-aa3d-08ea8f19ae1e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b092470f-3f09-45a6-9ecd-5bac3cf8d2d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:028bf7c6-6ad9-4baa-a104-a0a11af3e40f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0646fc43-3e77-46a7-ad67-c117cc0c61c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee858287-b99b-4159-a3ea-622d1139c56f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec116a69-9740-4c9d-97db-effa3e402457 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42680d8a-f299-4eb2-a934-c0393b15b12e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:361c4e98-a6de-4d0f-ba90-d6524e061da8 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f5b11444-5305-421c-a033-a1f398998a82 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:61861626-c1c9-4ed8-aa19-310d3f0dc76c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:48c5d509-e035-45a2-bf0d-59c9d188660b phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc8e91ff-cca1-4399-9005-0c352e09b33a phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da6478a6-c50a-448e-9326-39e25546d9da phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e2c8554-599d-4959-bd54-5e523569616c phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:935b6e5f-ff6f-406b-b6a9-bf8e9a82110b phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ab67de9-2a0a-4e70-b842-ed03f0f09550 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1dd487c9-6772-4184-9d82-42c733f56520 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11cbdcd3-b4f8-421f-a10c-b80727033f7e phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2331318-cced-4d51-bde2-6521bfaafe89 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8db4c18-70cd-405d-b1de-feec6c0bf683 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f9573ff3-ab84-4b9c-b6d3-f168dfbc5e94 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e2edc07-216c-42b2-a2a2-38e023b3dc56 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb82f4f9-fe71-4ed3-af00-60cc713ce751 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8119697a-0eda-4378-b3a7-9dd1ba48914f phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d14d21aa-b64a-4596-ac35-db7e3ca94d28 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9fe42ef1-f549-4b28-b9ae-a1f343660ec9 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:417ca4d4-720f-4842-a6cb-f702b7d66bd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28bacd47-d7a0-4e77-98cf-a437f19a7f5d phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eede3d9-0922-4751-8fa6-f0062b18ee14 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fff06f42-2cd2-4d79-90c8-4b78ddbd7e15 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:116252c5-ae0f-4f01-ac31-b681bba51048 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36722d17-2e7d-405d-8d8e-813a2e8e2ce4 phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:917db7a4-7dea-4019-8389-99a83cd14d33 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e44574e-1d0a-4150-8d97-1b390cc898be phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a344d461-eb79-48f7-beca-65831ae00643 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:61f61bdb-9933-466e-803f-a64380433416 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0ca3b03d-7573-462e-abc0-9f03e6d46c58 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e9a1bf0f-8674-4255-bd56-2e5a34bbe5fd phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e1790bd-7075-405e-9235-9cba7eb24c1a phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:72fe7119-faff-46e5-8b05-89aca1b3c1f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:04a90a1d-01b8-496f-83e8-b2018d8d55ca phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03aef981-cae0-4b1f-826a-3d09e9c4b775 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c897dcd1-f4a5-4998-b293-b993e4f8539e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e936882-e1cc-401a-a8b0-bc822020f1e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:59d052d7-77a9-43cd-a0b7-cd0e699d1e75 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0d69ccad-ac6e-41c9-a191-20136b6e382d phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e72cc079-66ca-4546-8f51-fc937c15f8d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d0fe22e-d6af-4e46-a7f9-d0858cee89f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e5909c74-f365-4707-b0fe-5768fb33aa66 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2075420b-071b-47fb-847c-d4588068e298 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e816044-8654-448a-9237-8aed798f9306 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f633a3b7-f233-423f-b93f-0a9ff3a683a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:74573205-349a-4fa0-b248-938dbd454828 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a9601bc0-566b-4096-972e-24b5a23412c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fba6e3b4-b34d-4bc6-8219-185316d9ab16 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:07225dca-6cf3-40a0-a7c0-1574bcefa3bb phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c06257f-42d0-40b6-a8ad-16fcf2f16264 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:03740b14-7da7-4e8b-9631-0c5c694d2e91 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6f1a6caa-7381-4b77-97e8-a3d85ed59df3 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:13587deb-74e1-4ad6-9353-d56899679c66 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aaac127f-2e97-402e-a78e-85f01bdf11a6 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8c6ea85-5a7e-4dbc-865d-04b7fd343628 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:812a1dac-bb2a-4c94-88ec-b0079d112492 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2edfd275-0c3c-407e-ae0c-cabe252fb65d phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dea77dcb-08e7-4d37-882d-11a7e61c6af0 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58628f07-f108-4a52-9df0-cdc1b3c339e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23c68a7d-c235-427b-abdb-0c386fe96aff phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:10266d73-2e5a-40a9-955c-d4bd2c6378e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0dfce2f0-b625-4352-b7e8-e4c267235362 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f2a294b-23ce-4700-bc38-09081f80c4d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a5e1755-84b6-4bbd-b9f3-983556c63dcb phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:deeeb111-ad5d-4b0d-83d1-cbe232ec1451 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f9a3061-8dd2-4252-9486-764e9ac13c3d phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a1afb56-8c30-4687-8bba-060b7c3bf2f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8bb5ef2d-c942-4cf4-8d36-08738224345e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:49d6a72d-5e60-4e03-9790-38133551e356 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:668acfde-c227-4af0-857f-634cd454110e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54befa75-c39d-4b47-9561-613c73d0a2a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d6f8488-a666-4dac-b458-7232144e5cd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e76b7eb-2be4-4fd7-b407-cc79d6306317 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2b061ba-8679-4f5b-822b-71870ce8c907 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37e94f73-a846-4e77-b868-ee025c0f160c phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7d8727e8-5a12-44b9-8205-068926ccb36e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:756b7f05-aeec-4cd8-b15e-b7e7d3da2e04 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b0ce7040-f5b3-4018-ab7b-fa0286a4f19e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8188818-4a7d-4c5e-a9f6-d814794d5f1a phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:34467968-89ed-44a5-87cb-33c4f063b642 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7e0507e-2aab-4936-9172-2736ac29b5fa phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6897054c-af4a-45e7-baa9-68231b2a9376 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfd99d03-94ec-4a1d-8bf2-e78ed1213c52 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:859e88ee-4d66-4947-8625-6197a5d798fb phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb2594b1-51eb-4df9-942e-3146d70b471e phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce2fa1ec-38cf-4232-9ca6-29e837a43be5 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b354e4b0-5e85-4bde-9137-f244e33231f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:968c37eb-d85b-4844-80e0-f578feb345e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ea42ec2-b96b-428e-aa5b-68d359c18173 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec535fe7-aa2f-45d8-897c-958a3810a939 phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:0b7ad142-edb3-48d7-b050-b4e9d3e8b735 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc5d5c6c-1d64-4157-af1f-853d3565aa1e phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:981ceb9c-2c11-4e25-a118-83472664a4b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:74da53cd-f72f-404c-9985-b21d51b637c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4be77494-d938-4c6a-b895-6a179a90af7d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a261c38-feda-4db8-bd58-d810d207e22b phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f36e78d7-75a2-43ff-9847-85a3b23c3831 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:212ffebf-77f0-4e0b-8c54-f7a35bbd4fff phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:80dde44d-2fb8-4d56-ab92-b52943a7aba6 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:32cf6428-246c-40e5-a8d5-c60bd920c3de phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1709072c-101a-433c-bec9-de5045de6e32 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3ee5107c-6b6f-4862-8cf8-1689d69716dc phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5fa721be-58e8-4a47-9e8d-9a7fe3635e95 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8f6dbb8-ee5f-4428-91cf-d96810ab750d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f48cd58f-9aa7-4031-ae8f-2d3b9d16aecc phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24bb3239-6905-4e0d-a6ed-af9c2ef78aa9 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee42ba4d-3c39-4f01-b961-bd7c27336f63 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bf60208-36f9-4d98-8d5b-ff0213a22cc5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9eccad39-3b18-451e-96dc-d341254cea25 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05cf02c5-46e8-428f-8ec5-93c8a16bdfd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bbc4a0d-c53b-47f6-9a53-40828f6de679 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96f6f505-ef8d-4536-a261-564c0f3eac72 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cba94f62-6964-4ac9-8b51-b03d91ef26d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a1e9a1b8-0241-46b8-9c86-f2cb65cab8a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d93d5078-fee3-4e25-9159-1f3fa9cb6bc7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:841159ad-6442-4270-97ab-e9320c7feb1c phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:688324bd-e6d7-42a8-9222-9bf24df861da phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1593bb84-9412-4877-b3e0-925e65ac5498 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c279b62-67f3-4c9c-a1f3-f42cdfb72162 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d621f98b-7e08-428d-b2d3-945977b514a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e289d693-eb0a-48fe-8360-9f2d0720a94a phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3af4051e-c4cb-4625-afaa-1484ec498b29 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63f9b76f-de71-4f7e-93e4-054d23f0192f phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e0d3bb8-f36f-40f9-b362-4304bbccf598 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c98866bd-a354-49d7-9c1e-a67494ca070a phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a927610a-ebe4-4bb0-b8e5-8172896c6464 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ebd4218-e779-4fdb-85a6-d7e954346abe phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5fe8bc4f-291f-4acd-8417-4a9c0e3011fc phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b68bf1a-c40a-4c54-84a0-4d147ffbf494 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70274a76-bfe8-425e-9ec9-9e67076135e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cad7da0c-db03-4a9a-b27c-d12bf578b72b phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95f233e7-7b8a-4504-a198-a4ab4b5aefaa phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b2895c9-29a5-4deb-909d-050bbd35ca8e phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30f7b224-6f8a-42c4-9d75-271a361a432d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dddc1f7c-3952-481f-a755-b3a9bad70629 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:891faeec-90de-4812-a870-986147dbce34 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cbc1a39e-6a13-4af8-a994-b1f0ec3e2b08 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f664fd0-f389-4087-a907-f08986d90d84 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c53943a-d3c9-469c-82f2-8c814b7efa75 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:baff6d18-3ce8-465b-9678-2c040af48094 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47b97385-97f5-4fca-820b-30623fe31654 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d288134a-7a7d-412d-9fb7-e08de7f9e713 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f417f18-f92b-4ea9-a4e2-5f15409703ea phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:37453ee3-9627-4915-b8a4-ab2a184927d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9162b9da-4f69-48b5-99f9-b540a568fea5 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2738877e-e2cd-4d85-886f-fb7944119aa8 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9343da5-2915-4490-b0de-ed3a644bd501 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bbddca1-ca72-4948-a94d-d74ddc070616 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:11304f1b-e3f3-49ad-9d0e-c637231f1f88 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:93b943a4-aac7-4cb4-8ccf-d4f2aac9e33f phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9721a162-7d86-4059-af94-563b613e400d phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f91bd8ce-3a86-4a7c-a1a0-9666a12bcc45 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:964f436e-2ba7-4b87-99da-ba4e4d5ef9f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3855b65c-1d82-4c26-8c67-60c61aec6e26 phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5052be59-4911-4a41-a75b-cf4e8ec306fb phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ea18ff80-3fc5-46bc-90b3-297589901357 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47d18aad-f362-49fb-bb4f-9624e917a57d phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:09cb4c63-5acd-4daf-a9e1-a453639759ae phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4e6f95a7-5185-483b-b547-ec13131893b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:592456e0-113c-4493-bccf-3bb9f158d0df phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83b602bd-222e-435c-a853-e1a0f7998531 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:57211d22-883e-46d2-aece-76105b9d75c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2e49694a-1cd3-4fed-b32d-d9c3530a01f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dc3832c8-e6d7-43de-aaea-208368153d66 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a908d671-91a7-45b4-a6f6-0d1339c009bc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3a2f6647-dca0-4612-8e9b-0a503651d705 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:42745463-d095-4f0b-891a-d39850d53d25 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:31bebed8-0209-4c1e-9ea8-7c9378b30c21 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:065f9cf6-cb59-4135-8998-33aed679d5ba phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4f3919e-f439-4ec7-8340-6cc41fd33fc9 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78b3d095-853f-4ec1-ac40-920d9d1d0afc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ec607b7-00a4-45f2-9b8a-ddb63607aa90 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5e5dac4-3550-4ed3-b030-e56be899c1c0 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dca7ab16-cf9b-453b-9177-22fcccac93df phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c056f80-99a7-4767-8294-6098b28e947c phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1393c87e-0c85-407f-8fda-4e0c232b93e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e8931e4-29b3-4a3f-ae2c-f0e116e2f176 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70a318a5-cbde-43f1-b08f-68408762bb59 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5a2d1880-749b-40a1-ad0a-03968330d89f phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:985b5fb3-fe9a-4ae6-accc-dbcaf0dc1fc8 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3d1e19d-ab0b-4d4d-9e32-0bbf4790cc8e phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:66efc7f8-92d8-4297-82c2-2e1e06129fd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f181be4-7789-4038-83df-5bb64bb72029 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd6f47b8-fea7-4604-92e3-2e7c4d915e72 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:797d903c-2422-4a07-a7c4-362253cdf9cc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05bcbe27-3405-45eb-9926-fab969aedf3a phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f49ca821-7b88-4031-a42a-950927ff8afe phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85782552-8b6e-4f36-b0f4-3b5ebe10aeee phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72118644-90e6-47de-aa24-3c8da0c04309 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c69f1b59-8869-4273-9e2e-020f0c8c2819 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:721b07fa-138c-4fc4-bfa4-759d2eb133b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab4d57a8-8485-4e47-bc80-67ed47bbb2f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4693e7c-85dc-4d18-8f9a-5813e8fe2339 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89e2a3d6-c7f7-41bd-a259-9134262cabed phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e784336a-526f-420a-94d6-3132497d0364 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7084b39a-c80e-4a81-83d3-717b675a8549 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b100c798-e236-4158-a461-aa365414f908 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:380b48be-4340-4746-a489-a8d28830b3d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f98fe7-d007-4c01-b3bb-14eab02c20b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:344ae5ea-a3e7-40c2-a121-6464fc87aa4e phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df0f4bdc-20ef-4ab6-9aa8-df3331dbe033 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:394b645a-bf59-4e70-b693-54ac21a68a09 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81b5b9a1-e70d-4c45-bd77-c99b1ed8d926 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:95fe9b48-ce16-4e67-897e-e7500aca3f42 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:224e25b1-49b5-46e6-ba46-26d0d27899d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e1e95a84-29f3-430d-9271-016df5f99ea8 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:280817be-e5e9-4b7c-9008-ce70ae6d0009 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:50f0656b-578b-485b-a002-d2c693c59b60 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2e2f469-66e9-4800-a4c9-79b7f5f9ed87 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57ce19d2-71e5-4f1e-b7b0-90adf8aacb5d phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063944b3-ab32-4c6b-9194-f3c7caa84c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:173c8e14-93b0-40f8-b3db-11a3626956d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee18fc1b-000a-4047-b276-98d8de4ebdfd phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8acd2ff7-560a-4729-999c-4a2ff59a09d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ff70de2-c954-4db6-83c0-5519ef959e68 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45b80ec6-9037-463e-856a-54c78af16c1b phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6864d015-cc89-4305-b6f3-d1ff9c8df332 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a261686-0b1c-48f5-b10c-f982b497ebdc phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b153c32-0f2c-473b-b15b-4b13bb120cd0 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e9fb3b28-7470-4d4f-bf24-2759aee88374 phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:9895ba69-c705-4add-909a-f24018c445c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ed1728b0-6ecd-42f3-bf88-f3b84c7e7fd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:22b5faae-d166-4b2a-8d5c-d28616efb0cc phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:408fc1a9-7a86-4448-9384-dbdb3c024e0c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1dc7a226-b035-4114-a1f6-ce3596fd9220 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5a80ad44-ba30-42b5-80c4-2f533a6e169d phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54204316-4d85-4f2a-b94d-e49a79b26e57 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:605aa7c1-e79c-4d07-b813-f3d6b26d9c43 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d5d2868d-419d-4e20-9814-1775eaddeeda phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8b61bf3-48eb-46ce-9660-ec840d87ff5d phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ccbcede-f6d2-403f-ae39-38151cb2f3cc phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:660b00ac-51a6-4825-9b9d-29cb92a9a6c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5940dd7f-c443-4c2b-b709-36d280200e31 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0bc0f418-ca99-482e-89a8-c866711c7abc phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a2cbee4-6635-4fc6-9823-717f33d0e31e phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cc25481-f3ce-413d-af59-a55532dd2f80 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1a94f599-2292-4dde-8ca7-306692413ad7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1226aab8-2a45-416a-9b31-f52190e5adf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82d66a0d-aaad-42ef-b170-b16512f63c97 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2cc6fd95-c7e2-47c7-862a-793197f2c0b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2b5bed0-67d5-4ba0-ad66-6440255693c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97b964e7-dbe6-4410-9f65-5ffbbda5f36c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e53b2155-88f7-4323-bff7-09976e335204 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5667529-80c3-446e-823d-639705b3fd23 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d2cdbf6b-c901-4c8a-be66-1b7f3e0d3f53 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71c68491-6017-4eee-8792-57fdc74f844c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c8b912c-4038-4843-81eb-ab755d82b535 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:46133854-6d22-442b-87be-5d45db6ac110 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6e01dd18-3d01-4301-8f28-dfae2d7b0836 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c083553-c0c8-4b37-afc6-94f7af3cca64 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90160b37-7281-429d-b920-cda63bdf8505 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86c8bf26-980f-417f-aeb1-700aa7949071 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2b6b5773-4974-4618-8a67-df9b4d02642b phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd1e8d35-b9b5-4117-a5f9-8d03931143ef phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9c22e86-4434-4f97-a5d7-9e979126cff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2f4a4959-9d19-4181-9ecb-cc47a09e521d phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b3130f9a-d726-4d94-8003-9e58e39e9efe phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:97c249cc-856d-4536-85d2-dc660c53e9d1 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:990b1318-900f-495c-a6b4-f6a724a7b9e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f4faf8f-f144-4990-b621-2b60264bed67 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f7c4c5f7-2266-4412-895e-e1c767a55058 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbc2210e-98c3-48ed-9758-6f400d629d80 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:67f8ff87-378f-427c-82a6-7888fd0d6fbe phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:282ee40a-ef64-4d72-b295-96ad65e61a81 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b83f7a5c-1082-4235-a193-e05e8ff5cc5a phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f21c77c-075a-42f8-ad6c-a6fd83413c28 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:879a9ff6-6dcc-4097-b03a-c9cf2b192392 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4280caa1-666e-4648-8912-5269c7adbe66 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7787f4cf-4df6-438d-90a5-f67405573ecd phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:39695cab-8cad-4177-b6c2-a17921d3b35a phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c581ebf6-abd4-46ec-9d57-da47a55e8c23 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:baeacea2-5938-4e3a-b6a6-3839785bddbe phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6139e38d-d1bb-4eb9-8d60-d0f7f14b41cb phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5ffca39a-1dd8-494e-85f6-f93cec51035b phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19bdeca9-76b5-45e1-9b34-4ff6d7046251 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d36ec482-ab1a-4698-b8d9-a5b3b4c09de1 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fd91920-e030-4fb6-9c3b-a749b667ff2e phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d48a5928-01b7-4234-b64c-75e42551b60e phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b738ed3c-7463-4400-ba93-8021276e1b85 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3fdeb3ba-5322-4e6f-95f2-a5622ac64665 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:566cfecd-b740-4284-8902-312b5a0c2019 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:16aabcfe-239d-4e83-9705-eac0327b52e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0d7a628-a549-4482-9fd8-709de0b4e0b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1195192b-ca71-4c37-813d-cbb73a4c716c phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:988ba870-9ab3-4fc4-8291-e532ba22e5d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:45a1bfdf-9e8d-49c4-9b6d-f440091e3bee phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1d847fcf-6b8c-44b8-8ca7-65e8a97e9ec9 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3143ce96-22fe-4224-b1f8-6005e10d112f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:65ea36ce-6752-46e4-81fe-3c74d9476daf phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:da58a573-7a79-411f-9743-8d43936f1433 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6d381f0a-01e0-4422-aefd-d7b915c99210 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3d0ecb9f-d00e-4b8a-849f-9454503f1472 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12096fa8-c591-4781-ad85-90d4cb870e90 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:283e5913-8b5f-4e3d-a462-31a526025196 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c16e270e-252a-452c-81b6-9dea32a4b30f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3d517ddc-7626-4759-9bb6-f623ca0ed444 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4cc9e64e-31a0-472c-a140-3c23b2d22c22 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9015b625-a9b4-4b4c-95f6-ce324f60ebd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:792922e8-1e29-41f3-9911-6e31f0e1e611 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5164a8a-f785-4bb1-84e7-b2173a911f3f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7f88e280-0095-4e65-b91e-b9eec240ccfb phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ba2b07c5-b4cc-4dc0-918d-c06b441fba80 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:57ce6d28-3a59-425c-b42b-04ec5960eb72 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:673c78b7-0b5c-4165-8f6a-178b8197e6af phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f0152f3-dfd8-4926-991f-c26a8d169f7c phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:df93c47e-6515-4be3-9295-b2bd88770eef phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeac3d8f-8312-4a82-84e0-6281d8ded23b phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c793a9f6-2a49-4ed2-9b2d-89f5701b19ce phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfc64d82-23f6-4eb2-b002-611e9dde79b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83185dd6-3a0b-463c-8c60-6204961c9bec phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08dbcca6-4230-42d7-8877-3d3da2dfe0e0 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86ef8ba9-0df8-4747-9fa7-884400935194 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:72c13d12-a489-403b-8420-cbda71354694 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3be68611-997c-4c52-8ac9-21c99926ed7b phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d0be2fa-c465-4bd8-a8aa-26490c3a46e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2191687e-57a0-4f45-969a-87af9dba13a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f2c40cb-3a53-4bbd-a961-853172528622 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d56390b6-9d59-4d0b-a8c8-93695d9e30fc phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a16b7e4-3914-4bdb-bffe-e75740720947 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd6c828f-6af4-41f6-a571-84671ed8f0ab phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:063ee589-f0fa-477c-9833-e7c181afe8b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3a204bb0-3c85-4fa2-bd10-f07308a00c47 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd1dd4eb-60b7-432a-a488-092456ac36ec phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af984fbc-8637-4e6d-9127-575865cc8271 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54d5b01a-1b14-4551-abab-81e168deb1da phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:adebc110-5875-4381-8a93-abf48d2196d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26425f3e-f682-458d-b4d2-8b58e89efc16 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:045a6b7d-9d3c-4f09-99ac-bce1320b6582 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05834cb0-37cd-451e-8c1e-72afc53ef3f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2239266-ddd1-423a-8d1c-2cc8cfbba14d phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86ce2e2c-dfc8-4963-ba23-575d45a25a46 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:238f8b76-a300-4c09-b05c-217020131aec phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63995ae7-d5f0-4c18-babe-5ef1ca72746d phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc301dd2-28e6-4c42-9abf-7409a3c98e74 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fa36b373-a217-4c93-8922-ee726914f2cc phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2fc5b117-6565-42ac-b309-a740a6818d5f phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ce2f0ddf-d2c3-4906-96df-e89e483207f6 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:805707a5-9a49-4b79-af40-3aa8db198191 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e8497fb-4268-4555-b354-ef9832a985b5 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3ecb3094-5fd9-4535-9b0a-1d088a31dc76 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c7654232-ffe0-4c7f-a474-c10877a2d9d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e881f884-aee5-4805-b86b-8cc06bba1988 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fffb688-d27a-4ee6-99d8-dfbb8c92c015 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a65379f-d4e0-4a31-8440-3dbfb8c0528b phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ceb80a4-b015-4760-b971-eb8b16a4d388 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b5c3a5e8-7e15-42e7-8543-71d22b0e1d21 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5f3331f7-912f-4b19-bf1a-e5280eb8f4b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a6ce3a9-262e-464e-bcf8-bcdea7001131 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dac15e0b-474c-4e27-84e6-d227c7769219 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:075837a0-1b3a-4d6d-abb2-844d3273fbd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:a356441c-e0d4-4eaf-b378-c0fe2a286b24 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d84bfc3f-f04f-446c-85ff-4b997e361352 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:efcea65a-ebe9-4b0a-b8dd-0ef5a430ec30 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47932b61-8112-4b1b-87ba-f91dd4807b77 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:66316154-57b8-4c2b-a959-96745bb70052 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:66ac2fb8-a587-4af0-9c3b-9c7b6f613f09 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e74fb9ae-b13a-4445-a069-4de1c0d7966e phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9711c0a7-dc32-4b56-be83-bccad0f0593b phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a15d784e-6e2c-4be9-8a1d-344c81af2463 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:365ee06d-1ae5-4883-a3a4-d31fedb2eaf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7daefb6b-02a6-4792-acba-cdcc229d5975 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aaa433a5-b5e9-4f3e-a2d0-bd9e5622b498 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:72ab1c34-c510-4ba9-8317-d443b4758a0c phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:307f6b36-c735-437b-9956-ecac46c6e598 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:77811cbb-9562-4371-9963-e8c8deab5892 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6e36314f-54b9-4215-897f-d798567d5726 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29bff483-ad99-4694-9a1b-64c8b3062283 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf5d1428-b3ba-4552-92ad-e4567516388b phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a86482a-c5ee-48e2-84ac-3e1f20fbb4a5 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bd97e82f-a567-417d-8d00-36bc421e0d0a phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:07b480ba-8fb2-4cd4-b417-31b2f4aaf806 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e1481720-bdae-482d-8db4-c0304efa8d43 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6de3ae81-ed11-4668-8a48-a44e07578143 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6a07d79c-9a47-481f-9bcf-5c3b34e8f54e phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:32250ec9-3c2f-4ac1-acf4-746f4a1f1478 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c931bd5f-6158-4ac2-bbfa-783456028986 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ab9e1c87-d80f-4843-96d4-88e4a33c9fed phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:566b6101-df04-48a6-851c-3c1942b5383f phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b80d12ec-2dac-4e7f-a3f7-fc16b8d2bb5b phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:db3d2b78-97f0-4aa7-996f-9654a1c9018c phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bacb39d5-f466-4e42-8979-392c30976df5 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bbccfa0-44be-4c83-9142-385706847046 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:22f05632-2878-4dae-97f1-8f83520baac2 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:203cc9e4-4894-4a16-b6e1-3aa518653e16 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52873de0-ac1b-4ee1-b123-cc75dbfb8e2c phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f1237060-867b-4577-9c55-928ca3feb373 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5faf3d5d-0142-4660-a415-de2e1061b3ad phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6cb2941f-51d8-48cd-8714-101d0f44125a phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47525e05-a121-4b26-a137-0509e816da69 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bbda31b7-cee7-4aa8-9b45-3b85c0bbed29 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7fa999fc-6096-4494-9317-e4438fd8b344 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d47ed67-7dc9-4589-9915-29338aa1618f phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0d5e2a39-22d6-4231-8d42-5a6fc1698e45 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:774ab150-aa4b-46f3-ad57-c4585e825c48 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:57589d70-e3df-473a-b244-3417994a717a phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:290b0b95-6ecb-46b3-b7df-ed14c7c4a43d phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b1376b5-fb04-45f5-b378-83ffca5e7ce9 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d640e43c-76da-40e0-ad18-665c0e30ac71 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c88991e-ea3b-4f99-8aa1-0cef8ebe4a90 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c245215-cabc-4f0d-a466-2a72eace0157 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6bc236f9-2e9a-49c1-ab29-369880a09160 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4842d5f8-4694-4803-9af8-f2f597483420 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:87f6879d-0069-4b51-a58b-bfc15de38a80 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7b042f97-0c80-45a7-8499-623a99836b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e0dad56f-0e35-4a65-913d-c6c607e89697 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e974356-c8a6-4b51-ae07-0d85540d3b21 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:209141ba-005c-4acd-9efc-d8f9e4c1cde9 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c8fb6ea-5c3b-46a4-b8e6-118d2190469d phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:195f1d60-12b6-46c9-bdd4-6d3b053b0c44 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:29cd67cd-38f5-406e-bb40-08da0d41e115 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54db406c-b26a-4910-ad71-2983dcc71530 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f2db22a9-c279-4705-9511-f356873ebeb5 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:092367a5-f214-49c4-9abd-e46f2df12627 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cfc01ab4-dc65-406c-9a8d-b60fb8635fe4 phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ff4f65e0-c526-45d3-867c-f56aca76148d phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:8e0a6899-6e89-4f69-9e65-637c29e76e10 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:85d9409d-6208-4a3f-ad94-d3cae51ce1f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f785c56b-f3f5-4cbd-8404-724f8dcf2051 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:98cfcef3-1f6d-4160-8d97-62ea21432ec8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a53a9a6c-e1b7-4a52-989c-2002dcbde23c phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a29103b-bd82-47c4-a85c-ff36c1617ba2 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:62d664d5-7bcf-423d-8bed-d6194f2ea2bb phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:14d68f09-8fb8-4158-bab6-66082a416b8f phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:06d4e833-e115-4ffc-861d-f88c9e28cbab phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4b65209-6da7-4bdd-ab93-87e7972d3a48 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6de8ddcc-9951-469c-8266-39236cfb5bc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c2589696-6d54-4e27-8750-67672b16ba71 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f22b6716-3cfa-4756-b4be-0ca734718dcf phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:bb04f21e-915c-41f0-9503-4d4d7417304e phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1fbddb66-7400-41c1-ab03-6c7bd5b9ac73 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7a99a72d-e287-4bce-b80e-9ef522e119a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c7ab1709-ff47-429e-890b-d3ad34bfd470 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:262c6cca-e1b7-4f4d-8a87-2c93937d5fd8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b133dd87-4780-41f5-9add-087650e7fb66 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fbaaddb2-19fe-4f08-a384-f498b4acf506 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e7896c0a-1ba8-403c-82f7-02265e2c9fd2 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e4bbcc89-92d8-46c4-a00f-a2d0f65d54f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f158d75d-614b-45aa-b7e0-2d1180d7edb1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f2b9919e-130b-4cf5-9fab-77c07cf54b23 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:237c5a4f-5487-4821-8eb4-26ac1c91abce phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0444acd-1460-4aa8-a9c9-7c2d62a408e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0a44a1fa-a36d-4c94-b8fa-d01bbd84d1b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfe2652f-995e-4f30-a97f-5b392eea8316 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69a57458-7d3d-457a-88cc-15d40783d9e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58016653-617b-4ee5-8637-226485c82c7d phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:602a85b3-535d-4054-971c-c36123e03799 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4db52ba2-65ce-4895-9750-6e43ff62fbdc phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1bd82ef1-e89b-4011-94cc-0a137316ce80 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2f21daf-f227-4748-b2c5-9411a9d19cb9 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d94bbc3a-52d5-4ee1-86f1-e1ec87d656d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:322940ab-ca96-4b9a-91cf-9699992523a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc5b01f5-e154-4f39-beff-e44bda2c6346 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bf070912-01a4-41ce-a34c-0fdc48965f1e phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ee9fa61a-ccec-4349-b3a7-7b9203f823c8 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7ca690ae-c9e5-4e74-bc25-89b9e900608b phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afba248e-1e51-4174-bd5d-ef45e31845dc phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4d455e4-b310-4c8d-bd08-c0fc1bc27b0b phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7be96a32-a6d4-4f4f-9318-7a2297195407 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:85cf9be3-0ca2-47de-8ad1-0578dd2cdeae phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d06da7e8-9d57-491d-a372-4f767e4a94b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6aa7b036-9f9a-4756-90bc-9e977bf9904c phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eabf267e-b0c3-4e63-badb-c80482fec7e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:62d50a83-7e52-4258-9b32-5146d1707e6f phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:446c6e14-f7b1-493a-8add-192b05a3c1a7 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86ec0d6f-a40c-4ce3-888e-0ac077f7ae47 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2c63a1e4-819a-45c2-8405-31240d05cdc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8a5151ad-557a-416d-8fb8-b8b434e96ed2 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecbc1bf5-e80b-44fa-92a2-adf7ab20d24b phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6eedd22-3053-4ed6-bcaf-18d5652e9448 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:048b1b17-d436-4149-9fc9-1842b54956f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dc3b1b6b-2c35-4546-af4c-b369455d3e45 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fd2a21e4-d43c-4d78-8083-a1e050c39dcf phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:521510f9-0145-4383-ae3f-80536a841fa9 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6d84460a-1ee2-41e5-81ac-8550c557b972 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2231de93-ec0b-435f-bf03-b940d47c6106 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9483b10e-2eb9-4558-a6d7-86b6ab1e2f42 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c9c0e78-dd19-4f30-b000-100abdd649f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0cb676ed-555a-47d6-a43e-02e4ec6afd5c phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d6736c2-5e61-423f-b22c-06560cb64d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d5418074-c386-4369-af7f-a1032925d807 phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:38a57f5c-85b8-4437-a6a9-7e32df60b368 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:249325f8-c516-4a52-98c8-45676ffa3adc phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f8b503ab-88a8-47ab-bf95-2f25f40d3b5f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c1352ce8-9a24-4e3d-b70c-6e20f91af7fa phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:804f61e0-310c-4f3b-bb8d-05db41a26db6 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0f2fe469-6a4f-409d-a80a-b4e871ec769b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:822ffbbf-e143-47ea-bc8e-22f705aac924 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:534880d6-3032-4bb1-a308-6e865bd47bf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:966b25b7-39b6-4c85-a653-43ca113e78f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e3e9f582-1844-4663-aadf-856acb4b370f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:582a24e4-774a-49d2-8a65-2cc9bdc7316c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c95e8130-7074-43be-ad55-8fde145e353b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:743d837c-1328-4a04-86df-1160cf31a166 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8accaf9f-084c-4557-a14b-a0833be55836 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7d35812a-d5cc-4654-b655-560f5bfd77f4 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a7ab3a0b-4f83-40e6-89b2-56e35377f3d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:247385de-82c9-41e8-a81e-c91f9b7f409a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5cdb1032-e55e-4474-881f-c5f827349789 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e82cc7c-3d9c-4fb8-bbbb-1a119ddee59d phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c207b2ea-9153-49dd-ab03-86fed9d7379a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05ad9c6d-f535-4e66-8d56-97b5f9105114 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19eef12c-ed06-4c0d-a524-9b214d0af5a9 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47acc1fb-cec1-4d28-a617-12346551fdf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:26ec48f9-5f4b-4121-ba79-69ad069f2010 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a49040bd-d1d7-491f-ad5d-3fd9165d2b7d phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1e795650-a47e-4cc5-b425-1e362deb9522 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:44541346-41ba-4b78-8406-ca5dcfad1f7c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:282581e6-ce33-478a-9102-042ccbe8db43 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:51ee5822-19f6-4379-9b42-3f0df2baa72a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92015c78-a438-497e-a81b-cdb062862a6e phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5d4ddc69-3361-4638-8340-fd90a21c21e1 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1f816940-26ae-470b-af0f-357e173933df phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efcb8596-2ec3-4855-8d19-b6adc8ef6337 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:19b34f44-31a3-4d5c-91a1-82ae63c2419a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cc464a7d-9f5a-411e-a441-4727f461a882 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5389c572-51a2-4832-ad84-a420eaccc164 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9db0c89a-75d3-4834-915e-5b879eafbbf0 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c3640882-0438-4731-bb73-11b28fa85858 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7591db9f-3d3c-46d0-b261-59ec16610387 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:604dad74-6d26-4ef7-a8a3-8c28204e310f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfc4361d-8def-49ea-bb4e-a0acf126f320 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78443f0b-48da-453f-8ded-907c0551bdfb phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15d79075-53d7-4aa9-b1e2-5336284c5053 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6b37ca1-5ea7-4bdc-b549-a53b65e371bf phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4812e6df-b650-48cc-b1b4-52b3a826379b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:96ac931c-ec9e-4836-8054-331003373e3b phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8efd622f-68a9-4ef9-afce-4b7b17eb7518 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9bf98319-061c-4013-bf04-28454c11ab9f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0629c812-c08e-45c5-976b-fc6b6c5000b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:24ca9269-c1c2-48cf-b189-8ce6e3c21d75 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f593ab8e-f72a-41ab-bab4-b2fd0e01aeb6 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:01b77658-9694-4380-883a-dd6975cb17b9 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:258d91f3-7bbb-4162-b45b-ded2cc7f710c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:44c30e96-4fad-4034-8046-b539c6e9bd11 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f50bdb53-99bf-4354-aa5f-c9f24d4b2d6d phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2ea711bf-a399-475f-9854-5b82decb744a phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b597c277-b069-43d9-ad07-ed3df9cfd7e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21d8d547-40df-4a9b-9915-bbf950e5621c phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:35e31db4-f1f5-4575-a7e9-297ced1faac1 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f925e8dc-9295-47c9-91a2-2bff77003cbc phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c17ef72-88c7-42ab-a823-3d1e0ec67617 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdf7bfd5-74fc-4f76-9a79-3e3a4f49660f phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99e8f355-030c-49e0-95e3-da1f56037b08 phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c3c745a-df77-4049-83e9-8fe3a0ae76ec phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:ea8f3418-6942-49ba-ae46-b8e9505db65f phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4d5ca457-0d4c-4842-81c1-b63c7d5cc8ab phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:defa5807-19ae-4125-9d1f-5e82d354b3a3 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:971b85b1-e838-49f2-965e-1c1dbe936f21 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ee38b5a2-c29d-484d-861a-0dad0f7ec04f phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d31913ba-9779-4ddc-a3c5-d7bd99ddeb16 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e075a083-c86f-4aa8-92b0-fb85e320f51a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:80eaa4a4-f89d-4e39-a2f5-be3435a66dc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1c03070b-9f86-4732-adbb-45ac24f20d0c phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76d87cce-cb9a-4ac0-aa5b-fef029f0a0f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4f080b51-2f12-4c33-9a15-3999f3fb2293 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:79a90dc2-6e24-4cf7-9366-e475739df2b1 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fd625721-ed84-4d71-a5d0-69d6bf23b02d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dea46ec7-813d-40c3-9080-5f33741c21e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:51d077bc-cdad-4047-9039-fd40c1a2b616 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:457796ad-ec77-4b45-90f7-b58422283118 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c5665649-456d-4541-b195-d4ee72f067bf phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f4777b48-d8a0-483a-b654-46c20f3d12b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:69559807-bc59-4265-acdc-db1a89a1b3c3 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f44e80fe-d3a1-4b1b-8c06-38d94accc649 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:60dce6ee-d9a9-4fa3-9219-820e9023adf8 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f01619e2-df43-4e72-80af-d2a0b64b2c52 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0988b1e5-bbe3-4c0d-bd1a-2d22ae51df80 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abc10126-d4e6-4fb6-9786-7197bd77692a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c791cf8f-57ed-4a65-87c7-e0f58764a7f8 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bf8ec9f-794e-480e-821f-2c1c2e04ebb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f6e42df-3bd3-483e-8904-edd35ec59756 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de73112e-ba7f-433f-8b2a-05015c68baf6 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6c66183-185c-497f-9747-ba59101aa2bb phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:151180be-f2ca-4606-8025-cc445735f29a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b598749b-f09a-45ba-b6ee-99fec74c7418 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c5f8be10-e6db-46f8-977f-5598f79a04f1 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a2d7d6e-88c4-4842-91a1-9d354f41392b phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dab685d5-8430-43b0-b7fb-4b9aa9cd7628 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9394670c-b6e4-4257-9a39-81465a596996 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0eee3b04-6699-47d8-981c-7a9604a2e62d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0ced789f-ebdf-49e7-a814-1c4cfae197c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3cf96239-6d71-42c3-93d0-60c2aa7a0a5d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:805e8110-79c7-479e-b4ec-44e2bbef255b phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7a6b7169-8e4e-4c1a-8377-f62d5294dc83 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eb03fb49-8e15-4971-b4b5-7cefe98ff040 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3f594161-1b21-4723-87e2-ddb3c10d5645 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:faaa2288-b296-40d1-8432-6ab09ce49be6 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c1fda2a-41ac-4fda-b998-491e6f11bbb2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0edc858-f2b3-4b7b-ad1c-1b71cbf7eb65 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f6a08f4f-3e46-4dc0-a8d5-200bad46f25c phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a79e35cd-f4c4-43a6-a45a-78c9c2638487 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e867e742-ecb7-471b-b310-f8b4fbc79e0a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:31a5c15f-7615-4506-b7ad-542b2cf10829 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:81741f6b-a672-42ae-8f7a-56d4b2fe7392 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:71681804-2f7e-4f45-bb67-7748629bd768 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:09efb9c3-7df2-466b-8c71-3825a8c57e01 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:169216c8-a211-44e5-ac35-e2e7378958f2 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8e3604ec-5c5d-452f-a2af-3463bca30ff4 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:002d6a49-1684-4141-8104-d4bec0e6c34b phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c46315b5-e15a-4b48-858c-17b71f46490a phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9faa55c0-53be-4b33-81a6-14893898cf5d phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:321571a3-385e-4a13-9405-9543f63b1317 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd31591e-921e-441a-a1b0-c01bb48b983e phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e39230fd-ebce-4f5d-8731-a20ac0bd3a08 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:acad56a2-3d59-46ab-b125-4cf7bcd3f904 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8c283c4-ff29-42a5-81f7-f1c5806aa728 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:86379e17-a549-413e-850e-e46ef95e2698 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b11d674d-c3a5-4306-9d42-6db63794b2eb phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:955dae11-c4b0-4753-8973-06244b250649 phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:08f08cba-bd5e-4c7f-bc08-34583399df75 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4419b468-8cc1-4847-b003-7a8ddda5b1bb phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4eee1280-d809-49cd-80ce-f7c2a0fbf5bb phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:45cc429e-e81e-46e0-8692-76ad9336f6e3 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3d739d1a-7c7b-4a65-a8c9-24e2f84acfa3 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83135c76-60f9-475a-84e2-39c6406b00d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fcb422f6-1f9d-4a76-bad2-b3859872f125 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ca7ac849-c3f2-4dca-bb7e-c7dbff5cf018 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:84f8aa04-0043-42d1-bf2e-a27277ff1203 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3a7b6655-9876-44b8-bfc1-04e0dab17efa phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b8469ee7-3849-4526-8fea-876f22bdbad8 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d0df6865-a348-4a59-bc3d-d8ab65b46e18 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d806e41d-487d-453c-bf29-dc2f9828e8f0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6127bb02-5df6-4c59-a6b7-f2680aae308c phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:34851411-1488-405a-9cba-5b3907f28152 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2fd406a4-b4d8-4bfe-a28f-da786f7318c7 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:109d700b-6d5b-4b78-8074-ce4509e144d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ad2eed4d-449c-4165-9ce6-e5ee9cd67e1a phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d8c5dec2-e8dd-40ad-86b8-74d426453607 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4ce0a607-4b8f-4139-9f71-45c02ad367b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4aa54438-d50f-423e-a378-a7b2fb7c312c phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2bbe1127-9e2b-4ca2-af60-5f5a75de86ea phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f60d5be1-bfc5-4eba-b270-2ce63805b448 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b03cbbbe-ba2e-4af0-80cc-3df4650c96b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b674a9ae-95f7-431d-b192-e7d13df2b64b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:23946211-1a5e-4223-bf1d-b8f109c3b931 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:520f970b-a091-4844-b171-e88d14f8f0b3 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e7642a44-98cc-4f6c-a765-b47b8a4d4504 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cdbac9b9-f8bc-4440-beb6-e04a27f9218b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6277f1df-4462-4800-a15d-c71dd30a90b0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f89ac4f7-36d4-42fe-a049-6b79e5fdcb99 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8ab1cf8-9fda-4b11-9ec2-23bb59d83228 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:844683d8-541b-4bbc-8a83-773dae1150e9 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:980e6221-e530-4d6a-9b18-a72e6fe909e5 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dad17a95-6463-487e-aaeb-5d95566a6df4 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0c797df7-07e8-4348-a3c2-56bc42059cd7 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:582d626a-4bcc-4741-850d-941def581b3f phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:844f35ac-0daf-4c38-90b8-9a424c5ccc71 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0843e6dd-4bc6-426c-9567-65d140e3e605 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf4094e0-173a-4059-b859-e10c9f5a867b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:292a2349-ea2a-47d6-a0e2-5a005dcdd8db phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:28192e07-da6c-403f-be7c-43364dbf4e23 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8bd85eae-e6c8-44ef-9702-be66a40e923a phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a0aa120-326e-4b4d-b92c-5528199aeefd phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40b0f2c4-7b8a-431c-a419-c50075d371e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58dd910e-beb9-4435-922c-fb0e6a1c2534 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2608c17c-b212-415a-8c22-d2b989477588 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e4e566f-bf68-4cf5-b5ac-7e4311202246 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc792128-93bc-44e0-b2d8-735929f07240 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:203d70ae-e56e-4bbe-9127-eabacb195e57 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1c2ca813-d628-4dbb-afee-86deca3fe555 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e99e943-0af1-4597-a8e4-33b33b869e02 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:156d6117-9968-46af-b16f-f753454b7bf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d1c280c-254f-48bb-8d8b-65e056b4001b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de871c6f-dd9d-48b0-b713-b4418f28488d phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a17cca24-0beb-4ef7-86a5-ef7cd3239d6c phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:605a4066-d91a-4925-a6ad-461e2c6b2881 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8f774a06-a5fe-46f6-8ff9-311aad01aaa4 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f88176c4-a6cf-40bf-a612-055a7dfb2aa6 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c9f75e79-867d-4af6-a8b7-21f589866e81 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abfbf514-22de-4e1e-932d-1ffcb2dd4f01 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:088b968d-6e4a-45d9-a97b-6fc996f83a41 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2102cece-1fb4-4042-ab20-fd919ce8b1a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bdfac456-a537-4398-9777-a0951a16d10b phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:5199340c-30f1-42a7-9495-63135afbb2d9 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5dbc0062-a4ab-4510-a1a7-2a7e4b14cbaf phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a992142-dd87-46b6-bbdb-9b68a6145607 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c4b2ee61-3780-4b72-9882-d12c643eef27 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:003991ea-e583-4c9d-b980-6b738205e7fc phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ead6ed9d-32f5-4ab8-8c23-d180734aa920 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eab71e89-2cbd-4de7-aeae-a57fcda44906 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e5b0be8e-3e29-4dd8-805b-7a675eb15922 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4da94f92-eaa1-4b4e-8f2a-8d969f93761d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4f098020-7230-488f-a6b8-97534620fd98 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4de6d779-f1bd-47cc-9181-4571007858e6 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:92af7968-ac35-4790-b366-ebba49c57552 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:39d9862a-a67a-418f-a723-05b63f9c0cca phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:683a0c16-d149-4eeb-bd9f-a012672826db phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:029c594f-9ef0-4ed3-ba0f-6bcc7045deef phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a09e57cb-96d2-4c2d-a82d-111271756141 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5c8236ca-f6e8-46b3-8d67-8108528baa21 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:83509a38-2970-4a51-9d93-012958b688d4 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab2025ee-dad3-476a-b72b-17f08cc56c80 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:678d6866-8cb7-4b36-861f-16e9966a9d00 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:54295d3d-0785-4cdd-96ae-e756c45056d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a811f73d-f4a0-44bd-967f-9201aad5fa1a phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47eeea2f-419e-468a-8e3c-83974bfb290d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c76a8964-b3c7-43bd-b352-9fef61c51a03 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8b968621-cd78-4896-a63d-15cb9c0c79cb phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c8182467-6da7-4c52-93d4-56207d5a02a4 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:386ecf2e-647d-4a06-a04d-8e7fdde5bdad phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5c7337f3-abdf-4ae7-9a74-8118b700810c phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d10a4e96-67dd-4b5e-a7b7-315993958e21 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43c9567f-4bb4-40b0-92a1-efdd57550eff phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45f8a71d-35f0-4260-b97c-e2312f878354 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e22c79da-2461-47b5-b731-aa3d23263661 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f32c777d-5012-4f08-b232-bf250d71db5e phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:80cc297b-f8f8-43bc-b4b1-620ea6430c87 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f76b8ae5-0e0e-45e3-b9e4-4eab82e3ed17 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f79dbb33-285a-4f5f-b911-38cbb8336fca phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d26ea05-0038-47e5-a8b8-360df9e7b3fa phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9cf76c36-fafa-4d90-bead-086100752fce phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cd59ad98-0c02-404b-9954-4fb18befee59 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ecff6cd6-6523-42de-8d58-0385da908e65 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:30c70083-3169-4bb2-b068-ccdd745c2faa phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da945075-74be-4a35-a85f-019bfa25a020 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a2ba52c0-3b2a-444f-ac25-29fcdd84670e phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe727d9a-2e44-4f67-9f8a-6551c745f099 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:725a4270-9dd7-4d9c-9579-fa0c92fbebd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9b80934f-d954-44f5-a0c1-b98a594fc0af phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f056ef6e-6d37-4e73-9467-59b4c850a3c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9ac45175-05a2-4ccc-9065-92b9945dc79d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:52742b03-c5c7-4597-9980-8db1431bf30c phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fc42f6c0-134f-4e6e-b3eb-9f6e1fb40e5a phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe15364d-9c8d-48e6-948a-fbb8d580906f phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c4f9f337-22c8-42d1-986d-8a7e63dfce6d phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe3fa3c7-1693-4bd0-8b20-5fa45fcb4972 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a543920-dce1-4964-900e-2333221a8ff7 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e99a89a-d338-4db8-b369-834279a8e635 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6c0d306b-a4fa-473a-8f51-b2a6a5643c4b phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bfa72924-7a61-45d1-bf03-416fe621c47b phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1644c923-93fc-49af-8025-d35f34f29371 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a8da684c-15ba-491c-ba28-a8f202e728d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b84ffce9-ab65-4b96-b256-58b7db1772d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ede7afc9-1937-4c4b-85d1-d60645dea113 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:64c8db54-0c3e-48aa-84e0-a2005b2dbd9f phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58547dec-b2e7-4a52-bfa9-5ddd8e950d23 phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:20c38488-0e6c-4626-998e-43d9542d8daa phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eeecc4cb-da89-4864-91d5-32085de876ec phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:5732a5cc-a5d7-4a03-b41f-58c7c2b32796 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:13368443-2eaa-4e47-8039-78d7642a973e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:47ce9bae-99c4-4f3c-a59e-e27f21bf54fc phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:76184f62-9b5f-4695-84c0-fd8038772082 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:31355ce8-881f-4205-a6be-534ef1434cec phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2a86bc69-c220-48aa-ad01-314207d5d1f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4c7fed5a-98b8-4078-987e-972f0bf7b169 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b253218c-f170-4d37-8f01-f412bdea6e1f phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d09e33a4-804a-4c65-909c-bb931b7082c2 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:429ac663-e7e5-4bf4-a1cd-45d3e8a01470 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b815e386-e6a1-41e5-ab64-6bf0cd85ba41 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1fdcda60-73ee-48d1-9dc5-9b6750793dff phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1228c556-1878-44c7-86fd-31fdf67bb11a phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e17bbd44-fa79-4277-a310-310041a12da5 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:70c94b7c-1524-4902-862e-63829bcdfadd phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6e8cd359-f780-4ea7-9c09-924ae63c5e7f phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5382e246-8e09-4147-b4b0-d6243ccef6c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7febde8c-1513-495c-8188-9cb1d9c49dff phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:798d424a-d480-4ac7-9d9c-33591c1755e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:908c7531-baef-4387-b9d4-1dae15327577 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:efbbe5fd-face-43f0-bfc5-eea8a6286880 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:eaf47445-3294-4585-bf07-0ac684ecddda phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a02f5ae8-c971-4974-9453-8ca39415c133 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:122e1933-773b-4b59-9e8d-1de1fa91fa1e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8515de44-ba22-4f3e-a1e5-5f8d15aaa6da phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:36816236-316f-4bfa-89ff-cae46a8afb69 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a199ac1f-4441-4dbb-b9f1-d36a4e9df08e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4945ce8e-2810-4ae6-81f9-719a377c6a23 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25e0288e-cefc-4866-8c11-4f7878e9b107 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:183e0ed5-574e-42d8-9194-36992e5cacd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f9105db-ece3-4e0a-9f55-41aa79070aa0 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dfc17da2-6263-4030-a18e-c9862e26d220 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4909018a-22e7-459e-a819-ba8cb476a37e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7bba75e9-45f1-4b42-940f-c00d21d2356b phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f438590c-d860-4bc9-b057-8a5196843625 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7f9d7f25-cb01-4fec-9b8c-46ee518d065e phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2572ec6d-0c1d-41a5-bf52-28447c44766f phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90e47e3a-2377-4d81-9319-9e4f2576220a phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8450f059-d3be-45b0-8829-fc77fa8622e8 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:90f1a2af-71a3-4e95-9b02-9d60c5cf3bc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a0698024-12d5-4149-b338-22534b4fe556 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ec267444-4095-4d9f-af51-922cef91dd83 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f19db589-c1f1-4e4f-8c3e-1e15d633a939 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:feb95c77-c43b-4bd3-914b-1e0388be4103 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:501d8a97-404e-4186-b578-949c0cce8246 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4402f1b3-893f-4164-af5a-f04ec51be4d0 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d03648cc-452f-4b6d-873e-7af007d8b6f7 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8c6a7261-cf39-44aa-a7ab-9091f8ff4cfc phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:42e2ded2-b3d1-43b6-ae8e-caaaa56c3246 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1308205-0769-45d5-b81c-0c93a97b8dc1 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47751380-1c4a-4da5-b448-275c2aca7081 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:56a1d5f0-1368-4aae-b574-be6c8683dcfe phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8cf76ce7-bc14-4fcb-a11e-bea9d2a53329 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb67bc18-908c-4483-a6a1-cf6793445a8c phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:18ab2e7f-3b6b-45a6-998a-1eca7fb2e70c phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:03f7a6c4-3183-4977-a560-5634d54dabaf phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:78a6e49f-75b8-4845-ac80-3e2a787f81c9 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4ec5a75e-42dc-4c48-9f33-94e3fe8dc120 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:94052c7d-b9a7-4d2f-aacb-6d2d1e08bffb phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df23fbbe-aa19-4737-bfba-a622ae0d91c4 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9b1199f-e354-499d-af8a-0ccc47c54d82 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d23ee51c-93ac-4257-b67d-6becdad5a364 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:aafa199f-2d72-4ebc-8576-001036394bf3 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0119802e-fd0a-4daf-abba-d1128f598e3a phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c0700990-73e5-4221-9058-dd3955516ad1 phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:c132bf85-5534-4773-bd36-9bfc98f9d3c6 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:29ff4714-d9d4-43cc-beeb-4c501d32f900 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cb373601-c280-4c39-9300-6dc1e689ae2b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:aca2e1b0-9870-4139-a883-54c4e9e02e81 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:46673a56-3853-4368-86b0-46c25443336d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a1e0ec39-1e9e-446d-86e9-81242a252ed4 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:e63be801-1641-4da8-a6f2-6618a5295b8f phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8ed37a73-7aef-4572-b2b5-9e197046fcfe phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:18ce68a6-96a1-4f62-a46c-eac050010bde phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ecdcdbeb-c5de-4160-a83e-569b80790f7b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d1db12df-a4c9-41f2-ab29-a16ec964ebd0 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:12fad32c-86a8-4afb-8068-a9fcfda954cf phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0f17684e-c015-4da8-84a0-1f92f2459094 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4e84ae9f-cb74-42d5-b6c9-4a76e497be02 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:17311187-d451-43c2-b382-1b28150f363f phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4f676cb7-cb6f-4341-84f1-75f9818e9d32 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9e69bae6-75f9-4564-9ec3-12928e03d051 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d7f3140c-ebb2-4def-aaeb-5f436391649c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54fdc1f3-6b72-4977-9022-7b893aa78b3a phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:53d646cf-e4ea-4645-a499-94de8a4e920c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a42691e0-004d-4f81-9995-eb48968a3bd6 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d6de9259-d082-4896-80a4-99be92088e24 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abd48cdc-81ba-406b-8a14-4080c056b1d2 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:396fe0a7-01de-4836-b94b-53aec1ef12ad phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e6ffc903-7caa-40e5-99d7-06bea130446b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:548f4c6f-d563-4748-943b-814cfcb1745b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fbe9e51e-b303-4632-bce3-2ea4160f55bd phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0079fb7-812e-4bc6-bc02-03931cb472ca phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:de583008-32dc-47ce-bcb8-a006c6f7099d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a98be0f8-4e8a-4d3a-8471-7a3f0811cf9c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:56d2b7da-3c65-4c10-b075-f752881cad18 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:05d940db-2fec-4068-b2c8-227c22cc1c9e phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f47e8caa-2995-4029-a11d-0372fd167b6a phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c1139a18-0b43-40f4-9fd6-e295defb38db phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b9f9eabf-f703-4bdc-ab3d-6fce930831c5 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5453ae3f-3e77-4507-81fd-8d7105281251 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4038fb4e-3ddc-4727-af6c-726fd50b7cf5 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7c86851e-51fd-4f56-96d1-58b4ec4ae84b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7003df3e-8426-4f8c-bde7-1766dc44c6b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:58b33e93-e71d-49d5-b85e-55b0b7054a69 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d736c0a6-9632-4114-951d-6c699dfcda38 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ffee8397-ad0b-44aa-ba8f-de5f2d844c7c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:113c4801-b4cb-40e0-b8ed-988cd484ef07 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:43a7b032-aaf5-44e8-ad0b-d3f5f4d8007d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cb1f6f8d-eab9-4aa2-a3d2-419bd6cff785 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92962f1d-5f43-40c1-91bc-e1c91b92f8b7 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b11f897f-da28-44bc-9d15-7072d684890e phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:99cac5a4-6fbf-4a8e-af34-0550d2bf1ad5 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92ab8546-6f30-4160-8c44-1693da61586b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6f5ae0eb-6604-48b1-b8ba-7268b8b7ec09 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f01b7dbb-4fb8-485c-9249-8495bf5b2aae phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:597ed688-2a6f-4c86-aa43-34444d60f20d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45065c5c-88c9-4b24-a5b3-189c7dae1a30 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0d73a8a-16da-4dfe-ac8a-0a62634f6e2d phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:215c1a92-03ae-478d-bbe6-1dbb22166aad phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bc91137a-8fcd-4ac2-8dab-e491b4c2c5a0 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:54a695de-ba87-4abb-b641-6f329bec011c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c6bd80f-e495-4627-8b3a-f251b866fee9 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d5d9f4a-2829-4d67-b200-dd6bb9376cdb phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:abe9a635-2891-457b-877e-2bfb93621c0c phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:0fd14a61-732a-4e0a-85e2-7c05419e0b0b phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8448f1bd-aed4-461b-b6b4-3592d8f0c268 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d0ecb82f-d67d-4ac3-a7a2-769ae116e727 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:15c643d7-ef5f-4f48-92c3-486ebeb542d7 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd2cbcca-eeb5-4216-aa24-c9c2f9d4be82 phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:38c3355b-c4bf-4e28-a271-a7450b2d9d47 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cf6bfce3-ada9-4ace-ab24-12afbfe37344 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:fbe5ee7c-a582-4ba0-8310-1f76f7389369 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:022b10cb-dcb5-482d-a665-2a0c5e12de9b phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:52b320cc-0590-4b82-9ff0-3e6601a3c415 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f7e6c796-958c-4368-a229-a54da3e81a62 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b490479e-fe6a-45e9-bf8a-fc2d553e4433 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ab5320e0-f6e2-4958-ab72-06d93693ef08 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:b1f0a71e-5c4a-40bd-a973-ef0b30a29623 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:89530f8c-1371-467d-8dd5-8e950d9adaff phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5ace60ce-3316-48e4-aeff-22f5da645f5e phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:f597e63a-46c9-436e-bdc8-c7d21f1f759d phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9edb7317-106f-4748-bc58-2f25cd44ca2a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cc5fb84f-84f1-452e-ac28-540ae9b10e61 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:7b0dfe96-ca96-4e46-a9d2-70255dc04fc3 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:5e289ad5-7d40-4cbb-b3d7-f427ddcedfd5 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d3599e9b-4f99-407a-a220-974ec6c5c8ed phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1a438c33-f008-479f-b806-7a7095807fda phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:00d7ce8b-6d5c-428d-9174-c7f75efa8e5a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:6cbccfe4-1356-470d-ace5-8ce4246284dc phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2116873b-7a8c-4fea-956a-4b2baa20d89a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:562df3a3-4569-4687-a52e-3f0716305487 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:9bf7693f-3dbe-4d52-82a3-6e3cda9f7b6b phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3c3da65a-8f1f-4956-90bb-3f5e09f6d6e2 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:89185af1-18d1-459e-891d-88538bf6b7e4 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:83d62938-9405-40f0-82a5-5ec87c9b9eac phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8407c3de-28ed-4bb3-bfb7-8f48a22bce8f phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:be4eb49d-eeda-46ea-a953-eb1ec5f07449 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6b402470-46a1-4444-a6c3-ae5ca42682b6 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4dc99d30-afaa-40a1-abc0-be8e5ffe4b41 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fb0ec55c-fa5f-4a29-bc2b-b8eaffdde684 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0003b40-8c76-457d-8fe7-5513ba110ce8 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:40a80977-2b93-4939-b9eb-949c3d5d522b phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4bd90d68-6179-437d-b1da-3d664017542d phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:92985b56-d4fc-4590-a9a4-39fb3972ca01 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:851cd9ec-58a9-4ee2-900d-cf5289b20b82 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21afe99e-1e34-4eb0-a885-651334fe14c1 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:70a40688-5a20-40fa-9f13-50c19f61034a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:998d2e8e-abf0-46d0-b455-13d873266279 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c216aff9-320c-470d-9142-bb7d5117a45d phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2d15ce64-6cd0-4c4f-b44d-988bb723dd40 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:bb35990d-d3d5-40e4-b696-bc6d64e38173 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4c5a1933-cd1f-408c-a860-2f3fe54949af phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ea8bec44-0d98-4dee-bab4-bf45a570e811 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a4115184-5b8c-4215-8cca-e4a4c4a4539a phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e3f0383f-c487-47e0-b487-7527d6d356af phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:863dc200-1b92-4a22-92cb-9dc5ee812e2e phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:08561835-c6a7-4356-b0a0-e5520eb6b9d6 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:dd65b10c-77c0-4642-a8d5-57a5d7c52e15 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:714f3d22-9dfe-44b6-aa46-fc0f05697dc2 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:6ecb2cd6-26ce-4768-9555-9ff6392e2e24 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:df4cc46c-6736-4780-8f05-ffe67e3b054c phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b39bba85-7d60-4b81-9225-b126a4cdb5f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:824539ab-6355-4476-bbcf-d4b2005034de phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:811db1f9-1c2e-4256-8ef1-00c968e25399 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f0d4acc7-ed93-4ac8-8893-13b281c6ba87 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:1d3ff772-4931-422f-acf3-0584e244c433 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:59102cc9-969d-4118-8dac-765e0996d162 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5470bb58-e2e1-4da5-9e2c-67057ecfb613 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:cf3818da-0fdf-4eab-a5d1-80ccef2bafac phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4d829f3e-ed08-4801-8232-cb912c2454dc phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:425beebc-0223-4a57-bc8a-2b82e842e7a2 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f32aa76e-f912-48e2-af97-ecb03f05e050 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:07313406-b56f-4005-9471-d3b45c27c1e7 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8d5f7380-a771-4a6e-a027-47554b1a6390 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:e4282606-4acc-4094-af70-e5de2677cc16 phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:5428f2f4-1a07-427c-a604-3b9ec3796d56 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4a78b0f9-0c36-4084-ab5d-e7a44ca26947 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:da4a31a8-dfc5-4790-8830-aa14f6d3f23b phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:c8661439-e3d1-4883-bc60-2b654df50bf7 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:4754633d-27e6-471b-933b-1f1d1a2032d5 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:1e7a2afc-6a81-487c-a8eb-7be53d01bd81 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:3e5fd882-b8b7-43e1-9215-38ce21c432cf phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:00dfa7bf-8b28-4a08-922e-0524a30ca09c phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:eeaa2971-7421-4705-b247-499c76da1acd phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:17c7b773-9702-4292-86a9-46481b1c024f phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:ac5b331c-3a1f-49d8-a763-22057dc814f5 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:cec696b9-15d5-4e6e-98aa-4c436c887002 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0005278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:d4e46f22-96ea-4151-bee8-7cbb333a396b phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:137afc67-de18-4a51-9b12-227c40ad6b0d phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:2c3d0713-1346-42bb-99fe-89d5e7b18c26 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:dbc4a4f1-9a4a-46c3-ab49-e9bc489e15ba phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:8e3abaca-25ff-4aa0-bf7c-07f955ed9a95 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a4c43574-96b6-4373-9fc8-46edca7bc0f3 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:996847ad-65f2-446e-842a-9a80551dd7d8 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:0c7eb362-26a4-4c5e-9581-ee2e7c3a8fcf phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15266616 uuid:a89b4600-ee79-4256-bfcb-1c9a35594c9d phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:afa3c336-927f-4da3-8c7b-3d1cbdf83c41 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9564bfda-bc64-407a-8dd0-51c73b1df697 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:ba4cf897-43af-4b6c-aa7e-7000215cafbe phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:25732de0-f5f0-4167-9f62-dc70cff4add2 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c2a9de3a-197c-42e0-98e2-e25c7af49ee0 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b448483-6eaf-42e2-9935-c9b3bf302c19 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7563127b-fd17-49a2-aa67-823b1782a29a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:fe45bdb1-0c20-4044-82d9-44814f181e80 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:b8f97729-e4a3-4ab4-9609-f12e7625c305 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:772bce57-b6f8-4199-9ce9-021a477ba83f phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f65949b3-5e89-41ae-8bb8-391124d834cb phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3b8fdec5-8f9b-46d3-84d0-4ba8b6c35723 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:862e7627-2296-4638-9694-7dee6d72da94 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:767ebaa8-8dd1-4766-8979-6895b4c10580 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:5fa60ab5-9477-4e69-bc60-9ed730e5d9fd phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f900a04b-c8e0-4dd3-b94e-a54b3e723b3b phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f31ac416-8d04-4ccc-95ae-7bd5d6141f0f phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:996c1c77-e2d1-4e03-9563-91e480fe16b8 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8289f72a-461b-4178-a103-349f51a51401 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:21126e3d-4035-4c55-85d7-9e96ec0c4b32 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3d4ab081-0ac3-45c0-89c5-a649c77b6384 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:45c24624-43d9-4a69-b9e9-97711523f914 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:4a7e076c-8d22-4100-b1e5-366a9196e0ad phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:da9aa95b-e2b0-459d-a082-a4567416f7df phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0010282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:3e7cd4ea-c314-4ebf-93e7-3d3dcdb1a902 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:63a2c807-e355-4c2b-b787-c95c74ab3d67 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d737ad14-14bf-41ba-8962-e7e43680aa11 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:69f920f8-24ef-4e83-807a-8010964f15f9 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:212d00be-1c70-45a4-b1c8-264dce0bb5bf phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:390eae55-65cf-4bd4-a979-0e11571aa229 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:d8a11019-198b-4c70-96e2-977d6f391de2 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:2bd031eb-453a-4625-8f65-521ac2fd1448 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:75477dba-c339-4340-aa69-2ce1b9eaafe3 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:9a408b5d-60f4-42fb-888b-11f73c72cff9 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:47108a62-fa82-4553-bb4f-81cb81eebd2e phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:a9640eec-a5a0-4895-90f2-5b0c00a26b2a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:8ccf2faa-28c6-4f3a-9591-b8796f80cb88 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:82d5787f-02d5-44be-a0f0-876dbf0c7a55 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:af3b39b5-40f3-45cb-a909-09efa329d70a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:7beaa97b-8d50-4ae9-847f-421b89c88cd4 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:f4ab0184-2fec-4f9e-8948-d75175051c43 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c89411cf-87ea-4800-bb45-bc6c7690d7ca phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:275a2c34-e609-4dfc-b6f1-f606a1c875b2 phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_phenotype HP:0000078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15266616 uuid:c867c802-3078-4d78-8e77-013779c5420a phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:has_disease OMIM:147791 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15266616 uuid:4d6ed5b5-e9a7-4a3d-9fc4-44de396bab82 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0007530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:28239884 uuid:abdb0111-fd79-435f-b909-4f6a2d8166db phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:7c5e56e6-f014-4235-a15f-a582cce8fc9b phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:b57eb7a1-79b4-4a70-8a9f-a86aabd85ea5 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_phenotype HP:0001595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:bef7828e-d285-4f4e-aaa9-1c1b7be44027 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_disease OMIM:148600 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:28239884 uuid:9372e732-4c31-48ef-92a1-0677ffd38fd1 phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:has_gene HGNC:25662 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28239884 uuid:d1e25eee-f2e1-4322-8fd5-d15a3de6cd17 phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0007530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:28239884 uuid:1efc0f8e-03c0-41ce-90ad-55b28f0de949 phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:56f2baa0-0efe-4d77-84de-0abb31398a6a phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:aa1428d1-6bc2-486e-aa52-508d6ae5161f phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_phenotype HP:0001595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:1773023c-e74e-4c6a-a869-8d36415ff00c phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_disease OMIM:148600 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:28239884 uuid:4ebc3b80-da94-46d3-854e-34426253eeaa phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:has_gene HGNC:25662 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28239884 uuid:4bb0b728-4f37-42c6-a746-881ab8cbdbd4 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0007530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:28239884 uuid:e82b88ad-e81b-4803-a150-90ca2015b830 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:df28b7c3-c493-4e7f-b8fa-8f24e1823008 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:ea9e5c2a-7980-4c1d-9540-5c6a0e5caf4c phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_phenotype HP:0001595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28239884 uuid:1be47338-49c0-49b4-be7d-94756b60d359 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_disease OMIM:148600 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:28239884 uuid:d2f7e48d-2469-4d79-aef8-be9d8e25e536 phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:has_gene HGNC:25662 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28239884 uuid:72eac1e8-f457-4992-a94d-ca45b56c3500 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:f06140f0-8dc3-45a9-82a1-1ab605a99fee phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:cb373bac-7822-4c5f-bfa5-d36eb875a19d phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:548ff6ac-f2e0-4871-81d1-bac1395bdad3 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:c0785c05-c9aa-401e-96aa-2d39494c9049 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0032286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:f9dbe8bb-1698-4272-a72f-cbdb191c4502 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0030491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:731a0566-5e3d-4fa5-b399-b2729155c31e phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10874631 uuid:bfefd629-b7f5-4266-af6f-931eeb71fde2 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_disease OMIM:601718 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10874631 uuid:2b89a7b4-eb76-45d8-b5cb-2c50759af314 phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:has_gene HGNC:34 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10874631 uuid:de1edf84-09d2-4496-b43c-309bfc7e7183 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:b93dbfb9-8bc8-4f6a-93dd-e6c9ea802b7e phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:9672e772-1c2f-4ceb-8ded-9d01114f40c6 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:d760f142-96a4-4eb9-9d3c-932fd0d7e98a phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:6e864bf1-8bf9-4f20-8adb-841a6e16454b phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:eafd717e-03d2-4cbb-bfc5-4c572bd29da4 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:ec4bd47c-2a63-437f-bec8-baf2a8ed23eb phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:5b1a4424-7b3a-4d92-bd84-7629a7ac4b44 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:654c3323-326d-4613-ad8b-8c124633aa3c phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:e7979fac-68bf-4c18-a280-1c845480246f phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:67174aa7-575a-40ff-9f27-708a303003c9 phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:aa7d4fa1-cf6f-45f9-85c5-4915a145f6e9 phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:f782f30d-bce2-4d87-b7e9-50a58d868c1a phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:c44ac2ea-6134-4f55-933b-8feff1f35788 phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:d69f874d-5cb8-43c4-961b-d11c3852d1b8 phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:88540c89-e97e-4631-b7f3-7356283436bc phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:44aa3f43-ff13-4cb0-ba81-89e26bc48b0f phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:a341a89e-3d42-48a2-8bb7-5fa8fee74eee phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:2dfdd56e-ba88-4c10-b55e-300dff444374 phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:592689af-942e-4496-973f-b188e5dfa439 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:52b05a20-ca98-46d7-a8f6-8f9d343a96e8 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:9d9e721e-36d8-4dab-8a60-d5194cdc1250 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:6fc55a43-9ee0-4c40-908d-9265ae8220ca phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:ca2de234-9a23-48d0-8b93-7ac89cdecd35 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0004840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:757c0232-6ab1-42d5-8ee6-6bc4c957ec69 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0001924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:eb367cad-acb1-4cac-a55a-ba2d0ea2f2ff phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:ab1f2758-4cb5-447b-b565-fe14f2db847c phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0004447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:19fbb890-42e1-42b5-961d-f2f5d67fc7b6 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0031020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:718c0789-bc52-4e0a-9185-abdb94fc54cf phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:9b1c4bfb-162c-4ce2-aa3f-6611839f5ac1 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:f6db0e1b-28b5-4a09-8968-510c7ef50b67 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:8a1b0e7d-81b3-4808-a5e5-30432f0e2a15 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:a6bf4ad6-71ef-44ab-88f0-f603e9a58595 phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:2038f010-0b2a-42c7-a06a-765b401f442c phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:80b2cfbd-0acc-43d4-8c72-e5980817e052 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:95e98aac-d645-4037-82bf-8b58da8de091 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:7cd0ebe4-4a50-412f-8c57-bea35086addd phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:71cea5ec-4e7b-44ba-9d48-66d73126254d phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:5fcb3fdd-70aa-4c55-9b46-7cce4690fa4e phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:5837617c-4a6e-464e-a471-aaea2b3acdc2 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:69d028d5-82b7-497f-98fa-de5e38e8304d phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:feda4eca-b857-45b4-8708-b916d8784a92 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:2f784f67-a97b-408e-aaa8-52e3ec1798bf phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:3da4f66d-c266-4393-9d98-c5c4e7dedadd phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:af71d5c8-4463-4b4d-9f30-00b43da7284e phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:b52612eb-6f1e-4926-a071-b88352a20458 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:f997675d-410c-4080-be6d-a188c3a16c5d phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:943104f5-c95b-4f5e-ad7f-e03ee4ce20d6 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:ef778bf2-87f2-47e4-b97d-3b2a18dab201 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:536e2d24-6c6f-44d3-b1f1-25562b99593b phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0001992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:bfa0e080-1ee3-409a-a6f8-2862de0076c1 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:0b2314bf-45e3-4ced-838c-f6722e1e4a6c phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0025373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:c405b140-c8a0-448d-85d5-54eda2245a24 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0006999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:e483180f-b651-4b77-8ddb-c45f5984e645 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_phenotype HP:0012751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34354969 uuid:72b2a265-d62f-41d0-82fd-52682e8f62d4 phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34354969 uuid:4592a67b-2b23-40ca-b8b0-a113dd238fcb phenopacket.store:ABCB7.PMID_34354969_P18 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34354969 uuid:d1cd7a21-8546-466d-b766-02db63f00054 phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:31eb94b8-1646-4a91-a891-db78e9b60d78 phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:77ec71cc-d64c-43c5-97cd-6f6eb6a1ae32 phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:72adbd73-8914-414d-b7d8-b24e7174f39b phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:7332ece6-642d-4cdb-92a3-c54a10538b71 phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:a96f8dee-16d8-4f87-90a6-a57b300b435f phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:22a19662-319a-4170-a7ec-e52a42c36b7b phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b3c5b247-1e53-4f75-a50f-151a815cc0a0 phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:e4e18b64-9f38-4974-99f7-76b7af97191c phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:177a5968-d0f2-4f19-86fa-10735ef6112f phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:28d953c1-a57a-49f7-8588-8fc5e773d6cd phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:225aef86-47cb-4ef0-b21c-a9dad1c705fa phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b485b5a4-9a98-4347-aa7a-2d3189f3f69e phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:e32a50f6-bc7b-40b7-b740-66de003a672b phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:0ee531e1-f0ab-4942-835e-c9e6ba6523c6 phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:d7b680aa-d45d-433d-a02a-28562dacd24a phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:2851b6cf-a2b2-445b-981c-13b2d816833d phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:5cb20f58-94fd-4259-9a56-d70a0c0b2553 phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:50eb0f73-7ba0-4b2e-98f3-dbe7f96e21fd phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:f2cf0e67-6c55-4c39-b10f-c21bd76661c5 phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b5a8bee2-fcfc-4a0f-86d4-d94a7289c394 phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:48b71b72-480c-4ceb-8dcf-ad147f46da45 phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:17054103-3b47-4626-8d19-fb7aaa1d9f1a phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b5efb7d7-ea43-44e9-9260-46ae49772dc8 phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:f2357b30-31c2-4686-94fa-7a07abb4e0ca phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:fc72dfa4-71ee-47b7-bb82-910b5b118d6d phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:a361c0cb-dae6-4641-946f-737730871426 phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:7a3be83e-615b-4e7a-9bec-512b444c646d phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0004840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:9b446854-a586-42f7-beeb-7fb5ada51a20 phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:6101d042-fa2e-418a-b29d-1f659be7b0a7 phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:46f27a77-b4a3-418d-b617-b9c97695446e phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:2ccea860-9b1a-46d4-baf3-3feb49bbe70d phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:e637a3f3-160d-4536-b5e3-3d7fc21d4f72 phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:786d7e51-1a3f-47f2-8457-6f936d89ddf1 phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_phenotype HP:0001315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:8f650410-a103-46d3-b699-943426184f3b phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11050011 uuid:ace3ce50-5de4-409c-a17a-cf34b2c0e6ff phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11050011 uuid:1d99face-f1c8-4fe1-a27c-75a2de76da68 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:e384763e-0932-4a78-8226-191a3547efa5 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:4763a9fa-964b-4f9b-9158-798aee17b11d phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:cf993585-a035-4b96-b2ec-c3edbc2d0de1 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:1a60ec7d-2711-4961-bb9b-066444cb59c3 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:f38cf8f2-09a0-40a9-90e1-5ec48bbcea30 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:1f966a23-1af6-490b-b42c-5253d8e6a48f phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:a7b62c5b-1241-4c2e-a09b-02dd3b2a3383 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:8f9dbe4e-d5d7-4fa3-9d65-32bf3a4f2324 phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:3d944594-bef6-447c-b933-9321f61c75de phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:e33475cb-b58e-428f-ad9e-b1f4c7439450 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:154d3ab0-d5ec-46e3-ba35-fd2c156d0a61 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:9b3b3bfa-79b9-4836-95b0-a444ce54054f phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:2751e384-28fc-4f75-b882-17dd0c9aeef5 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:7d646aec-68fd-4055-86f3-540168d59f60 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0020081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:716f5dd2-9e98-42e5-b686-4474730bba68 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:0080d9b8-2dd1-4aff-a575-e0204b07d48d phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_phenotype HP:0002363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:cc6f7cfa-db8f-4bf3-a011-4e925ce646b8 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:984e3f1c-6ea2-4aad-8041-9a09e118730a phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:239ca02e-0126-47a8-bf1f-f30c0834c907 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:dcec789b-d30e-4e26-b855-a7505e625b20 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b3e76fab-ade1-4f02-a1d0-f761ff0875f5 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:2b75bd97-f66d-42a2-a713-bdac8a12b7f7 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:429ab1ea-c1ed-4d1d-8fab-06e726a1c879 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:7d2d8ea8-9d13-4d87-8d91-14001164ea40 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:24ef89aa-2795-48a5-98cd-62cf5c0e4654 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b8006d00-5ffe-4d62-9f8e-523f2ec9e93a phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:ecf78a0c-1d56-4331-be86-c49cd25ecaf3 phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:9b5257b9-78bc-4f03-835f-e6db31deb374 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:caa8b12f-7a64-4bab-8c42-886baab045f9 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:56c521e2-0347-49f2-b079-8734aa99ef4d phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:fe5e17a9-1b73-464a-b367-a665767dda10 phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:3d9d1d3c-df6f-4e82-a16e-4b3e4743b05b phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:96dd06e4-5fed-436a-8dd3-f5c3fecab990 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:b7414eb0-86a0-4061-8798-f86bac23ddd4 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:289b8b64-f7af-4e08-90fe-432c72ddd60c phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:cba51d5d-dc24-4641-be9e-5ad1f9cf80f1 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ab495065-a4f8-4b98-829a-df73638ee42e phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ee9bdcfe-faab-4762-aad8-8be07fc69e45 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:959f224e-7430-4f37-8fcb-438498129f7a phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:cc6d3286-c413-4850-9164-9b5091a2089a phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:02527cef-386a-48d3-a148-222d02455744 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:56f01dee-aa95-4ea6-be61-73574f79f9a8 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:095e633c-f7ef-459b-a108-cd3f7843aaa6 phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:01cfc7bf-dfea-4afa-9c96-176737fe144d phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:7d07ce64-1ef7-4733-8795-aa172a28d60e phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ddada589-7a2d-43f7-972c-0ff4a9d7a09f phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:856011ba-317d-4c81-9070-a7b91127ac7f phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:4eaefdfe-a892-40b2-981d-95afe0d08ee9 phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:ee749250-b22c-4a7e-857e-1e8f93b39fb8 phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:5eecd73d-99d9-4e06-ac5c-1dd53b6e253d phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:df1f229b-7ad3-4b26-aec0-d06db0592890 phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26242992 uuid:4b1df665-d98a-4b12-b106-a3c5da01c3ee phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:c8878dc8-1faa-4d29-9de5-e60eaaa2bc8c phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26242992 uuid:0ebfa714-e13b-4a85-a296-35c5a63d7094 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:0ca12323-b2ef-4a00-b79d-d94596edb1ee phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:ec9621d7-533a-4738-aa45-949949e6b6be phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0004840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:a4f8f5be-a8f3-44e3-aa40-887306e4c349 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:190e5e63-2215-46cd-a4f5-e23afe625a48 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:9d59e0ff-0963-4778-a22c-af76760395b1 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:a153a00f-3e6e-458e-97ed-d81508129f69 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:3637552a-8584-482e-b20c-add522600808 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:b93eb7f1-c911-4fe8-9ece-e1885441a462 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:0ed18249-ebad-4f96-9806-e73f613fd200 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:b0e668dc-fc0d-4d2a-9d27-34eb4130e3b3 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:33b22b8e-c749-4117-ad25-ea4c7065ee90 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:bc8f8af2-2a8f-4185-bc18-34eb78b571ac phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:0063a271-7666-463f-ae91-69eadb7660fb phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:0642038a-2422-4dbf-b0d6-b0873ae925a9 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:5e54e552-10c7-45c2-9b7d-14e928e50fac phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_phenotype HP:0001315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11050011 uuid:54f76508-6de0-4cba-a77d-1c0928a940b7 phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11050011 uuid:fdb0ede4-cf37-40bb-ba40-6f48023a179b phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11050011 uuid:2cd448ef-221b-4b60-bae5-22ff3516bca5 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:77396b5c-7778-4973-879e-750b3126ee47 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:e28b7f3f-26e5-433c-9226-abf8a5c5bed0 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:8bb3800e-c6f4-4555-94bd-b6df23a5c098 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:06035407-ff1f-4142-9eeb-6e0576b44381 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:bed49e71-9227-4896-8d72-79740d51956b phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:d4aec79a-b688-46b4-978a-5b179d8523e8 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:f98935a6-7b23-4b39-8e30-e70d3211edc0 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:e6e676f8-7e1b-4785-a9a4-8e09f2e7312a phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:9d7b2257-68c9-49da-99fd-7efdbbdd3fa5 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0006897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:eceaff2a-49a8-49b8-864a-1ef031b99db3 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0020081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:7f57a06a-8ed8-4753-a298-2f0b3b5168c2 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:29f976be-f9a4-4a02-a924-57be7758e563 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0002363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:ed781ddd-e129-4c93-95f7-f614a9f991ac phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0034280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:6be09cdd-47d3-4d5d-8390-f53f089544a7 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_phenotype HP:0032550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11118249 uuid:05f4231d-29ab-4ab4-b7d1-15d7f9341e8c phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:be7e0102-9294-47ce-8ddb-0757ff516775 phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11118249 uuid:ef01e3e8-563e-4502-86e4-409be7ec34c9 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:51703c45-9402-4650-b31c-86e7383480cc phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0004447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:e7056aa6-de71-4f66-bbe4-116b68649351 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:45d54f9e-76ab-4032-8b72-6930418f721c phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:ac01bcb4-46e5-42c8-bff6-db7ebb0a615f phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:6ca340d5-20a4-4722-9cf9-759c487e46a2 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:b21e0ac0-b8a6-4a3d-81c1-e6eb5000fdc7 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:e6fa11f0-ac15-433b-be33-7ed22a572b45 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_phenotype HP:0020081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22398176 uuid:16083374-250b-4c30-bbce-dbf92bb05e66 phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22398176 uuid:5a9c4726-5d46-4179-8b49-82fb9c94bcfa phenopacket.store:ABCB7.PMID_22398176_proband biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22398176 uuid:c8f2432e-44c9-4431-a675-c4747ad7799c phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:acf7c672-1152-425c-bb61-20bfbf18d017 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:5b5a6f3a-b6b8-47ea-aee7-99aa95362d5e phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:a88935be-0f54-4ed5-b1d4-c2c5bb80524c phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0004840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:c9d1c73e-bc58-406a-83d4-822ea5e1cc8b phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:6a849716-0733-4bd5-a421-4316a8f59d1d phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0004447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:cf3b22e1-a145-4efb-b81f-9248f2ac513f phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0031020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:9de8d49e-df87-4bb7-bb27-e0cb43032d69 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:94273da6-c722-458d-b8f0-2428b2bd607b phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0012187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:aad149f3-67f9-44bd-a14a-d92c82ce7f12 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:586d4ab4-3a5e-4f78-949b-61547ea883b4 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:854f9661-2459-49ef-b5f2-b5c7a097cbcc phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0012132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:d298d207-1159-4252-b637-61daa0f85ced phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:7090ff93-2cb1-4294-9a82-0181a50c10dd phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:28ad545d-bea2-46e0-9b04-7724e6364f95 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:adf62024-b7ae-407d-901d-f4167eeaac68 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:4045952 uuid:56c5c9cc-c1c2-4d12-ae73-c1a848e00f16 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_disease OMIM:301310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:64a3c6ca-c758-42b2-9484-6221967a9de4 phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:has_gene HGNC:48 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:4045952 uuid:717691e8-2e9c-4d7b-adba-3948e385ff23 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8f59e431-76bc-4eaf-90a8-7b888fdcd3ae phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f7381b55-a5b0-4324-aa71-38235559e2c1 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1ffd2d1d-d35b-41b2-807e-000394038b35 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2f9ea9bc-fd2d-4666-84ca-683eacf36f36 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:94c85b4e-9135-4307-aa51-a67bca5e1ee4 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6e6166f0-c196-40a7-b0c1-12feb06a0d42 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d0770ba7-2e86-4496-a68d-6a0986f3ecc0 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a1a286a9-ccaa-4080-abcf-c493a0a14be2 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94c73b71-2718-473d-8526-3ef4a8e1a69b phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51e3b74d-9755-4838-8eff-6eb1aa501327 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4fb5e2c6-02b4-482f-821e-b6feb6af38f6 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93ecd609-d712-42fd-bf9a-fe558ac9936a phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2410d493-b720-40fc-bb3a-faaaedafcc84 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a1c281a-689b-455a-b9c5-a7a062ff8a1e phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1059a6b-d9aa-483b-8fee-9fc2297e9a27 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54cf2c68-bb61-47e7-8d2d-10b1016b3797 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:764fde83-4099-4cb4-b0ad-40c094707d63 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:323758de-3e7c-4693-bf6d-ec4afa242bb4 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f90445d6-1296-48b1-abc8-b4f839e122d1 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf0818fd-1b40-41a6-ba49-dea9cf3e7f87 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1452439-139e-4dd5-8b01-157aebde93ff phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8700f06d-fef4-497c-a91e-13ebf8732ba2 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ef904ce-4d79-4207-96b1-f7b3cf39dfdf phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee902f3b-40ae-4a66-b6ce-229acae7735f phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9966e94d-9b5d-4524-8e95-a04001b727d9 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04f3d03f-fc53-4733-a0df-ec85e121a727 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:efedc6a0-6348-497f-b841-9553d9413823 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8c32c65a-5e8a-4fa5-adae-06db57d8b40b phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8284154f-be70-4fe3-a2b5-ee15406b2573 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6053953c-d037-4560-8e3b-828da45e5305 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17fbc1c9-cfa8-4bed-b0e8-11cea6d0feef phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2af86c4-db5c-4e3e-ba3b-e59b52ab9c91 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28161686-939c-45ac-8d25-11707044e261 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c22a2989-5c5a-40a3-a7f9-54f197ba171f phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3b037d3f-4523-499e-8780-692acdb069af phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9b6f1c23-b581-4f1d-8e34-b67fa7d57c6f phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d18c6786-53af-48a6-9485-458e3290cd7c phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67b34c19-0f60-4369-b51e-40e654028ea7 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5cd1487-3c0c-4413-8db5-6f96feb85dfe phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:893a96f3-c623-48bb-85e8-8ecdcd3607f7 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ad870b3-9eaa-434a-ad96-f4ba9d8415f6 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e92785ed-f5d0-4cf4-9427-643886a744ca phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:757be70b-0645-4f21-82cb-f259ab807069 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f081de9b-df6e-4dac-ae94-47517f1d8e73 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c82ec56-ab52-464d-b251-aa7e33087102 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7161fb0-d7fa-484a-8768-1063b72fcd31 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:066d6171-8478-4a14-8ba6-7ec2179e3b53 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b61a325e-ca92-4f5b-b092-8812e06f60cf phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c2face1-b912-4e0d-9ff3-8841b5b56796 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e6a4839-d31a-4ce7-a61a-e8768c1afb71 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b638ce5-bf07-47f7-b807-1f76747fd1c5 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bcd7ae12-c00f-486c-9cbf-f5e7c7274130 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a26bfdc1-30de-4d75-a2e8-44d61dd474d3 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9bc643e8-9724-4428-a377-2c6aed58e531 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3168d168-8bac-44f5-9bbf-8e985cab5c1f phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:ccd0ed72-8c04-4da6-a2fb-e1df40a173b2 phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f7b7bcff-f2df-4815-b0a3-24ad5b2a1946 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37951597 uuid:9f7e359d-d755-4081-a412-54548f2e3d60 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:192b464a-f070-4aab-931e-0be1d9326e5c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:dd388088-592f-4245-94d6-d4d4dedcda34 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9c00d3dd-c3e9-4f1a-82d8-79913602066b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:444fcfd7-77ff-4352-8c5f-a1567b57ec22 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4eac3511-bb0a-42d8-a7ec-4a84190f2d07 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bea3ff1d-59df-4f94-abe3-b4dca096251c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:75840e00-c14d-406d-b409-66d352c98475 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b486adac-e1c1-4245-a3de-107a48411914 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b0d2f6e-58ff-4e81-9672-866cf4c553fe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c9b40dcb-fee5-4345-9722-bfd97a385a02 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0995c742-b2ee-4549-97bb-457c87b3305e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b8ceab21-7551-4ca2-982f-9eac1b604383 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4bbb0360-fe6a-4641-963d-70783f11e59f phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c91476e-b48d-450f-943d-7de949392b09 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d6697ee5-20d0-4caf-81d4-4fcead9fbf3b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6354773c-9e77-45f2-92ce-3b251f86685c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:65e65275-ac68-4502-8f6f-2b598c6ba8d1 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2c214560-1168-495c-923c-9f94111c0224 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6a2487c1-3a1f-4ec2-a607-eefe16cec46e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a4536975-8b04-40e2-adcd-2078faa09cd1 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0da46b0-a0b4-41db-90bf-9c95c3add166 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7057678-6564-45d3-b6d5-7692167a1523 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:909e8daf-a156-439e-a9ea-c4f7582b70fe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e1da4f1-3385-4d8f-8d0d-1e8fbfeaa6c6 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6adc91fa-2f23-4a94-b8df-c5dd286743ea phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:efa62cb7-4492-4981-a754-1cd51820f133 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc43418c-63e5-4d37-95ff-fee014885d31 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22a5e662-07d4-4ddd-b4bb-c182c84694c3 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef3445b5-8de8-4963-872a-d10e64f60c55 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8a16bc6-1a0c-4252-ba0e-d60c4dad4380 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a556d827-dd76-49fb-bbde-6b6b9bba3fa4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6339fa36-afa3-429d-8d6d-670aff666f40 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:963568b5-4ab3-4feb-b024-e1eee3dcd009 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fda1893f-b90b-43bf-b99e-d8862934d174 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae75940a-baae-411e-9fdf-88fbd0f55137 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6d4a37f3-87a5-4498-baf7-8504944ad3da phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a13f30e4-b474-4a9e-a98d-42aeb87b0fec phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9d211f4b-64bf-4fcd-9e02-411a69d5627d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43bbf78f-65e6-472c-9942-26caf33c5ad4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:696b6ff8-8919-48b5-8c46-5f93d6ab8706 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89fd27a0-08be-460b-80dc-fe228b23ed01 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:654fde88-42f6-4700-ae11-662379417bb6 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed92bd8e-41bc-4612-b8f3-ef20a9587bfe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2521526f-1dc7-4bd7-96bf-845a6205a01d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6664652-30dc-4360-9307-bd9f9d13dab4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:706e5463-879a-4968-9376-f4222bf503cf phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37d1c030-51a8-4da9-99cd-f8799e2cff8c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4bb1590-e63c-4586-8851-6bf4f30a4e02 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9af746f-4a74-4e66-abdf-8c1dbcac82c9 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e830f415-aff5-413e-b374-a0a4b2113e16 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b98fbba-8aad-4004-b822-1c1934325ec6 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eb001cdd-e925-443e-a681-abe63ff893ec phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:763a777b-9e7e-497c-bb53-5708772f986a phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90095dd5-cdd0-4199-b4a1-00386bc7f0fb phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5b727cc1-e1a3-4f42-b87d-244d0107bc0b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b47bc169-a024-4002-807f-8f50ce99ec9b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c25dfe29-eab9-4146-83fe-78735f9efbf4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:713eaf46-07c6-4ce0-94be-3602e088c6f0 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ff7e341-42a1-46dd-bc2a-21ff2f7f7e27 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:81865a5b-5d96-4ae6-8a99-c81547da3440 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5e9e320-e0af-4e1e-a14f-9c82bf3f0cd4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f6b3ceea-f32f-41f2-9f27-bf3d44959ca9 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:24a7b6c0-7ede-489b-9417-314476d0a8bc phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8db59e34-a8de-485a-bf5a-c7737129e639 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1543dfc-8435-4e16-8d14-4e049563de4e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d01f60e7-cbd6-4b88-9014-7ec193a13292 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a95c4eae-b99a-4f38-be15-1ed45e1aa36d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d21a58f-6d29-44e8-a16c-436f133b6bdc phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ebda6d9b-c528-43a0-b2c1-9c98b194b8db phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13fe05f4-da72-48bb-b93a-7879a851b07b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e73ab979-f07a-4476-a196-0eb0c4b1dce3 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3040a52-bb26-413d-8a23-5aece80964af phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a47660e7-78c9-4bc4-bcbe-9be36e934077 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:25851a98-da89-43da-90be-1c35328ef645 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f37be74f-f2b3-45c9-8025-e48c042d54f0 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:03ca0c17-ca64-4fc3-be73-f4120b2f1dc6 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bc372a78-a4a5-4d13-b960-b9530b76e878 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1b69ffc3-6861-4b82-acce-ea18cc184733 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6059571f-d696-4f56-84ea-7a66b1fc8b42 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:89fae358-fff6-4699-85f5-9a44ad7e7b0c phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:77404d3d-cca0-44f2-90ed-875c31709e56 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6bbdada0-8522-4766-8359-32b6ccfbd786 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e68b3215-9048-4008-ab12-36df28c5c17d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:680826ff-c281-48b9-9d6a-749ff6440854 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a0a5d45d-946f-403e-a38f-5d51518c9398 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3c2d7623-8ce4-48e1-a537-8d7b8c7cc31f phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3b0552f8-b486-4f4e-89d8-f971a2a71f28 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb961986-96fa-4e25-bcfd-28831b0a811f phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9ed97c4-f30d-43d8-b4c9-77e41dba6d40 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6862dfde-d437-45fb-8ddc-0f2dc704aa15 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20e9bc0d-4776-4066-83a5-2d666d26b2d3 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5af7729-59f4-46b7-b9b3-0d16d6e8da93 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9663beae-a4f6-4f97-9ebc-d39ac4407474 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f839745b-063b-4702-a86e-51d3c4b2d85f phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:774cb71a-51ca-449d-8f41-eeb86c90d230 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94485e7b-7870-4b4c-ba12-02303d6365bb phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8faa4fa-59c8-4a6d-a7ac-f1f4f737ed0c phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7c95860-6433-44db-99b4-c7c9bd9ae1cb phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3bdf10ac-9edb-4c68-92c9-83d4f5fe2cef phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:240f3f63-cd1d-4f30-8bf6-1d4d8ca2ee46 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8760b453-96cf-43e5-9555-83cb246a9bcb phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1685904f-1e04-45f1-bb7a-bd8ae61e37db phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ed588f0-cb5b-4628-8563-31598391057c phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c3f16fd-85ab-4418-8e8c-f35a500da7f8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6124c654-dff6-4f2b-a2e6-50a76bcdd466 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9b013f6-ee6f-494a-b22c-da62c87594c2 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72ca3592-6338-447d-bb15-80fa801a6640 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3e0bcf4-341e-4305-9550-2024e2d41240 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8505d12f-bb8d-4034-9a39-3080410f2a0b phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f48d6d8-2c5c-4511-9742-cdc9ed54bfd2 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8403b968-dca5-4193-914b-ff1f77d14cb4 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c98beaf0-7d77-4518-85d1-f64b7fac10d0 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0bc6e8de-a3d9-498d-9ca2-549de08a4251 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:faaf6f3a-8f67-4600-86a6-382944801363 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15737697-c7ec-4e83-ae74-f775151aaa61 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23af367f-38de-45d6-a0ca-3d8ae4f855b7 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dfb62d26-ede3-4852-a426-6556e24cf09e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:887f9594-2666-4793-8992-e6f97d3518c8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:935735cd-675e-40e3-9d78-0caec8d334a1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37b13007-cdc7-4f58-a3aa-1857582e0f4e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd838148-6a4d-4304-b060-aac88248d2f0 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51ef1aeb-dc66-4b2d-86e5-c35fb9c378e6 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2c2154e-621b-4aab-a2ed-944d1311bc9e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c325d8ef-a3f6-4aa9-934c-b9a1380394f6 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8ba599fd-a199-4cbd-a65c-9ec46da33969 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4656feca-f4a4-436a-90cc-01b55c592ab9 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa9c45a0-8bfb-4a4d-b735-52d9ff129653 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17ca8400-61b1-4459-8807-1b169b9afd97 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a54e327-c1c7-498f-bd0b-1836aa46195b phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87659aba-ab85-476c-a7c2-fea182a8333d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:097f7696-08f6-4ee6-b003-5ccf42f5ebaf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2c46f914-aff0-428b-8a85-13a78a8eb42a phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e4e0638-3dee-4b50-a920-85aa0fcc61e6 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:01e17ec0-6d45-4bb6-9813-c547db8f457d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1463ad1-a6a9-49a5-a5b3-291bff01fcea phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8584bae6-f633-4852-b2c1-cf4c09788f03 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca49ac45-c420-424d-8c7a-d98fd6216111 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0dd1d50-a368-4e75-8d73-7696efbc2b4c phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a2a172e9-7f8f-405b-8126-1179d0d37573 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2c20437d-a1ec-478e-83c2-abda7a2f0e56 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a6da4214-b482-49ee-b44c-da49203c3084 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54ea3851-8325-4c4f-a9fe-7e9282577fdc phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:b4a68261-bedf-4ea2-a090-fd2132a17617 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:22017e12-d3d8-44da-a9b7-06e0ae9fa25f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:44a2db27-ed06-4e70-a4ea-d644d60c22a0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c9f44e93-c153-4822-9497-59c7b5daa3cf phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6eecd895-eb18-4366-ae83-483592940b1e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bfd0ff66-7de6-44f1-a5ee-5058e381d2b2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:09aacda4-a566-4536-a5ce-ea62c81b7b4f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3b49ce48-da2f-43e4-b8e9-cf8e82124b5e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5aeb4c7c-8651-461d-a10a-3b66d8654d3a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6eb6e12f-5dc0-45f2-9393-f97aaf856385 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:356a4620-b8df-4203-9366-494877e7d18a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fef8ecf4-3142-4b18-b129-bf99ee82589d phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:525582e4-c844-450e-ad12-6de6798cbfe6 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e202b4a5-8c26-4fca-933f-d37e9c843bef phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d55de99-6b25-4b06-832d-94ebb924510b phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a7ee26cb-dcad-44d0-b12c-d9bf87853624 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:63bc6fb0-de81-4007-9df1-25b3919f48f1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6d4d7e4-73eb-4f7c-9c62-9ddddc8a9658 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:970c3e92-c674-46b8-ad20-bf34980874c2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c6e38f2-6afe-45e8-9ea6-d586fe75a679 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60d59c20-1ced-42b3-9264-6382448308b0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e084917-a5e9-4da9-9f2b-2eb0aff7f057 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a74e9431-be29-4ef6-81df-64388186b22f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3717231d-323d-44a5-a2ae-51c240d042f9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e08bf08-41e6-4197-bf8c-9ba65b9ceeaf phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e96569c-4027-48ea-8333-eca28c5f4230 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e75f06fb-e72e-4df3-a6cf-7cc3d51fe55c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c84bc0a8-74f5-469d-948a-29c2cfff3d4f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a165a641-8583-4385-acfa-07acf881951e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:450d1012-bf00-4282-8e05-71a825048ba2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17a51533-1690-472e-a91b-54edc4d1d6fc phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d41c29a8-1fb4-4e21-b6ce-ac716d8704b3 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c572e49c-904a-4169-a8b7-e8451f7d3582 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e46d21b-d086-4fb6-ba9f-1fb5ed7f0aea phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47ebfc0e-b21f-4ca2-ab97-daaacb560be5 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ba13b8e-aaec-4135-8054-c75d7cc00190 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3a5d210-6df0-4c39-a335-9d7b308df59c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6acf0bd8-e6cd-498b-80fb-ea9053d08484 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14bbb84a-31a3-4ef7-81be-4ea429ad91bd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75a36c31-fdb0-43ea-add5-bfa1ede8c9b1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9fb7449d-9501-4b76-8f34-26170f5641c1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4752a3ad-4b92-40e9-9dfb-6c5f1e0ca6c0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5d4db82-27f2-4bc6-9f2e-28eb09806225 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b74e545-d138-407a-9781-70817ded7027 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:534f7666-a895-4279-87b3-041f50110813 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:887744a8-6f82-4053-87b0-9c58b38ae37a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:366bbfa0-f718-4d81-8c16-88d07dadcf26 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bfb3ef19-79bb-4c45-884a-60126e3bf3e7 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:59398346-9283-4944-a478-34aeecb2bd03 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67e6e0a5-263c-49f5-ae22-9c7bcc9d98d8 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eff37a0d-ea54-4b9b-b43e-8a2ed6e92a2d phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:16777a7c-e4c3-4679-b535-ee0467b18e2b phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50f274a9-4992-4edf-bfe0-16574415f9f1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58ee59ab-654b-4934-b312-4988d8258541 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d143671-78a7-4304-9f47-144102953a63 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af63eb46-01cb-477c-a0d6-6c2019749208 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:080144d7-d535-4333-b156-6fd13971a86a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9dcbc1b6-9f0a-4421-8d8a-070849d024e0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96777a8e-59bb-4e3f-99a2-5ff8118731ba phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8d28b703-eb60-4a1c-a6df-6d838c5b52e9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:961727a5-004b-476c-a267-dbc9079882e0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b00ce36d-a9d2-48c6-b790-f140d8918148 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:311b41f3-3b3e-4ac3-9f86-ca59bd86b050 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b103d657-8f6e-4d4c-8734-4590d417628c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ae61394-e6c7-4c55-a6bc-18cb7b3b52b2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff71561d-62c2-453c-b013-78c744b90253 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e47b6915-8aa0-4dc0-b8b0-29040ed0edfb phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a91edda-633d-4386-b63d-7be5d854ac98 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c5af11e7-a4cb-4f37-95d2-f30142ffa7f6 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e40508f-a7ae-47d0-99ce-38d467da6152 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:9fc7ab70-accc-47b2-bb27-d3dc77170378 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:b396fb5c-42e2-4137-895d-3fc49e5277c9 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3670143c-a535-47c0-bb52-00d4fef12df5 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f1dc2436-2d95-40bd-977c-12d9e8728d62 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6c7f24a7-0b33-40e3-97bb-589dbfc0d4cb phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d8423c0a-d942-4d96-88b7-7ccdbec92872 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3748b3b3-4790-4cd0-9503-326d0be215dc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5cf59740-87ea-4bf9-94d3-a0c2c7db80a6 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:37a8b35b-06af-4f93-b20d-ee33f1a928e7 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4500f3f6-fd5e-410e-adb5-b6ed42b99933 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e51f3199-9984-434f-9cbb-6017f9f3e647 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:907c5fa2-be9c-45c0-80f4-3b559cac15c2 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:75a0c2ea-576b-4a17-ad3f-bad07e811221 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5a922896-e516-4cf0-a676-7fa7e5c7e1b6 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:94cd501f-1df7-4608-8840-b02edfd1c089 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6f78762f-db0e-4f24-b66b-5e677e672fde phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:666b32bb-4a12-441f-8c50-8a8833f23c34 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4a8a2fd0-2e21-43ff-8963-61d6629733df phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:71ce2a07-f479-4e1d-97ff-51e7cfde98a5 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7b8da5e-2546-4a27-b75a-ead338b29323 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fb92911b-63c7-4fd9-ba58-9c64ee2e96eb phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cfe7d751-7ead-42dc-8733-9cc3ac5af11d phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eaec2f4c-3256-4466-9ebf-1c041da73b99 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8a40ed90-b783-46f2-aedd-bd661d0a49c1 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f4ec33e3-b4ff-4af0-8ecc-d1ec92221e2e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5bc9deb-4bd6-4576-bccb-c4500a12b718 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:10db9c1f-1a01-432e-93c4-13a29f94f3cc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1cead7cd-d13e-4fa5-bd0a-b0ba84cf2379 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a82ec634-e97e-4dbb-84f4-ee40e59066f1 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb88117a-541e-462e-9c5c-afd92ae81440 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f3ea6243-13a9-42af-aeca-1153cf773459 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:009b2076-b1d6-45c3-b2c6-ed51a2d6ed44 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:499f5914-1b4a-40fa-8f2f-f21d5010bc79 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:702708aa-b41c-4e8b-bf7c-0d80d6d16903 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:675cc0b7-6ba2-4937-a499-e42e90d7adc4 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b66b7ee4-a624-483c-baec-16ca8f371af1 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42ecb1fc-d5f8-43bc-b50b-af1d2e184c7e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc9d9fa7-17d9-42ae-a990-c9dfb841508e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82c6b070-4153-4c24-adca-14466b3cb2b6 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:172d7267-b8b0-4c2d-bb1e-2024abc6e98c phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67c4a405-e9d7-4474-8198-7e75ce3d3ace phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0188ca7d-ac3a-4fc5-9e63-464fc32fc801 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0097cb81-1239-4f2a-9f4e-6b131e641b1d phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc783b55-a32a-4a6f-8994-8c9b133c7e85 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4387b155-50d1-482c-ade0-6bfcf99f8c45 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a94fc97e-b5ad-40e2-932d-b8b15803dcf5 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73c4ecf7-e3cc-4c49-a54c-539e615fcbe1 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f83d52a8-2048-4f86-87c5-c290203cf328 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:400fc192-ea29-471c-bf7a-d70b6fa9456c phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36a7bb29-8e37-4213-bc59-175214b11ac0 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4a16999-443e-4d7b-8832-d694c1f2c7e4 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1a7a2dd-1621-4259-9100-8d6be3de3afc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:527925e2-0484-4bcf-9827-ab2930216705 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c919fc00-9913-41e5-8da1-f7c85e9733ab phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:818babfb-2a3b-492e-a137-6fd63b515c22 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1261f65b-eee5-474f-8bad-439a0fae536e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c254d423-414e-4a23-aec5-bda71051f4c4 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e9ffadc3-85ab-45c9-ad35-5dc386918526 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5055435c-5353-4517-9846-98587a91ed84 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13ef147e-df40-42a8-9b9f-3b53c46128eb phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66dcd3d2-4bfc-4afc-82b2-5a6855d34fd5 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f9848e3-9d86-41db-b2f6-21c5a003fdde phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:360b6a40-9466-4f44-9510-c6f83fe03c35 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9557255-5ae1-4e03-98b9-06c38b9ea3ae phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17715d18-4245-42df-a904-25714dd661ba phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1646893-0bfe-4355-824b-a1164b5b1ed7 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa427eda-a61c-4cf2-965d-e00de782b156 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1533b68-a09a-4906-a0d6-555dcaac65dc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:844b127b-7940-41d4-8e08-77514cdea799 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7abad3d-8d87-4d17-88c7-f3e02f3c07cc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6314170a-1aaf-4b4c-8e02-8dc266c3d870 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30170d48-793a-4be9-893c-2192925a2ce0 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:037a5dc6-b827-4462-b753-122c3cdbcd21 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5ef139f-15f2-4bb4-a3db-4c8163a3c2e8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14ec57a4-76c5-4d4c-8df9-abff18e130ad phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:05f934a5-2738-4312-93c2-77184ac055f8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:2b9708f2-42d5-48d4-a99f-b72f656ee661 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:46393be7-2e2b-464e-9f8d-536e9613d61b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a6ee7b0d-4abb-4be0-9967-0113ee83925b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b5066f7e-86b3-4e15-af1c-60fcb9a694e7 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:dfcbf721-7a64-4c66-9629-d4d5679f2319 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e6532df0-13bf-4ccc-978c-168153a3c78c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9d9be4a1-575d-4449-873a-7a16acfb7d69 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:93a865d5-398e-4761-b9ca-634739cfc990 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:797acba6-eb59-40bf-add7-e20fdead3bff phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:687946a0-c88c-454b-b643-62a1615789e9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e9dc73c0-2088-4a85-8cda-f4397355df9e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:778dbd61-cac2-4385-98bc-0711ee2b8a56 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:782fb48b-b414-4f61-8baa-6d22bf5f5e1a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d32f7a08-eb72-4f2d-bc3f-78f5390c90d8 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0766873d-835d-4adb-ad21-f02fb2c49a41 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42895b1c-d6c5-488e-805f-6d07e773e142 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f635eda1-e35c-481c-99f9-c3897854a80a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cb6b63c-b33d-4862-a5e2-d07fcb82df80 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e02f39b6-508b-45e3-91d3-a20096b43101 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:334ae0d8-a508-4c5f-874b-0f4932a4d0f9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf461afd-a017-4efb-8497-efc679e0af04 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5633855-5bfe-4361-b4b3-b0da2bccd486 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afd10cfc-fcb3-4258-9dea-9e3cef5da71b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f71ff303-0f9b-4597-932a-b4fcfbf729bf phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8a83dc3-c75d-4a60-aa32-05c1d2c655dd phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:216ed558-971a-4fb2-a69d-241d43930f1f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f612f66f-bf99-49b6-bec7-faac493712d5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79f670fa-4299-48ba-8904-d6f1ea468eb3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a42334da-775d-4de6-bffb-cd8b726acf81 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5001185-dde7-42ed-9cd1-bc506fa1d36d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:745d518f-7776-41e7-98ce-17283203ff7f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bab9d3e3-05fc-4aa4-9c80-82585a596d9b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9b2d656a-d774-46b7-a8a5-578cc5c96a3c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93b682a1-1833-45bb-b2b0-afed769d3cdf phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e78ba21a-2218-4d5d-8230-cff6e52ed69d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0663d461-6494-4d56-bf4e-1f886dde9ec5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef2007d1-980d-4047-b2cc-152934946d3e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dbfcce4e-d066-4421-80f6-ed4fee7faffb phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc2cec73-3c83-41ad-b983-bd7f0572ebb3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f93c4351-c91e-44ac-a328-797c20276db8 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7cba8927-6bb2-430b-add4-ba5358395329 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:121f7f3b-dde9-48f3-aa47-2e6b4f09fccb phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ed73c77-c73f-4b49-9d54-84749cad1ba9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2c143a04-3877-49cd-8424-7e48aae65d81 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5bcc9288-869d-4e01-a697-37666882e867 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:316984ad-42f1-43f7-869c-c5d39226b512 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f870147-419a-4b96-9326-cd97111606f1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3da8f977-e6c6-4a1f-9432-f02011010e4f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b738bc6b-3d2c-4cfe-b4fe-25a952b7c6c1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fec730e7-284f-4ee7-8df5-10ca7504a68a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47661416-b19e-4d15-b971-5a139d2379ec phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c3e77c3-26d6-4b16-b069-e1a88a291bf0 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61dda144-610c-4f1d-b769-32e78eaaa45c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c650eda9-6e76-44a3-a6d8-402dc213431c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c0ceca7-3084-47e2-8200-86b364f2c614 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e021a502-419b-4365-bb31-63c314ae4795 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e652ac9e-f34b-4389-b0d7-c234de34065e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56ca2ba4-8980-4672-a745-ff44e1bfcd37 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6500621e-8827-45ee-bc72-69f3de879f22 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2c54cc1c-08a3-465b-aa25-b49b5c93cb2c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca5a4b70-eb4b-4fb7-89c4-807487ca463c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:edf819d3-32f3-4b1b-9225-b1500895a441 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5cc9c174-66ca-4070-b880-1508986faddb phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6200c982-0ac1-4648-a781-1a1b1bb3daab phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:647dc975-7e32-4634-8c18-6b44ca116dfe phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:80b4c79e-f499-47ee-980c-b8da2f761407 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:01e63d92-67e5-4e70-9e40-43b8afc6041c phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:02345b15-4e25-41ff-8a66-eae9b7f6ca22 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8891ef7-160d-4f4e-8422-71cd97f4b568 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a236cf12-2310-44fd-abb9-d7f815f1a9c8 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:43c50f5a-61c9-4941-a35a-4b273d56d481 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:367d06fb-e100-4715-8650-d0246077bb1d phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08104bdd-59f4-4a7a-9660-2f3bdefb7c1e phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d4774d7-d0c2-4360-aabe-5d154fe5dbb2 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e97ffb1-3b75-4e9d-906c-17e3afa32e56 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:abbe1294-747c-4213-8713-44e62f3e13c5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1463565-d37e-40bd-8cc5-2798d1a727fb phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c45852d-a22c-4d5d-b8db-8d874443711c phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5d8fb93e-5bcc-4cd5-82dd-c536dcc21b0a phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eab408a0-037b-43c1-9460-e868afa4cc5d phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd5a32a2-e6d3-4f97-81a6-fac1a375b5db phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:92985b74-ab9a-4262-a5dc-a06e9d97cddc phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:182b0cb6-c722-4b45-a02c-ea8cd8f0da55 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4fa29996-ee72-44ec-9563-28d2d07acfb2 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5b74842-4bff-4125-8208-9de3e66e9d89 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b83b4dd4-9d67-4534-897b-fc5d606147de phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4121277b-c03c-4e9c-bf5c-7e392465ef97 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9532551-f780-49da-91ff-25065383f312 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65d0069b-fb39-4a17-9e11-5cd629735f44 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1c94c89-547a-4941-ba69-9a3023ed7976 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30c2132d-195d-4b3c-80a2-c03bbcdae11e phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa38851f-6192-4a22-b440-b42f7c043f02 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4df6ad47-9fb5-4e27-96d4-1d65a3aec4c6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e91e487-f468-41fb-8b85-5afa2f265315 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:71f4663a-c781-4e4c-9b1d-d381fd3692b5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d3f35bb-4afb-4b64-a16e-eec212875587 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8917897-36a7-4047-a9ff-a04c4c6dcfd6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34828c49-71a5-4f01-a3a0-6216c14f7eff phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2b260b67-48a4-42b0-9b35-eac4c548fd76 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47bd7f4b-061b-412d-bb32-66be0bbcf1a9 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:da77afda-e8bb-4497-a23d-612db95e8db9 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0dcc3682-33b0-4c79-8bd8-f88612d2b764 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:896a145a-3adb-46d4-8558-645f60eafc13 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a42602a-c2f0-42fa-a90d-4e14aee481c5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b0b401d-66fd-4a6c-a16c-c4cbd2d4ce99 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c644d6d-4e9e-4928-99db-1ed811fc1fe6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94550fa7-aaaa-4e3e-9e75-6ace1f8f47ab phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df9954d9-8117-472f-bb3e-e2c9f687ec47 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c632f1a-a063-4c00-b676-486fd37f7eda phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5fbf04d-95a6-4199-af89-e3f312026535 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b7ffb9d-a197-478c-9052-cfee4f0bdda7 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:dd645872-a916-4a6b-a3d4-28ef3c7b10ab phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:b2c6aa65-78cb-404b-ac66-bf59a9f52166 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0ea80755-82cc-4f94-84f8-5ce924817b01 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e50cd209-c0bf-427d-b9de-921f6e2e7a38 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a833babc-228c-426f-a35e-b89e1ca7b3bb phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9ea07f2-2e2f-4c28-9b61-f4607ee57b90 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2b4b4df3-fb0d-4016-a678-590075467389 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bddf0e94-3af8-4251-af2e-ac7bc9e5d7ac phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9decf8d1-0099-4c3e-9d96-888d72a8143f phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65f28e79-eb18-4190-928b-da447481c313 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15a2a43c-613f-41ff-b41f-51286ddbecbe phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a7dabee-1ec0-4d3c-bc08-ee9b335fdeea phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5860611f-a243-48f6-95da-4a304f9de83e phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e27839b-3190-4815-b1ba-a0378fcbadee phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f90fe336-68c5-4073-acf1-3c3b9f0a035c phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a084c0a-411b-45c7-a04e-a82d8945736c phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5d4dedfe-9bb7-433e-addb-6f893adbfcbe phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:64fde5e3-afa2-47d3-9c7f-a424a84d561b phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd0dcf2e-da4f-49dc-ab11-8d47dbcecc1b phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c021d392-9d9f-4d3c-8b1d-747fa9dbaa94 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4ae17ed-2d8a-4feb-94d6-1576a0052f24 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5eddefc-a820-495e-aa3b-0531e59346d9 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b0ac3b5-5822-4d83-be0e-f88c03210fcf phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:752d2927-7478-45a0-89ce-e52cf28a21d3 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7be9c223-846c-44d1-a2b0-8d31076c897b phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67d3d713-2746-4e86-85c6-602a1eaa990d phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b79a8e70-649f-4955-9e47-27cf751811eb phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85f86951-50e4-40fc-b610-7c3fb1a9c8ae phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2b6c0a7-1cd1-478e-bbee-062b48bf7bf6 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9b1e5195-a917-4f70-bb46-66096555824a phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90b22b3a-1acd-430c-91bc-6d813d0c0f24 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc0b81e9-f96d-45d9-96f4-c2387e662930 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9876392a-33bb-469b-ab3e-d5d361b6b14e phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25051a0e-c260-4efb-b99a-75a421f079b7 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e07f59d-59d4-4843-8202-c3d2d424079f phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:212d9da2-cfd0-4dc0-b48d-f869044e14f6 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ebf293e-928c-4211-8651-aeb614ace629 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:74d87f8e-b7ee-45b8-89b9-982ade70dace phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eca5a452-8380-4f01-82fd-d8cd2c848c43 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31caafe7-14ad-4078-8ac3-5a00d397d15f phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a599c878-a8a8-41a9-b59f-3c27ee4004c9 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2eb6035a-386d-4edc-a080-63f7455c1ef7 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4c2dbc7-7910-40bf-9d7e-d7b29ddd870d phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:096748a0-0425-4da8-be65-bfec05e83688 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:69186cba-5297-44f6-af25-c2ee15546c04 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6fb6ef83-98ce-460b-b849-22f648cc66aa phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1409cb71-a29a-44d0-a7ae-06b68dd0078b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:488730d9-4b0f-45cb-ba84-de888cdb0ddb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6bd97c9b-67dc-4011-b54a-e608ffaa2953 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:87fc9f21-5ac4-4186-b3ed-4bf261dfc49d phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:52072e4d-123d-4c8c-a7e0-09642eb5b810 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:effd3136-b5ba-4e11-9210-b2ff2631bb36 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ad89e770-5e36-4f93-a477-2769c5654162 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:af5dfce5-65d8-4c58-89b3-973afe8a2268 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d2524162-3d8b-4f06-b3be-22629c15a45f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b8351850-3b91-4e30-a695-320c6ddba558 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:12c5b914-1ca0-4b8f-acc5-f13b02606e8e phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d59af8c3-6957-45e4-b776-673a9ffe9bc9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1e59312d-a684-483d-9aa9-2726a8747fc9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e67bb87e-404b-492b-b4e2-4dc1bf5d5589 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6a5ed797-6707-41d7-8f99-8e7a02a7c396 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c34f8d1c-4b7d-4730-a034-6d6c9552adc6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0e715aa7-947b-474b-a343-ae6ea5b6e1a9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:38eae4bb-5191-4109-80eb-59db2ee12402 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8d2876f-33cf-4300-af1f-735e52d83229 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:385171da-e3ef-48f3-9870-0896230eddba phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ffb908ec-c256-4de8-8501-2137173df000 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f12bbd63-f974-4cda-b131-19d60f1bdcba phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e01d7df-01c6-4713-82a1-2c4bf1a71c0e phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2cf8f7e-af7d-4c23-8306-b7631956ae89 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2bb6f153-4ac1-468f-9827-2fd173dfa2cb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca0233f2-6052-4b4c-b0a2-299e809369d1 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cfbb73f4-fc79-4486-8f73-0b6ffc1d3de2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8e98a3f-34c7-4b79-8764-a0b805ef4957 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:52e8f8bb-0771-4e8c-9c3d-3c79789e8d31 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a44e44eb-cad9-48cc-a5f9-58601f5ea59b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4dced49-9e54-4286-ac59-698f0e543084 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eaf57b96-96eb-4a76-a0ea-7ad885cce9d4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e9b2aae9-b22d-48d4-9875-51dbf5833d4b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67d099bd-dda2-41c1-85a4-df37b659243d phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c5a7850-5b20-4b5b-9cdd-1e46d85c4ec5 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5918a267-c55e-47cf-9133-cc9f85e7589e phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb607be4-2aa5-42a3-9e78-3c352d4a760f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44054ae4-9419-405d-96c3-459ce218a351 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d53d11e-b8b1-47a4-8201-e875136c2e4b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1544d3f-0033-4f9b-bc4a-dd952f16be0f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5d88584-1dd2-462f-900f-f773d28eaac5 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ca9d76f-6643-4ea9-95aa-0dbfdcbff4cb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f735b523-e2b8-4373-938c-e8aa6c5a83a4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2c4bb956-19ef-4b51-9f8a-2b8bed1566a1 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5c8d58a-ccf8-4aac-816d-ee08d65b0ffb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37f8953b-9714-499f-be2c-d0ceb6d48656 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48da9166-7b15-4ccf-8570-aec417a5a05a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17ecd00d-f896-4e01-9e70-9911e851ce51 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:489f5130-710d-4739-bf9b-87a833a5df95 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:177e8ed4-33a4-4a3f-a8df-c53ea3c055b6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e1055ee-a69a-44d0-a5e9-e0fa900c19c6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a204a426-188e-4df6-b8ba-b691b482b5ce phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48e1282f-94a7-44bc-91ea-7407818bd2c5 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2830998e-6e31-4a33-9691-7851ae509328 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:886353dd-e5d8-49d3-958b-c3429603d1ea phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d228ef56-3df7-4823-b509-2ea7c3706198 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b726bf9-ef54-4962-9bee-3441bc680028 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc0f4f89-45d2-4de1-9189-996b62469d80 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f36ce08-8db4-4f17-a1f8-929987866f7c phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3bb5c908-522a-44af-85ca-f4e66b6e750c phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ede76855-c1be-473d-9b40-3995393c0fbc phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d0003474-1806-4d30-9118-b162f60d0339 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf354018-87ac-49d6-a2ef-30afa5665d87 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:144b3dc8-768c-4666-a495-0a2e012130ee phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48e6f652-1e27-451f-af86-c4fb86c3d5c6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d6c4c3f-1c67-41d7-8bdd-7a2a1388633e phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28ed861a-9719-47d3-8e38-78508da0b38b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fe6fc538-5f43-4581-b4d9-9a53ec08e945 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c066e51c-771c-468c-989f-d9a624f862c1 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:16487707-5eba-4cf3-9a1d-8b7f137a3aef phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b525ea0-bbb1-47cd-b1f4-847f60460b42 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f70a8579-e9dd-48ec-944f-fb0539cff863 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:4eb0ba57-d957-49df-85c7-7a100dc357db phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:085b175f-cc55-4ab3-a860-22d4b74770b0 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2eba4cc6-3bc1-458d-a524-afc4fd76f283 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ae55d741-098e-4cfe-ac2d-ef3730aa8aaa phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ed7d679d-f574-4903-8c53-8334f11e93c4 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:959ce1a3-137c-4ffb-a577-6097afdf1e4b phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:be3929fc-c532-4be1-a3da-508e83023bf7 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:791fc3b9-2b31-4edc-855b-8b402a4eb62e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7fc2fa64-d71d-4c77-873a-b1b82a3dc561 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:511d396d-995a-4fde-a1dc-de323e4c6f8e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b4ea89a-30fb-4ef2-ba2b-db7e71f7f490 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3dc3a259-a109-4e4b-8a73-85f27f6a255c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:41f8ad09-0dbd-4a41-9902-a907a6ea46af phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eef0801c-c964-4b3a-9aaa-e80c160a331b phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2cf957e2-49a7-4d66-b17f-bb971393c3d2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a36220b1-3364-4b80-8b7c-e774edf95acd phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:239106cc-51bf-495a-a13a-ca94a2e2215f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:dac04b17-a867-47d0-ad4a-79c86b66b2b2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:38bafe4e-acd5-4bfe-80a8-575797c05f02 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2bb1bf2b-10f1-47ca-996e-bf8764b6ab45 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4662909d-a23f-49e3-bf1a-20c54580e950 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e4344b94-2a2c-4e66-b134-93e3838d6648 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6823366-76cd-443e-bd6c-7b5f2ee49c13 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:53be0bff-cd86-4fa6-abe1-f1ddceee4cf3 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c17e6673-b7ef-4f5a-b5d2-47760f00e7cf phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6184486c-3ee2-46c7-ad1a-bc4784d14e35 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b108f32d-2eac-4d7c-97af-b8a934058c75 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3878d368-4d70-469c-9940-79cf10cad8cf phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc707e0e-e105-4158-b01c-b33f58aceea9 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a91315b-1ff6-4684-8107-398ef1c35049 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:288c19d4-23e1-4450-a454-ced7a2564539 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b84b293-db77-41ee-a20a-8f6809e76d82 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91ad8100-4906-4392-84ae-96b918800a3e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c755d040-60ff-4ef3-9b72-1f2e0c2b783a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc9df376-ca40-4441-9945-a910dd6742c4 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b9cca6e-54a5-4f10-9b7e-e5b823381030 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1921b7d5-abb6-4696-af05-d85055ec8fcf phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:982d8023-9668-4d82-bec9-26cfb3b54443 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41f900d7-121c-4b5b-8a49-f5d7a7248440 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0bad6784-20c6-4f52-9713-33ab045fa81f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b44fbb9-e3e5-4e66-ab82-a2248d1e9f67 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5f9502c-a12c-4975-9f80-1eaa7fd4a3c8 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4421b1a8-9b08-4903-9c77-67647d15f65d phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf46d379-5591-4517-95df-06970da25f5f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1417bde-36be-408a-9739-df660a1aeedc phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7b210a9-adc3-4fda-8a61-ed4d34733d79 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7e3ca7b-dbd1-4fdb-b1b0-09287a2bd962 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f653b86-9649-4564-9d95-add238d7497d phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6d3f205c-3dfb-43dc-8dea-6436733c0c69 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:98e3c39c-67d4-40c5-a690-c3687ba96d85 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4695a6ea-4b07-440e-9b18-c314fc6be142 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8171409d-e53a-4211-82a7-5b18c4772912 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6aae2165-ce32-46c8-81ae-d949550a5db0 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48c3061f-2440-4ec1-a1fa-43541d63f0d2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06513201-2f63-478b-96ca-3bbf6ee5f7ff phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:95609fb2-6004-4150-81d9-5df9484760f8 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0764955-e59f-4284-bf77-60a912ce16f9 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ccc4bdc6-7e64-4bd1-a786-6070a70043c2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91bd895c-55e6-4b4b-a49c-56a11cbf7f38 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a37570c-a72a-4464-9514-e6ffd8f0919b phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a5e7b7c-ffa5-42bd-a335-1a4d51da303e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70c46fa2-0d32-4e25-9b38-f44889300ff4 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40904635-b58d-4f78-91f9-efc7e1ffb0d9 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6972b63e-171b-4e5a-ba33-7d7e03165cab phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c74ce05-1348-4a8f-af2c-902e9cc7be5f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:daead958-981c-41cf-93d0-d8ba68f63ab6 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d6ef4f-af01-4e02-98ea-13b3caaeaa3a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e65bd079-a757-403e-9d2e-847319f5b62d phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:8b37f6e6-2046-4931-9622-70b4ca4e12fb phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:356534d2-b03d-42f4-add2-5bc509702ac1 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:891b2e70-7485-49df-a7b3-9a3ea9e826d5 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:520176f3-e729-4e45-90b1-b1a3522622f9 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ee229f4-13e3-45c2-83b3-808c69a0a18c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fd743c0a-82d1-4a5c-a12f-41443ef752f1 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2fcfc31e-550b-46f9-9569-b31285ce4339 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c51e2d91-546f-4bb3-8128-cf7d4bc7665f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:db32a5b6-aba5-4c6e-8638-7e4cbd23eeb6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e947793a-f144-4d8d-9ebe-55b025931f8b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eab2531d-630e-4ded-b5c3-e9dfe822c758 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4753d8d3-b08d-4669-aabb-edefe528c037 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:16d4ea9b-8780-4420-a684-3e9247321a19 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:225cd9d6-ab9d-4ed1-acc6-cf148740968d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bab2384b-cc38-476a-8185-144a3f220a0f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:888f61f8-f03e-48f1-acb7-38dc3da989c1 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:82f5fedc-822b-483b-a0c8-b8dcd16dc478 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c6f02e7-8f21-4b29-bd97-96145c54c300 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6bc15ec8-7ed9-45d8-9f2b-f2ad51c85f16 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d1650f3b-6799-4fcb-b23b-135a6a808e1f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8ff3ae5-a75d-4e5c-b402-fc3129f39777 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d83698af-008d-4aab-aca2-691165057b79 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b9850340-c0f4-4c6b-a484-5f71365be2d6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0bd9f87f-6cbf-4b03-a766-3a9e72a1e048 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3928217b-19f2-40d6-b49c-bfa473c86677 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:59880628-e260-4a23-9b23-898974035063 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:488fe139-f7ff-4d70-bce0-8994921ec814 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:612664b0-7252-4f58-95cc-60eaacae0f0b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:925f042d-b3c0-4692-9574-9fbaf0d2f1f9 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b64e979-ebd9-401d-82d4-1484f3230a9e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d260a21-b0a1-4138-b510-9e8f4fc3c811 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50313599-a120-40a9-ab44-b0819a0f2715 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5010e0d4-32fd-4df5-be65-6b748ff7be1f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b468d81-2b0a-4304-940d-86ffdcde443f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e103290-eac8-4a42-b8a9-958307b8f73e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e26e5ce9-a8be-4ae0-b08f-b969c4e5aead phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9c730ed9-e749-45f1-8a70-18661a8a1439 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e40ad19c-7d4d-4c62-94b3-0f41a9565d87 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:26c47f33-0372-4c42-800b-8368db9862c3 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d82176b9-952b-40d0-b62c-1fd39b3a8af8 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e9eefeb-366d-4884-9a23-c9b8484d6cdb phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab2bb857-64fe-4db6-8873-9924bf4b4fe1 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:949ec330-9580-4ee8-a5f1-68bf0b5e06fe phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f2685d4f-7ee0-4726-a7e0-ec069f01064d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7ffcee5-d994-4eb2-a329-80a4712fff2b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5739c40-28a0-4e65-90cb-f45fdb215278 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adaecf84-44c2-4485-96a3-4aff73a971bc phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7ecb09b-7eb2-4759-8d9a-118dc3740489 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0390915-5666-4980-97ac-98d1a6b36ec7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5fe7e26-ae55-4078-9392-6c69fa5b59b7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c0fdc5c-4ef7-4fb2-ba2c-cd6341b06c25 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c66b5329-7876-405c-9b14-f7adc7efdd51 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:edab7d17-d48e-434f-9c82-64a5145e611d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ff4a65c-25e6-4079-8882-09d826967c6a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a81e6d8f-85ca-4df1-a2c3-46b5fa1b5119 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8bcaaa85-a10b-4db2-b5e2-ab3655eb46ed phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:644428ec-7b73-4871-9abc-c1c275341f4d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c5a00ea-f5a7-4f44-9029-01055eb733f8 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:209b0bad-eefd-4854-ab6a-e5ce288fc82e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80b22f0c-0790-495d-876a-eaa2d3d60781 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:257f65d6-c2be-480f-acab-033284bd38d2 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e55c6bda-8057-4a5f-b8ec-d10dc4cce06c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:910f0729-807b-4a1e-bb0b-e21ad8145bc9 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a7b8e8f6-43dd-4b93-b30f-5598c3b2c8c5 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:19b0988c-6ed2-4bd7-822a-66df7c318f12 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f882cf2-e8a2-48a2-b7de-362f34a4fd64 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f6b9689-7bbf-4348-a8a4-6c353647b39f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c26f05e-2360-4c16-8cc6-22f11ac28d22 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86ac4a7d-1159-4c41-86c1-5c5cf85b8f8e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7517489b-6d15-4dfc-96a7-b2dc799f01de phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0325d8fb-c6e1-40d1-8c9d-2d50f40b3293 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:12ebe7c4-8dda-4751-b5ee-474f2e75680f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:5ad8a6ed-3a8e-43cb-a8d7-13ddf0ed63f6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37951597 uuid:79291106-164b-4301-a0f6-3b896a1f9a77 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b2174b0-3b66-46b1-a6ff-1e03409daf21 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:64f6a110-f388-45be-ae7b-d508f637fb31 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6f6de0f1-be15-435e-8ef9-3a910cf80f04 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b60cc3cb-6f9f-4d52-9d7c-08fbe6c8c337 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ca057dc0-bf42-4352-ad94-4a1ea96d80f8 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b3a0a49e-8b2f-40b3-9b29-770695e79a6f phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c5ae28de-ee03-45b1-b3cd-fdd608a27f79 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2b1ca02a-5f58-4593-b3b7-92ac63c482f1 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:77444370-23e0-410a-8846-9a7e09bf33db phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:438a5589-4986-4f5f-a58b-0b180e6e345e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0fe7cbcb-9ceb-4d33-b14d-ce3437a3ebdf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:183f67e2-5de4-489d-863d-918fbea3ae2d phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d57427b1-3c41-4148-8756-fb40d8d0c724 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:29ced1d9-8cb1-46f4-aa51-4d77163fdbaf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c4a091c-8117-4a56-acb4-9baca1db9501 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ee555f4-9f8e-4af0-8bd7-1b290e344e55 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f48c4a25-606a-4894-96a3-943846b4a12a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a9cf3fc5-fa53-45da-b407-e00d8c613b31 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a4151769-366c-49d8-957b-02b18825f37d phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f48e5aa5-61db-407e-b9a9-297f95c5b45e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:845373eb-122c-4f24-8482-1b6838077e6e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:338a1ee7-455e-4409-88be-a32f75cd6b79 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9d2fccaa-3124-4f05-8f9a-61ac9d2b52f6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31190172-6737-49c5-a61b-61571815d0b4 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b185865e-633c-4923-bcab-7de4cefd8687 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43778aca-6ee0-4ed2-9756-7a7b8ba28144 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f507b08d-eeba-4c7f-8463-587b5f978a3f phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4fdbb66-042e-406f-b50b-07cf800bddf2 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76ecefc8-d620-4a25-a68e-97ceba61f4c3 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0cea7e02-e0cd-4cdf-9ea6-09b1ef721a35 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:971283ec-4780-4dd5-8ff0-389aa9300c1a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5940535f-9342-4521-954c-51833f2f7a9c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ea6034b6-0988-45e1-be7c-0cfd12b1935c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a55177ab-4b64-4e5b-88a8-eb54b1cc49ef phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08fb27d3-f74a-4070-be52-7608ffd241e8 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76e36007-1ec8-4c4e-a6dc-5b0b936c2acb phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4bc36c5a-065c-43e1-8da0-840a59f109f6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e9cf9d41-e225-4652-81ee-e275c301f9d5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:348cee94-de1a-4d90-8d80-2fe1c2fbd84c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5b4b385b-1314-4047-81fe-c3c390910fa6 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d669edc8-1710-439b-8022-c1946cfc10e5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c22efdce-2196-4387-b4a0-5da4739e3ee9 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9f5c292-c19f-4ad2-bbd1-aa74bf64938e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:422eb7d8-9213-461a-881d-b5f017ff93f8 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cd29dba-27e1-4a3a-a5b7-b83d359bfd52 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:218fcc72-263f-45b8-b6fd-2771961b1037 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d1647e4-3676-4a4a-b81e-5ee4b9db7035 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7aaaffc-e028-470a-b30b-8dc22b15847e phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4aac6b8-e877-49c4-97ba-cb4b102748d4 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d5f27d-92a3-4a0d-a6c8-2d1a74017361 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53ecb314-55f7-4fcb-9a47-142f0993e884 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e0adbbe-4b36-4f69-a623-7a1df38d898a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d42d55a4-7fb3-4106-ba2b-5901a70b72c5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:18cee32d-8b4c-4c4b-beef-e6f3e5ef77bf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:12cd83cf-8d26-4f69-b101-520b84dd789f phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b008fbd-878a-463d-948e-4e985a2beacf phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0b4825b-438b-4792-a335-000d43b39565 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ba6ab50-7d3a-486f-b6ce-00d128269f25 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0bf4347-0a0b-492a-9e24-a80c53456d4c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ada58b45-0770-4352-af8c-aa5dc5d22ca5 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:579efb8e-aa9f-4852-99f4-88a57025acb4 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d09ea80-c16b-4f59-ac93-4a5be5bae993 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9adfb399-b5ca-4566-a7c7-ed02f45ca1ea phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28bf6450-83c1-4c2f-9008-6fe1b68f33d7 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a1c741d4-7f6b-49f8-b2d5-81a0ff0b872c phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d78e81b-241d-45df-9e43-57be6244e310 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:167556e4-5252-43c7-89a3-1f87d7968a1a phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c1780ad-65e5-4fec-95b5-4ad6503e67ae phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa85d9eb-b996-4a29-86dc-a7f0c9f8bac0 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4d8f5bd-cfdf-4a31-add2-f99b9092be64 phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c9dd942c-88fe-4e9d-ac13-735e1b5f6ead phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:9cbe4ff0-553d-4a35-bb65-d4e1696cf137 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37951597 uuid:a7cea7a8-22ce-4dc0-8c5b-71486ae09ff7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:84c41487-b042-4870-b9e4-8152654f75d5 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:55f87f50-408d-4871-8eea-1d2d25545e93 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e32133a5-1b59-4f2b-a068-f2bd30633ec7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7f00ba2-aefa-4a74-9234-3db06cc69e86 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6ea481d1-884a-4e84-abf8-8591f757175a phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5ab83e0d-c4e3-42f2-97d6-845c05ea8f2f phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:40a6980d-529a-45c9-87d2-b64e6f980955 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a22c1c60-fa20-4f5f-b8a9-c4459949db7a phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9fbe8216-fca0-4f71-86fe-2beb66b41f9c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ad8e9fc4-db40-4067-8f3b-189e8ebf2c0c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c6e07b04-afe0-4795-876b-3001612d1e97 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f0cd6145-0355-497c-864f-a199fb36ea99 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ab9f5723-e66c-4932-999c-75f2638b3e61 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e922fa44-4c06-405c-9172-105327c55e5f phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e6510b95-0d15-41b8-9cd6-dbd7d5c4e8b8 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:01e4899f-bc13-4870-b46f-c7627b3fd43c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2e2501ff-e696-4125-baa9-8622278dfa1f phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c361d6da-f331-4ac6-a199-2dff68412f81 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4ca32b8c-4ba1-4890-aa65-8440d19d4b73 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:46417d7e-436b-41b2-ab3e-7bd1b9d46135 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0098693d-2dcf-4cb7-8158-4954400b5e97 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2e01cd4-b149-4ad9-9e8a-cbe1f4dbc705 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba2a13e2-c6dd-48ab-8023-f072ac0e6811 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1cd6a6ac-0f2e-4ae8-bf15-b12786a10667 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f289d1f-b5fc-4283-951b-70e525ebeb53 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ea6d833-dc15-4ee6-9e8a-8178d5c196ee phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dbfa87ac-db6a-41d9-a42d-dd3cef7b61ce phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20dd3a90-d4a8-4478-aa3e-71a62f544d9b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5337f81d-4247-4768-b1fb-05ccdeb98161 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cca1df6d-9d33-47d0-9114-36bc2027f23e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7d3450a-2083-4791-9051-b7d4a9e8fcfa phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51463d32-1082-442a-a1e0-9ac38ed38228 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:02b5eb93-8177-431c-afa5-383ed5fcd7e5 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70ac4e70-b56a-439a-b824-304a35be86fe phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0aee682-a0f2-4cb6-88f9-f04b3318c260 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6048ff5b-a5ef-46c8-a532-d3121bb9f375 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a794b1a0-7405-4905-9851-c6688e9d7c9c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed350d75-777d-4af6-9823-9a23a02431e0 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0dac257f-41d5-459b-b030-454ad8babc15 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6bd8d859-f49f-4565-8436-2d40ede2bc9b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:528b7dbf-73f9-4d97-b239-6cf25a309593 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc973c94-3e35-4a05-a603-60d13f2ec106 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:441a3948-2ab8-48aa-bf8c-19f60d6ce7ef phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b97fba6-1564-46d1-91f3-75a3f43fe4fb phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b458c186-1259-4fe4-92a6-12107bd6e670 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae1912e0-5aa1-4840-b042-8ad042ec9ea5 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:446cbefd-c0cb-44cc-9cf0-c6a682671fe6 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:10512872-4616-4bcf-ac92-4235709a6008 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd7a2ba0-41aa-445f-8865-dee7537183c3 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f2e960dc-f7b4-42ca-a83b-4632917c8105 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b41efb71-fda2-4e2b-b28d-8d700fabf9f4 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:692cac44-f2fc-4f38-a43e-4a64eecc226d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8759d3ca-90d8-41a6-b8b3-3a06e6e3d2b7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9984ad1d-3de4-4bb0-be50-ecdcaee9a77b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5bff0cf3-d738-402e-928d-fea4a1e30c89 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b185a09d-028f-48bb-84f2-bc65a1375277 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7d61eab-de84-4aaa-8746-474664904097 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90f29fec-3fde-454a-8639-751167cb1c16 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c91851b0-bef7-4f37-ba85-7e67e687d07d phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aacdc8a5-36b5-42b4-a75a-a2b216e0df0c phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80f9692c-792a-4ccf-be56-9b41ad64b8e2 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc03cde6-783d-4406-8947-ba766fd3ff2e phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c013bc1b-85dc-406b-bee8-218913c392f7 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd8db8e2-ba31-4a5b-94c9-2e04ea772b94 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:88883681-d268-40ee-bc50-c312337e4063 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aba4b382-d730-4743-9b28-d342da981613 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f7715cb-5616-44be-a5cb-9f9e0423f18a phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97efd31a-de8b-496d-9527-9a106a0356ee phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e99c5357-334e-48d7-b258-a1f7754beeb1 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4e42f16-1491-4b07-99ff-c84e2931b2c2 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a500ee24-7bc9-41dd-a3f5-7d1c933e8b44 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:867b7d02-d87b-4b63-bb0e-05f442944b5a phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47df2470-032e-48ff-a9d8-9e03fe74d312 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d61f54f4-d11e-4543-bfe3-a5d9b6b1ddc2 phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f0eaa4a2-5e14-45b4-84f1-4df66681136b phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:2b64cfb2-64f0-4562-a4b9-62fbcc455c02 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ca603b9-d8f4-4c63-b226-b5a38bc7b8b2 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:aafe5629-2d99-4ecb-83a6-3e23a8eb1e65 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:14663be3-f431-4928-8152-a43e01932a2a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2a8864aa-5d41-4edb-8a98-87201957f9c7 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cb4e941a-5dea-4e38-b9c7-282fcb097ebf phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:74f8a8cf-e701-4972-a1e8-e4bc268b289b phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e6fe4389-51aa-47e0-a84b-9e7e6a8357dd phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aefa7f3e-2fe2-4808-9bbe-c548fe94c37a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91a8f55e-ba27-424a-9beb-330bd6c06553 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06a6eaa1-d0ed-4804-b8dc-7d8d0cbcb42a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b38b840-9f3a-488e-a232-47a78f42bdad phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2460a75d-cb06-4c60-bb70-7d053a1292f7 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dafc9690-fa85-4e69-8cc8-313f02a50236 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fff23240-e370-492b-b2a3-d712ddd89995 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4adace80-cb4b-4d21-b0eb-cbfe21fc6ce4 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d9f3495-6a89-41e7-8402-d4202b0c4ee8 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf728efd-3bab-4d07-bd1f-a12bb2d0087a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22e1a1bd-dd02-499e-a748-619a8d823eeb phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b482c5bb-cf44-44c4-9ef5-9f3ba93b593e phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d6c9fb1-0314-496b-82cf-86997f80f2da phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb4cdfb6-6965-4756-95b2-dffae9fe0e03 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3cac64e3-abbd-413a-a0af-7349a2e590d7 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f3d453e-9f30-491d-90a6-80bd44385e12 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15edb3a3-ba7f-42ac-9137-2149a9f1e22a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e357032-a5e7-4800-90be-ea83497c167c phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5acd4eb0-c30f-4874-a176-137c87603092 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14289066-9da0-4736-8eb2-e699a763f503 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6cff70e6-1cde-4f45-882c-bd36ae855408 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f2b93661-ab19-4c86-bc91-414f68ff4788 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46b5e213-5113-4491-8460-9d1de202504b phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce08013a-0de6-4a3a-b08a-383f07d6655c phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4240cbc8-c59e-4790-a5b2-569c01d611d3 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78928d4a-7293-4ef0-b0a3-5f0ef2aa73a5 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57db9df2-4f9f-4abe-a4cd-8267bf9d04b2 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f9d15a98-6259-443d-b6a0-72db16ec9991 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:551439e9-fe05-4828-9520-a600d5fa7aa0 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b345aac5-b577-47f5-b098-7e2453c6f262 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0698bfa3-e17b-4994-a9bc-acfa8bdb0914 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bababf81-a64b-4443-b099-3584f200b96a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9fb149b2-6a81-43c2-8e50-6f438a496d78 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8891dd61-0eea-462a-95f8-9c057b14b07a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b591968e-0502-4d82-8469-f64e23e2bb51 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac9004e2-776f-498b-aaaa-19b7908d0ded phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77ef0c05-4e95-426d-8b2e-bf6ebd9d4225 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70b09bff-5754-4b4a-83b7-b377ba5de566 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3dbf8702-c0fb-4873-b7c7-880dca6d349a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e9b33e2-8e8b-4e56-a94c-d54d335044c4 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a224591-1024-44d4-a1f9-9702402b5fb4 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46860fe9-549b-451d-b7c6-aa70e747eb3a phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4a55c83-9af9-41f0-80e3-68637b3506ee phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08e6c3fb-5874-4a6c-9c1c-f58260cd9739 phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c12f019b-9707-4f0c-912b-7b479ad12d6b phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6b7ed59f-a2d3-49da-a6b2-7595ab971fd9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0b5e167f-e9ab-4033-980b-5c8783326ea1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0fb6c4ef-cb8e-469c-8923-df300a854584 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:dbbe90f2-8eb7-4675-9266-58774be6e004 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a487769f-e5bd-4723-b50b-053cc94ae21e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d30523bd-5576-45b5-8171-e69d1da7905f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4eb82047-6475-4cb7-9f85-e93cf19a8f57 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e3a8dd97-1605-4889-9753-ce7465bc111c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ff5970db-90bc-4f6b-af78-8e8426d8d5bd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:591a4c48-c3df-43bc-912c-72b393482b60 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:94d5d617-247f-4b86-b683-0fa443bf2ff6 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d3ded292-58ec-4c59-ba5c-d94e254ab1d5 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a1fa6724-71bb-4ef3-96e6-e592a861d166 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d41e5a39-4c8b-409a-8001-b37eff448e51 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89b783c8-e50b-4dbe-b49a-9abc860a6037 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3103eabf-57ca-403f-afe5-6ae3de7e693d phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7e003f4-1a29-4344-a2fa-e3fb2d2d1922 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6c0afef-e331-40ba-a3e4-8b49172127fd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc8422bd-ebb8-4d35-b517-2214bf583cbc phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cccf1f17-9638-499c-9463-03573948e1c5 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85fe0c95-ac24-408d-b7c3-553e99012d3e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33df195d-be63-4e0f-a8fa-2634949faddb phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee78324f-3bb5-4665-b0aa-75f0697b00c8 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec8c9028-976e-43c1-afec-bad4f773ed3e phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6227964a-1585-4141-8c62-2eeb6cccf6a1 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca7c299b-a42c-4f1d-899d-b086e5c4e6c2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b2647e9f-26ec-4d57-a9f4-ae35baf82c5c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2bf1e619-90d5-4a54-b32c-acc358ff8aaa phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5961d75c-6bd6-4f18-a088-cd2e3c69d4c9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4237179-f667-4797-91e8-548d996b0ae2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2613ad66-2336-460c-a082-e43f33bc541f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:219aa2c5-0dab-4e8a-a881-8dcb873e5d03 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:999981e9-2ad9-49e4-8213-daafc5921be3 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66fcd030-fea5-486e-889d-ce68f41c5313 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97e58a8c-0a0c-49f3-95c0-f9b8b27d1908 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5074b09f-0358-47a7-ae72-7c13c273dafa phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aebbaac1-364b-49ca-ba6c-303db2e22535 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:064cf3cb-a4df-442d-87f9-09050d388c15 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41571a51-3db2-4e7c-8e4d-ebc3b00f3ebb phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d63a555-cb2c-4f04-aac8-daa6906eef8b phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3fa8ed6-31bf-44d2-a639-a5bbe364a3bd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad2ea19c-da4b-4951-b5c3-38c0ffdfc5ae phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f374818-5b5d-46db-9d29-26964c8a3b66 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0d4b089-2056-4e20-8470-0f8d55b86d74 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7314798-f113-4e5b-b45d-24c3068f0ce9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:174541a1-70f7-4735-ace6-5198f3e68cc3 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:727472e6-56a6-4765-88cd-81ec204bbefd phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4188024f-c08c-44c9-886a-6eb3742ded15 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:84179f00-f83e-4342-80b7-a56c4a0c7d36 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5006f41-456f-46bc-bd70-8179fe13ae57 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ee89515-dd11-493a-866b-1aac39d7879b phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d197b92-5585-4e48-9581-1857ef9dbb14 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9c05fd5-2945-4888-a8c1-71b02c201e49 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7338a10a-0f5b-4ed7-8936-817e2138ca63 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2b593f54-c3b5-477b-8a0a-2660a8aa9b7a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72865d57-9432-4196-8a70-45e4846a6af9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2225a1b1-6996-48eb-bb1b-58f17c0e63e7 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d956ee9-6911-4b63-9e1d-04a84264c1d7 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15da7794-43db-49f3-9454-2dad4a2853d0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b70b66f-bb9d-476f-b413-a5808396938c phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2097368-fce1-4ba8-93d2-53ca6cbcaabf phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23c69301-3f7e-4544-b346-e46d441aed99 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f185a09d-92fc-4f74-9d4f-6ba8fc314778 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8839be6a-3ad5-4fbc-b423-6d0acde01d49 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f034038-dbae-4056-a495-dc6198d1b1da phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8c8677f1-56f2-4734-b652-dc9cc4fc47ce phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f6bb07c0-4b5e-4e10-a753-aea2fd64c327 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57051070-b615-49ca-9b0a-34735c6e98a0 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad4023d6-77b7-4c12-8bec-b1065fc5799a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d724272d-eba2-47f9-8a97-d90a0fc7920f phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:55e6272c-5514-44ab-94fa-5e770d53cff2 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbf58c0d-e031-4aaf-950f-c22d68f5ffba phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:050cb27d-6d1b-4c89-b9c3-8b57a64a4a5a phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07e85fb9-662b-4ac3-8bdf-3c9dd7f22be9 phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:da0b9d7a-f94f-4c3e-9cf9-b3deaa76ebbe phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:cadad908-b18a-44f8-8cbc-9e067b5e554d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d95f6db9-ba41-424d-92ae-93142cf4b276 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d0cb3f19-75f9-4e39-bda3-b1949b26a63a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:48079080-f4ec-4f04-8f7a-f7fd94ba1d30 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cbcad52d-7e15-4b00-a6c9-0b1ce9b24530 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:759ea176-d788-4cca-8fde-f2ad08017442 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb947d08-54ba-426a-9857-8afba9635c27 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2af9fce8-1c54-4622-98d7-a55897653348 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a2eb200e-988e-4ac6-9cdf-328617a7958a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ef337f29-79bc-441e-8e1a-29a7652dc673 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:975bffb2-16e2-46f0-abcc-b511ac46645d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bf5bbd91-3ec2-4d3f-8bfa-919460fd2ad9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b309e3a0-b57f-4cc3-848f-95234ba04b9a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f3859ff9-8a94-49af-8551-3ab44fcca23f phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:562b8096-d916-4299-b3d1-7bce9b811e94 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:717e928b-824c-467e-b311-d0498184a4fd phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9eeaba5c-6759-4e4b-9d0e-65807c963d3a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53a19f6d-2cbc-40b2-b04f-7860e9e07cc5 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bde1d157-34a2-465b-bf84-5d609e83be60 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2498c9d1-6a79-4d6e-8cd1-359289521ae7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ebe892a8-268a-4f37-9233-1c521a12505e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:152aefd6-a436-4eb4-9a04-c7a09084a0e7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:27c903e7-a460-43a9-8c7e-1a2dc886d31d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c726b05-9075-41b1-8de7-cb5b14d301ce phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:21e7e185-c481-4e91-875d-a529cc540098 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d6dbd1a-ea56-458e-acfe-1e8b30854943 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b19be121-a38a-4054-b5cc-ed35cdd8b886 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6e79efc-4651-4040-8df8-8f921d2582f9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c309452-08fa-4e54-9444-9a533bc1b16a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d0ed437-30aa-4293-a66e-4a72c17f1cec phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14e04ce0-91d2-4852-8cf3-856126d0c6fa phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d23bc167-9e55-44aa-8fc2-807e92cc8294 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a009f11-57e2-4791-bd06-ca4d54936696 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3013ad1-3c45-46a3-9b45-32b17b7ce57b phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8fdb9196-8ab5-4fd2-b3b8-5f81524f07ae phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0288d8d0-3b8f-405e-974b-370bea51ac65 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43adc398-f3e0-47c2-91d0-abe3ad03524a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e158597d-0ae0-4f41-88be-9b5ba23131ef phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:acd672b0-ad27-44da-aa68-d5f2c15ddee4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:306f9fc1-97e0-4a28-ba48-3c83437ba6ad phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d2dbc148-8e20-4551-a9b8-7b77106046ad phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57d63f9e-8b67-4722-9960-0db03fd85c05 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff84c964-ae37-4b1d-b594-50f23a4cd387 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed3e89e6-8017-4bb6-b867-d873950e6aab phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cbd7ec9-d14b-499e-bc1b-4d3a8b734855 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a2435a57-ed8a-4d33-90c3-08bda8952d68 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:575e0b37-33f1-45bd-805f-25c9e6f496ac phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:193ed0d5-3142-4388-845a-de99e9eee6da phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:562324a9-8d7a-47d6-bbc4-3669359d461d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78f365fa-c39b-4f22-bfda-f6f08ad710a6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47cf438e-3a04-4b6b-aa7b-f7896baf5249 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c25f7d29-b7e4-4076-b091-3750531c722b phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:505a7c47-f9c5-4f17-b61f-202339c629c9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa392cef-dac9-4bff-9499-5c5092d5a486 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34d08f0a-c492-4c0f-a361-1da00557e0c6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ddd21fea-ad5a-496c-86e6-b4b197440cd0 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8480b975-d143-4913-be2e-162646120254 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:653fdb6f-d12f-4c5a-85d3-660b686b5ed3 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e241849c-c2c7-4ba0-9a8c-277d96244457 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c5f3cb2a-633e-47bb-a719-7f9fba5e2696 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d2793ef1-0396-462a-afd2-4ad41e2119e4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e817e18d-91c0-46b8-8c35-3fca9b225109 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:984b5e03-2cf5-4dfd-8418-b3f37052269c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e9f620b-810b-47ae-acaa-0f138c87401e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b3b840b-37e1-46ac-b4ce-a2dece834dbe phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a1f303e-6d3a-4dc4-b34f-918d4cc8ad98 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c8199ce-66dc-431e-95ba-58a1a9dceaa9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:986287ec-577b-4d94-b4be-8cad889d7f11 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b626c64-0fbf-4a5d-8a16-35756c95e02f phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1cbc24d-d1e2-4017-a042-51ec486cc976 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e62e8657-b340-4791-a23e-adb5dc949bd8 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9f23918-c6b6-43bd-9eac-11fd4bd6d972 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3631d184-3117-4db8-aa07-0c2e260c994a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1f6992f-a49e-463e-8c6c-4290ec660499 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96400ce7-ba32-4780-98d6-060d83330b79 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:130c226f-487e-49d8-a584-98a99508ebf2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:2eca64aa-b9e7-4a6a-89fe-105f8b891a00 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9653695c-5602-412e-b625-7087235a7c7e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:05475083-2d41-46aa-9914-3c71fc445a1e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fc48050a-ab95-462c-8281-5069365853d9 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b12c33ce-fcf9-43c8-b5ac-ae21d1a2dc25 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3296c60b-ddd6-493a-ba6a-07652615cc32 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:13edd693-8d84-40bc-a7f2-c216eb9d1703 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e0d6cf2a-605f-463c-8f14-430af7a61986 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e8cd7c27-0caa-4d9f-9045-2d73e64fe7a7 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c6a21db8-19d4-474e-b9f4-a0ab3dade705 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:95fe020f-e245-42df-b936-601d1df72970 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:380f37cd-a99b-428b-b32f-b4121d8bddc8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:065025fa-6326-4b02-9ee4-799d33e89292 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c09eee53-8c91-4f9c-be2d-64a8bb5785ad phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:88600583-67aa-4f91-9a8d-ab385f26ba9a phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6e0cc764-aa8a-4f74-afd9-505d0c658e32 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:89d7da55-c641-4fea-bad0-727605e42850 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:76af057c-375c-4a0d-b73b-6e438006c844 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cff1543e-23c2-4157-a716-fa887fae0f15 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:503c2619-5b76-4e7d-98d6-f9e5703faaaa phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ec542b2b-82f1-4f7d-ba7e-717913466b0a phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7b338856-3bde-44bb-b6b5-d3cfb49bdaaf phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:28ee5fde-5040-43d9-9ada-37b341ae71e1 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:007d25b8-4e49-47e2-a7a7-47ba2fc441a8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50aa27d3-f764-4861-99f3-9561882693b8 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4478435-8321-4fd9-ac8f-65235145c99b phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78b489c3-a180-49f2-a39e-43c8fa09a340 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf8d82c3-2f1a-40d2-b421-4d30a36d5c0c phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8beb48a9-b5f6-414d-83e3-8da7c7758455 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc69c35a-262e-4c7c-ac5e-a167955b30ea phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8ee52e45-d013-430e-80b0-b23daaac106d phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b57bf036-39b6-42b3-a5c9-4768debdc8f6 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc6725a5-cacb-45ed-a08c-5afeca613772 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd337a11-63fa-46f1-9b4a-ac276aff570f phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:553ca75b-00de-4cf7-8445-8b47d74a2b27 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73aa06eb-3d1b-496e-828d-2b0b57fec408 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1e2a95f-34fa-4da1-bad0-56998f790a43 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:577194e1-2400-497a-934c-ba1738154ffa phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5960c9b-6cd0-40dd-9b1c-149a041729c5 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d9c8fa4-0089-4ee7-80eb-4dbe442aec3c phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:945271bf-aac0-40d5-a47a-c01d194e6a5d phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8426b1a0-f5df-41aa-891d-d65566f2055b phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d55fb8fc-d6ae-4a55-af32-079822da78cd phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a54b43f0-95de-412f-b801-f03edcba9458 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73b7c6b4-480b-4087-b9fb-b2674113d816 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:03ecccfb-d062-42ca-86ed-40b198c4a13b phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8c90c58f-e8e1-4010-a34a-dfe0d92db0a9 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d0fb3a6-b6b4-4f7d-a8b5-e4918f39633e phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1191bc6b-5efe-45e5-98e2-e7706278be91 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79182779-ba88-4013-950b-ba2411245380 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22a1c303-578c-4b55-85cb-c8cf31cf2049 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e21b79a9-16b6-4d24-a0f4-1d1e56e5660d phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72bfd49b-9ec3-442c-8d8d-f050d7662842 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9466ca63-1bac-449d-97a7-457128d3ad13 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a46277ef-648d-411e-ac47-bbf83a83db3a phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:32861648-f053-4d09-a24c-c1f9f7992218 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa85706b-ada0-4d85-8e37-259e853770d2 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d5ac646-a1bd-4b06-8750-4f522de6f1ef phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:caf8c1c2-3bf8-4093-825e-924bb788bb81 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61a0ac0b-f40c-40ee-b1f1-f31456adec88 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a444f1c-cdc3-4471-96cc-3c66f8200f9a phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:530a714a-bc0f-4353-aad2-d1e5e821f5b7 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75b278d4-193c-445c-9583-340c5c3cab25 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e510371-6405-435c-bd6f-48c3b0fb9d62 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5cd2de06-2d8a-4e3c-aa86-8fab5c2cc173 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b6a5cb8-2267-4a5e-877e-b36b84939ec0 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e30ac401-5ba4-4ea9-9b67-d5f7f8231c92 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:617b6de8-be8e-471f-806f-f02aeca2f57f phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f3226a3b-0e22-4cd9-850b-1729738b76cc phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad569223-bbd1-4177-a726-66561ef1f8f6 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3760fac4-6f6b-4908-aa93-2b427cc657e4 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c22d0f6b-2310-4633-b8b0-a3aa17fb88b2 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96d4548d-afe9-4395-a974-250786d67b3d phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2bba3a12-20ef-49a0-bafe-70557da8be6a phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:498fc160-ab75-491e-b684-4d2a2f30c7f6 phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:5ea0fed4-f1ad-4dc9-9482-728b68c1a760 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37951597 uuid:b505ed1f-17e3-42b6-90e4-4ffea0a5cc67 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b55d8cf0-6c77-43d5-906d-f674bd904494 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2a3d1088-cc40-4ec0-8443-6e227fa1d234 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:434eda56-440c-4d12-8934-1282043c61bd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:97c22fd0-edc8-4af1-8d1b-590ac49380b6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:077469ef-9d41-4e2c-b418-c71338078b29 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ad3e12d1-9e6a-452c-bae4-a852cdb23436 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:65a552fa-ccbb-4b65-b02c-ddce77a0ffb4 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:59138290-741f-4fac-8183-6c959d38f490 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:140d6b80-8a01-483f-b479-1fde56394fe9 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:94be1282-3b86-4c72-92f7-8b20b7ff784d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:415f47dd-c077-42b1-99bb-19b0c0b826e2 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6868347-29bc-4e03-a770-e18a0d660069 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:431e86d5-3b03-49dc-83bb-1a0fa71555f4 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d863ae3a-3bc5-43d0-b54a-3dee1964a0bb phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d3ea1ce7-8477-46e7-a64d-d94716bb8ab0 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:71328d85-229c-4613-a8cf-a64c4c5888d5 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:56b7b1c8-ffa4-48d4-8ff5-e55550f64bbd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d0e1b188-87b4-44cb-b579-882ff2345685 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a7695e32-e65d-43a8-907c-84ade8ac8e91 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1104c31b-246d-4c1a-bfe8-6a700033b50e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d507fb30-e1d5-4da2-bb9c-bf09b8d7ec07 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:27529071-b7dd-4c04-a8bf-81d3dfab8864 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d57f746e-4fd8-4ab1-b871-11b848f71262 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f6eae21-1436-463c-9850-c43784ed47a7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67ac4d13-1a79-41a4-8e1e-7af115374a16 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75209030-58b7-46c8-9998-14087bd8d80d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fc81265-310b-451f-b1e8-d57c87c6ff07 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e83bb835-1515-4b16-8687-49da9ae055bb phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ac19206-d87b-4fd9-ab30-7b4d124fd176 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ffd7be65-12ec-41fa-ae2e-0da7c0026e73 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80822e1d-cad6-4fcc-850e-6f1596566f4f phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:abfeb9c6-0ce3-49c6-99b8-b297e61d841b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b90a15a-1bac-47fd-97de-76929f4522ed phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d4c4fd9-bf93-496d-8bc8-eb76f61670bf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66a07d9d-1636-40d3-9e9f-fae397ca8989 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0770a0a9-61cb-4b25-a4d3-ad6cf33da9b4 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d523c0b7-079f-4f99-b375-94f528a34744 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aab4462d-9659-4197-a726-e158f366959e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1acae24e-4457-4920-91e7-fac1feedb295 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2bf087c1-669c-416c-84c2-c8395d2bfc9a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b40d841-789d-4ae6-900f-500a98da3c19 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4db8fb68-c587-435b-9d5b-55ed98650a9b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4b9a537-7859-4b37-83ba-135405fb5a5c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab654323-46c0-4946-8376-5c944a376a99 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91341ad5-dd30-452a-a4c1-d82c434d2af0 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c947a457-aafe-4293-9c8f-947afcedb21d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c192bea1-e9c1-4b72-b6a4-0112bef8608a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5363a31f-7b6e-4d15-9a5c-362f7d3ad304 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42e6b14e-1268-4dd9-86fb-76b5e656e52d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c19f059f-f428-4c54-a08e-d7a7242def62 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ba54d1b-851c-448f-b8c4-fa2746d26f51 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8f955f64-2d68-40fa-8c79-4fa89fbe1004 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df95d2d4-aa2d-4ebd-b11c-ebf8fc809e09 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:992d40bf-0011-411f-b348-f7ad7a8efefc phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d4e47b5-f3f0-4a2e-af59-aa2a4c289ecd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a37e0047-ee09-4cff-8813-7a04c54f94bf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4532972c-cfe2-4771-8654-f1305fbb66bf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a079463-e2a7-436c-8b37-432f681c04cd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45d02684-9885-4cbf-9850-7f4982f77998 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ffaeb46e-21d3-48b5-89b2-0e2077204942 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a9a7b4c-be61-484d-83ca-a62e67440ebc phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69112550-e624-427d-9b8c-74a1d20509b7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:528cf04a-01b3-49b7-a2b6-a4b3cee37879 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:665993f0-abc5-4ada-b97a-60c69959596e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4127f577-986a-4f13-81ee-49738f18aae7 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e0754419-af9f-4d9f-94f1-6d73aaff2d60 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:347b36e0-e0e6-4af9-b12e-ae8cb57a6a81 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:37951597 uuid:2c5b8b96-cd73-42f9-856b-61679dc5a6b9 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:45d51a52-6706-4c13-9edd-a3eab634e06e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:58bae2d3-e401-44bf-bf40-d65f4159f40b phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:82b3fb97-3e2d-413a-bc32-731f84a344f1 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5682eb56-77ae-4983-8b8d-d579eafddf11 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1dab0f67-b3e8-4165-af23-b85f4b7239dc phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:29f5eb0a-411a-464d-89b3-4e48c43b0b30 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ee384135-e4cb-4ce8-ac0a-a67e3855e089 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6ef2350d-c491-4ea8-9e7b-b39628929b2d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:52b60ec2-6109-4bef-982b-b56c9ef452a2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bea88932-a4b5-4ee5-9a0a-a59c25f9d619 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c6a3666c-e80e-4b19-b812-37b20445179e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:37fa0ce2-e736-48b6-85e0-d906a6cb74d4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ec53a131-fb10-4b90-a1ef-bc1c5b611d57 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e37d01fe-4526-4cec-addc-1a8adfcda800 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7eccd26f-98c7-45f5-a02c-7a8c6f2e83c4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:845a0283-ea0d-467a-9bee-3f62362e6993 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:76f42bea-cfd9-40ff-8b63-2261079988ee phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2f9c3f10-9631-47ac-9abc-1a3da7671ee7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d50a461d-41e0-404d-8ac4-871935e317e4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a50787d-d4e3-4a8a-9d7d-9bc0929544c0 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:346af4ec-d074-4808-87d5-ff2f736c0417 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:27269508-985e-4a23-af7e-d0ece530e95d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cbd0936e-783e-46f5-97c3-31f380d2c468 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec85f162-fd84-4a5d-a2e1-ab615d17203a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56fb75e7-365f-4804-bf17-71674cadc648 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9956bfb1-f1b5-4e5e-8948-872c7608caa1 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:92765e82-d9d9-48d0-8b14-471ee8d5f0c4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ea59b04c-eadf-4be7-80fa-92895a0b209f phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0efc801-b77d-4d02-bff7-f84cddb44148 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a879f8c-dc1a-4c7c-a105-71dd90bd6b36 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4dbec2e2-6d18-4bb8-be2f-5ac0f899b195 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cfbeed54-a239-4991-b3e2-9ab9de57f88c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:26bd02f5-5af6-444d-b169-9d081e8aa397 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94799827-124a-4c34-b86d-5d9f87a77457 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43953dd0-c94f-4637-afdc-d3d2ea6c4152 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:735ec846-2ccb-40f2-837b-45058b1fc261 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f95a2855-1b1d-41af-b7af-733b774178f4 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:11c10dbc-ed89-4746-85ea-2e0d51b8cd05 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56c1cd88-2927-4e9e-b5a3-35948ec082d8 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08514734-6746-41a8-ac66-94bd1dd6547e phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4f496a6e-f74a-4d80-99ec-e5fa4d285806 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1811386b-cbd3-4b08-8e56-1082cb110361 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77410f1e-cde9-4335-a027-f99651cc3f8d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce998679-9129-423b-a647-a9f47b490d58 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04bf2c0c-0317-4ebb-a23d-f7e5e46c6158 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65db41db-263e-4394-9335-a6b7dfe857a5 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7183c0f-5ad1-412c-9552-ba2ba497a7c3 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af40b1e0-d65a-4372-ab34-52d5a3ffbad7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85640dbc-a6a6-4b38-9124-9d3a8a32011c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7593772-38e4-4cc4-969d-7a6309d83136 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5720223-f209-4f14-965b-fb13c16d386d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1298df2a-0d5d-4d00-9005-d6c1dea13b65 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2d5fbb2-e316-4c17-9436-ac62704fa3bf phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13e0daf8-0bba-4b59-b026-adc3f5b34def phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f2c370c-25d1-43d7-aa9e-6698d0deb135 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:24e36d5e-19d7-427f-8ad1-a08024eb088c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f6d5c92-a1cc-456e-b51e-224d112ff3e7 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9552ff3-dd07-4f57-b895-91e47e3c4cb6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7389ebf-af23-4d56-9e36-2b37451f0f68 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7faaa720-d535-434d-b0d5-cbb956b83f2b phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbb62c8b-173f-4c3d-8c6d-8aef3156007f phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc937b93-d702-4617-9955-84f6a9b409d2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b26f17ce-4653-41cf-a1a6-6beeb3741914 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e65c3ad-ff05-4692-bd5e-a805a35010a2 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e29effc6-2091-436a-bd9e-d9cc6937da6c phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d28fa94-67c8-419b-b4de-a17e5b24326d phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f238a641-a72c-42a0-b96d-4ee5bc82bce6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c36ef9d3-c4cf-4d61-90b1-5a780b23e4c6 phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:ee490726-eabc-45b3-aad8-eabf65b4569a phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:957063de-a177-4d4a-a5e4-15b961e62ade phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:261e201d-2624-4359-96b1-88495a63e0b4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4b5ea4f2-66e7-4b0c-b585-60c98c72868d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2f3de8d1-e876-4c3c-8685-030c0072d7f5 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e05b85bd-1ff5-4099-9234-c97f29399d8e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3eea25c6-086f-4b68-909f-37cad84faa7a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d6aa5459-be29-4eb2-90ee-ff4946b47c43 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0cca4f00-e73f-4a99-9ee5-bad0c74b55b0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9a4c8946-9a5d-412e-b4ba-38aadb806d1d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:675d911b-b204-410a-99a7-61259ac6de3a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1a72a0b0-15d8-41e3-af3b-f15e3d6095b6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6bb641d3-e4ec-40b8-82eb-4465d5f0409e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c134e952-b1be-4304-9793-0c17b1b377ee phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:96a754b1-11c3-4055-923c-a40fed4bb9bf phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fcd51c11-5007-4e2d-8940-8c310569d0e9 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a99d5ade-7f3b-415f-955a-96fd6cf438f8 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bce1c472-6550-43ad-8e00-6a1205ff6d6a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:be7c261d-91de-4a05-a441-ff646123a537 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e61389c3-e36c-4940-88f9-1d7e5bda81d8 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b77a1922-804c-44ab-abb6-f539d1fd04d6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f8671ef-dec0-4ae4-a641-f4c066f04b7c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b17ca97c-8e90-4953-afa6-ae86b8bcc758 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:616df555-a816-474e-ae32-86c0827cbdba phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:11ca3eb7-f00d-4251-ae78-78e370d906d4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f7ee0517-f90f-49f9-b2e5-e1ab68fae1a3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb99b8a9-e136-407a-a5ec-6b5ada7ba559 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e718bd81-a98f-4dc5-915b-1f6e2d1a4785 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1cf844a-f1cd-47d5-a82f-d58e564a0f67 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba879173-ca3e-4402-8e73-604e31268dd0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6472a217-ae06-4685-b783-731fcdc76b06 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c98ca19-56ff-4a07-845c-238879acfc84 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0337086f-3e09-4ad8-a54a-060831a5627e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7c29406-e79c-43c4-aecf-4a193b4fe600 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df04da03-bb4e-4656-9099-8d3e18756203 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec07fcd6-8eaf-4709-be5c-6a271cef13b3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d05560cc-8304-45fc-a8a4-5682cf170e95 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e001e76b-99e7-46e3-a661-e0ecae37efa4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:638c279b-b81f-4414-86cc-4e27fa3fbf46 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a384510-30ff-4b40-835d-7e12328bcd21 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45033845-9257-4817-9304-2a580b463e89 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ae7e209-21b9-4033-b803-0ba54edcd198 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e0232c9-d81e-494f-b8f0-49fe8a01b831 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87ef4da6-58d9-4a38-98b8-2fec16f3290b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:01925a14-8193-43e9-b9e7-d4d7e89bfe43 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a484a9d3-799d-4bf0-9b8b-0eeadf273a38 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77e950e8-2b64-454a-b590-dd75d6e1f518 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e9d2f50-83a2-4749-9784-7011ae31915a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fda07872-4c23-4d81-a6f6-6b5beba0e912 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56bfe789-4f1a-437e-933b-73d3dc1a1045 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30c800b3-9dc1-484f-9ba2-6d5e7ba3d745 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:da1bc2c6-08d2-422e-a706-9001e453b954 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9c902087-5cb9-4758-8cf9-c3ff35c48655 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f97aae38-dc9a-4daf-8270-57ca88c1b035 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93ce8c2a-799e-4812-b95d-215ce4463717 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1e3ff43-69fe-4702-ae5d-37fcb94ee9e4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8be68a8e-ac62-4fab-abcf-2e48d8c1b21f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e97bdac-59f7-4b18-9968-7d2eba4d6193 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2343cd9c-5caf-4b32-936a-3aae298cc6f4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:598bb768-36ef-40fd-92ad-8166fde42f01 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6be378cd-4795-4a62-ae29-99cd43537026 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a7230f71-3666-4789-886a-a30a789a4e7e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbf7cc56-fe03-43d0-a7ec-cd65a4230e49 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9803e03-a078-473f-9be1-aea9ae33ac9d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b2ccabf5-096e-4452-bb6b-8eb83202438d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0f98072-faf4-4476-b877-9574ffbcf856 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:306921b6-e74e-4105-8cba-de8cc750ada3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8ef2e2a0-2a2f-477a-9af6-c3a9099c08cc phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50190b85-0cf1-4e7e-ae62-5d5dda9baf92 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7fdac032-a11d-4f94-a6d6-3b17f18787a0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85577223-9cd1-4ae8-afd1-458643276a3f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c4ec005-bcc5-4a35-b605-6626c97adbe6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:fc48bf7f-56e2-4e3a-b69c-26282c8b281e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:3e3fffe2-2345-44d6-b556-59d04b4c9340 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f67676b5-c30f-4467-b466-116121a6e340 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e8554917-384b-4a1e-988e-734f50f14bd3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d233c9ad-6a29-4850-adde-c8cbfdb0640b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:47bf39f1-4985-4e66-bbb7-8da50dad5fe7 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c2abaadc-37f1-4ce7-965f-334e2ca89a7d phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b27bb688-a18e-421c-a2d5-d1928a9bafe2 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:094b84a5-4c5a-4d43-9a6f-9939ada3759b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3e7332f2-39a0-4a1e-a662-c14338c9c80f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e27aad76-c306-432a-82eb-0ea219692e79 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7a7d5ba-758c-4293-a07b-37ec8c6fbceb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7575c4b8-9cdc-4ae5-bc44-941dea6e381b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:19fc9fef-e57a-4b82-ab42-17fbbdbb6534 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:115ba8f8-2efe-4a3c-90f3-096d97ec0412 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee012cfe-fc3a-42d6-988a-12d0abaf2663 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17ae3b07-4a26-4ce3-ac9e-6e6a72a02707 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61345a68-94ef-4e35-a6e4-d023d7b7de84 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac8e482d-219d-4804-b189-c2ada70bc566 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a6789fdb-4645-4104-b89c-66ba3b64a30e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23afb5a2-c40a-4bc4-81bf-d9aa5181df31 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a12e7794-9132-49e9-b1f6-450c6d15893e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7230e182-b47e-49c7-9973-a9530c22ebc9 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ccfc265-4bbd-4949-b2cf-1ffbf63e4ce5 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cdd1678e-e6bf-4160-b31c-1668e91585c7 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9190d7f5-c865-4196-8b32-99c3b6125753 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f9bb0ec-b796-4997-a1a1-198b36585a1e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd6befb7-c561-4696-b36a-f5aecabaab5d phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc81c1bf-ee80-4088-b1b1-19dd16b91760 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4664000a-4954-45a3-9661-e2220e9a3c44 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e230ed5-41d9-4cd7-92a2-1f2489cae585 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e8b3f15-c788-4747-8e4b-c0ae96422d92 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1aaba63-3b3e-4e47-9e3a-42f9d4214ab3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa50569f-8425-46e9-8d15-dcb8801b37c4 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9b925901-710f-45a0-aa51-78de2823841b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c0e2bbb-267f-4b80-93c2-6a4642c3a82c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05bd473f-cfb2-44b5-bce3-9bc32f85229f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:efcb5747-50e1-459e-a644-6433a1a9b821 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e81213f4-6461-4b9e-bbe9-2601716e278f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4117c0b-6673-4a05-ba7f-01acdd4df387 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07d8f158-6416-4247-8f94-b0177074ade2 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c561ea55-a95e-43a8-a273-6b264d5adba8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:062cc4f1-975c-49c1-98a7-08eb343111bb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2418aa3f-4e82-4a32-8c76-7a95df43c586 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5acfc5c8-5bfe-42da-85b9-32cce5b396ae phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43f3d9ae-6ad4-4887-9424-99a25288bb3e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:68986d56-5448-4d54-bd30-5cd6a2e301af phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b068bcf-a1ca-4a59-8fab-387336b4e62e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:910bc6e2-8d53-47a7-bf24-b1ad02ecce8f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b660a96-1719-4d26-a34e-42d2b94a5181 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cbb238a4-17ce-4d01-b368-32609e6b4020 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41503d2c-36bf-4deb-a414-e802b2a705b5 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6d7364a-00f5-44d3-b617-8149ecd12e53 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4999e90f-4611-48b6-ad6e-139573feb2a9 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb78e43d-1edf-4731-8aec-fb476476b142 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e3c9941-c79c-443d-b7b6-23b5c0611d21 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e2c611e-91d9-4100-8f0a-b4819b90f9e6 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1f13218b-484b-4bc1-96d7-0c5ab3dc210b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7271a859-a958-4cf9-bd35-c0067cc9b8ff phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23833341-419d-4893-af58-b8903bcb49b1 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dec70f0b-8aec-4560-babe-795ea7389efa phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c49ff79-a5fc-4784-865b-4558573d859a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e8fe953-bf9f-4332-914b-6f7080f6b06b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8fbda88-787f-4845-bcc9-1a3787da0101 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fa8f8139-bc5c-4558-9a22-b27602c6fccf phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ec66da8-cf8f-41fe-a927-6bf782bbbe11 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e5d1236-44eb-4efe-b0ad-2d4c5f857754 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:133f5fc8-3b08-4dda-84c1-4a54ebd2da0c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eb8dad93-48bf-4426-a003-e619a0a7f9f3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c57683f1-ca89-4550-a4c2-6230b261775a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:4cd080cb-1359-4dc6-a2eb-35b4e0ee537a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cbccf8d1-7ec3-4964-88e6-bc7be13cefb2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c7a2647d-8f76-4d0e-8e24-eae408d64501 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e698a3d-de15-4303-aa21-3927bfeb571c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b8d1bfa-9a22-4c86-bd3e-5e2709e7f007 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28b35e5e-b4aa-4ef3-83c5-56d945758b3e phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab9ad2d3-46b6-49c5-aa42-f2d59c3ddc8a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5a6178c-bed9-4093-ba6e-da70ec9a61db phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61b757b0-7489-4c8d-b035-e0378fbad6e3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:279b6f86-3caa-434a-a09b-db9a985f5273 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd34edd6-95c1-440a-9f37-c7f4449c3e90 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8bca7a1-0aba-4cc8-b36e-4a942d311bfa phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60c29764-e8b4-477d-be36-b17c357fbbc6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47634d52-9806-4a05-97e5-105aae439450 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79c318a5-1c06-4e46-bba2-de60f01d42cd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7547e5b1-7208-42b4-b206-9ae4503de423 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3dde8d1f-0a2f-48c0-9e17-f18010a67ba1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1e4fee9-8374-4928-8dee-db8a64872308 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c305185-bd36-4e71-8af0-c2f7c3e44af1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fcc7b622-6e3e-4914-9d6b-4250c7c2b6e9 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef578a77-5963-494d-8e01-8997f2a4c9b3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0cd0f1a6-59c4-4d38-988e-07e36b73b7b5 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82be7df5-3666-450b-9ff2-c4073fa7c3e7 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:eb1d55d1-dbb4-44e0-ba74-678d0a40de25 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab9e2228-70c5-48fa-af88-2249bea5c96c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b85ad980-4c22-4ee5-a3a5-fcf9886ef8ea phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fee0b983-a461-4994-84f8-370860977ccc phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0f08079-a96c-47ef-938b-715575b87570 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9c7f1fa7-ad0e-445b-a257-a664a811db6b phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3062bf93-43c1-4696-b059-d51433f030ef phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:696f8dbe-e5e1-427e-9450-c24202997a6c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3024aeee-6634-4449-ad17-f3393a13297f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40bd2562-1b34-4497-b621-2606f787de16 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0269979-71b7-42e7-bc74-c03a917dff18 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab80118b-15a6-456d-8798-bcf943e12142 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0daceac3-ba66-478a-9f05-8fe5d6e4358d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afa1ed2f-af41-4781-b34b-e8161de0c4b6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dcdd15a4-9951-43fb-a93a-d1ba751d33f4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:170c8a8b-b1e9-4c83-85ac-7342758ac7e1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7aa98d9-77ec-4a63-9ac0-8bdab5f14ec8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4460bb4f-2684-4b45-9078-a313888733ac phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20da455b-0288-4fce-9e11-ab732e46f753 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a63b3089-ca78-47a8-adc5-f3553b1edba3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3ba877f-7077-4746-a726-d28ddb6d58d4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a934a63-0a74-43d6-becc-6cbcbe9a71bd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ff39d2e-f416-437d-aba3-825b8b344638 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:735143ab-5695-4566-a552-8336fc32c723 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3d85f3b-9f0e-4385-9ae3-25aef768a1c6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5d223da-a133-4d8d-8537-82cd19016272 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67ccc7ce-1aeb-493f-8fc5-d2e51e6d4799 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c24a8877-cae6-4136-bdc4-fa0a54f93fc8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:71a65fa0-6531-4774-a72f-abf62306d47a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad753c6c-a877-40eb-b661-93799060b1b3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5d453cd6-f576-4c90-a74e-28064b29cbbc phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:99e261e6-aedb-40f7-9d1c-9e998aa5bf6a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8f22502-6d5e-45e5-b5df-2cdaf99f4437 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76e5d624-bf86-479f-aa8d-ba09b3a815a6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f7b5f84-f340-440f-8642-3217b23d58f3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65b801ce-a0e2-4f15-b419-a0d8bf0d2649 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2dd1ee84-fb5a-4eca-ae62-aa91aeffbd57 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee333f73-fd99-4d38-9b12-d44c6d3691c4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:26b62748-f7aa-4c2d-abc4-3ebb201edc26 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:697ea434-6422-4758-b6d4-779378f1e8ab phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:babc12dd-86b6-4e2c-a348-bc426bdab412 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:861e703a-250e-4713-9c4a-07b1a410c2b5 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e9f1e4e-96c5-49d6-b8b5-f7c04c3caf61 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:29b9dd15-1d82-4314-a4fc-ce4fdeeac48e phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:1b28a3cd-1835-469d-a9bb-3ee0edb1e8b4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:561717e0-865d-4d30-b63c-1aec534ef625 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e60d1951-7d4d-4dd5-8411-3a2f5efea1b2 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:04abe18f-d4f2-4d1e-8109-ff407fff0750 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:70a5fec3-7e00-4f7f-9263-133ffc330232 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:23d16792-01a8-47cb-bf1b-cf2413502b52 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9e58f191-9414-4b36-91f4-6db561272ed2 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f5157f8d-5ab9-4814-a8e7-24d46120fb72 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:483e84d4-6ea0-44bd-8626-2fc7078f3496 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb3c6407-4051-4041-8d33-31df44f3ff75 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6819e020-3a46-4696-8573-bdaf599c7401 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d85c81b5-42f4-49fe-9f95-963dcede3a1b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6328f01-cbd8-4258-bac5-ec7164d0ad23 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a369697e-8233-4960-a783-138ad6a20bbd phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:deea56d7-96de-498b-ab9a-614e390ce193 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57fab6cc-d023-406f-afb1-37a391bac495 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0df696a4-7469-4348-b348-60bf58c96970 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d3b4441a-b270-4834-aadf-41029ccf166a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e325193-df64-47dc-ae4c-02c344bd34d0 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1a356df-afbc-4381-87da-bab796024d81 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a5345d2-cfea-4e33-a5ad-d1ed926ef246 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3ceb78da-78b0-4b13-acdd-8a8e2fced83d phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afff25fa-f036-4fce-ae0b-a6b74f649cf4 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b27cefd9-b99b-4f4c-86cc-b39d2f2dd5ef phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba40cecd-58f3-41f4-b93c-b8fc5f46522b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:362f626e-da44-4561-a021-a6d023124d63 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc383e5d-7980-47e5-b1d2-c3161294b893 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa466ac9-8043-42df-8c33-6e52ea3c22d8 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f6705f31-b6b7-4591-96da-831232e34228 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bdeea24e-8666-410a-9a69-5de01d03f952 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5263865d-79dd-4679-83e2-f02daad5de6e phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a5b15ca-0088-4fbf-8668-92ec15ff2b0c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3caaaf9f-875d-49df-92a7-05b96169a5ea phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c93e193f-5c69-4206-bed6-c1f10c36940f phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5476c20-9379-4d49-bcfa-c08960b87cda phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c268f688-689e-409a-ac4b-f7f9ff719964 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:84678614-f40e-44bd-bb44-0bf084539dbe phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d14bd79a-dfac-4543-8edc-91c1fdae1837 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c9b31e0-5a3f-4928-a65f-177010a3710b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e02535a-89f1-4b8a-b4e1-95dad1d1bb91 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e742114b-2c33-4ae0-8b92-1ef6f85ed05b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a6476b44-10a6-479d-8598-032bdfa2ad78 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a65e3746-389d-47a9-a52b-fb4b15544f4d phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:80548afd-7d90-4658-9dad-7fddaed55848 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54055f6c-ca2c-4989-8fc3-35946a84ff9b phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7eae7ef7-55e7-4580-9dda-9b97c1b1c37a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afcd1e36-a466-4be3-9a86-82832beb3718 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:de3f4955-9df4-4c1a-bb0a-4632c5ef81c1 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:24a32bfa-05dd-4978-985d-8ccf09e46b65 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9d6eac58-7741-4a1e-83b2-0d85b471c9b0 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:282950cb-5641-40ae-b052-8866b32d878a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:361f4cf8-7640-48d4-bc9d-bd3efec09add phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15130e20-398e-4d4b-8650-13894ce5c949 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:091a9a18-f813-4eed-bb3b-113f1ad6d65c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:39e649ce-89e6-4edb-9f60-fbb876114936 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2175cf2f-ad98-4a6c-8e4f-14d0c2ccb686 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f238bbf6-c584-4158-83cf-b5d0bf193139 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0b902d4-47b2-493b-b5bc-9d53a1896a77 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc1a580f-b591-44c5-8bc8-84c38ecae941 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04f17a2b-9187-4771-8b53-47787c68d388 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a44acd0c-8006-4e53-a7c6-2f4af0400cbf phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93457e91-3c98-436a-9d0f-0bb3a416ee2c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75c6f892-5660-4313-be1f-2552035c66e8 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:633ba141-08b4-4173-82af-9fc3c5ac0f82 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5279740-6a71-4570-8270-951015b24393 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31a901af-09f3-47bd-8a27-1c6998d75941 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a92e993-2f6d-465d-a8e0-e3584e72ff76 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1bb83b87-bcca-4b0e-a262-2f242d2ea1b2 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:148aaee8-4444-4dae-9bb5-7f73bd5f24eb phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8fdef41a-0026-4146-bbb7-123418b9aa4a phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c4a65af-b657-4366-b82a-9a1e14502e78 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df13f77e-2c2b-46d5-b53d-9a769f437523 phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34ea28f1-d588-4253-8695-2edc6bfc986c phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:cbc017f1-6c19-45ba-b634-6fedbf44c89f phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:85f398cb-d8fd-4b6b-984f-627f6e31e64e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:41fc4cfd-6e60-410f-964c-0219cf65514d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6524f11b-cf02-4012-841f-db36b1f8a4f9 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a7d53fb2-1569-41a3-8392-378ba4620692 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cc2d801c-d824-4250-94b9-4f1538aa4def phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e2515bb4-2c21-40dd-a0d8-5873b191e2d1 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fae5cbaf-a18e-43f5-bde5-4966e2f74b64 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:64970705-0623-488f-9969-6b589f259d32 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a8377fc-4e4c-419c-b315-87ba9e0f03e5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4300be7e-8163-4df8-b5ae-ec3294acc329 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2758250f-e6e4-490c-bd29-788cad60546d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1544b2fe-298d-4302-a754-249b18ece8b5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:471ef311-b02e-4f71-ae43-44c70442a3b4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b57d8a37-2ebc-4024-9c56-7b2bb19cbc4f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f45b89c-d47f-49f2-a3e9-160d1229da9f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:62e2162d-8876-4a38-bb25-b1ce417a23ab phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b9f083e-1301-45f1-8c51-88bf81ec7698 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c543c13c-6e8b-4468-b93d-7d5c4bba29db phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5d4766a5-8978-4930-978e-f5f74c173b0d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5350573-28ea-4740-98bb-a57bdd8f56c7 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34e6718a-8789-4551-a047-24b8ecaa1fc1 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9d9a8a4e-a3e0-42cd-90ea-7c42759fc054 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:798e1c0f-2e09-4ab9-91c6-7e0bd6532707 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:318b61fc-01b2-4752-9be7-16f845117c22 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ef7d0da-da9b-4f2c-a2b3-6c6d5a5bee4e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff8f9d42-843e-40b5-bb41-21e03b48686d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1f6a378-b7ea-4d79-a529-b5cf78cfbd8b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e42d435-cfd6-4005-b2b0-4993b1d2a894 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd841a76-549a-4712-bcca-a5bc96c7bed3 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58cb655e-0596-4f82-b0bf-5975c3c36c93 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec58cac5-d113-4e00-b3f9-c850b3bf4d42 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e67c7188-81cf-42ce-993f-be109aa8b9aa phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:49fde14a-5584-49ed-9fd1-c34965ba6383 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04aca3f1-c017-44a4-acc0-567d7ef72bd3 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df2f4c78-3738-4b97-b93f-02b2650ec359 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:090097e4-723f-45b0-aa1f-0935a47ed534 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0b80a02-6aa6-482a-a3b8-49e1b7e8c594 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f4bdb17-e406-4ac6-8863-f9d1bd7eadab phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:02ae4730-3cb6-478c-87e3-d6247bce617d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b95c9a23-c9eb-4f59-bc15-22c2bed5da5b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3686a1e8-4504-4219-bcaa-aa676f1a9e7b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37b38f83-1b00-4249-9d1a-eec6bff2d8c7 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb69d13a-41a4-4bd8-af19-1911f8cc5dd7 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9632887d-1cde-48f9-a16e-559214fdf1b6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9594865a-6015-432a-8039-aa12f6285ece phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f85cb9b8-c78a-43ca-b4a3-4128d4b56b99 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46ee1024-e111-4974-b116-001fe166a0fb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a22a983-e0f3-446e-b5d1-0cb42a2a0a5e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e1332fd-6e5c-4a3f-9981-a77c5169225c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0ee3ba0-197c-46cf-96d8-e0a22c2a9774 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86c5697a-d764-4ac3-8391-d13d3a500538 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6f032b4-c448-4968-9725-4ab5b5ad10ca phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:11fe33fb-869d-42ca-8ba9-a8cd8949a37b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3789a984-e8ac-4fd2-8249-d70a02ff2604 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08bbb202-3f06-4eb5-9c06-4e058a69e909 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3ae59700-e0eb-4286-bc81-5bf65a2f66ae phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9eb607ca-8d11-4eed-83b3-55296601a1ae phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4d1d479-d044-4654-8bbe-8e6249309709 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0ce3f0c-b5f4-4e97-b8b4-c38d5aab1681 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:08b41cbd-df3e-4533-a949-9261833a782a phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:03017b9f-2695-456e-aa01-9495054e9029 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6516d887-18c8-400e-9ce0-91aa5c28ecb6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4192bb1b-3ae7-4523-97a7-a0522865efdc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba671388-2e6c-4956-ab50-7a5be20fb891 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67baf848-b0c9-458a-a70b-e04ebbdccd3f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf3731f0-fd53-4679-a735-01e3b20587f0 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f130b42d-e788-43b5-a668-0ac1bb5496c4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cce584c7-de48-4c49-be15-cb55b937f625 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a014673-6238-4ec5-bcec-7eb1fee52c1b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c431895-0a5d-4b97-a7e7-7a8f4e053043 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1d99da1-f600-4d44-af38-bcdf48339327 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ddced02-fc22-493a-9566-d0d0d578dcc6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e21f7e6-6be4-4ae1-bc8b-b9ef879c3217 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae9c0748-dca3-4e25-a2b6-2affe9babe1d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:99d6a09c-10dc-4324-a0f9-c5018b882296 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:936ea95c-8c84-41e6-b3ea-9f7af35dabd1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f5c810a5-9ca2-4ccd-b7e9-2418f4f95975 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2e0692f8-f58a-439d-a4a4-d45af521db45 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:36833199-9976-40cd-ab10-3e33dd144bbc phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:38192384-52c0-4399-9650-afbbd77d7e5c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6183b9b2-be58-4236-9e99-5a4e0e0c78b2 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:026edf8e-ea75-4411-a190-a46038474b88 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9045a2e4-af61-4086-9f6e-c4de9494b386 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f7ad7f71-53f9-49cf-819c-d37b965c84e6 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:90db8b8e-10db-4d4f-b51d-89aa59d9b36d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e3d6b179-669b-4fe7-addb-9fd738f553c3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ca61923f-25b1-4824-9721-0210313330bf phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:08f463a7-6a99-4c69-92d4-e501ea84122c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:008545ec-68f2-47ec-b149-84ead09a6b11 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e6758216-1544-451e-852d-750079a77693 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86e5ed1a-085a-4106-a4d6-221ab1455c8a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:214ed142-1fe4-4e4f-998f-6f22bc8292ec phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:49c20c35-50d1-46de-bfd9-f78f3e21b80c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:848afc6e-09d8-43a9-a1ac-b6b64f333540 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:999aae69-fe4a-4db3-bba6-d261a87b193e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c71a210d-61ce-4e2b-834c-0a0c930d0a6c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f7d7340-6888-4642-80ef-00c542ff3251 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c72e2c18-596c-4ce3-8e48-1fe427dafefc phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:172e7f2c-4957-45ed-af98-cf3a32abdcfe phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3bbe0f8f-4544-438c-948e-3238c6fe3021 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0eb6e535-7df6-48aa-8c28-ad0f76c42066 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72099855-a34d-4922-bc44-7e828b39ccd5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8543b597-a627-41a6-b149-fc82934f8a82 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0c970d3-3171-4527-9611-f13d03122f02 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4bcc5c18-0f57-4ee8-bd82-1dd4a4e9defd phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bcb26b6d-1763-4ace-98b7-88c08758736f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23aa80cf-8625-4866-8a0e-90415650d5b6 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60e1867e-246f-4ceb-87b0-59d95af7df6e phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1700aa5-7489-4e2e-ac78-2413a8c2ddf9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f4bf289-f733-431d-a2bf-e3d43aba36b2 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb4e52ee-9ffb-4c91-96ef-fbe455534ea9 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30578af4-369f-4c86-85a4-32849e92e226 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:39495a69-1eac-4c88-a1c4-66c7e0299d9a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b2a8dba9-9c09-46cd-9246-d3d46bb877d3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f261b5c9-b040-4d9a-8d94-9e6cc09bd117 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a72da1f-ccec-44df-ad57-60d3bb44b29b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97f0bccc-b7f6-4909-ae5d-8855e5d85a1c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa77935c-9543-415a-86b8-66802036bc96 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a073e8a-cfd7-4ec0-b4b6-c85cc130805a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7e6514a-5d2c-4877-8276-bd7459e3a273 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13a98293-9e09-4353-accf-b985e55340e5 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:37933018-a511-427f-8954-2687c4e10c5b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd17c69e-abad-45d2-bc04-e735c4643e23 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17114189-8ac4-4fd8-8044-7cf8365292b3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d5d07ac-8864-42be-84a8-dc280eb6119d phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a28accf-627c-4a1d-9230-26605a463f8a phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc54bfa3-8442-44f9-bda7-f962e6252c77 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2094bd1-2a85-4b65-8a9e-446f686402c1 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbe7f75f-45a4-4bd5-84fd-9090a14a9d1f phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b918779-e4ef-4263-8ecf-5ca154c861be phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba0aa8a3-1ac9-4f7c-9750-8936159eaf60 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47ea9f93-60dc-4b2c-bbbc-4871dd129e40 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b20998f1-38d0-41ed-b49a-e532e9b825ab phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:522aafc3-fd75-460d-8e9f-f07ca794675c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1cc6e345-32e7-4945-94a4-d86ea5bce098 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9046a67-a2e7-4202-a4bf-8257909b7544 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d9a0f360-36a9-4db0-b99d-8e830ce6a1b3 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:acc4cb9b-3429-4eda-89bd-2c1be297f56c phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0dfd82b6-761a-48b0-bb82-74b2b07167d0 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c8f0b09-7cc2-40d3-93ee-704c5431e35b phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c4025c0b-a0a2-4ddb-9d82-58df812d3dd0 phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:31c2d0d6-7398-411b-9a2a-2dd1de694501 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:959fb6c0-e355-4650-af6d-6b8c486cc18e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cfeb5b0f-6f60-4d3d-925d-2088ac0104e4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:55081c08-ff22-4b13-a768-12b95defb1e8 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6ae0f398-e1fe-45d7-a466-1ed3847f9645 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7c4c89ce-4dbf-4665-bb2a-0481ad80e85a phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a5a22164-06a5-48e9-bab4-ff4ceddb8da5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6d4fb345-3612-4956-9409-cb8bc25601ef phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ffb7a4dd-f953-4b7e-92c8-09ffaeda4c5a phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:33d71315-347c-4d0d-a32f-e5134835b60e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4f7453f9-36bf-4033-9fe0-3628ac46ccee phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cd4db345-0f7f-4000-a4db-aaa33c079d81 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a6374d9-3c9e-49de-9936-bc14be419593 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c83b879-a69d-49a2-ae58-39d77a5eb0a4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a1442c4b-3629-46de-a2d2-148c2187569a phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04c095d4-9613-4d3a-9d05-970eee14d1dc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:665e1b37-e42c-4628-8603-dbafa77f0993 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:045dfe42-b680-4312-90d1-fd04394d9994 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b6b23d3-83d4-44dd-bde5-f01b68507e16 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:de7eea27-5af8-4e09-931f-b33621a7068e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc5896ed-f59f-4868-9516-a72b211d67c8 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:19152643-375b-4320-aa7b-6f44bb91d2eb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36a2c4c5-0806-4bf0-b9bb-fef5d1638066 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28cd560d-43b9-47f2-8a95-728b99ff137c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e87de3b-3661-4496-8527-36e750f93f1b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a337f8ea-1dcf-4741-908e-ecd6b2f72e99 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56c05286-74ca-46ca-aaf2-4ac7f4a79efc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0176f058-7ece-4273-8af8-1b1c15e4b6b5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9b87561-0239-4972-93b3-2b15d8e35488 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7522e0be-e753-4c35-9019-d43bbab1d988 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:564fc36a-27fd-4bbb-9927-e56fb149e99e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0eedd2eb-4331-44f4-8731-1b235bb3aecb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6d6bfa94-f676-4175-872d-133857ae0f7c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87970452-5201-4d82-8981-a0514d703777 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:93691b8f-f82c-4c64-b28c-c3ac023253f5 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51e0a5e9-312f-4131-ae3a-37d73bebcbca phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a87ba7e-fbae-4e2a-a85a-34a4d4c58e6f phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb82b519-74e8-4925-82f2-bea9070be310 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a393e66d-9002-46da-a943-fab17ba95016 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34cb80b3-4613-44d2-86a7-5293901d0c18 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f448a7f6-145e-4420-95a5-20d512b8d348 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fd1c1e2a-96fb-4aea-8cef-31ec62eb0a9e phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96cfee1c-2bb8-4c6d-8c19-3674ab78e286 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f30cd48b-a0eb-4175-bd76-a0c9ddbd55b0 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90990efd-63f8-419c-bbdb-7a4dddb7aabd phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0564e38f-8b20-4b7c-a2b5-12e41304a5dc phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:382ff7cf-cfcc-4700-aba7-ff7bb8dc0c8d phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd144624-60a6-4842-beca-9eba4b14739c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c2eba66-2450-46f2-acf2-120349cfc06b phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:575ab456-0f08-4ec7-be24-593d55e22717 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:55e5cb00-fbd6-410b-9670-d16faf084092 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a7fd399-76de-4bc9-905e-f2e111e2457c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ecd097b1-17c2-404a-a720-35a30f21f032 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:066e66b9-df0f-4431-a69e-215eeb867dce phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2758ca2f-db5d-46f6-8aa6-faa38df06b95 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a88f803-0b71-4036-980d-f248b9f2c2e6 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2926b79-5464-468e-ad9a-1616cf9fd7c4 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7be41e3c-f9fd-4a9e-97eb-cf1108fba433 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3bd108cd-a6d2-45b9-b8a8-06ed1453d874 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9fcdc99a-bb8e-4f3e-9bb8-b82f1046ae57 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f2c57ac-8a97-483a-94d1-fef30b97bc95 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bb2f0c89-f0d8-4868-a54e-e7653aef21eb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ac2339b-7478-4a44-8334-a1c09e5366af phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1bc13dce-fb01-45d5-b0ed-4b3ed2907afe phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3cee401-1d11-4e55-8d6e-cb05e1916d87 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50651116-890d-449f-8e8c-bd590accf983 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a703b64-c509-416f-a49e-6161cc4c50cd phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57722f59-eee2-443f-9619-33090bdcface phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:542fe831-81be-4ad4-bacb-4832ab4862eb phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e5352903-6a0b-492c-858f-8f80fda54f0c phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e168a9e-dde6-4938-a391-552bc1294348 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9069b7a-cbf9-49a7-9754-da53c5674852 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa47200b-e828-4f6f-8b52-3dc0db4ea0a1 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c96dfa3a-6c31-49d5-9701-a9977eff6bb3 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:b15f82a7-d3fd-4afd-90b3-5c82112f8986 phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6ecc15e7-40db-4be3-8487-992a751d1fa7 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:54c1913e-4a4d-49a3-81ca-c66b8263febd phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ae18a455-f08a-4920-8674-540a68f8b6f2 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f527ebed-ebce-4d64-b55f-4ffeaffdf89d phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:63581426-cbef-40ac-a2e9-12f9f9e439a6 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0ab08c0a-f0d9-4dd8-9e83-3f5293c99784 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9eb0580-f3b2-44e5-a9fe-ef552e5dbd5d phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22e07335-b60a-487d-b477-bfd1cfb6328e phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c777f89-04a8-4df4-96a1-0b60185f99e2 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c23b17f-b808-4228-9053-6e2b175bab3b phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b47a8ed3-26cb-4d38-9ecc-435b691aeb15 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5364c681-d4df-4f70-b219-63baf9399585 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40dd0408-cbd7-4ffa-978f-569f3889bcdf phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e964efe-df8e-4098-b18c-ab9e5ceee2c8 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1c93f19-ecc9-4358-9b58-acaac1223adb phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0811ebe8-7272-4a65-ab46-fa747a943907 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:834c01af-0ff7-4d1a-ba57-7c3b8668f6e5 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d03092d0-2f3e-4472-a42e-fbb401fdb986 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0942582c-7f62-4ce5-adb5-0047bd8be92a phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:145e1ab3-ac41-424f-8759-edafe829a020 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a86906a-70c4-4e36-a8aa-896bd36050ad phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6b9ac53-62c4-4fa4-a9d2-ed8975a4b3c6 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:84fc73b6-4527-4119-97cc-d381fd3c539b phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d162c04-d390-42ab-ad76-572d303f8e86 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e65ceb0-84be-4814-af32-990e1b4478e7 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8eac4811-ff28-4231-9e0e-f4a359caa5e3 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1d382dd-c7cd-43ed-a981-3da9b867f0be phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:002fb4e5-fa82-4f94-9c23-e3054de8778d phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b371be3-3a2d-4d5f-91a7-f456e6f0a05b phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c08aeb2-1a28-4844-a197-905f41c94c70 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e86675b-8ad6-4bc1-abbd-592d64524b44 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1825b9c1-b751-4177-906e-08c3c2b5c4f0 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04fb2f31-4161-4d12-8e9e-5430f2c6bd47 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f10a0a66-efdd-4ac9-ac94-25608a78e127 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec78ab92-b296-4282-82c7-cb8f5bf22b97 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7673489-d0ca-4360-b0a5-0b757d341279 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab6c7814-02a0-4b6d-9ef8-3b301fb26362 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3156935c-bf0d-419f-b243-e02b83f445c8 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a2aad12-4278-41ec-8b12-5fc3c999a97f phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b91bc87-b58a-4660-9a8b-aad3ca32eb52 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a3db12c-a2f8-4a42-8b6e-db65dfa38eed phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dee4c67e-2bbb-43fe-ade2-72849f44110a phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e853ee9b-439f-4690-8f99-9d933051e061 phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:9f8cdddf-08e9-4ae1-89d4-e0b64b24846c phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:44188123-08e7-4596-8e46-0a3f0a471698 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:20c2de8d-0b18-45a4-9975-b6253b2f2bac phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0c8c8313-f2f6-4615-b14d-68d0efd39a68 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cdf5bebc-64be-4fe2-b7fd-a65e436606e1 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b1943806-df86-43d3-8fb8-27098705e97f phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6838649a-7f95-4955-8255-eac7124b38b3 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1abd126a-b6c5-4d17-b9a5-8b2319932702 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:62c062e5-2bc2-48d8-8c23-ffcda730bd5a phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b55adcaa-fa1f-495a-a35c-5bb3984cf1ec phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a6e706d-57aa-4fd2-bf27-9f8d3bae745f phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af935711-6640-45b5-beeb-3424fd67d574 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:752a72aa-7ee3-47f8-add7-61e1f6c39f0e phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57c5c954-175b-42b4-90a3-b5358c1eaad5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36340c0d-2bcd-44b0-ad65-04968b3915b1 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b8b628e-50f6-4630-9910-c4f2ef122492 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:415b14af-b87a-40ac-b02e-dc46009d88c6 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50ebf884-ce19-4104-9585-e0aedc7e3049 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46c0db30-a98e-4ea5-ab5d-de9f6ddfc991 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aad4789c-7d5d-4c8a-8465-29d82f5f813e phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1522362f-a72b-47f8-9ae7-b9e452bfcdf1 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d50a32b0-35ec-48aa-b48c-2c681dee6f9f phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f77fd6a-c400-4576-bb1f-262a9051f017 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41a872a9-5cae-42ec-b3b8-19a5a4f2e217 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:65466a53-6f43-4e74-9946-6f9e2ffd6cb3 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f15d2ca-9939-46b1-86da-060140cb4d04 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7495f46b-c6db-4505-940c-3c096f297288 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:99590e0f-f843-4d67-a064-287a989a7086 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d12eb34-ec2a-4b30-899d-20aa14940308 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6bd69688-fa79-4e11-ad7e-f5761f63bd65 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1d278c4-4cc6-4e02-985e-f0eee4252c0a phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:804394ac-5caa-4d58-93e9-dba2674d185f phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a9116ff5-7953-4a73-87e6-8619f13ec31a phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c02dbbe5-4622-4b0b-941e-4e98c304a6c4 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:721aff7c-f924-4c2d-8588-1ab8b357a329 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab1cf78f-b58d-480d-9493-8ea4af8a09c0 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60488d3f-4a6e-445c-9299-5293e982ee90 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66d32b9a-f576-484b-95da-5e45a905aed5 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f31a79a-01fd-4174-800b-311ebcaa4389 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:26c7d917-6e16-41ae-b542-d02767d8c25b phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06f22fcc-9302-4b50-a564-28c0a2ef8431 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b9ee820-f868-45aa-b5a1-0086ce445891 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:661e9ca4-2f60-4eed-b820-b7e83c4291c2 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54d7d16d-e7e7-48f8-ba7a-c27e7c3555d3 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1620e2fd-5347-4fbf-a72e-bf110a5a366d phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1aebf94a-a4cd-42ad-a5c9-f89c161af037 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:12003f4f-6b34-460e-bb30-619e98fabdc4 phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6527748a-761f-414f-9844-c890d87bc90e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:37951597 uuid:326e0a03-5dc2-430a-bd29-abeb67c25875 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d629902b-03de-4205-8068-b4384931fbca phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:37ed2f57-da26-42e0-b04c-193cd371e10c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d7ac7835-fa41-4c78-b8ba-c21bb8d58f4e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:70ff0ef0-47a9-4ac5-b62e-1ad94aa04b52 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2fcf4a5d-d940-46fb-903b-e2ed2801457d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2be92c9d-b81f-4161-8dcd-1f8143c601a6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:76f6f336-e06e-4fbd-951b-a74c6feb9607 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2fd031bc-d10a-47b7-b744-223e494a2043 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ac205f3b-6402-4f29-880c-5d014e840cbe phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8a3755c-8d0c-4213-b91d-d46714c17204 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f1e66f2f-990f-4362-bd92-9637c3cd2e54 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c696fe8e-e225-4b21-bc75-698cf92270f5 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fabe35c1-d388-4fc4-b027-2c489a37d043 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:58f5e0f9-868c-466a-a25a-9c12d1975393 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8972a555-9713-4ba6-80c1-e67e3b047e53 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4822e61a-a813-48be-ab17-c3e02fa689a6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:305aab42-0000-48e0-8eb1-425646e7614e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8d212270-a690-4ba0-ac1d-aa86d75b0178 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:12dfc0c6-fc93-44f2-86a6-51d84481013b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ab3751c5-4729-47db-8f1b-1c6933ff2232 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f8f0c9f-6e43-4392-8efb-d60787e87d77 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6753e568-e57a-4a2f-a71e-45eb24aa6c27 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f35d6733-7291-45cd-9e2b-ba61dd26a955 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:22fe6d45-a0fc-4d3f-9a4f-e3d22bf2e414 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5051b10f-0454-486b-a61b-88fdbbb521b6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9637685-5c32-43c0-a10d-c881d08fc82b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c17ea34-8b3e-46c8-81a6-1b7b00bc7967 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78f70f4d-9619-4f30-b511-db9fb95fbc15 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:be5d04da-3e39-4818-b916-7b7614938149 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed890ed7-2d37-475b-bab5-e08e1a875e8b phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc1cf055-8eac-40a1-bdf3-2532a4cc2829 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7eb7b563-1063-49af-88a8-4eb6e35dc300 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8fad7e19-a418-4b5b-9f83-ac39daeb010a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db9d76fb-edfa-4e01-b66a-c338705fa23c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f61c3b71-13d3-4644-8528-0f6281035786 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b694db0b-87bd-4035-af54-ef8b92c471b1 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7fbee5df-0283-4308-9211-ef072da8a0c6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:32f65e0c-2b5b-4f54-b151-e10e2f1d1932 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e2bc4cad-7e28-40a7-8d12-8e50966bc40d phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c5b24258-7c21-42f1-803d-f6a971be57d3 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40ca0777-3972-496d-beb5-3591cb0a62aa phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5eeaa77a-7d7f-42ab-8198-10630295fa70 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0425091-6051-4e1a-811b-0b07882bb5fe phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b8ceb517-140d-41ef-8556-fcbb83aa4e46 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3eef0fe-9aeb-431c-b8e2-d9677af17f48 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b363f7d6-b2ab-4bae-8e64-ee5499080bcf phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c342a177-9e6d-4f0e-87c4-2107ca3df26e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:27eea13d-65ea-4b00-9475-0aadba4bc038 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:164194be-a914-43ba-a422-add03dbd3002 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d753054e-428d-4b62-a738-ec14d2272958 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6821fd70-361a-4caa-8e83-e2a4ce5afd07 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40e0fa69-8cc8-4526-b681-314aaf99a561 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8462f40d-0cac-4151-829f-912fd0daf967 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a630e5eb-1a4d-40a3-85f7-41f3ab3220a5 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ca7fe42-f159-44cc-bb3d-a16a161c551c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1a0e012-d2af-452a-a1cc-276f4cc15804 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b618754f-53ff-4c62-a164-fd3304d1a43e phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f492a0af-d726-448e-a511-7ad92e3cad86 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a232e18-89fd-4a38-8355-984e211c7cdd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7579658d-8b88-4260-8803-65743816c399 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:305b8024-3780-4470-b58d-9a116d2799a6 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4f3274f8-b02f-46ba-9328-fc38e5eb21c0 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a2c72ab-0b57-4101-85ec-48948d8ac1c9 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:726006c9-a7d0-4e0f-9957-76d7fd321d41 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bacf49bf-5673-4548-9e36-4de1780eea83 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a3e4413-a022-42de-aaf1-39699930e497 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce51d1e6-ca29-45a2-b29c-25d3f4c19d65 phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4eac6775-91fc-4809-a24f-36adff09849a phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5f2703a-e807-412b-b3b2-0002aa0f87fd phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:c5279bd9-001a-486b-8b92-a3d0d16ef20c phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:881f5a65-82d8-4611-b5de-9b28bbeda978 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4aef8ea3-1c38-489b-b2ee-95b7a5a7fac1 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2b6f36d1-1058-4d2d-a79e-cb01a630f883 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:594f8ce5-408d-48d5-b438-03fc5951bfc8 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cef8c59d-48db-4383-afc4-d7a281d4edac phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:20d9e976-ca11-467f-b691-ea9382c3e765 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1248ec40-abca-4ab0-ba7b-222e04b5d213 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a755369c-b56c-4e64-975b-90241ad2c8b0 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b3c8add9-a63a-486e-9e7c-6b30c4a754d7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7606eebb-eb3e-46c1-a025-00fe816c770e phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eec93339-1c3f-4a8f-83fe-f8b53683fbaf phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d659fcdb-1bc5-4622-8850-9635d62fdd66 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a7b94c0d-d039-4c2c-92ca-09220dcf15ab phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:262be3ec-ec12-4d36-9047-1ccfe10c5ea9 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6463eb1c-5b96-41bb-91af-8dc6dc490505 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ef0a3a7-b362-4bb1-a153-914296bcc358 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:984730d3-043e-4e55-99fd-cc81df28b149 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4acf799f-ed76-4d8c-a931-c5ff2217cdb2 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4ff917ac-fd89-4463-8a3f-b8072d4c4976 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3116028c-53b1-4b0a-88ed-04f8950881a2 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef164e59-3c10-49a7-9a3d-9fb3e33bb668 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:971f93d3-386c-4cde-9ee1-0314839dccc5 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0f08678-d423-448c-a2f7-db80259f2d86 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e706617a-5a54-454f-b65f-bfc97aeae26e phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1168f12b-c4e7-424a-bf19-dfc4fd9c61e8 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50c5e4b1-5637-433e-be0f-7305647acd6d phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8a87bfbb-754d-439a-8ff3-49d5c75f4aa6 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e876e643-dd7d-4376-b9aa-0adcb9da0525 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b28c8ddd-5434-4b63-a9de-97d3dcefdd52 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76968025-c133-4e39-90ed-a475e8d790b7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a3a803bf-6cfe-4423-b57e-a0235609de65 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7bb4bda-387e-4a98-bf21-183d71bd06d7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4a04171-f5bc-49a9-bacf-77959f919ebb phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c6404ca-385d-4b81-ad35-2f42c95ebdf9 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bb173018-cb06-42cc-b8b9-45e2d5977fab phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73cf15d7-4107-4ed0-ab9f-6e5fedd519db phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:718e9245-1686-452a-93a7-12bd9825256e phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a25133e-2aa5-4ed1-a105-cf6eca1114ae phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9987ee0f-0040-4146-90d0-3650a366bc78 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:429ce8e8-fa75-4088-8d9e-7befa7d67716 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e4b37992-974a-4975-94a4-26568a5e36bf phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fa07763-c41d-4101-9c5b-e1a14c89702f phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d8183051-3091-4273-a646-adcadd095da7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f122bea0-92b0-4c28-913b-d5d669fc6e50 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ad77323-9aa7-47d0-81f3-3865b78b209f phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c1fd447b-a0e0-474b-92c6-15ff9b4824a9 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b15ad697-6c38-4f14-a219-f33cc2caf92e phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89c19e6e-f401-4b7d-a0be-222d20686557 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25564cc1-35cc-4f2b-b8de-ea8298007b6a phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afa7164b-ef96-40e7-85df-173a99a716cc phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96f1ce67-c52c-44fa-924b-fd9019d732f2 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a424e70-635b-4dce-ab79-ae39d162dc83 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:83fa50c7-e998-4d27-809c-001a8922bbd4 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dce72de3-4ddf-4fc2-9163-5fd510cbabee phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4519be99-025a-4f32-89d6-e7d5cf14f108 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f06d6139-0aeb-4a47-a1f0-277676d8471f phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2e112810-09cc-466b-afcd-e9d119ab0f39 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2ced0537-35d1-4e72-877d-33650b00d922 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73fb955d-a41b-48a3-8a0b-0de423e9cd9f phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:233c37cf-6242-4766-8be8-de2bb13a7ebf phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a02495b0-c068-4652-b1a7-0a6f9f6c1f47 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7736cd86-4e27-4e77-bf72-5f216b08c4fc phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f5d7d93-3c1a-457e-aaed-6899d62a9793 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8526ed0a-ace0-4a19-9f88-03fdfe69e0f7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:103084dc-4b61-4802-b726-43593f9dc2ad phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c59165b-8a03-429c-98e8-7791ae0af815 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86bee31d-31ec-4365-8c2f-27e6da592ddc phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0a3de4fa-82d5-4fba-beb9-e79850961c89 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9348dc11-b656-46c0-a472-f4df34d167c5 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c398c33e-10d7-455f-beaa-40645c53ab1d phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1519d43-f685-4b90-91f3-e6492bf3a2b7 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0893b93f-8f73-41c8-8fa5-91e2cb3d734a phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cdbd6938-60ee-4f10-9912-ff4a20795bdb phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:28ae87b7-1611-4d9c-a288-702f651a1a90 phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:bdb83444-ef9a-4449-9125-f0d4ef3458ef phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:68f59ffa-0a5d-4e02-a1ee-22c570fec2fa phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cb46ecf9-8ee2-4538-b19f-5d46d55e80fb phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f3600d4-eb0f-4868-b999-b7ab6059ffb9 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3c10d1e1-7064-46ca-9311-146ce4777d8e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7ffb0ab6-47e9-44e9-9de9-3de4a51d426e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:607d09c4-c9bd-470d-a698-d584ba6b0907 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:418cf475-f890-44b7-9383-3d401a84b748 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:df6f3c2c-b150-489a-81e1-75b8a251d37d phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8d3aa695-cbb1-4d35-8f84-6886a0919fc8 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:703b2832-bc84-427b-9f44-1f0825438c36 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:80c3b4a2-293e-4b3a-9ada-a0e3a47e9483 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1075a36a-5186-4fdd-a502-c9b78b719a5a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f6f2c92-2600-4fd2-93a2-38538e427cc0 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31a116c6-2d3f-4df5-88b5-95d05c0ce42d phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c0cee2e-dd22-426b-b32c-7d0dc9787030 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c5510e5-d889-4ac7-8842-49f9adc910c7 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5860ec28-d3d3-4f8c-94b7-5d11b31f5dac phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:caf6da77-aec2-4861-963e-2a3688a7a3ef phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9625a0e3-8c34-4a00-8a03-7fb94b5e71b9 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f9ff54ce-6533-4de4-a385-b57504497e93 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:866eb3bb-900f-4bcd-b0a3-d3e4210b8e2e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a85075f1-e51a-4e49-9a5a-ff07e882d46b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4b16572-7c9e-4da3-815a-4f96303e244c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2825be75-146f-49ba-b9ef-3511c8b0bfee phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bcda2e3a-d3a8-411d-bcd4-ac0dae6cb952 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f43a5ae8-6a02-42b2-a05b-2ddae03ac167 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:036109fc-7f6b-4cc1-8b0f-20361a0cfbbf phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f5f0227-9236-44ee-989d-a3af37f8860b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5107dcb7-1357-43b3-a756-1719b6c894be phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cae473cd-8abc-4cbc-ae5f-3ba40f27f1e7 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4455d485-c557-42f8-9ac8-011ccd5be2a3 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7c14c64-1ccd-4dee-9ec9-babbd7851518 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70a234e1-c574-4722-a5d8-ca586bc3eeb8 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9959f15b-9456-4826-887a-033d4144b695 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1980821c-981c-4989-9cd9-d818cc2944a2 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f70646d6-862b-4694-9711-70a38a9dcf62 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15a2f227-ab1c-42d9-881c-a1e8c5d791ed phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c2d93298-dc32-41ad-b5b9-845d9713ad5c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ede730b-639f-4d2f-b0a5-03efbc427eaa phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd315852-b06c-46e8-aff7-1b4738a527ee phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:12bf6df9-a48f-4a0d-8db5-2ee77f759218 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e849729-f790-4f72-a330-2b008900c61c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7bc80f7-c4fc-4e45-a578-81c9c0d52428 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:489b3e48-a238-4979-b90f-fbd11b02a393 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4efcdf7-5489-4184-b7d1-c6ee94b35c4a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1bd845e-bbab-4927-b117-e4acbdc17ff6 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87ab3c9e-cc34-45a1-9247-b9bcae067b12 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f1b8382-5261-4aec-bc25-aaa9344502d1 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0c2617a-139e-4fda-b4ae-eda8d24dccfc phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:770bee51-aeab-4c65-96fb-2ef5486b497b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7d273bb-913f-4ccf-ab5e-2f066124fe88 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc08d392-9c6d-41b9-934b-fd0b0494d051 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa1c09c3-4504-4c06-8cdc-81fbfd83f16a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:935ab364-2403-40cd-a1b4-bfeed40930b6 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:3cc058a4-2bb7-4dd4-bcce-dfcfd3250bf8 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:acc806b3-5ab7-4a99-aac7-a59a19bc9919 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2e47ec5d-a340-4df6-bfb6-968a6c22f44d phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:fb6d3bbe-faf3-4652-a432-f67499ae0072 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:24617d99-152a-4c92-9c4f-9ef743c33ba8 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbd573d8-1f83-466d-9625-e716a1f8d0b9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ea597849-b720-49d3-a39d-6f445c429c3c phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56013b09-eb75-4c66-8afc-c55095a34549 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e88caef2-6aa6-45d4-b975-9a65b58a8270 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c30b4e4-f2d9-466b-bce0-67d48ff5e4eb phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:94a124da-9456-4209-98e3-eb2891942af5 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:43dad136-030f-4fb9-8736-735027ebb4f7 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8c9fd62-ca6d-494b-b259-4fd2b934d1c7 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d36f8d1-ff10-42ab-b43d-0e7fa5783b91 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f194da7-4bfd-4e91-8f12-5c8fe632a1d5 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6586b544-d746-4f6d-8105-8f58c5e3fa3a phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f296c95d-9b9a-4ce8-8b32-7227762199f1 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f07b6bcc-1147-4c7e-83b5-9bde78080bf5 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f7bf3f2-73e2-4217-b47f-8739e1752abc phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f32f78d-4ed9-466e-a744-03e4f96573f6 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:99b6bd61-0d71-4255-83a5-82d575c9fd26 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a234bed3-8ff9-4c73-bfe2-a0699d6fc4fd phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd640d49-a5d7-4aee-94fb-b1d368127824 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afef8b29-d329-4c08-b4e1-f970d7d2ad0a phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:408e31bc-bee4-4fdb-b121-c2d5eb2c4ca9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:367c88e9-8454-42df-b9c8-bfabf3c7dec7 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a790178f-d279-4820-a49e-e927a642c197 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c27910b-2570-4741-ae94-57787dff6118 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3c75d7a-f7e1-4476-b203-e96eba9b989c phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8890bc0-5301-40fb-818e-4f79220578e1 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97c9cd5f-63d7-436e-af00-d5ef150c4a53 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0d16b051-59ac-49a6-9971-52101d3f28c6 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67511343-2f16-4689-9fa4-d7bf9ed6207e phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:614c5b8d-9a5b-4a96-920d-b861f61eeae9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c0b65600-8d10-4595-900c-6bbecc9e5f75 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8bbeb3bb-1450-4dc0-b329-220afc8f54df phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4071675f-d272-4ede-856b-210091e07385 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd35ac75-a2df-4452-90d6-35ba30c21ea8 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8590b2e7-c2d0-400a-b0e9-bf7c37b606a9 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8ddf35af-389f-4adb-ac65-4f8cba099c1f phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:042ba77c-83d9-4f5d-bad1-6f6f03164214 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0efc837e-bd77-4787-ab80-238b0360950e phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:98587bb6-b093-441e-8808-5e61b282cb32 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a7623b9-ec31-496b-8098-ad0ed68bbd11 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4555f5a3-7808-4155-a74c-827a913d184e phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fa8cf38-53f5-4799-8516-05f2849ab826 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:3250909e-40b8-476d-a562-d18229ae48b0 phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e1a6f622-436c-496a-8d9c-eb91ebea1cc2 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37951597 uuid:d69881c3-288b-4b4a-97b4-27cbbb2b650c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:79661e0c-1a59-477c-8dff-44a22eb87a46 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d5925d11-12c2-45e9-8909-7ed623d221b4 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d9f86abe-fa74-48b6-b151-9a2ec5edbe1b phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df03c80e-805d-4792-968c-796932ae26f0 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:42f99143-3c37-48d7-a564-ffe2772f8d4b phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7a85dcb-8716-4276-a5d3-1e97ff8a811c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1808e3c5-4788-41be-b0e2-43588ee2f219 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd5ef540-3516-4454-a352-6df0befd1cb3 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44e63672-2630-4564-bab9-e00c839396c7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:301c1a2f-5836-4941-a96a-dd36423be378 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bce21b38-f790-48b5-8a19-1c9a0502e41d phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57d17936-472d-45cc-86f2-687d81a7a9c7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c235cf6-5db5-451d-81d4-aff59373b096 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d925a3e6-a1ee-41db-ac01-3176b44cade1 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0b3ce4f4-613e-4bb4-bb59-365585b1b1a5 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:038151e8-9eae-4535-94e3-43fa802a4304 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:29b49f00-5279-48de-8e17-e581da3742bc phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9a763ed5-ef1b-42c6-b106-214dc96e9559 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f95e5c7-36c5-4fba-b704-918ac77891a2 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a350110a-7276-47c3-a077-738024c087ac phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d2ce035-1366-4c32-b0f5-0f90f87b3c66 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d247d1a1-c7ea-4c36-be90-e74c2eb7f760 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:202ef18a-e77b-41ba-b52c-7892c7df9c98 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f743f9e-cdac-4a81-86ba-d6bfd88697c9 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc976fe7-1d07-4dad-b4a6-ad58958ab470 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:63ba7ac5-f152-4641-aeba-eb6e199320b6 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b9a4ffb-b5fe-4ee5-9b3f-f3237d51a6ca phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:74afa8a2-e542-432d-9418-9caeb6927987 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25d8a430-3bc9-4374-9d21-5f326befebf8 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f3e323b-c8f6-4873-a4b5-20b21909a68f phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f8cc99d1-b5e6-4b27-89da-aba718a59ce7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5ea5c6c-4eb3-4498-95ac-48c9054d505c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8f8b01d4-c2e0-4bce-913d-a1f7acb3d319 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7953645-1099-479f-a6fa-bbe4fa15fa76 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc385cc1-8030-4a2f-ab10-c70a5bb128bd phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d0ba9755-7f84-4f3e-9315-6bef06ed9f73 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05340820-a41d-48de-bfbc-93aed78d5400 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4de78a59-ed4b-4ad9-9c4b-888477738065 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a29d4c1-1127-4195-9620-ac37ea17588d phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:996ec862-06cc-44d3-b4c1-a1207d584ac4 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b5f05ddd-6de8-4bf5-9520-0a8d3b425377 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4433cde3-abe6-43a6-9996-8c149d6e72b8 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:38d96c2f-c5cb-4f98-8e2a-76fe6b8a1eeb phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b05dea2a-ecbc-4cef-8bfe-95d15b121bf4 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d57afff0-0812-4f73-aa95-7d4a765721d8 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a18fca93-7afe-40ee-b117-fed8b78edb53 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b4cc14c-1c9b-4533-87a1-2707ee9c5632 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac5ed0b4-7eb7-4f5e-af1e-d226700156a7 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb6fe006-8305-4b90-b349-9b09795c30be phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1449999-a72a-4ff2-b846-dac672cc852a phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a018d914-8bc0-40e1-9764-da4730d9e344 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf73d57d-4ccf-493c-926a-1fe7f7e9bfe8 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d7bbc79-603b-433e-a680-069e0d9c50e5 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66b586da-07a3-4ec2-9afd-8241d2acf1ef phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05f32496-14e3-45fe-90d9-5d2a596e4b38 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e6e9759b-9e35-4554-9796-4daaf8ac3e11 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c9564113-a445-487d-a9cf-6174800e3605 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:267c8b70-6c12-4e6a-a856-fc41129ec5b2 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31f2b42d-b163-43de-acae-d51fb871312c phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20a949f1-37f4-47ac-9de3-bb6f83f649e8 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d7cef9a-fc6e-49c5-984b-9fc79b21da8e phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:a0a060f0-79bb-4e3f-b067-678863311875 phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:7d14bdf6-da7d-4763-ab26-492352ce72e9 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:393480c5-7e36-4da5-be18-b95a2884b939 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4ffbc2d5-e0ce-46ae-b650-af972e235011 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:db719fa0-838b-4705-b327-52b59ec1f387 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8f699a50-3e3d-4228-bfee-a458a1170caa phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:24736e58-b452-43db-8542-8b0f0d099496 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ee47d383-95c0-43e5-a3fd-7b4cf122115e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:01eeb966-7959-42b6-bc80-bcddf5b4b594 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:26b3fd70-2bfb-43c9-b100-e014b88e576e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bd8b3342-af3f-4af5-9872-5dbd9ce5ea42 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:520fed7c-311a-44a4-917d-d53d08b87e3e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8cc27e06-8bcf-40c6-b720-d24f87a45fcf phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a3e13c18-7770-40a9-b7a0-cc565ac7e29f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3086e4e2-ae79-41d9-9856-70099649332f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:db26028f-eeae-4343-b77a-a98d286cfa8e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:99ba3caa-38bf-4288-997c-2d824c793d8c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ac04af6-e51b-439d-9312-ee31c8c2bdc7 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7961770b-48b5-42d8-8c20-fcf78b6fcb86 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d6ab60-d0b4-43c0-b38b-951f1a3103f4 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6fda322e-9917-43cc-956f-50ccb210a00f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0bd29cf7-dcc8-43f0-b028-b5eea4522f29 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e4e32557-802d-43cd-8bfa-f664c2f32c06 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e70ea979-0c54-49ab-80c5-d4a679bc188a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b7a132ea-0b63-4390-8364-a079d2009483 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f73869f-2f3a-4542-9ae3-a9ee74789818 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:625c6f03-389f-4327-8c11-40e17114e943 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f2e1fce-50b5-4ef5-95b5-37d326f2a2f2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f8350cfa-7518-44e9-bee2-f05f6ecad679 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e93a481-e92c-431a-80b4-56594d3012be phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d898f0ee-aec3-4fa6-8487-9e9e0083d44e phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e697411-3e7f-4fa5-8e11-12bad22d9573 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1616e65b-a946-4619-9c0e-c3f2533dd467 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8201cc54-6567-409b-934d-348665c9a09b phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a17c2e81-f4e7-43d1-9440-b431d884c1e6 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:199c0517-7a28-4591-b80a-e05c82d71fbf phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67bd4cb9-18f4-4048-9a70-87e41a747db8 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07e7c27e-ad54-4941-abb2-6945edd342c1 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8ea65ef-ebdd-4bd8-b8b2-8ca7a3d79670 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:73b8bd6d-2833-4bfa-9933-f8e3dc2efdb2 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:87944329-7eab-4292-80b8-90c5dcdd201c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d4a8a00-0b14-47a6-b1c0-5386d3bfbd6a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:431a0d91-2b2a-49ea-b382-4072fae8bc89 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58b65cbd-b208-4a86-8321-c7dc1e452512 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:957b10a0-7df8-4075-8a82-32dbe620b13a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:361adb31-763f-4087-8f93-b3754fb20900 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:523e5cf9-5ba1-4936-8c9b-829733409ba3 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45b9c11c-e4e8-4ff8-845e-2f17ce220b09 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47b11b63-d5d0-482d-b56f-5c74d3caeefb phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f77947fd-1359-4ffd-bd34-39b35fd23e0c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d1852e41-2802-4b60-9e0a-4f869584f2e5 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f169203-9c58-4938-aa0a-4c002b461c32 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d9b45768-b31b-4936-8d0d-72b3fcfada4a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:04468c06-ccf4-43d6-b894-45155ee78daa phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:09f038c8-0f69-4e45-bec6-54d61aea846a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b37b4472-1b05-46be-873c-82ebe73ce45c phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96aac88a-2599-424b-965a-811d2df8d3fb phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48549769-ffe6-4ece-bea9-8ea0ed0d43a7 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a03255e-60ad-4c2b-992b-bcec52002d10 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66e9567d-4915-420a-80b9-d6d02670d647 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec34c9cd-7a32-4894-8c6d-2345c7bc4215 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4c0b86f-6996-4a57-b10a-eaf97ffb6550 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ef2195a-e5a1-4d95-81ea-ff32897312b3 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d3891b8-7ed3-420a-aac3-736b06b37fce phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cc44c1a-070f-4eaf-aa64-34cf3020fb8a phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4000db3b-9174-4b7f-9b01-6111bde251e5 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4f442e54-0fcc-457a-b379-7b670225e9aa phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36b18661-2c30-485d-89a1-f38a7d454a2f phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:493973d9-4a27-491b-be02-5c2bb4137672 phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e20a8ebc-a3b1-495d-a494-ba5c5ae7d884 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37951597 uuid:9c1a2a5b-4808-4c88-ac65-bd5587d5f73b phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2a6dae51-b287-466e-ab7f-3502b8fd6e59 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c05e154e-6667-4cad-9114-649e1118230c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6cd857ac-5cc3-4dd4-9429-feb6e3205776 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5de68f0e-d010-43a1-a330-c429d8d93e5a phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:59f82729-2712-44de-b5e8-42a245edd062 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:faaba538-f89a-4095-9e75-d486b59c26d8 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ec606278-50b2-4fb6-9aef-1e5e7ad4dc02 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:75d6f177-1ffb-4f84-946e-4c45b4413da8 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2e9dff49-5d4e-463c-be14-ea619f52a6f1 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:23fb5146-efce-4fe0-8baa-49f75d8874b9 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c3a1ee1c-78a3-47f6-8bdc-0c2f0187b4ab phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9bc75b4c-18f3-44b3-a533-dd132bbbf0e4 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:63a24c19-c875-44ff-a0ad-5836bccfdea4 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f4475720-fdbc-40ef-8311-03834376bfd8 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adf42b7c-609e-4872-a426-12276e598822 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6de90025-38f4-496b-b9c0-c0363651e700 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4023d87-2a7d-452e-ba67-590b1d33c081 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a52475ab-85ca-4bb8-a9c4-b671b5004f1c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c7a6c3a0-c8f0-4608-84a1-402bdc2660f4 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3f5d8bc-0a43-4feb-b268-42edccae38ba phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af7aa029-714f-4b70-af5e-a359450d3cc6 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dfe06e89-b77c-490b-be20-54b36a79b472 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:115a16d7-55b2-4906-b8bd-77ce8d2a2078 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:514cb8fa-6621-44c2-98d8-403375bf4652 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d529e2b4-b2da-409a-b020-4cfcb66b3b30 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fed698b3-ee5f-4e59-92dd-c682a59ae7fa phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72fdec8e-15bb-4c1e-a0bb-b177177bbd29 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:35ace385-66e3-4c05-97f6-f60ff9b8870f phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1dea664b-e380-43c8-abcb-f4840f89e79c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07dc0f17-2b09-4b4d-835e-9a4b12182cfa phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ab85810-646f-4f83-a88e-f9aadd732169 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ef25f147-92fc-4200-abdb-966d63c90531 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67874c57-72ad-42e5-8154-1665e8b07a8c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72be697c-aa7a-4397-b0bd-516aa7b5d937 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b6402716-e3b3-4e90-aef8-82a2bd6ae6c0 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a5e09000-55fd-4915-8aeb-7cdb4eca186f phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a1ef40d2-2533-4de1-bed4-51b11fcb393f phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8975e6df-64a5-444c-9f15-b7a458b355d3 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82c81b91-6c16-4c85-865c-6b967c986f29 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3e65780-0a55-4886-8380-e9c61b098f78 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85b5d53d-05e7-46e3-858f-25e182f86071 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9aac22bc-5024-4bbf-861f-43d1d681e4e7 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:caec67cf-8037-4e68-8d03-fd4615859b77 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2f449b8d-b875-4fb8-909a-994221a91c15 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6fa688e-0800-4f0e-aa6c-63e272fd9c5c phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e35c894-805e-434e-a548-cff07437becd phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97c2f136-edde-491a-af64-b2519a78ea86 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bdfe5c6d-caf1-44d5-b81c-47fdb8e8fb4d phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd93ab90-4a82-4329-91e1-53e4f427bbc8 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c0a9dc3-9d66-49ff-8a08-b1878fdd1232 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:828f56d6-1849-44b1-b681-7d0d60c88801 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e37aee10-a708-4765-b2ef-8ac774ef3fcd phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:361866ab-63eb-4a6d-9b5c-c750f2883266 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db47f910-b900-41fc-a5dc-fc60a6da35e6 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7aa74a11-fa37-44d3-9b4e-31d3217ea24b phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97f1bcdb-b749-44f5-8966-4ec648ccf1e6 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33b457c4-8c41-4848-80ce-5b522d397e7d phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ac427fe0-797d-402e-97e1-e12bd787a008 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:16025d11-d602-4a74-8136-8851c933017a phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4456742c-d6a8-4415-81ae-9edff510bf07 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a91ce416-5d46-45cc-b461-7b4c60b33b69 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce088759-dbce-4eba-b305-d8ebc10bd048 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a88c35d0-1aad-460f-9011-2929d0259e29 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e24fc052-303b-41ff-b486-729c8adc1429 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:41ca0923-967f-4e3e-a598-8f5531a942f3 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b48c6574-1071-4e35-8164-5a4474c17a70 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:234c5d82-a2c5-496c-93c4-1e5d0b4035cf phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:8966c98f-9c5a-469b-8384-60419d8e1959 phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:78543b81-6e5f-4761-9d82-c63583a40c2c phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3f35b269-93f1-43b1-b1d3-936286498b41 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb08a32a-3c32-43aa-ac5b-acd98a3328fb phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1e9d0581-5e6e-4cf7-9775-1b443f181ebf phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:00a35d9d-b2ed-451a-a272-25e1628de0d1 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:df54a0e2-8de2-4af4-b4a2-6bc97b18d24b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:151dfa78-b260-4bf4-9872-48b3f0c38efd phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3add0e47-01d7-40b7-b046-ad93eefd2fd7 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4977f993-d427-4859-bf7b-f34d25540b8f phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b7356b3e-aab8-4a56-9680-90d3d5d10813 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:be1902d1-0517-4093-8f68-f71008a80c89 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:159024fa-2f83-4fa0-968b-d76a74d127d6 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c1fb9a32-c351-4702-82c8-583956e116fe phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:afaf2607-02b4-46e4-9790-64613283967a phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3a44f77d-9168-41c1-ae93-0647c50a1a8e phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e0c698b8-c919-44aa-a565-b737387855f9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ab68cd0d-ef63-4f53-8c1d-938beb158940 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:389ed438-0c9e-4264-8eff-74c21fdba009 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:cf934eac-f3bf-40cc-9fec-15352a8a5097 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adb3ae9b-9004-4ac2-bdd5-09ff074b7ef9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:039ab664-4d9c-4e74-a533-b39b1e873616 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:777b94e7-83f3-4a2b-9e14-9d52dbdcdc98 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c7ea333-ea61-4919-bac0-d0a54b6b34a3 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e252c8f-6399-44a6-9a0d-8bee3bad6b0b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0af1810f-004e-4a0c-b333-0d318a40fdc9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7ee2ed25-9bb8-41b8-9d80-5372b2c08ff8 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c356ce74-3e85-478c-bec8-fd16c67dae90 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c70d740-5627-4317-beda-ebbb4286c6d5 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9234c59f-143d-48a4-bc15-c630c5eb88ac phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9acafc51-9e19-417b-b7aa-d5c46e314980 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:434eb254-e17b-45fa-8697-993f1ee134f2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:27cc1421-223f-4892-b7ed-4fdfefebd5be phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:368e5212-f7a6-487d-b1ab-19ac4b1acaaf phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c5b0761-d58d-4261-9b41-97ae16f41d01 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d25b6b14-3fae-4300-b2f6-62927ba90ba3 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:234ce76a-5957-4e64-9e47-6b9e30663cc2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc17219c-9fea-4942-8463-605c3a45493b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:39e3003a-9cfd-49ba-a1e0-502b2a5d4808 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f471d0bd-3571-41c6-87e6-b4d10b2262b7 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:be994ab1-3428-47f2-b63d-e45be2055424 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:70f8ef3a-2f84-4c70-8292-1c2611de94ab phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61e0beb8-fc2f-478b-9427-5536a5a2a8de phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dd81c96d-5581-4df1-9d6d-ad9ec9ab71d8 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fba9a7da-3b18-4401-a1f2-9cfc9fc462ea phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c53e7c2-e31d-445f-ac72-89799bb5f03a phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc5819ec-3a7f-4fea-8aec-5e58900df3ae phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c552bb7e-19b9-49db-931b-cf160db2e648 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:98e5e223-23a8-4ca4-8d59-72fa4a4a8caf phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77a47156-c70c-45bb-a63f-d5175dc9aaba phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:54b620b3-d5f4-4563-86bc-dcb189e1b479 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e6d9bd03-04e7-4293-8dc3-393edfd93388 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:20dd3172-e546-487b-821c-125f43164266 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6ec4d92-b920-4514-9eef-e042d6fedd3c phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:88d89156-e2bc-4bb8-b0f7-0d56e9c1c7b2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cda89bf3-0d78-4b80-acba-28d988e419d0 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d4a8f62-ba64-495e-be05-ad56d43729e2 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:28bd58fd-dfca-4323-ac39-605a718129db phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4506164-88e4-4fd6-b40b-cee6e5737819 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:350af0fb-a0da-41d8-9560-443deb021d3c phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ecc7c06c-b2e1-4ac6-be85-e5230002aa26 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a277fe00-c89f-4074-9b26-4fa3fbff47da phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:49b9d9a0-3553-484d-b175-ff5cbfaa1b95 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7343b458-a85d-4543-92bf-ed6c77ff8346 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69f28556-489b-4ca7-9247-2def7fc5055d phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba29afda-b6d1-4d5c-a5c8-c470660671d6 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:598b5675-3de8-4b22-b852-0810e4680bc9 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7aba905e-2028-47c7-b571-dd33cc054617 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9575e1fc-3349-445f-aef0-e81d2fdfab70 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:10765c69-6adc-4b8f-9872-634a44691370 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:84ed23ad-101a-4ce9-bd64-db99f66a1221 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:16d2f502-2fcf-4c5d-b0bb-9eafe4b92800 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40e67657-eff6-43c8-a48f-9beaaca55b1b phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6a0837ae-1bb8-41c1-b3da-f5488b831dde phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c67310b6-955c-4c9f-ae35-a17d2df7e52d phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:21f6a5ca-997f-46fe-99d1-29c025d63aa4 phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:99f24a59-3842-4791-a1a5-641411164b80 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:37951597 uuid:1c539b6d-7e1e-42b1-b438-f354885bf4b2 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:93f7138e-bd5e-4ff8-8010-c8c4105e16d1 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9c2e46f7-9ca5-44a9-8b96-bc9da7a8220c phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e4df937f-80d8-42f7-b1a1-aa4d5814d067 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bdb51255-e672-4a28-b22e-b738fcbc4dc5 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:384640a1-1dcb-4b83-a861-314172664a71 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0529dace-a0af-4471-952d-f550adb4202a phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8ce3207-bea5-418b-ab90-6f00766460f9 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d4dca28c-22d0-45eb-91ce-aad5e20bfed5 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:35545f22-2364-4674-a8c7-797d67743468 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:28e35860-d883-4ac0-8a88-3fc6b0e29453 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6abcb01e-f304-4182-aaf4-a6899edc00da phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f8134c6c-2b74-4152-afcf-da3e6103b20b phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f039ef7-a0de-41ea-ac76-2df53aa55771 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db1fd35d-fd19-4964-8370-f240a51f393e phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0aa73fcd-f8d7-473b-9cea-0cb45fa79d78 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7349a47-0de0-4664-b5c8-fc5db008d821 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f8e2dac-51db-465b-aee8-6625ab18fa47 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3620ea26-3fad-473f-92ae-c4c87ad3f1bf phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b939bbe7-9c47-404a-b3ab-9a86ac056729 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40a00db1-4f32-484a-8218-abe41b17b1fe phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af95a2d9-80f7-4890-98bc-d5da210387aa phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7b807c56-7efc-4e4f-bdb8-4222ca512bdd phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8848911f-00fc-47fc-ae59-9f03ddf9780f phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47a00d42-7fd4-4563-98e7-d426c59f200f phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:27ba1b33-a184-4d6c-a414-4e23223e7850 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c67ed099-ea5a-4c94-bf4a-992b7a978435 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a66bdbb1-f46e-4f2f-8657-bc5983c311fa phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:59a8fb48-24bd-43e9-a56c-5c049f7248c5 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4541a4fb-3d09-480a-92ba-63878a07a094 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3791c393-fc52-409b-a01c-a622800ca182 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f598ed06-d1da-4abd-b116-18d3aef0720f phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf684a95-603f-4a7d-a570-98e0b57ddebd phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1304a641-60a5-4a62-80b4-16dfbb61cc46 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8167a66c-1f95-40cb-9e12-440a3cb9d004 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:530b16a3-2ab4-4040-9e82-30aa1aa4c4eb phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:00eb2658-49f9-4e3f-b24c-86169fc98b0b phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e7b4ebe-efe2-4c5b-84a5-c5c026b2ea8c phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3375443e-4abf-4482-afcc-6014ab7c0712 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9059e22e-ff19-4125-b96c-db4b5858d720 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e4f646cf-e0dc-4d59-a16d-a547809d923e phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0bb8917-2922-4b42-9f70-ac3572ba88e3 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1846630-3383-48fb-bd70-5317e45882c7 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cc9cf20e-f845-48e0-bcd8-557a79d175cb phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b9278ae-1255-4467-a48a-74970f001ab5 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3b1890a-2fbd-4a52-a75f-d1a6f4a9789b phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:432031b7-877b-4e71-bca9-8662edf09c00 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0c410e4-c68c-45b7-8b72-07d8c820aff6 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:380dbcd8-f876-40a7-b10d-bc5d0216ef48 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd17c793-5b05-4b03-bd7b-dbeee4afc8c8 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d543330f-631e-4a00-bbe4-7c966617d259 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17f5ae56-236a-4ba5-b959-a58758b44e40 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:17076e22-bd8e-4baf-bd23-caf9fedb0632 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd99c5f6-7642-43f0-82dd-1ef8e185d86c phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:216118e0-ce3b-4bcd-a403-b87b31b441ff phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e60e25a5-72d8-44c0-a3c2-1659d5e83ee5 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50460e79-540d-4af6-a1b0-f8691d5b6141 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:162eea10-9de6-4f24-bc16-5311564a3437 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1752fc1f-afc2-4eef-8099-85dccaa0376c phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6350a080-6fde-47d5-b5e2-30edcb420fb6 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3b95085f-9426-44e1-b10e-f724144a6672 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e873fe9-784f-4385-81d1-eaec495b968c phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d87d155-3cf8-4218-a51c-e90c8f1d6d67 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:d60cdee3-3708-4ed1-ae4b-875440a1b277 phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e616607b-5733-4c21-a398-cea778c2ab9b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3c7d5b75-152a-4410-8dd2-c03511749366 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:112bf5f8-f081-4e93-90bf-fbf3232ef68e phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:147de467-d11b-436d-9d36-311858c78338 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a126be89-0ee0-45a1-bdbf-4a5a172e45d0 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6abc6611-db42-4a46-b238-761a955ce505 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:581084d9-d30d-44c1-bc0e-b8c3ba349359 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7a47643f-de31-44f4-aa3a-0b4b2a3b411f phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c44f978a-eca0-4685-acee-f4b36b3d8656 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:32bf1aaa-b8c7-483a-aeac-22ecdcdf3dd7 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ff1a73aa-14d6-4cfc-8e61-17dd0ef1474a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8d82d6b7-142d-4544-ba3a-55ec08a03b9b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae09eac5-6d9e-45af-b8ab-2aeea00d0d0c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5620dbd1-54ab-4c29-ae00-ba80689e165f phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7689e9fb-c4ae-448c-acc4-33f3bfdf3764 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c00425d6-f7aa-4771-a063-a894b2904a60 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b98d5b59-7e24-46b4-9c32-89fa93fa4fe5 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d4048978-d859-4ba3-9986-08768061da60 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:99db1dc0-d085-4e48-8a66-7349c7ca1462 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:36095e01-4e21-4b97-ac90-0ee6b70ecc35 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e709dca-2cf0-4556-a508-699628e7a921 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bb9f3f7c-c850-403d-8b1d-46521b8ecf8b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8c35682-ea7f-497a-ba60-9bb7c2c4fd96 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6641b0e3-713f-4ce6-8692-b5d25f20ac05 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d12a1924-0792-4878-880e-c917cfcaa8c0 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b508f837-88a9-4ed1-acc6-9a3fa47df537 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07bc2798-cf32-4f78-8346-18e39274d082 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:29ca5f57-ad36-4090-b13f-9a3e7ceab42f phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a0873cd6-edd7-4a78-ae5f-13b23113ac9b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e450c090-e571-4b1e-910a-4864401b886a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:313f66ca-f05f-47e6-9f50-d6aa4e348ec4 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:635f4194-549a-4a67-a412-a0758c3c63b0 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:315a3849-3b2b-4253-9974-25d1a3e6d56c phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:929a1894-c926-494e-bdf2-352dda9a271f phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f269000d-f8ba-45e6-ad42-2b5fe3d5ad97 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2718a305-195b-4f79-91cf-ff29fdcb424f phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:507efdca-4557-484c-ae6b-507665863e77 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a897907-0b6d-4b6a-b493-a97f4927a205 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0397666-c88a-4045-8f01-381f80f6cc3b phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e805ef9-6c41-45ff-bbdc-477a823c2665 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f37e07d9-a019-40b6-9f9d-7231d2d5a053 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cef2fcae-57ff-41a7-a78f-aa31c5819538 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:50df4311-4f68-4454-9b6c-c7248018f602 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:02bc5baf-da2e-4f71-a550-be37e73cb468 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:473ac4aa-ba08-44b4-9257-0bf5bab4be21 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44e1a92e-d93c-4152-9bd2-b4a88100dc49 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:355430b6-38c5-4714-8b9b-de8aa0d8426a phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44de611c-f048-4be5-8481-5dbe24ca1e78 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adb92eb5-283c-42eb-8c39-2a5338d11937 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30050a96-6aac-4a3e-927b-9b3ed2ec9df1 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9fa31657-8a4b-46af-a31d-9b1c8c3423ea phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45447ec6-9eda-42af-8cfb-da1da37647f9 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:fa26e33b-beb7-42b3-b074-82f5f2ab41e0 phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:9814fe37-a0c9-41cf-b8ba-1711dfc564ea phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f793cb32-ef56-4ab8-9d70-a8f8aaa56e98 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f131ba2-7114-4333-b054-68e2fbb7e3a8 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f80bdf65-654f-4b89-90ad-7a69ca1c9662 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:746ee802-03df-4384-b721-b1bbfd7b7315 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb40850a-1b63-41ca-9d0c-75e2547b4cbe phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:766cdedc-9b54-4b01-8e5c-aaf57cb2bdb6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c11cb6aa-ef6b-40bc-b94b-466b3fa1ce6f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0f836000-1ef5-48e2-a3b1-aa31e0929db3 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:62629ab6-58c3-4443-a400-3ded8ba4db58 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e19400eb-6eb5-4deb-9238-9421035d4a79 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3c2d705e-399d-4316-a151-15cfe4145c87 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6e58441-c411-488b-a43e-8e283a1299ca phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:71cd2ea5-0f20-42e4-a755-dad5b347057f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:296708f7-63f2-4107-8382-c204e05af128 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1fc745ba-b816-4567-a948-044e7cb19b0e phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79e61c81-9ce2-4f43-9d49-56d002872431 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d9d78053-6d63-49d4-9dd4-ad770b9d36e3 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f7a9d128-030e-4191-8c29-38d88d47c9e6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:566b679f-dc7c-44a4-90f1-238a75de243f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:56d1e1b6-3f92-4525-9844-9c786578c67d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a8860ed-767c-4417-a495-795eba7c2ae5 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6af7b641-c45c-4b30-9495-67aa76d1a886 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:30eb34ba-d20e-44d0-a2fd-d3077cb4839f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:07da293c-9cf8-4da0-b6a2-6efb8b4de970 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47807c4b-7ff6-4c40-b636-415c8fee89a6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:726a5032-4cb8-4c5e-b8e7-87949d79a1c0 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ebc1dcd0-bb5a-49ea-b75b-65cf701c379a phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:649d3b1a-d017-4718-ad97-3579fb53169d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47f54cc7-5c87-4f60-b3b2-869c2ae733ed phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dd3a730e-8c26-4fa3-a65b-4125b96dcc56 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6693d74b-425c-4d8d-84d7-a09dfb444707 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af4e4374-a58f-41b8-9fdb-4df8931eceb1 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d9c27204-2ce0-41ce-8bf8-7ff0e587cd68 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5a2894c-3b91-44e0-9d73-903e0e761cc7 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6b494749-0cd7-4075-8c29-487652aed079 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dd6a4e6a-fe3c-400e-aa16-07199233be9c phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6204c39f-82cf-4ed5-a3fb-50ea22f312f8 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:af31c0f7-7c5f-4226-89f7-3d89f22d882d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4c31bf28-cda4-4515-9a43-4d66d050fbe3 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf59c731-92c5-46f9-8274-809a1c80bd8a phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba69836c-3304-4d23-97a7-944f5b0dddaa phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1e08a3b4-b93c-4234-a360-4f116a1aaf92 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f32dea11-b897-4b6f-84a0-f6ded15406f6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff801623-1668-4eee-9da1-2af27e99a6d4 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06d8a3b4-dd7a-4213-9392-8a3c034703ea phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b81c20d5-23f2-4acc-8d20-c5c6eeebb548 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad3ecb78-6b80-4907-a9a2-e130dce52c91 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d80c349-68a9-41a3-8f4d-8fb16d4cefd7 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bae39cb7-ab1e-42c6-a8b4-517838200b9b phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a9e5d72a-0b24-4faf-ae52-1330d2d81d1b phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ec2f94a1-7757-41fe-a7b6-1ce88b68d8ea phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6746c6e0-3802-44d1-ad2c-f2e5a2986e0c phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bde9a5ca-ef35-4ec9-b08f-2fd3e6611935 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:14278850-1be3-473e-8512-0eb5a6deb780 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b3696a01-bf6b-483a-bd30-7b017eec9775 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff337cb0-a6d1-423e-94c9-bf18fcdfba6a phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:becf5b2e-a3fc-4cea-8278-3a6f9ce9a9ed phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8f4afeed-d954-4cb1-8030-f6617a63136e phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:60392176-385c-4780-960b-16e8c0cee0ca phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:76354cbe-49b9-4b2b-ac72-f77920ed2dfb phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:738fd792-c4d7-4bb6-a5f9-1f7bf84d877f phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5fd2308a-8334-4581-a6d2-88d1108efb55 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:91ddf457-3592-4cfd-b455-ad237f8bd4bf phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc3f029a-e48e-455b-b4c1-6a1c7cd32122 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6057b585-bd1d-47ae-a236-333e18739861 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3dd0be10-630b-4277-bb22-adb8c6886306 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df0bb12c-3ea7-45c4-ad2b-00f6a2e3eb4c phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c40199c1-7bdd-4b93-8972-fb21da253f60 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc619f1c-63b9-45fb-8215-2d15e67749d6 phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:6e4155ac-22ac-4eb6-b223-88300d3c4b9d phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:2d8c50fc-da1a-4c04-8732-df09afaf5021 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d4d4a1e1-cbc8-47f1-9471-556068fe345b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0de7af99-ff9f-4560-b6c5-aeb334f3d462 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8e174da9-04c8-4e5d-9432-99770c68f406 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:60dc5e6e-5e97-4409-8ba8-b4306f930218 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a891ffe6-a0b6-49c3-8bcf-8138fb2ff4f6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:65ae9b96-0dc2-4ff7-9fe7-84f05b2ca675 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b56e9727-31c5-42ad-b0a0-16223166d8f3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7e35e32b-7470-4534-a82d-8d7ad4f8b8d6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c1cc26e-966c-40df-806d-ee8d68a0fbc4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:eb85571a-17de-49ae-b2b9-5d76e8334e49 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:85bf580f-fa56-4d52-8987-b3f056e50e8c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:efe83462-8a53-4cd8-91c9-6d44705a2af4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:27a77f3d-06df-436a-8068-70998f707acc phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d4bf47af-335c-4c01-a7ef-463f4294ecdf phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5890b94a-814e-4e75-8277-d75709d5355f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:54cfc994-4a5a-4633-9652-36874688b2d0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a49e5de9-4d86-40b6-a3b1-5f12c1946126 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6179fc27-a356-4c66-99a0-8e4478df8545 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa6166f3-fde3-4d07-85f1-8ede8e27ea8a phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:145884b0-8a2b-4dc2-8c78-bbfbab23ed2b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:03194c94-d7cf-4553-af51-8770363e2dd4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e38de7b-85a9-4cd0-9100-d8f0356345dd phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0921f963-b138-4ecb-8240-1e69426fcad6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69df8024-9ce8-4471-bd99-593b0f0209a3 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:763bcee4-070a-4290-a077-3ba1cea341a2 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d749b14-e2f8-4f2f-b671-3aa626beeb0f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7e9c52a-1fa4-437d-81f8-b2c0b88eee20 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3db675ec-1ca2-4a05-8ebe-bcc1255b56a5 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8cdfe3ff-6cc1-4ae0-889e-c905e20cea36 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:51b7f680-dfe7-4409-bf31-4b80ad90db68 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7e4d4fa2-f457-473f-b362-bcb0bbb83d7c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86052a02-b7e0-4334-ab86-85cd448f778b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a65627e7-0bf7-4962-b260-e7a5a66309c4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53efba50-e6b5-4266-b464-523335b170b4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:18dc0427-89e7-4d87-9226-f6e3721d129e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:97d63e74-c06c-4f03-bb40-86f090f044fd phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:78658dce-c1b7-49b3-b13f-339d3c2769dd phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6965b82a-ffc5-45c3-87d0-a0c8c0216beb phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:45f3cc52-cfc3-4101-b05b-dc338099502c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a732e0c7-a1d5-470b-81bd-bbe64e4868de phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b008965e-afed-4fba-941e-7015a1de77a1 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:281e82bc-4312-41db-86b1-55ea2e579e1f phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c88e5f3a-94c1-4b61-846d-5b20bfbfa4a4 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:63b3d4c0-9ed0-4d38-be77-a5a4cc144dfb phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fb430bf7-e280-47e6-8ba0-d7711e51f6be phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e365729-a2a5-45de-980a-3f9755a81fa1 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b1f5e647-b098-4cbd-9565-218b1f09314c phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e15ef5ea-4310-47e2-9b9b-7cd101118163 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:09087bf8-f369-4c93-9bb3-5d93a5fc7a6b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc1ae584-dcd7-42b2-b6f9-25a1fa91ff32 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:83cefe92-4d19-49fe-9ece-751f15d20fb8 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3cc5d31f-b898-4387-a233-43651adf5c06 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9413b3c6-77e5-493f-9df2-584b8da5b80b phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a4f287e-d84f-43f0-b9f6-4c456b407a16 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4950d51-0395-4b7a-813d-73afb38fd8aa phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33352e0b-f600-4f08-85f7-b9495e4d6387 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ebbcea0-8dc9-46bb-8695-cdee3b2c6ae0 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:44846044-d679-4945-935b-a38590e8909e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58214706-83cf-42c2-8223-cafc73eeb4f9 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79fd818f-1801-4938-afd7-b8d1ecfa3b39 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96a8a538-d57f-4db2-b12e-f293ca1eb2a5 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1262b646-85be-4f50-9cde-6694079cb2d7 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c4cf7b45-bbd6-4df2-b67e-0952bcfb3188 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4a1fc451-3eda-4453-8e22-e9250e99efc6 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cbac1f1f-98c3-4d30-bdd0-0e4761f4292e phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:596d18a6-6194-4747-a06a-50f3035d1254 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:119318d7-c593-472f-96e5-de0a7be64aba phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d2d7d215-8443-48d1-abad-974716bf0fd9 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c3494d20-efe8-43a5-be46-a22fd99f404d phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86316caf-5e3c-4a85-9e4e-bd5003f73e78 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:14d0cfb6-f99b-427e-a2b9-1684d78aa981 phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:48c1b257-4ca3-4b15-8cde-a3746bdd9613 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f7695ade-6460-4b17-87d0-99936a860dc8 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3781fbfb-d3ef-4e4a-ab85-e52780049f38 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:df182dd0-8abb-473d-ba70-186689362fc0 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a3be58bb-2d13-413e-a599-dd49ef040713 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:806781e6-762d-437f-9164-20dfc38eaae2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6f9380e8-016b-46bf-9a43-6c42a4419496 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:322522cd-cc05-4cb7-bd32-03177bf0cf3b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e0ddf826-fb5d-40c2-b250-55075d70bd91 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6263229-9997-436f-ab66-80c58718dbb6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c8e261d-b6af-4c85-aae8-0d9bbd509fde phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:821ca133-1dd8-4789-89df-3d4fdcb7d6b0 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6839846d-304d-4b1e-8c6c-c019b6fde7aa phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f862d868-b5d8-48c5-aebc-4b160256be00 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:42ccea5a-896e-4ac4-95e1-ca8766c3ec84 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ec57744b-fb24-49a6-a6f5-5c09588c1355 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d79763e8-e811-45de-959b-6b8734267282 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d526dc98-fbe9-465e-97a4-115aeaca7bba phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:86f13466-1552-4dfd-bc35-df1f3cb3b70a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:564badda-48ee-4823-8c16-f48130c33ff6 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:df8a4f1c-c54c-419b-b837-fac640748141 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25da6093-9441-4ee5-b55c-9cc55b7081bb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4d1702a3-019c-434c-a225-c5cb62c3ad74 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ff4ad5b9-9fc5-4beb-b005-f0b90232b4ff phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0ec7b140-3042-45ef-98df-50226a924bca phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:74a786c1-0bda-4655-ab91-fa528c665f25 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3029593f-1dde-45f7-8235-78edc06dea2d phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c03ed3cb-5ab2-4914-9712-909813d5952f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0df69f3c-d042-4caa-8b55-9cd4b246ace2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cdc91165-3e7e-4ca4-995b-41ee7c912875 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a524656a-21ee-4b35-a40b-0777c2442bb4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:35e8edfa-9303-463c-83fd-b96f03ba2f7d phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8e2e9b07-bc3a-4d01-ada2-c26e59096c88 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23d73b2b-2c2e-43fb-ad91-85b8732c28b2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bdae0c13-330a-4a88-96bc-bfaad9de552e phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9ff81aa4-fdbc-4d2f-adbb-6f3ae966dc9f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c8a894dd-d2fa-4fae-a84a-b378d8d6381c phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:58e656e5-3861-44e0-89b5-6fae36b882f8 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a62003cc-f944-451e-9d91-0b1caf10c03f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adbaf623-03ca-4a3b-9067-f8077f7f9122 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e57ef349-3341-4a3c-ba33-156e279c3844 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8af50e64-d486-4348-93e8-f5df5a3c431a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:460983d6-1dbc-444a-8a7d-50ae75f4ab1b phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c812313f-6dd0-4ecf-bee0-8e3ff3872441 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f622fe0-81f7-42ef-93ca-3bbb37ffc25c phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c6d1fa99-9244-4247-ab90-ac9df3b00904 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ded04d9e-a3db-47a9-b9ba-b6eff7ab8714 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:69d3f377-9fdc-40d2-94da-cf9f524763a9 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0df44a01-8f56-46a2-b034-04b38dff76a3 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:61260356-11a9-4500-9db4-ef11153288e2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:013a675e-4472-430b-8b8b-ec5d083103c4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:96e93003-f4c2-4a96-b109-b797dcac6633 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c491d52-974a-4192-a306-2f84298f1650 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ae7b1d3-05d9-4478-98e7-7d8c6a18b413 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:abb628fe-eb60-415f-b136-96d210a0a69a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:745e65b7-6217-4fb8-a6f3-d978d57b5980 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cb0de5d5-0c26-4a96-8d98-9e3bee91b0d0 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1667cc54-ad9d-4525-be2e-b061be426e9f phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05e089ac-b319-4814-b539-152728ac2c0a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e2c7073-4712-4a10-93a9-8c2cda656e28 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40b4bcfc-a092-4b65-a58d-ae4359d2c59a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72d14ef4-955b-41e0-8512-38d55f568798 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:387bc5c1-3a95-4d89-87fb-67f4f65a1c6a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b8af11f3-cc87-4894-be6f-ce717d8834cb phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d95b069f-ba3d-4da8-bfcd-f3adcf866be3 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bb501292-ec01-487e-9532-50021f002003 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:de62c621-1117-43af-924d-e1fbfc265fd4 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c97b54c-7e7f-4cc9-ad1c-c616a9f8b5ff phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15560156-9349-4d38-8cd1-a94364cd9732 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5000078-9f95-42b7-b700-ebfc0df3af47 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d6089c46-9158-49e5-a527-69476bccbb74 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e8ff800d-bb5c-4a9e-9c21-4cf5423d57f2 phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:7cd1c247-88c8-4f0d-8856-2b7769b2126a phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:a9cdd295-dd00-46e1-89bc-9e42f6605108 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37951597 uuid:dddfc4f0-f823-4528-a4be-ee7006e82671 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e32474de-8680-44fd-802b-21a2abb24bd2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:2719ba0d-2e82-471e-a2c7-5da282012b05 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:19892f24-e669-4ef7-a39b-cff6d37bca5e phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:37ff095f-ac20-4e27-a9b4-73b0a5832287 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a863c6b7-ed75-46d7-8e93-7cb71a375d00 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f44fa848-acef-430b-8d95-f09df8d472eb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8329e8f-d88e-40ce-a892-804f9e2ec108 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e1f7503-eab3-4658-87bf-9ca5f08e48e0 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a55a83ea-9d87-4415-8572-1408a32d2d95 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:aa08fd0d-b601-46ae-9d89-526c59e9cbd0 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:06159d6d-2049-4765-905b-9d4700d16c7a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d0aa0829-eba3-435f-a7e4-44e4f58c10bb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fbfb7c69-7352-4ebe-8175-afbb4cf67556 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4633fd81-741d-44c8-978e-a3a6c0b94b58 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:72fe956a-6657-4faf-8680-ce57be9f18a2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e523aa9a-05e7-4c5c-ac0e-824e2512c59f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f44c7a6e-072e-4bfc-a472-a5ad9c5e969d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f1cbe560-ad9c-403a-9a7a-43cec1ee24e7 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5a16524b-111b-4361-86cf-20df35e8b311 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dc718a53-63b0-497e-8a92-20c0349c80aa phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3029e90f-0d55-4250-ad63-b8c2b9b2df2b phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:dfb5ff48-4158-4167-8c2c-a168b9f2d304 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:252885df-7f89-41f5-9990-d889beeece45 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1024ecd0-55a4-40a9-857f-fe9e0163393f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:34ea4640-e9df-4bef-a091-eebf92c02fa7 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b42e9ad5-21d4-418d-941f-025f1aa40f2a phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b470d349-e7ee-499e-bbef-6434510f9b0b phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5d3d825-f97a-4908-b3ec-95c3e1bb0bbd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ae4e8a7-7ea3-41d1-ac93-4d7b6c65a8b9 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:863c9272-fc64-4c3d-9b35-82bb64cc57a8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40d6d924-8bc3-471c-941b-faf8880e122d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0629547c-6bc4-4be5-a84a-83723f70c5df phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:068d5c00-678f-4bf2-b534-dcfeda4cc12c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3f6b642f-fadb-41a5-b93b-984e5c9405e6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7835672-9e13-48ed-a6e7-e65b6bf4ef6d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd694c99-ec0b-4df5-a919-051c086cb542 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6c77fd9b-93d1-4c50-99bc-d51123655f4c phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b37fd85a-8cb3-4c71-b3d9-213f1f3fb9b4 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7f8e6f15-473f-47e6-8084-2557c241d2d8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b4862713-815b-436c-b0aa-5912b7e9d5bd phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:23cc400e-8d8a-498a-91c6-3b0922c61b24 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:77f12738-8b15-49f7-9515-e882e00c75c6 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:140e4713-0004-42f6-a1cb-756e029d8ef3 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0192b8b1-6b7b-4c75-b45c-eb93107bb669 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e065309c-06e6-4898-924c-a8756543906d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:632e68ea-38f6-4a7a-94e4-0585b3d741cb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0112e32a-4991-4615-ab9d-508819d2bec1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fc7cff62-45e5-4287-9f2c-16c87d0c03d8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b62d8cd-04c2-4364-a3aa-66a6bde98f67 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:500ac0cb-6678-47e6-a434-432bae686ceb phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3961194c-e488-489e-be3a-e87bd4e1fd5d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9f1312b8-113d-48d2-b110-213f3e283eef phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8c0916c1-b21d-4e9b-9800-0125b150c85f phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f70a7d9a-be45-4907-bb78-688d1bb8b413 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ce9f902e-f710-4647-b2a8-0e05dfd9cff8 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0f6d2cfb-cadb-4a9a-a3b1-e99bcc7012ce phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7d64759d-f69f-437b-a3c5-77150a3b4016 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3c2c1cab-242a-4830-ae44-385b4ca648b2 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4e9f372a-dc1c-494d-a5ee-98ccf6bac421 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f76d341a-5753-4764-824f-2905ccc6def1 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6ace44c8-6869-4483-b7f0-03428a74e060 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7bbfb3c5-4eb8-4cbe-877c-b9ad8e97a457 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6d73a88c-8152-431c-8d47-8ed56a59bec5 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d37294cf-165d-4098-b128-7ab160519e0d phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:387a54d3-9e60-4702-a83d-6147436747f9 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3794aab3-3b81-4e10-b9eb-0eea2799f2b0 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:017df984-d04b-4745-b190-21c636689909 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e23efc44-a3e7-430c-b8fc-b604b5da6a27 phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:e15d218d-487c-412d-93d0-0e56b3c0f4f3 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37951597 uuid:f38a6e0e-7808-44c8-be20-16dcdbbe2585 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3ca62e4e-2fdd-4b18-95ea-ec8e20ef9307 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:aa9c4c2d-14d5-468e-bd8c-230c27428739 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:82e8a34c-76b9-4495-b261-4068a0d2665e phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7379ff29-f619-47ee-9ba9-4518eff5bd70 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c0d1fad4-1fad-40b3-8527-cfc4a815f9ba phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:60d53428-c924-4fc0-ad84-11891a74e4ff phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:334e3341-befb-427f-832d-0c7646e77d5b phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9103795a-30a2-4c8f-b71c-02eb23405410 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:140d32f4-81ce-42a7-b7fd-25d3e6f38378 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0971c113-d175-4ba5-b201-452e570bee97 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9f857415-e041-4790-aacd-0ee5b4733fb4 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:e791427a-315b-45a7-b6a7-6234f85c8795 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7af9f1af-3d85-470f-911e-2e670ecc6da8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:c60be799-bd28-400d-870d-1cf55ab906fc phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:bcf9e64a-e39c-4029-93a6-2ae1a20dbbd8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3cd9f35b-7f67-42a9-8892-b1e505cfb5cd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8556c2da-a90b-43b2-aef0-86dddfa30ac5 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ffd3fffa-1514-4293-96a9-81f83982b6fb phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:d18644d0-5542-47e3-a74a-14c22d6605d0 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a2d0f187-9774-473b-bc38-c8c5b509b76f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:430b8b10-8af1-494f-b595-40181b919288 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7a4d827e-d377-4cf8-a2e6-aa9744cc4634 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:7e25878a-8776-41d3-9279-bc21fd86c82f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3025a1b4-e75a-4271-92ac-8b18880ee4e9 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:feedf97f-0523-4f2d-aa5f-8462819f53f0 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:57082bcc-e22a-4228-ba2d-2b00c607395e phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25f686b0-fad6-4628-bf85-d1626813dd1a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f72f5106-08ff-468e-b18d-b9eda0ac29e4 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:353bbd09-03c7-4052-b885-c8e9ff419aa3 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:15f1e8e8-2143-48ec-af0b-9bb3fd6d8cbd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db435073-a42a-4c6e-900e-20d86a56f959 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:932036ec-d8fa-47cd-8638-501e8521c6fd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2358f86c-9528-4294-bfa4-d55bf9d6fac5 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:33cc6b6c-310b-4e7d-98a8-818c862d78e6 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a658762a-0abf-48dc-b386-577a4c16bbd3 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9016424b-aa47-432a-8022-f0c24c46c31b phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f5ac605d-86b9-425e-a29a-bbd37d5e8bab phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ba80a442-7f48-49c3-a58d-544c64d315f6 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ed376b5e-344d-4744-9bad-e9d0e2e80a9a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8d80253e-146d-4a5d-a6b8-db3ba0026fe8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1ab923b0-b3fa-4eb4-9d99-c7c007b23c1a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89de0cdd-67bd-490a-99ca-25e45eb76650 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:adb05e1f-32ff-48c8-8c92-f8243faec9ee phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e9d2bdbd-50ec-4d35-a4dc-38d8ce0076f7 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7659ab8a-b45c-43d7-9aee-99d245f89179 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f38bd317-fe4a-44e1-bfe9-e286516dfe7a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:645b35f4-4414-4601-839d-053a876fa90f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b944f983-c991-4da6-9471-6626a87a3056 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:90ab8f37-bc99-4936-9a60-48cc970ade67 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a78d1e8-27ce-4fe6-87bc-9d75c98b578f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a43c7ee3-33a3-4ee3-a8a7-6f01ae0170bf phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d5010c8f-ae7e-426e-8cd9-faca56d700f7 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3fe6211c-e6dc-467c-8a1f-78356f68fb16 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:9e3de0ce-70dc-4677-8687-2de4abb1cc58 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:59e0217d-8bae-478c-9b7b-624a8bcf0174 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:40afa4df-2bab-4425-a149-f6fb682fe7d8 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:48900ee0-0c57-4780-a49c-891e4dc84203 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:53bd5977-ec61-4fe5-b19a-25cf8d307957 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f63b7bc-d053-4f76-884e-d3d3f5135a1c phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:220f565c-efe8-4e88-b702-e3ac32703050 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:01f8fe62-9d24-4843-8f5e-c594834df6fa phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a783af0f-3679-4a7f-84f4-92c933022942 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:fe2a747e-95c3-4a0f-8707-826baecaf44e phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d3d766ee-9346-499c-84a4-eabfbaaeea5b phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:24fd60a5-b467-4aa9-b18d-9cb5f1f7202d phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b0260100-1729-4e81-b183-c86a0fb3adbc phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5654af61-cd2a-4175-a79c-3fd4cb63cabd phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5e87939e-72b8-47b2-a14b-5747e9285762 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1b94a54d-5252-412e-8a35-e8430b0577fc phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:111709ca-5789-41ac-96af-a287e9161a02 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:db58c280-4965-4480-b896-27b3fe413b62 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:afe1393e-4782-4a68-bf10-685698d4433f phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ee2929fa-911c-4587-84b1-3da238c38c4a phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e7165976-984c-4d44-bbbc-0f0e9d8ccd31 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:1c3733ba-c879-465a-be73-3436871a1083 phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:12dc9d3d-9e2a-4ae3-954e-be70d86cb618 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:56c2146d-2f9c-4089-9e06-f5ea89e37eef phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:ccf5a75f-f090-4306-8188-c3b495a5db4b phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:11c36dd8-58df-4d89-9c82-6892fa579850 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:31f41c15-41d4-4913-8d59-6dab25520f48 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:a69c255c-f1f8-4fd7-9b3e-d72ceb2f403b phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:8ff66cd1-3280-4e84-be81-d9a06d95c89f phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:236cb510-9051-4400-8d1c-73d87d0ef0bf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f4a4a29a-7ebe-436d-86a3-c642b6e8173d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:0ebed28c-3ffe-4977-bf2d-af1275ccf536 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:de394285-5091-4f20-b0cc-f2c251880ea8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:43d13226-15ad-4df3-beb0-fa2404104b14 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:89422aaa-027c-4a28-8c95-83f69ec4a3ba phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a44bd8ba-90c2-4517-8c6d-09e8833b7d3e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:86018033-9f2b-44e6-848e-e9566327c2ab phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f3bf8b3d-9a68-49ce-b086-19c4de6b84b1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a3d7a933-712c-4190-9638-16036a7eadc2 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7a47f078-0fe0-41d3-a83c-82a7fe869a45 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3a63291a-937b-4762-b2fc-d5c31fdfa616 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0e443cf-5d85-4cde-989f-df52fe64b1a1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:473d07d5-6134-46b3-b6ab-67795e817db5 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c7379ea-32a5-4843-bdec-f6106ec0ea02 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:960a87fa-988a-4ef6-a26c-24192605fde8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:75bd3b8b-9af7-410f-b911-ff8da1c69bf8 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cf5a3a23-2419-4cef-9660-3c1e4d22995a phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c5faa089-5f71-4e38-ba4f-49876ef3c753 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a86e4c57-2200-44c9-976a-0fc0ed8301f5 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:83fe4a4b-fe73-42d9-93d0-bb1b09589611 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e1bcf5a9-823c-4798-9b45-be13cf884897 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:10fffcd8-073f-4fff-8d0d-5e9e5b471707 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:857c9959-be0f-4bd7-9617-56e754686b07 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2a5632cf-fd02-40dc-9c1b-cf32bfb36ba1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a8e7820f-c8f6-446c-aeeb-0ad2c2d58c94 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e87430ca-778e-4a23-b481-cbc449637777 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1108c0e1-513e-4112-b610-bae034081de1 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ab7c1437-13f7-442d-8dcc-4cb240cd5ecf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ad3342cb-0272-42cd-a841-f2b7b8d90e17 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ae33af5e-c6f1-4195-bcec-1192a607e4f6 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ba6dc77-d591-4012-a78d-6da470d388bf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:85cd19ab-17d4-4a55-9477-8f094ef6cb8d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8814b7bf-c7a1-430c-bec8-41663a625084 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4348bc25-3896-49fc-bf06-5eea359d1218 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6e36d154-67c4-42f3-bd54-bac395778d23 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:47669017-8f73-4467-a6ac-6407b5885633 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46aa0a4c-cf60-41d9-8788-9870da36fce0 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bd0c10dc-3731-4092-add1-8afcc8426698 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4eed3787-83ac-40ed-865c-e339ffdb9a5e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:82923b01-ab93-43d5-ae86-a2c09c2a138e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:55225604-81d9-4abb-a7fd-1a28b03be512 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a76ef7cb-fd6d-47df-844b-43bf0ba1c84e phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0ae6058c-8260-48a7-96cd-27656510c4fd phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f334fc27-6e3d-4bc8-b754-818cbd31a5b5 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8184d023-4ae8-4c60-bcaa-78195b65bc77 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1c4a4875-3d5f-4caa-8838-e21fb57ba803 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f19f26fc-8e45-4c5e-9317-4b0df0948398 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2239777d-9943-4f88-8538-a874bc34fc43 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:6f7385f3-32c6-4c86-b4c0-972f66ea12f9 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25f50f33-f162-42ac-a3c0-e532bef9d2bf phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:13c9ff1c-2b6c-42a8-8bd1-0f4dcd17ef69 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bf132743-6dfc-43d2-a49f-f93765568321 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:67313134-5818-4443-89d0-7307859a6eeb phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:68804d80-3f1e-4202-aea0-84066f2460d7 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5184c2fe-cdd3-42b5-92ff-ebb9f1391906 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:208240db-a869-49b0-b9ef-d5f492e7c170 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d7ed1dfa-2319-4507-ada5-b6bff54ebf72 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e0cac496-b9b7-41e7-bfde-7abcbdcb4a25 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0ff9d588-e430-43bb-aa04-5a0c7eea096a phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3221f5df-986b-4422-9811-0cf0a2af3796 phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:a285a5d2-f190-4ad2-a066-5185f704b86d phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:be35fee8-150e-4187-a620-c010e048df66 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:f6753b00-2181-429d-974b-124de7ed3956 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:23b765da-bdd2-4a14-9490-098bc0d9c745 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b98ee8fe-075d-48c9-b6c5-0ad2ea7a4917 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:5c64aeaf-9fd0-4761-b083-7f09ec676799 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:97c24f34-6a8d-4097-ac03-8b6645db57aa phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:4e0a853d-334d-4233-9dcf-5d993e9151f8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:9f317689-3049-41b3-84b8-462ba19730f2 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:acb546c7-69e7-4b3b-8d97-c6285e651c2a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:98d49f0d-0337-4bbb-8b2c-4ba4396fb78f phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:6789fb6d-153f-4bf6-b15d-84d754261093 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:b5167587-9d12-4a83-8ea9-d510422d2d5b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:409e0ff5-cb23-48f0-9743-c164871b5a12 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:36debebb-85c8-442a-91d8-b52c2089d643 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:3fa638b2-b03d-40e6-befe-fd1da9c022ec phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37951597 uuid:1679f3d8-28f1-464b-bce3-100f34d1cb7b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:7c95f2e2-20b6-40f2-a562-fa383ad40c98 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:daf2aedc-6933-4d7d-b08e-6b8df5a6b5c0 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:66d3108c-4af8-4842-bdc9-ad7ec00d2155 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cd111475-3d01-4bcc-90fe-1704b485a73a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d8594c60-634f-4ece-bf0f-d853f62837d3 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:2d81d300-43da-4772-be74-ec57d1db1830 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3e3aca6c-2beb-4f15-9384-a04452d3deb7 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:916118a0-5fcb-41b4-b221-5e047dc20314 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:501dda53-b094-465d-882f-007b3ed22a78 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d2d14255-0f8b-4ace-a1de-442d37e6fc8c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bc9c7736-664f-40f7-a207-e48a0a29966b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:cfea6e97-6835-4976-814e-53c26a02deec phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1d371b36-a02b-49ef-9523-8c89b8a6c7ae phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ee46c06-c227-42d0-8a3e-3aa0093f72bb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:62a7e0ce-d84f-4832-928e-7b41b4f928b8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:c38ec04a-0e66-48ca-a039-0b6afe8f0435 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e69c88de-501f-48b9-8405-fbdc83395304 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:688b5aaf-22db-45d3-a73a-5249a1f7690e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:25f51d84-211d-4deb-879a-6338246ac785 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:903fca15-3491-424c-baba-d613df20efb6 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:f0fd3856-93b7-4229-9ec9-dc7193cba9f1 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:b9354263-c7f7-4c14-b046-8c18a78976ec phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d586fb11-c433-4fad-b6ff-5ef0fd12cdcb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:ca547457-eed7-4f20-b424-01dc3d325563 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:3d39e54d-a38d-4cc8-8273-6d90759bf99e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e3e472b1-f82d-42bf-aae3-2faded3b625b phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a4de6686-921f-4717-92f5-6bb06e147402 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:31ec8fda-5581-4db3-a5e5-ebf7fdf01b2a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:a25b1fd7-3b5f-49fd-ae62-612884d8e626 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:d36bb663-7872-490a-a834-17053db4184c phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:260178df-b34a-433e-936e-fee79796b025 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1fea670f-b6a1-4ec4-8c82-4207530a0025 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4b24afd5-922a-4fd9-85fb-50acf675fa9e phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5ee3e042-d450-4aa0-8588-c133ded3053a phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0c9f9327-3821-4ba2-baf3-54fd9a88efeb phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:721cc76e-d56f-44cd-88aa-ead62dc044c0 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8b516a80-78ca-4baa-b5e0-ac86c8301d08 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:bbbd6906-5e2e-41cf-8380-9ff3f47be7be phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:332fe4ee-921a-4411-89b4-53e11332ceca phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:0e8e1bf8-e62f-4ff8-b8e9-752ad180b581 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:35cf6d9d-a030-4aa2-9077-1e79b47bb1f8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5f06022c-8b9c-472f-8f22-5b9b927ec726 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:46c9a363-867c-4f10-819b-90f736d0dc10 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:1a40a311-df7d-4e1b-a560-bf4daed50d88 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:8324ebbc-2abb-4886-ac7c-07a5d20ca6b8 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:e59c1421-1628-4515-bab2-e53e8a0acebf phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:00e6c57c-e49f-4e11-8bbe-403aba8ba598 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:062fc1cf-9166-4be4-9ff6-fd8644d7ba68 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:4ea01362-e240-4a6c-8ca1-ddded38ba488 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0030302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:5c7ec8a9-c374-4964-93e8-c7e85ac61493 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:79fb4f9c-2917-4e86-892f-ff0b44bbdbdf phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:05737f00-de93-410b-a7c0-f6aa018d6a25 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_phenotype HP:0007068 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37951597 uuid:072de7fc-9dca-43ac-b3f7-368891710f43 phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_disease OMIM:620785 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:398f34aa-b273-45cf-9fdc-4c5ffee52fed phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:has_gene HGNC:23339 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37951597 uuid:f47f0ff2-926b-46cf-a0db-c1b302bdd81c phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:e1a50ee2-d528-4bac-aa3c-697f40bc13e3 phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_phenotype HP:0006282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:bb8f820a-3669-444f-b9a4-a16155881eaf phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_disease OMIM:617297 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:9799d197-a5d4-4bae-a717-c06265d474f1 phenopacket.store:ACP4.PMID_28513613_family_2 biolink:has_gene HGNC:14376 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:224c15a5-156d-4b9c-b710-43922dffd857 phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:1ccc0cd4-7377-4be2-8688-bea10d3e1a24 phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_phenotype HP:0006282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28513613 uuid:c464e550-6957-4d1a-9d16-e3a8089db26f phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_disease OMIM:617297 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:68be3008-0ca9-4490-befd-523c85db031c phenopacket.store:ACP4.PMID_28513613_family_1 biolink:has_gene HGNC:14376 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28513613 uuid:4f87b4f9-7e05-46af-8a1f-1416f6034b5d phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:3bad8785-3a2a-48ff-8740-f87aaec875a2 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:3436cbbe-0ce3-4b2d-ad5b-1f6d0d48110a phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:2ba152b0-1107-4377-8456-9e74e8045267 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:3739df11-d7e1-4819-818b-19d7ec04f85b phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:ff224ddd-0702-4701-80b0-1563a98a712a phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:a571a8db-33ab-4b3d-9e04-8e0b48236e99 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30517146 uuid:85758951-69b6-410d-b38a-b1ddf632f348 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:a34342b2-83a1-44ce-bef9-d77fb0345b11 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:ae740af1-a2df-4482-96f6-7d965f818a5a phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:b9810b0f-bd96-4b87-b644-17584fb32fd5 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:be7e2567-87a1-466d-bb08-618eeecf38d2 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30517146 uuid:9b7f95e6-8db4-438f-a1e4-d00a34bf94a0 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_disease OMIM:161800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30517146 uuid:4ee66101-2578-45be-80f9-0c0ea7788904 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:has_gene HGNC:129 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30517146 uuid:e8ba8d67-1a90-47e7-8f39-31c3b0e57794 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ecb89ba3-539c-4c63-9f96-8c0b270cd3c7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d0748d2d-cd2e-413d-a963-59ab9e7c84a5 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:79f994ae-f644-48e2-9104-feb68846621d phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:fbaef892-0e68-47d8-a264-fcb3e088d3f1 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9445a4d6-f044-4f0d-ba74-c26783b8f3e7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:23724693-22b2-4e31-8d7d-7e48ea1f38e9 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c3839699-3c1e-4d7d-87da-e2a82424b404 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c9e8822e-793e-441f-9199-e6e8e61e5720 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bbe62555-3957-412b-9915-d29dd9cb0da7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:922e611e-437d-4038-bbf2-2b24ceb2d41c phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:615a739f-1448-4533-87a1-3541479731d7 phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:e4094c99-c546-4d30-bdf9-0bae5579d4a0 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:bdc58cfd-cc2d-4ae8-b646-1fcc6d8dd38b phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:92d461f0-02ea-46e5-bfc8-f215eb2d877f phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d5cb0753-4d06-4d31-80b7-171709bf70f7 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:94486f51-28e7-478a-86fb-f71741c3ce3a phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:5307cbe1-7429-404e-8a83-c99688ee0b06 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:1b16a0a7-3067-4878-968c-7419df7c564b phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:168d47fa-4c18-4c3d-91d8-832ec276adb3 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:06784be6-bf95-4681-84dc-c0dbd81d32d4 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bdd30107-65d0-4c38-9e45-1377eb04a426 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9ed25af3-4606-48b4-982a-7105d9b3021d phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:018b6b12-8c12-4b12-a748-3e6ed03464e6 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ec2ef12c-3404-4bf0-adcb-a4fb14700afb phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:d0e63584-ac65-41f1-a432-aa7a137beef4 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f8b926c6-643d-4a47-8830-a65a9fc48acd phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:3a017b67-5b70-45ad-83af-f9b77dfd3c24 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:09134f44-4415-4c12-aac3-2fa7122a8fe8 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:cf516350-d3c7-46e3-8648-752a20d2165a phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:85d6319f-85d6-4b62-8089-eb8c7610f32c phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f65b9fdd-d892-4830-a90b-d2d80c4a16a5 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:06bb1053-722c-45ab-b13c-314c83e4c5ca phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8c7c345c-7aba-43dd-b580-c38ea2af3275 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:65fef5d7-d616-4279-917e-efd206cca971 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:cfa729e4-6c8f-477c-911c-ceb81fc90f80 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:34b5b12f-ad7b-4450-b99b-60bf2a365bd0 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:4000170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:066a3a9f-fe9b-401f-ae95-7d8173869225 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a5f3dd15-b173-47c6-9ffc-29900d3b3a74 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:dbd36765-5a1e-4d34-8bb5-0adf843fe092 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0654363d-23e8-440e-8fdb-7c84c2f48460 phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:23e70fb9-f9dc-41ee-9522-808a4412927e phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b6fb3f4a-e66d-490f-b2d2-6b18493322bd phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:92763721-ce4a-4b68-8bc7-dd3debbc189f phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:71dfdeea-8163-44e7-bbe7-924599de508e phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:17e10f2a-6a99-4702-b65c-6257f376d6c0 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:f0856419-9572-4573-90fe-11395aefc552 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:3207867a-4597-4fbd-be88-136fb3f26e2a phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:c4503866-680f-450a-80e1-33caa8d6e381 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:6cad1823-6afc-47d4-994a-35344efc4da7 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8d47cbad-26ed-473a-8f3b-463438a121c5 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:2db58705-add0-4a28-85b9-a434307a8a7a phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d57431a5-35f3-4da8-aefd-7e49f07adf2e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:0ca7c912-e833-47e9-8855-7c061d72aebd phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:83b09b3d-e5fc-47b8-b99e-09e15162888b phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:e97a210f-a37c-4af6-bf84-f58d8c8fa07e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:5e81d953-8cc2-44ec-99e8-8363f353e60d phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:fd9feb00-66b7-454f-b01d-01b1582c5463 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a7e05f46-6d88-4897-a944-e34babc9b00b phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8237149d-b7d6-403d-89c4-7561285e8175 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:63f5b98f-edfe-4549-ab2c-0d2690c08ffe phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bca8b144-8c04-40ab-9c1e-0289d43f3078 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5c078459-36ea-4fe4-be2e-95d9c25654b5 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f338e30d-b3eb-4e9a-91da-ffdbb462c942 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:70631348-4dc8-4b18-b8e0-1223dcf3b644 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ed14d285-f7d4-49ab-9ca6-f4e9585ae6cb phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:863f39d9-63fe-4d7d-844b-67686653d8fb phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:58f80089-60f3-44d5-a692-f4ab72490ad6 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8c050c93-90cc-4536-b7d2-22e5a9f1241e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9eab14a5-16a4-44ac-9275-a859b4e919c8 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0958a50b-b7a6-4daa-87e0-ad2aff661a7e phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5eac33c1-49d3-42c4-bb1b-0f86ca175632 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0405195e-5efb-445c-a088-5930ab26b694 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:00d10744-11f1-4617-9e18-d1be356772aa phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:41eeac03-c030-49c0-9b49-4a4d787715d9 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:135b621f-5405-4db0-98b5-9f4a229d51e7 phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:70db0ce5-a722-4103-a12a-0bc8338a3a01 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:588d0834-df59-48cf-b6ce-86d3f1cce08b phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:82922f6f-63c8-41f5-b371-12a741adcad9 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:870a6e8f-ddb3-44e3-aaaa-219390504047 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d26be3a8-0240-4f08-a3d3-c2980f6775d7 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:b0224b3a-4f26-4aeb-b29b-fde0820df84b phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:f6a47ce8-8fe6-450c-a073-72ce9f9b7145 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5ab5b199-7847-4c83-b42d-a067e162b3fc phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:16aab620-6ab7-4bb2-a4d7-e2656c859328 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b24090fa-4173-4c3d-b22f-c0ff6c5cb9e5 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6f188b28-d1ad-4422-a3ab-a87425f64c63 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b43802e9-19f1-4900-8dcd-f5863871123d phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:537b86a1-458d-4918-88da-b19c62a69baa phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:790a1b7a-4e2c-4ee8-a262-05347d1ee9af phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8e1dea30-38bf-4e9d-bfe5-57f10cba7231 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a2d08e40-0cdb-4efe-98fc-733872cb51d2 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:2caee753-9987-48b2-9998-609c3603f2dd phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:860e8878-a6b3-4c7e-ba0e-2054c432466d phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ebbdda34-adac-49b1-b55a-c8185ef493ef phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:99437db8-1275-4e18-80db-f67e4ef6ca09 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:51c9f936-6bcc-4082-a33c-a9ab31a05c02 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:847555ed-baa6-4e37-873d-f0fcb5b9a792 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:befad965-37ef-4fa3-89dd-9a5b3a76aeb4 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6953ca24-8e45-4a3c-bc76-9f3c10190221 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:7ab587b2-98cc-4f0b-9bb2-6ace02a2a472 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ca77d59f-e0a7-451f-b662-904078bf1a16 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:10a37689-6fb8-490e-bfe4-d04b528d2031 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:73a0912c-2847-4bee-ba8e-593d3f5f73d9 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:65d092f1-9992-424f-a15a-49348633ac28 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:2211ccd5-b899-447f-8061-abbcef225053 phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:1970fa3e-214a-469e-adb7-67baac888a0b phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:ec6dde12-e3e3-423a-a071-f1ffe359988f phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:57260c8b-3697-4742-9c1b-0a5d0ab5644e phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:dfaf8594-c5e4-4b6d-8550-92dc0a434f9a phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:b077d70f-006d-4943-9506-25ab0282da6e phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:f672488d-035f-430e-a14a-6e0837f9a578 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:5d34fd40-f37e-4059-9feb-6c68c1288d5d phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:0b88e175-55fa-40d2-8993-d3c1990418d4 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:30d83cb4-30f6-4064-9d97-2f1b36832407 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:f0810000-e602-431a-b486-562bf2a0473c phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:9a000516-191c-4c22-9459-177159b11ce8 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30733661 uuid:7346238e-2723-4f7b-8d6b-053c7ba1ace6 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30733661 uuid:12395b80-d4d7-4b09-9b48-db6ad8799dc6 phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30733661 uuid:774b122b-cbcc-43d7-97fe-349eac3369be phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:25f0a7ce-233f-48e6-a6ff-d6787abee6f5 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ee694416-6196-4ce9-a87d-82b6db6d59c2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8ba2116e-00f0-44f0-8ab3-f5ab6cbc7c9d phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d452cb02-1d05-4a52-9a19-e5c05fec7817 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:015e2748-4329-4d35-9b82-919e6daf96c2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:800837d5-4568-4ffb-94ab-29ec67add979 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:56a773d0-5eb9-4582-bce7-25f778f7b3e9 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:82f6e21f-dc3a-41e1-854b-b5f85cdf7054 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:57899ee9-52a5-47b9-81c6-c2a70cb055d2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:2e2fabbb-0cea-4efc-89a3-adad1f5ad5e1 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:83b435e5-e062-4fc1-844f-69d6103028ef phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:d6035d80-f38c-4b66-9afa-6911b32c27a6 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:7e9763db-330d-4442-b86b-607076133a3e phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c198f591-b4b9-41e2-9a1f-dca4b8ae44f0 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f2a58f8e-16b1-4175-816e-3e79d8fb6f67 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:eba47b40-c205-4a95-909b-d3ca97c566ca phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:2442b82a-33fe-4b5d-b171-e89e907febde phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b64c3aa2-aa7a-41c6-aaf2-ea01dc9722a3 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8ae32c1d-4955-4eb9-8f45-522d151ce39c phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ab14e303-52f8-4b7e-a6e0-1dff16ed260f phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:0ac93cd3-8127-4f3a-aa9e-bcd99d247d53 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b8a67f21-8747-45a8-b937-370ee4d8aee8 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:2712e67b-c888-41af-bcda-6521fb1ae586 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:43b5a10f-8205-44aa-9966-16ee9759182e phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:f176fdc2-caba-4c07-90ee-4b113e028126 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5e0f6e45-a963-484e-b429-e99867b4e99f phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:34323bab-c714-4ea1-ad00-709d2d020603 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6bc8c4da-c046-4583-ade9-1eb88a5e9571 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:9f6ad8f2-b889-4944-b7ca-d49d48ca7536 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:66c3f722-ecf8-4e8f-9439-2d4e038b25e2 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:9ffc0550-8107-4881-8005-384d1acad361 phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:9c68d9c5-f80a-40b5-a522-12a9eca0961c phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d02065c9-d279-40bb-a243-8d1bd45bc8ea phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:64cee6f0-bba9-4c18-bff3-99ab9b16bd1b phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d9f53907-9dc3-40df-a860-36867d7c4d36 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:66235ae0-5cc2-4dd2-8228-748c51f3c732 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:22961ad5-a9d3-491f-8456-1db962e25153 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:43f7c962-2f2c-4a4d-9f70-7bd2b242a103 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ba753a86-cca9-4b75-ae55-476900b49189 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:95816b16-84fd-4e65-80a4-ce4c860008a9 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:3f80e919-b272-42bd-b362-ed3e7a8f5669 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:ecf46834-1703-4ebb-ac45-07a98fc2d9e1 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:f6f4f7c2-0a65-4a6a-af13-37c55b49ffb3 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:cc196dd0-967b-4f39-9ddf-26e238d835b9 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8c600a10-ba6f-4bab-80cb-cfcf63486c08 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:1d207781-897c-4f10-a718-3c7e838673c8 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c227f5d6-2eb5-4990-9d33-9ce5cbb3ee20 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:31ea3f8a-de54-4042-92cd-85df31fea658 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:3ca5a09d-631c-4fbd-b8ad-30dac1d4c810 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:75401aac-d1bf-4bfa-b67b-b6264009044b phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:e0a72fe7-2ee9-4045-85d4-452db50607c7 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:784eaeed-d80a-4274-aec4-3297c789ecad phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:92e07eca-826c-4706-8f40-62520e204125 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a12a006f-702c-40c4-8423-6793229b9933 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:67693065-80bb-4506-950e-632591ab8d90 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c3d0fde1-5832-4ba2-961f-041a4c56951b phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8eb0ef80-532e-46ba-baba-dc63eddf087e phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:d9c65800-6e6b-4d22-92e3-56c76e3241cb phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:34bde19d-18d6-4ed1-a8fb-27fb6f628b24 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:b0a609f9-e7d4-47b5-9f65-19db86ad1afa phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:00fa6549-1c74-400c-b0ea-514fad52da18 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8568d828-7ccf-4979-bb39-9aea28d9c931 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:7614ece2-a4a5-4e48-ac85-0e1c37f3cdb0 phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:1a13c0a4-02cf-412b-ae2d-91eac656ef46 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:85653bfb-bf3b-4f20-ae7b-58fbf365a4b3 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:26454490-fd24-4eae-ba2d-87c34869a765 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:b58b5457-b96c-4d3e-8819-d4f323d2161f phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:6f02448e-4a89-46e8-a06e-211855b5aeb1 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:c9a83b9d-e2de-4a2f-a284-135e49d1e025 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:b38b8a71-e2a9-4356-a4d4-895623ba587e phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d148baa6-2652-44c4-8e4e-cf49a6870149 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:8071a1ad-b113-41fe-bb1f-22bce0179eaa phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:7a04f411-d575-4342-aba9-096c3421cbd7 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:d6fc4a7f-b0c7-4f81-9ec3-c2f594eeec0b phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:bd972ca7-edd7-4957-a8a8-ab8f5b3e6f0c phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:25fc0f7a-68e1-4c8a-81b0-ba3c66726046 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:74a41699-62bd-4497-8646-9743b646d2b3 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30315159 uuid:7667dd98-c2be-4276-82ac-23550efd7da2 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:6958fa3f-40fa-4f28-9787-556b9a300e27 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:817737fa-7e03-484f-af63-02123fe2be4f phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:938000d5-7289-47e4-9911-be7711556746 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:4001e833-24fa-405a-9b76-221486e7bc66 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a1fe2451-ada8-4162-9d15-98396885668f phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:5f90f103-efcb-4d3f-9cf8-cf684697d554 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c3511422-bcf3-44f7-806e-17ccba5a0bae phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:838059e3-fac0-4273-8006-3583bed16a44 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:ef44bfbc-2bb8-4d6e-a827-50d863ee8ef0 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:1abbca7d-6767-4efb-9c14-0e75bc267e03 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:4000170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:395226f2-2330-449a-8c0e-713795948799 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:e87a6347-15ca-4fd0-918f-0cd8c90b55d2 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:bde5d154-bde7-45cc-84d9-72647e1848f9 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:a1e27909-ce00-49d2-95e4-90c5d661cfca phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8895fde9-3d4b-4342-980e-c7f62c8a123d phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:8f3f073d-be4d-464d-9f96-728de536b469 phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30315159 uuid:c12b1380-43c7-429d-b63f-6a3f08828c2c phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_disease OMIM:620475 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:f1d7c1b4-cedd-40b3-b8d5-509bb516fc5a phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:has_gene HGNC:132 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30315159 uuid:84644612-dfda-4481-99f1-aa03abb4ca90 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0011877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24069336 uuid:3f563dd2-6edf-4b49-80ce-8abd16e66e19 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0032438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24069336 uuid:84f214b3-2b52-4e07-94b4-281a7ded8955 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24069336 uuid:c5461170-6b55-4434-96c0-e15d1b4e7731 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24069336 uuid:6a2bb462-0c9f-4d14-a31f-c7cfdc1e73ba phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0030402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24069336 uuid:ea3b54b0-4c36-4831-888a-8300efd95e29 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_phenotype HP:0012143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24069336 uuid:359117a4-9ce6-4e69-99bb-494b8d32f3c3 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_disease OMIM:615193 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24069336 uuid:4fd4a083-f9a1-4e97-854f-a84a191c6410 phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:has_gene HGNC:163 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24069336 uuid:2ad623e8-fb55-475a-a218-8b926b63ff5d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:eaa267e0-f80b-4854-98d6-b7b938f5a89d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0011987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:20de9cec-118d-4b6f-8189-88f57743527d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:d032daf7-f5ea-4ec9-9c83-c1811461b5bf phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:b531af37-036f-4723-a1bf-44bc8c7eaf4c phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29482508 uuid:fdf2fe9f-9ec8-4005-ac6a-80ed24a4ee75 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482508 uuid:a160889a-025a-4b55-af05-f012f20a06d1 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482508 uuid:c49f1d65-72b9-4042-92d5-3ddb75041d79 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482508 uuid:4b81f565-6cd0-4467-9d3c-1e164b76241d phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_disease OMIM:135100 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:29482508 uuid:bab8a112-1733-4ffb-b5af-22aeec733684 phenopacket.store:ACVR1.PMID_29482508_current_case biolink:has_gene HGNC:171 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29482508 uuid:890371e5-ec23-4bdb-b9b5-a899e99e6944 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:1680289 uuid:8e9a0a84-9f6b-4789-b327-af1b30bdb6ea phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:1680289 uuid:2d41bb11-7982-4ae9-99a6-3a9d866a9301 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:1680289 uuid:598b6e4b-3839-4f0d-98f9-d31995d18225 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:1680289 uuid:0c2b90e1-e3f4-4580-ac1e-d350691cf3c2 phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:1680289 uuid:94fc502b-ea6c-4e9d-a567-85f4fe79fc7a phenopacket.store:ADA.PMID_1680289_patient biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1680289 uuid:8cb9aac5-8352-4eda-b494-41f7ba11866d phenopacket.store:ADA.PMID_1680289_patient biolink:has_disease OMIM:102700 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:1680289 uuid:0e0a2fb5-ff8a-4361-9a59-64c258158742 phenopacket.store:ADA.PMID_1680289_patient biolink:has_gene HGNC:186 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:1680289 uuid:5fb829f1-de30-4e9e-bc83-81962ef78e06 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:8267671b-9911-400e-8673-28ecac9852e7 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:2b4cd6c5-ff96-480a-a035-e4fa6d15ce30 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:54b3548e-cab0-4b64-af69-670bd30c3fcd phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:9c5b2d43-8338-4003-889f-ecaf78b31d61 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:ada91940-ae17-4943-8d18-9eda39250267 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:98619ead-d25c-4a1a-85db-ef82bcecf213 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:13768503-6563-4485-9890-edd894d1e56f phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:81c195cf-8b9c-4b4e-8af5-e0c1355648e4 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:0438b0f5-6c87-4aa9-867c-2d3c4e66de9d phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:d7a01e3e-28e6-4aea-9c40-01694222ce16 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_phenotype HP:0030273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28823388 uuid:2d895478-4375-4875-a70b-af58d6c66028 phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_disease OMIM:102700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28823388 uuid:2ad42297-fd95-48d2-956e-5cb477f17a1c phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:has_gene HGNC:186 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28823388 uuid:449ad1b7-34d1-481b-b846-1d9ef75b1129 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:0d384bc0-dd1f-4a9a-a841-2138a8a0ba60 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:ddcc9539-6ef8-453a-bfec-c29e9469291f phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:15839049-ed5e-47b5-964c-0def5839aa43 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28830446 uuid:794fa842-8b73-4382-8c3f-cd7007b081f8 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:28830446 uuid:533c7fe4-6b67-44ee-808d-4ce3d452a32d phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0005197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:28830446 uuid:c55a43b1-09d7-4ff5-8f7a-ac9238cf8388 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:2038c687-240f-4cdd-978c-0ea833f775c5 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0033833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:347d7db6-c568-4d4b-bf2d-03e59c8d07ce phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:c8bea527-c966-4268-ad1a-0af4b379c09c phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:72011bdd-0412-42dc-8071-45ee525fdb4f phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:a7e01c52-5759-436e-b786-bf171dcc6497 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0000623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:09e16ae0-e779-4d93-b539-a99d46bf9bdd phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0012246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28830446 uuid:5b1c74a6-227c-45e1-8810-fac4313d14eb phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:5402ad9a-0cbf-4219-b9a9-2736f942277c phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:3398ef3f-ce60-41cf-ab7e-d619a0bf59bf phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0011107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:9174e641-b990-4abd-99b5-54db3c7ec33e phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28830446 uuid:59f27906-70f5-497d-aa20-562e42913646 phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_disease OMIM:615688 biolink:CaseToDiseaseAssociation manual_agent observation P1Y10M infores:phenopacket-store PMID:28830446 uuid:aa040cbd-622f-46f4-a742-90c6645ab73d phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:has_gene HGNC:1839 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28830446 uuid:a250bffc-153d-4999-9193-7554a6268be9 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0010702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:fc4d966e-ce30-458d-87ab-56f30cf6f7b3 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0002140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:b1f8856e-c356-4152-bc5d-d5c38152818f phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0025528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:3848a37c-463a-4e58-bda0-981c62666220 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:585f92d0-4f03-41a4-b6a3-d6676e285d3f phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:4749cc6e-0075-461e-8b9b-0b2041d75d25 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0033833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:8d861e2d-cca1-40dd-a429-0feab0003667 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:0433d9db-e9ec-4880-b5f0-1b7ee906d5f7 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:bfc87982-80ff-4404-aa23-f87924ab0291 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0034056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:0da16916-fb70-415a-8c6e-634396e8d256 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0011107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:2da01080-012d-4ad6-bfa7-33bba135719e phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28830446 uuid:44101574-8628-4c98-99cc-342459c5fae1 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:28830446 uuid:651a4fea-6f29-4f8c-a356-be0e2bb959e9 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0005197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:28830446 uuid:3fefe550-dd9d-41fc-8eed-49d52715c902 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_phenotype HP:0033260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:28830446 uuid:94a9bdc9-8920-4874-8de5-a4233f7cd170 phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_disease OMIM:615688 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:28830446 uuid:fe8ac089-cfbe-4d40-9778-7e3d6e6df59b phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:has_gene HGNC:1839 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28830446 uuid:3d509e0d-8fd1-420c-a3b3-edaa05d1efa2 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:f19d93c4-340a-4a30-ba2b-9e985f359ee9 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:25469541 uuid:5c635de3-668b-4518-80d4-77f2ff755af8 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:25469541 uuid:07103d2b-4d9c-411d-b7de-26f5d124cc18 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:25469541 uuid:e8291110-e17e-4a56-8866-f4029e4a24d5 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:51b11079-58e4-4c1b-92a3-c120afff49fc phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:a992a300-ecef-42c7-8d68-da850db5831e phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:8db4a43a-4126-46a5-af75-8e3d23010295 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:f3f30349-a83d-49a2-82e6-e286785b2529 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25469541 uuid:15d6fea7-ebba-449f-8438-880e08146dd9 phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_disease OMIM:277600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25469541 uuid:17fe1656-0ca1-48f3-89c2-3d0e5bb5c53f phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:has_gene HGNC:13201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25469541 uuid:ff07cca8-4091-4c6a-aa29-f1f3140d06a6 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5a340556-14bc-4aa7-a96e-81b96d87bce4 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9b04872b-0bab-44a4-a208-3b858c6d8327 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a22a96df-29bb-4c0e-a3ec-3dac61d196da phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d40ef5d6-98a5-4485-902d-b2b406e5e9c6 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a3be05b5-6fc2-4418-a728-dc7e8419ffb9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:500256fb-f40c-4c0f-8691-7413989c73a9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:c2effed5-ea34-46ee-8f17-b3253505cebe phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d1af42b3-525e-4a62-9bf5-1e1ed270e0d9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:f807d3f6-d050-47eb-8d37-5e01e6eec3e8 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:eef23f00-3dfd-4ff4-9b2a-9494f9bc5b0b phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5be69bbf-dee1-44af-8b6c-ed3bd3195d73 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:77ae503e-50e3-48a4-8d1a-81ace54f5016 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:94283b9a-21d5-46b1-83cd-a5546b2113f2 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:49428e87-af98-4361-9514-8b1d211801e5 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:2ecb2dc6-4632-46dd-a2f8-e8e32b28c982 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:f501c1af-45f8-4db6-8a8c-de1164c902ef phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:e0f63347-30f8-4e96-812e-7599c31031fc phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:9a0e3dfe-1a80-456e-b1ae-e9ff622bc5a2 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:a2118ddb-f981-4613-9188-707768200835 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:70603570-ba2b-4bfa-bf21-0e6adf61c247 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:5a02489a-985c-48ba-8a00-2b2ea056de72 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:fd30e85a-c3f3-4ed0-a49c-ed7d1ec92d74 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:8c0cdc23-1fd8-411f-88f7-ccd52b573da0 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:fb8c126d-9949-45be-abac-b266855e07ac phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:eebe4557-2c7b-49aa-b61e-743e7f05c6bd phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:222699fa-9c4f-4870-8e36-e87a2a1a8fd5 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:3309f45c-e0d0-4dcc-9802-4c983164afab phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:89e50188-d97e-4fd6-b4e7-77493aab15f3 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:855d6636-a4be-445c-b3c7-0721ada97d84 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b67acc3d-ccdb-469b-a36b-d6284ff807d9 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9ed2f7a6-c432-4d43-a7bc-329cdf05669b phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5efd037b-2d05-4f9a-86af-078ee73458c2 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:09098db4-38a6-4fda-a909-33a338f034ef phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:19ee4210-2549-425e-9538-968ac4c31383 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:e0682b95-5cc8-4145-92e6-1e9173b3839f phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:0e678a95-da34-442b-9af1-702636323818 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:520d9cec-b100-447e-b378-d45a648128b5 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:8021a96f-e524-4657-a11b-3d2153e2c225 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d649fa84-da34-4cee-be8b-c072e9edf11a phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:befacaff-a88c-420e-850a-5d672dfa37a6 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:203d0cbb-ba0a-4e1f-ac56-2c5ebd7742eb phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9e863bb8-89c8-49ec-95e0-8890ab0aa48e phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:f79b00d1-ac6a-4841-b66f-b90177c3a86b phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:5770e157-dccc-4b6f-818d-84f60dcca53c phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:4dec88a2-3dba-43db-8404-51478f23fea5 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:65095c59-ac90-48e9-9f65-46c3dc009a73 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7b655ea4-ded4-40eb-8b74-858c4b0c60cc phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:ac82c59d-2540-476d-a5da-3efb1448e28f phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:221aad30-ce92-41e6-a5ec-52b8701a40f3 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:d1a8a172-ae4c-4c56-9008-c7c8a92ec963 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:8839cf55-9ca9-41ec-a218-d8d6ea645100 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:f4e9e52d-6541-41bc-a770-3f6014966473 phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:dd6c7b8a-91f1-4393-b8eb-819c1f60b054 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:ed812f51-88bb-491e-9b8b-04df80ba15ef phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:92abf854-6f76-4275-99c5-4610fb36a493 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:c1a95ae0-41e6-4edb-9bd1-d19d9e72a186 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:91e37bdf-f10a-466e-98fe-6de6d336f2dd phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:7f51d0d3-91a2-4928-9df4-2655f146f37b phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:cd91cb15-d7ea-45eb-9d95-5e0d11f83627 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:44ca4a95-e5c9-4f72-9168-ff90d8cc7d70 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:d684f5f2-2df3-456b-9b29-ce1bc3ad01ee phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a45dfcc3-9da6-4206-8b41-d3710a602eb7 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:dcbda677-561b-4546-8acc-aaa9a38aebf8 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:40eb2ec7-0a1e-47a8-aa12-6a6e6fa2c546 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:a3ced95b-9358-4444-b557-c55874ab408e phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:50bebc1c-6848-41d1-a119-4eeb4c1b8b45 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b589b717-8d52-49e8-babc-a765d6ac60a8 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:2b963fda-ffda-46b4-8d9d-7d5247d3acfc phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:d2ada83b-4fb2-45f0-a7c9-d5a22dde154e phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:de95a607-cc40-4481-9e86-5a361b7dfe0f phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7da37984-9b60-4ce4-88f6-2d5475013118 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b7ddae2a-22ac-46a7-90b0-05e0f0d872b8 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:615156ed-ea56-4858-a5a2-b4bbff2c4b98 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:31b26c28-a376-4c85-a559-a33fa0cfa372 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:67d5c917-8e40-483a-b5c8-a671d37f5c97 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:fd4a6992-05ac-4253-9292-dad9ffe3596e phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:72ba484b-9fe3-440a-a26e-45bfe77506c9 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b42b0604-d008-4569-b310-2d4206570b2d phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:45431e6b-d631-4eed-9466-e38c9b23b88f phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:d68029ff-477b-4557-985a-cc10c7b26e13 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:92ac67b2-ad0a-40f1-b52e-2683741ff0d9 phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:4273f165-315a-4cd0-bdf5-836352198890 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:fab83f8b-ec4c-45ab-abd5-175bf2cf65bb phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:885a1e02-0d6e-4d88-80e5-b98e757d85cc phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:4589442e-9475-410c-a4bd-a09099acfdfd phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:2c2c73d6-0d6c-4dfe-b6ef-b030b94e9ede phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:3e56b35d-a0c7-44f9-b903-c8a3861daef1 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:00ae4c5b-6eab-4b2e-9f78-c91b9025f843 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:6f3bd318-f285-482a-bd30-a48e788a3448 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:c0e85897-8170-4df3-b232-bc4db729939f phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:1182050b-e777-475e-b41f-57015213ca2f phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:61155343-69e6-4bdb-9561-70f3976398fe phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:ba95d58a-1945-4610-a373-0363722c8b39 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:014451d1-0dda-4548-aa6b-20da053b469f phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:53a9714c-38af-4acc-9a18-8f61197652dd phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:00d6f7f3-b0d7-47d7-b961-59f5b94f92f2 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:cb7abf65-bddc-4a2a-b370-34955b9add62 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:31035f3f-a7e0-4afd-91df-660c78331f96 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:e5312404-1ee7-4c8f-9d66-bc2f08a3d5c6 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:f28714ec-5fb6-41cc-bfed-093fcd183547 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b3ded29b-2454-4d53-a811-b47b7cebf4c2 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:0fc4722d-72b6-4f5a-972b-7b0c2e5ee0e3 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:30557c69-a476-4102-97a8-c938221cbab8 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:cbf56960-a53b-46b2-a934-9a7ca692331e phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:c09f84bf-45cd-4b67-9e34-7a30ad2ced54 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:74fb27ef-1cb6-46df-b7c0-808709fc9b96 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7c934161-9f9c-418b-8092-046b5b445346 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:024a29e0-50fc-4df8-98ce-a90fec5dc1e1 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:ef82f178-0809-441a-a4ac-c68f529aaf29 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:f77367dd-5b1b-4c1f-b56f-afc7bb7e94b7 phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:07e0d200-d9b0-40b9-8028-229eb4d6310e phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0005879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:74ef0a8b-b20c-4d0b-8488-7bd6cfeeb2c4 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:1245d805-8bea-45f2-9323-358ffcd1eb48 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:76c170eb-9654-4f95-a86a-1b4c1da40938 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0009884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:afcf90b1-8c16-4f89-ae68-c7822e6d32bc phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:e271a180-1f9c-4024-9cae-f2a69dbac1b7 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:bb679d57-aec2-41d9-9493-a5fcb886d89c phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b0e60e29-d6fe-4fec-9750-9c82226ee7bf phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:e51d26b4-abe7-4f66-aa5a-37183f9aedd5 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:9f74a345-195a-4920-a22f-3a54e9799a5f phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:fa3d4bbe-07ef-4e71-ac4b-b3d35315e82b phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0031006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b60d75c0-66db-4b6f-aa5d-6ad7ff867251 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:0b883e64-88da-477b-b5af-83c4fb434928 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:a44f7c53-fdd5-4417-b9a7-aba599b5c03d phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:3753d4fc-8226-44b6-ba20-cb22167c7b45 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:ddece916-a466-4ab2-acb4-78c44d9fd5e9 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:b13bdd0c-8c78-4f14-9ead-f85c08c07049 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:986000df-b2f0-4c7e-afd3-93013f4ed403 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35962790 uuid:08b5cedc-1c07-4ab7-986b-bb4f6f4144c3 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:e7074000-b843-4f66-9867-957544cb6553 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0006089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:a163fae4-0611-41f0-954d-17eec3c9ef01 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:46d9e6df-2d04-4842-97cc-ed598176ea00 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:b5927e13-9ce2-4f14-9689-46202c45bd5e phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0200160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:9ca6a077-c1f8-4c86-be1c-2beef9ef9de7 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:73bba686-4f4d-412a-8182-60fd24e5846d phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:7a1d1855-5237-470e-8d5a-9b52ada6cecb phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35962790 uuid:4e48faba-f8fb-46b8-a609-02536aed5a2a phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_disease OMIM:620545 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:afa36eab-3461-48f9-91e2-c85f8e341610 phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:has_gene HGNC:16305 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35962790 uuid:0f65faa5-90c2-4845-843d-01619ce73b7c phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27057656 uuid:54e7afde-b558-40c9-800d-5cdc7283122a phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27057656 uuid:1aab4366-21cb-4b82-9e33-1e5ae9ec6e3f phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0003066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:4f47012b-7caa-4e2d-bb8d-553c46ac3ad1 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:a21b1c25-361d-4c77-9408-c8333d69e999 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:b0bdd544-12e0-4704-ae58-07b8b63f6b23 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:773cdd70-68cf-4355-be71-53edb7fa1f8e phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:9082723e-8436-44f8-a2c8-dc6a34837ad7 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:03fdaf47-b984-40f2-be13-86f77f6e05d1 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:eaf6e97e-b5ea-48b3-a9a0-4f755f8f4f39 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:36e88e23-cf8b-4b4e-83b8-15134a9e968f phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:74d2ea30-23b4-4344-b06b-622b841380de phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:1e9b3fc3-53d4-495d-af13-64398fbf1fa5 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:8485a751-6c14-4c4b-90fd-a65f2c2f98ca phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:892f7d39-6ed7-4201-85c8-59937b98df61 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:30b7188f-7ccb-446f-b4b5-bab2c774d9fd phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27057656 uuid:8160d2e1-c4b7-4fc3-b0e5-926ec468651d phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_phenotype HP:0000240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27057656 uuid:4e936da1-756a-4340-9191-87a528624227 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_disease OMIM:231050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27057656 uuid:1c45e39e-e972-48ce-8b4c-f31dfeb883e1 phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:has_gene HGNC:14631 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27057656 uuid:6ee6c53b-ca85-4cd5-a8bb-da2def8ccb4d phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:0dce7c97-a64b-4c09-834f-5e11587587fd phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:1ac8335e-3463-4087-98b3-ff4f360a28e8 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:df9dcce5-2cf4-49c2-868b-59ba7d6bf7fe phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:7a22f756-efea-4a5b-b62a-da7d869beb0b phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a12ed263-1c72-43f6-94e1-0654da72fa46 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0006821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:aef0c199-c4c4-42d2-b2cc-416ecbdcdce4 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:685548c0-7979-44f0-9a24-a6f74d557bd0 phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:05981e70-bbe5-40ab-a74c-95d06a548bee phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:4f7c5471-d2fd-490d-8479-48cd595ffe5b phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:0dd4467d-4377-4dc2-afd0-fb5d89eb431a phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:e320fa32-681d-4c0e-b5be-4d28bdefbc95 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:ac8fbe88-1a27-4424-ac63-0f3103b9445c phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a9888d9c-8ee8-4128-b6ac-5106939b0bd8 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:b4cdf774-5143-4d25-bf99-8be42239fe1a phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:f34f8974-c6d6-4985-9ce8-63e9ec44c490 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:b99c9cbc-c340-4e91-beb1-7cc2f843c613 phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:84e03a4c-9812-42ff-9b3f-1955f71a1b9d phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:3a314576-6c03-427b-bef0-ac9e527af9e7 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:9534109c-7fa8-4187-8bd2-c285c68aeca2 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:762fca94-5633-4750-842c-bb883e02bece phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:4b23c049-db0b-440f-9b22-2ea768af182c phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:8a7ff298-904b-4ec0-9452-80c9bc1696db phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:24f3bfb6-77e7-43c8-b517-291ca78e1aa0 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:0f74f1ff-0d31-46e6-aba0-9b384d509e03 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:1d39ae6c-a523-4900-8f97-065c6c557dea phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:6dc257d0-135c-4fe3-bd14-e0d4af154da2 phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:389d6250-ff23-45a4-a614-ad39db59ff44 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:add12ec4-d25c-4700-859d-dcbeca6a2863 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:6b5142ca-c26b-4888-954b-c6ed2c5d1cfa phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:b80e2af6-6d6b-4a35-9650-73ae79198370 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a5524a53-4b47-45f9-a034-7f26bd9b3b34 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:45b5e622-0a79-4a6a-b95c-02e9377e9cf5 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:91961308-836a-4eb4-baf8-3123fc58be74 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:191866c7-9bd1-43a8-89a6-95424ab8e98e phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:bfebdbe2-7aa6-4679-bd64-b20a26d704cd phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:f0dcf670-c4cf-4eba-b86c-2cffea6f1aa3 phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:89a2338c-b6b0-4e7a-92cb-023b29d358eb phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:2e3b482a-0846-4b88-a70c-f2485776f016 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:d66e548f-b3eb-4e16-b454-55aa2e8ec216 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:88a53b75-0829-4394-ba1b-71b04a3c2c8a phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:af37d495-f4b7-4b39-b596-9556f8e6ce8f phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:26f20a66-6b3f-4c3b-a1ea-37d3eedfac26 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:76f90667-38e4-4afe-b69e-8531c0f7f67c phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:4b7b8342-f33b-43f3-895c-f1b4c8a0ee16 phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:6cbccf90-3bef-44bc-b055-6ca342ca619b phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:66e32ea5-a12b-4741-87be-6d9c10c388ba phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:5ab338af-adb6-4b7b-87a6-e4f531fd6045 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:027eefeb-bd9b-4ee8-af11-30cf6db836e2 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:d5022921-d4a7-4855-aa53-7c813727153d phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:42224169-98be-48cc-a56b-aa563d1e2959 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:865fbad5-9e0c-4c8d-8773-1b269016fa30 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a0ed6bf4-45ea-43f0-9726-004da1e927b0 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:e60886df-a217-4a2e-9706-9e12b6635d09 phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:ad487626-99a6-4c32-8935-ebcf24645b4b phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:12264d20-b605-4837-a619-9c9c5d8473be phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:a2fb4dc0-01e1-4e1e-91df-3848cc0efaa1 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:b4f5bb20-fef1-4052-9506-c99efa67d78d phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:a871015f-d80f-4d55-8730-b7918d032b97 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:98dc3851-2920-4e63-aaf8-06c024da5ee6 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:5fbe6df3-57d3-456b-a306-c9ca04a74263 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29707406 uuid:99232065-4723-4ae1-ad5c-849fa0ed5cc4 phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_disease OMIM:606854 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:07104728-7cfc-417d-881f-4fccc530024b phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:has_gene HGNC:4512 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29707406 uuid:bddcfae3-3be2-4393-af5b-0bd7f4ba21bf phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0025383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:27376152 uuid:d36c3d99-82cc-4b0d-9e64-e18ecff111ec phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:27376152 uuid:5e194db7-1562-4a2a-90e3-20ea0fc84f01 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:27376152 uuid:fae3bbdb-971e-4ad0-8a73-9c0fae6c19b2 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:27376152 uuid:9761fc76-83b3-412f-9f70-cd816d303c3e phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:31d45f68-6d30-4bdb-8958-a250707ca548 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:65ee4202-13d4-4d3b-8999-c83a53b0ffd7 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:ba5e04e2-bdb2-40d7-9cc7-bd476856171e phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:b25fffb6-e7ca-4c19-a60d-d44cc1efd892 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:6c665658-9df6-447c-9bc0-cad7f112158d phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:1fb46ed1-fc12-44d5-a91f-093fdeba705c phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:d6e7e82a-76b1-4473-8211-2f4e2f3a96ad phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_disease OMIM:620679 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27376152 uuid:4a00b58b-a7ca-4d24-96ef-8e5da6536dc8 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:has_gene HGNC:281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27376152 uuid:4ab2b500-1cf4-4956-85a3-849427bead37 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0025383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:27376152 uuid:e94726ff-aa3a-4b4b-8602-2c4d68cb8015 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:27376152 uuid:a128ef62-cf51-4150-87cc-9e6acacb3a7a phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:27376152 uuid:8e4f8ec1-785f-4132-9346-3dbc3d18e3c3 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:27376152 uuid:1323facc-0447-42dd-9256-408a3873d9e6 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:b5553f91-80f9-4cd7-b4cb-613b0452be93 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:4988513a-410a-49f6-8fce-c5cac0a65bc1 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:d4705f66-8d0d-4162-b381-a0f376662581 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:94ba2345-155b-4df7-bf28-114ff275c077 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:2512b6f7-8f42-45c8-8291-75a30c339751 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:c22da5e6-279b-4216-9c7d-a38e9838a918 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:66fdcae4-b198-4241-b40c-f8d4b6995d70 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:d7bdf99e-ec6f-47c9-9d5c-0609bc81a994 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_disease OMIM:620679 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27376152 uuid:1b4bedba-0c96-476d-918e-89391c3b70a0 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:has_gene HGNC:281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27376152 uuid:a727ad4d-6c48-4b1a-b8ae-5a5e51a7978d phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0025383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:27376152 uuid:fc99c45d-13a8-4410-b090-e6e0f590842d phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:27376152 uuid:97a13b1a-0503-4f0a-9392-e4108f528716 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:27376152 uuid:926545ae-69da-47a7-b96f-831529cb40d5 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:b1e07932-68b5-4863-8419-dffbe22fb606 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:fee8a807-708f-435d-aed5-426047f7aaf1 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:6b10ca50-a5dd-40cf-adae-ef70fc985f89 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27376152 uuid:37371916-3b10-41c8-8f16-68a9bb1237a2 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:f1435430-cc55-467f-a310-f2cc94c965b5 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:41bb036b-959a-4b6e-87ea-0e073f9de3d1 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:f742c232-628c-4afb-9fc9-233fe111d063 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:58026173-181b-4ba8-8b5a-4fb83e0adbd8 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27376152 uuid:9e904398-4a05-4e50-83b8-e901aed3cb1c phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_disease OMIM:620679 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27376152 uuid:d10a841c-09bc-498e-b959-2269561709a0 phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:has_gene HGNC:281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27376152 uuid:2f4e8156-23da-4a32-bb61-24a1ffa862f0 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:527d87d1-1625-466d-bda9-bd051d12361d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:818114db-65cd-4d5e-8aee-fdfb9d8bdfc2 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:dd839113-288b-43df-834e-2e4da64380a5 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:649908d6-6b8f-44fa-9381-2a93194df3cf phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:7a0b2016-80a6-4d63-ad01-5df4fc5a2c7b phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0025232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:eb71fe95-f705-40d1-895b-63b9f76f8b42 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4e33d63c-116f-45b9-8624-a6728cf98177 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0f63bbe9-628b-4d4a-8236-4a43f8ff356a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:570398db-03d8-48d3-b236-9776780541f0 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a7959782-c7c0-4ab7-be21-27539447924d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:be3c3e50-e377-4bb7-a212-817587575ac8 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:29947144-33fa-4cfd-a2db-548a392962e6 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0ef82833-352a-4054-b25f-6146205a4418 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ed432265-b861-4fa3-b3c6-a8f6e667ce74 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:d6ab4c14-af53-41a7-ac7d-e1ad4dcf54df phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b50057b4-024f-4fad-bdc4-12724b2c5320 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:742f88b6-2927-493c-9d8d-ac3e0b65025e phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:1fbf3df2-bd16-4b82-a6b0-b4640813c5fc phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b814c4ef-e8b1-4b7f-82da-321ffe4791fd phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:f21f123b-d921-4ad4-af9c-5b4c20a316fd phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:66ce1249-369b-4080-ace7-09ff2d1cfdef phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7c786cf9-65d8-4f4c-bedb-495639afc755 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:cab6d836-2f52-4845-ad09-7ed83dc0447a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:c7022198-581c-47d0-b998-051ded1b6e91 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:f35b144c-1055-48db-8f88-7eac44d69a96 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:a9e9f293-7295-4471-b244-29b0dfc39a9a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7e8ec854-00b6-4cc6-9f3a-0dfe37d45cba phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:27baec7f-d485-46d6-90c7-359a779088b2 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:cdd7aaaf-caca-4e47-8bb1-9375b13fbfbd phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:0f3c3df0-b18d-45f4-abec-5b8a83645090 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:8439fc6e-e80a-42be-8ea1-cde3c696d035 phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:414fd644-2f7c-4e6c-a312-f6a2c8052e5d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:e52e5dad-ad9f-4c81-8fe5-f712f44dd07d phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_phenotype HP:0010562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:528b1b8b-48b5-4a05-8120-e4d2e7de1b4e phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:b9b136c3-582d-472a-853e-5f99f4e58d3a phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:bfae80e9-97da-4fc3-aca3-9a1c6dc60cd8 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a8e65a00-1e36-4d13-afc4-72fa642a4f9a phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:97fbdb38-b354-4794-9978-b29b0bed630d phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:473be083-4fbe-4597-b216-7d4f16bf88cb phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e5ed9712-74e0-4832-b4d2-85dd1dddc4ef phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:609897d9-5b6c-4397-b4a2-a2fe4ac09c18 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:c0ae2c1b-d4ab-4841-8ee3-bfa45e15be4e phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:dae521be-2c0b-4438-9c03-837fc434acc7 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:f0eacf43-8b26-41c9-b0dc-1eff76611c93 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b5f04751-2e48-4c5a-9b05-6f20f5d07de9 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:2c7c888b-abbb-42a4-a47b-a8666f163a70 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:da3549af-2aef-4e7d-be8f-ccf54a88c2f5 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:b7541001-cbdd-4471-9ae0-8e2e7e55bf9d phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0617b60e-9e31-462c-b51e-bd84f7f80876 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:683d9bbd-f22a-40bf-b1ca-092348c86273 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:2078fd18-f454-41e4-b83a-8229c5965e7a phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:5cbc7b60-d2bf-4fc8-af23-e61bb3d60951 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:d94fa35f-e9ba-4725-a935-39450cd55b4c phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:3e32bd65-bafa-4e04-b142-1c016692fff7 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:3781ae2b-0621-492f-82b0-9fd13b13f4b5 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:21bcb2c2-bd60-4b11-8d9c-9bc6d93dfa60 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4a3b227a-b765-4c83-8c6c-bb8ab82a6fa3 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:0c11ad16-ffba-45ea-a5bd-14522461aacd phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4d59c3ac-a6d4-49a7-b67c-f7c382256c37 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:990d59ef-c71c-4c00-a52e-77052781180b phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0010562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:506058f8-829b-4567-911e-185f85ce0375 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:6c7a5498-f76a-414f-b239-69d55865c932 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:21225f14-f139-46d9-a9c5-d077ecca7cc8 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:3a159e0c-5498-452b-bd98-2762db0b0cb0 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0025232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7ac16c5a-3e5d-4790-86f4-2e04a4036525 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:8fed0a3e-2c92-4589-828f-028bae8cf8dc phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:bf5a7016-4388-4044-9c50-1b6816b66998 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:d61e936b-ca8c-4565-8123-88aaa6aea20a phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:c56179cc-846b-4214-8fac-e50f48bd8634 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:4f3834bc-c9e7-45f3-a63f-54b2dd1dd2d2 phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:44666ff3-93ca-4b81-912e-3e2bc843b11f phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:e167f1cf-b1b9-4c4d-884d-40c4d1da5246 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:7ff4f7cb-b859-43f4-9e09-bdad1e3874a3 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:4db31950-9cf0-4b3e-ab79-18697bb6cda6 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ccbae933-528a-4861-9323-41c6f140098b phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:67b48877-da41-4015-8eb0-fb6f551e1a26 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:13e999be-fe97-454e-89c8-89f91c5bb315 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a1be7447-bbf7-4f71-af41-b70e4d06061c phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0004602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a208d41e-b18d-4add-ab54-d1668b81ee52 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:8b10bfe0-7d79-4fe4-bd79-b99a2b258a5d phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a776ffc1-d925-4877-94ea-100262dadc5d phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0034273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:839f67e3-dd88-4285-b426-435410a0cef5 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e5543fb0-c406-4d38-9220-c075c09fbca0 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e19248da-5dce-4c5e-b427-e306e8a4cbd0 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:eecb73b9-376d-46c4-9227-75143ddf44d0 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e0bc3cf0-c449-4f22-b571-c870b36dc3fe phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:e3433b1c-2fb4-421b-a328-fbb925e97556 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:7cdfae35-7501-4417-89d1-e716c7170427 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:a7067e09-80e7-47f4-9eaf-8e6480b43c6c phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ca540276-982a-4a8e-80f9-09ab70f3f12b phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:201ac50b-c0c4-4f14-8a29-0dd0b62e57bc phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7ee2de0f-db74-45d1-a399-42797855faa8 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:70967552-7b68-4d9d-8583-e347bc106b57 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:b4163b53-64d1-46f0-979a-afe7bf657e84 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0025232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:732a78d2-962f-41cd-b2ae-b26c47cb01a0 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:ec977941-976e-46b3-81f1-6706a5e569f3 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7cb658bd-c646-4c50-8e17-c0f2841ee7f4 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:9990101d-6e2a-439b-a256-0c212618c3b7 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:baff7984-b763-45ab-ab3b-7541fe0b87e4 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:f859af79-14b2-46e6-b33f-05eea002e519 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:5f4783a8-176b-4e84-9e5f-a945092dc59a phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:38d7bf33-9d57-4475-bfe2-719efcd1cd2f phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:8a59f27f-2ea4-4c97-8e07-de0915e8f504 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:db20feba-11e3-404e-95fc-87d983d13817 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:b3292750-84e0-47c5-b6c4-b40a7aa03b5b phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:4424cce3-1dbc-454c-977b-ad4f07c2cea3 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0010562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:3f1881fa-d91e-4db0-9d59-4c2b1a90c8fb phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:cf849560-f6ac-4c42-9b87-a4506932370e phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:0cfeb928-9370-4827-b358-8b0bf4dbca93 phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:9d09087c-feb3-42f1-a8ca-7adf2d0f5eed phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:7cf0e3de-2e45-48e8-9c64-4afce3d51830 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:bf317830-f0ff-42f7-abca-943a28cd47cf phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:b841a75c-8333-47fc-83ac-e90b3c5051b9 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:30759870 uuid:bd6670a8-9714-4cb4-8dcc-e8737b8d01fb phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:ba95af72-0198-49ce-9dcf-2d7bc5978404 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:5fe620e0-7796-4e73-bf84-4e7b65569a40 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30759870 uuid:f67adfa9-99f2-4c7c-b15f-8357435c91e5 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30759870 uuid:74e1e12f-c72f-468b-8d71-fdd0cceb9349 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0031158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30759870 uuid:bb28d978-4a5c-49a8-8f33-7c9d9e445478 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:31e9099d-2cf8-4c40-b2a7-c2dac604b592 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:42e3a67e-d55d-4487-b373-ea6c6726e131 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:8b15f5f9-69b1-498c-8898-8c57ea68683a phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:34af47a8-d2c8-418a-be91-200140731604 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:a894b1e4-b90c-4888-94be-399bd9d26aab phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:1117cc17-7876-4052-b2a7-3c7b0f312647 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:48edb853-ca61-4db8-b06e-8db0f6182ae8 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:5ba6d553-7cb0-4c80-b3eb-e5dfb5e79680 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:0656d9a9-0d86-4483-a90f-a75cae7b2362 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:4b24a1f3-9689-4f39-b96a-8514e3e4ec06 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:5abd1169-f64f-4ec8-8a82-98ae07a13601 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:ad1e2998-3ea6-47e5-824b-c11cd97792ac phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0003419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:a6e13325-708d-43a0-a16c-492168fc4589 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:afdd6fc2-bec9-4742-9988-0f8487b6f129 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0004417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:fcfdec8c-e39b-4bd8-a7cb-c10b4bc30343 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_phenotype HP:0004419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30759870 uuid:1cb0b8c3-d0c9-433e-8536-ec604387cc5f phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30759870 uuid:5e88ad9f-9369-4db9-b069-8afd24b7aab1 phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30759870 uuid:3a3cc29e-ae4d-4e66-8761-38afa182e194 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:ba4269a4-a461-4666-a0de-56ebc7dfaf01 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:2dc74ad2-e2e5-422d-9bec-0d62d7b8941c phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:15b2fef2-0f91-4162-b419-14b4b7591af0 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:cb5012be-b6b1-4e64-bf5d-62158e267bfb phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:dbf55188-8b38-436d-8248-f268a1c1086b phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:457fb831-9d5b-465f-9fe4-ccc420c57c2b phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:de70ec92-566e-4a2d-a5c6-4d006a0cf030 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29606302 uuid:6ed8811a-8d1f-401f-abbd-20db31cd7501 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:6c642fd4-753f-4890-8907-67a6a31b91ef phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:2ed749e1-9e2a-44fd-ab6e-4a6fb3893275 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:fda7398f-8d4c-446a-a841-f9d005791da8 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:93d293db-b00f-470f-97eb-8ec97bd2e109 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0025232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:0e4258e2-5b42-4a39-a1e7-af799e38e428 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:9bce6793-e6b8-451b-a24a-6238fa8f0a09 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:16565b74-5a27-4935-a5c8-8c1d0c8f003d phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:62b7b486-5f3e-4079-a108-c8741ab57b32 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:7b4dac5a-7903-4e19-8e8a-f7f9d1e6326c phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29606302 uuid:ea3fe56a-e464-4816-badb-e9b7f94fcc4d phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_disease OMIM:618000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:e33e8aef-84fe-45a0-86fa-6ef3d8a52698 phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:has_gene HGNC:303 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29606302 uuid:a1d6ad46-1653-4bf6-99d1-fbefbc162ce0 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:24951643 uuid:2f815ed5-bdfb-4cab-8a29-ca814fc7acd2 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_phenotype HP:0034052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:24951643 uuid:5642a244-b234-4b68-80a8-23e477d01b1b phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_phenotype HP:6000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:24951643 uuid:c74408d7-3177-418c-a0d3-9d4cde79d4dd phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24951643 uuid:aa040c44-fba9-4137-a397-679fca383b62 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_phenotype HP:0030237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:24951643 uuid:62898a12-f4c2-4f11-ad39-0388be4f57d8 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24951643 uuid:9fe31bd8-f3ad-426a-bcc6-f37f38ae84df phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_disease OMIM:615120 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:24951643 uuid:73e5d28c-3319-4811-b128-c81e7f69a254 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:has_gene HGNC:329 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24951643 uuid:40bac589-9fce-4322-aced-1cbabd670d76 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:24951643 uuid:5e6ea2ff-2d86-4a03-b3e6-1dc1cab8197e phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24951643 uuid:2494322b-f92d-4c81-affb-a7d6ae69790b phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24951643 uuid:1ac010e7-5a3f-4080-a90b-18d5c0185e54 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_phenotype HP:0030237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:24951643 uuid:3143c544-a778-435b-aabc-60d1c3f06fe6 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:24951643 uuid:12837ab8-f5f4-4c1b-9a35-5035c2e78fda phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_disease OMIM:615120 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:24951643 uuid:d4899ed4-12d1-408e-9132-b323881ecf63 phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:has_gene HGNC:329 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24951643 uuid:a4035ca7-39cf-4f1f-8272-9c033223a32e phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24951643 uuid:ef672fb8-3dc5-419a-ad75-4cc00fd690f3 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_phenotype HP:0030237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24951643 uuid:2008cdf6-0615-42c3-ad8f-70c8b6b86678 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24951643 uuid:61ee23b9-7463-4b69-bfbb-986852857680 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_phenotype HP:0034052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:24951643 uuid:866822ec-6d87-4d22-aa47-5b4b4ed9fe6c phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_phenotype HP:6000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:24951643 uuid:59aedbb6-21c8-463e-a45d-0668d19d81c4 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:7f0d6df7-19b7-437c-b19f-7a800a40944d phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_disease OMIM:615120 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:24951643 uuid:04ea498e-7996-40f9-b760-638945f96bca phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:has_gene HGNC:329 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24951643 uuid:da11f55c-881e-4b31-ac67-fda121da6015 phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24951643 uuid:7d66f8e8-cc41-4683-b058-b03f6734dfbf phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:24951643 uuid:d6417d65-69e8-4694-94cc-cae1d092d20a phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_phenotype HP:0034052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:24951643 uuid:aa627322-9414-4a29-b72c-328d5186ae90 phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_phenotype HP:6000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:24951643 uuid:6e493c86-d904-470a-8c57-3d48b9cfe3c2 phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:dbf2c147-1633-40a2-bd9b-fa0318aaedd3 phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:aacf73f3-7d15-40cb-8e1c-99ae20ed7f78 phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_disease OMIM:615120 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:24951643 uuid:9010e1dd-a7f1-4bbe-b294-6ffed23a8925 phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:has_gene HGNC:329 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24951643 uuid:ed71f2de-866b-496c-bc7f-6ca8c592fd7a phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:24951643 uuid:a43821f1-10e2-445b-a009-fd4be93bc72b phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:24951643 uuid:532bbb7e-a64f-4a59-97d4-215e7fe575e7 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:24951643 uuid:a6ea3363-4002-476e-89df-b7d333dbcff7 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24951643 uuid:5cbc2388-4bf1-453e-b11f-99512192076e phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0030237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24951643 uuid:553e12b0-3cf1-4f1f-9aed-ee660bbf0222 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24951643 uuid:37375d9d-b93e-40aa-864f-6d47fb20ad8c phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:e2ea3426-fa18-4bdb-89c6-5da3b57f26dc phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:12c23e6b-28df-4eb3-b532-2d704d4b2d94 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:a279ebca-9dc9-424b-967d-c00ff7284c32 phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24951643 uuid:de9ebab6-8a69-4d4b-984b-0129b9dce5ca phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_disease OMIM:615120 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:24951643 uuid:023948ef-d1ff-4bb7-a0ce-8eb2a0fa76ed phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:has_gene HGNC:329 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24951643 uuid:e6d37e1d-a25d-46c0-8405-6eedf302cb21 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:42173b51-8046-45f5-9989-9e6fbf348f5f phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5afa9b0e-af6d-48b8-a203-bd6a7d08467e phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5a106921-8c8b-4ebd-a419-812c72547a5b phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f4f7f95d-eb0f-48de-a632-145ca62478ff phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:dfaf99b8-c3b5-4d4d-a87e-8d5e9220f167 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:2639f176-8918-4568-a73b-6a3ceee6b32e phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e8e9c396-0e87-4d8c-840a-ef34e7f548a9 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:88782c30-a872-4282-a400-6404eaffd706 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d98e96ba-54a8-4858-a25f-0f1d58461d04 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:0309b905-76aa-478b-84e1-a14ef849ab56 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1ff9976b-e7cd-44cf-93ca-34c3a7fdf998 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e9a21004-065b-4803-91b9-b794bf7bb442 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:717df26f-ac32-4f3d-b115-82f8b05e91b2 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:842b138c-0349-443f-837d-a8e889f1fb1e phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:b311ce65-37e3-4c79-9bc8-bcba656e5b87 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:82d5de7d-25f8-470b-89b4-fce575f8751a phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:430e6c83-2ca5-412c-9c6e-d6f02cc7e296 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:277296bd-66a5-42f0-97be-fd535ae9ed88 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:b0eff1f1-4a18-45c9-85c6-bba93b0ce2dc phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1b4481bb-2be3-47d0-8dfd-befd87cd5cf9 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:95b49746-b846-437d-8def-fb6659480ee9 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:7b734e59-62b7-477a-abff-a19414dc01a3 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f1f9861b-6a1e-4db9-aa8b-ad21f6657240 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:da41a274-2e05-472a-822b-ab22d6849f43 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:452795c8-8fa0-499c-b6bb-b2d0d9f27d3b phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1a6184c7-74c7-4247-94d7-95dec40e325b phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0ef61f7d-28c2-4ab9-aa08-ee01a76baef8 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:57a36d43-9c54-4b0b-b5c8-70383a70b51b phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8a54a361-42b2-4585-a07d-f0e0e944670b phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:81601082-305b-45e0-b6e8-6b35ea7f5556 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8d43a59d-39e8-4ecc-8655-108daad62462 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:938c390f-0a0d-41da-b499-443463b34a50 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1457e7f1-e440-4884-bde3-d12bf4eefd85 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6dbdc587-48b6-450b-af81-67c1641dc618 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:68e3d0e9-aeb5-4d39-98c3-2101efe3130d phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:5aeee0c6-09c4-4de6-abd8-34a9874c78f3 phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:b696c2eb-1af5-43e6-a6d4-fe3edd6c52b4 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:f7fb1a15-88b1-42a2-a1fb-25836d669492 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:a6a4a65d-8450-4db2-bf6f-c0b7292c3f8e phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:2b20a54c-c1fd-4805-99aa-8617c4a5763d phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4f94670d-71ee-4dbe-b710-83611fa149c0 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:08d77719-8d07-47c3-b348-7026eecbeef0 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d186678d-035d-4bc5-92f5-b161da944d8c phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:73ce372a-78f8-43e7-a74b-fb37df3d26a7 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:9de44bfd-adf3-4fd9-81b4-afe1454442c9 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:8956cf0b-d468-4068-a3af-ccc1768a0b5a phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b44ddc7a-750d-4954-9af8-d0c757dd749f phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:c8b606a7-f619-49b5-bf65-86374d079928 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:868b1449-0b03-4af9-81ab-20e110afd309 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:679e1f4a-a479-411a-b8e7-2c423d50c804 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b6f70346-09aa-45ab-af79-48c69a502e8d phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:38ca0402-4d14-4c1c-b132-faa0d2cad910 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:a660d785-8693-4e23-a808-4ef1047d69b8 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:32afb420-fade-455e-a7a3-010d85e680b8 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:781e9814-426f-4a51-aab8-fcdaf3fcc70b phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:716226a4-abf8-4495-961b-c8e4c29b1e1a phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:22c4ee74-f05b-4282-a120-e47601e032d9 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:95adcd47-b4e0-40f5-b405-2b7cdc597d39 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:e2af3eae-c048-4c0f-a51e-605ed04cf8fc phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:1b5ce7ab-2cbb-42f8-9db7-ee3b08105431 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:1785eb77-82a7-444d-bf3b-565247b09adf phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:341d22e2-9c4f-4493-b04c-875eda2cc07f phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:678347fe-00ff-4a50-b5cf-9c9917bd7a5f phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:67ad92f0-df5f-43ab-8d59-aa6ae1ed4259 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8b857cb6-9218-4991-803d-eba2c1a5c851 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2838ebf7-a3e8-4df5-8732-8391659b8e31 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:aff00bd3-2769-466b-a062-dfe0e8f9a911 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:da963dd2-dabe-4d5e-8f97-53aa94c465c5 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:19d281c3-1eea-4b13-8b12-305cec604045 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4e604603-65a6-4801-b34f-02321f37bb0d phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:bd756e5d-7139-4c2f-a090-ee5152ca46a5 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:eda5645c-2652-4ce5-bcbf-09795bac2218 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:5504aecb-9b46-4cee-8640-e436cceb9c91 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:43367999-a007-489f-9677-40a781aacf1e phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9ee82377-bf61-4279-a864-afddf5f836bc phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:c63f2bda-662e-46cd-81d0-3d7dedff13ec phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:3d630f4c-f9f0-44d1-bed1-2eef8e711348 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8879fad6-1797-4f27-a434-836e2912af5a phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:77856cf2-2c2f-4417-8797-dc0ea099a502 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:bbf1de12-241e-4ee8-8176-ae5e3b40fc85 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:68478b68-ab70-4f4e-af92-6698207012d9 phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:eb527cd3-e3e0-44df-8598-52557155ac11 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:30622101 uuid:59b09f63-8e61-43b7-a843-7997c3dc24e8 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:eab6f9ed-8f4b-4b57-8ef6-9fce8057ef25 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:051546c7-c670-4067-970d-e566ecabaad8 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:30622101 uuid:ac313cc1-bba4-4cb0-8f64-a42ce82cc5dc phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:d5362932-8779-4e94-93ce-a2e61ed8dd8a phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:57476431-2ffc-4a69-b91e-a0369d635911 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:42dacad1-168b-4398-8713-37e1cac7f600 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:020fd4e3-16d1-4429-83e1-99c0d27149c8 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:d5cf9fe0-934b-4ca0-8243-bc9f64b199ff phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:dea46a9d-6120-490d-92c2-d352c60d1760 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:81d9899e-2b99-4e1d-ab81-5e4175929265 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:81a57945-47ea-4a41-828f-531f8a7f77fd phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:fe70f2c3-3a04-4a2d-ac64-9c42198715ac phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:24c6c38b-cdb7-48b7-a518-08bfa7e49eb1 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:37780807-a341-46c3-ba47-a13fac381590 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:440b9a4e-891e-4961-88b9-06393ad689e5 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:13f2725c-aa9e-47bf-b26b-2570ced0664e phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622101 uuid:df075ba8-2d7c-49e1-a074-24c858cf132b phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:533d5a99-d890-476b-9764-53b37750d6ff phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:9149b9f2-5296-4a76-8c2f-14f9102f1afd phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:1990e86b-a479-4490-a74b-42e5a5bf3dce phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:ff75210e-947a-4be9-97a5-d3f9e359ffaa phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:316b4a07-cbd9-454d-b57d-58771c43bbf6 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:362cdd61-9b13-443d-884a-b47a6382ceb3 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:6e53254f-5ee3-414d-b616-16a7c6160aa3 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:400c562a-94fa-4e0e-8cbe-796c3ed3602b phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622101 uuid:f03da86a-4459-4e16-9a39-a16c3a34b101 phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30622101 uuid:c3d40e77-538e-44df-8f52-7a154cd1e40b phenopacket.store:AHDC1.PMID_30622101_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30622101 uuid:2012ded9-9eca-4765-a70a-1413783d4cdd phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:34229113 uuid:1c8eb9b8-181e-4bda-9b07-f9d4426b4f56 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4d2dcc3b-ed37-4727-ba50-f20a57a0e815 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:e0cb4392-c666-4e95-9276-419990f4cb23 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:00311214-7234-44cb-948b-81226c5bee36 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:991ed401-efe6-4425-8551-ce84d080f15c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3550efcf-5c8d-4520-8b0b-2336808d7288 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:2ccf3aaa-4d78-4acf-a1be-4c4ce6b68eb9 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:2f8455ac-c000-4d1a-a798-c44ccf05ae1c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:9c3e96ac-b062-4cac-b20f-9097f806d592 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d8ef6fc6-d763-4ddf-a0e1-b35a51e46e5a phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:163a6480-e272-4db9-8c57-0cb21d9c52bc phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3fe0135a-2ca6-4355-8da3-8b6e923253f8 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:fdfcc49a-a8e5-4640-bc20-e116110ec2d4 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:83a68669-2d34-4c4d-aeba-f46576126a5c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:c0a44e4e-2673-48af-ab0a-4fdbc4d7c975 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9c5eeb08-affe-4631-859b-c318327698a7 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:33a4ace1-8f24-4e54-997a-2b0449dcba2e phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9fa3a6d8-f42e-4f2e-9fe6-eaa7f0cbc6d4 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:de0f01f0-48b2-42a1-9ed7-e0faf1530a9c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8bf84d10-718f-4505-afc0-9d7ef87a298f phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8cf84476-8f60-47e2-837a-f1e7cbeaf9bd phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2e4d51da-b46a-4be1-868a-cc0843cfae4b phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:adbe80eb-36a3-4e0e-97d3-141f31f70b04 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:fee67dad-8299-44bb-b8ed-a6260777d0d3 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2712b10a-2c9d-43a6-8da2-9f1c92d924bc phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:46bcd2af-eebe-4bb4-93eb-d5e894723fa9 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:3b995d13-5a32-458a-a42d-3fdf4c7dff4d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d022614b-5edc-4da1-be8d-03cfe3d1e8ff phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2a03ba7d-bb2b-4258-8c58-1feb21ebaa1c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:64a738b3-9399-40c0-8fb6-11e1d2b0e076 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:920a8a85-20c7-4b14-b984-5cdb9cb47365 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:03f0fc71-603b-4f9c-8577-bda68446002e phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:b68587a1-61f2-4ee6-8648-eebbf5a1ef2d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:1b5a4225-c6cd-4f35-a2cc-302dc4dc58c8 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:3764e630-aac6-47b0-8813-317deea54f7d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4b4a9b07-ab22-40f2-857c-5ba708ffb5da phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:70ff8557-4ea8-467d-884f-3def91f6c7cd phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:286917b6-0eb0-440c-93c1-8d55cd4baa03 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:988c7b9c-c241-488d-8e8e-e5c943d47fb3 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:69249cff-329e-4d1f-8432-0b2d48ba9599 phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:984a9488-9a30-452e-bd33-8f13ec82358b phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:dd7ef3c0-7a9d-46c6-b97e-a6d340bc0d3c phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:53dfd686-2c71-4b71-bdde-2ff067c30b6d phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:aed22db7-b102-4383-90e4-378e3c9a8055 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d78c09a9-b396-4afa-9ee5-caba9caaa9cf phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7b977fd5-0369-49fe-8ae2-6b395ddfb051 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ffbae3c0-dd3a-4519-ba8a-ee749d653f13 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:3e58166d-1868-4586-abce-ceafb9267fca phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:27c83351-6113-4435-9ede-b18b991b331f phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:84dff57e-e989-4b1c-896c-a38e3ce9a823 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:df66d249-8b57-4ff0-9b6b-8682b9d78aeb phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d8b888ce-1f9b-4c7e-8b09-43c3f30a5b58 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ed9f7f01-58f8-42e7-85e9-8d67ea79bac5 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e79df470-5929-4090-8381-25f82fe4c06f phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:35bc1bd1-fa3b-4c1a-9516-36f038b0a15a phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:20640fb4-0ea5-4c13-9a94-27d05d26fded phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:9db19ed5-0d3b-4e16-8262-f38fc287d229 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:65014524-4895-48f3-aa99-fdc642d9fd20 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:7a132330-5af5-4962-a697-17a5ecff2f72 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5d99295b-e47e-4057-8c29-cf5a0501b903 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2e8ad6e9-2e87-4e53-8102-2d1364622fa3 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1f759193-2018-4ce5-ae46-5c0123daa955 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3d143628-17a0-4301-8a01-272ec93921b7 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:13e4aa19-d82c-463e-b93e-b84251c3fac0 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:20e4ef91-770f-4f48-b3bf-8783e707e78b phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8b946729-769a-49cd-a633-24f6b59a6410 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2cf122f2-8bb6-4311-9712-15d2171bb037 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ac416409-4fc8-4828-aefc-8086d3c583b4 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2e80b869-9eaa-4f4c-ac14-3c09f5743218 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e02ce1f3-381c-496f-b09e-ac132a0b3de1 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0c22663c-035c-4c0b-a206-f4beb2221f09 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9fa3bc18-992c-4ca5-9707-16f95e185c4c phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d60df84a-a1b1-4090-8f27-b0f115dcb6bb phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:cdc432c2-77e2-4ae8-a79f-24df0fb60831 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e8d9d50a-8b31-44c4-8555-d9a716946ffb phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8ac7d00a-3a63-4082-8c4b-24fc6452b6f9 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:ed41dd09-d995-41ef-9b1d-ec9b0b3587b4 phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:6bc2b412-6607-4813-a4ef-f5f426632caf phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:43a75a02-4cab-4bdf-98a9-d3a19431c4fb phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24791903 uuid:bd6aed23-fa0b-4a26-ad08-2ded97b6c099 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:bbdfc47b-1243-4838-bb00-f6d5a22062fe phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6f3f07ff-1743-4f42-ae43-914f42c9366a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:63acd413-e99b-4245-bf5e-00881f9ed553 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:daedd82d-3222-4154-b1f0-dbac7e128594 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:d8cfd3b2-fcf9-4481-8b8e-d8d56aa1f55d phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:deb5f35e-c0c8-49e8-a48e-b983c9d5697a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:fe5ea9f4-60ed-4e65-ba91-4aaef66f198b phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:59e50dbb-3106-43bc-be5f-ff6311e0a292 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a14c6e62-a0a7-44fe-9201-727a0c66f07d phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:28aa0dc3-7a92-49dc-9d97-614f1c75da6a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:ef12887b-21fa-408a-9cd4-1239e8682b8a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:5459235b-48d9-4dd3-89f6-71c31c54e1fe phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b588f510-20bd-4092-be5a-84f19748668b phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:ef327398-eb3c-4c73-905d-273511e725f6 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:cdcbc885-cbd5-4a45-bc1b-9caf364faaec phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:af3de2b0-a38d-445f-b865-f1d4b13d56d6 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3a1bd25b-e34e-424c-aa8a-5230d1bd0a3a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0007269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e0fa28f9-446e-4803-9393-59d90989719a phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:fd7a7cab-6aa6-41d4-a216-124a39300296 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b7396961-401a-47d5-b267-58dcdcbb38a0 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:9fe89b67-1b15-41b7-a6f8-8a01c5c7e3f8 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e93a99b2-2a2e-4bc1-9c9a-16f423682646 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3fceeef6-18dc-4ce8-8eb6-2650ba1ccc8c phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:1d4c0db4-75d7-497d-9471-ba9d20062fb6 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:43d0a111-f8b8-4996-aab1-ecccb7a0dec4 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:eb0c641a-1768-4280-8b7e-4f41d946e7f3 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3e4cb086-bbba-4412-97c2-09bcf2a78e35 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:aff4f50e-5b63-4b41-87ca-6db6fca3e886 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:60de479b-983c-479b-88de-10b3621b29a0 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:38dead9a-9aee-493f-b9f5-6d1c35752de8 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:fa7e4edd-478a-4960-ac75-921171d10be5 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:0224b0ea-35d8-408a-955d-7fa74cb4a644 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:e1f65635-7ce7-47e3-be9a-d15afc2d37fe phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ccf9824d-2a1a-4b33-865d-0e460708d634 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:3588d391-abe5-4ebd-9989-51f326c30506 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f8439db4-d37e-405f-af03-461dbab42e58 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:3e69febe-3c19-44c4-b28d-ed6c72c979e5 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a2858926-ffd5-452d-9b33-b4a927f8ab52 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f3650719-f3f1-4a89-8884-b74edb0e69d5 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:9a4ad981-1655-4121-8a6c-95c04d2afd74 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f3d584c9-419f-49c2-90d1-3600e9b4e988 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:112195e7-cb78-4137-b6a9-f6392e64d2db phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:74df98e4-fd03-4715-8674-6b4bc3f56e09 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:3755d76a-b6ce-407d-b6e1-6204b5add721 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ddd5ac85-0b72-4bc7-9573-5f9bcdf99ff3 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:7fbad522-6441-44ba-a785-230d97042f74 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:30afe4d2-41d2-49ff-9cdd-1a579f115a3c phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:89f6e687-787d-4379-91f8-29ad8fdca97d phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2982ab52-f8be-4063-93ce-cc0cecc468f8 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:5728c758-6c8d-4609-b99d-ee328c0afb85 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:27ac25d9-be00-437a-abe1-d291e9ccaf66 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:54e9cf7d-8ff7-4364-8810-3ef798b74f17 phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:a746dbc9-d3c2-4e0d-b97a-1d17207b6f32 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:32256298 uuid:2262f126-c630-49b2-b9df-e736dbd4cfb1 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:3a53f0fe-ad14-4ba1-a4a2-00699603a18d phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:3ff7d0d3-700b-480d-8bc6-44df94edea2a phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:d6b590d6-f2a4-4480-8877-c51f26cc3262 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:9623f513-a39c-4212-a52b-0c12491318e9 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:da1462d6-79a8-40bc-952b-44eb2c79ea18 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:1efb03a5-3dc5-4abf-92b5-f4942929bd5c phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:2405e16e-0d44-416b-9899-fcb8c0480dca phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:03a35dcf-3508-417a-ab31-d0cca677398f phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:16c27299-2251-4b27-82dc-23bbece122fa phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:546ef1bc-6c2c-46e0-8560-436a03bbbc13 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:6f97081b-bdce-463a-99a0-d7e2bfde1e67 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:867a46a9-923c-4015-bafe-21f4baf31db1 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:ba3c64a2-e2ca-4f96-8f23-90e0605c84d4 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32256298 uuid:ed3bd5db-02d7-48c6-a54f-59b84a334a27 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:8e371831-5de5-4a4c-b5a1-2d5a94aac6a6 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:9a5d95ff-044b-4c01-9db0-d234d3fd2dfe phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:e93cfdc1-ac4e-4832-bfae-0090d41a34a8 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:d246090a-8f0f-4db5-9588-8750de252412 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:dc4870f0-141a-4b60-a077-28a9e491f122 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:1bcbea19-1be5-449a-aaf7-3528a0587579 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:8d850847-50d8-40a8-8d07-aed8613ed2a9 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:c0aad427-7700-41d8-8735-f145a368e897 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:75a9d682-f53f-46d4-a9ac-6bc4e7e1692b phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:fa09d9a8-8e2f-4b4b-bd5c-5f868ba31dc8 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:54ee3ddf-997c-4dc6-8bcd-1b8eeda07e1a phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:fab45977-216c-408d-b46c-756e14fb5852 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:ba6f6260-d32b-4329-8417-2bbce2199e5e phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:028b654e-ad5e-4ff0-9520-1d30a289538d phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:71595066-6037-475f-aebe-cd4c3f23a5dd phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:68092291-9aec-4a97-966a-46fde7b72379 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:4bd37664-fc71-4e28-977b-b7145137da6f phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:50ba95a8-04ec-4948-8820-619252cc629a phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:2d28cd41-dd90-4824-b451-b00def359d2c phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:ff53108a-593d-4b5f-858d-9de4286077fb phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:88c7544e-5fd7-4ff2-8803-fea3ae55e615 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:13606ef9-8e73-4fd2-aeec-979d05ecace6 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:7b9f3871-ff45-44ff-bfb7-4afe0ecbf90d phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:8585ba33-03e9-4079-850b-54bdef2619bf phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:5b395899-76a9-4347-8661-450258e7340e phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:04452019-6fa9-4816-9865-17431a026822 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:ec99f591-fab1-430b-9ec0-ea72f61d3b61 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:6f4967de-1d1e-42e2-bd94-cdc9c3c31216 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:89e2ac3b-79fa-44a3-a2d4-d7bd8f9b770a phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32256298 uuid:748bca98-dd9a-40de-8dda-d10417af1c92 phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P1Y9M infores:phenopacket-store PMID:32256298 uuid:119efd20-083d-45ad-a8bf-790d79b2f82a phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32256298 uuid:e62d1b94-4ce6-4529-abd8-fdbc0ed69f38 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:35716097 uuid:3d1799ee-8f94-41a6-9c6e-9dd08de04b93 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:5c60addd-6a6e-452d-9767-9455a0ae1c13 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:23f236e5-4c97-494b-91b7-773afb0d4562 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:9dcf67ad-a70f-4a3b-b1bc-852dc360d80f phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:c2feba2a-a6be-47fd-a70e-bb6c4b01a0c4 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a3da5b7a-3fff-48cd-bf74-6a68fc889a30 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:fca4226d-af50-41e6-ac8d-3c14e7a7cd90 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:cbb3d5cd-101f-43af-8224-ad88de48d3b1 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a005e929-9f11-46bc-b19a-5d7ca32e2e0a phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2888fcbc-d76a-43c6-bd7b-11a3aa8df237 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:677e1198-4a80-4ca3-bc58-5e03bff995dd phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:c717d650-5e10-4e64-b350-6c8fce08f476 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:08fafd50-8a53-425d-8999-3db3f182bb4d phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:410675fe-50e8-480d-97bf-14dd3c2c6061 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f2a4b7b1-39f6-46ff-b6ae-f09e5bd99290 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:9b861e10-f02d-478d-adf1-9fb86842040d phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f782791f-846b-4584-8c45-db7cfdc7c0b9 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7868f62a-155c-4137-a356-6ec50ccc49e5 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:18370afd-a8c4-40b1-9ef9-c6043db7e011 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:56b3f256-b342-410f-b327-9cc8d5bb7182 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:416b2488-6445-43bd-b847-1df73d0f4bc6 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:86364826-40f3-49fa-98e8-9d98fad2d8d1 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d5df030b-23a4-4db4-a84c-2db7a8e88c38 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8d2245c1-ca28-433a-80a6-c6803adcd7c9 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2ee5eee1-23b0-47a6-a5e5-7c1345b1af42 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8391a74f-3c3a-4f91-9b76-3198d7d0ec71 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7ace80a5-5aca-48c9-9e95-1ba745836460 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8c484885-6485-4064-9a69-e7e881c04a15 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f018b103-941c-481e-a9c6-0152a9acdd15 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:fa047e69-99c0-4bc2-9aa8-7703e78b568f phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:883d8de5-ef95-4c12-beef-06def74d7ce7 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:866cb83d-0a64-4336-831b-4b0b27a450f4 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:55a7ff08-2f62-4399-877d-9a073cb4e104 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d135569b-0b43-45ee-8510-5c4ab796e5f9 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7f280ab1-329e-460f-a6f6-218a82be57a8 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:dc59cae2-9bef-45d4-98af-9f83fe9a0a93 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:93b9ade3-c49b-4917-9fbc-a9452790dea7 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:da11bcb2-fa76-490f-8cbf-e649b6a96641 phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:b9ca7a74-e1cd-4756-84d2-e5602952fd8f phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7e88e14b-e210-4867-b61e-886fddc0dbcc phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:5248a65c-8736-4935-b22f-48dcadc95f4c phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:81ddc265-a907-41d8-af80-604e42387aca phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:c0838f90-6f68-44a0-b12b-d4b0ae83f0a7 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e165a618-efb8-4083-9ab1-4917a4ed79b2 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:3673037e-5937-4eca-8a23-2de7b4259b20 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:99d2be96-5dc3-45a7-ac4f-f439c805e706 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc86aacd-bd2b-44ca-8a43-18a5d87a4c0e phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d595c86f-4827-4f86-a5d7-04186d59c159 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e58745c2-1af4-4280-ab30-48069e033544 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e45ca5e7-e1bf-4fb2-9824-a177016e64fd phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0011318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:92065e30-b70e-418a-b4ce-68f732a92188 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:70858590-71c7-4dbd-9d5f-380ffd2cf882 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:9ad374f1-e205-462e-9004-67463f274e78 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ad69c6b5-40ab-473a-bcee-9be980fc1639 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e373d51f-83bd-4fb1-a5a4-f5593f6811a4 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:aed6bbfd-c75d-44f9-aadb-1d2c7398890f phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e0038842-03d1-4117-9469-e0e937a8db81 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d9bf99e2-4db0-4863-aaff-fa2cdafcac4c phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f08a5e2e-40f4-4f7a-ada2-9373091fb190 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:aee61428-a8aa-4a9a-bc2c-b2ee17179b09 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2f1a0d62-e062-4c4b-ab83-7229419e226a phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1fa56a0d-003e-446f-baac-1a6404cee7d4 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c3488a4e-3bed-41ae-a19e-c735eddb1001 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f64da316-2fdf-4761-9caa-9ff8c6e2e9f9 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:17ebef51-6999-4a9d-817a-83e229c53d76 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c2b8bc89-b36a-4148-957a-d82608531ea2 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:73e573a6-66e1-415a-846d-422c591dc551 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a3546982-b2d8-421e-98f1-638ad8647191 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:32deef0c-0f0b-4dfc-827d-e37f97a837e8 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:09034a15-516c-4061-87ac-fb8f987260c9 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a57c40d8-6a1a-4eae-bbda-9f05fb3e352c phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b3a2be23-5235-4e90-a788-eb9b63ed3890 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:27206f9c-5445-4190-93bc-0856d81e1e6f phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:910cfa06-3b48-46d0-810c-aed6c8942f7a phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c54750f3-e88c-496d-a3b7-06c25fe1ad4a phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:06367069-2d65-42d3-ab5e-f167060284df phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ab13f160-3c0a-485d-9492-e739940440b2 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b20bc697-b2d2-493d-9c54-49763b02cd0a phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:40c4b46f-b08f-4412-b260-2701bfb1f826 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:68cb0270-9cc5-403d-ad1e-39f4b900e7fd phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:0097aa52-7688-41c3-8ccf-80b3a9b5350e phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e7f08470-e979-45bc-8c5a-a4c7a3068005 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:8faf05b2-6540-477c-97d2-e1beb9d17857 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ad37eeac-473d-4a0c-922f-15023cef3eab phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:44401fca-dd55-4dfa-a38d-5d5609c80ae0 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:4edfa6f3-42ec-4a5f-97ff-6603e3eb0dd4 phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:fe8dd13c-16c0-4e34-a623-b474f9a01a9d phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:cd9e7d37-a930-4b43-9794-40c0f009427b phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:30152016 uuid:d9ecca5d-1172-43c0-8bf0-b6a1dc92100c phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:30152016 uuid:b816da58-867b-4db0-af54-137d62f30769 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc8c583d-6dbf-4ad2-bc5f-14f8a98adcff phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1dab9cdf-9286-4d75-8fdf-cd68f3ec1de9 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e260ca0b-db26-4e4f-933c-ff8b44aacb4c phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:08c3b583-6d50-4273-9353-d6ebe1942c98 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:37eb1114-c3e8-4a7a-8876-32c780720904 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:36f7da2b-02ce-4000-bbc6-94b70f2a90f4 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:81666bee-4ecf-45f0-a6e4-2f116dac3dee phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:79300bd3-620a-4876-9c06-eba8bbc0829f phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:11ed4b55-d0fb-4bdb-82ff-84b04da3422b phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1776b5ae-eaea-4d01-8eb4-b83cc063140d phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:53d184f0-0a0d-4ebf-9f07-9aa093ee2268 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a85536bc-e532-4586-918a-6bbe8d3bc419 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0002781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a1449b48-f5c2-4bbb-bb5c-69b56105be80 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0010674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:22c3db8d-df5a-472d-ab72-f09040b66334 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cd749b60-2f82-404c-93b0-042251fdfcac phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:8b5ce232-385e-4d4d-95a1-0bceae962c52 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3bf703da-5b23-4332-8a6c-ed56b952058d phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:8176964f-f2b6-4712-8180-f0db3a91d43b phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:0fc50a71-66ea-4db0-a185-2de2b3b33149 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b7edb794-6840-4e7f-9f94-0bc4fac12a45 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:966f2064-7ca4-4f52-9c3d-fe1914bd0c99 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1e7d4191-3323-4f6b-855c-88827a7c16ce phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:09d480c2-3fd3-43b1-a3ab-8f53fbc8d4f3 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:aa95e2c7-77b9-4f66-be98-a3b345a3533e phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d705ea51-7c04-4374-8a3c-e5100397632d phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:734af41c-0cd4-41c8-acf4-e3d98996ab31 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1eaf102a-901e-45fc-9095-4ea94624d00f phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5f121639-71c1-43b3-b29b-122b81447390 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a20a2444-bc7e-4acb-9839-6783ac3fdc2b phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:0f579ee6-8282-4312-9622-aef96d7f1797 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:85d42b61-f82d-4dec-866f-f7190d2a85a2 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30152016 uuid:84bb0307-a790-47d4-b807-59d764f6d209 phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:1dc25453-1607-4125-a577-4f87e499f722 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:73b85c8c-3ff2-4bda-a9b0-9ba4ac835447 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:27cfd424-4d21-4df2-94d4-8ad27c757575 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:f50dfa41-c29c-4729-8277-52de7f002d96 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:3c259fa0-bb9c-4db0-8e75-938bc9bf2208 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:7c28b140-cd1a-470e-935f-4446a54c2359 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:ca0eaf7e-7f03-43e6-88df-b163eabf6394 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:ce44576b-db15-4821-bdc4-f4622250bdd8 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:1444860e-004d-4cbc-9620-a17658ab96ae phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:d029e0d7-6e2c-4713-8cd4-60b22303d215 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:9fa42e08-1ea4-485f-8e82-03626943886a phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:e2b09b1a-cd27-420a-9232-50b02c4178e8 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:7115c420-8670-4a2f-b7e1-9980bbe3d66d phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:522a0ddf-9d79-4e35-931f-9a02c7a9fe00 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:f0b399de-be07-4ab3-8f2e-c59e664d00c2 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:2011b43e-e7d3-4b0a-81d2-afdabda98f82 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:cdadfa53-79d7-4ace-8043-c847157781f3 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:5a399c56-1fa0-4bf1-b8a3-a29184f8e147 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:1ff828ca-b414-429a-a478-550d4b5289e5 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:43380652-4888-4242-afe2-defeac2f8a1e phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:5cf520d6-9a97-44d9-a309-96b04ed2c3b2 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:990c7e81-f9d4-4266-90a6-b3007ffd32b7 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:6d975876-c2de-4ce4-852e-6ff7d44f612b phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:c7192484-82cb-4039-bd23-4afb386d6b26 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:17648870-c796-42eb-9e24-41f992b256a2 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:816ca1e2-be59-4c75-8e09-3ffd31550bf8 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:be2d342a-4d25-4712-a216-efda7cc0673e phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:1a51c28d-c5a3-42cd-8c46-591aee3d5cb8 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:43ff1238-207f-4a76-9d1a-c12b3a772933 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:1ab6c641-90ac-4c2f-bd06-a2141ea2247e phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:d0208944-e040-4985-8011-53ccc0390e35 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:171093d2-5b70-424d-8b54-8460b74b692a phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:64ec893b-2935-4ca3-bdee-e441f0490c44 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:7acf55d4-9e69-480f-8bbc-0ad138d495b8 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:ed161a11-99f1-4f1b-a3ad-26e4c282c5c3 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:b5325f84-6711-40a2-ba2f-098940bc87a9 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:cdd73cc5-233c-43b4-8837-b8831770874a phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:0e0e3e22-6986-4cfc-a561-32628c4cbf27 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:e9789850-ec29-4981-8586-242c03e1b5d7 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:ee0da5b5-dfde-46f1-98d9-f43c91acc042 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:ae0c7eb9-e8cc-4756-8a67-137a6d9e6bcf phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:25ceb5a7-3121-4257-9553-67fe275b3a78 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:c13ed381-0329-415a-a1c6-8939c91e02e1 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:0914351f-6fd2-4157-b34a-2ac9f5da210e phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:b9a5c651-557b-400d-b0a7-526d1f621c23 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:f2b21e39-94e2-4d96-a4bf-07ee8acf213f phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:cbfc1fac-98f7-45ba-a4a7-4b397c951bf6 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:0de109ce-14bf-4d1b-b720-0920eb173a31 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38357260 uuid:a834fd2d-b81a-4bca-92f9-c7efcfecfe22 phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38357260 uuid:152bf37f-9102-4d91-b9e8-c308a2cd96f8 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:0f51daf1-f859-4200-b6e9-0f76e58809d4 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:e0eb1265-d30f-45de-a211-4389db07cff7 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:14336cf4-ea16-4e2e-9aed-e9fb1be3dc96 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:a1bb8feb-b409-4273-8fe9-6acc3993d025 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:1d313809-df5e-4b26-960b-9eb191a43b92 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:b2fc9b87-8818-4306-8960-9ba2a5541e84 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:03eb7160-e217-48fb-9b6e-e77ccb71213e phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:00300da1-fa4b-4088-b7ad-b35eaebdeb20 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:ecb96bbc-2d94-4aca-82c1-c6481f564165 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f1bc9834-63be-4584-9492-6f9b3aad5897 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:488a9d93-ad17-449f-871e-588604d07795 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:08181908-f52a-48f8-98c0-8872c8da8c4a phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:dcda43bc-a371-4703-8b90-b6dcd036546e phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:80c81284-70b7-4cb5-b05e-591d6d85d15b phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:e968f5a4-f040-434a-876b-3006a0a1b436 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:4ca8be1c-ee05-413d-a5e8-5cdc421aea1e phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:8b8b2ab2-b5fc-4407-b5e0-d9ee3c7d598a phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:02a4589d-984b-4b5a-9c2f-49da01250389 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:069984ba-678c-4c1c-ae4e-01b9ad367425 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:75a843e7-16f4-4c21-9353-da0be3956aa0 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:0a98cecf-f46a-47a7-9e23-b8f28d101332 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:0ae476f3-ef15-4d6f-8716-11361c793a97 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:5ce6d685-df46-409f-b039-faa8a654418d phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:82a94694-9d25-4bd5-b023-5a0e50b6409d phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:2326df1d-0ce2-4239-a6f9-1f028b073dea phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:68af3b56-b221-4377-b9e2-657dd2cec4e3 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:2b14f5e6-0181-42b8-a98f-cc0dd7f6fb6c phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:354c8c9f-4bb4-4f99-a67f-8751be93ef88 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:cf90b09f-9ed6-4f92-a021-df703c3c2aab phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:d5606524-94df-43d7-bd0f-59b65d259929 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:68e80b14-e4f6-4c25-bf65-e21a2da2ed70 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:d7bea129-e148-49c8-9929-12182d99042e phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:2d266ebb-2c18-4d48-8f39-26c25b3a6a10 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:84eae52d-d423-40b6-ba8b-afb9e217e84b phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:ffcf7694-adb5-45f8-b75c-bc0eb2ffdb8f phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:cc4aaebd-f0ea-4d0d-b88f-67ee2252c894 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:20e74faf-7922-49ef-804f-ff9538fb38f3 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:4dbe6fa1-1647-4e9d-bd70-4776832ae666 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:039ef86d-64d2-45d0-afae-245d0e2fa4d7 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:ee277571-d01a-460d-b0c7-596a28e41d04 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:857c1fda-87f5-48ea-b0a5-c34582e4adf2 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:263555f2-74a2-4e83-8d72-e7fc91086523 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:429a4ae6-d892-4522-94a1-3e06c2261250 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:6759f86f-e143-4710-9cf4-afb88e82b4b0 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:be96a59d-d05f-4b40-ae7e-ea38711091ce phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:460c703d-16c3-427d-a6d3-b37cdc1a0710 phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:ea936388-0dbb-4499-b7ae-de3356c9ddeb phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29696776 uuid:4b24e151-8a4a-4428-8a6f-ef9443494231 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:8194267a-a73c-4913-84cb-f6603e979d97 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:bed06281-9d7c-4bec-849a-b1662593b107 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9c9f044b-9ff7-47ad-bbd8-3380a9d578a9 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:2acfb603-49c2-4b3f-a804-5b5a76e32a8a phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ed61fc73-a882-4df0-b529-f46faf0d89f2 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:0130570d-507d-4db0-b7ce-50d62273d835 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:bd1cf87b-6c34-4cfc-a2e3-59a6f7740ce9 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1fc003e2-4f20-4f57-b3b9-13bd10aa91a7 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:5906a59e-45a1-4650-aaae-104fe8f1445a phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:f58de53a-1358-42c8-9d81-62da13aec79c phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:3f215024-2cb0-4007-9794-01c1ceb6256e phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b61fe664-a929-42d6-be71-899f89159f5f phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b2b56e06-f0c7-4a07-9640-bbe95fd452e0 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9befc3a9-980f-4645-8ed8-fc6d137df6c5 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:843aa1f4-4883-47cc-aece-64196b27150c phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:aa0f1a88-6098-4ee9-af48-dae2acaaba5a phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:63b526df-fd9e-474a-9069-5f5024e953cb phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4599be44-9b6c-4bcd-8ee5-e6bbe58fa404 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2c269a81-f0ff-4da6-b641-d56dcac694ce phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2d0b906d-e1bd-4c6a-a68f-610e7332e460 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c30ea43f-fa29-4cae-bf6a-4f1b0211e049 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8534588e-ad23-480f-81ce-a2ca9f20ba6f phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7a94a177-74b0-46a0-8fb4-50ec22df3bf4 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:898de8c6-2e83-4ce6-82b1-959fc7ed937a phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dff54dcf-01ec-4f9f-925c-87bf3a5fb298 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:93a84d02-d88c-4a41-8e63-8354927d3769 phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:41ac8944-09d4-4b8a-bc78-ed517fe8395b phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:0731f30a-3b1b-4247-8077-2b147f39aabe phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d2c00694-ca76-460e-941e-7c9b6ce5dcc0 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:11018abe-9a11-44ba-8753-f9326c45d7da phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:83486113-3f89-45e7-a7db-f8bf4891848b phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d9209b26-66c9-4fb9-9473-8df8444eb5aa phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c8512e26-2ce3-4f8a-b747-8d760c4094e9 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:cbe17ec4-e1ef-4d9e-ba5c-7fb663949cf6 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:26c86592-80a4-42af-947f-b0e769721e3d phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:fd5207fc-97e2-4136-8dc5-ed75421372c9 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:78212f84-12e7-422c-9bbc-4f02e6239d74 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:03010546-8000-432e-a6dc-e3c8a8aa1057 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dbc3c8b9-5adc-4aea-b929-7126d7a5ef00 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5fbad595-9ad6-4b34-a5ed-5094a57cfa3a phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6196bae7-cad3-4765-aa84-71585968efa2 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:20a2128b-ac41-479f-b4f1-024ab4d595c5 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:260bf928-8574-4618-bdd1-3995011ecdf8 phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:6c40d879-92a2-463b-ad87-15c28f642dbd phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:e8d68ae0-ef9d-41ec-bc8f-66fe3b00d8d6 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:024047e0-9fcd-4888-a546-7d2d3a30915d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:3470d2cb-8fa0-458e-a01a-f9cae08aaae3 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:c01cdd38-668b-4e73-8820-b0efdb0d8b2a phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d8284b3b-8c8d-433a-a78b-6c76b2e6dd5d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:35ab843e-6846-4f0b-93af-8ab2bd211d8b phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1f8dd8e4-6c6f-461e-ac2a-85c591373638 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a5d6ec6b-c7ff-4f06-9557-9d315569bdb0 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d01d39b2-ff5c-4e40-8025-7d4b03102888 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d1ded3a6-2af9-4666-b782-5a50b5e3cf2c phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c6a81edb-b2e0-44b3-a5d1-253197ed97df phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:9d68be55-b92c-4193-b7fc-445d003636da phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a5a48618-e936-4f33-ab77-9109ac53b7a3 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:db9c227d-9671-4623-a6bf-05dd7011226a phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:084795af-c508-4395-ae5c-268108a6895c phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5fb94710-361a-4e01-b41a-db371833693d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:bdcceeb3-e43e-48c7-ad99-1783027b9f96 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d295b104-aa89-447c-a14e-ae9cd3153e0e phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:263f368e-be8f-47db-8419-3cba57e7e74b phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a19fee27-a94f-440c-b476-d19a2ea69cd8 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:03e085f2-3cb0-4ea2-bd25-04cfa691631d phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1bb82b68-a3bb-4348-97f6-0a1dc42ceb7c phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:832af443-edcb-431b-97e6-97a158b91c84 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a4586141-3adb-47f4-80e2-b8f12ecfbf0f phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:989c8032-79e5-4411-918e-d4517758d29e phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:513f7daf-3880-4958-aa37-c12890dff5d6 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:859b2737-595b-4fd7-b82e-da5d6fbef3b5 phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:f264fca4-1f82-4914-b206-b5a8b5e55a6e phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:969c2ec7-b0cd-49e5-a3d8-403440225dbf phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:4bad15b7-09fb-4127-a0cc-4e030d3c00e0 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:76684ac0-5096-475c-9dea-44e2455b5c61 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:6a3c5412-7758-4f17-9807-6b37e187078e phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7bc449b4-1728-415f-9647-58f0a60ca164 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1da1eec0-5e18-4ca2-988a-238a540a4146 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1a717613-b57c-4ade-a2aa-f98a49edb7cb phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:34736121-f9af-4ca1-8ffb-c71eb0f099a5 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:701a148e-0af5-44cf-a4d9-6daeb27ba93f phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1805e456-623d-4eeb-83f4-44e7b27ce6a0 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:54699be8-b7de-4716-943c-ab5d73a5fd3c phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:bc4d597f-e55a-48f9-b78e-3225fcaead42 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:2c3cdda2-59ae-49d7-a2f3-728b126c9289 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:39fe031c-ed19-4c2e-801f-638a229e7c07 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:dba5dbd2-f3cf-4d90-a01e-9d0108d81426 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2295defc-d491-4220-a1a6-c0c040f3783f phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5443e87d-107e-4329-870f-c016c4209292 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:49c7a0ca-ed1e-4d6b-9b5c-bf78c4fa219b phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c4182c2d-dee7-4da1-8668-0ae5ba6f47c3 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:169036bf-6af2-4237-bf00-9a11875b4f1a phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:2847c386-5aeb-4572-b5d3-394f2af517c9 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:29224163-4ef6-4cf7-b043-421f323a666b phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:abe13b41-634c-4da1-9a85-f8f5ea259a6e phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a2cb222f-8e75-4d0b-b7c9-3c88b6adf1c0 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:59de10f4-739f-49a7-ad63-b46a678993c8 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:633ac3e2-71e3-4ce6-95fb-6c0ef9c47804 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:377e9cec-f4c2-4aa2-9210-68458f6ebdfa phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6f13b317-24aa-418c-9e49-90ba7dbb6d44 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f28dc1e4-8d2b-4a9f-9ae7-b342f8367f87 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:774bbd55-fc48-4967-91a1-770535977b84 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:73659ab0-c184-4ce6-905a-60173f78460d phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:18f8e793-aa83-4b9f-921b-1f88c4d224b1 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:20dad48f-ceb4-45c1-94f9-340687401f74 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:10656b31-46be-4e79-8e9f-adbdb212c389 phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:2616f72f-f286-4eab-ba4a-e0b7457669db phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:84983cb1-6ccf-41cd-9a93-48cf0f225e51 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:ee083b64-1d2b-4b07-b7b5-977c974226bd phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:c6acbb75-c202-4296-83ab-84f792930639 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:cce6b112-ad87-4e65-b783-944417c4993d phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:40174f0b-5b86-437e-9711-281f4ceb73d6 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:a72ed873-60cf-4d07-b38d-253071250efe phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:f84b1ea6-1081-40c3-884c-565d2c4a2882 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:97880ee9-8e15-4b43-8d35-2dc974a108ae phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:fba5aa69-e748-4bfd-9b00-07f6a54ae865 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:084f2be0-a40f-4b50-8800-4c6b91ed3430 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b5232099-8aa2-4cb8-a7c3-c7b440269e64 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:312bb274-f07f-4140-99f0-c7798af3fd04 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:1d9ab408-811b-44f2-8fd5-04f8565b1210 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:5482edf9-6e70-4b50-8c78-f4888f52a7fa phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:0ee1ddbe-07cb-49dd-b591-99d81840860d phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:b9de8ef4-be98-466c-b7c2-63b805314f94 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3c65fb9c-fc7b-4767-a167-abe581cfe5c1 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:16dd9e95-5475-4cd6-b678-34894d738735 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:f9f12d2e-fe00-4c72-ad57-6a1fa8f96613 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4d083784-1dfc-4baf-93f6-763509af7e4b phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4aeeb0a7-a9d2-47ef-b13e-01aa66eecc03 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9ffdf16c-3e97-417d-a830-4e7d26f73d91 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:5d57bdc1-5c76-4caa-8fbe-efc0ced1f7b8 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:f11cb68d-e72e-4491-8ef2-9f1e8f0d3204 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:4ea6ef09-5a80-4d10-8df2-94809e4903b8 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:e6e3473a-511f-410d-9f7a-bdb6ec17199e phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ff5ca48a-9ab7-49e7-85ab-5e9dbf417d82 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:dc1c77c8-d7f2-47a7-93c9-ba4e1ca3046b phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:6ff96c88-e475-4baa-a4dc-15d4f754aac2 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:c84eaf57-a3e0-4f90-ac2b-81c15b00b641 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:7c638f67-8dce-4796-b677-56054571b09e phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:878902d5-7908-48d2-9fbc-a53af4ad6b69 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:76e64b25-f012-4518-8db5-59495722f347 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:0a0d3703-f0de-4828-b7ca-02b690fb4487 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d1c7bf17-54a3-4ac6-bf02-122a57a2c243 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:6b9c4b9a-8a2c-4f68-a281-a8b6b00ac10a phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ad29e490-1658-4d4d-8772-1b2b70f47afc phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ccab8823-bbeb-4519-b372-5ec2ca583a8a phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:478a766f-2516-4228-9882-aaa56ac80c80 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:ee424e8e-6b3a-40c6-bed3-0b4f351e42f1 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:dee301c6-b2de-4f08-89df-1caabba077de phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:b1af672e-8f9c-4e08-9f69-5e798ce98c76 phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:94332d3e-d2ae-4a84-8344-321705888c9b phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:ab6e0b1b-81f5-40e3-9e26-af13fc0bf339 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:1d7bd342-3a8c-4e47-9ffc-a01cbc51733c phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:ba58161a-78ae-4ee9-9fc9-d90243f2ddad phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:137e29b6-a87c-4a7b-ade3-155b7d4d7bbd phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:d1042e5c-1509-4936-9950-0785f73b4ed6 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:263fa10b-e829-48db-b33e-5e18a48fda33 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:8d4f7bf2-f750-4519-b6c9-5f93de767b70 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:622d2aea-e474-45d2-9d56-4b47c82fa62d phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:aa6a1d7d-f419-400e-80ac-0bc68dda60d1 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:a12af03e-193c-41aa-8233-6bc9a7d3561b phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:6e4d8860-e061-413f-b43c-9c8b4ae1bb3f phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:529ff1c0-5770-4620-bacc-1ac725bfa5be phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:ac560fc5-7c27-4ca8-9205-87a4dbe032df phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:0104cc99-d800-4027-9436-51bef3bc3e29 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:ff94e258-4875-4de5-a493-406f75df30c9 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:78d0c32c-d391-4735-9a7e-e6fba289c811 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:a825c767-e615-4aef-873f-539b11a2184b phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:4590f239-38bd-40cf-9159-6271e3d51816 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38357260 uuid:d3d77c9c-be0d-4909-9a4a-c8712ee831b4 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:f40b5afd-479b-46a9-a0a6-9a8f1f2a1f7f phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:3efd6a28-de87-425c-bfa0-b2e9d081872f phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:dd38df2e-f54c-435e-bcb4-e37b668b31d3 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:ac1ab482-703f-418f-929f-b3abcea99dd7 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:6bec6942-4b7b-4f7e-b93d-ab5a272da992 phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:4a2c4025-e987-40be-aa84-d94c319e0f6d phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38357260 uuid:777fcdc3-3297-494b-9a41-65af7a6b0edd phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38357260 uuid:ea8a57bf-7a66-40a5-a205-011710a5c73a phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38357260 uuid:5ccfccc5-f31d-4935-be75-453e093a9288 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7ccbdfc8-54a6-44ee-b86e-1855d7c17c04 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:96fb097f-24df-4483-8c03-7f6f5b713c78 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d209bf2b-6cd3-4097-86d8-dbbbe0765a3c phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:c9970c38-7b68-4434-acc6-3baab1edaee9 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a7912486-f2da-487f-aa91-f5c27a30489a phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fcbefb23-6e1e-4ad6-8dd0-125fe8705d7a phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:73330307-a89e-405f-9e3d-f8e00eb54cda phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:930ea31d-8051-4469-a4a5-2a7a93f9f2ad phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:702d11a6-b07a-4e3b-9b15-9011ed3a63df phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:160d1f10-b758-4338-8396-b0123dbcb8ce phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:efc336e6-9b51-48d6-8d0d-dc07a89c270f phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:0ae1379c-8fdf-4549-a3fa-14b92cab4600 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:df7fb3f1-5cde-4144-8ae8-6676197401ce phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:680e8702-13f0-49f7-a64b-d71f6815aa02 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:32070535-6551-4d00-afb0-77de27fafb4f phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5ccd6564-2750-41bd-baf0-99427605c518 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6e582c8e-ec8e-42be-bdc8-ad5440ad9642 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:68721f74-76ff-4357-a807-5fb7e7422c05 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b989e818-1c7e-4b63-87ad-45a7b3fd011f phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:458eb0c2-1040-4701-8002-e54facad527a phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b9f875c2-a735-44e2-9d58-b395f98f7db6 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ff30751d-682b-4981-a7ea-09ab5eb04284 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:75548d74-88bd-42e5-ab65-450c06203f7f phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6eac4bd0-181e-4e84-af64-88eaf0caf2ef phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:22736e5b-7847-479e-a6b4-6c5d5f4b3aca phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c3e8491f-79dc-402b-8fe1-b8c89b6e03a8 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:dc01de43-857c-463f-97e6-295355743e88 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3339e419-2f73-46de-8a93-810237b98eeb phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c109e8d6-10d1-4087-b806-046d31c191b9 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3a3d250a-3102-40b4-bf0b-fc3fc270f333 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:519cfb96-93ad-4e32-a387-34d843c6f66e phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:8c4926cd-d7f2-4ac2-b15f-7fc49ac7e158 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:4fa6f205-dafa-480e-b16f-aafc5000adb9 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:04a7deb5-8db6-4c03-87cd-a739b520ac6a phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ebb081d0-f154-4fae-a47f-75772ead1104 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:62b24c63-66f2-43ac-9c71-363315884c51 phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:d296753b-3918-4a3d-956c-25f408a6fa2c phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:46855b0f-fd9f-4c03-8bca-5f87b123b353 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:6bc71ec3-b345-4424-9eb3-f8416d9cedad phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:72132486-1214-46db-aebf-b358153863ef phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:eddfb671-0ad9-4e37-9135-d618c112fac3 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b383bbb1-3b6e-462c-af50-4b70a9def065 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:e3b4b5dc-4c47-41b4-9940-26240198f238 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:1912d696-8d48-4397-b792-6f086bfcff65 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b9a3512b-7803-43f2-bbc1-a95f392fa5aa phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:cf23775a-9cc4-4bde-927c-ad6891280930 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8b405ddf-146b-41fb-bed8-ed2fd32cc73e phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0a2f9244-105a-4c79-8306-7115037833f5 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9ac90026-b4a2-4372-8210-c67bb6105f02 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:71d31726-3ff4-4f2d-a0a7-15bdb53a0ea8 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4957602f-12e0-45c8-8f52-5b79f1e414cc phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:04159fc4-865a-46cb-b8ed-d525ecade305 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:1e1cac57-4d7b-4f67-a877-999e12cf9884 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2be3aeaf-5e05-44d8-b92e-95c182149404 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ba3d0e3f-1fcc-44d7-b54e-b82aacda374e phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:69846283-8d6c-4e3c-9203-9d7cd659af85 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:b3572700-1f5a-46e0-a39c-5e03f16bf434 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:91ae4bb4-e561-4a27-9c80-09f55d892df3 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ddd5398a-d097-4c5b-a577-f736e7297d66 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a3abf612-2257-4425-bf2f-aa3d4313c3d8 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3ff5f6c4-f7c5-45d0-959c-786548b335b7 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0f8ec169-c657-43e9-b8db-3e52ccf4ad1e phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7eb6cc45-492c-4206-a5c6-585ea361c50b phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7b1796b9-29fc-485f-a20b-3cd46d3d069a phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:99295c12-6c4f-49ca-9321-98caea6a27d0 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4a99d75f-5143-49a8-9cd7-0c6f4db6c533 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:f6442ce5-626a-43fd-b345-4e0832563f47 phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:48699e50-4e8a-496a-940a-654238d7242c phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:3948eb50-3eb6-439d-bd9c-9341106bec17 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:1fd7282f-dc01-4251-9613-31c7da4f0529 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:d453778e-ec9e-4af4-bac6-68c3a71118b7 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:24ed8516-3298-4ecc-9b90-c984ef3c474b phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:2281d276-c29a-495c-a25d-37425406e717 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:b09a9a11-5704-4d4b-a5e0-04e84056eb7a phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:1576a7a5-eaf6-4165-a70f-edddb651232e phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:af0503a4-6f73-4db4-91f7-f2f30410aabd phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:5ae09a07-6df0-40c6-ade9-f83daabd0096 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:9de8f54d-bfbc-42de-a6f4-62334b6f1f9e phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:a010e754-32d6-4b49-ade0-ae6e287143ab phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:c7219770-6738-435b-9308-d493ae95d8e8 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:0c509ea4-5800-4202-a834-67d4d8d13c10 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:d5a67efa-2d54-49fe-9c0b-cb484ae95daf phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:9dca5bae-7eac-48f6-8511-c0cb5a9d8c7c phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:b195c2d3-51ec-4bf2-9911-d296347e90e5 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:017dede9-6270-4fb0-b9bc-b6335ed0a3e1 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:3c55699b-166d-47d6-8678-ef53e55eee02 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182893 uuid:093a3571-9683-44e2-9a5c-39cc2802ff93 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:19d4e11f-488e-4084-b899-4bf4a352cfc7 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:dd3f20a6-a1cc-44e4-9cce-aa358a9254b0 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:bf727170-735c-4c6e-8e58-056db7bca0b7 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:64c37789-b0e4-431c-bc51-c61b95d254c5 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:4aafc411-86ce-4649-91b5-b4c0189fc852 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:cace6562-4de0-4f49-bc8d-f9e31bcae008 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:7e6f9634-e428-48cb-a2b0-1cec8a7358de phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:6def8059-7c0f-49b8-ad6a-740d47f033aa phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:c48f94b4-c2c1-42e7-a5f7-9d60f5e9a80a phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:4fceb504-27f4-4b21-b6b0-27e4cb758446 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:29a789af-6180-49bf-9f35-6bf72a80082c phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:b9fc5bc0-99aa-4219-bc98-48226b1cd7f6 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:a9c67cb5-076a-4abb-a383-a0e4ffd0b16b phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182893 uuid:e8d15e22-3978-41e0-a618-19e0cba879fd phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31182893 uuid:9cf744c9-302f-4df5-b8f5-b25cf20ae810 phenopacket.store:AHDC1.PMID_31182893_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31182893 uuid:7132caf5-5ca6-4b72-8faf-5c32379d1edf phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:473edcd5-270e-43c2-a09b-ac40a466c315 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e5382657-468a-4c6f-af3e-782fe355eee9 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:429f5758-34a2-4933-8ef9-7f25a0b9e785 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:872dc08f-9b69-467e-9d2a-18c349d76be5 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:06c3f780-ae6c-4812-a348-539bf491244d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:ac6e306e-a744-4135-bdcc-bd5218f87b33 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b531f8cc-3160-4999-9a27-1590ea6866e2 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c5bee870-38b0-41bf-a960-76278ab92964 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c65979bc-6ae5-402f-bfd1-d8f76aabe364 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:0cd5c1b7-627e-491e-9300-525ec4e11b2d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e4960e33-5023-4261-a01b-e556e95b108d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:dd6794fe-6790-4ce7-a94e-eed9b6385885 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e4c93094-93a6-479d-a321-1d63a5ce7371 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:77075555-351d-477a-abaf-938b85b2b18f phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:908fef6c-fa60-41e0-a3dc-8f134f69059d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:f861a000-bc1d-479e-8ce0-f44316e066e5 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:68fbcd2a-cf7a-4e87-be43-06c49595ef1e phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0007269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:4fee45f7-ba6f-4b1c-85ff-fc6cc11c2c24 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0003323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:25d3b2aa-92dd-4f28-a06b-b229bebe626d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6f0b9550-edb3-4894-91b6-9ae2f9f829fd phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:2af47978-9ed8-4e1c-9332-4b3e84866e44 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:f3f4cbb4-daa1-4e4d-b014-1562df73a7ca phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:0c0f0a6a-0833-4c7f-8f0b-a795a92d0fae phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:21f8f969-d3dc-473f-9cdb-f306461a5ac7 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c20b8c96-403d-4ec5-9b15-696bdd98935d phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:af64f1d2-86e1-44e7-983c-6229368d51bd phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:7d4f0297-c099-40ae-bd41-0978f83573df phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:d46c3cef-a224-405e-8b1b-1af02ecd2acb phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:64bf6267-0b88-4642-895a-862f5d309cf4 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6ff6e0d8-c650-4f67-9929-619ce3602996 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:05064285-6096-47ae-8814-dddb6887887b phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:4c03dfc4-17d5-4580-83c4-1a58f6299116 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:16aee402-21b5-4b79-bce2-fdd8b0cc4378 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:89edd23f-aa3d-4a85-9ea6-466139660963 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:0700acab-7d0b-4298-a62d-0420ce7b8f8f phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:ebe0b071-6bed-4125-91ed-8c025185a1c2 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:80525bc4-8c48-4c3c-9a42-32aeb4d7fb6f phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:1e58c6c4-8535-4dbf-b4b0-efe68f0c3b50 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8cbfef3f-cc17-473d-9540-e1bc79be6686 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2b967e56-f1d5-4715-94be-8e1a6832c4c5 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c9c0fff5-507d-49eb-b24b-dae580aa7d42 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8eee1f37-4a5b-4984-9762-d1cac2521597 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:1d142809-355c-401c-80d5-31f25de39a94 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:df951727-a51d-45fa-a9d8-4fa7b1c52b2c phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2ef1ee8c-9856-4532-a606-6f3832aac0d6 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c0f2da0b-7d94-4485-bd1e-b6369281fadb phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:54d1f106-08cb-4dc8-a795-d49290007b7c phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:2c0a21b8-18ca-4cca-a406-b35621e9e3b6 phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:928fec5d-4212-45cc-a55c-31c96cabbd04 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:976420ef-8096-4af0-9309-d8763ef01459 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a3599d1d-28d7-42d8-9871-ed091a9b9478 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:de0b6969-c4c8-4369-aea8-3a98561f84ec phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:887d75d8-c577-4ee4-b047-68dbd7eadd32 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:136d7191-d19c-45d3-a9bc-5b7a74a79631 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:4599b459-6dc3-40d8-b6ce-0a3f9f631001 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:51e5dbc7-40b9-4f4f-9676-4aef1bc8802c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:33a5509e-a4a4-428e-81a2-9d95bf2b6958 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:390250f2-fe91-4d51-bdbc-683d1ddcc781 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:9a2a1840-20f0-4fba-9bba-b2f5241a6c07 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:13255e11-87a4-46a6-bf62-32586c21aee7 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:1e365ae7-4c94-4a81-90cf-71b4ebbff308 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:432bddf0-8555-452f-9f53-75fc68859170 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:e534ca9b-4819-4dfa-9491-cfcfebcefd71 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:7fc8f93b-c9ce-4011-a8f1-6a41ab53db21 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:fda5b5fa-898f-4662-93e7-f95f1ac7812e phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:d8d98262-eee6-4c70-8a30-65f38f0c8097 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:682894c6-2088-4275-abcc-bfc8148c0b03 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b5836e38-4562-4800-b489-360fdf48aa7c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:9bd71118-f5ed-4ff0-b5e3-c1486b96be8d phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:7c64abb6-327a-460d-842b-91e778db62a4 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:9723ed18-6ead-41d0-b22b-b7ff3bc987d7 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:488452b3-18e6-4a36-a1f1-fc1614300eb3 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8797858b-c530-4a5f-8c69-ca7cb997f054 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:50d83bf4-fb96-405e-9f41-ac4ab54afa0c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:0332afd8-9531-4ea6-94e3-69c2639c9ef6 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8455b502-eef0-4e42-b217-37974f9aeb13 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:94bccf1f-21c4-416b-a007-fff984ed359d phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:232246e2-2fc1-4d09-bc5b-8231159ebc58 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ffb9d9bd-3869-4542-a5fd-70960dca0b02 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ced1c5ed-753e-4845-9c62-c878e92c7fee phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:5f8fc161-3f08-433b-acf2-2d2f11b033c3 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:32cc6418-c95c-418c-ae4f-9e350ede9a9b phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:4737f648-dfbb-4184-8a13-8706444009c6 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:54b31f9a-8235-47b4-9c6b-6711f6920919 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b0050413-1fdd-4b4a-b19e-8bf4294586fa phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:8f1a45d4-7948-4f4e-b341-4025b203001d phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:d4fe2931-5ad6-463a-9a59-3639fc4570a4 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c3520b27-a65b-40d6-8478-6b6a78011652 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:52d12439-98c4-44a7-aae9-c971bd5b914c phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f3c4253d-bdad-4c22-b27c-d70b9efb5aa2 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:044793a1-eee1-450b-919b-df25e689c32b phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:6f0949a3-a40c-4772-9423-d97a0f7623ce phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:486db29e-4844-4a33-aaa5-140de9962746 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:3bfe869e-dcdb-41d4-a3eb-dfe8aeb39271 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:6909a49c-7bfa-4805-b99f-d7ae4f660d8f phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a436d080-f92e-49a5-80de-e7069e419a60 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a9993742-4f64-40ce-b978-e914ff9bb596 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:6d5c31db-7841-420c-ba0e-e7f7e9736f49 phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:df341d6b-dfb4-4b4d-b596-077692cf0adf phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:97be6a77-b1dc-4f99-8b93-0dc5c4770ba3 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:074b3df9-b72e-4428-ad65-36114245be07 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:71f41d94-5a25-427b-a5d0-efd3e5307cc9 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f0cac25e-03cf-42a6-abc6-55e04b5889e3 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:9a760766-d74e-4fac-924e-a229de15898e phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:c7adda4d-646e-4edc-a01a-ce343dcaa3a8 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e460f96c-65fd-401c-9bd9-3f11e72cb62d phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f1292839-00a1-49d5-a4dc-f50a22d27e0c phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e17fadb1-f209-4e6f-8f15-a8daa2c98a70 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:013f6f61-689b-4ba7-bbcc-e41931d57784 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5309c8cf-8839-41a0-9038-98070be35d2a phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1f5d5d0a-7b12-4c2f-886e-aab8ab362ebe phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:a57e604e-b97b-4cee-80de-2a824195facf phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7718b11e-75dc-4dcc-9268-8c6bc22811bf phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:26257266-0f2a-42e4-b2e0-286f0428ff1a phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d18635e0-688e-4769-baa2-e762ded3b31f phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:cdb0bfdf-66dc-46e3-95a6-2053225a3bb1 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:a5f06ea8-f41b-4adf-950b-8084acf77a44 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5413669d-3c2b-4015-b0eb-fcfc1fe0f202 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:1c7751ac-f736-469b-b371-3ec5426aad6f phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:acaae8d8-3c5c-4732-ab33-8c3e0ac4ca0e phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:91189169-0b14-4120-b850-e1074b1871dd phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:be63e13d-44ac-4a37-a600-0801f9ab79e8 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:44a22ee4-7190-4fdd-ac21-33bde7d2fc92 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:db4c3e3a-88dd-4c82-8826-e59c8d658520 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e83b0dcf-9b9a-49d4-9c3f-6605e1a91ccc phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ba617b4a-46db-447e-b6cd-5729da0e714c phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:11752123-6996-464a-93ad-70f0905c4ddc phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5a8a434f-60e2-4033-93dd-d70e41cbea43 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:44bdbfce-8ca4-4698-ba73-3a01bac16293 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6dd279f6-b86a-41e3-9089-ea1561574433 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:751ff3df-2ed2-456a-af6b-db54daed5169 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:edff8642-7191-42ef-878a-68c7599745b0 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ed614892-164b-466d-b654-6aa555a8063e phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a651ee08-1764-4f35-9977-481a2a7d2b07 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e9f53017-6c9d-4e9d-95f7-9bc3534e69b6 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:5cf19899-5767-4753-ae26-64cf168cda20 phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:28bdfce4-3f70-4c8a-9a29-bcf17a63de62 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:875a6947-8a7c-4cf8-992f-77f44ed06564 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4706f66b-e82d-4409-be05-faa46a4039cc phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:67fb7131-3ffb-414d-9723-fef497fe0336 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:bd2f1ffe-e3e2-40ae-8fd2-0274010fdcef phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b21e1794-5823-43c2-a599-ad372bdca68a phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ab6b16bd-c249-4c7f-b840-fa22b49972f5 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:0fede630-6744-433e-8985-be17991b8516 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:689ef06a-018f-49ca-8bf7-ed36fc92b321 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:3c0d3d63-0e6b-464d-9315-eb9788e9d099 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c8ec0958-1f5c-4fe4-83f1-693937664423 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:7548ee47-db2e-4e30-8cc0-2bb22bf1396d phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:fe6edd5c-c621-486c-9fd2-7260e4c23395 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:81a43862-f8da-40ae-a89e-113aafa77db7 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f741cd01-21f8-4d8a-a783-1dbd0d410bc8 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c69c22f0-5695-4aff-a277-8271ed55df1c phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a74d0212-6c21-4e61-8231-29faa97d07fc phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e8af7ec8-6beb-4f3c-b88d-f25e607781b2 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dd7fea4d-5c17-400e-b8ca-1eae17ea7d7c phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c0d0a66e-f3ab-43d9-b169-8aeefc9a2642 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9244c1f9-a8b6-4d01-be8b-e65c92cb5e4e phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d162da68-9a3e-4a74-884f-1de90b529130 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4532331b-f4a8-4106-9e6b-21ff400ec886 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ce415634-da39-459e-8e32-b18fbfb50916 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b4a5aec4-de37-4bb4-81df-d507edc9143a phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cc380c1b-81ed-41ce-9341-aceb463d9807 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:777dceb9-f1b6-48c8-98c7-1a2e9eef62c7 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:6f96d9bb-b5c7-4987-b268-ae42e839aab4 phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:27fc5284-ae7b-4e2f-b0c8-99af4baf486d phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30152016 uuid:ea13986f-9c1f-451a-9a60-8624d0fa5d09 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d37fcbbf-2c4d-40b2-bbfb-d36061cbb383 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:09d84aee-ed4f-42b7-b7c7-3b843dd3f89a phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ed877dc0-8f52-47b5-b866-bae8235a35f7 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:f74bf2dd-4bc1-4ea5-8f64-17fb86541c13 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ef028769-9ef2-487f-8d77-a3c3d7282d87 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:11d95b09-3453-44ce-848b-950f68d3a013 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:23bf6fc9-d9c5-42c2-b49b-b6385886944b phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a2ce9de9-3f0c-4aa9-a8c9-f836c4983aaf phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc8ba827-fb96-4270-90dc-af06d56b9d38 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:448e3550-6a11-42e5-8e49-d040a3604951 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1e6023af-39cf-4a1a-b373-b28bc112ef58 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ca4e1764-d777-49ad-a863-eb96d589338d phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7282548d-5469-496f-8ca4-a60cda81b3c6 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cad44dae-fa7b-48d5-88fb-82ef0f91ab46 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:418a0751-0ed0-4e32-8939-8d2c927e3fd3 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3eee77ef-987f-4b24-9350-f73fc2a09228 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f3b29754-8b7d-41ed-83da-5902661f2fac phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1f108c19-c44b-47f8-ae1f-278a537b046a phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c4400c0a-7915-4463-b59e-91d7fe8d81c7 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:01b48763-87a7-4ae8-a2ca-c737e74f444d phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ee9845f9-9f44-48d4-8156-fddfac32463a phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:05eacd22-e668-4811-b8a9-41b5ac5dafd4 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f4d803c4-8f8b-49ce-b928-9cd97d579483 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a4e49925-df17-477e-9415-813c149b1f25 phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:30152016 uuid:b1c740e0-77b9-4a89-bb2e-07e22e7093ce phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:c78b33f7-f7a1-46c1-8935-7dc21aa2e2d5 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:34950897 uuid:ad2ae33b-cb94-47c6-aa78-798222cb682e phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:ba85fe8d-57d3-48c6-881d-601d239e4e48 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:fad83099-f900-4b54-8cf5-b59e2aa1a8b3 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:164cab42-3625-41fd-863e-1f2811efb498 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:07a30e3c-55bb-4236-b0a2-1e77ed11fc2e phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:147b76fb-d04f-4370-9103-4fe005851912 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:ebcf9f63-156a-4327-b4bc-ae95ce713553 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ff16a420-ae4f-413e-a0ae-b3904dd80752 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:d19ddfd3-c7ed-4fb7-a78a-791d61d3a82f phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:1cd53156-d793-4bb7-8756-612a56b69042 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2ecc98be-2259-428f-bea8-cb322a5e7661 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:5e7b9add-5173-4612-af2b-94d5a089eee8 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8cdcce55-59e7-471c-9ae9-511a64736984 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8ef27348-4584-408f-9c0c-64c663eba13d phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:5055af04-761d-4972-979d-6d4b9850467b phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ba3f572e-559f-4787-b946-31a90015d9ed phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e53c146c-f6d2-4f39-aa11-759e6c873f54 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7f43c3bd-9b97-42a8-9786-0f3b948956a4 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9257e528-5f4e-47ee-8496-381d4aa438bf phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:f7321b66-db35-4c32-ac6f-c5d21f1dd997 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4e55b804-ec35-4a7f-a66d-8bdaca3387cb phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9e2cdb39-4c76-4321-af07-e8126efa1453 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ac272589-f67d-4eb6-8891-f1f38cf70c22 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ced4e413-a522-4e06-a7ba-2c8bc527b361 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7a92f480-f213-460b-aa54-e913ca1f9fea phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:157f8323-df87-4607-90bc-13c145419364 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:46bce8a4-f418-41e2-853e-9b7ea5d8bb92 phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:a31d4a23-77be-4d06-ba23-d0c1e88fc50d phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:bca96f20-61e3-4a79-b4f3-aa68f778a613 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29696776 uuid:6bcc7d50-9a39-48f3-ace8-ab2f2a4a1c25 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:18381927-9794-40e5-9148-2a4461df51fa phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d07702e0-9b92-4cdb-b5ba-6fbba56e8798 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d93df4a5-dd0e-4e5d-a7e4-c30ebf1dfe4a phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:5e581f8d-bbf3-44ef-89cd-d1bd2d767ca0 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:a448e427-c5a6-4c2b-9571-31979f98f87f phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b5ee9125-a7d8-4642-b5e1-e7ade1bc31c1 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:df25830f-7456-4cf9-8cfb-2693c730dfda phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:00f9e6aa-2da9-4e58-a76d-7699d8fd2a14 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:e4ebc800-7c22-47c1-a3ac-40d3be2f5b73 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:414248aa-e2ec-4a0f-a7c3-6b5352878763 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:972cd750-02da-4041-be0f-79713e4b2921 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3cb6fa0a-cfac-4ece-99a5-db260bf16d0c phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:1b25a6a9-7a13-40b3-aee6-842111c4cfdb phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d76c233f-6bcf-423d-a9d4-6ad62aa4d36f phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f051bbfe-bbf2-4794-9030-ef300cca3a64 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d53ca120-6103-48be-84fd-dfc995048a06 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d97e533f-0dec-4982-85b1-3bef29bc0dc6 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8be3e854-7532-4896-a8ac-42ecf432a662 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4a8fb0ed-deab-44fe-abc6-ca56799f09ff phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:faa97eb5-59ef-4a9c-a33a-ea61a9a4f238 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:13a82526-e0e9-4a2f-89bd-77ad34ca73b7 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3b27c3c3-2bcd-4751-9c95-31e1173d8f0c phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d365176d-bb08-4429-aa8b-caaebe8f14ba phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7bb09dcf-fa33-4a42-a59b-788c7662ee30 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9810a1df-c0a9-4c17-aadf-ca8c8b2b28aa phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cf85f184-3469-461a-8602-dda148e22753 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:922df154-bab5-4b1b-b03e-141de0ad0c52 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:b6eca97c-0c7e-493f-ac67-1a0e0b4aa1d8 phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d2729d00-9d50-467d-8410-6df426a8ed29 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29696776 uuid:1a190802-2e6f-4f23-a569-68f7b6343238 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:10a35303-dd41-46bf-a302-44a67f8d84e8 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d9c1b982-38dc-44ff-aa57-db02f9f0b3fe phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:236df463-01b5-4dae-88dd-fa7505c7a84a phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:117cd9b9-4f76-4f86-b9ec-12b7c4278b01 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:40614532-26ae-439d-ae71-f1b5f2bcafa7 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:db4f0eaa-f83e-4748-851b-64d08506d268 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d7aaed2e-dff3-4842-bd67-036623942604 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b4c6eb36-82cc-4177-91b8-ffdd63030af6 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3ed34427-0348-464c-b16b-1d4440397cab phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d47fc4e7-ddb5-491f-b865-a1231a3d5522 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4326d4f6-39c6-440d-829a-deff28c88a89 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:443f72d5-bd10-47e1-bf85-0333dbe57e62 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d4e24650-78e3-4048-b4dd-0bd38e6b9078 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:070a2bea-4081-464c-ac3c-b41ace81cc88 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8faa8391-335d-4249-9638-79f97cfc5c61 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:992dbcdd-d3eb-4e6e-b5d4-27259b262eb7 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e59becfd-a29e-4c3d-903e-3f8ed2e16fa7 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7b82d731-20e3-4acd-ad6a-aaef607062ae phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9ee9ba45-c464-4b94-b8e6-5be138350ab7 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0e78221c-f5e7-49fb-aeec-8e9e58bfc380 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:04aab42f-2023-492c-bc35-16a1fa6b78ae phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0beb787b-9483-403c-805f-0d5aac83b103 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2656eb51-d5ce-45d1-879a-90d6fd6eedc5 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b3609056-ee01-4d31-ab97-51cb9bf36217 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3f2afb5a-b055-49cb-984b-18943646515e phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8a991472-b5e4-4d03-8bd0-5afc1d21aee3 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9b6a819b-ad58-48ec-8b3f-9ad6ac38e9cf phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:0482dc54-850e-426c-ab91-3aa5ed314d30 phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:f2bb9a4d-ff06-43c9-9f0e-113ff1ac602f phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:fba33c6f-b2ae-4d2a-81a4-2ca96d1bd23f phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:6bebf705-aefc-4fa2-ba8e-138c1754d415 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:c95d6bb1-e85a-4e3e-a407-b21e3f1574e8 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:adefa23c-62d8-4880-8249-42bba4584792 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36157999 uuid:d143a291-9f1a-41fd-a18b-1c7f4c38af38 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:bca6ae89-01b6-44f9-ad4d-717e89b00fd5 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:28186cae-e567-47bd-89e0-3298b242b108 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:85758dcd-9a4a-49c8-ab7a-6e34af8a8f5a phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:116258e7-8006-4f5a-8f14-bbdd92846250 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:031a3caa-542e-4819-9ff9-c9bf560d6445 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:ccab354a-bbc7-4793-a934-e1b5b401e781 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:54053c99-c91e-4fb0-99f0-75ddf8d5ed53 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:8a55db01-a671-45f6-8120-5edb526e806b phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:4963d23b-8fcf-444b-ae91-aa102163d008 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:534d882b-ca47-45c0-a723-508fbdeef18f phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:16dff6b9-4965-48ca-954b-2a730359a1aa phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:ccc77438-19ba-47f2-8c4e-b6a238741f58 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:4de520b0-8cf6-416a-96bf-dcb82e65c092 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:3af85310-bc05-4fa1-aa8c-d98a227a600b phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:a518e996-c06e-474f-a0b2-913deadaf438 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:d71f3d57-78cb-4743-9dc2-c17b4deef79e phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36157999 uuid:0fa17db3-6555-465f-a6ba-651ca6047329 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36157999 uuid:bdc5ce92-0fd2-41d2-b9cb-c04e05a75268 phenopacket.store:AHDC1.PMID_36157999_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36157999 uuid:9a7f93d5-ea5d-4472-83e7-93a9a74c19c0 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:34073322 uuid:33a2935c-d198-4889-9562-5cf56e0a4880 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:34073322 uuid:0ad320f5-cf66-42cb-b47b-e09577b5531d phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:1ef17efb-174e-4193-ba76-0d32b09be089 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:90e7030f-3e23-4fee-b879-0753d268adf0 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:82291956-5bfa-4018-a74e-8982f6f41f23 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:59332ac9-8959-4083-a476-5c749fc8f466 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:885ebb09-f9f3-432e-8f7f-ca686cd4c964 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:773e2b43-9333-41f7-9515-a89b5d4c0605 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:bda358dd-dd80-4e86-aa11-ac8eafcfed6f phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:2ccaa0f3-64be-4aca-a651-dc83bf507a52 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:b7d0424a-8e68-4dbd-b64b-8ed294dd4e46 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:560ebdc5-9e8c-4f49-b9ce-d388259b9218 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:dfbbb9e8-54b1-4728-b117-34472c705cab phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34073322 uuid:86ceb753-4e52-4da9-a46e-b8ca2d1c420c phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:d630b051-9b26-4c1b-bfb9-5b1d2bdb022f phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:1ae8c407-62aa-4ef1-a68c-60e5b0d76f27 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:d8de16dd-98aa-4448-8ab4-8e062ec98fb9 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:11dba75d-9f8f-4afa-aad5-e95c82d2d4dd phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:73a7eabf-f09c-4e4c-8592-3c13f8431e23 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:551e0701-6090-4875-9ce2-89490d54ed09 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:197a9986-1e2e-432e-a177-9ce6fe3bd312 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:21250869-ce6c-4852-8b66-5ca22b81d982 phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34073322 uuid:58da6cfd-643b-4158-9b02-3ad1767e6aad phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34073322 uuid:0214c27b-c47c-4d49-b21d-95b8373ebc2b phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34073322 uuid:cc415b20-e80a-48ed-9c0a-e6697bf4e9d6 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:1d1c22c8-1c97-4f32-8623-99b365841b9d phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:feae1fe8-959e-4d7e-8c85-146c9af558e9 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f40bdf72-66f8-4538-9ffb-0ca9456d780d phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:89202f3f-b6e1-4afd-9aec-4062380d4166 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:0ab42cd5-560a-4f06-b53a-705a98ee9e03 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:c26098fa-cd32-4ab2-8932-bd4a7d90f4b6 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:312cb8a3-c6d7-41d7-a860-01261bbd160a phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:22323277-4c8b-4608-8048-5ab7dcc0f88a phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:43225e44-54a4-42b8-98ac-5aa97845ae8e phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:4a33fc93-d9e1-4e96-aba6-99b0f8d256fe phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:b8685eea-c3eb-4321-8232-db31b2df6755 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:099daacf-9998-4329-a1c9-550c3829cc6f phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2bc1ee1d-3c67-4721-ba7f-52b46c9c9eb9 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:bbf8c051-b31e-46a1-98b9-97e1a321e534 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:74bdbf6d-d725-4167-ab40-dbe2863259e4 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f410a2e7-8603-4205-b4a5-6201437c0679 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:ca01670a-3fb8-4994-9825-606eaf20a862 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d0037649-f49e-4f2e-9ff5-f3433320f27d phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:a17086a1-717f-4fa5-8516-3f7b3630324a phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b9ebd27c-f8b0-47d1-8acb-b2a2e8f340f1 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:33270cf3-bd61-4e2b-9713-ee524f41ff24 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:99a86a3f-f074-4858-9373-7bfd3dbf4bc0 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:297e62f1-2fbb-4c9a-bb32-14130b1ad248 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:bedfe89a-216b-4c7f-819c-4ccf05f91261 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2e47ff29-5ca1-4755-8f23-fe33ada44aa3 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d61a1e48-4396-4a80-9996-d12709c133bc phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:3f4f94d2-2f48-4936-9918-d9e3a3409d09 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:77702b11-47ab-4691-b7fc-ff8f604e6aef phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c2100ffe-810b-4d4c-b921-e8b2f2e069e7 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:3462716f-c23e-4767-8c8a-830c76410547 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c59769ea-c8b5-4018-863f-84b9b92469b4 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:429b8c38-0086-4900-8c33-ad01384dc345 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:af372ef4-ca64-4699-8ace-4330c252f452 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:9ca99322-dca2-4f46-8ae1-d9fefe0b7951 phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:e57228c7-0f98-469c-9130-a8b3c8dc0de5 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:34950897 uuid:e3998ce5-4255-43eb-bdfa-66e2b57ff5b4 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:7258b0fb-372d-4baf-b08f-a1a1d69e98d3 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:23cbce8d-f343-4677-9a31-6414a0b0a144 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:079e37d3-5ba0-4e58-81b0-cb8b5cb2bb1a phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:338285f6-e6df-4d70-affd-0300a4953716 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:9ff653ed-89af-404c-9834-a1b4f8ebbf5c phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:6f651e37-3dc5-44d5-b3da-2d13e5fa7003 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:02177a9d-1481-4ca5-8b8c-0191a007eee6 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3bcb6226-015b-47ea-aa2a-3714000a83d0 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:eb276e21-27db-4b61-ab68-e1b00d16c9a2 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e60b7905-d944-4f2b-9c52-e20c120b3314 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:bd4de35a-1add-4746-8d3e-5b7df372d510 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e26211c1-c507-4586-969f-bf4adc005fd4 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:f5f84626-f7e5-4c35-9424-aab2bfdfffe5 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:229c85b2-1f2a-460f-9ec8-b19bee9e1d7a phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a1a44651-c72d-4b73-873d-e51d7496f76b phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:1504d44c-1f99-4be6-b468-1879a1867a78 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ca433958-1700-460b-b55a-97d13581697e phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:806147f3-2544-453f-99e9-ca1596205a1a phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8a0f99e9-a269-483f-89a9-fe4329b80057 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:142b8a99-3f47-41c3-9247-e7b37c1f4ccc phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:92d774c0-4cad-4cf9-8285-22502ab5af85 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2feb5684-08a7-4b1e-88ab-46a0ee001a6d phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3d874022-f426-4606-941a-52b5535c59fc phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9fc988b3-4523-4d14-bfb9-6c24cb11c60b phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:845551dd-9a3f-4fe2-944c-f6111ae82304 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:de3d0ceb-3e90-4100-a838-7c83b254e4f3 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8f382e88-1f7b-4d29-8972-801b84d6cf13 phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:a681033e-a971-4368-90c5-38ece1be252e phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:446e819d-4dd5-49c5-9f2a-9bcf8737e323 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ac37c66c-e300-457d-a825-cc9217d2b4d9 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:3c908842-e8b6-4e18-be4d-9512593c45d5 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:8774231d-fdc3-4e18-a9b7-149ccc60b63b phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:0b03654b-d3f1-4a84-9d0e-09d2585dc0db phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:8c2fe975-5bd3-448c-886e-c7aed8b44ab0 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:753fa88a-7aa1-4246-bb3b-4b28ad1e0f64 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:efd8b61d-a068-45d6-88bc-853aad641a96 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0011396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:854cd22a-5a71-4b8b-bf6a-05b48d0e0048 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:0c38d3a1-3955-43f0-be59-fb338bd97f34 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:7d9d49c8-6346-4e17-b0f6-94810e41c3e4 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:15c3ab6e-b2e2-48db-bee9-ebaea35f9e98 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c2bc6193-f99b-457c-8332-f38ddb8c2c75 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:b2ae9bb5-7fa8-412b-a44d-a44e147929e5 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d2a03840-67ba-42bc-92a0-03ec5bfeb011 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5b1c6251-4351-4c1a-90b0-727048dd2712 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9fe3a9fc-e71b-4895-91f7-8d411ace8c03 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:07c135e4-df1a-4d05-b49f-2fa07e62de48 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c88db51c-b4ce-4d86-8072-ca3cde986bb5 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:157fd616-75b1-4b1e-b692-89c03b650d59 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:585017f9-a9be-453f-ae0d-49ece0eb3df4 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1e4cffc4-f0c1-4ef2-b65a-0d32f0f2cd37 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f8725df8-8761-43a0-bc43-8e75698e7584 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ab1e4aff-d7e4-4e79-8db7-b0f16f0c8084 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:bc6b28b5-9913-48b6-b4d9-8a835c67eee1 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:733cd559-cabd-4d05-bfc9-f4fe0e89f2e8 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0450e3ad-2795-40f4-a408-d9bd7862a53d phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:6d86a169-fc2a-4210-bb35-d33802fe7b5e phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:56b4e4ed-1dd7-43ef-ad48-3bb43958b798 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:fa6f830e-f8d1-4794-9f7c-d4d2d3a7b1df phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9e900979-ec03-47f2-9f7f-c9e9be54d30a phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:93baf08d-fff6-40f1-a82a-6e6602dd2fbf phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:509cbcda-15ab-4091-b34f-f0b0350ed371 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0e95999c-1137-405a-8211-e844db6cd57d phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:4cbb9f2d-8490-442b-9443-5652072f7e58 phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:07c65e0a-ec72-4230-8107-421d301d73d7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17D infores:phenopacket-store PMID:30152016 uuid:3b2a7b0c-91e8-4b23-a933-16fd166dc086 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b6ae0bb3-b660-4f5f-90a8-fd4e015b6d68 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:24b03fe7-d1d5-40df-879c-8157d349c5a7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bc6da7b5-dad5-4ee0-9250-9d4dfb6e6820 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:624e41db-c9ad-40a3-bd42-b8623c31112e phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a1fb4519-b013-4aca-9002-639b8137a55a phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a20ad19c-d11a-4f59-a8c1-7a3030bf4e20 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:84a93e00-6cc0-492c-946f-bd2c6a10c333 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:6937efb5-4d9d-4211-9a8a-62c6a2737a2c phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:ed116d6c-4d48-4f00-8902-312aad262434 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b258955c-6e68-4810-b3cc-38710d69fdc0 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e53655bd-903b-4466-b16a-17f563c0257e phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fe6df62b-1c0c-4a19-a1d3-e6981deb2d21 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:4ec31a86-bb35-45c1-bdfe-3814dd3bb1e7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cb55f1e0-9440-4cce-86ac-9615b96d1780 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:74be77b7-a692-4388-b935-cc2dc238eb5c phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cfa363aa-c756-41a0-8fd0-9ab42214c347 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:f62347e8-435e-4ba2-8fea-1f548f27edbb phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:d8e25ccb-ec62-4c3d-8df3-c78b103ebee5 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2efa189a-d8fc-4d69-b76d-1a2eb95ec8db phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ff4f1647-5a78-4f5a-aca1-99c0fa8194c7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2703c1ac-a07a-4a7c-a749-3b8bfd95b4a1 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e9dc7d71-5c34-4868-8053-d2ff6d9c0c7e phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:37a444d6-57fb-4f94-bae7-d0c3d04dda0f phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:172bc6f9-ba48-4098-a064-57c2036a00b7 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f3cf3ba9-b1e1-442d-a9de-432565181d62 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6d02ceaa-6fef-4d7e-91be-3ce7fd968bc8 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2c37426b-0359-4af6-b12b-e1ed38fb836f phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:6f31509e-1088-4045-8711-95f2f33ae6c5 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30152016 uuid:ec604cc1-79f7-4e4f-9c7b-0773f6aeb973 phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:ee836287-b1bd-4e4c-b1aa-5515bb667adc phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:bbc87560-7ba2-475f-a87c-3ffcdb6da2af phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:6d40128c-d0aa-48b5-9c32-5c288cc6d04a phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:76956052-d1f4-414e-9a56-8e28d610da92 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:521b3342-5b26-4b63-a442-e7effb80c7f8 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:04af106a-3e10-48ea-a595-e924d8f9e43f phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:5ede35f9-63ac-4aa8-b853-822c81213dc7 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:fbca1f39-ec0a-46e1-a83d-cbf655285d91 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:bdd15549-7d57-42ae-b264-bff4d15038a4 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:4edeba53-39cc-495d-a3b2-1123043b1de8 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:c735e445-0d08-43fc-ab5a-0cfa4996f9ed phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f89ed64d-602e-4587-84ba-cc89dc120b57 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:d724f4a8-6ccc-49e0-825d-ba999d5dc4a0 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f31a3f1b-8031-49ee-87a2-e1350c9fee90 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:ca81aff3-12a3-440e-a998-b0dedbf1eac9 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:dc748686-00db-4e31-a697-3c276571a531 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:f08ac12e-10ed-4752-8cd0-bf935192f9ad phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:77518b06-69db-436a-9372-9827cba79913 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30729726 uuid:e6861d12-86e6-4417-848b-bcb0ad19ff39 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:f5545c33-d7aa-4b1c-ac84-e252673d08ad phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:1d842949-7a6f-4759-9085-cf862246eed4 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:e61e7427-142f-4fea-bae2-438a49980094 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:285553b7-069f-43f1-8117-b49e9bf7d3bd phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30729726 uuid:988ecd96-9174-42df-9c24-a2ab7cf03616 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:61932bef-bd92-4e79-9268-f49877acd747 phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30729726 uuid:a3b69b85-c3c7-49e7-a11f-00e60c22e3bf phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:09efbbfb-9c28-40c6-8f2f-575cdad50133 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c4c54a18-26ef-48d0-bb31-f9c61d6134bd phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:7f8eee13-0fb6-4e8f-a5c4-ae9b11f18328 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:5cb4c150-ca20-4041-b13c-05a1bd270922 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:714c6117-7c9b-4585-b1ff-f3889b21d6fe phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:95b813e0-3d12-40f1-ae06-e4dbf2c11564 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a3da86e6-0966-48ac-b31d-9475f293079b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:cf589ec5-65b8-435d-8a57-b4b091f0ac61 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:8502ddc9-3761-4057-85e2-8948296945be phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:92fe24f4-b5c7-4e91-8831-4656b7f42055 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:960e8097-5b68-40bb-8daf-18a7a9e9e8ff phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3d8b8f39-2694-4bb3-b72e-dc220f2682aa phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:24fce62d-aeac-4e62-9d2e-7561995215d8 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:3b0e9c31-8766-4099-b34a-897036cbc2dd phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000211 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:90abbfd0-49db-406f-a606-27e3bd2068ca phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:11031819-7209-4e03-9a48-8e72c8d83458 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c89a5fb0-2ebc-4825-9c90-1158b702f53c phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0005216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:8ac0b25f-6945-4e18-b30a-bbfa6871131b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c5000519-1318-4813-938e-24bf24736191 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:78060a90-5de1-4594-ae44-77e93c262774 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:c0d79006-19ce-484e-8162-9721ff464b6d phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:b4aa0a11-7f02-4543-915d-c60773b240a4 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:6095508b-de4c-4a0e-9dbe-14ef975b70d3 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:45e03c8d-fcdc-40a9-9f0d-232192fe5430 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:5ccef5e2-be0a-4660-a78a-280d44fd3f52 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:773a6e8e-7c80-44c3-9aed-89877076de7b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:08f587d3-56be-49ad-b4bd-c03f9352a70e phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24791903 uuid:a3fe864b-e49c-442b-8dce-73eb97b96b9c phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:02ce8616-1778-4dec-a670-d4edb4d27c31 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b04036cd-cd2b-4bb1-8092-141a6dbcbf01 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c9f94315-0971-4f39-96f2-f65d799777c0 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c22d88b2-067b-415f-b319-47f59858ec76 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a51a8e5c-1ef1-4379-b866-900108e8aad2 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:d434f958-9f33-419f-ac64-1c59d40cce84 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:c2d8617a-c92c-4516-ac83-76d90b6e363c phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:0326a79d-1929-454d-8054-fe2ec1db3930 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:642e6504-773b-46ff-a0f2-d3768542c779 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ea893e0e-f3ee-48b4-864f-c7efe2dc6a78 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:123f72ca-a5b7-4c87-9a8d-f332a7b2b7b3 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:dd399f76-443c-4277-83aa-43b452c37c30 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:17b19bf0-5d8e-4186-8d06-44f82211b9ab phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:57df7deb-eece-4e71-95a9-72cdaacc71a7 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:f228e8e9-b7d7-478a-848b-bf5b49c5e86b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:e2e0a42f-d8a4-4055-8176-6243179b06eb phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:7979fc63-5dbe-47c1-89c2-657f3e811061 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:1377b42e-50cf-46b0-8ad6-d22f6a25b5b4 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:82a290bf-b853-46b1-816f-56e3192a9324 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:2afb6868-a318-4c86-8e75-b5bd4600fccd phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a6f756e1-c117-4cda-ba83-9a9c824a4b01 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b1ad54fe-6125-4e5d-a527-735c90da4bcf phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:ca9a8e94-c6e8-4fff-9137-0bc0036f69b4 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:a618736d-6c8a-4a8d-b85d-fe75d9e3cf75 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b41150d2-06f9-4537-ad2e-b453d433279b phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:b487eb7b-7688-44b1-a044-64935f6c4ccf phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24791903 uuid:07772bf3-4ccb-49e9-80c6-4c84cd4a3b56 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:88c3b0f2-222f-4e55-9810-5f25baf15095 phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24791903 uuid:610c7988-5efe-455f-a002-d04056c45ee9 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:29696776 uuid:060fade2-6089-444f-9023-128c59d6a47b phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4d284a1f-62b9-4579-860e-c87b43725ffe phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:330d7793-b219-4947-a7f9-febc50deb2ae phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:0556a16e-af25-4fda-9828-b81fb8d4ed58 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9d1b6890-dbdd-44c6-9556-002f18914819 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4182601a-bba2-46ac-af65-8038e00f3083 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4ebf378f-1f4a-4361-919b-ebfc4fc503f2 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:7fae5dd8-bbe2-49e0-937d-37d729851652 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c7217df3-9c50-4559-ab81-8f8b796e8e28 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:545a4d42-e33c-4bb2-b978-294f12ffd4e3 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:cf59fc54-2ac4-4520-9ebe-01081a363716 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9e6c2a7b-e4d6-4e18-93d5-d4bdab8e68c0 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:eb8bc0ad-eb3a-4fb1-972d-330611ccccc8 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:37e4885c-a392-4148-9720-7b507ec9afaa phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:61bd9bb4-a941-4066-8422-f86b50feb407 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a7c17fdf-915b-4e33-a771-34eaed16f8b5 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e9cc2e25-59fe-4bd9-a2dc-f09631734a44 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:25025903-20ea-4f08-9a72-8bfaf668d782 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ee29b5d3-7d7a-44fb-b659-4c5b3a96f872 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a208f3f2-02ef-4c4c-a056-e3d7419da8e5 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:1d3fd441-ef88-4012-9b10-a4c499faaef2 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a5cae1dd-c695-4a4e-b34c-3a3f407ba276 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:32edd4f6-1b3e-49cc-8061-5ba37e605341 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5d8a9888-47bb-4b31-8a70-78c6edb0f874 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d65cdf95-063b-4538-b7f7-7e34ff9d5970 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:847114b5-f6ab-432b-a0c9-a0a5b9f41f18 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:31a137c2-1eb2-46de-a8de-2610bc3267a6 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:58064c7a-941b-49f4-b568-a6d9b95626b6 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:95d81029-2ffe-4d28-9f01-f087ca4231ba phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d331113f-65a3-4d98-8e6b-57c146eae132 phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:0393ec0d-a248-4771-8ebf-fb6267460576 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d51946ee-f876-43ed-8a25-859eeec009ee phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:3d6f3037-73d9-4619-a5e5-a21e3ccbb68b phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:cc00d8f0-1a64-49a2-b2e6-6199c0990128 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ba066dc3-4ec9-4ca4-bde1-8d76014beb40 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:6aa6c51c-aa60-42bc-8d9e-71d1693b6f65 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f748ac35-82ff-4670-be90-59953f4c450a phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:efc0dce9-9591-4c68-a17d-f30415ab0f89 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4296af64-92e5-43a0-9d62-c2dabd3e92f3 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ec4eac61-c0e1-4f0b-b226-ab1112c0b76d phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cdefa3e0-2dbe-4cf6-9f2e-248b198b4259 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:934a3cad-7120-4edc-934e-b6aec7923fb8 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dd8eab4c-4591-499c-809b-29a640f755e6 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4952659e-b6fa-4c22-8ffd-cc54cb436251 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c0da8dbb-dbb1-43c5-8c48-75c56ef60f17 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:1f490fdc-c9b5-4487-8f04-724f0b1f15c8 phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:5b900944-e62d-41e1-b349-21b7d2667004 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:de56f1ec-c96f-4d8d-9f39-f5ea6d3e1739 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:0ac8f552-9306-47cc-9f69-86694308e676 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:87f1b61f-e374-4775-9577-9bb25f50d949 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1390e739-ad90-4610-b285-febe3736bbde phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1d2a9ab5-76c5-4e87-ac5b-e408e53f1507 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:8d270430-8a52-4cc5-ae08-d681e1c50825 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b1cadeea-ac36-4d94-a052-cd0d5bbd5b3d phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ad191365-ceab-4c3b-a826-e718531aa9a0 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9e5b620b-ef9f-4178-9f94-f46cfac1f8e4 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:44594f50-d903-4477-a75e-3e4bd1778b48 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:babbafaf-b51c-4ec2-a188-c387f6317dcc phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:45f14e76-6417-423b-9a4d-27090e464c57 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c9ab25de-2b1c-4734-884e-ce910e949019 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e5c3f5dd-50db-4058-91a5-2471c11138a8 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5a3f55c0-fa42-4e56-a9aa-b37c1d7d24f4 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ffe90aff-1375-4929-86eb-dbb86d0fcc89 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c3e41a2e-5d7a-4df9-8131-e7b77b6edc3e phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6a70b6a8-eef9-46e8-8fbc-161a69deb082 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:54b29921-dd6d-4326-b416-64c4a43335a4 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f4f07668-524d-4f7f-8fc5-8dda17deec26 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4e49f192-8e5e-4fad-b14f-782d19bd8a68 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:829be5e9-f9a8-4b74-a703-7ec553fc2b9d phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:428ed7a7-a34d-401f-8196-8068905a0bf0 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:185bf79c-773b-44c4-82da-e79bcc769e06 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d5a2cdb0-be31-401f-9360-09b753e15757 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a37de0f2-0776-4e14-94e4-359450f86330 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5c73f14f-7269-4718-87d0-0368d85df0f9 phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:ca8f1dd7-07ac-4090-b5b5-fe4b30ff426b phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:a58ed7fc-9dd1-405a-aff1-4c1580eee627 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:952eb93b-f69e-47a1-9719-b7f3dc930b85 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:25b0d4de-6430-410b-ad58-94c59b336a6b phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:e08e1b96-5262-43c3-a604-c100b35649ad phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:7a663504-4c1e-4083-ab45-08d1e1576ebd phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:11e77215-6bbd-42ac-8fc4-4009af048a31 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9ed76495-9d27-4dd2-b565-ae6cfe4298ef phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c0567564-3f7c-45fb-9cc5-3a91fdeaf5f0 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:66179e0f-f419-40cd-bd09-52e4f79989e2 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:8135a5a9-d208-4515-ade5-6eba6bbc51e4 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:916c5437-f5a5-4b4b-beb6-0e55c26ce118 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f670e7f6-019a-444c-9de3-cc1eccf5d358 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2a691d11-dcd4-4ed7-bd86-73eb2e3ef6ae phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:76db0671-4d70-438f-9001-02756d4249f4 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2de33ebe-fff3-46f1-93a2-e6f4bb86b403 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f86228d8-ab43-4b93-9d3b-2e8c378793a4 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a8e738b2-b94d-424b-8810-1600aa718efb phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3fa0f71f-e8d0-47ab-89e4-b379223bf256 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:accf2ac4-ece6-43f9-9140-fc60333628f6 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d5d92b1c-ed72-47ad-8638-1e83a28af218 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8bab4c2a-9459-431a-b107-1f241532f650 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8377f94c-9ace-4548-b18d-e8baedaa24ac phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9de4f2a8-4393-4af3-ac1a-e1fc9cfd87b5 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:af996330-9dea-4fb1-b40f-a25113428d1e phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:ae2e219e-d3ba-4af3-9360-612d49cf805b phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6b6802c3-5fb5-486f-9fad-a44e7b64e8fb phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c9070e7d-0c00-44ae-887c-f61ba3803710 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cb31c749-b7da-4af6-bbe4-9fd5f41f13b2 phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a527e736-804d-4344-83bc-15ffb955d5bb phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:649e8b39-c94e-4fe8-87c3-709cae87d73a phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:61dd94e5-dc20-4e94-b1fa-5c7ea4b0a56f phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:8f635739-c996-4ec1-a838-d709b964ba85 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34950897 uuid:93b8c667-d189-464f-a109-0c99827d88b7 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:64c1b63b-d530-4896-8420-1b2a421c73b5 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:534864f5-6bfb-41b2-b2bf-4f938c2c0aa7 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:bf2b59c8-5726-4912-be73-5e3151de6afa phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b7bc570b-18c1-4eb8-beb5-7f9834555545 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:e5c7f600-b6fd-4734-8e1e-f28ef6532f45 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:fa700702-d146-46d5-a929-aaa6f5705eed phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c7ce4747-7fec-4a4e-a0a2-85e013244093 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a255a836-c19b-4155-be54-33c48d0d42ee phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e2b1fc63-4d6f-4795-b395-73bee5a56ade phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8f700b2d-499a-4040-9a7d-1c9485d6922b phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:81eb78aa-1aa4-4d05-b227-a8a4cc57689b phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:1c55fd6a-1261-46ab-a8b0-6c402140df48 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:d8a79414-1201-4a51-9c48-40e93c269f89 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:f6104c93-1e4f-4dd6-a5c3-ce8c4d9f0400 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0c569a44-9a2d-4a9d-a86b-5eed5aa3de93 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9aa28625-a921-4fe5-bdef-0689b5e0df87 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:03ee12c8-c2fd-4cf7-9dbf-6fca9fa214c4 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:fc150b2d-ba26-4610-a89c-a5175d79801d phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:fc412785-4fb2-4dae-86dc-4a55cb58ccf4 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:31888026-7885-4164-aef9-b45c437ed355 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0270c5d9-72e9-4f60-923a-7673894a5bc3 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7394955f-6eb8-4930-ab4e-6683e62638c5 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ffbbcac9-a7a9-42c3-b480-918becf653a1 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:50416da3-bc14-4f99-9222-3a8826e1b309 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:af42d285-1c7e-4a82-9ed4-8556869336ea phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9efe83b8-39b3-43e8-a29a-4482d8df81fc phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2d7034b9-7d7a-4055-aae2-dfc5d1553a16 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3691b291-fcdf-4faf-93c3-a2dc8aa87336 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:ce3f61c0-2b0e-463e-901b-f5030f84b2f0 phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:83095782-102f-4819-9459-2beb9e458bb2 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4d43c521-dbac-4f5b-8ca8-dcdde3462370 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:614b0b90-2429-483d-bd73-eec1a58473e3 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:05f377a5-be79-4147-932a-4553db204be7 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:ec04facc-9ecf-48fc-bc5a-bc26407a808f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:159b1afd-49e4-4be1-8214-950c940207c3 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:daa48514-bf5d-46ac-ab62-507ea24784b8 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:4db8045f-c098-4698-addb-2924d9530978 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3e113499-d9d7-42b2-8c56-6d093df70928 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:3bd6b537-1a8f-4447-aacc-6f8aa9093657 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:e05b8ec1-b9e3-4849-93c4-3b7a7c61cacd phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:39d2e70a-be8a-48eb-9b60-4459ebeff4c3 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d78b5114-d57e-477c-9436-c5856f32499d phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:90f83064-e928-4373-8fe0-3167d6904c2d phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:dead029e-192e-4d39-a0e6-2752478c0d6a phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:97bd944f-165b-47d5-a813-16bd167941f4 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:6ae0b05f-7db4-4687-b251-b5b2a5bcd8cd phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:8beea50f-0b09-479e-bca2-e5e84cee3597 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:1703d433-1f56-4452-b041-343ceffe83fe phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:fd3cea18-359c-46c1-b96c-e7a8a0aadd87 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34229113 uuid:d63410b2-cfc7-4349-b7eb-0747afe4ade9 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:f071b852-222f-43fa-908a-3bc952ae9038 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d8f8fc62-26ed-4fe3-9ccc-ebfbc0f49ae9 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:96e4041f-04cb-46c0-8626-969e2bff3f86 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:cb0cfa8a-a4d4-4a0d-a534-8576b744c8ca phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:6ed05aa5-1436-48b8-a4eb-16525c4e3293 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:9d479be8-b144-49fc-918f-ae447dfc853f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:44eba163-b421-4b66-a779-4b03c119b651 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2f8e5829-cf0d-4928-8dd8-74c571965513 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8f57f925-2dd6-4de1-ad72-2dfc53b787d1 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:09501657-c46f-4104-a615-c5f647064d82 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:35c22774-a01e-4a55-b2ec-85fb6974d4d8 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:5d4e867b-afc2-4458-b1ef-19972255b249 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:32eabbb7-0bb8-47c1-8518-6aaec8830e31 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:f1c4c49f-d6bd-4e2b-b44c-ea99371e55d0 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:cfb71cd6-bbf3-4684-88de-c0b2d20181dd phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:8953c698-732d-4024-a0b3-709000783970 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:214bcf80-1e43-4122-b5ed-301ba2758f41 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:d30cf55a-7002-4565-bbc7-a569d518a58f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2befcd7e-a9ad-48e8-8e7b-845cff4e709f phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:633dca24-ccdd-482f-a293-305ef331a2fe phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:2e96b45f-e0a7-4aae-9f1e-6c998af61d66 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:b04589d4-aa0f-4f1e-bcf4-710fa8c15f10 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34229113 uuid:06e7e360-e11c-4f22-91f2-5dbf01fb6da7 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P6D infores:phenopacket-store PMID:34229113 uuid:e151fb6b-4d5e-4374-ad53-4bbab6574df0 phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34229113 uuid:2b63e5b7-b6b9-4faf-a8bc-bb832ce96eba phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:1116d157-271c-4fc9-8d2f-3532e1f8248a phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:3f55237d-2ef8-4339-ad95-68d8e6060e0b phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:ead7bf29-86fc-49ef-b5a6-d73fe6d535af phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:5ac21854-e0bb-4e0a-b97a-8df54ca811db phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:601dd181-ff34-4018-a185-31816fbffe82 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:ab98b0c3-e538-4a2f-a326-2dc292de5faa phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:c35b3260-a0f1-4b41-8a69-902d29b63210 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:40bd59a2-2908-41b4-bb78-5f08ffe98e4d phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:323e7ffa-979b-40c4-91c7-0eafd6d96843 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:20527e5d-841b-4818-9239-74e32e14758f phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:ae02df64-092c-46a6-bdb8-a87b974c9100 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:38dc541b-2fbf-4e6b-b511-68196115d2ef phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0012418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:61ac113e-7a0a-402f-9306-5ce172bf4d47 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:04ae0d6b-c416-4ded-b5b7-23b502f69bca phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:52778d77-2fdd-4d05-845a-09ed0538cde3 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0025335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:05a88c0d-a460-4b83-880a-2606d1749670 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:2aa64f69-3e79-4393-a665-e9866813571e phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:e33b7e0b-c0a2-459d-b2b8-00beba56ce12 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0007112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230160 uuid:c6bbcc2a-90c3-4fb3-9842-98444aa39c62 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:40723ecb-f09b-4bb2-bcc2-294d0902439c phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:2860dee8-dbb0-4423-bb06-4798df8aac07 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:cf5a4d5c-200d-418e-8291-f7e23704fd19 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:021a4fba-b072-4a16-83f1-f3e472acbb04 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:a2a390aa-38b5-4a88-98d0-d5475a659697 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:d7bb9c61-c046-4059-91d7-d26c249584a0 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:06cdd294-93e7-4d63-a87f-80b616d3c98e phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:89e6e4ca-aa59-4f4d-a034-19693bc7e5a1 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:22041034-f5a7-4796-931f-b3f8bb758fea phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:01bbb976-39d0-41b6-8e40-7dc9166df149 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:d0df76e4-5d95-41b1-894c-86274d2573c3 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230160 uuid:fec2a81b-f831-4b0f-bf5a-e39133dd470a phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29230160 uuid:a50ffce5-7e45-4856-be7e-fe6d28831945 phenopacket.store:AHDC1.PMID_29230160_case_report biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29230160 uuid:0f0e5c92-6046-4696-942b-7a6f047403f8 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:64eb3e3d-aed6-4cee-8c58-13196149b036 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:4a161680-6ada-44f8-ae3a-428bcfb80f95 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:50b5e155-7554-40eb-98b2-922bcf06fd3a phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:865396b0-231a-4dec-945c-9698ad58f521 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:2fb6bd5b-e59e-4514-8d66-99d1b0aac593 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b19393c8-d9a8-4950-9e36-1f8fb9ed37bf phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:5562038d-5bbc-453e-a602-63265933bb3f phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:78ee7599-28eb-434f-8f59-0a4daaa8d08a phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a18de18c-0daa-42d3-8d38-74af5beccbbc phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:175f7150-a0dd-45c4-8c8b-8f79bc8efc9d phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:1f644e24-513d-4dbb-8417-e54d667ede32 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c635f1d2-bac2-4267-b069-8388437a55e9 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0ccf9851-56ac-4a26-a46c-1a6e4c381c69 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:d8172f37-f423-4e01-82ff-091b42912030 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:8878df50-7e55-45e2-aad1-ffb1700610da phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7183a42a-a8a5-4f6b-85a8-aa55976112a8 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:96ca2d6d-8f1b-4b48-8f8a-56bbc32691e9 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c8e47bd3-7952-4aa9-a846-39882c6d17bb phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:88edad9a-cee0-4734-8086-99d5b9e7814b phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:3e28a741-1dd6-4522-824b-a86e42060cfa phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0973d99b-fe49-4e23-806a-f465cec69780 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:cac384d7-ccc7-4754-910a-4ce8996a0c3a phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:fb5e782b-d38e-490e-ac2e-5dcce086454d phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:67ba4a79-a059-45db-bdc2-09a7d4bdd6e3 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:67a46b5b-6568-4b39-963e-acac35a97889 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4fc3e181-c7ae-4475-a2af-7516dce2dd87 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9b9dce9c-b33c-49fd-b143-47835fcb8877 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:33958f67-ca5c-4161-b597-57c619e45def phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:ee9d9100-afb9-4992-8bbe-8397b9c338e1 phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:b8cee5f5-05c7-46db-83d2-0c8435a242ad phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:80c293f1-35bf-40b2-a355-5aa02332d0fe phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:b7aa85cb-d65c-44f8-8ebe-e9f843b1366c phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e7ac235d-5b3b-467f-a1e0-a2178794ed79 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d5e28a31-8f4e-4826-91bd-bfb9dcd3448e phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5bc05719-0f4e-4197-8ef3-e93352144a62 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:c395f03e-729b-4c64-a7ff-6597087291a5 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:2b1f7283-02f9-40a9-9bc4-b81fc1677663 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:e9c8f5ab-f7c6-4b5e-b35d-d8676a29c787 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:3aba4af7-783f-41fe-936b-1b9a6360a632 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:9554b63b-81b4-4c46-b1f8-96793b64d0e0 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:6ac687b9-4115-4e2a-b25d-5f69b01a0c1a phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3d29af19-89bd-448a-927a-b4689bf5b8f6 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1021e30f-a4f9-4493-bee0-e73e8cbec900 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5ee8a19c-e028-4a62-b7a5-3b2090f08fbf phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:0fa7747b-530f-43e3-97d2-110afd47db0d phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8d92df67-9845-4dd7-9f64-fffb73f9a9f5 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9d758d12-12cc-4d4c-9edb-f914b2a3ee91 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:f97a6e29-396b-4a8e-9703-e645e39b62ce phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:61e8abee-7d9d-47f1-bdd5-d6ea6531b247 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:522c663b-ba2a-4695-9a37-05a581b0db68 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ff750458-cb07-4b1c-afac-ffe4d84993db phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:061465e8-ecaf-4c29-8a3f-780507a1b435 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ba054f50-7c27-409d-a4ca-091664489ba0 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:770000de-0921-4316-beb7-37e570c51c8a phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3e47e816-d27c-493a-b409-240f6faed84a phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:5090bd44-b4de-41d9-a82d-1154ef512b5c phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:e2c26683-0b37-4d3c-a988-6763f58edafe phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d15b032e-75f9-426c-843a-52ddbc7bf1a8 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:81b59e2d-cb80-4ab6-aa54-e9b01ebb1e86 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:26353c61-6f36-4d39-9a74-8c597ad3fdea phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:3f95c5a2-48c0-4c89-870b-153634afa833 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:8d2ce752-f20d-4461-84cf-6f8f4157ac37 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:35705bfe-9499-49a8-8aec-442f8852b6d6 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:b3834ebd-d3a5-4c07-844c-37aa8a9bb798 phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:e29df9cc-d48a-411f-b7ec-e13520773ccd phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:3c511ecf-54e8-4b9e-bb98-920e2c089015 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:5b49b103-14bd-45eb-bc04-7716dee5c712 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:42be8984-6bc0-4220-92a6-5e7e4b1288ac phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c35d4f58-4cfc-4f69-b844-d97a5ff80bad phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:cf6b49dd-07c9-48ee-85d7-30b5781ad35f phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4916f68a-0283-4cff-a12c-d4140f3c839a phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:31120fcc-0b65-442e-959a-ab2b0e3883e8 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:5f6a2eb7-aa96-443c-822a-c6af599298b4 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:217798d8-074a-4be6-a931-13518c282117 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:110655a8-048f-4eb0-8031-5a7b0bcadd76 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:43c9bac6-2088-430c-bc9b-dfba19a1fe77 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4b2324a0-2cff-40b1-ba82-3f0e61b79c12 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:36b5a588-dda3-4648-b063-ff411b112c8f phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:bcbb8d3b-2285-458a-9dd6-c27c6b09e9b7 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:19cafd65-fd4a-4deb-b1f5-8db3b3bfcfde phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0646b573-2cce-4e14-bfa1-12606fc213a1 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:75fd2206-666f-4e5e-9015-597aed446a75 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a8949959-feff-4661-868e-b7c9e3e788c7 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e6b06372-d1e4-44b7-8760-b18411710d99 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:96f5b3bd-0ff7-4cb2-aa31-e4f2a4f7f4d9 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:f91bdc8a-8cdb-48f6-902b-e563c473039d phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:07313ad2-0bfa-4746-b65b-e5ef2ec3a5d9 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:0198b980-5c2e-4770-bd4a-e556d0bbb8cf phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4d7ffc19-7909-4c54-9b11-17727f8263bc phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:843efdc7-2834-4af3-8559-068625229780 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ed998275-8840-43b7-9841-a5339fc155b3 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:d72773b6-d1c5-44ed-ac09-1273a6466b7f phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a2f63427-ab65-4c3f-8a84-b581d9e77cc5 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:b4ba5acb-7c14-4608-8293-632c363c3d97 phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:70e17f24-0bad-4a24-abe7-90640b1c505c phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:85c8e61b-5f88-4364-af40-f211eba89627 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d106ae76-aa1d-4365-9cbc-72609d5b7223 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:dac88793-d499-4fe6-93e7-eb32ca5e6d71 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:833d41d8-7356-4d2c-bf32-ba0671af2614 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:21ea7d28-6a6f-4abb-8c74-f1df8cbd05da phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:04fedf7d-4711-4faa-9289-1ec41aef6927 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c060eddb-930d-48cc-b68b-c3a5fcc27a27 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:194625e6-0c47-4d41-9854-4f7cb9fb4a36 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7aab237f-50b6-40ad-be56-c8880d4c4a58 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5af4ac52-2fcf-4ee1-a529-f5b46a1fcbe8 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:32bea1f6-47f0-45e3-a3fb-b6ba9553e125 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:dd6e3471-35d9-4c79-a6e2-a4af446cccf9 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7d20bba0-95a2-402b-a5c7-3b4bea903b76 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:58e844db-5367-472f-8f67-7243c89e4f35 phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:b1121caa-c869-401e-8510-cc0b3d49c933 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:52ff0d7e-fdc4-44cd-85f9-37b51e26d0fd phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:98a650d0-ec98-44d6-a66f-a72dbd8fd634 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ec97b5ab-cd45-4a58-ba84-f5046ed7e9f9 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:c3bd2717-c9f0-4081-8db1-0cfddace819c phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:898fc18c-2e54-4d19-8db1-229d3f5b3a8e phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d2af09cb-7269-43fb-80b5-5b9ff97a6d5f phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4eb34c5a-c4c1-4e39-be5f-e92b5e4bb7a6 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:96d44250-1b8f-41a3-b645-4e977e9f003b phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:095d7d28-0053-4d4c-828d-e1b4f2e80ef2 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:fb0e75ca-eb2c-4ace-85ee-ba488627e52b phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:d604b38c-d1fb-4ad6-85af-fe5d8ed497f7 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:39d51c9c-b84c-40aa-b989-27b916c7ffe5 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4fa05f67-d039-45fd-8b8c-fc3d7fadfa71 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b20d8427-4a59-468d-a42e-1f33661731ce phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:91317551-488d-4a5e-8b22-43ff13570586 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:efecb509-2151-43c5-982f-ef4065c46ea9 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c2774556-62c6-409b-9c6a-29e47f9a6cad phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:524bacbf-7db9-4d62-8061-ea6e3a5821ca phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:fab3f17f-8f10-413e-955b-cd48e640d421 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:958d6144-e0f2-4c89-9a2e-8cb673495a65 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:61d763ef-26da-45d6-9ea9-ea55f953759f phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6c1e8338-9e85-4e4f-92e7-4fce9865f2d1 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:811ddaf4-575d-4dbc-bbe1-4a763262a37d phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cd2ebd36-44d7-4734-b52d-331f1fc03b6f phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:bbf87547-75e4-4e5c-a980-e4e4ebe04504 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:211cff9b-dfc6-4f9b-a11d-d390e5b93d70 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a7f2c03c-ce82-4d59-ba88-e91a459c08f4 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a90aefcd-c3ff-4888-9b5d-01e8e1c80d4b phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:1ab5790e-0c36-414e-8b84-d91383372aa2 phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:55943285-2cad-440c-8a0e-ab32a3f9b208 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:34950897 uuid:2da70eec-5647-41ca-a3c0-bd8e58859ec5 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:63395dfa-f764-4764-aa10-0da5280359ce phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:f2f984f5-96b1-4150-899c-de086e639e00 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b219fee1-5dc2-4893-8986-0c94719fe734 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:b635ce01-457a-43b9-a826-b54a1a558f19 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:4f82e9ce-6255-44b6-8737-3804feed582c phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:4fbf3a76-37d5-4d48-83b7-85260fe85119 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:2c9351ad-40b9-43bf-b42d-c3f2a3f0b409 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:7ed33d1f-2d05-4e7b-90b8-cc3724981abf phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:9528f90d-ce43-459c-a601-b9b3f0b9a4af phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:14db888b-8fb9-415a-8ae8-2bc18d152c8d phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:af366984-73fc-4595-bf08-cefeb16f03c7 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:70055e46-5efb-466c-954d-69cddfdc3f2c phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:a04cefd5-70aa-43de-b51a-fa657a7ef52d phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c35ef17d-3a5e-47c8-9207-3a18cc0220f3 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:e5aeed8a-a630-407e-8ad0-7df05098a1ae phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:41745ca6-f778-4da7-98bc-a89ec58bea40 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:12c9b7ee-bfe4-4cc0-88f9-91620574a46a phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:30617975-bbe8-4e8d-a09f-00cae1a84822 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:fcc55099-a015-4982-a85f-219eb4a69ea3 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:158b870d-95fb-4978-84ff-7fb409ce91d3 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ccfaa101-6ed4-4a98-bae5-440bf569826e phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:10270085-3f4a-4746-a549-dfdd33277c78 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:33a02780-10a0-4889-951c-2745d0ac9f8e phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:c49354f0-4aef-4a1f-b4c7-76f81a7876e2 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:75a3a841-8647-48c8-bb70-619b4b2b4a9f phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:97198af6-78e8-417c-8302-133e5c5a96a2 phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:5b677118-ee97-41bd-b6f6-c4d34a3f8c53 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:bd53b828-59ad-441a-9b4f-be9ad391d00b phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:87f083ed-a630-40e0-ab16-c104c14d60f3 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:939c424a-8c10-4bb4-b1b7-b715c8ae6ea2 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:72a4a1fd-f094-463e-a313-59ffccf61f17 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:20927731-7c39-44d6-bcde-e51724510432 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1574eb98-9250-4921-831c-265b6656e63d phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:1bb6d57e-d3f3-4b63-bc80-28cdd55de66d phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:0beea377-8708-407b-8987-a4ce62f59597 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9c80ab71-4cac-4d9a-bc1b-de4ae3ab3b15 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5b20a9de-7bb1-44ce-8b1a-9babc3fa8f4e phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:896a531a-5e9a-4986-bf5c-cf8fea8c5fa8 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:43aacf52-841d-4cd7-a5bc-2cbda5f853a6 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8b8d1d7a-5ab3-4e57-ba6c-44ed2936b009 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:21b50209-1abc-478f-8f6a-d69cb0d317c0 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:cde63b1c-d458-4ccd-91a0-f6acc0c9ab80 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:bf8c52c5-eae4-43e7-8f88-921bb77ae426 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:df884c43-f440-4292-b47e-d58a982cdb35 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:293124cf-9552-4eb6-bd8f-87697fc6116b phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:8947a298-0686-47ce-ae3b-5f2bf3a5b173 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6b4a80fa-2ac8-4e00-b2a0-078ca78f6dae phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:46f1cd92-2b65-49a9-8088-28ff436c4f9c phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:5043bf3d-976b-42c3-9aa7-876def32df1a phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:6185c4d5-9bd8-4fcb-b354-665a8a4e931c phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:7b74e348-5d01-4954-984d-f350583a9aa2 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:806bbdbf-4967-48f2-931c-62c2c673420e phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:e6f196b2-6b5c-4a0d-87ef-b36cf7451571 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:d880fd6f-a099-4a65-9956-d17efb613544 phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:573bfbce-6a11-42f4-a76c-e70adfb2047c phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:2a43e70f-b644-4835-b5ad-74b794a6b3fb phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:33372375 uuid:87bdf65a-0f1d-43d2-b36b-81840d4374d1 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:33372375 uuid:ff7db09a-6f2a-4bbf-a632-647bb365aa36 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:ce55afde-266e-409b-81d6-ba61b11c752b phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:fbc65911-10ff-4c9f-8276-efeee96d412f phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:5913e4ab-e87c-427c-a7cd-e2c80677d0af phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:4bd849e6-c3cb-4509-8aa2-4c9349d5f252 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:b08ea7f2-d0bf-44d8-bc1a-21876c35b8a7 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:1485ed7e-f7e5-4be8-8e18-b074eff816ca phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:df2b4cc9-a808-4491-8c16-695c0f08a441 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:6345d44c-93ae-4037-a87b-143a486fbec1 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:9d194567-db5a-4eb7-ab33-0cd89f940dfd phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:e194811a-6290-489d-bef6-cc01e02119d9 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:9588a819-5fba-4d61-af34-3653de131832 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:f3326232-150f-4d07-b9b0-09b3c87d7fd6 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:cdf114b2-9f9a-420f-bcad-9fc1e695e0d9 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:72abf873-800e-4e5f-93fd-822101ee2f97 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:5eae6269-c35c-4b5c-92d7-b7f101ac741a phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33372375 uuid:f10150d0-6928-4cc1-9a3a-00dd17597b21 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:3a2110a4-6cb8-420e-96c8-0c7605ba1e7c phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:406b0c47-a268-4ca2-851f-370575832e0e phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:944872ed-9b7b-4476-8835-224cee057b1d phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:c4cc3b11-e4d8-4055-ae84-5222130a54da phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:654bafcc-f55d-4b30-9bf6-bfa2c01ecea3 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:cae2da42-db7b-45b2-847f-2b414db707a8 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33372375 uuid:340fe40e-9a85-4741-a3ea-4a2184383bba phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33372375 uuid:22a98c57-a275-4391-9c06-b2485f7f0ea6 phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33372375 uuid:be297905-04e1-4bd0-8be5-e6e0e1777f18 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:fdce6aff-0083-4fda-bf9d-268bedfde64d phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:de4f64f0-dc96-47a0-8d16-29c6a8fddcdb phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2c8a912d-0e18-46e0-bd72-f16b9ab54a0c phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:9f4a9c59-8eb8-437d-b212-3c9bed41a89a phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:18214a74-b2ec-4a96-9d9b-eb0161d1aebc phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:e3c5221e-7ec9-4a11-b93c-e3b1ad0cca98 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:0b33e377-0ab3-4430-8595-12b9d8a4f02e phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:659e61b9-1d1d-4afc-978d-e05203309f04 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8a57c6e5-0f6f-4768-a21a-6eb9a99d9ec9 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:7c1c8e67-e44f-4627-a841-7f977a95c50a phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c2baa55a-6366-4d33-af6a-59372febea7c phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:63a18f17-de59-4684-b72a-c4298cf8042c phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:eaa60287-0279-4801-891a-f2dad1a9905f phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:6c5ed0bb-a196-4859-94dc-75e19a5ee035 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:1235f24f-8f93-44cb-97e9-1acdfa53699b phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:38ad0010-fe5b-41ff-9e0e-a509ef656d80 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b5a2584d-a388-4e97-93c4-03c893e5328a phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:0400c71c-7405-495a-812b-33bc94a07e57 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:dd4af994-fe3f-49f6-ad3e-645362c2e184 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c091f9da-cd02-4772-ae98-30e082e269fb phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:a4d191fa-d43a-497c-bfca-42b2d9b3c4bd phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:91fb911c-8608-4832-9f8e-f800607b3b7f phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:4cec94da-f0ea-4205-945e-6a97e5de0179 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b14611d0-3647-4e73-a4ef-19952d7e13c3 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f5097033-a14d-4f45-ba13-77cf8afbcf80 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9c87bc2f-71c9-437c-a11b-3e9492f6b8c2 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:0000db7b-67d2-4577-b3fb-3bcb2f0178ff phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f10b7955-6e72-4cb7-9439-87c169aae3d1 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:80412a6b-7c9d-4ca3-afe6-d2584fcb989d phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:a7af01c9-6dd4-4b14-bafc-834143d9f1a2 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f35b7501-dfc3-4b71-833c-205f169474b1 phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:beae037f-31a1-48b7-b827-965c0bec643a phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:6d119dc0-acd2-4164-af84-78359239db2f phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:32dbdbec-3b29-4a63-8142-f85c60e948b7 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:358ed90a-e717-46ff-bd86-8fb42d93d4b8 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:7aaadb47-6f43-4757-96ea-74ea1018377e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:8cc80f18-0e84-45fa-a274-ee434866b440 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:704a3ab3-def4-4cba-9f78-d9c09b2e7633 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:1327284a-dde7-4979-bbd3-f00e7364871e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:a5c9b7ce-6820-412c-b369-c22f0b3ed323 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:f2c9f3f6-c529-4786-ae06-e19fd00b0619 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:e7332bcc-f2f3-45f7-8769-0dcf8ac426d4 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:551e98ee-063e-4dd1-a680-61370e97df9d phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:33910a7e-b77a-46a4-ad01-cc4d9b202658 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:1589d66f-59a3-4137-8d3b-c113f5a4023a phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:6fc8115c-8041-4380-84d1-55f8b0edf19e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:1462c709-740b-40d9-9cec-142544e22647 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:62032c5a-baf1-42d1-bd94-3b700d83ffb8 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:0701ac57-98b8-4ea7-8e1f-627d07664575 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:f58c75a7-4df0-4243-8ec5-c06ce00ea9e2 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:0f672d7f-70fe-4f75-81af-b343ebc67bf6 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e0139372-e8f2-4285-81c0-9677f577d3ba phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:008dd941-6a78-45f1-bea7-0e6d4436c8fa phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:73787a7d-a278-4db4-9faa-bff15b4ed67d phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e0311690-e9c1-4581-9800-b0cf0b7b98aa phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:a61b25bc-f5af-4557-89eb-7ec759eae36f phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:d5642e04-1e32-4182-94f3-df72dab7d9e3 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:b773ab8c-9400-4d1d-8c23-0f8805bce33a phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:ec5802b0-091b-49a9-b1fe-377cff0b5f16 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:d6372e96-3067-4c83-bdaa-2629a0ff4c0e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:18f20f95-6f32-479f-8044-7637e1599db3 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:98dc2c5b-d981-4017-82b2-b97f163cf835 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:4841afb3-ccca-45db-b841-3144f02d6229 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:28777ff0-81f4-411c-8214-f3092e4247f4 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:2e4f207e-15de-477c-9d84-ec6b4272e511 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:7621b490-c765-4801-a90a-ecd95dbd999e phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:92b7f7f4-475c-47c0-9a0d-7d6a3273fb1b phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:87cb5fd1-0a51-45af-9f55-78a543c3f808 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:9e381da2-32e3-414f-94b9-0a92e731a4f3 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:cde575c9-6a67-4f3d-ade0-e277aed624b5 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:2c117154-9696-48a0-be3f-fdf10d8de7a6 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:bd1a6df2-1f24-4e0d-a8d2-570b07ed788f phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e9e0b2b6-dcec-40ec-99eb-7023be6eec41 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:df4ecfac-f690-43d4-a9b1-ccad16db70ad phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:56c5e048-138c-465c-89f5-94640b1f75c5 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:ddc332c9-a530-44c7-9d24-a2668b3c6faa phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:23731fbb-ff1d-4ac6-a4c0-41bdbfbd643c phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:e963dc6c-42b7-4d3d-a90f-df68add60b40 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:3ab71456-2d16-4d53-acb0-ebd1d9142319 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:26617e12-32ab-46a4-b6e6-5881eb2d94f0 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39359946 uuid:25c3d6e8-e894-4bcd-8e22-ef7fe1bf2455 phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39359946 uuid:84e600b5-1d84-49f8-a5b5-b97163c4231c phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ab0473ae-6b55-413a-bb64-94980798997d phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:35bbabe6-21f5-4d96-b432-828073f5bfa7 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:ecf0a1a6-760f-49e5-8484-6ec329d76e62 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:22dc94f0-9b42-49ef-b50a-d350982f9c14 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d98180d9-e1d0-4e9c-89eb-38cc5c4ec146 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:f4c996a1-3ae5-4041-b6c4-6b1486e84bce phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:bc7db13f-625c-4f2b-b6a8-3ba6888c5f6c phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0012510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:d9fa5cc1-beef-432c-8aa2-7fb8abe3b9f6 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:5954f9e3-5246-412f-9015-4a04176ffe7b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:c267d52c-c560-4d0a-96ef-d7b8d333c22a phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:404db168-324d-470a-a035-436e143f92e6 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148574 uuid:97c27781-9ab5-4d0e-898f-a0afdf830c8a phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:75c77f95-f3cf-45c5-b403-8d6e8b68c8fa phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c217c769-fe3e-4a40-b693-006ddead7130 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:35c74885-12a1-48f8-b89b-73313427d5d7 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:36dc358f-4124-4070-97ba-659fee715975 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:71111373-7b82-4874-80f5-b7f13e76be60 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:cfddd56f-10a4-416a-b3d7-7a6b8107da5a phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:49a605d1-ba11-4361-8d10-baac38f2b986 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:25aff900-c417-48ed-a8a1-2cd1bd9a61ec phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0002416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1ed3cd65-0e97-4616-a2c6-04562b2cfc73 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:80764c3d-2d45-47eb-944e-26dcf3bc0fc5 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ea61df46-f36b-45b8-aca0-0f0b915f1faf phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:7f46fd68-e2e5-4c1e-a1dc-728f3b993b32 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ceb51ec8-5e85-4d0d-b912-5083feda3bc1 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:efe79a38-9194-44a1-aca5-a38630a80f7b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d1b838b2-3148-415f-81b7-89fffc1a176b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a0e34606-7d73-41e2-b43c-0d00ac3f5120 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:73976092-457e-4409-84a1-0f7e8fcebbaf phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:9de50392-0f52-44bd-b16a-30e9e59f89e5 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:d8adf543-dee4-42de-9736-355e579c283b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:fa9dbabb-8b4c-4335-a28a-b310781d8d4b phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:c59a7fea-fd39-4d46-bd81-30029ac02a58 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:a7f1da05-8c0f-49e9-a1e6-bcaed744e354 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:1a586d87-6092-49e1-a31c-49e5ec52b9bd phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148574 uuid:ff1e654d-1871-45ab-9d3e-935137ebb746 phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:c2afccb6-727c-4bd1-85b6-f4829082a3bb phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148574 uuid:b2e76a5a-f3eb-40b9-97fa-3b4e807a577a phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:e2e7d350-488f-4ec0-bdf0-51f02ef88c00 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:e0e18ee9-5c7d-41fa-93c7-5444fdfd4a33 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2f958868-523d-40aa-85fb-4c8ed991ff82 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f1c7ea8f-0d97-450f-b277-990fb392bbe4 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:96a80feb-2eaa-471d-910b-1339f81288b8 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:dca75adb-588f-4e3a-a858-c87c3e2e609a phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:68f2bb26-e363-451d-a476-daee1a851e3c phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:d792f071-a540-4bec-89ba-dc2bd478c6c2 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:1c28f164-5fce-4e7b-9734-f719f34328f2 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:25282b1f-f05b-49be-b04d-60356f1c0cef phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:cc2442bd-1fc1-48d4-a32b-c48f0dbe4fa7 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:57e62820-a9ee-44b6-a768-d27fc9b1f215 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d13fc303-b393-480e-91c2-c881093bc29c phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2628d5ef-f7ff-4c27-bcb6-9a2a274064de phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9f1e8585-4a05-468e-a01b-3327fd15d658 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:74002927-b11a-4d2f-afad-b656d05c81a6 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d96aa194-296e-4a40-9774-45e53cac2603 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:aa2b7ac2-5a51-45da-9663-853143e496b9 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:19f51d94-11a1-4589-96ae-d7e789bec7b3 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:4d36b038-2db2-48cb-b509-524202ccb52d phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:727f77d8-3b5f-4f1a-ade5-3681e41ac996 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:6af8fa72-7c54-496a-acbd-889cd13fb0a8 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:8911521f-529c-423a-a906-d52654bdc024 phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:ca9105db-adae-4691-838f-a2134b99c115 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:34950897 uuid:e1dde735-5400-4649-ab22-c7b4cd70be65 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:55067b16-f6ad-4d06-b7af-3c0d325cfd06 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:ccac4c07-2691-49c7-9182-f53bd9c6977e phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:fa270134-1d00-4841-b1ab-33c2c04134e4 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:09fd2c5b-4d45-43ff-8435-89211e6f33f2 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:1aeb7759-adc9-4c77-891c-c615f1408c09 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:6cf6c042-6ed6-4e04-b359-e10b712eae5e phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:c7dc8b05-48d8-4505-9962-642484be38b4 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34950897 uuid:915ace7a-4e48-4c5b-96cc-09272abddc4a phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:4b2bd013-1233-4918-8c2e-d37075339d8d phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:b08bf193-4e0c-4744-926e-ea9c9d4fa3e0 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:75f8ab14-5941-4132-b70f-e211c839802c phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:7c3b42b5-19c4-4e5a-b249-45b27f7f5d20 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9ae623e3-1ddb-4d71-9b8c-e4d8dc0fb8de phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9dec0608-d097-4607-993b-de00ed6ab8a1 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:ee153bf8-b8ca-4383-a767-14524983c911 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:93673a1b-1906-4671-a09b-500b230a1a3d phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:9fcbddbd-3ef2-466c-9542-c5e1bf6f7f4b phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:065d8ec4-8e23-4fe0-9d3e-e4cadd8e1d3f phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:cbfe209a-8406-41d8-b6d5-c0ddbf844e50 phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:47fe137c-a33f-4894-ba05-7d3e94988f5e phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:d1a236b2-70e3-4b31-aa6c-799159fcc8bd phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34950897 uuid:2a5be3dc-bd3c-4f3a-8254-6175dde6b1eb phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:ae1141a7-df44-4c3e-aa7b-05edfc3bc11f phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34950897 uuid:08333025-2a7a-4fa1-9011-b925e7dfbac9 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:6c243f6e-f37a-4592-b478-0449425f2b78 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:9486cc70-6e15-4e52-8b5b-35fddb7f9243 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1c10e257-79a7-42c6-be57-6ae2c6b5131d phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b66856e7-95e7-4dbb-a182-9211676d544e phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a26da34a-dc0f-4eb0-9899-6b0bb2b576ae phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cac56a76-93e0-4796-83e8-a6f573bccac6 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:da1e8f9d-0831-4737-a1b4-2d46176cd50c phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:11a4b49a-951d-45bd-9abb-14ea35fb4cec phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:930bddbe-5e07-48d8-95a2-7cf2597d1318 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fa9926dc-7f63-4943-a074-bc66fb984f77 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a5615919-6f1b-4d6d-8b47-6cc6fd73dd1b phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:5d112db5-4db5-40b6-92d1-faf7c55d56d4 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:62cad4f3-fd9b-4e0b-9a4c-2043ce98d600 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7329813f-7112-42b7-83d3-6294bc7fda5c phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:de5b0bdc-5f03-426d-901f-90594f8a88fe phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b5831fd1-0379-4b86-a49c-08c90e9ae200 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:13004e9a-c2e9-4a67-bc08-8d0bab9199e7 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:cdd46cde-1ee5-4590-9050-0e791a590428 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2ce26148-e697-4eb7-9aac-f14e3edbfeae phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c1f57b4f-9583-4847-96cd-c5ba0a76e056 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2fea224d-4c2b-4a09-8265-3f4e3ad75cc7 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:df8685c1-2264-42b4-934a-173593d0cb8f phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5dec34d9-b1d4-4fe5-967c-daea819fb3d4 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b67d5d42-7055-4530-8590-96df38562cc1 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:f11adada-28dc-4e6a-8b2f-14fe31ed6d3c phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:29f46211-2a60-417a-af76-402bf6fc7ad6 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2e0c88bc-c93e-49ef-ad61-f004638a607d phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ee222e09-cfc4-41f7-b21d-957a4fb7a9fc phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:15289627-c461-44a8-a781-2e4638cac757 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b786e489-c3bb-4a93-a570-170a8f540c04 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b23b26d0-92c8-4cf8-94f3-0150701c44ec phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ba5c7d04-c585-48d4-b273-4f29ec693907 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c4514998-3839-4995-b33a-14afa7e931eb phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:942986f9-6e12-43f9-a0c3-c6ab03ea2d6e phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:318be2d0-e33e-4087-828d-6df6c1dbd6df phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:4c303ce5-a45f-484d-b6e7-8af364de6735 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:200bc058-f85f-45f5-8b91-13a522fb30e2 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:58af5775-a69e-4708-a84d-bb04a7e12588 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:98a863aa-08d6-4a4d-b4cd-b9450c0b50e7 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b753838a-0ccb-4a19-82e2-8c1fa761f5b5 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3659b995-b7eb-4461-8773-ab7e85a2c492 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:54e45ff8-e443-4033-bfc8-010f0314426c phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:7a7ad95e-3340-44ae-8113-66c69195d60f phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:cab84a11-1fa8-41c9-af11-200405331de9 phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:3f45c870-652a-47ca-afaa-c370b1f523fb phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:96907802-36bf-4648-b663-42fe317b637e phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:79739222-3f4f-496f-80c0-c50c78f2a7f8 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:01d1c3d0-b3a0-4617-b08b-1f83d3cfd3f3 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:d59483b7-7ee7-4739-9e89-dfc06cda1b10 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:7df28a9c-2509-4c97-bc66-53ce3e79dfdf phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:9d1f798e-9524-4c5b-b137-48a12769faad phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:c67c82b7-f534-4e5d-9037-d1caa3c4aad7 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:a3a2155c-936a-4472-9f71-e7aadc71559f phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:4443d9fd-b5e6-4f8f-9c2e-c212ca4605b6 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:2dde3592-569e-4a4a-9d5a-6c46083840fd phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:fb356bad-aeb7-440a-8070-c605cf7dae57 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:e30b95ef-63fd-4450-a695-825f73bf28af phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:ae1c7b41-1372-4c87-a991-6fed8ce2ee6b phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:33cffed5-6c1c-4952-b7f3-906dbeadcd41 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:81b0200d-3dfc-4ebe-af3e-370747bc233a phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39359946 uuid:420113bc-bb23-41bb-8e52-686291ed2f80 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:87e3719a-dfc8-4c9b-b147-9b6e2dff23a3 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:bd052b76-0084-4e83-a2af-79e3b84b554e phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:f08ba3c7-e35a-4c05-84a6-4faf412442a3 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:0ff5c96a-a8c9-4b60-be19-b7e4e69914ab phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:346cc84e-5a7b-45e1-836c-5ec920eca4e1 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:a3beacaf-75b1-4377-90f2-b15574a73b8f phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:b220a83d-1db1-4836-9dba-f0375f8baba4 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:6012aef6-5bb5-42e2-9e11-55235112333f phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:0a2c30df-fe4c-45d2-bcaf-0d6d1412c558 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:8ec7c3dc-fa0e-447b-9dd1-5bd9596dba71 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:66003e3f-6cff-499c-88ed-18f6629a6b25 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:66c05599-9bdf-4bed-a9fe-6823e2776d48 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:a3767e12-6dbd-4ce7-af69-404cc7025f34 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:b32dbff4-ec54-4118-8138-5b3800d979e2 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:cbcbd4d2-aa6a-4d2a-aac9-fe1da67f904b phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:11c4d56b-d28d-41f5-aaed-0e7953b8ce66 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:5d2e1f34-49f3-4fc9-8aa4-e6ae0a9bc9b8 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:ea44c093-feb8-41f2-966f-fad409b084db phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:d5ff14b4-8d96-4f0d-a131-41b40aee12d0 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:00c1d03f-558a-4833-bce7-b47b2486423f phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:7aab4650-02b4-4602-8c94-a4ccb2b637da phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:dfe0c6ad-c0dd-47f1-91a2-ecd71dc675d6 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:7511ac88-84de-43ce-87d0-1db1e1f3abe3 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:1aa6334b-4ad1-4f26-929d-fd80e365f173 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:207592ea-781a-4371-b750-d3688379d26f phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:ae194d46-04b9-4c10-ad58-4a99f9e3c43f phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:6915c8fe-04d6-4f6c-8418-a4dca50cbbdd phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:f5e2f3da-9a00-442c-91db-90f38f6d610e phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:5f699543-5922-4b95-8177-8a949b8b86d9 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:43e3ee12-90e1-4327-85d5-689ef62afea8 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39359946 uuid:1af81d89-c542-47c5-b296-4ad7d502d4a8 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:39359946 uuid:e48da589-6246-46b2-9d0a-a99a44750ee7 phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39359946 uuid:3997b88f-916f-4d95-a664-b0d1bfc14bea phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:9810e8fd-982e-4ed0-8959-27092bea72f1 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:0077db65-6997-4baa-b613-be3972865556 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:637e752d-7418-4528-afb7-47b126d727a4 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cfca0c8d-aba3-4f1f-80f0-b7209ca066b9 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d2f9f0d3-6b97-4df0-98c8-6fffd03a01db phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a6666051-da20-45ec-b50a-bbe2f63d4767 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:a189674b-b906-4222-be3d-6f837a064805 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d711c08f-7850-4dc5-9e54-656f13e231c9 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:1b871811-ca8c-41dc-bfbb-683beae67975 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:3afe2d01-46e5-4e0f-aa04-c36431f6a2c2 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7d4ddf62-2594-4cce-90bb-2c7c8cf75f41 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:8bc5ef53-415b-4229-bd0b-825af5204629 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cf6441f5-cb3e-4183-b841-2b3acdc02510 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:009acceb-68c5-4552-8834-74b8e94f4587 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:4555de29-886d-4d00-8622-f0be2dff66de phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d815bec0-5bf5-4e60-814d-5169600841c6 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:b014b251-234a-41fa-89c1-353762662728 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3de76125-e852-47d9-9361-6c2d80eff190 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e3aa7365-1e13-450e-9399-1029735bd477 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ea47a1a9-8390-440a-b648-4e978112b240 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:2c4df541-2573-44c0-8699-cd102444a86b phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:8f086594-b645-4ec0-ad0a-3b50b9470863 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:9073131d-71f2-4f00-aa36-c608907ed1e0 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b9844758-4dc9-4b8f-8171-ca25207eb408 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1fbfa5e3-67d6-4e2d-91a2-5517b38fce41 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:23b9f0b5-0a7c-4d43-b41a-ed043e740bfd phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:74b19788-de56-4e25-9410-de5c9a8d04ed phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:165fda25-8981-4e8f-aed3-cc19c37df4dc phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:b9cf93f8-95d5-4ec3-918d-1ff66d7e756f phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:77031557-7bee-462f-af10-f2c9fdb044c6 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:3d1a66d7-3f8e-4e14-bbdf-87bf828b4804 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:41d767a9-8021-42a9-838c-da86ace12ec9 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:95d4f78e-3da5-4237-a00a-3fb62cab03d3 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:eb65812d-6dc2-4c0a-b682-68f2d37236a8 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:edd5cef8-9a68-40a7-a717-1a77cd6b7696 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:288d8f0a-f5cd-4cf1-93ae-d81620a60892 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a2ac3e7c-db08-40fc-bda7-be2a4c67a00c phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:56fee1ff-16e7-4d13-b01a-d15caad68f57 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:97a7ab6d-75d1-4488-b6bc-b654af9303a5 phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:2a6f502c-a6b7-4ede-8121-2c9277a5d06d phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:33d473f0-7cbd-4011-a916-1591c51d8984 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:e5147694-26be-4fec-abb6-02beb1a7d66c phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:167178d2-e383-4aba-82f0-48304e561fa6 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:8512d0db-68a9-4af5-97de-803826ce6e38 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:f35d9b78-9fd3-4e0d-a976-17755632c358 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:e29f8320-eb89-47f9-b71f-d28076bf12a1 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:6283ec7b-6197-4cba-bb7e-ab4f12a9b3ef phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:af1f0d15-d762-4891-a84d-2f8d9579c4f2 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c52aec98-0536-4f35-8e47-5ccd614779be phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:4debf747-b090-413e-ae1e-b5f5c80367b9 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0f3f3929-7ca2-4310-a275-8fc0612214f7 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:c02262ec-ae8a-461d-b008-9656dee14ebf phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:107aebd1-60b7-46da-8419-749b75d5fa69 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:9aaff361-a9bd-43f8-990e-a734ec15a048 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a2025c28-8480-4b33-aceb-55b837b8ace0 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3a9fe7ad-be0f-435d-b6ce-ac1ed1b57a98 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:d5be767c-d5a1-4067-a9e8-ce26edd2fee4 phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:56359d86-52cb-46c1-9293-ae05d8fdcf16 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30152016 uuid:99182f9f-ce60-4658-b73e-15e94f2ba42d phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30152016 uuid:eaa79e37-20fd-4127-a21d-c23ee9221cbc phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:8c5f511e-a51e-470d-a69c-3f798357e300 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:d7b8f408-a79b-4722-8b18-10a0218bf491 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:4b47b573-5b68-46ca-8a9b-e4d769c7ebe0 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7def6cd0-38df-47e7-8027-026d5700565a phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0002781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:842ac672-c91b-4479-8a69-096fe31b70ed phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:50eb165d-4a43-4ef3-935d-f26299d6ff1e phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a040f3a7-e463-4e24-b0db-fa394b90e820 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:0e91ba05-80ab-469f-8704-ec1c0ca59c01 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:774c68d6-b1b6-4f53-9717-ff13b6028580 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:1ddf1829-fa05-40b3-90fa-83cd6f272244 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:a6122e82-cbfc-4c84-a5c8-0d2a057a237b phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e3302377-4b02-489b-b373-fa55ebb41f80 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:516f1dad-61ce-4cb5-8d23-1d308e862a29 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:30152016 uuid:b8a3fbab-2403-4a54-afb2-7b6a70c0d006 phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:4cb600d8-2839-44ab-a757-c397e5c3f717 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:698acef1-d827-4d84-8747-079c1cbcac4a phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:db22a3b1-03ca-4487-b475-896cbf0b5966 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b6769a7b-85be-475a-9f28-98204aa73381 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:bd014435-dcd6-426f-8327-afd0db11a11e phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:4bebb5f6-d99d-436e-b646-9c7d3ca4cbb3 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:aa504b18-fc61-48ad-b935-2b58720cc813 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:8d036c30-d66c-4dda-954c-3e4008c0f6f2 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:a1498dbe-182a-4a6d-9775-78d51d05ee56 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:ac06c5d1-e37e-4fb9-b1dd-8ad90f166e1f phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:b8d4784c-53d1-44bb-9d6a-4b350625bf19 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:9284764a-c7aa-46d7-8584-4e6bbe550af4 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29696776 uuid:cdc65c75-43d0-478a-8ed8-bb56069fbbd2 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:1ce38a71-193e-484c-8ab6-327879a9e229 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:81ef8f40-c556-446d-b4c4-19bd9e425506 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0ee6de27-506b-4ecb-a0cf-3ca3ac810139 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:b9753cbc-11ad-4038-911a-c26b4ccd2d2d phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:031083ae-7c97-4530-95f6-995338b3e53d phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:f57c60f6-3339-4103-9446-6d85d55d5ef2 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:2289c946-4fb1-4e2c-8a8f-59480f28e53b phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3f535048-c745-49cb-8f8c-de89c0b9bca6 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:3dcffffe-c352-442c-b147-1319495421dd phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:30e6e53a-feb3-44b3-be50-66582cd54b2a phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0c818e26-57fc-43d0-b9bc-6bb58255f15b phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:13d45f8c-cf44-47ec-ac8a-b8b6af5d66c5 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a5f8752e-7f56-4c5d-8a71-6b40538da626 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:a7f7228f-e4e3-4527-956e-c1def178f2b4 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29696776 uuid:0dbc37d4-a05c-4546-870c-b138750564c4 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:6db27f0f-8da9-410f-aaed-86cefd95b855 phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29696776 uuid:de96c11c-0534-47c6-8eb3-746ed9eb5b44 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:30152016 uuid:b2ce2f53-ca00-46a5-a54f-0b4bbaa5d51f phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:30152016 uuid:67d0e033-223f-4993-9578-ed460b05923f phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:9e3d4a0c-e30e-4f3b-87a3-cac9ec7933c2 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:cdf09bbf-39c9-4709-8541-749729ccff56 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:aa7e8919-f610-46bc-b334-866167fd8a9e phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:5c098319-57c7-4bf7-a080-c95eb6b6081a phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:6811a03c-d677-40c9-9417-c879e857c49d phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:bf5c4cbe-53f4-4645-b888-4e61741f21f6 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:0265bcbd-e605-481a-bfdc-fb14c0650b51 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e5bb17d2-c2e9-49ac-8c92-e0bd9ec6527e phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:221f361a-305a-40f6-a9c3-4a7dec067857 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fffbba42-8dc7-4d4d-8840-c48f520f759d phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:f7bb06f1-10f2-4c1a-8696-176888a8ece2 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:fed49e41-7333-496b-b793-e279f8bad5f0 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:89215713-2c4f-4337-ab06-9e756a19a268 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:e8bb2d8f-f588-4fa1-b617-af63a0dfd32c phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30152016 uuid:7e687974-2d4c-4447-bfd1-13bd9c3f9614 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:c02e8520-dcec-493e-a6da-1bb2d715a9a8 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5b054a1e-d8fe-401f-9136-43909e48b21a phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:9757b3b8-8dd7-454f-b464-4a2dd03df42d phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:295fed92-f4f2-4c51-b089-05c94f4d6081 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:5076096e-7d7c-4810-b9fc-dbf2917e651e phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:ae6517e8-c561-4eb7-a405-fb8cb624f420 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30152016 uuid:e3d726d6-3079-46aa-ab26-0f29f3553c67 phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30152016 uuid:5a7ab796-0556-43a3-a50c-9cdbafb6dd2b phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30152016 uuid:3b75b20d-ed51-48b8-9dba-17cfd1bc329f phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:35716097 uuid:745b4c51-e9c4-49c7-867f-78476e4d63fc phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:ae867659-e1e7-47d0-8f9e-8e9a3f1a886b phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:19fe833b-71d6-465d-96ae-54a309c5baa2 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:426f3ce6-9283-4ec8-a4d5-ad9a118c3ece phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a689230c-825c-4043-ad8e-2e644a7d6b3a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a1f9614b-96a3-4558-8fae-264d4375515b phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f253591f-74e3-491d-9d75-ad6107dc2906 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:bfd50ee4-253e-4b12-96eb-1fb3c5c00904 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:bb3d4878-eb4f-435c-9fc7-1f8233aa2fda phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:2bf3f707-2eb4-472e-98f4-b56b3e270e6c phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:029cb666-7821-4883-a0eb-2ff34281b03a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:f2cedbd0-5560-41b2-ada2-fb123d4bbb4a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:a7f444e4-35e0-4974-b67d-b4472f73ccea phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:55668412-059f-4e1f-b69a-b9788b946c97 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:fa37557c-0596-45f8-8c55-e27fdf0e3dc5 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:fc5a5676-6390-42fa-909a-aa01b27de42a phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:1bc36787-bc5a-4cce-90b6-9f4d9cf8f95e phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35716097 uuid:d5c9f32b-7251-4b74-b404-b2f8ffb4f7bf phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9cfb6114-3ec2-46e6-9d75-1759227320e4 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:1e884d8c-9f9b-4615-823c-5cf55a5394b6 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9104c9dd-e2bd-4cf8-ae1c-af817e5e6efa phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:afdca39e-66a9-49f2-872b-0aef7c34789d phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:9084739d-9cb5-463b-a97e-b74c876bb3f4 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:c2464cbd-c3b2-4ed1-bf4c-6b547db1506c phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:650da895-4960-4de2-8aa8-71418f46ebb5 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:f241099e-dca1-466b-be6e-5523532f43f7 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:8ced5c35-10e3-4e2c-99bb-84f50dfbbc43 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:bff9f04c-dfdf-49b5-a941-5d922a19ceae phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:44fea198-a928-470f-999b-d1a1bdc7180e phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:b6127aec-e4c7-4374-b338-bbd3181e9c4f phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:d6847d28-4a12-47e8-974a-c1e5fece7042 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35716097 uuid:2217f180-f13c-4422-b6d0-2eeb576ca406 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_disease OMIM:615829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:19d91aa5-fed2-4ea5-bab2-509d0c401fe6 phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:has_gene HGNC:25230 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35716097 uuid:dce0b113-3622-4655-939d-67fb1cfcaffc phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:053c6202-a861-4c6f-bcac-3a5d9455924f phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:19758376 uuid:deafbb42-e70d-43e5-98fe-8476f35b3b3c phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:19758376 uuid:775f35d9-775c-4410-8ff9-69f8a3cd82b7 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:5a985cb9-5df3-45aa-a4a6-3872d5878bb8 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:ddae370b-e552-4ef2-964d-a2164de4f794 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a7d446fa-bdf0-4a74-a2d2-9193e169758b phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:232f06a9-b2fe-47e8-92ce-6747ffc84903 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:253f8cf5-5ace-4d45-b697-cda78df56bf9 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:96ba7f91-30d1-4b1e-b376-52b80abd03e3 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:82110cd9-b9c8-406f-a4cc-745d5908a838 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c5102dda-460e-41ab-9fe5-ee8c03f72971 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e171d662-e27c-43e0-a93b-2e73d1dc69c2 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a9107055-3505-48b7-a1d8-6f8a3fe7eb64 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fd056022-188c-4b34-9e70-c89e89867148 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f0020e20-39ec-4311-89ea-88faa3362ff5 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2953da99-b388-4010-bfa6-79240d9762f4 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:b19a9bf5-d855-431d-9f53-c73b29422b96 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c72ce96c-5f95-41e6-b8c4-884e41bb4bbb phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:346f5591-5dd8-4cad-8e5c-5b1f8b78675c phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:ee3be997-ffde-4777-b3ff-d35d88d120b8 phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:c64693c1-c1d0-4cef-b875-27b53fbab568 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:16965330 uuid:eb754877-eec2-4d85-a3c0-cea01bf4d6d3 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:16965330 uuid:921b6324-c460-4c5b-9149-5813b72ee928 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:16965330 uuid:2ee23ddc-16cf-4059-ba56-0d966c6ff1d7 phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:1040b756-d778-4cd5-af7b-9bdc978250ba phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:16965330 uuid:afc7272a-3ce2-4b8c-b622-ed2f671cf23f phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:91dad036-59ad-4938-9036-7473821d822a phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:22024611 uuid:60b604fb-ad8e-47c7-aa60-25e1e28a6d7a phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22024611 uuid:dae740a2-8171-4074-b8ac-a8656b139e63 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:a5cc8e47-426a-4836-88a7-5eed096ef7f0 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:e6592169-1da0-444e-a944-3b1834afd929 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:2c440617-78ab-42ac-93b3-3dd6dd89e877 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:baf27fb9-a2b9-40a2-a8b1-4988677f11f5 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:4cb16c3d-1424-497e-982c-1e93289dc8c4 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:42b897ab-4888-4b9e-933b-efa328c6ec89 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:49ea78be-3e94-497b-be89-537eda963253 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:2d194760-82f4-40b4-82b7-ba6cc1131c65 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:4da313c9-f84f-42e4-b5d4-b1682a9057bb phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:d871867b-aa9a-4628-9995-e6c0f9efb97f phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:07e5f363-fe42-4417-993f-eb227396966b phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:02816a4a-de62-4d57-9e2b-c80df7179f80 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:f00e4050-4914-4ab5-91d5-8594ce607b3d phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:7c1aa826-0d68-42e9-9596-d2e51fb16bee phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:597ab5bd-122e-4b9a-ab4f-ec1d0d9cba50 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_phenotype HP:0034189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:15ae5f04-1f86-4967-85e9-937682351123 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:22024611 uuid:b099fa95-3a97-45da-9c67-7ebf00bd5a45 phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22024611 uuid:4a490f42-4aa5-43e3-b227-e9ad5cfb6ad8 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:18616706 uuid:30985f4c-1e9c-4fa2-a460-699834b34c8e phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18616706 uuid:e47a8238-9567-4ad8-853a-dfd289d8e6b3 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:18616706 uuid:ccdee8d4-7ec4-4aa7-9a26-781b124da461 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:368e4922-7bda-4332-a56f-c7180b906464 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:7d32ca47-589c-4ffd-bc52-97921a360a23 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:378ce7d4-d971-4766-9667-75de60951975 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:0b264f9c-648a-4fbd-b48e-e9a0ffa811bc phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:75b3396c-cf7d-433e-801f-10061dc0b7d9 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:82511559-ba03-4d0c-afe9-00f1bb5600c2 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8e8bcddb-95e2-424a-8af9-f33edae9cebb phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5da40ea9-bb9e-4c3e-9ab2-825de48cad59 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5dd6f472-08be-4095-9fd7-9e5810a839d3 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:fdc3472a-9bee-4819-8d44-7ba267aa6f44 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:18616706 uuid:0e4361bf-4f09-4b70-8651-8312bba9e8e1 phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:127db6b6-f04d-465f-8182-2877b0852036 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19807739 uuid:de5b4df5-f6cf-437c-998a-a46f028d1ebe phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:19807739 uuid:6bd5c3bb-0c5a-49e6-925c-6b90b74c8bdf phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19807739 uuid:e47a3855-f4c4-4cf3-b265-2279e7893ed9 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:c2d8f901-4e12-43cf-82c4-3cb51df2baf3 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:c4a7e451-6bce-462d-9c43-bd9648e8ea74 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:22197516-3347-4c06-acb1-5074cd4ab620 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e373ac25-c63e-48a0-afae-1eabb2f27921 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a0851dd1-8b8c-4a73-a41c-7b4204aa3f6d phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9627b499-9ea9-4a1d-a290-6441c23f0956 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8c89bcb8-783d-4c92-9ae2-51de104a3360 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:838a25fa-e6e2-4afd-8019-d3673aadcdc7 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:41b7ce43-29a8-482b-8495-1094e600e231 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:495eb1c6-d279-4a8e-a45e-4f08f7ad9d88 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9d314b54-6379-4727-86fa-3a90a4377530 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:ef072791-7df6-4d70-a62b-2f2b9a7b3129 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:dcb06e0f-954c-417d-b17a-0ffdfa51e3fd phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:da3c58f1-5bcd-4c10-99fa-c347c2ccee89 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4318af8c-8698-4341-be2c-b1de89dfabfc phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a2bf91b9-8a5f-4c9a-bc2c-1e52b0054c0d phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:3250536f-69b9-401e-93a4-81e564cd02ee phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:045d145c-6877-4b56-be72-9e39591abd04 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4b6c8c47-a76d-4794-9969-2051f941cd64 phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:19807739 uuid:f2f7fdea-2c97-4a4a-ad01-4472de65551a phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:5dd4f5eb-4e95-4e83-b3e0-addfc039cecd phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:16965330 uuid:fd45276b-b65f-4c40-9b3f-5caa59ed024c phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:16965330 uuid:6c26815e-f79b-48f0-a08e-2cdbeac3354a phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:e41e07e6-fc30-4925-9214-ef5e16f68df8 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:44b41cdc-7ae1-4993-95bb-aed21db6e5a8 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:16965330 uuid:77f9fd87-6f49-4e06-8c0b-00e1d32feb39 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:249468e2-b2f6-4c78-9ec7-9249a300843d phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19758376 uuid:7b5633a6-5036-495e-a138-8e3c7bbfe151 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:12c9f6b0-be94-4cc3-b517-bc136d1cdce6 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:bcb5c0fc-4f97-4a7a-a558-e371d8d44e83 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3679bfe5-1cd6-4575-845d-bf35221de0d7 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:20303fea-65af-4e0b-80eb-3eb012da6e4c phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:880e467c-d763-419d-b88b-5eb830c34214 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:86dbce5e-7497-49d2-890d-df1f21c2bd0b phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:090e92f0-4b0d-4952-85e2-aee61c404e5c phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:1943beeb-0527-44b8-a73b-8d454f7d3120 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:b613564d-4aad-4378-b3bb-e12ebd7f4511 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:640b7423-8bb4-4584-8c47-690377f2f869 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e01a7982-325e-4edc-8cf9-98474585f176 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:95d4025f-c7ab-4413-a937-86f79b10d0e3 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:1a1176cc-b330-4a76-a8f7-39efd384863b phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:481258bf-a3f9-4a96-8414-b186acde259b phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:02fd7318-f0cc-410c-914e-f516752d7662 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:361c7dee-bfe3-40ae-a1b2-1896a9da93e4 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:26c2df64-4476-4437-a8a3-a1d196ba82e0 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:6fffad9c-db80-4609-ac03-a508848cf6f1 phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19758376 uuid:6270faf1-ca95-4c48-a872-d8a552d7ee3b phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:388d032f-11d9-45bc-b36d-a690f0802dfd phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:19807739 uuid:54407f57-d5ed-48ab-828a-a1f723101a89 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:19807739 uuid:86a64517-148a-4630-97f2-ea333f236bbb phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19807739 uuid:f7ae4000-300a-45c5-a330-8bf6fc334382 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:0ff14f4d-c77c-4862-b4bd-5ff9210d03c1 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:95ea2ac9-a4d6-4085-b275-3ddeca1f100a phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:a71d95d3-e2d0-45e2-9537-b331c0c588b9 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d6fe30c5-e8e8-4cb1-9fd3-cffa9ead0220 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5cf20233-56ca-4dc7-9384-807876034790 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:dbdb8cce-9b35-4b45-8ae4-4c464162fbfd phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5de6cee9-2d1e-44b1-b527-a1c891b1ffe2 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:211d7245-971c-4897-92f0-c7817275e7c9 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9deaddf9-0edb-473b-9ffd-915585ebe036 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c4213a03-cd83-42b4-b4a9-1794072b6b66 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f56098ac-e88e-4722-9925-6771743f84fc phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:0ddef93a-4add-47d2-9606-99a095c9f148 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4dea9cce-6376-4382-ba31-1582a3e3fa44 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f47f170e-795b-4399-8349-f267dc25524f phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:56943f36-ee40-4b12-9cd7-7e47fb1fd8ae phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a32a26ed-37fe-4e8e-bd72-ad0d7703b656 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fe32161a-9c5b-430e-86c4-73e4e32c74ee phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:501ac636-4fcb-44bb-b9c5-5826a5704e1e phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:54bb0713-46f0-437a-9f46-d58eeb1932dd phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:19807739 uuid:ce4825e7-d72d-4b70-98fd-d7b1db7418b8 phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:c8c28c05-1713-45fc-89bd-3eeffc065866 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:16965330 uuid:0fa43ab4-14ea-414f-aa7f-01a6d2c4d602 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:16965330 uuid:5576131f-5ac3-4c0c-b2e3-71cb2e5bffe4 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:16965330 uuid:0cc3283a-ea60-40f6-9697-6de5ba99f60e phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:95af1f1e-add5-46fc-a6d3-15ce053f09fb phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:6daf93b5-e6ca-4a42-8292-5c5ed9548a16 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:5bb852da-11e7-448a-98d3-bbda0e07b954 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:6a501c0e-6528-4cbb-93e0-fc24337982a8 phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:16965330 uuid:b20c1883-43a2-4f17-b53f-e590cd668dcb phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:00cff14c-21dd-4c26-b98b-979ad109b12b phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:19758376 uuid:060100d8-b551-4c2c-9f3c-8ca383769a85 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:0c51e7cb-f52f-4d43-b902-bddfbe6b93e2 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19758376 uuid:26cdfa2b-8ea4-4a73-887a-b109f3adca60 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19758376 uuid:1d479d61-56cb-4534-bc97-496d085c0111 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19758376 uuid:c79766c2-bea3-41e8-8e90-21daf3d26604 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:240d3376-82b2-4bee-a1bd-d92973f675de phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:974e78a4-109a-46fd-821e-b6b9f346a721 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:9325a771-2d6a-4ab5-810f-7a0cffff8459 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a508cfa1-b269-4184-81c9-4f393900db3a phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:424d9661-0faf-4d0d-b789-e97a013e60e0 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fd4e4723-2606-4a81-817e-0bdfca1430d9 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:80c90617-b08f-43f5-9f14-8696fe31aae9 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a3c46c92-3b40-40cf-86ba-b7be3fb0600a phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f2a93a17-4d7f-417e-b347-d943a5397358 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:13edbf32-5d76-4bdb-ae51-f1bdffaa46a2 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3eb084b4-10a9-4bf6-aedb-5846bb6406a1 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2779166e-0685-42cc-b2e6-414a8d5cccf1 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:cd289b2c-a128-41f7-bc63-653a452d97fc phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a3b5b440-ee93-46bb-a0a0-ba10d13a31a7 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:f57978ca-d5c3-4a1c-b309-f2c5e909c5f5 phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:93256ba4-22bd-449c-af6c-88c544c1e50d phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:16965330 uuid:75c79928-9cc4-487a-8b42-d2c321db8554 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:16965330 uuid:08b972c9-1d69-421b-9f34-afa83ee5627b phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16965330 uuid:a32c628b-cdf6-4c24-816e-7aea5552beca phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:7deddbd1-5d8e-4cc9-bdd0-7cd536611320 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:83152519-5ce9-4a45-bf0a-330af8dfd41f phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:8d792b23-4bc1-47ae-8146-1e00708db2ce phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:14272493-5414-47d2-a00a-33801ce91a52 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:5f984700-d10c-4be5-ba8a-cbb2bd5d2995 phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:d8e757e0-04ae-43dc-ab00-513c43526deb phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:16965330 uuid:d6db9291-9ee1-418a-8d83-f8e0e392ee5d phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:a4c0c9eb-041a-4311-9729-5d0687d8bee9 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19807739 uuid:fab588a3-2770-45df-9d5b-07d8c24f4db8 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19807739 uuid:0ab2e852-84f5-4a7a-a9a0-f1fe04b34317 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19807739 uuid:66240f53-6120-44d0-98bf-7a36bd1f75e9 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:491851d3-aed2-4b55-b0f1-28bc5962058b phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:e6501de7-382e-434d-b9de-4b929ac57a60 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:9ddc9a64-14fb-4c63-891c-60486271119f phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2db175cf-2100-4c89-af21-0976f041c332 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:994068af-5341-4fb7-9cba-babcdafe3bb4 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4f720ba8-4489-4c73-861b-08e86be95a76 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f914f08c-a669-42d6-848a-2616a0905084 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2d58178c-3be0-4139-95d5-fd374ac33fda phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:26d5888b-e4d8-4425-86dd-5d1d84efff46 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9ae830ab-7090-448d-aeb0-665ffca30c58 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5f0a65b4-726e-46de-9326-d7f99bf4b7bf phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d0c49507-d56f-4a23-ba90-7a1b1da2dfbf phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:00e91153-8cd2-4217-bb99-dec6b23771c7 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:934ad3e3-137c-4278-92fb-5505782c08e0 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fe92715d-dc14-465d-a808-e926af50f5a2 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f1c35d03-084a-46c2-a6da-93bf0d0d923a phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e797820e-503c-4b81-a037-adf520daecb2 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:0e089459-446c-47a6-9b07-2ef3cad8923b phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:22b8a3bc-17e9-4249-a3cd-fcb134f65f50 phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:19807739 uuid:5c4fcb0f-4afe-45ea-89dc-bb7c9da3ef1b phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:10ffdc07-8098-44cb-96e5-4478ffecaf98 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16965330 uuid:dba95fbc-b99b-4bc9-8f1f-45e4f1cdb33e phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16965330 uuid:888e4a33-6881-49ff-b88e-535e38f6323f phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:641dac83-17db-436c-b8d8-bd66ac4577c5 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:d301e76f-70c4-448b-9728-3c6dc8a10440 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:16965330 uuid:c2e287cf-5d05-4403-b951-66072ee1bf29 phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:ae64d1a6-a6d4-4e17-b939-06bf6e557381 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:18616706 uuid:bbee204c-c493-4eeb-8f83-3bc155451540 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:60452c4d-f990-4eea-9b54-5a97f40b7882 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18616706 uuid:092eafea-0b8f-4573-8434-7cf98b8f9f14 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:005b26e1-32f7-4b1c-8cc1-07ceeec75243 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:ea32e1a7-0161-433b-957d-1df49139c538 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:57020fa0-6521-43a4-abde-c0220f8dd363 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ff665d36-e945-425a-99dd-74c7c163a834 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:6db64a73-6179-4a6f-b695-e26593d91afc phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:850c0452-96c0-401e-9b51-42d5865fd2ed phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:b1e779ea-a211-416e-a83d-005b09f77d1a phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:00710e1c-f16a-464d-889f-b35ad5d1b30e phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:85f1f0ce-9f26-41dd-8d02-6e2d8f614c99 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:4fb50509-d242-45ff-99c0-b92510d2c510 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:fb4e9ddc-c806-4020-9760-149b4724189b phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ec29f7cb-b483-4a5a-b05d-e08328a41d0f phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:18616706 uuid:689bb89d-8b60-43c7-8858-bb88d89e27d5 phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:a38f10f7-27d2-4bdf-9bbd-12878a3a4c7b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:d3cd112a-099b-4fbf-85c8-4d91a42d5e87 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:86c9fe2c-1552-4be9-8bc2-d2d1311be29f phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19758376 uuid:bff147db-85fc-4e9d-94a7-b2ca1ef4ea6e phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:19758376 uuid:1d6fca0e-e715-453f-bdef-fc51fce2d89d phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:39cfe09a-ec55-44e1-aa59-a5d35dff9ade phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e75b89fb-90b1-413a-97a1-07e203bf07bc phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2ddfb133-f7db-4e89-9fee-c9f2417057db phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:06ffdfb3-ca68-4ec8-b3f3-233759ab7b03 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:0f1b3e25-81e6-438d-b945-298aa0a92e7b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:aa97c8e3-9848-43e2-80c7-c82e8f52fe29 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:90b0d637-4676-4935-bd5d-3e285ce9d7e9 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f115438b-ed00-4cbc-8501-3668989fa3b4 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8c7f0367-4c21-4eb1-b440-6de7d64af3b8 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:85d82fd6-45ce-429d-9aad-6d894e92ebef phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e60db653-13f3-4b9f-9c3b-67706072fc9a phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2e8093f4-2c05-4292-85df-24e04e308df7 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:60553564-74f9-429e-9fa8-5285fd4c87cc phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:0fa1046d-ac20-4df2-bd1e-1477a6251f97 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:ef5c84ea-4521-49ea-ab4c-1486e1da8ae6 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:46c58664-9f4b-4126-bd3f-ad6faa0ff1b6 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:015c059d-e49f-49be-b48f-34eef8495293 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:16965330 uuid:d2c2ec93-50c6-46c6-85c9-2fb5291fe77b phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:16965330 uuid:380ecb4c-5806-4dfe-b5e8-15b4d4fc1e03 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:a559b64c-2805-44f8-9214-b1c011ffcd1f phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:a2065981-4f75-4c0f-b958-056c84aa9288 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:d40bb9dd-5520-499d-b3be-29cc8b080d3d phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:16965330 uuid:8feb99dd-2546-4d06-ae18-e71f5a328c14 phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:5e26dcea-7c49-4a3d-9bd0-aaaf897b3fbb phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:19807739 uuid:5206a6e6-fb6c-4702-ab02-ed856b713929 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19807739 uuid:c8365932-05b0-4fe5-9f48-5ea8c3bee136 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:19807739 uuid:07e21af7-9ca6-4cbb-b09e-d12b836ec25d phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:4544ce22-3aeb-48ac-b964-7aca919d1652 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:513c63d2-4560-43ff-a49f-78bf3e7b4b24 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:e1935179-f523-4d46-a0bd-073d056c3bc1 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:85cab06e-7e53-4679-8205-899a825f7668 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f11b3aee-2093-43a1-aec6-9e38eec50c6d phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:cd731ddc-1ed9-4277-b57a-26911eec5596 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4888d10b-8285-4b6f-a641-037c210bfa7e phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e8a5dfd7-6bc2-42b9-8f15-42a054f3fda0 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fd3c2af1-84a5-4254-8381-21e6b4c0bb2c phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:60b45110-d904-4129-817a-1ae18aa81be6 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6c7cefde-8a8e-498c-8272-2922b301582e phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5430cdaa-ff2c-4196-a2e2-0fdb6848dc02 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fca63724-5b37-41b1-a5b4-1391dc9d84bd phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d0ddc6e0-3953-4ab0-b378-0ef46695ecf4 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:bca9047f-390c-4165-9f60-4cd0df89c5ca phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:660f27e4-36bc-4604-9a7f-73eed99c4555 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6168633f-2e9d-4b6e-a105-b3a33233e7ba phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a7d7790f-b1f8-4fa1-a1ec-a2a96170336d phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:bd954bc8-0fb4-4160-b557-a2553137216f phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:19807739 uuid:03915eee-ac32-4219-b1c4-9a9d486ac809 phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:780c2fb6-43f9-4a0c-95fa-270556f5ebf9 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22024611 uuid:a7b5e56d-b694-410a-b19c-1215dc6b8174 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:22024611 uuid:b1e67279-9313-4ef8-885e-680f311a0660 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:6d721f9b-0118-48d9-ae19-49f0de04b837 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:9447d93c-5269-4f81-ac24-bb0db2c326d2 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0002232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:0f3e9e1c-1e46-49b0-b8a7-d284df24d9e4 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:24773fd4-4294-47a4-91fa-cb7505385387 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:5033b442-6f63-478d-8c9f-9b366c1ca672 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:74fbf9f1-490a-41e2-bfa5-fa10a72ff9c2 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:e234fc1a-7320-4e17-8adb-e84947c23f27 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:66c1d97c-74da-474f-b8eb-3125cc2f58f4 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:fb132057-6638-4205-9c6a-3093ac01d8ca phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:61b0cf8b-cc4d-4192-b206-a53b1a1727d3 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:7dce9fc0-07df-4891-82f2-ffdb8dca3b73 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:4c0da5d8-6020-47c3-a75b-df1b8b87e7ca phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:059a7a9c-4af4-4f3e-8bb3-52a412b329da phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:cdbdbe5a-fb99-4f78-8289-79d2321825b6 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:a820cc9e-9162-442b-bbe9-ac6f45c4ed58 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_phenotype HP:0034189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:ac719adf-0d7a-471e-bdbc-ab898ac85e20 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:22024611 uuid:938e3d54-c790-4e01-b7aa-47796c194c73 phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22024611 uuid:471f6127-296b-4d73-9740-82cb18e80bd0 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:16965330 uuid:00619ccb-39ae-4b40-9b6a-db9a48419f20 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:16965330 uuid:d0939ac6-1bbc-4230-a331-78d944153292 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:16965330 uuid:cf52cf3e-bfe2-4993-90a1-ae7970c19a10 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:90fcc645-b4ac-48c6-a0a2-b572c109200d phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:1a8bf3b1-0ae1-42bc-a740-cd7ab2397616 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:42ed9cce-70cd-4264-818e-82167a7301b4 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:16965330 uuid:f8d73e13-7642-453f-9bc3-23555cad5c11 phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:a98bb741-07df-442c-bba2-1de6e1da0820 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:18616706 uuid:0be328a4-cd55-4127-9d47-b534fd4fa46b phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:18616706 uuid:b8b8526c-6bb1-41e1-9230-6ddb335d1fcb phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:18616706 uuid:88b55b7d-8000-4f93-b119-63dad65efe7b phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:37293024-c4ac-4877-8ced-ff954a3ea89d phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:1167f478-1c72-4519-acf2-210327f813d3 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:e837c38e-ecc7-430e-99f6-a9016122bacd phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:7067d460-9502-4cca-a538-5bad306813d8 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:0db98ca4-67ee-4a2b-a9f2-0d45a11c2df0 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:53214783-98a3-494e-99d4-78ee4b5cd771 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ab5e7629-aea6-4136-967a-2dfa4af67c3f phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:1e1b20ac-da55-4761-af04-f5eff6e7cec2 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:acff796e-e21d-44cd-aa63-fc625505e1be phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:70e8a2b2-7b8a-4747-abd1-5cd5fbf19867 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:9d5dfe0e-24c1-498f-b83f-51afa77b7504 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:a38427a1-7867-4348-b6c7-2f63524abde0 phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:18616706 uuid:7f6146f9-3cdf-41b1-9423-8fcaaeac6e8c phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:7f4c4a4c-0144-45ac-b2ab-2794b4d57c6d phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:19807739 uuid:eb0be38a-b3f7-4e54-b9ae-6f75c2f9c6a0 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:19807739 uuid:87ceb15e-c3a0-42ee-85f6-4996ef2de7d8 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:72d7f023-589b-4343-8389-089385515a48 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:7205ca63-8e06-4b0f-aa65-6911b4581323 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:463d9400-a550-41f8-b85e-44ebf3503191 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:07e902e6-0e56-469e-9f83-28744a0dd279 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:f6b5da16-9467-4cef-b699-815f6e3c922e phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:51632365-4f9b-46dd-a0f6-cdcde71703ab phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:401bc6fe-cbd0-4853-aeb9-190a2f637a32 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e9aa52dc-37fa-481c-b54d-1ff90edbf801 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:85fa283a-52ed-4619-9bb1-ce3ce9511f5d phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8f943a2b-f196-4ff1-bc78-c3478916e570 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e84f0377-6cd5-4c82-ac17-a46a40a09c94 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:0743be19-fe91-444e-a320-4fbafb7385f0 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d23804bc-9df7-4d58-b892-6685c33a86aa phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:5e7aa6ad-b5f9-4f1f-b660-30911e948860 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:35a510c4-16b1-4bcd-8b6f-18e0f3e674e2 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2cd1fa3a-8072-437b-a4b7-2507efa43b92 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2ba33587-b519-4e0f-ab99-d877083d4aec phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:15081a1b-9c3f-45b1-a7a2-1e0fa61318de phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:3ddfc2ec-3260-4fb0-adc8-9c95b3b6fae8 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:19807739 uuid:17eec15f-1720-488e-bedb-31f611875586 phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:b517a751-49bf-4236-9733-0ed127a66155 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:d0a8e04a-a4e7-461b-a2dc-52feb6bba480 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:18616706 uuid:ddad8e54-7e4d-463b-9821-78047bf1b33d phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:18616706 uuid:1437781e-8a31-456c-acd4-762566013fbd phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:754d3087-9a16-4bfa-a1c6-fbdef4b84f0e phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:671ac690-7120-4e74-81f3-8e140a9e632c phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:a810c169-8a6d-4062-8b69-f1b3de17584d phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:0374a04a-6314-4434-8eaf-d372dc54d3e7 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:bd28b91f-05d8-4344-a8ff-a4a3a0a718ec phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:772fad88-fa5f-4d2a-9a7e-07a8691b3db2 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ac628e6b-1fc9-4048-be80-1c7294f64aa2 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:7d64e2a2-dd4c-4aad-b0ed-33321df2c349 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:59f6cf3f-8d0f-49b1-ad6f-57b13e93715d phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:990e1917-0478-40ec-b0be-16b1b2801f45 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:1c6a9839-33d4-468f-ba90-5b8ddd2f0930 phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:07cf4da3-40e1-4f72-b54a-835feebfdb99 phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:16965330 uuid:cc93758d-811e-41eb-96be-10c5529a16c7 phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:16965330 uuid:da472108-9af0-4927-b803-4cf70fe39bc4 phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:171aef89-5726-405f-bb86-79a45db64920 phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:f6ed1364-6337-4a0a-91ac-f485f5d72370 phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:16965330 uuid:a95ffb4a-83c3-4623-9ad8-6b710ea0c6a1 phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:86250607-78f8-4997-a1de-8d4d3d277f79 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19758376 uuid:d035573b-9087-435a-b01a-6d8ec022525a phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:19758376 uuid:838337a1-6b96-402a-8dc8-a96a45d07a9b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:a9da2abc-527d-4c33-a1a6-e058608efd26 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:6b63a025-efec-4eda-bdfd-ae4039a553c7 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:a4f5eda9-3660-4415-8338-fa9091768d89 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:48612e81-2cd9-4df9-94e5-54237b826d48 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:9588048c-e173-4c25-b6f9-b15001f22189 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c28f07eb-2327-4111-831a-ff20dc9ff2b9 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:b52501e2-e044-4f03-8dde-c7b71a9c9f7c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:57032d29-6594-43e2-a8c6-ba835aaf895e phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:408b20ef-2f93-438e-9205-47969c5cfaf8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3457c7ac-4d5b-4941-a9b4-9ba091c10693 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3daba982-c258-4ee9-b615-42f335202fc8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c0efa06e-1044-487c-b2fb-860e0b05d08c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:437be237-ffcf-45e4-a562-9f719e56bfa9 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:40419a77-f34e-4e2f-a532-8e42f6714da3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:6a9f7b86-dbda-45a8-83db-5becc92d895b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:9e4343c1-5fad-4964-8a46-733120364d4d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:4d70a490-a6c3-4e02-8463-5440cbfd02cb phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19758376 uuid:b6c4e9a2-2449-4023-ac98-99221bfb7a59 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:ecb969ba-eb98-4c78-9aef-fa359f9baaae phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19758376 uuid:4366c7ee-9eda-4b70-ba8b-7ecb32d87e81 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:99a0464e-4300-4428-8310-ebe881900765 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:76202d90-b144-4888-a37f-cba8b35d9bee phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a4fb4629-0f1b-4233-afcf-06652a56e6c6 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:501c273e-8849-4082-8d38-a656923dc5b3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c2d5fdb2-9661-4cf9-929e-5e9e12e829ec phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:67658cdd-a7d5-4c34-8b43-618e03f53aea phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8b5e6c3d-ada4-4caa-abb9-1f76cac1a5a3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:b334593f-57d4-4c39-8c06-73755bdb2d38 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7c2bb82a-227a-4038-a3c5-a170d832c1b3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e7b5c877-946e-4ce6-8940-0fd536d1fd60 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8d5608fd-f69d-4952-ab6b-cdbbfae595d6 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:cc09812e-2e78-4205-9871-8a5960825c0c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e262a481-aea7-4f3c-b6f4-c446940afb93 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:37b05330-5d3f-494c-b869-a2ba1424029b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:09934daa-dfc8-4535-bea3-5a68ba0c82bd phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a1b02255-8ccd-4baa-ab08-e8253fa2dbe6 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8d9115fc-b045-49f9-acd0-73044e36b984 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:41488006-0145-4c22-983d-ee2404aa520a phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19758376 uuid:d02e93b9-7671-4b74-866a-8745520fd39d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:ab5562a1-7eb6-4808-a53b-da85c3f3824c phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:18616706 uuid:de3c474b-2ef0-4cd7-af21-709a7e98bf07 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:766350a3-a55b-4e54-a93a-113206143ca9 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:18616706 uuid:ad204e68-e5b5-4dd3-b690-a08680c992e3 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:ccb4e2c4-e56a-4804-a7ef-bc9b6cd8da80 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:c8557be1-8509-4f30-bf08-315cba046de8 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:d0db8d9d-7a8c-4a9d-b0e8-670fa432a9c7 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:58c9582e-3b98-4eba-91a1-9fa5dda9590b phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:27d9698d-253d-43a3-853c-9af0a0632e10 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ea736819-55c2-478c-bfff-e1827b8d0c34 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:51c9b604-083c-4eb2-92e8-94e4890345d6 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:7c66e511-1fdf-4f0a-b76a-edc4857e1e8b phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:e994fb6f-1c47-4f9b-9a55-9c9b998ae602 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:bbe36d3b-f4df-471c-a7ab-0eb734946255 phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:18616706 uuid:15e11648-6fd6-49c6-8965-657d20eead2c phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:c1e7157b-ee6b-48a0-94bd-12dc9f3d778d phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19758376 uuid:a534b8aa-7231-4c44-bb37-a6d57203d78d phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19758376 uuid:ff91be39-008e-4176-8c00-82b45d238940 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:df44c910-85fb-4377-9fe0-09bc42e188d9 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:dfc0f8ea-f414-46b4-8a22-1fc6b929a14c phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19758376 uuid:2cc5d0be-ae8a-464c-b176-0dcdc1010c42 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:1b1a3876-75d4-44ba-99c8-9e4645c05216 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:2304dd4a-cf70-4b54-893c-91f4381c1139 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:a572c0fc-ecec-4f80-b638-1c5ff53e3733 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:5d978e0d-b723-42c9-b67c-6c2091c744d2 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:df74bfbd-c221-46a2-99c2-3e8fd1d987dd phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8594e534-01b7-4a31-8779-1e6e63575924 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c95793b9-0ed7-4d36-ada5-44d7d5016e7f phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:dd909595-24b8-4879-a6a6-21086a7495a1 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:13f5728f-380c-49d8-a2f4-4d61ad517995 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f31b326b-6655-4987-9ad6-b66d19f40e27 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:33781558-3b32-4d3a-87ab-29c910d0bec5 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:cd7f54c6-1a90-4db4-acb5-e63cf00fbbfb phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:ccbdfb24-a45d-445c-95c3-ba68eae18b1a phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:6f4a63b6-61c3-4865-908c-edcb9473a1c7 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:66c71c28-0434-41d8-84fe-28d303e5314c phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:c1ba92e8-270a-4453-944e-93f5b45582ed phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19807739 uuid:3d0b0cce-ab5f-46b9-b2f7-322e4a116554 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:19807739 uuid:271da035-4749-4c35-85e6-0026dd52a071 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:19807739 uuid:fbd24d63-0df9-4ecf-93b6-0ef65e09cd09 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:a7377aa9-94eb-4888-86f1-eda306e8edc0 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:4edfd5d4-95f7-4f10-a572-4a88931454d0 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:65afd330-2216-4503-8066-955b3f071f46 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:a33be59e-8413-4e95-98a0-03ec364538ca phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:fb95ca63-cc01-46d9-9d64-c2bce5c38956 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:e39de239-9f5c-47b8-a26b-db865181a990 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:3d24dbd5-575a-4ceb-8ed1-cbc69a0d70bf phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:269eeba2-f259-45ef-ab0f-851b81fae4fd phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:9e3a20b1-77ca-49ea-a5a8-3a7fa245793b phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:d3afba7b-2fd6-4d4c-b52d-75ae2cca2b79 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:bf0b3451-dd88-4c88-95b8-bb7d7a0bc4f2 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0034055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:cb08277e-194a-46fe-a5ce-5b0a8780a67c phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fb815e6b-9b8c-44a6-97ce-02448c1a642d phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:38d4a4a8-2eb5-4acb-b4de-f513f3b9c87e phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c381d7ad-1ab2-4837-a315-8e5ed02c9bfa phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:efbb04ba-fc5a-4e10-a1b3-2182ccf6187c phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:d6709c7c-c9ee-416b-b8c7-524f96bfa5e2 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:29d783b3-d1af-4240-92d8-4a8e7d469932 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:97f58385-d95f-4031-aa49-9b7461572fb1 phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19807739 uuid:c2c511e6-a4f4-4ebd-831b-19e1acd89baa phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:00850868-3755-4867-96bd-cd10a3c17ade phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:16965330 uuid:7b74167c-7cad-430d-a0f5-670378a3f0ec phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:41a10a1c-4170-40b0-af56-d2eae765f807 phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:dc8fcf51-b642-4ecb-b82c-b8842f45cc4a phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:d84b76c4-7c75-4133-bbc6-f2ddf4f20081 phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P5Y6M infores:phenopacket-store PMID:16965330 uuid:182a9b95-a310-4bc5-93f8-af5e67b0728d phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:d4fc6499-7494-4225-a729-763370d15532 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:62338e44-0148-4952-83e2-4cfd105dc8f3 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:31895c35-a058-4138-a30e-e4b003a5d5cb phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:18616706 uuid:6e444241-f2cd-44b4-9ea0-0a2fd8a09b38 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:26a7b0d1-4217-462b-91a3-96d0843f797c phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:55d40fe8-f60b-47a9-99f9-50669c7f78cf phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:840f2bd3-6231-4c28-b48c-65dc2c2cbf6c phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d69b0602-481e-4d15-9266-85e3bd0247a4 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8d7934a6-cae8-4f7a-bb08-c1d28dcfcfc5 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d18b6532-999f-4f53-8726-d20233851b42 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:acf492f2-d3f8-4694-bd67-7e762a174a7c phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:72d54897-44af-4400-9fd8-ad904a8ebfd6 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:1af7f6ad-01b3-42c0-8f1e-031e4dd77571 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:41364b4d-f5fc-43fa-aa58-a646c87dbd03 phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:cbef6fb8-2380-4c62-b30e-25f91b3d1e7d phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:012457fb-f1f1-4c12-acea-99a35942434f phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:d4a2b92a-3f68-4355-b58e-9f1320b07469 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19807739 uuid:511dce3b-7d65-4dfe-bce2-5811b53d196d phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:b024044f-af43-4d54-bf7d-e67e4a898725 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8afa3ed9-da09-4d1c-8f77-8d25de947932 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1891a356-ad7d-480c-bd94-45c70361518a phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:62cf3ad5-88d8-4782-862d-8d3023b2f067 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:13e79781-8b50-485f-b3db-af7a7ddeb2e3 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c840e44b-b9fc-485d-b1be-91cd4e2fe643 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:11f13a2f-2de3-479c-90f7-bf602483e1cc phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e97fd3be-7e07-4acd-bc4e-27455722fa35 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:386c7ca7-90d6-4079-a1ed-66edb8d45955 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:756d764e-5e1e-4b6a-a02b-6d45869741ec phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:fba57b46-949a-47c4-9ae6-01a7d827dab6 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c2e9fe10-2ad6-4585-9e38-09c1aec2295d phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9414c318-df0c-447b-9a5c-df8fa80b5611 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a5622246-fbb1-4a8c-a733-fae7c02a6d7d phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e6043cff-9cbc-4ca9-a623-22cc29c41cc7 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e2e2bb56-12cc-4933-852b-9ac96faab466 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:bef83000-6750-44a9-b5b0-113b2dc942d8 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:19807739 uuid:f1aee091-3b63-4bbe-8b10-b67680bd5142 phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:1ac0d2a3-13e1-4b78-9edb-e97d9e7e0adc phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:7f7ac99c-eed9-46f6-a453-b7e1ac2db3b5 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:b56c7f76-2a39-4d8d-b418-3f847b59cbfe phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:01ab4d8e-8e69-4be5-a35d-a404c7495fa1 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:adbdf29d-452d-4241-91d9-9439499a9d4e phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:9e0c0c4a-2da1-4009-bdf2-7c8a000bd607 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:5042a407-e354-4054-aaad-c06d2e9c3287 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:eceeb8a2-877e-4d10-a071-27079428eb07 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fe01b305-e519-4029-bfdf-4b59dd6e1ec1 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:94646aeb-83ef-443f-a961-4cace3c08146 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7962ac84-ac4e-4b57-a863-e42db9267e2b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a5168ef0-87b8-475b-931c-d0586e5a323e phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:751c82d4-1b74-4bb1-b61f-02d831ca2880 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:4b087c5e-9b39-44fd-950e-766af0b59e86 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e262796e-fbf9-4692-b4ca-998072840dba phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2448af04-278c-473b-8b6a-e99ab660d63b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:33925695-2315-41b7-afc1-f134d831315d phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:d7e364e8-3818-4613-b585-935c993da613 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:12776d62-7111-41c7-9d8e-14cde2387a42 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:20f5bfe8-1be4-4284-bd22-dff8ec25dc57 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:f419ee71-39a7-4246-b1df-de0c8de5fe00 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:69765f6e-d594-400f-816a-e4351e5cb5d9 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:22024611 uuid:274d29cb-ce80-4ccd-8168-71e84786a558 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:22024611 uuid:a0756451-fbaa-4551-bd1b-dca6373c9f80 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:22024611 uuid:88f1521f-2349-4a1e-bfb1-a7100433f58d phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:22024611 uuid:9204d25f-85ac-47f0-853e-4e05265da183 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:22024611 uuid:3b6df9fc-53ad-4ce6-928d-215a1cba6aee phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:22024611 uuid:6c664dc9-a261-4b3e-96be-e82f154bf7e8 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:22024611 uuid:69aa5f97-0224-410f-b34e-de457f4b6a02 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22024611 uuid:a38f4e48-82b1-4a48-93b2-a8e3e7ec6294 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22024611 uuid:47638f66-5e30-4559-9194-a2a6bfdad3c1 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22024611 uuid:010c4c23-8378-4688-8ad5-4c31c7f8f7db phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:18119d63-f63f-4b12-940d-f9a2bc454ee0 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0002232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:be21dcf7-7d07-4f00-bd4e-3047493040d1 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:591e518b-9d34-494d-b646-3fc56df7f30e phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:4a50311e-bae2-4bfc-a0ff-193616af3ad1 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:31eca812-edae-4b9a-a35e-1264c708dce1 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:df24815b-ee85-4966-8508-24adbdf54dd3 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:1dc54854-91aa-4e3b-bf00-362c778445e0 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_phenotype HP:0034189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:39d44d0e-c494-4c66-bf3b-563ae5be8155 phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:22024611 uuid:1a065259-9d10-45ad-8767-b0285e2fa02f phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22024611 uuid:fcd50fef-d1b7-41a4-a8d2-dc9303b01610 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:18616706 uuid:18633b27-4368-4222-8f5e-16f4db9d4c5c phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18616706 uuid:bc3ea7df-b7a0-4682-872c-3458602b5be0 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:18616706 uuid:79091345-e945-48d7-8f43-c49991593bb5 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:4e4a57b5-4f87-458c-af0e-76db9351bebe phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:b1716639-99fa-4324-91a6-64abd82ff19b phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d3d12a6a-5998-43ee-b550-42bf2e632aa6 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:42a29ed5-8ffa-4055-bcac-d46b11aeaa99 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:adc02d49-5571-4db0-8da7-50f6db37da99 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:80a827c6-e31e-4166-a0df-78d2c5d2a036 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:e31c9f33-3fb6-4c57-a8af-c123d868d372 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:7e532969-f2c1-48f8-b89b-ca8ccbde049d phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:0e133882-50f8-4527-a111-5822497a3434 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:93b1ba07-6795-40cf-a801-5b8fd4dbbfae phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:18616706 uuid:7983d244-1527-4b03-a5b6-d944bb8fc165 phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:4b3f88ae-fb99-4695-a315-265ed7302449 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0002232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:22024611 uuid:1bd132d6-ff27-4ebb-b5b1-f4161502af0d phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:22024611 uuid:457ba857-5343-4348-9828-32794c1430ce phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:d082958f-0610-4f64-a288-28201ae6f799 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:c77d376b-7955-4547-8d3c-a70639ffde7e phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:cbb7ceb4-caf6-4435-925a-4787202a332f phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:b2e47c09-4cb1-4d94-8b58-416dd96e0834 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:3a73b951-e89e-47eb-9972-c9ee2ed96a9c phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:c69427a8-9849-4e4c-8c39-7a0ddead1c6c phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0034189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:22024611 uuid:e78d0468-8e0e-4c23-9f0f-5623c91d7af9 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:22024611 uuid:5189dc9b-ead3-4254-aa7c-3f32d3c19d26 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:22024611 uuid:bfe88405-922c-4701-853e-3888a2a4304a phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22024611 uuid:5fe5b035-64cc-4fc4-99e4-da494b9e3070 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:c252c628-d3de-49dd-bd6d-70eac17ce91f phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:e1bf915b-a799-49ea-b22c-069e86a942c3 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:90d98647-c289-441e-8eeb-b8a774e33506 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:e8a1db0e-8fca-4832-8f39-8e10ee8cfafa phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:efcf658f-e7c9-46e0-bd46-58eeef5eea58 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22024611 uuid:d8f2a6be-5b49-4b38-b2d4-22d69a72fb64 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:22024611 uuid:2117d14b-ab7f-41b5-9686-9af1ab0837e5 phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22024611 uuid:c557fb50-2059-46ba-b170-7126d56d2168 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:18616706 uuid:7afe17aa-b8c3-4b67-8117-5a4a47864fd6 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:18616706 uuid:4cc4544e-ff54-4bd4-8a14-84839b72134f phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:518686a1-7935-4dfe-a20c-356997d7b335 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:9dbb0a6b-4c87-4735-9a63-6a711d3a17c6 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:9e99a928-e9aa-4d5c-8608-6580b2bd8520 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:be50dae1-9d49-4482-985d-761cb35bc9ad phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:ada2b8d2-0c57-42da-a197-16d0de3c1008 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d0dba279-af59-4339-87a8-d466685b1851 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:e327f163-9016-43e6-ba40-01be9fa4e352 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:3932bb99-a984-4145-aaf3-9a32bd9d2995 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:b6cbb8a9-39a9-47c0-b9b7-da6095e64670 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:68db2f87-8ece-4f68-8a94-4694cda461aa phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d8862d52-d75d-470d-aa38-68a20534c453 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:21a53688-81f4-4432-8c55-7fd7c49362ea phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:9e5af833-e0c7-48d8-bee8-9ca2703b5b12 phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:55345adb-2a1e-4ccc-9bbc-181a48b5879b phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:16965330 uuid:d62682fe-0b3b-403c-9355-f3ab3cfaed2f phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:16965330 uuid:d2d3c77d-95e2-4fa0-8b46-dbd146b68f2a phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:2477d1a8-c104-4e11-8b06-95d3e055d12b phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:2bc520d8-137d-4ce1-833a-a562e81dea57 phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:4350fc4e-0a7f-42ed-8b41-5ab148b83ade phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:16965330 uuid:bdcab6bb-989b-4d4e-a50a-2e7a8ac30ef4 phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:d487814a-09bd-4f56-b2cd-eb3f6ad21be3 phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:28540407 uuid:88305029-8689-4ae3-a993-a52b9033219c phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:28540407 uuid:09a6027a-e456-4085-9407-047ca167c214 phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:28540407 uuid:830fdd48-d502-494c-9230-615250fd8292 phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:28540407 uuid:ae8cd3bd-e892-45ad-9f46-bea1c27d19a7 phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28540407 uuid:797e6336-60e4-47d4-860a-f720ce79ffaf phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0003472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28540407 uuid:f3d92b86-3b92-44ec-b182-667ec585387e phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:28540407 uuid:cfd4895e-8091-4a87-a19f-4058c72474dd phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:28540407 uuid:08726c12-365d-4520-bd91-f396f201fd9c phenopacket.store:AIRE.PMID_28540407_index_case biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28540407 uuid:dda3311d-aabf-4fec-b895-40c4839712ea phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16965330 uuid:a09ee7d0-c5b3-4f7c-a373-2c89b10f55f2 phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16965330 uuid:4c34d114-c8e8-4be3-a602-0d32840c1293 phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:86618741-dd2c-46ec-9ac7-d7d8958ce8f6 phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:56524675-4636-4593-9fa6-02adc39b2daf phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:16965330 uuid:9137c62a-4b4f-48b7-99de-6fc534ee9e90 phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:48f4c434-7a31-4550-9757-c27e1392a7a4 phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:18616706 uuid:6c947bd4-04f1-4b72-90a9-21037683f74b phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18616706 uuid:b1ab3572-7d81-4483-9c01-90a844d5d35c phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18616706 uuid:14400494-0a41-43dd-a440-5108d797a88f phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:9aba1a67-621f-423c-8e5e-b34668eb3206 phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:7bef05fe-1f22-4b5d-ac34-4b1a9f61751d phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:f16c60e2-ee24-4ce7-94ff-0cf43920facb phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:f57e7d19-40c1-48a5-af3a-3498f62e72b5 phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5bb2b48c-5307-4a36-bb16-ea48a729521d phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:7d6b8d9d-a3a1-4de5-b1b8-1edaa5dcca0c phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:1bbe0e3f-851a-4621-87b5-a11a870b61bd phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:6fb54f88-6156-43d7-bd3f-911e646b12e9 phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:007bdce9-a609-4ecd-ad74-b3f5a4f0faab phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8170c9b9-109a-49e3-9ac1-aaf5d5c9da3e phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:18616706 uuid:228cc0a6-711c-42a0-a66e-0c20841b13f9 phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:b7c6e553-7f6d-44dc-bdbe-d09781e0bc13 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19758376 uuid:af006a04-1275-4991-be10-0c2b77537fc1 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:aabfad6c-c796-4dcf-8dd3-198b80ab570e phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:19758376 uuid:6f9322bd-98e4-47dd-a4b1-670cd658eeef phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:19758376 uuid:d37f01ab-65e2-48fd-9db7-9849cd72d53d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19758376 uuid:c559118c-d106-466e-8f63-72c807577c23 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:19758376 uuid:b0f3964c-bfdb-4d6d-8cee-72bbbe13f54b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:65d20c0b-cbd7-450f-aee1-2d8b1da346e5 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:5a08852c-7941-4987-aac7-c1007b989557 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:debeee27-8bdb-4d7e-a109-eea52375f671 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:ae0fe249-daca-46ae-8890-792f9fe792a1 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:3bbeafcc-2bb7-46cd-b97d-6a85e7e73473 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f38f9911-2696-48a4-bc49-7d0fda4e607a phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:34e9cfae-5540-4043-b01a-6712b13730e4 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:29bbb2aa-5f83-448f-aa0b-bfdc170dffae phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:459a999e-b7f7-4c65-91ba-9d3e9232f85c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:43c1d2db-063e-4de4-a12a-1662a3dbfd72 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:491c8d35-69aa-458a-af62-a056e48c96c0 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f2f4132d-a4ea-4cfb-a03d-79bbe3a23466 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:4f9bee28-9667-46b8-a0b1-49a5d181a9a4 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:29ff930a-6ced-4eb7-a10f-9e3988f1c69b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:824ce113-85fa-40ba-97ca-55223aef194d phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:18616706 uuid:31eb27e2-1348-4436-9c19-a44a2db442a4 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:18616706 uuid:17294f13-9ef8-4733-a08d-25ca2895cf06 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:18616706 uuid:ddfa5d81-f71f-4062-8956-c5e0e11f1d1a phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:689c06cc-0cf4-420c-808f-2d52d80f98ae phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:19dd8fe8-d996-441c-9c54-b10b45b0132e phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:0012cd58-8b90-4578-a728-d5e1fa561285 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:03ce4adb-dbff-4c77-af95-8ed81ba0cd09 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:a99aa5f1-138d-443c-b7d7-6402982b4d9f phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d53ff589-194f-4d22-bdfe-5b01bd6c79ed phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:40881308-8380-4d5e-ae78-f6bcd5f22465 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:bbe3d0c7-fd84-42de-9145-95f40e352efc phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:4581bc7f-6f3d-4e75-8b37-c375498efa09 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ef02d193-5d63-40dc-947b-d72023495320 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:18616706 uuid:4adbc9cd-6bfb-4c26-8e3b-9910db46bd32 phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:f92a987c-ae6c-4925-98cc-1ec52dc7a6d2 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:18616706 uuid:8cba10cb-01c5-49ab-9650-a1db46b4ed53 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:18616706 uuid:8e4c4a9c-21a6-4b76-8046-54678e583152 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:18616706 uuid:2ac4f545-cd60-480a-a780-52fa6def0992 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:9df91700-a2a0-4f92-bf28-895981b42015 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:d0a1f263-7df5-4abf-9cea-23c1fdbdc41e phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:219657ec-a330-4546-ad41-b4471dc67006 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:49455602-0e9c-46c1-b1d5-1a4497bcaf70 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:0949d07f-3052-4a0d-af2c-73bb9040c980 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:cb6847b7-e08c-47fa-ae16-d0d2719f9b10 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:50555295-87c9-4c81-86e4-d53bc377b957 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:776ea5be-5c75-4b83-aae6-c88658b76a92 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:a0df1d0d-bb5d-4afa-8902-cbbb82cc59ad phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:29c590dc-e47a-43c7-bd59-f864a78b5d21 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:13f5b617-9eee-4dce-ab7c-9ceb2b42f63b phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:18616706 uuid:baa8968b-dce8-4907-88ba-a827a275b2a4 phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:edd31b08-a5f9-4a9a-9ce1-c081de54e022 phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16965330 uuid:66c3d6d3-33a4-4e37-9fe3-9fb227019b0e phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y6M infores:phenopacket-store PMID:16965330 uuid:a351d0b2-7b25-4f4d-8969-c86d7edfbff7 phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:16965330 uuid:d7529b83-7844-48cb-b90b-a117c95cec6c phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:3da850d0-3ba0-4e20-b906-645594de8616 phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:390dd716-684e-4300-b6b0-63c934a15a32 phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:16965330 uuid:b91a151f-6c35-4a86-902a-d0ff4df8caa8 phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:763bce32-9745-47ab-8575-69006626dec8 phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:16965330 uuid:f28da7a8-c597-4669-8dc2-82379a1a3996 phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:16965330 uuid:c51ad35c-4088-4dee-a24d-c515caec65dc phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:f4345e8b-62e4-4e6d-a191-3178d3f7cb93 phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:06a82067-f7dc-4776-9f86-b7a80be66ebe phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:46b3c065-fe56-4bc0-ba99-85e30ba5e9f2 phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:e86c84d5-13f2-46d4-b740-142a1f6cf8ea phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:16965330 uuid:75ecccc1-782b-45eb-9fce-f7bddfed7d17 phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:a783318e-e79d-4b1e-9358-57b88cc831dd phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:19758376 uuid:c42f94ed-95af-4f79-8299-e3d5871c430b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:331aaebd-7a1c-40bc-a2a8-c8d6ed06325b phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:7d643933-4db1-410b-be8b-7f60c29060e4 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19758376 uuid:f462fbb2-f2e9-44a4-8d12-839da5849efd phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:19758376 uuid:1fcf8ca8-9575-4de7-a0d1-7eceac1da30e phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:19758376 uuid:33577b65-ab93-44ea-ba34-ebad06342875 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:19758376 uuid:e694b67e-b7c1-4e21-97f5-6ae45e654542 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:c85d6423-e51b-4503-b040-6825a1e263c9 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:59af9d5e-5e85-4630-a930-070b2c781b30 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:34ed0213-b170-443a-821b-d9362d7b6dd4 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:a36c01a6-d2a2-4275-9bd0-84eb0fdc9b60 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a57eb0e6-76e1-4366-beb9-c7218842e224 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:37e1b245-e93d-45fe-97b5-05b81a67e518 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:2345d9e2-f581-4231-9054-2741e223d643 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:ffa551c6-30cf-4620-a109-32a5be0df420 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:6c67851d-054d-49cd-8bc9-0b36c87c0201 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7bbe37f5-4332-4c1f-9b65-82085982fa8a phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:699c38d0-f258-4e10-8a7f-64875d3e48e4 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e055e3ef-7133-4e66-a123-1a29a276cf79 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:685bbcb7-96b7-45c6-b78f-fea1df0df7b5 phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:c30f06ba-fd59-4023-a920-3e2582e70399 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:51016b4a-a5c0-496c-887e-8f80c164ae1f phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:18616706 uuid:36104813-df46-4986-b594-4a57c1a35c9c phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:18616706 uuid:0d2cfdda-ed15-4fc6-b899-d1ccf2e03b51 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:ccd1fd19-0c9c-4099-96a1-ac010f613594 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:2b65f49f-7ce5-4a60-b675-bf2fdbda5db5 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:ca40b22c-e3e5-4637-968e-348b02576361 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:4c1db337-f0fa-42e3-80f3-a784dc2475f5 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:c3246b39-dff8-4666-863d-71d1c1ae773d phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:266983f1-b483-47e3-b354-d5217aa079c3 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:32397a2d-f8b2-498e-b1e4-9854baeffcb5 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:1351d990-3ecc-46fd-9c0f-d508210e5a69 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d1681109-9edc-42d7-b157-ebeada01c3c5 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:351933f1-6af9-432d-a21a-a232fdf6c556 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:18616706 uuid:8f895ebb-e880-4d2b-a5a8-7e7eae0dcb66 phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:da0cad6c-ca8b-4aad-8880-dc49501bffd3 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16965330 uuid:a30e0f90-a393-4a81-ad44-3cf7f29e28f2 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16965330 uuid:9e2f0757-7ab9-4c6e-8740-6a4454791549 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16965330 uuid:6b1bc6ce-e490-429b-911c-c6a6aaa5447d phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0200120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:35365c44-22c0-4106-97cf-f903d0ca3b9c phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:5809b00c-02cb-43ec-add4-45c72a50c7b9 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:16965330 uuid:45ae9232-c65f-4f39-8029-ded8e8b923b6 phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:38b52d06-f85e-4d2b-82bf-ca4e35ffa448 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19758376 uuid:a2a9ee30-b075-4c78-9c5b-8d67c3d07c42 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:19758376 uuid:5083ecd5-05b7-494a-a700-511e09922e6b phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:34278f86-548f-4f19-900d-7cab47bc5dbe phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8d773df2-d980-4846-adfa-e902fe91da6a phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:207849e1-bb33-4735-9236-09a41ca26ca3 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:58e4c895-7ce6-4612-b8b4-2172b6388dc0 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:69cfe327-5c4f-47e3-8765-55339ddcf40b phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f0fe56b3-66c7-47cd-8b0e-bd34fdbe755b phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:e1a3fd99-71cd-4481-a36b-df62e73c8eb1 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:26d101d3-94ef-4995-9ea2-8982c82981b9 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:da3bcbd9-868c-4458-b728-49ae4b41871d phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:40fcc48c-50ad-4b1e-bd70-e1f7bddf69d5 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:02c63658-ea36-4bb3-abf3-5b20c28e1000 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:17c715f2-5b16-4bee-b915-88913a8602b9 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:5cdd381b-8d6b-4138-b123-f2f5832bafbc phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:8ef3c23e-6211-496f-9eb5-d086097c3951 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:882dbcd8-31fe-4f28-a649-8611ed998de1 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c8763a14-7392-42f0-bea4-69394566301d phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:379257ae-82d4-42eb-87ec-bc985560be52 phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19758376 uuid:a06e08fa-5db1-4244-859c-d24a52385ecd phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:47840a29-bb0b-4c06-9ee6-627ce6895b25 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:18616706 uuid:8f67d92e-55da-4d5e-bc38-f7e4410f9c16 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:18616706 uuid:bf08f8cf-c6df-46e7-a51d-bcdba4c7a46d phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18616706 uuid:d64057af-9b6c-4473-942e-1d1530dfc485 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:eabf9d2c-9790-4439-8ee4-5737ebf33b81 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:4c95e6e4-e426-4bd5-871a-ac5596e58056 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:fedafbcc-e4ce-47a2-96e4-e3c42bf0cbc1 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:38267677-be13-4b94-a239-865f84e8a262 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8d5907d8-9f5c-48e0-ad71-f4c4e4788832 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:6d243167-58ce-48da-8281-838a0af61e44 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:c46539ec-c4a9-413b-8a2a-28c8f09cf574 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:61a688b0-3a50-4418-998f-d2f6748e552e phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:77cf7000-929f-48de-bd4e-118a0737d3a9 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8b871e9f-6b1b-41e6-8010-50fcad32a84f phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:18616706 uuid:a362a274-bf31-4a59-b163-f8d6ce5f10f4 phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:0a91211c-8914-4e7d-aab3-19bd832a81fc phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:18616706 uuid:0f8383c7-6d64-4a49-8ea0-9d57a893e0c2 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:18616706 uuid:dcdb33ba-8f58-47d4-a7ea-47a575a0991d phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:49f8f8ab-ef2f-4940-a5c9-bcc96e38830c phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:671232ae-0676-4c0f-b254-ac31f2f1f0ac phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:f81466ce-975f-4a00-b6d8-cc91c6bfea8f phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:e2c617c9-cf57-490b-a594-eee4530ae3da phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:e703d5c7-bc1e-42a2-ae29-269b5ac95047 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:53677fd2-c1a4-44af-ac5b-c9082f91196c phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:065fea97-7793-4af5-bae9-f3e99ba65200 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:e944dc2a-0d97-4278-a49f-76f1eb5d92e9 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d1134dfe-df48-45e1-9089-de10151c49d5 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:8c37aca6-127f-4103-9588-5ada65012396 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:18616706 uuid:7f2487e4-4ed4-40f2-883f-43ecfe263b38 phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:a471f273-db8c-4340-b5b5-e235785d511d phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16965330 uuid:51a37731-afb8-4c6c-b3dd-8a1d85c6e175 phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16965330 uuid:2b4fdc66-47f5-46f9-a22e-0d3c59c580ec phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:bc9792de-5e44-46d7-b583-cc9a4294dcb6 phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:53e046ed-e8cf-4f5b-8dba-239426660846 phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:16965330 uuid:ded5199c-88ac-44d5-8fd3-265bff226915 phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:ab61f749-383b-4246-8252-82a8e5b2d732 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16965330 uuid:35b6c8fe-99bb-4fb0-9ca0-cba78a3407ba phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:16965330 uuid:96cf379e-63ca-4a3a-bb50-82b7e2b65976 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:0e772a24-ec24-4042-81d9-bb1ec4835940 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16965330 uuid:5f248f6a-bd82-4c77-85b5-29151f93d3c0 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:ba8c0ae8-bfea-4ec7-adfd-73e1ad2f8b11 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16965330 uuid:c61a54d2-82ed-4080-b054-de85957fbd70 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:16965330 uuid:504ea6ef-7f81-4962-8eb9-2bc9ff11ee05 phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16965330 uuid:dcf61aed-3f4a-4fec-895b-6159244ad50f phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19758376 uuid:8de708ab-dd86-4d26-b093-3f99723472d3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:117c932e-7630-4159-8200-1a079a0ab82b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:19758376 uuid:dd02afa7-b367-43d5-9412-0198aa83f498 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:19758376 uuid:5e23d410-3c91-42de-8b5e-79247c3002a6 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:19758376 uuid:99999b87-f4e9-4049-aa8b-a6d5c33dbc33 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:26bb45e5-b75c-4e0a-a754-861c740dfed3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:89aa1928-7c35-402e-90d4-a55c17d4a02d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a0f3014e-c08a-4cfb-a168-734911dd2625 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:fac6596c-216a-4bf1-9971-f272b71aeef8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:1db8d428-3a47-4318-b0c8-79aea17bb208 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:0bcebfb8-1f5a-4b41-b5a4-e7288603f900 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:02b92137-e5dc-4846-bce2-78700aeea082 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:48159b10-4258-4cfd-b184-2466dbac069a phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f05a2974-dd95-45e9-a8c0-a9521ed9cdf3 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:cf3f8d99-a553-4b9c-8674-e061d41077ef phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:ec12d82e-534d-43a6-bc5b-86c6fdd186f5 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:9b97c431-9a52-4480-bb5b-1209ebbc8152 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:70473185-1578-4a8e-8203-0fabe0e6c59c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c7e5e78c-b725-4615-aa1e-116827e81e0d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:6ae15d4b-204d-4a3f-900b-a017774f719b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:314c0e85-d769-4424-a4f9-e11fbcd9b552 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19807739 uuid:1a110d3a-99c3-441d-88f1-33305a323489 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:19807739 uuid:3658cf97-097e-42f4-897d-198b304ff3d0 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:652f4322-a4b5-4251-83ff-d3514465a7d2 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:ce38b9f6-46e3-4ed3-aef2-b8c3a060c18b phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19807739 uuid:6e65ca66-0eef-4c95-9b7b-e1be6bf0fdb1 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:32e753fd-3e17-4110-9daf-493b1eb3014f phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:7b7c6416-3eb7-4cc3-ba04-c5edb8304ac4 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f488fa9b-fe41-467d-ab6d-197cd52bc71b phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:cf03469a-77a6-4b5a-adb6-107797a539af phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:206437b3-498b-4d11-8840-71a2bbc0a28e phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:b4e9bb0f-7190-4283-806a-2fd9d28fc81c phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:42f90158-f72a-4567-a736-ec5d8ea35f7a phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8f588a21-22f6-49d7-9aec-17c3fe8f5bd4 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:07d39b8c-2ec5-40a6-bce8-50566df06bca phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:4ea9d42d-005d-407d-b8b8-07fd5e21f03d phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:a2b6cabf-2599-41c0-ad77-caf12123a951 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:40e138c7-a1ea-4ffc-b806-652289ff854f phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1b3af8eb-5936-4512-838f-95bdce917876 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1eecfe57-82dd-421e-a317-87442caffd7d phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:eb0c9ab1-a193-4346-8487-648f1bad3aca phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2ce9a747-852e-4309-af3f-326b0f6f0203 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:29a303f9-8340-4ea9-a43e-ffb59a05e9a4 phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:19807739 uuid:e375f2c1-1abe-42d8-9b01-e4ae53e991dc phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:a505e5a6-6684-4fb4-b686-ed1981aada03 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:19758376 uuid:1abd7430-ccff-4c43-9fb8-29b21dbd9a3b phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:19758376 uuid:b26c7cbd-6e15-441f-b06b-fb8b6ee42bd9 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0031817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:6e85631d-464c-4b94-92b1-083c439df490 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19758376 uuid:886af530-aaa0-45ec-a308-ee106270f3a8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:86829a93-4f8b-496c-ae92-e77b58d31fec phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3243ed6c-dc7c-4d0c-a126-c9a50e057139 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0001094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:d74c2279-fd67-408f-95d8-725461c22d8f phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:3af76dee-c4f5-43f4-95b8-a36a784ffc14 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0001096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f2565c29-f695-4b14-a4c1-ec9ccdc02b4d phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:c1315859-4e14-4ae3-bdc2-6cd2150eeac1 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7f334ff2-ac61-425c-b1c1-c6ab7af64fd4 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:7b0af801-a049-4bee-90a1-eea7e3f20da9 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:717d8e70-2d21-4202-9214-73c7fabe827c phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:5dac92e5-fe8f-45f8-87e3-786fd1c1c565 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:a5007a79-8542-4896-bd4f-d96beb4582b1 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:1d84e47f-4678-405b-a629-b44a429df7da phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:d4646a7a-5994-4573-8835-21c503ba5f64 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:4000030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:f3a462ee-7c54-4001-b4a5-ff3a36ac0507 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_phenotype HP:0033637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19758376 uuid:acdbb645-52cc-4b33-9bb5-38280c3bdffb phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:19758376 uuid:48a1518d-4d30-4644-a504-710e79fddff8 phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19758376 uuid:89a2d8da-986b-4e2d-9417-2916fca228ec phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19807739 uuid:a45abd4d-59f1-4264-8659-8d872c2ea223 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:19807739 uuid:be2d0a9d-43c6-49b9-9364-4ac06d7f4b33 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:19807739 uuid:c165a239-5ded-4b42-ac8e-353767103dbf phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:ff4bf006-2ed9-48a0-b5c1-427483832643 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:90619ea4-1aa0-4f4c-a6b6-fdd2f5e4d16e phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:9b5a7211-6743-456c-a881-154894e7ab1b phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:869f1bdc-b63d-460b-8eb1-064e62252fec phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6cdf33f3-bf00-44ee-91eb-3a34ab67dfff phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0001803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:b66ccf1a-3327-4e52-91e5-4c997e15663a phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:24dbe26e-951d-472a-a0e3-e66e72c3e1ff phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6af08c6e-9a37-4802-99f8-93f24103eb03 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e7d86166-9c0c-4d22-8766-a7dd77951f01 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:84fae6f8-5238-48c4-ad62-09704ec36e76 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:c7a89034-7d3b-41c3-864c-2082a8712def phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:1f732908-deca-45ab-9de2-4ffa4e15c4a2 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:081fdfcc-022e-4b62-afb3-03a6a109fea3 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:8529e5cb-a4d3-4575-a870-5a54d03662e2 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:f9e6366f-6439-4aa1-9216-e0e804778df3 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:6000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:6de70b18-9716-40b2-8eda-acf402a9ef85 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:5000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:e99200f7-3112-49d8-bd3e-baf6cbc0919c phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:2ae23785-b3ef-4125-9229-9dc052157c45 phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_phenotype HP:0034071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19807739 uuid:00058802-f970-456e-9470-1893f26d79de phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:19807739 uuid:a6d95f48-1304-423a-98e3-98e3c3e466db phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19807739 uuid:b32cce21-24e2-4713-93c8-cd15b949f5fa phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:18616706 uuid:56e3f14d-0edf-4813-ac09-8c25570c8bd4 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18616706 uuid:aabe06fc-c075-49e7-a879-7105ca599b77 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0008207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:18616706 uuid:b5a33bab-ecb5-4635-ad32-643a86870281 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:5e978865-30ee-4501-b8f2-f2fb92001ec3 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0002582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18616706 uuid:1fc048ed-a2ed-4c67-9d38-7e779b655216 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:42ed9f85-111e-4771-aa62-05b5d5f72b92 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:b1c0a9ed-6d59-4847-9ef6-4ec60cb76498 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:88f34104-1186-4dbd-a0f2-91782ee1ccc7 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0002024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:5da29350-3468-4b2b-9308-8b5230c398cc phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:d12b075b-82de-4f57-9286-fb3bf486ad32 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:edb9cc45-5f33-4be2-baaf-9dbc8bff3842 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:51785f27-39f9-4eda-95d6-f42d693960ba phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18616706 uuid:cc5e7225-c929-4d09-8813-ddda993a752e phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_disease OMIM:240300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:18616706 uuid:623fcd57-64fc-498f-be32-35d02c3dde68 phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:has_gene HGNC:360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18616706 uuid:f05f4811-ee89-4c27-bb9d-d0c09e1105e7 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:5e15ad2f-3bdd-475a-a7ce-ea49ee660fc7 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:ebb6825b-be66-4b0b-a9e6-4b44d8627882 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:ae0b6a4c-157f-41c7-bf7d-442d109ac253 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:b2782289-dcfc-4141-99a6-703abe4e7a1e phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:0ba71b58-86d2-49a1-ad68-5403db06cd77 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0003642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15148656 uuid:77eac8f8-235f-4d10-9a77-5d2c0f6c784e phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15148656 uuid:436bb2a7-359b-4f2f-b297-b26f919305f5 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15148656 uuid:2278622a-0d64-4f7a-a2a8-a63cfa59e573 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15148656 uuid:6e554cde-fd80-47b1-9981-95a7044db1f4 phenopacket.store:ALG9.PMID_15148656_female_patient biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15148656 uuid:49ac001c-3f3d-4a34-9839-0818c066eda3 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:0bf8a825-01ba-4b9f-80ae-e016ff03a9ce phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:83da913f-134d-4e14-ae9d-8cb52bca947e phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:5140e970-c41a-4768-9cee-8b722cf611cd phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:af96ae18-b58e-4fe4-bcf4-b97866448ea5 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:bd4f2cc6-06e2-406c-b5a6-6bf29a4f3abe phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f28b4e3c-9df7-4dbb-b9df-4f6f74352bea phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:c1a0ec55-f65e-49d2-915d-a6e4022cfafc phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:f625dae8-aad8-4f3f-b4cb-93684a6ba929 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:3695e925-6c70-44f4-abe0-d025f157d3c1 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:7590e027-258e-497f-881c-174b70074397 phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:7a3c65e9-20d1-4af5-967b-f406be0d0adb phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:4d83de23-3268-48d8-9a47-d6cededd1d7c phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:bfa045d5-c26b-46e5-92b7-8466c369dcb7 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:15945070 uuid:e2b5e9c4-5d28-4774-b21e-75c4b88f1d57 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:15945070 uuid:114e0a78-ba4b-4a52-ad7b-3ca89505112e phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:15945070 uuid:4ba29db8-e6cb-448f-bd68-5bcd1208d835 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:f235aef1-bd65-4e36-aa40-de8bb4335aaa phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:ffaf1ddc-14f7-428c-aaf1-6055758081de phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:2458eb5b-8861-4037-8b88-4721a4739bc8 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:b88fd33d-ccc0-48d0-8322-982aed3673f7 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0003642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:68e60bc9-a9b3-4ee0-8412-5b7ff4e2c51c phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15945070 uuid:af9a0f77-d6af-4b3d-9d0c-c212763e9640 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15945070 uuid:39c92a94-259c-42f4-b259-3c02431d4c08 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15945070 uuid:f25cd7d7-fc8f-4070-81c8-8039a67fe495 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15945070 uuid:a40409a0-33c2-4fe1-8822-6e8bc239daf9 phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15945070 uuid:982e20bb-34d9-4b4e-9275-e98aef5f7e95 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:3a1ef187-a16e-463e-a3dd-992a4ec15f06 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:253e6761-929b-49fa-86f4-48f85e7b2c9b phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:ca8ef13a-a634-4bd0-a0b3-4c9dee246b10 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f50fd97c-ad3f-47f6-8f69-ca2b981a41cd phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:567fac75-9868-41c4-8e09-89ec0de404af phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:b585e4b0-db24-4ef1-9bd4-4219f1cfaa19 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:131aa916-7a41-4c58-bdbd-0652a40b011e phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:6fa231bd-b9f4-4351-8ee2-00e27ffed251 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:fe7ac413-1b05-45c5-8425-7dee69dbd59a phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:7a073386-0b6b-4806-9933-c1b4f167666b phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:98cf7e38-8a04-4831-ab5c-776f412f1db2 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:bb4fc3d2-613e-4168-bb1f-585b15914f02 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:8ea647ec-d99f-49d6-87ee-2b152abb4f0f phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:ac41c3fb-2d48-41ac-af27-d73b3d72938d phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:228df060-05f5-4200-a846-a096caaca378 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:06922939-a3a9-4462-85c6-ab1453ed7ffe phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f099a585-8c3d-4330-a460-ecf80a8a6711 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:663e95b5-3ca8-4ac7-858d-3da7d15231b0 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:9a06ae18-a5f3-4fa4-ad68-4e5501510d26 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:58cc8e7d-bace-4ee6-a611-8941a3bdbf51 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:64061911-b88b-422d-b30b-04f3583dcde8 phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:200256ae-846c-4b93-976a-c52dcf2696a1 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:65484488-26e8-44fa-be03-a5e7243930cc phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:99fea513-f929-4008-9398-909df99a0ba1 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:f541b6d6-f71b-4f7f-ada8-2885ad7d3fde phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:9b5163d9-a2f4-458c-81a5-f901dcf55cde phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:34539b9e-b3fb-410b-a4e5-b5ae1f48435b phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:161c3b3e-8cd1-4228-90fb-c409ba4103ee phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:8eec3473-2f96-44dd-a74f-e4f1ebdbb956 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:cefbdcba-a2f7-4cd6-8637-0915af3fd915 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:4951424d-f65d-45f3-a77a-8bc937e951ec phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:74b9ec28-7f2b-4345-a0ac-14f8538eb7f3 phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:b651cd8e-30d7-41cd-9dcf-dd732bfdf1ad phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:a99bbc00-46e9-4963-a3f9-510204694ecc phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:854d8c12-f255-433f-a25b-f2db2eed0c53 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:65da4adc-b55d-4e00-99eb-e4e0442ac32e phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:5cde9a1f-b0d3-4c65-9853-e865b16f9fd9 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:2eb02daf-d667-45f1-872d-ee2095575fbc phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:0b5e1b0a-1e61-433a-b0d1-ddce2cc8ae38 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:ba679bb6-06f3-44c4-a92c-14a8ad334bc1 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26453364 uuid:a4d1cfe6-53b1-425c-8bdc-c7c49425adee phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:f88b73b4-6646-41a7-9368-6b754ac4e38a phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:67d927c8-a9f3-4191-a63d-bcb735c3c9e7 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:4292097f-b9c3-4e7f-95f0-4e96c211dfed phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:cc8ea33f-c2cf-4925-a735-320c2372171e phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:be0cc118-a967-406a-a290-c06ca6b983ba phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26453364 uuid:ce0c4f48-d00d-47e1-b487-180dbd4a5ed1 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_disease OMIM:608776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:a7459a64-c279-4f3f-9fd7-3a2060254183 phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:has_gene HGNC:15672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26453364 uuid:bf384839-f7da-4c3d-90bc-74dd7ef17894 phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_phenotype HP:0001889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:26040326 uuid:890a4df7-c4dd-4636-86fe-c968ee1a88e0 phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26040326 uuid:b46579a7-7a8c-49ac-b232-96bea32cd4fa phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_phenotype HP:0100502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26040326 uuid:48cad10b-fb59-4cfe-85c7-352cd40a46e2 phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_disease OMIM:618882 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:26040326 uuid:27b475c9-2d45-4f3a-b9bc-d6c990fc0b5c phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:has_gene HGNC:14604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26040326 uuid:6d6d1f24-8328-439d-9367-ad98342d23cf phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_phenotype HP:0001889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26040326 uuid:14b58d5e-5ca4-4938-86aa-6a0cc468ad22 phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26040326 uuid:bed76228-2aa4-4c7d-aa05-18e7203c0103 phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_phenotype HP:0100502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26040326 uuid:ff2dfe2a-a8b9-4a23-ac5a-10704b6c7da7 phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_disease OMIM:618882 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26040326 uuid:13bd08b8-b8a8-429d-b265-c44b10311aad phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:has_gene HGNC:14604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26040326 uuid:c1e68a98-386f-4bce-8285-cd2d7a0f0477 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:c70a9486-7e22-4d65-8f18-7635c76137a1 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:06207543-1ea3-41c9-962f-f205cb1eb010 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:a91e0be5-0209-45fd-ab80-a60a26458fe6 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:e7e69fc3-eec9-44b7-9f9d-f8f906698bf6 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:278be3d0-838e-4b3a-afa8-c0445d5c37aa phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:b70d2fea-b2a7-4e2f-96cd-3751d7ffc910 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:609ff7e6-e7d1-4358-a8ad-2d2e01ba1871 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:aa64d3ab-7b96-465c-b80c-a7f593adcdce phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:f9c65cdc-f54f-4b65-9d4c-3748611075e0 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:94f4d02c-3d8f-4352-bb26-7a4a710d5c0c phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:c2ae3e01-f7c3-4bc9-95ff-55770c5f9fa2 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:c496f7b3-436c-4a3e-84a2-1efcfd8e6290 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:bd2cdbc3-0224-447f-9ba8-9c89e0003723 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:5d209d39-5ac4-4a76-bf14-f556e72fde5c phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:02389f83-02d7-46de-8c48-ff23991c85cd phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:e0b91038-37c9-4446-b65c-1b906403b59c phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:1fb1426b-2d82-467d-9bbc-49079c61bc98 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:5210cf7c-e92e-4307-a617-94ba3f2e2fa5 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:33791923 uuid:66de68ef-d85f-4b47-98d5-5297e4cd1f93 phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33791923 uuid:0436079e-b61f-4677-b3de-442001fde42a phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:c79b363f-9032-4e44-aca7-4f86a0c68c03 phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:4c9082d3-08f8-4868-84ed-f1c15d4fc94b phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:d549ca8e-c859-44a5-8d96-a1ccdc97f28d phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0003108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:5d340382-f58d-488e-9d29-9f35e232079e phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:d36ae7ed-3b28-4ce5-b757-cc190bed74d4 phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:1a724845-a941-4e13-8276-c2f24d0b90b4 phenopacket.store:AMT.PMID_8005589_patient_B biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:369cba51-613c-4eb2-8096-01b42e8e4a4f phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:7a85db1e-58fd-4735-a887-611c5f4ed639 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_phenotype HP:0003108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:0d2b005c-ba5e-4c1c-8c02-c85debc4e704 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8005589 uuid:ec41d55b-ffc5-4338-92f2-51fd3eef0b36 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:454407bb-7213-47b6-b522-07f818afff07 phenopacket.store:AMT.PMID_8005589_patient_A biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8005589 uuid:c790249e-f047-4cab-8a34-3f7054b43322 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:9600239 uuid:9742e5cb-a4d6-42ba-a01a-7c96a34fec68 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9600239 uuid:fa4494c8-b1a9-42aa-9fa6-6c1de8940ae7 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9600239 uuid:499c2030-96fa-4ccf-af59-0f9b20ce8ac7 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9600239 uuid:6ada7fc6-e4d2-4a53-89d3-f714f7cfa78b phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:9600239 uuid:5dd8c1bc-9d65-4243-b8e6-826c7cf20356 phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9600239 uuid:cc42ccea-0f07-4d18-9731-b5d25c815778 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:a4f76d8d-02ee-4f9e-ad21-e07d04d58e82 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:25acf6f1-5948-418e-a08e-f49079f52b00 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:006f9b43-dad2-4c04-9205-f52fc8e20b32 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:58c74a56-505e-4b23-bb24-2f8f4bc1f78a phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:63ed1be6-cdb3-4679-b48a-bcee6476ca87 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:4867cde1-1464-45f3-a981-825199216d3d phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:6d5096cf-53c7-40c8-84fd-c0a22b7d3ccd phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:a39b97e9-5218-48db-8c07-c6cda826a136 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:1ec211be-ac4a-4e43-bc90-2d210eb026c9 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:9707eb6b-47a0-4e4d-b922-0871d0853c12 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:4f079ca1-9a12-4b8b-9f1f-83754a43ac50 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:7c809b75-eb9b-4298-abb3-7a32f29383b2 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:eec97f86-124d-4a4c-9ab6-4339462b6e91 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:21b35488-2843-470c-8a49-3e8234fdb9da phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:d5ab1155-56b6-4efb-b760-287bcfc13b0e phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33791923 uuid:7c6a45e1-bd7b-43d6-ba2a-b794353445c2 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:1eb4da29-1107-4220-8f79-bb1bc42f0adc phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33791923 uuid:950756ce-4918-414d-9afa-f3f58a1d710b phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_disease OMIM:620398 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:33791923 uuid:732466b5-8b7f-4dc2-b57c-1a35fed6e272 phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:has_gene HGNC:473 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33791923 uuid:553630fc-ffc3-4490-a130-bb13fbbe5082 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:22150416 uuid:69d5a2a0-7aa1-4c5b-8e67-5e82c0fb0ac1 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:855f71c2-388c-479f-ae15-22fec4165a0b phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:7504fcd8-4146-4cd3-9565-1d3911674b72 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0009085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:ccfd5ee8-82af-4022-9c48-18900a4c581a phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0004407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:5f071257-9d56-47d2-b092-1b0fb232f15e phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:245fd23b-02aa-4468-a491-62489f27e882 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0011225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:3a9a4fb2-d5e7-4a99-9304-337033cebccc phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:b537c34a-2b36-427c-af07-8a1aba4a60c3 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:284ef28a-4ce1-4beb-a411-c5cef8c5c078 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:6643e884-80cc-4074-8f16-3e9b6a9d519b phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0011386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:b81fb373-25b9-4185-97c1-c916c813dc20 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:ee275fd0-87d1-4139-94f6-c3fa87222c0b phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:9df20c76-c18f-40ca-9812-7ffec859df8c phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22150416 uuid:38eeddba-e1dc-4243-95a1-aadf5c832fef phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0002694 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22150416 uuid:8d5501f8-4471-4d38-aad6-3c60312f3d9b phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0004437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22150416 uuid:e8ec5255-46ed-45e1-83b2-d2bfb6f3be2f phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22150416 uuid:ce06597b-66de-46d1-a366-8f7adb6c6bbc phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22150416 uuid:9b2bb30b-423a-4640-bc4e-03d9e27979b6 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22150416 uuid:4730722f-0acc-4611-a9b4-dcd63286cedd phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:83160b47-b6b4-4b8f-a583-a402ce824deb phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:815cbe6d-9f2e-42cb-aefc-174256c6b4de phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:d914e04c-9eff-48fe-ba3c-8059932c1630 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:18e0159f-1ed2-46a2-b59f-4ae7e50bb5b6 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:625d272a-8489-41c4-81ff-1c2ced50ad58 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:76ce3b51-8f7a-4a71-8318-5c99e2fa0372 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0005017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:be57fcce-91a7-4e7c-90ef-4813744c8a51 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0000867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:f58512cc-c39a-4691-8c82-3267210011c2 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_phenotype HP:0005645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:c169bba4-8944-4120-b676-54790ad1a977 phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:22150416 uuid:f68ead91-6700-4093-98b2-0a4ba8dd7d8c phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22150416 uuid:a2202f4f-4241-42be-8e94-1d39fe1cefc6 phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0002694 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:20186813 uuid:f3f2a8aa-21a6-47f5-af49-306d2911df37 phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:20186813 uuid:ab5fe110-5bf1-4456-9cfc-0894fd65505c phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0012370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20186813 uuid:ea5461c8-6cb4-4c47-a39b-cccec221485e phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20186813 uuid:76a6e63a-6f11-4824-808f-e6b903f3d042 phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20186813 uuid:129da071-258a-429e-9764-d012f4ae3890 phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20186813 uuid:077e47b5-cc11-4378-862c-cb75bc29e1ec phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20186813 uuid:bf87a88f-30cd-4534-a0d3-a6e5f149c898 phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:20186813 uuid:130ad138-8896-4180-be35-5d207721405a phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20186813 uuid:6ce7f901-3385-4672-a690-599c997e68e8 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:22647861 uuid:4588749f-9405-469e-885e-bb12df005bd9 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:22647861 uuid:5a50c017-6bb7-451a-97d2-b7bbe8510e94 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:22647861 uuid:6d75aab6-7774-4e94-b6cd-b0735d3490bd phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0003109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:22647861 uuid:bfa1a6ed-d5eb-4731-a6e9-3686e64b58d3 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:22647861 uuid:94359227-e82a-4b13-a17b-8cc3c846403e phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0005645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:22647861 uuid:7891598e-7d14-40ba-9f5c-58030c502e82 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0030840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:22647861 uuid:bf3f5f44-4374-42fe-a142-417ecd9bfea7 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0001785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:22647861 uuid:a8bae999-7b21-42af-b4d8-79d428587da0 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0003419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:22647861 uuid:f997e18b-0d87-4056-92a0-fd04603de6d2 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0005195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:22647861 uuid:ca14a318-95af-4960-af61-6e00d93254b0 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0005017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:22647861 uuid:690259eb-edd0-455d-9c61-c02360ccb644 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:fbac63a0-06a0-44da-857e-cf66af4bb741 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:de7424aa-2ac1-41e8-9ad8-8fef04f7c4ad phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:69d660b8-f511-42a3-806c-5a34c4cec924 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:a668321c-b105-4585-bf44-b24d217d56f0 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:e2dfd386-3177-47e3-994f-241b58e5ced0 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0004407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:44674378-de9f-48f9-93fa-1d48df8c46a0 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:54ca261f-11ad-44ae-b576-8ad27cce3f14 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0011225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:e57b7eab-5db2-4532-8971-fb8efc7400fd phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:76bc02f7-d0a7-45fb-8c0c-d7cc2c1c4115 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:1257aa8a-db16-4ef5-9b52-34575f636fe3 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:2f34aac1-1d1f-4cdf-ab2b-eb149cae0477 phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:a3cbc193-e1aa-494b-a5ff-089af5141d2a phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:a2c63994-04e7-441c-ac90-6fb05203830d phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22647861 uuid:f16e21bd-da08-48b3-be5d-c51a1bf0846c phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_disease OMIM:118600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22647861 uuid:86479ed8-30f2-40af-9e75-593b0849476f phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22647861 uuid:a52e4141-81a7-4d9c-8d77-23de65d6d492 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:20358596 uuid:f88d48c6-06fb-48ba-acaf-2ec9cad93810 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0004437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:20358596 uuid:daee627b-7699-4a32-9df2-f8c264f32111 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0031428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20358596 uuid:f50361de-829a-48a5-8c35-11a56fe65676 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20358596 uuid:2c8264e2-b831-4cff-891e-1e739d1e7ccf phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20358596 uuid:934d557a-b4a0-4b20-9ef0-7192ea21ff3d phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:7d8ed05f-f45c-44d7-a8af-dad5f244bae1 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0009085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:56d1fd6e-f101-4a2d-9918-ed4d95158888 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:20358596 uuid:5e33c2e7-651e-45ef-ad4a-aa6e542970fe phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:a4bef07a-3ebc-44e1-bbc2-d9b1e07a765a phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:68208028-9336-472f-b0bb-18c183f39317 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:9842ce54-4119-4142-b770-253adc95d2cb phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358596 uuid:ce0206a2-7676-4351-a078-6a11a0c4e748 phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:d35bcd56-9b4b-4347-861f-06f3781c8ccc phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:54d11ea2-29a9-401a-b1d5-44fde806ef14 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0002694 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:20358596 uuid:8f23b438-8717-4b56-9b45-30f133872f70 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:20358596 uuid:6cb22bfb-6be4-4d3d-b716-e735ee97e4cf phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0004437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:20358596 uuid:b08196de-49b7-4ba3-970f-4c401a07d7e7 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:20358596 uuid:7ecef187-fb1a-4777-a956-e25a6b8cfe50 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:20358596 uuid:9d08b087-5915-4dbc-9364-177afc3fea0c phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:20358596 uuid:93821b1b-1d93-4632-bc95-360e1577bc66 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20358596 uuid:71a46f31-2692-45bd-8b3c-bcd0f3a7619a phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:43667a43-a05a-4260-b7cd-c41b8063da29 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0005906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:aebbe36d-bf03-4593-a6bd-4aabe3709ad0 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:7dd39985-3159-4d7c-a9ac-b9c332b2ea55 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:d8b268ad-651c-43dc-81a1-89b479f97779 phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358596 uuid:9fdbe86c-b698-4f88-ae7e-4d86f4eaa8fe phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:20358596 uuid:e59b763b-ed0e-460a-a7b7-c126886e2ecf phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:c8e2c470-3523-4898-ab4c-ec29fde49e0b phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:22150416 uuid:7da10889-1696-45a5-91d5-d94d06b229d4 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0002694 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:22150416 uuid:3bad08a2-b424-405f-b33f-4a2b3ca60d16 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:22150416 uuid:ece5b803-f75d-45b3-a8f9-c724c0678e72 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:22150416 uuid:22d5c7c2-7231-441c-87cb-baec660d83dd phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:22150416 uuid:0412b510-3314-4c3a-b4e8-9a6b1311dbbc phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:22150416 uuid:eb188bba-bf35-4a18-9163-4a5e68bacffb phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0025405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:22150416 uuid:afbd579a-d93c-4ef7-ac42-ea3aeeda08d5 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:22150416 uuid:34837f85-90c4-4ea7-bd6d-c27ddcc53eec phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:68174edd-5b26-4da6-908b-2b37073f0440 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:4ed4e72b-6dc5-4921-bd58-29a8e58662d5 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:97459383-dd6b-42ef-ab32-67626b2e4e89 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:fa2046fc-b20e-4ba2-8768-4c4ff70a3ed8 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:e27a1bea-8618-4ea3-b635-5c3c87d57544 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22150416 uuid:e3aad163-2158-4226-b867-2b99d04f0240 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0004437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22150416 uuid:bc6b6511-c7a2-4cdc-8da2-bd44a92cf40d phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:c8c6f8d4-9248-43fd-b088-1765624654f0 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0002677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:bf2f296d-7c44-411c-acfd-030b14ee0718 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0005017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:23aab628-f703-4e37-9162-08fbbdc82956 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0000867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:8d09924b-2320-4f80-b20a-5a2baa2e17cc phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_phenotype HP:0005645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22150416 uuid:cb66c5e5-224d-4f0c-a930-dab3c8b01f86 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:22150416 uuid:6a76e70d-ca18-4f1e-9e18-31c1b8102305 phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22150416 uuid:ad424415-e603-4f05-958a-57cb27fdf597 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0004437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20358596 uuid:5eba8199-8c11-48c6-8ef0-b57736c4593c phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0004407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:bce3564e-8e88-4eae-8fa6-2e58c8c7c2f7 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:ac9c07f0-7c8d-49f6-a032-aefef3ac3614 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:20358596 uuid:5b825be7-b0c6-4ff1-9301-7f3a64446b16 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:40574483-16bc-4ef8-9005-e1f11f581337 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:b0acced9-dc7d-45be-b698-502f896b31e6 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0002753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:99a17507-fe26-4fc8-b9c4-6c6410dba1ad phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:167f217b-8657-44a5-95f4-10b188fb5b17 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_phenotype HP:0000360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358596 uuid:12c55078-5f8c-4c90-837f-7a7a087dcb5c phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_disease OMIM:123000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:73323b9b-c2b2-4c17-b30b-5040cb5656e1 phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:has_gene HGNC:15492 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358596 uuid:4b68e29a-a48a-432a-b1f7-4b7c3b66dce6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36de3fba-dd23-4225-a51d-406c14e7a994 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:611627a0-a1f1-40c4-aa5b-ac6e271b4614 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2e158df-b0bf-4a68-b0f9-a3e6599663c1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91c3ae0e-64e7-41d8-9f7c-effed1359e6d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5f383918-01f6-4b9e-86e7-91a2a1507c15 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7fe2cbc1-a4e3-49d7-b4ef-90d82c6546e5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a21fb0b-602b-40f0-b71e-63a43923b9e5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0de2db4-e260-4c37-9eb9-9ad25a18785e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b188998-9b74-4c80-9adf-3071340da4fd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1cb3d47b-75dd-485c-b545-492899d00b84 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fc7c9480-dcc0-4c25-ab34-547848630b93 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fa06045a-db08-4f87-86d0-501180e182c9 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02cd5b36-2073-4de2-a95b-b88c9a5256a4 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eca804e3-4f62-4e26-a071-2f9cdc665672 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f357d886-7d05-4466-a1d9-52eaddc5985d phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7dc655a3-9873-4ae3-90c0-3be117a31c99 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7e0f2208-9d9d-46b3-8e88-38eb90751d26 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:30be782a-bdd1-46b2-bfdf-ef13847f0c93 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c4a1fb2-bc3d-4b3d-801d-336fea0ed293 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a4b1ffd1-66f0-417c-9d61-b783892ddbb8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:628c849f-f583-4202-a03c-890156a6d3ab phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f4fdc073-f03a-42ae-a03a-ccb1e4bb98b2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0b16e2c4-3993-4cd3-ad50-d27a90a8f411 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:261ba5f6-5ed9-4928-9ed5-f00d6ecfc7b7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3b86ac56-3e63-4c93-92d5-433f38817a97 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:71c31bf5-a006-48b3-96f5-3fc2eca9fd6f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fcded99f-3b98-4ecc-ab8a-0cf58ff562b3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:301cc5dd-6e04-44ef-aa04-e51c3d366422 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2c0010f9-bb75-4392-a334-a44586c7a78c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9e38b6df-6b25-46e7-9971-8a017d721244 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2a5da3e-16ef-42dd-b97b-60f49048b399 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3eb3ae6-af28-4729-a93d-d87fb819cde1 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6707535c-d538-482c-aee7-b2f39ce58936 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe568d95-1854-4a1e-bbd1-e660c170d338 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f722801-19fe-4429-ae63-1947c2dcfa4d phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:649532da-974b-4246-b15e-be477ca2a849 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ad75658-d13e-4e92-851c-0fe522650ba8 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2f93659-bfa7-4e7d-9893-fb96678b4bd4 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9ffad757-6569-4f98-bcce-3082b8335636 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:361ad942-a21f-4ea5-8f75-59d09e1b8557 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fdfd7f0-d67f-420c-ac62-688f1721ca5e phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a4b8615-b8ed-4e3d-a0ef-3cce559f7655 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d3db59d3-7d93-4a92-9b1b-971789b547f6 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84e73781-12fa-412f-a7cb-c2c278b3a208 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:65517e14-8d68-4a54-b063-df3bf9a844f2 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:42e56f2d-9f59-4c09-9681-e42cc276118f phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5781ce48-e42d-4ed6-8638-fa0f93584480 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e8fcac0-7dab-4beb-a71e-dc8efacda1ef phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5e511e31-a6b3-44c9-a8a7-aea25bdffe78 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:abf72bb3-4088-43ea-8266-fc5a5a6268f7 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:665b2cfa-9afb-4e5d-acd6-7507eb6b73d0 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fd9e9fd-8afb-41a6-bf73-af9dd4ce7c4c phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e002437-70bf-438e-8e0b-668d97552fb3 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f5db48cf-9224-45a9-9b4f-9448a794c771 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a66cc590-ae86-44d3-82bf-77d3753d31fa phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d1de357-d94e-4a6b-8dd3-a2c7b4bafe65 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ddb9f8a2-f7d3-49b0-b3c8-d9f2772062a4 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c91cf1e5-d35c-4094-aefd-c2ee5e841199 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f0f8015d-dd01-4d19-8a5e-3482fbde0dc0 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c369a0b6-30a3-4249-a4b4-89aea0f22373 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f2146697-e3ab-40d2-b547-6257f694c2e9 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01bb663c-1e51-47ac-95d2-78a187d8c782 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4086d9fb-9deb-4bd1-a2ac-0da185da79a6 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94bea96f-109b-4be9-9cd3-3ace20924361 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a59e8b72-d33b-46bd-b50a-13de1a1ebdf2 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae321ce8-1df1-42cd-94dd-bbb046dadca7 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:610bf82f-e899-47c9-ab12-57b422f510d9 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c3ffa8b8-e384-444d-acb1-d2369ab68784 phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8d84e2ec-231e-48e8-a47b-9cd2fd8ecd1e phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3bdbca8c-1517-4133-ad9a-b40b7fa1663a phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b2e776f-c1b3-4720-b111-5574a1dee9a7 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:babd53c9-2e0c-4f59-92e3-3cf8b30a2d4c phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bb3214d8-ccb3-43a0-b146-5063520ff603 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d0d05227-255f-4c15-be02-32dbfbf06ad9 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7318731d-b448-4a31-891d-944ce3af199b phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e009a65-5cac-4fd8-bb24-2af637df5c57 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d9307ab-4bde-490d-8e66-981d2a98c861 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:941522f2-3caf-4be8-92a4-58a81e8f92a4 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc0691c4-8593-4ba7-8cdd-940845fee392 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6be22de9-0111-4434-8825-70fbf4dfeba7 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77c0aec7-8cac-43a4-a75c-ee65dd98ee99 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:00776ec0-a028-4b51-96bd-c39a6b5d5fb3 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:372d18d0-7fd6-4116-8ad1-7514460efc27 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0875f1dc-3ea8-43d8-8a42-f5f0a8f439ff phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:498eb5e8-a196-4292-bdfa-c35c8648d62c phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c915593e-19c6-4c3c-94ed-5755749c64d6 phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:445947b7-ec3b-46de-bed3-96f361b4e930 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f27255d0-0d55-4a57-aa21-afc048f8fc2a phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b41bba4-0a9a-4fbe-b762-77b2c88c1693 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e3e714f-8935-4709-8307-644dcc819d0c phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a4cd51b6-5c85-4eec-a8d0-0ebedb75c7d2 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:da9b3ee4-2970-4fa8-9d65-5815da976c40 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd24a108-9dc6-45bc-b4d3-7a1eb9e023af phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb9e78ec-861a-4d63-ac83-69b0c49e3022 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6eb681e6-c544-4ec8-b340-14a7f2e78c6e phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a50a1f8c-70fe-4c54-b157-7a57e7a55c34 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76afab4b-1e32-40e1-8272-e4c24126019f phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8e5ffbc-efe1-497e-8231-a75ae907a22e phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28a0e536-417e-453b-a04b-8e6697d51125 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f644c472-2f87-4285-a5a3-96920b6fd5fc phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab944fde-e37f-45e1-a8d2-aec49c644a26 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0eefab13-112b-4166-be2f-ba1f2925a2f2 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:822c8638-279d-4396-928d-8955fc8207df phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:00b72396-398c-4387-b152-880e469dd49a phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59d915bd-d608-4253-a6fe-080ca4d86d64 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fbf00c49-f281-4927-8e21-293e625ed8a1 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a97049c-d226-42e7-9459-c2c4bfaf15b7 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:119d0f9a-c649-4fa7-b8bb-fc71a954f430 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a72b5185-1d82-4631-a681-6bac762a8dd4 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1625e85f-a94b-4a48-a806-ce67149d3953 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:add0c4a4-dc65-44e8-bafb-96d674c1b4ae phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e73bdb8-ff4f-45f8-abc8-ae6f2b6e8bdf phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:19fd813f-ddc0-4e2d-9d7e-eecd913475a2 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:19553aa8-0c25-4793-a702-989c8af7b601 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4e04d35a-0289-4dcf-9a05-8069e662e3a9 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:516d80a3-58be-408b-8d68-78e3b2cb793b phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48f9d65a-fec4-4325-afe3-063639b077da phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:353372bc-2ab7-4935-812f-a72ccf4274a6 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:da885496-7c29-4b7c-aff8-ca281f5a316c phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0bcdc569-6df4-46cc-b437-c85ed132ada6 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eec783dc-1050-4351-8469-6742197bd2c4 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8ab3682d-2b28-442b-bfb7-1fce237ded9a phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c737e01-2d45-4b0a-b0ec-e2c3cdc70149 phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:21c534af-4815-411f-a4d4-bb404adad35a phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:53535c39-fbf5-42a5-ab77-02d5edeb41fd phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19e40352-d5b4-454b-bb2b-e3e45a77f811 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e96ce6b3-d2df-4427-a99f-ad5794fac53b phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:952f35f0-535a-448b-9262-8e2fccbab7e8 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e2fdabe-bd1b-41cd-a325-42947d5252c0 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f15f3a01-4d8e-4166-b66b-21a1ba8fa4f0 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9c1cce35-1d23-41f0-9a50-24246135610a phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a4377dd-3c89-4244-9c74-42891cf2525c phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36cceb72-2071-456d-8fd1-b32db2caabda phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d87e934a-78c6-424d-bfd6-e3139a150aa5 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:47202bbd-0d06-43b7-988c-dab1d2435fc8 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ea819dfa-198e-4f2d-96cb-e6b0d0cf222a phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eb0a443f-3665-4449-9f5f-32897033be2e phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0cfa84c1-1cb1-4e1e-b89b-78427576c0df phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7c3fd1cf-23a0-4590-8608-c1b2a08fda43 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dac00c90-fcbe-45d9-b1b1-4548930723b0 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1fe55fdd-3d4c-4593-9064-95c9e79be8d7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:de3e1d78-7635-4cf0-b8da-a3802846ade7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c2fbc36-0b21-4fc2-a4cb-d2a13a3d05b3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f81ed006-714a-459b-a92e-629746971aae phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9b7788a6-2170-4781-806c-4b3d6b7a9d24 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fde6fff9-3df1-493c-a256-5839f32b4584 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b778625d-620b-4c13-9e27-5c71a9d6ea9a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:851ba498-36f1-4dfb-b39d-161e08ec5ff6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92abc8f8-a1c3-4eff-9a14-d2e933ec3e81 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5de719b4-3b4c-4fba-a72f-36589db17dc0 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:040c056e-41d9-4935-88fa-f39f327d0abf phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4a51a00-926a-4d95-a016-ed9c57e87d47 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:04d37313-977e-4f0c-97c1-ff65baee61af phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6b323a32-4f0c-49b3-934a-300981810231 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c81dcc3d-56da-443f-bca0-0b5f8f946b16 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1f5b935b-5f9d-4ba7-88b4-37bacf84c653 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2634ad68-4c5f-4f09-9628-61e7941f1705 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:09e84ea2-a852-4143-8425-70eebc17c8e7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f75e31f9-5296-4cef-861b-949f35d7ed6f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b1c4747-36bb-4baa-a04a-76fe0983c03a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7984bcb0-6242-4086-9ce0-ea76a27c636c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a5f7200f-f956-4312-a989-2435a952a564 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3021e87-3420-48a1-8f89-ff4675cc2f2a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:353e0175-64c2-4d4c-8f01-c8e708a04c3a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e01a79f5-6c7f-4b4a-915a-7b2fa5b401d7 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8230e0ce-323b-43eb-91eb-7df5f129ae29 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:31d91066-228a-430a-9806-413e5534c975 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78e26a49-5053-48d7-b66d-16c2294fb333 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:992fc040-23a5-4d10-9db7-29e740449753 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:955867d5-6764-40bb-afb5-3e833b133106 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5974e4e6-4d78-4480-b9f1-4c0c8488c509 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec0e0056-4d4a-4cc6-b4f3-850dad80bbc5 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:16e16af0-5a8e-4bfd-90f2-03dac0f95d46 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d70e1b57-3cac-414c-a704-cf58d3025b38 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P38 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c76f213e-63c6-4d84-b519-f410c6d5ce8a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P38 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ca9ae560-808e-4c3b-b0f0-4226785d7ebb phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P38 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:faac8718-668d-401c-bbf8-8d323591965a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P38 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f770d5da-471e-4209-b918-3a22e8a2338e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P38 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8ae62d48-f7e7-4c52-90fb-e1d3640b9aff phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5240d416-a048-4801-8691-4872afc36a17 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a6ed5d6-0d76-4e63-b395-1d15f305e32e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9246307d-5050-4e0e-8528-fbbf9860119a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8ecfc9ae-00ae-4ee7-aad9-f34fbf8c8cf7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c31e3635-bedb-4103-b359-0877f2802526 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b2ac11e0-1f9f-4c56-810a-b8cd54de703e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c64ebc96-bbc8-4902-95b7-edfda53aabb7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:abae3bd5-3d6a-4d28-98fb-03b3be134ab8 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:735260a1-047c-4e2e-b672-267ed12f803d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a0e853ce-2f51-4448-bc56-dc6cdaba7648 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f518631f-88c9-44b5-8be1-ef657640b2f6 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c3dd2df4-6630-444f-aa7b-b6c7dee9527c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:928561af-3aac-4743-81d0-1261ff654641 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:187bbc1b-457e-4e36-9465-27cd4c7c493c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a951bf04-cf07-4af8-97b2-8defeb055f87 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36bdefd1-b45c-4178-a703-6776ac1ed3ff phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:192efa3c-e2ba-4db2-9e41-90390236d8c3 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7230b78c-2d9c-4157-9562-6a1f37d5e6b4 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb990d89-dce2-4003-a7aa-b987bbc9506d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:64fee5e1-accd-44a5-8333-0478d52f69dd phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5fa8fbf7-a5b0-4ebb-af15-1bbf1b03cff0 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c176ead9-6a11-49e9-966f-a20a0e7f5c5c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed62b7eb-3baf-468a-aac7-1ba888a211f9 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96b801b6-9fba-4585-b797-b12939d19b71 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:10fdd902-ff34-4428-953f-3caf57c5e66c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94d589f6-2185-40c8-8c99-678b296b7d0f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae54e704-fe10-4f67-9f0e-30bddf847d3b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:281e7a6e-765d-4e5b-abaf-d9cd939c60c7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a5347b0d-4960-4533-b44a-dd6b92cd9fbd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd04ecea-4016-4d49-9b6a-635027ed14d8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c8da40b-3379-43c6-bfe9-bd44d3a3dde9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c6dc941-1a77-4273-aaf6-508fc37e7362 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:69a887ca-6c3c-4700-a537-f17c74d4cbfb phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b58d076d-01f9-4a28-b656-56acd33df129 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a400375b-0623-4a5d-8994-b10f54339e96 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25161e85-06e5-414c-8ff3-49340fcb6359 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22edae83-9a1b-44f0-bb11-ae655b008a31 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dcdd8fca-4417-4fc9-bc99-6b52aad03785 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:95440d6d-9e36-4d50-bb48-736eb7b479c7 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:07ce977c-17a0-4d4f-a416-48393e035852 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:577a5cd7-f7d3-45e8-bf2d-44cf74415927 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59ea9c4c-34fe-41b7-8b16-33ee4a965558 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7be7a7a-15fb-486a-a51f-5699d0df22b2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aa62f12a-d7ca-431a-a672-d7c61b3fedd4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c4311a1a-294b-4dfa-aa44-308f2b3d37e2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d04ffb8d-f54b-41af-8078-1001dee01b45 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cb90c258-9b02-43c2-a113-2d28abbb70e8 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad0fdc82-9216-48ab-905e-55f75884d76d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cd34ee1b-8596-469c-bbf3-7d73cafd7c28 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:94609e7f-9adf-4b6e-85a2-b95750bf56d5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8f7e9c8e-d111-43b1-bf58-c2fb3aa0adfc phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ddaa119-e170-4d06-96e0-8fa0e4660bd7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4bca98dc-7ce8-4dbf-ae1f-bd23f1c4b3ed phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:10b500ba-a617-4601-960b-d0253a2fbd37 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e07cf179-3357-4798-83c7-fe88856c12d3 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c5f27f67-9584-4620-9d34-29b446546bea phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:13a6cfc3-2ef3-4a04-9bb8-255f6b9f23a5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c117499-06ee-452c-ad30-e263675f4cd6 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f23fa289-9b72-4edf-b826-c0639bbaad67 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:389c3b0c-38aa-4a25-ad7f-fee98ac35c16 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f210692-7f7b-42c8-b8bf-4c99bdce59c5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:933a47cf-a015-4f9b-ba74-6f397dfe1ab2 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c4478949-48db-4f87-aa98-8457194bf9ab phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9cb9d05f-cb11-4fa0-8fcc-34f7b82bf28d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7008ab10-890c-4038-8ecd-3909c6e0393c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:960dbfa1-ba14-4d71-b91d-d6edc271c8da phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4d966483-e7e4-4547-b3be-1b272c3bd3a7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26837fbd-22eb-492b-bb49-fc803a83bcbb phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:742396ba-82d7-45ff-bfcd-b0693df37c41 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:81a4e03d-a62a-4e05-a0b2-3428106d5df3 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:315c0e5c-9b34-4067-819f-6b526b471c8e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84d5e237-5a74-421d-9b0f-59b091ce9eeb phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7af65a83-f6dc-4115-a76a-025849cf682e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:64bf586a-9942-49ef-985d-a76e840d2143 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f5dc6184-60c0-4131-a6c9-714195f86bfc phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bafc20e3-7452-4a56-81d0-3e214a57dc34 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48088e43-9739-4d64-b20b-7ed7767be0ad phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8864f9a2-9082-4d5e-9703-25a03333dabc phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ad44263e-54e9-4ec6-b1f3-235910e2deae phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9aa32f88-38a9-42c6-a28c-9b3277a5af53 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:322c3fb0-1ac2-4100-a161-afc5040f6138 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:67e0755a-2c0f-472d-ab1e-16b12ee6d69d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1689dde2-05e7-49ab-95be-4e5a20927894 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e5638c7d-708e-4314-9187-d31430feeef2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8d7618fe-b814-497a-8aed-f4028eb937d2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dc3d8367-4a19-4f5f-9961-a5c27c66d631 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e7dd1c69-eb4f-406b-a459-7fc3e656450e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:995ff0cf-0a19-4e54-986b-255899bed8c1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1654d47e-135f-4be9-a074-7b9cd8c5bce0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a77cdaa-9e5a-476b-a712-cadacc46a974 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00f2cb6a-4b19-4b78-b8ad-8c427ed7f063 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e1777b7d-2f3e-463b-b463-a444f894d051 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5b7399dc-7237-4958-96a8-62066ce2765d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99a41507-6de3-476e-8e92-ba60f5c06b45 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:04621447-5485-4c18-a270-c9b4cf0f072c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b5d5cb37-b957-484b-a397-1889e32b891d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:44ac9616-cb4e-453a-bac8-6274c070a78e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:97ffbce8-f489-4263-9d54-64e6eb678559 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec4fe33b-d05d-4f51-84b7-370f97b4636f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ca1d03b9-9c84-4795-9251-6ee41187e2b1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b3d77d9-9097-483a-970f-34af28183518 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01a90268-0bb5-4ad0-a67b-52744bc67f75 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d54f088d-0e5d-4073-83a5-4df947b0f7b1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f4665c6a-552a-40b9-a90a-9c459ca555c5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2695f7fb-96de-4c33-9394-f70a8d41ad41 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1cb7ce28-cee3-422a-b0f8-5590689dbd44 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ded294d9-19bf-4046-a2ab-6b99bc807710 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed4cfa72-0299-4088-bbd0-a29d0101c142 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8108128-95e5-4450-b784-ad2b72d2d254 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:60ba3691-fa93-43c1-a07f-5892cb56a6e3 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fabba611-f374-465b-9286-cf642c73957a phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2eb135f5-81fe-4b28-9d84-59a972e92312 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01f5522a-3295-4732-a74b-8c1bee93267c phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7c91f940-7e31-4361-badb-dc9f6389238c phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:db6693a8-c9b9-48e3-adb4-aa84af14721f phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:65d3bc25-c8c7-4f15-8b80-978060cd3eca phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08e99218-640f-44a8-b64d-2b5a84be6351 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb54e03a-ea2f-4f46-a5d5-45c95e8ef7de phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2d19920f-a181-4f67-b59b-ea79f6645f3a phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ff652fd9-7a39-454c-a27f-0614f739050a phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2b9b7204-8ba0-46fa-9743-f6df2296d9ff phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c1fcc2b-f4da-4c03-8456-5992a45c20a5 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fd6e9e0-785d-4a35-946b-d6c55660bd57 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2789d2b6-1e68-429c-962c-69c84b1d26c6 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8bdb112f-be3c-4432-a1d2-edaa4ad737a8 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:54cd11fe-5e64-4a78-92d0-7f022a78448f phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:534bc824-d061-4c74-a3b3-3070db6287f7 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48f4dc80-44f0-4911-8c34-7f990239d0e7 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d5074c4-5926-4436-abea-81adb57e40ce phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6c18e6e3-f918-4638-b31b-e9ecb1f19129 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7a92fb6-ee81-4502-83c7-1e58a6571631 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d8d588b3-b412-48de-a4ea-6bbc3b1e6768 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae5c3851-7632-4f20-bdd4-5d5cf1e41b3e phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d601b17-c6c2-4a70-a8ff-348103719faa phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a08fdc99-5be3-49ce-ab3c-0aaf74ab5c0a phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6610220-23e2-471c-81fd-c93a05af2fc9 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6130d3ed-3de4-4229-a7a8-fb2be1105e32 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:497ef239-8428-468b-be01-b83e2b7e3750 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72fa81a4-be89-4f60-9943-5b6a2271ad46 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:313c20bc-a074-408c-a957-1de5e29c0e7b phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:46b7400f-6bd3-4ac0-b0c0-ae1a66c68cb3 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:027f8ba9-dbc7-4bed-a344-129412e5f4ca phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e3dcca8-e2b4-4136-997f-44b190b9acf3 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48425fe0-a5f2-4b19-b160-2f7c3dcc542d phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:241f716c-5c06-4851-ad75-57de5b5d3e58 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d19ddd1-1545-4741-9449-2b26bf459917 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b12d3fd-9de8-435c-8df6-43638c47c3d5 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b7e6153-c351-406b-8ba8-ced1294528e0 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34334a9e-7448-4f50-aa2e-e20faeb567d6 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a728815-6a08-4b22-a4c5-e95359bfe252 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26fbbbf6-17ac-4d97-aac0-f4fb74129d31 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6105b9e1-5c7a-4a00-bc07-8fd832a48992 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6aaee3fa-cdb1-4f5b-8315-1d37eac4550e phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:db0fc24c-1442-47c3-96bc-60190e5512d7 phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:31d8b0c0-65df-44c7-aed6-76ecf42e79f4 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3af543e7-e7fb-4b25-b484-33e9efb89b9f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a47170ee-2143-4d25-90b5-3206ea42905b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8941a80e-6fde-46a1-94d2-84763325cdb9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8842a30d-1385-49a7-952e-c16b73045cc1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:559c6c81-f596-4ccb-aecf-23ed5f09a119 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b991dac0-5ad3-4cc6-874e-c1c26a9dbe89 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:00968fbc-71e2-4853-ab9f-758a0decd21e phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b154e1b7-9fd0-4bc3-97d1-d1a17b3f760b phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0597dc7e-eb14-43e1-9e6d-e84493bfcaf5 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7081b515-cf4e-48e9-abb7-d9e4dcb6f57a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a3fcf5d-2aa3-41f0-83c6-586aae70da34 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:589d9f47-a170-43c4-a8b9-03342b25b126 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5553740-f5c5-4536-ab97-0e6ee81529e1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:552e8aac-8b4b-4047-92f2-656c09d0d7bc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf310e1f-0593-4a25-bb5d-4d93e9fd88df phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8245448-e276-4711-9116-5fbb77a5e290 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab2b1a6c-abbe-455d-8010-531b178374ed phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:be50f10b-a984-4d1b-913e-e8cab470a24a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8fd35ba1-0158-4945-8865-c3299cc1f34f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8e46a47d-2881-4bc3-81b2-c984ba5f72ca phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ff5e3071-c80f-404f-9f26-d7d01cf345ee phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8133280e-e4b1-425b-a956-dff8d3f1da8f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22ae1e1d-f918-4f8e-8be7-4c66bc6bd9b9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:371df76e-7433-4e67-810e-2ba14765a9f0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4d869bb1-6f57-41f9-a93d-cb8a95867dbe phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3bd097a-81e3-4e66-b9e8-fe9ed35a0350 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2aac732e-9d6e-4d37-a3be-2bd44ec6ca00 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0f5d1d8-6441-468d-b0f9-cb98243da02d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ba4005b-b662-4137-9ab2-c99d39535a48 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f59a80c-8b7d-40ad-ab9a-9a08f1502d84 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5932ec9f-e49c-445e-bfba-d6a47206c947 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4f7fa828-ac58-4473-a3ab-619006aca853 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c94231d5-6905-4d06-9147-e973abf6332c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:75622be0-66dd-4471-bd53-3080f733e18a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:01e3e599-af47-4b8c-a8af-dee3e3cfff59 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b1742936-80cf-4ad5-bcc8-b4cf718762e2 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9adf1b07-3c85-46bc-877e-026f602b1fd2 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e08cdd4-3756-4f6f-8e50-b88bd352d0e7 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f2c5ede-f657-4839-9e16-c158c095bace phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d681352c-926a-4e40-9218-a4ead4d7ad45 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c77e37f2-2906-43ea-9c4b-40772727788d phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1f2d3b8-14cb-4ff0-93e1-b98bad0717bc phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:06c95502-f847-4443-93ab-a92ee51da947 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f97acbd-2c52-4767-ad3f-fb6912eac5c3 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a9501b40-e78f-41d4-915e-45c5328d156b phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b70ff9c6-8c6a-4f5f-b5ea-9d2dbe08c85a phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c95e12da-e656-4f83-bb6b-149d7f3d1ca3 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35a8eee1-f6cf-4255-bab1-4046b3ac3880 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3527b159-aeda-441e-bd05-baee34577509 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77a9fa8b-32a1-4f18-85a9-90666e2bb7b7 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff00d9fc-1d64-4c96-b077-00d09e150e44 phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:98034e1b-df0a-4b98-89be-2b668ad277bb phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:da1ec54b-ad09-40e7-a8fe-095c8569b85a phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:00daca78-a952-4c45-a925-e3baeaf5496e phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:17e8ea64-01e5-4d1c-aecd-1153b5b5d697 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6abc191-36e8-4354-9d66-a8a92aff4a42 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ca9395b-8763-42b6-9a38-eac73cd1bff8 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22485559-5490-47a6-9d63-bb770b1eed03 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6c818fd6-06eb-4851-a2b3-013a175f987a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:70f914d5-cf7d-48a9-b987-bd48acb163b2 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a35fc472-f184-43fe-ad28-2e1eb5b67ddf phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7043c00a-53b0-4d73-b68a-45f0b75f4e40 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:114c0d0e-9094-4cb5-949a-87aae98a91f5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e44fb9a-4e2d-4e5f-82b9-76f3abc6296f phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01fed2b1-ae54-436c-896d-722264f4e8fc phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c3feb9f5-ba40-4a09-af29-820ed88e818a phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f20f8a2-457b-43e6-aa52-98fcab8fa104 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1021072-f4d4-483e-8dcb-9e97c895f13f phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8be67128-3cec-41a3-8afa-2842058271d5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5dac5af8-29ab-4213-8704-fbcf72954c13 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d8194eba-9cc2-4e44-9921-d132eef04172 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ec7670f1-6737-492a-afab-047920204fd3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2b2f0ac4-8055-4fc1-bbc0-364b1d4b00fb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba3917b0-6636-467d-a849-4bf876aef59d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:340a1151-43d2-4d19-9d95-066c0b010d78 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60f2572f-8afa-4210-8178-0f6b73653bbe phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2b107d9b-6e42-46ab-aa50-dbef4dada726 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e015fb93-6587-4c68-a651-b50dcf980e83 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d15f3293-9764-4413-b35a-163807ceb6cd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e7f3769-aa0f-4d64-b6ee-846bb0c0c984 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d97f2d67-41ba-4351-8860-93725bf06834 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5bc2ff3-e73d-4d89-ba6a-ca69b90506b5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f2854bb-a024-42f9-acd5-7a798844cc93 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68a0f011-674f-4d5e-bcdd-4f6c70476a32 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7a29da7e-60ce-46d3-aedd-590b3f45b951 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4d3609b5-1932-46ee-b9e3-165ffd43c393 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1772ede9-95ee-48fb-aeec-40d3a69cf6c8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d40b95c5-19ed-4f83-8596-56989cb1851b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:81b7a9b6-90f4-4578-84ec-c1eb029ee3c5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c1f06c7-6dde-4b50-a129-439a9d245c84 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9261a234-13fb-476b-a24c-d44c6991fc11 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:103b06fe-4dca-4eab-bda0-4c924f0f3ce4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ab451d01-3422-4fab-a2fd-a8ea02ac32d2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e7ff2591-f205-4053-88cd-01596e05903e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3bb582fc-29de-4327-9fb0-854c6eef1e4b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bdf4c249-8b8b-43b4-9363-a3d2f29e3451 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:85ef02eb-ebeb-49b3-a24e-786e9230a416 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cd495cfa-4444-4367-8aef-cc9ff5389a7e phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1f6970f-df56-4455-8bb9-f52d04cb4023 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f1325a5f-900e-4e11-89e1-cfcb6eef3f9e phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57c014ad-86cb-426b-9321-73bb04624688 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9ec600e0-196d-4655-bbae-c7b76581f539 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9930fe3d-6168-4211-bc98-426c75f43fe8 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2b30e075-a929-460e-aefb-56d3c67c296e phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62513b3c-3064-4331-a404-f1c4314bc5b0 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6c1bc0a-feff-42d8-ace0-8a567006761f phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9cf87d35-ba1a-4a2e-84d0-a86a3e4078ad phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6ca13ebf-b737-4ef1-b4ed-8bd330a4cb3e phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:570d47f2-2a63-4627-8e02-60066462ae3f phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:beba0664-a365-491e-9c52-bfe4b3e9ac83 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d7eff88-ebf8-4610-8007-e2ab910f7cca phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb0eec55-bb26-4426-8b2d-f32dc42fa547 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4c019eac-5e6c-42f4-8f96-2c8d7a3a745e phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a02f9fe-6181-428b-9b92-2bab41358fe1 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a0db9bf4-d8ae-4908-966a-f7ac621668c2 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9f735e4b-d107-4e0b-8fd1-c82fe2935312 phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d5744e61-6166-402c-9d9e-177ec3eacc41 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f188c298-39cf-4338-b757-5db60ff5792a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9de01077-67d1-44c8-805e-adfbb79c6a22 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f29fe9b4-0926-4c53-a60f-a4d9dbd54455 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5dfff026-bf62-4ff3-80dd-56242afc69a8 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4834b49-3bb3-441a-a532-a050e9ec5562 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fb29c440-9ea4-4178-88a0-38cebbb49ef6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:09981977-8f93-4a5c-bed3-e2c88b90e2a4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4d32520-e20b-4fd4-818b-91e60effaf56 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:973a21c1-9463-4c31-bf3a-2375931d36d6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32663371-7037-40e0-ae08-4c47d94a1eaf phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:77400362-1cb5-43f5-9d00-fe9268fb78b1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:92d1b436-4313-4b10-9837-413406bb812f phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8aa88676-4817-4f4d-bf53-2ab6c9531198 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c4b0dd82-d8b8-4ecd-a756-aff0be3d9729 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8938c2e5-bbfd-4ede-a96c-5f4d98c124f3 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:630117e1-47ff-4b4c-8392-9118d608066e phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3ba0e463-7bed-4d3a-97d6-833aee05f075 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0a6560d8-6c9e-40e9-8f8a-54d6c2cd24d1 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:baab6e6d-9baa-4e82-bb33-cad1b0416878 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a2f8ec1f-e249-4cee-a59d-4296085b0467 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7d960613-523e-4cfb-a912-96398ab7f2fd phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8f14bbf0-ff02-4886-9c77-7adee27519a6 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b7db0876-2898-44ca-8055-1b883dcb89b0 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6114db03-bdad-4448-ab05-c1abe1212171 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91203ba4-c994-4bec-b8c6-ed0b6521a841 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d068b1d3-ebbb-44c4-819a-f1bb22058bab phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b91b4b4d-a465-4ef9-8600-0827cd95d784 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4823df3e-223d-4990-a07d-79cc2714a431 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:61a492f0-5081-4246-8dc0-d4caff377abc phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd57960a-b991-4389-9d8e-6d2545fe6d3d phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57a3b32a-23ae-4aff-b046-6536f1df36dc phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:45031c7f-9145-4ffe-9482-f96cdf933c4c phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d583d4cf-40ee-48b4-83f1-3661791e750f phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bcd06468-b30f-4132-940b-4c49d20d9955 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:53c5faa6-0309-4ec1-8fff-7a6e8175a0ef phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:81d726f7-3a55-4223-8a07-32e3a8108b9c phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b7f315d-45ef-4cca-95ca-26d3fce20510 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bb34d131-f98a-424a-8fae-5c5516e4b872 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4250761a-935a-4e86-89d9-c9ab171c935e phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43fd4276-650a-4ff3-93c3-40b035110068 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a65406b-464c-4750-823a-29afece74589 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5a72fd98-cb99-4183-9247-b2e2cf64abc7 phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:677e6f96-a01b-4fd0-9353-be07ce680e9c phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c9fa2ea-a751-4adc-968a-7612890e96bc phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77908d3f-37ef-4035-96c2-0572e4aa57a2 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a2b375e2-d799-4402-9392-af4459fc5c64 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9df6a722-b7b7-441e-b531-db6632dc93b2 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:69f907fc-e14d-494e-bd52-9db1f42deff9 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d55ed728-f30f-4cb1-9017-18b36b6beb99 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85b67560-4a7a-429a-a03b-f749ae5b20ab phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf492dd1-e0cf-44f6-9d14-3def8d6c58ec phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7401128d-1e33-4716-8ee9-bddd5e86db05 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84cf7ff5-e5e9-49c8-8661-49d83b2aa6ca phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c843afad-9ecb-4e87-a2c6-da230fddf934 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fac448ba-e05a-44a1-92df-0fb2e280e601 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8ffe57a6-bc01-4ea3-8f36-6a21f86533a4 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:88945a79-8043-43cf-b178-6caf83d78122 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1218573-544e-4358-a737-48364963cb34 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:672a16a7-3cd8-4502-b2ea-c0acfb4a1d09 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d6563315-3d77-4f69-9ae2-7f22f275dd6d phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d02a7c0c-7d0c-44b1-a3a9-4aa3524d7d64 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83591e5f-095e-4f6f-9f77-79a0d21d6668 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:426f7070-16eb-4694-aaa4-0454a49cafe1 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b8050996-6b77-47a5-9399-63ee5ccdd9ad phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a144a0e8-d235-47f2-bb2a-982ada190e0d phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:176b6b53-908d-4f57-8e45-c5e0bd66d494 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fe678d38-c379-410b-8280-3a123063abf2 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79863b4b-87a7-47ef-97c1-bdbfb866dadb phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1355d17-a3f8-49ff-ac9e-7b55dbdbfd0e phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:56f58030-e45b-4611-b53f-f4241c9b484f phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2854e7b8-ef45-4e8e-b528-5e8395cb30b8 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5342246-678a-443c-a8ec-b13d866434f4 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ef47ed0-8f5b-4f8b-9988-a561d91aa6c6 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4e7626b-d626-431c-8b71-b1657af60ee0 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cac29965-d30c-4750-913e-c183d1f96641 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f6ab78d6-ef3e-44e6-8f67-9df642830582 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c1558c65-da60-4e9f-9cfd-716b87146474 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b876e66-8c47-40ba-96af-b7e58c78a6d0 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f3cc4a3c-77c4-426e-b448-82f4c52c0ace phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5f867e2-0f39-40f9-9d37-ec7a792c2eda phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:29f3ed12-7ce1-4ee8-b1c7-6ecd6adf05aa phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cee11239-9c87-47f7-99da-e0ac1adbb293 phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bd66fdb7-f327-4408-9caf-04ce6aaf9035 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:edb86147-aab2-4248-b824-d602850c6f03 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0526f4f2-d446-4881-94c2-234b8b3cee7b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6ffe0fcd-54f8-41c4-b104-166a55a8840b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ffe32fbb-cf95-42d3-930c-e85eac6fcf48 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:885ff8fe-5532-4854-97a2-2e1892a0c74f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8c21d284-3c58-45c3-8fff-9dc596778fae phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:032cffa5-a0e0-4370-9a8e-c4400501dea7 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b422524c-5b72-417e-923d-57a080629d9a phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:103f1979-72ee-440e-9ef7-b041cf1d7a2f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6c553e3c-d7ae-4d46-95f3-12e351abf343 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f983c82-6d1b-4bb5-8ee2-d424a47945ef phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4222e66e-05c7-4744-88e2-042b3d4a0cba phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20936452-5e63-46fa-937a-1bf7faef913d phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1d18ce8-db37-4959-8298-ffff27ab6fba phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:363db059-778a-46ce-958d-c0aa5ee1dd20 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aa4ac785-b7b7-4ecc-a993-900f00f6cf25 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ce02e385-43a6-4b39-8bf4-8baf8ae67331 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:484146c7-16a1-40fc-ac3d-247a5c5d9339 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b1a2a7f-70ac-4c0d-9e95-14c380662e6e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:97695b52-58da-476f-b2a9-33cf1025786b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:842002fb-6e7f-4944-b07f-128fcfb3e03e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d450ce62-dd36-4110-ad41-754b622fb86b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f06a732b-3c20-423f-90c7-8b599880bffe phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a5944857-c021-4505-a0f3-7199e9a3692e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e1f794b1-7d87-47a2-8f11-2ec897413173 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ca31c376-d6d5-4e85-83a4-97858daf46e6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd4077ca-ab42-48dd-b074-7f6437e1192c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e657515-f36f-4b61-8c05-8b223ec6a003 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1d699a92-f0eb-444a-bab2-6c8f96309b26 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85951cbc-b5ad-4013-87ce-73526c8a63cd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef8c12ef-8d47-49a5-9bf7-5213ff986d28 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:72ea5331-562a-49c4-8191-8edff140ae31 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51f9a2dc-eac2-4d5f-af40-f8a003c5800a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b20ccd1a-7d2d-44ad-9d8f-aebf7c965a67 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a23ee29c-3f4d-4897-b0e8-6254072545f3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:417709d7-a433-42d1-beb4-bb5036e2eb0b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3011bcf-05d3-4a72-a8c8-09017d765e57 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2dce2e94-8b33-4b62-b356-2613cad7fb53 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c68f7415-00b8-458c-a4ed-54bb79ba39b7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc14250b-2e7d-4033-9a97-104db340731b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7c6589ec-f998-434f-94f8-d2765b3a9147 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:323662f3-2ece-44b0-bd03-c2f9b5811c19 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:442bcebf-fb36-4a79-b150-f24510a0833e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72c34beb-1f5b-4787-8fa9-ab790c9fa626 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:735c7d83-e8a4-43e8-83e3-d011c39c2356 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:218915cd-da41-41cc-9ea7-f57c5f2f2e2e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ba0dfa0-fbf4-4ad5-a305-3342cca7aebd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c1ce6905-04a6-464d-8ddb-8f19b9a52806 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fbddb025-701e-4d75-b74c-18c6df202a52 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ba4fee84-7ca0-4b5c-b513-4fac2a168e24 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:37e6a581-043d-4f47-8b84-64cb4cfe5c2d phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2af98ca6-6108-461c-9cf7-34ae1c06fede phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d351ee4d-c9e7-44b6-b786-b39361c271db phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0df367f-2aaa-42f1-a55d-7411897d75fc phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:daa31583-b900-40a9-8e62-6dcbb398f97d phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:be3b189c-f199-457e-a4ef-8549313dd1d2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c39e357-c006-479e-a142-12f2de94b332 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:835b5275-083a-42d7-9663-99ff30889e0a phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f639f0f-6756-4bc9-b63d-16ec332450f1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae3b2b57-1d88-408f-a514-1305e560ee6b phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7340f59a-261f-443c-9636-8819cabc551f phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efbb100b-bd4a-4d90-a669-fb8996af2393 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86df07a9-ca73-4cf5-8a72-dbfd012ee077 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bfb370c5-2317-41b0-8c87-cd47a2aa1316 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e758887f-ef51-4c59-abbe-e2aef69c028a phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9332a05-ecf6-40b7-aa86-f713f8220d77 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84873b77-d5ea-4c6d-b3b8-54e56869d4be phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d57f2f76-8ddb-467e-9b10-eec901ff540e phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16592b60-7df4-418b-b823-a1f49cb14e41 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d13603f0-ad26-4ab9-bde6-02e624244106 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0915d916-73c8-403c-9d74-57c0006c8381 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4d14fb57-2d0f-4b27-80d3-55bfc0f7617d phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8ffe13e1-2905-4a4a-ae60-2230b1eaebcc phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fcd02b85-0488-401d-9eca-e21a849a76ab phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5097ae80-4b66-4115-880a-5668a5479d47 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5ed7d60-7bd7-4205-a8a9-d839df1db2e7 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:294ec076-b465-405a-9da8-ecddbfcb63ef phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:79f29a72-a62c-426e-b75b-ff74dda73898 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43293b95-9654-4ca8-a8ce-7e795829c8aa phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac26379c-0813-4d20-97bd-25d3295291bf phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f5099ef-86ef-45f0-83d3-c04c0fab3946 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:049b8840-ad1f-4d1e-a503-8cb259446505 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:02f60a69-5eaa-4a81-a1d9-6351016d08b9 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57ecffc1-45af-4567-a3f7-b4aef5babc97 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0c99612d-891a-4268-a9ff-f0f95e956439 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:63a6cbe6-bd8c-421b-8905-e38ad95a887e phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3e9e1fa4-3a94-4fe5-8795-95544a9728da phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4505908c-d349-49f2-9e7c-670c52b3bb9d phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2400b18b-1305-469c-8948-0d48d0e8b9b0 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e00e3005-478d-41b1-9b28-366b9e180cc1 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b766fcf-7443-4f82-9535-da59379cc6cd phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e3acebe7-7551-4bbb-80a6-a23f59c9df6f phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:88ddfcf3-3dab-4577-9bda-b5cb7d481514 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2228c771-2c75-44ae-971d-f2e753a359d2 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1bb31041-7399-44e1-8955-6fd4c96b75d6 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cceb3739-549a-46d8-a29d-4ddb8a51138b phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:06ac54dd-4e9c-440d-bd0c-fd4071bdcdaf phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17f68b49-9fe7-4cb6-b0b4-6b2a47a3016f phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:badab6b0-087b-4ca7-9e27-22c009e9a697 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4093510e-3a2f-4323-be55-267ff8734195 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cea1237c-8cb1-4385-a069-5dd0ecb017eb phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5115415b-847f-4d0b-b1c6-533e7ff36f6b phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb877e89-170f-4351-8c4c-1486b68f8bc5 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:763e96a4-e68e-47df-9640-cf45d4230cf7 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:89b3ee06-fd0d-4c6b-8649-10cc46038587 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35ed067a-e177-4426-b4f0-4f0fb38fa2cd phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fa637e3-789e-4f85-88dd-0a285ef98343 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b96e8619-3e5a-4784-bc78-a6b3f5fde940 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:66dbbfb5-7fd0-4359-91c5-6e1a006ea34f phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2c88231b-b600-4076-8f06-5f2c4ea83f03 phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4e82eb87-107d-4710-a521-66a90e711a34 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:084938b0-513d-444e-bd83-7ac940170022 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:92b58fb8-0275-43ad-9a1c-eda35ee7bc44 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4dd7dde1-c11a-4dff-b316-70d3fb5f2f8a phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:38105e76-6d85-409a-8713-7098b7b705c0 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fa4a42c9-ef6c-4800-92ad-4d0af74bf7c3 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:032f852b-b5d0-495e-bac1-c4f1aab2b8cd phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8f5ae226-c448-41ba-892c-632548c827d5 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4863ae3d-691c-467d-9646-01a92d9beb3b phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9031573e-7a06-4367-81fe-741389d5fbcb phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1d73609-d825-4f86-9f04-c1e3e1623749 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc7cf0d5-ef5b-471c-a811-eb4dbfa90910 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eea1d8f5-8697-47a3-8bb5-e8f6ad208e17 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:525206d8-e886-4422-9c39-1009d5f1795b phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d6c7522b-639f-4670-9daa-e3a182b69e42 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a354b10-f9ae-41ce-a8fe-94e2c575c4f4 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:27bceeec-1871-4f33-a111-aa5fb6d27f43 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:92b8e15f-fc74-4d7f-9a47-f9dc3168159f phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bd8fcbdb-3716-4f93-87df-35751bbf4916 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a091e3c2-6034-411a-b38b-976bc492e0b1 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fdb2bbd2-c58a-4e83-81ec-b552c2374380 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1f5334d-bba0-4e4f-986e-77ce4332a083 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7e8e4c0d-687d-4099-b8b5-db76b109579c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:766f1239-0d4d-4f66-9209-d2190bfc6fc4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6ae695dc-14e0-472f-be9c-ee1539eec35d phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf17f869-5eeb-40fe-b61d-b39193829056 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2fb14d21-d03f-46d5-88f3-2c7cf33693e9 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:528143f7-17c1-44b2-b967-56f52231a914 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:145ed38c-bd29-44c4-b277-9f2ad61bd354 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57d5f7dc-46c4-4b62-a91f-8a116fb19038 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d71677e-85e2-46a3-83d4-91b092345ec4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6cb3adc0-2019-410a-81cb-d246fc3322a6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fffb24cb-b0e7-4a7b-bd46-45dccc28b30e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4f34116b-0978-4b3d-892c-1d1b07a11c41 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1261e306-da1c-4872-b80b-a3f6e98d0d43 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bf65e2db-dd9f-40b5-a569-7cb74bfc090a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d7009f21-56ee-41b4-8844-badec4d3176f phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c006d699-1ab5-472b-8d3b-dd7111bf8659 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b1518cf8-28d1-4b86-b2c0-224fea12e359 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eccb5a54-7a5a-4e94-9bf5-2e035bb1ddea phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7fa88b4-d1b4-486f-b9c6-a42994e9f220 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7159a53f-13db-4c19-af34-c88d00ea045b phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5bb65a35-c5f5-4787-862f-982aa3fbc783 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ffade9a3-b367-4fb3-97b8-7a84a4b74055 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a03ecb2f-6c2b-4cc4-8b26-0335ce13784e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:97749eba-e257-4157-866a-fae468ccff37 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77168d63-ca92-4b90-bede-9467d7f08b0e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a929931-0a10-43c7-b0cc-f776e41bdac9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b6346d0d-2b1a-47c5-b43d-3bf92363c8cc phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3564209e-4ced-472c-871e-a2e75cf71c2f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f30ce004-a71c-4aaa-a3a1-31c316b68052 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:65c2346a-91a4-4717-a493-a4d8a12457b9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3e84a4c7-3a7b-4dee-9c1f-e9ec13208b24 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f0caa988-c4d9-4f88-8efd-26c4436ee3b2 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4677659-d281-4171-9d62-1804b1b39f1a phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:895ef1b4-66b1-450c-a17c-1bd4179f6be8 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c8546a27-2dfd-4c71-a0c9-239c2d83ba97 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae1b6268-bb30-4ef0-a1d1-e9b725b5abf2 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:df83728a-973d-4c9e-94cb-904e7101551b phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eac5df12-294d-4bec-85e1-bc0108e6e1dc phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:46b3a505-6131-4c0a-85ec-1688594f6515 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:68e0e2dd-dcee-461a-b175-dc655584136e phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b7114b7-d76c-4ec7-bffb-26ddce28b415 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d82123a5-4514-4719-a84d-383b6e67c439 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ac62a63c-710e-4baf-bc0a-3174669d556f phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67b9a6f0-f24f-4ba6-ad37-2116df4855f7 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b487cce0-3254-4457-b82b-c041e0a3dec7 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb63c9a6-7a76-439e-9aa1-e391817937cb phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:53936184-882f-4006-9000-dcb8b2ad53ca phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc6d288f-2a4b-4bf9-9d0b-4604ceef813c phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ec499a3-0856-4dad-9e5c-dca0bb8852cf phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba76d1fb-79f4-47e8-b72c-b1367b3cbd62 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ef76f888-08e9-4186-81c7-027eab5e3386 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3d64ba0-5434-4b45-bf9c-fd10aa949279 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:be88621e-e47e-470b-86b9-46f878a4740a phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67af43d0-4693-4b8b-a381-2c1541987df6 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b5302d0b-982b-4b92-96bf-1d4fa213b239 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:88fa74cc-a46f-4112-a3bd-632b5a5f0f98 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aecdd56e-746a-4b11-bf81-96705cc2c907 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:562f6668-f200-4193-bf85-318c4340e8ec phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:531d4a14-5068-4364-8665-665266c6eabf phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:40b13926-ac9a-4b66-810c-89082fbc0d9b phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:389ff1db-2a1d-4d21-99b3-f54a33c5a563 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:89579f74-2399-4e7f-8838-323b633db131 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a57b2eb-0766-4ce4-9ce5-55491bbb41d0 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5bc53da3-f822-4fa3-a280-c46718622253 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2aa43557-cedb-4149-a971-4bc814adc4b9 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:05e0f683-a90a-4cd6-9bd5-b13b1a070585 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:31686afa-4f1d-40ff-99aa-3a21074f6fc0 phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1a2183bb-1edb-44bc-8891-c0a1b60000cc phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d43068aa-0871-4c0e-ab2a-a533d180509f phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e5a4cfe4-d844-4374-8715-85ad1ce05c2e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0af38db9-5a86-4a45-9f6f-7356efca4102 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d609ed11-2003-431a-acb7-80319c7ee247 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:07be704c-ccd6-45d2-8b04-7d98bdf0922e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f4c0ffd1-b443-49b9-95a9-0664b2df88b8 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57c369da-f7f4-4bdb-943a-b3ed22ba5cba phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:14e85693-3c8c-4c76-8898-bd7c2d4eea7e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f9ba91a-44b7-4f6b-80fa-7fb9f4f7e033 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f720f47b-76bb-43fd-9229-267bf3662883 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77d51ce7-4c46-4f1f-a2fa-91f7f72608b1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:856aac18-9996-40fd-9169-cf72000eac19 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ed77c2e3-896b-40c0-8a2f-4e4afece4652 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1b8d951f-ae73-437e-ac0f-0a5450f8a07d phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af559e8f-327d-486e-ab7a-4a530b26d93e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:746df8e3-0d56-4e5f-99a3-b1f57cfae244 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f100d8e3-b822-4676-a119-9b83fc947504 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b9164b71-39bb-421b-a4d4-cf9eafd4369b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:698e578b-c73d-41ba-9ce0-bdd43ed5141a phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85efc069-9be7-4d3f-95f1-898dd21d413f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d54db6e2-bd6b-4a15-92f6-99bc6f13a69c phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:65e51e22-feab-4316-9d8e-3519e607e8a3 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:60c83b39-a8fd-4c4d-9247-2b47f74006bf phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:44b3708d-8eef-44d8-a1b2-e550baf3fa46 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0cecc41-633f-4532-9af7-50068f23593a phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:06041122-6321-4c17-a61a-c9f66a3917d8 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8f8d5872-a909-4407-ad3e-60ac38fd4e28 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ad4fda1-8809-4a3c-b7b1-bfb129d1b256 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6645fb0-17d8-47ac-9de8-92f038b46a1f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d87d48e-eefa-4137-8270-cbf228ef9a4c phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5db2b112-088c-49f6-a539-d45eb4f550db phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4d0c8643-76c0-4b00-b283-ef881014dbf2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f9209eb2-1590-4886-b964-8376d0093d25 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8e58df5d-32bf-45f1-b203-cbd977e8200c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e1afd421-74a0-425c-b2c9-51419df9d369 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43fd0f30-9759-419f-9da3-65c0260ae138 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c765f507-4ac3-4736-8f4a-d118c11384de phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bea50d71-cdf2-4961-aba7-5f2465e5d2aa phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54bf6971-1a4d-4078-a708-12b39e1f1748 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dfd9f69d-bd5f-4b22-8054-e7632c6681b6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a7a213a0-6d7c-4010-910a-69dfdedb623c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f59c47df-5e6c-4f0d-8fcc-0af4869a2f12 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4d5b8169-c6cf-4c5c-b608-950424efee57 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3c0d775f-1460-4d88-8f84-8e8ecaa1312f phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9d63d4a8-c2e7-408b-a228-63255813fd19 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:65341562-d39d-4791-a23a-038909bfb0d3 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24fb6eef-e875-4eeb-81ec-9c51ebfbe35c phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8cf2bb6-5486-4baa-a10d-e70b1cbb2cb8 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b63ea831-4f19-4462-bc30-c893ef4856b6 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:56e63a76-78b5-4171-b5e7-255caddb1cee phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2d7e2417-9f5f-4964-b2f0-2048081767e8 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:131ebd7e-93ea-4641-967e-9a9ed315ad43 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85fa4c7b-30e0-4f03-949c-72f1903d3013 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff8c5d7e-7eab-4514-b208-6e92f86e0dd6 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5311402d-1ece-4f7e-9065-aed67e15fcac phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:733e3d77-f70c-4adc-a864-258896dc91df phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9cac1b7a-07bc-4cd1-8834-df43b55b0455 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e212819c-7f38-4e86-9f64-2cf286de393d phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9ff6e45-55aa-4669-ad33-d916c2759935 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:874c936e-b795-4f3f-bc18-2e33024cfce2 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79b03d9b-1c85-41ad-97da-f111fd9c33c0 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9852d46e-f13f-41f8-a068-ee4dd2c6c67e phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:301aa7c0-7765-4dd1-99cb-270961b8faf2 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:90d6acd3-3295-40f2-9be3-f87bae83baa1 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0c1b92f5-a78c-4afa-a584-bdf49e641c4a phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f26f4541-89f1-4b75-82ea-3c7a4c8f06a3 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16106a0a-2b61-4340-b00b-d7e3f9157730 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ea1adf42-9bc4-4129-a010-be95c8ba33f2 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e8c7138-eaec-42ea-96cb-66e5a4c06573 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8cc14972-05c7-437a-8783-3080402e71f6 phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9c658c38-c7ab-4ac8-9853-f44745694f11 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1cfa085b-ff07-4e4b-8f5f-63aa4245f38a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f820898f-472b-4a79-907f-1a41ec61dd1a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc60c397-999b-4207-a3f3-800a668f1673 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:569f3635-48eb-4110-8ffb-5bab13f5380c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ef3f3e9-1114-426c-ad9e-a14a7a85b0a9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:940c21ab-acf6-438c-a7b7-ccd8b73d10bd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c2fe6a57-d6c8-4521-8013-249310b1857d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5bd662d2-6ee5-40b6-b4ce-8c7a4d65edaf phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fbcc7d0d-576e-4c20-afd3-d5c3601d9531 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1268a782-6082-46c6-a6e1-87945fbf32f6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1b7fa163-fca7-4965-9c4f-8bf563323930 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9079e2d8-cfd3-418d-93f6-10642791a2cd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e44670bb-ab92-4517-815e-4aa8f3c5fe0a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87c5769b-f03e-438d-b2a8-a7af9279da27 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a184326c-e7e1-41a6-b172-3e8725f237c1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bd562483-6d02-4497-a911-b59ec0de2ed4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b014e833-351d-41ba-bb13-b889f9c6fac8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2954aedc-b0aa-4047-8d1a-fa544705ac3e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eebc2220-e516-4fa3-899c-58a6b72b2907 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a51a833d-62d7-4331-934a-f04a4893e184 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59d89908-f20b-4bfb-9943-0f46a5e2e683 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dab1d164-c95c-4faf-ab63-0d67b77c6039 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59b63027-752b-4a65-b107-db4caa8336ea phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:49a49be7-a75b-48f6-887d-0324883b279e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:926501fc-44a7-4e34-beee-3e34b1b7773e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:591dfad0-a78a-4311-a9b9-791aaf002966 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f62fbcb8-0368-4583-afe6-7c928a178016 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0259b1ab-0124-4eb9-8497-36bb92116b87 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd1635bd-1e7a-48a3-802b-f943c364d0a8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd199d0f-72a9-4b9f-a7b4-ec7ae20bf3ee phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:75f4bb24-ec8a-49e8-a46c-cad913821968 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9724d7ee-a0ab-496c-96b9-83207797fb98 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0540e5b-3dff-42d6-b6b9-c08c039bc778 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:02621493-c584-4581-b623-5465cde8e34e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:415afc65-7a1e-434d-a194-696b0f910fd3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:742dae76-98e5-4260-adf0-e82655e4cc3e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93cde6a4-9d17-4062-8526-4135d3aae837 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7c67662e-098f-4045-a246-43fb03388411 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab435c91-90e9-48a6-bdac-3720c3e67cee phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5e6f721c-7d01-4149-ba3f-0bcf32630b19 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f501a06-ed8a-4950-923a-4c0bec757cc9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e93b5042-6284-40b5-9ad6-49945e840712 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f89f3f3d-398d-4354-90a3-4f81323fa44d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4c2f577-aa25-4adf-abf0-a04d3c3c96b0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed08c83e-b97e-4755-a4da-6a75202c30a8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:95266eea-feef-4340-b46e-969aa254b49b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39432ea5-9c71-45d4-bdfe-b4109dc46536 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:afdd954f-d294-440c-ac44-0ad0291f32e8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79b65e04-2304-4fd2-8419-f54e49d29edf phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d72885ab-48b1-4e7f-b0ba-f87938e791f9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03329f5f-8c20-462c-a3f8-c890989acc7a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:541d0ddb-4e78-4756-90f6-556313def0c8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ccc84fab-3b65-4631-afb7-898982aadc0e phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7614f7c-efac-416e-86a4-b84291014b44 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89e0b741-9719-4e51-adad-e194bb92c775 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7e6867b3-6beb-48c6-b6fe-4be46f11a440 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3399081-19e8-4449-9676-5c82807f63b7 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:05a677c6-47d1-4218-9cd2-89f0d4c62a8e phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:849b71b1-dddd-48ee-b0a5-4f780065b010 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:198fa9d3-b58a-4f9b-81f3-e9f207ca3c6a phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2ff0fa9d-4f10-4ad6-89ff-cf37588163a2 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e5c87746-691f-48d6-9bf4-f7558582c210 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7c4ffdf-722d-4492-9112-03a31e8ed83f phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f957e7e-f5ee-4c4b-aac3-6aeb6e8a65e5 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e6fcfdb6-1ad1-4672-8d95-9000f3f6a9c6 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1c2226c-dc5c-4a07-a6f3-393de05a1883 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b9f5a298-d2b3-4977-86d3-bfefba544c84 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:78a29b62-8b4d-42f8-bd87-1c6c8d3b9637 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff619132-61f9-412e-8df6-d5f4127e666e phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:11fac958-89a0-4fbd-bce8-29074769b1a8 phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1167ecd3-2eee-4fe3-b801-a7732e28b01d phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:50456c7f-9db6-49e2-a9ed-827e6c3e2c10 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a5970068-7317-48c6-914d-54480c6182fa phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e133bf61-9d2b-402b-813e-9a8307483886 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:96a4ebe7-5624-4f12-a7cd-278c5cb500db phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5ebeb82-48d9-497e-8a51-94c14dd94f7b phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:886cc4bf-69ef-40cc-af29-e73b1935cc03 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:79aa3530-6a26-40fe-b40d-f1372baafaaf phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:962b51be-aa3b-43de-b5f1-c6305b5bebd6 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d73e0681-dd82-404e-a140-f6a28f68beeb phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59296a07-ec8c-4c2b-b35a-79a65cf16e81 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e1ccd5fa-4bab-4232-9d7e-690ff184c33a phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0dbb029f-14d8-47b9-96a3-5d7763b0eddb phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77acb7d9-3210-44f1-a1bb-736b4f3c5636 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a3befd92-30dd-4044-8852-f2e55e3ebf41 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:db758bef-d903-47fa-bf3c-b9f4d2a9ed9d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:17d64b0d-fff9-4675-8839-ee1b0d432082 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7ecd57eb-de5f-4dc0-9c44-846381cd0e96 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:50122ba2-2397-4c35-9dce-ea4559ac0524 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0388f362-ca7e-4d98-b8f0-56e98516d26c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3b3ce4f8-65f3-42c5-866c-4dc99270f7ea phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3d740bba-de60-49c8-bfb8-b618bff543a7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ce1a7e20-4916-4097-a792-a1836ffc841f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:548116bc-ed1d-4a2f-9aaa-bd15365bcc99 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:40950e59-7dfd-4cbb-9531-1b2aefbeda59 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9d07506f-cb02-4eb6-82e8-8bb7ddc63d23 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9daa13e5-d1f5-4870-ab14-6393373dcad4 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:45005c20-6081-44fe-95cc-f093709c0b72 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fd2d9bdc-6c52-47c6-9597-cba17d06de71 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:71d6dd90-6592-47e0-a682-3e02086a8a4c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5b8e7584-cb3c-43b3-ae80-113c0a108a23 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f9ded960-e82d-4bd7-8d7a-9fbb083b7a22 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c0774db-a324-49b6-9568-0e37409330c4 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2d378fdd-d5f4-46cb-9b9a-e028648d4f1f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d876a42b-38dd-4f93-b975-4ca412fb2d55 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b654e251-451b-43ca-b7db-e1b4053cb4ba phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fe734a1-e62b-43ff-8d9e-1d4e367b54b0 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e1e4ab43-e323-45c2-91ea-416f674fa2b1 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e7bdee5-a7ee-475a-9fd4-e6b02d18f81b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a70f04fd-8c71-4dc9-a91b-9e5269d673df phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5ad1347-03fa-4f8d-991a-149c9210553e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4d1fd60f-9ac2-4933-b34d-2201799dbdbd phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3a93de0-b3ad-417d-b040-6256f3890889 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec15e3fb-4610-41fa-b68b-6ab00e9def61 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b9ed9cc3-6a76-49b8-b6ed-45ed5c71501f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b86e72dd-35d3-4323-8abf-1d986da018dc phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:072a8680-5038-47a6-b21e-fc59f441f57d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:95e52371-258c-41d1-aacd-f73ac9921181 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d3032933-bc99-4a66-a428-5ed0886f4655 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a359f18-2f8e-40a5-9112-ef4460ceb71b phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:21b0a4ee-2859-4c0a-8c2d-e467fc81796a phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:17bda15a-29b5-4d96-a20c-5891bcf221b5 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e5c824de-4167-4809-9d51-ce9094261ebb phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd14fd83-0dfa-4f8a-ac9e-8485dd1447a8 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ccc5fc43-8754-44ab-88d5-47fec12d45dd phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:29261510-0ba5-4d22-ae4f-8b8a3b6bad3e phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cffae78-cb07-4137-95a3-7de3ce095c01 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:932272e8-c350-4ace-8856-bf173403832b phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b1c6d0a-c637-4026-ad60-3a8c5b712dd9 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8768167f-727b-402b-9558-2938434dac54 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d127dad1-fdac-4099-81b6-12fca0d55112 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d0604605-e697-48a0-bf75-2434c0c12de9 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1169ae2-9fbb-485d-8db1-d6051049aa12 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:71007492-2951-4f81-afe5-700260876ffa phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c603627-c37f-4115-9822-2edba7c57f00 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83ac1564-31ff-4938-94ba-207b141e1b0a phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32cadefb-93ca-4c18-ac98-5c5d522fafbb phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:147c28d4-cfb5-4856-8078-3c9851ed9c06 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:290a0d0e-01b8-4c24-84d4-da6aef5e7123 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:052cc226-5c1e-44ce-b736-ad75996d2511 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9ee63ea-76a4-4541-9f0d-dae9a07b4aa4 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7a25faf4-7a55-4b9c-a134-fd406d4cd410 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76ea8f48-e570-4bdc-8482-62cb31c4ed22 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f6aba580-538c-4efa-a8e0-7dd2b4e71d70 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6caf1a4c-d3b8-4dcb-9ee5-d142438fc8ed phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f7795e4c-d360-4df2-b930-7e39dda4e6b1 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c05960f3-eeb9-4533-a799-a50a22099547 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:166b3840-cd74-4ca7-b6ce-998e0baad490 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:21b88385-6052-4409-b020-39f1df6fa307 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:55e00b1b-6e7a-425e-92b1-67a6029622ab phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:09cc5571-1c07-4178-962b-237920b754ec phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2cb53005-9e87-4108-befa-e5173fc43c69 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23fd127a-7318-414d-b4ed-7390524a755e phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:408a6da8-d818-4073-ad2f-90c729504cf0 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:55810940-db5d-4084-868e-1ecff54d6d74 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1df61cf9-c9d0-4295-b808-5dbf39011edd phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6a7fe287-4d87-4d46-894d-0bdb970d7cc4 phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d1388958-f8b7-4d58-a17f-0fdfbb79c99a phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1601dca-061d-4a64-a99e-9614d331dc1c phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:94fb88bc-b761-447f-9180-b8fadf2a7229 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5d3e719-41b5-4710-b61c-7514595e2ab2 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1d0e3ee7-705f-4e0d-b976-fdfedb0fcba7 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0240b536-3dd7-4609-be94-3601719b1b02 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:28e7ef71-2c88-4621-89aa-488fe9014eb1 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:334b9a5b-0940-4bde-b24c-0d59a3ef92c4 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:33fb699a-edc1-4dfe-8430-c04d86e8e263 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:81e84851-a979-431a-a42f-db04016d7c7f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c15c5f65-f2e9-471e-ad9d-91c210513eae phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:17717f54-c539-4459-b729-f9e6973dad1e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:33ac75fd-51c3-4d97-be4d-d6c7abe1eef6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78c76df5-476d-4eae-a8c1-ebe310d18e00 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:405300be-7164-4001-b85b-bdf58b043bd1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f9cbedaa-25d7-45cf-8feb-2ca8c3bd42a5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9898a8ca-610f-479a-b7e9-001030545da4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9b306a0-c051-4bfb-9fdd-61a2fae01739 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79350cad-d84d-4a40-b88c-927401f40757 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4f3284f2-d460-41e5-ac30-3fca44a5aac6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f72b73e-0611-4582-b01f-52af3d45b753 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dbc82f48-a718-4d26-8f68-272b3a5a0559 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:abce05ed-ca15-40d3-9b9a-43eaa3669a97 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0bed1f32-9a9c-4f64-b2ac-b653f005fb77 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2a46db57-6a29-442d-8c99-40d67eb7e4c8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e4a256ed-c725-4044-9d44-085463d0e6e9 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e3ce470-b689-4a32-af57-67196e3faffb phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b8d85785-c0a7-4dae-a0ea-4b706604d2ef phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:679ec96f-ca5f-4764-8cdd-d7ef1af7d4ca phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:abbee960-42dd-455f-b863-f3ba28f7ff56 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:142bd225-18e2-4667-a884-660adaaaf45a phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc870808-25aa-4d07-ba47-546998e7224e phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0a8b357-88f9-4ec6-9e63-8b7965b60cc1 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3d0f6dd4-db4b-470e-bbb7-e6fc0cf53034 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1199921d-156f-49cf-8fc4-fc2dc26d8b2f phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:15496c6e-84c7-4dca-8551-bd540166c92a phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24248e42-d6cf-43c3-b10d-189085cd9567 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e7592611-5371-4d1c-90e3-e696664b4118 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cad74004-ed56-493b-a97c-42016d8af984 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77ec13fd-d046-4728-9f17-04c5cec95c69 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd4a0161-8dba-4825-b8e8-5407d34be56e phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ff02569-1940-4103-bd0e-db28316b6c6c phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:95169a4a-27ff-480c-8b55-60e74cdb74a2 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:50143b33-d76d-4c89-a3f3-01adf245f980 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6396b2d2-0fa7-4221-8eae-9eb8e53809c0 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:62091eb6-4b6c-461e-b334-a2f6ccbe391d phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3db8d9db-e115-452f-9de1-6c3c147ffd1c phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4476a8ac-6e71-4d64-ae65-b46b610505fa phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:80be4b8f-506d-4a66-92c3-178c83119bd5 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:77ffe94c-1bf8-4ce9-9c4d-9118f9cb724c phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8e7ea02a-d813-4679-a836-5afc29c75d08 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c710d5fe-2dba-4ec8-9a91-6834c1c80bd0 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7851b135-49ff-41c3-8328-9bfc45ae3432 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:396aa2bd-d686-4351-8acb-33e63e35d31e phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1d17132-d96c-42e0-9666-260f03d41d73 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:deb04657-d1ff-483f-8d91-225bc501481f phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6050a9d0-53d2-4d9c-9d48-fd04cfe329d5 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e744e859-9a75-488e-8c4f-7af6aa0f8707 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d9af21bd-33d6-4a42-ae47-630c0cbf58f7 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a4a43cb9-3ef6-496d-8e62-4d41c815998d phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:085c46cb-a912-4a4d-b78f-f749e7cef1bd phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d3ed6946-198a-46f0-b4a7-eb6ade9463ab phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd1ab642-2be9-4beb-a2d8-c24d9a9f719a phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:164e3c6c-e15f-465a-8c77-48bb3e821c73 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3efa7a76-53d8-4318-9498-69666e109ad8 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68e8d18f-5b49-4617-873e-9a00b2350580 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8fec878d-5463-4afb-912d-bb7ca6bf94d3 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:481ead98-5ba6-46b1-8928-8486dd602e61 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c36471d3-95d3-4f5e-a4c3-448968eb05f8 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91f47203-2ddc-4ed7-91db-884503a574ec phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4996631a-fcd5-4f8e-a7db-63fcdc85c2f7 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b377e5c-f0fe-42a5-ba67-7dc7dde4c83a phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2deb7a9f-b748-45e9-a336-c23e71c0b150 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aaa44a18-4894-4db9-982e-c98c4a7f89a7 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ce8954aa-f308-4c9a-b3a6-616a4b1de681 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3ae5568-4a08-4253-b983-ddec2e623ed7 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8cc455a9-1660-4b15-8ddd-4c708d45aa2b phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77888faa-271d-4335-92ed-f9254fb8c8e3 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ab0c95d1-a097-47af-ab68-3e762509d503 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:913eb201-bc6b-405d-b36d-56c0eadc31d0 phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c2af697a-b665-4cea-a339-34cfda614af3 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1df9369e-a7c4-49ee-a441-f9754e0c3b19 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:df907e4d-55c4-4da9-90ac-708f258c6573 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ca98159-3c8a-4c14-a7cc-0c088d347521 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:df56a67e-0329-466f-aab8-1dc5de59ada4 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1dde7a3b-9383-4f6b-9324-677f8fca4d74 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0072319-f055-4207-aa48-7e4857fdf920 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9103c3e4-e81c-4de3-a64c-34d9f9b886f8 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79e8b1fe-7d66-467a-936b-0d9a18d98230 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1e3b1586-b3df-41b2-a351-6e21b5565a38 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5345da0e-1472-49a4-b860-848a9d8c3de2 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:df2554d2-e2b7-40b6-bdeb-7ec5ff5c55b5 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2bd3bea3-ae11-468d-a781-a24669b6c0f5 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f1f06d4-b727-4a79-bebb-a46f19a83feb phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc4290de-8ba5-48a2-adad-49b7cc8d2561 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc267001-0de3-4182-bf23-841903aeadca phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9610caa9-6715-4692-977d-2b4679840cca phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee330e02-55ac-4532-8474-f240b180596f phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1488f6b6-08ea-498e-8921-00bee775b81f phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cfe459d9-6c98-413a-b98c-a6814f47ea67 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f7e7001-c308-4633-a72c-3892011a837d phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:458d8d88-2fca-47d5-bae1-d2cfc33d1e45 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e0a5a89d-11af-46aa-8c62-9e09329ae81a phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:37588d68-023c-4489-9c38-c5523610a138 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a76a9255-08f1-407d-813d-5b1abc487925 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4bf754ba-97d6-4a34-bb8d-f3d7e3a019dc phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ca44140e-ddd7-48f5-a3cf-74bdfa9b7c5f phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bce702cc-f329-43ce-98b5-170c4d6ac763 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2da6a9cc-343d-4120-addf-0212ab3c25e4 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc419412-3e57-48c0-9665-7b1fd237de84 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ececa71-e79e-45fb-b35b-e12fe5decfe2 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:775005bb-a21e-4a8d-bbc9-87fd8312f043 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c3440662-42bd-4487-89bd-5bc8ba91e425 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4e5a3252-b925-4790-9305-fec28397ee99 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6cb9fec-705f-45df-aa2b-a093ff431c4f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:373e2618-557e-48ec-be1a-50d2e17743e3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:014e6bc5-524e-4a70-8fce-ee485686e00a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:46fa9fa1-ece1-4f47-b334-4194043a8e6c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2d749314-b5dc-41e1-9c5c-9d300b780e33 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:41c5d5ee-cc11-407b-8b6a-716abdc02bd0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cdcf8d21-059d-4103-b819-ea155e96b35f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:995af940-cd3c-4012-8085-670c1d6ea2cb phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:29c10050-38b9-4de7-acd7-0878928d69c6 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0c6c19bc-ed4c-4409-ae1c-23f7b4dd98fc phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:530c5501-1615-4251-9fc6-375785784384 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4dced78e-d8ed-458e-9bb7-fd0c3aee3649 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:30f5434e-04ac-4b95-939b-6d4858a69cd9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:19311e9c-ac34-4c37-b69a-87547640e434 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e8a10c03-0f5d-4ae7-b1dc-b246dc3e73aa phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f07175a-eba8-4681-bf95-b97df6dcbd2d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dcd5a62d-492e-4d4b-a5c6-e80357320096 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6124ea4c-076f-43ee-904f-04fc48444419 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:450f4a44-dc49-4da4-a4a3-69e9ff19b7d1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:48204e7e-508e-40f1-ad6b-0986c1e33ae9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fc379c40-b72e-4939-9721-0ef5d31f52d5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:35ff804a-5d9c-4bce-b86c-5b012345abad phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:53447f16-60a0-465e-88ad-93f7f3533ccf phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:67767088-5f9a-4894-9087-6a0a416cb119 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:46977488-eb37-448b-8800-695d266b2f80 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6904314b-49a1-4476-9811-8b543214fb4c phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e88d9665-fc6b-439b-9ba9-e0e52655b834 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77c79e6c-fab8-453b-839c-83fede43c798 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8b81dd8-26c8-4e2d-b0ea-0a650247a499 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:983e2e98-34e7-4a28-8013-ce5572ad3e02 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a9966404-74cb-4d31-81a7-c8817a1bba8e phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cfbd864c-d143-4414-97fa-5ec082fbb53f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dfa7a3c2-9e53-4991-8435-7b412c56a57a phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6435baa3-68e0-4061-86ed-10d9c7f5270e phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8089bad5-2579-4e47-9e38-99bb66c35bf0 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a2e4bed-4e90-49e6-9865-3582e7cd5149 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9d6d4956-9eb5-4951-8445-7cfe0e5c86ff phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:44df3967-2011-431f-ba48-047edf7981ee phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4c82629f-815b-4888-8ca9-4098e301a920 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7f657f96-7242-4339-947a-52461cdf6adf phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43cd057b-2b0d-48a2-a3ac-221e3b9d6d9c phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d60f4d5-5413-4a26-b098-4f9efe9361d6 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f7e44580-0acd-4dcf-9967-26014f9e3989 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0a0edc21-0a09-4e51-a6f6-59482e96a01c phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08aee8bf-9342-4943-a8f4-99c7a6b69e7f phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:370c8962-3696-4db3-b0f1-c176260492dd phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12f842ef-42a7-47a0-be64-96a0b66492ac phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1d6b4ff0-20b4-4b70-969a-298aba720446 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a580e41b-7be8-4860-b709-c93d3c8a31fb phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f98ac0d-7974-4376-acba-7fc272061609 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6250e1b4-4325-4cf8-887e-a1978227d2b6 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d7d8ad1-ecde-4a73-a1c2-d98f9783edde phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:15dfa391-1ab4-4a00-b2f9-463c480dc147 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4d877879-8b69-466c-9e2c-c8d4f739611d phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a5e52a01-4e03-48ad-9b9e-317f2d28c27f phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f03a86cc-922f-4e8e-9fe3-edfa3e3efd8a phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:683d07b9-ef20-433a-8b94-0f545bb70b6c phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4629c78d-375e-4b75-844f-675a5e6d08bb phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0399ce62-5953-4892-bece-e647a7c8c843 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a69c9d1b-eb7b-4294-8e51-b5aadfe50b1a phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d92e931-bb8e-4575-8bc8-cfd3d9b1d351 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:184e53ba-be47-40dc-8047-3b48982f2a62 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4c9d2253-c8ad-4dd7-a102-2a92111cf457 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ca989393-10d7-46f8-9e64-a259f0b5bcf6 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee13dd8b-a9f3-416f-bc34-4c26e081444a phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6713cf90-480d-4f99-8fd2-19a5610a6e38 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c9166fd-b5c0-44a4-b736-d1995dea03b4 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:27d984e1-5c14-478f-bfab-b0e9d4b78e1f phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd1adf5e-c988-49b3-95f6-16474f1d3e91 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3344166-f4af-4cbf-a575-b6d280dff406 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:89cf7926-0d43-4336-95b6-a5001f5afcf4 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:388e1753-5303-4eb6-a50d-fafebb7ab812 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8ba0a30-38d6-4de0-91e0-b4e5f26f5242 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bbf13785-722f-4f4a-8282-23f3b5e08698 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6523048e-8f25-4489-917c-1ce554a6bb42 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37101b17-86d4-4a58-8fa4-9e80c08bdd06 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:28b6a354-0af1-4691-a349-2503d4ec2922 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6cba1c1e-0769-44a6-9767-80db9c13e5d0 phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e28bd9f-8524-465b-82ac-9640c0f0044c phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f618eea1-abd2-4a6c-a6a2-67a376c119fe phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1c9621a7-c082-4808-b080-3e8bed064dac phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f098662e-fbea-4336-b607-6338b42026db phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0eabc60b-9e60-470e-8430-d2be48d1c582 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9fc3a882-a8b6-4f4b-a30e-409923588bc3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2326ea2c-d43d-4f98-9959-dba177d4b6ba phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35b1b386-35e0-424a-ad93-834f13d212a2 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b1e397d6-637f-4442-9690-c8a853c81315 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b7230a0b-66da-47d3-a4bd-6e0aa8438632 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7ff2ec01-4092-4d4b-9bc0-bb381d9e9e39 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:999eafcd-ec92-4dd2-af18-08e69927acf0 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:96ea7dfb-57bd-4e81-ba5c-951acdbaca53 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0314c0f4-e2f8-4069-b424-599544d85aaf phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dc599841-4772-453f-b4b8-85a2a615feb5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d0dab94f-85ca-47f9-a953-6e297e31f3ac phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9d0f43e2-efeb-4b1d-91bb-a7093c51e4ec phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6e30f6e-8f1c-4b7e-b613-8fe724d1f61e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ef2c991-d1db-4623-ae6f-c18da3d7d38e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a1174603-a374-4cfc-b80d-640118129510 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:63c13668-d7dd-468b-a2e1-13a57350966e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7b9f2cd4-a9bb-4f60-a62a-a4f8d225661c phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd028455-06f6-4c0c-81fd-a4309881d323 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c8080a2-e141-4171-9ec1-b50f09f089a5 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c9593d8e-5601-497c-bf01-94fa7eee06fa phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d6be1e0-d813-4f78-a6b5-72f458a64aba phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:adaf4272-5031-4086-9350-46aa6fafc34e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e05ecc5b-8225-4961-895f-526fec406848 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fa98a133-1689-4eb3-ba27-77b2dd784704 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fdfd636c-21d8-4d5c-905a-a5d995a90cf0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cdebb9a6-923b-4139-97fc-0201e7cdece6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1cec9675-9dfd-4edd-998c-3a783dcf800e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84ccbd5a-c103-481f-8595-c5e5915e1da1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d243cfc-dfcb-467f-8b69-ce8e3f88726f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ede94b62-6412-4d37-97e1-8184330d3bac phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ce04b20-7a1b-4ceb-ba9b-f1e0c2adadd1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:42356b93-9eb2-4f2e-bfb3-044c2b72f9c5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:022a2f38-0303-4d75-a9ab-e64e02e33c63 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01ae9b6e-146b-4fbd-9ee1-ce0ba8ac000e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:291ebffd-153c-4fc2-8c86-d6dd1fea9f74 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8cf2a6c-7a52-43eb-9132-25c6e2e1ea49 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:62bd3479-25a4-469e-ac7b-dfcc6c7b1a09 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:efe34227-f267-453d-a188-1ca49dc1092e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:600b9e05-6aec-4ee6-b8c9-84059eb5137e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e2a26c99-5a53-447a-98c0-c32db1e7c7c3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:353dd57e-c894-4988-8d40-7f61be27212b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8b0bd56b-93fc-49da-a8ff-582b87ff76b0 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:73ad0d04-99f7-4a25-811c-3aaccb07c904 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd95451e-5675-44e4-bf0e-a4a8e29aaa18 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b78824a1-3525-42c3-82a4-10b65d3a82a6 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e0edc29d-fc88-4cc9-8d91-a1107d7ed88f phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fcc0cf7e-b2ca-49ff-964e-e6aa84453cbf phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e97551e2-c763-4de1-9eed-4af7c75d2ff2 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85b459ab-648a-4651-9bac-d9a38c457eff phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0484578e-1b2d-44d7-8862-e609b374ac05 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19b119ff-db99-4225-9785-8213a4fe989e phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:14f8df13-f38d-42c8-ad55-dc9961f8ae8e phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fc4f1f75-ef7c-4bd2-9942-980e8d59ee80 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4208187c-80fa-4482-91d2-ed5c66f82e2e phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f24b0e8-8049-47c6-8d72-83c1b2c1f074 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9314bdc7-c614-47b6-a350-c6a76b0c27ed phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e0d87de-b676-413b-b525-8c498ca3d46e phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ccb768c-1dd6-410c-9546-08fdd3f345b8 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7e7d4d5c-90bb-44c6-9849-8b49e1c2844a phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20e6e69e-fd59-4b58-a96a-4645cfd46bba phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ebc3b7b4-bfba-4936-8aaf-7c549ac561fc phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8e58c471-59f0-49d8-8640-b390473d453c phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f3b84849-52b7-4482-92ed-4e8f7789f53e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf47d8d9-9ef0-43cd-9bb4-5848450e072e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e889c0fa-8125-47dc-9796-00c34885b69e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a835d76b-e4cb-4c96-a341-b00f5a709875 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:66b9aad1-fcfa-4216-9b84-a037e6941149 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d06e8853-ef09-472a-82bb-82ad9dd3f0fb phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae27bc5e-3830-4540-b802-3d69ec323f5d phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba2be55d-3ae3-4a24-a86a-eb983b6e1393 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:527451cf-ee42-4854-9d78-439e1f95f142 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:270cd372-2238-477b-a441-853e4987111b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d3dc42f-e211-4d86-9fb2-357f526fb256 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1763f24d-3e42-4c61-9139-0ce08129568a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ca72efb8-a1ea-4d4a-a520-8df371f281e7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9bc0b0f1-59ba-4034-a215-49953c8c583c phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6851a3b7-d659-4e50-8af3-01c9918d0619 phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85350ef6-31f0-4dad-bdea-b8bf3bd46e18 phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4ac4294-28c5-468a-99da-42a0f71446bb phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0216885-c279-488f-b064-a9e491d07759 phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76915d55-63d0-46f5-b876-7ae119069be6 phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:53441715-0237-4af3-8bf2-86b9e7c8dccf phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2a5c19e-7c92-4443-ba3c-6c0b676fc3bc phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a506eb1c-3162-41e3-89dc-31f500744d4d phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:018ddd6d-9634-4e68-b19e-2c1051c323ce phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:de57ffa9-1b2f-454c-b95d-6a81d90ea675 phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:98c6d757-a38c-424e-92e5-bc94ce984e23 phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:073c0001-b560-413b-9806-f0f12e16081f phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:37a1b58b-922d-4169-ad30-e305542c907d phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:91f665b4-a427-4414-b0ea-be462f7f8f54 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7df23fa6-3719-45b2-8228-e3bb1db6023d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:faafd90a-c63a-4806-b93e-7b684f48dfee phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e696124d-516f-4b15-992a-1cbd7a117e15 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c277a8b2-6a68-4e17-b6b4-de156d6461aa phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4afcab68-a7d1-410a-861d-4ba888693615 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:def4c027-58eb-432c-8c50-9f3e00d7b9c5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b37e5457-710f-40b0-aa49-39ee26f8af67 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:67ffc419-61af-4170-a36a-502ee430817c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:719a3813-337d-489b-ae9b-fdea96a7614c phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9ac5078-6c39-43b8-8a1b-8f36399473e8 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a5f2e615-3d72-48a3-99a4-03a98b47ef21 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6d56c262-1c0d-4264-8c80-2449602b01a6 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:99d58791-b1d9-4fc7-9407-38ef7b861164 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:97427da8-abe5-45f4-a808-4256ecf17e2d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3ad10d40-3301-4c04-b7d4-ccbacbb72e27 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c993dd9a-0020-4b77-82dc-631936963054 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20787219-3a1a-42db-b9d6-d9733d4071f6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c28c5aad-5598-4ca5-9d4c-b01413445aeb phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b061bfb5-4ceb-400a-b8f1-17533f3f7dd7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5e73d0a8-7a14-4c51-8ce4-6050ceb09bd7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f48ec38d-1449-4512-8ce1-705cdebb0e53 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:50463646-a856-4cab-90ba-46ff014c2eb6 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92f3942d-51da-4307-a743-9ac2faf2c01a phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe7342fc-4ff5-4f89-ab14-d400ce1f0e78 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a9cf6c2a-1f23-42ea-9e7e-75c63cc056a9 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7598e162-1257-4b5b-b0da-e62ff8ee8cb4 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e48bd108-1d62-4f0c-bd8b-239a2ee45ed8 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2725157a-2bb3-4ff9-840d-9c3b975d70bf phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7b87b207-20b9-48ce-a9c5-343ec22a0b3f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:daefec73-eafa-4d6c-92a4-42c6c313758d phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e09db00a-3099-4296-9c8e-162cf0ae0a10 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fa56c2f-74da-4e42-8ae2-e190f2b80ec8 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b02f66b0-ab9c-49b3-879a-34ff515f0a73 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:584320a0-668f-40f5-a74b-62452181c92a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:65c00301-0e6f-4074-bc0c-54448e3aa141 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36946afb-1415-4e40-a921-257e1c6fa635 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5861bc19-508b-4663-9077-a97e7c2277b1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67c7e30f-70aa-4a46-bd2f-3263102b433f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:98640f8d-d578-485e-a32e-72e5d803ce51 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3fc0688d-b125-43ab-baa9-8054ffd0aad9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b88c67e-28ac-4b1b-a5e8-43bfdb2d881f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf1cf155-ac76-4402-887b-1ebed92eef6f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:75bf86bb-6bee-4730-9823-039499bad011 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:52740eba-3749-4e81-ba6a-9ba1b0aa6080 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab364d3b-1e40-400e-9a9a-4abcc12b2636 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4eb4cf6-57d6-4053-bdb8-649fc5c94ffc phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7fb719ac-b3f9-42d6-8cc2-42376c5f09af phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8edab186-70a4-49a0-86d6-0ec5bef2c442 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9349e4f2-ea31-4f59-a8e0-b64914859ccf phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43bb73a4-a302-43c1-9835-2a88619a65e0 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:abb9d6e0-b123-4102-845b-1af0e63e966a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d442bc7e-3e4e-461e-8bd9-36a7a2042019 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a88135af-9590-45ea-abc3-0399ee6c7e82 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:718e7271-4d9f-4d2e-bec4-4ff0b7706483 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3919e40a-d427-4be0-a245-9aa61ca9edf6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aa8cfd4d-e071-49e4-8e32-6f7a91b599e5 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef54b473-b1e6-450d-983a-c9b2991428fd phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d62740cd-72f5-4cb5-8130-13bcdaa1abde phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cb4de42c-1bba-4f84-b59d-0c353a585832 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09410ed7-1d7b-4efa-8a61-b0df95f5910c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dfad12dd-efbf-45d8-9d85-56e8a5ca8e33 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1f99950b-b55e-4b5d-ad1e-8665b00c98b2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4643a889-7327-44c4-ab4b-a64bbe3f91b7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19a18484-cf2c-4355-95a4-65998a2f4b86 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63b525e4-1f66-4116-9401-afbf0a8bc428 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:868bd9ed-1a18-4b57-9721-5df5e7f7430b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f07413af-2db2-4181-a547-ea5dffc97847 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7aca7205-730f-4452-8095-aa04c57769fa phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:57f6ed8e-21e7-47d7-829f-38936bb834b8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a78a3741-841b-426a-956f-268e8281fe5f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3c71702c-2f07-4a65-9a02-bfa8006746de phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ddddd27a-8958-48a1-9301-004cb6402c56 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:329fa352-8385-4cc5-ac19-34c503a85f14 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d3b5acf-a03c-44b0-b406-7c072907a5fa phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9892efaa-eb30-467f-964d-4fc0ca12b021 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9f6fb26-6f2d-4274-834e-5ff0ce5b6730 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6362b996-8046-414e-b50b-a48615869386 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60610743-5f63-43f8-a156-184926d2a6d6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f0e9daa-6687-41b8-87ca-5f4a240792be phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7539471-98a7-4f12-82bb-8c10224df678 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:312fe0fa-c693-4765-9197-4e741563f05a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:11396550-4fbb-4d2f-b719-c57f35d94f57 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c500c9f9-cd39-463d-9e3f-3225a6befacf phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f48e58e-721b-4495-af9d-d5e2ceed7eeb phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbfc637e-0442-4945-be00-e715e7e084cc phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:88f0cf59-2f08-4262-9423-348c84510493 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d74c8beb-f304-478b-adfc-6afd453e6c8d phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:73938477-9ef8-4f72-8419-88ae9a32e05f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51ca7206-eaed-4ceb-b824-c3c8b85d99c5 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f953ae45-4c47-488c-92ed-3feac217fdb4 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1e23e4d-0580-4287-a252-41de8e9b6826 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64a8311d-1329-4dd8-b9cd-d6bf93486cb7 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85f65278-051d-4b2e-915e-2f6780508763 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7f902715-825a-4eef-9552-4840057b2204 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:40532ff3-a1c8-4f39-a1eb-ef2450944d45 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cf5eb5fe-443b-4047-9c78-93d5280e3ad4 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63ad9bd2-2d19-4c60-8377-2a357bec171f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a836e818-bf6f-48aa-a99e-9ca12395dbb5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eb3bc765-220c-4562-815c-df5f335e7a2b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2306ce7c-ca1e-4001-ad62-bda1b6a8ed19 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0eec1fa9-db81-4632-b6f5-2e9599aefc1f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:529ed9d9-2dc7-41fe-9ec4-96e6cba02c63 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2d898655-3fb9-4cae-9e18-4983a6953eee phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6dc70dc3-a539-4a70-96cb-643710d6970a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f92824fd-ca1a-4010-8716-c83584233507 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20cbef93-f42d-4e8f-8d27-6e8aa8aba968 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c4a94a7e-6da1-44ca-9df3-8464b2b4ae53 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eec9c4f9-f7eb-48a9-9170-10e04a032039 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:165a0b71-3f3f-43cc-8d9f-824ad6e85ee6 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4608148f-39ed-491b-b1b2-41d91ef0fc93 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d267337c-6802-4fd6-813c-ab429bd242bb phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d85d268b-7729-45b0-aeba-8237085e84e7 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae628279-f83f-423b-bc92-c2ce9aa86d72 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:be103cbd-4cd4-4024-a833-34558e59eb8b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a545cad9-121f-4848-ac96-f86c321720bd phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3fc24edb-5a8c-41c2-a4e4-bc744dc6d1bd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a28dfffa-6cca-48fd-9207-7c613c7ba8a3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a4322fe-05d8-4172-958e-5418122e770f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:98361bee-f637-4d25-80f9-ef07efae6df8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fbebe501-12a4-477d-a52e-991b139db1d1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:837383c1-58e1-47e7-b785-22225ec343e3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2bfdc53-fdc8-4e10-a729-18d6fad508f4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1e2549a-dc57-41e6-88d4-b74b61d965ed phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:977ae552-4440-4e22-a5ff-ebc55e8c790f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7cb84499-274f-4da8-8044-7d5f5d623792 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:25aba7e4-bda0-4613-8256-4cd7e6bdfad3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7fb22828-199c-46bc-87e1-a32fff907431 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f81f02e3-0d5d-43b6-858b-5434c4a20028 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54956c19-4f36-41c5-ab5e-b39723ac504d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1c5d687b-a33e-4db3-bdcf-64e7355217a4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e517dd1e-f58f-4832-a0d8-6238c652ea8a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f8749fa6-477c-40fe-aaa6-6e1c9adacfe7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:454872e2-3832-441a-9449-8a39941ecb48 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ad82b50b-d06c-4bf4-9b92-34e8395d0580 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ce976f26-69ad-41fb-9542-0eb93ee7462b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3843044d-2828-4a9c-9d17-f317df4e767d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6474bacd-5464-4e3d-a109-33196ccca12f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f00b311a-4d98-462b-b9dd-22be0df5fa68 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:92958fa7-62e6-4d35-8d9a-5d726e7fee60 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dd3657bf-2be2-4770-828f-badf61a0c04e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:01cbd42f-7c5b-478c-89e2-f7baee239cb6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c64a9760-4df2-4d88-87da-0fc039515a76 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:673d5f3d-bb1a-4cc1-94a1-8902e4d49c62 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7e493d97-1bdd-4760-8817-b9b813c39d29 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92363419-192f-4132-844d-dbd278ed93d4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:484b908f-6ce7-489b-acf2-ed4ee794b490 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:daa63e18-a03e-4931-b390-88a76656533b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8449e9c3-fcf0-4222-a283-084b04a37527 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24a6fcca-ad17-476e-9f5b-785884abf246 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28068cb9-a04e-4841-a406-7cc471a14123 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90e6db68-a912-43b0-bf30-b7bcfd14d798 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3fb7730-46af-444c-9809-84690788bef7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ddfb1ea-7a23-4573-8faa-e25319098096 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87c90619-6a56-4288-a19d-8bfc2f39fdfc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6499bfd6-09a1-4d7a-91d4-3da9f4a644f9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9842ca9-4291-4f26-875c-f8a34d397ca9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f055979a-3831-42a2-9903-c906faee493e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b99b6f4-92f5-4fe5-9b2d-679a1cc8cec5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d1e047d-4c57-4cfa-8600-13e4660235f4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0849d3a7-04c0-428a-9670-db148f7bb8ce phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:659690b8-fe71-4a5a-a590-722b8c4fe5d2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:46a40144-c6e3-447d-9cf9-a9addbd45642 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b984d825-c2a5-453d-b270-744388497b9f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:44ef4d68-05b8-4aaa-899b-5b9f5f54a020 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b293e4c9-b0c3-4bc1-9310-3dab0610de0c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1fceca93-d161-4d35-923f-b8b3d11e56d8 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e0a17da4-568b-46da-b4d8-af3d43324f03 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:760a2ffd-1a56-4e3b-881a-ebac6d73c152 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c8862f2f-7186-41e8-b1b3-d572a85b16bc phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:400f7180-6d57-42df-ad68-0a51f457e6b0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ebfc627-e72b-45df-8580-393490a98fb2 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:afc52fcd-56e8-4296-b7dc-ef0f66cd8feb phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:659b4473-3faf-463a-9cac-8b805f39cb3e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6cd319b5-1698-406b-a453-4ccdff406115 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7722b8a-b1d3-432e-a53d-4cd71df1ae7d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5c80243-02be-437a-942a-9a96e0e9a9f7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1c92f15-93e4-451c-97c1-eaf00d68b2e2 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b352c72-796f-4021-af7e-3250fcd1a815 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8729c111-c23b-4621-8a31-06865b9b0891 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d77fcedc-376d-4a4e-b1cc-e17354c686f5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fcc86ee9-bfa3-4f2f-af6d-dbe3c652569a phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22636e6d-e8a6-4a07-85b7-2d33c8fe5db9 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab6864d0-25fa-42e5-be5b-f0772f223c8b phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3661aa3-6b6e-42fb-a478-41cdef1887fe phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8ce0c231-fbd7-49aa-806a-a8e8e3f11d4a phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1370123-7711-4a5c-be92-d5932dabff69 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e1279bc4-8fd8-44e5-b78a-314d4f433dce phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1c1f8082-9c83-4880-8607-8188bb2a074d phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bd73694b-97de-493b-8523-128292a7c3d5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:71f657c6-9f3d-4576-a213-791c999d29d6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7e435b4-2b5f-473c-baa9-ea49d9e670c4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:be7bf7f6-f646-47c5-b3cb-18fee392dd3e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e961d615-83ff-4921-916f-c25e7e1d0cb2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d9e3f0bb-5866-436d-825e-2b0be1d130b9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0bc1e065-7096-432e-a0fe-39edb30ee8e9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0fc4f672-0688-42b7-b706-8f4e08ce572b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b6aebded-88af-4a49-ad47-a8b7c14cc5bd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6f13e91-ba88-42ba-8402-cf332df36739 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76ec4326-f943-466e-8e2b-f426d0c4ed1d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dfb3bac5-535c-49a5-a8c9-cef08c27d05d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4abcd6d-1021-4d69-9a03-ab792d1cee7a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:08fb9d4e-4a3c-4c8b-a90a-9affc98cb0be phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f2042621-1899-4828-b6bd-b0bbcbde53f8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c595cc5a-402f-42d3-9e3e-e671c605b6ad phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:12577e40-af9f-4628-910e-ba2ca46ba531 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7e9a0d39-5c39-4f17-ad23-118f159c56c7 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:223c5ff5-1c8b-4261-9c20-9ddbb3bb766d phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62a91dad-12f8-4dc6-9443-56c59fde4982 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4968de00-f7bf-4556-a83c-716ca1a65de3 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f1b56d0-3675-47c3-be83-5cb85ca38379 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20f38b6f-8190-4778-85f2-51d925333c14 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2155946e-8403-4d41-8690-8d09c27f463c phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:be58b35c-5b0a-4f68-966b-235332e2e6d2 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0df22efe-ec4f-4f89-942c-129de041ed2a phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:56e723ef-36c7-48cf-b0d3-d282077e92bb phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:baf5c8e2-a450-42b6-901a-10f4ea4d4389 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:15233c4c-652b-4051-ba89-2e2c0d0fd0bf phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:73c46d78-2589-48b7-8801-f51608e7c547 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63673167-3d53-42a8-bebb-28afa1e77660 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3b82a557-e7ca-4057-b17f-780a2e18caa0 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:96804f2a-f12d-442b-8111-effa7696a8fe phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f70b2826-4da3-4506-ad40-c4c4523348f9 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e1939a60-2d53-4695-a0f9-cd0d78f2f433 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b8aa2ff-dfef-404b-8da2-4c14d7e01406 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c12765ef-869a-4fe6-9ca4-63fdfd13e4e6 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f8f42e8-c6fb-4ac0-8675-72689464da20 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d31e37c5-660f-4c4f-b29e-e8f6bcb6be74 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f8bdcd8a-17df-4b7f-8dba-1318b115a971 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f3ad837-5de2-4d24-bb86-902aeef6f81e phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf890c5e-0851-4aa8-957f-bc9c8617a829 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ee94b95-7420-4714-bcc1-429375fc10b5 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:be41e4d6-c377-4166-9bd4-91b093a6ff04 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f014237-d7f5-4ffe-b998-f6be4dc2308d phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4249c4a7-47a1-4698-b9f9-d4f5fb033a93 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:355ffed8-438a-4dda-a12a-d06d872d9823 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fd3f5f7-6d24-40d5-b8ae-f96494aed5c7 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:74e2548a-7b2d-4fe6-9b16-5e5a0cc9e9b2 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ef329172-354a-4bea-b771-2675f17bb5fe phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48b8eea8-aa3c-4b49-ac4d-161b906b404a phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a9e7847-5add-45b8-86f5-704e3ed5adc2 phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83d58231-7b8d-4d53-b9f8-1505bec9938c phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:303c26e1-693c-4fee-9613-a22afd8aa9ed phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9c537f1f-a055-4024-ae7f-1baab689ce39 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:54e8735b-2237-4899-9949-98ffb46376ca phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e78c11ed-12c9-4dc1-b4e1-aa8e14d3548e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b88a733d-065a-4070-aa44-7b8b4945c1b0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b5d3e1d-df97-4a26-887b-6af0987505fe phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2d5ecbb-584f-475d-910b-a527a95a1e8c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:58f659e4-8b38-45f4-8b0e-ea7d095aa4f2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d74e2e93-9f66-4851-9bdf-faeb9242a44b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59e29d08-8f9c-4976-b554-5b554aa4240c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48cf6dcd-ce1b-49c2-a442-77d67cd0562d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf040253-7e47-45d0-8378-c92416af061a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1051eeb6-fceb-4ae8-957b-d33381641111 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1374a65b-65b0-41f4-a164-9f0399c558f0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:474b4069-0391-4696-addd-42bc5487926e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:de0c0ae2-44c1-48d2-85aa-41f1dd94bdcc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2bc09e3d-4e41-48e5-8288-8d7ebc45fc70 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d67cd229-7628-4d3f-9695-a368e537a360 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd520afe-a434-4730-b2a9-d6b5393d8017 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:13142fcd-2d2a-4f56-82dc-aea20a34f466 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a05fcee1-b83d-4cbf-8219-e1208a0086be phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c88e3468-3b6f-43cb-b09a-834d29eddde3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f780056-61c7-4411-b4d8-2d588f72e25f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:12dc82ed-2ad8-47f0-844e-e2198f9f2384 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f2e13004-fc8e-4761-b996-68fc50e2c3a1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0b412bc-8ee4-4ec8-878b-6286972a07c7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32779f95-e553-4a4e-a62d-0901aa9a73f2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:24c68621-d260-4562-9d7b-db000c6374f4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:613cc58b-a672-4e0c-b503-077053f91142 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:49dd00b8-8fe7-4df3-8bbf-4368d3e08eb3 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e914bef3-2f22-4476-b933-2fe6e5f704fe phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d9920337-4f8f-4894-9ba7-232def9aa46c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1221ece2-0376-4b1d-8ad8-0d472099189c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43a5c7a7-48a2-4874-9287-9f340c92a3d7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51f51f9b-636f-4cf5-9ac4-05a16bdc1daf phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b232cab-cbd0-468e-bc9d-e6b84908d1f9 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48f27f54-21b4-42d7-9b2d-9f195afb6497 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:006f54a7-fbbf-41c7-8ddb-a2d63dce0375 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:245363fb-1744-40b0-aa0d-7f133c724496 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:358df125-3e86-482c-ab42-c297fac9283f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b2e2c25-ba09-42ca-ac1d-51e04c44da3b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bd54804f-750a-4dc2-9afb-53e03eb82521 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f5100f80-b7f4-4b67-9ecb-3ec77c6f3909 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d36cd03-4366-4512-9f73-5245ad35af29 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:05c4b435-802d-4d14-b959-3a7449581882 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2f90e0b5-b886-4117-9a01-426884817bdb phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3cdcf987-9629-43b3-b2c9-1106e52f7a4f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8425e978-8f63-445a-aaa1-894239c93fba phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:41c461ab-b135-4830-be22-d1567d6b01b2 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:32c27a7b-e3b7-4c84-9479-3d1a9eb0e9f7 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b48d0f26-9d5d-4620-85bf-5345a22b7615 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08061e82-b9b9-407e-8ece-3d1f0b0ebc3a phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b126e810-f6ba-4380-b3ae-df9d50302200 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:234c7bcb-3eec-4b8c-a2ce-fe9a9b7cbd75 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:72826ade-3880-42ee-9a48-92a8a6538a43 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:927981de-47bf-4ae9-a8bd-f85421cabfb7 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0a829eb7-8c29-4dbc-b033-66d8872e1492 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:07ff8610-c361-4bb4-8740-a48c81f6b3b0 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9bc1738e-31b2-4a13-a32f-6f93fffa5dca phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a0e1c97-1c91-49f3-a7f9-2c62d7412c2e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbe43df4-16ce-4121-829d-11c18ddde7e0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4559dc7c-7adf-42ca-b92b-b0c6d4d6ec46 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a70befa8-9d5e-4735-86ec-a685929d3f7b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:67f3364b-8a92-4748-9f63-323f0634aa16 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5fdc8a25-f2b4-42a0-a9a6-7139a6e4ddb2 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:30b0dafa-8345-46f2-8f81-dd4e86fae28b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6b062bfa-dbbd-4a7a-9adc-bf706c5fab36 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:519b88c4-231f-4ebb-9426-38de6dca7a68 phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fa5a0b48-641e-4cb8-b698-3744191e53fe phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f3ead489-be96-431d-abb7-e029b9fbb7cf phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3527d899-8b3e-4329-96f1-93f31445e635 phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48f08807-9b7b-4f11-9967-601baf49a5ab phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9062e97b-7419-4849-ba73-c7e2fa1a2d87 phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09411282-13ba-4f04-a948-777aa94ad48b phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6fe38294-a142-4143-90ad-a5f321bc133d phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4f0d990-59a9-4ce1-a665-d0f22235015b phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb8e943f-db51-4eef-b551-2765c74f66a5 phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff3d5c6d-f968-4a1a-9722-0be8e59722c0 phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76a39bc7-2bc6-4c9b-9099-a3d94289ad3d phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a77cbb4b-c10f-4527-b8c1-4563618bffaf phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:15d57568-4451-4718-8ad5-d4688f5d5198 phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a63ac953-33d1-430a-b140-853ba65e43ec phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc6eb012-0d41-426b-a7dd-37442ddd5ea3 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9067a41d-6e27-4c02-bd85-96c9fba71864 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf346b47-99ef-40aa-8441-cb5fcb046459 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60caa721-af9e-437f-9fc6-bf551d6616d3 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:314be239-159f-45e0-a9d1-5abe008518a7 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a1b4480-fcd4-4bb6-b442-80556ee9fc45 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2c6abba-25a9-4d56-8f21-f0b7e001fb1e phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57ddb672-fee0-4983-899f-d616407f61da phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d6858c0b-9178-4aa3-9f5a-85bf56481ffc phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b24bab0e-07e6-4c0b-8aae-7968a597a2f1 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2434618c-ec60-4eee-90bd-1044d3e3f41a phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5e69e464-ac79-4676-8429-0d42df2bc4f4 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aeaca860-d2dc-4c20-bcd4-73d82d0cf502 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f2e85959-8749-44a5-891d-48d129200de3 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:13cfbdf5-eeae-4962-8e13-3aad86367169 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:461a7642-d3e3-485f-9b67-397c32c8a0a8 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e87aee1c-5628-4aa2-b970-b49ac4aafbfb phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c4018193-5499-4e1f-a13c-0b8ff6012a20 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:54890fcb-9e26-463c-9867-9132d4c7f63c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4d8f3880-0d14-4a34-988e-91065083d4d9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e57cba65-dd65-4183-8615-37e56585a4ab phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:381431f3-d691-4039-a162-f52069991469 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5b368eb-75ed-4ee8-9bb9-a3d6ab14376f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1857836a-8750-4cdf-b7d2-be7ff147ffb2 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:517f5402-87e2-4506-b998-3ebc0251d889 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:032efb6e-8e4b-400a-a938-9e45854f1129 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c852df8c-0992-4890-a410-8dbed9e1bb01 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:aec03b7e-78a3-4b06-b06c-dc86122c4282 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0b2551ed-43a6-40db-b9e2-9e03328a381c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:003966d1-5dfe-4cac-ad6a-efe6f9d118d6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f20882e6-b66c-4130-853a-ea98325baa5d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b030c854-7000-43c3-b61b-253c1a763d8c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d765b697-8b4c-4146-91bb-480112fa78e3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e4aac26e-dbdf-4bc0-9f87-a8c457dd45af phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c6e6ad6-b3b9-4d7d-9ee1-e2d187d5d02b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17af5ba8-7ff2-4a40-93f8-0a0618819c4e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0a6e1cd-e52f-4597-9bdf-5dc4ab432daa phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bcb0cf06-1f1d-4a8e-8710-3b0bde36b368 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d87e97dc-eb0e-4908-9d9f-6d76440e49aa phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:273cd0c0-06b6-4036-a29f-46997d0c7e4b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ab42c24c-5f01-4ba1-ab23-4e9a6588f63e phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fc81203a-5795-4fd8-ad42-c35a85139f4f phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c8b713cb-0676-4d97-aecb-fceaa70ef931 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91621dc8-6523-47da-8fb0-654432e9ff1e phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f042b16-9694-4cf4-9be2-fb8ce867469c phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:314bd22d-5003-4427-9cb7-b2329997dd9d phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:787ad0d5-fbfd-4926-85f0-6df6300ddcf7 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3b4f8778-744f-4a72-907d-34df449c1d32 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d9550a45-a02f-4de6-b297-1c393830662e phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:39d6b09d-6f0c-49e2-b76d-a09211e8fa01 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:352f88a1-733c-4351-b1c7-921119d26c03 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b256bb07-3a1e-4351-9fc3-2dc698b42dc6 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5c909bdf-aeac-4df4-868b-cb681a6012fa phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5a7ba218-737c-40e3-916c-c62367a78566 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ee4b255-ca8b-4051-b3c8-3f5e2b8e280e phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a38ad0ea-a8e3-4557-ad64-46799576f79a phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1a658b16-21c9-4e3d-8bff-4a6ef0961fcc phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18bace79-b8b0-4f96-9814-584cdd222995 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b878162f-b407-4681-abf0-491ce3bb17b4 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9f4aca0-0f15-4015-8e5c-cede412bf2ef phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f444dda5-ce4f-48f2-8291-05c1885d5d28 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9ec8ad41-a1ed-42ab-b25d-da91f8816e64 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4666ce4-66e4-4797-9ddc-cb47a2fdd36a phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:73bd6845-5eec-4309-bd51-00fd1dc52dc8 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:690785d2-08e9-4a10-81c3-11c54f2737b5 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:02d36fb6-65be-46ab-8d7c-006ffd1af308 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:774c9dc1-b0ab-40db-a256-5e8a91c09305 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d315d7ec-59af-43e7-bd59-7f87cfe6c7c3 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5a2a8b84-1fa8-498d-a036-520d721ea7f4 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a63709f2-c633-462f-ab08-a79ee7123317 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8ff22a5e-c7b1-48a5-a544-810ff6c04b13 phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ee6b2b26-5fe3-4ac2-8f60-58bca6d9b5ac phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:81cd1cda-1b09-46a1-9c37-fc98fd54465f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2622b125-0de7-4fda-89c0-c4bbfff4953d phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0b1c4ba-33f7-447e-9b92-a9536f993c0f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba789b02-4505-4fa0-9c7b-578a90f2addc phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12571286-8a97-4f46-9c8a-871a9439cdf0 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:35a4b743-92bf-40ae-951b-5cc7079a5b4e phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f754fa28-e475-48b7-905a-f93ece4a3b0d phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1c6aeab-ec4c-48b4-96e5-eb343c465640 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b50f6195-41f9-4292-aa27-23dfd1074caa phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57b4cf75-9e3c-479f-a4d3-144cd954e4cb phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6aebeac-edf2-40ed-b237-ca10abfb9ecd phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59a091e4-9c35-40c9-9545-da5dbe58877b phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9dd1ebc0-4314-45a7-95fd-11f1e0032ca8 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:26db2769-9111-4bad-a932-4f2de0fb1b41 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9c32a74c-4fbf-4e7a-a6a7-e43c9ba22027 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90cbfcc5-b761-45a3-aac1-fe46cfb5a112 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:558272bf-8c08-46c0-b9f6-839565e85f07 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dac4a066-8981-41d6-8996-f70f4ecee588 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26c4f37b-de13-46f9-9595-9cdc2927c7e3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ac00138-f1fb-4bef-9710-539a5d285f05 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a39b50be-5349-4516-9210-e93f5c9f847d phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac2c6c4d-dd3b-4cfa-8578-b2a07b9d42c6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6733d6be-f753-4708-9fc8-6a16cd5d315f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b5949115-52c4-490c-853e-66ad80547228 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6777ef04-d986-4bc6-95cf-535a12914977 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8693b94b-40f7-4784-90f1-9b393e476bd8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0eff0ed-9abc-430c-98ad-3f870cc9757b phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40d40273-2ce4-4e8b-81eb-c65e1d4d2436 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4971dc94-8fae-4eb2-b6b3-ab975b91677e phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:815be65c-f32e-4a96-a1ee-b999750ec293 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3874612-13bc-44b7-ae51-443413de0ed8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2cd8aac7-5ae6-4cd8-8907-bb33c2e5e2d6 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b51a1016-b974-439b-9eff-543c6c889f53 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e2e2bea-0254-4d61-8c08-d7be96c5a3a5 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ddcf7742-e724-4899-831a-0ef0b77274a7 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf0e8f21-0316-4add-b4b7-70872958de5c phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:62e203a4-3867-4801-89f8-d6701f1fe3d8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:750d17f7-d605-4a01-b81d-3f0fa9249ba3 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b2b7098-48e8-4a74-b0eb-edfdad6ac879 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f07e4012-c321-4a0b-baf7-a2cc5a755530 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:247c6453-748a-4171-b9fc-5d18183c1278 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c7ac4090-5532-41ee-aa4d-d93796ec9eb6 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4314ecff-5c91-4386-995c-dbd468a7c081 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d65d4b8b-8b20-494d-a868-583811c06040 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5e683f5-f29f-4b1a-bdc0-b1f5075693a8 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ff82fce-fe6b-4df4-b129-eef768013b08 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b9fcdc5-7284-4cab-80a7-44895cc463a5 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17514e25-93fc-4b72-a6a8-25ce87684aff phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec832200-5447-41f1-a320-e309fda39733 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3eb7bbe9-c2b5-4382-b18b-2e1671cdb7bf phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4762023-659a-4151-9170-335705fad034 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4230f22-71be-4e5d-a25e-4b94698b42bd phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4e6e6d9c-751c-4dea-8692-255c242d47f4 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:475b34b9-dabb-4d8a-a8cf-98b7ad704f85 phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9d081c78-d996-4883-9b3e-5ace51dfb29b phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:98ea6af7-a8d1-4258-ad97-3c2a168f3a76 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf8cf1ce-2e80-4915-bbe6-f114c88d8417 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:506f4082-c5f2-417b-8e8e-d2db10a8ad75 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4db13d9-a89f-4046-bbd5-b90cd5d916f9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f25a5165-c736-4167-8090-633540d8f894 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:27d23636-4e9f-458a-8505-a02904d6d62f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7fe28cb6-4528-452d-bbd7-9222d83a3cd4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f2ab346-61a2-4e89-aae2-cfe10dcf0039 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:657e736d-63c2-466e-9672-cc448675d57f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96e745a2-2aea-4070-aa05-7c8c810e0b0a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:60e4102f-7f32-48de-aa02-ad100a8140f2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8bb0bff7-20a5-4e02-9747-adbbc854089a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25198e11-2477-4737-b434-e83b97041f4a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c66e4cc5-3469-49bb-a14e-4d7620d62f1c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e021a90-7fc3-452b-a6bf-96791ba1f6ce phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db8cc8cb-ba82-432b-8ae8-6b0f3f3548d6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4eece49c-a237-4ab5-ae4e-27450a23fdd3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89af8bdb-17bf-4da5-9198-4c75d8f019f3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a5cc6b4f-56c5-4270-a7f4-4fa189cfd39e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d767a3e9-6b5f-400c-a461-f085946fe1ce phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee80453f-27eb-4199-b91c-c7cb8cc9c4fd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2bc91f0-4e7c-4f39-a59b-af2392b471a6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3385713b-7029-41d4-a149-e0c997564daf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7df6ac4a-e27e-4d0e-80e4-9ee18b556b7c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84bda631-a0d1-4e6c-9742-368421eed819 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8afec227-cd29-4e02-9ec4-ee84613c847e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f493ad2b-90ba-41f3-9379-179c8338efea phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1144335-be2c-4e12-b8fe-1e1fb50a1a9d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80db6b95-b88b-4cb9-b05f-7c83529eb0a3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:74643c7f-a424-452a-939f-08b044212b91 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eef84813-01ed-475c-873a-440307ec8a97 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:08e08fa8-db1d-432a-915e-1e3a167833ff phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:924a1cbb-ce8d-4145-995c-07349f56f34a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c01cb5e8-e3c4-4129-ac1f-721332e396dd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72c16f91-5063-47ca-a864-524e7950d290 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d61057e-c297-4414-ae7a-fc174a7bc522 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e9926dfd-0f19-4808-87e4-3cf31e7a7d82 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7f552ffe-5ec0-4461-92ce-d2b013ff7501 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2211c17-b60e-4c4d-ab2c-25ce76010c32 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57363c77-c9fc-475c-909e-bab55a68ee04 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:07652047-7a7f-47b3-8052-fd45ffaabf9e phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0a9fee5-4f14-46b9-b9ae-ee589a014bae phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2b12b41-240d-4a13-b8ba-c392b2ca4235 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e7eacfa-34eb-465b-acae-5753e515522d phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e28b4e7-aacd-4abd-83db-6573d0633486 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:88cef2d3-cc38-4551-ae17-2aeee5d1735c phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4dd45262-ad67-4b16-8713-f975a79a2b48 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab3ea21e-83d1-4fb2-95e7-81464c8e0277 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6df6bbb9-ec31-4582-b935-ec8db1d40942 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad27c5db-0e3f-48eb-a7fe-943eed7c2262 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ed900c5-33c2-404f-b7ca-295f04970b68 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6efa74e1-923b-4665-8b78-918a28547643 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23448749-b6e9-4558-aa7a-ac43c1768e33 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ca3a5ea-7e31-4370-8b48-edd00af93c68 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c10bcac8-943c-4339-9017-dcddda1ec447 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:521a8770-ab64-4c9f-9a97-68b7d8a7ca86 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:232f97d0-50e0-4cd5-8b51-c2487ba7144b phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96e0471b-06e1-481e-a9ed-59b5ccb175d1 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:14400fb2-632b-4694-984b-8aa480055cd7 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4953da82-464e-4ce1-b9e1-967ea595b837 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cc138387-2732-4987-bbdc-8f5098da718e phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b9a7546-352a-4c4f-bc73-63782c057033 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2daf4d35-74ad-439e-9584-1d98dad3cbb4 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c37854f0-4a72-4300-9887-50239f62806b phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:596114a9-3029-42ea-ab40-b054037f82d6 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ccfa5f02-458c-4838-8ad9-e2bb006b9497 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f5ca23c3-103f-48b8-90be-2cb9066cc59f phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4387269a-624c-4d5a-9ad2-9bdb9cd453a6 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:19e6fbbb-9ae5-465d-9780-36d99166d9e8 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:63051734-28a9-4c29-831a-1b23b870d746 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f3355ca1-c935-4685-a5ed-1fd57b14ec3d phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:730690c6-6b7c-4c89-9028-d06eb87ca95f phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f13d1d64-5790-4d1c-b827-d0dba59698eb phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b98ebdf-e83d-4432-8a6a-ec37c56f01ba phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fce434d1-d500-4333-ad20-87230df13152 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a19129e4-8846-4225-a4c6-2180753d9323 phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:85f9d764-c205-4bde-9570-5e7940cccacf phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90b43d2d-8b1e-477d-b260-84b18c840f5f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d35e6142-6381-4a9c-978a-8248b1c5050f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:79d900e8-f867-43f7-b158-c19a8c3fa59c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9dcb04e1-fda4-4df2-bd00-24aaa128a07a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eae4942d-f493-46fe-bdde-43cef57299c2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6eb79698-8083-4a63-996b-a85b4947ad8c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8d0bb137-0d61-415e-a593-1f74fdd8556e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab3408af-a235-420d-8fa2-d6607f18d997 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d50d32a-ee00-489f-ad77-af6fc742ac4e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a44c8c58-06ae-4f55-8387-a38750404294 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:da216886-d30f-4c95-b1c4-42db7e235ee9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a895c8ec-e230-4d15-92dc-543fd7a557dc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:12c089c9-1b0f-446a-a53c-df58069526f7 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:124011e2-de66-4ed9-87d7-6e143bda644b phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a472b89c-45d8-4922-b56e-faacb78363c5 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:025ed547-b059-4730-b46b-72e24aa72faf phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9039601d-4242-494f-9ca1-8c87630c4222 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4348afe9-6af9-4101-887c-0569c80be4ef phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8392af1e-0f06-4462-87be-b8213d6eed8f phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1576494-9300-429e-bfa6-294cb4e1f5c6 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89d6188e-09ac-44c8-bf19-aadd238333af phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c1a46388-e94b-437d-a2d8-e8e2461d4041 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b5977a1-09ae-4ff0-967e-cdaa9aa7a459 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f81bffe8-cba7-49cc-b674-c44c561e3e9a phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62971e32-ce96-4261-a042-ebf66d716008 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d7c3241-8d9b-4d07-b9c0-e721a082e120 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d6139c02-55ec-4c00-8c2d-03b5fc74108f phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c6de3a9c-76c4-4378-b877-3395a4943c63 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35ef4578-61ec-4edf-b5ea-68321f90ade1 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d5f07b0-d1fa-492a-a4bd-8f88b6fe3210 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d14448a-88b1-4b4f-a383-f1029fcb4acb phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0c36c63-d735-4f94-a2d2-b7cea5707545 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3648f3c-da13-4c58-9725-a9a2cad2c9fa phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:715f9b20-099d-4123-ba94-850f3f82f2db phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1d82f9c6-dd3f-4d0e-ac43-e28d97b00481 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:073d5f2e-76c3-44b2-81b0-385fd014e717 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed467da8-2793-4d32-a81d-2f5438d83415 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e9855a53-e2f6-439f-a299-ef4b73cc6fbc phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8d710293-cfa6-4c2c-9665-2e60c7abcac9 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c6234f7d-3cff-455a-933a-afb29c307c53 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3ddbb1ed-4729-43fe-b694-c4f334284121 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe59461f-6aac-4c5c-8626-4700a644df72 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad3adac0-5950-4f08-b671-fbf3d76a114b phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1f50a8c6-fbff-4733-a827-548f75dcecc1 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cae7eb7-be0f-4e7d-a202-3c164c18c225 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49a1bf79-b18c-49f9-aca8-5ffdd19bc50f phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c7c6e239-e3c1-47df-92c9-182440a843d3 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6da5185c-71bd-4793-993b-2eaf9de74125 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32cbeed1-daee-4bc0-a50b-4ea0c370a500 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87a87fbe-7946-4bf7-af7b-1c0cdece5c9f phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aff5de12-e622-4122-9a5c-5b24c99a8c8a phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b73a4ab-b00e-4b8d-8d7e-81592bc1c6d8 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb77ba06-662f-4782-a1f0-a10c54ef5241 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:574ef033-23ad-469e-a79a-85df522f26d2 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fc7ca1e-0511-4080-886e-d87f5144ed38 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4062a2cf-545f-421d-adea-6af8dea1591b phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8b748ca-b466-46a6-8552-e25c8a640857 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c6b8114-15a5-44f3-adc2-d69a26b36de2 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:24b35d4b-d8ec-4867-9ca2-33c0f3deb02e phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:439edc69-1752-491d-a588-feb0a5097493 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9042ab16-0873-4bef-9b78-2aa9e475d221 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e39545b6-b4b8-41ea-887d-511761f96e0f phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d36d4477-d91d-43db-a8ba-a56ed9845769 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:41234460-e648-4007-be0a-e4c420e272ed phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a112add3-e82f-4621-b1ee-ad5ec23af4fa phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d106281a-ef79-4333-904a-e33ab4894dc9 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e838a8c7-d532-473f-800f-827eeddc3bb4 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:808d18e6-abec-4629-8b76-52aa2c2fb44d phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:56edd415-eb02-4740-842a-66b6345d9c2e phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ebb87ce-a34b-4516-aafe-59158570dba1 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c43164d2-afab-43cb-8562-92d52b33ba52 phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37bba45a-c0a5-4a88-8119-eff25b003a6b phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:38a0c312-c7ca-4d8f-bee8-b7ca154cecfb phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:758c2290-f622-46ec-abf5-9ef706da41ee phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:76d23d64-bdf1-411d-a9a0-0f697efff378 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5998e347-c8a8-4c5a-8b61-cd4e913ce1d6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7933471-c92f-4daf-9b4c-53993d26d963 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf42e30a-f776-454a-ae72-07965d598a83 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:da94a2e8-ff6e-44df-b47e-7fcff237ed87 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ffccca2-cc45-4795-aad0-6109f4143dd3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:839cd46e-aa04-404e-b63f-0242be84b131 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:df98cdbc-ebe3-459f-848d-b9e893c28c2a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bab82e1e-6811-43a9-bd75-f78a4d35903c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7631e40d-db71-48c3-ad5d-51a5b80afcfd phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:febb8eef-33a3-4d03-8ebe-510ddd22c322 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ba92fda-8f5b-4dbd-9139-27886757b64e phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:de50d911-960d-498a-bc18-58d2450a58d2 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:162df26e-1b4b-46e0-8d31-466c3d6937b7 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09093585-d3c1-41c3-8965-8704061d80b9 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8eed3b68-c97e-45d3-93e1-5cb4439dfb9b phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:533841c5-2c38-4ce2-bddb-f32df36542dd phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db40b52d-efac-47d2-9fee-93eb4cab86eb phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2627dd51-c5db-4a32-99e9-42bc9e73dd66 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:75a964d7-81a5-4631-b930-576e13063486 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:23fc035a-bc6b-458b-b831-659ec3afa6c0 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48068461-dfdf-4f56-937b-a1b534b90c79 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:780c1f0c-fb21-438d-85d2-6f29e3bcc34e phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a30f8e13-ad03-454e-8852-890776ebfddc phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6dbbeba9-5c51-4e59-bfaa-8962b43b8ba9 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8531e997-f066-4cc3-a7d7-cf5e71a7d2aa phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1340a20b-cb43-42a6-ba06-53b6c71c8ac8 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c3751ad9-d3d6-4353-b938-93cc163f840a phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7b1c86dc-2d90-4874-89a1-f9ddf4866e48 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94327874-37c0-4b51-87a7-44e13084ad81 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d5c2c8aa-a3c3-42d7-8937-6e8f861eff04 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b531e605-475d-45e8-a174-4f03618c605e phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:602a9c69-8bdd-4635-9b51-c1a405fa5fdd phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc3af104-d52a-4f22-9bb5-ee1ec39f944a phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c03b3f63-afa1-4684-8958-4299687318e6 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:38136568-a8d6-4a32-8df7-b0e5b04db2aa phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7429499d-8336-45dc-89a3-4c9d11be7a2a phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87671917-ddee-450c-8331-86ea9411126d phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f2c4ca39-3747-4e3b-899b-17b6f9ede687 phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cdfa9fa5-5421-4dd5-9126-5408e7dbbcb2 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e7e4a47-dfc4-4a6d-a5f6-c8593c8a7070 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28fb2bda-bc51-4286-b498-916ce8aa3f92 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbb1128f-71a6-4e11-80e3-a9af9d3d6945 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0b64bdb-64d1-4663-a761-abf087ca085a phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8e56b811-121f-4e79-acb4-d980d06c631c phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7af1af27-a302-4301-b022-5ba152752796 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:852553de-49d5-4edd-b6d7-3f67f058c15d phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:05d6a624-2e4b-42aa-9abb-f3305b049024 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9118d68e-c0d2-4201-82af-6e29aad23924 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:05ede90f-71be-4072-a267-4ba67e4ba077 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ea896af-471f-4715-a34b-eff21ad32a75 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bbf21702-aaa3-4829-93b4-b0ccd4e915fd phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:026f858c-7e94-4dac-ae64-34517add23cd phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9303b569-dde3-4043-afd9-8ed6f763ae58 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9820e555-9d00-409a-9500-d5ce349d1aa4 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:28e4aa5b-72f9-445a-946b-8f43a2d5c8cf phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6145d71b-f502-42b0-9006-91ecae7f739b phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:293f01f6-2cbe-4e32-a849-3f93a5d21c35 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:828050c2-c8c6-4c6b-af2e-e97230914944 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6bb079de-5814-4aa0-8686-a6fcb08da2e8 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ccec91c4-872f-4db4-b00e-b3da15ec885f phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd29777a-f75a-421b-b675-12782051f286 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e03c87f2-71c5-4dc4-9b3b-8d857cffda26 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:721e98b1-0483-4415-9fc0-710bf613291b phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d1a1933-3611-4b56-be0e-65a7606f2a40 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bba76be2-53bf-4c5c-ac9f-11fa1ccab6cd phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f6a3e9c2-97b2-4f15-a5ba-bfbe9de020f9 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57f89243-cc9d-4378-a629-22ef996b3dc0 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c2efd11-fea8-4de4-8568-b7b28b43cce5 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f25eec9a-3b5e-4a23-b1ff-6d9f7b6b24cb phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d4931b6-d73f-4738-9941-7c707244585b phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8dcf47c2-99e2-4dbd-a904-31a24ced585f phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03101d68-57ca-4fbd-b6ea-a97b0448083e phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a5c2ca63-4839-41a0-83a1-54a7411f8465 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e04cdb3-0c4d-4e38-be49-ecfa34a14d22 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fcbc3d4c-fc48-4156-aaea-922cb485b25b phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6dcee483-d661-4c93-bd9f-cd4f8e2c5518 phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6464a684-df3d-4ec7-b1b3-42ac128a6d5f phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64b37e3d-a4e5-4bae-a771-edc595939839 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1cc67162-7ada-42d3-9407-05a3ce86e47f phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8da46678-4e9e-4372-9645-998fde79f477 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:483815a2-6d88-4b2c-8235-bfc3a81aa44c phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e4fc707-2977-4956-b4d7-6b0bbd5d0d5a phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:489fdef5-082f-45c9-9fa4-6d3725e52cda phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1af1db62-7bc4-45b3-9868-b518514d4a3e phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d7e30dc1-81bb-4872-b349-4365ddab53ec phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8440c6e-e458-44d6-89bf-efe855e1c603 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd21f6ef-44df-440b-8c6c-a8ad53c5dc2b phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fea4b370-01f7-4e66-9b4e-83bc393eedd6 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:61688d42-0760-4867-8601-6f9b79edf14e phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a340b633-564d-430e-8f68-63935803756e phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f7e7da7-f2a2-48d7-b095-290dd2ca51c7 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e0bd476b-687d-4209-9a9b-a00dc548c3b2 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a1c374e9-b852-4ed6-a1fc-8dcf5ba14726 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:24a13288-fe05-48dd-a8c9-9d4cbd5e0035 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cb17b662-91cf-4e77-aedc-d7d5b05a1e6e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fccd7b5-7ab4-4204-9e1e-87ba344f5148 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a530d65-0b06-4ce8-b38a-374c439c7b36 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:099904c5-0586-400f-bb98-738d4faa1a43 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e061c90-d65c-4866-809f-3ad5a97bc6c0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2623ff09-1aa0-46fd-896a-1992df6a69dd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e80c0996-7fb3-46e5-865e-7296c124f361 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d39050df-7c8f-439d-add6-e918c78e2432 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:616f9331-3fef-4f9b-922a-a973657c9864 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf94a17d-b1c2-4eba-b241-dacba164b2e0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3c1c0aa-94d1-4206-8667-97085ca56169 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:161cd873-c667-4eb9-ade1-edebf2bd95d3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c809978a-f857-4940-b043-e78ae5cc7aea phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:24e65122-7ef6-4c1b-8b5c-830a0a7d5387 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1e9380dd-57f1-4b1a-9ec0-9298cd6a92a7 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9df5beef-506a-497a-b458-65d9bbf0eb56 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17b86cb1-c3ae-4e31-81d7-4981b99bb254 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:13cba859-677e-47a1-b2fb-c9d70e4c64db phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3b093dc4-60ad-4402-9fe8-cad22bf10850 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cab2a3d6-1bfb-4609-a397-70d3fade4839 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bcdabc0c-d6ac-4f79-b10b-874bb855de1f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:215576d3-f388-47aa-be56-ffb43acfb94b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9b41a27a-4e5b-4d06-af0f-a03c4251915b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86e44a21-6bf9-4028-acc5-f85aca1ab9eb phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48c6b7f1-6884-45d7-8c97-318d9243d3de phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ae15f05-37d2-44de-a7e9-7ea7ad4ef1fd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37dc8e69-7484-4184-87c1-6a12ce846242 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9324813-8e6c-45bc-9da9-d3f0609c9598 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7005a591-0427-4c83-8d12-407b074bc638 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:33848ed1-4026-4ca9-b274-c9ed456d151d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bcd4d425-ee12-4214-917a-c51e29bf9a10 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a1be6804-cca5-42bb-862f-132e4ea7f0e7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1ca7657f-d3b7-4f8e-8975-db06be88c4d0 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b5245fdc-9f9a-4c52-99aa-dc1f6f5769f0 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5044c40c-2beb-4b77-850a-7c02dcfa8354 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91fff3ba-bc41-442b-91d8-e73467758e1e phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4130334c-fda4-48bc-b0c3-3dcb6178998e phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a143953-e47f-4e9f-aa19-db34fdd0ca58 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:097e6f55-3085-40dc-8595-9e9f8be89d45 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bb92e094-15ec-4d05-91d6-3ff617343c45 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ddb52eea-aad8-42a5-b75a-1f4bc2d3bc4b phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34ec398d-f2d0-459a-828e-f2c8dea56bb9 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3065c8b1-c8b5-49f6-9bc2-9214064f7927 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d25b80d5-35ff-4a3f-b1e9-c2534ea42565 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:15b2690b-94eb-45ca-9981-2f13723dda9b phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:711dcc4d-1e0c-45ef-9ddb-fecf8c6b2a89 phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ff3c749a-fef7-4a0a-93c2-9605de0fe317 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fa80af8d-57c1-4bab-beaa-0620a2bf8030 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3b3ba4b2-87e3-444a-9223-e9d53214be92 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:80e780f7-bafd-4ab1-93e6-7f4ec0aa2d28 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2fc1211-2911-45d0-a8f2-2d0eca4ffe10 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fc1e1416-489d-4012-be93-e2623a5bb908 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:157ff6ae-d715-4dc0-8e90-9c7127c2c729 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ef4e325c-706f-41eb-9c0e-e357276c2462 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7776097d-700d-46ab-8d80-2132ccd5ed41 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f96a7e65-310f-4ba2-a3cb-6850bf76cfdf phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fecfcd04-fd6b-4e8c-8c68-8225090cd254 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03735328-f385-483f-8f9e-2cfefa18fab7 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:15189dce-7d25-49d6-9275-2c836318ec26 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7752d012-80cb-4d6d-80ac-4ff72bfa7498 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59e8635e-f0cc-4e25-a6d5-8bf4d9ca8a1a phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fffb0788-fff2-445d-bfde-539cfc8f2178 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a0064737-701c-4092-aa3c-31c16714db8e phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18c3c244-0dc9-425e-ada7-c75280b0ff10 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4fdd5bc4-064f-4b8b-985f-c3decb8047ad phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b6d8bd44-ac65-4053-a9ed-64884bb43168 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:24d3451a-f400-49f5-8cae-f8c02c6c4a03 phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0648800c-ae7b-45a1-9456-d82c5c92e8ba phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5679c25b-1cf9-4a22-a9c3-c1d0d5c4667b phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f998ea74-a725-4088-aefd-ca1a9e08174a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d328ad85-5c37-410f-8b60-a4865db6a004 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5b39499c-f04b-4f74-a43a-54fa999f216c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7c694d7a-c672-4e2b-a5e2-c9d0252cf5d6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:59140cb5-0b25-4337-b43c-80a0355da354 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:426aee9b-8118-4c50-9bd5-1ac7e7d6d6a7 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fd16fdc-4482-4ee6-88be-b3e74262a1fe phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5fe6f49-3a8c-4940-9999-9bd26bd2f9e5 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba67ecfc-6bf1-40b8-a712-7fe43c863f87 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91f2345c-189b-4171-b99b-615af83bbd4f phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f3e508cd-9b3e-4dcb-a187-c466f8c32b7c phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49d8d45f-7822-4978-9ed6-78d4e4172587 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9bae16e3-12d0-47b8-8cf1-4728ab77ee6f phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f833f310-5662-4a36-8237-72100fce0032 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4aa9770-99cd-4fab-87ec-ce10e8233611 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c514f25b-62ae-40b8-a1aa-71eb079c95f8 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e4f20d3e-f838-4e64-8508-d16bcdeec328 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:af10a404-7feb-420e-9d65-dc6ff177dd1f phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9826871d-42bc-4c3f-9b37-bb181a8bf109 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a7fa5c0d-d49b-491a-8c07-cea9ebe8c670 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b0a7161-0f2c-46fa-b568-aab6760446dd phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf7127a5-10e9-4812-a782-77f67955a4ac phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:af5a1e8f-8c1b-4a6f-800a-2b2ef1349d29 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e43404d2-be54-41ae-828a-3b9e4598c92b phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9a35f9b6-827d-4684-ba0c-1d1bd73cd509 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff19e07a-2526-41d7-aa04-55ae2c605c2d phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cc61182c-4162-443e-8b28-81263b6cc404 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a5599759-39ff-4a51-9364-4bb0d1be44f1 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6cfff7a-001f-4ce7-aec7-52439cb25b99 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f05878c9-7b08-4083-959b-868d9f6f5d4e phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b8169999-923a-47e5-8a62-c9ec44012670 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4450876e-2b81-46f5-8af2-4fd7a9714280 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2453d881-94d9-4b3d-bd8d-f32a81223c89 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8ba6acaa-5ef8-449b-a5cf-686c42a320c5 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c85fc2dd-2584-4ad7-bfaf-7aeff6dcaee3 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:938d1da8-b513-406a-8d72-a2446c7a557a phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e020d4a8-d0a1-49e0-abf6-bc47e2838857 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bd199bba-accf-4412-b9e9-19ba9a5df88d phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:915cebad-8626-4d8a-bed3-ca68fb7688b5 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:454ba84e-a532-4024-a206-8d4ee0995878 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e32e7e93-5e5d-48a8-8299-dbf0d647cd20 phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d9f88417-37a6-4a12-95f7-87a2023aa05e phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dde4e35d-80b4-40b5-aca0-4708acc388b7 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b5c0ddfb-5ebf-4740-965c-18c3dd3e7709 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:41093e4c-0f08-44df-8ad6-fb4aae2e7303 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b6350481-730d-4795-81ec-82d5090dbb18 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:556cf5c2-c479-4529-bf0a-735b28ca8a38 phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:37c20be5-979f-4c3b-b94b-8a11b51c1f7b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5190dd49-8a75-4a94-95b5-d346a1330c90 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fcd8863-7989-4412-b404-05d0c1af832a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59b0533d-8891-4693-bb46-7a039349b0e9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2738b774-2299-40bd-b33e-664b023fa7c2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96a69fc4-3074-410c-aae1-e0d5d2f04e1a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16c6eebe-4b25-4c54-9e73-e8d46b5a063e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2aaae7e1-b1dd-4ff7-a382-82e3fc5fdeac phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5db0afbe-50bf-451e-9c45-a8eeec1afd1c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:52dff651-266a-4898-9ad6-e6e7dcb64e16 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:adf17c87-2100-4fb0-9c9f-b2f14e7127c4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:816fbd84-51e5-41a6-b563-f96449f12ef0 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:41db50b5-7289-4916-8405-ac9269c2836e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1de085ff-2517-4505-93ce-81733f03b7dc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f8fa25ed-5ff7-47d0-b562-93c85587d7dc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f8d45312-a9ab-4cd6-bc04-6a8f1ecdca98 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a87956f5-593f-42a8-a1e8-ac0a94f32cf1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f7607bb0-b05b-45da-a7e8-af80620b806a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:12b8b089-c57a-409f-845e-a9d3ffbf1ec5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cbc035fc-eaee-4b86-8cb5-70921c861b15 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ab2ddf5-e0f6-403c-a983-bf3c46f64bf7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:81ccaebe-2eb7-4919-b73b-5463c242cc90 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7edb4477-9591-4c33-a98b-03b8998e8675 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8f1f7bb2-600a-48b7-8c90-88eb170111b8 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:16a45e0b-84da-4165-ba85-5249fd9a2b29 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a307e7d-60e8-4fab-a0d2-9fc37ad5f664 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aa827e89-02b7-4885-b69c-26ca6f51282b phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:edd6a602-68bd-41fe-b52b-986ea6412366 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1968f85c-f82b-4c69-b427-37b352bb5fa8 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4a06949-93c9-474d-ba6f-29be8c494187 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e3317673-8d49-4192-bfb1-a12e8d9e6f48 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:777bccf9-77a2-4b40-aae3-67b0db3e8728 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7ce18e09-49ff-4d21-8b61-c2bd6f7f8a4f phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5aa90cdb-84b5-4f6e-8758-f77a7e036e68 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:45e0c7ec-e4f9-42ef-af43-43e6041fdc8d phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5194d08e-df17-45c4-909b-6342ee3964ee phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59d0b8c8-1b88-45bf-92a3-529a9d46ff3d phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b7d4674-caee-40f8-98c9-d4d68c7b8264 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4af3a54d-1a42-4cd1-a89f-0e8ae7d02a2f phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35758511-b902-4164-8051-03880f64b9f7 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c925953-0c76-40d5-800c-3389045020dd phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57c31bb0-88cb-4e7b-9def-e57cee539117 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1a596c1-cb91-44ef-95b0-4fd234b184a0 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9bc465be-ab06-40a5-831c-f9f27ee98bc6 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:835eb0d1-117f-4ce4-bf5b-a67793dcdd48 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8085a2a3-eb59-4399-81a0-50f5b1091423 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:af89befa-7627-4a3d-9b65-1a09d6cb548f phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb74ea18-522c-41d8-ac8f-5dc430145d40 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e37e566-46f8-4c70-aab7-1beafeaebb7e phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:274fd91a-c423-4f0e-a779-dd51d31109fc phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5f217e57-77a6-40dc-9931-3186a01265b7 phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:64fa804b-1e3e-49c9-a2da-b30e8a3ab12c phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:717ef95c-0f45-41c9-b9ba-b76855d0bbba phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:47e88eef-df30-4091-8770-217aa0181615 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a868c1a2-940c-4a61-aee2-11c7e68b5b7a phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7ddabe9-de1f-44c0-a31b-35b03f1e5d35 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ac0da4d-63d8-489c-ad90-efe98f899ed3 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf766096-c742-470c-8486-f506a78badff phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0626e4c3-a955-4a17-85bd-c336e5f1d930 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e06deaf8-b0f7-44be-992d-4270d44a183a phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:83617bd4-1fdb-4fd7-a683-2e49bd4385be phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02512e6c-b319-4062-bdeb-6e8ae50d097c phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a240803-940c-4737-81be-2980be9252bc phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e9957ef-6b91-4776-82d5-b6e2ba42d97d phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2e3e701a-b3b3-478a-baf2-53cd1a8795a1 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:416df2ce-6108-4030-973f-df649af2e28b phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a86e5b60-937c-41fa-a3ba-7fd543f3018f phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab6f53b3-8d1e-4393-9f34-a9a6e632a1b1 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91ddd9c8-c83a-4ae1-8f1a-b98ed317c540 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:41e491af-de79-4565-aa8b-dbc2bcf02f89 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:be3454e9-32fd-4377-a43e-2c85d77f4c85 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cfffddca-c1d7-44e8-b7db-955bf3795ac4 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:620486be-a4a1-4a2b-a6d8-07840849c578 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b8c853f-0258-4207-b27a-258bd04b6322 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9acebcd2-916c-47a5-9b99-4c605cba3fb1 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a74cba32-03a8-437f-b100-1f786c8214c3 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:55ba5401-2ace-440e-9757-963db38c88ef phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57e57960-4909-4d7b-a452-982b5c8ba4fa phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd489560-284c-4034-a0d8-8f5da356a0d3 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f96e5a87-45e5-48cc-8295-806ce022ed60 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bf6262f1-b8e9-4473-a3d9-a9edeb3f6ec2 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12fcb126-a39c-4fae-8edc-e00ffc8c26ce phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f609771-c8c4-4602-9b15-fdde8573d286 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ac030df-1d45-47d2-95b5-7791ef71fe7d phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:44eb05e5-6efa-489a-b1db-656789bea04b phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9d1d8d84-47df-44be-8f13-1c1ffa14c53d phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:509c5c74-158e-4e0e-8493-b7eada4a61de phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d037aa8-f631-4ef8-9e24-648a02e61721 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1429c6a-824c-4de1-b917-faecae3c883c phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f3acf687-eab6-44eb-ad77-eef9d5a48c72 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5438158e-1720-4f17-971a-7b69f3a31c6d phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6caf01a-45e4-4ae0-abbc-ea4feb95c034 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f576735d-1eae-4d25-b4c5-de100eff7f9e phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7e2b2858-da02-49d1-98d5-c8f160d98e42 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3368535d-2afa-4b64-969f-064ede297adb phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b8a3810-64d3-49ec-9e73-c75e2305643a phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:25e45622-a4e9-481b-a787-d29648e4bf70 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:686a9c28-e3fc-4d1d-9be9-bf097b5d71c7 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26a55103-a6f2-4e82-9004-024b599f313d phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1765a3eb-d701-4513-84ef-b0d8de4dce66 phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0bf87466-a59b-49ef-b8d1-beba942eb4c5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:83327a8a-b2a3-4069-8ef5-9c681de80816 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:61067f78-ef36-42fb-8b7f-861b872c6d18 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e30a226e-f9b7-46e0-907d-366bf9304db6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:44ec39b8-e653-4595-9c83-858c8479c39b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:516d32fe-4445-4344-bccc-ecd30be892ef phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:82938c4f-c879-418a-afc0-d1d07af99af3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ef8702e7-9f71-4a2c-b2aa-9ce5ce2b9586 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:44a2d914-8895-401e-b6bc-da601d22e700 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:33350f04-5029-467e-babb-8a385c14bbb7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bad7773a-8261-40ce-8d13-f366b6c34a8e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7bd07aec-64a6-4aa6-9321-9bdfc160b8c5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:26ccf560-b9e2-4c4a-9613-807e90f1f634 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a832564e-df48-4ca7-af10-76cf19899cb3 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:da17caf7-7f10-48b0-836b-aa6f1e721896 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:875dffd0-f205-420f-8133-e6798d2fca60 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e054c13a-0e53-4957-8442-91f74997de0b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a780d96-bc25-40ed-863e-939447e40ed9 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8cf84d7-a854-4cbc-a44d-5c4b4011af3f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6957e322-3ecc-4e02-a50e-b7694878e118 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d09883cb-2fb5-40bc-bedb-36bb97638ffb phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c84e98d6-242e-40ff-a17f-0233c1a8aaaf phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a269c3f6-998f-491c-b689-e11235d0fd81 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4605f8c-3cbf-4585-b43d-745de8eb6f63 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e788d79-0f00-4816-bea6-2d552d177448 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2568d9cf-b448-41a3-b849-d878babbd40e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:17a455af-83d0-445b-b6bb-57284baf4fa7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86e12dcd-f586-47d3-bdb7-d47d49857628 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11a14ce3-af75-4c8f-aed5-5a5458dcc977 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c96cc05-0e18-4ca6-beb2-9add22468c05 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e157299-9ed9-4620-bdd3-9b8be2f272ab phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f93e8ebf-cba8-443c-b5be-c3befe5682e8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4af63eb-c8b9-4a0e-a806-6d04b36273b5 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:73ac9bff-a55d-4409-b5fc-b7c748e36f3b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4bd7968-9555-4c05-91ca-0680c547385a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:69436bfb-81ff-4087-9d67-450c6218a766 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ac30554-ccf6-43eb-b683-df6738e0b23a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e9cf257-d845-4a7f-9f73-0231de603c5b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85ab0c4d-048d-4d78-9d29-1a6b14f8bff4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:36f2b983-1fe6-46d9-8de2-d8ed28f71cb2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1fc76d85-9e28-4a63-a6c0-c22154677e03 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4f26b8dc-56ae-46f7-91ce-2e2644b460cd phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d00d1afa-e5be-4d96-aaee-51237c6b6e2a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ea7aebca-9f54-4d1d-83e3-f7ba8a50ef58 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:42087ce2-a77c-41ca-ac3a-dbbae0d6edb5 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd31e336-07ca-49cb-9959-9ece7c8ce2ce phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:366b34b2-6594-4f65-bc05-c321a0f2c417 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e950b230-e9d8-4e66-85d8-b37c28e427b1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e31f6107-d7c9-4ca1-9cea-596169d35e0a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b43d3b23-13b4-4355-bbfc-9a4b79042cd9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:df584098-5e22-482c-8d8b-aa03db6028c9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b36fe7f2-da53-4fcf-8b48-24c5c7cd8f88 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f12d4fc5-ad77-4c32-990f-609b228c3e2d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9909371-5971-4fbc-83e1-7cd53c3a30d2 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a4d8c4de-aa01-412c-9133-8b971434618c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:40d9ed1a-0f94-4be6-bc82-f04eb3804628 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:98b782e0-6c5f-4594-9ca4-13553e0f6139 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a946191b-ac1f-44d2-88b6-086d954fc775 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:890f595c-8dd0-4ab8-b637-a274d2703d75 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d6ef40a5-c17e-4bbc-b921-f3f5c5e387c9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cc10b8e1-c8d7-41e4-8c33-b4827bc37cbd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c21a33f-4ee6-4127-aaf0-8fff80ce4f52 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d02b3f6-e4f5-4b04-80fa-ac637de09831 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed6b152e-ad81-4e3b-bb50-c09a4da5fab4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ea322ce0-f259-4f4e-8888-086146e6c182 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5489249b-9c98-4e6e-87c6-49ccaa8a0263 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:614d31e2-9a1f-40f3-a498-02a54becf376 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c4a51aec-c703-4805-884c-8254592ce8d6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e3c93141-c9f3-4ed7-bc58-eb852025d087 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20fe6071-3e36-4881-a270-83eeb0c1aaf4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc7545ee-ae7d-4b8f-a9f0-7481527140dc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2d6656f-8f7d-488a-9415-ef7cd837bd31 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:938f6fc7-1f9d-47f3-984e-a5126bff2456 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ed30dd2-c7c2-4239-9a54-3761755417fc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36a228a5-ea97-492d-b446-1981890a41bf phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ba0af3f-4c37-4442-bbe9-740c7d5724d0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:062b9143-2838-49a0-9f73-a395fcc02e3c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:998c689c-5240-4061-a2f0-e75d1acd77db phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c3f9e898-a60d-4805-b634-d4b565e5eadb phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c8e6b991-26c9-459b-b269-e63a4058a9c0 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0dc31eb-7f7b-4ad0-bc8d-0b5a075fe72e phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5cefb2d-ebc1-451d-a138-1b6ee34d5ba2 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28be842e-cd14-46d3-bb10-b172fd00c3f4 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:95b94913-85c4-42d6-a2bf-ffad82068238 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ddc9f4f8-828f-4e40-ba31-5f08d5402543 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:05c8d438-6bef-4531-9aaa-2d9ceae30c1f phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9534e51c-2d62-4323-b824-06459862899c phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:97ee87f3-06e7-4098-993d-4dd3bf12f94f phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ecc475dc-f4dc-4a61-9bac-f13fe6931215 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a68061f5-af25-4500-b40e-f0058209fff8 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0d6e59a-eb57-4f7e-8d49-ae7e2ec54477 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85900b2d-d401-4b1e-8afb-7f5b28bcdae2 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cba077e8-7efb-4621-b795-e7038247c8e9 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:959596eb-eff3-4e2d-95cd-84c6eefa7200 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a85ffe8-f492-4001-b110-e8381edccbc6 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ad5c2517-e47e-4ec7-8a54-46957e03ad12 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f04df54d-8092-4524-bbf0-d4bf05426280 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c62affca-3e81-4fbc-b404-833412053ac7 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c8f28fa4-0ca7-428d-a3a5-6d78274cfe29 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aba4dbb0-f5cf-4648-b00a-dee7ce225ca8 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5528f934-8c76-4c1e-a2a5-38222f50846b phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c213f418-b256-4387-94c9-0e7bc1bd143e phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e022f0d8-9c1c-4d28-832e-45181de03f09 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6ccd1f73-91d3-4844-b248-20f533611182 phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ea387f6e-948f-451a-8f31-d1070a0ce8fe phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:66abe2dc-8e2a-4f7a-b983-34820f0361bc phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd9f6f13-c574-4584-9f40-28dd35ea6cb6 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7c143d68-9b07-4f60-962e-4053ab7ebbda phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e7f56de2-a1f3-4170-a9c7-fdbcb438b9a3 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ea145a5-6088-4788-ac39-cbe6faa93d76 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c88c3dbc-ad40-4bdf-8ef0-352e5393da4a phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eea8f181-766f-4898-94ac-e9025e2a9462 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:abf45775-10bb-4076-a698-6eead3cec88d phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a17dc47-efb8-4966-ad3c-fc8c83b40f8d phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3f7a7b05-b113-45f0-a84f-3ea31f9a6776 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c8101903-8c05-4548-bfec-7c2b0072e51a phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c8c8a26-9723-4811-b864-2fb73ac34209 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:245fff7f-afa7-45d2-acb9-01570030627b phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f22a3751-138c-4edb-a8f1-1bb88af399fe phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4b2dec4-649d-4835-8c03-9caf3e74630f phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:db50f896-bd96-4f5a-abdd-207fdab07d16 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d0d62cd4-a49c-41f1-8fbc-b7d51ccbedfd phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c856ac71-cc74-4390-a32c-716ceb390c9b phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:853e13b7-932f-4a44-8bab-6a89c2381f3c phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb021469-370f-4f8f-99aa-340a43fba179 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4fe8a6e8-7b8a-4e0d-84f7-60c03eb17f6d phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:213a8fe1-df27-4f9e-8af7-6c7bb1485070 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cfc57f14-9a48-4226-8116-cc096d8ebd19 phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b24c84c8-cf8c-4ec4-b98a-33bcdec83ac6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c73b2f80-e547-4d5f-a794-b59bac977f33 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f480337d-177b-4a49-8582-a74bd01bbaed phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ba85214-e948-4019-826c-25c5539b24c9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e6ebacc8-b723-4a0e-b9a1-8a2b04b15ffa phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5cdb021a-cc2e-4a96-8230-59fe7f4f2949 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f89f61f2-eb3b-4100-a58d-1e6b61f358e6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b214a4b9-706b-4fa4-b653-a90f52b1e52f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2559d68f-461d-4423-ba30-8b9d82af8f37 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:29e44d71-29d2-426e-9ae8-6ac707c280f2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2d9961d4-4ac1-42c4-96f7-a6643c96e446 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8a013525-77fa-4a2a-a426-58be6a759546 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2ef3f6ff-8fa7-4384-a39e-889cc198c8f7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4946ebb-e721-4cc7-9cee-bafc00ce3917 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59dc534c-4736-4a50-a343-4a5356f0c759 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2e094abc-5079-41ff-8a60-39584733f810 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:712fe55a-0857-4ea5-a017-7a59717f5b21 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:015e2c0d-724c-4015-9306-5e0760ab3eb3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cf86c675-b4f4-4b47-a314-135edd7783b7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:20eb025a-c040-40c6-89a6-5ab6d8f7c375 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2cb2f94d-6818-4440-b161-93345d06129e phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8049cc8-0d5e-4e87-9bd5-9bc8470f659f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c312b8ff-c2db-4c00-91af-0c16a0ffa3e2 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f28f334-7536-4f67-88db-306296d4d64a phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25f94c34-bd89-43d5-8880-045027ddb54f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:caae7c07-79d2-419c-be30-488dd473e7a3 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a715740-90a5-408d-b75c-be9a14418486 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8952b0bd-3377-4029-8b2f-50b78193bf51 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:55c595a7-4c0c-4a63-86dd-913bb43e5f6b phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1acc830a-1b2c-419a-8f08-579d1374b6f2 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a53551a2-f920-474e-9e5c-7b8a3ae62035 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ecb3b6fb-24b0-4486-81b6-0290d44c6660 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:542545fe-4bf3-4142-b69f-1f4fe694aac2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:130063db-3f29-49b3-8d5e-def0bc5d201b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:897fb034-cd43-4320-8105-4de04054331f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6aed8c5f-e30e-4032-bb32-6d65af3824d2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99e97983-9f5e-41e2-85d8-36bdb8cf93fd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:27fb0ed2-29ed-4616-8939-d66c5fb6d681 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24f918ae-eace-4679-9443-4e4160a24d7b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09cf6c0f-9110-41b3-993f-ef085dbec4bd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2be792f1-ab29-455f-b037-7f8a3b1b0089 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ada8ee57-3c5b-4d6e-a3bd-8f57cf821c77 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54ea5a0c-3912-4f5c-8912-edd9f279d5ed phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a324ddeb-20a4-4dfa-8da2-e84e768d4bcd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8681729f-6a80-4100-ab63-1d0a3993153c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e51d752d-46df-41de-8729-0190e3f869b4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2a507b7f-59a9-4e90-86c1-5a702e5c174c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3669b06d-5fbb-416c-80d3-15e70f29ad81 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:301dfa58-9bf8-4e1d-a8da-0b38e79b6d71 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4d6a5d9-d31c-4cea-9b90-fdc1b4e68b69 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ad991e5b-bf38-4c01-a6eb-cfb76fa2b8ba phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:230b432e-0552-4e8e-8844-b9301fb4014d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:31cf54e0-44f8-496a-8cf9-2bf029787b7a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e6b17336-321d-470e-9fc4-d49c67102210 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:46a2f6f3-9531-4cc8-8c76-06ffa781e1c3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b8fec2b-af01-4cdb-8af3-5f77fddc69bc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f743c06-68e5-4569-82e2-06e83b319931 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d3eae126-efb6-4d99-8603-a0a5a6a34239 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a2b2cbc9-e553-4a6d-a327-c4e134fa3802 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e2be1809-aac1-4ffc-92e0-a458f6b5ff60 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aacedaa2-345e-4875-a607-f3216161a365 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0fcbb628-f129-421d-b4a6-bf12a2c33fdf phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d472e32d-a6c6-4371-92f7-2e67ecd9fd23 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:981a1ad1-6d84-4330-981d-ea8997794f22 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cd18d6da-c4c6-4568-a4d9-2cfd6345b078 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:794c46a0-b75c-4a27-ba18-a020d170b889 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f28176e-dc5b-42d6-bb99-fd81c4776d95 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:773c18a8-f1b6-498b-89f8-e4e96712ee60 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3fd2863-ca0e-43bd-8255-c035bc9ced39 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e927ebdd-0a49-487c-9198-41b9532dae49 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b6f80810-b3e1-4e65-9c0c-8dbfbb01817a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:95a39379-aeb4-4527-8f2b-83d4caeb2bd6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7848e17e-2f5e-450f-9e6c-e35cfe618fc0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:59eebd2d-0cae-4e2a-946d-f99a5fa100b3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:887bec89-d7e8-4da0-a4cb-ed83a63f6f89 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16d53ef9-9382-4052-9e10-9b5950ecc924 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ac86af26-6b49-4fa5-ac18-79bbb0cb9af3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4667f4ab-b8b9-4248-a066-faf9dfc49534 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a669dce-266e-4755-a709-6ceefdb3c3f3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cfa48f2e-c4ba-49a9-98d3-56717e1b0938 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f8e1154-3471-42af-97eb-009a8db4fd1c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03c5be17-b92f-4470-b04d-cd258d5f67d1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e7129af5-79d9-423d-a1b4-f844ddd0444c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bf91f5da-5744-46bf-ab95-4874a79edf4b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b314695e-dd95-4969-8660-47c3ad07b834 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:44f06107-51ee-4f01-a8a3-a9ad2b539ef2 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d2faa86-727f-46ef-a826-3dfa8e958106 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c1ab64c-8421-4157-80bb-5ded76ed4305 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26daa893-4cc8-41e1-b168-b872405a75e2 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:55749cf7-ff72-41ce-9de7-939f94854896 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:49b7f070-825d-4107-9682-7f6902b15d2f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e8139bb-8eb4-4bdf-a217-04c126631f1b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0a7a9fa5-73aa-4895-80cd-f36304b0df22 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ce823118-1791-466f-aebb-97b2e7904098 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0a3c5af-3349-4457-afa5-ef06d93be697 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:912eb712-ef72-4709-a39c-b64e14c1c1ce phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eeb6a367-f182-4e1e-b036-8696da235217 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c38ce7de-243c-403b-a34f-7a3ce65e0229 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d44e9041-cb53-40ac-9216-074642c37ea9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f8479be9-18ed-4d0c-8bc9-5792e8443693 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fb7b53da-a423-4da3-9658-a68aa7cf2d17 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1a87c764-df88-40b1-afba-e1496630ba19 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:535c7613-5bea-4bce-ae5a-a5af208b570c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:144edf60-a206-4ba2-8dba-48c8e90b5d7e phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc8251ce-1735-4a5d-8711-9b34084d4819 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3a575269-a09d-4edd-988f-2822e3fe0788 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2eba3d7f-0c95-40e4-888b-54d0d9ea8539 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:080e1e0f-1a27-4a5d-b2bd-bad08cf7a803 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:95948053-1c2c-42f7-b28f-28be9c172ac2 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af92468c-6f89-4286-8e32-09381f26ee63 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99a579cc-824e-4526-9777-a3f1953f2923 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ea5c3d71-3ddd-427b-9e0f-e29e8040d91a phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:29611b26-b389-4c15-bea0-d4dfda2ddab7 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0d4b15d2-f0b1-4315-8a99-880d7eec36ca phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c8ca9d21-b786-4543-a6d4-bdefee0bdbb8 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:384d9ccc-715d-4310-907e-afa1495f82b6 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:50721745-6ec3-4b32-86c2-2768c2975332 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:05814b18-049e-42b7-a4ef-3b0124f60015 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:436ad6f9-73d0-4d93-a3a6-4dd536e667f4 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:163fe919-994f-4cd6-8bf4-6607621779a8 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4cb910fc-ac35-43c4-91b3-08fc7984ffe4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c2f61703-08fe-4991-a7aa-4c3d8e2759fd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4132516b-c699-408b-8c76-e2f7da64c285 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f4cc9e27-af7a-4fd4-b66d-940154d31c59 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:14aad7fc-1948-498d-a9f6-c6ccfae8d5aa phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f720c3c-0931-4f65-a193-5e1f4e5f5792 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbe8867d-2aaf-4683-86d5-b34642235c1b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f813139b-7da9-40d0-ab28-61fee80bdd27 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7fe40552-890f-4b88-a881-faf4f40cd250 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ebb03418-28f7-48f5-96dc-cfa3d345ea44 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48287a6b-abcd-4525-8811-87a8d3c7e542 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1e2c6c4f-c201-417f-8a78-ba6c5c5487a1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:476aac03-2ca4-4406-b3f5-3dd3172ae08a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1afc1968-b92a-4cc2-a5c0-7060cb2db9c1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2512fd71-9f03-4e4b-aa92-6b587a03d2c3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e95eb0c-7e6c-4f71-88a7-d121ff990cdb phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3f08a7b5-f757-4022-ad21-d6d9c07bd3a1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:86acc31c-6a9d-414e-b9e0-be935865f277 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:38667637-5016-459f-a38d-63ff0cb93fc9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:359b3d1b-54a1-4293-9bd8-2a57e758b129 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99d5c313-3454-4769-9f7b-a4e66c7f1d28 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d72dfe42-7d72-453e-9793-2790986897f2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:075c7d50-5d12-4011-a884-3ddbbace3cee phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09aac1dd-43a4-483f-bf4c-c177ec0fa0f3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4881094-d219-4655-9d70-01c4a0623c0c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64d8f709-2f62-4b01-a71a-0173d8122846 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f0b5739-24f0-45c6-a0f0-df59226bb497 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab59aff4-9e36-4c27-8663-0ce74ca59e43 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:065b7741-a723-4b26-b0ac-0bdcefc4b202 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:318ca3df-52a7-41fd-9727-dda934c5f9cf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f22b458d-f0ca-44cc-b22a-c58936eb127f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37d5e11e-6e3d-4b01-b77a-f74c729d3140 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:387a97fd-497a-475e-a8a4-8e47f1d5bca6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:50ec5eca-42ff-43ad-a805-962663eb166f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bd40e676-845b-4239-bf32-cd8995054f65 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:82829c11-aa78-416e-aa96-589592ea9d89 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d2c39171-d009-4ecc-b05a-decd2c8558c3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2202f4bd-6e4c-40d0-b21a-ab9c4eaa8bb3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f672fd4-9ded-4782-b5ab-77b8e4f409ad phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c7d0a469-e01c-4c6f-b06f-ce25199a7aa0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7efbde75-20f4-4529-a08f-e6ba07b884c5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4287f182-696e-4985-b542-e168791a4533 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9067ae6e-8f15-467b-9e9b-56d1eee289c2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f9c650b2-3b1a-4178-851a-b2ab07ac38fd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0076d97c-76fe-4751-af39-f36bfd8f9800 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba982097-82e3-4970-a210-b921b94107dc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:37675fa3-d0e0-4267-8f2c-c0333f7088c3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4aa44760-7897-4277-bcb8-4bdea7f10295 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:497d2e8c-037a-4f2e-9bc9-87f94d052b82 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee101885-fd7a-48ca-add6-58f15eba50cc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:14653ad2-721f-40a3-9a52-fb18d3fc6aab phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:237148a4-6ea2-47a7-b587-f672de03896a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ef7cd0a9-3130-4c5d-96ea-59fe9b540db9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a76f1250-e196-45bd-920f-1e03939798f5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60d67784-bc21-41e5-b320-994692ced18a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c70f729e-73e9-4d1d-9470-deafa23e3772 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a1060c15-52cf-4715-b6bd-ea42cf5b410d phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08d67ead-a492-4d96-aa1b-7a50f8bce559 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:637b0bcb-14f8-4661-b8d6-a7e3ae1723f1 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b1bd314c-9c94-4232-81c5-cabef1c62d69 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:598b8c18-7fe2-4460-9e0a-9dca0e0bc7b4 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:733c050c-ae13-4d88-b40d-e629b0557386 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2ed1c475-d2e7-4357-9e53-4630bc3794f0 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94ce58e9-6466-4fcb-b3e8-01606c3fb111 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b94cac77-b388-4fe1-aee8-e2c9065fc0fd phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4fecffca-6ad6-4c7b-84b0-b7dd66c6d6a5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0aaef5c-4bc4-4313-b31c-4f3ae6afd1db phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3eaf0671-788a-4735-8af4-ca815852ca73 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4cb02b2d-8f39-4ab5-815a-ee21293ea842 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2e637b04-8387-40d0-b451-f60f904e6af2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:805fa424-d255-4f27-93a4-627a95184b81 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e9f3105b-95b3-4d2b-9d44-0d7dfc28802c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba2cf771-bdf4-497b-b0c6-7a04bf487db4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6536e294-9520-405a-b013-5ec2b3c56ba6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8654df1-b638-465f-b049-c722507e8ecb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:abc543e1-52d9-4e21-9bc1-9e684a665a0c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b75a3475-c3c3-4489-bc3e-482b2e135e04 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a73b6df6-2a74-44ad-9a66-ade7c6eb78d0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ee93b8c-5e56-44db-8acc-10c13ab5124e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:44199894-eec0-4639-8561-a7a1c8712a3b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e1aa49d-432d-4b3b-a9d5-31f5fb93bd88 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1c18c45b-4c93-4aad-b6f3-7db3e011574f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94ffba17-44df-455c-a8f3-1750f4686b98 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57ee0395-28b2-4159-a1e2-5aa305519687 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f358203a-97f2-4910-99e1-efa57609d703 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ed74025-58c8-4bba-ab36-8fd19bb536a3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a08518c8-5b38-4ab7-805f-d874646ae8ad phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d5cb9aa1-5dc5-44eb-b5ba-c7b765d67376 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:95664cbf-d146-47f7-b092-584c3ae4cab3 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6f53b2b-52cd-40e2-84e5-4f5292d7ada5 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a33ee0d5-d074-4e44-8f8e-8858d34eabc7 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c2beac1-0a7b-4ae1-a271-981d04f54398 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:069599ee-49d0-4ab2-97df-be77fe4343ce phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7b06bbeb-e5ab-4b46-97ad-20b04e6ced5f phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43867568-dd81-4131-a794-08915e798d1b phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb92cc95-ab29-48d1-950d-394423b0a96b phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5bb3440f-469f-4d75-97c3-b6ab75b4a07c phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1f28b8a6-92d8-4a51-9c34-15bd5778e2b9 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2ff8657-fd52-464d-a253-90ad1b19132e phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:747e8432-e0cc-4d9e-b66d-dee7c1088b5c phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8d07ef2-211b-49ef-8bec-c592900b210e phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a55ca5d7-f31f-43f8-b9bc-9c578208b6ae phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4ec8d95-9618-4eec-8977-7df582bad487 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fad5fc97-0021-4375-b681-cbf76c2be81e phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c37ad19-484a-4293-8145-b7d4329e3d0f phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:014576f0-1905-4da7-9418-ecad7583109a phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c73e3c31-68a2-4b3a-a74a-9687ee626fbe phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e1d37d2-3d09-4aaf-88be-14c587fbcde4 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d6207049-3e65-47cb-a9cb-93b1944a7a21 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57e76a87-c1ea-4b8a-ac21-e0e0afe3d7fd phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f728b725-e8f6-4839-867f-d5afaa7f31b4 phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:950dc1cd-38e9-459d-a1e0-f6d9bb81ac9e phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:147b651d-991c-47a2-9026-931e617dc94f phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:009d26ac-d870-48a6-8424-d46b7dc09015 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4cbe24cd-9787-4500-a58b-7d48211dc01c phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b721e5f5-2983-4065-8672-c2a7d57fa7a0 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:72232725-703d-47a7-8143-dbc7042b15d8 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b6e4638f-9ffc-426f-be90-b8db92a1cd24 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee101e3e-9981-45f3-bcd3-81a5844ef61d phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7c7bd251-4257-4e8c-8972-63d74f9e6baa phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6ea83ad2-6b2b-46e6-97cf-1bbbb222c73f phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:34e9c62c-f032-4230-8ab5-205939be244a phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6363ea7e-9574-460b-86ab-62bcdf73b5b4 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d09dbdf0-5b6d-4218-8d62-d339bd4e1db0 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b5e9047e-0589-4c18-a2e1-2d821f197f59 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4af462e7-f18e-48b5-9bcd-69020ff9c418 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7cccf13c-fe81-4656-8f33-9f0b49e8b3d1 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7936071e-2581-4986-8a5b-c0ffa30c0ecc phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a38f63d3-0fc1-4376-94a4-daa9ce333622 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:782e9ca4-fa51-4b76-a922-4bb706132e19 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b83540b0-6ffe-4ed9-b239-3ba89ccbef02 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ae179a3-c43d-4a89-a41b-32cb6eb76cca phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e71890fe-b686-49c4-9835-6c95f9955824 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1220f543-d9b2-47b2-aaac-f551d26f40b7 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48936d5a-9f8d-40ba-bc1b-02882ee6e9db phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:58a18dde-6923-44b0-81ba-5aafd9a9a125 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:73f01ba6-ccd3-437f-a7b5-b922b51419be phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0bd5a91-6ff8-402e-982b-db6536b30ffa phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d0d4fd77-f5ea-468f-952e-4f7f4d71d202 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:639bf31b-4e4d-4e62-9285-2040b7b2b464 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:033dfdd1-cdc6-4d6c-aff5-d2c444d47098 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:55603000-6d54-4169-a260-2a19b0258c76 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3e61a2cd-ce19-408b-8da9-c9d6aae41acf phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d228f52-e8fc-4545-90ac-c9ad2fc5e057 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a1bea11c-8321-4351-9129-5efab8a33ec9 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e10ea801-1762-4574-ad5b-2e6fac8ffe09 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03ec55c4-0399-4d4a-9601-0996d6b5da2d phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ade85c0f-53cb-40b0-bc2c-3bb32f26a92a phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:746a5640-1a51-448c-8d21-2d7d448cd669 phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3083f40c-4d77-4f51-9ebd-8c1648756ddb phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:917a0663-ac9c-42de-9921-a1cf9bf74108 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:630d1d86-33d4-408f-a3ca-ffd1fcd37449 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb23c7ed-5c81-419b-9ddf-32542d7c072f phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cb9df868-fa87-4869-886c-e949c46ca82c phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:649a48cd-b049-4ddb-9ce2-91d37ac7060b phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1c74e401-d9a6-487f-ac34-eab1ec49a96c phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:69af42a8-f7e6-4ebb-9c75-789457c6a650 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:579a0ea8-1bfc-4769-b3ea-3f6265107d1c phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47db364f-915e-4729-bb1a-b03a2485cb9f phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:830a6541-9a46-4999-846b-53fb200f1ca2 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6566e340-ad62-4f1b-b383-851e022d6499 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:68601fda-7267-4e44-9446-478606408de9 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a2a8721-a9d0-4361-b202-153d0171dadb phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a758642-9817-43fa-8fb3-947dec7a31e4 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cda57e38-f9b8-4902-a4ba-5398e4292390 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:10f77f3f-f1e2-4706-b003-9a1aa762e00c phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a939f55f-2cce-466d-b2a1-72a5f3df1170 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:242bd4c6-4dec-4fb3-a17e-75541a74829f phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3633dea7-42bd-45a8-a7c2-ad899f127442 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b8da458-db13-46ce-9ec5-f29bf10af8f1 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:253f7f41-7896-4579-8fd9-1c12cfb3183c phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a1abe9f6-6a4d-4fd8-a757-be60f5510242 phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:85e95702-b848-46e9-b1fd-f6750707050f phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d1de801f-7ce0-42d0-89ea-cba363ae0bba phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef4de48d-781b-4b37-8c4a-c7be2db63762 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c826f7c7-c6b9-4ad7-9ba6-5a3ac5874da0 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5183200d-b23a-45af-bc42-f22eefb525a5 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12a3452a-e7dd-4ff0-a006-8521ca7409b4 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8cb6ce19-e7d4-4ad1-9861-e1138b53161d phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:be6eb408-2cf6-45d9-bf80-a4565777f27a phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89885a96-1d28-4c96-bdb9-ee3fe0263b2c phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:29e9153d-ed24-46f5-9e02-c7167e1ee55b phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db04b322-66f5-4fdc-8808-44dbc1101559 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3debf60-343c-41c0-865f-fd024e70e410 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dfb6a0b2-c6af-4a7c-a18b-e829940f4e7e phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7beffc2a-1bf6-4ec7-ab1d-8d135ba65052 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c78ef725-31f7-4210-994b-c03b7feada17 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:db853b0c-bc61-4fd5-acef-96dcc7fc9ecf phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a315cd4c-8c17-45de-b882-1d86fb094035 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83d06fd5-006e-43e3-9890-9f6159b1d87c phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23565347-b6e4-4337-996e-1aa2a1fb7bc8 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a1501cf-5ab5-4fd2-af97-1d6789dba180 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3aab2504-adbc-4b86-a195-e4d8c53eb366 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b7df4b32-8c94-41b3-b90c-7d4943b97924 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35d55e6b-6cea-4828-8798-d7c7b8cc9557 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8d0c6d4-bf25-4093-a07e-f302d98fca54 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3882b81b-89e4-4f78-9f46-b1fed6675ea2 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47468ece-365e-4779-9298-d3b3e17e06d0 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:caeda7b1-a84b-41d8-b95c-c7339b379dc7 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ab75b5d-bb02-4442-b1a5-bcf935f66924 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5504992-00bc-4ec6-8b23-50e4f36b4622 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35b2a512-e3fd-4ad8-b55e-965de3cda6c1 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4622344-3c48-43e0-a108-dd3db8d72284 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1de89ed-8ee6-4151-9cd3-3fc974339b14 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee0c39f5-bdc7-48ab-bfe4-e55cd05587ba phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d6702075-bf41-4893-b632-7805fb7688f0 phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f692e92f-b150-4c29-b0ea-7f1866e6de46 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:23c353f6-a908-4236-9b5e-23106e23c0d0 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd190219-cc6c-4e65-8f21-dfcbaa27ca93 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c3eeab36-6cef-43e3-a08e-f77097e34613 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e15f5655-7c2a-4bc0-8c5e-369c5daf04e0 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a74e0dd3-6e1b-4070-86f3-00e3f0682a7e phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbb3f34f-9830-4334-a36c-053c604ceac2 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7a9aeafb-9ac3-4204-b25b-2ac448e34280 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2d981533-60e1-49f2-8d0e-ecbace6814f4 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2fc28230-cc86-4ad9-8b5b-97a997e5156b phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9dd2388b-03e4-4d2e-82ca-8112335d961c phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:423d62c1-d557-422d-9946-1ec89ff64b13 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d2f67c02-dd52-4b17-99d3-264bc2456ab7 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b331a32-a010-4817-9d08-9ec4c5cfef20 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e7727906-6964-4918-b504-558a0a6a393f phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1ec153eb-adee-45d1-a745-8613e8755d3c phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b0bc05d-f54c-4f93-b1e2-1a99a7c658ba phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e24959f2-fe0b-407d-b29d-696c3762ae61 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9d809225-61bc-4510-9cca-5e2b055595a9 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c3064675-fe8e-4091-beb7-d6f0849da82d phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8ddbd62f-39c1-42dc-a432-91ac37f0df9f phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:042594f4-810a-4b03-a4a3-526aac83c2fd phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1958542a-c502-4381-aeca-dd71c0e12222 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5fa5960-189a-4c35-a2d5-c733862d93ac phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a343493-e983-4c18-9e13-8c97a1ae8859 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6cfb26ad-823e-4b87-9e42-fc7e05889901 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7511c2c3-bbf3-46e5-b26b-ca0a08330d0d phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d81c535-de0d-49f8-93a9-4245e9ff0751 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:936409da-28bb-4ddd-b914-c913d60529b3 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6cfe6003-5296-4c7c-9c6d-99c567766a89 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:93f9ec08-cff5-41f1-a41f-696943918b01 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ac58aecf-6903-456f-83a6-589295b64bb0 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e0f7f410-f5ee-4f02-9bd8-e21c0cda05ff phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b41b548-a6e5-4140-9917-80dc370a7b7a phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4e55bf2-13b1-4901-9c35-824e55405647 phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:14d34d45-18fe-45bd-a2f6-5d321affe8ec phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b7aa8ed-0218-468c-a9a8-e35a3f57537d phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68649263-fe97-4784-95d6-f1a2123569ba phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:caa11a8d-b13a-477f-9959-affadedc69ce phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d444eec-ad11-42ec-a6fb-b6439a5eb7bd phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ac6892c1-82ee-4d69-b4d4-ec07277f48ee phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b0dd583b-1fcc-4723-9bad-60741b16a321 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:963d6f7d-1691-4d21-84b1-68a2dac13d3b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7ed9d5e1-4b03-4df0-9126-2296d58e4129 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:16f90186-3b81-4250-a210-10a9d025f54b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d32e306e-ed0b-4d46-a141-335a5166523a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39b7d526-c088-420c-83f1-06e85763d4b8 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9a6b642e-89df-4df7-9c0c-71ffd18f526b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ecaf98f6-702a-4c7b-9381-698183c756fc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f99446e6-4625-4ce2-a918-8c65e568c4f1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe39b48c-dbe7-479e-bd11-fe9e28d968b4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f34b5c58-35df-4caf-9318-b4364728f27a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a093d456-bc14-41f2-b17e-81f04344d546 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a43f3c0-5c59-4505-9e5e-8035ab0d0a81 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c387aeb4-d374-4a2c-9765-53d72465266a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c538708c-4c81-46d9-b009-c7874b366e4f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac7de499-be20-442a-83ba-ab91dbc65036 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f1489e9-39c7-4050-a246-1ae4d7820aee phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6528156-2336-4603-8eb6-4a7556283d21 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2ff547b-d39e-4b7b-9303-d33060fac1e7 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:aa276c07-460c-44e3-9880-68dd9f791172 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:aa40fb0f-2c2a-4b3d-a49f-bf1f7d124e95 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:95c0c50d-f87c-4e61-91da-b8b560680007 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:79a1c7e4-f4c8-4ada-888a-6205a6e21e1b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7c41c353-5a47-4924-a35d-44d2de55095e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9210b992-9a9a-4ded-82d7-53222a459aa1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4110bb84-d2c9-4557-a9d2-a99a1b7503ca phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3afd3577-1849-4c59-bcf3-a8683b5545b1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f080b25-5f04-4fe7-a6e2-d35505ad878d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c8006756-f6bc-47a3-883e-f4c1f20fd416 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:de5ea60a-4ee8-4beb-9195-1025c9c6a4c8 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cc2d5477-9551-486a-96b6-5a1ecc69f70c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c412f8b4-be6c-4c3c-8bf3-43feddc88acf phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4cb20dfb-e993-4a37-81e4-a06ebf546d80 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:31b6a3f7-77e6-4d7d-8c45-07a16f80b212 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:adacca0b-07bf-4f47-b72b-d4700e7bb67f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ce88b7de-b6c4-4566-892d-b992accc7a3c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7c0bfc6-71b5-44a6-82e6-33bf6317bb59 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5c51b022-af61-4e79-91da-6aae425bd082 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d4953e3-cc98-4f2e-9c6c-242928309f9c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1c31e944-8c87-49c7-9015-c8b82f64b7ed phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ecb9620d-76b4-41c6-8936-9749c10b7105 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:034797a1-2c80-4fe2-b3e3-c0e286fc3355 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efe58b5e-2f22-4bbf-9e22-9712496e5cc2 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1212e42b-d10c-4d9d-9e00-4381030679b8 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0d4c497e-9579-4cd1-ba00-dfe3dc48f3f7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:366a64b6-b708-4c4f-882a-5a6521a1e201 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f49091c-772c-4eba-82cc-7588767a8e9f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8887e1bd-066e-4cfb-a5ff-3447f00a0de6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e92cc33-a0b0-47bc-8d6c-0bdee1e9b08c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ae15a79-d955-40e3-8458-6f1b240c912d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:54ff5e11-71da-454d-ae40-cab519d2c527 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:aa13ab0e-f117-4aeb-b9de-0d82ddd90ac3 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2240246c-85fb-4f6b-bd88-708404abc031 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4e9cdf5-e5b8-4acd-b85e-d43acaafa9e2 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:31566d57-c53e-434b-98b7-654c2f457a37 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a2ba5fa9-0827-4ed7-8e79-59e419ba226d phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:31e2ca58-e28b-4775-b895-41425862fbe7 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5348e8a-9fc2-430a-abc3-c7eae6210c50 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b21fca9-4b5c-40f2-8223-38c94a766d5f phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c865b88b-7901-4413-bc8c-946ea2f31039 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1b1fea88-62ad-46ad-a551-305a01cf7d3d phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0c28b03b-77d6-4e3d-8e19-b63ffd42fc32 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b2eaf64-354b-4b65-905b-01b89585d29d phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6deba1dd-abf5-4e27-8c0d-4e08b177b54d phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db8cc191-19d9-4aec-a56a-b854caa9539f phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f9c06d3-eebc-4cbc-bc5a-2e59a8e1bbfb phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:252bbf9d-8d1a-414c-aa6d-a6fbdae8ed6d phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:340b8aff-001d-42d9-9ab2-0e1c262b386f phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd5bbaa4-ca46-4c91-ac2c-90072f23aefc phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:90c2c680-85a9-4561-af87-6b0b9a62a31c phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:96bb7830-b091-4215-8fea-78accba335a6 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0f67e31e-c753-4736-962a-8c4b3de99690 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c958f7c3-32c1-4093-bb3e-1ce907229f14 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:49abb00d-5786-4649-8821-c7787b18b5c8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9bf9a40f-9f83-425a-a0b7-5e5af08ae46d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7b49af00-30a3-43af-be99-74f03587e963 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5c74f117-c359-44d1-b02f-801ca9299b93 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:abe31033-96a2-4eb2-b494-e67c242efb41 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4144fed5-ec62-41cb-8ff0-fdfcf52a882f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:13aba116-11e3-40b4-9ff1-19ad1e56c061 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:399a0c8c-e753-45e5-82a4-0b551eb209d2 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8095b9bb-2c03-42f1-9e53-4da69c93e453 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7713ed1-8c9d-4679-98f0-c210fb42b19a phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ebee8f65-728d-43e7-b9f4-763a272e96e3 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:99a370d1-d7fa-42db-9a8c-93d906a3c15f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f54998d-7903-4396-bc28-05ea0c2de574 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7635782-2ad0-44a6-a454-e64c5344923d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:78cfefdb-083c-404b-afaa-c79f3d9d9bc1 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ebdc88ff-7b8a-43dc-a0b8-52f1eb33d427 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4c70b27c-57e0-4b12-a356-8056b77d28e0 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:69d89110-a34e-4174-b562-da55b5b98e95 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cae9c949-4bfd-406e-aa5a-d8b0094958c1 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7773cbb-5eb6-4a72-a640-44c191cb1f51 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:46238bea-0110-442a-9ff4-78b973a53990 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8dad0176-8576-4355-939d-256d88439dc5 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6cb7976-23fc-4bbf-9b55-955bd146521b phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f4a3681a-3aef-4832-b2ff-8d065ba53f54 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3bce7cea-33c5-4995-90eb-19f60cb80f68 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:130bdaeb-8ed7-4804-8293-3afc5c289dad phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fc8a715f-cc4f-48b8-a3f8-ac4ba3612eb5 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a2dfa1a-30b2-4b77-88f8-231e9b6825d8 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bb47e608-736d-471f-9205-6dcad67621cf phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:032913cf-2102-4206-8c79-792c19df496e phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f414556-b19a-4961-95ce-598c816a3664 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed4ca9cd-b0b7-4a3e-9d11-bd68cda74903 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9523ef82-107a-47cc-8522-7634531ee368 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39bb34de-a1c9-44f5-9596-492422bd5f7f phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d0f0155-109f-4c7e-afdf-cf98629f1189 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b73a594c-788b-4e45-9656-8fe875885db3 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8c755f86-cb2f-4669-a2ca-00f995ff16f0 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f8677bd6-c90c-4f6b-887a-7792d1f88b09 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b3da49a-28a7-45dd-aed3-7a7db820e9cd phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a015f1f5-00f9-4083-afab-48b8d19a1308 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1f9e9b5-6001-4af8-8574-36400de8af9d phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f4932904-b0ce-4220-965e-7ed63d9924b3 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f846bff6-0dd4-44c9-89cb-3866b2a846da phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:06009ae4-eded-4620-95e5-e3b1ced278fc phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f1d0a3e-f3f2-4ddf-9a8d-74c08d4d1b3c phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1610e1c4-4727-4420-af75-65ee3ca9afe0 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:922e3a98-74fe-40fe-8b4b-a885373a17bc phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:087037ff-3482-4979-ab82-77597b786f60 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b9152dd-bb4b-4e8a-866b-908276c6e99b phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:06cbaea2-4a9e-4b8f-b29c-95907b09fe62 phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b705c620-b580-46e6-9858-25ef102b1316 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:30f228ce-e0fd-4d34-8a59-06277b12dd86 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:73400264-e9fa-4b83-9799-c9ac026bb48c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:157fbce8-9cd0-4e1c-b554-56a1859a714f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:030c9607-a9fa-4460-a595-197f35ae9466 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:aec70657-7fd3-4f70-a812-fcf6bf6be2a4 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:40d9dc6c-79d2-4000-9aa8-0ebdf4e75ef1 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5c2336d9-08cb-4217-af8f-8fa985c72d76 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:67f3e1eb-e590-4526-a41d-5c66abeebb16 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fec62dfa-42d8-4d5d-b967-efdb1e714ce2 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd820be1-5ae0-40ab-b4af-43163d7f0d27 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5023f07-bab9-4a48-bbd4-07c597c3f8c7 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:98391050-9f6e-4b51-8d97-1192ad36cc99 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c79cf765-fafc-4cac-a467-720d1e15052b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b9ce800-106e-49a8-a5d8-b61ad2e35e57 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5badbbfa-a676-461d-844b-4f6dea0035a7 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d5d514d4-deba-4dad-8ecf-95233c33b3e7 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2678549e-74e6-421f-b023-4949d5e3b21e phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d4023ab-798e-4777-92aa-05f513ab880d phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b1dc1407-984d-437c-9dd1-b7935bd3498f phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62a44e7f-371f-4fb3-90cc-b3807b56f215 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fdfa062a-8db8-4087-9373-65a1ba04ceef phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0877ce30-0059-4418-b682-92a1d28f3d83 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c93b65a8-bfd3-4c76-bbf8-dcfd99a6f5a7 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4d51a4fe-5bcf-47c8-a89a-7cf874175f18 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60014b26-d1c3-454e-abda-f8127a814e75 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:15865036-6d39-41e1-b677-067071c53b5e phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9a493544-5e27-49a6-81d2-22b51926c155 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:485f2481-37c1-45dd-8c08-e67642221f55 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d3c83cb-d6ff-4cb1-a848-5d238cbd2418 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a0054e9-5244-47d3-8667-c463465155b5 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ebd1a24-9c8c-4c42-93d7-14143ac5aaab phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4f69627-01cb-4e4a-976d-24ea64d44f38 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed2c2fb0-350c-40cc-92b6-3c0e869f7e5a phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49be1d60-8c8d-42a5-81ca-28e01d35748f phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bdb89310-37ea-41ee-b412-fb7862077d42 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bef6763d-824f-40f6-8655-754982e3b397 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fbe4a22-69b4-48b8-b660-b66fb97f4301 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5f11fdf7-420d-41fb-8a81-ee1502ba7198 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7854a987-4ba1-4c75-8b14-d70293e2994c phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9aff0453-45cd-494d-a533-946dbe6ac13f phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc3d26d9-86f8-4ee7-9609-f88e94887a11 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c38d81b-0d8d-4679-8948-0ad0c4f1685d phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:907bc6a3-9f56-496d-a543-3953830822ab phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cdbb8392-fefd-4af7-832f-18619c5c2942 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:61485914-6e2e-4b59-a956-86ecc793a215 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c551b3a8-6655-4992-b6e3-d6cb71a73856 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f7de8c6f-7cf2-4bf9-9d5f-e304c954068c phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9585d27-9fb3-4cb0-ab9e-f667a4f16cfd phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d13a4150-7f21-4695-9f76-7d9422915983 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e10575a-a6c7-49d5-b819-7bb58387dfc0 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:427cd161-16cb-4727-8306-8227b962f531 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87a093ad-bf63-4891-8450-10259fcac303 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:385c415d-9cce-4a1e-88dd-501f0b46111d phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf07ed85-8ac5-402d-a02c-7ff38ec110a8 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ed30243-9f0a-43f3-84e8-f574858d4bc0 phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d8b2e7e0-79d8-406f-bc8e-d3653cc19b0d phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5bacac37-abb7-4003-8241-2d7701ab163e phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c4c394d2-2843-4ecb-8780-10841f7a2412 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:127b15e6-09b5-4250-886e-592f39837cdf phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:49464734-237a-4bc8-87e3-4c862a64cbfa phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3d2a37e0-dc40-4418-b4df-77faed593260 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a16d4df-d31f-4df0-a52a-235d64c191ce phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85c13d1b-daee-40a2-b32f-e67db5ba9544 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9715df39-48a8-49eb-982e-b4babf1d433f phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3a381944-55fa-4aee-a1e1-f7c4eb4b2358 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f4931ae-c484-4a94-9c41-2e6e6759c935 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6cdcb0b2-b366-4e79-9bb0-dd162fc7fd5f phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4308e690-2dc2-4732-8a46-7c020a49763c phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd88cc68-ac76-4059-8985-d632846cd45d phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0dddcb3d-196f-4bbb-b7e9-dab6ebf873f9 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9834194e-1535-4300-88c9-e67215685d26 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:780ef8bb-f27e-447f-8e6d-6ab0cc9fb2d7 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68bc8098-28f8-4b58-bfdf-2aaac9a96e57 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8655b267-c900-4131-a6ee-d129389bcbff phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:25907c1b-b29b-40e2-915a-9592ea043850 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8d2c3251-2f4c-412b-a197-5ce945fd7497 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e901e227-b45c-4119-b211-6b62bd2ee6cb phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:63f1cc50-c278-4c50-8598-8230cb10d2ea phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6a4d345b-8d0a-4014-8d29-ad16864921e0 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5a6a8877-17ef-4085-9c13-38c6f10ff0f0 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ec54e33-50dd-4dc9-874f-5fb112bc4a0b phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ab985136-a539-434a-80fa-28eff6322580 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8fdea5f6-7554-46f0-a9e8-46da3d40d5fd phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed2d6fe3-27d9-472e-a494-aa68f6d9acb7 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:11318305-296c-4148-b5a7-4da9241ea096 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c11677c3-c2e0-4c22-a56e-852b057d0bc3 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:de47d1c6-b579-4422-8069-449a47fc21b6 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8994a8bf-c2d4-4610-98e5-5ded3ed4c0f9 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ddbc45b7-2724-406f-b69f-5afe20dba78a phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8258ba0d-8ed6-4a2c-a66c-54841176338e phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a5f28da7-f865-491f-976b-3b6961a26e07 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:95c87154-5c5f-4831-b4c0-dea2dd67317f phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a0d7ef4d-0b04-442a-a28a-b944765d8315 phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1ea7bbb6-9497-4ae4-9d79-fcf484d9f68b phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:63b9b937-325e-483b-b216-7e4cd06e9300 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2295b85f-81e9-48a9-9598-8fa765148fac phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cdb17a5d-bdfb-4097-9b97-fd9ce58aad0b phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4cf2fccc-dafe-46cb-931f-501f220aea79 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db130abb-0e8e-4314-a0b7-39a42864b528 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9bc11b0e-fa02-4f24-94c3-75ba8f6ea1e1 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9896d2ec-0dc1-4387-8174-a2b464747f73 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b958f440-7bf9-47cc-83a6-10a29f3b4cf1 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90b452b3-6c7f-4f27-8fcf-71a3b367077f phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:daec7923-b650-4236-8d2f-effe54580b95 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1a34f78-da50-44d9-8c78-10a4998bff7a phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b0c53eb-671e-42ff-b427-1912063a9cd5 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:05ce5c66-35b3-450e-beaf-5541457b10e2 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cbf6c5a0-ed90-49ce-8ded-ca42f78777b9 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:274e02b1-412c-46ae-9d60-16e8131528da phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d9ce48c7-c4c6-4ee6-af9c-a64733cd6cc1 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:86ad799b-df8c-4ddc-bfa3-896d448fe1e3 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c518779c-3d56-4f01-8587-79bdb42831c9 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d37142df-26bd-4ab8-935b-554d1baf925b phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4471559b-fc13-4440-9871-04d51b3ee89d phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d7e3384-89c0-4b23-98c7-6378c5a7c842 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ab79edb-fbf4-4ecf-92ab-3bf8ee16bbae phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:41f75d0a-7dab-4412-8e64-1cf6426dda95 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6cb49584-29d9-4d6b-acb3-9bdeb1b60253 phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3f9f7341-cb00-4cad-967e-1672fddb5be6 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:81e1a136-2f54-40c0-8aed-b960241f4569 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9aa85560-3790-4838-84f5-6cdcd750fcb3 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ab6d2e1-a5f5-49da-9958-53124b7eee7e phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c90b7a76-d819-4c3d-8c5e-61c38ccef4b3 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d0743935-3583-490d-8b80-43d91328c4c1 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00883f7c-abe8-4028-808a-86e82eda00fe phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0dc43829-af06-45a4-9a44-4c2a64b8b631 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5c67e65b-4ef7-4a2e-9d33-907a80a01d57 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb67565b-46fe-419f-b83d-9280cd3c8021 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1dd72e0a-f78a-4e47-aa5d-c8c1a7c21046 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:da8a12ff-cf52-472c-9787-a29dc5ef058a phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fab8a4f-5a2c-402e-8a8b-b5ab34084846 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:631413e4-21d2-4401-bc25-71eb26db0d4c phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a086fef-ac9c-4d9b-b496-5a552c93c0ba phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d0ec7a9-8e0e-41fc-9e66-05ca71ac4bd9 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d482e58-57ba-4920-8bbc-69ac84425ce5 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fee52e9-40bf-470b-8578-da7005224ec4 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f47eb90f-7f37-47bb-805f-1a1a359965d4 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb7ae0e6-0dc2-4db7-b2d0-f6106808d2bc phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7369eb55-8d7f-445a-8235-157693dea227 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:10c155af-69b1-422d-8d5b-960374b78cde phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ea83b66f-cb69-47f2-b9e5-11832da5eece phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:036746a0-840a-419e-bcce-5c3787c804e7 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4dce50dd-d1b3-4a58-97de-45953cd33aa0 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cdd8b6da-4ea1-4679-8ef5-af363c844f1d phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76a21dbd-1492-451f-a3b0-1c72f5f06773 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fb28a1ab-2b22-4492-b9d4-23b2c2eb5e9b phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4f76ae7-9ecd-4fbb-b3d2-5e00c0b21c81 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b6da9495-52e1-4403-8381-1b0c34d43d8d phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9671b5b-22d8-401c-be09-9093ef8ba755 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c1b2aed-869d-4181-afff-d9652c4a97f3 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e10ba08-ea21-4150-b2b0-4c3e2c50745d phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4fca1112-bd80-406d-98c7-5626309130bd phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5040bdb4-31db-497d-968b-10536e5a7788 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eaa1998e-2966-40c2-ab13-26d9c9283f5a phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d0f3d88-8d9c-4a55-931f-b1d260b02ac4 phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17d2c810-e721-477b-a4c7-5cab1325178b phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e64b2e3-0e8f-44de-9265-f0d7978f5efe phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b08cd43d-1130-4d1e-8a63-b4182ce48dfe phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1f8e364f-d79b-49bc-9d40-eb80104b69ed phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1ee5b268-c417-45a3-9e45-3c2ee4e99da4 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e674142d-9ff1-487c-ad7b-75b3c21f2f76 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:517556af-fd39-432a-8801-9f7780263a7b phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:44f40887-09f3-4b7a-965a-9b285f577fbf phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a87fe00-66de-49c7-b01b-599e5ccf3e1c phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f7460649-66bf-4d9a-b2db-07f9c7422d4a phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:faaae308-5290-4468-8c90-73fb10e8c2f5 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a02035f5-3226-4b07-b06d-4f382378f767 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c66915dc-b900-438a-b2be-f7520fd6b0aa phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd92da8b-74c6-4eca-86e4-bc8961cab219 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ce0f4ec6-546f-4827-8bb0-4d1892080ddc phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f63d7735-f8a9-4a82-8831-db45d9277593 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6462e4f-6a36-47a2-a890-056bacabf0c8 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec2cbb40-583b-4232-9452-90c50cd4b5e4 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:24bb7963-dea0-4ffd-8af2-17d52e7106aa phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0df49a84-d66d-4e30-afa7-6f530694ca05 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7a6e53ec-b468-45da-a150-50dd6adc1718 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:609ac70a-1091-4d34-ba4b-5f258a9ca4e4 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ce84ff1-c615-4c5e-9f82-2bcf19ef6125 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a477db5-4b1e-4a2f-8685-decd666e2d7c phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0fafe2f0-a921-40d4-9263-e2eec17bd8cd phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5c50c70b-f5f3-48d1-8cae-1627b903be1f phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:04611bc4-13e0-4044-bcee-28e663b8361f phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5d20c30-e72e-47ec-96c1-aeb3632c0eb7 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6458eb07-5c55-477d-88c1-779698ac2794 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fad45bf-5058-414e-b751-0c2439811ac3 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ee4747a-70e5-45e3-aec7-a112be34d50f phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e3979312-52c2-4305-ac44-7ef5fb735564 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9f3d115-26cc-4218-8799-a2e4b83a0fbf phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b1e12c6-15db-4ab7-b09a-9efd3760621b phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:08ddde5a-a8ae-4617-ad4e-ff43a358d564 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7a048c85-ff39-487d-bfa4-cbc324cc498b phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b2dea39b-b051-4926-97eb-1ecb28131e4e phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b434969e-3a71-46f7-b71b-c387b5f6fc98 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:395fd0f4-c8af-4a11-b0be-1cd6b1edaa28 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e990f565-40bd-4d18-8473-181a1b1b049e phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:861c8267-fdff-41f8-a4ca-f57f942b2098 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8d0c7760-bc28-4297-baeb-a246f2fb72c7 phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:44d38f97-d443-4205-a730-5e426d361a28 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08d4f15f-3115-4a4e-94b6-393481f34ee5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:332eaef9-ee8d-47cf-aba2-9949aa0c13bd phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d8f7b8d2-7e1b-4705-84ea-703afacfa5db phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cd1dff0-72b7-4f95-a274-0084499854d7 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1876b27b-93f4-4617-8db5-c72cedf0356a phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c60fefc9-b761-4d8d-9479-41904ef2b587 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9fac9dd-92ed-42b1-bbf4-628876a36db7 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:325ec914-c730-429e-86c5-c922f5d9efe5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c41d30d4-080d-4d18-86fa-6adc1056e954 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3f9aeaa-6e62-4e71-804d-75bf03696ac2 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28756936-cd11-4484-b39a-31ac649cd9af phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fc1c916e-3368-418e-ace6-ef9c4f72bd1b phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf7a2168-382d-4cca-aee8-27d4af4ae4f8 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:633855c0-6750-49f2-b13e-89be23747665 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:53bc84de-0ddd-4ef7-9f56-b7bf615fddf1 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:68c1d33e-6919-4069-a525-06cacb96a758 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:267bc2fe-0a63-411a-aa9f-06e1a0413881 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3cf5b03b-f4fc-4b8a-a22c-82b5c4b36c1f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1eb8ef9a-337c-48d3-9a21-dc21f39ced01 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f41fec0-da0e-4e43-82a2-a1f3cb6cd701 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3969597a-5c45-4326-b4e3-1537633e181f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87bc8ead-fbd7-4763-be68-1976520da248 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87786a4f-1fc9-4311-9e54-740a0780adc6 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c6c6c25-c44f-4a74-89f8-d1ec6a1ad94a phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:896888fb-8a87-4a64-ba75-91e145d3aa52 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e8762871-114f-4148-981e-ceb63b0e89da phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01194f3a-449e-47f4-a3ad-0f2384468022 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee0e75a9-45b0-4a91-b8f2-b0901545fb48 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ceaaf359-91a9-4291-9063-e423937aa685 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af1b523f-48d4-49fb-838c-1453d2b82821 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:407529a5-7d45-4106-aeec-3c87c3988407 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c2e010fd-2daf-4e37-be48-0d0ecf1b9575 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ade4980-3a0d-420f-bf10-8d70827a436c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:88657708-5ea1-4294-902f-39e66656164d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dde6cccd-6add-4262-80f5-7718b787e4a6 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0373678f-4821-4678-9d32-b5663ac119ea phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63376a76-e007-4590-9bcc-bb09f751ae9c phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1064c613-d30f-41ba-968e-9c97c696c9c0 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e206970-04d3-4deb-8270-9825ad5eaf3a phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28b6ad88-5836-42bf-87e4-18c9062b2bad phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:27353c09-9f13-4219-820a-0d476fe6e7f4 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4620bb2-3b52-4949-a365-8db3be9915e3 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f80f2cc2-d6a9-4d10-b9f8-3cf5b5b49645 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4d90b47-9cb0-4a75-84ea-4bbe54e51a9b phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b4e2566-cc14-440c-a82e-34d7dc106f67 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a52d9f2e-9fae-41bd-af78-38814ad165cc phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c46ea83e-bb8f-4b3e-928f-34a60ef5995a phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6db263d7-50e6-4558-a719-ac0b5afb8d19 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:371e032c-3361-4ce7-ab85-b1b630369b1f phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f2c60d5-c505-4123-b1ea-026e1b6098d1 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:925d36dc-1aab-4f8a-a137-a7d3d6b0069b phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b174c939-4ba7-43cf-8384-a0b4ed1e0444 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:882cf6f3-c54f-41d3-ab34-ab7bfb2199be phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5c8ea7a4-4eab-44ee-97e9-d4a0cb0608ae phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b634fc1-e3db-481c-97b9-2a5b1fac401d phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f496fcb0-a006-4f17-ab4e-da4d46ddbf42 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16baf74e-5e45-45a5-905a-537a3446d145 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f12a03bf-9cb7-4458-bdf1-34d0cc9a4806 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:12c63fb2-bc22-47f2-a63d-5569f79b5f81 phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ea37846a-ef78-4dba-95e2-c29a3d8fd92f phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9b971f86-a095-4dc2-a9f1-f437a5e994b2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6c03e610-66f8-458c-95f9-d5b7d7545d35 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7421fb16-e696-4d73-816b-ca029ce7e848 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2998dc7d-a4bd-4d02-82fe-2821b6454f26 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2cad7c2b-ce70-4516-8221-bfdcdfdb9333 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:44ede9c8-6087-4c1c-84b3-82afecb8b284 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c38b6651-364d-4f09-8fb1-a8f2087ec39f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86fc53fb-5962-4bd6-87db-eea061cbe02b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:10c56b24-58a7-4f07-ac5a-6eb160f03110 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8821ae52-df53-4d21-a0f7-701fa0ee6976 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8d9eadf-d617-4e80-a087-c1d35c1b3c15 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:977beb60-3836-43fc-9279-52d4ee821614 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91cb89d1-95b5-4144-8693-bb1b7d1fdb90 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:38a7b11d-946f-4b4c-8651-23657f299a66 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4b4ed1e-deda-49f6-8185-e376f8ac14a4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:650b300c-20ea-4ec7-b7bd-efaa1a369466 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5315c15-43ca-4337-ac92-63dac94a7aac phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4333ba6-206a-4f71-a66b-305410eedf8c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:78034b1a-f537-4900-8296-d4e5c109d320 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fe3120e7-483b-43b8-9f14-64f09e02ecdf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:822daf56-d596-4773-86cd-234864d860af phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bce2678e-defd-43fa-ab51-23ca77a4bb19 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ee1a7ff-cd2d-4da1-b27b-22029f433465 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4e4cfff-4243-43c8-998c-e11a01baed04 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3dfa6f0-fcfd-4227-9545-1eeba3dc2e0f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6a473580-ed0d-4bf0-b5f6-8515bb67e717 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8d9cc3ac-7c52-4e5a-b0f5-92894a2b18d2 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab911cf2-1c77-443f-97ac-0da467bb4e11 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c74e0d7d-7d8e-4376-8333-10fbed8b9980 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d993f94c-96db-4d22-b0b6-c8189a46cd20 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9d7cb486-e4b1-4e2a-a968-68257f0ea3da phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60d92c35-0880-497a-8962-6cd708fbb1b8 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d2a69c37-9db0-43ea-889c-5962edf02ab5 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:521b0d7b-aa5b-4c39-91bc-1694578b7402 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:233facda-ec82-48e1-a5c3-e62b102e586d phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ffc68249-8dc0-4d4c-9aca-0ba30ede76d4 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fab9fbb0-5624-4fce-ba2e-e1e1beff86aa phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d3df142-b761-4bbe-b4e7-dd9b198b40b0 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f13ed9bf-af2a-4ab2-adc3-0691a2d90d46 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:88b7b671-1fca-4d37-a370-29e0dd438fcc phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:861196e3-8efe-49a8-ab63-38716a9021ad phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7b14771f-0eee-41b6-997d-cb2302df56a5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:885ab769-db4f-4c29-8da9-2d47e9d88d4a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11fe9dd3-22a5-4fcb-a998-f5412116fa68 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:858d1f92-c539-4873-a3bf-65d9eca0de99 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2fee4547-f43d-493b-a5fc-f1e20e283523 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:046f9708-f22e-46ed-82e1-cfe4d5556ee9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d713d1b1-c4b6-4e6e-85b0-49e1c2e96732 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f0b2f8b9-3f67-4dc9-a97d-b782e512b3b8 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78d203b8-621f-4173-8b97-7d4fdded5c48 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e049fc57-d06b-46ce-ba33-d6071605e2a4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:07801a0a-49bc-4a23-929c-57793d38cbc7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2771ace-beae-4265-88f8-4629d0fbf1c2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d44f4bc4-d94a-4b20-93c9-d1d63382df38 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:17d24cc3-51b4-4f59-ad9a-983ef0d1ee7b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bcf5e55b-d844-4339-bd9f-fba74a22a455 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6722c046-8a61-4d03-b721-4c35dc8ce049 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4676933-0ccb-43b5-968f-4254cb8054e4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e7705562-682d-48f9-a444-c3487d750618 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0c6e2c83-f637-40cf-bcef-41e57fc6b20b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01b2ee0a-67d9-4655-a1a0-7533f90ab9e4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6bb5c1ad-cde4-44b7-8521-9bcfb19c1773 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:499726cb-148f-4556-ae76-34750b40a3c5 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:127b6496-8c0d-45ec-a2c7-a6edc9cae7eb phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b188fb2-2885-4d43-b48d-5920d11e325b phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3c9ffb9-1fbf-4ffe-aa43-55fed13416c9 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad077957-0537-4937-b5b8-fd9985aabbbc phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:96a6044d-9848-4851-b266-147c71b01cf1 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1d6e983d-f6d4-40af-af7b-36d327ce8ef2 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fabdb03d-3e2d-4fec-85b5-9ea073eef19d phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ea56374-cc04-4f01-a873-bcfcb0185a8f phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0506c6d7-afcb-4c93-995f-a1a1ce780343 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:538d6bd6-a3da-4169-b31e-345aed49487a phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8445a60e-2538-46b2-9358-fa1d852fcbe1 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c2d4ab89-e6f0-49b9-bc95-434177b2e3b7 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78c227ac-86eb-42f8-b307-fbbc8d87d999 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80a0d12e-6d01-45e6-b23a-61eedd7555e5 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39719222-aaa5-407b-a7fb-3494a14c2e54 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4fdd1736-c885-4c1c-b0e0-4088a41ada0d phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:82ecc8b8-6e40-4623-ad23-042765933c9d phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:643ff5e6-296c-4892-8ac5-b05010520945 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd7f9867-198d-4a1c-b2fc-5b7d6865ca02 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2502a38b-afa7-4b67-a514-c82b35275e6a phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ab89539-75bf-4ad3-aa47-7b930b138ff5 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54b633ca-f6f7-4ec8-b159-0ced686a9540 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4bad604d-3a39-4247-90a1-04e68d697c72 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:166c7d24-2c7a-427f-acdf-fa055642f6b9 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:40a431f7-aa4b-448c-9f2f-498e522350a0 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e110c772-e9aa-4876-b23c-797bcba72570 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2aa4301e-e684-4c74-99ef-5b2e4efd89b8 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:38fa1e04-4aac-4db5-ad23-11b83230d128 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e6da160d-b8c9-49d2-98a7-8f6293103052 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e00cff0-b86f-42b6-924a-192f5da53d1d phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee55d688-2067-4f8d-8c0e-a1df3502be38 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f65d76f6-2d64-4bcb-91a2-ec9991db0db6 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7fe5123a-52c5-498c-90ee-04068cc73803 phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4c81a70a-a4ae-4064-ad4b-7e3487dbcbc9 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f1d4842e-3d3f-4fbd-a121-f3f3b1453403 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:148355b7-fd85-4360-888a-65838eeecc3d phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36df63c3-cd19-45e2-b546-edb2f73e1ed3 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7c37d8f9-a2cb-496a-ae46-659d9ffc01c6 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd9ac634-3931-4a0c-b4ff-a144ea388690 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1cbfd733-e9e8-437d-9f3f-d18da0d903a3 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3e279a2-bcef-4f14-88e4-fc8e07d58ab0 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68a3bd05-10b2-4e79-8f1d-12fdeca80d7d phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b00f259-ce77-416f-8f4a-005642d02eb4 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:22bed119-d64b-41e0-aa93-e5e954b805ae phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0fd54b6a-7fc3-45ed-9c54-940baa9b4058 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8868876-673a-4538-97ca-a20d4d64bd24 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee59da41-8fb9-46b5-b838-edf39cf68d88 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:631f891c-ba20-401d-9174-e6f33a37cfbb phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2938fe6e-af3f-47e7-a9d1-bf3d8a89ecda phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9aa85979-ed08-49c8-bd6f-ebcf04bbaeca phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:58055c1c-09f6-4862-9fde-d2fe5f22d2f2 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f8f878f9-4985-45c5-aa8f-6381b7e49943 phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:21c790f7-f1b2-424f-a044-e4eabe3357f7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89262125-45d6-46de-a6c1-1c301e407441 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:14bad7e6-feee-4f14-9de6-d7edcfff0338 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc82de1a-5d07-4ae4-95b7-cbf455fbb10a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c399970-b4d9-42c7-94d5-2c3723b75fa3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:964f4728-1d2e-450c-8d91-fc0ded4223a3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5dbc4b88-df69-481f-a885-0c959d131998 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8edc47e5-80bc-4911-934c-16bc39a11918 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1483026-4d37-45d1-a436-dd7eef9acd26 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4b3866c-889e-4643-9f3d-f193a314e6d7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f6ea79a1-e346-4d54-835c-30c9b66434cd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a3be06a7-46cc-4e71-91dd-5df8824b2fe8 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62a5b60e-717c-4690-bfb2-c628b7ae109e phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:80384106-ec5a-45cb-af01-df20369a5c78 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:255da80f-73b3-44ef-b064-b71f0bbf997d phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a53fa01-21af-42cc-a7fb-4854a669ce4a phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:086931be-88f1-46a5-8200-85d2bae5a3b8 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c82fa77e-0854-4ecc-94bd-154f2748636a phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c394f432-63e4-49ab-a35c-8cee0b189b54 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5550c5ed-f137-4730-9e49-1f73bd92eba8 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:55fd4d21-5504-428c-9019-6a4ad8a2ff76 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b9f4ca7c-80f9-43ab-a044-8b2460b5933f phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e319a65-0206-4c82-aed8-3c655fa65a50 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94021908-814b-4258-9321-c87f2c43b3db phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ab9d1822-f591-406c-add7-83fff82ab371 phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4f3df5b8-18b6-4844-a700-d6f07187c94d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b7c7da8-a491-41fa-a43b-67795639e813 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:819bbd3d-cbb7-48db-ac08-4862d1920f91 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed6d8f7c-11fa-4ed6-a48d-2831663484a1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:245a5303-ff8e-412b-be6e-7df81967cdab phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:816f9ca0-b925-4e1a-9c13-104a8a08d04e phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:53b28022-4bfa-4e07-91d2-2f3d2e8e3f22 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c112484-471a-4e77-a6ae-539f2a5e6d29 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b13c5e0c-b45b-46e4-ae39-389b412d6a5c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6b218237-fc95-4242-a07f-44663031b00d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:77f187ba-7fc6-4996-93b3-ee48d8695b6e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae41813a-53ff-4e55-b064-edb3643aff25 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b18ab410-461c-4cd9-a77f-7dd5eb021a8c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eeceec1d-d420-4874-b8cf-d8a85473f0b1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e9c9244-e0b2-4ada-96c1-be7416f2e31b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:423bcb07-48ae-462a-8d85-a8937417f6b9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0a1922ae-0285-4384-aff0-6de61ad9464c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:037d88de-3b1f-401a-8ae9-e46eb52b905b phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aac4dc1f-b3f7-42fb-ae08-9d012ed99714 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0c1338e4-a738-46e6-a6a1-419dbf86286c phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c485ca92-0742-42d6-a650-9a1b1141d41a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5b38157-d134-4e09-bd08-85744af1541a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c152766d-c784-4684-9d19-61edaff8f8dc phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2018f700-24ef-4b22-9d20-06de761b159a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab704ef0-c3fc-4e7e-9c25-b8ead6afe568 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62a56dd8-a730-420f-b85f-d2e304f8c1c9 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f056bbf-a626-4657-a246-f5e90521c71a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:13258eb5-289f-40ba-8783-dcab07430e5f phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0615283d-bab6-4a91-8e16-0b900b9eb6fe phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ec133a3f-4971-4c50-b9ad-712ce2c4b194 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:071c036b-a8e5-4fc1-9636-33547d9da2e3 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee7fbb72-3ce5-4c30-8c11-e41c6f2ee472 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae4fa125-78c9-4c27-92d4-78322c376ad3 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d3cd150a-8ca9-4af6-a079-7722bd522cc7 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:804c8ee9-8480-41c5-9793-d88f6586be51 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aca4351c-091c-49c5-8d8b-c17640c6ca16 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae8f5d76-ad09-487a-816b-32b5a46ad9ab phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f0f9fdcc-b5f1-45ff-8948-9dcc9f3aa0b6 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43400f9a-d484-4e43-b067-9b4aabbba220 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:be70b413-872b-4f60-a65f-f67ad9347c91 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd526fd1-1b5d-4885-80cb-125a86b329a4 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2235862f-ddb6-438d-b284-9f66426e0971 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6cbe7812-39a3-4113-9067-9f89866cbd67 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fb7ba0c7-f4e9-452d-8679-114a2872a454 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1340aae-c5ee-4c1f-b9d2-bd1a99fd9e60 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc1e5e13-672b-4ce3-a556-dfdbe224234d phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6c6594bb-bf14-4a18-987c-5ff995c4257f phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd039c48-8e1d-4fec-9f44-6905fd2cbf1a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60ac0ff5-38b0-4592-bf91-4325d4837c22 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94d55387-adf5-4548-85ef-ae6f914dd87a phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96582836-323c-4bd9-b1a5-45c8b206f381 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2071f2f2-cb78-4dab-acf8-fd469be79967 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3e03017-4ebe-43c4-a3a2-fda8d52a0f07 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c4b5cfe-25e5-4e01-af4b-34d8a721190c phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d78e225c-25e3-4d26-ba32-79b540e7a204 phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3cee4b34-c2b5-4971-9698-232d7879d26b phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:229b6f36-50fd-42ea-ae58-87aa73099cff phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:df093676-8f39-4772-a8ab-81aa55fb8bcf phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:482fd911-8aec-457c-a36c-102a9ca91d3b phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:deb2500f-f9ee-42f2-9deb-1d341151c424 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8b98d1b-9af5-4c6c-b5de-2cc156fe4311 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a30d96da-2064-499a-bce8-f8e5a8909ccf phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb408c0e-cb75-4448-aacb-7de96527bb0d phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ca62577-d6de-46e8-bebd-9cdd90da6cd1 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:34ee6083-663b-4455-b792-b548220979ba phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c893486d-55bc-42d9-b51a-2a472dcd2d36 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0fa717a8-613b-4b44-948b-387f49dec11d phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b45c63d9-af8c-4286-87c0-2200294f7ddb phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fe50926-21fe-49d6-9290-5db78945fb18 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c474afcc-cbd2-4a15-a5cc-e3897633fdc3 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e818675f-53f3-4d2a-a75d-401f453db42e phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a08a713d-cbbb-4978-89a7-60d733fec788 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b21f7ef9-00ac-40f6-94e4-e8614125d318 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:df2bca67-daed-4818-bde8-7bed7a3ed510 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:af47ea4c-6be2-4cb5-8203-57b14218c848 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d9d58b4a-fc71-48d1-89c8-15344714cdf8 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26aa9a95-cc19-4e9b-b2bb-499d1d4ca6da phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9f4ffe7-57f2-4232-b044-96814b5856de phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:173f0b31-ff44-4faa-9ac7-753f94289c43 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5fe60059-619a-42b7-85aa-2d1f0de359f9 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6be16adc-5c85-411c-ac17-03b1a74f0aa0 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:283b0ff9-a5c4-46c4-9a9b-460539e97b82 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f46fe5e7-1e44-4f33-9d44-614a2602ba6c phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5aa2a7e4-8ae4-40a0-9a8f-822499d7a99c phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b22f639-ca1a-4aaa-8035-b1de884d220a phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a50da18-ce1b-4165-a14b-4c8b2d793b15 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b5536198-3b60-4f36-9f0a-29c20dd68861 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:911592e2-6387-4023-823f-a011ade01dc2 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aaab1175-127d-4bee-94ab-3ec190bf526e phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f6fe113-a259-4bad-a036-469e83bf4d4a phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76584825-bcfd-43eb-86fb-fdb9efd9c621 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c2dca6dc-3628-4672-9026-22918ebce47d phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:62d385d8-983c-4422-bde3-9fdfdb99bc23 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:512dea86-b330-4f11-855f-71b398d46b88 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba4333ca-604e-4d50-9bba-3f6beae0d721 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:278db065-f21c-4c8a-a370-e027784198f8 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:074599a9-5bd4-4a81-aa72-1ea5c53cd190 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eafd5f85-5abd-498c-8354-b40012488174 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8116fd21-94ae-480f-bfff-a20113f65de5 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:187a9555-68fa-47b1-9e25-185ce640e4b8 phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e5c8f686-52a9-466a-93c8-eb77654c2ae4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4caaa3b-fe7e-45a9-a6b7-202e63d6483b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:45cd412c-c663-4fe7-b686-de2702eaa644 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4d470cee-95a7-4814-bb6a-92aaee310c33 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cc3c655d-8c5b-4444-b76b-a7ceedfaf39b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:45c1a7ca-392b-4cd1-a040-a47cc08cd67c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c00d7220-5523-4a42-b362-b938c2aef038 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ece8b59f-b82f-48de-a16a-1da2df0f37e5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f818256d-75ca-426c-81d7-79f003577f77 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32922b7f-059d-419b-87f5-9ba747754d29 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aeaa86af-028e-4d8a-b0b3-463d0191c599 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a57ded33-f102-4571-bc07-3169e23ef838 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b2d61335-6669-43d5-8764-e4598273d7f5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P36 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:977ce499-de38-40cd-a9c8-f3604219c9d9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P36 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:516dfafe-eb5e-42e2-8e3b-e4705ac99df0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:981a6222-930d-4a1f-a478-ef2c005e42e7 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P36 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:674f3bc7-b023-4748-9544-034dacd84470 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P36 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:df140dfd-d046-403c-92a7-ae75a0e227d3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a5f1830-b37d-4a21-8bde-1f15db355b9a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5019f01a-c1ac-43f4-b82a-f75520784f7b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e7062efb-a46b-489c-b051-f77a5ac313aa phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ecbecc07-d746-493a-b550-36be3b0f4c9f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d8009ccc-3ea4-44df-9819-b3223c44b0a0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26cecc57-738a-4de4-a869-fd9662adb81c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40656d40-e961-468a-9629-0227218616e1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19ecfe4c-181e-4ae5-aaf3-4d22d6726ba5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1af024f5-33c9-4aae-876a-4421bf4b2d8f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f289774e-2b3d-4eef-8f3b-48fdc560d033 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f28fa45-144f-410a-ba73-77619ff2ec77 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5bf0429b-95f3-4325-963c-65565963205f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4c58d78-1ce5-4347-879e-0a8b830cf961 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18fd1def-0a05-4f70-b558-f938a1d30455 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3b4535c-a6bd-4431-9759-fef29dc24b2d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2eaecdba-d7f5-4089-b919-b0f815730350 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:036fe271-19d2-47f5-8b69-b21c5bc98feb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f1168c6-0ecd-4ccd-bedb-0b07f0cbb401 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6c69e23a-fda9-417a-8d1e-293420675b34 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ad3bc0a9-502c-427c-ba0f-30feb5739966 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37f42c27-5e03-48d0-9f57-fe576341460c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:158af052-898a-4f09-a680-ff52fea61380 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c09752ed-2b79-4ba8-adc0-7d944cf2402f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:31019812-e670-4142-bdec-ce83a91a374e phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f862251e-cbfb-4553-9b67-b31e37fdd82d phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3803af52-cf64-495d-beb3-1989ec5ddefe phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec858723-8d77-41e0-a548-f4dae725c18b phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bb28459d-16bb-490b-9382-3cb30a305db8 phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c24a72d2-2aa1-425d-96f4-7ea28bf73430 phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:691c30f9-a529-44ab-9b25-f29997b30701 phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7f2ff20b-347d-42ab-8828-33a669ca9a4d phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:40380290-fc02-41f4-b85c-998823d98c91 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2711ac75-ad68-4d9e-b916-24bd09a46075 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19fbc369-6f55-41fe-a16a-13430fc998db phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c886cc2-e7e1-4bc2-aed8-330d6cfe6089 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87f53b9f-f7b1-47de-a2b1-900ba4663d7d phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6168b13f-87d8-4128-bc92-4a403cdbef4c phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2fc87b20-2f2d-4188-82ed-fba94479e600 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:447c53a6-4613-4b24-a8ff-00ffaf376720 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3070f772-f598-4008-b436-041038f6980e phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d3f3c3f4-0790-441d-88d8-3af85fff8de0 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad022157-844f-4d11-ae3b-0548ef50a317 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:53c0124a-e7a4-4578-b209-9c2049861c5a phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3734883d-a965-480c-ad70-769e07d46d06 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1ba377a3-7457-49ed-b273-cb047665ac3d phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18f97508-571c-44aa-9307-485a5708a14f phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f2dcdf88-2a08-45be-b90b-0a561509d592 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:902ef3a1-e169-438a-bb1d-d72553e30e18 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5fa76dd0-54b5-4dfb-b630-89d3eb035173 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3ecb47b9-d105-4506-9658-1b0c228c9382 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7a336dca-1801-4981-a19d-eebfd5603eaa phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ec89f1a0-466a-469b-9d2e-3dc2d284a65c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a26e4275-aeda-4a57-81a9-4d9fccfdac63 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d1acdd4-72cc-4826-ad64-fd57c79fb092 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad685d5d-4100-48d4-8f2c-9d8933741df0 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1a6a76cb-21f2-479b-bad3-3e780ded2596 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25c3abc5-d092-4ca4-b24c-13d335c86bf3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c2a074bc-de28-4e9f-992b-2626e41050dd phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d465e201-0075-48b0-998c-54782d7606e1 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:980cabb7-b504-47ca-a8d2-5af4e7aac8ce phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08246bd1-9be7-4ccf-90c3-12055997f042 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ee75e52-da21-4eea-9bb5-e9d52c97f5d0 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37d11b24-c223-4262-a018-d3711469beae phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aa33541b-0cc4-4247-9305-c664f1c9dccb phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:da5750b1-a5be-4feb-8d05-4fc39ea3cc35 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6bd22c47-2307-434a-8ddf-13d343b7ba1b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4da5e3a-1764-4bdf-8187-d287b7ab1c78 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a44d3c97-c932-4aa5-8e6a-255045dd0e88 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:38856fb7-8ddb-4c52-9a0c-716717f1658c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:092db662-b308-4622-9f35-40115fa43e8d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:69f44182-074b-45fc-8061-4619f81bf8c1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:611c37c1-0c5e-42d6-8028-de1cde6cb5a2 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd78a11b-5518-4c01-b98c-34bd7337d490 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:10a708c3-ddbe-41cf-b9be-b851e73f4074 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:866c8aaf-b955-4fd3-a7a2-c8fa6cfe31e6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ff1b6ae-74bd-43b6-bb6c-081287db639b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1484f93f-33b9-4d19-a596-47efd52da72f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3a5e15b1-7932-49df-b3f2-bef180a09ff5 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:892767e9-d6dd-4fd4-abf6-8519a7e2cfb6 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e2761b4-21e7-4f6b-a566-fa79939eac67 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a0c58e1-e452-4c49-9014-d5766afe0931 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eabb86ae-1742-4600-84ab-9058ccf2e03b phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4959803d-a9cc-4eab-a52d-a39ba62899c2 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57d328f8-025b-4791-8585-285163cbd6e8 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f878ea7-89b0-4d50-b9d4-751733f1aff4 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1da7c8a9-4e58-4364-af7f-c3f344a86cb6 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5b0dcbb-119a-48e4-934b-7580e8892075 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:de3278ee-40b2-4539-92fa-67d02b2e0643 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ff6f112a-53e8-4b69-9771-e56f8fd7aad2 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0df009ac-2ab2-467a-9e36-1bad73c14930 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e33d2888-5d64-4051-9a15-1831905180eb phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1e569759-6376-4736-993e-04460ae7a6a3 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:93c6b886-e76f-4c63-af0e-45be255d1800 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e4c2ac25-863c-40f0-880d-9b0af8f87986 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ca955d33-8748-41df-b7c7-2859d19ccb8e phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5f724611-6653-45b9-9960-22467adba5be phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b2a37f52-a8cd-4604-8848-01ef8c4f2304 phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ecfb919c-45db-4c0a-a53d-7decd1f58fb3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4bbb6540-4a1c-4c2a-bcca-1f749ee95104 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dc67a50f-6f09-47e6-80f6-d053338fdb95 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3dc22575-a322-4d6a-931d-d01e05fd17bf phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c899a73b-0161-4077-b6bb-89697908f28c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62757a97-b15c-4b9f-b8aa-bdc325f999c6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:23aeb1ad-6919-48c6-bc6d-4de7b33f678b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b712a488-ec40-4a43-a952-1f357c2788da phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:96bdad36-3dd2-423f-be94-e37165423fd6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:81c9b182-3452-4f14-a1c7-61373e20f04a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b013a536-5884-4718-b80e-f110bab89bb9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b03b4a9c-a1ae-4b01-979f-31c829819cd5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ee226a78-8cac-4688-8199-30a8a6badaaa phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b47dbffd-8b3f-434d-acdf-e20374af05c4 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8e196be-7b0b-495f-9526-c2c6358f50c3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:840eadcc-3db5-49be-a62c-913df5954c85 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83fec797-bfdf-4b1d-94ed-a71304c774c3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cb01a31a-b9b6-4cd0-bef1-6a36e935adad phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dadf2118-bb18-4f58-8194-dee5f3832c85 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b43a2196-fd7c-4181-be0f-a2e589a9f653 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9ec86b61-e448-4d0c-9f0f-82ab7449913a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:95d6281a-6420-4f00-a5c4-6be4fd876db6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7dddaba1-9aa7-480d-87b4-898d84150f2c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39fed89e-245d-4f5e-93a5-ba95418dcc75 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae53f8cb-b39c-47bb-bcc9-f283e2e8fc2d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:08089c77-778b-4eb7-8f3c-4c06f2c69c99 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:31a2012a-90ec-418c-8447-70c667cd87c2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16e4e71c-aab7-4214-a8b5-97f85c883145 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d69c35bd-0def-4d2a-afa7-62889330086a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:81d3311f-8e45-46e3-95b4-dbe236291aa4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7897306-53b0-48a1-ace0-4766958228fc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d32986ea-7c2f-4797-89db-83a17f0d5f10 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e6d8f99-2ab0-4615-8ebf-16dd254f3346 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43f0ba57-1bc1-4579-aa03-79cf4a29ab37 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae76a60e-b111-4881-9eab-40948ddfcd77 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:276a044e-d409-4210-a485-1aaf969a30fe phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c59f6503-40e2-4718-9ca2-93715f5595c0 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54391bb8-ce1b-4328-9909-e77b3167fce0 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9807acf-3ad0-4b77-95ec-0b91082ef198 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b1d644f-6d4e-4b45-8fa1-2642ddabc970 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4294f298-6544-4645-9a49-b2c9e77d518e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b5e1c031-fb65-408c-9041-46028d665002 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:377a8136-3872-485b-b7e0-5a71ecb92fb8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb7fe5a7-932e-4d09-af2f-3561bfdce910 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:170c7fef-a73d-4346-b53a-7bef3fe4e4f2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f7ee4c4f-66ee-48c1-bba2-e28af06c4bf3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09e39a8e-fd55-44c0-8ebf-e1f5ba5c033d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7bee238c-296b-41cb-a8dd-aafb5bae5c91 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90685edd-f59d-42fe-a672-0d0e24d69304 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b75143a-0e85-4b1d-8eaa-beca73027cd8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a13ed22f-f346-498d-8183-a4c8eddc59f5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5bf2791b-2b21-4c64-8fc6-47a0ed1d7934 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d66de1eb-e5f5-4e10-af92-8f6e7bf9b973 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fed82be6-4f8c-4b9c-940c-9c61acc4caad phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:048d09c6-66b0-498a-900a-01b6e7c09c53 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e644ab84-89a1-4986-8201-f6b0b8e7be07 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ccca9168-9499-4309-b566-cdbefcc28d01 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:832bc03e-3d24-4432-80b8-98d9c880cacb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aaceb9f9-e186-472a-a4d3-28d22f0fe197 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b0ad4040-76ac-4d05-96c4-ac88a05d4abd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d93b5c3-a8a9-4968-914d-c1a07d2ddc39 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18fce52f-e55e-4bd6-b9ad-ce35ee9fa0a7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0cd6259c-b887-47ca-8b0c-804c8a50eae6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bc612330-2924-4fa0-a835-b55faffe0c24 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d2d23e6-92f1-4e41-b5fb-517d701a49cc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:affc8993-d7a9-4374-9f8b-3679f5d2e957 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6180cbdf-e4d0-4f6a-a971-ad008fb27d00 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0ed282e5-442a-4319-8749-23226e2e4d84 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0ffbf5c3-ff21-43c6-96e4-03b864bcec6d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b40f5058-67b3-44e7-a94a-d608a1b23620 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93895025-c257-4772-84a0-9057e550a8b0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9941994e-4eb2-4a94-8e80-ac9678204d4f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c545e539-08a9-4707-8ff8-f42896926255 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:777585c6-d4df-457c-b58c-1284cb05494e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a06e003-7137-4550-9cf6-ffbddb79684a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:14771248-383a-4507-8989-2ea5d5c6712b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e3ae6f76-a35f-4d31-9fef-38d68cffaf58 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d34c8be5-8115-4704-aa39-ab4278aa6b69 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f15d4c64-743a-422e-a300-b89734ea998f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:718fa14b-42b6-4500-a182-59301443f47f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:174d5f70-a89a-431c-a130-6d67e8ae4425 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:36bca186-8271-4d30-be0f-d07215df68e8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:759e2c14-6431-4b16-a56b-feeee35f6372 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:27f717d3-49a4-4e7b-bfac-4f3edbde5987 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:540a4077-02f9-4509-90e4-95dd152ce49b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3ba22063-50ac-4b4b-be32-86fce7805241 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:beb67077-0e95-4dcb-bd38-bf56b99ff82a phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:db8e308e-0b3e-49f0-973a-f1bcb77eaa6c phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:967c16c8-c0f7-417c-bde2-70ee663b2aef phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00489c01-6115-4689-967d-d2119e5522ae phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e06f9a78-566b-4813-b45f-c29a4dea6e64 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bee0d803-c6e8-47e6-ba43-57a0495a4137 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8da7e612-5fee-4c92-9295-3294dafb5236 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c915921e-d1a4-41e8-9237-033bed5cb0d4 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79411b26-0be1-4f06-99fc-eb0da0469a7a phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76f65c9a-394a-47c1-b185-6fb9e0612c87 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:70bc77d3-91be-4c41-a02b-fe86c19f26f2 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:567fd02f-46c0-46a1-b9be-f0914f398a61 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91f9e310-7ec3-4f29-b6a1-6db6890ff946 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8cf2b14e-8167-408f-9afe-026b55b2cf92 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5044361b-38b9-4259-8ce4-13fadb23cc83 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5da0a358-fd26-47d9-96f1-5c4e33515791 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e07f832d-f562-45cc-9cde-4873caf4ea8d phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dcdf111a-5cb5-4550-8b43-906df3a8a73c phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3308fa35-c252-4076-8f8e-6878e11e548b phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3f0ae67e-1fea-474d-ad76-648601ed61e1 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34d2b0a7-da69-4da0-9368-59c48cd12303 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7aca8749-4daa-43bb-8f1f-cebf27c6c6c0 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80e5ff7f-5c6a-4572-945d-2fea64d05f0f phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18b6b230-b819-4862-ad52-cb0c2be085df phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:15c1d59f-b412-4dda-873a-eb6bb9e1f0da phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:97790bcb-671e-49f9-b9f5-99445d996e36 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:875dd24d-2982-4edf-acf9-7cf3f4a05711 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae16ae77-9029-4e40-b79e-bb8e4eb27939 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6edd745b-3cf7-40aa-9ce0-8726300c5520 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c7531ddc-ccaa-45a7-9667-ebb393f64822 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0cb21b24-7d32-4e49-b8c1-092aefdb8782 phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c76dbf19-26bc-4797-bbab-d9565b60333f phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:662818a8-2839-48f6-91d1-777bedb2ad65 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dddd2a81-8d52-4462-a729-fb410b4eace1 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ca2229a0-3983-41d3-889d-b602864593ed phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d678af5a-4224-4624-a8ff-5cdc0bae8216 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b1a1ebdf-8e95-4353-b013-f215d2600662 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e5aa45ba-d78e-476e-b253-ace69352a29a phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b62f08eb-ff82-4523-a260-ddf9c8048a1e phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c83ab70-5daa-407d-8d0b-b10307ac24aa phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c09434b9-976a-4a83-8c6a-807a782884e9 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a36abefd-2961-46db-93d5-f95ecefdda4d phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2912d03e-5f10-4c09-ba38-dc2b9ce57d99 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e4bc830c-efff-4b29-9bce-b7b511325171 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0db4dcca-ce11-4442-8a98-01ce8baa6ab2 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:64386c34-a925-4381-8ebb-79498fac7f13 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb3b916d-acb6-403a-ab62-43cf445de0fc phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8630bae3-661c-4b0a-9f74-90afdab4ed38 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f43611e-c507-4a73-84a5-9bb4c966c5c2 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:580368a0-3a58-4979-8009-ed3ce1bac808 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26467b39-31e9-4b4b-ba49-93eb471fabe8 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8490caee-6d85-4f07-bc14-d4908c441668 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b32f9df-aec3-4210-ab61-2e26488f569e phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dbb9b784-7258-4201-859c-8b8502496a33 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:376ce93b-2fe7-4c8d-a47a-15ae4b51bbf4 phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e4cef26e-c8e1-4511-864b-e115224edd8b phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7019dfc1-1019-4991-93bc-9ee0e2822e67 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1d8f1db9-924d-4ae9-9a75-dec3ab4ea813 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84c157e5-57aa-4bb5-a6e6-57b7cab7cf1c phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19faf2db-f42f-4f75-a5b1-99d622076b50 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8332a684-f4eb-4fac-addf-271c7dab0576 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8689ba62-c81a-4514-bbd0-a6954bedfbd9 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b85e093-3f5a-44f2-acca-11913f3ccc86 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd4580c8-5963-4543-b0ec-52dce92187d8 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ce4830eb-a085-45b4-ba94-90e346abdf51 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:341c42ed-8b0b-40fa-a087-2ae440cd1edb phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:863b9d03-86d4-4a9e-8fbe-2f139468731c phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5dce67e4-7fe8-4d49-b1bc-e2a6dcc7d702 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:07a03caf-721e-41f4-8a25-b2e2b80ea48d phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eab41d3d-9de5-42c9-9b80-466aebc9a089 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:21c67ea1-23c6-4e74-9809-c1423b6f7679 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1ca79908-b042-44cf-82f3-143d276bcca8 phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b56d5280-30dd-49fb-9c79-3c308445b3df phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91476b41-62a2-4f70-9f4a-85829f121fa4 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cfb5b71b-abd7-4ab0-85a8-33305a644644 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f2204847-28eb-4d85-a1cf-dade51665a96 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90f2a5e0-4e95-427d-b7f3-1330de05ebdb phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67cab0d5-1603-48d0-a408-3869478de1d1 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:101c40c1-3162-4c44-a734-4dfad51bbc12 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e18efd27-53cb-4b92-b063-f8a21d5da100 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d9c1f24c-e391-46f0-a92e-be5d1cb8b72f phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dbfbcd24-1de8-4cb1-9e42-31a478ad7be2 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:872a12d9-15bb-4f46-b6dd-8b80eaf03b56 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1dd3770a-46db-4c69-9d52-59b96b7f2620 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4fa57a3d-b116-43e4-9ade-4a62c327e072 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4cf44d97-468f-45c2-8c94-f2eb4717ca13 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a2d08a67-3ce1-4ba5-be40-a3be0ebd54cd phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:47525072-91a3-44ea-81e7-6bbb86860015 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:721bf76c-16b8-4a28-9ace-26be60ba0325 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d86dfae1-c258-4d26-9362-c46f6eb0347c phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:965006cf-2460-4494-ab7d-43e9bc55a931 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8ac3001e-43ad-4a29-93e4-2c548d25288d phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18a53e30-231f-4e34-b2af-10320e48ec41 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0bfc8a6c-0be0-42f8-8879-d37f20e6e0a8 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:88456309-c35e-45d4-9109-6b01389d4e99 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7de4819f-cf36-4b61-989a-c969050d70bd phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e3b9531c-c5b2-49fd-92a8-0562ae0a9ec7 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c15d872d-5455-4b20-b0bf-b67608c13cde phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6950ce8-52a1-4372-b012-9dafbffa2be3 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c42b6856-c0bd-4a80-af9f-7b9bc673e1f4 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c743e3b5-fabc-48ba-82c9-6fe88774922c phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e4c3da7-530c-432e-9e4b-b45b5dda4ff0 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:de7d974e-7211-483e-a8e9-df8a0833b416 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8b4670d-d92a-4c14-8003-c701e90b2e2a phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f4703d35-ef64-4926-9af3-7954b891f038 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cfd50262-0f2a-4bbe-a7b5-c27ea53d5ee1 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:40ceabbf-d5cd-4c79-8a31-f1619b9aa926 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9c750bff-8ae2-45a4-bfcd-179a0360aa59 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:10be4c11-d489-45ff-af40-8061504f2914 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a35d146f-0500-41ea-b08f-f6b59ca4ef1d phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43ad64c5-9b97-4ab6-b06a-49aab5783523 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0eed037d-c58f-4e6e-81e7-4c275fb93198 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2503609-6f2d-432a-a730-8ce394c38d69 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11b4cc0e-010e-4728-926b-d778bdca8b74 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eea7b9ce-8fe9-46d5-9344-07e9fba9ba5b phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:14d9c648-084a-4d15-9329-7a0a62b8bafa phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7fcce953-250a-4cf6-a26e-983720fc3d40 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d208a33c-8b9a-435d-9930-cd5053174592 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6a1f2eaa-e698-424a-a373-d16261ce1b06 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1a563af7-b6b5-447a-8e83-eb224f1aefae phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9d42dbdf-6329-4cdd-b774-f93cef6271e8 phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2f1fcab5-10bb-4634-b5e7-0355f2446c5c phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:19fdac41-3889-429f-b7cd-5a246b761a2a phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94b1c83e-e91a-4399-b1da-f861dfbbb33e phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:86ef98fd-5929-4680-94e7-d99b6289d3aa phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:529f798d-20da-463e-a7a8-6b2832dd6f0a phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9250ac4f-f414-41f8-bba3-0d785527f2cb phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c9b10f6f-d575-4b97-8e88-e38016190bbf phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b35cbcbd-929d-42b5-9b9d-2d1b6a2da7aa phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5b29754-4904-4601-89ae-e9b12d906b2b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c04b5ce5-6e55-41af-b716-f5f0064accc9 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:738249f6-3ba7-467c-bac4-91a0830b169c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60926590-0d54-4536-a9ae-aa475fa0d72e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:347970e7-36ff-4382-bd77-9bf19ad86565 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fe4828f-4094-40fc-859a-6900bdd62b03 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:46a92869-2368-4de1-848f-77517e88f3c0 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:240d47b5-8f07-49ff-99a0-7b4e60dad474 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79d85cc3-f90d-45c2-b734-65e13112dc65 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23aeaa56-2f84-4d67-a972-3982e59493ca phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2f655669-a7ee-4e92-a143-2a2c5cc9899d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee6b2f6a-3795-4142-8c86-2e6de248e868 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:859c270a-fc64-4420-b4ff-c6dd35f3bfd2 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9ca5011-21bd-4d8f-a373-14cb2f774e4a phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:963a06e4-e449-4bb5-bf19-59555c0415fb phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a0ddc2bd-c3a0-4f53-a1cb-615f3faf6933 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f845d6f6-1a6e-47c4-9155-7657197f1d8d phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0641b583-22a0-4734-a39a-4a7068c76fee phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:752d0fcf-1acb-4acd-96ce-18d3431a878b phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e530a27d-9be0-4fdc-ab63-0ea168855d1b phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d45b070-ffbf-4d27-87e5-12cde8154ec9 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60240963-246c-4976-b4f7-9c9b43d5c3b6 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed2b1673-5ce1-4f36-93b2-316707e1da88 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7fb10c0d-c43c-4e19-b408-9356c4bd3644 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f869729a-fb14-4469-b6f1-04db666351db phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89be906d-383f-4878-aba8-a6a1a2bb2839 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ca1fc411-b6ac-4a75-9f71-d91358204359 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:009dfdc0-8fe6-43c8-b83a-ce629b6db7e7 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:40327712-c19e-485b-bb1b-b65a0038acb6 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b5df4e4-fc92-4a50-a183-b62bc7430cde phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b6af6d59-3817-4993-8419-f12214b03183 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:946a9b32-84fd-4106-8806-11ddee6dd5fe phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9497caad-a449-4bf4-8bec-dc0baa738f4c phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2432fb9a-5480-401a-9717-f3be3b064dfe phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:179e1b79-bee3-4d8f-9264-c7f3b4e2655f phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c911c5a-35c1-4d13-a6fa-e01859a7425c phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2320276a-80ae-42c5-a64c-dd183aef6d43 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd98ddb0-de3a-4203-ae85-60c334a092d8 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aaaa3f46-984e-41b6-b185-6d14ab04aabe phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:61b677ab-cc62-4f43-94d5-431d8b7adf00 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:42c0f752-6ab1-4c0b-ae87-3fd846dfafa7 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e15aebfd-e637-4779-ac7e-740cb55f1152 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3a42ffb6-a0cc-4fbf-ae53-9e1b9652bf42 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03cf83a2-6850-4ed3-a496-2fc7a8516999 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:51f57b64-0f43-4c00-bbee-0314da285871 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1efed38b-1826-4b69-9113-781882587223 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e30576f4-47c7-4ab8-bcb6-20fecff6de1f phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e13018f-87e5-4f8b-8e51-7e7d518ce53f phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:686d4817-b542-43f8-ba45-63fedd046b12 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bcc1f6e5-00f8-4d35-8e59-d8e5dec8fd34 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e6bca0c-4fc8-4150-90aa-15f0f79e32c8 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6ac01d7c-05c7-4d9f-b28e-dcbd8d789f0e phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f0261e0-9da6-4a6f-9611-0daf2e7f72ef phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a189cdcb-db5a-424a-ae25-70f135d32ed3 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7d297cd-7382-40af-ba38-c011abfb7d11 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:641b1abf-6188-4dfc-b1cd-22e2f4ab1465 phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:df476c6d-d473-4ed9-8532-204f5a1cf0d0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e633a17-4067-47e4-a9b1-e6aa477b9db6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7c075e7-6b0f-40b9-8181-078bed471c8e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:23595501-1f04-4f04-8176-c673dd09cbac phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92f6bce7-277b-4105-9e9d-33df7ff213ce phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7e9fbf7f-12a0-40c7-a7a5-e136c60a3640 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57ce212d-6a96-4548-aa9e-eec2e7e5c25c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ea7e2937-d9b4-47ee-8839-24f56faaf032 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bf5ed26a-9a7e-477b-b4a1-847c9998afa0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:00129e34-93b6-4187-9345-6a1bb08ab697 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aa49332c-1b4d-46dd-a705-a73081db5d7d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:282568a3-79d2-4b99-8248-9463252630c2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:70cd3359-28d5-4a2b-8a96-397846f2cafe phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:698c67c8-25ff-45c9-9939-34492be38af3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a6785ba2-0a3d-4404-a9b1-ae039aff5681 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:88c34b70-6094-449e-934b-8da692047e7d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5683d9a8-021e-4dd8-9ed8-9f15effb1612 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc0ed0d9-e775-42ba-8bcb-d1d51eb0be25 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fe1cc9a4-80a0-49a9-80ee-317882f2c0e6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d9180dfe-528e-4443-bc24-774027d206a0 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:de99712a-2342-4afc-a861-bdfe8badd9b3 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a343fb7-9435-45d5-b4cb-3f08439120b9 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aeb7ddf0-e4ec-4e38-b839-c65bcda85492 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad54e10d-b660-4f42-be22-d990169d6ddb phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9443788b-bab5-4f44-bdcd-2d238d722ddd phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ae8db55-ea60-4268-b991-b960667699b4 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:548e222e-e753-4a03-b1ca-7f349d8d0a33 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:91d84cfc-aa0d-4327-8542-b71ccc557eac phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5913c301-c9d5-45d1-9cd9-a5ecc165949a phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ca6d8f56-8991-4367-8f7e-d1679264c45b phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:075a5e6b-d828-49c9-86e6-aff063cc4f64 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1ec724f0-61a6-4ec9-a390-93251b90b1db phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:50263559-1ae0-4266-8eaa-1bd1be8019b7 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9d6001e4-5421-42a2-829e-c7812008b0a3 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1b5c21d3-488d-4a72-8389-0d2600da9ff4 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4726e55d-fe3e-4ca8-9f96-0da2d7ca126f phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4301d2b-b420-4231-9882-6732247bf999 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f06ffd37-231f-435d-bd48-2b6c5ab45914 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1af7cf11-06c0-4abe-8da2-0f7cc6e95d43 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e50687b4-864e-44bc-98b1-c66216dbb8a4 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3217e0e-87c2-4704-8990-744ccfce9fdd phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba414200-41ef-41a4-b178-cefb9a21977a phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e77cfa2c-ea66-4a5d-af20-802b883fc655 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b7386cd2-1497-4c52-8da7-d1ec097ae55b phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8c8eaf2e-f541-4586-97a0-4120b1a5dc1f phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fa426762-6608-4a3b-89bc-9d8278fb0577 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3dc718c2-9393-4999-aa3f-140c066fd4a1 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a149a952-d4a8-46db-b501-0594b09d622c phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7cd96d94-970f-4317-920c-5f83770cb480 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49719a9c-99fb-4963-93e0-226b78b4acda phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc189336-82b9-482f-a9fc-eaa41ecc6053 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:855347dc-f33a-4804-bdc7-6b6d2960ef37 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2710fa7f-ab9a-47da-95ca-52a12347611a phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:af2ddb05-72fe-4bc2-8d91-97f8951d817a phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8963a49d-f564-43dc-8668-f9aaf7881594 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:13045952-3aa4-4af7-ac03-fb5099f3a043 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34a6fc93-76e9-4cc8-8ea9-f4cf9fcb4543 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:24b36b89-6d69-4d36-bb21-2cb8d8705667 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6819d4b1-182d-469e-babe-ba4a3083c764 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:29d77905-b801-419e-a4cb-3e12ef0ef347 phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:785df65a-c85b-40c2-b602-5b5a7fe8b30e phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b9883093-8dbf-432a-8ff2-0c57e1673776 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b23dcf9b-b2f0-48e2-b70d-9db19cc21409 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:474793fa-30f4-4ca5-b425-adb52042dc95 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0e94efb-e7e8-41ea-8748-d19c46b70f69 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fcbebb7-d8c9-43ae-b5d5-d3f7678066c5 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bfcb5cfe-3dff-4c80-9568-61359791b4a1 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d7489142-0507-47f5-a912-4f5de98cb3fe phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:214fa96a-6beb-4630-a93b-952be4d1540f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cfcb3c7d-3483-431b-82fc-e196686a50a4 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ff7657e0-f086-48ed-906e-1c7d4745f246 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:eea48dba-cb53-418e-bb2d-de555b663559 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fa032047-886f-459f-a7a4-b4a05c0ec93e phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e94fb43a-8df0-4779-a998-4f0c763efa12 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1cd8835c-79f5-461c-b015-136f8676eae6 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78deb022-4c7d-4718-93fc-ae9ffd519ec9 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab7e2dd5-8e78-4eb7-9793-0fa134d5013b phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02874539-f905-4865-b418-d8697eb79a2f phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7cbdfa25-8168-41f7-ba88-a42cf1824e65 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c9d32edd-3129-49e0-b5ca-14670f957549 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8ab8cdc9-37f9-43fd-941b-421361aa97fe phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:65c5049b-f538-409f-bce9-03608b27acac phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2e0e436f-b728-44f7-a3d8-8ce19a9331d5 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:369b4f35-2630-409a-8f04-c075ed10927b phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:33859de5-0f34-4934-94ab-f3e7789b53f3 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00a372d5-fd0b-4398-a793-a9ebd43a2a05 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08b3cdf6-f15e-4221-984d-9fb2fe6ad74b phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a4bd5aa-ab16-477a-a001-c888135eb4a6 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37fd2d7e-3ba3-443c-9dc2-6fdd1bf26a3d phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd03bfd5-298a-40ba-87e1-eb98f0b2ba9c phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67e001ef-a2fb-4328-8254-19b00986d23c phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7e388b6-20d3-4e49-81af-bfa338525f91 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:88e2de4e-cea7-49ea-a7e2-796e128d3d16 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c34a683-8880-456b-8dce-598c198f56e1 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f8b0d85-7008-4834-aa2b-eac5f8d5b865 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:607b58f8-cf04-42d0-a827-26dde227535a phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d14a9787-861c-45ac-9873-e61f6dfda176 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a062ae5-f507-4953-bb4d-a4cf92aa6f68 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:246ec584-93fb-4450-8c92-ca0b77c104f2 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:784c707e-6120-42cf-8b48-62d1e0fa1161 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ec2c628a-3807-419a-bfc8-e37d472e35c6 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b9c9ffd-3a55-4dd4-80cb-86169ce93356 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eed4d83f-3714-4060-a71e-dcc7586dd2b2 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3031ea6f-99ee-452c-a58d-56fe38c5481c phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60cbae5b-2cc1-44e1-8e48-71f725b073ea phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ef8e63ee-8f71-4484-af57-bb076a5ba167 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8bb05ccb-73a3-4cfd-9766-1f47ed109d1c phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc65087b-ef17-4d8c-9d18-bc71dce03684 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b627b6bd-9ea4-4408-9602-c546a2ad7fc8 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6a3f6c2c-f39c-44b7-89a2-db0083a2cf4c phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7cf3ca8f-3bfd-45ed-98c4-631aa7301268 phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a4a14d9c-a758-4cf8-9259-6b266bc99591 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e6e0bdf-7ae9-40ca-8891-5bbddcbfadaa phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f07343f2-e6fb-4722-9097-38f75e95bce9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a5f1d233-3c09-455f-afc0-61a71d4b2634 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:53de2713-607e-4385-9ef7-bfb9b4b6319d phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cadbe49-ddb7-4c9d-b519-0b446496f6b5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:66eb9d8e-0941-4e1c-9b15-7c8622fc58c7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a489c812-26c5-418c-8202-19aa0e7491db phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e1e1af8-d335-41a9-a834-ace09f16627e phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cca9079d-3f69-40d6-abd8-381633eee7bc phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:314e97e5-3e95-4798-8871-203e65580916 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4c7f3265-2a3b-4067-bc67-78de1e185172 phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f5a04cb-c03b-49d3-8919-f2d330e3449d phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ec7dea1-4f0e-4a90-84b0-a1e6254f5a3c phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb184275-b570-47d0-97a7-7fea99c3ad1a phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:37d66393-fc55-4357-a677-e4418c37b73b phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fc475ddf-e22d-4275-ade6-53667f09fa3c phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f60d076-3343-4e27-8caf-ce4f80f52c75 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a11b10d5-21da-45a2-bf99-065efb17aad5 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:345ed202-cbf7-4a76-9eef-461025ecfe59 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:698b350d-d399-4185-878c-05bda5dff986 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3ab9c059-8fe6-413f-a894-b893324b74d0 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d48baaaf-486f-4ebc-959d-15fa0a923e44 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a70b6882-1d7c-4d9f-bbee-d9dedf9c57df phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8b4756f-33ff-4424-a808-6c88db1bac69 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba5dcacd-f775-4061-b3d4-a073a65e0423 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:521893ad-0f43-4846-bb62-f39e0dbcfc29 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f891cdb-0187-4a80-843f-6a38165d47fa phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f7a7c64-7f59-4311-b374-db53bbdeb9a6 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e870d9c-2e8e-44cd-b361-5e9ae8c84eae phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59dd4b51-9e5a-4672-a2ca-870cd61554c5 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7a966f53-f77d-4ea6-be8e-95c530903a8b phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:445418e9-3999-497a-8cb2-f06a11004017 phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:51f5e1a7-cde5-479e-a76a-f445b79d4f9f phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b368a83e-0865-4181-88e1-259badc9ae2d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f3a94203-b1a1-4bb2-9af6-eb839126e772 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c60697a9-9900-4cad-91ec-a6165e4a65b0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20c100cf-536b-4882-bbdb-723f6823ad8c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef1e8c53-9938-4f6b-a3c5-06717b608700 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b826513b-3d3e-4596-a368-e9bc89709d9e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:49e83801-3142-4d85-8c02-fa5f0b1ac778 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:39f17bc0-e39a-45ba-813c-0c04a649ebdc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f1e3be0-d963-435c-84f0-5befb7e77ed7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d39f9013-960f-471d-8a3d-e1370b940c19 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57b6f362-92aa-40f3-a2ae-e2fb443ad344 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:95930633-9231-4f99-a034-3d3ba6c25af2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:05fca803-70d4-47e7-8d20-33c92cc9cce3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59094ebf-185f-4175-a0c7-429bb6591568 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fee46be-3ce2-4ce8-8618-a240e3302d06 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83762a91-0747-4106-bae7-b7e88c48d867 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:922d1ef8-14ff-4299-b1f6-b43d286891cc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:500ad34a-e5cb-47ea-8709-c08af8cbde6a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e1e9fb3-4978-4d83-a616-f27988aa8057 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:20495ca6-8b93-4003-8915-e02b6506bfbb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5688ade4-f96b-49b6-8dfe-d515b67b78cc phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e11f6f7d-6590-490f-93d6-a63c5e2fd429 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2d16b0fa-1978-47fd-aaaf-165f123b5b31 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3cc6d34a-392a-43fb-a068-5b3a4f09842e phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6e9d7d2-6472-41e3-8f07-a35130d330c6 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3e252eaa-c820-48a2-805f-6126d679b143 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:87642e7b-8130-4858-aa53-57d0e0fb57c8 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e9d0c4dd-ea45-43e3-a35e-106c50043504 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76a4fc8a-0b85-4de6-81cc-695755c94310 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5bb00662-7290-49f9-ba82-d8630b7d3bed phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:023c3aab-2766-471e-9ae3-20d28d0a4070 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ddded0a-74fd-48ee-bf5e-a2dadf9e630e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b225a432-f109-4bfe-8235-2a72f0d4cfb0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:922ca4bc-c4a9-43be-b455-4f11f9299b95 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0cfa0a12-d6a0-4fd8-bdfc-ba688b3824e3 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b6efbec3-b1b0-4a31-9687-7241c0591a8b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e743f91c-0142-4c22-81c7-97318abacc5c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40ad435e-c116-4716-9c44-6efad5112a1b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bbba048d-e592-4f2c-8c30-c17f33fb6318 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1228461-f896-426c-a873-1098b3e2cdb0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:227b6bfa-0c07-49be-b3bc-8cf90c5c38f9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b1ec6d76-d596-437e-9d70-812fc9aead5f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62267905-0788-41d5-b5bb-600ab81ede51 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bfbf93bb-1d9d-4689-bdbe-60749c269158 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f70df3b7-6ea5-40fe-a8d2-3159f763bb0c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f6bfd0be-29c8-4a25-8c84-fe982db5279b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:465d2606-a705-4c4c-8eeb-8b7da85ecf5d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2433a2f4-51e5-4118-9e73-674c9ffd139d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9089431f-9367-4cab-a274-1c8120026477 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b634b0a-16ca-47b4-9df8-4d428793480e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a290065-c95b-4ed5-812b-05d6db54bd09 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:81b50436-4459-40e1-ba22-85d406e7d045 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:04e28959-2a96-4793-9a6f-92d4c38958e2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e473f369-9846-4cb5-84d0-26117e5af805 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d05cfa4-b004-4512-bc80-5efb3b10dfad phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cafbeb65-752b-4df6-868c-332c36f3524a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87f8d39a-82dd-417c-986f-976e95c06bae phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eac78e63-dbe7-47e2-9638-82536708e108 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9d4926d-429d-422c-8a88-9be6b3944431 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b0c84bc-7d91-41be-bd66-71776daccc41 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2c9ef964-1203-413a-a0f6-cb566aa03ef9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:00d15ef3-d3f9-4217-bd07-87cee2e1d616 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cd1d1aae-d822-459b-94e6-4ab3fc3883d8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c91cdf2-870b-47a4-a257-55dc7a1d5f4e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6c8d74e-e988-4c3d-82ab-86ab0826ec88 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c88cd80-a16a-44ee-9679-4c27d233dee5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51ec7bc8-1284-4866-aaee-63051a20f8e4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c5062e4f-9c4b-4eb7-b71c-a9cd4dc8652f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57ef0a9a-99e8-48c7-9b28-b1243a17bf10 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87b76e9b-b7c7-49d3-bbc3-b467ff37239f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e492b3d2-2495-42ae-8263-be675b93f2c0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1679019-c4ad-4cbe-9ee4-d9068bf62632 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:295a6067-b78c-4cbd-ac37-287282b5c5df phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8302f056-6f77-4b3a-b631-c88854b3b0c6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb9d5d4d-d64c-47a8-9dbb-6511295ef4fc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:286c88d3-a47d-4014-b8ca-7403163f4c0b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18262e7e-2cb5-4626-bad5-750cc30bf18b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:acbafac5-c97d-49f9-822a-16fe59323576 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c335570d-f61e-40a9-b0ed-9e81cdcc3142 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:27e6e6e9-9173-4cae-96ae-deca4143cad0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f8f8e4ee-16bd-4805-a89d-afbf0809a2d4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d54e0c82-2227-4e6f-9f50-0ce481d743ac phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:beb3b8e5-f091-4d2a-94b2-357c3c836e78 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c7054b6-c766-40d3-a37e-2e593870d526 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57f9a0ba-c4aa-4dc1-b75d-14db9eff7944 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f65863e8-8e4c-4981-831c-6c7fa1da36b2 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40936b4a-fcc6-4eb6-ad20-5f868300b6bc phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e7ecfda-9ebf-443d-ac20-f76fc29f1c21 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad02ad09-30a9-4ba5-a64e-c9951075df95 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:df7dd05c-a041-4432-8997-5a9bc91cd9e4 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62ea0f45-8569-48c4-8072-3830a4eb4470 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40034461-1d6e-4fba-bb28-2dd033c482fa phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:113a3d9c-d0fa-4a10-957d-124ca72dc397 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd6442f2-075b-45a3-9c94-055f1a3b9578 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d3c1310-8432-4ea2-b55f-09ae0a40a7be phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:70301ecd-01bb-4b60-9736-8ad40c583251 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:418aa68d-ffd3-4438-8905-a19871b4a233 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f949c6e3-f8d2-482d-bff5-396ec4b13f98 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f33a9d3-d3f9-46d4-a518-0ae5012dca23 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ae58eb1-aa9a-4c24-81f5-cdded1113a7c phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a05f481-3c77-431a-819a-5233440e5e44 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:eff53f5c-d665-4285-9a24-7964eb6ae18f phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:057f1961-9f61-4903-becf-38a7e45554f6 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e336836e-26e4-4edd-b27e-efc030c70ea5 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:48e9626d-f81b-4879-a9e1-7ed27936cda6 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d06b2b78-ad52-4a44-8527-f2d6351d9c24 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0f65f98-6e98-4367-b396-431bddc81787 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9add428-c682-4f9f-87e6-cf4d1c3dbc26 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:049a290f-f1ea-4669-9a1f-66fc16109851 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:65c2c975-e5d6-4f52-9d13-b03b1b203d8e phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3a9caaa3-53ca-4e04-a37f-843bcfcee966 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:255967be-8527-48f6-a348-519575ccedbd phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9af81dd-9af1-4f87-846f-407673334c5b phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:56782e2f-1b99-462e-9db5-df8b384594f3 phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e3060084-95eb-4bf8-84d9-0df0a451cb3f phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7673dee7-98c9-4c2a-b01b-8737b91f8132 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dadbeaed-43a8-49fd-87a5-5a978b657efd phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:874981e5-93e6-4e13-88ab-9af21069d177 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:689ac68c-073f-4c89-8e93-e76c3c6ecef2 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7c872c81-6956-4d06-a191-71868c302774 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3aead23e-6f12-43e9-a6c2-b0de57e359d3 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43628b1d-4682-4bd4-8612-964e3df67db8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:47aa8303-09f9-4c1a-93c3-042cd3bd3e77 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:247887b7-1f59-4bf9-8ae6-eefa697f0a84 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cb107a01-91e1-4a4d-90af-3f2a5311699f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51fc0eb8-222c-4506-a529-98c525e428d4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62054bd0-50a4-4eb9-9fdd-875b3a472293 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e3055f2-0316-4ce5-abdd-a59da045994a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f0469390-a56f-4c1d-97a1-d36e16e05b0c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f96eedc8-979e-44a6-b490-25137f462f52 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:864ce1ce-90f6-4283-b0f0-1d84f249d6ab phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:28fb39e7-f09a-467d-910e-637b469528f6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a98139f9-386a-4fe9-800c-b5668ae46c71 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:be02abb9-700c-4df7-97bf-8a0f7292e161 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e9419a09-bb85-4767-beca-6536388f894f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2baccd2f-7c13-4e9e-b603-a06f6fa1a675 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c210e7dd-da36-4970-bff2-14f050b732a8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ed08ec5-4afa-4912-a154-0fe891fe0aec phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93d5ab2a-d83d-41c4-8cb7-70d297cbcc16 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba7ef4c1-6c16-4f29-b0f0-fee8b180d789 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7d0b8858-2540-4c50-a524-c783d60b6f58 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47e76a3b-e0f0-4a3e-964d-51dc14668d5e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6144cab7-dc8b-44c5-b0cd-707b484b72e7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ce06926d-4a85-464a-a0f3-afb4ed00a12e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bae9993a-5548-48e7-8230-0f4034130f95 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:11cfeb38-7b8e-41e2-9702-3240b567d6f3 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8cb3e3e3-f262-4d17-8dd3-9a2938db5a6b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e54c0afb-4eb9-42d1-8499-5dab91cf2dc4 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5187a66-b085-4fd1-b354-2c7802fa1430 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fa0a8970-cc52-4399-b366-a3cf68b9a34b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ed765f94-efe0-4008-961c-785030caafa6 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e0f92e74-e1d6-47bb-a9b9-639307e8112b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:188975a8-9a99-4ff7-b5ab-2f3f4b86677d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:355805d7-b893-4308-a8af-3ed34a256ab5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7a4b6113-2e91-4ec8-8c21-84b60a879352 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b09bb8de-80de-4797-ac26-e003a2b34397 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:458aa672-96fa-4917-8945-16686b7c3f36 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:38a18a47-1274-4bf7-b2dc-da36c3138077 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a1a5f10e-b752-4021-ac4e-8aa62e0abd69 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4d1db25a-cb93-4b54-9ba2-6cb541a31ddc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0446bbab-8ca5-444e-80cb-9427e4de7111 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3fed6a96-8358-4e6a-a10d-cebc3716c574 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba658c6f-86e0-459c-ba16-d3f04f97fd9c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fa3db66d-8050-4f49-b441-29e4ed423a92 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:64926694-303a-4a00-9667-cc1eb7657e80 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee69c04f-669c-4c87-9463-b64859eb81c4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e36b24e4-97ee-4ad5-a3ca-8ade5abe4824 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0479f192-8e6c-49b5-9b75-69e301ab04f7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:027d0670-2c4b-4d42-a911-c389155b96da phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:624b3a68-fce8-46cc-859f-261fbd4500bb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4377befe-56d8-4353-98aa-1307e4e066b2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b08c2461-1f90-4b10-89c9-b61e8debb460 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc63411a-b676-4e35-81a8-02102bc1b31a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16fa9770-da46-4fc2-ab65-60f2cc93d8cf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bbe0bb89-737b-485a-aeba-ed9005e21368 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ddcdf94a-e37b-49fa-b777-a31263bf3a5b phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:61060b9a-373a-4dd1-ae85-f9588cbc0b3c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2ac332f1-3ae3-449b-84bf-23ad06942f5c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85cb054f-0620-4db2-88be-3e811daee6b3 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4121641-9d13-44ae-95b5-2608f231121a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b24e4e73-5041-48f7-b63b-93933ced6fa5 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f893f4e5-7228-4ee4-b9d4-4f4315538c6a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2498beb6-8790-4b95-9cec-4f483af075f2 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:301f4cd6-d64c-41c0-8f3a-213137a0fb65 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:720aea5f-8092-4609-9a9b-709f0f4b5485 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91b49add-a1ed-4874-8f1c-3abaa7adb232 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:908f0f36-f8cd-431b-9461-e4a08f45f429 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fae475b4-f33e-45ca-b557-de12618d0a39 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3220ea4c-7508-4fef-bfa6-0e3a9dd987c3 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:13056c86-7b09-4450-8143-7d1bda1ed233 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:39f525d3-7d9f-4824-8982-3d4a4f795ad8 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dc445e69-4bc3-4051-a770-ebcf9efd581e phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc14ecae-ddd9-48ff-9b12-236dd64e4cb9 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7db0460e-0622-4054-9555-43a30ad49d45 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:086a2fb7-1b4f-4260-9f71-252512137df0 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:007458c1-fe1d-41ec-aa06-bf927ac425e0 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b788018-171a-45f7-aa3f-3eff21ce4140 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:83b6369f-8603-47f1-91ea-e26bc3492bcf phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b209efa7-62a5-4ed1-8978-42389d112317 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f99a970c-681e-4228-95c9-3d6a1f337d83 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77b15f8b-5f96-4fd6-9c59-83ed260bdcf3 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e0f556fe-ce73-4fec-b818-a2200088915e phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8e15f4e4-9d90-4ac8-a226-852a0f9c846a phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e786bbc2-3c17-4cb4-bbde-6083dfafef94 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d12a4af-1e0f-43f3-9106-e8fceadf6dfb phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc6f931a-999a-4996-ba51-ef61f4059561 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bba5f5c9-6c05-4811-a7ef-c88f9fffcd7d phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ec259332-b17f-4da7-8f70-e137d8d450f1 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c25a4974-332d-436d-8d9a-86e846192c81 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f973c0b0-a8b8-4069-9687-66bd36d87d46 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f30e2341-44f0-4cf3-82a0-a2308e6731e8 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b4bb1c9-ac6e-46f7-8f35-ee7ed1ecc87a phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6fc93b9-1d02-48b9-82cb-e1dd3b08c35e phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f92dc469-726b-47f2-adf2-837245456ec0 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8bf7767-4da8-41dd-90fb-30dc6da70f37 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00a3ea97-d5c1-425f-af75-5b98f781d4d6 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1262a53e-2063-40e0-b8bc-903b16da45db phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe1917d0-9408-4f80-a425-84edcd0ba621 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3d8cb9be-97d8-4e76-9f1b-0e98914c7b62 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0805f9cc-7781-4c42-8399-fd90f5d0cc0f phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a332a26-ef74-4aea-bcdd-d553746104e2 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd291955-0e6e-436b-8a63-ae8aa531fc1c phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01bd998b-9646-4776-a8de-e19cf56c49ad phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cff03aa9-70c3-41f2-9fdc-6812b162c311 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4aea04e9-76b5-4ff0-88eb-310c605ada47 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ca24e37-0fb1-4621-bca2-8498afb90be1 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:13c45712-8b7f-44c1-aa44-88829660dfba phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3f308e0-ca50-4ffc-a4d1-e161aa52786a phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e3453d8-53db-459d-8fa1-b6fc4856f6bc phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a98f000-ab54-45ee-900e-6c10ce8ad8c5 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c3506fa2-9f1c-44fe-97ae-f73250eb7dc8 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:475b4b5c-6028-4e1b-922b-dd7822eeb316 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:341d2830-3503-4a9f-8623-cacf1e9ddc08 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e764d9b1-49c9-4ccd-9f9c-5476d6887367 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76d104d4-5914-467d-af52-585892b1fafe phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f75cc07d-327f-45c2-a2c0-3269b0a45ae7 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e1204f4c-42b9-4092-b6c4-9cf2234711a7 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1961e2c6-d940-41d3-bd4f-4cf88318786f phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68ba355e-9189-4c01-9a7f-e99f57ebc524 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f143f5bb-8e66-4177-837b-41516c535c7c phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e432312-240e-4052-b731-643af0f6ed7e phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1273b71f-23bf-4742-83d9-b0dbf18d42c5 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43f33571-3db5-44ea-bc01-17eb6a0a4696 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b608e074-dc29-4a49-b5b9-6f8d726dbc03 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:95aa742d-16cb-4aa2-bb4c-faed0148dfca phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:896eac0f-4e75-4a7c-abda-b4ce7ddd69c0 phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:37ef4b7b-06c3-4bf1-b6a7-f4857810f69f phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:814119db-3b04-4656-9ebf-bbea9a818af3 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7ccb009f-227e-4541-8a6f-85b1da5f5812 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26460c6c-db2e-45ff-9f8c-f7db89c39331 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba500bef-1daa-4590-a651-90814a136bad phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9fc100ef-9829-41d3-81b2-ad1d010b3f3c phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9421a6d-3449-45ec-a887-01936f958c48 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6bdca9b5-7f8f-4fff-99c0-2eea656441cc phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d19792d8-1325-4c80-ab30-bae33f711280 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eca002fd-0e63-44bd-9bbf-d01785965fba phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f7186ec-d11c-49f9-9805-28282f52cbe6 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d574c527-21df-4bf2-af00-2afdc34efa9f phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02835191-eea9-4f54-9104-03788ae39037 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f35c19c5-d6a5-47ed-a14b-80f252c9e927 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ccf09fab-ce96-4e12-979e-5a2c48737683 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7507242f-c23a-40d0-acd7-4b964be5f7b4 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f18240f-c236-4ed8-b67c-f8cbf117e809 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b034852d-e59d-44ac-a432-377145c9f108 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:977633d4-f40e-4af0-8ff2-d2253fb2b720 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99b979a5-0e0d-432e-9dbd-3b0b4d6306dd phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2788cef1-e961-41cf-9d88-10a545c8e421 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d577386b-6860-45e1-a8d1-cc0255a00c6c phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a87d68d7-7cbf-4d48-91cb-b59fd278e62d phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6bffb41-cb93-43c7-b7d3-835bc1a62758 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c717fdb-23d8-4686-aa04-52fc4cf6548d phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ea13409c-0b3a-4e5d-8322-b2dc8beda1ca phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1cd10038-96e2-42c0-a812-b3db355f9309 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:426db5e6-4cfd-43a4-904d-da14454852ee phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff14d8b4-b8a6-43ff-b199-bdea5e54ec2e phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ab53ec7b-44b6-4cbf-aa01-73c3283a975c phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2167fa16-58cb-46b3-af3c-5fc0c05a2627 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68e96005-c8ff-4cd8-9c37-d88a83689448 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f17dd177-1b2f-4d82-893e-0a6abef41b61 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43784b25-2ce8-4e7e-91d5-89b9706ee1ad phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f896d900-f4ee-403e-a616-1da248b2a617 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3bee114-d804-48a7-97f5-738cc74dbedd phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1c5f2fa6-84bb-4d99-a0b1-9af2d47d0c1b phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8f083fe0-67e2-4550-8adc-a2f66b2dada2 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b5227b5-0655-4366-9fc9-86aad64ac034 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bb3eb188-35db-4a62-80ed-35586e0eb2f2 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3937d52-4474-4540-b0cd-c3b20900c7f0 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1b5bfbf-f006-4003-975f-f149544778c5 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e89ac90-70d4-42db-a64c-a4af80a4c711 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf2cba1a-edbc-40f6-a77c-ff7c8fa23362 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79436595-1782-41c7-9bac-971cedd32e83 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6770816e-6f79-43ac-b1c0-34adbc29ba8e phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2f52a374-e83b-4c8e-86b1-619eb5cf7bba phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08072b36-07f0-4d90-9f76-6fe02f96ee03 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P19 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8267f452-24b4-45fd-9d74-0e09a6988253 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0100be3e-3ea7-46f3-8a52-df60b2b4c30c phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9a45071c-1492-4305-84ee-149d64537be5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ff579f15-2e06-4c6c-a554-4402311e017b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c645ecb-328b-4f1e-b868-5e390957df89 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:da739938-912a-4a2c-a953-e3ae9382be78 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:71858770-3d8e-4917-a001-64f6b20e5178 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbb84d70-bdb4-4670-8c13-dac79f583e4b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0bddad95-d743-4a5c-9940-0398937af581 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b1be6b0-93e0-45cb-accf-26f5265c51f3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf195f9b-86a0-44fe-99db-ebdba36ed962 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d672140e-36e7-414d-b16a-ee0b62a6cab1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:11569249-b2c1-42c6-9867-fb9d24376a84 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:45de8d8d-c8b7-484a-801f-9d9d3ae7a94b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f65b9329-01d9-4e9c-8599-de332136b432 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:86ac63bd-360c-4a7f-a341-92929842bee9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:56138479-abdc-4858-9455-b17554852b7e phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b552e942-614d-466f-b494-4ed86ca5fd36 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef334689-ce71-447c-844e-0601faf042d7 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:19670616-d0a6-4c62-a90c-9eeef2f76744 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:44f24458-8a44-4373-81d3-9d1e016bf6e1 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f1ee27bc-8c40-4ef3-98be-8dce20372e75 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:528cc616-a5f1-4036-abe4-4b14196f190b phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c4afa7c4-2b18-4f9f-8512-03c3039cf0a8 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:937dfe53-269d-4495-8a29-b9753f135fe4 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00967ea4-628a-4b3e-a592-969207320bb9 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:04e96a8a-d5a5-4b1f-a69b-ae0044e0b9e8 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fbeb1c89-0ada-4c91-843d-af873e543520 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b8c1694e-172b-4214-9d7a-a53dc10624f3 phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7e4c3293-1b23-4e62-bc0d-cfd98c2058e5 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6c826bb1-86b9-4df7-b11d-12e91d139f3d phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a28b5434-985c-4da4-931f-d365eea3acbd phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eb4d99cf-8ae0-478e-a985-d1a74341c752 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6cf2138f-d6dd-49f5-9d64-3e419c1769ee phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:94fe669f-82e2-474b-9f1b-6e1d635d5ace phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:913f560b-c7ee-4284-aa46-478ca5dd1b0f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f218b559-719b-4f85-833d-86b93318fb51 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f8d7362-a85c-4cb4-ac13-01d09d8749d6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a79d2c75-e468-4324-b81a-248cd09eda08 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87ae650d-a736-495d-9b70-168e66eec7a6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e50f7326-0907-4611-94e2-7e9be0b60e50 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:055d8af0-8a88-48b5-bdeb-3a34d1e584d6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:612ad09e-b8e8-45f1-bd99-c66cf1bd1576 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:896827c1-d011-435e-9043-d9dc58539466 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e23f1897-de9e-4bd0-91a9-f4bec54a2e12 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aaaab145-3d00-4a19-a353-ac2f83393f2f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af578e0a-d10b-4893-a724-92c8df004f81 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ddf10a13-2a40-4cb0-aa0a-c6ecbdd625e6 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60c8a32f-388d-4eca-958a-b89651ee6678 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28ab1a85-cdf1-45e9-95af-c5ec7db06b8e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b5c06b0-b749-4ec5-90ae-49a787838130 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fdf9e89a-e156-4e5a-b0b9-54ff57a23baf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32d90e85-26e6-42e1-9615-f0bf2404cf3f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff726a98-3945-4963-8b1b-169703edfa87 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a912c06c-9dd6-4105-a91a-d1dca427f11e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd87c15d-e167-4a7b-a940-2bb2d9e24640 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e87d48c-75ad-4bc8-aa64-b20f4cec004c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:980e64bb-fcd5-4c1e-9037-dbf6e6613eba phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85684f47-8855-40b9-9d3d-54fb257cc48f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e1cae708-44bb-420b-a615-90daef526ba8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cf21f2e5-f9a2-4a4b-aede-52c1a7b99d0c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f14fb69-7212-4b9a-b700-35984c10a5b8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8e6b514-3b50-408d-995f-6b9d692184b2 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ce7c6167-943d-42ce-8c39-6bba896a4b07 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1563b9f5-0699-45de-b534-2beea5fd29bd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ae61350-0ff9-402e-b661-0d536032e4b4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:de32cdd0-72b8-4f46-a823-4b53fcc5d004 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e6060476-1ee7-41e6-9d6b-03185c10da87 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3df4d575-0671-49f9-ae77-696145e12120 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c6ed0ef2-6ff5-4322-bb0f-d9678c26aa2a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f5d7db9b-fb07-45cc-903b-f81691b20292 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d69bfaeb-b302-481f-9359-09a0e17c0b4c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24371555-d970-4dbc-9874-021c95c9717e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:062ed9dd-2083-4493-921e-047e66cbe06b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ac15e5b8-8a0d-4691-a39f-3058f4078f09 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aa6da753-8c54-473e-ba22-8827addcc616 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:396ccdcc-dde0-4325-9a61-e34f7e6472ed phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fd7a61c4-acdc-4588-a3f3-dd3989f24c47 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:105f78b0-c6c2-408e-927f-749ff7e95a70 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee81019e-92f7-4ba3-823e-7d9515f31f76 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ec36bf4-29b8-4a6b-b239-359b884f1d9a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b5141ce0-ad7b-4804-b0cd-81742128eda0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:33980436-54a7-494f-b916-052a82b4c475 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ba39e7aa-6b5e-41ef-b198-9830da12cb11 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e490d08a-9515-4120-b747-29d8fde9b2d1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5dad9172-de80-40f5-9eb0-893630c13f00 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:58636373-d39a-4495-874b-59d1f15bb1a4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8405381c-5495-46c4-9ad7-ee0861169837 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9079a667-8594-4314-ad8e-886390bcbbdc phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:14d02ee6-7ce6-406d-a1ef-ec8939f4f66b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2d92b882-ca63-452f-a3ef-20ba3169d1af phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5c0b0921-9eb9-4295-bd62-9aec28207f32 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fd364a0-115b-4e36-9372-0385e4de850c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4bc0f04f-c0fe-48d2-814b-794f8650a86c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:98edaf30-8db9-4b91-92ca-bc9c79b13259 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8282722-70c3-4b24-9b35-9fc2ffbc7894 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3cf9fd3-5cc6-4da7-b1b3-3acbbecdce2e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e45fa90-8e0c-45fd-9a89-6c779d7d2921 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47412b86-37cd-45b0-bb1e-e294e3d8d5aa phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bbce4014-0c63-41af-8932-b71d2adeb3c0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:75b48245-9b63-4b1e-aef7-212d6ed6a7f8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:82e964ad-66b9-4f09-9200-e17eb95203b5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bdc3a747-4a3f-4cb2-8a80-d2951ba61f96 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:96c21f46-3f8c-49cb-b9a1-f7eb18e97d27 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c687c9e-36c7-443d-bbba-7950403a4bb1 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d814010f-f498-4aa2-8055-68062a1b9d8a phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:08608a4d-cec2-4deb-a6b8-ab9ed2be8c2b phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc68ce85-6c22-4f08-a832-c02329a834e8 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c0c812f-991c-47a0-8007-7362bb8a2a86 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:38e693e8-918f-470f-b7d7-a6bdc8d30532 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc9bb9b3-b423-47d5-b978-410ff6469c4b phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc53a7ac-a256-4f64-9178-ab059fe8a4b8 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79634fdc-7327-414d-93bf-e4275916cb5a phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:09aaedd9-9bba-4ce8-9509-933df0233e45 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ee96be6-21c0-4c04-b5a8-44398e54f64d phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d17f5d64-7bfc-43f6-a029-1ff97b284c60 phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:07afb26a-6fff-4c96-9ab7-153d02fae9ab phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a33f2341-cea6-4998-829b-7c8016247cf7 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:88213390-db2e-4632-9127-3610ba3d4080 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3611cdc6-e4c9-499a-a4e1-9a63b8923976 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:137b9c88-708c-4010-85f2-46f3c73c4267 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:68ceb67c-3180-4458-8575-297cc4933d22 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d60a8820-3e6e-43b2-88e1-446d5c241101 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e4cb6df-f0e1-46fb-bb2d-e552311b9921 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6fbf0e8-131b-4646-9f12-e4bcf0e7d137 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5da0fa84-c6bc-492f-8d3b-dcd98c9aa870 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0c3f39cb-a2fd-442c-b2cf-163cb2276652 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6098cb2c-52ca-431c-bc8d-22a33591c9f8 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f762b752-67c2-4775-8b33-1b56fcf57b5c phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e8e4f7c0-7a77-4ae9-b14b-afe2f5efa993 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:18060fe8-8a97-4758-a41f-adcf5c244101 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:54f28387-1e92-41aa-b588-dedc75cfab15 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b00abcb-7119-4b6f-a087-2324d896cdf4 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8d7b9a6-805d-45e5-be5f-0ee8e7e51f79 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d9bbb44-0de1-4c21-b06d-ff9f012c03c9 phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:64433c38-1f28-4fae-bc4e-ff12e8bec08e phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c6bcaa4f-6014-4db4-993a-afc31f3995ba phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26a77a86-b80f-4b91-8549-621118ebf2cd phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5b76d872-ef7f-462d-9adc-5e53770fa1b8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bec0136e-8b10-4e17-b5dc-c2910b9966b0 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f5c7f46-9453-41f1-b817-667ccfbb5ba9 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c25945e1-8bbf-4743-aa8f-052f314946e1 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bddf14af-2f0e-4677-a724-23b7e98f3b68 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:145bb0e8-c120-4a09-b83e-4e340c3ac7e1 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2f844055-e14d-457d-a821-ed0bba2a3af5 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8d4dd8c8-11c9-443f-9b71-b1014918ac0d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7b51eca9-4a0e-4d9b-8bb2-264824d555ac phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a61df63-0784-48b0-81db-f8bb5043b7d7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d1f25fe-db9b-404c-8502-3849f218271d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1be5382e-4ff1-49d1-bc1e-fb6bf73a7198 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3dffc8ae-2af4-498d-9a8e-d28cb61ae27f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:baa79676-5425-4d5a-90ac-7e67e560e891 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:39bc58ef-76b3-4eab-9967-4e6644e3c078 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ca7c8e84-b998-4f06-b339-b7b27a09092d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cf619e0c-6dd0-4183-b331-e5390cf3f586 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51ebfa52-564c-40d4-8cf5-e752832aa763 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:599206cf-05b6-4dcc-880e-ab85352c05dd phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cfb289ed-c7c4-4a26-ba11-1d0bf9344bd9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:acbaa249-8d56-46cc-b421-0650b1510361 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:11036e0a-a595-4b3f-876b-bec3d0bf3c51 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d0b4ba55-93ea-4524-80d1-66db6eb43b57 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d3d5c141-2f35-4f4e-b896-19b3ef4a7744 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1f28a11a-4dd2-47ce-b209-109730c7bf70 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:586ed346-f793-4f0e-8a17-48c19f4bf23b phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e5231c66-bf03-4fe2-9a91-a33b77f2ddb6 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d6120c32-b2cc-43c9-b659-13c2886a73dd phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:83a5d07d-a44c-42d5-ba56-95102b8950fb phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4168464a-02bd-426e-a69f-ffb0769812ed phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b68dd8f8-d002-4a7a-8c9c-c1f6ddb3d041 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:450228ef-d7c8-455a-9bd7-eecc0d91935e phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:085fcbac-d64c-4963-94ca-4a45ab9c71de phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2802fab8-a1eb-4484-b42f-87799b0cfab3 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b6cb9bd5-dc2a-4841-89a1-9564a9cfa5ee phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dbeec531-52d1-466f-8dbc-43b583e068c0 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5482c1ac-d7f4-4c32-8d18-84437aa80d35 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9437a694-de21-4a56-8ee9-48de7f430ca5 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e56d1bd-2ac9-4d2c-b3fc-33481c4b7cff phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c9989783-6c29-4525-9890-d6a65a1aa2e2 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:564228f7-16e7-403d-aedb-9d7fc197fb1c phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bd531ff3-6be6-475c-a689-de6556d2f5eb phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd7ddd4f-f403-4282-a01e-269a6388a1f9 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eaeed041-841a-493a-912d-4e787a110bbd phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3255be9-e165-44c2-a604-283e495eae1f phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36d1d8b5-82fc-4096-b94c-64568c994e84 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:30e7ce4b-ab31-4481-bf4d-fe596169ebe5 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:202492d4-b68a-4d80-81c0-d8fb6d09dcc2 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a420929a-0f1e-466a-abc4-6c0575060050 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c90a5831-eae0-404a-a4e0-c54c8db2775d phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:66263149-6e94-451d-b39c-b96bcc044fa4 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f3b029e-38c5-4995-b58f-b7e62c8d45d0 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f0b1c95a-2614-4d9b-9781-77916c56870d phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:40328585-75ca-4b81-a59f-4741824fe832 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d7582c9-4c8f-470e-94a7-61a94a28dcca phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fea0f2c7-a76c-4f7b-b9c0-35bd53de8bed phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3c98025-f829-479b-8424-3b9bb8926751 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:02cd1b1d-43ae-481d-9acc-3dbe487729fe phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fa97ae38-9ac0-47b3-88a5-a2afef10bf4a phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85341c46-4dd7-4e56-a9ec-ba3a09117e1c phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6e3b8869-2da0-4b92-85e8-8b12af1eaee0 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:514ef358-6466-44ea-b02b-b8204127a5ec phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:258263a7-acfa-4055-a6b4-fbea1a7f397c phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:076525b5-2768-4d2d-86a0-d25539dc4daf phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:688bba12-b532-4869-8ab6-5142145a4e2e phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c70227a5-8fd2-4d8f-8766-d842bf1357bb phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7bbcd272-4bd5-40b6-84f6-27f06a2e839d phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b3451a05-a21e-4130-8cf9-76d44c6ccff9 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7c5186c0-ef27-4b46-9d8b-e2b212816c07 phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:177a6296-9f40-435a-bda1-7af850f2727c phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fe111b40-f35e-46a3-aac3-ceefe953880c phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d2c260c0-53a7-4fc2-9302-6674e17a4293 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:388a7284-d6df-43d4-aa03-7a632a97479f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3a2a5312-9ecd-4841-b3e4-8f766fcecb6c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e49cdde-0644-49c3-8045-b82571d91924 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a8756e7-a976-4653-a67c-1f063c6251f9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6c77ad70-e96d-478e-b966-64717210dba2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43fff93a-91ff-4fad-bb15-7c6b546d86ed phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc6d6140-7afd-4554-b70f-848a7b33ea9b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b2f0b73-0d3f-45d4-bf94-a930e2f80f24 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d6568fd-5205-4fed-9052-e692776030d2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb2ac404-4f12-4da0-87e6-be24c77af838 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17f5fd82-bf20-4e13-bd92-d921aa55cd7a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48c58468-5397-4444-9542-5d47242d785a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3a74b5bb-b26b-4577-968d-735b15d91b31 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:98a77a4d-8f21-49e8-a221-b8f9945ebdb5 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7ae5648-53d0-45f2-9a42-68e30866ea76 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe4de951-98cc-4762-b4c7-a5e64bfaa988 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4da9b25-a3a8-445b-ad10-da363237a2bc phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8df7683-7164-4ada-a8e8-afe9f769e8b1 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:625645b1-6f93-482b-b20c-ab5d73498abb phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3cb9b5bc-334f-4201-a390-b50bc169d4f6 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:208cdf01-4f40-45cb-955c-75b7fdc3f738 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:242d815e-e85d-4809-bced-9ae852259833 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:61fc2113-237b-4e61-a3a5-50ce99210236 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:044de009-4dba-43cf-b855-c6ad7f2a54b5 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60346d4e-abb4-49fb-8150-2c5a8d5c0041 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7cc3e01c-db63-49ed-ac16-ab7ce9807ac0 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d51e2511-46c9-4ba2-a1c9-78d821dd30c0 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af27ed2f-7280-40b2-aecd-e2a2d3f3a301 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd53420e-391c-408a-9d22-643f9b6afe3f phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba5dabe9-11b0-4028-ae0d-b7b970de0f48 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:429604d3-2c68-40b4-8b62-8b6bc9c040b5 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:db5ee1e4-50f9-4fe5-a9d7-b26374f6a45e phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:97b5786f-5c29-4434-bcf5-158321d6218f phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c10db10-486e-42e5-a759-087c4505fbaf phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c981bad4-8092-4628-968c-d59b8d282a66 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:156aa715-d54e-4dac-86b4-cde6e4cf0b75 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8ac8a99-1872-48ed-a7f6-4f0f77ce9c21 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1921ab9a-d651-42c4-9ea7-9b712097b2d0 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c68faa14-e465-46e2-ad86-4f19f94ce685 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dbaeb292-ceec-41b9-9e5a-0463e3f8f2fd phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f81f1417-bf33-47ad-967d-7a6338bc37b0 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3bc7830-6f06-44eb-9a1e-d33fae4232e3 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee0aa6ab-91e1-4204-84ab-6f5dc3ccd32c phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:758434f6-bee9-46a2-91c7-6c2336840575 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fbff2c6a-1535-4d5a-aacd-befb796a5c11 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8542f347-b323-4b76-8c8a-27d37af3925a phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:faec45ce-0e03-4e5b-8b57-849f9f68edd0 phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e72b4a9e-9b9c-43de-b397-afb1506b4578 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40beeddc-9a0b-4503-b5fa-bdda1e53a8e5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43540df3-c05a-4475-88df-7415846f09b0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1885aff0-5e01-47b6-9cd9-c07af54f006c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a10a2ad-2213-4cec-a7dd-0521da57a676 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:45165b8a-1426-40a3-b084-d286c20abbdf phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9a6280f3-334d-4626-b171-0d7a76ab204f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff36b881-b5d0-424c-877f-5236d23f1f94 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0fa1f943-653a-425c-8c45-94f9506a2aca phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:67d7b484-49ed-43ef-b1da-333a24fca500 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f36d754-d1e2-4ea5-9a7e-25ff791e51d8 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:855b06af-42a6-4f66-aa1b-fc2f5a6a229a phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76ae1791-cd36-42f9-bdf5-f5d03ed2b794 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2b0a0daa-002f-4123-aae7-6ec89b8b28e0 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5191ee98-20da-4ac3-81e9-f6f78e6b5fb6 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fdd3119a-bf40-46d0-a895-84862b7f0161 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae9c2981-c0a4-4c45-8bde-15dd8d430ba4 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:513756c4-1227-47e3-ba8b-1980b75197c2 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01ca2b40-fe0d-4696-b4b1-1c51658f702f phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2e973c7-1388-4ca4-ae82-7531d1454aa8 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4c9e3b2-1cba-43fe-820a-62274a53f2e2 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3c5630e3-a385-4072-bca9-d9bf16299c2d phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:269f89f1-2351-4634-a233-2d7c9845b885 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24bae1b9-4061-4537-9e0e-e3eb78862aa8 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc4678df-a95f-47af-8f89-4b3cf53e6f1f phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d2dbba9-8c1c-4302-9132-37f874867b7a phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b2e9a0fa-38f7-4c00-be30-465a27f1757f phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5ae6caf8-1794-475e-9024-63f3982b4aa9 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:99401536-7a3c-48f6-ba6e-49e251cf5ec0 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b57719b2-f064-4821-86d4-ae882b99dd1f phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5259930e-5754-4002-bfc8-51292f71a284 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:94051190-b211-4a29-962c-f13c21adfddc phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6436d6bf-a026-45a0-bf5a-8b418fca9180 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dcf26447-d0ce-4e3f-a8c6-61e489d143ac phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9c841719-aa67-4581-a785-73511ed132f8 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:50717282-a700-4e87-9e28-658d7a9f7f2e phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4db5abdd-a43e-4281-a961-afc8744ad15e phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cf84edf5-7475-45b6-9501-c1a993151922 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f4214ce1-a8d4-4141-9daf-4814314e1b08 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a74b9d8-7baa-4c91-b4fd-090075f643ed phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:438af87b-02e1-45ef-b118-a8494358c0a9 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3a97977b-ef9d-482e-9365-fcaea920eeb7 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ce76cc5b-f209-46c8-be36-8722cae8ba25 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e9139393-967d-42fe-b378-6c239104cdf3 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:07d9069e-1111-4cfc-b897-6412cf6a28b3 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:49655d42-6426-4a2e-a422-2d6cd1458002 phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:69639c26-6abf-41f8-aa8c-bbb77fcab3e3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a75b83c9-a832-40b4-8ccc-e6f5d9654fe1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3314aa4-17cf-4ca9-83d5-d4df31d88c20 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe04ac67-53fd-4944-a5c0-11f4abd2de24 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:61ac0d37-9f6f-40d1-8ff1-93be29358181 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01285603-4bed-4fa5-93de-b29a4cd89072 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02674f32-9b8d-4ca7-8704-97c22d454410 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:70da6238-4c58-4bf1-9baf-3c8aaad110bb phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01c0e85f-58b5-4d2d-bf46-19b5923bf9fa phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cf00b0d9-0aa3-4592-b811-a043de97aafd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0558fcb9-3522-44c4-adf2-a8ed4d77726f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:522f3ad9-f897-41d3-ae08-bf57c55699a6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72c7157d-b059-47cd-a126-7e21c4c121d4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e523fb76-1a25-4427-898b-3fffd9e847c4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6fb397af-6ed1-4bc0-9d68-e9c250738214 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c6db977a-b1f9-4c46-bb66-8bbf5acb2464 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8c0444c9-31f3-4f1c-9321-5437bd5be2f1 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a2de4ec5-6273-436a-925b-6678c9138c20 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:041d255c-3bfe-400b-b0b5-8c8851fb8092 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf870adc-ee23-459c-b913-f36cc05b7e14 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d485733c-b5c7-415b-852a-a91d1ba6b9f7 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d01c4b76-32f0-4161-a5a9-c9f19527fbe8 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c676bef7-c11b-4683-ba83-00070b7c8810 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02ee54e8-c0f9-4081-b17c-1c6d0f40a269 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93edd9f5-3ea0-44cf-841b-749991b20e2d phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:41dc5b85-29b0-41e1-a992-f4f0f126f296 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b9d8437-facb-47f5-b5d1-299575b0e779 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b9e97a7a-5c15-409b-9d1a-aab4ad79ff2a phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d058c544-ba06-4b58-b3d5-bcd641085470 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b95f3d81-3798-4747-a52e-c839f8326294 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2bce897e-4851-4cc4-b295-9db2b1ef4db0 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c10d1e61-636a-43f6-b842-e14ef6f67751 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:85bbec14-18db-4dc1-bdb2-12c9b1b0c681 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7731139b-fa31-4caa-b129-ff3ec2217025 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e75c1a93-cb36-42f6-9894-6a36efeac5e2 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8f4c8a05-00fa-48e2-b4a8-8800252165dc phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:011551cc-665e-491d-8cad-e38239c6857b phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5cd1bc7c-26b9-4d9e-8f7a-3163ec139700 phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c34da97c-4c77-4c47-9f6e-38ca76bebe2e phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:13b46843-02a0-4de2-b9d6-bd7f6c86bdfc phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76657d44-99fe-44f7-93f2-aebd564ab62f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:736cadcb-3e38-4786-8b18-8f71ae05a21f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8262053a-664c-4cfe-b6f1-66fbfed82ba8 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efae7778-e480-492b-bda3-fc0466a300ad phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e1b6a6f-a856-4aa3-ab2f-497d68bad69a phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1d313d76-8d77-407e-ba7d-5d1f6782e473 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:51c03311-5e84-4710-b68e-7d34718abe9d phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2ad53588-b1a6-4a19-9f31-f8753c6d2230 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:495fbba5-b4ca-4832-9195-278a4546d145 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4aa4b08c-6987-4484-b626-8a04d2615787 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:475a2f64-ed35-40e7-abba-ae3693e9757d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed07842c-3ae7-4f7d-8a60-05ce9afb76ac phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:56e05fd8-f720-47d5-9a98-fa64e3f3ec75 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd6b07fe-b3f6-452f-8159-c0614482774e phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dab90b6a-2ec7-41f4-9e64-9f1cf6e0fbc4 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67181239-2551-41ce-a368-92789e122f02 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7cadac03-9dca-4bc8-8e4d-974fe8ccfe9b phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c563233-6cf9-4b03-a312-97ec715f613d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b1c574c-f2c1-49b3-9f95-05f5d4e142b9 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:811c3124-faf9-4a82-bb3b-5b5856f43494 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d8551df-83d5-44ce-96bb-23994631b7d8 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:13cba14f-3015-4e48-ba24-99f3832614c0 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:99c2810b-308e-4c6a-aa21-018c8700a6c5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f34e486-133a-4717-8ef8-13c86aad09bd phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4c43f4d2-1b28-4e1c-b807-10141a356548 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e39ae1a-53db-48be-8c24-dd9dcabbcd4e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a16f614-b81d-4028-8b7f-bb93e1828a26 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cdef40e8-cf88-429a-9ecc-731d815f9a0e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:50723a44-1fec-44f3-ad17-9696ac06a3ca phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5818496-2fa4-4b4e-bc5f-5152acdb0d98 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84996c8a-0f4e-4aa3-b2bd-f926541cac80 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:87c764ca-3285-4748-b06a-6f276ef15865 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f63ec5bc-2526-4a3f-aec2-bed4094b90e6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:705c68ec-a76a-4907-8d0b-3c39fda55ba4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:705498a0-0277-497d-aa57-52a90ac8eed1 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a71c84bc-3c37-4b34-9ffa-55976317f0ae phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00c60fc6-d888-4e61-9de1-e8dbc797e4d9 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f663fbf8-34c9-48bf-be29-ee3936539e5e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0753fe45-042d-4047-ab0d-3ac211167378 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cd7aa447-8260-4320-9f8b-8a74d5135402 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:07d1da18-4ce8-4f89-8e81-bb01b9d69ad0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:15e54655-5c94-4e86-acda-c0ad6c5a7653 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c040f3ce-3363-4a37-a3c5-b993a1bb95c5 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9e85e31b-391d-46d3-ad5d-6be015f85a3a phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89e1dce4-93a3-447d-b2c6-abf8ba4c9cc1 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:52fc3de4-542a-42cf-a902-ff9a3df7697d phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f8505a9-b751-45a9-88fb-ccc0d78a3a5a phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20f19f9b-9725-4f9d-beef-1293f4c15325 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f3ecdde6-4868-4182-a000-a45ae26f1488 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7ee17c26-ed74-403b-8590-dffff8ba156f phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8d70ec7-2e0e-45fb-b5c2-6dfa36a0ca72 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63821a70-5e1f-4582-bc61-7b82b0cd3735 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:505ad593-888d-4e35-b30d-e646fed71ac2 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4eb4827-4a3f-4784-90c8-650298ba6dac phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d22c099b-4781-4d29-8e1e-4f8881692de7 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dfa5be8f-d541-43d1-ab45-e8ab7a1e672f phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8166e732-ced6-4df1-b5bd-d6e8a08ee8dd phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f06c220-67cb-458f-b121-6c31426e74f4 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0a917158-18e2-4861-8c06-4382f7f9dc0f phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:06a74172-4787-4685-adb7-f79269c00616 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dbcc2de3-f39d-4906-b2d5-b1f0d00fbbce phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a78f9a61-e715-4070-af42-0fe09d7e0966 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:735dd6e0-b17f-45b6-bc91-e4874c506ca5 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d636c7d-7251-4e11-bdb2-b7f76fb15292 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7263bf06-20e9-47e7-8a0a-e89d0df5e126 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cad5b8fe-7401-4947-a535-47feab21e447 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6d77f5d8-1baa-49c2-94bc-e7689f12d346 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:89e0b721-fdc1-4888-b2b2-dc1b31b2c6fc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f17d3f9a-2e9f-47bd-844b-3a22342bc447 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a32e0c7-aafa-4321-9447-24e4d0d21a9d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25897c8e-1429-4905-9dc3-786eb7124b80 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4de4fd4e-32c0-4bcc-a3e1-7ab845c50a9d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0c4d2322-3d6f-4728-a5a1-c6fa6353f477 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f935a9d0-9ed5-4e90-985e-7bbf87c09079 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3abdf04d-a9ac-4ea8-8121-b2c9da902315 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d4a953a1-9477-40af-b7de-3b86791ff57e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:371feb10-3a7a-466e-9064-e6c36ea10767 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01ea6f10-436b-4a9c-b65f-ff0738debb30 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:177692cb-b2a7-4191-b4cf-7250b238472a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cb5355c0-260c-4bb2-ae5a-59e5e9ebdb5b phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ea7128c0-ce05-44a0-8456-876061b51925 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e9200cd-315f-457c-972f-aab3c7954c36 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc52ea97-04b5-4670-a0a9-5b97ee02c70a phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c77bf60f-4891-42e8-addb-5c01f2af0199 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ff9b68b8-6ea7-4f2a-b4bb-f3e3e5dae2bf phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a5122205-1c22-4e49-bfcd-5d53dc6d0f63 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8ba1e475-1e72-4a05-aa09-cf5efca1f384 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2105f58a-6ae3-4286-b4b5-89c2cfd0d270 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab416297-1272-4998-84ea-de23e590d704 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2ba2144e-4b9c-457f-8a14-61dc7b98ea8a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e8125ed3-d8d3-4f37-bc95-58e11497e217 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a58ff422-c678-4fe8-a3a1-f5d71233f669 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18440605-a916-48a1-9826-7928f89a00ee phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d7e13107-d4af-432d-8783-3b698d4cad42 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8f285bb9-4f52-4250-8f6e-be01181766bc phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9197e580-0b32-40c2-8b3b-052e32048ce6 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4384a474-daa3-4ad7-b684-5f7c561e152b phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6da283a5-b695-4eeb-ba3e-1cf501e840b5 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a16bfc3e-ad03-426d-a603-91240f953239 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:489c1e54-4cd3-45c8-bae0-8be59c8d8909 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7a8ef167-4d0a-4c8a-bc96-0dd0ee7ddbcc phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fdb57923-c449-41a0-80a9-3f2a3e4d9648 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:57240c49-b275-41fc-82f3-e5827b1ea696 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2e98cd88-ab5d-4fbe-bc43-53ad25e11fe1 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5aff0c05-6fab-4c2c-92e9-dd174737c0fb phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:baa28dc5-8a4c-4d29-b436-5f510366374a phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:927f453d-6cc8-4895-8c4a-ac7a1cd07119 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:54e96c67-4118-467a-9f1b-16be06cb71e6 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62f5e33e-be8b-417d-908a-e7d80e5a2559 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f7945166-34ad-425b-8fe6-a3e3135d5c4b phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:13646726-0270-4f13-8f92-d788c3553c32 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0c0c4c0-2c9c-43fe-892c-41a8fffd4086 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d70bd41a-b565-4db6-9216-878642a1ae45 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e47ca197-8e37-4522-8688-88b54ca45c51 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:996d4473-7c47-4148-bfc8-e9d955028f3c phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60a295e7-c563-422d-a588-dd216a1ccb72 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4d8c58ff-3e84-44c4-87f4-5db0e42da870 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:224bca5f-871b-4963-9387-bd74975873bb phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0dd34dca-fcba-434c-8468-7363a1186971 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ec2a9a4-38bb-40fc-879c-d58f5b9b496c phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf28c28f-c738-4346-862c-f56e2312f407 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03da9c38-6174-4fa8-8b52-082f519b1f21 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5b832e65-fb92-471e-82e3-43b167c5e0d7 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0651d8c9-a0d7-4d3c-b1b5-56c0d1e076bf phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f361326-61ba-45ef-b8c6-54c11221ee7a phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:43dfda02-29de-48a6-a9e4-b24bc9ff242f phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c59a20b9-e6cd-4d9c-afa8-ee5cce6e9897 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e3a572bd-79a8-4abf-9e4a-5b3566142725 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:51181a32-255a-471d-9cf7-195d857984d5 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ac3f1fd8-41a3-4a04-8127-5033f53b4e50 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:edc1cbc9-34de-4d73-9778-56f9c241672a phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd6e14e1-a03b-44e3-a6c3-affbd52882f8 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c08d7e4c-660c-4987-aa70-dfd1bef24c06 phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1b5877b-01d6-4efa-a671-506eda6113ba phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:25a5afaf-5b99-460e-8122-e25ae1e7dcba phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ba1c3e5b-7ea8-4e33-9694-6561aa540595 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cd5efa1c-54d2-453b-a01e-757543162898 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:07036fb8-9fb8-44c7-805d-65de7722d8c8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3eab13a1-41f7-4c8b-8391-93366b50c659 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0b6e168b-8dc8-4535-9b03-eb46e47c4a87 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ec3c297-fded-4381-b67c-5869617fd9f7 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9370d4c1-883d-4015-9b19-511794ae0a66 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a1dbfdf4-0a92-492a-a0dc-6ce7891a93e0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b3b99fc-fa05-488b-af12-48f483ef741e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18ae4534-3bfb-4201-9066-21f5adc23783 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c71d4c77-9efe-4af9-83ec-c7d1a537dcf2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80008c9d-c5bb-43ea-b5cb-7059d971d184 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dce9159a-1719-450a-b270-7dc89f3ebe48 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ef6e90e3-1d4f-4b88-a5d6-4730fd26450b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80302c73-8034-40a8-81e4-93cccba77087 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:27fe3a87-e2b0-4b98-8227-41b6bc2ed874 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:85df4dd1-1cef-469a-ae0d-dfe56d59d7ab phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a26f453-a352-4fe1-827a-cb5426ece826 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b1dd4a91-4080-46ba-b6c4-1bdab9ddd65a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f6c1224-a44d-44b2-b6b5-a915e30c57cd phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48823f35-96c1-494b-8fca-9ab4328dd05f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e6c3da6-6145-4ff4-9926-02a41dbdadc0 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e3e7aa62-fa5a-49f8-8d8d-49257595dc42 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:084c8e6a-db4b-4e2f-b0ef-8296758226f0 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:638105ae-ca45-45c3-9946-9dc0221b5eb4 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a7b6aa3a-2038-41cf-b9a2-b4ac878518dc phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ed7d3bc8-6fd8-4779-81f4-c6cde6de9030 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ada72856-e7e7-4b87-984a-90548abe3ffc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93df8597-3c9d-4e92-89ac-9647b9d02920 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01953e46-8111-4a89-b280-018296940bf3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7febccd9-79cd-4a68-8cda-96cb116d07f5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b02b79e-996e-4aa2-94c4-793b969e1a20 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3966bf18-e638-4517-b01f-7e1d91de8fff phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7d6abb93-cb15-437f-b79d-9f4f0eb1ff0b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4fb8c28d-3b4d-43ed-b6e3-8e3a472e633b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1b774da2-0a89-43f2-a4c3-f40a9af5c4e7 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d46b207-3b9e-4813-a627-a9f143d91e91 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6df76332-1f59-465c-821b-f190478a4c02 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ca979187-7dd0-4c74-a84d-2e2d158d3edc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:74a2188a-655e-44bf-9143-ba73c80ac479 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d0986fa0-af2c-4603-883c-a07f12a23847 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c83f9d3-7f59-47b4-a1a3-f40098ffa23d phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09641ed4-ee91-4d5c-b7e1-43869086e143 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:559e1bc8-ce3a-4456-9c47-f845241eb613 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd4a96b3-87db-4784-b929-69e2b1c11bda phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:74f69e98-e461-4c77-8f90-f20d31836fbc phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84e7b772-622e-49f9-bcf3-30c347b3484d phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:90ab23e1-7ab5-4e2d-96b9-386212e28758 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4e0a5793-0245-430b-b712-23a6e9299d68 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:859f4fee-be4e-4736-9f88-38cc9a315cf4 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09b4807c-8afb-42df-8d29-70c63860cb69 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1cc1f8de-1992-48f0-9772-b6677911eeac phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5dc9202b-1bb6-453d-9cb8-ecffa7ec4881 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:42eec00f-c375-49d5-9708-713e608e2093 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c17b5574-8f5e-4042-b4fa-bcdb8166f090 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0da93c58-892b-43c8-91d7-0f632aeda75d phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5aae588c-cdb2-449b-b56e-3490949030ba phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89dd3bc7-ec35-43db-9130-1d8463573f83 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ca792ece-50b3-40b4-bf72-934969affc3f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f744ec10-3830-4356-9133-61d349fdad9d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0607d6cb-12f4-45df-87cb-a6413007daea phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:24f1d8bf-fef4-4dd9-8560-9a59a31de633 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f99cc6c3-f1d2-4127-bdd0-c962834a6256 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:330dd668-5e7d-44bb-ba87-a2c3d82e8a35 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:402f4fc8-30c9-40b3-8da9-bdc1266c1a07 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4ff1f5d4-c2f1-4a67-9f2c-9cf581636200 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8d7bf329-9947-456b-b43c-a0a3aa93c8db phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4467408a-8a71-4a96-a9b7-3eb9adb0fa45 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1a4ebadc-f026-43f4-9ca9-4e447ade3e43 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7cecf57a-0a58-4fcd-9b7d-77b98eeca099 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:296ec460-e496-4522-bcab-3d71018afef3 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9f5a393f-4a3a-4f67-a3fb-4471fd125c67 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a0841b34-42d0-46bf-9ed1-5eb6a288c190 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:be14afec-d5d2-44df-8244-fbfd362256fc phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aecae5b9-0a8b-4ce1-bc88-c1a55403a7c5 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:15901349-d4d2-4d05-b19d-9a4641762072 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d1ae17ce-682b-4bdc-9a21-d3de3dd6df64 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e0451ab9-f2ef-4501-8353-ecd9487987fe phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:61ab2a14-2c5e-4d4e-9132-9bad5191851b phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:05a5c98a-1216-4e23-bea7-1ed34c46a51b phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ebbf1072-744f-46ed-a3c3-757b843f687d phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cbdb35f8-ea42-4fbc-9e94-b86605a7b614 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f0c0cb41-2c18-4b8c-9cd8-8ff67bc94ab5 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11269d52-8347-4047-898b-8d54cdd2c132 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5b766ea4-8646-456f-b82b-a2e3ee9ee51e phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:380d7b51-fd3b-4217-9805-22a698bdbc69 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7f63c69c-c802-452d-8b79-7b9945a2bdc1 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:97a0ee3a-06f2-455b-9806-4bf11f3ed32d phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b739b169-83ae-4fd3-9f96-0ca4297dee3a phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ca5e5a87-4fdc-4ba8-ab2a-afaed4495989 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:82789703-e07a-4fa1-b0cc-10a1358721e8 phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cbd8a611-2ff2-44ca-abe9-d0c9a7688c8e phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed85854d-6f07-49c1-8b3f-b94e5c7d8ba5 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6c111b41-2023-4ae1-be3a-3bdcf2815b6b phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dd42a5b8-27ab-4b46-a9b9-cf4615c6e13e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2bd9db6c-0dff-4e46-864a-74df7319e4d1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64496915-23b3-4010-a5ea-3a444e00d8b9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f19420b-7f8c-46ff-b807-cfe221416eb9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d3ce4b74-080c-46f1-a179-6af7327fe93c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e5032340-b5bd-4429-8414-84e193a761f5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:415b4374-4706-4984-9c02-a6c48e537f13 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0809750b-246c-47d8-8c09-f0e8a75fb386 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2f104a59-82d2-4136-9985-4b7b9165c02f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34ccefb3-d02d-4b97-861c-cfdfe850386e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6bf65dbf-4844-4a17-b27e-851eb379ee75 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:006564ab-ac99-4bc9-a1c8-00bb5c6c5d39 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6bd711b9-d7b9-4b28-85f3-347b7b2cf6f2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e1e6a750-e02d-48d6-a85f-f7bcdeba7b93 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26b92f9a-fae9-4b1a-a088-ec4d94c96aad phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4b72e35-763f-48f7-a458-b059fa9dd378 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:39a08fff-ca74-4d84-ac74-0282274aa7a0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3ebeb976-41a1-44f9-a112-9c0584f6a1d9 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9b175ddd-994a-4480-907d-0653e74484dc phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0dfb4f4-1f18-4ab4-ae29-85d9526f48ca phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:960032bc-243b-4a65-a58c-767d911224d4 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c82f3dd7-49e6-48d1-88b7-e136f194862f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7d31c65-ae7a-4aae-a5cd-76f17b7b434d phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8e3dd04c-c433-4950-bacb-472f89c371c5 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4f9feae1-01fa-4ea7-b684-58d69e080c8a phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a8d8b4a-5906-4d89-a7c5-ad1567b98ff8 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d29502a4-a72a-445a-b7bc-af73ee59b2ea phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed33fafe-1c1c-4b7b-85ab-b7628d4200d3 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:70ddcf4e-ff97-4196-bb0a-aa78f71393c0 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b65bf26c-537b-4efd-bbef-15994b542f02 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7cdc6d30-c219-49e6-97df-2892c8292358 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62a92aa7-edd9-4472-8616-fb164eaf9844 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f58eda3b-ce5c-41b6-8ec5-a9b93c092940 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:029c5418-1228-4b24-ad4f-2c1033a892e8 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a46dc431-2520-4780-979f-981929135890 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:403ba19b-f590-4561-9269-79ba92357171 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e37120f9-ed49-4854-ac1d-03169ccd2258 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2aa70547-d6ee-4ced-a24f-20ad94d6dc4f phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bef57ac0-a066-46ce-84c2-9c2cdc08d7d5 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:38cc4580-54ac-4f50-a63b-7f9bf69e6377 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16a76af7-0914-4fe6-b139-ce9424ec1770 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16e1a50f-e258-448a-83b9-4b5921c5ae27 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:91ed7aea-c5ec-44fd-9077-7de8bc0f99d5 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b44ab28e-2486-4c77-a180-abb12ded2e03 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b06c1f7e-1a4f-4bba-be06-bb02dc3b859a phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7e5bfebb-a847-4327-9851-c5338d072919 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a76efd02-789b-4371-81a3-57f0de32793c phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:388d6def-7c35-43a4-b548-e1ff9934b2a6 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bab2b465-2adc-45bb-898a-ee69d8c4d798 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:758d9fd0-aec8-44da-b9d1-e23521a02199 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fad2a37f-0c9e-4062-8783-142cfff92560 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f582cc4-84e8-4b06-bbd7-8387b58d0a56 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:403d7204-7752-43fd-8dad-8b7e0a6fbfa2 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9bde1629-1591-44ad-9283-bd6f9411aed3 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eb7dfa6a-9e2e-4a20-bc09-7734a62f7a1e phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f6e27ba-e1f4-40e9-84ac-9bef72cbb904 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5ad23c5d-92ae-417a-9768-394ee81c86c6 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e19035f6-f4bd-49c0-91cb-c9618e0cb604 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77129b74-cf36-4a72-8e0b-6ea2f99ebb70 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77de9aba-f43c-4d46-9f99-73f829c72f73 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40182ea2-7ba5-4b7f-ba77-3b97443b7626 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7c94cfc-5fe5-4821-a657-82eab2f8a410 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9c60ccd6-0118-4e11-9810-6dbf21424b66 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eca4c713-12bd-47c7-8abb-edb2c6d4ed87 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8837ced8-ff11-47e0-b6f0-e66e1ee84935 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c6cd67c1-c14e-43b7-be81-6564c79259ae phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92146919-04b6-44ef-a45c-211ba2870da9 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4ad9a0ea-9fd5-49c7-b4a6-606452a1bc5a phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae59b1c9-25c4-4d28-a742-772173055d8c phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0374e6d0-e91b-4e49-9341-9b748f1c9166 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:16281a91-47c6-4629-8830-bb046d6c6f5f phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a41fabeb-4e8f-4844-a263-931cd3eebeaa phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:856387c1-b5f8-4e00-a8cc-a6d44ea7f276 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e810faec-7c41-441a-aa3c-f584b79ca81d phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a16cb70-5b35-465b-bae3-81c807d187ae phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c3f3ed62-951b-4841-93dd-4d3cf2019856 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60e37278-a689-4eff-8b88-8114529ef556 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a33aaf1-6c92-4964-902c-115ae95307ba phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff71684d-b7c5-472b-8c69-e5d2b9bfe96e phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:06c6bbd8-020e-42be-b6a1-b25b53914c0f phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e0595848-1b3e-41ac-8c18-12c1d084d6b6 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1a1713b4-00b1-4d4f-bbcf-3d2051ac938c phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01496057-c565-450d-8eb5-0761304d023f phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9ee459a3-80fa-49fa-b82d-ca7e46130e02 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0327189f-a028-4ffd-b265-be3830eafe64 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d936ff69-b863-4980-a5e3-7025b556d2f8 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a2619e94-ec79-416d-813e-24becfa3d8c6 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6a191f9a-3f11-47a9-bd4d-55a66a2fbf51 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a2e2ac3f-06cb-4b08-9781-38b0cc608940 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e70baf92-2f4a-4e4b-8717-83b0ab8dec89 phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fb9d6f66-19fa-4650-b975-001a4cbddcd0 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4af7fb1e-03ea-40dd-ab0e-754611c19e15 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3acc994d-920d-4f37-873f-831ed2a33744 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:88c2cb56-f06f-42cf-a7fe-b49900aa37a3 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af3d7ff3-5994-4927-a71c-fc4d9d83d3bb phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d0ee09ee-e35f-4220-b26e-b42e7d2554fc phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86859c8b-05a9-43cf-b200-24f337589c2d phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:acff5bbf-2e9f-4bbf-886b-c272226b1d20 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f491792-894d-4b51-ae3b-ac9250a90810 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6dcdd9bf-4609-4f1a-96b9-94eed35993bf phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:39aadf84-6328-4433-9469-49bf49945ce7 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:75a9f020-92f7-4bc2-b2a6-76ca80ad69f2 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:53c617aa-92ea-4ce5-b743-78914c0e6555 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:02fef126-a9e7-49a5-b9ca-48edf7200c7a phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d07eed9b-a8fd-4d31-98c9-6ae694ba5431 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eacb44ad-d981-40d1-98f6-a8bd233ec1f7 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:703d9856-18ec-4b66-b3e6-f796aaf5b543 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9b82dd3-d490-41a3-84bd-40f60b1b2f12 phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:18d2de39-96dc-4ac2-8af4-c4cff750b7cd phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:19858d2c-0da3-4e51-a826-0adb9841275c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd650791-5780-4236-8b1d-d0bf9f6c4dfd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f100e30a-d64b-4f34-a348-d4f3262fa504 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6ea7be8c-69ea-4be1-bb8c-28a4116f52a0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1ac2de2a-721e-4fb3-a438-cac91ccf220f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f58f19ff-1d22-4725-ab29-ddb3d58c7a25 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:03e32116-7e4b-47da-9f8d-725334544fa7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:15619a99-4463-4821-a171-92a56ac36c51 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:37c0136a-d513-47fc-af7c-7e0bbc00a352 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9029e306-b731-4892-af18-88d2c764ea11 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c320f165-03ba-4e0f-828b-85a9eecc1c81 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:432b3ac6-5b54-4849-93c5-5383bda1993a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:32f11fe4-9c87-41ea-b499-7130bccd2d45 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9333004b-eb9e-47d1-b89a-5d724b29d60f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0476679f-1d5d-4dd6-9314-c833d1ab1867 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:04291f27-2e71-4bac-9792-9a7f007708f0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:70db890b-6a3e-4ea8-b190-9495f218c37b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7b1ae965-adec-46c2-a458-987834a820e7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc5758d3-783b-4735-aea1-aa60062e566f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b12383f-2e8a-4a0b-86d4-c15d9759c522 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7989b653-81dd-4ded-9652-c33f93ffba0e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:faad6fcc-9db0-4227-8be1-49197d57b9da phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:24128582-3851-40f0-be4e-51b92516552d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a0397feb-6c48-4e63-b1b4-eb2d2c5b64d5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:182756f2-820a-453b-a392-500e37e07317 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:43c6478a-3520-43e5-8445-cde15ee66801 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:715e8c99-c67a-49fa-b7a8-2f71e5c68a97 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cc8acb5f-a675-491e-ba1b-600ca75d29b0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:212a11c4-0218-442d-a3b9-07205d39882f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a22f18d-ceef-45a6-a55e-c4a7a3327b61 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e04e99a7-088b-4d5f-85e8-796bf8b037f1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6dd326a-79a5-498f-b3d3-4b409d58ccc5 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7cbce5e-84ca-4dc3-b9c3-59b6fc12483d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b97a8c26-a1d3-49bb-b811-8a19520e8282 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4d1e809-ac74-483e-9ac6-dbed67160f36 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:25ff2ea4-4d1a-4d32-ada5-ae4ed403d35d phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2bda9732-b99a-46c2-b19e-8f00dda026fb phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd88d642-56b8-4201-bb0e-f2e7639d23e9 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1f05f864-fc81-4046-9906-71ef634d07f4 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0560214d-8253-44a2-88f6-2e3406971968 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11509db7-138f-416f-b72a-d37290aa7390 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0484441a-5ab4-41ff-957d-1a86e3ade411 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e9427431-c900-4444-8e68-c63023956a2c phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5d399698-17fe-4e0d-893e-d9b79b2e8c01 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:146cad58-7514-4b16-a4a0-e9f9f8525a9a phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63786631-28b2-4dfb-8cb4-38d1e480528d phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:349fc4de-0989-47f8-af9f-1ec98c33b3fd phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:27d125c6-c3cc-43a2-b8a5-72122b9d161b phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8ee94d06-629d-4556-9895-3a750b407644 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:26eb484e-02c9-421b-807b-4e67ca22ac0c phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f849979b-5e90-43f8-841c-cde0d35df070 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9dcdc772-9331-43f2-b1d4-ec3e6968ebde phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:53b27011-6cc4-4f68-926a-217a90f86b93 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:229c459f-9699-41c5-aa6b-e0b99143a1ff phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32d1a2b2-e610-4e21-9306-5cc29a2b0ffc phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1baf15bf-ca74-43ee-b2e5-334552f40a07 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5b4352f-723f-4dc2-9caf-f12a61d37e42 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb07b8af-2d7d-4f19-8c08-669fc306bdf1 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1b48260-5474-4966-9a7f-e6591efb518a phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84db817b-3a0b-476c-8311-f14b645bcb42 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f02705e-449b-4d32-a81d-dfd0680332f1 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5c7f0079-d2b5-49e4-bfd0-527925e6b3ef phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:db787fa9-fa96-4316-9df8-5b9e3a4c6971 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:50110437-b5a1-4a76-8cb5-839f5274067c phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a88de03d-640d-4ebb-96ce-168d2ef02d98 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:86f18046-c8e4-4bdd-a8d0-f11d7ec92544 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:563ea523-72b0-4b6d-945e-19adfea7a08f phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:58bf6ba4-7e44-4c4a-ad0c-93014f58d781 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:27af386a-d3a8-472c-999c-b4fa8a960035 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d934ad6c-a8a9-4052-9904-915c00e30bda phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:935f8c79-40a9-4ebd-b067-e6a6e6d5cfca phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd54bba2-7840-4ee1-b1d4-ac9d9a033794 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:311c016c-d07e-432e-a4e6-ed132ecf63a6 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c2d70082-d28c-4587-932d-060b33523e44 phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:ecf02392-569c-445b-9b0b-a87a69292aad phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c17bf586-7579-4881-9398-c997b8293825 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:069f70d0-901b-4278-93df-af59ed803056 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f24ba91-25ff-4adc-b151-7c8fb6f4b822 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a14e19ef-0237-440b-a4fa-169a50014426 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6db80b6-5fc1-4ee6-801b-ced5e29e2d9a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9f8a231-4f9b-470f-8d70-6f9ba5115451 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:46c80bec-2ced-45b5-8e67-acef3d3b6064 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a643efaa-d1b2-4fdb-81e6-5a380a4e6432 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c16cf60-7e7f-49aa-b85a-1d1b1e4237e5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:05683c05-b00d-4509-8b52-6bcd70e1d299 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e8867917-3ca6-4c34-80c4-0704e0637e8c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:003e70b4-fc72-4ca9-ba50-bd8d3fd3bb86 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a0eb06a6-af36-437b-b672-04ce5d160ae2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8fb3cc14-155b-4f05-b3c0-c0f1e7d96bb0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0f37e162-03f4-48b0-add2-a8c48e98f909 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f5858fc-7946-4214-9046-b89279a203d8 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ffa22467-e57c-4567-aff6-084d09e5da6b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ae971789-83f7-4efe-9666-325446cbb41c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a9fd647f-5a40-4848-8860-4fef8731b1eb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fc5ea96-c81f-4a9b-9ccc-0d328e75bcf9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:987c490c-4b95-41dd-abec-810a43339a15 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:abcc4a63-f9d9-4891-b4c3-e1049ac701a1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60385734-4bef-4ff3-b2cb-ef10cdeb8176 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4ff766f6-aace-4dd4-82b1-77ae61c324e9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8f22c7f8-19f7-4317-a4bb-362211771096 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:217de17a-f5ea-4729-acd1-a3d44353834c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7c17f5cb-9fda-4505-8d9b-62f29bbb1692 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:42dc2662-db28-46d7-9c82-29b5af4f4b5b phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ac47275-3ac4-407b-b110-f7569be95361 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2da4c8d5-2411-4d7d-8af6-fca98048a391 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:931f3e95-1687-418d-8e92-3c8efdf3fdf3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3bcac1d-2d61-40b9-b3aa-193238cb6899 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9caad0e8-812a-4a98-af16-f8070262d602 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:693c2173-1795-4f0f-b8d6-86da909920d7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cbff4405-1d8f-4f93-a3ea-32bf840d81c9 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5e8cbb59-1ebc-41fb-b311-95ac75e4499c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9df9277d-bca2-491b-a07f-e30559dbf309 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4ba71582-2c1a-485e-9982-3641f2e63d71 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:08c391df-7d06-4948-81c3-a34ad3b19ee5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0c3f9150-1fbb-485d-9d8b-b4466a65ed12 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:85b1c3a4-8cfa-46db-8712-a58728ece41d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:20c9af03-ead2-41ab-a613-c0fdf5ae8a12 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7954925d-22bf-4c46-aecf-62648f4ea7a9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b94292f3-7da0-45ef-9fc6-d6dce3b7db43 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f20d838-8fcb-408c-8fff-ccd7dc96e96b phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:653bf502-01fe-4840-94a9-475b66f7a059 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2c804e80-da67-446d-8461-9fa8b05f76fd phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:476fb41e-e99e-4cc3-972a-f87bfdf11ded phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e2a098f6-a4c8-4315-aca7-7dd663f79395 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:05960229-f6dd-4b82-8b06-494ab72c6f10 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:70d2c858-d086-4ab6-a859-5f07e8f12fa0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:196273ca-500b-47ba-a1c0-865df8cf5224 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fddca903-4a37-4fc2-9ec9-2d158383d085 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:52ed5af8-6f4f-4d58-9a67-ac1f46559b54 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4025e0ed-b651-4d35-946b-950506a4ae3f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1965023c-5e61-41f7-91a1-ef1cce974868 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e15f133-889e-426a-b54f-efcb3f880e17 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cfb5737f-93d3-4cce-b9a6-c50eac597f82 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dc77c986-4993-4db3-8acc-f5d15b41a67f phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e0dc6359-9885-403f-a1f4-655a1e28f978 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:96306dce-881f-4147-bf83-7d865a841f23 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dfecffff-d12c-49be-9000-e22cea811b68 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e83d0519-2c39-43ee-9cfc-3677f4133f9e phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8667c28f-6de5-4681-af37-7ae2c698cfd4 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e475a9a6-0437-454d-bec2-bf5a5d5abd6d phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b9009f05-de15-4a48-ba8e-d850e3d8f263 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0340f369-32be-4205-97fd-55d7b28febfb phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:42077cf2-2f31-41ce-991b-a4fd761f4c1e phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d37cd364-f173-44cc-9122-10748d790b39 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cea880d8-269a-4909-a81f-2bfd745abe04 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4ed1db44-80c2-4e34-bd91-bb7c4c58f710 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5133bead-2516-4045-bf87-6085e16b2f9d phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f45f120a-05d6-4450-8ea6-81160f1c5e70 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e7b5b8c1-f7cb-414a-9095-d7630eab3d1f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:697e85ca-3e4c-4420-aff6-ef8526db6eb8 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:49e93e27-d4ae-4246-bcac-0c6c00e5e7c8 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4183474f-78f9-433c-b240-22960ec4c620 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54cd2500-f556-4d0b-aec0-c6bc3e46d2b7 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3ddaf047-5f78-4357-b4c4-ad44959bc7a6 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:344819fd-7d95-418d-882a-98f66091a67b phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:530016d9-72ee-411b-a079-76b1b3fc7875 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2eceaa2b-283c-4928-a6b3-46a07c38bc3c phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:892e2ad5-3066-4dc6-ac6a-7903c20a5ece phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3e1e6909-e413-4538-b8d9-eb6e0820fced phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:09271264-88e3-4f5e-aa60-c95d581a4864 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:fe29b9ea-2c1a-4949-984f-1c2da75fd938 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:28d64c4f-a2ed-48be-bfa3-c2b27dfd3d1e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4fa66898-2640-4c6b-a81f-084ec4493f68 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86965103-b47f-4da1-90de-355eb69aea06 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2b358d38-d415-44ee-84a1-1a00cd6f7342 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:46c7e5a0-16f3-4fc3-8f68-94f7a08b99c0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c290bdfd-8643-4d4a-8d26-db15df3b2061 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:46f59fa0-b0d8-43e5-b495-c686950dfd35 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aab4cc20-f6dc-4efd-9f54-c4be71005955 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b319c71-07e1-492d-8aa8-08e8f2101f54 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cf338fa5-ba02-4e59-8fed-11103c656295 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:52a74b77-2e11-4ea2-a6c1-1e58c80be9d1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:de63026b-45c0-45e5-9f58-b41c395298e0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8cf483d8-d942-44a4-bbcd-12c4a44317ae phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:110a12df-03ac-4204-a4a0-459f9e4f11bd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c8c95a54-7322-403b-b1de-3cc02d885ad3 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9888a02e-d642-4734-8480-db1877fb8885 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:428ed4fe-b16b-45b0-9a3d-4abdd9dc8960 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f97b4c16-f4bd-4d71-bfbc-135c26baf0c1 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2dda0052-6751-4d3a-92ae-aed2e47c60ef phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f4d96238-ac4d-437a-8ceb-1183122ebf27 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ad8cfa4c-3598-4d24-9b1f-5b836702fa4d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3dd9ab2e-2251-46a6-bd1a-e8529c40cab4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4512c2c-857a-4955-b7b1-978c5b60aea5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:435553ec-a570-459b-af1e-4df2d16f810c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:133080e5-c2a6-4e08-9886-8a0992ba00f5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ed9eb061-38a8-448f-a41a-a3ba0dd47c18 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3e82f1c5-38b5-4d5b-89ae-c3d4f3ed9c2f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9dd74f7f-b6fb-49a0-8e61-0f699b2a0560 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ccc15b11-f57d-4411-a6ee-c7bd5b2d413c phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:34655a52-c568-40cc-8130-65391466bf87 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8f1bd4e1-35bd-41f6-b344-9247d0331a0f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:325f2bf7-9de6-4273-88a7-d5c8efcd4902 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:efbb4ef0-a14e-4786-b27a-474ed1df6837 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8e31793-ea62-4851-b854-eb01fa63c773 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:482be240-ba9b-435e-a674-3ffa9384c62a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fc3d3d2-3b1d-431a-8303-80facedd14a4 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2274c71b-fe70-422d-8e11-3eb633865703 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8d4cd926-fbe6-45bc-aced-1b0fbec2656b phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9c152e35-8636-44c6-84f7-caea53e4d06e phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:67baa8f8-89b8-4641-acbc-3e88efe6fc84 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f284402-8f77-4aee-bdee-c98acca04a35 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00df9d80-bf56-4df5-a3ff-a6d4695d4b38 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5281a888-b652-4e09-a741-8c30ddf607a0 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9d0b9b4-ff7a-49af-a41b-f2009f6ab3dc phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c9bef22d-e0bf-43ae-ac70-b56b0c78a303 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bba366ea-ae69-40b0-957b-b61acd49762c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:74225229-362e-4b88-a4df-165f8748d1e6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:15abe853-a118-4875-8bd7-df8d343f80b1 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:832f08b6-635a-4cfb-a4e5-3037edfc6c9f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c6665855-054c-468c-870d-62c285301b1e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0000154-8f3a-469c-841f-8671867f85e3 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d7013294-2e1e-43de-ab3d-757e48347e82 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:966db62e-d445-442f-9df9-d4ce3c67202d phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4a6454cc-8b74-494f-87d1-75c6dd94b3dc phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6ec8868c-b9c2-4394-82c3-43319e81e923 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7f2b1579-6f18-4aa6-a9f0-4107e479f85a phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a4247ab0-591f-40f9-8265-d4226ae0c1fa phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c51b6e0f-3356-4c12-a2aa-1118b361a5f1 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:67f271aa-8211-4f80-a8dd-e16e985abcd4 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ec2487e-3b06-4b63-952f-1bf74e2c1a1b phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:40bef814-4489-489b-b3b0-bdc03ff97c66 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c37280e-0333-4543-b9dd-438c703572e9 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2cde66e8-82fd-4653-86d2-cf1cfec9fa57 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87d7dfac-e37c-48dc-88ce-f111088345f3 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3eb9d677-824c-4656-801a-ea1afc435c14 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e12cea15-111f-4f38-ad73-486b5d8cbc6b phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a4ad086d-cf90-4c6a-a656-f83176dfe662 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bcd01b2b-881a-44e6-b954-87459bfa82e7 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:04e6fefe-36dc-48d7-a532-7f2b0b667de1 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9705ad09-dac1-440c-8ef7-98fe20f0c142 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b4ab73b-b2de-4355-aa58-1c95543db858 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff843325-2410-47d6-900f-3367dda7db01 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cc3c0db7-933f-44c2-bbe5-58ea6c9019dc phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8cd61ee-c848-463c-b7f3-b399a098d6c8 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:088542c4-7ec6-4d84-808b-3bc1feb56436 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d741abcc-ab4b-44a6-87a7-872523513182 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8394a1a3-7523-4856-b566-e6f30f30747b phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:62da9e7a-f7ff-4724-ac74-72d1957e3e54 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:99fad3d0-9e27-454c-b342-1e3dba71c6e2 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fa25b950-8d70-4cd7-8fa0-d1885c363620 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b7b8e57a-0cbd-43b5-acbe-a4e31820fc91 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c712fb93-996e-41fc-a8ce-1847a912a5d8 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:936a4a5b-e409-46ec-a399-021dbcf92809 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0cc36ca1-4e43-4a3b-a2f7-60b10ac91699 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1abd6f50-2a00-4aa8-8272-37774ea8f62b phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9a56fe05-ed9f-4d7d-88e9-01f34bed9fba phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:bf95932c-0718-4ecc-960e-38a296c27613 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0542a06a-daed-4b52-b8ea-916f456fe3eb phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63bd7090-3464-4cfc-a031-630b881e07ad phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3de14422-8ad6-43b2-ac1d-6111d332b84f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:16d0af16-bbde-4ed3-99ec-afb21686f50b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fa8e3444-fea1-47fe-b2d6-b565197ce471 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9bd9d7e3-18e1-495b-b254-0a09a216c668 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5e2d0c11-7af3-4502-b589-6a198f2538b8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:36afaa0d-2851-4375-ad6c-6e62507bf4d7 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5f2e133a-b749-4b8d-a4bf-eff3cf6b28b1 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae5384f4-6c61-454b-833b-38dd835cef3b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:231b2a98-4b83-4518-961f-9f9f1f25a941 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fa6603a5-0a41-48ae-8f62-f21561feed15 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32b36773-5768-4cca-bae7-f03d6dbb8f87 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4af234e8-e1ea-4736-9a83-fca876d025d6 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2fde441f-f92c-4094-971d-a10e6187bbd8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4e9c347f-9048-42a7-b7bd-858e2b14d7bc phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9194f60c-c130-43f5-bebb-129c49061089 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e2f49c3c-4cf6-4d09-9e91-0a71f589e358 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0b2e658c-1ad7-477a-89a8-9cb2ffde4080 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6bf23b3f-880e-43ac-aa83-04c03283d2bc phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3eb48601-6336-4d18-8d9a-f64667b31c53 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2deb3466-c4f9-4063-a643-21cdc5b76e99 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:33ab2446-cfac-4c15-b6cd-e6ca391f40c9 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a89c80d6-148e-4d65-a437-59657a6e1d4f phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b49b40ec-33d0-40ab-a565-c61678ef5519 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b151554-66b4-4596-9449-d13299dac455 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:169da91c-9686-4fe9-91ba-e74264b550e5 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b662a61-54e0-4053-8479-ac3892d8e175 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:58bea3a5-04ce-4bb3-a82e-bf595704aca2 phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d52e450d-3f36-472a-9da6-32c3c13ed572 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3938262c-0678-4967-9dab-1b1d612d3033 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bc714f05-355c-4a1d-91ad-2e9e8baaa007 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2532ed60-9e04-4676-aa54-e21f934901bd phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8d79b55c-774a-4bb5-aee2-1ebfe1dc0691 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1da8b277-efb2-4bb1-8ffb-684d170c962a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93d64d47-7425-4bbe-8ca9-ac9122ee3de6 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f4156bcf-ea75-4bd1-b067-170679900391 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9919a2fb-08d3-46c2-bf3a-f433ebde8877 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c436afae-a352-44f1-88fa-3c81ef504c1a phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64be38fb-f83b-443a-99f0-fdd3ea887bef phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d5d0ea2f-4343-40f6-a212-121715c7cbe1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4a5ffc7f-0847-446f-8fec-ac3394c35d4f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0b9b564f-82f6-426a-8083-18138c9ece47 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b8bf5f1-9b2a-4252-8ec5-7d2097ad8688 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:638f95dd-5150-48e9-bb92-0ea74da01832 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9956d28e-e4c9-449e-b18c-7c585d71693f phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fd2c76a-b417-4017-b588-c4578302330e phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4e0115c2-7ac3-495f-9ca3-5eb2d4c27462 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a49a1554-7d99-4890-97d5-358e0a5f85ea phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:48159732-bfc9-46a2-8918-f6da02111ba1 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a50de193-19ec-4a22-8def-844e52d82d4d phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a53a03a6-fcde-4b42-b40a-2c158e5b9a49 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d081c585-76a2-4225-8f93-5d99c7f2bcf0 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efef08c4-374d-49d6-a291-64b5064d9911 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7606bfe-a745-47c2-b184-8be4a3b0b0ee phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d313bbea-84d6-48d6-989d-d1c46cf84949 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6a36278d-7615-4395-adcc-3e95201a35db phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5a472707-4309-48cb-a78c-83c2d41c86dd phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6bfd254e-28c6-4906-873e-7b67ffa5ff95 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:997077ea-851d-4977-85d4-66ea639af89d phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a7603fe3-114d-41f3-83e2-f63523449a65 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:742d5e1f-8ab5-4d0a-ab4b-1e205a5cfc1c phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6631266d-1e4c-4c0a-9a27-afc20743d6e7 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4d12790-5c05-4fda-8c66-ea5ae36c9f2f phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cd37e822-6a66-463a-b36e-3607a12d79b4 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ddd3d3bd-af1b-47e1-bb76-73db1af2f551 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0b39542-90ba-4f3b-9249-86b0d2893dc0 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f6505990-9f5c-4a94-bd29-37e8f273e8ae phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e3761f4f-33f1-45cd-869d-2393479811c4 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f970d3b-4978-4a22-afa9-d7e9232e4711 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9a78210c-584e-4f87-80b9-86b31170e8a5 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5bc19f97-2031-4727-a08e-a24f9fbc469e phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0f0f7bdb-9491-4abb-b14c-9588a5327a9e phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e4d3417-69a5-40bf-a73c-caf2c3da5b73 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:201c1051-c8b1-4e81-af64-88065328ffee phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:631a5a29-c199-4000-bf8c-1aba4dad7165 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4426e7f2-d00c-476b-90ca-08321b6ddd47 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:af29be19-acb1-438a-a51a-990c23c729ae phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e1ce01a-b376-45b3-8f05-22657a9582a2 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:92117ec3-027a-4013-9aca-dc59b1481235 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:208c7ebd-b1aa-4890-be60-484a61304725 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fdf743fb-0c4c-47e0-8d5f-9c6370cf8b14 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26a7927c-c3f9-41d7-9e5c-1b20df0f04ee phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48676226-9231-44c7-84e6-354c47db7139 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:791380e9-636a-4bb4-a3b5-dd0c90f62cdd phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:76603adb-a342-4f1f-8442-6bd730944f90 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4cd4ba4e-570e-4c7f-81f3-4f6f1a8ed2ab phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:09a7e886-7975-40c3-9b29-14fe2b0714dd phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dd080559-d46e-46fc-822b-4870e68af130 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:65ae9d12-b53b-4514-bd83-0f51925f33ce phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4133d083-c8ef-4f61-82ef-a5d1c3749985 phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:24a1991e-f111-4353-92c5-09b75f6d9443 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64a1d0d7-e9fb-4154-a3b1-7adc7e8ce4ee phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3f2e46ab-fc56-439b-9f35-ff2246c21992 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9035f8f0-836f-4af9-8f4e-659ae161b5de phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0e2c1956-ed5b-491d-9c06-e84bb5ac4d92 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b357abfc-cbc9-4c6e-b454-367e826090b6 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a29a551d-ae2a-49f0-a4a3-eaef9d3199b6 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f52f05df-39d1-4c33-a6fd-cde560d836e6 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:682131e5-ab9b-43bd-898c-a6e0e67f269f phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:64e87722-f704-4cfb-b4ec-306635f25043 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0343c8cc-71d7-4399-8736-67e178914732 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd2ea13a-5abb-4cc8-b027-e0eda3709e17 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c26078cc-9cfe-44b0-bb45-b860fc6bae5a phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:53a7f436-cd6b-417a-8583-db922ee5f77f phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f1a4b683-7e10-495e-9e3e-0899565099b7 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6113219c-ec95-4326-9c82-91516f59839d phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:20295e52-6f62-470b-ada9-d969348f45fd phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:25b5e0f0-9032-4f41-bcad-3668499dac77 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18b9a95c-3fec-4f1b-a8e7-dd9ae38c9f34 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:813aa374-3d42-4859-a99c-29046fbfe5f9 phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d1f4c8cd-f6b6-4971-a2eb-1ce9187a65fd phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a25641c-2411-451f-bb8e-a8d30b3834c6 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:afe1973d-e5e6-40d0-9be3-1f3d8a84eff2 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d42ebcff-3da7-4ea2-9af1-53ed493e9c41 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0dd539c3-c339-470c-8e52-3a6beec7335a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e34b6cf-46c6-4011-bda6-489981fac546 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1b5ca07-2b17-4f60-9e07-5f75f7be420c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:50bd552a-79eb-4c62-bff6-314b8c409f7f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:73d44536-283d-4279-a4a7-bc25a94c59d2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:419534fb-2156-4174-8a63-6784a530ebd4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cdd70c79-189d-4237-a9c7-61978c2d0f58 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0d9d1f5-208d-4e3e-8a78-0e11204b670f phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9ff77519-b55f-4175-8420-54d6af63c7fc phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:01742603-593e-4350-8e10-a8dd7e20baef phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4cb5e5e4-0e88-4096-807e-286232f621ce phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad68ec6b-39e6-4423-bb3c-7c3d13950051 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ed7fd27a-6949-4de9-97eb-6423f615d4d8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d8090b29-eeac-46df-8b86-7687e5e349f8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:abaed438-f793-4cff-97cc-8dd9de1cf4be phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f93a299c-f76b-49d8-85ce-43562d77b523 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b8a7022e-160b-4073-bac9-7a0cb75f1871 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d7c0280e-d0aa-4cae-b8f9-b2643bbfe830 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:acab5b7c-2cb1-4caf-9a1f-2c751fc77dd2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99724f0c-694c-4922-bc6d-ca904167d273 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4ea863da-f08b-4626-b542-45365fe65d37 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:90dba98d-5c8e-4a92-9130-8e4d3613bf04 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7b9102d9-b5da-41b7-ba1e-946872497e0d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e2d2575c-006c-40e5-9301-7f3dc51c0029 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:66350a4b-9a0c-4fd4-bac0-38c002710441 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:054b23fa-8074-4ef6-8168-9d43d67b04dc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:821217b7-b9db-4f8d-8c55-bdfc3e065305 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2ea9ca44-dc5b-456d-bcf5-8c4086be3a82 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:71abadd6-595a-45ce-ae39-54d0c7d95d0b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d2f2269f-7709-48ac-b346-22033722324f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:07bfacc9-827d-4d06-8e57-8fb1fec87de6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1abdb185-bda6-42f2-a3ca-eaf890ae0164 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e083c130-9b72-40b7-b5db-2dfabc8994c5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9658757d-b460-47e7-91c5-6d503b46740c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:771a4933-3c60-4159-ba5d-de4033459807 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac30724f-0beb-4f96-892a-845ef97dea08 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:adbdc865-583b-4c52-a61c-3eff5a25a3f1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:97eaf45e-857f-48d7-bb58-b57008a19ada phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f55a1cda-67f3-4a46-8591-3daa521bf847 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:54fbbcdb-0ec3-4cea-b969-72cba7ee83a5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba3646c0-cf47-4201-96f4-b5da0454d54d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d23f7f4a-2f0f-41dd-9629-bc248060d705 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:93e78313-825a-41ba-b4f7-e552aa596eaa phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6974370-e897-4473-a669-463b5fa6e46a phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3317afa7-f456-44b2-b2f3-58612933b132 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e75327f-5346-455b-8da1-ebe0a0cb31e1 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84cca435-bdc3-484d-9cfb-43a3bfac4c80 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1302fdc0-28a7-4a08-b38f-68beaf24297c phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2740719c-7cc6-44f9-830c-440e8b2fcbf9 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:540c625a-18a5-4257-b5fa-b668e03c4575 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:a856b86b-9f7d-413b-9e43-29e306df0e3f phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:86a24dd3-b208-49ac-88a2-474f42f6de5f phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4e351864-b2d9-4370-9084-1efda40cb432 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ceee2d56-ee58-4bcd-a26b-3d2abaab7667 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9967d462-c1f9-4ec9-9405-8b79abbb6e45 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fa69779-01ca-43eb-9087-22e362379c79 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:19879fe9-a931-4f1f-b4a5-72e40a9eb391 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:c426bb56-d35b-4cb4-b32f-0ffadb153901 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:156ca2fe-707d-4f21-ae07-d864de2435d0 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:993cfc1a-5513-44ff-9280-cf3d493f303e phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6991f05-ead7-454f-b690-6d4e0cb026f6 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b376a8c-e263-49e1-a4d8-d8a53d2e1abe phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:34a486e2-42ae-4b6d-8471-ab0f56c89522 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b631172-8ab8-4deb-b95d-739c5af0fc45 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:162561aa-353a-44b7-bfdd-dd60d3cb09eb phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c71399ff-94ff-4f26-8efe-b3dbc1d79d72 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0b062fea-a2a5-42d5-af9c-f3ea01be80e8 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:732ef61d-3cb4-405a-8fd1-be96a555f7ff phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2ce0bc82-6b6f-483b-93d4-44b3c71dcb88 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1c4e4504-aba0-4c8c-90ba-5f93185327be phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5652302a-c495-4962-b695-5efca19287a4 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e9eb45e-ff0e-49dc-a827-b2fa8bd93934 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5fbdde75-2d56-47ac-8a65-85c2a746afeb phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:83d02e97-96bd-4d4a-89fb-209269d3c9aa phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:770da55c-29fa-4fe0-b041-be9642a0e135 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:13a38528-ffda-48c7-9c96-5de5c961ee51 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8c39bf9a-1f89-4181-8352-8c220a97dabc phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8725932c-5722-4552-9b1e-c7e246c479f2 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d5e1d83-cc88-4c66-91ed-0f0e063e3314 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9ffc7cb2-9b7b-4cdc-be7d-d41051f12a3f phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:baad842e-74cb-4747-bc18-9a9b8bb0d784 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2660e5bd-6bd8-4c44-bb7c-8b3c7ae7e7b3 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:03bef7d7-1db9-4ff7-bf3d-e28086a7f580 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9f62edb-f8c2-4cec-a316-c37e1653fa2b phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59fe34d8-c8f7-4926-a918-5fe20d7a54a0 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2066c913-de66-4672-9141-3d9b8c4365ab phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:169496b3-8fdb-4406-bf9a-ae02bd8b46ff phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e3b73955-5319-4a1a-aca0-52dae3a4dbd8 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c28d3b43-4528-426c-8083-295668142c80 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84de7362-8fdc-4f78-b594-9f4f0af70e33 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:506c0b42-5408-44c5-95f4-91f8fcb7d632 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f5520cb6-ff44-430e-9095-014208f9050f phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ab9c5639-9449-4eda-81fb-0eab4a66699c phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:36dc8750-0c96-4715-90bb-df4005db8fef phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0b5983b0-76d1-4318-b25d-103590078d58 phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0078b175-39e4-44ea-99a4-e0af14b61979 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fc2070db-68f0-477a-838d-039223e99c49 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e2cb4e2e-fbf0-4060-872b-7d0969b2f657 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d2ef92d7-17f0-4d72-bae4-578593c101be phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:34dc2046-0636-42ff-bd99-8fd69689cd58 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:74fa2af7-22cb-44ee-a090-c7991da0d5a6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bba49a21-1822-4aab-8231-145bfbdc19ba phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:94bdada9-16d6-4e09-b0b4-a48c386a411e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ddd5a997-9725-4dab-af61-9724d8acfac1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e055f2e4-2d31-4274-9b32-169b1a471dd6 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17cf8035-06d2-4a71-8b58-8eef4cb98acc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d3ebddb1-025a-44c3-a86e-8a4f55409c5c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0bbdb54a-6ca0-4d7c-a5cf-1ec5c6d70254 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ccf52843-822e-4ab6-833c-c89492dc4ee3 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:afbe3084-fcba-46a1-9d2c-ee7988f46ab7 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86d89fd6-7eb7-463a-9326-7626b7e3355d phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8615e240-e5ff-47f4-aadf-269221ef2a71 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22fb52f4-9378-4568-a996-afe6a1c723a8 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a195f60d-b015-45a7-9280-bfdf89dced31 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d118a116-63f0-4788-8ee4-3229b1211f97 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b5d243df-e8ea-4b10-82b5-132d40894e8b phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:85fdb96f-fd0f-405c-9c20-6a8994d66055 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:03b72233-36cd-43dc-9cef-84dbe0cf562a phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0b94dd1f-3ec3-40b7-a2d4-9094eef573a5 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:966efff0-0558-484b-a670-af863a40a03d phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:81a2cbc9-b0ae-4323-a2d0-07f0284eb6a6 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2a237e1a-d563-48e6-9e92-e14067d144a4 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0886db3c-7253-4eec-b516-dc32ae9dc85b phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a0d8c7a4-ef51-44ff-a19c-638de240b027 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f27ab44-8798-4179-bcfc-3a1f4b0b69a2 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7f477ff7-ab50-4094-bad8-55c612d8b121 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6fa8e36a-6950-4843-96bc-9c1d5be89f48 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a730171c-e134-42f3-8ed4-ac41f7424a66 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4448811-6a05-46e7-836b-e2c4606d990a phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d645bf1b-354e-4e01-8eaa-9ab87f29d3fe phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5d038a63-faa0-4dfc-a812-c46031bfe3b9 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1dbe917c-b45b-4cc2-a20c-96555284375f phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:86137f92-7486-4785-ad84-b6aadf13834b phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b2c74681-dfb8-4e54-8900-318237414036 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:449ecde9-81c7-476e-819a-846173520c36 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1efadb89-a8f3-4076-8e7a-7f488b3903b7 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:23be0ac8-9258-42be-b5fd-85d3f0ec6d43 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ae295fbb-bcd4-4dcc-b6c2-ef42fc32f726 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fe61fc96-5b4f-476f-b12f-709854ce38a4 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f47551b-1ec4-4e84-a6f4-af096ac79194 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e16b46fe-5bf3-45e2-bcf9-f6258223842e phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:20caf9bd-856e-4ebb-befa-8a5ac850f98f phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a943bc6c-36d0-4f87-8024-0191a0b34988 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7a8674ac-ec29-47c0-9eab-054e265186e1 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9aa06297-e3f2-46b1-aae9-363ee7ba6aa0 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2d2d04cc-44f5-4e0e-bbd4-bc00770bfa70 phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:1ed42cf3-aae1-4af2-af0e-246c53e8fcd0 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8d2a635d-de12-4454-8530-c561a5313655 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:58815c84-ea70-439e-b5b6-5ccf5bda967a phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c39e1265-425d-44e0-af67-6c98536a649b phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:09e6f4b0-e72a-4eb5-a6e2-6e8112a1c1da phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a6cbbd0e-b49b-42ae-86b6-c60a3b91cf42 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89aaf3e2-2ad4-49fb-a404-b4f57f96c4fe phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f3a093f4-0fd6-4a69-bc13-6f3548b581a7 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac7d2df6-60e7-4606-a634-3cd4506f978d phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e0e7e74c-2470-41dc-888d-78665a499108 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8b39512-ba50-4637-b449-d7a0cf1310dc phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47d98786-38b4-467f-9986-a501ca4ebe2a phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6fe434b6-5171-4b67-b982-9e247a897efa phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d8a6b126-a464-4b2b-917d-ee756cff181b phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ff34c82-1849-46e3-908f-e48404fb9ef9 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e5ca59d1-cff4-47c7-8d5f-325d4fffaeab phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:173ce932-62f4-4176-8e08-7158166b3cc7 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3bdfb2e6-0e02-4066-aad8-d6303fb3265c phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fce9502f-eaf4-4bab-9394-16471eae9268 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a279db42-d43a-4e38-b9af-969b69817982 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0d5e8e4d-db65-4e7d-872f-aef0e193fb39 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c23e888c-5776-41be-b99c-bcdc06fe1b96 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6c29a5d2-e48a-4bd0-ad25-ba30a5e1512f phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d378d460-3bb2-48cd-9244-8931d09f1247 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:00d0c9a4-54fb-4a02-908a-22d95067b55b phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:98a7cd81-5b1b-4e73-807a-7e66bb0edbea phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:884c304f-9cf1-40da-822a-bdc03bb62d0a phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1c301720-542e-4dcc-92ee-d00c094e3301 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba82e320-13a4-48b9-b200-05eacd65544e phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:86df6f1f-6d8f-4ec7-a117-2116645667fa phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3219cf2b-955b-4bfd-97b9-cc759ab5a5b4 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d31d5a5c-aae1-419e-90b9-e4364c004026 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3b88af9b-24fc-4503-8519-a362977c7c43 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e21d6af-957e-4673-8d29-23057e41c186 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:563f3e32-2a80-4688-9e22-377dc8840bf2 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fd3f9f51-b7a7-4751-8abe-defb09fd7085 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:11f77c8b-81f2-4f6f-be2a-66ec9e4e4439 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:77dd7afd-bdc4-4b56-889c-5a6235f29540 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eacdae80-44fa-4544-9457-cee851f5745d phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f036376-1e65-4cfa-897d-af48382f5b89 phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b57e9ce7-a882-402f-b16b-e640b4e8262e phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:706fa26c-21df-4223-bdb6-4ce7ccc9c61b phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d0ff2e15-c70e-4a55-ada0-2f277d7b6310 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7bd21596-ac58-4a23-8b17-b590370a6cdc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4f2ecfd4-2328-4030-ba00-0c3b627c6a57 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60e4569b-83ed-4338-aedc-59c6ee504e8c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9429b5e1-9f0d-4ac9-90e9-5d033e1b3225 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:81174be3-0728-4606-b193-5e467400ed37 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9b2d6a50-445c-497a-8209-525f33537517 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eaec5dd9-747f-481e-87d2-5ef94025d044 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2ffc6ddc-8bb5-41b8-ad82-73378d9512a3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e7744571-0d30-4aa3-a6e8-fada95d8c377 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efa36bb0-8a1b-480a-869a-5e1619f8ec60 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cfd04fa5-c642-4e6d-9bba-0c53392e66db phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e7252ddc-f25a-4a84-872b-5cee02f7fbc0 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7583609d-abea-427c-a7a1-d2b77f054be1 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d47c35f4-aa39-4ae0-b4b3-f5b96cae757a phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd8cbdab-3e97-4abe-9249-6089625aea8e phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3412a31a-0877-4375-b143-c67482a69fc9 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77405ba5-b197-4b32-bd01-80dd1b4b1f92 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fd6ee733-22c4-4014-857a-7a8499765ccf phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:04fd2b22-ed89-4718-8862-2e4b9ab2363b phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:62ea0ca0-b541-4fe8-8b2e-b7e01f0575e0 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ec8e1ba5-952d-4f1f-99ec-bbdfade9e39d phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4dd706f-1250-4793-9b8c-6dae838641ca phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:070da3cb-6547-4c36-ad83-8a0227ba2864 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f26bc6e-caa2-4551-a014-17f30c2f397a phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:babd3ef4-04c6-4f27-b7a7-6d67734a4175 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad3c7535-86ac-4789-942d-8e1c574a8db3 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f25d73ea-7bec-4799-a2a2-9f65a18db7c1 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:1e6bda2b-63e4-4976-8c59-33130a5350cd phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cf52fe3-0c1f-43fd-8a74-9bc8e721838d phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:929953dc-7a0a-42ba-82a8-57b02448b009 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ea2cf66c-9746-444a-a7e5-2546e28ea84f phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1270a262-8f6b-4003-b5ec-ab45308efdc0 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cef5fc5b-c388-40b2-a8ef-d24725a3e8d5 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:54185094-9f65-4e54-9d51-c90e31ca7ccd phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3dc2bb09-2979-495b-9983-a18883ea5e2c phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:73c9a7bb-a8f7-47f1-a74b-0dbd6fa12824 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:99cc9304-6094-4944-913c-a8b7ce51e812 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:37b57146-4c95-47f0-a9db-277f76a98755 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4799364a-560e-41c6-a081-1256832fa5a6 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:305dd60d-ddce-4bcc-aa9d-9f6ee33a2d56 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5234693e-9178-438a-98eb-11dc6a4321d6 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c87d1c5-1a58-4546-939a-bcba4e224098 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a9f13746-9c54-407f-bdb5-b51eba6d1717 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a0a77fe8-971b-4f0a-a04f-5f9c3bc2526a phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1522dd68-faa9-40c1-8e24-b9afb495e3c4 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b1c069c4-5429-4832-82ae-529bca436e80 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:692c9578-e0ad-466a-8f72-c249d6897f2e phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0bcc8cd6-be13-431a-a5d5-21af65431022 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6987a185-6236-4b14-9db7-afa76e8fe8c8 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8883c88a-9b72-4ac3-b98b-56bb8902fc2a phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ee52fd25-87c6-4815-9974-621a215f739f phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ff21cbd4-6e4b-4b89-872f-a8ac8666d94e phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:abac97e6-92e0-45dd-8ebc-f43da2cce315 phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:7f40144c-f0c7-46ac-9823-42fe9c0ebd0b phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f41a3ac4-ec61-4c4f-a881-466c1b3fec90 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7695997b-caee-4521-9439-a2cac5f3238f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e3938c20-07a1-4d39-a446-287ac00a288a phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8881c413-27b4-4709-acdd-e5b066d2ef63 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a8aff8ee-908b-4c18-a2d0-325b02b60854 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a423ab94-4cb6-42e8-8152-5b28b40c9377 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:faf6b551-719a-4bdf-b3d1-ad810a9f0ef9 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:25ebf728-102b-4649-87a1-a10756e94fdf phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9e33d98c-6c92-4312-8c9f-98ddca5019f7 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:626f51a7-c9fb-4b61-9316-2f035842536f phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cbb00e95-a8b8-44be-aaa4-8c5100a9e6b4 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ecd0af81-a7ca-45fe-a84c-8db2df2a8389 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a313b6fd-ba1a-43f1-8f25-d188f7083aac phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:52223bc5-410c-4341-88f0-3512dccfaab2 phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:345fa1a7-9bdc-45e3-9de4-394cea3fdc48 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:581622e8-53e5-4070-98d4-b209d5c34945 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f8627e0f-1c27-4076-9a71-b0b9ba8feb6f phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:103d7c04-46c7-4371-a1b5-2884f4f66862 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:63b45623-f633-431a-9096-2993aa64b663 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd4dbccb-2c74-45fe-afab-9419f8990c66 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3925bac-ec6f-410e-98b7-1742aad9149f phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:71302ba6-4501-408b-a7ad-7ee1659b6b75 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d1dd69af-39ef-437c-b5df-0bc050bb9ca4 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5916c0c3-1bcf-43c0-ae73-6ab5b8610a1f phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ef157c78-c94d-4bd9-b671-c9903ae39802 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f9f440dc-32d6-46b7-9b45-34503c3fe6cc phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c3fb1d0b-f980-4c86-890f-620b02b96f26 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3e916251-e590-4c09-9620-d3277a56b53b phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b3982e32-6b8c-4686-ad89-c4266a1ca3f4 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:afb2cba9-4c22-4f37-b554-2adad93a3241 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d1244bc1-a1b1-4ad4-970d-fd72f30facab phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:080fc9bd-1a88-4ba8-9197-31095d2fbd6e phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:99c8531a-d996-478c-b8fb-f308e2ba66a9 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9e922422-7828-4b52-b0a0-1c58430519ee phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2a757c8b-0d0e-49ec-ab38-a6b1a9fb5a9b phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2699fbb0-7fb2-4bfc-836e-e35d6cdbc85a phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d357c5da-fbd9-4d76-b04b-92e7540ad09e phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:19b2c7c9-913c-4c40-911f-e2c0f6ff51dc phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:efcb071f-7276-4e19-8be2-b7dc356fc2f8 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8405c8fd-beb7-427d-a9d5-20bbab14d49e phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1387c26-432f-469f-85be-a360aee4084c phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:92fbfc07-0744-41fd-8246-3c6171c9622e phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d68c9cec-0d5a-43a2-ac02-573c35c70d3c phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f0057673-98a9-4ec7-b684-e2bf6959127e phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f7116a39-b04a-4766-a0b6-44f5522bc0f3 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:69d8066f-d878-470c-9705-abcdc39f5e4f phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5334dbc2-cf7e-476f-8987-02100105d1aa phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:948b4657-903c-4b82-8ffa-49e849488952 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0ee4bbfb-5ff4-49d8-8d5c-20194cbe8d81 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49272b2d-3654-4c66-88e8-868b5cea0e79 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:965b232f-0ed2-4873-aee2-609e3b5330c3 phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:472d2d2b-61e2-48a1-a04b-e8eca5062826 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76ee6f94-4541-46ff-9e8d-b5e06d89cc1a phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:46966981-7b6a-446a-9844-621242223aef phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fff0f40-77f7-4f17-aa0c-77356852bd03 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7ed63ca0-7634-4945-a42c-8402143ac08e phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:363ae1b8-b84b-4d3c-bd78-022567d0fea0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:20dba11b-dc37-4b35-9e66-3b58e04acc0f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:88c65476-d280-4eab-9ea6-cbc48911f679 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:731f6c67-dcf8-45f9-a576-1dcd10244e38 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b0419f2d-e532-4c2d-b6b8-4092d403dfcf phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:87f25d14-360a-44be-a00a-127c3247da5b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b317c473-0466-4b0c-bed9-41c90cf7bb20 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:591b9b3a-3d0c-4616-b4f5-787a83fc5719 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c8a783d1-3ea1-4f9e-9391-5d70960c8567 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:75f07b17-3f5f-414c-8abd-571b8ec45a5e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6f67660-6084-4eef-a576-d3e22560f9f0 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22988667-f774-4372-a321-1616dafd37d7 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9d97c4a4-7f28-46f9-9932-e7210e3e15d4 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3deaca3a-b768-4a21-9897-1c3c3cc88e71 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ab852c9e-82b2-4ec6-aa18-484317bb9742 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:adf5abf0-7382-4bcd-8669-7cac2ee41a88 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ac79861-9315-4319-973e-7ca6f353c8de phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8a3c360e-f518-40d1-bf32-918fee284498 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5dc71bc3-53b0-4851-988e-260cfea7ea9b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:888cc0b0-9c15-432c-92d0-47e9ed8eb116 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:713179ca-f063-40aa-9ee0-0b2d676190c8 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7f875caa-9c46-41d8-ba2a-d1fb101113d8 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9418fa4c-cea8-4eb8-b4bd-c087e22a8d6b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e4d42894-1b65-42a3-9829-a72a95b72d9e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4d0f4c53-615c-43d8-86f6-b32b2569ad19 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c467c6a4-122b-4d06-b984-1c7ac806a105 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:35b5cad6-c4de-49d3-b2c9-a8ba443aa90a phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e6bac13e-fe08-43bb-9b59-0d9d40492420 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68f93757-155f-4bc0-88b1-e68688970f88 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8e267779-f134-46e4-ba9a-2f8efa87cf4e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0b86f5d-d53f-4325-adab-58fd3d42e9d3 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:afb03c57-cb18-4352-8e5e-4d90b5e86d5e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3bf2e1da-4d45-4401-aee2-5ad863c50b45 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:84db60aa-23fb-48f6-8dc0-626a8294ae6b phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b8521ff-eb44-468e-9593-de79fdc80799 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f1a1a86a-f87c-4ed8-80f4-3c80e7d40bd6 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:de36f526-b72a-4fe4-a021-cacf8cd54639 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb38e4b6-ba68-4cb0-bc20-487b368efc72 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f1eb387-09b8-4cd0-aba6-6bc0b4e1f6a0 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b26136ac-1877-43bf-8462-80bd8fdfbde5 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:01ea3fd3-7836-42dd-b3d2-222b86f05c21 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2b061b72-aab6-4bc9-a745-6a8a6abb3d95 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c2af3b8d-fb57-40f3-99f7-764a7e8d53b1 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:42968a61-0823-442c-8ff1-b58e4e23fb0e phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9131c410-10e8-47de-b58e-c83f4c0f3863 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:312607cf-ea89-4ee5-ae25-722e26f372c0 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aefeb817-50b7-4bff-af65-f35ff660639d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:60fe9e61-7447-4b65-b7b3-012b90e6d28b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d4967dde-9fa5-420f-921a-06bbdcadfb5f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aa2cabae-804a-43fb-8aa3-8a6427275e03 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2af03311-2253-4a1a-b65f-61d8c1f934a2 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ec56c37f-90b1-4bda-9bb1-ad97fd8eda40 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e899754c-c7e0-41d1-9d46-5c650ca14d7f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6c2b437b-241d-44d3-bf43-23c1f69a129b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:22243130-7e45-4788-a80a-1ba2d1bd807c phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:931bb0f9-4c3b-4687-b7ac-210ead644fa9 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3363b851-38ae-4cbb-a190-d5fafe17a435 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cd56716e-354f-4d4a-b41e-daf6f75a3645 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:68a644ad-15c7-4529-9107-364954f3cdc8 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a385f021-fe92-4fb3-a8e7-50f80fb8a43a phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:61860fe2-19fd-49d4-98fe-56e070d7b89f phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32c6f0f3-4548-4f2c-9874-f31e5dc518a3 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:69661852-482c-4970-a68f-344df60b9f03 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cc15bbb5-2c05-4305-be95-cb2acd832f8f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:feabfff1-8153-4f39-8213-e7138b065e63 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ee22b6d4-8d09-4470-b69f-7a66fa800395 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:43de46d7-9068-4edb-9ac5-089d6cd85c4f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7ea956a-e6fd-4181-8c0f-00b19ff71c4e phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2bd2171b-3149-44fd-8f4c-ebab4cf7275a phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0de3d9a-15c5-4bf1-b059-8e7b828521cc phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6070b3e5-198d-4850-abfd-10dcd6d0d6be phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:78bebaca-5b11-4302-9261-5df1dd06cfa9 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:394b1841-6b22-4674-aff4-ef4373f4e1e0 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:68c3b934-943c-427f-9aa6-98f86d0e893d phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd0b2afa-a922-4db2-97e4-fa01cfa550d3 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:133b4ca4-527f-4736-9e7a-53df6f2f04db phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4ff4bf1c-869f-4e4d-acd0-5c6d62415c59 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4796ab0f-3efc-4bf5-acbb-1ea4812f031f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:234a36fc-a8be-4edf-b7a5-0e5e52adff25 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e296608d-7ff3-4725-bce8-cb486ff02fdf phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0f994cd7-9bcc-4aba-ae60-766f878aa05f phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0ad9e67-50f9-429c-a0ec-7c9dd78b73fd phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4e79cfe1-77f4-4217-a3e5-f904eea7e479 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:32ee28ce-4958-408e-a34a-c2451190004e phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6815cb49-a571-4bb0-9a4c-f1327c3e1fb7 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d8133c1-56e4-4092-bb76-1ca00d65a8b9 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2705d803-60e2-4842-ae11-e90fdaf5f690 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d886c03-17b1-45a8-a630-f80135b91361 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7192e03f-e4e7-4695-b51c-8bc421deb309 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:044aea4c-6e84-4174-813e-47971534f1db phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80c8a407-ae38-44d1-98a7-5108d6773ddb phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7dc31027-9e08-4459-8ddd-9a0bc0e27a42 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f0b4684-79bc-48c3-abc8-d51307fd2c45 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:772c505d-32e1-48f4-b6aa-a1ac412f7562 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3c96f58f-bfd9-4d2e-91e2-c7df24f1e618 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6439263e-d705-49d2-b710-caeb345687ff phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f7489717-ba2a-441b-8ce1-30fe7f24f88e phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b6e55935-3132-4952-99c5-48972f99fe3d phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c6b27bf0-4960-4cc5-ad73-0e805cfcfd38 phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dbb123b9-ca1d-47ad-bf57-4128ff179f7a phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:febb0328-a99e-4c10-9fb0-dacb6fd92d14 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:38ead21b-da22-4754-989c-af1287bb8871 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b7462a1a-c21f-40a7-95cd-243856fdf84b phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d7269039-6e32-46c0-84cb-ebce0a9d525a phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dfd95e24-d423-4379-8282-435c49a6fdd7 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f80e28f5-6510-4caf-af94-d85d4ca30962 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a3e62b97-5179-49f7-a3da-634116f6f5d0 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b4e88a21-f414-4488-a164-e11cc5a9756c phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c815d619-92a2-4f35-a799-e71e4bed98e6 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:6d36a2fe-7a06-451f-8d1b-4595a9344b6f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:43b0ecf3-371f-4dc5-b1b4-654529d96f84 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8831aa64-117b-4d1a-a31b-90fc4a210f1e phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f0f626a6-c83d-47f6-8430-56bad4f17bbd phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe6edb08-08ff-487f-824c-39eed9c36caf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3d0c4cbe-f0db-4b98-beb5-111abd3459e0 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9975289b-b442-48ab-899a-4e24267c38ad phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d0a9d88b-66ef-45a3-92f7-085e0beb07e7 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9fab43ac-ca3b-44a5-8540-c1cd728959e5 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7802206b-1a28-464e-9608-d6165d474f28 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1e63c92b-dd8b-479f-9dd6-68f86e4d816f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a3626a07-791d-4b90-9046-71e3c4056ace phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1ea2e551-3865-4934-b63b-1584012c6bfb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:93d124ab-af5f-415c-b26d-06dfdcdb4e53 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:193b8199-9a78-4698-88f1-6ffcedecb03a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:49690423-4b4d-47d4-826c-7d7e4258b77a phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:26a0d452-46f1-4a5b-95c7-e0e6b485647d phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3fd33b8b-4e7d-42fe-8e17-ac43e6e679ca phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f9985918-b690-4c97-85c8-cd4981b86c95 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:52d5d8dc-7d59-48f0-9e28-4f2355904ebf phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c5f537a9-b23e-496b-ad20-0c74b3764e68 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba1b5caf-6582-42f5-ae67-0776fc768fdb phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:96d786d6-bb2c-44fd-8947-1d0aca7d1439 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:52ecc615-4934-4df5-bb06-fdb592274212 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9ffba6d3-72b7-499d-94bc-eaba972cfe45 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a99399ff-c9a9-4da7-a73f-7fc660c29110 phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3377f54f-dd40-445f-9a91-192e3ab8a15f phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e094854b-ac07-48f6-a535-0c4c299132ea phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:899f9780-b22d-4809-bdaa-869b3d052ef6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:239c37f9-05dc-4fde-9a5a-3a7fec9f5585 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:706dda01-c6d5-4c6d-b1ac-59a05fa094f1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:47941470-e85f-46e0-9cec-3d112a829cea phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aadea434-dcd2-4b2b-a741-febfab9a0dd9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c4c4f093-6208-4d8d-818a-18f0a29e0c08 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1d29f948-64a5-4e4b-8f68-968a7da037a5 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1903724f-1fa9-4940-b38f-7137eb5d5b48 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7d96504f-e9ff-45eb-b34c-f1e778981e70 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:139abf7a-4a05-4c9d-bfff-aeb84833401e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d5488a89-d18f-4ff6-ad9d-102c0489abde phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b7a48bf-9872-4650-996b-7c86bfcd7d2a phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b634fe4-2b90-438b-8a68-e46d5edbcae3 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:47819ca3-0638-4e75-aacc-dd20b4b28915 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6fe08db8-de81-451f-b5cb-9dd50cdb177f phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cc9feb5-c6ac-4d83-a47b-e95baaa7bc1b phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:93150972-f046-4cf7-a107-175be8cd82b5 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d7e045fd-b4d6-4990-aad5-7e2a9eca7224 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:daa69786-b1f8-4e27-9635-cdbc740ea7fe phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:72564396-458e-4371-808f-f74f9e1af296 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c2850601-58a6-4703-bc4c-59f7208b6cf1 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1909fbe3-6a98-4b3e-bd43-c2e623bc5902 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b4bfb785-e463-465a-8ba7-f0dd80f1ea21 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1ae79f71-a815-4918-befe-00f3ccfd0acc phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f044b79d-3aeb-4c10-ae0e-421c37734512 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:293883d6-e5c1-4b94-a3c5-444b21944437 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:10677130-7222-480b-a828-f5d010659d20 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:67cad254-c779-44bf-8229-affc3e6abbe0 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb40b74e-1b9c-45fc-b4bc-2893b86b1f91 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2f98aa35-8198-482d-a53e-981e0eaeb588 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:57f20ac9-d5d1-43e8-bdc2-c3a34cd3063c phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d75acaa1-49ba-4fb5-a3f8-f8aa371cc30e phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:86749935-931f-4d85-a412-979ec6a09e31 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e38e4593-79de-4edc-8152-dce07955cca6 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1fc1ab6c-ed48-4f12-9cfc-dfdc46879cdc phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a490e2e4-c42e-4f0b-adaf-2a9744dfe305 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b9157224-6e01-4c08-8e3b-982e8971ba38 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8b30fbef-4333-42da-88f2-d751311e21a0 phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:aedba400-5298-4c98-88a5-a322b382c75f phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:f8099038-4d35-4dd9-bfc9-d21c39ce42c8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4da3b7d0-0734-4e88-99dd-c0d8c4112042 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76d8413f-aeef-44c6-832b-f47455fe0993 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:3a44bcc0-c0e3-4b11-a877-1b199ad29054 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:77a4e255-e115-44ac-9111-461a29f272b4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e70a47b1-4922-44e1-b964-c511269ccd81 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7952155d-e7e5-4f62-8126-4d93ff298f92 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf0ac2b2-4111-41d7-aaf0-c6b8ecedb6c2 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0a220fa6-4bcf-4016-b919-f85a3addcbf8 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:174fc22b-80e2-47db-8df4-0bb5569a583b phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dc83bc8e-8c7a-47ec-b25c-14ab44f41501 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f118d35f-cd42-4939-b665-c1a46dfb78c4 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3d0f17a0-1292-4a9a-bb30-026ec894fde0 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:607b8d52-5b1f-49e8-a062-fd5b2fca0d3c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2925ce06-ac31-4298-9d11-1a9585397357 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7bb4c7e-7536-4c29-be0d-628834d05928 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f293afc1-3d9a-48ab-acf7-6485fe09bf76 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2dd6f01c-4709-4418-b9df-224714733412 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7d70df96-05a7-44e0-8651-a14260b6b004 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8911c4e4-3440-4e57-9833-5b98689bba4f phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a2364d6b-116f-4160-b556-8fe827248b76 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0490451c-9bb7-4b8c-b10d-df5ae76cbf21 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e018ec54-2de6-43f7-aa39-5cb638a746df phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e6c9fb99-144c-458f-9ee4-478c704e40b2 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9b45590d-e974-42a9-bdf9-d7079aa7486b phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0af8b510-bd57-45bf-8509-7bc307948aa3 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d80a64b6-15c8-405a-8377-4deeb4580dbc phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:a07a97b1-54fd-4357-9327-e0c77d43edde phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11fc462c-fae0-4888-83d6-8e83ead051e6 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:547bea8a-be21-40db-9b8d-46a99c0a604b phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ac46c197-fb90-45d9-b992-0c91eeb0198f phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ad6b25b8-9cd3-45e3-a115-5b9bc4c18bbb phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:435d40d3-c265-439c-bd12-dde9a8aadcf1 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d019cbc6-f166-4a1c-8527-f932e09ad318 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86a162d1-16ea-4b17-a3f0-c2cd9d8d5101 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6d724655-f956-447e-8259-13e78ffe427c phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0762d0c2-e5ae-4456-ad55-348d8363ba5c phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c063a6bc-cc24-4d6d-a13f-7c29d4066d22 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e99cc2a-4da3-452d-b9de-8f36dc5b5e63 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bc5e1fe7-5f12-46d6-b93e-ffc925f9ee97 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:c0caee69-54cd-40df-9757-bd93c6d3a208 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d3a171f5-6b92-4e08-91bb-4729e9b723a0 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ccde28f6-768d-4d93-afa8-78af8bb075da phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1579bcf2-98a9-493e-8542-4966ccda97b7 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5906af5a-461c-45a3-ab9c-97bb2ab87830 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b94deff3-70eb-4c41-96b1-619a18f2104a phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:96eb1613-ce6f-4e79-8140-f0775cda2190 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:84482157-39cc-4105-9595-448be887506b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8fbdf732-3f7f-46b0-9a0c-4349dbd403fc phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:86e67022-d46b-4779-b519-2aa109e40c1d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c0ac38f5-ab55-48a4-99c4-6b2499e539d1 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:efa1fa7e-33ab-4205-afc6-869e797fbf78 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:00422e43-25f7-4c03-a93e-7e86018b5a22 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e22e307c-9b86-4825-887d-de2e6c63a616 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:59e4bd5c-829d-4ce8-8356-ca0b0c54969b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:124dc358-b7d1-42b4-9f95-02c29e17d064 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ba7f6e27-ce3e-4005-8ac1-cba689438374 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3594acfb-fcc5-449b-a2fd-1d1f2f3c64f4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:f17b24c3-fcd5-4082-9397-7dffa4e8c264 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d431d2a0-526a-4a9e-bddf-5c3b504048f7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4c7a92d9-ce94-49d5-bec5-ac3198b5a088 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:47e034a5-ccd2-4c0d-8dde-8fe15a503a86 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:158065dd-a0da-4bbb-be32-309a53517579 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d91c4b4f-eb67-4903-8ca7-f14d3d106ead phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8167938b-5eaf-43da-af59-6cc8b6306d55 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8b6a4e22-dc41-41ac-a3be-660e083580ae phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aea480fe-649c-446a-abc5-9af698642f74 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:cb9d016b-9bb5-4f52-8baf-082d3bda8b76 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a4de11ae-6e4f-4188-aec4-b5bf6c07de9e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5131dfcb-a161-4e27-8e89-0971c59e73c4 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:83b5f382-c1f6-4d84-a526-fe11387ae87b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bf7e32dd-9310-4651-9530-f7e9ad2657d6 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:9aa75d61-2be9-474b-88ed-b6df0c14249e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:10c6cce9-66ec-4947-8aa6-3a4c771b589d phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b694f23d-871d-4248-9ceb-02c49414a73d phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:22d49301-3c08-43fd-a76f-9f1e134c05a6 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d1a9c15c-8996-4eaa-9a46-2847c94ab8a6 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe5ee5c5-904e-47b1-9c8b-4083d3898241 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:481b900a-839a-466e-89d4-761c29a74cac phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:647c72b7-e216-4b4e-a313-e8d460f5fae0 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:9f68e696-dbd4-4102-8d09-55459828b0da phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6b0aad9f-6747-43c8-a7c6-aca4b01856dc phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8de1601f-1870-42e1-a312-c4560d537f17 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c243caf7-6125-4ecd-a8fd-4b2a310d8bf3 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d31e98cc-548b-4b2f-932f-e09c95d821f5 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:4b97a17c-c9cf-4b59-af6e-675ec68c516a phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bf5b5fd1-d1f3-427c-b808-6dc5ebc2556f phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:48334e4a-6ac7-4bc9-82e9-c7b0f0ec5248 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fc7d91cf-6197-496a-ab60-38c9badd192e phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:22ab7edc-c174-4ff2-8508-83b1859eaa18 phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:2b62ecb4-9de8-4d4d-a369-0b4445a7738a phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8aa2bcf7-16e0-419d-8172-5b3a2a1a2318 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:581ac3df-37bb-4fef-bd1a-71861094abf1 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6f03db48-baf4-4a63-9f53-37044d264757 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ff022ea0-dd07-4bd6-8559-3bf0098fe661 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b77f5b91-c563-4353-9877-add7931f7513 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e8f5386c-d1de-4df0-8ed2-eaa25430dd24 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f028fca7-3f4d-4405-98d0-963e06349009 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:eceb1e91-bd4f-486a-9838-bd6f814263e6 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ea70612-cfb8-4117-8fb9-4c0227a8920a phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:45b6178d-d28f-4d5c-9466-3b38451d8a8a phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7e4cc0b5-629e-465a-8fe5-664b914b19d4 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:15b838ad-8640-4323-b7ec-50babefdff0a phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:eb57bc78-6833-47e2-8746-decf6a3ef713 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:30bdcb97-2664-44b9-8356-944bc3ae6db3 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b130f568-9c52-4bdb-889d-e9dd02984ff5 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:27af80de-a8bf-4c48-b4d6-22f3c818c69d phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:73d16bef-6778-4f50-a87f-b790de54fdcc phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4565eb09-e3a8-4078-abd6-6d516e3bbf2c phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:64aef87a-0348-4aec-b0a2-525da4bd3f51 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fcf9de9e-ef41-4f84-b42e-4067175cdf69 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:cb291004-e379-41cd-b300-cf359c5ce8c2 phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:987adbb5-fd76-42a3-a700-808dd68983af phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:230311fc-d807-4440-a0de-5dc95866078f phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:02f83202-89a1-4ea2-a84c-8ab58a71472c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:25ca0bf2-d777-454e-aa5b-aabe071901d2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:fb985cb4-77f5-4907-ab8c-8d81d6e62ee7 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bfb1306f-16b0-4bab-ad0c-2a570a12efbf phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:2c2efc0a-3768-42f6-8e02-09ede3933f6b phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:60a3c425-2547-490c-bcad-0da10a13a01a phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1212d1e5-8ef3-44d1-8f43-4d99d97b34b2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:39161878-f0f1-447d-832e-ea1e7e56ada2 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:add3fe1a-6cb0-4190-89fd-f84613545fb0 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:091b1598-8b4d-4484-8474-7376d3e3a1e3 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:17178233-84e4-4c4b-9313-dd34f37153b8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:45651457-62cf-49ef-94e5-a9d63cb1bb91 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51837f0b-2940-4f21-ac4e-164847238b73 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f92ae488-57e3-4a97-96de-112b5423d10e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c29403de-5f5c-4de1-b0fd-994de480ea90 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cb3b637c-fd67-492d-800e-c710c4b93c6e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0aeb6bba-f149-4fc7-9363-403c765d9eea phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:bad00bca-e35b-4879-8340-4ab7573999d7 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8891ea79-a334-475a-9eb8-d386638c2569 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:5a045a93-4ea4-4b75-b928-6df828d766da phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:4b37784b-ad75-4b4a-8d97-0af9e443c4b0 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e0a536ea-6479-4869-815b-0da853234848 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:dc22f89c-e5db-4655-a120-57cac0cf21ce phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6f6a8c57-fc85-45b5-89e3-6c6a4b03b97e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6d11c307-c438-4940-94bb-0ff87bdfc1bb phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3d2f12fb-64e7-4815-9250-6b88a362b47e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:0be13220-6c38-4ffa-b2cf-5b44e158898d phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd8af718-cf0e-40b8-8596-b5a1c7a162c2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:619e3601-cc30-41b0-ad3b-5a80273b2293 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:bbe72f38-b5bd-42cb-a3c4-ee256ae4fc83 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12435364-1920-4164-8b17-aa2d27eb9deb phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0452796c-6c75-4322-8b4e-2b6394b18743 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:2f736b55-f9a4-463f-a57b-a351e10bf169 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fb07dbcb-2e1b-4e14-a2b6-77a315cddd8e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fe739b2d-f12c-4620-a3a7-8c542a3cb3c5 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:45b589ba-8742-4937-b195-5e7dec2c42b1 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:79ae080b-5be9-424c-b813-281cfc2ff661 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:3402f8e4-2b40-4a2f-a174-d64d0973320f phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:65a5d1c0-968c-4cdd-a693-5a6b0c30f5ad phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:edc0620e-f718-4436-8beb-c7d2b51ce714 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:13110493-161d-4eb0-9cf0-69ec5dd5bf8c phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:610dea27-6ea9-40a3-a3f3-8387595c9c5e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8576cd32-c382-434f-aa55-c5c71af6e665 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6b6c8da9-b7a9-44ca-beaf-48e3cac89fdf phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:795fb20b-3d75-47bb-a7a0-7228106ee1c8 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:963ce878-ee99-4e9e-845d-d2a9ea59f526 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:015bd320-c235-44c8-b325-47f957816984 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d63751e3-e241-4b72-a6b3-5ec9ab950d0e phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:8f215fea-391d-4b9b-92d8-5af631a78ffb phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:dd63fa75-6670-4fc2-83f2-411c6c161d41 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:cb48787f-52d8-4312-aef4-1aacee995587 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c9a1c343-c186-4e32-b307-90c63f7d55ce phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6edbb374-f408-4255-bc35-4cbbd6aa6a1a phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:12a961e5-4b5b-4a05-b8ef-e81f000712f7 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51bb7d25-c4e3-4d93-8e2a-002c2783e3a0 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:11615fc6-ff1a-4858-8837-bc524d521b42 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b89ec6eb-6412-4a26-ac7c-b512d7bb1d92 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:543fca15-b5bf-4345-9197-1b5773360279 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c3f1827-5496-4b96-b9d5-d063264ed930 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:fef954c5-a333-457d-93a5-b8776f12f03c phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:afaf1131-7243-47b7-bf9f-4d9f893528c1 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:61c2f65c-5537-4026-96cf-6943d69c9f19 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:f528bfb2-f9d9-4b2c-b5b8-64dad25cc313 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:76f26ddd-e328-4a6f-98c8-30efaea1fb96 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:51e24e32-0f7d-480d-8f2f-0ff2acba3166 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:096713a7-df39-4ff1-98b7-be114c015549 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b62f35df-12d1-4af9-9d28-320b24d6ea70 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:aab9a2bc-41a2-499a-b79e-704a033fd9ec phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:25ffda66-76bc-447c-9288-bdaad8753b35 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:b34db466-ecfb-416f-a94a-4190659db05e phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8f87523e-4a66-4ff1-80e7-d1531e6ccb34 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72127052-d6a6-4b0d-92b7-3195c65db964 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5d31ef07-db24-4963-a3df-61b05ae11bf6 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:9f80d622-01e9-46bb-81ab-468bcb54384e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:80560f52-70f1-4c8f-a004-aabb35469202 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:b2550b5a-9626-4bed-9101-72d7b3811ef2 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:89f34ebf-3b91-4138-9e53-b6d4f1f09a3c phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:d60458a6-25cb-4375-9d38-9e5ea9a0efe8 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:e4b5d370-79e7-4edb-8bd8-95e548ca83d9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c7fd2e0a-53c6-4395-b597-8b8ae4ff17aa phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:17415eec-7bec-40b8-8e43-d72a3b8f477a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:514b97e3-5df0-41a2-8b16-a4f0d7924910 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:18433f7a-1593-4833-b664-11b73b89a742 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3dbf5fba-181f-46dd-8ced-027eb3c0fe43 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8a2aebdf-b83a-4ada-9c77-c766d68ca4a4 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:917eae54-e751-43d1-abe1-ff21d6000acc phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:6a767ee6-e3a0-4e54-a549-46ba383e8256 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:7f7d57c3-3874-4e17-a849-9b5f8cacd87e phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:d1d26379-063b-49d3-8318-33e18072a3b9 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:e29108e5-28bf-4b60-8642-42b1092f3e2a phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:5b37f963-a87e-4fdd-8fd0-23ea38c64683 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:41c8bedc-173f-43f7-b656-acc9a9f4ac27 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5cd6c3e7-079b-4a14-8c9b-abcfcd2d2784 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c2892680-8968-426d-b5ee-67db54aa41ed phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:499217fe-b6c2-4104-bd06-9f1fb9f7df4d phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:aa587790-0740-4702-b672-0bbab3ed699b phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:7d12f51e-5aba-4728-82c8-8fc1710b3bc5 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:c45b5655-fab8-4e9e-831a-75f015086dac phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a79911bc-aac3-4386-b534-619f54d2ff8e phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:a8497ebf-dd73-4402-a36d-3863b6770fcf phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:80a91451-1bf2-4c9b-85ca-c41ea40bace4 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:654fff1e-bc81-46ab-91cf-3876cfa36382 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:1f9035af-e8b9-4196-8bc2-711f28139d01 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:8847afc0-5d20-42b3-85c7-a3810bd65060 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:0e06064d-d06c-4542-8398-7d06e7e39941 phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:b544c784-34a1-4bb0-9178-cda4db012d5a phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:028fa11a-1a13-43c8-a0bf-bc0d3e123eec phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:0ee66194-3a2e-4389-b899-60ce5104e7aa phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:ecc2422b-6075-4bac-b0be-e60d39717be6 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dc1c2d7c-02e5-4885-ad1b-0da7f0ed221e phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:8c51317a-54dd-4ed3-b88d-582cac523f04 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:6e1f5b48-6acb-4c1c-81c4-28fa4a8e2929 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:dd3f315d-b4d2-47d5-85fd-ecedf8b90526 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36446582 uuid:5185319c-cded-4c2e-9db8-7de9157ee29f phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:3efd0785-9a4b-4ed8-80a6-3ee78cd949ce phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:ab613912-476d-4357-bdfd-986d3ca0a041 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:e4c87bc4-6977-4511-a634-b43374f1d9e6 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:27fe5265-2f58-48f8-a7d8-d3b65df08cdd phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:448ec10c-da80-4148-980a-32c4eaea2b87 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:72827113-8bde-42bc-b406-5d6ff9f614a4 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36446582 uuid:31e2cf9f-bd5b-481c-af5e-119899f7fa58 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_disease OMIM:148050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:4beedc24-8c55-4a2f-b369-15296a759347 phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:has_gene HGNC:21316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36446582 uuid:d345464d-fb81-4058-88d0-8ce1605e7952 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:741ea7cf-9a4a-4de4-bb92-ab9fda70a880 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:f9f66d97-2869-48eb-821e-6f9ec022bcdd phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:01be0e22-9c6c-4627-acc4-7641e9d63aef phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:5bf43fbf-5e4f-4cae-83a4-f2cddd0cfbdd phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:d56688bb-4dee-42bc-a52f-02e9b2f8cc3e phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:2b4dc2dc-c01e-432e-81d9-1b50eaacde1b phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:131e3686-126d-4885-8cad-010a77bbb487 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0030939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:75206cc0-1984-4242-8a81-50f7b130667e phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0000274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:830acc55-6d73-48f2-811d-efff19468d61 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0000706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:9c3ba752-20b8-412d-9a72-395e54da71ed phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:fda0713f-da08-45e5-a7ac-b7da47443877 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:068b8a6a-9e6f-41ef-b193-b4a2c8b52aa5 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_disease OMIM:230740 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27587992 uuid:cec6aba7-7a31-44e1-b2f3-ab9152381f90 phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:has_gene HGNC:21014 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27587992 uuid:c08c0284-2c7e-4e47-813e-9567959067d6 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:a0c61a0b-7250-439c-be98-54c7dedc8e05 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:5bf1beff-0091-4e8d-9774-d81bfdbf44b6 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:24025776-6743-4ab1-9ce7-e1a82368e635 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:a51a6008-d803-4317-824f-7f667ff1cb65 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:727de3ef-d7e3-43e4-937f-7041b000e74d phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:2155f930-4172-4002-8d6e-4fcabf794119 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:7e00337e-296b-45e0-bd2c-fbae32be144a phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0030939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:17484fa9-f52e-4e6a-a9d3-619b14e748fe phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:aad22d3c-8c89-492b-b90c-5e2e7c3e427c phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0000706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:5d97bb92-c633-4905-a53a-2fdccb43c664 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:c2009f4e-f3b2-4f15-809c-66b67dec7bf7 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27587992 uuid:66167507-f4b0-49f4-a3bb-5070a1af660f phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_disease OMIM:230740 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27587992 uuid:d50b3fcd-1e79-48c1-8d3b-18a055a2e374 phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:has_gene HGNC:21014 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27587992 uuid:032ddbef-b1ba-4f63-9ffa-2960f6d2321c phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:f4838238-1375-4586-8d84-7a0d4afedcc5 phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0030350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:1c520009-4715-460a-b0c8-58a35db3e52d phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:8aeccc43-3d40-4b61-9d67-a979280d45af phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0002243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:34a8243e-caa0-410a-92ea-f960fc3e4815 phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0031359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:22fe95ad-1a1f-4deb-a82f-8759d3b7b2d7 phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0004395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:13971d59-91b6-4dd9-a83c-6edad0999fee phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:5f9201bc-ad1b-4437-8fd5-c28c538021b9 phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:30050362 uuid:fd996cdd-5648-410a-aa83-7820ac388928 phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30050362 uuid:2861e2a7-65d1-42cf-9e56-01af57bd6bc0 phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:30050362 uuid:269c144b-84cd-4386-b832-121d13b9d0ab phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_disease OMIM:228600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30050362 uuid:c4770bf6-56f2-4efc-a211-57c60d82091b phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:has_gene HGNC:21732 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30050362 uuid:52b0b346-603e-4abd-a5d1-a68239eeaba2 phenopacket.store:APOA1.PMID_8675681_male_proband biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:8675681 uuid:a8d0fec0-afe9-49a2-9bab-220c434efa3e phenopacket.store:APOA1.PMID_8675681_male_proband biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8675681 uuid:8c93e2d2-aa4e-4464-a8be-db1b6d5dc44b phenopacket.store:APOA1.PMID_8675681_male_proband biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8675681 uuid:f2daef02-fae0-4ede-9126-cb249f00b7ac phenopacket.store:APOA1.PMID_8675681_male_proband biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8675681 uuid:03bbb72c-c37b-4c95-9d59-378c999427b9 phenopacket.store:APOA1.PMID_8675681_male_proband biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:8675681 uuid:5166579c-f506-49dc-8304-57526457daad phenopacket.store:APOA1.PMID_8675681_male_proband biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8675681 uuid:7f669165-eed8-4ff6-a4ac-8357975fbf03 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:7493166 uuid:26689639-77f4-4ec7-b8db-49a48b5cf58b phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:7493166 uuid:2c81f456-98ba-4b8e-8201-fded42bb7d50 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:17ff55dc-725e-489e-914d-26cba20603bf phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:da3ee042-1e92-4f36-b3bc-da916ef704e8 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:fa4c5653-ca5b-4fd9-a38d-978af211ba77 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:7493166 uuid:7b47c250-44d3-4699-be87-021d2724facf phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:7493166 uuid:4db51783-2694-42dc-b1f0-269a71e31d0d phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493166 uuid:f92b9299-5fdb-4de3-9da3-3112dcb70cf9 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493166 uuid:9d3cedbd-603c-4392-999d-6dc902c07aec phenopacket.store:APOA1.PMID_7493166_proband biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:7493166 uuid:cea6a911-2689-4f16-ac6d-95447acac2d6 phenopacket.store:APOA1.PMID_7493166_proband biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7493166 uuid:db077ded-861c-453c-b2d7-df6080820275 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:10487826 uuid:d7688d6e-e3ce-4082-919d-38e39e8ac2be phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:10487826 uuid:fa2bf14a-6d60-469b-a278-d8fc89160c44 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0011034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10487826 uuid:c4f53603-4ebf-4b0b-9795-aa1132fc34f1 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0031799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10487826 uuid:b990c598-676b-42b0-936f-30c8afbe1f98 phenopacket.store:APOA1.PMID_10487826_proband biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10487826 uuid:5b4ba828-e6d2-4f2d-95cc-082510b6e7cf phenopacket.store:APOA1.PMID_10487826_proband biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:10487826 uuid:9ecd23c6-4c80-4c2e-8d2c-a042e66df43d phenopacket.store:APOA1.PMID_10487826_proband biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10487826 uuid:34550ea3-48d0-4134-ab32-b602f6a2d8b6 phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:10198255 uuid:62467281-48a4-49b1-ac8a-9893572f9736 phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:10198255 uuid:9acefb7d-4c1b-45ed-8980-0e86220dbf60 phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:10198255 uuid:d5ba783a-3abd-4734-a576-215e6be87e6b phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10198255 uuid:08f5bf3f-0a25-432f-b14e-21fc8eefcf10 phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:12050338 uuid:ba56a1dd-f01c-4fc2-92da-32d962b02bea phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_phenotype HP:0001609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12050338 uuid:4d1ed9f5-18ef-40c4-aeb9-e08513c22fbe phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_phenotype HP:0000789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12050338 uuid:fe64bd5e-94fd-49c6-8ea9-b194313ef7c0 phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:12050338 uuid:13b84218-50f7-41b2-9257-3a942eb9652d phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12050338 uuid:4ceeb228-4224-40f7-b530-927830453c36 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:3142462 uuid:b5d9ff95-e3f0-46cf-85a4-b0140238bb86 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:3142462 uuid:9814855e-1419-4a56-ab2d-b6a718b4ed65 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:3142462 uuid:16b77b25-e50a-4e46-bcdc-7dce4512b261 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:3142462 uuid:1979e0da-bb62-4d07-8d26-1c54bbd8cc6a phenopacket.store:APOA1.PMID_3142462_nan biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:3142462 uuid:8c6eef52-57d6-4200-a364-506650ac0712 phenopacket.store:APOA1.PMID_3142462_nan biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:3142462 uuid:72fa2359-0321-4847-8327-a614fb29a3ba phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:9916936 uuid:8af371f6-42b5-44d2-ae2f-288d0cb78a75 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0012309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:9916936 uuid:72a1c39b-c10b-4f93-b42b-3a792dedec94 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:9916936 uuid:ee019822-9e24-4aa0-8db9-43b22f57c2b2 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:21362885-0781-4662-a905-335f8a63faa4 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:0cdc7449-8bf0-4d78-a8cb-85baf2f98d35 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:9916936 uuid:0c6a6f74-d269-4746-abd2-bf7a416f95b0 phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9916936 uuid:030935a4-24d6-426a-8ffd-ea4fd8f38c40 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:10198255 uuid:a1c9fc71-16a4-46e0-8889-eb5e3a7cf484 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:10198255 uuid:c686f224-7f13-410a-b1f6-83c4e0df5ea2 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:10198255 uuid:236581bf-b744-4fd1-8535-4d0d38422079 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:10198255 uuid:f638b882-7463-4d63-af2a-3177c77d74de phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_phenotype HP:0003216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10198255 uuid:0283c827-5133-4686-bc1b-bfa799d91acb phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:10198255 uuid:0292c8b6-e31c-4479-b600-2a901d6c4126 phenopacket.store:APOA1.PMID_10198255_proband_father biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10198255 uuid:2d00e5f0-2675-45c0-87bb-f3eea2e604a3 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0012309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:9916936 uuid:1612d110-8bea-46ea-aeda-d2d1aa3ecc64 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0010637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:9916936 uuid:ae237d5d-6c98-4512-bdcf-5e40c1d8790b phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:029a4b51-faa7-496d-a0a8-a44ab7ac98ac phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9916936 uuid:8898c461-ca0c-4ae9-8e0a-cb19e92b2843 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:9916936 uuid:42ad5480-7c0e-4221-abd2-e88a85d7b168 phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9916936 uuid:02d7bfd6-36cc-47ee-a843-007b52840ee8 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:9916936 uuid:e3a635f3-3f59-4dbb-b53b-b1eb4f66d138 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_phenotype HP:0012309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:9916936 uuid:34bb5f76-7e99-4a4f-a077-deb06287b161 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:9916936 uuid:923afd2d-3852-4f2a-a0e3-05ce98bbe76f phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_disease OMIM:620657 biolink:CaseToDiseaseAssociation manual_agent observation P51Y infores:phenopacket-store PMID:9916936 uuid:b13c3a27-f872-4132-96b9-547cc9a0e355 phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:has_gene HGNC:600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9916936 uuid:7b7fe7e4-9777-47fc-9a24-b4e04de4ee2b phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:9c76a147-899a-4560-a140-a192eff78e4d phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:52e7e3b0-b6ab-416f-bd1c-8acafdc118b4 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:70a9dfb5-03f8-4029-976b-b9ce1e248c5e phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:415c39ee-3533-4740-b3a2-e3eeb7d5edef phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:feff5142-726e-4912-befc-44d7769e8637 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:706a92c4-6ffc-4206-84af-c0ec2ed485a8 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:98816d3a-8d83-4c9b-9eb2-53d031eb9089 phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:8b3f6dde-faa8-4e61-aa9b-524da0365ce1 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:2ff85c13-ae1f-4e4f-9c10-39e9e5fb964d phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:dd6042df-c8e1-47b2-b6ba-7e922859a38b phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:9875ec1c-2144-4696-a54f-b01c6478b619 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:48b9c3d2-9fba-4279-8831-189911600fc5 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:1787ec93-4089-4807-9b3a-4a37cc25b360 phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:f8c67626-12c6-4bc9-8993-df2a5a98ea9e phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:ce88cf6d-7988-4cb4-9127-31b23b1e8f9f phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:ae7ccdfc-f1c3-4973-b906-2b6ee4bac179 phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:3977a6b2-ebdd-48bf-966e-5ded981a7d2b phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:460a8e47-5c44-4b7c-97b6-786034977a4f phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:583f16f0-1d0f-433d-b1eb-6160d42db382 phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:716c395a-c134-4743-b8ae-c7eb0407c6a1 phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:c1aef79a-f3a4-4687-a9af-b217c5f23e0d phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:d94bbc80-926e-4159-ba1b-f0daad35704c phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:bd23c997-e736-4c19-8640-00ace3a217a1 phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0002239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:198ccd48-952e-4d37-a4d6-1b3e862d6aaa phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:d2332cac-9148-44f0-96cb-b82db91ec259 phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0006298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35638551 uuid:20076222-4197-417a-b200-6605a8fb0467 phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0040184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:26907e90-6e19-4bdf-8508-01c598a76f21 phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:72df28de-eaea-425a-acb9-20a98a05cb27 phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35638551 uuid:5c64ca86-9b9e-47a2-8d36-6b97f8b6addf phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_disease OMIM:620715 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:73edada3-02b7-4db8-b839-868a6069d29c phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:has_gene HGNC:25268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35638551 uuid:7f5bb309-6a88-4b87-89ec-804261831d39 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:6453654a-37a3-4bee-ac9f-83e6c50ddd45 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:74791a84-e58c-4147-83b2-92d082ddd250 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:863b9e91-b9c2-45f9-b0f8-e50acc95ba2d phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:b0b394e6-dd9a-4cbf-aedc-5ef58a33afb8 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:66434fd3-5342-44e8-81b7-804a5d692e00 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:9752ca8d-6c7d-4c18-85e5-78858384cbcf phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28652255 uuid:e56e4ddb-1eb0-41d9-8d81-ed14a3df9c8b phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_disease OMIM:208920 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28652255 uuid:8534eb20-aa58-4595-b21b-a2494be5fa66 phenopacket.store:APTX.PMID_28652255_V_4 biolink:has_gene HGNC:15984 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28652255 uuid:0e1b2f0b-5c43-4560-a163-9694b6f1a438 phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:70d4d9e1-bb0c-4ad6-b41f-8fefe2e5b441 phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:fd80247d-9a79-4c5e-92dd-88f0cf129459 phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:9f591581-a436-4b50-96b5-452ad0aee22f phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:33cab2a3-2e56-4046-83f6-a37f7da7997c phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:dc515179-4ac1-4c6b-90d1-262a3e9b3618 phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28652255 uuid:b3d9df1a-9072-417d-a58e-ba4d683eaebf phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28652255 uuid:0a1e61e1-5166-4b03-bb34-2284f38a4ba8 phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_disease OMIM:208920 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28652255 uuid:44451990-e3ff-49d9-94b2-be6e8edf6ea7 phenopacket.store:APTX.PMID_28652255_V_3 biolink:has_gene HGNC:15984 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28652255 uuid:5f5261d7-ebec-4b49-b754-077022b5a91d phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:649ab8a8-c61f-4c95-8d18-4e10eacc806c phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:93518f19-57a6-4384-a7ef-fcc8e249fe5f phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:042705d4-7dd5-4328-8d40-4b4f015d2c59 phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:fec5ad52-5de7-4a41-af5f-7da31d854add phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:327b9598-7f4e-42ca-8eb7-0588166cc8ca phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28652255 uuid:d4960e75-70b2-4c82-b5ab-8607d39d7562 phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28652255 uuid:225cd5b6-1bb5-4c54-8e4f-9a961037a3b5 phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_disease OMIM:208920 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28652255 uuid:9463754f-4770-43d4-a112-98546b404c9b phenopacket.store:APTX.PMID_28652255_V_6 biolink:has_gene HGNC:15984 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28652255 uuid:6bfe6a46-3d69-4653-a7ac-78aa2dbc2ef0 phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:72e8bc1c-1c09-4ccd-bd8a-4dd7b9bb9c79 phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:ecc733ae-246d-4681-9555-c139010e9394 phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:728ae54d-bdc1-496c-a093-72b1d6b765d6 phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:f9f33d8c-8f34-419c-bda0-c7b5d733b00e phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:8514d6f8-1e45-43cb-a722-338d8b1fe6e7 phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_disease OMIM:208920 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28652255 uuid:864d2b3a-e02f-4672-ab7c-99d754de0133 phenopacket.store:APTX.PMID_28652255_V_5 biolink:has_gene HGNC:15984 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28652255 uuid:d43b96b5-78cf-4935-a722-35a8827421fd phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:317e59df-4bdb-41f1-864b-14c426f3cd1b phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:ceea2f00-4f41-46e2-87fc-9619d6df23f9 phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:56b4b1fa-86bc-4c1a-b0f9-61a27869376d phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:b1287fbe-db4d-440a-8a13-bd4af2844c75 phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28652255 uuid:4bda29e8-7d6d-4676-8277-498f363bf643 phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_disease OMIM:208920 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28652255 uuid:5a3bd442-d481-46bd-80c4-efdf9551d0c2 phenopacket.store:APTX.PMID_28652255_V_8 biolink:has_gene HGNC:15984 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28652255 uuid:1a9e6bb8-9c29-4119-941b-bb850564702d phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:28132693 uuid:d4832ff9-6271-4ad5-a012-68ddc1ae70cd phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0030786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:28132693 uuid:05fea8aa-34b2-42ba-bacf-cca6d3024935 phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:28132693 uuid:fd862ef0-7885-4a58-ac13-18cb12db8bcc phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:80f71f93-7e74-4dbf-b575-29fd36a6352d phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:dff0116e-90a8-40eb-b552-abfafc61380e phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:f67bd55c-b690-468a-9f27-099ffafd8060 phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:c40f28b7-0def-4381-bf79-182ae1bac911 phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132693 uuid:0dbb3560-b97e-4b1c-94dd-0f29c0d1d0fb phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132693 uuid:9d86c288-9ad9-4174-98bf-013eb6d87349 phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132693 uuid:23087a3c-46db-463c-bccc-dce2f43ad299 phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_disease OMIM:617433 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:28132693 uuid:da5525ab-e4d5-4f0b-a22c-0a1f29b38f53 phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:has_gene HGNC:17090 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132693 uuid:200d4ddd-587e-46a2-a2ce-0f2bede608f4 phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0030786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:28132693 uuid:e7c1f8e7-2f2e-469f-b548-439451bf4d0d phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:28132693 uuid:cbc23311-1343-47af-b4cc-27bc73cdc657 phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:28132693 uuid:b6a29528-f89e-438c-a241-4a03edfa85de phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:7dec0518-5b80-4618-a72d-da5f6825b924 phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:9a4582a3-6e1c-49d8-8fb8-c1c6354acb86 phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:c6467bc8-fc23-4e9c-99fe-98b701722ffc phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:7d160316-c44e-4a64-98de-5acaf2b9f96f phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:9cf4a50d-6611-4210-ab03-9bb1f7c6a7aa phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:fbe6f4a6-3cd9-447a-adfb-f5f0c2a8ff9b phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132693 uuid:9975c850-0698-45c7-8e27-72f3b8cf93f2 phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_disease OMIM:617433 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:28132693 uuid:5e4709c3-b666-49c4-9721-f164ba17383a phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:has_gene HGNC:17090 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132693 uuid:b55f346c-4c8e-4be7-8640-e1d98ef29ffc phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:28132693 uuid:eb70f6a3-97ee-420c-8c3c-f67e27c78784 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:28132693 uuid:99bdd3f1-5456-4d17-97fa-6d5603692e13 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:28132693 uuid:8c0ce2a0-b085-424d-8fc9-889702083f14 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:51dc5fb1-0136-468c-bd6d-c9ca27b5d6cf phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:7efb328c-cf9c-4c3a-9e59-d92ceaec9192 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:8046984e-fa0e-41c7-8e5b-17b3225ae715 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:15191e67-41e1-4083-a80c-6eeb67949f25 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:434e42a4-8876-4eb0-b742-1518038792ac phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132693 uuid:efb1cec2-c7cf-439c-8972-82324a81cf08 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_phenotype HP:0030786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132693 uuid:cbbbf185-2c4c-450b-81b9-cd813115ec6a phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_disease OMIM:617433 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:28132693 uuid:3cbc2be3-0b95-4507-b7e4-b56dcc41d953 phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:has_gene HGNC:17090 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132693 uuid:828892e4-5a64-4040-aa22-db888f0a03ac phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35534203 uuid:83c0d841-b1db-40b7-ad9e-8f4ce3402245 phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35534203 uuid:806a9ad3-ac53-4804-8b3f-733569945bf9 phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_phenotype HP:0030346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:b55212b9-49bc-40e4-aedc-f87aa3f8a30a phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_phenotype HP:0030345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:021217c0-a45e-4cf3-9d19-c20d84e1e4bd phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:4810afe4-f11e-4434-9760-b5c1b7069106 phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_disease OMIM:620744 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35534203 uuid:898dbbeb-c60c-4a7e-9896-3c38e8a9bb2d phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:has_gene HGNC:21099 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35534203 uuid:a5f0f8ca-d3da-4205-a194-248dfe54661e phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35534203 uuid:a3dde556-b65b-4c10-947c-05f5dfa6ff85 phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35534203 uuid:f2987748-7580-4410-8ab4-ade421278c82 phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_phenotype HP:0030346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:44d99590-f7a5-4ba4-87c6-b37248b5bb8c phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_phenotype HP:0030345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:f8aea93b-6927-4057-b82d-f1a7c842a84f phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:b735246a-ac26-4fd4-b4ab-815647bde727 phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_disease OMIM:620744 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35534203 uuid:f821ddde-6993-461d-a085-20205406a347 phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:has_gene HGNC:21099 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35534203 uuid:dc37918d-b8fb-464d-94f2-3ecf420fd0bf phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35534203 uuid:8869b455-9b57-4189-bf1c-4df489dbedf2 phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35534203 uuid:7b863309-1dc2-4b94-987f-5b9c4fd5e1bf phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_phenotype HP:0030346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:935589ef-23f8-46a7-91d6-061cc759bf5b phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_phenotype HP:0030345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:2544185e-0a83-434a-8c71-7a646fc0ebf2 phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35534203 uuid:4cf95076-6903-4e25-bd8a-08fb3af1ea23 phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_disease OMIM:620744 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35534203 uuid:96ddd8d1-60b0-47f3-98e7-919061bc4c90 phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:has_gene HGNC:21099 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35534203 uuid:485933df-5b0e-438e-baf7-48192aba89f0 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:55505743-d5c1-4534-8b07-52d58a619780 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:ad6a632a-bd17-449e-b8f6-b91368c5c01f phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e05c80bc-8605-4065-bf42-f61b65f89661 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:25156bce-ae23-43cb-9df1-b4065108beaf phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:bc545999-6a76-4993-8cee-8515d93d8faf phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:77d27014-47de-4078-8a49-41a55c82e099 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:b1abca96-4e9f-44b9-a3f8-991ace38171b phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:def089a4-be18-41b0-9c38-61a36feae552 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:1257fe79-17ea-433b-b3ba-7ba7dbe7fc01 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:013f1a82-1370-45cf-9144-1612c050e5c1 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:57b3999d-00f2-4ad6-9fe5-59a0ab97d4a0 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:03ab65ae-9cc2-4ba4-b417-386b4dc8d8a3 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9ea96397-4c0c-47f4-b6ff-324b786229c4 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:c0aa75f0-9398-48d0-a9a3-cdd9a6e13278 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:942807b4-c8ab-42d8-973d-e840a66d4976 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:94523bfd-3a86-4138-a83f-1e1283c36fa9 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:1ddbce4e-7586-40e8-82f3-e11bc5a4efc5 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9ad44369-98c1-46b6-82d1-ea75b773f071 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:4900e037-81f2-4113-8666-9eadabda4055 phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:fa1d3000-c53b-43d9-95ad-2ee9782a3c64 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:9c862ee0-0776-41f8-b3df-44b8c24b3db9 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:cd5457e1-50a2-4437-b3dc-24c7054f5f44 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:1a858719-0705-4c6a-a252-b4d7e184a4fe phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e3df6415-5458-46f6-9690-e7b69b521298 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e7cc6d08-4b5b-427e-a324-ae8261beaf0d phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:aab7f53e-95b7-48ff-9351-b199832f61c2 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9251a42c-ed7d-4aaf-92ed-6c5841816e00 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8b3b0f1c-232b-4747-978b-6b92a14c7a5e phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:5376e51e-9462-4534-a32b-196084c2273d phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:c533dbab-15d1-46da-a64c-6e1db4b800c1 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:a2bd76f0-a7d4-4864-a63c-9982f7624539 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9f6cd83f-edf9-4786-b729-dc12e8574348 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:125b5cec-9346-4aa5-abc7-010fb3ddaeb8 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:b278b7e7-bc2b-4b17-b6df-469afa51957c phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:36cc34dd-0589-4a27-95f4-ac80814168c8 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:2cc8d16b-0f58-4f2f-aecb-bb94505cbe08 phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:1faa1023-ff59-4d0b-ba71-61b8a04ee55f phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:3620882d-68c5-43ca-bd78-d1f9c51987fa phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:df05e04b-fb2e-4e2f-aa1e-2ce8e34c8774 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:502c2b1a-77a4-4231-ae70-32c745f8b326 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:032556f8-4d20-49dc-ba6f-7a0ca9839e4c phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:bd58800a-dc1c-4c2c-88e1-6d24de9d4625 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:655bedbb-ffd7-41aa-9612-5c5a11182651 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9044a08c-a7c2-43c1-8f6d-6b41e1b105b4 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:715f06a6-fe0e-4dcd-8bef-adfaa908952a phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:fb3cc857-bfff-48a0-b8fd-9002f44f2013 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:2fdb4855-6ca8-4d1f-b2e1-705095b71ede phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:7bd674eb-2b9f-4ddc-b5b7-088a0b4f7520 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:b41bba01-45bb-4054-a82f-0f8eff8f4182 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:377aaa9b-9a10-4560-bbef-d7eaec6dcc6f phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:45e08cd6-fd1b-4e67-8365-8f77fd0cb5e3 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:d18cd4d0-912f-4026-b971-fabefb8edc7e phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:30e5960a-f024-4363-808c-fc0dad00461e phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:998b7f5f-9a9b-4bde-bb43-501e0bfea7b2 phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:a9405c95-8685-434c-937f-2fe1ba52126c phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:2515e5f1-7dca-4466-a684-3a2d23e2d55b phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:3acade67-4ac9-40c0-bf7e-435c22d3d2fa phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:4667e62c-103a-4585-8883-ad7e92544a19 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:92898226-da39-44b5-8846-e0928183d77e phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:0ae990f0-528c-49a3-8cc0-589fc9c94deb phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:e5c5a92b-f9b1-4e49-bb24-8eaa895e88a6 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:91b8daf6-b358-40e8-85f9-3ed2646f6752 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:e1b60d0e-54b7-4071-a27b-e00f1feb1ebc phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:70b4c9cf-4448-40bc-ab88-859b3e08ef31 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:016f1815-a7a8-42bf-8a79-4a92e8c07c56 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8a9d75ef-14c0-4199-ba79-7b9cb6499d79 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:3bf2d1da-b7df-48a0-bcfd-0075ecbd2746 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:c6109e8a-c056-4c36-af2d-6ae128278a89 phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:61f784e4-9036-40c8-b424-34fdefd0a134 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:5567c7e4-f7aa-411e-bb0e-ee917e39cdee phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:c18bcbfa-0df3-40c3-b4cf-9d9cb805372d phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:20504e98-5230-47d7-9008-fd78ec6105d1 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:7dd81ec7-1663-48f7-9256-1b5f5dada2ae phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:40b52483-cf07-497c-bcf7-bd7896e40ebc phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4ad8ac9f-44e5-48a7-8d71-7ad800fcc5c1 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:5229cb16-7390-4757-a1be-d1017e93884b phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:77ce518a-3dee-46dc-9be2-762e8a055495 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4a0cabcc-7d07-4466-84fe-4b66960fd443 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4c84d0a8-ac2d-445d-8ed2-d20ca0dd68e8 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:a9a1677d-b762-4751-918f-e94c09b5fd82 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:7a9debf8-a345-4f1f-8cd4-ba6c83c11de5 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:092ecabb-72d6-46bd-a27d-98f251d73749 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:65a5ec91-5107-4789-81fa-2c9866acb9fa phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:6e7eab44-e37e-4d37-bb9a-307d1ee3b03e phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:31682e5c-df88-4ef6-b58c-030dc8368de5 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:c6ad7377-9899-42dd-a617-2d863faeb93a phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:32f4391f-7bac-44bd-b581-f218f8738dab phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:24e534f3-9cb9-43f2-a8ef-2c1495cdb8b7 phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:ae61a02d-6efa-48f2-8635-42b06ad6335c phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:738a4b9a-8a3c-4b4e-b7b3-5a7b3049c028 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:9375d2aa-fe61-453f-89ea-ace349294e0d phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:7db4e24c-10a7-40ab-999c-450c62bec465 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4c917ab4-040c-40c3-b87a-4415347e51a4 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4d1967eb-0f11-48d5-86ce-4e343c78509a phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:ef6804be-cc90-4dd9-870c-cb27fbeab735 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:d36537f7-50fe-4577-a9b6-bb930687bd16 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:bd4e18df-19fe-405f-b454-92347db3c6ba phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8290ff34-a4ff-46fd-915d-8806cc289d60 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:391e47a5-3ae6-4a61-8f63-233661115aeb phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:fab75dfe-86ae-402d-b47d-ad668d32305d phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:a33febfd-5fc0-4b55-81ca-fdb6d07ca28a phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8e4adca8-9e9b-40c2-9fa7-f375019285ba phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:ab528d39-a080-4360-a5f4-08f9af3ebd81 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:e18f293d-3ca9-4442-9253-50afb69d461d phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:fc53b51a-8257-4325-b919-02f2c1948b0f phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:437588ef-06c4-47bd-ad61-b96bd26f2906 phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:8cd1fa4b-c1e3-4a74-92a1-7a8bc6ffbd3e phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:774d8a79-3388-463f-ad76-3f0952c43024 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:6c483db7-42c7-4e8f-935d-9cc3837b278c phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:181cea74-8cb6-4c22-aff9-63f6b58e8b3a phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e956aa3b-a40c-4610-8ac6-e000d3680e8b phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:a8126d16-b92c-4425-aeef-a8f6665ae95a phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:374bcd83-a7f4-4a92-96ea-1fd2192e4fa9 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:7cf9fff0-b91f-4b31-bbc3-47a950cc2ced phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:98112532-8fbe-4e15-9075-d97e46cb19ae phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:8ff1ccb5-2be1-49c5-851a-841005ab68fc phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:e879553d-8734-456d-9b31-6db0f55d1f7a phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:bcf4b59d-8ee9-4333-a110-e7dc2ea42edc phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:e0eb5709-01c1-439c-8d3e-0310c5932df1 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:f6d03822-553d-4ae0-8fb5-2057a90d3157 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4485accf-928a-4bf2-94c9-67e62fad291a phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9ced63a5-5338-4c17-8746-507f012d471d phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8a8fb87d-3245-4715-ada3-3e0f3a4a824e phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:105468bf-143f-4b95-ab6e-d7577834591e phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:871c60a8-3922-4a0b-9a18-74802137c447 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:85d8eff4-07fd-44e9-a3a3-ba8106fc0f14 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:c58b89be-556e-49a9-8c38-a5f5b8080381 phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:ded2e367-28ee-47bb-83d8-0c1fac4bb3b8 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:69fbb40a-e41d-4e4b-a85b-4d81badb587a phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:180357db-668c-440e-85b4-dec1519bbe7b phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:abd49b51-c8bd-459a-8ff4-c75011a979c6 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:53621ea3-e28c-46c5-9f15-e8f5ee2bf150 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:9c21b857-7698-4186-b61c-03b2f3fc98b4 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:af1ff4f0-bf5a-450a-b0a5-3a578d9814a9 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8c303b33-be03-4581-b6d4-04a2bdd7e987 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:42b47d50-059b-4354-870d-c6b76afc2ccd phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:caf8ac2d-7fdf-404e-b12a-0b60eec75a1c phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:07d9efdd-2db6-4a98-8cf1-4aa8e1a5471a phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:2958a39f-82a5-4d3f-86ff-bd45b7397e5c phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:d3440d57-2443-43a2-997a-7c2de55196f8 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:3df0ab62-a1b5-43f1-840a-2b389eff8cf6 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:b8035578-4d29-461e-a49d-9edff062f7e0 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:83d4b193-eead-4843-900c-dcb1ee93ad08 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:7740abf4-3c6d-4230-9e3e-fc3be0214699 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:06fb7a25-5844-46c6-8a32-5094d43351db phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:e54aeca4-e641-4853-bee6-7c1c8f62cf49 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:c26b523d-7719-4748-836a-ab5790f12af1 phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:7989f9d3-7806-4310-8fbb-f28a99b77ecd phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:aa69540e-ec44-4db5-81d0-4a73a51f646a phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:cf842106-8bd8-43f8-acc7-596a8b6bc67f phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:4f9077f9-e24a-490a-b036-223aacf9d9ff phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:5ef4e9de-0f2d-4633-8eaa-3687d8b65b7a phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:aa198717-e392-42bd-8601-0c4624e3fe06 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:d860ef65-46e5-4e69-bc16-031eaf49401c phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:fb9b0e8d-81e2-4109-81a6-ec61d23157e2 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:c2aea8f6-b1f8-47a2-a088-148fe2a0036f phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:7669aa6d-4797-4cae-8b88-6b1da4701f69 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:a78ed3d7-f2cc-46a1-b9af-ec1354ee8162 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:6f248de8-5b01-43c2-9ed5-7a75b52a0c8a phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:cf234aaf-bbb9-4db2-8f23-ca6ef8768367 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:b342a32b-ac95-4b79-a2b3-c22760345ad4 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:67da3e65-705d-4230-991e-b46cd3a77317 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:5e2e2860-79c1-4dce-b373-7014f7ecec9f phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:bf4125e2-2598-43d7-9772-fd5ae44c3a4a phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:67a1ed51-e17a-46dd-bea3-c387e409cf30 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:1c50c082-e188-4211-a98d-2762e38b6a59 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:9d647e04-e9ce-4bf9-8078-f7da295bf6a4 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:a94bfbc4-a908-45be-82ab-304ce187d06a phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:b953dd00-26e5-42fe-a110-cb4c01ef6b59 phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:b43279e7-da22-41e9-898f-e3cfbc78c757 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:26315a96-66b5-4db4-8ba1-2a465071a65d phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:6baba5a4-acc2-4a15-9023-4c7944241a1f phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:8d9324fd-998e-4c5a-b160-d21867bba8f8 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:c57676d5-4993-4e1a-a905-52d8e9704277 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:b0d7f77c-6411-4d39-b98f-b10be46a9447 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:957d41d0-79ed-4960-8dce-25cacd54eefd phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:6ae7f869-84c4-47b2-a48b-eb1692ad4292 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:0b3993af-2991-4081-9346-17a01fce6731 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:d2b4f8f2-377e-4941-8b77-14d9052fccac phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:81494150-d2f9-446c-bcd9-639ac065def5 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4c1fcac3-77c2-4c30-b267-140af5fed44a phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:b7d6116e-e39a-47ac-b80e-0c4eda4911d9 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:859302c7-75b2-4148-9c1c-8138937b1dbd phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:bc36cd0b-8298-4c70-baf8-3c9196cb0afe phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:8c639a56-9efb-41c3-9712-96a809da9be8 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:5d6fa047-9291-414d-b0b4-fffa0e3e5421 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:85f4bf81-2654-4193-8276-901f4cb57076 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:4fa4e5c9-f27b-49fc-b43c-b9ccb36be605 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:3db5cf7a-6d5a-4fdc-b6c2-16049eb87cb0 phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:aa821aee-2077-4421-bcf3-94e525d02a7c phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:a8ebef5e-aa78-4875-a230-e5d24c16514f phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:2c48fe95-0be3-4fa3-96fd-0787e726056c phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:41f63c42-5a63-48cd-9156-4c67d3bd4453 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:10910cff-9944-4f1e-a7df-bba8df038ea4 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:7e8a6054-8592-496b-b88c-a37e3c786778 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:4e8e622d-adc0-4ce7-a426-61b884d8e7ca phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28625504 uuid:a78ac91a-3e8e-4f0f-8087-70535b2b701c phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:dda233e3-50af-40f2-a4ea-1466edc896c9 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:40302b0c-f045-437c-b9c4-2416432498fa phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:12d7f8e0-5a6a-43f8-8aef-7866f361053a phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:5bc4216b-4ddf-4b11-a91b-9f62638ca392 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:0e4e1d75-7d0e-40f6-8425-c9f8921e4e4f phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:e006dca6-e269-4089-87ef-21d75a301a72 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:7c1d9485-78c8-4c0a-9797-044f6116501a phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:1498fbf9-f604-45b0-b4ec-38c6a5006fe7 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:cb422b33-bae9-4b9a-bb3c-7ee44440e0c8 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:c6093a82-36e9-43ff-9aca-95fbd1cb773f phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:48d498f6-aae7-4547-b1cd-b47927bece4b phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:d3d43f91-ba78-4866-ab9a-16f42718b9c0 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28625504 uuid:a64c071d-0463-45c6-99b1-4b48084f08a3 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_disease OMIM:617622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:85aee183-98cc-4260-b533-4d93bd9c8890 phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:has_gene HGNC:20730 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28625504 uuid:512db3a9-05af-47e7-bbe7-7d0bd2904004 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0032435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:a4f8b7f2-3c3f-4170-9d71-463ce5c89b17 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:34b7e1d4-2221-4bcf-b972-7a77e52618e4 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d40b0868-43d0-48e4-95c5-9f2f16c907cd phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:e0315605-2ccd-4f94-a841-04e21aff2729 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:9aff4c6a-65ca-4e75-b11a-e40ae9b5cd8a phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0012311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:48c5a69f-7f9d-49c8-a520-470eaa487f50 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0011897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:edffe924-c7e3-4059-8984-7457766a023f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:6e889691-0d08-432b-922a-b4482d82dbd2 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:787fd874-e4c6-4738-be00-0765b7b7ccb7 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:44b4bffa-115f-40da-a50d-c0abd3fa2166 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:a936eb33-04a8-4a0d-80ae-606bbb210b51 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b5adcd03-c069-47a6-bf43-eb75b47411d3 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d3da227e-cace-463c-a092-395b503cfc53 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:252e83c7-3c31-4406-828d-c25d2422afc1 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:8cae8fcb-aedf-4d52-850a-e35980f5ad1f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0025419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:e120014f-3af1-44b4-9f16-e50bdb652f8b phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:be6a43d8-e07e-4178-869f-81789cb53f34 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:89fb1f2d-921f-415d-ab80-6fdcd93f015c phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:54952d42-0037-414c-ba9d-9566aa13e1d5 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:b08d9ebe-43a6-4edc-bc80-e6047a9b340e phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:a289eecc-1d4f-4718-9093-2d3e5b5c8a8e phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:0d8c98e7-4204-4ab9-86dc-be1874ba9e1f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:b85862de-5d4b-48b7-8302-32f244734699 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0012579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:7af98226-5683-44b5-8619-1e8361c232ff phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:3f257606-9d67-453d-9a5d-553c3457e4a3 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:70890f79-b782-4ca2-8037-12722aea521e phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:ce1099ca-2957-4193-b7e3-5f643acbd313 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0006517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:e4607675-3e69-48b6-8553-26801f94854f phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0002105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:1fc41227-8b3b-45f2-a094-4d9c7200c1c9 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:276fd36a-e98e-491b-b184-3f68f6c4ec1d phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:c5e134ea-c657-4b10-9222-31bc8b9d1acc phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:6220f584-50be-4945-ab85-ba1b9ad9a43c phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_disease OMIM:620565 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:70f671eb-acd3-4e05-b225-fc39f7dd7781 phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:has_gene HGNC:708 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:3127bb9f-deb4-482c-914a-58381c474788 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:94e2c4e2-3cd5-492f-b25b-5a8c248b02d7 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:1a3993be-fa1b-4793-ab01-81415fe3dbb4 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:de9c0889-7f9a-4a45-8e66-7856048912d6 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:a0068ea5-807a-4424-abd0-620e873f1efa phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b5e31e6d-3c81-491d-938e-9965b842e4f5 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:1ffece4d-8642-4cb5-a9db-f6d46d6c1da2 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:cfeac9e1-517c-4181-890b-6fa4448e2bd1 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0012579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:16521589-7a26-4f44-92ec-a056743ff4ac phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:8a884538-f95f-4c2b-9a7c-54a7cfaa046b phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0012311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:ec8f3f4c-45cc-4ebf-9002-8c0eefa41297 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0011897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:6d988611-95d1-4bfd-9b75-5f6b2cacceaa phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:2ae04d5d-dac4-4cdc-9a1a-73af416e3ad9 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:8c2cb751-79d1-4a60-8f52-6f4547c28d6f phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d87ce581-089f-4403-84ee-e3acd4a742d8 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:bbdd2011-1d42-4083-bdf0-fa250166fcfc phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:19df9a7d-49b0-4a48-861f-fe735c6c5d92 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:294cd5b9-0318-4f06-b5d2-013d8b3bd939 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0006517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:11e604dd-5321-4a28-a0ae-21561a094444 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b12d954e-e3ff-4fc6-b720-0d8d1f10c2f2 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:3d779a4b-c546-42fa-a488-d19b7e69c9c9 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:679e9968-7f27-46d5-a1f6-b5222a98a427 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:9900c28d-2b4e-4440-b14d-6f04c17b7384 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b2bcb231-a79c-4e8c-aef2-8287e514e67f phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:cadfc01c-6384-4e6d-b990-746820cffd36 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:e5847824-1641-490d-b1cc-b02310218a09 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:b3091946-0778-4299-a214-5a958dd4993f phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0025419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:0ca90994-cded-4906-9935-dd65cd3c8998 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37349293 uuid:d57c1045-fe8e-4ec4-ac86-983d133f1895 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:7831f2a2-9444-464a-a061-c11d3ac46433 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:1d38db48-30e6-4a91-ba1f-e6a4d765729a phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:6f2984c7-2da6-4e0b-aff7-4ba35b99b7a8 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_phenotype HP:0032435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37349293 uuid:6f489c38-3fb4-410b-a3e5-a10b1485af91 phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_disease OMIM:620565 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:a5e3adf9-2e43-42ec-ba5a-16323b88d4dc phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:has_gene HGNC:708 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37349293 uuid:6d0beec0-d3fb-46f8-bf23-12d3dfec3360 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:03ce9acb-ce5e-404c-b199-fc25958b7438 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:e8a5993c-4896-4de6-81c9-2885e64391ed phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:fe2a9a6e-af10-49c4-a431-602c24c57d51 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:2b1cb6cf-0fe4-43da-adc8-d5f1c5acef8f phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0001308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:1cdef049-211b-4243-859f-1231f65a06ca phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0012473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:e0bd2d12-efd0-4698-84db-12fcc5756ccf phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:31213928 uuid:7e2c6e86-2f36-4a0d-9e9b-a20ba0b84a85 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:31213928 uuid:bff82d91-64b8-4a4d-919a-b4520c946459 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31213928 uuid:92825571-0a03-4872-a31b-7b85c036bb08 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:31213928 uuid:09fc4512-aef9-4c71-b636-f957c19c982c phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:31213928 uuid:c80eb996-0e9c-48a6-898d-e5b4c5f12067 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0045040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31213928 uuid:d91e6d69-e3de-497e-97b8-8dbc2810d128 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31213928 uuid:55221ab7-695a-46ce-a5e7-f089d6ada0d0 phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_disease OMIM:159950 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:31213928 uuid:bd51c5d7-85ea-4258-afa5-9223e18038bc phenopacket.store:ASAH1.PMID_31213928_patient biolink:has_gene HGNC:735 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31213928 uuid:45fb1105-7cf9-4779-8311-5546f0bfc71e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:ecf22eae-9f1c-4ce2-a3c0-460737c72671 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a673e1cb-ff45-4b36-bde2-6d8ec9c01595 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:37dfde18-0e18-479e-8b9b-7d4cd1dc9f5b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:f5946cd5-6c0d-4da6-be2b-06764bf1389f phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b41f847d-6140-49d5-879f-3b05ce9558b0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e27663ec-d3ea-44fe-90cb-fa62195526d5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7ff46ff8-3174-4e4d-9e31-73efbf0052c2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d7dc7d59-abcc-44e3-ae63-1aed00a46c4f phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c6655991-86f9-419d-bbf2-6c581f5d3378 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:df403475-b96e-4f33-b98c-4d5b230c4eee phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a8084265-42a2-415b-8867-3e8708800483 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:29e43616-bee3-4cc2-b666-cdb953772d37 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3d88241a-aca7-4694-b4e6-d4715508a1eb phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4943aece-3a8c-4c34-951a-31d2977e1641 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:36fe701b-f1f6-4fef-9523-4b28f4a87ac3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cb62f973-e5c4-4fe9-a01d-7fd759b2da6e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ff265ea5-0339-4aec-b533-d4b2a63e505e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b4b618b5-39e9-4be8-9919-5c15d67154f7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ddf8bcd8-0ded-4446-af84-6ebf04c9c79a phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:373f0667-1769-4240-af30-5a5ab8c5b5cf phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7705d06b-fead-42c8-baca-675ad24bc432 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:279c7ce7-d876-4877-a501-b63c0fb0e1c9 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1c440b06-ee13-4d5e-9a11-ff8078d90d71 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cd1dccc0-a4ca-4e13-ad68-d59a828748c3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e76db80d-5e75-4370-9446-5e6085e019a3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:64871033-bf03-465b-a877-456b3054b9e2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:65f10ea0-6429-491a-ac95-45a29481ea49 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:774e8375-cb18-4167-bbb3-c57ec46f64ee phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5b2a3421-d09c-4e22-addb-474a666b2d7b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6d618772-94f2-4b43-ab5d-514453bbc3ee phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:740b6a7b-5eb2-4dd2-902e-b55f8537c19d phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4751a505-3678-4c71-81ad-bb063cd4511e phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:13983414-78e3-47c3-85ee-8132436eeaa2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0e68d5f7-dc27-4136-ad3c-57c548787188 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:13ea5f50-de30-490b-8e34-593e5705550b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0dc5bce-c286-40eb-8c25-b00efa8cc8ef phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:60c57032-1658-4157-a74e-5fcae9f72deb phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1388d392-f065-437e-b852-94f9fb07244b phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dfdb9420-ef57-4d8a-947b-4a1279137171 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:123e9eb7-8dac-4dbd-8c1c-2bc50cdc6a26 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:439f8a84-6acc-43d9-b232-662ba4f13992 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd97c2ba-3aa9-40df-b550-8e46bb6240dd phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ade8b56e-0c17-4651-bce8-cbeffa0d07dd phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2d7a0701-bfa0-44b0-ba3a-f614f2d17f60 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0045bce-742f-47ea-a60b-ec0be2d81c54 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c377c438-7fe5-4ea1-b9f1-7d5fc38ed3d5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a77b243f-1d28-4c77-88a1-d74c3d652089 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd00e7f2-49f6-4da7-ace2-6911cfeb353c phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4ca072ba-540f-4ce9-a819-6573ea16f68c phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:4cda3b6e-26ef-4a52-98fe-a59407add213 phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:77584e28-9a3f-4e12-8376-d7b26615479f phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a25d3819-7cc2-4191-875b-e9c5a5a164c4 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e92760bb-faf5-4d28-8c5d-1eb5543ec511 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7fa4a37c-d960-482e-9ebd-571f5215bb5f phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:05a0dfa1-681f-466d-bd93-6b2dc3d3a38f phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f89cfe3d-a2ae-4e7d-a0bc-c11ccf49bf67 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:30ae6427-0fa2-4050-8d7c-88a194ce69bb phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de1bb226-009a-40ab-aa73-807814382dbd phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c4eb9161-0420-4fd7-8e96-fe7534a7ea66 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:14e98722-9600-460c-9993-dad6828d8d42 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4754993c-ca5a-41e4-8487-eb2845767eac phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:da0b7452-22d2-494c-8f81-d90e212e7a8d phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:715a2844-b716-4e80-8d70-06d8dd42fffd phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5d5bfd8d-e167-4741-a6e3-26c06025a122 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d155a99e-55bd-4f50-8dbd-61d75acbbd9e phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d86d4e64-7aa7-49b0-b78d-2fc6d2651846 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4f930c99-60c9-4349-a9a2-84f348eda6ce phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f50cd2f9-e08c-451a-bfae-675eab820ca8 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd3a7535-2761-43c9-8e25-cc5e027f1ed1 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:14edaa9e-6bbc-41cb-9a20-1a7f0db28714 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7405c4e9-60d6-4ed2-95f9-81a476fd8c08 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e3ddf139-6ecd-4a5c-ad5a-6d768c71f9b3 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d62c6a05-1a8d-42f8-afae-2ce94abb8d92 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5dc2d4f0-d790-4382-aa32-21f28b908122 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0a946362-4d42-4040-9b1a-d96c0dcd9c16 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0524d54a-484d-48b6-aab9-44c9fa6a7845 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6f9ae67-0eb3-4e59-884b-365344935ca5 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d2595405-eb0e-459a-8eb9-4e0de521d1f3 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:88fb3a22-3a32-45ec-a4ca-b85a3a5d6ad6 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:609f2fd0-0d92-48f0-879e-ce2aa84f36a3 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:865d2a86-db63-4ea2-a39c-906bc94ced1a phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2cf00012-a753-41c9-bad5-855879173a7a phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c02de95c-d1d2-480a-a5fc-d925f81b913d phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2668c53e-1204-45ee-a563-ba29574c54e4 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1bc1e8d8-5395-48bf-aeb8-4f0cb73e7144 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:5ab4515c-f6d2-41d0-a319-d8bb92308770 phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:ecc87c01-5847-400e-860b-1eb0c3d7ff5d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:bb3e095c-b99d-4feb-8a59-584b8140d20f phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:430d145e-e1f6-4fa7-bfc2-f6605410169f phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a86452ba-4357-4f37-b2c1-44908460ae78 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:94dcd1a6-0587-4dd0-9912-8ce0b3b0cb21 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:53cc6cea-960f-4e26-8a48-988e65c8700e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:19ae7bd8-1484-4bfb-9231-bf7258c43ee8 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:882fbbcc-5000-437b-bdac-914cdf5624c6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e89e0b92-401e-4d67-add7-4ce2dbfaa2ca phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:4b78b2ec-df74-4c21-9b94-3efbbea96066 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:267a3f58-25a7-47e3-83d5-f3cc0ee186f4 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:90ead890-eb04-458b-adba-017b6bb738f9 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a0868e18-1431-4749-9778-e7b02b776f5e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:bdc8e806-8fae-4810-a70e-56f7f9fd984e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1038c646-429c-49fe-bb25-0f8158d8b770 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:62bd4d2e-c17e-47d4-b286-bf29972b83ef phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a29b1136-9d6e-4db2-acd1-fff47f154e02 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2e9db605-bc01-4a3f-945c-e86c2f16a43b phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5fd8bfba-7bb9-4138-bacd-a710473d877a phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e7a1f631-aa30-4d1e-a72a-37ac6d5884f1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ab509563-0d4d-4444-ae1a-7c9ae5ed26d6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b64e0fb-2dac-4d5a-981a-b3ce477d03d8 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d7a9179b-8c9d-49a4-94d5-1be16b7ed26b phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5cb0d39f-62df-4ed9-a1e9-b4d363832b94 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e4c8c2eb-5ec8-46d0-96f5-5231eb9be70d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dee02824-9ee8-47b3-af3f-ba9de68cd3c1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b533d1e7-f0b2-4db9-b45f-e4435d3b7a9d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8211c1c2-b54b-4f01-bc87-e3a337e3473c phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:738b301a-53ba-4556-8d3e-4ea117152f0e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ab94fb39-28e9-4023-ab50-9d28b7e321dd phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:eda818f8-2db9-412b-ab50-b0eaa9942c42 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:18ae8b32-86e8-4464-ac6b-be8d0ac1678f phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:53106ee5-55b2-4175-8982-0e3ad0020c0d phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a4ad4ff0-c619-4814-8a34-b92800d75988 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:996d5d42-b110-4fc6-a9c0-58b23d6836e5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f2117400-82a5-4662-8c2f-0b289ab60a91 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6bef91c-3028-4200-8468-66494f9b693e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de828263-ae04-46f9-9134-1a713f05e692 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d290bf76-c7c3-4cab-99aa-30fdba4fc185 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e6839f96-ecac-4415-88e5-873208bdc9a0 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0e928b7-9332-48a4-a1da-f41d6fe00cd5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5d797f86-7173-4e79-9f33-3c30d47d12d7 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ff06bd39-0891-47af-9018-c0168b92f5b5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:213df4be-ab00-4765-bf94-5df91555fdf6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6c7b0642-6846-4f9e-b870-0f14500acd4e phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7715ce88-67fc-46e5-959d-4ef449e18ec1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2240bcaa-d645-4f2e-b59f-e99ee4533cd2 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5e5f1fb4-b059-4a5c-8f62-4d3f8c50030b phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:68708746-3dc3-4efd-a3ff-815d93ebdbbb phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9500f850-df7c-4e5e-ad64-22142969b3cf phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ad1b2404-84e2-4a7a-8391-06e9ace930ad phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:df23a5fd-45fa-4cfd-9910-fa21a8315685 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:c2256223-e3b1-460a-bf94-d5fc6dbe1751 phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:522ed356-ecf9-4b7f-a4c2-2639585180ba phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b7833fcb-1de6-4d3e-a50c-40dcd588e7e1 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:963d8399-0629-4ed6-a564-ea29a3d6e663 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:56ce6fd2-a0cb-47ad-ab18-423f3b764501 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1b6b65a8-8488-453f-ab25-bf1859ffc50b phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:035c500f-1547-4520-9acb-be19945e6bdd phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:972af639-402b-485e-b900-f7849249e27a phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:5bae73a2-a3fb-4603-9f5a-aa97959e936c phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0db70309-9e03-4f96-9a60-ea03539c1df0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5291719d-fea5-4455-8e1a-afa04e44597c phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ce67ebac-dfbb-4d84-a132-3a2a08410963 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bbfab5bb-c38b-462c-9ae1-c9b6426c33d4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d9afe48a-d786-40a0-970b-5514660791f1 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:114e4c0a-5b0d-4900-9d39-a9f68c053ed4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8c7f6368-4d7b-4c91-8ea6-b6c9ca445695 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a2ed380d-4346-4d7b-9cf6-10514c605b13 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:99f3c685-8be7-41f3-9c2b-45c1c474ff80 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cdd660db-3905-4726-916f-c54a087adb83 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b548d13d-1b4b-4c25-aaf8-eca55b14451b phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:817cfe0c-a7b8-41a9-959e-1f0c89a66984 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ce25823a-7340-4ac6-ae19-aaa260e68a90 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dd597839-1c64-4431-a0f8-5cdb6821e415 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ca54fb72-fe41-46d1-aa0a-a9ceb81dd8e2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d638b1bc-cab5-47c6-b457-e487e9b95469 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6ae0492-dc3d-43d7-90d4-2fa360d442f3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ddfd4ba6-67de-4c27-9bb4-7d9f83bb38c3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:33999854-eed0-4d7e-a9ad-8eda49c895e4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9c6e0732-55c2-4095-9b51-d719c1b6ffa0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fb7dd212-fb46-4ad6-8cfc-997242473922 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:69809bb8-5063-4ae7-a9d7-7ee3d5460a35 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fea59d43-8389-4174-bad6-5e17eec7536e phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:838d1fa7-959f-43b4-96e6-32f929680515 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b29cca8a-b97c-4a61-913a-93e7f8ab88fd phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:57023d54-7939-4961-a89e-94360ded0f0a phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7caedd0a-682c-4221-855c-03f93e971312 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:71d2b812-21a0-4863-afda-54a250de4a25 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f2995b6a-6e61-400a-acf8-619f5f0a82f2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2bc13976-3e37-41d2-9c7f-d524f8962996 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:064175d1-1192-42cc-91ff-da85310e224b phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:670f4330-b1a2-488c-a0df-5d742038dfe4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3e9f0e2a-f4e4-4371-ab65-e81a77e1ea89 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3ce614b2-68ce-4c9b-90e4-cf2a0216b666 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:701a75a3-3c53-4018-bb04-63602e38c1d5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8eea993d-e6b8-4509-84de-5824b8df6a69 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e8663f39-f39b-4d40-b9e3-297ffa0a1ace phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:281cedb3-44aa-4c55-bc41-a3dbd5615133 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:132f7f3d-addd-4f31-aeb8-c1c27a240f2a phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3d0f5ec2-1d82-46a8-9249-2c9f219dc05e phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3ec83745-7df6-48ca-8840-4af0d8cbf7d7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ff3d8176-ad6a-4776-a440-7e3560bd1eef phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:4a296fc6-759d-425a-8bfd-61f570a04754 phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:edb7eb45-f6ee-41c8-a512-756ec76d0944 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7ba5b042-a32c-4ded-b6eb-204ade285884 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:24a9b65b-805e-4001-b77b-f1210f35a929 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3876b689-3b08-44f8-b3e8-a9aeb2bbaab3 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1ed550a4-4857-427b-aa1c-79e1e8d946ac phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b6266654-2939-4a93-a69a-2a1fc3e67d0a phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3612645c-feaf-46d8-85fa-86b8c6ad2d1c phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:0e0f988b-3c7e-437b-be64-35623dc2ad02 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:6bdeb287-6318-444e-bbbb-6efa2f43ba80 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:da89832d-0d5c-4783-9edd-a80f0c213f29 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:c27dac2f-f98b-4f78-8919-4cd2bbad3ad6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:2292f5ad-ca98-443d-8e1c-24a075d78314 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:98f55eae-653f-4e11-8ee4-192790f2b730 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:954114cf-80e2-4a2c-80de-1dc6ba988e98 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0f0ee2ff-b0a5-466e-bc71-9a10044b65fb phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f73336dc-e0df-4c6f-a54c-0f7ef2aa0fef phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8197f2ac-1db7-4bb2-9425-f8858454d9e9 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1bb9d13f-ca2c-45d0-a397-32e85e74feab phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4192fd19-1f0f-4dbb-9fa3-ea3244c6485a phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9df79d34-4c6c-47c5-9fb8-b857f2be3cbe phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a989fb5d-5eea-4c07-be96-808a69c1362a phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6d31b583-aa94-44d4-ac0f-2f1c9e06cc93 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9f48461e-1980-4a4e-816d-6be3f7ceef93 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:296e1a86-bad7-4d24-9c43-ac9db9f2f233 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:281b88b2-558e-4518-a829-98a649a1be49 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:74d30666-43ff-4a6d-9ab4-657f4e1b7d30 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:58c8c894-a6a7-4ace-8f23-6900d27bc048 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2b3cc3d5-c7ae-477b-a2f5-5566c60a9b39 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f46f2680-c694-4301-803e-b581e5da59ac phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f152c530-719d-4314-ae85-bc9f39d79b28 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:259c2ecf-2e8a-4ff8-b666-d249ae25c3e8 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:88539200-678c-4b83-b381-b741cbd3811c phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de090040-50bc-4883-aa8a-b903a3d94e4b phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2ff37543-107f-4ea2-9027-821b2c06e923 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d3343fb3-d470-4c80-b78a-cdb754910e3c phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f0a5b396-3d70-4774-bbc2-cdc4d8227fe0 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6c606fdc-c145-4b2e-9ec5-3d3f8e43cabd phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a08d284d-d67e-47c6-b3d2-1904bd894494 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:47031244-3af7-442c-bae2-e433feaac4d0 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:75b8c003-4a03-4a5d-9344-9787c9a820c7 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:30eccf10-a1fc-438b-89f1-af37ca1fda3d phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:51482150-21e6-4d10-8c84-6acd345539d8 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:623a06e2-62c3-45d6-ac01-52129564af73 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5f542f7f-4ddb-4bd0-b7a4-cc79fbb8c872 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ea547f18-ca25-4884-b2bd-130b5fb8aed1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1fc1532d-d717-449f-909b-371a06bd0d80 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c21c277d-1a1e-4b98-9402-fa080d3bd3d5 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:044cb915-65fa-4ce6-a429-7089155b4de1 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d43fec2b-597d-467f-9ce4-dc826ff9b7af phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:80b80ba4-ba64-496f-9db5-4f7ca1fcbb0c phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:93e97912-9440-4cf7-9de9-497ac62285a6 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1ea42375-f665-4234-bf17-f5107c01aacc phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b3d05b61-618e-4769-9888-968b59544468 phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:efde149b-7919-45a8-95a1-9eb08ec5ac0f phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:11626b01-c792-480e-82ce-5d2d1e630272 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:136e9de8-de34-454f-9716-4d0235b63845 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:9677639b-50ab-4404-acf8-f8a3b12d17ad phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3b266430-12ce-4022-bd7d-052d280d4455 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:c3ddd3cd-31c9-4b43-b171-fe05a1c1bb10 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:526cd4a2-1ca4-4254-a2b7-5cf218646890 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:a14cd921-a7ac-4e63-8393-6eed6eb637e8 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:8ee5c585-4c10-4a2b-9cd4-10ef96a686ea phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:15c9b7ea-c915-4ebc-853c-78ffa3e01cb0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:750be4c5-1f94-4462-8af5-873f4084db9d phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ef442c3e-f676-49e2-9107-ee1ac369e3b1 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c66843de-7ebd-40f4-8303-2c656cd71e40 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:97617396-4e5c-4155-9300-44b5db3865f9 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:62b7a2e1-269a-470a-8533-b387e4ebe9f6 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:107ff3f4-79b7-42fc-ab8a-cac5a22ebd14 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:10450052-8ab3-4a29-81a0-36f981818817 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a4e6e194-1673-4af0-867a-26686689be15 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cb5219aa-146b-4386-a542-6537d03ace22 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:690b9751-641e-4258-8542-22f8d6ed5f9f phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:aaafd998-926b-4188-af8c-f0c8dd712ca2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a26cc369-2314-4a90-9415-f61b4b4778c7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:71237812-822e-4e8a-88c4-8235447710ee phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8a6d7f96-f83d-4326-93d8-b298246ec739 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0fbbcb7d-288b-46d9-b8e1-1fe0334814c3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:91be57ed-aabc-4733-b5cd-148702ec4334 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a3099de2-546d-49d6-a2f7-03c6c7a21284 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e9722d3a-3eca-4daa-9eeb-cb719fe2665b phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9bb3d5a3-5a7e-4f84-a327-8df0bf818fb0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:df0b3909-77ed-4973-ab0f-7e102036241f phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dd252eb3-a422-4141-889d-714e018ca2be phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:869b32ab-a3c5-4c7a-8f06-1348c563741f phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:04495c42-d5a1-4d51-81a4-4427e8ca15e3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cf111f45-a1d0-4a53-a6ff-f425822b82b7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f2217ba6-9180-4f99-8f08-c6c06da75a9f phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b67be8c4-8855-48d8-a84e-dedc4c8fadb6 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2a3282b0-2a94-44d2-8fb6-4cd3ee31390d phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:51461f48-eb00-4f45-88a5-77627737cb97 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e5105c00-8a21-4e86-a6c1-c6538b326ea5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:66ac5761-00b4-459a-9d06-fa13888ec1d9 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:84fd0b2a-7a3c-4ba6-8f3d-9b6dfdaeeedf phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:120e4e35-8988-46a6-ab2f-74cb7f72e3f3 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c03032df-ff5e-45a8-9d8c-67c6d7d948f9 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2521398b-62d0-4108-8756-5c2d7844495c phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3415fbc8-1f9a-4898-a53d-cb16c0bddac0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5e83296b-f44e-465a-abdf-e79898a61367 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:986a959b-a762-400b-a443-b8420e3aef7e phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b0db71f2-3c7f-429b-8ade-c22ccfe2ace1 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8bf485f9-a7fc-4141-9005-a75365bef952 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:558e7089-5254-485c-8809-2f242b8f4aa5 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5b3a77f2-702e-4fcb-babe-9b06a7360e47 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:1a6d81f3-689c-4b97-9560-266f57f83271 phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:fce1baf9-2b03-48b1-a34b-e58b8b305a68 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e0412a64-a9e2-4501-8be4-81c7b06bcfdc phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d555a1e6-009c-4d83-aa7f-92bf5eaa5c87 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:8e7b6802-b7a7-4fe9-8daa-148bd030ec90 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:e641c1a5-f5bd-4a24-bcc3-6cded104dde9 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:07006216-e644-4326-a5e6-8dc9bc1141e3 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1d4b1084-904e-4ceb-bba4-483a4140636c phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:f51c5e51-f6b8-434e-aece-9722605d3108 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:45afd229-0e41-4030-8388-dc935ddf358d phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:69c142c2-75ef-4cc9-8a90-5cc5fe860281 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d90a010c-6717-4d99-b3e4-6cf607fa52a9 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:4a85bb97-281d-453c-bb5a-0f0a922736fc phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:db53fd4f-8abf-4e00-b573-156bc29749cd phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a5e9a4b8-9f7b-4058-9dd2-ecf1b65dcc51 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6f4bc23e-5b26-48d1-88d1-6e074058979c phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9cda2c14-2f0c-429d-9dfd-db36a404be12 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dee6cac9-d53b-40a3-a670-0dc56ceb9781 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1d409491-2fb4-4b73-8e3d-bfb588cc35de phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1a17f493-86c6-479d-b0fc-fb5ed70475e5 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:83660ed0-71a1-4aac-b840-0348ae9d8b69 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:41d91862-75b2-432c-a8a5-123183ca7fac phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:576fa142-1c91-4419-b9eb-e1991aa7bdea phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:50430bca-e5aa-4b66-b0b9-fb2ada4e6d88 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d11e0202-35cb-4c54-bb7b-eeb84b857ecf phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2d8ce5eb-dac9-445e-8ebe-ef6976089d9a phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:070ead1b-57bf-4c6a-b50a-9a20e438f908 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:be99e562-4e76-4815-a089-75a99d7f5574 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0b0b6119-df27-4093-b812-2c43f9eaa939 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:75918f03-4fb8-4d30-9e47-bbc1d6523b97 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:db4f6eef-e110-44f7-81cc-55703afbef26 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:494e8627-dbad-4dd3-b2d5-63cd46e83098 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8a200602-25e7-4160-9370-df0e5dbb9201 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cbbe45e2-4b8f-48b4-9d49-9a101543d0c0 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:93e25a32-46c9-4272-8a90-068ef6e662ea phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5ee7dbff-40a3-4e6a-8988-32fc7bc83eae phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1520e563-ab22-407e-b058-6ce46bf65d1a phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fb51d3a3-b849-4fea-990b-d915b6975342 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:52f7a10f-c80b-428c-bd87-ec6cef7d6b09 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ac92f053-ec3d-494c-89f8-b67189b8fc5b phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c700ac6d-a223-47c4-a5ca-8854bcca0f1a phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e436ec5c-af7d-4f9b-809d-0ebd2b798716 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e83ecda5-551c-42c8-be52-596764735514 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:60b815e4-c87e-4d37-ae33-e273b5e959f6 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cb72001c-484d-4375-9e1f-54fbfeb0599c phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fb179fd2-f8a3-4515-8c9a-08eb39f7bc3b phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8e52c099-87ab-4c97-bfb3-31b2cbff59eb phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:31ca69a1-0a9a-478c-b560-0b617fb69c36 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:463b614f-fad7-4904-9f36-2280c914554e phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b5fb1ef2-c932-4e38-be97-8a3880f5c46d phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8e1cd1af-560b-4e67-a02b-94db975f0b66 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e15689f4-2881-4894-b9e9-b9021cb0e552 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a5c2dfe9-0d0d-446f-9695-937bf9cacde6 phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:560e9c1c-8ebc-4274-8325-634763f415db phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:d0f6c309-28aa-40a1-b8ae-b2b009e72c15 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:0b495de2-cb35-4629-a050-6637520e5a37 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:67054c58-22b3-4f3b-bf44-738cc49a0b49 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:afe602f1-e639-434a-882c-fc7ee8f4af4f phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:06729e6a-3b5c-46ca-857b-29d6347ef73b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:1c7de859-04d4-475d-ac44-cd97718d8a48 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d6814330-62be-4b8c-ae98-10f6aa92b539 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:5baa35df-68c1-4e89-a94c-7e930a14fa48 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:f9b7ad2d-3a28-4298-a1df-588982860bac phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:61bc6946-73e5-4606-939b-57ae1c05c412 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:85a458fe-2faa-4754-80f6-0da97a8cc9da phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:472a7c87-2c3f-4cf3-b003-04c277ecec00 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:8c5c0cc9-b55a-40a5-8162-596f18ea406c phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d2d1fe8e-1346-45a2-810f-fc58a0a9031d phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:5fb3f955-169f-4d20-b067-48ae8fdfcb50 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:710b74b0-7b83-439f-84a5-b57f04b0c616 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:0f47bc4b-d302-4758-b4b5-86ba42355a9a phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:aeafed98-924d-42f9-954f-0171d180bc2d phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:73f564a7-c391-4536-87e6-ad5f8e9badb8 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:ce1dcd07-bb56-4b5d-b48a-a67238ec3e5b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a7e86bdc-c50f-4499-b5fe-1b4251a9b8ab phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3ea290b7-7797-4e44-bd16-2ff45511f521 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:216d4a01-9d69-4ba4-83b0-a342047dbe84 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:89c5bc1b-7357-4ba5-a2dd-075347b8c369 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:43edc0d3-b955-4493-91a4-43727ecb19f2 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b242904-494c-4d22-8f0b-e03035c9a4a2 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:16ca7ab6-cdc4-4a0a-83f9-dc3366978e30 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:cc10f1fc-273f-4a01-94a8-b2e0b3629ae0 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c0ed0cd6-fbad-4d4e-ace6-3b4fe27f00b7 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:dd078082-e258-45c1-a077-6d0c700707cf phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5f50cffb-dfde-4841-800b-3664e8618d05 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:957040d8-d2a1-4849-8b66-ea762781916f phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d78203aa-59c1-4381-9022-39daef1e8156 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3aacadfc-94ba-4b2c-b3dd-3b92665feb63 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6eae1889-e65c-4c2d-b159-f6e339b0d475 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:158ddf0c-0069-4397-9b50-4f980eed0655 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5b915e5c-bfc4-40a1-b43f-8a3ee7825cda phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8906abdf-18f1-404a-83d1-fd3efd4bc46b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6909c3b4-17f9-4d26-9d88-1cc26a10b092 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:acd150dc-aeb9-4442-973b-3cac33137bd3 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:edff8e9d-f4cf-4943-ad2a-eb0292375e68 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:066875c9-be07-429a-bbf4-9006d0c515c7 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5357f74a-f1cc-4ad9-b400-eab121b35aab phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2dff5087-3943-43b6-a275-c24da55c880e phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:77a7ac93-4b37-4027-8f68-0d378db7ed5b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ad008ef3-5e50-458c-81d4-282822b5e51f phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:de96b7b1-3834-43ab-8588-b9a77fea90fa phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:66bf0e26-20ce-4e8f-a5c4-7fa5c2c6766b phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1339fe2b-69c2-4f77-b08c-7e2e74ea1fc0 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1837130e-72ab-44de-8972-3aec128d08d3 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9fb3e20c-9da7-48a4-acca-3dfd3b40fbd9 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:270ffc3f-df03-407f-9124-fa871c2fe133 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:6f8cc534-b4eb-4481-8a09-7144b5da9ad6 phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:07ed64df-dce2-4b28-8774-38b241b24ce6 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d1801b27-7e33-4d9e-aea1-f44569597029 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b7902ac9-f249-496b-8b49-fd49688d2dce phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:41155fd8-3dd4-44d9-b32a-78ef711221a9 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b5ecad74-0f10-48d5-8e8c-14e87fa0772a phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:ab2bf365-5a83-40d4-b368-6f88cc6d7c64 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:99c6da71-71d6-4ead-9c6d-86ac1f0bd01c phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b93cc16d-19fb-46bb-bf58-72d6e8995e9c phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d4cd9a8a-964c-4ac4-becf-4cb27e60fed6 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5075bbb8-105e-4646-8f7a-c76b844cb56e phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6f35ccd-ee49-4caa-83c3-ed38705535d4 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:50971279-83db-4109-877a-f53ca46d2ed1 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b948f2a-f1d9-4ab8-b423-a210d4b1ebfa phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:734ee21d-365b-43d4-901d-d94b6692a8c7 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b1f2b42-5bff-42cf-bfca-22883819f773 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:638aa60b-391b-4bcb-9b62-17da015828b9 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:95f788b1-be88-4b80-975b-054db8ebaace phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:056ff923-a09e-401e-8cb8-c60e3913b2dc phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:30ef1a5d-1407-4d45-b376-77400633caa7 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d1b57005-2a0b-45b4-b8ff-6c1438b35f51 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:76104393-9da7-4b96-8aa3-65111a0265ae phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f7ea3d8d-56ee-4c1d-ac85-b7dbd457b6d2 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c8bd6338-4841-4340-a730-eacef70bf922 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bfaa35bd-c9f8-4cae-bbf0-50ac55bdd8e3 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0d94b5cf-be6a-472c-9731-d191b2233243 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9bac5d9e-d0f8-4605-a79b-0be8662063e9 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f42ab06c-d1c4-47a0-8ad0-a0ae8c0d5bce phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6132cd1b-e497-4f87-8f97-832586b0deb2 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:2db26385-3184-435d-a61e-11238c593e66 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3f9b2c4e-91ad-4d48-ae28-9069abbd668b phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f26bd273-a79c-4250-b118-5a23314424dd phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a05b731c-80a1-4a43-8689-ab53bebaadcb phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:eaeac955-d2af-434c-a8f3-42356e0d2ae3 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:16a70557-911e-4ce0-bf93-166960684785 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7f382bb1-0625-46d9-9cc0-c60e04a25b94 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:0f1c8e8b-86a6-430a-ae7c-eeeae364f593 phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:4c63b2cb-854d-4415-a069-9a998a93448d phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d1fe1717-4a3c-45b1-80e8-05361b288eae phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:542904d4-6bbe-4110-9810-ba4f27c089a5 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:8fb558ed-91b3-4d7d-aa0c-5e01cc97193d phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:74f91d3f-e73a-43cb-9dc7-53e7bb50bd56 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:57462d32-ee77-4bc6-84f1-17b10d2c7030 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d9c285ab-ce3b-455d-89ba-48986697911f phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:21825f7e-e4df-48f8-8a38-7b3ac664dacd phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3aee62d2-2a01-4ed1-91b8-6374ad20024e phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:21348188-67f8-46a9-b55b-84ae942e3e3b phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:b2cdecb6-3d1e-4dfe-8ed2-e4d187664cca phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:c7b05af5-f697-4aac-b5eb-d767e2b63a16 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:6076e606-9b5a-4393-aee2-5c35814ea1d1 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:3d09026e-a395-4af4-94f2-2f08a6451882 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:c758a031-9754-43bd-b775-c51238198e2a phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:da2677c4-653e-4b14-9ba9-8d34dcd42b27 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bbfc8d88-a408-4d2e-a211-25abb9d6d8fb phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a9d7bdf6-8ebe-449d-a9e7-358bbf178c23 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:32efcdb9-7023-4351-b800-fb94434062c9 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:aea8050d-2e1c-44c2-b926-c3134fd48f73 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:db1c9cfd-9049-47d8-bfbe-07ab0e79cafe phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:707e58d1-1d51-403f-806c-7a8a77945134 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e84a6c8e-19f4-444e-9e20-9e25b6cd5262 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:08fd631b-6082-4e3e-aa2f-fdb3c4beeec7 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b8ce9bdc-258c-4e3a-852a-9b892d046cc9 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:97ce718d-4df5-4b10-853a-1de8cc3c9b26 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d991d208-d80b-4f4d-962a-cfd9ab2956fb phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bdd97fa1-e85f-4778-8f22-fbe5fb604650 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3b74c5b1-a261-49d1-80d8-b4971ac5e497 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7abc059c-abde-4675-abc9-8240edad67d9 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a6905ed4-9f6a-4a78-8343-ced86faeb27e phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:304c4ffb-92b3-455c-972c-4158c0e2b0f2 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:25f247fb-f81f-40bb-bcb0-33a9af26a2ed phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:17aa0564-3b19-42cb-a51e-b469520f9a43 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a9031a37-09b7-428a-8cf7-a402fb1e9647 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5727090d-3d63-4489-bca7-4670830b9710 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e06e8e19-64c1-4037-8d27-a22b45facd45 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c0bba6ae-c9fa-4264-bb4c-8113ccb9319a phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3e69a13a-f339-48b1-a6d6-24ef3f8b0935 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e29aafdc-e630-4189-9cec-05c85f183622 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:bbc88545-b0d1-4f7b-a769-16c0303eec3b phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:222b7a0b-700a-4af6-8fcb-cb0c4f4a916e phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6b202aae-8b10-4067-99e0-0f337a7796f2 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3fb2d543-db1c-453a-914d-6753f4e9d03b phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:37c24c0f-c315-4e69-b3a6-1ec594adc79f phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:9f4b2479-1b2a-4e3d-9ddc-f491f5017359 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0467f71-6d2b-4fcf-ad04-cd8f7d4d8de0 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3e221c5d-4703-4470-a77b-953f518ebbfa phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:952f267a-284d-4f9c-a05a-b01f625a2b6f phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a0bed1c7-49d8-47cb-9dfb-b40a08edc048 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e4687843-7629-440c-a9ec-22750b153e70 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8acdcae0-9c10-45b1-b875-3e158ddf06c1 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:90c4cee6-b4a1-423f-a03f-bb0cac81b4d5 phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:958a548f-80ae-496d-9b72-1956fe43e28f phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:8aa9fbfe-8d03-45ca-a043-dda1de2f149c phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:bb672b23-c59a-49a3-9fe3-1ec8146aeaf8 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:cb30592e-df08-4aac-a708-b9a18b03ebde phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:2ba78860-7cb5-46fd-b996-3eb6c21f1b64 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:7cd73bbb-79b6-4da0-9a63-d5423eb3bd2c phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:4234a853-acfd-4098-ac39-80e1ad01f344 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:8608055d-aaf7-422e-83b4-aa7eed40a9fb phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:6a49911e-3e4e-439e-bebe-9d186fad1def phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047834 uuid:d3b65b3f-4470-4e1a-b5b8-c1fe90618284 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4fdcc9c8-71aa-47ed-a11f-b3808a807a41 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3e73db00-47d6-4872-a8df-533b969bfa85 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f1b23b93-af7a-468e-9b9f-e8e7aaf15a99 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:17ef8148-9ab8-43d9-b11a-61c152e7ea26 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3f7cd1bf-d095-46cf-a3f4-fc31eb235c90 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:3c574e49-75a1-4e4e-9409-a5ab357432e9 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:143404b5-350f-460f-a3a2-d9e8d810cb86 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:e989c8c8-027d-45c6-842d-202be197b075 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b36fe2aa-1ab8-449a-815e-ac8438c5fb8d phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:78364b93-c7c7-4e9f-980f-25d93d219daf phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1c94d73c-120d-41c6-b845-8bfbf5ab5266 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0a3beea0-141f-414e-906b-5cbe8e6fe794 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:d0b2afdd-af3e-40b5-bd1b-b077594ef52e phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:7667d265-bf3f-4886-a87a-d35acd2930e4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:f931eaf1-54c5-4685-93f3-984d98fbfba8 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:23730582-2585-47c2-9707-4281f2f8839e phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b0d4315b-568c-40fa-b4a9-b48166c094a0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:6d307166-aef6-4972-ad84-e64589744bb7 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5fd85c09-062f-479a-90c8-ba98dca98bb0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8c64a9f1-007b-443c-9a95-1ce25564ff35 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fd6ad6b4-a91d-4902-aad9-d603b3e0f11d phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8c246a59-d191-4034-9f07-9153f255a7aa phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:8a84d8b0-35d0-4337-9678-fc563cf2ad0c phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:c6100fcf-8b91-421b-8062-b882eb64f43c phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:20310d0c-332b-4641-a48d-23a1eb54b2a8 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:59f7448d-ea27-4228-849e-e5fbf690465a phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:5df724ad-6836-4fd3-a506-98722db4d584 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1dc28137-e029-422f-9e0f-176946383aa0 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:0954b7f0-270f-40f9-a825-c4fbbf1dc310 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:693eaed1-8c76-4284-9fbe-a778e8248240 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:96a45292-2bb1-416b-b44d-fd8ea13037ee phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:93e8625a-da60-4cc2-96ee-04a0b43993d2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:258c3793-f691-4249-a3e8-19bbb083b856 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:52d6bfe1-e1b7-478d-b6c6-16e29186b723 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:fc858fe9-41c8-42b7-ba70-61e76b8de294 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:22c7cc77-518f-4652-b066-111ed21adcc2 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:112fae00-95a2-4101-b3f7-0b896a4f8f8b phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:1c8f2fef-e57b-4b0c-ad98-7943dcae0a13 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:a75f4548-2740-44e9-bddd-a0f4eed5f0de phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:4318d4f2-7034-4e2f-9830-8c91838be4e4 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:762665f4-3b1a-431a-8d9e-7d90372e2544 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047834 uuid:b11eef38-3e58-4c62-825d-8a373f8c657a phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_disease OMIM:620700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:0292e2f3-b871-4681-add5-ac1f42e6d038 phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:has_gene HGNC:18697 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047834 uuid:fd821438-1c5d-4fa5-86c2-d560f1054e0c phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:51156560-b7ed-49ff-807f-558a501865be phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:d386c447-bb76-4efb-aaa7-58ce41d29dd4 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:ca44aa70-b496-4da5-8a4e-849eb56786e9 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:5fde022d-c232-4a70-9440-abffff1255e0 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:7ef40065-2c98-41ca-8c3a-ff3352b8c3eb phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:4ec0a9b2-8a99-4295-9d04-545b7419f19b phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:753f72d0-0fcd-41e9-a682-f0e74bb08f6e phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:47266628-092b-40c3-ba3d-81e1f66423d8 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:165673e1-7a9b-47f1-bcef-9830678edf88 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:91aa5520-655c-4ad8-a22a-45d5714ae293 phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:4a4a5842-2c66-4235-b30e-197af675849c phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:08a6062c-7185-4d76-bcba-d6020d1d1e78 phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:85f76f5b-1c57-4dc5-9980-69990a85948b phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:a8c28686-778c-47e2-9f46-32091b6f8f43 phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:02a4999e-7bf8-4dfe-8937-c2e6c5bc09cf phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:af12b3a4-7278-4007-9108-681c053f2ddf phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:970ef9ce-8aee-485e-aed8-aabb0fbdcd04 phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:a65c5a03-0fa3-440a-bb4f-6e3e96ea6610 phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:d9162f7e-d7e2-40de-ae98-07f3713c18b3 phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:07b725bb-d74d-4661-bccd-a56679ca492d phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:9dc114f1-8df8-4d64-a21f-e7d56f5ea237 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:81a1632b-0fa8-4554-b8be-e7a1fd688a89 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:07897a84-5bd0-4238-8752-d57e1ee93b25 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:fad393f8-31a8-4996-9531-15a79762bca7 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:88fe11c8-5894-496d-ac13-a8ee1f1d56a0 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:55557644-0581-4cbd-966b-6261ff01ce44 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:24ff958e-ab74-4412-80b3-2e061c0f4f58 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:fadb986e-01e9-4532-a5b3-e541fa99a5f5 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:dab40ddb-286c-41cd-8a27-fff654b82500 phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:b54056f7-174b-4d04-bf5a-b3eb82a3c347 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:68533ddb-ac53-4e5e-989e-edcab328fd57 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:5bf32f41-97ad-42b3-aea6-228c465bf628 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:ba81495a-9fce-4602-8109-7fefe34750a6 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:30fe27a2-f48e-4027-a2d5-4606b70c9ee7 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:6b493194-b1ac-4ad9-bebb-88f425c6ec24 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:a146ebf1-f491-4fcf-a83e-145b38fc5d24 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:c3f1465f-e9d0-4ce9-b4e4-48d71215cdc3 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:0b117a1f-b681-4dfc-a24b-d67c76a26d27 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:c8eaadeb-2a29-4a40-b0c8-6cf5c3323fc2 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:073ad54c-68ed-423c-b974-d68adf0da40d phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:2f1c2f9d-3631-4954-aaa2-5d846d3c8d24 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:2b0fe48d-8eb8-436c-8f9d-c301b7ac0e54 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:9d4f7f81-acac-4242-b625-fcc04d17afee phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:d56809e0-7de4-49bf-adbc-b3a93b721e38 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:44561fc1-8944-4b45-9a3e-0b40f504c741 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:62a6c764-cd28-45b8-8600-9a60c57f677b phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:b02f2665-8162-45ac-952f-9bc7832f8912 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:cf5832be-eae0-4b2c-b6e6-9393417670df phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:e74ff1ff-2772-4dce-93e6-23f5b803cae5 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:43bcd751-7570-461a-8b59-7dd3278603aa phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:a860e22e-c440-4950-b4d8-24a03c270295 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:bff5ba8d-1fe3-4a90-ac6b-6466bdbe7e1f phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:4836a9c7-e8bb-4d6e-866b-a4b997d19fd4 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:7d3a383a-5f52-4153-9128-3c3511e81c52 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:77f2198e-9588-4444-8e22-71f20b3564b4 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:f0f55996-1ba3-4e64-a7bc-c9d7c06eb765 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:a149baf5-342a-4ab6-9f76-bbe82b150776 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:360ce9ba-331b-4cba-b11c-a9b01fd1aa38 phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:9740aa69-860f-47a6-b33a-611e6cdbf98b phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:795a5067-8763-4de7-b4f0-f0d09c4697ba phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:693af08d-fefd-4a2a-8242-12d315d003b4 phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:6d1cfc58-869a-48c3-8816-c46d20ed5ee9 phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:c9d5abd3-958d-4ead-b567-a9d02283fbc0 phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:02ce306d-822b-4dfa-8454-55e9018e79b7 phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:ff63ba79-ad91-4961-aebe-0426dc9410d4 phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:31a10de5-c8b2-470b-a589-f4f0d8e3dd2f phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:76835ff1-9e77-4d3c-b0d9-755623f4710c phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:68f3221e-5c37-4517-9d21-23ce4a7124a8 phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:e6a78630-85d4-4d40-9c15-7ada9713277b phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:911743e4-d069-4f0a-8503-783e8815dfee phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:a1967884-6a78-4db5-941d-95b4356d7c8c phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:1620a854-93ff-4cee-a607-79dec8543107 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:301ad4da-b50e-4800-bca8-f6479dd207bb phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:599470a8-f313-49fd-a6ee-3d335f3a8b7c phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:94b05861-8afa-4651-ac74-f3ce33b5bf96 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:cf968935-1ab6-41e2-8fcf-75037699e312 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:7aa8222e-87fb-4658-9873-ce027af61430 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:36cb1ccd-0b61-42b3-b161-f77b7d2d7391 phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:32e47096-8ebe-4d5f-8348-158b7fe49273 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:27e6152e-dc4c-4fb3-873c-af9d72f1530d phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:f7fb74ac-ac89-496e-80f3-df08a63280e0 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:dcf73050-627a-46c4-a3e5-422a6c0f90a3 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:a9b91887-e4bf-4cc1-a0a7-f0e4a2d9b68e phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:d5ce1568-0334-4d2f-a180-63c7cd17caf1 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:07600265-74ee-4501-90c8-72bdca828295 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:652fc67d-c3f6-4f52-a986-6353ecd84f48 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:fe2b3e56-2a48-40cb-bb39-fe292cb37a4b phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:05d18e68-04c9-4899-97d1-81796eec2a62 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:f9c7f840-9458-4550-afa1-48a6aaa0f3f6 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:c2a65d3d-763e-4ca0-ab5b-52896f3c5da3 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:03b06b14-75aa-48f4-b0b3-9c4b0e26bf72 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:92c9a99d-fca6-48cb-9972-efa73dbbe066 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:57dc0499-d026-4e35-a03a-99939e548a7c phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:ffe9f9db-b037-4093-9789-330d41c727c5 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:f2659b1e-1335-4529-98be-3a5f39a6e377 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:ffe05a9e-f5fd-4d35-809f-fcb19b0d4c79 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:182ae71f-0324-4a73-b8a1-59d005192c55 phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:1baad1e4-d2b7-460b-97d3-bcf645aa992a phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:8709fa6f-52fc-49b3-975f-dbce0b4095ac phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:e9f74b52-caf3-4699-9b5a-198f37fc001d phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:96d87395-22db-467b-bb7f-263f1eed0e85 phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:4d99f650-654d-4d14-9702-64f7b6f590ed phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:f2ed01d2-d9dc-4121-af77-1c6d48a06add phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:efc9bb6c-a508-4953-b6b3-c13e884bfc86 phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:e05177ca-cdda-4967-9111-bfd6a3b85631 phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:4474a362-7c64-4f10-b6f7-c8f509e2d4be phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:0467f5c4-7c1c-409b-8a6a-7a2d35ce0000 phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:121b4b8b-90ec-45f7-9bd9-3573d15907d4 phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:414ed30f-57e4-4703-ab91-576d9d6353b5 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:0d36bceb-1b79-4c81-b0c5-a4695024dd65 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:4a1e7671-e4a2-4768-abcb-a8a9eb011210 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:7d85e94f-3a7c-44b4-8592-a6c1df307dd9 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:f5c906b9-6fcf-484c-8456-c8ded32b03d5 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:eadb23a7-b5b8-4487-9e47-f2ed788407d6 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:8cb03c32-c7c1-45fb-aca9-704f9369ab6a phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:5bd4437c-c4fe-436c-8eba-c128aa13f074 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:f667b2e4-904d-4265-87bb-0194d18cac5e phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:411822e1-cd75-452f-a90e-70bc40a11b8e phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:306033a3-a9c8-460a-8a53-1de29c84dc15 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:fc340d84-107c-4ddb-a1e0-d05d0e97dbc6 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:c2d4a3f4-e305-4aed-a5d8-847f72ea0902 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:d5bd7070-5374-4bf8-9f9d-b9664f9de2be phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:54602d52-b28c-44bf-beb0-596b2508543b phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:b718a9de-21b1-424e-8562-cded40816fc9 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:299d5f7d-17c1-494d-8450-cc871fab2ac5 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:9d3938d0-b635-4472-b2b1-83fb2c6e578d phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:b62356f6-9851-4d08-8648-eb36c1873d0c phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:14a0c5d2-694f-4c71-a1a3-a63c7d3c69e5 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:16f66a4f-6460-42cb-91c9-20751da6e135 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:35daf6d6-777e-4911-a0ff-42152385de06 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:a3c92689-130a-4395-8e15-7f3a449f1e43 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:a81b0b43-cf97-4987-b285-5d8e80d22b60 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:0d2384c5-d582-457f-bacf-d09ac5e52f63 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:7b282f08-3c75-47fc-8be3-1fb0b0e75399 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:fa3c04e3-c90e-4ae1-a939-94802fcab042 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:f4516116-dcaf-4b7b-97b9-7bbcfce4cb25 phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:d070ffd0-b410-4781-ab5e-b1a30ddd02ee phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:bc418dd3-e153-414e-8841-7b2ab0943809 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:2358a79a-38b8-4c1f-bb87-860b6a77cf46 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:7c1ea388-8f87-4e80-a53a-2c7412695413 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:1a71ad53-eea9-4ccc-8943-656d0ede70d2 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:8a7cd9c8-2567-414c-b7cb-113df251123a phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:616121d1-cb2a-4215-bcd2-cb4774dc4be8 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:755882de-5598-4a8b-a26b-2d924e631ced phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:7232fbbc-eccf-4fa8-9c51-a65858ccfac9 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:81dd2137-085c-43c9-aa25-6dc71dbf7b35 phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:f109ca55-d51d-4fd8-a96a-2771a87a1311 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:7d0eb9b9-a8cc-4c72-84bb-a1d470dd912b phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:33890ce9-f1eb-43cc-ae54-c80c9067e2c2 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:428abca1-75e0-4db9-9a61-efa479759b55 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:88773706-f311-4810-b0eb-747df75b1b33 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:63f11942-74b7-4f34-a3d4-6fd2d55dd171 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:fe373604-02bf-429c-9122-2bed54cf0efb phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:1df04d39-1c82-4dcb-8fb9-cbcd01184eb4 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:3e9cbb3d-45a8-4cca-a9c3-b613e0e3de41 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:5f9cb4c0-9574-4407-9233-12a33c7d1cd1 phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:2d89200d-0de2-4b32-bc2b-317db5a9f7db phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:9452a4c6-4171-4ebc-ab7d-58a14a76f28a phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:f273397a-f3e0-4905-b556-a4bccc859e6e phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:c91fd260-821e-4afc-b072-b6e91b2b2a56 phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:c1c15376-8c50-475b-bdb1-fd2005f9bc5d phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:a33eb38c-36f3-4558-8254-e449a22216e0 phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:f8bbee75-d25d-4a05-ac28-33f1db53eb16 phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:a14d915d-003b-423e-ac6b-0a19f7db7992 phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:c8e915a5-a987-4df7-bd8f-b6232da0d8b2 phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:1e8d8087-14cd-4b69-8d26-13833dfda9f1 phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:0cad7b1d-9bfd-4c2b-8b00-b40dfa8eab3e phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:c33ba483-ed72-45f1-9b92-ed88634b0d17 phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:de4e9418-30b7-4c63-8f81-1569622e4bb4 phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:113f5cf9-7934-4f32-be71-3d7e2ba6eb62 phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:90cd708d-1156-4c83-8ca4-fd15bc30d3ef phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:efd81289-c3fb-4a40-a50b-5e70dade7e1c phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29644084 uuid:9e52770a-31d4-41fe-bbf2-6677224cb3fb phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29644084 uuid:5682d143-ea41-451f-a05c-f179fde4eefd phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29644084 uuid:c52f32ee-6f0e-4f34-aa82-b6477886cc75 phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29644084 uuid:ce2c31f2-67d7-4986-9ac6-1ee9ac2c314c phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:0def6af8-2a4b-4ba7-9819-21d73ad13545 phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:7b1eb047-da07-4422-9be0-ada41d75fc7f phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29644084 uuid:7714e463-6fcd-44bd-a0dc-1785a605ef36 phenopacket.store:ASPM.PMID_29644084_patient biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29644084 uuid:ffca8aa0-38f8-44dd-9a5a-4dda9e2ee1ad phenopacket.store:ASPM.PMID_29644084_patient biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29644084 uuid:cdb8a239-fcf2-41a9-8c92-5abcfaac5bbf phenopacket.store:ASPM.PMID_29644084_patient biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29644084 uuid:65d682a7-1de2-4648-8ad4-9ae087603aef phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:dca432d5-3dd4-42ba-8432-604c032d7ed5 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:e6764efb-9633-46f3-87ba-008b09924d08 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:7aed51ba-e578-498b-91d6-747dba622b04 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:ee8d1d4d-1d02-486e-9730-b9c911cc1387 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:be1d57dd-2055-4a79-820e-438fb94b997b phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:33400dbd-4dd9-4aba-8837-45af2c817db4 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:28d7286b-217a-4b5a-8bf1-e0acf9ae6e23 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:81500826-845b-492d-b7c3-c94db209822f phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:52e529c8-cc8a-4701-a76c-dd95813fde82 phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:3243d9b4-9020-4f69-b0cd-b891190939a6 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:7af447ea-5592-4d67-9843-046b1a03d51d phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:eb44e9c1-f23b-4d00-8d77-c485088255ef phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:2ef90ae3-ac33-4df6-8fc5-5881c2b3ba3d phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:9f3e0a2a-605b-4ba4-bb8e-86955f4f3f7f phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:2bfe9843-337f-4009-90e8-7bf2101e80fa phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:465910b3-4152-434a-b7d3-be63487eb51f phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:5ff9726a-4129-430b-8cc6-890edbe727ab phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:4ef721c5-e91e-4460-a906-440bd62894c3 phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:daff97da-9c9b-4833-945c-d7315208b45c phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:df138902-0cdc-4ec1-9373-58fa5afad5bb phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:844d75b9-a2ac-476d-abf2-9c2d583df42d phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:47cd2dc3-7d5d-4863-8942-11dccbf5af0e phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:6772490a-dbf5-480a-ad5b-29073dfb1765 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:40462421-f830-4706-b196-de39f7308e2e phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:718e540e-d42e-468c-9821-86bd24903cf9 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:ff987478-5e79-464b-b69b-84efbdb7109a phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:effd70cf-a82e-4c7f-9222-c828e86bb302 phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:c4dcb7ec-ae1a-4d73-ace7-72440038b136 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:77921dd7-e802-42ca-a72b-50cea2c89001 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:4abd5946-3b83-4057-bad0-7c9b53004ced phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:fbfd9592-5ad9-4ac7-8c32-4490bf5236cc phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27250695 uuid:9a6ba632-d57e-443b-bb1b-362cf45b361a phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:32935a19-b2df-422f-b9d4-da9630219b4d phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:bb1dce57-3b51-4c5f-91c9-8e0627d6593e phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:9a15219d-6944-4593-8af3-e1642cc43740 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27250695 uuid:86910ae6-24d7-4abd-a553-5392ed4c90cc phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_disease OMIM:608716 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:a81c66fc-3636-4403-90b2-f6665739c5f7 phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:has_gene HGNC:19048 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27250695 uuid:3a665a9b-c54f-45ac-8bef-03811fc6cedd phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18D infores:phenopacket-store PMID:23099195 uuid:edb27ee1-646d-46f5-8e8e-a17a34757f48 phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18D infores:phenopacket-store PMID:23099195 uuid:54543297-ce75-4ce7-bec2-5929f2ec643c phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18D infores:phenopacket-store PMID:23099195 uuid:196fee14-86fd-4e1e-870a-ae970e35681b phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_phenotype HP:0012120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18D infores:phenopacket-store PMID:23099195 uuid:fec4c0f9-8e9c-4c5d-a3cf-007873d2dc3d phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23099195 uuid:5efad905-c58d-4d9f-901c-39ebf20bcb45 phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:6d4bf5dd-2576-4a16-9f96-2bf08a94eb6a phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:7cb682e2-5eae-459e-a940-6a72374a2b04 phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12D infores:phenopacket-store PMID:23099195 uuid:60c9e3da-240d-4af8-baca-4beb46884f1a phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12D infores:phenopacket-store PMID:23099195 uuid:7d06be11-a0cd-4451-8de7-75dd9c5989f1 phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8D infores:phenopacket-store PMID:23099195 uuid:1793f5bc-e1b2-411a-ab33-b4bfdbc66629 phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8D infores:phenopacket-store PMID:23099195 uuid:af447887-6872-4a44-bff6-28928cb38fc9 phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:d10b3073-913d-4005-a79e-9d7f851b953b phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation P8D infores:phenopacket-store PMID:23099195 uuid:1a4bdc7a-29c6-4bfa-8731-49791a1522c0 phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:367ee474-26b1-4ac9-9d98-391f4f5745f5 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0003217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:76edb169-bba3-423b-8666-b6a8a9eec9b2 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:0253c341-a6bd-4337-afc9-504c8fbc0238 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0005961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:1149945f-50a3-4f36-8808-023102383268 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:f401c1db-5a30-4d4d-8696-1c4c3936fabc phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:cc49e24d-bf3e-48a7-980b-845e98b04c83 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:506a7848-90fd-4307-9d4b-74d30d9e53e6 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:e862dde5-2885-4f4d-acb6-37c0230545ad phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23099195 uuid:ee7d16b6-2b4b-4a9c-a99e-0e7ca4616d94 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:23099195 uuid:a39de118-2616-4053-97c9-259e0c4f00b4 phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:0e856b97-8809-4c85-aab9-49d9869ad1cb phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:2a74a97c-735d-4ee6-a790-09ccad8200bf phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003235 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:23099195 uuid:c6ce1595-b19d-409e-965d-f9a058f689e2 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:028021c8-24f9-4f74-b134-77436854752a phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:a7bd8281-a3d6-4023-9029-eb3ed75714fb phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0005961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:330d1040-1dc0-4140-8473-3e46ff7a268f phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:f2ca0e07-6949-4d5f-8d3c-8a3bddfb9441 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:c049b298-9cff-4ac1-8e22-818b91538519 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:51c4bbda-b181-4047-af5e-63b4c2bbc9d6 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:1e3bc914-0679-46f1-8210-ea153a111d5e phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0012127 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:8d0a9247-92a6-4dd2-a86d-ba702d4890b2 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:85b51753-4c2c-4465-8159-894e47a0f971 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0410066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:aa01b0bb-6ef4-41ea-8d92-62c7c0b747b3 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0033409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:81cd4b13-6a6f-493f-b651-d9c823e89119 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0003159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:43a314fe-a03c-4e83-ab46-ffd9b378dbb8 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_phenotype HP:0034661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:23099195 uuid:54125601-25e0-4114-b3e5-5328728defb0 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:23099195 uuid:9a8c5448-c3a7-4229-97aa-8497d29eced2 phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:8073b06d-5924-415e-b1d7-a0409b7db4ee phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_phenotype HP:0011966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23099195 uuid:6a039f83-f0f5-403e-a47b-8c39ea82cfff phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_phenotype HP:0003218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23099195 uuid:49aaa9d9-a8fa-43e8-9ff5-f9c5da392c26 phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_disease OMIM:215700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:a36dfd66-4598-46fc-9ac4-931f4f909ba6 phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:has_gene HGNC:758 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23099195 uuid:fbe99792-9de8-477c-91f0-4bbcc2f051b3 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:c086563a-9556-4b09-9318-3e8cc3d916c0 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:1612c7f4-0f04-47e3-803b-5afe77f25aa7 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:31efb548-1796-480e-82e0-566040def8b6 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:325df322-f966-4d5b-8d46-8f612c91de7e phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:9be2e22e-8a95-4d5e-81a3-505da3451195 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:da11a15d-2dc6-4c92-8d0a-2fc11cdd084a phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:44283cf1-3abb-4298-bc81-f7728c28fc8e phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:5f0c0404-6010-460f-b566-866f3efc7b8d phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:9680ab8b-45c6-4180-ab6b-5bbadd421c11 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:039c505e-ab8a-4aca-81f7-610996c0ee98 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d23b4f14-3f71-4fe0-ac3e-c8ab7f2311a2 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:6cc8fbee-bf74-4936-b5cb-ec9a07a8d39d phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:9a81d1fb-7e6d-4e96-9c99-2ba03a83b72e phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:9336d4e9-ed5b-4682-833c-d17c8a5a86c4 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:7ce63836-f3e4-42ec-b070-b0492283300b phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:fa16df86-c12f-4b6e-858f-8a3981b7785f phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:bee95c2e-3916-461c-befc-75531d0ee1cc phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:687a4e0a-80f8-41f7-9830-38b15fa64139 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:28137957 uuid:2bb387fd-364f-45a9-81f8-498cde7ea861 phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:a87adfd0-c2be-4aee-9591-973d1c124963 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:36247900 uuid:721ebad6-fecd-4371-8e18-bd02407a89df phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:b011bcb8-1df5-45f9-b0ec-e3ab72d97e5a phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:b79cb104-9890-4dd2-90aa-a549126e1cf0 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:46976e0c-1338-47e0-819a-6d4bbb1194eb phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:5f4c4029-51d6-45b4-bf29-98925a262a1b phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:8252ee4b-2344-432b-80b7-ec66fbd61f0a phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:6c7f9793-71d6-430b-a817-105ca853f330 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:c73912a4-55c2-4aea-b758-39a06ad53325 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:8edc361a-3ed7-4267-a763-bf9cab6330ca phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36247900 uuid:83e5ce05-8e92-424f-bb35-205b192b7018 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36247900 uuid:c563e0f1-541f-4b1b-9d64-3ab26bfb9ed8 phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:36247900 uuid:dd957995-e689-4818-b065-9434d2c6304f phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36247900 uuid:ac286641-7569-47b9-881c-f6332e9c016f phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:40a96140-34ed-44a1-be6f-59797623585d phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:e60d962b-92e4-482a-8c52-a0f58993d20d phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:ed6a0f44-3d3c-4eb5-903c-ba35ce613a9e phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:c3f9a5d1-bc33-4af2-a070-8b43868f80b1 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:0387c7ef-0739-427e-80e0-5a7e3d331186 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:496e3412-87eb-4024-9e6b-835b061b6574 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:05d59f2f-4822-4225-a883-403d18d660f7 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:122667f5-9d96-4f69-bbc5-a9f8ac6d3f6e phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:5b65e54a-ece2-4847-bf10-2f0881bd3fe6 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:8303d964-165c-46ac-a9c4-a5f6afb90a0c phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:4d1422f5-984b-44b3-a566-b6f06496f348 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:e8807ec3-ec4e-4d8f-a9bd-e2cc3e43f50d phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:31944623 uuid:2d6b92d1-fbb2-40d3-a03c-8287728134f3 phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31944623 uuid:16142115-6700-48bf-9c55-9dd3a46c6ec8 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:f22f3711-334f-4c8a-9af2-807eb4aa533a phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:deffec82-9314-4402-9c90-807faaecc80a phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:f867d61c-d571-4dd5-90ca-f644b1a5a840 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:d6645157-2a95-4913-b070-154e20401f68 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:2e77eb53-6869-400d-ab2c-bde133873ce4 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:912bdc7d-c139-404f-b36c-d204864e884b phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:33a74ca5-c991-40a4-9f53-e9e731aba0a9 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:1d436cd0-e08e-41d2-8d92-249ff3c9efba phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:80015c17-0f45-4969-87af-5a40c842b4cb phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:dcdee24c-34b7-430a-adff-2d5ee5f0b5af phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:bfecf654-abe4-4866-bd3c-f6e4c799a1f7 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:4b600363-9d28-4bfa-ab51-422c6cd50ec3 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:0a06aeb2-5c46-4614-aac9-fc406dcac0b7 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:5fff4c57-1906-4eaf-abe9-d4b719dac655 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:1c5ce423-b0c1-4c3b-93b0-f1a9cbfdac06 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:7e76c1d2-a94f-40cd-8a87-f207f1452905 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:493fdf91-2068-4220-aa1a-11ceab19996e phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:166e7b17-be64-41f6-8d95-6235d310efca phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:f2fbd617-0639-493c-b708-ea77ad62a9c7 phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:28137957 uuid:ec7fba84-e9d0-468d-950b-7a4acfeb145e phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:6853b7d8-e1ab-4b69-85d8-983793661880 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:0ef85fd5-7346-4c75-a76b-0e5200c314ff phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:1b89fe8c-a919-4b6d-96d2-875574d5f34b phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:55cebb98-6ce4-4dba-875f-8e54faa9688c phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33862550 uuid:a5a2a6a1-6835-4377-88a0-9ba0956f7be0 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:b67fafae-0ba6-4601-9b2f-0fc0b9e3ab5c phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:10741824-ed20-4ee1-b0ed-a39408ec388a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:102a98bd-51bd-42cf-9009-e1fb2233362f phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:a1e05d4e-2b2d-4666-b4e0-3b4966957f8a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:34e5af54-f0a5-4e87-b0a5-04d9d7d57eae phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:2a0a7e47-1548-444f-99e3-30e01e63ad87 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:929095fa-08d4-4590-b483-5bb39eb43ae6 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:2f9c87fc-b16d-42ff-b2f8-83749c437d25 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:1a90c845-5cad-48c6-8747-9d3df09f6e1a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:5e9c359d-6c96-4b8a-a7af-6c2b0e22ce1a phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:ee6b8ba3-35ba-4008-919f-1371b9c4b73c phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:50ef26fc-09b6-4c70-84ad-a125fb004557 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:cdd8362d-ae8b-4ced-a38a-1448adc3d6cb phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:871046b6-7390-47cd-920a-524eddceb23d phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:5d136314-096f-4ffe-892c-230a864571e0 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33862550 uuid:e1f99207-5d37-44be-8231-664124f6bf87 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:33862550 uuid:9b2bb8a9-6bcf-4887-b5c1-bf976e38a7e0 phenopacket.store:ATP13A2.PMID_33862550_patient biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33862550 uuid:93340021-b057-465f-b693-deb24bda62cf phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:954e8cd0-15fe-48ac-a0c0-d1ac461fe572 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:a896ff02-6354-46a4-95dc-31c4bf84e258 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:d5323fcd-73f2-4536-9e82-4f76b2a02ac6 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:ca5c8487-e77f-482e-9ada-c7877b979523 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:5622f8a0-f7c5-4ad8-ba36-12d88b2a1318 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:434a30c4-fdaa-46cb-bec6-605418b7768f phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:d4b3ce71-485c-4f37-92fc-3290e8581168 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:4acdfc00-9320-4f82-b89c-bf4a60f81970 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:1357d89f-383a-4045-b935-4dfff0c56bff phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:601318a4-64d2-4264-9147-fadd1ee8790e phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:10555061-9d2c-4321-98e3-fdf82e31defb phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31944623 uuid:b9391173-e739-4d65-ae04-3d61f4f3faf3 phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:31944623 uuid:b64c5ad6-7e8c-4655-8214-27cdf5506aea phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31944623 uuid:35b3d8cf-3bc7-4d5f-99dc-9caf74860fd1 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:a2b572af-4f90-4915-840a-34a8758b10e6 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:0e836c80-3855-44ae-af7c-ee7572a27fca phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:fd2c53bc-5d9b-456d-9fc9-89e63d17a369 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:15dbc3fd-4145-4a70-aa53-ea83178beb56 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:e6f666bf-df36-4cf7-8f11-3f365645eb76 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:c34f9dec-b6dc-49b6-98b0-ceea57bd4e38 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:ab3ba10a-c8e5-464d-b905-1acf8d9cec4d phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:38252374 uuid:55d46383-0936-4126-9d6e-27d2d5996ab8 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:38252374 uuid:db65f173-98a4-465d-9aaa-8473ce7fd1e4 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38252374 uuid:607b4fdc-2319-4117-a39e-ed84af0f80ee phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38252374 uuid:3c955d03-ad8c-44c7-9721-4ab772811060 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38252374 uuid:701f934a-1800-43c3-b2d5-bc3c53768f56 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38252374 uuid:fbb04e52-b888-4622-8b88-11d88e180cdd phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38252374 uuid:91ee084d-da93-4628-8c02-41a0981723bc phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38252374 uuid:b73e93bf-c475-490b-90c0-03b2b9b26944 phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:38252374 uuid:132dd11a-0d18-4f6a-a9c9-111ba2c03d7f phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38252374 uuid:89073827-ca7a-4b0e-9345-cfcc06264ca5 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:d26bc5c4-cea7-46a5-9ba2-89f5caf8062d phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:8187700a-ad42-472e-a14a-88c7e4d262e0 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:7f0ed657-c31f-46ce-88a9-7d0f8d48caea phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:b2e0a7a2-612d-4c30-bd2c-ddc687724f7e phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:40d272f9-1202-4741-9126-cbb25014cabe phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:a68ef46d-cfe2-46c5-b5c7-fd740ada0219 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:a2e96442-22a4-472b-9089-17289694dfc5 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:5c0ca87e-1c3e-43ff-b1b2-8ecf7e6d0e1a phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:bc2a848e-eb15-4a90-9401-3d3f948fe3db phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:8742a619-fc8d-4d09-93ef-b32de342a47c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:551b06f2-b6cc-4ac7-93be-a1c722f4c5f6 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:344b7de3-546a-4efe-b754-79081bbbe2bf phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:47ae2b37-be19-4c3b-bf8d-d2266d8e9818 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:73a26cec-5b9c-4967-8ed9-e9cbe25c8a36 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a52c27b6-cab5-4e4b-b054-45d79e883189 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:002f1010-36c4-4bef-b4a6-f777f59d95d7 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:ec87ebdc-d3d2-4da4-b9d1-a1281ba024e6 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:91c74bb3-0cb8-495f-82e8-60e6f2e8dfe4 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:074ade6b-1e45-4c87-a4e7-11d730e0b37b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:28137957 uuid:89f059c2-bdf2-41ad-8e52-b8d4365a3573 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:24d88d42-4407-46b1-b40d-845f7c97270e phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:ac0c057d-6586-47a3-8f5e-0a6b4776bdf9 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:c4b757fc-cbc3-425f-b57e-7fc5613e184b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:a652d284-f254-46c1-937b-51ed1cb80438 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:d2c74ff9-b09f-480a-ba30-3906c01b6282 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:41a5a1ef-18ff-410c-9cc3-c40d735179ea phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:8a58c442-c169-4a65-ad6a-385836284274 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:56ca1d31-ca79-42c8-adcc-e8d42898433b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:178b878e-6a9b-43cb-bb5e-c6a60320677f phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d5201656-7be0-490d-abb6-8cff587bf10f phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a1c324e9-776f-42bb-bfbf-569b395b6121 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d394f12f-9237-4457-b14a-92d374600510 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:47380d91-f0af-434f-9106-6e70276f85fc phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:293d98eb-ded6-4312-8f93-2a53d7d76789 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:6c8a47fd-628b-4d02-be33-6a9faa2a3730 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:eb73a3f5-7a36-4b44-a78a-125b481c6d0c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d0c16736-cc81-42f0-b8fd-b14ed2cccd63 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:9513b29e-2eb1-469f-967e-a4c18839892d phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:982ef922-9645-439b-b2f2-5ae966f01b45 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a835ef25-91ac-408e-98ea-7faee70ab0d7 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:28137957 uuid:10bda2e7-0796-4ad8-aa36-369413522dc8 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:c3d91695-5dc6-4bba-b25b-9a808f2758a9 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:35e4e00c-75f8-4fd3-b75f-a78d46b81f12 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:38a8da8a-5831-4057-a7aa-a4342f775dd2 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:5e1179f8-e086-4870-b7bf-7c907fc46025 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:0a386b0b-d580-42fb-aa79-7fa6231ded71 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:3d1adffd-8856-4ae6-ba4a-b2d9f04aa4dc phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:1c8d7c68-c878-4d2f-9a9c-73cf255647ed phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:3de1bc91-0fd4-416e-831b-5a7d026a2bd6 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:e514ad6f-94cb-4ca8-a188-6d5c0d12b180 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:337c690a-af60-4d85-ad01-f688275e9174 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:39094c6a-422f-47c9-a61b-dbcee47124ff phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:8f3c9084-c654-4126-b2ea-c271804c462c phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:b7e97447-a636-4319-934f-cdf1f86afd4e phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_phenotype HP:0000746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31944623 uuid:2952fc3a-bc94-4cb4-9491-bc016e5cf8d4 phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:31944623 uuid:7efaa3de-3ab3-486a-9502-a4cd49022dcb phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31944623 uuid:3608df09-09e8-48a7-aba8-d3ee2a9b64fe phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:0963df1c-6b14-4a45-8cf0-81c7261df610 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:3a92b379-1b28-43aa-8e6f-1813fb773258 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:fa1f5b62-b1b8-4d6d-8927-67f3f530b1aa phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:ac9ee3d7-4570-4fb5-b8cc-3fa5204ec157 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:4c9abf17-3efe-48bf-8626-f852f77af43c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:7cc2f185-6e72-4091-8118-9e97a354cfa1 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:1ed8b8aa-ce2b-4695-b58e-85ff719862b0 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28137957 uuid:c44a66b8-3fe4-4c20-b909-6d83e5a9c631 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:f604a59e-21db-42dd-8c1f-962faf49c6ff phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:7ad57239-08ef-4828-814d-60d5c094830c phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:6d486cdb-fdef-429b-b7d5-484b209433d8 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:42241ffb-05f9-4b26-acb9-4ea3c8043c9f phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:a10d3253-67aa-40dd-b598-3e2eab02652d phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:69a017e5-3f11-41bc-9661-0e96a1fa5426 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:cfdd084d-8336-4f2e-a724-7bd325401800 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:70304a8e-19a4-4897-8a5f-51a203bd28e2 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:d580679a-3803-49d8-911e-98169bfea297 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:237c591e-4a1a-4201-b081-05dbe4813385 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28137957 uuid:4e653a6f-dba8-4414-a0f0-42ec47aa4c19 phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_disease OMIM:617225 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:28137957 uuid:2b244055-cea1-4136-aae8-57fc26b23e5b phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:has_gene HGNC:30213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28137957 uuid:312213f4-b218-4313-a867-3216ca3c3ed7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9015ed72-bc5e-4119-9ac9-4a55d434d579 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1a047c4f-cdb1-43b6-bb67-3a8044a7f86b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c5eecd90-ab6e-4001-97a8-38d2807ea2e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:195c5f12-dde2-40b6-ba51-7282dbbec1fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a0e712e8-6de4-4839-8495-be62b17dd06b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ec8fc9e7-3bc5-4460-9443-c1718f476c63 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:51d6b467-5c07-4817-8339-88406e55534e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0b0855c2-c3ff-40cb-bbc6-7c128ee665d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3ff90d8c-df4e-4e24-96a0-debe61fcde64 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:730333a1-8e34-4499-be4d-d65785a87d0f phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9420cca0-ee28-4991-aaf6-14d3102aa1bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f59d6a50-49f1-4b93-b3cf-59d137204b48 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:6b347de4-f454-4d7d-80d7-5611075995b3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:51803a8d-93bd-41f4-af05-e9f2160bfbd1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9f3c48b6-0b79-4689-8736-22193b860540 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:37363a55-7570-40f3-bbdd-1e0052cac336 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:458a17ff-8896-471d-b573-e4a711c1bf1c phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9a9c9f3e-c7cc-44b9-b77b-8e87081d845b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d8a24d2a-3e15-436a-aa9d-f00e7d4a662d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0143f89f-a4d0-4690-8aba-e4c344f317e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c25b66b9-be29-4d0b-82a8-77dfcd51b3f5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:04512759-bac2-48d0-a19a-081e80f5ad44 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:367ff55b-20a1-42d5-b7b6-88768cc5e0ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4874bb22-f54b-4a68-8945-bd498c8d128e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d677deec-81de-4f4c-b603-9a3c92b4b61a phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:59854b90-846f-470a-a250-221060a41439 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6d8971cc-a793-4ffe-b2be-934f2eca3ff7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:87b70f76-af85-4518-99b9-cd4d2322b821 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a969d2f4-a00e-4cf5-b5f5-34358c454df7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6db7dcdd-686a-4d0e-9362-017c35c3293d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e255731d-6d5c-4add-b0cd-cab2185861e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:881fc27e-27c3-439a-b786-0a685bb27282 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b84e43f1-d2c8-441e-bb35-248e632121a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:550b7060-2557-4e85-808b-66837430ec5e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d67b99f8-26cc-42a7-9b73-080b3a084884 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9744c365-b403-42b6-b3cf-c9e5bdc0cfa6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:40cf83a1-e9cb-4339-b2b9-26c4131d08d2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:107f89d7-6008-4b88-81f3-6a2f0b509c4a phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2004ee17-e19c-43a5-922b-750417dda9da phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2d2bb47d-bfbe-44d2-831d-6dc5dc7fa7b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ccd28cef-f3a0-456b-90d4-0698dd98c65b phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f06abd2a-4329-409c-b970-9d5b900daff9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e42302e-d355-4e31-8595-1dba977ed298 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2013380f-6751-4f8f-8a63-e0d3a936061d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:903ccba5-0649-4d4f-b248-066e03264dce phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:505aa5c6-ebb3-4294-b911-740ec6cbba76 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:58b41366-d5e7-4fbd-a0cd-b523cbf60638 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c3feb90-9b6c-40d7-81b6-930bff130734 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1483e7b9-dae5-4bae-ae62-c7fbb21f13cd phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:61baf8a3-667e-4cbf-90ee-17d47e36e8a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e6ad7cc0-09d6-42d5-a403-e60b9c42162e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c63d286b-031c-4fa3-9366-c1c40f86eaec phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:425f0d12-2150-4c91-aace-eaa8e558d04a phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:afd7a996-933f-4822-a2fe-8fbae1200039 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:16e0c01d-fff3-4085-b645-1154badbdb7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31cf9317-4f25-47a1-9458-7a5afbe11aeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0218537a-d766-479f-95f9-bd84182edfab phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b440c1ef-8587-4edd-9e08-44cdb6082604 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:96ead685-6643-4b72-bdd1-fb52c35fd323 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c1be9eeb-61e2-4ef2-82f4-795ed97625c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b45ae628-9e97-4219-ad57-ad8b04f3de22 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97f74998-b4b3-4c80-87e2-0841382d7450 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8a5c381a-a8f7-4c7b-9082-ccb7bb801934 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:000b79ad-b467-48fb-94f9-58c18880c7bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d28bbbe2-50f4-4fb4-aa80-5eb3fc69b074 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5cf1e714-c492-4c84-8bc7-3446d540216e phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7987d170-3908-4489-9cf5-896f8b1bb566 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ff8d6c7e-edd0-4b8b-b30c-4fb7b250af40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f3d66e0c-b7fd-4d71-8ef6-388645b23cc4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:36074901 uuid:b23011f8-fe44-42b7-978b-e17242a5d12f phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:a2570b67-aadd-450d-9a24-fff33e721079 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e2b3ab70-3b2a-4830-bd8c-20df23957039 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5be11d34-b469-40c9-8039-153e49f09df1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cfaa75bd-a8c8-4887-a61d-af77dbb54fd7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0aecef1e-0b45-40e2-b3a6-a6df25b284f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8ed24aeb-98f0-4d77-ba35-d9370273de81 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2671c17-5ef1-4a40-b19c-710e108ebb77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c1261f1a-85d0-4488-9dd3-95342062527c phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91e608cc-1887-4985-9ee8-7d558f953301 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:960682ac-1bc9-4ebe-a639-841a79afd1f8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5650d096-f7b2-402f-90b0-fb9a0d37d8f7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d86517b-620f-46ca-a28f-d5615c91f40c phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fab875f7-0180-415d-9ac6-218d63982790 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ae05467-e12e-423e-845b-98fa4ecc3006 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e2eb9401-1fc3-4fb2-a0ce-f11748f0d993 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ea92e24e-b1b9-454f-b4a4-8a48658a9dd2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:506e37dd-bab1-4dd0-85a2-2b4d0a8b5c15 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8522c6d4-f383-4068-8e21-31213e69bde4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:22a7e012-12ea-4673-86a4-be8b3f84c888 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed060875-9960-4e06-b7cb-e37bf82f49e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d51a17b2-df06-4c1e-80ee-40990a04055d phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2f3a298-ed40-4318-9b60-dc33ef6f28a8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b2f981a3-a76a-4e9b-87a8-a7a80f9c5db9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b271062-e6f4-49ce-a7d5-0a3d1742da7f phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a66c318a-fcc4-4874-b8bb-3010a15c96d1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8a78fb94-822f-4741-9be6-3d1a395521f5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a28ccf9e-bf66-485b-862d-b6d02f546802 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88da41c7-36ab-4300-b88a-932df2a5e0a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2145a5da-35db-48bd-a7a1-29cda2c1edc9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d09335cf-5283-447c-97a1-61d2a35b8100 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5481167b-5ad6-4c21-aa1c-318138d8c46b phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c29e3327-af23-49d8-be4b-7fd61008e780 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:432eb990-510a-44b1-ab27-d420a2e61d0a phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:23dddda5-eb58-4e79-9f4e-cb5529816635 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38db1798-b8a4-40c2-a27d-0b6769aa8e9b phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:026dea72-7c20-4fbb-9086-fe9768a53147 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:27b75a8b-1285-4373-97d7-48664ce2f473 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e354d535-f1ea-41fe-85f1-1fe2359b72e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:b1fb486d-01dc-403a-8e8a-e6fb44de72e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:dff02079-1ef5-4261-b958-7d09b703a442 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:edd2dafa-50c3-4614-a0c5-8d16ba00d4fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e622c463-7236-4a79-bdc7-8ff9cf65f399 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3d85041d-0100-4580-8cef-fc84c1b89eed phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2d3994ce-51f1-4a65-9eb8-3b4296f4b321 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c34ebdfc-b65c-4064-b212-c18f1b09e9db phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:739e6e15-a790-4075-94b7-21c155676218 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c1611e78-012d-43cf-b8e3-9fa00f7e1af9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cb426032-4b39-4954-9b49-941e0582ac47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b3165f2d-5a16-4c1b-b0db-779c33521638 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:17022e3f-9372-4ce1-b6e3-d62e43df40cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7364e65e-0242-4756-a4dc-680008ae797d phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3dd36ff4-f90f-4843-8395-98c6073b8eba phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d1fc657-479d-458a-9bf9-6dd925af4d3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7737f8be-fbd7-4489-9aad-45c8295b7dd9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fb10995d-c7e1-45ea-a95f-a26f9c22a418 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1a36732e-6b3f-452d-95b4-88c85988a170 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ec28e4c-5e03-4e5f-987b-f9b0f16f3f30 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:51d11d06-6db0-422b-bb47-1762f8d8babc phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5b4c294a-27c6-4e5c-9586-ef3eae931026 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14d6a411-f5c3-41fa-9c55-045cf1cd3aab phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce520fdd-11cf-4076-a889-4ae25998c425 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ae1996fe-fb6d-4265-8a4a-ef9c828cae93 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:32a71f5d-04d6-43dd-b64c-c2e5644cecde phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c62731f-12db-4eaf-bf07-6355b0ff12fd phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:85f43722-0232-4557-a0a0-a713d22285f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:03ecc6d3-046c-40e4-9ef5-65c2e2195f48 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7b306cf8-5b2f-4e00-8ee3-5329f837908d phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8ee611c6-115b-45f2-8e1a-993fc56f95df phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cec8463d-77fd-4527-83fd-9f329295fd46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d4ac5316-9511-4087-b1f3-2ffa35df4a62 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ff9a5b7-8c41-48d4-b1a8-0fd3f6c9e6c1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:83b88995-e15a-4e66-8f6b-c505c70c1ded phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:62e1d48d-c143-4312-b3d4-ea8c5defc514 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:25032e47-ae86-4027-abe5-7a5af93d7a0e phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:61607ba8-64a9-4fc0-95b6-9c1274c2ecf1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:179afb66-6f8f-4f0c-80e8-ecb3ce3ffbba phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:22f5fc7f-176e-4f2c-a22f-4a0e503b4a52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ceab56e-07f3-4538-a57f-ba7d6ad9d947 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9ae53ba7-4495-4664-8532-214531256318 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8643b678-e964-4963-a98a-4abb763d4a5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:90f26b85-9e8a-46a6-912f-41fd25218445 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:45e07019-583d-4fae-b1b2-53844437c7bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:52008242-1cfd-4169-918d-ba819c01e25c phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:740ead51-53f3-4134-9ca7-b27664bd9d55 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:488244f1-ab10-4bbe-a8fe-d38fc4940aa8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed15b6a8-990f-48f8-b594-64109afd5db9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e4a3a869-a115-47f1-99fb-c604d0575db2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:821e2efe-85d7-4ebf-aec3-d58e4242607c phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:db10aca5-8778-4bb0-a523-da50fe5d5cec phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6833224d-29d3-4cf1-9563-fe0099ba6d9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0cda9c3-ab3b-4cf6-a7be-32e5f040ed33 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a81dcdb3-ca34-4d1d-94cb-ceb38648ef4a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ad8637c-fa59-4ad6-8414-8407a33c3737 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:987023fa-716d-49e3-992c-02fd507659e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14c73c9d-1725-4a30-b5b0-fd734177180f phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fa7a31bb-3eaf-406f-96c9-b13e6378abd8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ac2b74c-8488-48cc-9cca-402414c0303a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c7df3f72-d36b-4ff4-8f59-627d7d05e4fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1e63bfc8-9f7f-4d4e-b42a-489cdf951e2a phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:28131f9e-ab9f-494b-9c73-01026882ec51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:68e94528-f918-47db-b042-2893a8ac07aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:12ecf944-728f-4b59-a017-5f6e4e26f7e8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5061a404-504e-4e33-afa1-3444bf8522ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:36074901 uuid:c77ccfb3-f122-4bdf-966f-8615274c1145 phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:fb3e7f17-a284-453a-ba18-121a8f75b9d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:392c50fe-7e1d-4232-a383-36b2666f961e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:41e01dec-4909-4b8e-8eb9-d3ed051c8db7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bcea522a-9995-4220-addd-fd73a69bad3b phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b8538c7e-612f-4213-984e-655782fe4aa7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:745b63c3-8867-4f32-bda8-e2ab40d7268e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a41a24c6-79c1-4012-bcba-12109fbc1c32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:54f69c82-0cde-47b1-a2e1-7f39863e2cdf phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d1bc794d-f689-4a6a-b77e-ed9ad803d4b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:795fac53-d7fa-4258-9af9-73af9419f5e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dfece396-020f-49b6-961d-b048343f45cd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ec0e1307-a776-478c-a58c-4021d35b111f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14d2d3dd-4980-405f-8359-e886b64b901e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:25027351-7e4e-4b29-bf62-2bb558b1947e phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f8c5c795-ec50-42df-b3ea-69ee034b8657 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:145d4ccf-d4fb-46e3-af77-ade4a4479e7f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:16c00b37-ee0b-4e36-854d-b7e8ab65fe56 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1bcef4f6-3438-488a-b0be-9bf221f77293 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c47abeac-6ebf-4ef2-9e55-edee5667b72d phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ef03a89-5f10-4471-9d46-06e8767bd64d phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5fb7e4ca-9e9a-4cf6-8411-1169e8115d51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:284fc84a-e271-4981-94cf-fdd6654268fd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:242b333f-8620-4bab-ac37-f27004fc9cf6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:87da3c62-6d90-47d5-afea-d4508feaf8d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72e3e493-d7bc-4874-be3b-a6f7b67c4dba phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:960a2f24-f45d-4acb-96fe-94e83ed3fed4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ecee715-eeae-4033-adc1-01db9154aadd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37842acd-e757-4c08-83d9-a55dc060dc5f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ffaf15b8-912d-445f-b949-69378db14627 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abca8fda-fae9-46c9-a31c-26e9cf98c616 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ffedf2a2-3970-48db-a186-6056a81b0343 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31b31c14-7caa-4a85-b437-f47749b6c7f1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:819059a8-2b1a-4882-86f5-e71754a4e35c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:646b8d14-6f05-429a-91f8-8aff9fa2a44b phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a4b19acc-81db-43ed-b90f-5e19ebc5d016 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37211148-3b68-473f-91aa-3bcb7fe101cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:89351e6c-633f-4389-9e9e-11f3049fecf4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31f9e250-72a6-4a67-9248-4eac2443ddbd phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0fd119e6-059a-4755-b4f7-b345976b492a phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:faf1d2a3-c76c-463f-9d0b-0c6bcb32defe phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7c138055-9d95-4ed8-8492-d60cde36a046 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fd03c49f-9198-4198-9720-f7f79c84990d phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e7fab94f-9c49-49bf-bba2-70fe90bcfc9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:655a22d1-5b6d-4b38-8fd0-2fccd383cc17 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:052be583-5ead-479c-a543-004bcc861177 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1b7b90bd-81bc-4bbd-ba76-94e359fa6a4b phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1875f9cd-36b1-46ad-99af-4c8406320185 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d02d9826-7999-411a-b470-74f0aaf99df9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2aedfb50-92a1-4b18-9a47-156e17307064 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:92e4fae0-653e-401c-9e88-fc0e22ef3d2c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:15ced86b-41b8-452a-8dc4-ae89840fd83c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac53c5a7-9ef3-46f8-9a31-2be83afe6198 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c728029d-0d22-434c-a37c-5c4cb50c1c34 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72dbbb94-6ebc-4f49-8226-b0f811d0f536 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d32755b-3026-435b-b87c-e5ffdb5a7a8c phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:effc9c62-ba83-4972-8f27-93b15ab7ca52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d8a4fe65-a48e-4215-9bd9-4adece28a7d5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1a7ee9fc-fada-451b-8de8-f3887f3a9cff phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7414fa8f-6dc6-4e07-b2d9-06bdc60489af phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:996e22de-4a68-4043-afcc-52de512c373f phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:db49555b-01d2-489f-881d-5116d4a97826 phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:931980b0-508e-42ed-ba72-08be6edfb1d6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37161035 uuid:5d10971a-e865-46ee-9459-27dc25f62a01 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37161035 uuid:7029d6d9-4c51-4ec8-a261-6b1fb1bfa86d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37161035 uuid:44423eb5-ba90-4d93-b51c-cfe1b0d08de0 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:cd39a1bc-6e3c-4e4b-ae95-2425c47e7a59 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:d53a0b5e-40d5-4e95-bfdb-f4e770a24a67 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:1669f388-a07e-4e52-a9e5-8879cbb3aa8d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:0988fedb-bea6-4262-a452-28d31783bf7f phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:3e1938d1-e20a-4af2-bdad-05c628e3ae59 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:acec017d-9cbe-4af9-bfda-bb41762b779a phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:7fe760b6-27f5-4079-80fc-d6bf0c6e42b6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:68b002e9-2bd2-4836-9b77-a3fd92d21eed phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:1cc4aa68-e5b2-4590-a908-cfa2596c6919 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:fd5f8ed3-9846-43eb-b72e-4768ced3fa6d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:6eafbb86-c9c5-4cd8-b949-663cec6eb37b phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:c0aa5ddd-a506-4bfe-85d5-da2609470041 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:6472d9a6-ea53-489e-b2da-bd22cc346c49 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:c8b1aee6-12ce-4d52-8813-7ec70e7d654d phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37161035 uuid:3b2ce818-c610-4ebc-9fe0-c72346ccead9 phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37161035 uuid:0f8ae139-be64-4839-9889-c03c9fb99e08 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:03f6572b-aa46-4178-8bdd-cfdf5e15fa09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:64f8840e-921b-485e-8848-6d75008d4012 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c2aaa3c0-9719-4ad0-9bc8-d66eee99702c phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7d3fcb90-8128-49c3-ac12-256aa66aaa5c phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:97062e41-4a5c-422e-9bb5-5aff645fcf95 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:10d8ff01-75ec-4e0c-9f50-af95cf82be46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9d31b88d-1de3-433e-bbf0-0ba8134b307f phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:68ef92f5-7b1c-4d2c-aac5-616a335d7776 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:de29c162-7020-4725-9df9-1a4f90290875 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b3c5bea3-a2ba-4e20-9853-a54d4678dcde phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:99228c39-31ed-4383-b10a-0be57f5c9caa phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a36cbb1-06ba-4fb4-b78f-abd5c39c21d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91089b31-4d9c-445a-8b22-f93d1ac56c36 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bee02877-adfc-4a7e-9c36-ddbb0fa8a061 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66a9c74c-5d69-419d-bed7-00ba915d7f79 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b96d8a9b-1d9d-40ee-acb7-7457071b623d phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3e816085-381d-4e18-a089-d0efde740963 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:71d03c4f-ca16-43f1-8f41-f03a38eb5f90 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ad882e1a-58ab-4a4d-8216-dea21b8443df phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e57a7285-0004-4572-95cd-0198bc6631af phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e360342a-271e-4c69-b3db-ffa0ef96a6f3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70796c21-f1a3-45cb-86e9-00ae39512ede phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:83ad0d3f-20d6-4e02-8020-f58076195a39 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e70a0729-cee4-4b17-8800-86894bbf9ab4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:36074901 uuid:77e0f5e4-1757-444e-8c1b-26e72db8049d phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:a130b38c-c7b3-48f8-b6df-e9395d61177b phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d8e05e65-582b-4d6d-a2ed-469e24b0efe4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:05f70ef2-ff01-4667-bf6e-a669807b13cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:57144dad-a9a2-467f-ae7f-55bb00ac6fed phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:59f0f308-b275-4a09-8be0-c505cefe4c00 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3bbaeb92-d3d7-45dd-a0c1-d8effa513329 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:06ab0a0d-89dc-4d45-9c6b-a42b6880f85c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c94d44f0-f5bb-4bba-843f-67cf49bd6454 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ed701b0e-d9a9-407b-8adf-4add9824aeac phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:62a17ade-ac41-4858-9084-04f645f49d96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7e3a9440-81e6-485a-91b4-4568e985e484 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:44e779d3-f5d9-4c51-b3f0-5275daa6f465 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a6bb37a0-abb0-4b54-b8fe-9d10a0e8d83d phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bc65d6b6-504d-4d78-8ec1-aa4d504428f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9ef936f1-98b4-480b-8b7f-a88ed7880c13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38f66bf8-9c21-4c2e-a6cb-7b99d93b101a phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:25500617-5c9d-41a9-a2cf-f74ad2ddc2e9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:636d148d-ced7-4f13-90bd-a4f9ac18cfaa phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa6d2b55-8091-4549-bcae-a3c27a6f5672 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b63e2a8f-fb76-46f6-b0a7-be1fcd80bec7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a09a7ca-bf86-41fa-b41e-608826952fa2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a4536dc3-7d42-48d4-accd-f143dc248eaa phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8abc16ef-2ebf-43b3-a882-106cc7382ae0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af0ec059-0c46-4e65-9b55-ee66ca18000c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34641bf8-daa0-46f7-80f0-ba852b503178 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2edb2a14-b82e-4b6f-9878-e27746972727 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9e9cf82a-90be-40ec-bbd8-a5f921a6b126 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:107cb3a1-3e3a-4d6b-8f1a-726aade8832d phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:56f32901-d700-4b27-b0e5-1f5e280bd0fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:774d067e-9ac9-4e03-94c1-9adbd76326e9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a4d190d-ff1c-433b-b752-9e89db5f347a phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac5348c0-0251-4c3b-a067-3e39cc80e6f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:651d5e6e-afd7-4679-946c-b976cbbff6ce phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a09bda82-863d-4338-a4fb-27705abdb4ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fde8d42d-bad5-4e19-9648-947e8d299492 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6693bfd3-7a89-4966-99b2-e71b5cdbf2bd phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1c63284f-3750-404f-aaba-46e86c7f972e phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a50195f-bad0-4116-8335-6753d0fbf35b phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7798d109-be0a-47fe-9a26-dc28277664b8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:725c3e1a-e584-4911-8b09-98e53fb73358 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:538a0874-c858-4b5b-b6a3-1e50ed54d541 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:688bbb02-7b3c-4c4c-9281-f63c29f9bf8c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2edc4ce4-4699-4990-9ba4-f5649fe0e5b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb3f6b7e-4d82-473d-8623-9bccc11360d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fd1f15b5-c8f2-4b44-ae36-d700ce19e23e phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8f3a06c1-d255-4d22-8492-e3c0f89045df phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a5a8e7ff-00a5-49f3-8ea5-6863dc7f4bfe phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:837d1541-8816-4f44-b06e-623bf8f6c2b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d66cbd71-8436-4c71-807e-eac42c48310a phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:62b955c3-b94c-41da-b93f-6016c80c85c2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9fd5cd63-924a-408b-a5ab-89e2046a7d13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce623fe7-8186-4ca1-9f0e-b39b8d5a766c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:061eb6ee-e49a-4665-8b1c-edcad50657dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c432ba61-de66-4e29-85ce-6673c4816aa1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b66ab97-a7b6-4e1b-96b3-9f0915785b34 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:55d4f3ff-70f1-4f49-be5b-a394ffbb5f0c phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cff883db-7d9c-4173-b59b-4fcd489d8f7e phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5fa410ce-4066-495f-a759-17273487fc60 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e899dcaa-19ee-4d80-9a74-1ff4812674a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4da60d4-e111-46a9-9fe7-784583a45547 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:099db660-cf84-41e6-825a-f019558b6ae2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f860b3f4-10f4-463e-9b14-ef47759a37a8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f320a0f4-b575-4416-a9f6-e2fe96c51d9b phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fac4a588-2f05-473a-88fc-0ea1e7adcbde phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b70ac79e-f41a-4187-bc1f-14d2a8789727 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aad5c832-80ce-4c22-ad84-823436151fdc phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7c12bd74-0ba2-461b-ba2a-66b3f96519cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36074901 uuid:19025410-5088-4b7e-929a-d9d81b982820 phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:ce78ff47-b696-47be-896e-b652ef0d87aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:29601f13-4f1f-4cba-9d39-3dc83e1a6711 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f9d10eec-a923-400f-a40f-41c83f8360a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:25d4947a-1bf7-40bf-82b3-87fe37328746 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b72a7668-f82d-4e69-8923-cf6b659408fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e984f315-d2a4-455a-acfb-96fbc3342785 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c568d6a7-8158-4a0c-bb64-b99073c5a76a phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fd3bbad0-6343-4f60-8730-cb98256d07e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1272e6f2-fc41-4085-bc7a-74aec2443667 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8d1a6c48-3fc9-4bec-86e0-320e80b3bacb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:14e63c9e-93b7-461e-aa8d-eed0e4953d13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a49dbd9c-6df0-49e6-9fa5-4473279ac2e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8c3905d7-222b-4291-84c4-13fe729f5de2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cdcf7b2c-1774-4083-8062-3fa04a5296a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ebf3902e-c06f-464f-9813-6728d8850bbf phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8df3a64a-ab91-499f-9f31-394b9da37d0d phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4fd294b-156a-426c-b517-34e5423ef709 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a8101a1-e605-4ddf-98d4-f11805b4aa9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5e99a1fb-ea19-4a0e-82d1-72e604b9feeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a3ead523-ec0f-4a67-b1ce-863c9da5b2cb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1f730416-93b8-47d9-9a40-3b2fc09bc5cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2fe2f79a-d5c1-4428-8a02-0f665fd3f7f3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e7dd0b3-396e-4679-8d60-249260848761 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc7ced30-670f-4f32-8a2c-f17384b5f201 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:152a1dd3-eccc-457d-add7-e978e6c36b83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d21ea7b1-999b-4a29-b4d4-9a986a755b09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dca0e7aa-132b-4306-a552-2d90b956929c phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d67c730-e0ab-4be1-adbc-e183b3cb39ef phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:89701c3f-bc5c-4f39-9da0-eee48cbf86a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:00b7e2ea-a86e-42a2-86ca-48c792f8e9dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:58fdcd40-4134-4504-806b-020941623dcb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ea371d02-6866-4621-8926-34d5b38156d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:da204052-7a42-41aa-926f-fa93b365b834 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a41453f6-91ac-4766-b1f8-72387252b313 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e99c16da-6418-4ac7-8626-861514f29cf7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b7ac79f-3c4a-42b2-ad9d-59047abd0f91 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9a6f4f8-0701-47aa-ba35-802b306298c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ff45f04c-f1ee-4363-a13a-740db2c90e47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2d35eacd-0f37-4671-8c0a-1d2b0c0d6ad6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:73f2a632-00dc-44ec-9037-5a9305adc66e phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7f9700bc-853a-469d-89ae-16634ba3d330 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6de26550-4153-4f23-8c0a-17aedd796375 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84c1258c-5478-4e6c-b35f-b5ce23103ee4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14ec3890-648b-4cce-a1b0-61ebafb68471 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ca08d51e-1328-4676-af65-495b2745da49 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f10a981-069b-4555-8368-becd85238286 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb4a7ed8-c585-4731-8c9f-0596c68fffc7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce64d554-80c5-4150-b355-f8e530069f7a phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dc786972-4de8-486e-b664-fb7793063fc6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb30d9f1-99e1-4f09-a405-bfd2a241ee33 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b9aac435-ed13-4433-92db-4dd4f2076028 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d3dbcc88-038b-45fc-8d0d-7d427ee6c5c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0841f52b-1adc-48ec-91a0-7ec32905ae13 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b69eaf2-83ed-480e-96cb-40de8beaabf4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dc498303-420e-4ebc-83ad-44b4238c06fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a6183ba-907f-4d38-99de-82cde05e3901 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:087f6120-34d3-4276-b34a-0c8a35d39ff0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d3891693-83d8-4ed8-8f84-9c3097fb25d2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ba5fd148-9868-4826-9fca-b07495bb1409 phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36074901 uuid:acfce3d2-770c-49fa-b409-7e95c0f5248d phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:51a46148-0068-4935-9ab0-1aa5db645981 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:02a567b7-6df6-4364-96c7-bea0f09ad8aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f283cba7-6b8a-46e9-a41a-72a3c574363d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cefbf17c-4130-4307-a56c-f93ba9d03d59 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f5d82013-f3ec-4a9b-a1fe-eefad41a65fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:4e2694f9-64db-4d60-a35e-fdb760b98411 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:de448f25-4bd3-4769-b0f0-cf2ba96a7fa0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f46fa8bb-1d68-4ef1-9846-06651657b796 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:79af6c5a-ac85-4ae1-ba9f-35325aff45eb phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ed9d6630-eeca-413a-a25d-769a14d7d980 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c39be500-a45b-4ecc-9de4-11ce5eb855c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5b19018c-7402-4dcb-8e2a-56a46efd86c8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6f7c6abf-5fde-4cfc-a51b-b83d6b343013 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:806c6198-d008-4497-9c3e-afa3d3b7ae4d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2281731d-68d3-495b-a754-b30fe88fe16a phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7bc43675-cf20-4243-b980-847c05c2a262 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3363ba30-5c7a-484c-a0f1-75a0ac2e148c phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b9f1244-fb4d-4b84-8e05-6c6207245c32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:727b4e92-f32c-4706-b899-207361dec1ed phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:319c4e63-19f1-4915-8351-4ad3a8c3e074 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9be7ea89-a03f-4ffb-ad1c-7f97f1cb28a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f32bbd38-debb-454e-8f3b-1bc8989ac49c phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c20d65fd-6b94-4c2a-b074-06b39b400b83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02011533-e2c3-452c-9ef8-21d605a8f0a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:325393d6-77fc-4b07-ad43-3e7af1d5ffac phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02f2a0a2-6631-4588-9ac7-a95112a86fcd phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1deb2fa-4f04-4055-a3f3-d2c0b4baa0a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:770933e0-2060-4427-bd29-2ded55c08300 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:843f7802-f68f-465b-bd1c-77319fb42a7b phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ddfde666-cff5-4751-a035-cb58c6085e46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9805f1a6-5092-4954-9255-8d5ee7ed2282 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:124173e3-7c01-4f5e-9e46-66335f4500da phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac2864d5-a09e-4c48-8444-8aa4728ac1ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d871681b-5d35-44b2-8eac-3f39d155d25a phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:36bc7a50-a5c6-48fd-a582-01c510fed0d2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8471325e-dae3-4aa0-b8d8-6ce94e85be47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4afc4f58-688a-4d03-98a3-b86465e3c983 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a703d17d-b171-4ba1-8a2d-faa5bc90cc4f phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ccaa1321-f9a3-4d42-be38-5c2f53b5c835 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5e30a784-1539-4663-aaef-12a14822ee7e phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4012951a-4775-42bd-b398-216dff20094b phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:44b0b5ba-2270-4fbd-b12e-851330d92b5f phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2a49fde1-2c38-4145-92c9-8db2329b72b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b250ccf-06d8-490e-910e-1c023892ecd0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:93b1851d-18dd-44ee-93ac-ed48e9e64d77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dcb708a2-c5db-4ca7-af03-5a74514d18ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:be7183f3-fbd7-445a-9fc5-8426f656915d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8a12db71-39fc-4089-b785-63cff4e67e7a phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a548043-2777-4884-8191-a0b3df81fbf6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6bca578f-0f37-4ca8-8fb8-417b40a51a68 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:663c10da-0f80-408b-8b54-0acbe2dc26df phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4b060c4d-224f-4ed9-b89e-fcbf9a9aafc7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f32d92ac-eed6-421c-82c5-378d24b8ea8d phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36074901 uuid:7963011a-6a95-4734-8133-d88ef6daf5ae phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:9aca6d6b-6d77-4203-9876-d65ffbb99375 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f637e576-a1d4-48a0-90df-a54bda2c2ab8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:4aec7aea-6b1b-4f4d-b391-54d0d9750be6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1e27c18b-300d-4e84-bbc1-fd8463996e77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fbfa4447-0736-4c78-be67-9f9104c4a69f phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e43850f7-741c-4344-a300-f8939ef53aa3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c9cfe64-714e-47f6-ad59-24f90bbe298a phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5660c5aa-08ff-4d62-9ac5-abfb4734e8a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88eea957-a867-417f-8047-8966e9afec1d phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1fc47d78-76fa-4ea7-a23e-75bce799154d phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b966c80-35fe-4eb3-b109-3e4628f131f6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:774e94d7-85a5-490b-81c1-c9854ce68515 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7b1319e2-d975-4aef-b292-b7499d9b49b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:43234452-2319-4e36-881b-f58b11fc95ba phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:26d63ec3-8afd-4a77-8b09-71815f7e3f07 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fed0cb17-ee68-49a9-a56f-75bb18107952 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d8c4279-b1ab-425a-9e38-184a2b491f51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6bb7de9-9862-48bf-8c75-05abc245a1b3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b7dfd715-f868-4617-8932-caeda72231fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:beda9db6-d860-442c-97a6-5883dcb4f8cf phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b29fb7ae-bf1e-460e-aa93-6caaba62fd87 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdc26cb2-e668-44e1-a6d5-d3cb9f8546e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d02e11cd-fe37-468f-b4f9-b51298c64b86 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70141bcf-091a-4a97-9e8b-ff79342679ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f58a31d4-baa3-485d-b453-3118f3d40a01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d392e7f7-1652-4451-b3c4-30996cb4d2de phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4bb5d4c8-3f26-4a69-832e-a178e4d12a2b phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:501a9473-f254-48f0-8332-2e0c003a0e3a phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d9ac38a3-20bb-4f74-b87e-15dc9e5235e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b50133c0-89c5-470e-8440-9a807a619fb4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6df800e0-c982-4d90-a834-f67cf2069e41 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88111c5c-aa22-4ee6-9f17-fc8269634db6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:be640071-0c21-486c-9f47-be14cc6d834e phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fb8c1fd5-6d8f-4970-8798-521c3dcc5a2e phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:1125cbc9-16bd-45fc-a30a-bd495487267f phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:3853ccdb-b1ed-45d6-8664-cdc2c7216b6b phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:158f8d80-a8b8-40c2-ba5a-36a33a8d97d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e85c36e1-88c4-4e46-bc0c-3b333e119c03 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0419c98f-b9ac-4fe9-a00c-5ba30c675753 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:44f4f1fc-2487-412e-b26f-e5d0028b2464 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3e36a1e4-974c-490e-9aef-40b771b3ed7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:06e58b64-a274-4545-9301-c9b62fcbc1e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4dfb4b88-34cc-41d9-a893-c791083087f7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2f7faa3-4ace-4460-ab26-f0feb4c7cec5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4977aba3-c53f-4307-a18a-7864d2080324 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7fcca859-1060-43da-8040-9e477cd0fe98 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2a2c8fe-180a-4e02-9b17-cfc528549ecf phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed73d680-970c-4d15-b5de-42d6596cf37b phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f355b97f-124a-4e48-893f-c60db39a0fde phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3536a29e-68cf-43f3-ab60-dcb9852edc44 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4e2ea50c-0d21-420f-870c-8e39769c501c phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:73ef5279-e394-4f33-8840-be75b65098fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1b0c2a57-ed0b-4082-aaa5-f1ee12e91cf1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36074901 uuid:89fa8df2-d40f-409b-a50e-d1dd4432401c phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:6b285126-df41-488a-8578-269305632823 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f57f0922-3ecb-401c-9195-44e96ac21e0b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fefc31bf-1902-4025-acc1-c5d3c12ae0d3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5e937aac-24e8-43a2-9533-729b27da8c3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:13fd1b69-42cb-48bd-b3ac-ab7de883b3e7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3905e5a6-081b-46cc-8ea6-23756ec47640 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3dc144c2-9c23-4ae8-b100-8b74dd0a4903 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f36c1027-5e49-4a24-9e48-09ddd0e9aab3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:4d611149-188c-421c-a4e2-e6aa64b9d3a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bb03f18d-ffb6-4a7a-872e-695e2936da05 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b33c72d9-ae58-4ad7-addf-45747e258ab9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f00d5044-891e-45d9-9135-1174cbf0bf8e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2e217c12-77a4-4c05-be88-d1c3416706e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:96d97445-e83c-40a5-8e99-f486d19880d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0e3ec2e0-fd10-43da-9baa-746ac20a24c5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:51c0ac7d-1bd7-4691-b6ce-5339bb590fc0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8551001b-00f4-4d9d-b51f-9346558f9469 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:daae5017-3dc5-4a23-9346-eeb249cfc176 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14e72b9c-7888-4c55-8824-c721e4472241 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:77fa974f-2588-4075-a025-e8cc5fd7b1af phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e9d14779-8e53-4842-bb9c-599a8da76cff phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:46a36b3e-6af6-4048-80b5-688be98c6b40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:95fa4b94-4e58-421d-8876-11a6d398fac4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a965b960-b245-4360-9ce2-b876ed44ce17 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:95ec2cf1-6b57-4797-acd2-badf739cb68a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:35b66fb0-8567-4983-8562-a0f4997107ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f076817-9a75-4c7a-affa-4e60dfefc10c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:80add15b-27bd-4796-a92b-1d7f88bcc45d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:782c7e6c-96f1-41a6-9cd5-27d91d72bb5d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:18c2276c-d96a-4822-aee8-ad1856f90977 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdc2fbcc-24ee-4c49-84f3-d24dc1818c7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:62bea6bd-018a-40d8-b3ad-73e665141057 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b1368ff-0b65-4d8b-b521-420699c8db52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8431b824-9845-40f2-a3aa-856356323f8b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:94809f0a-e606-4709-9ce6-fd1d17d6d9db phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b26fb747-b8b2-4e06-ace4-1fc57396aacd phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6c5bc6c-5c7c-4c56-9e85-7b8497667c8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:14e6fee1-bd97-409a-99b8-52dc1e27d2ee phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5121df84-51ce-46d1-a859-8188f86470e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:18eec125-b559-4fe0-8a7c-647f1b467a33 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a5f40d3-36fe-4dbd-b03e-5062279537d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dfb72f47-84dd-43d0-8768-7739e4191710 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:30e5b5d2-293d-4a3e-860f-74d00ec0117a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:43942841-5fa8-40cc-aadd-468e389e8b99 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:23a23dcc-ac88-4f6c-8401-5ea264ad1ed3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:75c42468-8937-4d91-9e57-14fbb71e8350 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b3770641-c63c-4f78-846a-632b38f0158b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6ea6307-e723-493f-a62b-086c9ee3f7f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e60b742-e906-4704-9764-7a83e2dad16c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4f8ff2ae-d892-4adc-abdf-34404cbec7bf phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7e0151d2-8676-4c48-ad18-5199c41f8e5e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2ce48ee8-8d3e-493d-8ac1-c2f2b8e3671e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b848168-1cbd-4011-a503-95b200ee47f1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7daa25f6-6c6e-4b99-9085-d2d63481d6a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5f0518e8-54f8-4f8a-a857-4abc5d764eb1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:23680e78-56d9-4bc1-83aa-2898f6922624 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:26c3a514-f24c-4cee-9f36-06000037c1e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b9f7c785-77d5-48cb-b3cb-75656a7c2a0e phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3e41e9a3-d7cc-45c4-9200-a1b174d695c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8667a078-4a4a-4770-b46c-2d4797c0d1bc phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b3c66ddb-291e-4c10-ba99-f98d15ddc25d phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fe761205-c186-4f1f-89c5-fd6938c7b9b9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84edb95a-286b-42e8-84d8-4ff0af53411c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7aa74c7f-1711-4a49-b61c-d44e9fdbdedd phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c2148c7d-74f4-4259-89c9-1e1ade73f1fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b50c84cc-2195-4fb7-911e-4b48eec11305 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3f159534-d1e2-442c-bc7b-0d76318e290a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9939ffe4-7d29-45ff-9a1a-b2411f82798a phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6d2139e4-716d-423b-85a2-7e84816360d5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c2eda901-a692-4bb1-a411-dfd7f4a0c27b phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:befb9919-3604-425a-9973-76611b3e646c phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e1fe3989-5598-4208-89ef-04c64f611306 phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36074901 uuid:5957d8b3-b76f-42f3-bd10-6af034f8cbca phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:c82f49cd-2ff6-4147-9027-b4fb1e5f03f5 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33190975 uuid:19104c5a-766d-4388-9f17-c9da5818ba35 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:33190975 uuid:c7ef6d8b-0fcc-4f88-9b1c-ed07606caa68 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:1139a83c-95fb-469a-9272-22b5ed4567a0 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:d9f6729a-78c7-4bb0-aae0-bd036aeeef7e phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:9bc50f24-50fc-4cfe-a647-ea6ef73d3b89 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:97132b58-bc9f-4106-a5c3-700470f4a910 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:9026e43f-3fba-4f1e-95a2-4e23be5c7775 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33190975 uuid:db65edb7-dcd0-40e1-8aac-58f9ee60551b phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:47e635a4-ba11-494f-9b81-59b6ca412b3c phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:df074188-58fb-4334-b852-46310667a31e phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:16d79b2a-1195-4e22-b481-44b93ef07388 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:bbac0717-2711-41f6-a145-192c7a97aa46 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:a4c4cac4-b47c-4826-aa12-e447d75a39a4 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:75c58d12-67cf-45a1-aa0a-5b8fbe7cd2a8 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:3a77518c-a2f5-4ae2-a311-ef9c451a948f phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:e30a4866-ab7c-4e27-951a-915f3ef8d7f6 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:194dcc66-0fa0-44c6-b952-73a098ecf74f phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:62eeba9e-f8d4-4cf7-958f-7053162a755c phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:00efb515-9203-4272-834a-8a8d7f582595 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:9d7a9ac2-5e4a-496c-9764-47d60b5545fd phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:dcfbe7ce-8da4-49c7-b554-096db10ea764 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:4b2502b3-0d79-4eef-bfe1-7e2bc60c6c18 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:622bade8-b754-49e8-ac2f-e3b1db6eb27d phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:5be14d6f-2feb-4556-aea8-af4791a8765b phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:320a6d71-0ced-49e8-8aa0-5625e566597c phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:d18eeea7-af5c-4b30-907e-2e114f0b8d20 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:fc097f18-d1ae-4bf0-b464-2d0fedf78428 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:d43b36d5-d20c-454d-a504-4ca44621ad0f phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:1134801f-9caf-4ca9-a7b3-23dcf47f4832 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:39e3cd67-0ff2-4e21-ab25-d5ff11c4b9ba phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:d56f8ff1-9b3e-4c9f-8c07-409a29b6afb6 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33190975 uuid:52e8c1e7-4efa-423e-b6d4-c368ddf729f7 phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:33190975 uuid:5212b9df-4e07-4dec-aaad-c2c9cb068cde phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33190975 uuid:1c9e8d6f-ba76-42f0-9e30-40d365a75784 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:935971e0-076e-469f-952b-9f58aa968df3 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:83607aa4-e72d-4218-afec-14af8cd4c9ba phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:43608818-6e58-4f1d-88f8-7a51000055ac phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:267b7241-5ac1-4395-b8bd-6ebadbfcbe56 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0f68c7ee-a91d-4b4d-8df6-16c1b447904b phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a674dfac-fd21-498e-b0c5-e67a9d66e825 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:3aea0a89-1390-4f64-b168-6a0334417e4f phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:5674977e-3692-4313-a33d-f2a280ffd019 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:d4c4ca94-9ae4-434a-a021-ba5e1d255e28 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0edd80b4-aede-4ee2-84f4-2117365b39ec phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:82a2e668-cef3-4f28-9814-b5fb29b94617 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b993576c-335d-488f-b9bf-90af34b7bb35 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:98ad1cc2-30c8-4390-a693-defd5ad84f42 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:3dfd7c87-133d-41f3-ba0a-29070ddd0451 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e53393ae-2d7d-4a5e-98e5-2ab4b9ab211d phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:11774158-0eb6-4642-a1c5-82b1d5ac352c phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f910c1ab-d4e8-4834-9a09-0aa690d9ee1f phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:51497d48-4b8e-4db0-81c4-3bf39375163b phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:22cbd50f-1eee-4639-8b34-48ff5450b815 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:35600075 uuid:e526bf93-04c9-4bb7-863c-09018dcf9fdf phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:0d0b199f-a87a-4f3b-9b9e-346eb1697947 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9e0e0df9-a2ad-441d-9180-1dc2af43a252 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:266f16a9-dcad-44c5-9d58-b34aeeacea32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:aa0084ae-f093-487a-aebd-6cd7a6aef031 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8f9a1fc9-f620-4b87-91e6-9853245b118c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5f59b58b-fa36-4413-9827-aed76605b9d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:96d9ce1c-7ca9-4b4d-b4f6-2a0410d3635a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5813cf71-c535-4355-9cd7-fe0d6f49846e phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ee100000-7569-4baa-a5f8-9c656c1e0e1a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:0f9813c0-317f-4f96-a344-9c6ac7cc8df3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:06e80d11-3206-440f-8a9c-f74b2781d260 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d962ce3d-123b-47a7-aedf-78c21c2bc57c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ea220e4b-7777-4e50-9ae3-f33a4c03bec1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:34d33e11-0675-4f1e-b717-2c07c64fba06 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c95780d5-9f12-4b34-819b-e6a8f4aeea16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e8027e33-41af-4fa8-905a-fb7381c97797 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d9ad532-4fd5-4f79-9c61-7a4efa74ba57 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d2a3865-b143-4da4-a89c-e67a8fe1f636 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:04e0340a-cfff-429d-8ce7-cd3712a5a77f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2db075ad-6da1-4484-8a17-a8476f63cc07 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3045acef-bb97-4a1b-ba6c-8a40fbb6208a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:972ff2ee-62d2-43cc-b5b6-c68220268d1b phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e7df12ae-ffac-4352-ac72-f21de03f69e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:56b7d43a-c5db-4ea9-8f31-15ae5b9dc61f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:41409eec-80d4-413d-902c-b78114b588f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f2970433-225a-47f1-91e8-9562bc7ce741 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:82724caa-8b5d-499f-8298-91f1c6808fb3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:563b6b1f-0c94-4902-9b99-5e0965c79028 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f96a5f4d-5db1-4017-9193-41a5006d2453 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f99ce15-a3c6-4cae-91e6-c01e6c3e42dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e3081d89-1010-4b33-80db-c24975a3dbd1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:41f16908-7618-4ae2-a0bb-24f36ec1e245 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48fb218a-baf8-4cc8-8cee-fb0e624b70d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:631808cf-a316-4896-bfd6-ba560aab684d phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:459b28d6-2707-4d60-862a-80d3641bd3d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:981a3bfa-618d-4a70-a97c-c294d81cfc9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d5b738c4-bea2-4322-b91a-c3611c5043c6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dae54255-a622-4054-844f-458411e757f8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c384b0ed-4874-4ab6-88e4-3b46f219b50c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c8de6dd1-dc0c-4955-99e3-959b34372830 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f5470063-9d6d-44f4-9967-5c4de4415efb phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4abee694-2452-4c72-a90a-59408e9fd3fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aeac239e-ea68-46b2-952b-9eb89703f5d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4f3b1a6f-95b8-4855-84e8-694128915a25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:170c1469-2fbc-42a5-93f4-d8a9491526e4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a58d96b1-2d54-41e1-ac24-87667d8f8e43 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:254a8815-926e-4c5b-a30d-fe565d30ff4c phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f498d79b-0adb-42a2-bb80-638eb9bcd059 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e5dd1d64-a909-4907-8325-38604a3a8ad4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c97103d3-ef53-4b8b-b597-eb2cdb431140 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:071cbe5f-9472-45ac-ac55-f35729e77b7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9355b00-3d26-417a-9658-948fd811505b phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e3444968-06f9-4472-befa-1fcd4171af84 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1fe52055-7162-4bac-9302-baf6e0fce844 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d7e3d197-36c8-49e2-9003-fdd3eb2dd5ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2219fd0d-c680-470a-9939-9dc0d8c0ea45 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b97f648-58c1-49ab-b530-6512324f97b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d958f00a-ff3b-466d-b449-3fd3c100a745 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:815b7fe3-3dd9-41cc-87a8-a4ee650ff0e4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2decfd0c-cf83-4ff5-a424-21f1a4d11883 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:99f91121-5a21-426b-ba58-b5564e9269d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4b1dd1f-c8b3-4f12-a3fe-85b0b05a5282 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ad6c017a-54f1-4dc3-b482-1f2a30098d9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:59d51e53-cf18-4639-99f2-31e7487dfc3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6dccea44-94f5-4bc5-bf91-0d9a730536b9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d1779f7b-3682-4ac0-9e5b-3a2bed229881 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c44f342c-993e-4ec6-a596-ed25a5592dc9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:131b208a-fb40-4441-b3f1-f338a98875a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b6ab8421-32d3-4ac8-a462-7605dba40ad5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a9220e1d-696d-47ee-9254-4b5506c6d542 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:956a30f5-7b93-4ba5-83e5-01fd2bba086f phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b081fe99-a0d4-46e8-b4de-19deaad22521 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:36074901 uuid:cd22d029-f20f-4961-8fa5-b8f38cbe9491 phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:1244800f-3599-4aca-9b14-83cbcd8df72c phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ae11f078-8a9b-40a7-9f2f-d3207424f0db phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1283202a-171f-402c-8469-1233a0c292a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b58cb187-8ce9-4585-9f57-490fdc5a07b4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:72dbd4ba-5576-4954-9335-8356977efc3d phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a4dcead4-f04e-4f94-aae0-197f3ff29f73 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fb2ba58d-8a99-4c9e-b51b-b0400c413eeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c0961828-a1ca-4999-920d-cb58f4c72e5e phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:59248ff2-673e-41c8-85f9-20bc982bd27d phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8138909b-9137-48de-86f1-91460047522f phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2fdb1730-5301-4017-96b2-2070a8cd8db8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:77d0fde7-0fa8-4b31-9d51-0669ab3468f1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:336346d9-9e72-4118-b9ed-ded4c44204b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a98fbe2b-324e-4653-bfc3-26265856b81b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:15a70f82-5622-4757-9ca3-c760c7412dd6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66e356ee-5218-42ba-9799-d8470b75aa45 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdb3063b-4fe3-470c-bd05-554bad2e9a10 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b04a9127-f484-46f9-8d3b-4e6e8e70d787 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:242cb1bd-7df0-46aa-8f2b-422e05168bb0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6468078-0552-47c1-89f9-889ab1359b97 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5bf19922-a0e6-4ebd-bdb9-37056cb3e742 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c37f745-5c49-410c-92a9-0ac382060820 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2fac2a3b-11b7-4926-a8f2-185d7118ec16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34781280-ebdb-48c7-8bd6-d25398b4f3f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:10a3d67a-252e-43e2-8715-6de5090ee5cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fd7e18d4-b42c-42a9-bb43-7d042d0f7930 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d20e47ac-b7d4-4e32-a2b2-f2edcee424dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:373ab22d-4d9a-424b-85c9-c421bf7778dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0008bcea-0db5-47a8-9ae5-2b3a06339f31 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd9907ea-dc7d-4c84-8fad-72602c31bab2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cf93c3be-0f3d-42e3-9d34-8fa71455ec0e phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2ebf4fd-ac7e-4966-b6c6-689389be3dec phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:552ee3c3-084f-469a-a9ae-361829f8dfee phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c1e0a08b-5d78-4bfc-ba5a-edee32afcda5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d9e6a215-902a-4069-9deb-90759db93a6b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2483f98b-425f-4f5a-8bf2-aa7570a92a04 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91d86de6-64cf-4585-8844-0991890363d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:64f5f82f-680f-4cb7-878c-df8a10811521 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66914e79-acdf-4994-9e15-86fc27012e2a phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:015b28d2-7ec9-47d7-b33c-43d1f251b4b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7c2f3f4-22e3-4e9a-b9ac-514b1f7696e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ab11e46-4ba6-4641-b044-6d57c4ebc889 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d82b6f9f-debb-429c-9bc0-f54516f2b133 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ab91290b-5edb-4d57-87a0-0253173fdeb4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1238914d-85d4-4077-bbc3-9cdfa85d28af phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:898f1f37-de81-4556-bd38-9030c3b2336e phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eaa47bb6-f53f-4860-ad8c-57eb77754f51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:affeda19-0027-473b-b7ad-9dc16892b04c phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0e4edcb1-0ba3-40ec-864b-99d59ac1e5e6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eeb63fe5-ac8e-448f-86bc-45c0ca2e49fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a5c85fc6-56e2-4f28-a887-ed87672269f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a5fc7a6-4bd4-438b-91a2-32d771260a19 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9240ff1-f76d-45f3-ab93-7e768fef2c36 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b8e7167f-d2fc-4b33-8e1d-064f478753e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:93690db0-eed4-489e-b341-75e1310c2f8a phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bb8a6c86-cbf3-45c6-8816-602e39667ab4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ad75061-543a-49ef-9c91-7949360f90ea phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4162da8b-c9c5-4170-8466-67725efc5276 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d8b150eb-83ac-4a25-9e6c-3f8f720bdb9d phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:77c2ee92-95f5-4a9e-999a-195eca5e9bb4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f36d05e-f2ab-4a90-b2aa-6c027e350c83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f6af0530-28af-4fd4-8aaf-11546ea58598 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:68440471-3df5-4020-8c65-d6832b77100b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c2bed2eb-3ab8-4872-bc39-0668c64bf465 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9f40d3d-b6c8-48df-84c4-95ad4aa88811 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5522904a-b2ba-4467-b923-f9f11bd838f2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fee98cb2-5332-4d2a-9772-c9c9a508d5de phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac9e713b-ba0d-4550-9883-cd07b57fd3a3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3cd52c83-8036-4b32-abc7-0f3d3cc03b3b phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c040691b-f24b-4e82-8125-c1153befe8ed phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:3c2fca36-1ccf-45ca-8d2c-35461a42ef49 phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:bd994642-47d2-47c0-8466-e1e0bcf776a3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c758fbe2-8e09-46ab-bc0d-e8bf8fc737a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c15f77de-3d30-4c0a-8056-df128e868029 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c35ea8e2-8b15-45ca-8b89-c9d5bd0f2ec5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b5dfaa3b-09fd-483e-99ae-d0e34c3a6618 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f388eb17-8845-4a84-9acc-5f797a03f2ba phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:88ed9dd9-8188-47e4-9952-23e4128c9b8e phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:59bebb98-705d-4364-8eb1-a4383fe17054 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7c210625-76ef-4f0d-9eee-04d952337477 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:616caf33-bbdf-42f7-9ebf-9caefd04188d phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:daab0e64-0112-4a48-8d50-30f9870c882a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e28e86ba-cfd2-49ab-8089-bffc7ac25718 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:f1aef308-979f-4395-8455-fdf54154de18 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:3c9362a0-a54e-45bc-ad27-a1fe023441b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d1542067-53d5-404e-b2a9-586de1ccbf23 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:456a0258-3212-4587-9401-90ea094e6d1f phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38c991fd-8053-47b7-ba89-c0894d8903be phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:550a35e1-7cb7-449c-8a01-7ddcb62c7cbb phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cf3163d2-5bc9-417b-a00e-7ae20a60ba8c phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:64c43f60-5c26-4893-8726-576119ec41f8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9d4a4e00-7998-45ee-8d4f-93daf039443f phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dd079540-fa94-40a7-8ce1-2ed77b8527ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:203cd923-198f-4508-85dd-ef5bb1e46855 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b2adf3f9-bb4f-49cf-8e64-29ef7e714476 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f97c52d2-2910-4e6e-8d8c-1b12f38fb799 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:40e6f6da-a5d0-404d-8267-d6d234904b4e phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5a7eab1e-3daf-4783-8157-c296e8ccc67a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37b6a387-de66-4786-84a1-244d50a086ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:917d2dca-2c4e-478e-bcb6-baa6d63be4a9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e833c387-26f7-4b22-86bf-fdf54c244136 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d912907c-2020-4aae-a8d2-6b31c069f5ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7db0786e-d720-4b39-959a-5927c721060c phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d9a5050-0db1-4569-bde9-bf46e96a69e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1a833a3-4122-4ea2-804b-f1d1099eaa24 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6fee04a-2924-43da-8794-081d3ee0c994 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c865272-c4c1-4fea-aa08-79b21b9857ea phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9d4f759f-f080-4395-bed0-7f03c9f5f3bc phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d64b55d8-8e13-417e-b4d6-ad4566fefea7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a37191d9-6ac5-4321-89a5-04e2968cb258 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8edf71db-d659-4fa4-81db-65513245e5b8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34e7f261-91fd-415a-90ca-b30017bb0eeb phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e31760e8-ee6c-4fab-9ea7-38317c0b03b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5379d3d5-0c03-4645-905d-00765517831a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9b1a065c-2c03-47d1-9e59-1416372d0810 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:86e27b42-80ff-4662-89bb-f5d95a3d545b phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:36395c11-62e4-4bd7-81d3-c9554cad2114 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c55a6bad-bf1e-41e2-894e-39000909cae0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a0d6422f-a088-4f70-b7d1-b2d5529d4238 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1119e4af-fe04-4517-8edd-d7e3cc4b2667 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:113f3aba-545a-49cb-a234-2f559a0b5b5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f36c220-d130-4812-bf67-9ec124a1c7c7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:10687d2b-39a6-4d68-951b-ee2f13ffc1a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af39d63f-179a-4aae-b982-196df5c52e5a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6cbadcee-1434-4d3c-a7d9-5f03a4154a5a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:348b268b-a0c9-4d4b-92a3-048f0252110a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36074901 uuid:ce8ed79f-cb99-4c8f-bbae-c206763e4d9a phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:2a38e01c-b866-4960-ac75-9f8039e6dfd1 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:2413f69a-5376-4bd7-8be3-3bfaadb541f6 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:4f8a19cf-162a-4013-97b9-1f984ef48623 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ed9312e1-1f40-4c27-a04a-3424ff18d9da phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:c67817fe-68fb-450b-b344-a0d409a2d2b2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:dbbf9179-7d09-4ea2-8f3c-262e6149755e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:6419c50e-82fb-4ea3-ba0b-3ff22dd0794d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:bb568f4f-5e88-4efe-9d79-ef817d2ea3fa phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:6b2f7ca3-47f5-4e31-b363-94c987c31e5c phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:d0604dd1-311d-42b0-9de0-7389b57b987a phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ae2e8060-3f4c-414e-9080-a26e6d1da01f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:df4781ef-e23d-4fb2-b478-1e692069b94e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ecc34842-bb3a-4268-963e-f158cc281346 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e834e060-56ba-4432-a3d8-52d62604dd36 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:28f57aa4-b7fb-40cb-91ee-673f90b8c9fd phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0b24b237-b310-43ba-a0a6-e8579d078004 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:2defd6be-2106-4986-9f04-2bacb0582c14 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:eade80cc-d3b6-4bda-9e32-f7407267fd94 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:57518de7-b8e2-473c-9291-0aa3848a6822 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:2f456cf1-b9ec-4096-b90e-ec857fa5175f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:f8d15ed7-74a9-45b2-9d68-1f17eab1e42c phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:9ff7eb63-f00a-4d36-85d0-887f12238547 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:429e8714-5f66-4127-9c91-7411387f392e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:dd1d575c-da2d-4bcb-9614-33e5b92daabb phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:8e21f3c1-08d2-4453-b69f-4d8007a990a1 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:9d5b5ec8-2688-488c-a678-c35ef737c73f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:36604216-7b49-47d3-8d4d-432130129f4a phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:dbc70253-7ed3-41bc-a291-8808770c2a5a phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:8110edd1-ee32-4abb-a6e6-060d7f36a0c8 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b120b2e2-2483-4f38-a109-27592b25fd60 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:90270ace-1d0b-4335-b7e5-819d2d118693 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b2c0e636-5677-444d-b522-924dc3cb72b0 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:65d0aadf-1db8-459d-abd5-42a843800b0b phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:0563e181-05fa-419c-bfee-6675b4dcf722 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:e5c30c7f-0dac-45f2-9444-fe5f9b68e5d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fa437e43-8b1e-4750-a424-ee8bb0d08fca phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fd4a7f8c-c8d5-4b1c-ae49-0cd5cf27e5a6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b0bf54ce-7b48-4771-b6fa-98d63df2f110 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c7c3cd8e-2a46-4828-93e1-073808f09d50 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5dfa2810-3f18-4e7e-8646-0856c3d2dee4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fd441a58-4de1-46e4-8519-ae88a67a1630 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8081d020-9871-4d3d-9653-16df0c2a5d74 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:6641c71c-4a05-4a2f-9f84-5794ab92182a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:271ef3b4-fdcc-41cb-b7e3-4b9d29e0f51a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:af99a332-46f4-4578-88fa-99ecf42d2ef8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fc3d9ee2-92da-42c6-9c09-625d8ceed3f9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f69cc19a-bba6-42bf-a273-4b44e711798b phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b938a58-39a7-4a18-9bcd-1772e1c6d053 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b73bfeff-7fa8-43c3-b7c0-d1c45ee92e52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2969c229-6166-48c1-8119-b32c81a5605d phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:71398302-96ed-458d-9e23-a50e6b6dbae5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0be96af3-d579-4c07-8f91-187e6c83779f phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2194e79-63bd-4d8e-abcf-20395b91cfc3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c0269f4d-d985-4912-a56c-f664a1fb09e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9b615654-f7c0-4981-a23b-419417366485 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aba0cd32-23bf-4065-b430-7495ca804015 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aca68fec-379d-4fbc-8047-e08600b29f25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e645c029-c3c3-4745-b305-68df13a27d9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:346b30e5-759c-4f92-9438-e904ec80ff30 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a69bd89-29ba-4339-9a36-972b721c7dea phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:81996c8c-10bc-4eb1-9f98-281b9587f4dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abf40b3f-b0ac-4f52-8be7-65380a8e419a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a503bd9b-13b1-462d-b137-661a2f7bae57 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e2138d3e-08d6-4b10-8379-7e7c815b1216 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3a72c13f-b5a1-4925-8b92-ff81ec5ce748 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0f76273e-dd25-4b5e-9e25-30c33ab13ced phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b99968e-32ce-4a14-b745-719315b3aa8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:438faa72-bf52-4ae4-a100-381575890de6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c3d970ff-7350-42d6-81a7-54528706c461 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:42be7a98-59ef-4205-8a3f-b38d0d781ccb phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2dc5845-e4ef-4409-969b-924b51b685af phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:824eb648-2c3a-4603-8dcc-aa498574cd7e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:203a37b0-a966-4130-93ab-5ed795ab1d35 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b56b9c4c-796d-4ab5-b512-028c63036e1d phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1e545b78-334b-4c16-a4f0-309180abde92 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2b422926-fb2f-4772-800c-ff14ea7bbb9e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:85f18d1e-a991-4d37-88eb-60a5a8b79b97 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3ae90775-9e6f-4d19-b323-b5b4f0dbf11e phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bee1668b-9080-475e-b615-2a0a15a0ba42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:90a723f5-992c-4b9a-b0ad-6a0719f0194a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:683f18c1-2a1e-4e20-b66a-3ed631d7beb6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:42d195e2-e723-4f61-8dc2-94091f215a55 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:52f95487-52ba-4af1-b4ac-53cd9e59811a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af9a7ad4-a08b-4fc9-aa1b-7c5c25f7a2d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:909f0ec0-7a36-4fc1-8d13-444466c0018a phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:119fe2ca-a632-4283-a8e1-3a8b3043602d phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:65d07e1e-e5d1-4336-bd91-1ad1405bdf87 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0055a599-04dc-4e57-9b95-a4e5df4db17c phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:518161d9-0df8-4694-b6fb-524b19b58ea5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0fc000fb-67c1-4594-aaed-432e8ba2c403 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f24f80b3-3d75-4c30-ab09-57216ebefced phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dbfb142d-16b0-406f-b961-8da17af5d9f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9f772ac0-af49-438f-9ca6-4d4f3f1fc3b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3f61f1b2-e6c4-4015-aa6c-1a0f5a36eae3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7d2ccb75-87e2-4a9b-ae5d-73eacc139735 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ed8e3253-f9c3-42e9-9ec9-3b7442634c95 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:35d4ab4e-9520-4d31-b9a8-0e124752b3c4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5ef39e4b-cf43-478b-93c2-e723e74d0bec phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bf6186ff-2263-4941-a686-82367abcde08 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7e4bfaa2-8ea8-4aa7-8be6-aea7f9c84fe1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:57605e7c-ae41-4933-af9a-baa641a2b4e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ab8fe7e-1c9a-4947-bce8-c527bbaadacf phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7048002f-f217-45a4-92ac-dbd451e6a242 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37313897-cf3d-49a2-973c-faf67800e7ae phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36074901 uuid:965189d2-1a64-4402-9a6f-56c3736b7390 phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:e090267c-963c-4bd4-a1b1-cd5ca342bf69 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ebc35aa9-17a5-4d28-afcc-14c15b319630 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bd30dd75-9173-4edb-8ab6-0ad02e7bceea phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:00cdea0b-0d4d-4678-9f56-0cd099943005 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d899f2f7-fcf5-4b02-91aa-6710ef137600 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:61cd207b-cf6f-486c-8d8c-febb12492f51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a148d4c3-8a08-48d7-b354-d9e69a2e4564 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:40974ccb-4090-4806-a32d-0177d46bece5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:086e6235-1182-44ec-89ca-55a667f19c8d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:b70bb0ee-a85b-4090-875e-2b3dae46164b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:6dfbb1de-efe1-45c5-950d-8b14bda346c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4074d03a-6e6c-4402-9640-6416454ffad4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:df842e21-fee5-4841-a5d8-7105eeab1a71 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c6831465-cee0-4c0b-9df6-75eadf3b6260 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa402532-79b6-4874-8e9c-c776fb0b7234 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6cd3306b-dfe3-4fb1-ad5d-720e620bbea5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72a02518-2e65-45ac-91d2-a1d967030b75 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f07bc165-e748-4e0b-a748-42abcb8c754a phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1e01253d-c4b1-4b42-a57f-393400880df1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:38ada319-a945-405f-b004-e283578b780c phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2010f17b-5fac-46a3-94ed-32e5cfc1be48 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c25c9f52-b96f-44f8-a2d4-124f4d977912 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1bb721ae-5493-462d-b93a-fb0add61d402 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2441be55-a861-452c-b8d8-3469226ba185 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7f83c21-01d1-44ca-b5f1-47d4fc679bc4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b736b735-c359-4916-9aae-0d33d14e89ec phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8e304500-7342-41b1-b093-c369b1a87412 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b5d8eeff-0805-4a2f-a848-2b1e0ef21b7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:863ae469-91be-4e4c-a13f-8909094c6b32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:283baab6-48af-4181-a1e6-340c28726483 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:64a1fd14-d4c8-43da-87bd-490e06d3e238 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a46cffc-f69f-4ae6-ad88-d3b84e94798b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:52cdcb92-f722-4c02-b358-dfc784945c09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eb5d185a-30c1-4e23-898b-cd3e94044dcd phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:46fe4545-378b-4fa8-819e-889dd212fbe9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ecd6c2e6-6262-4ec0-8b77-a0b601d98b3e phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:542f5c70-ef6d-4ec7-b402-a73075e106b3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ddd4a32d-5948-418c-b6b7-0a8cd5e855b0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:531f1f40-29c2-4f1c-8ec2-6dc2023e9e7d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48c8a790-e3c8-4389-a3bf-35949f64a8ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b7960690-0fbb-4688-892c-8e8ef702a180 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:55691333-34a5-4c8a-8760-0e792de44ead phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e54bd887-8237-4388-9d62-5c0cefd5db2d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e4c03172-b59a-49a5-a6da-2b876197fbcc phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:66cfb681-b075-46d3-8a32-71e88fe0c8b7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c5bfcd4-2212-4454-8fce-a8223b13947b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:04be135a-7248-42d2-a4b8-724f7bef376b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d471fe2-faca-4e23-bfff-34ad58b89c3e phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c325c6cc-2e5e-4ec6-ad2c-e1171784ae04 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:360501a5-1cab-41a0-b36f-aa561ca5d2ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b9ad7d5-8b1a-431b-bc90-2fc30d9be892 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:faac96d8-2d40-46c3-83bb-53e9f247cd43 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ee84ff5a-5474-44c9-b1bd-c4393ab2d2d4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5c41300f-5213-420e-9682-6be10842604d phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:122d65bc-19a1-4ccf-9f97-ab923268e52f phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02978d55-8efe-4c4d-8541-8fbfcf7d1684 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bb3259d0-2b3b-48b3-bc78-f14723067ec5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:89c5d331-677a-4207-b5c3-9f3e7b9a4d0b phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9837939c-63d6-4233-b24e-17065bf223fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:619a8f98-ae4f-43f6-b714-c891b2e3362a phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f12944fa-d86e-43c2-912d-c2be278fdeab phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9096826d-f23e-4e26-8b78-f968b6a009fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6850d46c-a3f5-4287-b488-492d28db4c54 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e1fef8f2-dc5a-4c50-b8a7-4d882b56de70 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8b4e43c5-6ee6-4ffa-84a4-0ace2958d3d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:63fb9fdf-fcda-409a-847d-df75cdbe4536 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b484f28b-f31f-4981-8438-760eac203ceb phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:24d5b6c0-a793-4bda-8cf3-b22980699dd4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:41c65cc8-c5f6-4c7e-b9c4-efbbeff2ab60 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3edf6cf3-0d3f-45e6-86c9-fdc1d74f868c phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3c015b9d-4a49-42ac-ba87-11afd4282f55 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4203e67e-b022-4046-9797-092ba71d8537 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36074901 uuid:f78a9562-b9f2-490d-80de-460fd2ac6be8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:04750b0f-f575-438f-ba04-638b7f8ec23e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bf011db1-3c1c-414b-aff8-ffbd8495314d phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5b29aaa4-b32e-4763-b969-4da9ac0c8c89 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:db648821-6777-4f32-8692-defa825a5561 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:458b573f-d215-4d5d-ac24-d6e032dca7d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bd62d618-a107-44d0-8c28-cc8b933b88b2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:123eea5c-7aec-4323-8e64-8e5f9e2c6b35 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bb5dea5f-ad96-428b-a509-d49d2b9ae68d phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bd5fd660-22e4-4233-89bb-79fb8f115b96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:854c61ae-7092-42e3-913c-d73913cd3885 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:561a4446-d10b-4f2f-b93d-07b8830b13fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f904ca9-f79b-405b-b53c-651c3fdefc3f phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91dbc953-3028-4ca1-9861-a705e59b80e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:11c3ecf9-f6b4-43ae-ac7e-955e8f299261 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:552527e9-25f5-4b9c-bda6-f207a850cdcd phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:10594743-2e4d-4c67-b0c1-f4433d5b60a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:21e683e9-2c02-491e-bc1c-62a8bce2ee9c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cef48be4-679e-435c-8ef4-5e3b1cf8f792 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:331b12fd-17a1-45db-b0ac-8a01fb3b0829 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84322180-048d-4dbe-b52f-bb78c3684ef3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ad5aa31-209b-49dd-ba6f-e11303fc0862 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7d1460d-2621-4f7f-8c26-544a530c18c5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2ee5711-fefa-42e6-9cbe-a9d98ac3a029 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:63c15d29-7230-43d0-b84e-1ae715f3138e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e97f221b-f6be-43fe-b37a-878e4b527c1c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f444ba87-530c-480b-8c9e-4dbf8cbc5cc3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:afb601dd-465c-4f59-9ff4-a87183d28d26 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97fc099c-1229-4796-8da4-973123d46f50 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:804b532e-7bdf-4e5f-a19d-16e76dd07236 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:052ba5a8-a004-4142-8a3b-bae2da881f09 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3b8219e3-01c8-4daf-8759-2677450d3635 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5669627f-b0ed-4431-982f-9cec4f6cc132 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:32bbb46b-cf5e-4601-8745-430304bcccdc phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9d5666a0-2509-473c-8f35-c8e3daede61e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0d4b0540-e88c-43d2-a99f-43509abd9763 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aac689f0-6afe-4e5f-8863-0506b8641e01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4c7103a8-4d0b-45ff-9889-79643f9afb18 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6756f6d3-040c-47bc-ba05-1b8c30322fa0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1bd9f464-bbb2-4d52-9459-c36bc4a1645b phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:69450b1a-056f-4155-8012-6831a0460e59 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f700ada4-1838-4d6e-bfc6-4a2a5dc7a6c6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ea0275b-d97a-4f16-9fc5-41efc2b3a35a phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c0f7a52-5197-403b-9478-8ac7e12b1b78 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ef90ec45-a0f3-41cd-ac93-c1640b670241 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e425081b-6774-499c-a5ce-65fa2a7fe036 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ce0cc056-d170-4593-bbc5-9bae95cd8b9b phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:186edaf0-978a-4175-a575-b49040f8280c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a86a538-f711-4664-bce8-d445fae37ce4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:714b26c0-fe10-46e8-8817-2e6807970254 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:84f59f33-9d8b-46cb-92b2-9cc0e8f54d1f phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a1aec7cc-308b-45ec-b2ec-d3f8592e08a0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e8de11e6-7fa0-449b-a894-16c4fb82dc00 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31f20bfb-f494-45a3-839f-b9847336a3aa phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f43b592-7693-4413-a7db-fff23a59f568 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bb0a5db2-7592-4495-9fe4-c766904ec3fc phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1de9cf1-581e-42d3-98f6-f80f0814470c phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:54f35073-33ff-42a5-b3fe-9603eeb0bdf9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:85f574ae-ddc5-4db2-a41f-254deec7d3ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f88dce50-44e6-473d-883f-ab9d91c6d695 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc71b5de-6a09-4ca4-a70c-11b7b948fd2a phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0e5c2bf6-f6ab-4ddf-bcea-e712a16cda29 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48de17d8-48a6-4e63-ac52-2c061551a61e phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:74895846-0ed2-492b-ae29-8f75bd7824b4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dd642408-fdbe-4267-bbf0-79e677d482c4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3c4563af-ef63-49be-ab51-0c78f23fcd74 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eb65cca1-6f7c-48f0-a696-5c70a567747a phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8d9c4336-074e-4aef-8d62-d48604490f58 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d18de775-6c7e-41fb-9d74-9a274382e34d phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cf4b3a08-1b39-44f7-ab43-18965387b217 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f1e634ba-74f9-4dad-9f7b-7f8b9fe1a30f phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f9442787-ddbb-48e6-ab61-868b762b4888 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0ecf0e30-260d-41e9-8ad6-892216b28a17 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:819df59b-189e-44fb-bec0-0775c05621e0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:36074901 uuid:3abae922-e522-4d2a-8c81-73c639d60fd3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:9e8c74c0-fb8a-45c5-9337-a8d06da6d197 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:dbc4b638-0cbb-4aea-af67-e3c9d2fc14f4 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a435af83-5c01-4471-bf5e-8b09bfd70527 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:54be8922-8f77-445e-85bb-a7edd04c3338 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ac322aa7-b46e-4f79-860e-1f02b01c668d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:1eee0cd2-3f52-49a8-a49f-745c4ce9ec2e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:fa9b5b6f-7c07-4e8f-862c-75c538ea51af phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ec4c75df-049f-4603-8177-637296793fce phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f82c205a-b298-4d68-868c-2da0d7b65586 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:5358f8c7-2f29-42a8-8f60-9028739677fc phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:05e2aa11-2212-4b57-aa7d-5f70c2c0aef2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0248163b-9c62-4e81-8a5c-e6f963c241ac phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:8b58cb7b-eeec-4c45-bc53-5ac4b8e271a1 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:4ed149fd-3588-42dd-b0fd-b88dba8b7ab8 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:77cd7cba-aa23-4c92-8faf-b513a0917be4 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a3344816-8d45-4da7-89ef-5fe17aac50e3 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:9a53b7a5-d168-4e6b-9c6d-ffc9138b970e phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:99b14ba5-bfa0-4d52-8ddd-93f0b18cd8d9 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a4614871-316a-4b12-b3cd-7b699368eb11 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b4ecebf3-6acb-497e-a6ba-3d1fbb3ab0c6 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:0384c86d-eac3-40e1-b1e9-7ee22738759d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:d0234e21-f0bc-462a-b984-d82bdfa00e60 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:8d58f84d-d7a5-447e-825c-a7e7aa709082 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:852e74b4-e906-4312-85ad-7d2b9afb4db5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:77f92bd1-e59c-404c-a850-d82c27543254 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:aaec6b05-8aa5-43dd-8fbd-e4576f658249 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:e1ccccf1-80c5-482a-965d-fb5dfc75ec35 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d74c0d84-74a2-4587-ad44-10ae3d256ba7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9377ae9a-9289-44de-9fcf-7adaa61e3cad phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:fe321006-86ee-442c-825a-c38281d7ce6b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:bba5bc10-1bfc-4679-ae6a-f226b7bd97a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7cbace20-6c90-439d-b872-5efd0cdd890b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:09f122a3-71a6-4f34-917b-6b8d4d56e3e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:644144ec-d0fb-49de-8a0c-6c90bd5a0290 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fe545586-261b-417b-85a2-1d23b70ae3d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e5af2f6f-3fa0-4cd2-872c-aa30f6e6da96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac547691-fdc2-4629-8885-058a493152fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:202a1c00-12a5-45e8-9f26-412cc00757d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:170c4a86-9908-4b7e-bc63-a7ba5162c573 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ff42447-6879-41f8-b3eb-5aed2df01f16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4a674d3-e57e-4cfd-ae53-306e73fc6e39 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a915c358-85c2-4341-959c-1ccdd344f64d phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:821b54dd-0424-4223-bd55-04702aa0ca69 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dffa2456-65e6-4c1e-9743-daca9e234023 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ea5f1bf-185d-441e-a613-dbf4f2d70c25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c158e205-a5b4-4f44-bb6f-717145507e63 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:20e86e9c-cd19-4ede-90ac-86965776c8a7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0e762e92-443e-4032-bee2-9dbf8bc49b41 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1acad7b-e6fa-4d4e-a41f-556090e0b909 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0143004f-148f-49db-8cea-f4c2623ebcf8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:26b327c8-0b57-4ac3-8533-bd52768051ed phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:574611e1-e240-4bba-bec0-947efdde8474 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:78186ecf-329f-418c-b8e4-55645e3bc75b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5581f5b0-2648-40d0-bf7c-dcd994cb57e1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:07e1be10-803a-4ca8-aec7-47929da871d0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4f4a89ea-9009-4f4d-b57d-8ce3f53f514b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5d52c8a0-cf52-424a-b3dc-53afff33de06 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:19c03429-32fd-4ef1-84f3-a241bbf22179 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:72c9c492-1407-4656-9e92-a7a3a6355e22 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9bfe17f-8658-4026-b1ca-26b292a43793 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:286b8186-ff10-475d-be9f-35fc4578e255 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48045532-b903-440c-a4bb-c19e0d37e350 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:662e0da5-b9cd-49dd-937d-f88e863a7bc7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4b4d7d40-1540-44cd-a546-bbe0229cefa3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:063f67d3-4382-4892-b8cc-58412d3f6e01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d9e2ea14-4090-4ccd-8e85-dbd1de9d602f phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a63c67de-bd37-48b5-a016-30f41ff803e3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:31ecce7f-bd9e-466d-aa36-7eeef510d550 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:50e3ba3e-307f-4c4f-a7b6-d844157613ea phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5e09c7a9-374a-43ff-b455-8bfc2fe0c74b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc98cfc4-82c6-4c65-9ce9-a57599bccfca phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a217af08-2e17-4bc4-bdda-a7507cd42bb8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d445c15e-9a87-481e-8616-70810e7c97c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a2e3b5a7-aa64-457b-b6e5-30d70cd6b4b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70eee663-f1ff-42a9-97bb-fb3902154401 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dab9a2b9-bb86-460b-a5e8-9ca2b1b502b4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa877bf1-6159-46ef-885a-46eb74f707ca phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2b5cd3f6-ade1-49af-b22f-049ac7464d91 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:064cfe40-2633-4006-ba49-effcec440bfc phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e6b4dd55-6135-4779-b427-3c62f4c2e8d8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:46ffbf40-fd26-4db6-87ab-235c55f9bad9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:598aae75-da12-4530-9658-c5db6bca5a57 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:44b49a09-03ba-43a1-b001-00fa2f12b3e2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f89c5c27-67d0-44c7-8003-a449eec5c4a1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:16f8e6fb-073f-4d21-b4d3-845142e57b3d phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f88b1e56-0a7d-475c-a2c6-c1e582c76748 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d1bcc51-1edf-4d56-b326-02b3e746513b phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:27c6b350-be8a-423d-881c-67f876c0a356 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c125d2ec-df55-4e13-aec0-2fe5dd63db96 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b6ed3754-1cd1-4f58-b7fa-264798ea7f52 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6ade771-72c1-407a-b190-d0ae43c8ac64 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9456ee23-d8ca-4db2-a57d-f86a777bba79 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ad3add23-aa11-47ed-ae06-dda3e016424a phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36074901 uuid:f3538ddb-d5ea-4775-b4f7-57d1fb2fdd08 phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:1680e72a-4a16-4f87-bc7d-c2d9020c98f0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:30c23f26-7467-4e9c-a5d9-3c39175ae919 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c1107a7e-5a85-491b-af3a-2cc5775633f9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7a1defe4-dbf3-41a9-8d06-12e7e1f21c2f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5b025744-7c9b-4aaf-956d-90464eaf03c4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:96fd5055-b404-4d22-92db-506931ffe9e4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:5e8dc481-ce4f-40b3-acb6-160cce80c9ef phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2038b9de-fd91-49d9-85ec-eb1cebc3d707 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1a6d6a49-72ea-445a-9f4d-8d4a9ea32df5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:14c101ac-fbb7-4675-850c-f8abaf3c4f97 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e2c09684-e1fe-40d0-bf17-f7dd271238f5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:92ba5ba8-a8b9-4a4a-9a9c-2894cdfa489e phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d29755b8-03b0-4b1d-8044-d3b7250a3c0d phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0ffd86d-974b-44cd-8c46-c375a326bb8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c9ea4db9-7538-4d3c-b398-05910568d267 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dbb189c6-d7b3-475b-92f4-f09c94b92318 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:96ed3e56-6119-4bd9-bab9-9d67e464cc6c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd0d70e1-6b13-4426-8d42-893b0073914b phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cda43a33-c4bb-49de-8d79-a1aa5d64b418 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6eb7bc8f-3706-425e-a30f-62cde449a7c6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:caaf229a-9bb3-4574-91fa-b22dfff51437 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3cf338b8-45a9-454f-9bb4-74c381af0c56 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:02ad8f2e-39c9-497a-82c0-d1f0aec7a83a phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8cf1ddc1-2b2e-46a3-829b-1b344acae91c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4bbea694-2219-460d-a9c0-5968d634cc40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b51733cf-4f4d-467d-aa14-8cdcb9e0b221 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:530e0979-a156-4495-9408-c7814e4782ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2e7a05ab-057d-4a8c-b48e-47f2196f762b phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c30663c1-b1a4-405c-85af-7c0459b799a6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2b3ea8d7-a439-4953-ad93-dcf3a54caa77 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2bd21907-1998-43cf-8481-a8800b9ffea8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:03d56575-d09f-4fd3-a3d2-3023ec2e670d phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7dcc13af-f26d-4411-a1a3-975a28a7a462 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:11a750d2-21a1-4d96-b51c-9319f43093a7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:059e6f04-86b0-4efa-8e1f-7baf709db07a phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bae0f215-ec61-4282-abb3-ee52f5a52a32 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d00cf1df-12a0-47ad-86c7-1c09ee4310ff phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3d96a5ba-a58b-4dfb-a41c-7856db857fc4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b699a701-4512-4584-943b-93e26e9135af phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4d0ef203-e11e-4298-8e91-aa1be7f9a7f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0fafbbbf-4821-49ba-aee7-19ca25dbf208 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:db994ba6-179e-47fd-99d6-bea50bd853ca phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:60d02185-561a-477b-94dc-8d216f3757f9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4ad9792f-175a-4dab-a83d-5850f0bc3954 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:885c4e33-15a2-408e-a639-4f5da6bc9bf8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6a20d7f5-f4d5-4b0b-b1ef-0036c3cb007f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c5b8f476-d401-4706-a517-49b45dc6998f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4059a126-feb5-4c23-8ea3-e564a7593353 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:61c02ed7-5ad8-4efe-a525-0fdd113c7c45 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c29e9444-509a-4a5f-9a00-cc4e6fcc31e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e7f33a86-4a83-4f17-a6bc-308abd7165a4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e528baa3-0925-4c98-ae61-faedb4141371 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d34c3453-01b4-4d40-8100-978b843ea942 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9788a3c2-cd0c-49d9-bef1-86b388d691c7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0166e94f-ebc5-4aff-9a0e-ddd9bf76b52f phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5d52cfc1-fb9e-4e96-9692-19e9a0db7eaa phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e828e71b-8fdf-46d6-9193-9b371a59c314 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6856e1b9-290a-4f4c-b6d5-d9154436dff6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b0fbbb70-4c50-4bea-b0a0-d7e5e24c55b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:15851b12-484f-4057-bf8b-d15b6cee1e6c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:63167728-e294-4db3-b222-834aa880a61e phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2df5f8d4-fd63-4400-9c85-23c766e2fe5c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:70ef8194-1ba1-4377-bc18-a8c2d32b4232 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2aabac4d-4f82-4ca6-8c66-0ed830d22bea phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:905fad87-525f-47b8-8abe-55f402cf15fb phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:744fca1e-2d2e-4f2f-9952-1b29eaff7841 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:006a0f61-58c8-48e5-a3a4-6b487bd84cc3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:79110eaf-53ed-40fc-b1e3-2ad854fbfaa2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e8494fcc-d320-420e-9646-bd8f870b5e7c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cc500b8d-e3ec-45f5-a2d5-ee875f97ceab phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ca048835-e6a0-4773-8c95-ea349557a5b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c0a3491b-cce9-47bf-83eb-a2836908a74c phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:20e80a2b-3ebd-452d-929e-516da0b94420 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36074901 uuid:b2901ba8-8e37-4290-b54b-13a2a1bca016 phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:700bb66d-535b-49fc-afd8-cb0f145aa3d9 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:8efbe8e5-6872-4db4-8fbc-9d6ab6d16fe0 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f4a8edb8-644d-45aa-a43b-4491694c69a9 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:556129c6-15ef-4a05-9e78-5f7172950577 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:aa640490-5ab4-400f-b743-224cfe88eb2a phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:d5a71338-ff95-4b99-8c32-ec2e4b23703b phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:02d074e4-9510-4a7c-8c88-e4682b65ae44 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b8955fc9-91e0-492b-b5e4-4c5c6d4c3523 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:7e311c20-5f81-47b1-82f5-05020b7b2e63 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b3cf08d4-c72b-4429-8c2d-d8e0d7041c78 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:9b784634-81ea-4034-9ea3-d8dd3b751b72 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:31d7cdce-f501-4450-887b-d340173d8609 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:42d13561-aa27-45d3-9403-f3b76a8c4278 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:887cbabd-eb31-4321-a73a-3c939b518f52 phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:b29ff55a-2b50-40e5-bbf8-fa53ecb8ab2e phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:93312717-74cd-4067-851e-027559179b4c phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:9157dff0-a57f-4873-b039-f9fabcd992ea phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:fb4e05fe-199b-4852-aec9-687cb73729e0 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:35d72f3a-178d-4fd1-9aaa-9f2697a9cb8b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:96c312b4-60df-4fb7-8965-8797671653e5 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:99522218-20fb-4454-bf69-fe34455661a6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:12fdb5f9-dbae-45ca-bc06-81a443caa9fa phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:000703a7-6481-464d-a2e5-30247a74759a phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:0d151d18-ff42-414c-a189-6bd85f952f6a phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:3af37310-14e4-4341-b484-f10b8c32e6e6 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:dba5aa0b-5cf4-4c5c-a024-2e5d0f848545 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:a93ee88a-b74d-4293-bd52-dc3925380050 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:7a1bd572-c348-4457-a96f-568c3e8e4fcd phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:1a8044be-0108-4e8a-a899-180b9b9bba6c phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:70ac168a-7045-40fc-ad47-9847f191888b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:9a0e32db-61bf-4eda-a769-e38b469d9aaf phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:a5cd80eb-1069-4c26-9c61-352fce6e5655 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:87dd6ef5-e1c6-46da-a36f-5bd2ad2eff9e phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:52db68fe-5950-4223-adbc-ebffe8000660 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:3416323d-055d-425c-ab03-fe5b8470c0b8 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:e4c23551-0171-4713-b466-0b26cc03dc1d phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:7c1fe616-b9c1-424b-8f70-6c12e8a042c2 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:a425d615-3313-4506-8bf8-bc0f08201214 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:8f979f97-0440-41e2-b8e0-8bda76ac9315 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:9a6eb311-e804-4cd4-8837-21087f3e8792 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:2569f4b0-70d8-4d19-9123-82f7ca6dbabd phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:d6475d9d-e773-4ef2-bde6-d4ce575eb354 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:9278489a-1841-4d34-88a9-318526079a87 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:bb3677c4-19a2-4a17-a783-b653aa8ad53b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:097e3900-72c5-4770-9227-72c9ed7a783b phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:37161035 uuid:07781add-aea5-41d7-8d6e-2d78ea7fefc8 phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37161035 uuid:d68b60f6-2649-4ca8-8001-b3ae18939527 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:635faf49-c22c-4e2b-9502-411e8843cc27 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:26d3c7a4-ce06-4485-aeb8-aae4e1185ebd phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:561622c5-cf87-424f-beee-682c8ad8c6fe phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:91276490-81e2-4c75-98f7-2fe05279ff12 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:207a3d42-7101-4674-b95d-fc1d849d8e5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:09c02684-9d2a-4991-8cd1-e4deba1192c9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:7baa7565-7d73-4a0a-8b8a-0002776b1807 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:ca8edb17-dcb5-4b61-867c-b318291ac4b5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fa3d75cf-42a4-4f14-8664-779f0366fc3e phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:748fbff4-f3d1-45ae-aa9d-bb75d33a1fd3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f4b66cf8-7482-4d51-9316-4b91a0f98cb5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:54686516-ff4e-4117-9057-01907e4bbcb0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:457c1fc4-5f62-40fe-b4a3-c8181ab2ca0f phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:094de18e-49fe-4194-935d-028a23891c01 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:753cc213-d2fe-4279-9abf-af3509d5cf5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2f8cab77-a617-49c1-8bd2-7c95b8ea0e40 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cb73f314-7e49-4dd2-8133-fc73a887a87d phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:441d4a86-cd26-4017-8ec2-6b786300a143 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fdda3ab9-2bb7-4b16-b0c6-f63040230489 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:34ba5697-a49e-404f-bc9f-e382a2963407 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:82ab97fa-ae0f-4906-b029-ec4cfc0f92fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d2d61baa-cb2a-43a6-aec2-782409301205 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abd67a84-6010-45c7-b14f-e115bdd67ddf phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2c97d17d-fc89-44b8-a6e4-980750b467dc phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c22e2195-b771-4cff-9a48-4be948cee198 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:24ffb285-81f7-4e48-90c1-d0dd4679d5a9 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:43742a28-2de4-4df1-8ef7-b7534062a8be phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bf925889-e992-4499-8413-61f8f8edb5b1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1371ab1a-888b-40fc-b2fa-a2f901d0ad78 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ca7dfce-1d99-413b-8bc1-7513e63a2b47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b92711b6-5a8a-4190-a316-bae14f31903a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b1d922ac-b184-4101-a1a2-2832bb4274e5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88fd3a59-50c0-43a0-8615-a5ebb6e8f320 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6725bdf7-503b-49e6-a92f-490e18d52374 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f52dad50-1ca5-4e2c-8dbc-af9fe70555ad phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f7dbd799-4928-4432-95cc-c849e7377ced phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d6c59387-aeb6-4c93-9375-d270a158e0c3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:76786ca3-7997-476b-8552-624aec8f320a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d242f700-be8b-4ace-bc38-9175ec64dbf1 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a8a36cc5-ccc3-48b7-b406-ef24ef332fd2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:eb5779de-24f2-448f-984e-f1e537e0a2fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3343e79f-b161-4da9-bf7d-d0903ed6cc47 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3999dd34-a2fb-417b-b52a-1b28eafc29ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:de2d14da-8a0c-407b-9ee0-fffa586616e8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e969f9bc-5d6c-4ac9-92b3-36146e6109be phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0a0aa7a6-481b-4aea-9f96-361c4a136aab phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4cb561db-f798-4726-830b-19237b1aee25 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e75f9f1b-ded2-4ff9-aebd-31a4d1c4343a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a86e7c79-7989-4b70-91bb-539b621b645f phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa6e228f-f038-4aa8-a567-d0f0ee482105 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0fe080e-a2e4-4587-b895-1215ec44b8ef phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:37b1ba0e-e914-4d3e-9106-e0ae2f0b74f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd168592-4e37-480a-932f-5ec84330e0a5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:98c268e3-41eb-4e0d-b279-eee5a4cfddee phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2ad8c6a1-711e-4b45-9e44-6cb66bbf8176 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f96e4bd4-233a-43b9-9447-c61c2432ef37 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:3c9afa1f-c153-49e8-ac02-dfe295633fde phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d0f36913-fce1-4fa1-9cd4-983c7c9ac87f phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8c9f990e-98ff-4d0f-983c-1cc34a68106e phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:73744e19-fef8-4e5b-a6dd-3b30804cdfd4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:93478440-5f73-49d6-82b8-14f15e367f36 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bf1e3a1d-25eb-47d9-bacb-6ac67b4f7949 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2085bec4-4616-4ed3-b003-1b8dc35b76cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:07d8343c-e097-4ea4-9a84-b6239821d0d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b8ab2b18-895d-4df2-b452-bc2699711722 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7196c7ec-b706-4808-a75e-0ff6448830fa phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5875550b-9fb0-46f8-a90b-22bad6fad35a phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e78ca45d-58a0-4488-afd1-5ceca9d0929e phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97c25699-0b52-40f0-87ee-1c4e752e7ee2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:1f9e1ccd-d28a-4952-a315-26e867d0d964 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:abf5f978-870e-4e57-9a7f-008b932d9b27 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b8988045-bfce-442d-be95-23a64b467925 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P3Y2M infores:phenopacket-store PMID:36074901 uuid:f632c9a4-05cd-4a9b-b87c-981f1c0ee5d6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:52aa3d5f-69ee-4c11-b9c1-0533a899578e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:cf87636f-28c5-44c7-a599-163460319fe2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:df00de25-a1c6-41b0-a3a0-3f5b0ae5da1a phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:1ae2fc24-1569-40cd-8df6-78ee11f4caca phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:2ae6f59b-d0da-48a0-9cec-762b5cc1907b phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d36408fe-0a2a-4179-a163-5e01283745cd phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:a4ae3250-aca4-47dd-a846-c89111e273ac phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:c9349e4e-249b-4a00-8ca2-ded90e82012f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:9e1c0088-0243-4fb7-bd34-84fe14c6ddd0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074901 uuid:d3c30fb2-56b3-433d-a25b-616941da1e83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e6610036-a0dc-438c-b7cd-aa206a8cae42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:111dfccf-f4dd-482b-89e0-26b322f82058 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ebf5b9ce-f80c-457b-966b-69b17e0c90c0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6d98b88e-d50b-44aa-b99f-d804a72d1e2e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f4836b49-8cf7-4d3d-a32b-7ec13affa80f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4051d6aa-71bd-457d-8f01-421889b8478b phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b12b0b42-e1e6-45f2-b642-96235c3c210d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97f67e6e-e452-4e8c-bf1b-02f18d8f7059 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:87871d49-c5d8-4d74-ae8e-d5aa1b79454f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:b9c63606-3a85-4e4e-b3fc-5cff7a56dfa0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e9eca1a8-db6b-4192-9394-285a2e7ec980 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4fc98cb6-4794-4dbc-9ee6-120236a9d90e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:cce5615b-8c83-4358-b3ae-253c667dcf68 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:94fcd2bb-e132-46b3-b88b-c711067b49dd phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:de76fe0d-d2a3-402a-9722-ac1414b52c9c phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bd98cdbb-212c-46ad-8fdf-90442fd59661 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c69c5d60-0071-4c18-9a47-db8b91ec684f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7158318d-578c-4c55-867d-9d7ebac66a5b phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:8dd589db-9481-41d2-abf4-f1352dd293bb phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:91a445bf-76c9-4865-8558-69759f1bb5f4 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d3ebcaf3-6ab5-4e9c-b06f-770b41ee6b74 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7957b931-cc33-4b09-9193-c872173b7dcb phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:718e69d8-0ee7-4f42-aa5e-7c629df3e09d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9b32264b-1df0-4cea-b0c9-4895fc73ef82 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:599fbfcc-97eb-4ae2-9c20-3ec9f50f8137 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6c082b25-c43f-468b-a466-835ea6330e42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a65d80d1-4094-4b6b-a5ff-a340b720f6a7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:aa64330e-df90-4e3a-abc6-8866c4f5bfb6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7f46c662-83c8-4d02-ad2f-92bf668d7d46 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a8abcccc-17c3-4c0e-9c79-4d3a9cec94d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:48125499-81e5-4b8b-802e-459d24c8a9f3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bab12327-82ac-4047-b4cb-4435a9b6e4d7 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0c66364e-aa78-4975-957d-4fc58810e18e phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:5587294d-22fa-4c55-a37e-b9b131aa008d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:28242d3a-39ec-4be1-b0c3-a49e7da89f56 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:bbac01ca-32b2-4266-a364-a6ecd2b84ea0 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:09be1d34-e917-40cf-b18f-ebde74851c7a phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9bacfa22-dabd-4323-8bcb-8a719c594a51 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7ef78315-18bc-484d-8311-40b2975c2ea5 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2636571d-b693-42ae-b920-20506b987b16 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:2e9f3b5d-6a5c-48f3-a61c-d574f2ee9dd3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:9ad3becf-91c5-4e34-9cec-6d8b1dca5b34 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6ee300fd-2579-4793-91aa-b0ea88e452e8 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:88864928-936b-4063-8e8e-c360fbfe5547 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:92d9da0e-5caf-4d7a-a3ea-f5c38ae36b42 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:dd7895a8-d7db-4c72-9063-1b790c5cadab phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d4acee1a-72c1-4852-817b-8ecfe7e72e83 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:7c77a482-b1b4-4c4a-8669-16e6ee84a38d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:6b9175b5-c76c-4f00-a958-2004ad7224ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:0b8b5d3d-8395-479d-ba41-ad26685fca0c phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:a7306fa7-3c38-4eb1-b755-b1d0cc6bf519 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:af19dfb4-c13c-42be-a231-b71b9843fb1d phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ff17acf7-d06c-4d96-b16b-ee152a295809 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:fb117be7-8504-4295-b249-a75bdb2387a2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:d752eb8d-2d81-46d4-a131-01f1ac40ac78 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:c4c7035d-7619-4925-8c27-3be87de9a2f6 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:ac1240eb-a50b-484f-b465-eac6942693c2 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:4c39b566-7579-4061-a7d4-d29f998d3215 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:e279197a-5eab-4f92-b3f3-e8e849b4b2be phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:60869d42-6d37-4e19-8be8-e0d039f979a3 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:174ab24f-a57a-4f55-9572-293e7a0705ab phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:97a4d968-f936-4e40-a083-76b348bd0f8f phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074901 uuid:f1af5991-01c5-4977-9f35-6c821cc4f0cc phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36074901 uuid:ca486694-b798-40b6-95c6-5511d7bc6e67 phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074901 uuid:11e5cbec-ce6b-4220-b56b-4cc9da0a2a9c phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:37161035 uuid:b409a94c-15d6-477f-a88f-da4df3ef1300 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37161035 uuid:0c0bd1cf-2879-47b6-b2a1-4f433fcb392e phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:367d34aa-dd60-4ad1-9d94-cd8fde217dfd phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:c8660f0b-0983-4fc4-9e66-ddaef6d9716d phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:8f7cb2b2-b338-498a-9b1e-26b3c3aa503b phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:b181b39f-657a-4ab9-9304-c1a6ea6b46c7 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37161035 uuid:418d60c9-46c1-4d90-b505-3e42c368f1b7 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:4baf1ca6-1728-446a-b0e0-8845676a4b36 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:945cb40f-3267-48f1-8211-90ba07f88f86 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:437a4b7d-0bf7-41eb-8084-2b4d8663b8c4 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:b8b24c64-d568-4df8-9a0a-c832e8d4bd7b phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:8e1e55c1-265c-409f-b51d-6e065294a178 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:37c8ce59-ec26-4b6a-839c-79b659ead2df phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:b38fc4db-fcf4-46b5-8f64-f1be0580cc14 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:c1336770-1d0d-4888-8b18-cbf38281d548 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:64172b25-1de6-49b8-9ef9-8ff2f37fd4e5 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:aca419e3-604e-4cfb-9fff-779a71f69a99 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37161035 uuid:4fe43ec9-a20a-42bb-9ce7-71f210e3dc7f phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:37161035 uuid:8d0941f9-c836-4121-ab33-6c90d3b18d56 phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37161035 uuid:1b4c88f2-0344-450e-b363-0f0d0ac5aedf phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:344f8b8f-671b-4e0e-9933-e42813518e3f phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:c6ba4bae-5796-446c-8fd0-5d30cdcee41d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35600075 uuid:834f00d0-d96c-4826-850d-8236a637b3f2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:a40a3ed7-77a9-4fdf-8126-0271b9341875 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:07f75241-9f61-4f90-b834-39d90471b6c4 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:918179a1-899e-4966-82ef-d08db6343906 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:06b77a65-4915-4087-bfb4-9339dca55098 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ffbec1d6-4b2e-4842-a961-a9a1aaaf7f24 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:27366319-1a46-4fd1-9c38-801fcbb1be0b phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0139a2f8-449a-41cc-a459-168e5ef2748d phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:0d02ab64-0a07-4d8f-bcee-d25f2d9fd830 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:79963c6e-c53c-4f52-9f79-20fa61da9bf0 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:b836122e-f82d-4e5e-9980-38e298af7ca3 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:db663c1a-c9d8-4f23-bc8c-5917337bc4b2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:02c9691e-4734-4859-b5e8-88e2f000e58c phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e18fd734-f17d-4405-8896-919e06c689a2 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:e7854c23-e79e-4cc7-b14e-db1314e43061 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:ae77a6c7-a7ba-4d58-a5ba-056e03243ef7 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35600075 uuid:f92dd47b-ac01-4aef-ad0c-77a2f9c63644 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_disease OMIM:620465 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35600075 uuid:98312366-6b8d-43e7-87ff-7f31844831a7 phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:has_gene HGNC:855 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35600075 uuid:8bb1897c-a2b1-4f57-aa57-c1a78e90a80d phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d9345614-9a06-4f3b-84df-378f17a469d5 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0f1aeb0f-9543-4be0-aaaf-629326f744ef phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:803288cf-8aa3-4c82-b802-15f7ff8c4f7a phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:79fd8dd7-1234-4d4c-8535-585b78f41ce1 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3e832afd-550b-485e-99d2-5b29188125e5 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4af25ab4-f23b-47d8-8827-f00e930643b7 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:9f5e7d3c-204b-4b43-9ced-3879441028a8 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3237b06c-b915-4208-ba50-7ab3876bd361 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:02948a49-247a-4745-b546-d15054afae77 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d92bd383-e772-4000-a475-ba53c7bd1c7c phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4405dae3-7c6b-4a98-a7da-425935e5a0ac phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a7ccad59-651e-4dd0-8b1e-a7ae78706628 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:370a4c69-73d5-4122-b1f6-c89063984c99 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:cf02fe03-bfd3-4be9-b2b2-554dfbf0a1ce phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:96d1d077-1fa4-45a0-9534-09008e9821d1 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:973788f3-35c2-443b-a630-bdc88f19ebc6 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:eb11b018-f125-435d-8bd3-e9f29a8a7221 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:d8aab95f-9704-4aee-a888-4934f61b20e9 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:059d93da-e0b1-4762-aee1-92958cd7f4d8 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:0f73f4d1-796d-4b7e-8871-31d5de42d3c7 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:3eaec744-6d36-432d-9d18-0a934da0aa8e phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:29e2c9d9-cb73-4811-a9a2-60ff5d35dbc0 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:9b87eb48-adde-4f6b-9d35-657ebcf1306c phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:b8817585-fbdd-49ac-b326-0cf8008dc187 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:648c4ea6-4628-4f30-9b25-657afefc719d phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:e9ce462e-0d07-48af-a634-cb8c7c328b19 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:80839670-b76d-4d94-b891-84764b4c0b1b phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:f531473e-8afd-47a0-be41-7bb7266cb167 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ffc89903-e205-4bfd-8404-50df1bd864d7 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:661bbfde-8a07-43e4-bdb5-cd76426ae215 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c0cbd938-7e10-409f-b3e1-9b47ccf1ebdb phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:2edb8780-dc02-48ff-b652-13162808da9c phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:bf47e4ae-0a41-468f-835f-70075ecf65d6 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_disease OMIM:617403 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:0b798f07-aed5-4fbc-b7f4-609f4565b703 phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:has_gene HGNC:851 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:d9d6cad4-fd3c-439e-b9a1-f7429f1bf01f phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0a9bd843-f3cf-4fac-a66f-7bb5cc5d55c9 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ed241152-c170-4d95-98c6-b0d4bc4bff03 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3f73e948-323f-458d-b9bc-5e24aaa9c530 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d24b733d-75e9-4e51-9272-39e62dc84307 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f0b72bcc-5eab-451a-be26-c5f03de9f1fc phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:400e29cf-84a1-4a2c-9381-67fcc164762c phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:cb03ae46-9b22-4a9b-a25a-60bc332f9a66 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:055c466e-a59a-4e05-86c5-0210d02a0c67 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4ff98898-81ae-4f31-b1a5-008916306187 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0090a6dc-7392-4a89-bcd6-357f212d7463 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:de727b2c-78bc-4eeb-a690-aab5318b78e8 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3f058f06-ea90-4ba5-8cd4-0197974dca49 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:35df6154-840d-4dab-b502-d02f81e92980 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:07f0d467-fb81-4aaf-b697-4984c80b4b85 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:1ca0396f-a01f-44a9-ae63-a99f969695d1 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3e12258e-be6a-48f1-af4b-63501304bef1 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:083627c8-89c2-40e2-a0e9-2fc647dfe853 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:81d26aa2-d063-40cb-b3fd-4ddc1e2d03fb phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:80c42814-c6ab-4939-a261-e6d1262887bb phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:9a0b414b-ae06-43f6-9dae-e66e9ae48647 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:14e67d7f-8f1f-4817-877f-01087080781e phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:dbeb9518-ef3f-4b5f-bc44-5254517a04f2 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bd1a251d-63ee-4b07-83bf-939ce78a2b8f phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d942169d-2009-428c-9a45-4d89b5355b89 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:d9952a4e-6c4d-4db8-bd1d-b4c3d56766bc phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:34b52f6b-4f5a-4f46-b72f-f2089293d3ab phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:503231b3-c8b6-4c1b-8ac2-47ee801c014c phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:73a0bf4d-936b-4338-932a-5b34a03bd1ba phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:9a9ebdfa-c704-476b-a50b-ae78a0b41807 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:fc9ad629-72a3-485e-8631-ee6aee2790f5 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_disease OMIM:617403 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:3402edfd-aacf-4c40-914b-8eeb3037f2d0 phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:has_gene HGNC:851 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:61f20940-0757-4536-a95c-22e3dbf163ca phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:fb9f3446-c2de-4dd5-8948-e35a181e23df phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ac4c1e76-56ed-45e7-a743-1ae1d50ed937 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:aa476e4d-fb06-440c-b4d4-dad833f2a2b9 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:d9029ac7-aa3f-4d51-a804-9548ab51de21 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:1c8f8f5e-2c5f-4dbc-935f-185d179d8179 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6251013e-1022-4cd0-8036-b3894fbff5b0 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:7e579724-576e-4b12-b742-12b1fe61e02c phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:346245e8-0847-4f75-b8f6-d2ba29a15116 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ada6e05d-32eb-4f26-a9ac-0c4e39c3be78 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b8d710af-1325-4568-a3cb-1f581629ad00 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bfe23045-774c-49b0-8aff-bc570f893bfe phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:c588a433-3372-43fe-b751-7a6d4dc13e0d phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c35c82e9-9818-4e6c-b6a7-1aad1a82fed6 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:e4e8b176-2b4f-4a83-8420-04fed46c6750 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ea0a96f1-2172-4f78-96b4-3df55efebc53 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:87fba541-271a-4c73-a9da-b9809f81525b phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:a6c44e9f-6091-48ba-b8cb-840ceef5f276 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ca3cf562-4900-40bb-9312-c18b9892f880 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c2929f50-26a6-4472-ad8a-37152c6af1fe phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:73d291c9-da86-44cb-bfb4-8e5a7efeda8f phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:be4f4707-b1db-4f43-b13a-39f4e7338de9 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:594c7133-f31b-459a-a939-ace0af46ec8a phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:006f016d-54c7-4973-9fe0-0c81f6441931 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:07cc4331-df79-42cf-b64e-dcca43d69d1d phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:1cdc07a6-4e12-4664-aaf2-e2a8f085bfb2 phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:ae2c963f-5495-41ff-8a65-eba29c86b9ea phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:7dc84f77-c996-4265-af4a-736ed48908ae phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_disease OMIM:617403 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:820e62e4-7093-4ec5-a6d8-851432a9131d phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:has_gene HGNC:851 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:1dd18c7f-ff7b-49b1-93a6-432351e274c3 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:85ad4407-cdab-46d1-af62-d5e129c0c91b phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:36caf328-a95c-4dd0-b2cb-8bb7c66e2a70 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a6a55ec6-d945-441d-82e1-5adf0b016572 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5a994486-1cc3-4c46-a689-e938bc3325df phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:4624e68d-2648-4da7-81d2-80fdf8228d90 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b4b2cb32-f907-4e34-939c-90adc9a4b164 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:c01ff4af-c13e-421a-8715-8c9205b727eb phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f3cc6c88-8009-4661-b397-1a1b1996e192 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:9a094fb6-a26f-4bcd-aaec-21f6385da391 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:8034a450-6fbf-4661-9364-181d7ce560b0 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6e6339b9-3566-4f76-8845-893d85a0ca46 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b690d512-f857-449b-a8f6-c3f89cbbee46 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a6d55538-27b7-428f-8d7e-912da7e10274 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:a3088b47-8180-41d5-86d2-8e155071010f phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c4ffc985-3054-4b1d-b95c-1f0253beba6a phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:7243027c-1602-44a9-89ae-ec2004e19ca7 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:6ee58dec-7eef-4697-9427-503ca415e283 phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:cfa31e35-9ea3-4ec3-b528-1c2f988cf44f phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:180fdc9e-f65f-4839-89ad-1425a4251e50 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:93042ca2-feec-4e09-9421-a05b2ecbd11f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:e71d4363-dc2e-403d-a7c7-e9126df0c269 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:5c074512-ecfe-42c7-acb6-b9b41ded6b50 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0009099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:cde12bb7-74e2-49db-b7a2-9a76db5edf91 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0034273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:d06e6bde-83d3-4cdb-afa6-ee1c70b71fd0 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:fcda556d-867c-46b4-810d-5ea51fdb9170 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:01e5f5bf-58ca-4ae9-9626-85545a6d3aff phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:6148a49a-f146-48c5-8b0a-c11aa19a4f6c phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:39d288e3-c626-4670-ba2b-b93f756f0784 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:af90ec9d-96fb-4610-9ea7-80d57dec805f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:8a4e3a33-0e06-4ebb-84d1-5bea3a2b3c93 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:1df7a54d-462a-4943-8eaa-67886b84f4bc phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:1fa46681-72c1-409f-8025-b2aace7da811 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:32a1463e-b6f9-4e2e-87e6-b86a78326fcf phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:8a54899c-79da-4d37-97e1-3ac65c0d085f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:77ef44c0-6554-4945-b399-815e7faf3a3c phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:39ab057a-5588-4702-abcf-89ee2f5ac3dc phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:62d7b840-72b5-483f-bba3-a3be62a54481 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0011648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:46f5a689-c052-406e-9111-e8b5b6f43980 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:853c4970-1bc4-4b2b-af9d-ec871f63a29f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:1a1b3d0c-e085-4705-a3b5-b8fb36a08f96 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:4c67c093-d2c4-4efd-a158-feafe32f50dc phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:cea1b498-51e3-46a4-98bd-56d632e6aa77 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:de0a1b41-565c-43d2-b740-424524fcbb09 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:351fd815-e8a2-4eb9-84e5-7876b60a6784 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:14861faa-5f01-42d7-9c5b-23b568c43e3c phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:e31a32e1-7efb-4b91-bd8b-49c84a947b89 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5d3d2d82-d10f-4ae7-bb9a-a0a5db24f766 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:2c57bb9e-2b83-4cbc-9b2f-7f16855400ee phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:b8933eb6-b733-491e-bd10-97e74228ea88 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bc775cfe-5ba6-47a1-9b93-1691acb550aa phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:2fafb5f7-197d-4e93-afd7-6b629ab6b3a8 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:79fb0d97-4af1-434e-bc39-d9754d64af11 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:e2229fc1-8494-4f9b-a673-18466bfd1e3c phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5874dd83-2e1e-4c3b-a7cf-c2e74f5cafba phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:473a17fa-0055-46d4-9af6-1b6ae73af052 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:1efb03c7-8b6a-44ff-ab7f-78bd0022f939 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:767dff5e-c76f-4dc2-945c-8c41bf81e215 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:6cd54441-d37f-4c89-a3c2-8ed1cd78b93f phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:1ec4b5a4-efa6-4598-8733-bee091ecb0d1 phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:3cd224e2-4999-4e65-b227-0f5b1f2ab5c5 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:c22a913d-0c92-44c9-80c5-a91c3394827b phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0bda5d57-910f-4ae6-be54-07663dadccd0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f1d45136-321f-460c-b6a8-c7518e599b63 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:bfd5de52-b0e0-45e6-b3b1-85d7aee8ebd7 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6f93777a-fcac-4ccd-b92c-e88f570d5a08 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:e91e0b0a-ed7a-4e84-9053-c3e9a06ce46a phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:6328b08b-d223-4ffc-afe1-0867d06a4ff1 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:431165f9-97a1-4408-9765-23f7156416f8 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:595c1af2-b2d9-4fee-8ca1-60be270ea035 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:a4a12da4-3506-452d-adc7-5cf2c0067062 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c95f95ef-ca93-4bb7-bf58-0e1d0bf35db0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:6154dccc-0721-40c8-876e-1b8c391e3923 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:5dd9232b-9692-4adc-8bdf-a77bddfd32b0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:d2cca7e2-6bcf-4ae6-87d4-e13dc17f8204 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:6a4a1520-e126-474f-bd2a-e6cb3eb75e14 phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:001507bb-c15c-47b6-8a23-3ead3216adf8 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:690e93f1-d27e-443b-bd0a-914b3a67538a phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:6c158041-73ef-4575-85f2-b33a57376bb5 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0009099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:743dc56d-7f88-422f-af8e-b10394a2e53b phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0034273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:ee314152-63e4-4161-a6c1-01c6ebe61750 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:e981b089-d4af-4eaf-ad90-5a59a2edef26 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:df685574-5a01-43fd-bae6-fe6733ede4a1 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:3b855563-3b1f-4fac-82be-3e0e98f5ded9 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:279d7abc-c00f-474a-b082-20e144fd71c8 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:03c1a2c4-c312-46cf-bb7f-224efdacb92d phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:a632ef0b-8506-443a-afa4-778546423721 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:dd511aff-9c7d-452f-a47f-3d03fb0b5600 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:ad6da5f3-2dc4-4e32-8194-41b23a1d7f7f phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:b622c3ee-539c-4b75-abaa-edf093f03374 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:78257926-744b-4816-adc7-2768214004ab phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:9850e81f-752c-4762-936f-2371602e84d4 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:7e9618c4-5ca6-47e7-b496-f629aa5a677b phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:bfb50947-d24e-45ec-a274-37563ba9750e phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27023906 uuid:a6c08113-17b3-4052-bd2f-b167f92417a5 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:5f905b6e-daed-4349-bc74-3770988b4977 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:6f00b259-e90e-4e77-a6ec-103694967722 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0011648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:f7e55079-44fd-49cd-876e-594c02ad6923 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27023906 uuid:44a9e24b-8c35-4e6f-9117-5838f9dbf81b phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:7fa6bbf0-1930-4b27-91a2-6c9475b25911 phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27023906 uuid:2ddbf63f-2460-4c36-8bee-ae8a6b246f96 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:3a566d0d-0806-4dbe-a3b8-a55a9ea46932 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:f70fc2a8-f73c-432d-aecc-a76d723a8dd9 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:8b7c5aca-4679-4fd7-8dda-cd1a399a4063 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:02fac92f-e6ee-4fe1-a80e-ec33487e5a3c phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:985cff72-61a3-46cc-b671-04938c6359cd phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:37748406-d646-4817-80fd-48de30b78fb9 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:eb9d3863-34a2-4f2c-bc88-afe74006f50a phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:5491523c-6555-424e-8fed-f8be0da28ee6 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:10b38e6d-49ea-45f2-bd30-91c689aea5c7 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:2e47f654-6a6c-440b-97f5-70fbd90aadd3 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:0f3a35e0-cce1-4da5-b11e-57aa8d6281b3 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:ac8431ed-4b72-41f2-9502-d47f3ef46dc5 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28065471 uuid:10f5d617-d05b-420c-b0ef-52d78cec110d phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:c316be2e-993e-4b5c-96ed-3ed9e211ebd7 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28065471 uuid:83dbbdff-74fc-40be-bfbf-efe784e205e0 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_disease OMIM:617402 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:32a5c10e-860b-4fa1-9285-59cdbdda99a2 phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:has_gene HGNC:857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28065471 uuid:db4a3a10-b981-4c62-ba92-982cded19475 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:3eb4b283-9f49-4c70-98bc-99d86e7bd795 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:0065607f-435f-4767-985d-1244baf61591 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:8760f7b0-e05a-4f87-b661-984f74c31c5d phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:b9e4c098-73ff-461d-ba22-f8ac82639ec6 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:8739082e-d9d9-4760-87a1-c2da84a4dcca phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:2070b767-b927-4a07-a6b6-53f911951583 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:e7c2cf8f-a88f-4eac-b990-6dfee40f3a39 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:ca356166-283a-4688-8b8f-07bde48cffb9 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:cb355921-a808-4078-9ba2-ed33aed1e6f4 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:834d95d7-1b6d-49a7-95d4-bd7b62c8c3ca phenopacket.store:ATRX.PMID_28371217_brother biolink:has_disease OMIM:301040 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:2a19f1c7-1cdc-46e5-98d9-54683fc4aed3 phenopacket.store:ATRX.PMID_28371217_brother biolink:has_gene HGNC:886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:beb49a5d-33a3-4878-9b09-1cf3d5e48bc2 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:3ac23027-9cb5-46d3-8e86-c75efef51dc2 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:55558d03-9814-4103-8674-ec4a92ac180d phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:3d69bebf-519b-4685-91b6-a148219f2c02 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:f7d0737d-9be6-443a-8532-0333df4d25ec phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:0d4344d4-efbe-4a4a-96ad-8fe25ded159d phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:4e844b68-6c5d-4618-b96e-df8106dc2c92 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:6a2e5809-aa7f-40f3-a13c-b20d74334bae phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:9d189d7b-85b8-4636-8a6b-4fdfcf633686 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28371217 uuid:94550fbd-8d9e-4988-9378-fb6cded56e06 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:d96f7a75-066e-4ca4-9826-b5d2314758df phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:1543c97f-8ee4-4e68-81dc-7dbe228ee2d2 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_phenotype HP:0000033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28371217 uuid:90ffd2a3-6300-47e5-b348-ab9aea48758f phenopacket.store:ATRX.PMID_28371217_proband biolink:has_disease OMIM:301040 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:895795fa-01f0-46da-8eb7-b3aec041a980 phenopacket.store:ATRX.PMID_28371217_proband biolink:has_gene HGNC:886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28371217 uuid:654add16-90fe-4dcf-bf09-80a660b6bf11 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e91352bb-871c-4fb0-ba97-c9a6718d2775 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:358d4f6b-b320-4d28-87f6-b60ba1ab1f23 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:cffca489-c1af-4919-af77-912b5a364e88 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:23134820-55f8-4141-bd7e-20f1b2ec9239 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:9e3bb5d6-b97a-4e9c-b9df-8b9d2bd82f41 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:b375f528-b832-43ec-8ee1-2c529ecb31b3 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f0d7207f-8fec-4640-807c-9b351f5ef02e phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f271a841-895f-456c-8f76-adf327677fe4 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:29e36108-efa5-49a2-94b8-7aa25f3c17b2 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:60a82e56-36e0-4478-9d70-756cd0d67c24 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e048652a-8f63-4bf4-8bd0-37a17f9f4ea9 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:616a57fe-7df8-4f5a-8a24-e84bfbe87c96 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:6c95b061-9fa0-4bca-956a-0956b93cbf4f phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f9da1e0d-ed91-4f9a-831f-dbdbec3f7a41 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:49326dd7-8cf7-43e2-82bd-c698c8ce003a phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:630ced7b-fe72-4ec5-acee-be8eac160000 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:fa929c48-8b28-407e-93a3-c376c931cfd5 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:72c12011-8613-41ae-909b-ed8d9e69251c phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:bfe63055-a75a-4f26-886c-9b03993d0cc4 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:0e2d3422-ea4d-4225-9b69-d16b57516021 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:4e361167-c0b2-4aa2-b89a-aae12ff3146d phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:c5b83184-5703-4ef7-aef7-41aa003a2500 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:16c06735-9d42-4f9c-a314-92591a423420 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:e4adb53a-17d1-461d-9865-6cfd036d8b29 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:0b16f120-b3b7-46b2-b925-aa805c04db74 phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:609d34f4-410e-40e5-97b2-390fe0a824d5 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:d0b034b9-427f-443b-b8a8-f3fa1e7bf2a2 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:34a9ca37-3c2a-471a-8cbe-8f6ed568e970 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:fc7cf58b-1792-400a-8441-ef19ed049cd1 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:01be3324-46ba-4ef3-8bec-aa1ba952db37 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:76229b77-781e-423d-a9c1-20a678328c14 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:0291bb5b-e5a3-46c0-8111-16b1433af9ec phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:68bb6361-7773-47dc-a4a0-9cd8a9e37030 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:146bed9d-60d8-480c-b915-56ae6f87a23d phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:c810b2a7-e6f2-4681-9037-ccac750af833 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:d8020f28-ba49-473a-9c95-522428751904 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:5400efef-6453-40ad-991f-25bf7e2f8b61 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:2dabc75b-cbae-42c7-a307-69521340756a phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:9b54eeca-c9d9-4aa2-968f-b42e9eebd24a phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:fcff0616-9c31-4f03-95f4-52f61f457d11 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:cec90805-7750-4919-ad87-82dc7f14e17d phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:fe04686a-baef-4980-b18e-d601d77aee23 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7dafdaea-2202-46a4-b612-6af86db3a7bd phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:54b4c1b3-4a5c-4dca-ba88-da2ecba8f6d2 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7fa1cc2c-6c1b-43a5-88f7-16a2306c81af phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:b155d5f1-0a13-4d96-a6f3-54aeea098c01 phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:17e3a6a4-856d-4a91-883c-533a75c88960 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:9dff079e-373c-479e-b5cb-2c8c953c4b76 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:2470cf93-5091-405b-bfec-b5087ec171d0 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:eae2abe6-cd25-45fd-8127-1f819f39f863 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:4ac43959-9937-4dbd-aefa-2fb47300e606 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:6489efdd-3ecf-4671-9422-37da6bd0cc8f phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:5f56ed85-d135-4bbf-bb29-c1c6a6d0d277 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:bbfff6b7-58a2-4868-bbdc-7340fb9a27be phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:d92a635d-5383-4b68-93f1-796620750296 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:99f9b1d7-8568-4059-804f-54d17c211cb0 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:fc9faa4e-8aa9-484c-b906-4635503bb587 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:7c3797cb-bd3d-43ac-8d58-bca362a89794 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:873d836d-a4f1-41e2-be57-f305b58803df phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:cfddcfe8-a87d-43dd-a5f8-4b47b213541c phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:834c97ab-15b0-48c4-9bfd-e316cc3bac0c phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:0a92d173-2238-4467-adbb-6820db1860a4 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:f56b92a1-b206-4f87-9bb4-814fa7828c33 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:30c6b5e9-ba97-4934-9b06-a98abc1bbd1a phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:daca66c3-2ec3-4622-97db-f0e99c5ca430 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:8498b69e-9563-48a8-b69d-f98aefe57d0c phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:de239df6-d228-4e76-88cf-d1c469a2f972 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:1499fe73-25ab-41f7-9dec-ba3b151f80f3 phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:b3a8cdea-feee-46a2-b1bc-f9dc27ebaa0b phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:0a7edf52-7fc1-429d-9e6a-b34d8d67304b phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:426324b6-1663-4073-a436-59d2b6c16c01 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:a21a070e-c414-4715-b115-2bb1ca60c8fb phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:9a6ed933-3855-4a1f-8cb5-6c4a1b6ab66a phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:ae203204-01ac-4706-b550-2fe5d3def79a phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e1cea9f1-fdaa-4750-8377-a9aafff996d0 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:1a790d63-31fb-45d9-9749-b19683faf537 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:0a919158-86ad-43d8-aee4-a4f40c58aba4 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:74c070e4-e7dd-4028-91e4-bfead35362b1 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:6dce661d-42aa-412b-9244-98571f68c2ce phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:143759c7-5716-46da-bec0-73cc039c993d phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:7ba3ce4e-bf7a-4bdd-b393-722a8a786619 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:f4da1a5c-aba3-4863-a75a-660173000597 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:def820f5-7093-4b38-a44e-43a9145a878b phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:644ef0a6-4332-4197-bf35-b7d1bbc572a4 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:2975f219-897a-4188-9000-373aa4be4bbe phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:5ad238c2-64e0-4a26-8cb3-195b23baf557 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:62113915-7ac8-4659-9b1f-f7df6cc56f4e phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:78fec31e-6004-4f5d-b739-57f8d4f1d46e phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:4b4b6a50-1051-4a48-a128-113bedbca20d phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:0a14fcf5-da87-49f1-b82a-012ce90877d3 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:39cd93ad-2d0b-470b-b06d-eb7fcd921828 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:c2e109c8-f028-473d-aa9f-184390378071 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7af0e097-fd27-44ad-8d8e-3f570c38c55f phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:56978ad7-d669-4b49-89e2-bc7fca859f51 phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:cd1c76a9-aa21-41ee-bd4f-2120716f334d phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:011450d7-dfff-4c04-884d-95c1de4fd60c phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:b9a58ec0-938b-4c1c-a8be-20e0310492d8 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:5724afc2-070e-4744-a39a-595e12b2d5cc phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:bdc79a98-ff7b-4eb6-a2cf-d49fa8dc9f59 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:12643ae0-a0ec-4fef-ad8c-61e33181027d phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:d199885d-500e-4265-aa5c-eca9b035438a phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:640c1c20-7f06-4cc1-b814-1556068dd7d5 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:120fcffb-998c-482b-81e4-9632b0bd75d1 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:48f48471-ecb4-468c-a459-59e236b22726 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:09100412-7c57-4038-860b-d2fa41d63287 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:5efd7919-da57-4902-a3b5-c5c8df1f177e phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:5c4faecd-abbf-4eba-8f5a-28eb5d8645d2 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:bb4eddcd-f333-4967-9773-9b7b11020213 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:a3b6b79b-369f-480c-9e42-497644796d1a phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:00f537d3-e12f-457a-ab9b-0f2c6589b7e2 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:4d0234f0-20c4-459d-86f6-f6a07c15a3f9 phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:650c8010-4521-4d43-b42a-95c114de9b4a phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:96d0a082-7c15-4811-83d9-b1ee28881bf0 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:27bf3eec-720e-49a0-b771-5823eda82bb3 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:a91bd5ec-1495-4eeb-addc-2c06c385dfad phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:15276711-5bec-4552-8b8f-1103c5ca39e4 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:2fb942b7-b041-4653-8387-84c3812b4de1 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:513ad874-e001-4968-8020-6d51e032eebb phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:199c3f41-00d1-4330-a088-1b0f2630b70c phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:1268ed36-60ee-4341-b669-37a81a957478 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:09908486-5e5d-4170-9546-86b0f270e2be phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:90e824df-38fd-4d5c-aadc-84df5cf6f89f phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:2e2f2f01-9bc1-4664-bdd3-e79eb5b8d675 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:be5d7b01-3ea4-49d5-aa88-027ffabbf230 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:4970bdb6-a244-415b-9000-06dda35ee95a phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:eaa29bda-ab15-4541-9b2e-68542db26667 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:e46c3a0e-c2b7-4351-aef1-d3cfc65f6396 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:9c372daf-6bf7-413a-8a96-b682cfe51bc7 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:f446068a-9621-4f5b-9538-cb3b20dfead9 phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:b138328e-f37b-42cd-a07e-36ee9cda0cfc phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:5ce2758b-913b-4781-bfb6-9db09d0a195f phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:753fb742-3fa8-44ec-b63d-27b1bce58820 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:c637d844-9bce-4fab-a715-9b00092f8a7d phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:4c0c5949-3e03-46c1-a041-b8e809472ea8 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:d2313fb0-0709-428c-9f8d-2b56e3412928 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:1535e847-3416-4467-80ef-5f5649095192 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0004618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:19df21a3-1663-4307-8e08-808606950561 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0000935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:c9453c72-4486-4bb4-9e8c-f2db2d0bf6e6 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0100670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:d55d36cb-9097-4a8b-b325-335758aa761d phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:b08c9850-4ab1-425a-bdbf-61e6142b241f phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:e55da4b2-dea6-4d52-b6dd-0330017bb74b phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37582359 uuid:dee1a2b2-c033-42d6-9cb8-353e16e5efea phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:99c9c29d-39ed-4924-97ef-efc6061e877f phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:979e98d6-a09c-4014-90ef-64d5ebb3e497 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:df88b375-a858-4edc-88d0-39c2ef0a8731 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:4f5be7fa-05ef-42e5-bf95-9089814b8c57 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7b657fc9-ad07-4c44-991e-c5fd9aeea2ec phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:52f09f1e-272f-4607-80d3-84339fed489a phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0012541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:0eb9901d-1714-4e94-9d90-0381a2c09019 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:2c26e7d6-af0d-47af-b29b-54206f9b8ca7 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0012731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:0fde4316-5e4b-42c7-bcf0-220987fcbd0a phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:7c9ce092-7cb7-459f-b975-5f7590978eef phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:5200001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:e41dc542-e45c-473c-aa0c-57b4c6057a4d phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37582359 uuid:42d20154-3f6b-469b-a85a-7f18bc5ca4fb phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_disease OMIM:620558 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:edb92505-a32a-4df8-bf3f-0fe2ad964c60 phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:has_gene HGNC:903 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37582359 uuid:12e5101e-a92d-4858-897f-71f33cac1ba7 phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_phenotype HP:0100292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:6d9e54f8-1f97-4bec-b47e-3c701df7403e phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:785f75b2-8018-4573-bd92-57533b4b9f8d phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:ae9639f0-cd42-4e9f-b96b-23ab00e7ae77 phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_phenotype HP:0001824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22693999 uuid:4b147d5e-7bd4-48cd-a232-7eab60acd635 phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22693999 uuid:982865ca-bf0e-42b2-b972-3373552eba93 phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22693999 uuid:992619d7-a3df-4625-afc6-f6e9fbaae95e phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_disease OMIM:620659 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:173500c6-5fd6-4092-afaf-b3bc9eac98fb phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:has_gene HGNC:914 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:e3e373ee-3129-4cfa-ae86-073773222bdb phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:6d8510cb-425d-4732-ba0c-a38984940e1b phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_phenotype HP:0030843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:778d40f4-3754-4e0e-9be8-fcb3713dcd23 phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_phenotype HP:0100292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:4a269a23-60d3-4a64-b293-f0a48d7586f8 phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_phenotype HP:0001824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:b16b8d90-8efe-4776-9941-3a79eb860e96 phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_phenotype HP:0001278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:25215d7d-0707-4eda-a575-103b0bdb250a phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:8c083f7e-0f86-4b0f-991c-36e375dea671 phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_disease OMIM:620659 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:c0e53c71-cae3-44c0-ab22-50e4483ffe89 phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:has_gene HGNC:914 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:c9e3054e-07c6-404b-adc7-67d222bf5eff phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_phenotype HP:0100292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:bc7a8bb9-a7d9-404e-984d-4615a2e18561 phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_phenotype HP:0001824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:007dffe6-4a59-4ba7-984a-5831024ac3ad phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:4e3fc026-dd26-4fa3-94ac-2a39d6cc611b phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_disease OMIM:620659 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:3d8341a8-37ad-4af3-9c96-d5e174366c2c phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:has_gene HGNC:914 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:fc367cde-0e05-46eb-8001-26ad32933e19 phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:has_phenotype HP:0100292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:8576c2bf-552c-4373-889f-9a36ad8570cd phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22693999 uuid:5ddd2d78-22a8-4f74-8069-4890b40b3eef phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:has_disease OMIM:620659 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:4e3f9c09-b480-4244-843d-a5fd4d6e74bd phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:has_gene HGNC:914 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22693999 uuid:14fa4a41-0b1d-40b4-bc18-d36761c1c2fd phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23664117 uuid:06e049bd-613f-4ddf-b65e-d590383ee91d phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:14593f0b-42f9-4380-956b-73810a630eae phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1e79241d-50b5-4104-b99d-ce4b4790baba phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f730167d-24b2-418a-b041-83d1ca54a1c0 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ef078639-a645-4abe-a16b-d5606f58e76d phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a9e82ffe-0b45-4e10-8ef4-092bb801b1c7 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b8506a09-405a-44e6-bccc-762ed76811e9 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1661b3a8-18c8-4e2a-bd08-e40b6e5016a5 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:63c189ab-ea55-46fb-981d-7ea073d34f0a phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:fdc4d9b4-c964-4c2f-9b66-b24ac70fcc9b phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bd7885bd-3a80-453d-933f-825bb1c223de phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:4076c863-5eb1-40f4-8e43-d0c0562d29bc phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c00e85ac-433c-449d-88b4-8dcabbf008e4 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b4357c46-5bf8-4abd-b551-e677192cf288 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:6cbcd839-8bfe-4a83-bd47-7b78b8da8c7b phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1355749c-d097-4cb8-8cf7-05b26982323a phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7cdccc42-6ff8-4dfb-9231-aed983f0c468 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:11aeb52e-61a9-4330-b085-c3059985b405 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:cd10b4bd-61fc-40c3-9f6e-691431e68de4 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:82d99ad4-bfb6-4251-a341-834d760a81da phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d3dab924-35a6-4519-b2c8-c4d3bb81ef7d phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:18a5cfcc-4d60-4e3a-a6e0-67aab3b66a1f phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:7d19adc9-95e2-486b-bb78-9aa9733019dc phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:fbfa3bbc-afc0-4c34-ac08-d774c69a8235 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b54d2997-c379-4efb-b8de-c63c272fe856 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:390dc1a0-49c3-481b-9c18-65a527e746a0 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:50cf8fac-a3c9-4198-99bf-ddab348ffb58 phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:a30e3c99-e116-4a8a-ba2c-0cf24ef89a7c phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c5c45e26-7c08-440e-8329-8af99bcbb24e phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:73f2b3e9-bf90-4dfe-980e-d6938a069bce phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:9b72bdb6-8d9c-4ae2-87d7-3b34a4894ade phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:755fef0d-2090-40d5-803a-4d651f43b161 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7bb54d7d-739b-406c-b08b-88a3c865402f phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:572512ff-1d83-47e5-a87e-c56ec36dae07 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d24e50b1-641b-421d-8700-4bf33b2e6696 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ed2f50a3-425f-418c-9260-7b060c128ad9 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:40f53e6e-f580-4061-a220-054ad5c3ba1e phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:345a01da-09de-4bca-a45d-1e21763f44e7 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:878032aa-6000-469e-a0f1-b3db24b9d04c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:892e3cd6-6d70-47ac-a947-ddeeeb571a27 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:900ff0a5-b350-4e69-b010-a10358bb367f phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:fd9709ad-ead4-433b-b3b9-3484cc9f0e2b phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9376327e-015f-4094-9f88-85c4d5984f67 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:69c77cd1-eda1-4d62-ba09-e34e9a062cd9 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:babf972d-c84c-48d4-ab08-c522f0db0b0b phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:4317df03-c886-43d5-bfae-184c3b51052a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:456200e6-bd00-475e-adbb-2303f277262e phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:aa006f02-84fb-4934-850a-83bbbb13061a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3a927377-f714-4aa8-983a-6d14783ab076 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:516886de-b7e9-40b8-b3d8-adec2fc60d8f phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d4d99834-7762-4204-ba92-f59449c2e1a8 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:07626d50-ef4a-4d75-b78e-818f4de25ea0 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:8f118ebd-62a6-4c36-8358-46f0badc4454 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9e4c01f5-1256-4578-9ae7-caf566b90e41 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:0de41d27-edf7-4911-97a6-b7d792bdbf50 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:1ab3b781-d7ae-4ee6-8452-faf505a85a8a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:858d765b-8b4e-43b5-baeb-7b3495182e6c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:59fd6bb0-5517-4560-91db-424dc7e50474 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:7a2c1c2e-23a2-49db-ae6b-5b0611b8c270 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c820feed-16fc-470f-a70b-76dc35c684c3 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:f6f89432-1d23-46a3-8a22-2f0ace5dd5e4 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:6068b727-258d-4f30-818a-5c0bf9b97270 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:23664117 uuid:2112eacc-a65b-4d1e-b0c9-0cd4837846f4 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b632ad52-c044-42c5-a0b4-39932a95ef02 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f5098ad5-e2e2-4702-b655-3b99519d8fc4 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:88ff01a5-8594-4f1c-8999-fbf3ec5998e7 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:db8fa8ef-2cb3-4baa-a2b6-09f3a4322385 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ca135b8f-d89b-4bae-8ff8-a8b5ebf88f0c phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:e65c2fd4-2cbb-4e96-815b-6e039add704e phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:6e97dbfd-dfdf-4ef7-8fc6-885fdfc760eb phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a8c7071c-e5a4-455e-a967-5f3e1074b36b phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:dc7b8805-5bf0-44c6-93e1-5a7f378e147e phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:e700cf84-c1d1-483d-b4b8-b1811b3fb336 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:beac87ce-ed2f-43f4-abfa-715976ea7501 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c70d6e3c-1c11-47cd-952e-30e8f107abf5 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:974bfd61-012e-454c-93e8-054af340227a phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:73ee5c94-5a14-474a-9378-712731dba9ac phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:62e9de6f-2ea5-407a-a900-06f9cd5fc1fc phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:99dc5651-068f-4923-943a-dcfd63f1cc13 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:97db115f-6047-49b8-aac1-14554d906666 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:fb47a8cd-8aa2-4cba-9eb4-536c724278b5 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d31935a6-0730-4a03-8760-d7018d5da874 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:3cd31a81-fc17-41eb-aa5b-fd2cce4a6280 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:61e7aed4-dbb1-4c4c-b9be-eb3b690e6c56 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:dda49319-ffc7-446c-88cb-c240869ea84a phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:f3620446-2e69-4c78-9255-e271543e4100 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:793602e0-1495-46be-8ea5-7f58ccdd6684 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:067479e5-b923-44c4-ac0f-0a2bfc7896ee phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:15b73b0b-1cb2-4223-8569-b209cb7b55f0 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:46d384ee-edb8-46c8-b2ee-45fea8dd2a68 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b839e235-8d74-47af-b4a9-8095779de659 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:062e8ed4-cc27-4d6f-8e21-73a7eab47629 phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:768b687a-b6fc-4683-adbe-619b6096cef7 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:23664117 uuid:6a986517-58bd-44c6-ac32-3d0a9e3ab278 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:72a6b68e-4f69-4f57-8ac0-56c609389bd2 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:344b9bd5-933f-4b6a-a1f9-78b99ca0ee60 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b3d77c5f-06e6-410b-8283-54d8c660f4db phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3c00ef3e-6d57-46c4-90ae-1f411e18519e phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:288bf8db-fea9-47e4-887e-6be564ec979b phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:17978e61-1f5f-4045-acbb-153a90831f4e phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a549ad9b-a127-4c9e-8b9b-cd567c65a96b phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:6243bdb2-e171-43c2-89e3-1bd7efd1e80d phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:548e7a1a-097b-4817-98fa-b9705e05ec79 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:87507882-e93b-4494-b7b5-d0d5c0485de4 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:21f15017-f794-463b-8333-9e8f36f89a25 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:cb8047c3-37ad-464c-a759-73617d5d5202 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f6536090-6ece-415b-b326-0ce4d1f33c3b phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5840873c-90c5-482d-8473-65d262adc7ab phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bdef26b3-b178-4368-aad7-bf6c9c67703b phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:707874f0-cee9-40c2-be62-aa66aaf80653 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f05db50a-d0d0-4552-801c-c7fc7762a23b phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c78ad178-7c8e-4fec-aae8-046a0486abcf phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:11485ae7-b9c3-45c8-9418-43b7bc3cf2d1 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:2d03cb61-420f-434c-8228-6d6b599a39a5 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:75e89201-ff56-4677-b1f3-331745754b67 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:150cea2f-c4af-4b26-bb00-81049126bc7f phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d4b9c12b-4476-42d1-8ddd-ea647c27a46c phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b2ca1ffc-635e-4376-8b02-1feb3b9fbf03 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:3d1c133b-088b-480e-a429-f0df333f6f88 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:4febbfd7-65d0-4883-90bb-08a290f77629 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:07821a40-1a4f-4d1b-86c2-bf4281dbc9be phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:0d8c3281-b321-45bb-9744-9e1eff94df4e phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:54e36b48-d5e3-46d4-932e-1bcfe402cc08 phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:2f41ee99-78ef-44c8-b871-b1189b872cce phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:23664117 uuid:75cbbb8a-5619-49b5-ba12-b16bbf2cc4d1 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f3173fd9-4951-4ec0-bac9-35cf8ed8be34 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5d1ac8ee-979e-4a38-8b0f-1234d42c9b39 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:2e5f10de-5ca9-41ff-adee-365201df7190 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5d86126a-c819-44ab-839f-bcdedbd79eac phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:87cd65a2-fca1-4cd8-8f7d-e6c0c4c2096d phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3ac4713d-2867-4f43-a182-a802cbaf0f40 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ff7394de-d0d6-4494-aec0-af054800460f phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a7ba084b-c517-4f53-84fb-927a15b9104a phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:7d064024-7155-4ac3-b3c4-061e3c1d2e61 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:aac03a78-4d4c-49e9-86a1-273e40faa3f7 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:087da360-5f9f-4c60-8935-e14e937c8439 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b488f359-f6e7-4f84-9786-08c3cd8f4b99 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:32aff392-8085-43b6-a2cf-f3dbbf04f548 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c46f54d5-cfb4-4d87-bc72-8872a0d89322 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:6f830722-4e7d-4269-be0e-df4b2e62fa81 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:17a0a814-2dd8-4115-a761-8069acc48d72 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:a0ab9434-6e2a-45b1-87a2-fbe20ae3a579 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:f2e9e2a3-b086-4731-b6c0-b4409ea83926 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:ddbe0af3-a05f-420c-a667-8705796f03e7 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c7709050-b4d2-41f6-9168-0202b4cb03ba phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:ccb6d784-e331-4b56-a4c0-6b01561039da phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:4b9b3334-7e0d-4532-bfba-4d54e99b75ed phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:f97ba76d-3881-46c3-8441-a453aecbca4b phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:53ba46ec-284a-4713-aaa8-2d1afc54f7ef phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:9e4e6c7e-ae4b-4983-ac3e-cec6e6097f62 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:09284c7d-6621-4b21-a824-14ecdfec7e0f phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:6ce8a5a5-e3eb-4fd2-afab-00fed85edac2 phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:fde9c293-f7e4-41f1-be14-8fbe4df5e0fa phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:ff0d2cd4-f6e1-40fe-b8be-5b4a4a9a9ec3 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:23664117 uuid:a23ae99a-d3f2-4e85-955b-991efbb79502 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:15de6e92-1c18-4eec-b3d1-118bd5089d55 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5f604da0-3141-425a-8d71-9e0cd6b20264 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:0674bb20-5380-4696-bf0f-92eb5c7e9d1d phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:69442348-9767-4bc6-8169-685686e3d0ad phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:0a1e86b7-e2b1-4494-a8cb-e6c8c6b1bde3 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:e2fa056d-beb8-4cdb-b213-65b489834a47 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:34172bde-6c75-4958-8d13-8610d8988af6 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:4e2826da-3406-4f98-9883-5f41f5168273 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:26c1c892-0b40-40c6-bc5d-5be42a3447d5 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:2448b1f0-c58b-44d4-b60a-abfed31d40cf phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:60d68353-7d35-4ef9-92d4-dbb1ac764e7a phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:e84a1cef-8c4f-420d-a24f-823ed9b15f63 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:23664117 uuid:ae6ccba8-8982-407a-ac22-1dc9e9720320 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a034872d-6384-4cf9-a913-e74a7d8db307 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:19ebbeb4-d939-46e3-a131-a5c782202b06 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:8d97d750-82b4-45e9-8da1-c967b55591d7 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:cd6f5080-0889-4f90-9257-8606d97e7525 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:59bf196a-fa1e-4441-ae1c-96832d9cf1f6 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:d10a34da-3de9-418a-8ccc-16d28c0b82d1 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c5c83894-b243-41f5-a226-581f276cf44f phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:8bea999c-b9d6-4a32-8394-c625c4c661a0 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:eb3b5cea-1fdc-41cd-bfc4-2a683ab3edd7 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c05bd96f-f228-495e-8345-d3d28d47afda phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:5b6c9d24-2fae-49b3-b071-ad88bf0eff7e phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:04113874-cf70-4e0a-9b0b-8fab5123c05c phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:f8b2a411-b2b7-4357-abd5-feeddadd0a2c phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:4b229558-6754-49c7-bcaf-66d2858c77a2 phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:a819e256-5a4a-41e7-b3cc-051f7d775791 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:640ed22d-468a-416a-8647-32c0be411f8d phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:77424438-f93f-4fad-9010-b7d23fa768fb phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c86d63ed-3697-41c0-b176-7086430fc67c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:00290856-56fd-4463-8df6-5a87bba2b88d phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c7072506-9fe2-452d-848b-f6bc93a16d9c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:03487430-cbde-4b01-862e-e9e2717a5325 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:56b9951c-d9f0-4f1f-9387-a1a7099d117e phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:fea80839-6634-42b6-a8ec-d96484279677 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7b32d0be-93d0-44a6-9afc-a2407daf587b phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:74af58b0-6787-4c02-98bb-d655db19bdb0 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:152cbd58-4ef6-407c-846e-ec5b85129f69 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5cdda51a-187d-49a4-982b-74bf3eefcd5d phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:23ae4f44-5a31-492b-b4cc-b55d6bfe3f89 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:785df54b-503a-4825-a330-12e887336431 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a24a54f3-92d8-4ef3-9c95-a532b3d561e7 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ccb0a824-e8f1-4596-b9c9-87ba4aa5e46c phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:1f30817c-60c5-4e76-afbb-39ac79065810 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:2b6d788a-5652-4a2b-a130-357cf83b4c7d phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:250c04d4-7c4b-4c22-a13e-e84ec01d7bc3 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9ab5fd4a-893c-4711-b00c-49f64abb8d82 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:11134b63-bde0-40e3-a8ec-ee308dfccb4a phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a0efbaea-78fc-442f-a69d-1db8ad5459a8 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:4e554d2e-6214-400b-b4ab-c4adbe273534 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:80714d0e-eaeb-46e7-8549-22a36cfea406 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:da205c6d-7e0c-4817-90af-02981192dfa4 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d9f1df2a-12d0-43fe-b6b2-e55669250472 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:050367d6-e347-43bb-85a2-39fa02eee3e0 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:39b80b4a-7010-42db-921c-1e8c456289c6 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:8fd6d77c-6ead-4a53-b008-04d1b1e972e9 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_disease OMIM:615349 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:b1b96fd5-23df-4578-a0a2-27529c331c65 phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:f0d8894a-d474-4ea2-aad9-286cde899d81 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:23664117 uuid:1dd1816c-4e59-4ad3-9fc8-9fe881b23be8 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:9cee4198-a93d-40d1-9c27-05036d50d099 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:225b9c51-3ffe-49ed-88dc-2fbb2fb94a93 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:b657745d-42b3-45be-a5ba-a52b2923e3c9 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7a611dcc-540c-4364-a737-183364acca93 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:79bade3e-cd15-4bb3-bf8d-2626dbcb2d45 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c0148465-2a69-4eaf-b082-d30571c7004b phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bdda57c0-c63a-4e53-98b8-1df2a6f7d639 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:07e625ea-69e5-4255-8ca0-162a8ac5a625 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:533ae348-417e-4710-842b-5a8f03734851 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:c917b3b8-fe61-4529-aacb-4deff4e954f0 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ee9cb450-0f81-46a4-b4b0-69dcc6ad44e9 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:24fd1ac5-01f7-4884-818f-3f946f40de76 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3a2be5ac-19a4-4a6b-9d3a-c44c95c8d133 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:08e37e10-de9b-48eb-8b0e-5632d9e0ca12 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:88fc577f-3195-4751-8e00-960cc91bd42e phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5c8268a3-7581-4d93-860f-36b537b21854 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:345b61ad-2934-4c5c-a77d-8eaae64c2655 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:aa27366b-96d8-487d-897d-8f40f7bf6bd0 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:431194f1-9ac1-4a29-8eb9-66c8c1b43254 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b2765329-c5a5-4e3d-a591-cdd617dd026c phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:42990c12-5c74-46dd-91cb-ecd283e925c3 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:debec440-1404-4e7c-8906-1019b024a877 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d7634c7d-5a0f-4cfb-aabf-25f6aca88a22 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:47b8b659-1c84-4f9d-b875-87ab96c9f82d phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:86afd56b-081f-44b3-bb00-0fce924e11ad phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:50bf6daa-2b0a-46e9-a954-3c3976060389 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:3d845f39-59c1-4556-a7e0-01f9061c021e phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:bf85bd5a-b487-483e-b638-c513559384f3 phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:4a35c2d7-aaaa-4d90-9550-74d9a6360f9b phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:2417823a-f7e1-45e4-adf7-9e016de05e8c phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:23664117 uuid:229718e6-ce74-4ec7-b545-088d139871c1 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bcd2d8ed-e66f-40a1-9dac-8ab1fce85884 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:22cc4f34-bdf0-483d-bd78-7cd5c4969a68 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:85b524fe-e2b6-40ef-b598-f416d3455a68 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:6d50eefd-1e98-497c-93aa-af7efeee1883 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f86caac9-49bb-435a-969a-591a53f348dd phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:dadc230a-6638-43db-9ee1-c4907fafa298 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:25c846b2-de32-4024-833d-0bc5a5709057 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:24cadc4c-2657-4527-a36e-2322de9b83a4 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:3984d52c-7f7f-462a-884d-64661d160dc3 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:f3c8a8a6-1d76-40f8-b10a-b453078dc509 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bbe69826-0cee-4f1e-ac01-fe9820eed8e3 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:74281672-2f41-4ee1-8261-fa97277e9b58 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:466776aa-199e-4bbb-bb06-e66c2be3f2b2 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:986adec9-6693-4413-9a2c-965b2129c8c1 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:e713fa9b-2a41-4633-bad4-70896598c0c2 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d38ccada-b7a1-4848-b800-2a52fe22f9ff phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:db91e12a-18ad-45d4-83cd-ad9dddd4b52a phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:9f56664e-cb6d-49c8-903c-80896076ca5b phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:af092cd4-24ca-463c-90cc-0e9aebe0f595 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:953261fc-e228-4cd3-a6fd-3a8757d5ba8c phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:edf08258-75a0-4351-b3e3-a7c8b4f2b8b9 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:2aedfafa-1d33-4257-b8f9-69841e9581db phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:284b3a84-bc0f-4aaa-9d7a-96f16588ea00 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:dc434d9b-a838-4361-adeb-cb5a89b7fd44 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:c781b1ae-2a49-4a02-9deb-27fc1f10145f phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b372237f-be11-4a20-b203-b8d168c50aee phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:316c3c40-a07a-4778-a3f9-7f32bb9832f5 phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:6a03d0f7-4fe1-4317-9088-4e9042a177ff phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:c6b72828-84c0-4af9-8290-9af7f89c07da phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:f2890b41-aa70-4add-8310-43d620bc1f70 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:23664117 uuid:23e45c5a-b85b-4968-9411-a90e7e26579c phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0010575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5a6f6325-a70e-4c84-98a7-950aba95b906 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a9e24239-9fd6-41fa-b5b0-1a5600f7b62d phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:44a9840e-eb1b-4c18-ba4d-96abc958c849 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0008824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:cc04dbb1-bdc1-4df7-a466-18bdb1a6b467 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:e8f2b1c7-6a2d-4c71-b100-ef50539dab83 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0002822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:2d18cad7-6d82-4b71-ae01-89a6b2df8474 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:a2dd480f-dda9-41f7-b4ce-cc07be4457cb phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:5811f33e-ea27-4ffe-aa40-3aa4d1cb3710 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:e8cd6f67-6f18-4e25-98fb-6dededa9435f phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:bccee565-20c4-49e2-b0ec-a3b5e0c32959 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:2caad3dd-fdb5-4ea0-9c06-4310e9be944c phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:7b1b9e58-0025-472e-9990-48ec5e7877d3 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:449824fe-98ab-46ec-9a65-7cadb4d36f8d phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:37291c84-48a5-42e1-be7f-3b88671982be phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23664117 uuid:ab4284c2-dce0-4de8-84b0-23aef0676779 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d5e2c8e5-7795-4fb1-8b84-01869d3aafa6 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:908a7c5a-e6a2-4cf4-a146-751339ffa412 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0430047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:d1723889-a809-4d32-85d4-2df3c9ac698a phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:95083fa0-982f-47dd-820a-951a71d9795e phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:82ef50dc-8f8a-4fd2-b0e1-62c9f97341cc phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:fc0de2af-79bf-4994-a3e0-6db0ab6ff444 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:33cc7c86-0fe2-4d8b-89af-6485f53e40ae phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:75cc5b31-5da4-4728-a9f1-1794e7daaef2 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0009702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:2f7bdb52-1617-46d4-9d6a-c7ac94968ff6 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:b06bb726-5f04-4e81-9243-c0c66132518d phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:3a6d9a4a-e97c-4d6f-8bf0-abd8904ecb8d phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:4d6c1903-046b-45a5-b8c5-74888fcb2656 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_phenotype HP:0011341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23664117 uuid:149cb13f-7ba2-4804-9741-17c68a70df91 phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_disease OMIM:271640 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:a8f397b0-030e-41e1-b567-18084a266eee phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:has_gene HGNC:17978 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23664117 uuid:5e88ef95-6519-4e40-a2a2-a27266def7c1 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:02eaa503-e50c-4bd3-b95d-22a322c426df phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:8aed0f90-9462-4f71-b095-445078689bf7 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:77856619-27cb-43ca-b989-b507c545f194 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:d3c8ac39-f7a8-4dd5-9623-7654fdcb7457 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:c68fef05-f8ca-4909-8f52-cf287ab238b6 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:9c5fd8a7-5b13-4983-a275-ce39628ee324 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:c7a092b5-e33a-4227-a91e-b726fd72d4f5 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:18669544 uuid:8ee127d1-0760-4705-bd9e-b037c6351f61 phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:dac2ee80-9f5d-44c2-ba4a-4f5c1af2cb5c phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:37a34f0d-4a6c-4270-a24a-91ff468927a4 phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:8912a8e0-f19d-456a-bd78-a7ee596906a7 phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:c17eab24-0a46-4689-a191-76ccf56d7aec phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:6327e585-3f55-49b7-8428-3cae5089c16c phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:96d09d22-e8d6-4f00-91db-8ca7d6b8dbde phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:3a2bb5c5-95be-4be5-8d96-45e6bca6cd8e phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:9968d8e3-87e3-41ef-a82f-dce99c0ef6fe phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:0c55d93b-cdc4-407a-8945-ccc72b17ae88 phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:18669544 uuid:27b24467-b7f5-4a4e-9f9c-efc987ccb3c9 phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:a6cba6da-d6ef-4fcd-bc51-3ea79fee8f32 phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:5b0e21b0-a3c5-4f9d-a75f-ea3d4ff529c1 phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:e93a7c12-8edf-453a-a39f-d50d4b08e33d phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:28d52d15-1507-4741-9822-05e77190e290 phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:80ab091d-6134-4a64-9cd8-fa72149e59bb phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:909c4fb2-fbca-4d1c-bae4-d9359ef1d060 phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:daab7d07-c58d-4b4c-9c0d-8d2fe389191c phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:78676b4d-d343-4037-9eea-467e271165cc phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:18669544 uuid:c3d8056a-4780-451c-853f-a5ade4dde47d phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:580737ba-20c1-417e-ad88-7dcdec3f7415 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:a27f8bf8-ca48-4652-9e83-94bed42a6a8d phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:67df4d5b-018b-4e70-b7c1-872a1b1417c9 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:197e98c5-eeab-4211-a80e-23d40d53f2a0 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:3c5fefce-d8c8-4c78-9f2b-af538f4c00a4 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:2b6ab909-535a-4400-acc9-2d432668604c phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:a6881ed0-b1b3-4e09-a060-42c833a1df15 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:2fb279e5-c486-436b-9398-ddc8a4139ddf phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:74b1a7d7-4055-4642-b94a-953f88f03cca phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:18669544 uuid:649fe1f1-a73e-45dc-a8f7-a1e1d8fe5359 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:bd7c82a7-46f4-4045-b9b5-a60b7397a8c4 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:22940089 uuid:973d43d8-4be1-485c-bc53-c4f64e3a1726 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:22940089 uuid:23d7fc7b-f194-4952-9404-feb2d456133c phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:023656d5-cbd2-4d45-be82-f017d57bdf9c phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:b5824d25-e614-4e0a-b98b-94d2dcd407fa phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0010750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:2e62d43f-8d7d-4894-a881-efd09163af31 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:a66459cc-2f8e-41b0-b346-7c80a601b042 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:ef69528b-fcf4-412f-b72a-859b71b7de85 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:b3f92e42-43af-41e9-913b-912d9f05b78e phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:e6849736-17c0-4dc4-a038-db3eea06f275 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:6a46cafd-ef25-446f-bc8a-8423755ba2dd phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:6c47ae4e-b511-4126-a95e-457adbd27d18 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:197b8c3f-b467-4c11-81f0-37eda81c9b86 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22940089 uuid:724586a1-f2df-434b-9472-6277fa63b5ea phenopacket.store:BBS1.PMID_22940089_PT1 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22940089 uuid:7ea12e1f-ed97-47b4-a667-8fc867be63e6 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22940089 uuid:4ab0bab1-f4f4-422d-9d8a-ba555b64dcab phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:3f40ce8c-143a-4350-b87b-b419d7387ef0 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:00c68615-6082-4915-87f0-31988d3aba87 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:34b4fe31-db5e-4d68-add5-3c6151d3b34b phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:a38f9904-7ef5-4e54-bf4f-2d15bef7bc6a phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:aaebbde4-8e1c-410e-adc6-367f94275a6d phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:ae1ccc6b-16e5-479d-b3af-acc3e13c5a72 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0010750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:0ac26171-21b9-4318-a6eb-6eaddc9c5e2d phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:35a2fcce-5369-4456-be5d-38f5ecdf4ab3 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:99942465-f27f-480d-99f9-ce0c14a674b8 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:55cd12b7-9c52-45b4-9135-fc2f19a7dc32 phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22940089 uuid:f5f3307b-8d02-42a2-8848-e2c58ac89e1b phenopacket.store:BBS1.PMID_22940089_PT3 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22940089 uuid:ecb584d9-eef9-4e40-b10c-b3e0501a5b6e phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:cfe34e97-0f07-4792-a78e-a1b1522e3dff phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:19b94b8a-ba73-43c6-8c3f-a713e8ef5ef4 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:c21e5287-78c3-4f6b-8ecd-363f8705e325 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:2eca1590-ff12-409b-8c22-cc4323ae10d2 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:f3dcfd9d-c454-471f-8895-3dde0e1704ec phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:0903b1bb-9ef1-40d5-a9ae-c0bc96cd7d22 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:f8dbe9e4-5bc1-49fa-b6e5-6584e815e3df phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:b44a2500-af72-4b7b-8262-3221ab52c8e1 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:915ff44d-0eec-4b38-a60d-e1a02a5d15e0 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:18669544 uuid:74dc856f-2502-46fe-a905-6b23ba747509 phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:95bca31b-0ef4-4097-8f4a-05ab571f39fd phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:ad22718b-7a43-44cd-8f0c-0919701b9e10 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:eae8bec8-72cc-4ef1-8922-f534df6130c9 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:42cd11a4-3aaa-435e-9d6f-1cc92f84e017 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:9d6d8744-8c7e-4e9f-9f90-2b34c46b784b phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:3a177719-1f53-44e4-af37-2424206aef2d phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:8b3cf47b-cc4d-499d-a0fb-f472b37960db phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:6c559bf2-5568-451d-a7b6-6d17cbb677ce phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:9d9b64d0-4b46-4e44-aeb6-76e4eee39d54 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:f124caba-21ea-4e6c-91d0-272438a779e6 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:18669544 uuid:8106c839-b760-47e7-beeb-80bf51212821 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:df94d2fe-1783-4f99-b24e-72915a67e93d phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:fdd7e42a-96ac-4751-a8f9-0841e6536379 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:2c4a3752-cdea-4b93-821b-aaeda73c3cb9 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:8c0c0b08-0678-4f25-823a-14059e17e5d8 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:195f1932-7d99-4f47-9bb5-43bf8f36b45d phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:bcb7120c-45a1-49a8-896d-d38890486719 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:88e93111-9cb2-4857-ba8a-5e3cf5922732 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:028e579a-f1f9-431b-be93-2ed25fbba855 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:750f2eb7-bf06-4be1-b9dd-74b91f9b4804 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:18669544 uuid:8cbad4b2-4bb5-426d-a6fa-da2063a4f010 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:2c73f7e1-2a9a-4cd9-8f25-93c7f72cfb42 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:22940089 uuid:e5fe7f50-8619-4a2b-8989-ea8661d6eb86 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:22940089 uuid:ccc629ab-5147-45ad-912f-de0d5ee99457 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:8735ce68-226d-4a38-aa01-dd82fdbdd4dc phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:b852346a-8594-40f8-9290-310c41311dab phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22940089 uuid:030f4bae-d1f0-49c7-9ebd-a4342835d6bb phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:e7a23c4a-316d-4074-a3d5-cfeb0e5c0437 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0010750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:c8b7251d-c325-4384-8dac-c306b38f4795 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:754cecef-7ba3-4e60-aafb-46d8008fd633 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:92baa5af-d72f-4e42-a7ab-e369b89ddd6f phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:b6e5fcaa-0bae-48e0-90b6-5e5a05b0a541 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22940089 uuid:1c785e38-4b94-4c77-8946-2fb7cd851295 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22940089 uuid:51a57dc9-36af-48eb-8de1-5cbeddc4ff3e phenopacket.store:BBS1.PMID_22940089_PT2 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22940089 uuid:f5cd59bb-1197-4305-85ed-00676fdc7d77 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:e17b02db-6539-4e5d-bfa2-e41883b597ec phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:398fb1b3-0b16-473e-bca3-dd26a9a48c82 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:61911203-9c95-433a-a000-b7acc6be0f47 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:4e866b0e-af88-4f6e-8ef7-372e12950249 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:508ab6c1-8269-4314-a2c6-5d1779187ec5 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:c218f7f0-bb9c-4170-948a-95929fbc7d3d phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:5a59a8c9-dc16-4076-8800-228a1786fb74 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:12754d03-9268-4a00-a041-df1efbfd48e5 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:18669544 uuid:bb1495a9-9371-46fd-91d4-7c18c9d78972 phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:a521799e-7404-496b-879d-620822b03aee phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:312e1f2a-b7f7-48f9-8391-272f058b3a99 phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:dd45c922-fd12-44d3-9f7f-119b59232352 phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:022103bc-6393-41f4-8518-de4c3406e2ad phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:a3eece6a-b18f-4484-a4f6-c811a440ceaa phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:41c7103b-051c-4862-a0ed-bafa7ee743a9 phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:6fb5fab3-414e-4ce2-99f3-21503fc9a80d phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:26f06c5b-e228-4484-a300-e36e16f49285 phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:18669544 uuid:8781c6ee-3ef4-4a24-a9a4-13f7cbe801ff phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:0dce3df1-0cbd-47dd-8a5a-0275d06fb301 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:22a0dec5-9ecc-4878-9aa4-f5d0ad30c099 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:ff210793-f28d-494b-86d4-97bb5d98cac2 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:b08c1b3c-f05f-454b-a731-622a3ed4e404 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:192332b7-5e64-43f5-9451-4aa7aa50440d phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18669544 uuid:f9dbba84-f2e6-4d7b-b1a6-17c85c7fd8f5 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:fd880f27-7036-4257-bc77-eb9d0dcac363 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:7423ad9b-1112-44fb-b3a6-b674c8e75f5a phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18669544 uuid:4544f043-8ef0-4b42-84df-a9475cb14c2e phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_disease OMIM:209900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:10529baf-d198-4852-bdfa-92c848e9cea0 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:has_gene HGNC:966 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18669544 uuid:7376bfff-4edb-4634-90d2-50cd5250f407 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:26078953 uuid:b550e071-535a-4c0e-84d3-e7ae93ac64e6 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0032285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26078953 uuid:48d32643-c785-4f8b-b98a-54a1f8b10814 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26078953 uuid:32535f7b-637c-46d1-9a13-2c0cafecc13f phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26078953 uuid:061ae245-662b-474a-bf31-6b6d68ee6788 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:26078953 uuid:3e920e01-bac6-4255-9b50-749201693cbf phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26078953 uuid:959e01dd-e240-481e-8f9d-9910452073b9 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26078953 uuid:495e0ff3-6416-44d1-98b6-1e40e8859ea5 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26078953 uuid:66e26453-7038-4c4e-b0de-fae6cdbb6434 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:ae216304-b27a-4af0-a326-ce896adeb95a phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:197fb2df-70bd-4627-9e8e-11348966a927 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:90ba172f-1736-4968-94b4-65fa4755d821 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:1186f9b7-46cc-4497-8235-80a6e9994ac1 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:f621ba45-1d50-4289-a791-558aa8f99004 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:544da5a0-f7d5-4871-b6be-334bfbeb8654 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:2d119b9e-db2d-4c84-8ae5-39b09c04d30d phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:db55b889-9fff-4bf3-aa37-1a4fda61b4c2 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:7dc7ead2-c7d2-4de8-840d-8d027e9a065b phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:67c004ce-67e3-489b-9323-92e29762bd50 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:ae889d7c-4c23-4596-a004-0e5162734ef9 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26078953 uuid:c28ed3c4-de9e-41e5-b68c-feade38665d3 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_disease OMIM:615981 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26078953 uuid:9f4085cb-0d74-4d2a-b5e5-11eae783bd72 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:has_gene HGNC:967 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26078953 uuid:34e38bf2-8c91-4624-8e6a-ba4ad36bc708 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0010946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:b3c4493c-911c-4299-babe-3f2f25c26783 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:d7807bfe-96e9-4535-80f8-e471a2ce3c0a phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:71963c2a-ddac-4137-8164-874a5ab8058f phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:1d2e13f8-3b36-4d72-b423-95fe11c17a61 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:1b07f623-90aa-43ef-b30b-8f3ecec95de4 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:2380c516-5986-443a-8eee-22fb198f9225 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:81f75b0e-dbd0-48eb-9c15-d7cbb18c3038 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0007994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:ab3fe4f9-42f8-440f-bee7-64de80eb5638 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:8a62763e-f8b0-4eca-8bc9-556aae23dc74 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:35f5d8a0-c27c-499a-8c91-29407a3451f0 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:c7b65691-7cef-42de-8f31-66467da9d23a phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:665c0c6d-9962-4204-8706-8f786caa0b7b phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:c4801f69-f775-408f-872c-067665a8f86d phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:416c52f2-c54e-4354-8042-9f35aaddb467 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:6cdea64a-49bb-4541-9548-0727bdd9fc41 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20618352 uuid:be5266e1-611d-4a2d-8b2d-0828b12a540c phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:20618352 uuid:8e5b8d3e-0fbd-4733-a60a-00969cf58cc9 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0032285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:20618352 uuid:3284c07e-03de-4919-9c71-d1362f19d163 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:1dfa2e5f-c99e-4fd8-a8f9-5c3b04ed25e0 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:7a5950f9-280e-420d-8805-e3169bce5578 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:6fb535b4-86c8-4551-9305-f4973ae2dfa6 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:2ffbc8f3-eab0-4fb5-b048-6ae17b69103f phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0011939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:021d4445-942f-4951-bf06-3323ce4c69eb phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:5847b66e-ac28-48ab-bf6d-61b8032f64fb phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:9d30c332-4c65-4890-a586-65bc5d5f6d5a phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:4272bc60-1447-4649-a906-2b6204d2fefc phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20618352 uuid:9e02c6e5-4431-426a-9815-27d2d4fd4078 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20618352 uuid:c6420c99-90bf-415d-b506-61965e640047 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_disease OMIM:615981 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20618352 uuid:5b8856bd-ce48-4b94-8de6-665cb5d475f5 phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:has_gene HGNC:967 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20618352 uuid:ec8699c5-8ef7-4797-82c4-afa1507ee352 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:2a55394d-ab57-481c-b16c-ea1a34cc7262 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:11a700c3-6ecb-41c4-84ab-66a4595d408b phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:11e83273-484e-4c7f-9542-fd57248ca641 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:647f4921-9587-457a-bfdb-4a2e6251622a phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:3bdc9a9d-3add-486d-b845-12f3dfa4795c phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:8a1648d6-27f2-467b-88a1-bad8b14fe34a phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:fa3a5a3c-0fbc-4008-b274-7ab9e9a12120 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:c4599c63-df95-494a-91aa-65c491327e42 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:9fa3d943-f2d8-4d58-97c5-3a52ed6b8ad5 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:f8302883-1d03-4306-98b3-2a27b5efdc68 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0011939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:bdcd3e26-c2fe-4624-a7f7-6ece3a19b1fe phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:dcc574ac-d4de-4676-8f9c-c4d6dc185bad phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:656b0061-a508-4a33-aaf4-0ba4c39a39a6 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:f343f275-ea11-4d54-9cad-64614f2b9d6e phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:7fb22efc-c20a-4462-9c69-cf8705b87e88 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:eecae1b1-d658-49b6-9ca1-d1c3a692b902 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:831dd448-ab11-4a84-acb7-f0b04b4db341 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:09d89edf-623d-45bc-99b6-832316d88b4c phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:621e2c1f-212a-4774-9eaa-e2acce7c0c02 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:81cf62fa-133d-49e8-b104-816b6556bc38 phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_disease OMIM:615981 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33688495 uuid:a247ef70-17ee-4a16-b20d-bf01e3ae0b4f phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:has_gene HGNC:967 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33688495 uuid:bc0acf62-3eaf-4d47-8205-eb6e2da3cccd phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:f475e6f7-9583-4d8c-8679-6fa2fecb74b1 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:74b7188d-040f-45df-a353-52d0184ea0da phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:04727380-990c-4d2b-8bb6-4c4bbd8117c9 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:b2fe0703-c4e2-4617-83de-015bd12218d0 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:72d6ff68-69ef-4184-b444-42e4260744d2 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:b5b5ab5f-d9b8-4ced-82f2-2465a32f7d1f phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:2b2e6ded-303d-4cf2-aa0c-9375391276e7 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:4d8a7987-03b2-408f-a071-402b69f0e029 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:0e492e1a-6d20-4ae7-ac88-d5259e0aec25 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:96034427-e2fc-4d77-98c0-4af8ce8f7776 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33688495 uuid:ca86bbb6-6c8f-4d1e-99ea-b0942e6f1fd7 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:cf2efe99-ca33-4cff-b4a8-38abd2051f62 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:a0783a97-11a9-49ef-b7e1-ee27608dc0dd phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0011939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:9cb053ac-ea05-4923-9513-849e2ce8055b phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:28e99bc4-2cd1-4913-839b-a4a1e9430d7c phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:0a2dcd89-c410-418d-bb0e-b5c2fc9659bb phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:5e027dcd-5c3f-4c00-a5f4-d6a007425199 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:9c4636db-abf7-4427-8e26-2400e51b432d phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:f1b9a4b3-2c47-4623-afd3-c85b75ab3e96 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:8fe8e743-356d-428c-9f93-570b0765d148 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:eaf236c0-f0d4-4a05-811b-c373ddb40320 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:942c828a-2c21-4e94-a80a-caae1bb7d1b6 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33688495 uuid:a2cbd293-9c4c-4329-afde-561c3b31972d phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_disease OMIM:615981 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33688495 uuid:b9b4c484-a4ae-4824-b539-d5709a238d36 phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:has_gene HGNC:967 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33688495 uuid:2f5914f3-b0a4-490c-8e24-deeebd47063a phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:5a5a0ce3-d285-4042-8ff6-22777fd099c4 phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:15654695 uuid:abf2cc89-9f30-4761-b917-85346e69558d phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:e646d639-95d4-4413-8a2f-bb102a88ab99 phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:2be9662b-ca4b-458b-8fb6-c67a88f07a06 phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0004409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:847de46d-366b-49c2-9dee-c220dd5b1e6d phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15654695 uuid:67438c54-7620-4b79-89b5-33531c40477a phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_phenotype HP:0000458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15654695 uuid:0e99bf62-985d-4154-a336-8a315079d065 phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_disease OMIM:615982 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15654695 uuid:d8655800-0ead-4dea-8875-c48b62ce7391 phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:has_gene HGNC:969 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15654695 uuid:c42d4742-7de2-4de7-aa5a-d106da55a564 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:bb931627-6d4b-4e73-a6ad-0d74263d574e phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:58fdbf31-93ef-4ba5-8933-cfce55ef07f3 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:89895108-d326-4f7e-9b40-d9d3f8a5e0e0 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:06f2e25f-91ef-4b9a-bab8-e24d0cbc1de2 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:fb6840da-4f46-4cfe-be16-13bbebb31ba1 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:89a24487-b21b-49ad-9943-9dc3c675118a phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0000458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15654695 uuid:aabf9f6a-20aa-4b3a-a480-4645a4982642 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_phenotype HP:0004409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15654695 uuid:d73fa7fa-3bb7-4680-9628-4c67b87840ad phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_disease OMIM:615982 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15654695 uuid:8ab8e300-7972-4d89-90bb-a7b2becc8248 phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:has_gene HGNC:969 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15654695 uuid:6dba0dfb-99ba-4eae-a965-999bad660edc phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:a37637e7-04ea-42f5-afe9-c09decb6aafb phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:b47ba99a-2292-42f9-8f61-edad5b9b2bcf phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:a35c3add-b2ae-4d09-847f-0f3b05a6967c phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:24268586-b3de-4f57-9414-7d977b6de4b9 phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:130c0f83-1913-4180-af51-f512b4ca07ef phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:26e45c31-3d04-4744-b889-8454aab5bf65 phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:9efc10fd-0fc3-4fb6-91c2-196c95e192af phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:35866fc4-75d5-4e0b-a1ed-9f69679ac666 phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:1978fadd-e617-4a49-b338-078d907ee1e0 phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:d7497b34-ab46-4579-af59-7e4c6a7de0ec phenopacket.store:BBS4.PMID_25533820_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25533820 uuid:80669516-a147-49d0-a567-b7caf4f39a84 phenopacket.store:BBS4.PMID_25533820_proband biolink:has_disease OMIM:615982 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25533820 uuid:3ad1e143-4961-4b05-8348-ebd467a117a6 phenopacket.store:BBS4.PMID_25533820_proband biolink:has_gene HGNC:969 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25533820 uuid:6c9ad818-ace3-494e-90e9-d5767b749732 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:8d7216ac-2d7b-4eff-8134-13914a06ac4e phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:7dd2ce2b-7ba7-4b01-8e98-56712b152565 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:110d5b3e-0c93-4561-af51-22dd1c3dde84 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:7388aa17-048f-404b-a1b0-b57dc13f3519 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:f49e79e0-17a2-44d6-ac19-f391a0a2214c phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:3a3e5f0d-f8d4-4529-a696-4f2b918e66f1 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0000458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15654695 uuid:5b0382c7-45df-4a2f-8e8d-39be4960f684 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15654695 uuid:59721cfe-fa2f-4d67-8581-1d525175c41e phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_phenotype HP:0004409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15654695 uuid:c0a07727-9fd3-4bbf-86de-32677e15336c phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_disease OMIM:615982 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15654695 uuid:61dcd46b-a373-4184-aa6a-5ef2414ce586 phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:has_gene HGNC:969 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15654695 uuid:30ff6441-21f6-4fee-9d8e-7a075f28f3af phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:30850397 uuid:8f700215-7ec3-47fc-9d06-a3b320d59946 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:30850397 uuid:cc2bb0fe-f6aa-4fa8-85fa-6c0209aa4358 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:9158b8bc-a15b-4978-ad2a-85f336ea7517 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:1f96ddb9-4f3d-40e7-b843-ebf7b86dd14f phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:4076a6df-b3d6-42cb-8a3b-2b75f937fbb9 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:6d007144-2b40-4872-8acc-39572f26bd49 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:52047712-2825-43a7-abc3-b315e880e273 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:bff29e2b-6b5b-40ab-a34e-2c23b2f611ca phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:d79d69a0-95ca-47fa-94e8-2c6c1cd1e436 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:3669596b-76ba-4b56-8bc2-b11f5d0a9698 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30850397 uuid:fd58617d-5632-43de-b20d-9e976714ab58 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30850397 uuid:9d8a6f6e-61e1-47d1-a203-b8d584cc5f94 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30850397 uuid:81fb5bc2-07a9-45fb-a00c-0ef42701328d phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30850397 uuid:32dd38c2-8acc-402a-bd76-ba7417c30b31 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_disease OMIM:615983 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:30850397 uuid:8d1f5665-3d2a-490a-8617-f6aeb18ec6b2 phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:has_gene HGNC:970 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30850397 uuid:20d9e068-49d0-42b4-97de-9ae5a2572e73 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:ac6e00a8-5f18-4ba7-badb-063d26766f71 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:168372e2-af03-4787-94a4-daa84104af09 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:b609d86c-79ee-4522-930a-026e83936d00 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:2a78cbc1-31b0-45cd-99d1-b6e1dc8649e7 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:a560cd84-701c-4aa0-83a2-93e840b72bb5 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:1e1448ad-1946-4b2a-8bdf-956eb9d64573 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_disease OMIM:615983 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32811249 uuid:56164742-7d44-4092-9c99-1ebf3497cba3 phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:has_gene HGNC:970 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32811249 uuid:261deaa6-2abb-4f91-8a0c-8045f324ebfe phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:9a6364f7-ea87-4d79-89df-6c6b3d2661f7 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:e6cac55e-d61f-4d2b-97b8-bbec1263dcc5 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:823be2cd-5b7f-44c4-8ffa-1c945eb8814c phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:3c4c5225-d0ee-409c-9f99-a0beea0182d8 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:af391cb5-5892-4bf3-baff-7210ca8cf888 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:f9feff9f-4f17-420a-98b4-e77adbf94d21 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:8c48d22a-5ba8-41d6-bc29-84846daaec3a phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:c84cab93-4858-423c-81af-d5bea3b41ce8 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30850397 uuid:c655df76-5d2f-4830-ae2b-f591bf0d9d9a phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30850397 uuid:dd17f3a5-33da-4342-99c4-795619e2647b phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30850397 uuid:7af9d0b0-ba53-4494-8857-bd128649d0a2 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_disease OMIM:615983 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30850397 uuid:cc3988b3-8621-4b7d-ab88-37f003d48b77 phenopacket.store:BBS5.PMID_30850397_II_1 biolink:has_gene HGNC:970 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30850397 uuid:01b7e9e9-1f5e-4c76-a069-9dc5adfe34cf phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:2a220351-0e03-43d8-8ad7-39e3b2232efb phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:7fb449e4-e6f7-468a-a471-a147cf27e6e3 phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:c905d548-d38b-4f7d-a61d-92d9b610f884 phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:503d969b-5a3f-4fee-b5df-3f894135310c phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:4b4a5b27-fa51-4e4e-a771-30ad6e47c0c2 phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32811249 uuid:ed964c73-1808-4c65-adab-8f2abb31124f phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_disease OMIM:615983 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32811249 uuid:e8cce469-cd91-4bc5-b7b4-5fa0fc351abb phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:has_gene HGNC:970 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32811249 uuid:bcbaea9a-9587-4a5f-8648-6221c74854dc phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:be517b09-c638-4295-bfe4-d3897eaf3779 phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:f8589096-75b1-4ac9-9219-ca01e242c424 phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:4ced2285-2e5c-4a08-ba35-4567d24f5766 phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_phenotype HP:0010911 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:b903fc53-74b5-49e5-ac34-d582ae6409ab phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_phenotype HP:0010913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:e26e4a48-0921-494c-9280-efac0abdf97f phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_phenotype HP:0010910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:8f95f8ec-13cb-4432-a57d-9cc2cb0a537e phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_disease OMIM:620698 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14742428 uuid:bc4fec1d-c463-43fa-8692-e3ae079d16d9 phenopacket.store:BCKDHB.PMID_14742428_DM biolink:has_gene HGNC:987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14742428 uuid:48b62304-5bfb-44e4-8429-f77e7cd3aeab phenopacket.store:BCKDHB.PMID_2022752_proband_EK biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6D infores:phenopacket-store PMID:2022752 uuid:c05b838d-e520-4dba-9f34-0dbf53b99184 phenopacket.store:BCKDHB.PMID_2022752_proband_EK biolink:has_phenotype HP:0010911 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10D infores:phenopacket-store PMID:2022752 uuid:6c5ddbf1-0319-469c-b48c-5b747a6abe22 phenopacket.store:BCKDHB.PMID_2022752_proband_EK biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26D infores:phenopacket-store PMID:2022752 uuid:e0ad9991-01ea-4c1b-84cb-b9a8525248fa phenopacket.store:BCKDHB.PMID_2022752_proband_EK biolink:has_disease OMIM:620698 biolink:CaseToDiseaseAssociation manual_agent observation P6D infores:phenopacket-store PMID:2022752 uuid:1fbc1bf6-2e12-4304-a08a-672b9eed3d4b phenopacket.store:BCKDHB.PMID_2022752_proband_EK biolink:has_gene HGNC:987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:2022752 uuid:b070a9fd-c0da-48b2-b459-c2da508b6388 phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:182e3c39-78d0-4b35-96e9-ecfa975966f0 phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:f5be6786-0cd0-46d7-9822-6d84ae6983e0 phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:73ced708-a5ff-47ea-8a9d-c3803093d43e phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_phenotype HP:0010911 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:8419fccf-aa2c-470f-8ba4-fb5be60fbb76 phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_phenotype HP:0010913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:f7bbee75-b154-48ec-9f2d-f3a467c6f2a8 phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_phenotype HP:0010910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14742428 uuid:02c04b1f-31b4-4135-8905-d6f04d877323 phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_disease OMIM:620698 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14742428 uuid:6c64c821-63e3-4166-847b-fb69aa0b489c phenopacket.store:BCKDHB.PMID_14742428_WA biolink:has_gene HGNC:987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14742428 uuid:18685576-ee18-426d-8c3b-3ad76a8dcc9a phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:ce3dbbce-f2d3-4407-b650-4dce6c4cad50 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:88a59698-d7db-48d6-b265-716daff91f72 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:327050cf-a2b9-46c9-9522-c0b4bbb655ad phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:baa7b232-e9d6-4440-860a-5fb201ec8db4 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:5463be88-6138-4cc1-a30a-e714179c0762 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:29ddd6cc-cf0d-4945-b93e-a78d01d624b1 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:ed52d3c4-80dd-4230-a7dd-d3234a0bf53d phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0500132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:66ec667d-28c0-4b24-b2e9-7aa62cdcdb59 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0500143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:206997b2-d7ee-4090-8be2-5a8e8c4aa5a0 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0500144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:33fa57eb-a8dd-4b2c-ae2d-ce14328de8a3 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22956686 uuid:cb29d448-e2d8-4a7e-9cb2-9307813ebea5 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_disease OMIM:614923 biolink:CaseToDiseaseAssociation manual_agent observation P1M9D infores:phenopacket-store PMID:22956686 uuid:7dd9c548-bea3-4923-a90d-e8286e1fda26 phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:has_gene HGNC:16902 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:61effa32-4001-44ea-b011-f4d1f4a4957c phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:22956686 uuid:7a7711d8-2ab3-4542-b586-dc4cf14f0068 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:92194226-5c7f-4f03-a4c1-97fabfe15ad1 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:bd7d17c4-916f-4117-bc7d-36e04f2029f3 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:5b275f5e-f7d9-4ab1-8402-bc012688d147 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:d07f84ab-beb4-4a14-b94a-5742dda65bc6 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:cade698c-7e93-4541-8599-ec2343960172 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:5a6e52a0-b076-419b-994d-03fad5f63946 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0500132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:115228f2-1df6-4f3a-b60d-8850f533b5ae phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0500143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:054a165c-5b9a-4955-a952-c9012a1063dd phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0500144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:4f93fc02-437a-4c75-8fcb-458e406dbea3 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22956686 uuid:ecc01394-6165-4573-8225-133c2d7038df phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_disease OMIM:614923 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:93608432-22bd-4452-aae1-f9aca4953065 phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:has_gene HGNC:16902 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:13769b54-979a-4987-b4a9-efe9486c8f04 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:f1621e43-e3a8-47ba-834c-33e1d916b601 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:402729a1-6945-4633-ad31-290354b62119 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:9f754c11-3f54-47de-a86e-674cf802d768 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:0728c896-f006-4f33-9fb7-0f61c4b740b7 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:67b6cf1f-75de-4b12-acf8-ad4c2f06e5a9 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0500132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:9f461f38-4a87-450b-871a-1a40164bc575 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0500143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:304d49c5-b8ce-49a1-9aa8-a1121f4569ec phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0500144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:a13d3211-4e57-49c5-b1db-ffeebdefc0eb phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22956686 uuid:ceaaec08-a3b0-4808-baba-63ba465baca3 phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_disease OMIM:614923 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:07d70c7c-7890-46dc-b4e1-f656e13d0eec phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:has_gene HGNC:16902 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:34eee374-5265-4880-84eb-23eff620b6fe phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:22956686 uuid:79f1e216-bbce-47a0-a328-a115a311349a phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:22956686 uuid:a713ff8d-14c3-4782-9851-72467346ec0b phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:46fc741b-0710-4d24-bf9b-fca9a7e2eab1 phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:fe5b5d51-a8e2-42b1-82f6-d8a6330a4ffd phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:6cedd36b-4360-4b3a-8d70-7b9d746dcbe5 phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:d5f23083-f718-41b5-8b36-61fa75b40eed phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:de036e90-3ad0-4602-9e5e-34d9249c5e7b phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0500132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:8ced8ada-d325-4107-b219-70d6b3a128af phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0500143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:50db68e3-cd46-451f-a17c-cde8f38934bb phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0500144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:5eeafde8-b13b-41f3-b540-4fb9e6776ead phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22956686 uuid:6016115e-54b2-4ce4-911b-6a0bf2eeb91e phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_disease OMIM:614923 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:9e079c20-45e9-40f5-9ca2-549b10a34646 phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:has_gene HGNC:16902 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:ae96a37e-5c06-4034-9c49-68516ec51557 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:22956686 uuid:4dd891ec-810b-4012-a2ca-05734372b26e phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:22956686 uuid:c6d6d889-f0da-4a02-b75a-3f9564f125c8 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:cbc457f4-ef1b-4da1-93aa-802ab9f4eeed phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:34278519-1df6-4f9d-83d6-085f9e42c391 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:a8ee62b6-0a33-49d0-aaca-b008de36e713 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:bb843c76-f6c7-4dd3-9e35-91e6385dde3a phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:73c4e008-d3a3-408c-aecc-befe585308a9 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:e16af18b-6c11-4499-a176-7f027f72da87 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:d4e4b298-64a1-496c-85b1-7f40cddb5087 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:a59b5a17-df2e-4428-a8d9-36a91ae1b863 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0500132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:bf0b6950-0eb8-46bf-a7f1-91548627f3c5 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0500143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:a019fca5-268d-4f35-83ab-8fc743ab0967 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_phenotype HP:0500144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:17af2284-de96-480c-9da4-4a2c7e1337ca phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_disease OMIM:614923 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:22956686 uuid:aaf9b454-0ddd-4fb2-8a95-2334837be484 phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:has_gene HGNC:16902 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:a2247516-90ed-403d-9d43-51cc0467424c phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:91000890-245a-4daf-9cec-168299ca5803 phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:2b90f012-28d8-447b-9379-86bb66256feb phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:a10d909a-d441-4c25-9bb6-aa3e0b43bd97 phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:771a309a-1058-4a45-ab2d-c9ea6622af52 phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:c33ce6d7-0b9d-4712-8823-d42ed7bce3ca phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0500132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:f3041283-19b6-4119-93f2-ff0ecf6db113 phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0500143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:2a46e0df-1de0-4c66-8129-18cf24c35e3d phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_phenotype HP:0500144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22956686 uuid:c49ae591-0cc2-4875-a36e-3e30743fc5fc phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_disease OMIM:614923 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:89a8a587-b79e-4194-a8f5-19c395f071ba phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:has_gene HGNC:16902 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22956686 uuid:44340426-3b75-43e5-98bc-3f5f47cf59fb phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:a57733ae-0737-47a2-bf1a-353494cf2376 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:5b248304-10d4-4d50-a4c0-5565f62b9856 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:39c89281-c967-49a3-98af-4712ab3e969c phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:4721696b-54db-469d-8882-fa612141791f phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:b31a408a-9cb0-4b97-bff1-32ec27933550 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:50a073dd-039b-45f9-aa9a-1b09085c0d18 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:5ebbeb8b-b145-4403-a299-5e429dda613c phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:c1c12f73-a25f-4938-ac5f-cc98d025a538 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:677872d7-bb51-4e7a-96a3-6298f9b2459b phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:7f8b5b17-875f-424b-bcc8-db030d622b70 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:4e42f097-6676-4c8d-a9ac-64b5390e7f08 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:838935a6-7288-4807-9ab1-752461d44ef3 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:b58ead28-ee21-4acd-ad23-4dda0b6d883e phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:801c2d09-feac-404b-b2e0-beb5ff797bdd phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:91818b4e-9875-4699-83e7-4d3f725b9835 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:34c3e99e-e89e-493c-aba3-82c146ebd34a phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:659edba3-e3f0-416e-907f-3ffa33cdf8b5 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:7f8a26c9-a3ca-407a-a7f5-1376818bc1b0 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24800029 uuid:b4485a3a-e9b5-493d-a20b-5141ef070d69 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_disease OMIM:115150 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24800029 uuid:646a5e35-79d3-473d-902e-82f2e8a72357 phenopacket.store:BRAF.PMID_24800029_boy biolink:has_gene HGNC:1097 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24800029 uuid:3dccd136-7002-48af-bf0d-fd7d9960ecce phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:4cf1a621-c6f8-4265-bd2d-420feed1c816 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:c4a4abfc-9c48-4a8d-9163-ffd4b348172d phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:e8c199c9-e3d7-4630-a0d4-5a5a815f5014 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:1ec2f715-2620-47cf-bd79-1e80b4509d49 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:66fa7832-35df-4f97-afa2-8ac670802956 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:78f903ea-a5ae-47b4-927d-877199e84512 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:ad968446-cb42-4a40-89e2-fefc9c1498ea phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:cce5c851-ee6a-48ec-b774-8cb942cf5bf7 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:3f1a3433-a0bc-4c32-bcbc-debceb0fa698 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:1c5755c4-636b-4c6e-a0cc-f3743c7b5d0f phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:d2e8b44e-733d-46aa-a7d0-a8318a6e65f7 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:e5e2aae4-9510-41ae-9237-5042ac533077 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:f640bd52-cfe2-4d69-bb0f-c7974d330ee2 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:57143afd-ff8e-491b-8d09-39253d714c64 phenopacket.store:BRD4.PMID_35470444_P4 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:3f5ad2b2-9955-45d6-9f31-c97f1818df14 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:07507d5a-ae94-4cf9-b0c9-324bc1d82e92 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:6f7e042f-1d8c-4101-8062-d345fa8fe4d4 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:7992f2e8-8202-42a4-954d-f2802c9e998b phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:c73d1933-0793-4442-9df0-c83c60e2f990 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:55596641-10ce-49af-b4f4-efcba29df73a phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:77d97232-ea6b-48f7-bc24-4f53686b2006 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:bf477792-0a90-464f-b9c9-ea780f401a72 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:ca301486-d77c-4063-8a5b-7902b470cd16 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:7a9a6376-86de-4394-a10a-d7c28bf133e5 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:075326f3-db53-4d74-8ac4-fe4d9d4c25bc phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:c952b122-b5c6-442d-9b93-02eacb3459e6 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:07f2774c-a6c5-4506-a7b4-483ff29b7c97 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:e6b8816e-bbbf-45ae-902f-b9e14e9ca11b phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:fc9ddec3-5573-4211-801d-d4f907c0dadc phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:35705b8f-9917-4cf8-ae42-aa089a4627df phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:0859d908-269d-4606-beba-612b890d4703 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:da71d385-d32a-487f-bd39-5f68c744c4b5 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:6a694a49-7fe9-4564-98a5-b75868ac23e4 phenopacket.store:BRD4.PMID_35470444_P7 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:911a3e8d-6776-47a5-ad76-f0139ceb2da1 phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:dc60491f-85b6-4d85-961f-2c3c31994985 phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:3dfe7e8c-735e-4936-ab16-b5391453f0b7 phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:2f8a2c9a-9d74-402f-89ba-faf152029803 phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:e1825be0-f915-487d-af55-4b6c4971ce5f phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:c8beed8e-5fd9-4524-bfff-38ecd84bafa3 phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:417e186c-738f-4f9e-87db-0c9e0ea434e8 phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:472fde84-1d71-47cc-b21e-18da24f006ce phenopacket.store:BRD4.PMID_35470444_P12 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:f590cc9e-e8c8-437a-9423-a56d123057b7 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:caef0a1b-cf16-407a-ac7d-8554800c5761 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:ff156d36-4670-4379-ad94-7f3ad1d6d8c8 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:8365ea25-f360-4ca9-b72c-8b77c997419c phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:8bc15bd3-5cb4-4c6f-aa98-58b1c9802f9d phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:73fc3b21-fc60-4e11-957b-757c35d6ddfe phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:571734ba-ce4a-4bab-a94d-b77de15dd510 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:8cfdceb7-5f1d-4e91-bd7d-db23d235a671 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:6fdd0db0-e8fa-42d6-a02e-4d6e70bb6ddf phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:d423e729-78b1-473a-aa61-797716124465 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:1f698361-cd29-4dca-9d54-1c625a96c8e7 phenopacket.store:BRD4.PMID_35470444_P14 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:81d457f4-4de7-46ce-acae-1e7d18ae743b phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:444ff021-9e24-4f1d-85ab-8612e350ba4c phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:4379b267-4bb2-4f0e-a50f-c5bcc0782c03 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:5b517552-6391-49ee-88c8-e2f9a9a13aea phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:228e9f96-97db-4557-916d-897a8d0ffe88 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:be911d9f-799f-4832-8d29-b8fbd90dca89 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:03cdb835-0e40-4df0-b481-d69df691051c phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:d93fc933-24b0-4d18-bafb-5f97711e6052 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:3703b76d-cb18-4774-bc36-988874952a67 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a8b63ba0-6f20-4407-a7a5-bb47e75b218c phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:7bd10fdf-9198-4f82-b54f-03a5d641b7f3 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:9a0ea19f-f34b-4b7d-8ea6-81d6972a8030 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:403210f7-5f6a-422b-8a88-f88e28568762 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:9d9700e6-2143-4b37-8298-03799cb59284 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:1200670c-9dca-4c38-9690-0d647a554ef1 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:3776e05a-66da-4cd3-be47-376b3d0660d3 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:692af2e7-b46d-4f66-83c2-1a0798d82938 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:8e1dedf1-48d1-4d01-8ad8-d18bb15712c0 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:6814dc22-ffb5-4896-83f3-127faab3ca46 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:c6a6e4d0-2268-47df-8ddd-975eb2c1c916 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:831de543-8201-4168-a011-7f2a1a069bf0 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:c0b9b88f-fc6b-471e-91ea-31c1b69a87bd phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:1405ced1-e67b-4cd2-aba8-f9274dc55ccb phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:569b9617-0024-441a-bfc9-b9988a70a864 phenopacket.store:BRD4.PMID_35470444_P9 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:85eff22f-e5c2-45a0-8843-42a750cafc28 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:61247a32-3cec-485b-bde0-8badafdec061 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:d2af26a6-9bcf-4da7-a30b-4e8f55192c73 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:5b975f8b-32a6-4979-8f75-03df2c769174 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:513a5726-bb94-4546-a9a4-cfd359a7205e phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:27f344d5-6b4e-467b-8816-a2f6b545463f phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:6c2820f1-d116-475d-9a6d-c3acca277b03 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:2558dc24-cd80-4c74-ad7c-923ab054a770 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:77fcdaf5-1afe-4eb0-8f2d-24db495fa673 phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:ab47f90b-50b7-4685-aeb8-8632c047e1bc phenopacket.store:BRD4.PMID_35470444_P2 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:3ed7710e-1529-49bc-aa49-c4ca28c87698 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:9253a12c-8565-4bb0-934f-dcc8003c3a21 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:b53a9a6d-f710-4119-8915-2a79e8f471c5 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:0afbbdb3-303f-4b84-b609-c3f1d7172084 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a98463b4-272b-4ffd-99e7-844d2e644a21 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:294a2b99-2f67-4915-92bd-2551965ac1f1 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:d1759670-d66a-482d-afe2-81914c392575 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:8f86467e-e919-43f0-a37f-0c44fd680aa8 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:3fa62f65-3ca2-4536-90c2-174b4d143119 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:7c3c0e8e-3e7d-4788-a8aa-9a607f718363 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:6cc5977a-bc2e-48a5-9f40-c11a7af0a347 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:14644a21-9639-4a29-9dee-d0b86cf26810 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:a4d8a9b9-326c-47d4-aee9-14b0fb47a216 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:79ef77ca-54a6-44b2-9868-6cb2971d6ebb phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:3be9d565-27f2-4514-9cc7-5cd78e5a2d6a phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:fe211802-26be-4cd5-94bd-f58c7358acdc phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:81d93c37-fcb8-40e7-8d99-6c90c54f217f phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:e138534c-c75c-40dd-be9a-3a3fdd5f9b1e phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:32b399d2-72e7-493c-9719-c43a8c26b6e8 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:410ec577-90c6-4ed3-b47b-aed9bca60a18 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:6c76cfa7-270e-43f9-aada-8aba77be0cb8 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:7ac018f0-ca5c-46c6-b1e0-9ed2e973046b phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:8af6f75c-5475-4243-9c24-eac23ddd3444 phenopacket.store:BRD4.PMID_35470444_P11 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:c6594339-ec7c-4c84-acaf-42f00e969e2a phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:52191eb5-771a-4922-a618-6a1a6cd96380 phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:bb523e0e-3240-43fe-bd2e-1cc0b8d9aed7 phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:842d0bad-0dd2-4f3e-96df-fdbe5c91c4ec phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:bd8e1877-34e4-417a-b62c-2427e995a0ec phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:0c9dc7a7-929b-40e6-a284-2319445fb332 phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:e60cea2f-480f-491d-b62c-39bf27bd9a97 phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:47292255-c089-4a3b-8bb3-dfeacaf8365e phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:30f85562-5dfb-4e5d-ba85-3d0388f8ae51 phenopacket.store:BRD4.PMID_35470444_P10 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:2fa4095e-1e80-466f-8c9c-bf7ae92be7d6 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:af612836-f98f-4708-b543-a1fab2d0bbaf phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:d15b6f9b-3054-4d26-983d-5f18dda8d0a7 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:6046e59b-d06b-492e-8949-363cd7515d86 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:7a6a2990-e3cd-4d4a-b6db-78924f449374 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:aef50cac-3909-4171-a7a9-275f57b7cd11 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:ca1cd562-d34b-49ee-b43b-7c2ad33e238f phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:830d0754-e385-44b9-89f1-5d9de3f8c044 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:c508d98e-f574-4211-b29c-42b5f37bf4d8 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:ccf95f75-1d78-45d7-a756-252c28db3b47 phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:4a55dd3e-6914-4fd3-ab71-18adfcdf62ed phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:52c69e48-54b0-423b-b4f9-eeee30f9420b phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:ec8eb056-46ae-44c5-953d-69ca51d309a8 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:12d1aa1e-e5d1-451a-8381-24fcededfd1e phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a7f6c99a-8131-4829-ae35-96b5d239a1dd phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:09514f4a-a7cc-4495-a7e3-127d8c16c268 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:2ff3fb61-99ef-4228-a375-04057d7863de phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:fcb77402-2456-4bfb-98cc-bb09b4bcc1eb phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:4ac3e6f3-0de0-44e6-9db4-9f2847a644c2 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:7dc23119-db3f-4147-8a2e-1641813f87f4 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:8b7bf65d-f1c2-46e0-986d-5cd477906219 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:4892b54b-3f5e-4c20-8080-db5488034976 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:ca021aa0-abb3-47cd-9871-88120b6de514 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:eabc4844-7c11-468d-90af-975cac97b759 phenopacket.store:BRD4.PMID_35470444_P6 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:85f3b469-4bb5-481f-9dc0-19eb129c8f99 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:1d10de57-64e6-472f-86d6-dcd02edc4a59 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:9cc56dac-89f6-478b-9589-72ab2033e63f phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:549526d9-e186-44bf-a88c-203167706f7c phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:d98ab7fb-0200-44b4-ad66-a076caee6071 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:ad503a97-aeab-4d4c-ae11-00888c03fdae phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:de04394b-85d5-438f-89b6-bd86910a5644 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:73f1005b-28a8-4f04-a948-833a56ba6eb8 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:fb93965a-55a6-4318-ba23-90e9e3abbade phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a344081a-5aa9-4f94-948c-49de60f97a62 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0200021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a275af43-2f47-4b75-98f9-576f375ecfc0 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0012167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:d3921bcd-faf3-45d3-b26a-6107c2220757 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0004935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:13b4b5d2-ca8b-48ca-9787-618f1e8d49ad phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:76e22467-8c82-4319-9297-e6e11cced5aa phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:46ba7fec-d822-4b5a-9b9a-2d268fd382d6 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:2688a60e-e6fa-4bfa-9711-4e2cad1055bd phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:a56c4155-dba8-4a47-9b1e-87ad5c419cbc phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:820750bf-1833-4506-b024-93598e108796 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:95dfc494-a8e1-4b60-aa30-e900274c7f1b phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:289919ab-241c-4c8b-b25c-1b89726cc149 phenopacket.store:BRD4.PMID_35470444_P5 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:2e27d0ee-1cf5-4a2f-80ee-14d655776f49 phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:090a8c07-8825-4893-847d-6b6e0a9e6366 phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:53c89b49-d334-40b7-a6da-d481fce17131 phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:ea9bf4c0-3c53-43fd-acdc-d39bbf77b05b phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:2bbe8801-07b0-41c3-b3be-16059fa997f0 phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:661a103a-b24a-400d-b05d-c6e4252077db phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:617535b5-b889-4d61-86ab-8413d5845230 phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:bd547bbe-eb7e-4d97-b081-078da4f6c80a phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:397b17fe-71be-41d2-8093-36a3d8dc5f1f phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:1c3edebf-b8cb-4857-8539-cf58c52cccbc phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:73f01405-e82e-493d-992b-55700f094b8c phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:73125291-b347-4f5d-b6bb-364424049042 phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:6e7856d4-5970-454c-8951-df35eacaf14c phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:c8f60ef6-2c56-4dc0-8a6a-4dfbd8eb96de phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:c50df2a3-2216-4803-88b3-808b8e7f9d98 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:02340218-6501-40a0-a132-9bd2d955b545 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:ba38cdbe-ccdd-4bd2-a373-c1ca316ede89 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:7fb6fc47-9727-45d0-8583-1e419bcbd8b0 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:7928f868-186e-4716-9dd2-3cac9d8aebf7 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:e9b4f886-3695-45a5-b58a-d9e8d885d80b phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:5538532f-d70a-4e7b-897c-b9b600196c2c phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:d4f655b4-be65-4edf-b842-250f122cfab4 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:46482203-fab0-4d56-9c4e-8d242ff4d0c6 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:fb8d19bb-8f6d-4250-b75e-0a3be9ad5317 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:63c05201-bf75-4165-a892-807a514c2239 phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:1ac5c137-7281-4148-b300-89a31f492b8f phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:a0e92bb0-09ad-4cc6-9681-c4ebb3e7effd phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:43aa6094-6d5d-4eaa-b52d-ea1be941a38d phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:86f15a9a-75ca-493c-a5dd-01a7c8d27157 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:8775e05b-f3ff-494e-8900-742a681317b9 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:9bb3d7ea-f786-456c-9b07-3863906f9d01 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:0f068d7c-9d37-41f7-be38-31505a025f0e phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:e1e504cc-c1ce-40d6-9a65-6eed4d9a568a phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a4ce0ad9-87de-4e2f-88f1-80cd94062724 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:dcd1306c-a44d-4c8c-99f7-7d76bd109597 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:4b42e616-d70b-488d-9ed0-f6e4f386bc2e phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:be8bb9f7-183d-47a5-a0ac-07bb206dfbd8 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:2b428023-89f8-48bd-be4b-0a222bd63ca9 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:f4a1c2c0-1cc0-4c3b-b132-b8d1f18f5b1b phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:8a6290d6-87c5-49a3-a402-9198f85f2cea phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:e58b9fbb-6db0-4585-9a42-f13e5de4048e phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:2ef67925-1bc1-4b13-955a-2f69d45498e0 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:b702d752-c077-401e-8555-e66d3bcaeb2b phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:7b0196f5-36d8-4abc-88c4-5a3eb12f9517 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:27884e99-a6e7-4f62-a645-d5dad1dcb0bf phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:53a9564e-4d12-4f26-814e-eb7bc73afe2f phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:cd690021-d600-4b56-bc63-ba58dd29cd8f phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:ba52484e-1d0c-4e32-a4d7-3093b761718a phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:818b6d1e-1324-4190-8477-78c93b255568 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:62e58c7c-1f1a-4c31-b6ff-13ee1a3c4a79 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:286c1625-ff36-4382-b466-035d924c1584 phenopacket.store:BRD4.PMID_35470444_P8 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:831bee87-d660-4254-a4b2-b9babd41f705 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:837f6ccb-804d-4727-b39d-4e348cd4653b phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:3f26c51b-1ee6-4a69-b67b-db6558adff94 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:cfdff2ec-4216-4eff-b5a9-a6b7d3dc4703 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:ff6ce589-bc5b-4870-9fdf-7e18e28ecc61 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:5faba3d3-8525-43de-be13-ef84cd1460a5 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:40f38cce-ff7d-4e50-8678-4c9a2166b8a1 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:4dcaa50a-05db-4981-b041-77cff0b8c527 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a1718573-42eb-44e2-8ccf-df2c13b12302 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:9680d5e6-57c8-46ff-8e51-0aa1725b1dac phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:40afdf03-0542-407a-89ee-3f5e68c5a2c7 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:a04c208c-0a6a-4795-b9a6-1878942a6d68 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:2af32106-4c70-4bf6-af2e-924584395473 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:395e2981-3116-469b-8b21-c283372cf415 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:76a84cc8-0115-463d-8cfd-bfdc60453016 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:75e4e738-af97-4e05-8846-351cd0e7f78e phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:5ab76d1b-3c70-4cc8-a12a-3bc0ba3da2b3 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:5eace511-65f7-4507-8902-d9b09efa1058 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:d315acd3-28fa-4bcd-989e-557cb05575d5 phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:9e494011-758b-4f3f-9a9f-6ba8c22577ad phenopacket.store:BRD4.PMID_35470444_P1 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:8c37be04-7ebe-42db-b989-c837e03b4076 phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:696f5fe7-44a5-429b-a16f-dd5248af01fb phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:ccdce6e5-fbac-455e-be17-7aa41ad99b53 phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:53deba93-5113-4ed2-a6b8-1659fc6abd97 phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:79333aa3-79d7-41a6-89e5-ed50dcd31712 phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:ae141943-bbc6-46da-85a8-9970cd964f7a phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:b2a73e49-c72b-4b74-b76f-c1da6032d947 phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:b6938b8d-aea5-4821-80be-c75704accc93 phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:038c8536-f7de-4fe7-9f83-69496c18773f phenopacket.store:BRD4.PMID_35470444_P3 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:6195e3a6-5a05-4fb1-b08f-dafc07d6e547 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:c97d18e6-5626-44fa-a1af-36f77d4f4622 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:ca34b3c6-a9c1-44b6-974e-3fab194e827a phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:f989eec4-2949-4045-84a4-531585a94d84 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:524935de-7c2b-46fb-b140-dc906c3ab40a phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:858da28a-bb5c-4382-a8e2-9224d3665397 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:938686bd-8c2f-495e-9e09-692240a57e2e phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:964f9ef9-076f-4928-9a3d-688cdf61d910 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:9b3e44dd-ef7c-4695-bd41-b94819f4c107 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:c07cc26e-ef21-4a83-8ccc-dc31e7a90166 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:70ee6710-31ec-4452-8670-64a701873641 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379197 uuid:a9f1bef1-3a35-4b63-b0b7-53f369fe870c phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379197 uuid:1d621031-d931-42b0-a8b1-2aa398e5142b phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:f68bee3b-10db-4ccd-804c-31e41a575802 phenopacket.store:BRD4.PMID_29379197_3049 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379197 uuid:c45fd128-14d7-49ae-a2d7-0e38f28470e3 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:61119c3d-20d1-44d3-9977-49ad502771fa phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:47e245b5-fcb6-439d-a338-1e7f20bf5b24 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:6e81cf41-9447-4e8b-9553-30e78f885b63 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35470444 uuid:1fa99809-6b2c-441a-ad00-c33f328ffcd7 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:a0e08c1b-3fd9-46d9-80e8-24c25fd0f805 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:06b0f59b-ed8b-4b09-8d91-406dbf4f798c phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:8306519a-3170-4c6e-aefd-304fb9252f26 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35470444 uuid:d9697d66-188d-4f46-8229-e7cee5003e21 phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_disease OMIM:620568 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:748b5f7c-f3ad-4989-a7b3-7f9b1484879e phenopacket.store:BRD4.PMID_35470444_P13 biolink:has_gene HGNC:13575 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35470444 uuid:35788a1f-b8c3-42ab-bbb6-c3f6f86adf96 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:4cf6fdcd-c14a-4167-8486-2801ade7569d phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:60328f9d-c0a6-40c9-b1ec-49020405d5c2 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:63a24afd-3044-406f-8858-927732f4fb8d phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:5be0e589-c42f-4221-88e0-a43e19fd189e phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:257d7d59-590b-4410-b085-28c767aa97af phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:bcc13cd7-b96c-44b1-9d0e-8a2b2fe0d56c phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a40476e9-a25b-4f23-9b23-72f369558b77 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:c5ec32fa-2289-4894-94fb-39b38379641f phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e1f9c974-ad9f-4161-8841-fcb8afa4fb1c phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:be2b0497-7653-4ba8-8e24-97a3b09f5f5d phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:f22e79f3-fe97-425e-aac0-518a329ce28b phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:74d0a5ef-5589-436d-8870-4c42271169a9 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:92592799-1bd8-4eb5-9bcf-bdc76534f849 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:21a7ed5b-af43-44d0-9665-b5414f24ab32 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:047537b4-65d9-4dba-b01f-7c4278d3749c phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:08736c1e-7f4b-485d-aa7f-8b88649f8c50 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:63088571-3661-4b9a-8191-d8933e949683 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:ec0b0755-fb95-48d4-a7bf-48c63298186e phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:e5b3ebb7-08bb-4f4b-ad0f-1402af353280 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:40b3d457-8cdc-49d4-bcb8-4d6f9536c509 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:ac71cd41-49cf-4980-b592-84f28588c5bd phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:2bf6c0c2-b9df-4c7b-84bb-023cca931a5f phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:209f9b83-480b-46cf-9fe5-ad041e6998ae phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:9968f4cf-2f87-483d-b151-3ecc3e214452 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:4a434f96-349f-4d1e-9556-f38fa9d54e85 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5e63ca59-4596-40e1-b60e-2998841b6588 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:c01a0cb5-fdff-465f-8856-606612e45965 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:0ecfc729-b026-4ada-aa09-ce993f1c9b5c phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:1ee1aecb-437e-48fc-a879-0b51b0cefc95 phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:3bc55565-d5ed-4af3-af84-ecd745f7dd2e phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:ec27d903-df9d-41fb-b542-c7f73688579a phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:0fc7321f-55c2-45ed-b615-a5564f7afde4 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a88490e7-6ded-4d7c-80b1-d784805289aa phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e1887ba6-53c1-46c5-84fb-fcdb46c9276f phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2c9f61b0-9b8d-44cd-bfff-06f03ecade19 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:cf9a1174-15b3-4901-bf3a-499fd559ba26 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b533b77b-fe10-4594-a7cf-8a6ddc244bc3 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:697d0ac4-607b-462b-86bc-4ac32c0d8210 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:ff8daa31-4410-4ea6-829b-b55197f1769f phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:922d21b9-f29d-41ea-8c7b-7527ab6c3a63 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:274ae7a0-1fd9-4f99-b80a-a1c02e7d9c01 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:3f5da6bc-3f27-49ea-892b-3cf9bace0439 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d5f4d947-2ffb-4df2-b6eb-a06a8f8a9289 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b2b2ad24-8fc4-49dc-baa3-04a1b2b6f3eb phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:1b3946da-4a9d-4fc3-a503-49e1819aea2a phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:455250f3-f2e0-458b-9662-e2a98c43ceb1 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:1bbb0497-12c2-478c-b608-dc42831aae33 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:58ca24a2-30ae-4cc9-8e99-6c596cb49012 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:df2732fd-b7b5-4d98-a32b-d169b26b08d4 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:49e3ad32-cc9b-4ebc-8bd0-81ed74e540ea phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:8632f75a-fa61-42e1-8b3f-ff5c36fd8db7 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:a0c6557f-73fd-457c-b8f1-efef806c55fd phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:305ecb7b-3276-41f4-95ff-6ca4e31e4d60 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:2e8b7c7d-7b8d-4a65-86ff-99fd35c6ebcb phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:6da8a18c-2595-4496-8fba-bf6d070b7b0b phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:2dd0c5e9-3b30-4650-a792-412a575af025 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:9fa54e1a-926c-46d8-a152-bc0e8b5634ae phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:8b40fcae-8f13-438f-85c3-194d6e4b1807 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5f3c9509-96c1-491c-9453-7ea7f33ad021 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b67f99c6-07bc-418a-bca1-029f83bb2e02 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:76043aa4-08b2-4b13-b631-721bbe3c5896 phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:d938fc32-8a90-4a28-a55e-0eb442a7470c phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:8dbbf1c5-0ad7-43cf-a9d8-5709b4763368 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:0852e827-3c9d-4ed9-8e67-4401457b5dba phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:5fe6530a-032f-4894-9238-4cb713744ab0 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:6080477e-e5a0-4425-91ef-6368ba599991 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:28345661-c38c-44d5-ae54-84d279304fcb phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:999b2c05-ba91-4b5b-8f3b-ebf2ad780d68 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:346d71b4-bfc6-49ba-8df2-446e57fda98b phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:5bc799fe-6369-429b-9d28-7ec58193d424 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:f0d47b46-afd7-4285-8ca7-9786c0c42b0b phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:ff13131f-dc00-4e50-98ea-7338a6cf8de1 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:254e5fa8-20ea-43e9-819f-2b95c762ac86 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:3bc2dcd7-5ba7-45d2-8e3e-1a8d2281a7f1 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:1971818d-fc9d-4a15-89c1-c6142563086a phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:bbd677dd-365f-48b0-a32d-04b46b72369b phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:186d2b08-4c2b-4fb5-a04f-dbf45e88b80f phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:bdbef8bb-a387-477b-b100-6538fd503a7d phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:de4e495d-b0e4-4c33-a90c-acf3c1cb65b3 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:0f1ac2fb-3f59-4220-893c-09078ad156cf phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7e5f1af9-f297-4366-9a94-5968cfb7a6f1 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b109d57c-7aaf-4fd0-8041-88999e9485b5 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:446c819e-5e56-44f2-a13b-c6dcb06c4f40 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:da6d5950-1295-4c09-af71-51f98165c948 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:be9a08a1-087f-4893-8503-b1700621a25d phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5399fc62-d3cc-429b-8716-48585409e7d9 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:25074191-a288-44c1-8c6e-7db49e367985 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:d466ec34-4d32-4c29-920f-3c7782529784 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:ce1a42dd-31a6-44b1-adbc-5140281fc086 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:42ac2780-ea6e-479a-a3fc-3698663dd61a phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:f6e16472-cf63-4a29-87f8-6b59cc019c07 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b34ddced-63fe-487f-bffa-b0cc89662bd6 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:07b297fb-3a16-4d25-862c-58cb7f0ce071 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b470831c-7b1c-45ee-b393-71403577f3a6 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:4b07025c-478c-471a-8460-bdbe4a5a7068 phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:d72b01f0-8059-4594-9560-54ed0c0e1519 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:bb5a8940-aba8-4c9f-b71d-28487a33c5b5 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:40719a02-3dc9-4295-be53-fbd94221d78c phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:8db18a41-7ed6-49cf-80d2-0a90a57c9e47 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a05258db-c360-4706-93d6-bb9601a318ce phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b9653021-6032-4045-bdda-8dd6ef19201d phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:1ab4862c-0cf9-40a6-93a1-82009b8392d4 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:413dbcce-1bad-4b26-9b01-3a089f6927e1 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:21ae16ea-77bf-43ba-94d5-7c565431595d phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:c13c672b-0724-46ca-96a4-cf007cf950e4 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e0a15c60-7c9b-4007-9d59-d9af37e2a4e6 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:ed354b51-c191-468c-96e4-593f1aa9451e phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2d291c38-d33f-4609-b2d5-f6d6075edb6e phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b33c49c6-3cdb-4331-8e33-2ac0355909e1 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:232800ea-5678-44a3-8cc4-c1a679c1d1fe phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:71bb9284-7b82-4ec0-8cc9-71382846177f phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:764f6498-4604-4454-8fed-c72b67aa2f34 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5b007507-8943-4e94-91ce-e572093b0433 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b74c31ff-7c7f-4e00-b2b2-cf2061fdfe33 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:855b5d87-97da-4804-a946-2b312dc95a53 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7f3befc5-7d8f-4071-9524-55626adccc0c phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b7ed1f2b-b93b-4b96-854c-21f11ef008bc phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:cba94572-6c3d-4395-a9c4-0506869b85c0 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:674cc096-96fc-482b-a6af-98bce097b934 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7e4834db-c670-4543-823d-bbb91044d6d0 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:7a2a89f8-dbe6-456d-bf7e-3f50a8cdbbb1 phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:31f08e67-4264-47d7-b08c-4a06388c2dca phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:224297eb-d70f-4830-bfad-a02a4e08b871 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b0e99810-c250-4e8f-8edf-c3ccfac8f4fc phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:1a84bb6c-9388-4211-b835-e998e7a5cb0b phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:ca937851-dec0-4ca6-ae8f-89d7886b62f3 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:fd98472d-344a-481b-8aae-e1f0d6a0f7e5 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:124ae27e-a0e7-47f7-86f8-f40ffa495ff8 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:dcdf7518-e74e-4c22-a884-593984853dd3 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2903f9f1-2412-43d5-8dd0-7e805e61a1eb phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:5c9cdcc8-7bb3-4d76-8272-74030ccbfd49 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a5fb6e0b-bb68-4c65-bd0f-8b78b0b6a87a phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:92117dee-bb31-46bb-8db8-47b5c28c7439 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a501340e-dc9d-4686-b7b6-cfbbd06d7802 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e7b578ac-5167-4871-9009-d34263f64cb8 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2002cb85-adb9-4cb9-9aa6-4e3b50abb0be phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:cc818dcd-569d-4126-99d3-aa2aa31fb3d3 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:6a4904bd-5083-4c87-ac43-8cd05218458e phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:e1dd52fd-7755-41fe-a9b4-03e9908ff3f0 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7b028f32-76ec-449c-a66b-cc56ba008375 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:3e363ea5-ef4f-4e53-9e80-c6bce0c29111 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:54c3f23b-85a7-4804-81f4-449c917c470c phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:feea8f54-bf79-4765-b137-c67401fd7cd2 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:0d898e75-9907-4dd4-bbb7-fe6cf82a0bdc phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5060d079-2937-4a11-a053-57069405d3cf phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:a34312d6-4ec1-4b22-bd85-9f15e01d4c39 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5b7b05cb-b9ef-43d1-8f57-b8422ca374c4 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:50f9ff2f-46f9-4146-8312-c80a21c4fb73 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:d3065709-53b8-40fd-a478-f182f77e0343 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:fd304167-9c78-4f0f-ab00-7c7e1defe71a phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5a2feaf2-bd02-4ec9-a0af-d00886e0161a phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:313e1f4c-df11-4d09-975b-54de10938940 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:74847803-b0a1-4daa-bcb6-05d4529eca13 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:d39ecb43-7930-4454-a9b8-9401b028b338 phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:0c4abc5a-edef-448e-a821-88d0d2a58eec phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a5e6444a-5bc7-4f67-8157-4fd072e8f827 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:94478085-31da-468a-afbb-7a9ebdb94c64 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:007961d4-457b-4d6b-8ad3-f42ff511ffea phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:f8ad10ab-4441-4c64-bf06-6111667d4060 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:123fa1fd-f3b6-4ed9-bb7c-be08bffc896c phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:c80daeb0-7933-4ac0-a5ab-b8f1c25bd2be phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7f8a15a6-a309-4b36-a9b3-bae3e1f17b66 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:327397d5-4b03-4445-ab91-53dd66b1c2ba phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:42ef58c0-0ee4-4c2c-9b58-5efad3239493 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:df185200-b9b0-429f-bbe0-a6580cb014e3 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:3d8ceebc-bf71-45b5-b80d-723e287de510 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:f1c01781-d96c-4f78-9a95-410fd6f51d33 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:74bc0631-c6a2-4142-a253-b8e322ec167b phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:cf6b4b96-c132-4474-be80-d0e816e15bcf phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:9cd308f7-174d-490a-b1a5-eb106a00e438 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5a7e940d-f632-4fbf-9acb-4cbb2a08e79a phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:6d2293cd-c8a4-43d5-9ccd-720f0cd552bc phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:9e2ce2ee-c55f-48b9-a87f-73ff32e80597 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:85b3046a-bf18-4ea1-ac38-4df4309968af phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:627eaac3-8772-465d-b25d-34d74f1632d9 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:ad32f09c-e263-44e4-9bc8-e8354f563e88 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:9e711b56-b675-4ea4-8d9b-5af118346b8a phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:baef8f28-cdc8-44a0-bd0c-bbe3ad79463c phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:0b7752ae-d0b2-4b38-a828-51fe7fa33695 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7e17a15d-a86e-4f4b-830f-997747fa45ff phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:6c5e98b7-9f75-4842-93ef-4ba375da43ea phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:21274d93-473c-449a-8121-36650fd2bbd5 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:287dd6f0-3a42-4ae0-9679-174a14314064 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:31958417-0c73-4a3f-a3a7-8ef5744e0362 phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:6879e47a-0d22-4374-b26e-559991ea564d phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:256f72f3-996e-452d-aced-61f215a677d7 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2325c6f6-15cd-4127-b827-fe6903b937bb phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d84449c6-3385-4af1-9d6f-8395c9e519c5 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:26e786d8-56da-4f02-8ce1-157517f70e7f phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:6d0b2734-58f8-4733-a81d-30816dad243e phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2ffd1d7f-c7f0-41ca-a14c-bfb31043a489 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e9e59b03-c08b-4985-8f82-9fd51e7e3cd2 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d5eeac7d-78cb-45e8-ba8b-731919eaee20 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:64d6a816-f078-4d8d-97f2-b97ce8f97448 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a0302bf6-98fa-451b-8f07-ee08422c9960 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a701b431-c708-4662-97b5-b9602e57aa7d phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:21d50e1b-2d6d-45ae-85ef-03ba658607e8 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e235950f-d1d7-4c86-95c5-fcc19424aa45 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b5032ecf-645d-4ed3-83a0-ec7ae437c446 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:3c03ea2c-2e9c-4d35-9959-cb61d2c129e1 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:c4724a34-34b3-419b-abcc-7c42765fa0ab phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:e53904d2-77c4-4b5d-b42e-7eb1cafccd0d phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:893072bd-2098-453a-8211-c1ea1942fd7e phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:0a1ea834-f5c8-4d84-9f17-97c2af7c7ba4 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:cb035b02-b5d6-4ecf-962a-68c55233f775 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7783e017-c177-438f-bac9-048254bc079f phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:15112227-7dc0-4673-b375-06ebac60f5fe phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:0b8b79fd-e2aa-43d2-bf1d-7a75f47a72f6 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:fd2a03f6-c9ff-45fd-8c53-b8aa78ada2e0 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:68304674-02c9-4c27-9f00-7c8872a7423a phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7ad5dfbf-2fed-4076-ac62-5b8beb1a9721 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:933fb0a7-51c2-4914-be5a-b8769355c899 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:733fb7f9-f4fb-444d-8ed1-2523c6778662 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:a8966bcc-d4cd-422d-af1f-eaddac78e6cf phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:d93a6496-bbe2-49e5-a2f1-55850b601c85 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:d901c9c7-ad06-4d26-8896-d3ecc0faa452 phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:d301dd3d-46b9-41d9-8e62-b25593ef7f0b phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:6ffe2abc-5444-418c-832c-1828cfaee686 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d11c50f0-471b-4f7e-9839-1d83d6ae75e3 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d64af877-8c43-4a9e-a046-2d437bf519c3 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:4e24d133-6477-44ef-9d39-1344f816e603 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:ed6b918c-6cbd-4bde-8b0f-a62daa96fcb1 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:bede6002-cd13-4ab0-977f-ddf8c551d41d phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:0f0c86b0-5bd5-40d3-a583-df3e938d8e0d phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:13916910-20a5-458f-828b-6af1aa92a0f8 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:8857be3f-f797-4e92-9b69-e39d90c406ed phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:2d5a3c43-ae00-415c-b698-2b371f851359 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:fa46c2b0-f5a5-41a1-b5f2-d7ebc90f0c14 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:c8b69cae-5d8d-4621-8b61-826fca96c895 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:f5a78ad1-7fae-494f-8df6-788c8efe97b1 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:a45f99ee-62f2-4373-af3d-f52917129792 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:3f9f4368-4e5c-446b-beb3-b946e476224f phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:c071343b-6bed-4485-a5e3-decc4223138d phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:6c8daba5-f1b3-44b9-90bd-25fde8b28b21 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:f4bca5ab-d342-4de5-8f4a-4838f77ce777 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:04d4d15f-bc4c-4a9e-adb0-c141585602fb phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:5a164b6f-ec84-4efd-9593-182361dc3880 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:282d8ac5-4bf6-4a4a-ae98-48b0e7cb1ff8 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:c17844b1-cb8e-49fa-8109-f0326d54148e phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:3415e03c-31f5-4ecd-95df-3e321fe24ae6 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7e9c1d41-5e87-4de0-a1ce-9a82fc49015f phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:270e52e5-de0b-46de-8b46-5c353662f947 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:8f0a354c-ac7e-4796-8762-4b8b8fffb980 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:c80a46c5-ec2f-4cdb-b158-4ac99329cccd phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:95607e54-2ed8-49fa-b1ff-8d9b96a2e9ff phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:516f41e3-01d0-4904-aa0d-126a8e4e6fb1 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:e50f3b86-8b09-4b8e-b79a-de4cd9ede645 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:1f889440-c5b3-4c70-abac-e077af94f408 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:a5989c67-71d8-4e22-b2fc-ed235f72c719 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:14543840-809f-418d-85aa-a810004cca8b phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:4c808c1b-63a4-4d45-858d-660b1bd88080 phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:2a478b5b-3d58-4c21-ba4c-649ae4ba2a3f phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b4ad68b4-463b-43c5-89e3-47705e512330 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b4a06a95-25d7-4f01-a976-7b440bd13f00 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:4944e65a-bb56-4225-926b-0c3b29238b81 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:8c281c64-8179-42d6-8777-163dd4d88c3b phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e4a1da96-7fad-41d7-8b6d-c1eb47b70a77 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:88729adb-7cd1-46f1-a89f-d16afa2a5194 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:3cb4464d-e5b5-4bc4-ac97-e422953a7059 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d8433305-d8c7-4419-83b3-fb91c5a4e220 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e6a9faad-2f5e-4aef-a4a1-07ff1fef3e32 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b77c993a-7b68-4394-b4e8-64d44dc12efa phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:c5aca936-a2a7-4209-93b2-32939b34be50 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:64bb475c-35dd-4efd-b312-53a3fd82cff4 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:fdbd4562-2f78-4abb-8071-294ae92027ec phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:7e820d4d-ff7f-470c-951d-b62db4e2f17a phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:2cb32907-c8f8-471f-b068-8c31f925836e phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:07774a2d-f6f9-4894-96b4-3a4537562637 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:c5cd3d78-b892-4265-aa3c-1ae2ece1d18b phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:11f4096c-676c-41a2-baf2-f90fc7103471 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:885caf73-f5f4-4392-a747-c427832bf418 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:8f452345-653b-469d-8bbf-b826205587ec phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:a7ec34e9-4c07-4eb0-9889-f8f5052cd930 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:3fc3357a-060b-4121-9d4c-b0d0ea783315 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:319084f8-631e-4216-bddd-ccd09275fb24 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:254f94cf-781b-4a62-9007-7bcb96a1cb60 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:59e91828-45a3-4407-8d3d-fdecfd554519 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:b3525fad-01bf-4bbb-adf6-780ff2284720 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:30037cd6-f0ec-4438-9805-23062c2878f6 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:9d8049a0-ce19-41f7-9cb9-1696b553483e phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:d6d9214a-28f5-4d71-bcb8-7e7da5f72247 phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:a739d207-85ec-4a4f-89e7-a0f09c18f38d phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:7f8efebc-665e-4e8d-a219-62542d0558c3 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:5176eb02-7dfe-4a77-846a-b9e1ffdd24d0 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:6db446db-6c98-4146-9148-4823b012b1fb phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:369443f6-382f-442e-b241-e0a888c02741 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:9114a900-5fcb-41f7-b9ed-c051945457c8 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:7f452e49-ea36-49df-af39-4bacf6a8061e phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:7d906682-55b4-4b88-bac3-206fc79fbaa9 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d30b6164-7adc-4f6e-be71-09acf8091fb6 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:b0797ad6-9a37-4f62-be40-6fe92cce7834 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:e5536cfb-2dd7-49f6-af57-98d60651f34e phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:d8759556-ff05-4cb6-ae33-2425ba9db2d1 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:a78bb5fc-35a2-4263-b5af-87517c94a460 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:3c9fc3d7-4239-4510-803b-c4a6df9d2bf6 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:9ce4100d-9117-4387-a4fe-7935c49f3591 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939640 uuid:8a0277ab-0de0-46d3-93cf-1ad3bdc3521e phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:bb520fc4-d565-4e5f-975a-70408b0c506f phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:fac456a8-0e23-4771-896f-75eef0713b85 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:04943569-4909-49fa-b742-2f4751afdc5a phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:cb62f544-6b13-410a-91f1-6f3d6fa960b3 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:2e56faa3-e69a-44d4-b6b2-bffdfacabe53 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:fb516d2e-2b3c-4c03-ab35-43813f79ffdc phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:79d30e5b-8e3c-4d0f-ae06-46bc51416eb0 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:489c9ea8-e117-42b0-b51e-594cf9f82064 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:f83d3a41-b32c-46b9-b535-9b4ff0ec1f0c phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:d8ebe100-eff8-405b-b265-9ffe0111f110 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:8d486aac-4312-4e14-ba7c-d6254edf68dd phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:25e6c807-d03d-4c65-9475-636b1d658e4f phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:30c53d0f-fb21-4f6b-9847-ef2df763fc68 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:74af4a0f-f3bc-452f-bbbc-02e8a7b82fe0 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:8b20d19f-44b4-4c04-ae1b-f7eeda2f505b phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939640 uuid:c47fbf5e-c332-43f9-8ce2-02b0f77f1892 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_disease OMIM:617333 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:6420f78e-a136-4f4e-9b31-c85ea11df318 phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:has_gene HGNC:14255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939640 uuid:ab7119f4-dca1-424e-a94a-030b224b8cfd phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:70879159-3069-4889-9f8f-ea2932a08e39 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0004823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:94ac6890-d3c1-47bb-b949-79e35df6ba0b phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:e99d3bc1-91f9-4d26-80ba-0991dd68f547 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:39d00a1f-cdd7-4435-831e-e3aea9c2973c phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:8510b9f6-399d-4ea7-9a79-21d020fcbaa4 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:1693acae-d568-4e87-b17e-a46b63400f88 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0012134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:daf65c03-cf0d-466e-9832-c5b12839f84b phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:372889ee-3f27-49a4-86db-0ab25ad1caaa phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:51585f7f-160e-4548-bfa1-4b090c44aa10 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:1b4d236b-d517-4ca0-891f-17eb49522cb1 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:03476ed0-2a92-466f-80de-c64bfdc28f87 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:25678555 uuid:1e82a49a-621d-4a78-91a6-dc34cb925c52 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25678555 uuid:8f9078f9-c56f-46da-b6d3-08fcc64b18b2 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25678555 uuid:d4f70a6a-3e02-4f25-b859-fed686f4e665 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25678555 uuid:8559816b-28d7-4a8a-8bd2-bfdc543de2ca phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25678555 uuid:97444ba7-145b-468c-91c2-d09b68e0f156 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25678555 uuid:8756c48c-883e-45c3-b0c6-22fc2fb898a5 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0003112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25678555 uuid:8d5c64b1-b396-431f-b5c1-e2202770d8b4 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0012071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25678555 uuid:30a18ec9-1df0-41d5-9301-644447655068 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25678555 uuid:9d5b5ae3-f712-4927-9165-21cff64f1c19 phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_disease OMIM:616457 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25678555 uuid:553e2aba-0b43-4713-9b63-0b468775f34e phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:has_gene HGNC:1424 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25678555 uuid:29d38b08-264a-4b21-b941-5f27d4b693e9 phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23388215 uuid:809e8c13-379e-4ae7-8141-4d526bdfa7fd phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23388215 uuid:98eeb298-f03d-420f-9f11-79480c8e1a46 phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23388215 uuid:cbbc63f9-e106-47f7-86eb-aada8c707128 phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23388215 uuid:6c9ff14d-a8b9-4211-bca8-ad3d7013ce69 phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_phenotype HP:0012266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23388215 uuid:8085b06b-bade-4473-a473-8d1d2fff1d4d phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_phenotype HP:0034305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23388215 uuid:c95c2f01-d515-4228-9b50-5bb845ef71ea phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_disease OMIM:616247 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:23388215 uuid:4eac26af-9667-4d83-a4c4-f0234baccb50 phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:has_gene HGNC:1442 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23388215 uuid:f64d1fa1-7270-4fb6-a2ea-6449d94a5a60 phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27374306 uuid:de1d7913-fafd-4039-bea1-2d9a51924499 phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27374306 uuid:05212809-b357-4108-8e51-b6f3d46383b8 phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27374306 uuid:52534ba6-bbf0-4c64-8d58-9234aa9428d0 phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27374306 uuid:ccdad45f-62a5-4917-a92f-f1ef0c26552d phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_phenotype HP:0012819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27374306 uuid:5401d7c7-9517-4e46-9974-9bdbdb32e2b1 phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_disease OMIM:616247 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:27374306 uuid:81e9923c-4019-4924-bd88-802b97c95d5f phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:has_gene HGNC:1442 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27374306 uuid:49d5d485-7cdd-4047-afb5-b260ab54aaac phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:23388215 uuid:44698396-bc0e-49cb-8a96-dc375ba8cba8 phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:23388215 uuid:095f567d-4e88-4755-b9f1-5dcfd42aa620 phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:23388215 uuid:91fc3abb-1a98-4527-80c2-692c95684d81 phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:23388215 uuid:0697c7fc-b7a6-46df-8b3d-fbecacfb3191 phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_phenotype HP:0012266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:23388215 uuid:92d1f8ea-7e29-4e77-aa52-a65046126c9a phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_phenotype HP:0034305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:23388215 uuid:b45c9c09-c31c-4516-9e55-6c38ea3989d5 phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_disease OMIM:616247 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:23388215 uuid:ad276bd9-49be-4c6a-8bcd-24c3cf5b1369 phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:has_gene HGNC:1442 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23388215 uuid:4b64d95f-5177-4b15-8e16-52f4f20ceeb0 phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:31c3d9dd-2294-4096-af58-9231d30a5ce3 phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:e8961573-a293-4d6f-aede-24b6c798c79f phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:2d334979-b12a-48b0-afd7-91f20d3a5f03 phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_phenotype HP:0012266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:4b2beac4-836a-49f9-8a72-ac5ea409119c phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_phenotype HP:0034305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23388215 uuid:3f138a90-82d3-473f-9428-55044936b8e4 phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_disease OMIM:616247 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23388215 uuid:fd816fc0-b37b-4644-840e-cee880ebe38b phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:has_gene HGNC:1442 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23388215 uuid:ad165532-b4f3-4f28-8ada-9a05228b0b02 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:d1167aa6-1ee2-4c03-8f12-22ee163a82f0 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0012266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:8c663d9e-1dd9-431b-bd5d-0cd9c84eab34 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0034305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:97d1a901-eceb-480d-8553-43fa6dca1ed8 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:4e47177f-28d4-4784-a4e6-3a1336900e98 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:23388215 uuid:4140820b-2ba1-4bf2-8e27-3efff326270e phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:23388215 uuid:3b98c254-3d6d-4b4b-ac5c-d4ad46a969a2 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23388215 uuid:a2c05d7c-4b20-4351-a60e-03c9f535b54f phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_disease OMIM:616249 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23388215 uuid:40822ccf-714f-4989-9841-8bd7f1969181 phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:has_gene HGNC:1445 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23388215 uuid:848cab0b-93cc-478d-8550-4e92754aeda9 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:27374306 uuid:97a84b00-67c6-4895-8b93-1f38f222cbc3 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:27374306 uuid:88d408b6-c543-4eba-8f27-a504ad307b5a phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0034305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:27374306 uuid:76b80b57-e2b0-40e9-9089-edbe54c92ff2 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0030149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:27374306 uuid:eaa338c1-5843-43bf-9a6a-5647f2032c86 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27374306 uuid:81cca733-00d3-4da9-9f3d-cb7e05760b94 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27374306 uuid:a3e95e4d-f968-4006-ba58-d5ad00bba053 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27374306 uuid:16b76e02-a543-49cd-bbbf-d777cac5e357 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27374306 uuid:fe9ad132-e1d9-4e6b-bfa8-dd1061b327f2 phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_phenotype HP:0012266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27374306 uuid:e9843c93-69de-4643-be0b-95a0705c992d phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_disease OMIM:616249 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:27374306 uuid:6c5db4b2-55e0-4070-b2b6-19d66002774f phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:has_gene HGNC:1445 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27374306 uuid:63987680-d977-4a3d-ab31-215ef3d0dd15 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:24f901d9-eef1-4e58-bb1c-86ffaf763912 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:bfaf5312-7a83-4e69-a96b-5be5e7915825 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:2deb4bf7-839b-4bb0-afa6-134ba10cd3f7 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:2989169d-0ff2-482e-9b34-bd2f84833328 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:599c84d1-7d78-4831-b2d9-f4ae91c75a6f phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:ded9d3a2-da79-4768-a8d8-80ff1613190b phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:883d4847-ecc5-41d9-8351-d151e2a71d33 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:d99b74bd-bf3d-44b6-99af-f7a161ab6c05 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:da43d810-c19d-4216-a4c0-f4a6c9fddcfe phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:db9e7771-323b-4f79-ad09-06ea960fd085 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:67bbada8-1cdf-4bc9-9ab5-b8b9c7ad5fbb phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:27153400 uuid:8b485381-29ce-4e65-b811-9d0a441fb62d phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:ac5cdf44-8c30-447a-9929-aa63cebdb55c phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:2730448b-4c84-4bcc-bffe-e082c61e7a89 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:19251429-36fe-4c97-ae51-58cea3b24b26 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:424b959e-2e59-4b19-9054-f206cc30cd9c phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:5cdf8f0d-e62e-4e80-a7f6-37bacf007dc5 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:4ce2a6fa-17df-44a5-b1bf-a77d60a99c87 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:c6d3c535-8826-4bf6-97f7-558440b84c93 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:bd8d68ec-0f27-4807-941e-b8cfb3eefe38 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:9616693f-1b52-46cd-a9ae-7c01fc03f244 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:a9551372-14ba-4a26-985b-f0373aa62a94 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:bb7fd81e-e254-4291-9de9-053491cd4d50 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:db25f7e5-3b0b-45c2-a723-53d8c4e97673 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:27153400 uuid:b4ca2350-4ab7-4801-8531-347e7d8ddc79 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:a9e68301-90ad-4272-af00-dfd72fc35c04 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:2272e403-3281-4a45-ae65-a1c49833b31d phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:d43e01df-5bfa-4533-ac04-ee19fa122897 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:1d7cda1c-8dc5-4e74-8e5d-4c695800779a phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:29877d1f-2ead-4e97-bca5-7c03a503e591 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:01052345-e386-48b6-bc5d-28c4c37e5395 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:6be288da-3739-4b89-a7c8-00b1b5dd7aae phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:4be5e260-fb27-4a51-b7e2-ca2b66272c8b phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:9c11cbfd-39e0-44cf-8f37-1720512bba13 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:569513fe-4fc9-428d-b3c8-fc01f278a9f9 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:b73901ca-8509-4f82-9a87-18352a7c766e phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:4ddd6927-c917-4ca5-b045-f0636549deb3 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:27153400 uuid:0117b6a4-9a28-401f-8005-c2947b5a2116 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:7b1c92a2-0226-4841-98f7-0fd8ed69007d phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29379883 uuid:4c39fe13-6f25-4672-b0ea-f8f7c8f72cbd phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:29379883 uuid:3a295359-5c73-4e1d-a86a-68e8a60195e4 phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:481ee3b4-7190-4f7b-ba3d-048074e00a73 phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:274384fc-9df8-435b-9e3f-2706a0a21c1f phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:abe2e68e-26ac-4699-9443-c5086e813100 phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:9d0fb4eb-5ea9-485d-9303-0b3e200c664f phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:3f9d22ce-0400-4fd4-a3d7-2b5afd451577 phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:06e7276a-cb19-416f-a17f-1473d7b3b82e phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:29379883 uuid:b84b96b8-519b-4235-a2ed-aa10635372b3 phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379883 uuid:2773811c-0ddd-42a2-90ff-f97a20b02108 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:ff3c9f03-7b0e-4885-aa37-b82e5eab6b5c phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:61b47e05-ce57-4b56-8391-77b39b65dac9 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:2ff03f3b-ec85-4903-b0ad-b98b3ebc7018 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:aedf533e-e8de-4c4f-a5d0-54190e271a68 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:479c9c15-e430-4039-b7d2-fca0e9b9068c phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:82fd4a4e-6f88-4b3d-aea3-0df3b8388b78 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:6a1326d9-daeb-4084-8b0d-d5392efa460e phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:b7daab47-e60b-4655-9b55-515654cd2609 phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:7f8b9421-8d17-443e-9193-e061cf50f61b phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:27153400 uuid:79671a5d-3176-406b-9b5f-36561764c74e phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:1e36b6f7-2199-4c6c-8175-f315217c8615 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:58c0d820-f3dd-407a-b938-69768fcea584 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:ff6cc64e-8dcf-4b27-9834-7c233c7f1546 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:7fe7b9bf-371f-4854-a76a-ad5ef545adce phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:cb083142-1424-496d-99e4-a96af362916e phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:f1e0d8c1-c6c7-46f7-a729-beb35c21d5a2 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:2007432f-47fb-4b4c-a4df-8934fbd48849 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:3ffbc406-08f9-4ee5-8a13-8bdda7441a9e phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:47801e50-be6d-4dea-80ff-f7e2a0c77200 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:bfafd7af-6087-4ad6-aa0a-a64f20306e8c phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:4c5490ef-0833-4e8b-ad9d-6a649d717851 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:46dd6266-7a57-4896-a012-5873a2304084 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:27153400 uuid:e9816c17-5981-4600-a30b-bcde4141cc43 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:cc85952e-ab20-4e92-a610-6a4af87dd834 phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:28321562 uuid:4498157b-7e58-4cef-b9f7-ebb9d91c02dc phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28321562 uuid:5f4597bc-1f6e-499c-bc56-89e12d7bb199 phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28321562 uuid:e6546005-5e0e-47f4-836a-c33467add1d4 phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28321562 uuid:0e42501e-bf89-4701-af75-7bf49ed273cf phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28321562 uuid:e4383cb0-fc78-464f-8d7f-e61d6aa9f339 phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:28321562 uuid:0b359633-53d4-4bf3-92a2-c9eacb1ab5e3 phenopacket.store:CAPN1.PMID_28321562_sister biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28321562 uuid:5e94df68-da36-4d40-aa10-c43d3631a628 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:29379883 uuid:ea884eaa-a3e6-460c-b1a4-a923bb223ae7 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:92ec1d68-b167-43b5-b7f0-8e3af3cf4991 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:7a61d2cd-30bb-4e63-95f7-e2c0954cb03b phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:5bf2cccb-3fb4-45c8-a26b-8d247ea8609b phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379883 uuid:e77ffbfe-5558-4cfe-a553-a68c92dc0cf8 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379883 uuid:6f70d275-bda7-4ad4-8e71-4a9a4a68784f phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29379883 uuid:0ad30054-bbcc-4ab1-9e32-ac032a702495 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:29379883 uuid:54e2dfab-325f-4870-b877-f9b08678038a phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379883 uuid:b3ed32df-bf19-498c-b889-32d42ea5926e phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:28321562 uuid:d27cfde8-afbc-4692-973e-93036f46f227 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0002497 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:e3a2c0b5-1bfd-4065-9ba9-79f65c2770a4 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:4065b003-ad63-453b-b5a7-03099714c807 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:5e252931-6d5b-4f0e-bd71-123ba6bce3ae phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:e2a799d8-1ccd-4e22-9688-ea7c93fe8504 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:68bb7c4b-7296-4581-a804-15292967e8b6 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:4a47c4a3-e215-4856-8146-71e4f38c821f phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:28321562 uuid:688e61b1-f4e4-4c19-95c9-f7c381d82d06 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:28321562 uuid:dfbeee84-5418-4166-b3a6-b90d5edce115 phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28321562 uuid:fb2f8ea5-3e89-4b59-a663-645b1f95e138 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:61dc43d3-6b22-421b-80ef-ac64753219d7 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:3e4bbe07-a710-4df1-9cdc-ebc2d6003d95 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:7ed91c8e-8844-4691-a0d4-2c68cf816aee phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:e86a68ef-6f16-45ae-9b2b-e8ac850f27ee phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:7e3327d7-6c02-4a36-86cb-2179c8d3f17f phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:d0610532-fb0e-44b5-a39e-a4e468cd68b3 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:69e9a09e-5f2d-4518-bba7-bc540efae4e6 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:181badb4-cd72-43ec-b508-56af405e0122 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:ddcbc094-52cb-4711-8769-1852d28c042d phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:7b17f6e3-0466-4e7a-919e-370642ed2b88 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:b483aeec-566e-473e-b42e-5ab3769bc3a0 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:27153400 uuid:5905c58f-70f2-464e-8253-f06fbff62ef5 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:43ce2f3f-5b74-4cad-b36e-ad6bdbefa5a7 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:29379883 uuid:afe6ea9c-0032-4d5b-86ec-991fe0f7ebf5 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:29379883 uuid:a555bcc9-86b5-4543-b36c-fd1fa2d7f80a phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:83af26be-7c42-487f-b3e8-e2bef0109f10 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:c47fe9bc-4acf-4838-8aa9-772802f06b86 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:87b6a7ad-5634-4a1c-b70b-0bbbf89e41c7 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:ca5598cc-4fc0-4d5a-a275-1ca36215f348 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:f133fd7e-8b6e-4457-a510-4052ebf5a062 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29379883 uuid:5e415972-5614-4956-a0bc-ad6c29a54225 phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:29379883 uuid:4cd24a3f-d59c-4ca4-acc3-55431e78a1ae phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29379883 uuid:2311a0b5-08ca-4e0c-ba2f-cc5276da4b33 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:d648a32e-58ca-4291-a692-ccd2f17f0ca6 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:88f6a7e3-8575-4b22-8c17-31bb2a38f190 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:609c6b81-03f4-4c96-bb65-35ddb1cb6252 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:9a881294-598b-4ad6-90c5-372518e5a74f phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:e209e9ff-3282-4a1f-830c-697a52a6732e phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:f51066e1-f67e-4f67-8dbf-35f208d3b9f2 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:dd351fce-2cdd-43d3-b15c-7b5ff1fae27b phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:81072ff0-2a09-4222-a65d-cd4ee1d8dfb9 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:7f5649e0-e016-4df7-a1a4-6774859d8563 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:6d700c06-ed74-4db4-a7df-1a0f7046e207 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:9701df80-c865-44ed-84bd-215dc3e45200 phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:27153400 uuid:d47d88c9-773c-4740-ae75-32bf07282b8d phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:9401553b-f1a1-4645-b31e-5c95311261b7 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:8dc598ed-2424-4609-b853-403a2e811fe7 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:ff02fbab-007e-4cb4-acd4-6fc17e11f6aa phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:b33f548f-f84d-4f08-be83-b897faef8883 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:cc8a7ae3-828f-44a6-800c-939afc1f5511 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:12b9cc2b-5a99-4687-bcb0-20275f4e62a4 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:ff9828f0-74ea-48b5-b7d8-e2110afb4313 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27153400 uuid:fd717863-6934-478c-93cd-cfe3712be813 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:2df041fc-da82-4ed6-b066-f7ad1f703ead phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:40f013a1-3331-4f92-83b8-98781530d028 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:6e93c3ce-24c0-453f-ba2d-cddd4c801729 phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27153400 uuid:6e6ff39c-d2ee-4021-b678-38ae60143daf phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:27153400 uuid:9ac32792-a83c-460d-8f9f-e2d87a362d1e phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27153400 uuid:c921b28a-4b64-4e6e-a4fb-acf7b4492fce phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:29678961 uuid:881b9b5c-caec-42a0-9e2a-08f8dc620f7f phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29678961 uuid:2b7a2d63-11ef-4721-8713-26a25c430586 phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29678961 uuid:c4502f75-4e67-481a-8cf1-1e0d5ca144af phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29678961 uuid:9bfca855-26d5-48f4-aba5-1604fe6f598a phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29678961 uuid:0f2231db-8779-4e31-be73-cd9235a6537a phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29678961 uuid:ea4deb9d-9c2d-4190-a561-71c46d54b164 phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:29678961 uuid:84f3dc75-6438-4d73-87d5-4042873f7dc4 phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:29678961 uuid:989f0a22-fc0e-4b26-8770-abb975964d5d phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:29678961 uuid:8cc272e0-1bcb-46d2-ab02-13ec5634f65e phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_disease OMIM:616907 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:29678961 uuid:9c18a006-8971-4c7a-9d90-a30c7aa85e99 phenopacket.store:CAPN1.PMID_29678961_proband biolink:has_gene HGNC:1476 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29678961 uuid:ce6d18d2-7c1e-427c-aee1-d863bb01f80b phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0005954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:38230350 uuid:e499e5f8-432c-4c25-96d8-b92ed6765b51 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:38230350 uuid:add728c1-3e58-4665-adb1-ddba979979bb phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:38230350 uuid:55362f20-3656-4601-a9df-b3f7133ff6ea phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:4682283c-d601-455b-89cf-8f918055bf4c phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:8240e9a7-8057-427f-8d71-8a64c6021ccd phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:5546dede-394f-4d74-bcf4-8b6082a0c810 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:c55bf8e2-2454-4de3-ae63-60fc68839ad3 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:e8275ddc-6766-49e4-99b3-4c220dd8c815 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:31c28232-9734-4af4-92ae-2c0b9195f743 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0004749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:f6023be4-abe6-4fcd-8dbd-c15a67582097 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0001708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:68552ac2-0af0-42bc-8ee1-861834e57e9d phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:dc08bdea-a6e3-410e-b595-9b909cd980b4 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:50dcba07-6f83-4e79-838d-54fd60eae86a phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0025179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:7ffed474-5fa5-41fc-a593-42cb7dc6f2f5 phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:498f9061-4963-49fd-864a-43a84d09e5bb phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_disease OMIM:620777 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:38230350 uuid:11d7f7e4-6d31-4246-b7aa-abafbf87d7ac phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:has_gene HGNC:1481 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:b6040f53-e888-4c69-9374-fcba62796224 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:706c96ab-132f-48fb-b311-2573daf8e3a4 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:d0c2c20c-edf8-4301-b07c-bad0e3aba995 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:c2d111bb-ec74-4a71-8612-727a826890c0 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:c405a256-a878-48ae-8c96-53d39433f547 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0004749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:1c0b5328-de4b-4ca9-84d2-58a88fbe3fdd phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:2772434a-e7ab-4d70-b0ed-ff893583e4c3 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0001708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:b538158f-8489-440c-934c-c5089dafa4f5 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:10981470-ef95-4ae7-98a0-ebad4194fc40 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0025179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:cf9e8b3b-debb-4545-a93e-8688430f3ade phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:c2e93e90-eeeb-4ac8-8c31-60d1041be73a phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:10fe1d4a-6ca8-44f1-9468-c395c50982b1 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:1d8c5f23-afd5-46f9-bbb4-40410780dba8 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:c74fb915-1a91-45ba-9c1b-63fde4035ac9 phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:c8bb04ab-727b-4430-a0b3-ce870497fcef phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_disease OMIM:620777 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:38230350 uuid:9252dfa8-3fcb-4229-90d1-41d82cae983b phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:has_gene HGNC:1481 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:08e384c9-e382-4c42-97d6-fc2ec4d796f4 phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:8c61856d-a39c-48ce-9018-0b5ea086f50a phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:38230350 uuid:2b14274a-0183-4d74-b2ef-2c037855d2b7 phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:3b9736ee-b2f5-4bb2-9df0-f18328adf1bd phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:daa658aa-2a2f-4393-a132-01d0a94cb66b phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:194cb1f3-82ff-468f-8913-a9c7b6ce5a90 phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:3eed44ae-8705-448e-aafe-3f80c75a06fd phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:de67ea33-2d44-4f2a-a748-fe7bd23fc42d phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0004749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:82299a1d-61c3-43b1-9ee5-2aac5c354586 phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0001708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:be23a0bc-c4bc-4440-8658-22038d02b4ef phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:15163a64-96d5-4eb3-b0c7-0b9bf9d48f93 phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_disease OMIM:620777 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:500ff6c0-3e5b-4dbb-9b9f-e43471e3fd7f phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:has_gene HGNC:1481 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:eaa041e8-49d3-4d75-9be4-36f1ef057a94 phenopacket.store:CAPNS1.PMID_38230350_Proband_P4_family_B_B_II_1 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:00b8bd16-2206-43d4-ab8a-279ebb31ed02 phenopacket.store:CAPNS1.PMID_38230350_Proband_P4_family_B_B_II_1 biolink:has_disease OMIM:620777 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:ffcb0ea1-d263-43b2-93ab-da824e99e0a4 phenopacket.store:CAPNS1.PMID_38230350_Proband_P4_family_B_B_II_1 biolink:has_gene HGNC:1481 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:a3fafcc3-8c9e-4f9f-a5aa-0ab5f445dee2 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0005954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:38230350 uuid:e4a79ace-1ece-47f5-be43-1000478ad1b1 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:38230350 uuid:bddbbe9a-a322-43bf-84b5-310d7c14e85b phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0025179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:38230350 uuid:cac11c9b-0af3-437a-85f5-2d48ddd0310e phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0033376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:38230350 uuid:2e939b4c-1a96-43f8-b7cf-b4099d3b0c4a phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:d5be5852-6566-4af4-947b-c1334553d800 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:b9c12d72-025b-4ed2-a339-609bb17909f9 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:4ad6eed9-3f17-422b-b8e3-129c3c237b9e phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:3e788faf-b36c-437f-b9a8-5772f4f1073b phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:9b188892-e95c-4d56-be1b-11d7bb7cb445 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0032979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:f53dc3d8-bbe1-489b-b4a9-6ffe9554a437 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:cd56d6b4-8fa1-4209-a814-adae0484893b phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38230350 uuid:6a124707-2796-449a-8eb6-3cb81312c8ef phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:07cb64e2-b8fb-4151-b761-d56b1e8a53a0 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0004749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:43992f3a-8539-4c23-afe7-8702ca801b3e phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0001708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:730f7f68-d730-4172-b867-b63a8dc275ef phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:b2a9488e-324f-4249-82fd-bfadaa76bfe8 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38230350 uuid:f644d372-6cb9-4354-9b4d-5a5f15cc8c58 phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_disease OMIM:620777 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:38230350 uuid:dec2e668-3637-4040-8694-4d16507abaff phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:has_gene HGNC:1481 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38230350 uuid:40bef66d-02d9-435e-a14e-3f8e600cdd83 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:35979925 uuid:0412f978-cdf7-41d7-aa42-cae5846a9d70 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:35979925 uuid:77d624e8-e413-4c5d-8d7b-33ead09b626d phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:35979925 uuid:b7af2b3e-f3c7-441a-9bab-fcbc23701707 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:160a48ad-9d6f-4663-aee5-a3e675af97c0 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:b5f70678-2dd8-42bd-9b22-574862757582 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:d4043515-3d21-4f00-a6ba-5a6f07ccb81b phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:730b0edf-b304-4841-9203-4d7012c19a88 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f23bccf7-ff86-49ec-9920-44e4796d05f1 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:eb96130c-0685-40a9-8d7e-ad468dbc206d phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:42daf711-ceb8-4913-a9f1-2e9e57cb5a4c phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5484eb38-3a45-4825-8292-8e09995fbb1b phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b73e93a7-124b-4dda-8e9a-1cddd0db1de2 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:59d3321c-2db4-4fe4-b08b-953014ff251f phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:800a891d-f255-4cdf-899d-4d270ff0e038 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:177193c7-7eb9-448a-81ce-208e743beefe phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4b0ced93-8e75-48ce-a78f-9aafbbf8086c phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5dbcaaab-1d17-4f56-b891-3fc2d10f0163 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ec00cf3d-c1c4-4eb4-8079-23db513237eb phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e90a3d63-ffaa-49ce-a907-e623f497876a phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8a9ebfd4-de09-4af1-a071-ce3ab68ad276 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:66599966-3904-43d0-b024-82b1a9d35028 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:861d427a-3f6b-41cd-a707-753ac2342377 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9d724fda-7624-45a2-9b52-831eb3cb7a24 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3d2faa82-9dc0-4bf5-aa75-fd7aab431863 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:46d1258d-602a-4103-84ed-82b85651fbee phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:25facd07-aba2-4ad6-a0c0-f0a30bb49f94 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b09c6daf-a7ad-42b9-8fbd-c3b1e4d17a37 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:13618200-0327-4e3f-9683-f310c9289627 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:175e340a-ab64-4661-8a2a-d46847cd1658 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8e013d8a-0008-489c-abb9-db057b85ca53 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:edb53a46-66be-4a4d-bdb4-a98b574b186f phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4f166a3c-d29a-4a76-96f4-4976975ff989 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ac1d3439-4e12-4dce-8247-a6c323df9436 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b71c1ba3-863b-4d0a-90f5-43b4cc5d0c45 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:35979925 uuid:ceb51513-d0f3-4367-bf41-b9285702ce93 phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:4c5170ab-577e-44d8-be67-3886fc944853 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:248192fd-32c4-41aa-8f79-67b1b8524c4a phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:4010c467-16b3-401b-a528-f021a7abd761 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:af79d516-ef68-4a64-be2e-d002cf49a04e phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:4cc26047-e2dd-47ee-86d0-11d20722ec1a phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:3af25ec7-1013-456b-ace5-f6273f2c1ad5 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:b6824a2d-dda4-4685-b5f6-e2dc469cbab8 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:78488486-ea21-4bc4-8422-50faaccf1603 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d896b2ef-9f32-4e57-a5a0-0491a26720ab phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:64853441-0eaa-4087-916e-6f580ea6f72d phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c84ace47-1594-48e7-b3c0-ed31d51b17b4 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:40b50948-2134-4ec9-a968-b6ce0ce58de1 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5fda2531-81c5-4c0e-92f5-4a5f766cf80c phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a3dc8a3f-2c69-4300-a196-63cac785e490 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:43ff25ce-e0e8-4f19-95ad-87efd0f58b73 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:292c72af-d607-4c5e-84d5-175587a6eb7b phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:31c2acc1-ea8f-407c-911d-57c72b80e9f3 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5e301ebd-708a-47d9-b49f-4d2f1ee42fae phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6763f20b-af3c-4ec7-939a-2478bbb89e16 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e5820a30-4a17-4327-84eb-12284977bb22 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5473ef1a-6653-448b-bee3-841bc6ca1d80 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:59b6ae30-4dd2-4f66-b098-39d720522896 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3fee8616-1321-4458-ba47-ccd665b72535 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4ba909c1-eadb-4e38-86b3-6e2161bcb22d phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:11148b5c-64ba-479d-ae5e-ea1e4646259e phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1e48cedb-9534-491d-ad1b-db01a9505fca phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ab127b65-f9f8-4e70-990b-2cac1b1c4e4e phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1a0e5add-fd19-4922-b59d-7abc0c42d8b2 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:98dca44c-fd44-44af-920d-b7c509e97a6f phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:75e7b7db-7bb3-4dda-af73-083f5c062fbb phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ef9672c9-14da-4509-b6ea-2230d4a40e73 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0ae01f92-d5e4-4fb7-8872-9741d3fda271 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:be4ca9bc-8474-4e19-ad33-fbd5161df3d3 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0a91769c-6117-4f2e-8850-39d5f53b508a phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:714c6514-3743-4fc8-8e27-cf620011fb37 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:ef848b2b-112f-4387-8594-9f35c6199b21 phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:92dcfd45-3d42-4b30-93fe-ffec40414412 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:35979925 uuid:b0549ccc-0499-4bfd-b124-9f213131602e phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:10dabe8e-becb-4f72-8241-7af8fdd1445b phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:76aa50b2-f111-4d4f-9540-14c48a14920d phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:867408f6-1a2d-46cb-845e-b89493f119f2 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:d1cc7931-f5e1-4b40-8414-65171ce3708b phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d1af2952-43b1-46a2-9ffa-c0ac05f3ea57 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:35862384-6a2e-4b81-bcd3-ab57a9619a3d phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:52ba5d6c-2c18-4376-ad08-b616c6947778 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:702eebae-9a77-40ac-8e86-a36904e78e1e phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:12fcc285-fa5a-4dc6-85b1-f199cf2a1e72 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9d06a80f-2b2d-473d-92fb-df1d289961fc phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6f9cf0a5-9ea2-4e50-b03b-ceb3e40ef217 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7b0df274-7fa5-4991-ba62-37e53c36bd3d phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1ca7a0b7-f714-431e-9641-1b0b8ba1e969 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a5c8837f-9da0-4f91-b9aa-963547ee431d phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4a57e688-cf8a-4210-a6c3-53888e5aee73 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:49b46126-cda4-49bc-a8a8-dcc8e45a2f50 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9ce96bda-4600-4d48-bc7f-dc1fee8908cd phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2e7bfd06-c7b5-423f-969a-b7f391449308 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2f09166f-d59e-4cc2-8719-d43eb3e2a757 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:108bb710-da35-4e58-99dc-ff9277cd37d9 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c1f424ba-db11-4649-9c14-4f9e60f2fc05 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a7a7f8c2-0827-4708-9d88-1bc9f2933e5f phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5887e939-a0aa-474f-8c0a-ce5557153469 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2a70e5a7-a30a-43c9-887b-062bebc75fbd phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:17009909-e40c-42b1-a64d-f13c3c945a40 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1e19e06e-fc88-41cf-af65-dea275c6fb47 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8ec572ae-c7dc-4550-8926-f559ca1e67df phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:47656b60-a5fa-4bd2-b0d5-e5c6fe49b3e7 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:35dbc73e-82d3-4bdf-bc85-0f42f25da664 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:bb83671e-81be-4c27-ac38-9bb528ec88ec phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d46df47f-d46b-4b44-b783-e419aa77b1dc phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a068a35b-abb7-4584-aa5a-e93cd8e057a8 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d7e4e0e6-5532-4eda-bb07-172154a80a27 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:8f543a88-a9c8-422c-8ab5-92238f572b11 phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:bef8acdf-f886-4de8-be60-ebb0d2feab0e phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:36136249 uuid:e48bd781-a8ec-433e-a474-e263335cdec1 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:36136249 uuid:a3c46644-9476-43fa-8249-72e32f193e61 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:36136249 uuid:2ca0e69a-8789-435a-bf18-5ccb8885c303 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:a8a277e6-69fb-4d38-bd52-582d7f062198 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:e126c7b2-05b7-45d4-bd36-2e29ef76c6b6 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:0f0c4b28-e660-40f3-a439-c52587632cad phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:74e033ba-2420-4d33-8bdd-b32fc0082580 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:abb39b4b-37a1-40ab-9db0-671151eac1fa phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:c6ab8efd-1c5e-42b7-8161-c9c39f8f2566 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:a5a658a1-06fb-41bf-863b-724cc0e36671 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:6be2f3fb-d84e-4b34-b4f9-09d938a2ef66 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:c40492e8-805e-43ed-bd85-1faf5a6d6839 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:2ed4cccc-b31a-43e1-89f3-42e1e6642f45 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:ca77c081-4244-4768-a745-7dd2c0218e8e phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_disease OMIM:620636 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:36136249 uuid:70e8768e-a244-4e2f-b4ba-566b4ab9b562 phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36136249 uuid:135ab898-d6f6-42e0-ae9c-d09a19fe9279 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:72df7d37-02c6-4e38-b280-7a9e4cb79ac9 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:6d6a9646-fccc-4019-9c04-d3c35dac0128 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:f6f7e7a2-dc40-4455-b79e-822cc246348f phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:da8a591d-69ae-4ecc-a302-87c1761820c2 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:8da9b3c7-51d8-4772-af78-da653b01ede4 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:2d4eb6e2-b510-4128-b156-de8fcb6eff09 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:048dcca2-2a0e-4f63-bb38-6e6d7915bd55 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8178482f-cceb-40ec-8d82-a505b91f2af7 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7108eefe-b6c1-40ff-8551-9d235d7bb273 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:eeb0df65-fd9e-4676-b7c2-ca58c3ca5ece phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1d9e8fe3-f1d1-4674-a10f-76a2faa27604 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9e75c359-a15e-4025-a522-d66c9202618b phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a12e9b09-d169-477c-82e5-48e72417e7a3 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f5c3a196-f3a1-46f4-a5b0-70c480106518 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:cc8697ef-ccbc-4825-be07-ec3a3c1c6206 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a6c998e4-c47d-4c87-9717-027f65b18013 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1a511fef-4b13-4e07-b89b-51a7ff418794 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c4cdfcc0-b798-4eac-aa19-6b5ad2dfc74d phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1eb0bd2e-da48-40cf-924c-1014be5a5d51 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:56dd0a29-7334-48e2-b447-140fcc21ee67 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:166bdee8-fcf3-4647-a152-7940bfaa7526 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:175e22d5-c552-4149-8360-59dea9f6c66c phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5eed44de-95c1-4ed2-a2f7-ed16ef17cac2 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:85ffdf8b-e505-4563-b945-54caa3929575 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8ded825a-c16e-430f-b6b7-c12d45cb184f phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f2c702a8-dbbf-4132-a463-f5f05d7d66ac phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:20042ff8-1ee3-4eeb-bb1d-f7cb133cccfb phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4f3f1fac-20e7-4794-aed8-5dfc72b7445e phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3ab850c3-8b4d-4f94-9f8b-ca5eecef82aa phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8d578969-8918-481a-a085-b2fef9252699 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:78587270-8d20-4f94-964f-75602add53dc phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:de12312f-baa9-4dfc-a663-ed90c439d7e9 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f48f7984-d45e-4378-a367-0d8a48452e02 phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:117b8d1a-bfe7-4617-9736-c0ced63be8be phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:5f3c0a20-cadf-4558-97be-3ca6c13e756b phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:f6a9069f-92e2-4162-b77f-f2b3f200c04c phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:aa5b7027-b135-4be9-98ad-dfbfe57e7bd1 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:c3f24208-ec9b-455d-8d24-2ac90528cbfd phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:4051ca5b-7301-4c8a-a502-090a1c2443e0 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:76d2edb6-f900-4038-a8f9-7bf5eb233585 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0b70e78c-5761-4b8d-bdc4-6b46a280e328 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fddd627d-9c0d-4c97-af5f-6824c9b9dbee phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e4a59b77-282d-43a6-82e9-018cafdfe248 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:52e069e6-00ac-4535-b621-2b3659d34d94 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:89b121bf-d876-4771-a26b-e42876002560 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:17fb1391-2d8d-4465-b7dc-12d79fcd2c9e phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:71f12e4e-e13e-44f4-8c95-462e1bfb78c4 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:aaffc8e9-f173-4176-afb4-f87e640043ea phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0159479a-04e0-45ce-80f7-572786c8b7f3 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7efcc456-80f0-4f46-887f-417b9b024bc7 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:170f905c-009b-4367-8d92-8992b1d810a0 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:46c6c943-ba38-4772-8f80-cb84e37ba6ad phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:988cfd66-b73a-442d-9f5e-6a5e7939f0be phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a8b083fa-1e10-4f0e-ba0e-2c27ada03bcb phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2632ac11-fd8c-43bd-8480-065bd664519c phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:630034ef-059c-4d4e-8dd0-875a7face35f phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0ea2da53-ce51-42e8-a375-34a2862845e0 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8521f66e-3a7f-4c4d-919d-d0d8a8700dfb phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9050b768-8d5d-4995-8f64-25d62282bc57 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7a3db385-9ef0-41f9-a310-aee242466ff9 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:96336559-2e55-4219-989d-556cd69c14ec phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:dce8eb13-6471-4cab-b7f7-43c17f656301 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b8698459-28e4-41cc-b51b-92b40ea69e70 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:377c7846-1700-47b0-9502-0a4d8a654ce3 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6af63e04-7d4c-477d-b0ab-4bd5c8be0eff phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:103cb693-152c-40e4-979c-5cd342a30e6b phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d89ee574-6c6c-48c8-bb4e-c89f6fc8de21 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:835b2369-76fd-4d80-b961-e46b56c04a9e phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d4c04738-7ce5-4e52-bc3f-1f3691208ee4 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:15c430a4-d3a0-4741-9f82-3a300869bc84 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:3b03078a-06c0-4b8d-a05f-64ffac960a13 phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:cbe61c40-1cee-4bb0-bc9f-cbca540f3802 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:ab817966-8751-42e6-beb8-e8cffaf9165c phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:35979925 uuid:eb309cc6-e1e5-423b-8ba8-185494672849 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:9b8c81c9-06ec-4ea8-8792-13dc3f9dd336 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:d382f751-fe72-4aa1-8bed-d15ebd077865 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:82e61694-9ff6-4d8b-bde0-76f75da0c56b phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:cb0d8482-e08c-49da-876b-e21a95c3bd61 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:f5cd1461-3292-4a2c-98d7-f6edab8d86af phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:8d81f82b-bd37-4c04-846d-7d4ae15a2f0b phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:ea48c03a-9819-4a5f-a8c3-90dc491292df phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:d682df6b-5745-41b1-a8dd-0c1af1bbac47 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:6a854eb0-74ea-44df-b2af-ba5f89a55f1c phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:7e5834d6-2217-4e1a-963e-d15d2441185c phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:0db479ac-b3f1-47de-820b-91931763568e phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5473b8a9-f54a-4c72-b4b3-ad6a9713f068 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0fc32ccb-eff8-41a2-adfd-7ceddc1ba7d0 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d9d1b97b-42b0-427f-b79b-20fe7f22117b phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:64256614-961f-494d-9471-db43e538e2fe phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7d2a45bd-53b6-49e9-b471-f9151fe6afcc phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c943f925-95c8-4d8a-bea1-2c502e30375b phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3fd7b90c-3a6f-4563-9cf8-e73d31d79ed0 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f101fb5f-78b5-4b15-a4b3-ce6dd4677d5f phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:121128ed-4348-42c7-8069-498a005c019e phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1262e46f-f5cd-4045-8e6e-8578c7b38f1d phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a358873c-5518-40a8-aede-7b8754569acc phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9232a64d-6771-42e2-aeca-63c76db4c4b0 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:08c5d70c-5dcd-44aa-82e0-06248009c704 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a008f603-22af-4c23-a22e-115baabb2708 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:74b83acc-9bef-44b8-bfaa-b2988e9627ee phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:dad983ac-c308-4242-bc66-3b669e2609d5 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:42129ffa-9e49-4fe4-9b30-535d2e865b6a phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:94b27cc2-d4dc-4ad9-8cda-d9529be49e77 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c580e50b-3e63-427f-aff5-384146219fd5 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:eaf10ff7-389f-455e-b069-41dd3b91aea1 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a96f010d-28cc-4cd9-bc6b-b46facf91ae0 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:4fd1c34f-13c5-4105-9585-37596e52fce7 phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:064cb3e7-090e-4c97-b363-985c69d536ae phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:1597a589-17f7-4b97-b82b-179ccc3cdb27 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:c79843c3-02c7-4b4f-bf54-5e62255a7ac0 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:e8711384-464f-4c09-9e65-e45503be3435 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:a6248bec-c6a9-44ad-864d-2b860461984c phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:943d35a5-d884-465f-9e96-878bbd2ce39d phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:0ad8b353-2395-4010-b19e-7b804bb07965 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:c13844ad-6fe3-49d7-8705-b75876d37b6b phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:97ca8d3c-5d84-4e7c-8646-5e5978f5622a phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d28eea9a-25cd-4ef4-9a37-f78dc7b0efef phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:46c6d974-1dde-4cbf-a31b-8b0e0812a465 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a8c9ceef-1ea0-4260-95fe-82b6be28ae13 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fe575023-a4ec-4ce1-8f3d-6c098dd08ee0 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e8c1029f-9dcd-44b5-94ce-a7d4df9b265b phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:727adf65-2364-4287-841c-1908f278c003 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3b4c3e01-80b8-4c39-8790-8c9ff5d7f83f phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:01486e19-480b-402b-9ed3-62072345be1c phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2ac0b18f-cfa9-4400-8c22-a20d1fd755a3 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6e07e273-519a-48c3-829a-a557fe814566 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5363c314-84d4-4cd8-a89d-8a93adf8a07b phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c8ac38dd-a09c-43e7-ae6c-dc7f4c1d2516 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:37037784-1892-47cd-8dca-3f2bbd07e46b phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6a1a76c0-9de0-407e-b3cb-6bb617192d29 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:dea1243b-60ad-4471-8b69-73e0194608fd phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:acfc5d96-d03d-4c9a-a674-cf431728dbea phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2bea0d6a-603a-4b11-8482-d54b1450d453 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8e0ca346-074e-47ff-a05a-ab4b4a96b785 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:270e425e-bcbb-4141-8840-1df5738985b5 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:02152b55-5c80-41a7-8e9b-a1fbd30b2fbe phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:055c7d4b-302f-4595-9be3-0036cc3b4685 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a2905ca7-ff72-4fb1-b839-2687acb9f44b phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:616ff48f-bf06-42d1-be29-db3e35952bae phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c1b8a8cd-446b-4207-8a5a-4d6f73bd66a6 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:67d0c0ef-69af-452e-bd13-5c16123a085f phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:abf1de41-d180-48a3-af37-ceb3f13ddde5 phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:a87ec21a-01ca-4b49-b0ce-3b0f756e62eb phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:bcb163af-8b20-4582-9d61-f8092b5ad106 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:44909553-e022-4145-97e9-ee4d6eececc4 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:fb53353a-aa20-4a7e-9f20-54d4f6b94b18 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:435c5ef0-fddb-4c35-977b-05a35380c8e8 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4605a131-0f06-4eed-bc48-45ef5050083c phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ef1f63ae-7afd-45a8-b7f9-1ead514edbeb phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5f30293f-1381-4576-919a-25194119fd33 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:29d3621c-173a-4c42-a9e9-7e184a1fa31c phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d445011d-d7a3-4ee8-b676-be6be0194434 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:47378ad8-21ab-404c-bc4d-4dc680805d3e phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0ca4bfc6-3efa-493a-85d5-7867add9de08 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:86c9c479-6443-47ba-972a-99d0de5004bd phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:242ddd26-5644-43f1-8b3c-e063e23c4f49 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f28e41ef-f864-49a9-83cd-fa80cda65651 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c4c427ee-f536-438d-974a-b8cff575c81f phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:54afadc8-7f6d-4197-a114-a009300365c5 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:64d18225-2c7e-4cc9-a98c-30dbef7c9329 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:221527a6-2148-4787-9869-25080acf1d4e phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:acf344fd-f22f-4fa0-a12f-dcbaf42972cd phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8538fb73-5c65-4745-8d36-75fb6fe0d922 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a17953da-7aa0-4e66-95c0-84e7c8e8b961 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8f1d2f95-8bfc-410e-821c-ddf016efbcc1 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fabce0e4-53ac-491b-baad-474cf448ba9e phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:55eb8e03-d3db-4e34-9edc-9fa81568591d phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:745c28b9-f335-4bc6-8700-313ea5340cc0 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:31257324-a444-4017-82cb-906f239a3b59 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d487c7fd-2396-46d9-b042-e38045123b47 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:932b263b-418c-4ed1-91aa-52119563df53 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0b6870de-d403-4715-bdca-c0977cd84429 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1232d540-8520-462f-b241-33030e07288c phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:beaedd53-3a27-43d7-8c66-1df7151c31cd phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:eb34ecd9-26a5-47c9-9ba5-05a9d0c14f9b phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3d73b7fd-8e88-401a-83c9-983df2c2284a phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:af1cbb6b-a16f-4f8e-9201-0c289b38d7a6 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:599d1cdc-2cd7-46d3-a729-767cbe01897a phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:f7ac21c9-a967-4e83-9b80-c8f466714812 phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:1a4b95fd-d18d-4732-b18e-e9fbac804d5d phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y5M infores:phenopacket-store PMID:35979925 uuid:4389643c-b3a5-4d06-97dd-8eea6f9dbfac phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:14a9b33c-1e09-4e83-9a76-1473c653f562 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:60b1cc97-9006-463f-8aea-75515781faaf phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:89acf37f-accd-41ae-8000-f68c8725ba2d phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:09db8468-5389-49ea-9aeb-ce463c7395df phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:b53eaf3a-49c6-49f4-9458-bd29c0103a0a phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:1b979b5e-b615-488e-812c-442c42b5f6e8 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:d9579db4-88a0-4e07-bc5c-d9c5203933b0 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:ac2fb245-85db-4a53-9803-5ea3b99af37f phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:a50c95f8-9f95-447d-9def-9f87db12f035 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:dfcc5021-6209-4fc1-94fb-f0e11093e71f phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:43de9bfa-bf91-4016-9e41-a009a85b6b17 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8a1d537a-2f22-462c-9acb-4e0c0642eeba phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:91984db1-46ff-40fe-9aa6-33ef2411f640 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f9b20a01-2600-4a6f-91a7-79bc733d89e8 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1d8a9d96-8240-4fd4-8c9c-8b93a75b393a phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d28bcda1-a16b-45d2-8d1d-d9a885ec0b72 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4a23d10f-a4d5-418e-a4ad-c3a40632ce9e phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a7114022-4414-4522-9db7-d924a330b1ae phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:dc765375-9c72-4aaf-a8f5-3219ce8946f3 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9eb40aa0-7909-4c11-8ade-5e3110ff1efc phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a5133199-05b3-4d2a-81f1-6cf687c6ecfb phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:099319e0-2dc0-4ba5-9588-71cc963d1428 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5a1ff942-1c57-46f2-a5cf-3e3175ae6afa phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:bc1e38e8-f527-415f-aeee-a0be00784ae9 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:af5a5ad9-7c4a-4505-9259-fbaf4c917ff5 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e78fe992-1d2d-4b97-b84d-4796dc6f35f8 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:18c9e6fb-07cc-40c7-8a8d-481275e65779 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4cefef73-6478-4537-a81b-ec251df3f582 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:69a05514-2400-4906-ab2e-482bfe69e3a3 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3dd1fc98-b57c-406f-b956-67b29a3024d8 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fbb3870e-ae38-4732-abbb-3e210b99c555 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2a9e119d-eab9-4770-b4ab-94ba60301cbc phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1de0772a-982a-4cb7-92bb-4e18f591826d phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:8a322d1f-9e37-42ce-b9ad-fac3359772d7 phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:0d66a5ce-2dfe-4fc6-b32b-12667a0a863f phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y5M infores:phenopacket-store PMID:35979925 uuid:7e826a6e-b141-49cd-b7db-9de5bd6355fa phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:57e822d5-7805-4d28-a3a3-d217b4b93bc5 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:f6b5179e-37d0-4109-beda-5bfac840f70d phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:6fcc9ce8-27b8-464f-9c24-bd722221de35 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:d05ed07c-d2b1-4385-9547-b02d2c58688e phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:43907e7b-f565-409e-aad0-28505214629f phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:af8cdf9a-a006-429c-9c4a-41b1b1490fd6 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:0921b629-992a-4000-8b52-1d8a01d0e208 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:3d4daf18-4ccb-48ac-aadf-99fc01900103 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:87f9db4d-1429-4583-afe7-98a57a2b4b4b phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:19fc0263-618e-4689-9459-8ec05a770e2d phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:27f4a196-d58e-48bd-94d6-68f390ddd22c phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:bf5af1f5-2432-40ab-93f7-7054fc1d8cc8 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c3046ad1-7080-4daf-b5f0-4ffe21044117 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3a587e06-037f-4ed0-8963-4bd2533e93a5 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:bce5b486-4833-46f4-b208-2ae67c02c5ca phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e70894b4-a3f3-41f5-8c40-e95e60c28675 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e9aa075c-d775-4fa2-85ff-e6704c3a1df8 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a515626f-c198-4443-95dc-0cc9748104e8 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:70d46f76-1c9a-48fb-ba75-00d5cd3b88b7 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f59c9744-a00e-4b2a-a1ca-245bca93bfdc phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3f0c6b16-47bd-4f29-88f6-d0b55d0f6856 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:67bcbbe9-c9f8-42f8-9dec-a62622242824 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a47612dd-aa96-4408-8c1f-02bc51f0074f phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:a958f7e0-b73e-4707-857d-b9dc7f1ea279 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fe15b993-d804-4428-b7bd-0253b82e854e phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1e78c729-ba30-42d2-99dc-7403e578b3e3 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6c4b6053-34eb-4bb2-9038-e117825d2589 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:43824a97-efb9-402e-9e9f-9840a12b20e9 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4519cca2-d535-45d6-848e-03d6e7136133 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e45ed7e2-e80b-464b-9c8d-3d96880bd5b2 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:76c2eb34-d632-40e0-8fbf-be80f5bedf99 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:4fabab83-cf6c-4349-8abc-010bc2d6c007 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7f2072a0-3271-41b1-a1ea-bbe867be9161 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:da10cd0e-467e-445a-9bf3-02675dbcdc86 phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:0c62bbb5-5acb-41a8-ba93-18e33a514301 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:36136249 uuid:bcf2082a-db84-4b7d-9bcb-d8c2939fc0bc phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:36136249 uuid:23683438-9991-4b65-9874-625866f7b0f0 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:36136249 uuid:02cbec84-5e74-41b0-9e3e-175e0cc6ed8a phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36136249 uuid:2fc81dc6-cefd-4060-a19e-aa78465bc692 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:2f475705-0881-4bb3-9392-27eddc45199c phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:e1d68a95-afd4-43bf-aee4-8fa2e9bb84a8 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:38a64213-79ea-45ea-b2c7-e42aaeabf02e phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36136249 uuid:33eeccb4-c95e-45a4-9d1d-f7e379c8ee96 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:764a202f-ff45-45c7-b8c1-7227b90d1fe8 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:229638cd-6596-4790-ba2e-ac0f758f2433 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:cd75bd1e-2749-41ba-8306-747b5de52071 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:41223348-d0b7-4296-92f3-15d571e49a01 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:9eebcc57-75f9-41e5-80d8-0af8f5192cdd phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36136249 uuid:ffcc1cf7-b021-4b56-b2c3-0883ad9fb774 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_disease OMIM:620636 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:36136249 uuid:325672fb-772e-4d8e-94ad-c60a12ac0c65 phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36136249 uuid:f2e55743-6258-4f4e-a166-655180316858 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:35979925 uuid:057df7e6-97d8-45b5-acb5-3a7db36f7d9e phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:bab2fb6e-b06a-4202-9bc0-e93ac79f5cd7 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:f46e058c-43ea-4ebb-aefc-c040d1de70e3 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6edbdb76-d9ce-4b1d-a459-ca39c96cc0c5 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8f1c5308-2864-401c-a1b0-5ed0120c4247 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fa73a535-414b-4b70-ac28-734641611b25 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0664f4a7-4482-45d4-87e2-986315fce8a6 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:54380fcc-f5d3-41b4-9109-4f5e5ed24009 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7da55817-9570-4380-a116-10e8d3e0e83c phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1fab16c5-4874-4db3-b989-f82f2b70999e phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d71b5d1a-5faa-4cb8-905b-c4d84532e5ba phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0ca1a8ef-65d6-4548-81e8-e01686dee685 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:90e59b10-345b-4b15-8619-fec85dd1579a phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1419806d-bd08-4421-a053-e0958fc8c19e phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:46f8a8ab-07d4-4a63-9c24-44a49bae718f phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e9b77f7f-86c1-4e9e-bcbf-7dea14b3a438 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:37b26a11-6455-4f0f-b335-0fb716fa4a4a phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5698fd44-60cc-41fa-aff5-a311d30ebec2 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:73a477ec-8c93-4f35-9924-2959906a2884 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6843b261-bc3d-407c-b451-be9eb53d2e93 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:d801eec9-276c-44b6-a4d9-004adf1e0335 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:bccfb183-c806-4104-9b0c-baae473ad588 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:74a9c193-34be-42c1-af51-ce879ca9e927 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:489b3e96-3e2c-44c1-ab98-888304907d28 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:02375ce4-5841-44c1-ae1c-c334bd86cf4f phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:462c0d6f-43ab-4388-b271-866f4804a203 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:c64f6962-5c1b-4d3f-8a1d-340dd402de50 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3c33f5c0-cfbb-4aba-b2e4-e0645a39846b phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ca0159d1-03d1-4051-aad9-060da699b6cb phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:f318560d-6357-4ba1-a4a9-062beec81cbb phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:5b4a09ba-61d1-4492-b4c5-1fdc665f59ca phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0e16efbf-a5ae-4551-a4ba-86e7f823ef9f phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:042eea0a-d6cc-4014-9aea-7813bbe18bae phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ca30cec8-0448-4c6d-9074-50a5989ea93c phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:35979925 uuid:537a98dd-d090-421d-a56a-36edb1b7b6b5 phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:c1e27976-2d0f-4d9a-a694-9e1730f4b932 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:ec7a0024-c14a-42a2-b709-762f9000826f phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35979925 uuid:5a625cc6-7a0b-4191-91c2-9dc41e71400d phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e0e89c27-3e22-45ef-a174-6ebdb286448d phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:20209468-fcf3-4357-9abf-24239cbd1f1e phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6847fc72-cc26-4205-87c9-5f4f17aada20 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:45d8580d-d811-4e11-ada3-9bcbb99127c7 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:0173b40c-21b1-4416-baa0-d402bc1332ee phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:348135ee-cf14-4201-a662-610169399f07 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1ab15cc8-7472-4712-a9e9-e5d212bc9eaf phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3cde8b5b-1420-4c74-96e9-836d1a6b1a18 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0011265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b2d9b22f-33a9-4752-aa0f-ae364bb4cc29 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:3fee1435-2773-4d93-86ef-80b41cb5ab09 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ccf865e4-39f0-4c62-946b-17f453338ff5 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:17ef93c4-5085-45ff-9ff0-91b46662082c phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:8848f020-49ca-4e05-aa2e-63556818698b phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b36e2504-a07b-43cd-9c02-939da3a68e2a phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:e7cd1c2a-94cb-413b-a31b-581505b8f51e phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:2746307f-545e-48b8-9e75-8cba70afb288 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:95081287-538a-48b7-8a5f-286764223fcf phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9ebd974e-1e20-421b-a1fb-87517743401a phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:1d870954-68ed-4249-a711-78f396449bbd phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:111c56d6-df7e-423d-9fdc-10f83dab214b phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:fb1ff6e1-1b0f-4218-b2fc-386842ffea86 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:9f015703-6709-4de1-b68a-28034e4614c4 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:63622e26-2dbf-4704-92d5-0e0a2e378b92 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:7eea0f5e-38bc-4d4d-ba06-ca08ce3d92d3 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:94213c83-5823-4bf1-a272-7a58cc8f6703 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:517f6ddc-f02d-423f-86a4-4ee1a8cfc483 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:68ad754a-d6a4-490d-8844-47a46ae58f24 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6a3df60a-a2ff-47b3-b9cc-9e1269a69649 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:ea0cc0e3-0bd7-45bf-b147-abb989d7a73f phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:6d2e49dd-6d66-4d82-a6d4-31e04484c9f0 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35979925 uuid:b934651a-b245-4c79-ac7a-8f290974057a phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_disease OMIM:620782 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:44401a05-49ad-4ff7-9c06-2db21be20831 phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:has_gene HGNC:6743 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35979925 uuid:0a58827f-c5f4-4ec0-89b0-6cd07bec2572 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0012204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:19864672 uuid:1cbff78e-6d52-4322-a9d6-925381b3f02c phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0032515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:19864672 uuid:28f59fda-5199-4528-ba27-e9a645b6a0e3 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:875d1be1-1093-4980-804d-bd02b53b2ec6 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0032159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:4a9756d4-b832-43b6-a458-214b2a42421b phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:99282987-34a7-43c8-a376-9b6df81d16c9 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:f083fe8d-48c3-4169-b93b-4e7b7223ad8a phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:5e5dfb84-2e34-4f9c-8304-0229d5c0c264 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:56bc88f9-8488-4a90-9bd7-22b9468aee5d phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0031393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:55e4768c-4f8d-4a73-86d6-0b589880f585 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_phenotype HP:0031392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:3f15be97-42d2-4244-94ea-dbb1ad834770 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_disease OMIM:212050 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:19864672 uuid:0e6e1299-ae6c-4ed6-a0d0-4d76f6acbeb9 phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:has_gene HGNC:16391 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:46f4163f-d16a-47ea-a9ae-26a95dc653d3 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0032515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864672 uuid:7bb167f7-ed1d-459f-a9b7-a559ae119422 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:742904de-48f7-4b4e-974c-0d0fdcfe61f9 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0032159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:e62d0b27-2168-4cd5-bf22-b41f3675d0a0 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:0c47f3b7-75e8-4514-809e-45ee79a5d546 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:2d9edc28-f723-4ac3-b4bb-4b315634503f phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:5065e0ce-a16b-44c5-bcfd-25c8882301c5 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:7595e925-ba59-4da6-afaa-c4410a98e6e1 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0031393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:bf74d2d3-435a-4297-97be-a6aad5b0479f phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_phenotype HP:0031392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:d679325b-b90c-4df1-a11c-7879882efb14 phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_disease OMIM:212050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:6c982e5a-c1e8-4403-938f-7a9d5fed0f5f phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:has_gene HGNC:16391 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:40c17e2c-6018-4312-8bed-f2d85554f656 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0012204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864672 uuid:34df87a9-4e7a-4de6-a25c-3e5a22deb710 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0032259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864672 uuid:f3f21476-90b5-45b9-8323-dad52d725614 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:125c917d-3a38-4690-ab38-6a712b4d671c phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0032159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:63279d43-914a-472c-8861-8521a47ac076 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:a9f1f41f-87fb-4acc-b062-fd3cfbfd90b5 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:c9fd81a3-5d15-44e9-b57c-8f141570c404 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:c2c9629e-60fc-4c62-9ce9-d1dff51cc4f3 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:200ed166-dd06-4144-b35d-2f6d596c51c5 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0031393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:3d57b1ba-cbf4-41d4-a2ff-8b6d416239ab phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_phenotype HP:0031392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:36535cb1-18e2-4069-98fd-84e271a944f4 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_disease OMIM:212050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:661a831d-e952-4a33-b3a0-0bbde267b027 phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:has_gene HGNC:16391 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:f22248c4-8bb0-4755-bab4-a0a0d4b6847f phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864672 uuid:77ed15af-eb24-4511-9afd-44e05d68b8cd phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0032159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:19864672 uuid:4be955bc-27c1-491e-a561-e1f78b47cb40 phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:cf58e5e9-38c6-47fa-b2c2-7037fc7f87d1 phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:c21f9711-9823-40b8-a959-28169c11bc97 phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:670ed8d1-a919-40ae-9601-cf2fdcc8c60a phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:f80eb063-5151-453d-b38d-5afa414b140a phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0031393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:4c17d37e-fbc9-4973-83a6-dbcdd7311c1c phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_phenotype HP:0031392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:defc8f40-c17b-47a0-bb09-2e89865b248c phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_disease OMIM:212050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:e8178b53-9bf5-49b4-ae71-51f7f1b79840 phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:has_gene HGNC:16391 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:e893c074-0004-4f34-9151-fe684d6cde49 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26044242 uuid:e4a0efb8-6f76-48b3-8e0a-15262ee2b1f5 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0032515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26044242 uuid:0a1a8ada-14ce-47da-8080-40feafabdd60 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26044242 uuid:713beaff-2234-41ee-b113-4329fd712df1 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26044242 uuid:5ab9eeba-291d-4879-8bd6-e37804dde322 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26044242 uuid:566f9f91-d6b4-4c6a-b9cf-e17a1b6bd51d phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26044242 uuid:446ab6ec-c41e-42af-a317-a3b8690a952b phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26044242 uuid:c1c6e3a0-6315-4620-b48c-e8fc6aa43cd3 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0032159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26044242 uuid:629a4ee4-3e5e-42e9-8cc5-64d5303d1724 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0031393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26044242 uuid:5dbc7e8d-ec38-469c-a549-d2f93fb4178d phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_phenotype HP:0031392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26044242 uuid:85ea55f0-80c9-4271-9aef-d60f584ebc42 phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_disease OMIM:212050 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26044242 uuid:a0cc6602-5134-4fbe-b4a3-9d734424810d phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:has_gene HGNC:16391 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26044242 uuid:8af31675-11c4-4436-a29e-21742bc62d84 phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:19864672 uuid:c4f97f6d-654a-4b81-8fc6-3e2e0fbdb7d8 phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0032159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:3dc96bdb-9156-47ba-a37a-af5373470fa2 phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:e8365710-49e8-4c9e-a6f6-629aedd66c5d phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:aa3d1412-2a4b-4ee9-b41d-94430402aaff phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:db24dd90-5a77-4aad-87c8-83ff7e2cde16 phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:17a7c7d1-e07f-4779-a325-5770a37f747e phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0031393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:e0cd7e37-6802-4520-96bf-88580ca7dcf7 phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_phenotype HP:0031392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864672 uuid:0f630ee8-6ec1-4642-a412-35a60319b86a phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_disease OMIM:212050 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:19864672 uuid:a51adc46-87d6-41c8-b342-470d462277b8 phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:has_gene HGNC:16391 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864672 uuid:8f92a430-e7a2-4054-bbf5-54319d15947a phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:3d230fee-4f53-42b1-8994-5843a5f8c3c0 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:081f346a-d1f5-4a08-b4c9-01fb615a8ac3 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:68dc5885-6608-4deb-8460-4e83964a8159 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:44177390-0f29-4823-88cd-27e440b75f53 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:f9b1f106-9d34-4033-83c5-6cdc513114d7 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:57dc767b-afe9-4d32-a0e0-1d02d408c37a phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:d3edfca9-3a57-4907-aac5-c56260f8a6e4 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:ae6b743d-6f73-4e5c-a796-a7eae347ad7f phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:b82468bd-871d-4170-a5b9-13743a0a78f0 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:d0e61e6f-de72-420b-9423-51154736838e phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:cbe722c0-3d54-42f1-81a5-9a820ba95d68 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:5da9313f-0943-41f2-a933-7b84cb003094 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0007933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:d8eab577-b398-4f08-9305-d647916df72d phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:2c1b3922-9f5f-4355-ad4e-acf2174396a5 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:5be8fdb7-2169-4f79-8990-c414d38b983e phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:62e8638b-5187-4b73-9d59-35fd1d6ae901 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:6a07692d-20b2-4965-b3c6-2a40d2a5b0ef phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:4a4f4c28-bb3b-4282-82c0-5911553f4db5 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_phenotype HP:0009905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:8fdc0e9e-e69d-40e8-8ff8-833f5a93e5b3 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:37880421 uuid:c8d4de5b-68b1-40cb-93ca-2f32fea87674 phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:ba2ab5e2-e377-424d-a505-7c77a7a8feac phenopacket.store:CASP2.PMID_37880421_Family_4_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:3b140490-b940-4e04-a502-306c1a18f85a phenopacket.store:CASP2.PMID_37880421_Family_4_II_2 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:69c85359-79ee-4fec-b063-9e1b9d877262 phenopacket.store:CASP2.PMID_37880421_Family_4_II_2 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:7d03f60c-e549-453b-a2ed-6e77a36c7eba phenopacket.store:CASP2.PMID_37880421_Family_4_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:8cf22970-535a-4741-9095-0a4a08345683 phenopacket.store:CASP2.PMID_37880421_Family_4_II_1 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:42b4021b-ef6e-4e87-b1a6-4d5e6d99b7c2 phenopacket.store:CASP2.PMID_37880421_Family_4_II_1 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:f192625f-7673-4395-bd7a-3b07f96cde55 phenopacket.store:CASP2.PMID_37880421_Family_3_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:e87d4e94-22e1-47a5-ae4d-8d9d03335bb2 phenopacket.store:CASP2.PMID_37880421_Family_3_II_2 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:a188c34e-308b-49b8-b795-cca6588b87df phenopacket.store:CASP2.PMID_37880421_Family_3_II_2 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:8b3b1595-e051-4572-a69e-2d26afe302c8 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37880421 uuid:ec5cea39-0d32-4ff2-9d2c-1b0a6fd04c1b phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:21a2acc0-ca9b-4bb6-95ef-7a9817321772 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:37880421 uuid:ba655841-91f4-4e52-82ab-a43072f12027 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:37880421 uuid:e69d5b48-dd89-4234-bdbd-f7e1c7860220 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:985ede43-3868-4356-b7f9-c2083ff8279f phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:ea1cecd8-e784-4685-9e1a-e9e721b5731f phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:f21c19d8-aea2-4288-8c9e-76bc88f9feaf phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:f1acb642-71b5-4cd2-becc-e44368d5e272 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:0c073b84-91a3-4964-8606-4538cb4b8926 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:a86808b1-6fa2-4ff6-abe3-9bb24204afa4 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:d91122cb-5952-4e1c-9d12-3f8acbb4282b phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:7f5c58bf-c73a-4b61-a406-4b3b2ee835fe phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:e090649d-9083-4a16-8051-09c70be589ff phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:0d573c06-6c96-4093-be06-d2d8a3f73d87 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:2d8e2693-e5ca-499c-843a-e1b87db26612 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:4f660e70-338d-4459-8e10-c7e8119d52ba phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0007933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:ef0de17c-22c5-446b-80cc-1ea72c92fd71 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:31182b3f-07ff-4313-a54f-f8fb8bf18e8c phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:b29722df-cc70-467b-98db-65140fcf224e phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:a1f603ec-ae11-4aae-bc4c-d3b8ce3616cc phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:8854a9bb-6895-4cda-a7ca-0e4d5070ed14 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:bda6aea0-32a2-40d5-b644-c3dd551114e8 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_phenotype HP:0009905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:52770383-65db-498a-b80c-4f797ef4e951 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:285f20a8-1a08-4916-aeb7-58e05278c480 phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:e9dceb74-8dbf-4cef-866d-80929db5079c phenopacket.store:CASP2.PMID_37880421_Family_3_II1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:ea9f3503-1244-412f-bbeb-623236c3079d phenopacket.store:CASP2.PMID_37880421_Family_3_II1 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:73301ddc-a963-4597-aa34-f28a6f79c9c6 phenopacket.store:CASP2.PMID_37880421_Family_3_II1 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:ed7f24af-a256-4654-a5b9-a391e2d7cf4c phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:cde4965c-4dd3-4e6d-860d-8dbbfaf0d9e4 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y10M infores:phenopacket-store PMID:37880421 uuid:39816bc2-b1a3-4086-8134-8ee0eaea2ebb phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:ad994599-6d79-4941-968b-5ebbf5d88ea9 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:e415b42d-e059-49f1-bb1a-42166cb3178e phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:c3739a34-a81c-49a3-ac36-a3f230fec062 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:bcf84025-8ae8-4175-a60a-8dde211d12e4 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0007933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:7d27f243-27c3-4abe-83ec-353c2967f3aa phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:340c7584-eb70-466d-b80a-42b1d2293772 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:9ef39a67-80e0-4c65-8241-c80ebc1bd063 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:6cf07733-362f-414d-9df7-60bc077008b8 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:c09b6c14-7825-4515-90a3-1aded3c549f3 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:91f64227-c836-4ed4-8fd1-8900a24c462c phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0009905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37880421 uuid:a7be67e6-49d6-4993-949b-11855f9f4cc2 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:65354e73-86a3-41f4-afc1-25c4abea100b phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:c8737348-6ae7-454b-9fa9-f1d230ed347b phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:71908888-3427-4692-8d89-132bd8bec910 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:e12ac832-f287-430d-92c7-ee40e54aad4e phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:d73c10a3-8219-47e6-8e57-ae0f844cc5b9 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:5945f8c8-5564-4639-b98e-ab926332cfec phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:6c4615d3-5f1d-4586-b7ac-a6fefa885626 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37880421 uuid:fca1587b-4f3b-448d-a520-14796140cd51 phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_disease OMIM:620653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:4071d5c4-381c-4dc2-8faa-bc8e0ab2f67b phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:has_gene HGNC:1503 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37880421 uuid:596bdfbf-1539-4f0c-ae19-fbc43dca7149 phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:11805270 uuid:9ce7ca84-9c90-4e95-a474-0bbf37d4cb42 phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:11805270 uuid:61287ad1-1d7d-45b6-a4b1-6eb66be01425 phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:11805270 uuid:b2ce08ac-b4d6-4f36-be2c-dbeb355c8c16 phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:11805270 uuid:bc530e30-83ed-4564-bc4e-1333440c739a phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:11805270 uuid:69195450-3883-41f4-a66d-426a5e7eafd0 phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0025435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:11805270 uuid:47a02e38-70e5-40cd-acd5-94a95a9939dd phenopacket.store:CAV3.PMID_11805270_patient biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11805270 uuid:7b9fc92b-e5bf-4ca0-b3bc-e8200eb85dcb phenopacket.store:CAV3.PMID_11805270_patient biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:11805270 uuid:fa960363-1b10-4ee5-815a-ce5bce85bf97 phenopacket.store:CAV3.PMID_11805270_patient biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11805270 uuid:91ab8c96-8629-4706-85d0-359a30750923 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0009005 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:18930476 uuid:3aaffc89-2623-4dbc-a458-0398f3c8d223 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:18930476 uuid:43e83836-0749-4442-9c3e-6f55e6cf5c23 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:18930476 uuid:3d9f9f44-6c1d-4a6f-8840-f54f884da070 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:18930476 uuid:64bcf007-c0f0-4186-8e10-51c9c103e611 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0003760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:18930476 uuid:87f6e219-ce4e-41cc-9928-fafe018b0692 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:afa71e39-da21-48ba-8b82-abb0e08330e9 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:b9aba66c-8b25-4fca-aaaa-66b8e0aad102 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:18930476 uuid:e40031bd-26b9-494e-b2b6-99791adf6bb7 phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:527f5379-2ece-4726-8a5a-d4c354b95f04 phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:18930476 uuid:4fe77ddf-8f73-47f1-8023-62fdf20c6edd phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:18930476 uuid:c4157168-545f-4c0b-877a-a002df13122d phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:18930476 uuid:dcd13695-fd4e-43b6-8274-47c609cc506f phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:18930476 uuid:c7e8b300-c6b4-470b-9fb1-46cbcb233b1f phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:b5e96c9c-5714-4fae-999f-9a6cfed406a8 phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_phenotype HP:0003760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:500e9d34-2dfc-4782-b95b-67a7e788da80 phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:18930476 uuid:1d40e5ee-abd6-4836-bfd8-3fd95f73f1fc phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:c2fac5ca-b0e5-4b9d-929f-d2fc9f380997 phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:18930476 uuid:6065a212-8da8-4fdf-867d-db50c5dcc46d phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:18930476 uuid:1f4851d1-4492-482a-82f9-8fc6d3c9aa1f phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:18930476 uuid:674ca96e-56cc-46fe-9c2a-4623d0dd8276 phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_phenotype HP:0003760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:18930476 uuid:d75cbefa-eba8-4cc5-ab96-8eb91e0f26bc phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:34fa0941-ddf3-4877-ba6b-840d56aede47 phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:8b35d762-4488-4598-a163-0af1f15a7099 phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:18930476 uuid:9f19353b-3f3d-417a-849b-95708a54b68c phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:874ba6af-c551-4dcb-afb0-c1546d703c01 phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18930476 uuid:a6e53fc5-56fd-4056-9687-55be6273978e phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18930476 uuid:867c91cc-87a2-4ad5-82fd-eedc544ff7c6 phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:d4733c8e-52bd-421f-ad95-6b9d33dbea6d phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:187f67b8-533f-43ff-9456-8bcad5dbb435 phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:f1338614-4fef-4358-879a-43cefa42bbef phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:18930476 uuid:8298a0cb-2349-4433-8580-3ed7c6de434d phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:cffafcb4-8e68-47a6-96e0-092987a7a819 phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_phenotype HP:0030237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:18930476 uuid:83873e08-5b98-409f-ab3b-64c3645b08a3 phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:18930476 uuid:7248c809-921e-4117-859f-75643cd85a7f phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:18930476 uuid:20179d6b-87ca-48fa-a151-c2c95574e447 phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:18930476 uuid:6fdadb3b-1560-45cb-a672-549855b662c9 phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:5ed98e92-c8f8-4735-91da-0463da5c814e phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:cc5d3a77-eceb-4219-8cbc-7236e3aa8a5b phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:18930476 uuid:32153325-3191-4414-8661-9f5047b4601d phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:75d925f6-e9f3-4985-b7ac-38200d80a619 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0009005 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:18930476 uuid:644bb3a2-fafc-4dab-9589-058c01faec36 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:18930476 uuid:6efc90fc-eb85-4140-8fd4-e622714a8504 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:18930476 uuid:a7945d6f-dd93-4c4f-ad6a-d4fd176a9538 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:18930476 uuid:68644de2-3283-4d10-ada6-79fea8d8d591 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:18930476 uuid:cabd2614-6f90-4436-b92b-5c41221de13e phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:40d69ba2-e3a2-4ade-be36-7db00ad549a1 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:f79196ed-f1b2-4209-ad7b-3819ee707f42 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:18930476 uuid:d974a8df-17ce-4182-888b-d278ea207af6 phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:2525c0aa-a508-4392-ba73-c0f08a0ca18a phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0009005 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:e9cbefaf-f7a0-4272-8790-3e281a49dbff phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0031177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:19f5cfb7-028b-4e80-b44d-986afd0627bb phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:a65f23f7-bbc0-493a-b67c-0fc406840b89 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:10fa861f-feea-442b-8082-9c2d83e26bbd phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:5a7fe2b9-d391-441a-a97a-751b5669f110 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:2703edf7-83ca-4437-b8a6-20cd68bd7522 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:a746c14b-07fc-4002-b699-4e0b8fbbf6b2 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18930476 uuid:c838f68f-a6b6-4ab0-a7ac-a7ab47d43677 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:80fc92a3-72e3-47d4-87c5-dcb0bc455e6a phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:13a5cbf7-2b84-4dd7-ad63-d8651703609b phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:06c1e310-7955-41f8-936b-d3b5bf7c28d8 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:b909adfd-2fe9-4a68-8b98-779a3ea8f063 phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:0972423e-fb3e-4a4e-b674-d553e8a1bdad phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:140f8866-2b53-47be-b11a-e65198f6d5bb phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:cd49398c-3575-4b18-9708-d847e8458f0e phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18930476 uuid:3d8155e3-2c34-437b-b3f2-fb2fb8b30b2d phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_disease OMIM:614321 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:18930476 uuid:7de47d3f-838e-4421-a457-aeeece20803c phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:has_gene HGNC:1529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18930476 uuid:b873c9cd-9859-4c0a-b025-aab526898625 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:d09d99c4-2391-4eda-aeb1-abd18d660a6b phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:963fb9a8-6495-441a-b99b-94946655fa14 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0012476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:8606da43-3478-4a6c-b7be-90b5befb7923 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0033199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:fe97ce54-0a6c-4082-9a59-b4da17a3744a phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:26ecb493-e049-43a0-9439-5ecfad135fc2 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:734bbd50-b77f-4a0c-83d5-38975170be2c phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:4f6679c7-f882-40c0-b543-725ca8cb59cd phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:f8571d16-7fe3-427f-8e67-f38338e17850 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:64bb5d5d-2ea1-49e8-b146-7d5b006637a2 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:2c24119e-3c94-40a3-8b5e-1f847296f227 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:c7577583-6310-4ee2-a7a3-369686f52264 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0001025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:2d4de41b-feed-4a0a-a2bc-e13169dc96c6 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:35542267-8da6-4b6a-8ffb-f1ee73337ab3 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:88cadc81-82a4-4816-902b-2699b59da947 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0011839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:da57ff07-2c45-4bcb-a61e-0e0a3c600022 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0010975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:339c07e3-e370-4ee5-8d6a-6c68773b8fa6 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0040089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:7ef392c2-ddbb-445f-ba72-2c839fd0f77e phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0034797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:ebf32597-abd0-48d6-8757-3c6b620f9e03 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:59f357b5-d84d-492e-9e6c-12ccaca6d10c phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_disease OMIM:620430 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36006710 uuid:425c473a-e275-430a-bd73-57a62137fe87 phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:has_gene HGNC:1542 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36006710 uuid:2514f3fe-e676-4c1a-878d-afd09ecb5a56 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0033199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:13ac6c6d-7b6d-4766-b98c-2fc34a7f4c4d phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:5c4cd4e5-3c4e-4457-aef0-64b9f44efce5 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:547f7a2e-8a68-42b6-8807-9f151c555644 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:d44df19f-4860-4239-99ae-76ee9ade5872 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0034797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:f3ff6620-8ef6-429d-9dfd-47e0f4c4e48e phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:4d7cb72e-c689-419a-9d1c-d3f8ddd4f6ab phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:77d00eb1-42f5-4d1e-ad32-5fc13a9bb80b phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:a68581a2-b910-462b-973c-3b9f9f4288c1 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:e7e15865-870b-4d46-ac19-7e38dd97a091 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:3f787587-f75e-45af-b39f-f85cba312d8e phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:fe2e71f1-a356-4dd5-bced-e1002604a7b5 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:cbe24839-8dc1-49bd-8e49-8eb3e057a05c phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0001025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:7f6769c0-f374-414f-90b3-7f4a5648c3a6 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:410b87c3-2328-4dca-a1da-5e81755e35d6 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:a353039d-1c82-45b4-b3c7-eb6ff2ecb108 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0011839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:4e874255-8606-47fa-ac18-3fc69a617876 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0010975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:00f6defb-3927-476e-9b05-e6394cd87280 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_phenotype HP:0040089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:458eff85-e2b7-4976-90be-e1fbc1a6c1ce phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_disease OMIM:620430 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:36006710 uuid:bb4c6d81-ffee-4519-8944-a7d3b65c6d75 phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:has_gene HGNC:1542 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36006710 uuid:a3b8a56d-2101-4067-92bb-2c4239ef3c88 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36006710 uuid:d87b4725-6098-4efd-980e-171c4711ce7a phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36006710 uuid:c5714c07-f711-49ec-b551-cd8286a57207 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36006710 uuid:6cf692ce-e8b3-4f92-bdc7-d7fcd451c4d9 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:c4c13a52-0e30-4e8f-84ac-bf43ab24577c phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:8e06b006-1ebf-4dc8-8aa5-5ef73be93f8c phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:14b8e120-08e2-4016-a835-393ffedb666f phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:d719780a-1608-4f1c-a079-6db6c1b32c59 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0012476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:6a402f65-6289-4c1c-b422-6456d003a275 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0033199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:e4a6162a-89fd-4687-8f7b-50f0588fff14 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:5c4e4a8a-c665-45cd-a244-6ac584dacfb4 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0001025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:921fe5d3-54c6-4887-ba73-e054f806be93 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:5a8b4021-7480-4b0e-9af9-f57ef5305174 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36006710 uuid:6dc28bea-4c55-4403-97db-3a77a12b3d61 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:5df73ff5-3035-4b5e-b5b4-b39fcf5508ab phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0011839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:4136f261-d1d1-46f5-b595-7d360c387986 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0010975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:b3bf8cfe-21f9-4837-ad38-c659795e386d phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0040089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:f0ecf5e9-00a3-4644-8651-712138df1928 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0034797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:45581e70-0a0c-4755-8fbb-7a4debce5df1 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36006710 uuid:a01ae1fe-6189-44e5-b485-6c2b53afeed8 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_disease OMIM:620430 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36006710 uuid:c9a0fb2b-caa1-4f1c-bd4e-695116f42ed4 phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:has_gene HGNC:1542 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36006710 uuid:1bd1af51-6f64-4564-b6ee-d31a11bef9e3 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:8cad8d62-419f-442e-ad8f-4029be7005d4 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:dd3e4b1d-338c-4d62-b532-987e360ef5cb phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:b8f10f29-6591-48c9-9b2d-a72a06aded8c phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:4d62eff1-6664-458b-b7bd-a51a465fef9b phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:3494b536-25a7-4c5f-a8b7-c71412034531 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:53115f9c-dbd1-4ba9-a898-e8dbf8580e4d phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:fc13ba96-3d76-40b7-9f8a-aa2ee3f7f034 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:185e7ce9-b2ff-4521-b6bd-0cb368415127 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0031284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:a202b0ab-2716-4dc8-af5d-e25aeb72cec9 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:396bf15a-a143-4ff6-909c-d37290e0c01d phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0003235 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:6ef3a182-7471-40ce-9a5b-9fe6b7eb05a9 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:f4a121d5-456c-4fe8-8a44-f150da8e1b4b phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:56472c84-c5bc-4735-b9f6-fda42d8afa8f phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:438dac97-8fc8-416c-87d9-f55c010fb5e1 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26667307 uuid:6ff08499-e9c7-43ea-a22d-4e4a3242120a phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_disease OMIM:236200 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:26667307 uuid:be35ce08-db96-4581-b88d-1fa38ece8865 phenopacket.store:CBS.PMID_26667307_III_4 biolink:has_gene HGNC:1550 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26667307 uuid:4c0defd3-3d1a-4a80-8601-5de14568e34c phenopacket.store:CBS.PMID_8755636_patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:8755636 uuid:592212f9-b8e2-48c3-ae45-2f76a47f3533 phenopacket.store:CBS.PMID_8755636_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:8755636 uuid:90cc3f95-1be2-4f18-a7f7-29a25ef77ee7 phenopacket.store:CBS.PMID_8755636_patient biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:8755636 uuid:eb7f7182-6138-4b20-ba0a-9cfbc33bb165 phenopacket.store:CBS.PMID_8755636_patient biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8755636 uuid:cb686791-2467-4682-911e-e156105cc019 phenopacket.store:CBS.PMID_8755636_patient biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8755636 uuid:3d40847c-6551-4698-9039-251bac2431c1 phenopacket.store:CBS.PMID_8755636_patient biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8755636 uuid:ccab1653-9f76-408c-adf8-bae8faabdd1a phenopacket.store:CBS.PMID_8755636_patient biolink:has_disease OMIM:236200 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:8755636 uuid:e8782939-892e-469b-949d-4cc9db177818 phenopacket.store:CBS.PMID_8755636_patient biolink:has_gene HGNC:1550 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8755636 uuid:9c111618-4a50-4784-bcd7-4556fd10fc75 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:9f5f8598-17fb-459c-a727-65e2f0235ff5 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:c038b11b-b3ed-44f6-baef-a462681ec5af phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:24110ca0-3018-4783-a649-624ef6231921 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:d86e3de4-0d2e-4acd-a372-b2b9938682b5 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:cd35d07a-7bea-4b72-a05b-692632b764f4 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:d447f450-0e49-46aa-94bf-182176ad6cf0 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0031284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:e3545d11-903a-4bb9-8ada-e2fb8a49a09f phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:da910e80-ada1-4bbb-9cff-d53b251e2da1 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0003235 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:b1eca7da-3cd2-4d7e-b5ad-f63dc78ca104 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:53527f5f-7a95-490e-8dc8-6da319c87863 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:9a9eba15-ffdf-4b6c-83ee-e89fa01af5b5 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:6411245e-a2c5-4298-a955-d85518dc996d phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:f275a75d-8c46-4f4b-bc8a-bba4570953e0 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26667307 uuid:f64f3522-caa2-4989-a720-a44cf678dd54 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26667307 uuid:7388743b-54d7-4a23-b9d0-6d9e817176ed phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_disease OMIM:236200 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:26667307 uuid:6f2b6378-6290-426b-972c-95c702a690f5 phenopacket.store:CBS.PMID_26667307_III_2 biolink:has_gene HGNC:1550 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26667307 uuid:65061a01-7d94-4a00-9b62-6435fcd9dc4f phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:bd8ff5a4-3833-412e-91fc-41d2019caef8 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:5977f9fe-3fe3-494d-9d9c-b1328b02423d phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:263d2573-223e-4caa-acda-a357232242fd phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:b301e86a-0063-4f7e-9885-3cbba4cf3a66 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:cbd7db0b-44ce-4797-83e1-6fd648990f89 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:0c18eade-c427-47bc-81ce-2f1bfee92d0a phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0031284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:3f4541d9-6760-4fbe-9ba1-27f1c4be22d5 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:962ad5d7-304a-4b68-ab91-97690096bb63 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0003235 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:0a6cee4b-b127-4afa-a4bf-10106d063a01 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:2a252597-54a6-4bb2-834d-af8ae0758778 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:c442e023-c6de-4b2a-a156-b7473608c0ca phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26667307 uuid:87a7ee9d-ba72-4a82-81e0-5ca8fa79fb57 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26667307 uuid:c9639df6-038f-402e-b296-234534658c7e phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26667307 uuid:9e9927f9-6972-4e8a-b5db-e881a8e79168 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26667307 uuid:e4ed8348-5bda-47e5-af90-67d42d181018 phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_disease OMIM:236200 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:26667307 uuid:172db166-ac01-49ca-9d6f-948281690aba phenopacket.store:CBS.PMID_26667307_III_3 biolink:has_gene HGNC:1550 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26667307 uuid:fb631411-9254-43d2-a616-defef341eb4f phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:6a4e5b13-ee84-4a67-a8b5-ec026a887612 phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:965c2395-cc1d-4387-8073-935f2b2165c3 phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:c339f3a2-b55b-4dc8-bbea-820d641db0ea phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0032559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:aa520dc9-c369-4a68-97b3-126267e92138 phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:feb25347-3849-43a6-b5a2-bdafe84b0936 phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0032558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:f01d93f1-504e-4f7e-8265-8f3e239bb7b7 phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0034309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:db779637-bc8e-4fcf-a2cc-f9998aef6c72 phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441556 uuid:b083f1ed-e7dc-462d-9728-43faf1268cdd phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_disease OMIM:620850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38441556 uuid:7b6b22ec-3712-4f69-8ffd-1356fd8c898f phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:has_gene HGNC:29296 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441556 uuid:5fde33ac-499b-4526-993f-7ca5fa6ac7bf phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:b582f569-fcd7-4e49-8621-0b0b1b111564 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:a4eb5597-93a3-4ad3-bbbb-a1a239d197fd phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:31d3895e-7d6f-4bba-8bcc-32d74a378de5 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0032559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:dfcc59e0-c024-46ac-aa71-0456538d1577 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:33f9717c-857b-4a75-a560-6dc5fe82e159 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0032558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:530b59c2-8674-46b4-b604-ff4cf27eb628 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0034309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441556 uuid:4b7ff99c-2b3d-4eb6-b3ad-422b121128e5 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441556 uuid:41c8217a-8a23-4182-9619-3613320175f2 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_disease OMIM:620850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38441556 uuid:433464ae-9e11-4a25-8a75-6f122acae0e8 phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:has_gene HGNC:29296 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441556 uuid:bd9f3e3c-b37f-4427-9385-f961ab630e88 phenopacket.store:CCIN.PMID_31985809_GL_12 biolink:has_phenotype HP:0012205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31985809 uuid:6c92973f-d4f4-4186-b4c4-6c1af100b40b phenopacket.store:CCIN.PMID_31985809_GL_12 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31985809 uuid:d25bf140-a809-49b6-8b7d-c29fd5b19e51 phenopacket.store:CCIN.PMID_31985809_GL_12 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31985809 uuid:e48c4274-9b85-48af-bbd5-aac52c87ba66 phenopacket.store:CCIN.PMID_31985809_GL_12 biolink:has_disease OMIM:620838 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31985809 uuid:e4f6eabe-7840-492e-a6ec-075b7a2ad425 phenopacket.store:CCIN.PMID_31985809_GL_12 biolink:has_gene HGNC:1568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31985809 uuid:41f5556d-e920-4476-b3a7-c6c984ebafb1 phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_phenotype HP:0012205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:e3061311-3b3d-4ad0-bc16-b67e86aaee0c phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:32b21444-0cb2-43b2-b502-56bbba7e53d7 phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_phenotype HP:0033393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:c10026d6-1b9c-4cb2-8998-cfcf706ccb9f phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:e2278a80-9a71-4076-a38f-e5b1192d733e phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:3a571ee3-97b2-4d53-9d3f-c39c1faa5618 phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:02b67193-75e1-4ac7-bf49-7d5d783c72ac phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_disease OMIM:620838 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36546111 uuid:0bae4cc2-54c0-4e22-8d1a-9113d40ca97b phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:has_gene HGNC:1568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36546111 uuid:f88c9760-1193-41d7-b325-edb97400c883 phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_phenotype HP:0012205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:b93eb6d7-9308-4aef-b759-0130eb1769f6 phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:66474a5e-ef61-4114-a3da-49861748b1fc phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:6b02b882-0fe5-4d73-8014-082f62c908ca phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:231e22be-dae1-43d9-b42f-b1083fc9cd70 phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_phenotype HP:0033393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:049941f5-b6c6-4314-b140-30cda22ac8de phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:b7c2c5f0-fdee-44a7-969f-240b05b7cf9f phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_disease OMIM:620838 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36546111 uuid:db8726d1-fb56-4ff8-8f57-5583a7aaa2bc phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:has_gene HGNC:1568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36546111 uuid:9832cb78-d090-48fe-9453-80c0454b94fd phenopacket.store:CCIN.PMID_36546111_nan biolink:has_phenotype HP:0012205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:83b72198-612c-4820-87af-a53bfc59aa6d phenopacket.store:CCIN.PMID_36546111_nan biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:6fa8852b-9209-4805-8d6b-76bc4c93aeca phenopacket.store:CCIN.PMID_36546111_nan biolink:has_phenotype HP:0033393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36546111 uuid:d9def24d-7986-4e47-9932-01bd7c543600 phenopacket.store:CCIN.PMID_36546111_nan biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:f0413556-f09c-47f4-8d94-19451a103db5 phenopacket.store:CCIN.PMID_36546111_nan biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:ab8c49c5-5608-4762-9bc8-4c8ae0ce943c phenopacket.store:CCIN.PMID_36546111_nan biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36546111 uuid:c11b3b3a-60a5-4c5b-ab85-4d32d5f7083d phenopacket.store:CCIN.PMID_36546111_nan biolink:has_disease OMIM:620838 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36546111 uuid:84ced635-2632-4b56-89d5-7259bdd85fa2 phenopacket.store:CCIN.PMID_36546111_nan biolink:has_gene HGNC:1568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36546111 uuid:5117a921-922f-484f-9ba8-36ba0c78dadc phenopacket.store:CCIN.PMID_36527329_nan biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36527329 uuid:7c2ffa95-3d63-45bf-86ca-fa33b05c1be5 phenopacket.store:CCIN.PMID_36527329_nan biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36527329 uuid:1690526c-7746-45bb-9d7a-db70cb764bf4 phenopacket.store:CCIN.PMID_36527329_nan biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36527329 uuid:321a28e3-2070-444a-bab8-2e040c332e98 phenopacket.store:CCIN.PMID_36527329_nan biolink:has_disease OMIM:620838 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36527329 uuid:e576b8f1-ce77-4bff-b0fd-3a93d38b167a phenopacket.store:CCIN.PMID_36527329_nan biolink:has_gene HGNC:1568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36527329 uuid:9d48d63b-785d-4448-a4fb-2c70b83f7108 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:016fd406-20d8-45e1-a9ff-814b390e099e phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:5f9b6167-e4e0-4550-ae9d-46d45b379645 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:b19fcf42-a7c8-4baa-a82c-fff8c72e489d phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:b2c491a4-e895-4808-8342-3ffc4efb94cd phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0003762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:6787a4a7-b586-4a55-a909-6d515adcf5c7 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:86317265-3a51-48a9-bb63-b8d2111c986e phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:716e3ef4-432d-4a6a-922f-234a3c29a354 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:aa0a84f2-f298-4d10-9d3e-338d01d563b5 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:da12217e-fe97-477f-a296-4e5ec033996d phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:fa52e157-92d0-40bc-9893-37bdaa260be6 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:35def789-cd4a-4ce7-9fcf-9b62cc049d8a phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0005343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:f589be2c-09d9-4307-b9cc-2f0b7dd33330 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:ae640ee7-edaf-414e-bc0f-6dcaec80cc6e phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:bc85c6dc-aaae-4d84-95fb-a404dbf8b208 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:ab653327-56f1-4213-8736-3304dc2ead89 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:1b4a2d5b-9642-4812-b887-b9a5ebd12716 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:e2c54493-4bb4-410a-b9e6-b85fa747fb68 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:5fbd983a-8d75-439a-856b-40763eadf8e1 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:d02f2043-b4a6-4801-a306-9d7f1afb8055 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0004969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:5e474b25-81a1-48e5-a6b0-13e3f4dffb03 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0034350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:1f238cb4-f170-458f-8e97-787b6e87798b phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:a6b82edb-d9c1-4a55-8fe2-6dc578fcded8 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:114520bc-8f3a-484d-a38a-4ee52ae216a3 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:fe3a317e-4fc3-4f53-906f-12f4cdd1c57b phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:6d533f24-a61c-49f3-bb1d-d2db41570244 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:c9bc6da2-76df-4c2c-8bbf-e06a39a8fab3 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:ea3b4ba7-6978-444a-a652-c3dd86e71c08 phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_disease OMIM:300707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:b93a6923-4c88-4617-afbf-c8ca7727654a phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:has_gene HGNC:28434 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:ce9e4103-9cc1-439a-a68d-cd240ed6509a phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:98fae16d-6d8c-4b3f-b247-bceacf0a9d35 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:e04405a9-35c6-49b7-b297-f0f2acde9992 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:00d6d80f-e375-4d45-b380-3d071f44b672 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:f3b68b57-0a51-4d31-abc9-f83b0589105d phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:58a31090-dcb9-4ca1-8293-e1d94db1b814 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:30b6cf73-c503-48cb-9e0a-2b6c8d1f335e phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:93646cf4-6ede-4aeb-8388-09db1dead79d phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:c0cf0427-cec0-4b9e-ae46-6a8ebe278e58 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:fda11bdf-0835-407d-9f82-90dd07af516f phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:7b88b8f6-3dc6-4df7-b2ff-2e4f866aa8c9 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:9eb91853-d40a-4d1c-85c2-0960dfb8eb60 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:32c95489-6152-460f-ba5a-6fb55148a3bd phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0005343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:101691e0-6c1f-4c9a-bfa9-26cd059a8b1c phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:dc8073fa-22ec-4a31-a8ea-3a91486ce209 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:51411bbb-e01c-4eb3-bd14-3495823bb5c0 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:532a17eb-d3d0-471c-b1cd-557d66eef0ef phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:8c577b4d-be16-46c2-baf7-f107d9c81ff6 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:ec741ba6-eba0-412c-831a-fa8fe61e0da2 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0003762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:d92245ad-9d35-4752-b905-a8569f4fce1c phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:8e401fbb-3071-4934-b734-c4c7efbd2581 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0004969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:2a258f90-df85-42b3-a7fe-9299ca231f5c phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0034350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:e44ff077-94d8-40f7-a92f-adff2e1b7242 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:cf8ad2a2-af89-439a-b60a-b82d7476b7c6 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:b7cedaec-c6b5-4116-b8c3-1bbc26a25eb8 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:693fa26e-00fd-4bf2-a67d-91eb3cadcaa6 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:efdb0da5-06e4-4262-844a-427ba381a0ee phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:80cef78c-dc7c-41ea-936a-e560c29d8977 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:9ccf531c-905c-436f-a664-7b9b13423283 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_disease OMIM:300707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:16e83913-8b75-40b8-8b94-3919b9298cf4 phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:has_gene HGNC:28434 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:f90fff16-a8a7-4042-8c2e-d110003fb363 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:28aa3468-0d4c-4b36-9288-1fb23a1859f1 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:0367469b-431d-45e4-91dc-d0af5e532b1a phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:cdac8671-1bee-425d-a6b1-0e8b0a130dfb phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:a688b6ab-5494-4ba7-81e6-e2c9a8f5217f phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0003762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:8c1f4ed1-4aa8-4696-bc5f-07a78ad0feaa phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:0c472e92-9f77-434f-b1f3-d076d8353788 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:3856608a-1e59-4b30-9ede-6617e27422a8 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:39d25d37-0c3b-4cfd-9df1-224d342615e2 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0034350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:6e558075-97c5-4c13-af59-8cb82b708ea9 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:d7a4b66d-d28a-4546-b033-138ef8420196 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:63aad8e0-45ad-4927-b2b5-a0f22c519ef7 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:3e3cdd1d-78a8-4692-b73e-61f1b9728bf6 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:1e1eed6f-6220-4a0e-a9a3-b006304cd82f phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:194267cb-1c96-471f-adc5-51ce6e791712 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:100bd723-6f2e-4cc4-95e1-2a71906280c4 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0005343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:eecf7a86-3c97-4cc8-a52a-2a113fb7e1d8 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:d6579160-4d82-4979-8564-b5892e524491 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:12bbef13-e787-4ca8-a083-70162dbb7e78 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:b93089d4-814a-4492-84af-891f7b2fddfa phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:150bc029-d424-4085-960f-c9540f20f954 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:6bfe0e82-d2cd-4b73-a31d-b05c3fd6c7b6 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:d2013f53-6434-4b10-ae22-8b1689ac792c phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0004969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:db1dca0a-ebcb-49a7-a0cb-ac9c51f6044e phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:dfaaa4d6-9b96-4833-aa34-48ff134453d4 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:c14c29d8-f30a-445f-921b-6fd0c8d3ff8c phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:fdc3fd32-7367-4dd5-97f9-0271e0c1f3f7 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:02057e80-f03a-4eda-abe8-a0f1c68d3c54 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_disease OMIM:300707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:8cb41e0b-d3f1-4f1a-a605-f596842f7348 phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:has_gene HGNC:28434 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:e442312f-fe76-4f69-a919-a1b470ca49f7 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:fbaefc40-5d99-4c1f-be5c-c486fe09d0f9 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:cdf2953e-e0ec-4777-b966-440a12f3f018 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:fb792556-bc79-4d9e-abc4-7db787b34f3d phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:fc713ebe-fc03-4acd-af56-eac71ca67b9e phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:834163b2-d07c-4cd0-874c-6f6d39984fbf phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:43705cf1-790c-4d35-bcd3-6ec3fe15a96c phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:53f25c2d-0918-4f37-a14d-5c6e9779d794 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:2ae61c0b-b37c-4a69-985b-2e7ac7b7b0f7 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:f95abf51-e771-4563-8310-b1daeb20b5ff phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:b36738a5-8496-48b7-8e29-048e16dfb709 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:c81099bd-ac59-42ae-b42f-3591de6dd55d phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:87dbd32b-0b33-4c63-811f-b35a5dc60866 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:45a7a7bd-e0ac-44c3-86f7-16bb43fc00fb phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0005343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:3497e8ea-f97e-4a94-b7a5-220e98b662e0 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:efa19343-5097-4a37-9691-eca002fc8c24 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:66d49562-7323-4b86-b1a3-5d02365ee832 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:75a67193-c7b5-4a53-91de-916b035d275c phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:d12859ed-7663-45e6-903d-c1ef27b466a3 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0003762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:99908d33-03f5-4cff-9dcf-f1249dc5855b phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0004969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:f9924869-6841-4c7a-868e-d3619e59a3bf phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0034350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:81dc8303-d158-4d32-869b-af772e692fa5 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:9b888881-aec1-46d5-aac9-72bae18012ad phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:408f136c-503e-4699-b3c2-7a3337cf1243 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0000394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:a8c303b9-df81-4874-9a71-2ba19132e655 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:5bf545ab-7596-4c5f-94fe-b98fc5b07681 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:0590a36b-acd4-4a62-9e03-0fe8c980c9a2 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:933c8e26-4461-4f94-89e3-eeace6e521ed phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_disease OMIM:300707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:846ebed1-c0df-4409-bd06-30e46e8933b7 phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:has_gene HGNC:28434 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:dd655d51-4dcf-4de7-91f9-e6741865a9f7 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:651a7985-d8ee-4479-b83f-e04c623a501a phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:3a970bde-ac52-4585-a10f-f61f416b89ba phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:342f4764-5435-42f2-910c-0dc5852fe1d9 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:29f1c1f7-4980-4946-b9c1-f90db667b624 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:19e74bcd-4684-459c-94f5-93f10dfe8cb4 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:9caf5e27-37b8-4aea-ab50-947faad5ecbc phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:e28483dc-3ee1-4462-9a54-1579395f7b55 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:b26187ed-b63e-480c-9599-9031f2bc8e6f phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:0982ade7-3671-41a9-b566-37e2b96250ed phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0004969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:793b4486-0291-42e4-9bdf-dd37288a5fcc phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:bbee37d9-65db-4792-a8c4-cd505cadca48 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:e7247cb8-5822-467d-beb4-0540d7ef847c phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:9420f599-a316-4894-9df3-faa9010b1911 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:3cca64cb-7f95-46f1-a521-d1b60d4aad98 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:e799fba8-cbef-462b-8cbe-351f44b876e5 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0005343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:cc4d55f6-a4e7-450a-8545-4026367847ae phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:eedcfa5a-70b4-46fe-b48d-df76121e8e70 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:5e6774c3-6339-4007-9ed0-fad7026d9899 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:8f7a7a31-873f-4de8-a256-9392bac34856 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:bc5d13d7-c488-420a-ba2e-a913e0ce3135 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:723a50b2-459d-4c4b-873e-c83c7574b8cc phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0003762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:7d8ec45b-e1fc-4011-aba3-f4076ec19a9e phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0034350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:98d2e514-543d-4aa1-98a1-aa302eb22f6b phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:101c5c39-934b-4c77-896b-2087ffe784e2 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:3979b7be-a2fd-410e-a7b1-b3b7cba5e331 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:e04cf021-d763-4fbc-88a5-6fa27b35a537 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:f6721814-d200-4519-916e-055ffa50cdf2 phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_disease OMIM:300707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:db69010d-90b5-4011-a784-1f7b6b39041c phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:has_gene HGNC:28434 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:a2704374-0b4c-47dd-88f6-4e23539d2fa7 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:52052767-6db9-47be-849d-21d8322661d6 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0005343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:0db78da9-8cf3-4662-b439-4fd784adec05 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:fc47dc85-dda4-44a7-b45b-a53906deec2f phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:81cec3a5-3840-4c49-98b3-6d788ebaf442 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:f775ebe5-34e2-4bbb-9145-3c9f495c6b09 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:55b15b4e-84d4-4a14-92e4-6ba7e6279e25 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:e9f6bb6b-e7c8-43be-ae6a-553a72db1645 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:2072f2d3-61dd-40a9-8377-138ca5d36624 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18297069 uuid:8ab3a1e6-fc4f-4e54-89a6-9aaf38af350d phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:9bdf1a56-ec30-4a6b-80b2-66b1cbd61fcc phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:1e4514b8-b4bb-44dd-9fa4-c5148a6f0222 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:b9c6e4ae-06ee-4e0a-ad36-e1454a1a203a phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:1b176ee9-9dca-4f10-a6f1-178618962b5c phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:58c42181-ccc5-4922-80f0-d71889143d12 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:c181eec9-2561-4d99-af7b-9878c6279429 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:172e7b21-4f40-4e36-b66d-29d9c43fd043 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:7a7e7ee9-0f2f-4115-9600-9295b290b672 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0003762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:8f0ea19a-fa65-4c7d-882a-5264096d6385 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0004969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:bcae1e40-6113-4cc6-86ea-1010b031a519 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0034350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:ca3dd3c1-3b05-4bc6-aa70-10f1d9000e57 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:bb63d46a-c590-4187-ba09-2222662ff582 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:0329f52b-cdbd-429b-ab15-f3f185d6648a phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:26a9749a-c543-4c99-9097-d504a533ac17 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:cf437e87-598a-4d22-8788-4d511b3025b1 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0031624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:6276856d-110d-46c1-b900-35a0bd35f13d phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:7f7e4bb3-1d64-43f2-b60c-c205de29cc3d phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18297069 uuid:0c1cffe2-130d-421c-bfc0-99dfc4824cf3 phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_disease OMIM:300707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:6bd744f7-b6de-4860-bc8d-2000f524250a phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:has_gene HGNC:28434 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18297069 uuid:0cf302a7-86fc-4828-bcfb-d7aa0b3278c1 phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:99323488-cf15-4384-a148-5645b01d5ddb phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0020072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:7686ddba-e20e-4496-b0a0-e3ff77db698b phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0033510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:c9f34073-afe1-45ea-8570-7d7c05554e9f phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:cc77d3a7-246f-4731-a92e-df70bc8cdc12 phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0032215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:90447d58-aaa1-4cc9-a100-596cbd1defee phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:8be4ba50-914c-4735-9f89-21af67135a7a phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0032301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:d82bc86e-1ab3-42b0-9f24-d6633304738f phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_phenotype HP:0550004 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:2ca662e5-8e6e-47d9-aa2b-bbb2954b4466 phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_disease OMIM:620901 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:34214472 uuid:ff86fb27-0c1e-4019-9b11-51152f47d12a phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:has_gene HGNC:1653 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34214472 uuid:7cb68465-c3fb-4fac-b949-3716eee4bbfe phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0033510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:96636cdb-2965-4fd3-a00e-eba202274126 phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0032215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:45760d6c-7d4a-4412-8aff-e51d7ef1b1ab phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0032247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:d93b84ab-18d7-4ec1-bac2-c3217f9316b4 phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0020072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:cdbd6dba-44a8-450c-8d02-a65e79587194 phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:52e26f5e-39a2-44cc-9bdd-6b771854a1b5 phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:ed6c128a-8749-4105-8a44-a183c78dda55 phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0032301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:d30329fa-8d09-4643-beba-d20da15e597e phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_phenotype HP:0550004 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:52d68675-fc5b-4978-b0d1-f6e6f6fab4dd phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_disease OMIM:620901 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:34214472 uuid:83b40c55-5467-41d2-8b18-70f219c1667c phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:has_gene HGNC:1653 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34214472 uuid:f49b6b78-db62-464f-8367-721b2471cdcb phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:6dc75a86-dd19-4ba7-91c3-18697bde5b2a phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:57befc9d-cf86-46c9-b23f-c6cfebc180dd phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0032247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:0a9e4766-a4f8-4c93-b60c-6062df173449 phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0020072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34214472 uuid:5dbfb3db-5573-4650-ba69-8d55dcccc6a6 phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0033510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:20a4431b-2360-4cbe-9173-aa6090fa08ad phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0032215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:cf2c697f-1b41-412c-8f12-bd791defe94e phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:2507a1f6-b549-45fa-be44-5252f83c4b13 phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0032301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:e227eb75-ef04-49ef-86eb-6433e9adbaf7 phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_phenotype HP:0550004 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34214472 uuid:5d658563-bed3-4b82-9786-4caa91e14e44 phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_disease OMIM:620901 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:34214472 uuid:4ad68975-440d-43fa-8ea1-26063a5dbac6 phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:has_gene HGNC:1653 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34214472 uuid:f1922a68-e463-4bcb-8cf8-ed00e37e76df phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28061825 uuid:ebcf101f-f59a-4090-ac07-eb2af28ebea0 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:28061825 uuid:6b901f84-85ca-4c15-b53e-17fda2430d42 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0011509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:28061825 uuid:ed6e7eb5-c284-488e-b6ee-492b35c96801 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28061825 uuid:0cde01e4-2330-4ffe-a966-6022713692c5 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0003777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28061825 uuid:b8ec3811-7c3c-4237-9c2d-13571469d2b2 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0007502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28061825 uuid:4457bba2-a735-49ac-a177-90eef01563e8 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0200040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28061825 uuid:34dc08aa-5eb1-4170-812d-c2ecd09db48c phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0410400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28061825 uuid:9aee1b23-af03-4079-bb18-4e2b67dadc14 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28061825 uuid:b2a1fb9a-fabd-4638-bf3d-85c6be754911 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0006482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28061825 uuid:82c13605-5117-4583-a039-bd2a0fa12c07 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0001155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28061825 uuid:d6616901-2b99-4346-8720-62958d8eb72b phenopacket.store:CDH3.PMID_28061825_proband biolink:has_phenotype HP:0001760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28061825 uuid:cfa28f31-2671-41c5-8783-e8b0762f57a3 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_disease OMIM:601553 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28061825 uuid:13dcdc07-ba9a-4518-ac8c-9a80a1d25288 phenopacket.store:CDH3.PMID_28061825_proband biolink:has_gene HGNC:1762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28061825 uuid:e8c12600-2c44-4b7a-90a1-b7f2cc6917a4 phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12445216 uuid:973461b3-f0ad-4ef4-91ca-96ac9db99654 phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:12445216 uuid:cd612e1d-8975-44e1-abdc-9d52e4d28193 phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12445216 uuid:7c5c8d9a-427a-49a5-b19c-6baeec384fe2 phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:has_phenotype HP:0003777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12445216 uuid:d9471f05-c674-4df7-b975-a35851a55749 phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:has_disease OMIM:601553 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12445216 uuid:eb9290d4-14f2-4c18-853e-00f5c2acefed phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:has_gene HGNC:1762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12445216 uuid:8c222043-e83c-43b3-9ba9-4d553a87cba5 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f3113fa7-bbeb-4ab3-98d3-46e4dce12824 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:af05df98-4672-4ed5-ab2b-2d80705d3a83 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:29fdc803-af54-4dc8-a911-6f61247eefb3 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:5f10b3e1-c4df-4d53-9b6b-61314cedc09f phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:61eabf7d-071d-4dce-b947-04f36f014599 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7816c2e2-adee-4d51-80df-26b061897227 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:e859406c-e6ff-40b9-97d1-833a272731b7 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:ecd9c029-5b8d-4e51-87cd-4fe56c634674 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:309e97df-1f9d-4083-9262-b5fd14d816c2 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:fb5b7d84-2b41-4608-b56e-bee1402161ef phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:5506e6ba-d10e-4933-94e4-f2cc71f8adac phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:17cf8d9e-4da4-4902-8571-d9d69fa7d5ef phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:6e5d945a-c537-4357-a7ac-863f79d62e61 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:4b50ef19-8f37-446b-be88-7b55d608ae8a phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:bd9672c5-e90f-489a-bcdb-786f75a40bdd phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:4ea2a763-825e-4f10-93c7-0fff85615eeb phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a717e59a-a0d4-4842-b779-844c4a0d074d phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a52cf116-2383-405d-885d-ea0da2e79e28 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7f2c6b04-8b43-4bc0-bf8d-60de2b763149 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7e638d0d-3178-420d-ae8d-6f152717a5b1 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:6ced69f3-62f9-4fb8-813d-501fa7f3d3ff phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:380acc16-89ed-44fe-afbc-c3dd5549f6f2 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:065a10fd-71e9-4452-a455-354c8c5dbc99 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:986ae1ef-2937-4ada-94d8-b0c18084a518 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c05e8ae7-2353-4a57-aede-1adbbf95dee5 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:cc8585b5-2d21-468f-bdb4-56e6ab198fd0 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:6b254bf3-b017-421a-afb1-840a82040351 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:05d3aa23-4e83-4e2b-87f1-8379d6e46849 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:9f27bf7b-c3df-437f-8244-657943401eb8 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:036d4d9b-7e35-471d-98e0-a58e865d1229 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:da6fe8b8-8fa7-42d5-badd-bfc2408d3838 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:461de5ee-2112-4c5b-afe7-e1473cfa8f99 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c13f3855-5585-4656-aba9-cbfdea678d33 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d8c6b0cd-dcc3-4f3c-b793-788e73287845 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:834e37a0-2aeb-4dd9-8e14-59d0d2b64657 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7165f0e9-3b6c-4a1c-abeb-aca653a9f5dd phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:966f24f9-0680-4b66-b507-c4b88d4327e2 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c7462bf8-99af-4e33-8674-625b8f72361f phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:ae6c23aa-9dab-4a88-bcd3-836ac620884d phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:fde97bac-0125-4eda-91b9-88315cc6cffd phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3d15c5cc-9441-4b29-ae18-452b0ac9eda7 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5526a459-ef15-4d0e-a5f1-d59663f79a42 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:43f44932-ff7f-49de-a069-13b7cc434d19 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:527f2ada-a5b9-47d3-b5fe-24266e1673bc phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5b0f1127-848d-47a1-ae03-db1bc9414108 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:8cadc8f4-59f6-4045-b62e-bfa0d4cfeace phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:00842ca8-4c8d-4bf9-9cc3-f1c88648b83d phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:eb8bc860-05a9-416f-9c72-4a7509969a81 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:56e69f88-7874-4a2c-a4c9-177f5c614aeb phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:861b72ae-e446-41f3-aa24-09bb07ac9b91 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:557c2e99-c755-495c-9d75-275a8689d452 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:0298fe20-63b5-427a-9f93-f5b2af478425 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:119e44ff-2da3-4639-99dd-aed4517961fe phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:78a78a66-066d-47ff-ae75-2a806dd56eb1 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:72f821b4-b001-45c2-9170-0fe012e6c2b2 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:3868f859-6739-4ee9-b6ed-8149ee642d21 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:436a6178-5ca3-4d21-8983-413ca98ac76f phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:ddc13aa4-2634-4938-afc1-17bd8ded174e phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:42bb7f2f-be1b-45fd-9696-a7d684314e78 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:5bb95d9c-2955-4aad-b17b-fa5616a40c64 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:bc29d12a-d835-435b-ad96-dc9262b85dd9 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:53b3eff5-de5d-401d-925b-a80dd8fae268 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a85d0d17-8f3b-4861-9f37-0501644655ba phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a42c0567-24fa-4ef0-a375-92f50136bb28 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a3a995a7-11b1-4e00-b11e-91e1873b6fda phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:282ff153-ff13-4e88-807c-b3f039995d56 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:4113d1d5-1626-442a-ba69-5ed3e62ade39 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:bc29cceb-041f-4822-a2c5-f80088fe3601 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:ad368926-61a5-4f75-a451-ddfc7afa299c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:f393d2d9-83ee-44b3-b027-fd3b9e3620dc phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a9f32584-8e1a-4a70-b8f3-cf54f1e73502 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:8abb3e8c-bf9c-4505-8bdd-7877cd4f05df phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:555b1073-76d3-4602-8eab-52bd081e83de phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:132d8a67-fba8-48b0-a0e0-bbcc07c35b81 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c137da81-7f6f-4b77-8ee9-4d7309bc7c62 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:77183448-f933-444d-9a50-a39149695c37 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d3d62077-bb2a-4ad0-a786-983a89803d75 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7eb31437-68e8-4200-99af-9b19f9d1a02e phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:6ce9c7c0-dffe-4e0c-acc0-afa768859db1 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a8f6535f-3a5b-496e-8c0a-9f8a29993559 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:8160f088-172c-48d9-bb38-59a391cb2288 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:e9945c11-e198-40a2-8f46-fdb750ebcaa7 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a6a84a6e-60b0-4dce-b8c6-bee8064794ad phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:392a8b2e-33b4-4de7-9658-257f7fb53520 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:09a1ae38-61a5-44a8-8d2e-b2001fecdd1f phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3a82e448-dc23-4862-9b64-9e7a23d0689f phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3f9843a5-ed09-4534-99b4-7ce417ceb4fe phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:627a1ef3-8b6b-44b1-8654-44aeffb43cde phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:695b86a4-f87e-4857-805f-9f4d18bcbe22 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1e522044-997a-4005-9e97-7d110fe1d8e7 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:87ac716b-7603-4eeb-bed8-9b0660c5df3c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:154651f5-c32b-4411-87f4-ec9c486c2867 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:5fb73296-42ec-45b3-b4f7-81c421781ccf phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:206a138f-a7f6-437f-bae9-fac90749378e phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:47da6aca-c373-408c-b2a6-fbff34edbfac phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8a2f9f2c-c0a2-4629-9d5f-1ac097b92b75 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:12df37be-fb98-41db-86bc-8c4ef5d3efe6 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:3c758a6d-08fe-45f2-97bd-bf2980569638 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a958cff2-0645-4b28-ae42-1d8bc8f650b1 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:64069bb1-97b1-45cc-90f8-53f7abf180fb phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8b9f1439-37e9-47a9-b8aa-d27ce7a89bf4 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:9ef27ab8-8a07-476b-85a3-fb1a967d484c phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c6ced8d3-7512-4d9b-a46f-0f64fa56fb62 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:823c1c09-09f6-4552-9d2b-aeba183b0414 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:84d0b449-6490-4da6-aa67-831cfe33ace6 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a34f467b-b4c4-40fb-810f-2740c4e58dc3 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:46f10655-8556-444f-a393-440658838a34 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:cd6ef5f7-bb73-4000-9456-b91c6dc97d0f phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c5e7db97-c093-4cd0-bcc7-4f8b40ef4da4 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:25c87efa-4fcb-45cf-9924-b02761d19d47 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:e691cf3a-148b-45f8-b950-2c444d978a82 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:4b926eb6-fd0c-4f94-a0d8-eae961c979bd phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2d618101-05cb-4e86-b38f-bcda076989b4 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:f42915db-b812-47da-a44e-b844296ee45a phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7543896b-12a8-411e-9499-105cdf2055c0 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:da1fa47d-b633-4373-92c8-c9fc4354e9fc phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:59dea072-6b03-416f-b118-8a1e13ce4429 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0fa068fc-0281-4a05-9883-3a0f20103f84 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:34b3a8bf-7038-43a7-b018-7de019285d84 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a779fb46-7bc4-4fd8-aaa0-ec64b4effd2e phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:62188691-bde0-475e-8904-03ddaf97b61d phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:f5c7d873-1e9b-4faf-927d-44c2c0cc0cfb phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3e15f476-fc5e-497c-aad6-e8e3a90e80ed phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c7c5c9e4-fe2f-4873-ba92-3ba2ab5f75db phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:4c75a234-0c83-43ed-a97c-5e44b1c72ba9 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:28c5accf-8415-442d-b117-98b258b5864e phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:cb784dcb-1ad2-493b-a53c-f9c8bc62ac99 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:16d9a1ef-4081-4fba-ad79-6b4842112612 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:308c4904-dddf-4f6d-989b-6041dacfd78d phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1f2a497d-c64f-474e-b642-f207a90e9831 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:cb66f655-3941-496e-a7e7-dd506f09ab03 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:cc8d7a2e-6aa4-4f6b-88f9-039c7fe9601e phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:4d15be53-f356-4b27-bfb1-f3af179adf3f phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1f99ee15-46f5-4b4c-a0ee-5f92f4901167 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c683073e-2d2a-4ae5-833e-411a7df8c5fa phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:afef3962-340d-4ccf-ab8c-e471ec8de4bb phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:66c62340-7d95-4f46-82c3-3fc4511ce272 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d46b0f94-938a-49a1-8d1a-e90a7b172668 phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:212c7952-c69c-4b70-81b1-7766a07511df phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:fb1a7647-4cf0-4783-9069-f50dea3c525d phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:d36fd1ac-2c4a-477d-9e0c-9a37aaba6c1a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:e788d094-2389-4a36-b478-8aa1b53dbb49 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:adb5827a-8ec5-4d2e-a928-4c2db72b4444 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:bbcc2a9f-bb5b-4e4e-ae15-595fcd283657 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f9250498-72ea-4625-8fb4-78734aabc5d0 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:38ab4b6d-3b1a-4f29-8a62-75b2b88ab1a2 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f0c28c6e-d96d-4e67-8691-2f11ebcf2031 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7f147ac2-4812-4845-a522-23b5ebba2f24 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:26060204-e1af-4c40-979b-ff5fefe74520 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:4c779d21-da63-4824-b0f0-ff4d91f1535b phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:185edd52-6ce4-4dc2-b118-963b968f2fbf phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:54f3d01b-aaed-4c50-8dd3-31e6c4cd52ad phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c96bf104-31fc-40c3-b4f2-f7ccc019c80a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:84ea4aa8-a073-4fea-967e-936a8adae822 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c1745776-444c-487b-9556-b65eb31b81ab phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:ee81dec6-f2b9-42d9-af14-bf605345857a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:192aa409-96a2-4c46-9409-06c4082a7d9f phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:2607f8a0-9479-424c-b3ce-2cec1a55f697 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a601829d-ed03-4dcf-a196-122130724ebc phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:d7f26e0b-bc0e-4179-873f-a85d5cbb4ac2 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:aa3c9e41-965f-4f78-a352-b4481d5b7135 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:12cb4291-6ddc-4b39-804d-962c482f99f7 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:fda77cb0-ce53-4cd8-bc2c-7b123dffe914 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:2bca0b05-1425-4564-b181-5573415823a2 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3963ffe3-1c01-4012-b6b1-942dd89be988 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:b72661bd-f068-49e1-bf57-84b5843617fb phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d1761c65-0e1a-48c8-bc3f-ee3ff0a3c64c phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:911ca079-271f-4033-a80a-3596627417d1 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:521f2d15-8b02-4a5a-a83c-d8129b7be246 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0c5092be-e419-46f0-beaf-7baf7f9167f4 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7014d784-16c4-491d-9ee8-2693e33aac01 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:99216998-6a28-40cb-a8ba-40e1ac298f34 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:289630ff-3cfd-41f6-a36e-3d4d42dd30d0 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:aab507a9-d721-4ea5-8808-069202737f9b phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:bdecb6d5-3105-441e-9c9d-254db4ce70e4 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:884486d5-90c3-43c5-910a-8a15b43c68d9 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c0b4bb76-d1c4-4233-b3d9-fe04411330a6 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1bf475ba-c3e7-439f-be8f-1ab23941703a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0547d5f3-ee4b-4b40-b824-571f7d743915 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:00b5c637-f369-4de5-9e65-8f7b9cb2d872 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:03d00df5-7f62-4dc0-8a24-4343ce294b32 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:e65064fa-8e0a-43b6-ab00-7506dc596892 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:92eb852e-475c-4447-b912-ff9cf37f7636 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:04161ed4-30a9-43f6-9fc2-0b79e96cd2fd phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:485b8c9d-e295-42e4-beb1-875bd8774026 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:dcf7a7e3-4d18-4d52-acf9-117cce87d1d5 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:70673473-fd00-4346-8e2b-e11eb22d7792 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:fe90d1fd-f1f8-403d-b912-93d098bc6d96 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:5e867a28-e10e-4c9d-94c7-c3c330ffb9b0 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:71c548ce-1f11-4364-9f4a-1f1508579e38 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a5d2dee3-1e91-4da8-92d0-c2235695f730 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:3cfe2196-2cd8-4618-ac05-967c9991c6c8 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:55653542-21c2-496b-bfd6-74b4dfb20cc7 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f3ae3763-92ea-4528-9826-61b6d025ec16 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:27a9ff96-823f-4468-bc4d-b848a322f09c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:e707233d-7a37-4396-a520-21a2880310ba phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:b4e7ce83-a424-47f7-b56c-12427bfe8126 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:319ceb64-6f77-4867-8d49-2861c281130f phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:9ae0d7ec-ffd0-4422-ad64-831dd1521a58 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8a097815-26e7-4d20-853a-cb9778ea6b92 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:bbb64879-b206-40a0-af4b-ef8a6ba0356e phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:67b88bc7-bfe0-46ee-b7f5-f651b6835344 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a5983810-7b5f-4868-8f2c-c00e11aef5ff phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c5ed0add-9c4e-4779-b548-547f464b39a1 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:572fc03e-2afe-414b-8d4b-f20988aaa3aa phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:4e51c56c-615d-4a53-9c3a-c61f9aa67a07 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:781fd693-6d9b-4adb-9df1-b2759e4d9560 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c58845e1-b2e8-4227-9e6a-9cc44fb514a6 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:b35fbc57-20fc-4673-8acc-174e925416c7 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8aaf54f0-f614-4f0a-b8d1-58474d999ac3 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:ba6d67f4-246e-46c6-ad0b-e673b4ed6520 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:9f974bbd-8961-42fd-b177-d3d4ccc0aefd phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2d79f98f-5545-401e-99ab-b6c1fbf650bb phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1808866d-b26e-40f8-ac5c-f8f74bf8ed8b phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0375b884-10a5-4ccd-b058-752f0714e2f1 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d89f4ab9-366a-413d-8dca-5cd2f6a76434 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:75d500d7-b17d-449a-bf34-12be8f9cd891 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2db8e132-7381-4f19-b7fa-ffe2c52c37ce phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:230ad518-8c44-43fc-a538-fa1a9035bd8d phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0245a43d-f79b-4323-b7b6-594f9b749980 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1b4a3b2e-3ecd-4c63-a755-1f6dd67060b2 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:ab6e39e5-98c6-459f-8dfa-e173212884a0 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c405e07b-f730-42ae-8ec1-088b6b12909c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7ff0856e-4b5e-44c7-b339-643bab44bcd0 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:16dca319-73c5-439f-8629-959e0bd42bfa phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5dce4564-5806-449d-82fe-dd1718557db2 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d745a219-9faa-419c-a15f-6d046736ad2b phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a5ba9130-efbd-4fad-bd9c-705536f40911 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:18e8ad72-c4db-4656-9eac-07cb039ac653 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:8029b925-a9c9-47b7-9d1c-2230f5409780 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:672fbd82-bc55-426e-bc99-71ef69500f70 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:630a63dd-be91-4094-9a66-6f6362da08c4 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7bcae9aa-71cc-4596-b5a4-36c57a93a73a phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:e0ab557c-4359-41db-bd88-039b5562404e phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:11a34845-d19e-4366-ab1a-456016bf2308 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:9d7aef7e-3175-4848-a054-e35e1f8b9140 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:af2adbf2-09f1-4ec8-93f7-202e7d4c9aad phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:61d0cc69-58ec-4a06-ba8f-e9f7a8a24861 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:24c2aa64-91d9-44d5-838b-0d78748acf97 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:0329ad43-db3f-4d00-86b4-c8942480e293 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:e0197aaa-0edc-471b-bf96-91397cf6a5df phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:628b9491-287f-46fc-9f49-4c611a14acfe phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:af78b0de-e9ea-4003-817c-b1633dec0aa4 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:258d9c63-7ba5-4e92-b25b-3187fb91ecdb phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:618ef105-d034-4ecc-98be-965a28ff6c43 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:0992a4d1-e208-47d4-9be2-0bef654cd073 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a5419be4-c1a0-441a-9340-e06dec6e1d04 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:766ecbf7-34e9-419f-acaf-ea8d15212a75 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c32274d7-f5c5-411a-93bb-00800966e33f phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7c1303ce-faf8-41d1-b6b0-40b1adc72100 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:41fead48-58ea-473b-9c55-cb49df2f29b5 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:0aa14ba3-0a0b-4d98-8a28-00ebadf4499b phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:eb9d92ce-eb9a-4ded-afd2-1e9d4d085858 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:bd5fd21c-a747-4705-bfc4-3aa5020bc2fc phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:485c126d-f143-42f8-9052-4ea4a986120c phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:0e39aed6-f7ea-4799-8b33-94f46f7994ad phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:1e4eeb03-8047-44fc-8d75-12b37fa4d7f6 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3c630215-a41e-40f8-8759-6a2e78d093e6 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2ba80807-5ad2-4605-8e02-25b610cbd6a3 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1793ffde-6f6d-4f55-93af-cf88fbc45a00 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:729f45bc-6036-4341-bdd7-5bbde93d210c phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:31b7b037-7a05-40da-8fdd-649c4c4bfbb6 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:99992cb9-fd76-4d0f-891e-5a3bbd69d3e2 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2e9199a9-d23c-4cd1-8ceb-233becd1fbe5 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d66ffb55-8630-49ed-bb54-92c22613d26d phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0beb3896-3ed7-448b-ac46-c69f03f3e29c phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c313f0a8-1dd4-4cc5-a598-b7c19edd8e8a phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:fca1db5e-3f69-4d75-8906-51dbab91b55b phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:abcbdd35-330e-40d3-98c5-19ed1712486d phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7482cf24-a520-421e-b053-d0c8171eced1 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:9aba825c-0ba6-4ab8-a333-3deea87b12c8 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:266d337c-2dbd-4c7e-8f0b-7579a70cea32 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:f9fdd9f6-0cad-4502-b9fb-1236b7273880 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:b222c88b-f388-4f98-9c41-82dfb460462d phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:21354923-a561-4b25-8350-8d6a3c0daf23 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:6ae59e6f-1c08-4195-9e80-418f3862b624 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:bdb85f1c-6f4a-424f-b544-4a61d6c5fec3 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3c81c262-96e4-475b-babb-4ca60bf6ab27 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:f49d5f0a-e2a0-4419-b7c3-341141f857fe phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:efd92f41-2f32-4fe2-b121-184fab8c7997 phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:a376902d-3929-4048-ad21-3b521ed6d5bd phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:febf9bc5-fac3-4216-8928-1a6f9194e254 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:b27208cc-8af6-400b-af68-7a4c4451c0d1 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:6162713b-36bd-4208-aaa1-fd7aadb04a1e phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f9855815-806f-4688-aeaf-244b37811277 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c18fd1e9-ad13-418f-b322-475a67ee60df phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f262c8b2-c9bd-4d76-8593-07699ddd8a61 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:3e6d554f-5c0e-4d59-823b-576a3d2a0eaa phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8c12b731-e621-4766-a752-971b394f3143 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:69745399-17c4-43b7-ab87-6b0ab6cd63e8 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f422e0bf-92c1-4484-bacd-549658abd926 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:dc9b403c-80f5-48ed-a50f-7ceac6f4ddfb phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:5e0cad46-575e-4ccb-b330-a52ed5b0f098 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:cd8e0da8-bd9d-4c24-9506-048dfc13f9e1 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:040e3ae6-d8ac-475d-9557-5641fc549acc phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c2d792ab-839f-4adb-ad54-b223cb8e55c6 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:1ea00698-acfa-4d94-9d19-8b3e9218253a phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:6b4f1196-a935-4515-82d2-26a991099001 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:6a97e0e5-3ff2-4729-a8fc-602d82555976 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:525742ea-2ca0-44a3-af1a-8ad3d1424941 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:e14d2edd-ddd4-47b9-8dca-ffc850cce678 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:46e1ff6d-1727-414a-90ff-81c9b14e1427 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c3b6f5c0-d7f4-401b-9334-c85e3f9ac2a1 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:941d8532-ae6f-4152-a689-774287f39b5b phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c7cda897-5601-42e4-9a7d-18c57b923c35 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a047af8f-69f5-44fd-9f9f-766be3ba7a05 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:bdd29d83-e15f-4dbe-822d-9ba6d7f28bb2 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7495721e-18f5-4cdf-a72e-101ed2a43e29 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a63db74b-cf7b-4c35-8184-33c75d6817b8 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7bfdd71c-3036-4a18-9462-fc78b796d453 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2aebb7ff-c312-44d4-a902-f9edc2f5ae97 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1fbd2c53-062d-45fb-b3e6-2c5f7ecf2d6b phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3f1e5a14-d3e3-4046-9ec0-49a32344b22c phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c2a8f2a6-99d4-4fa2-bd38-875fab46d5aa phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:306aab06-9552-40be-afae-898ebe57a834 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0656418d-4827-4c34-8d12-e37b8e929933 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5e1693a2-fb12-4b22-b2f7-e66658b5d6c4 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:83a42b5f-0253-4bfd-b2d5-8b75ce5bcdcb phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a16a702e-9ff3-46f9-9019-7bfe22eb96e8 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:6ac43f0c-be60-4c72-907c-7ebf1eddc2a9 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5fe5c744-b72e-4e68-882b-ee0aefdbcb1f phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:2c49bbc1-1547-4181-aa01-32fc47d9d3cc phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:84a122fa-f2fb-4495-b910-de646a140c76 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0bd94c59-722b-4281-b8b5-7ab0d055f345 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:da6cb694-cf09-4115-97c8-f5fccf269f7c phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5720138b-6a88-4f7b-84f9-5c83bedd0543 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:a0971e5a-ae83-46e5-a567-669252193989 phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:2792498d-d564-4904-add8-d611c9cc5dbf phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:07c5f064-2d84-4e97-8b65-e98a12d3bacc phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:3d20f591-a156-49a9-8fe5-79336bd9aa7a phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7978f3f5-e5ca-463c-bd29-12bf656dcd01 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7853c9eb-608e-4b7d-bb26-236332d48232 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c74f9c8b-9de9-40c1-b405-017aed90f962 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:1aa457a9-e9b0-4215-b54c-cf5875389cf7 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:1e996103-19a0-4554-a564-443bacdbf90e phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:d279bbef-2e58-4a26-aa82-6a59b478c3d4 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:aee64fa8-6dc2-4815-aa36-3e132b526de2 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a83d9ce9-d17d-4bb6-94b2-70f6c5f70da2 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:cd9daa17-c5cf-471a-8a93-b168c7e3bd58 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:23ca55d7-16d0-4fc2-8eda-99a737c8c69c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:28d04fb4-65ae-4570-a00e-9b962dacf82f phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:45f2bc3d-ed50-4c61-ae13-d4c9671549c4 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:6ea3d549-991e-4529-94ce-a34000882a73 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:58f2e56b-531d-495c-8481-d4e1c1f2db5b phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8e206f24-741d-42ad-88ff-b0b8da3451b6 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a207532b-6a08-4ebc-aada-13c8016fa88c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:dbb23484-6086-4c7f-823c-6fae7af70486 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:8e830dfd-e474-418c-8ceb-ccadb64e0615 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:eb650e02-8d9d-443b-87d5-b9ce8bfc30c7 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f870cc7d-0bfc-476a-a7d7-ddaa506f7078 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:84186ec6-481d-4960-acb2-5371318eb83e phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:cd28a807-1326-4523-949f-177ae7ce9aaf phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:86860844-7ebb-4c28-a4f5-097892819a8a phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:91d2a2c1-7173-430f-b26e-b188b9c7da89 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:4e5da616-762d-42b4-b5b2-a37792d2d449 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:99b596d2-74f6-48ea-a466-2ab7541a9be0 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:86ac4299-e5a5-4a8f-8e33-fb1f218f99ce phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:47bc8e58-49e4-4623-b33d-29a32e74d7d3 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:1876fb4b-6b79-451e-b088-2dc730de415c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:4988c550-785c-45db-8ec2-b896ba189274 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:dd08a331-e988-47e0-a74c-3a05b582c425 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:8faacadf-696f-4b1e-9cf0-8ece2d3bff5c phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:85d5478b-50c2-4fcc-9d1b-b0a95b2e1b13 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d05a5b91-d618-4cea-836a-4f6620d45686 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5fb48151-8b09-4908-bcc5-1735c717baef phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a61b0df7-9757-4b84-b1df-be6e33e90209 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c6e8315e-a0c0-4dbf-8ad9-de1e50e255de phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:8b3d3c6f-9b40-4ee1-ab9d-762f59df21db phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:618dea76-4089-4bad-bebb-3bf762d82148 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:ae0d8f1e-32bc-4a35-8942-d8749cef799a phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0ed2628b-5538-4dac-85fa-f37fec0d7718 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a30ea35a-3156-4541-836c-76f96ae463b4 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:c8607ead-d217-4752-a88e-2669e7d0cf92 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:4be3b14d-13ea-4199-ae67-3bed6470d9e2 phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:3a01ca04-cc6e-4e27-95e3-99ce6b950b39 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7f27bd69-b252-4bd9-8b03-30b25906f03b phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:049a0bd4-e1a6-40e5-86e5-290a82712815 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:397479e8-c105-484a-a7d9-f60bae03aaed phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:a259d7c5-a6bc-4d7c-9e11-9aa8055a6618 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:7e04b5a7-42e6-46d4-ba60-826b220cbd41 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:97abf15c-ca23-492d-8675-c4cff6423cef phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:2d2aff4d-3ac6-4e23-98c3-e7e7e10d87b6 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:9e9ccd1f-b2e6-4911-9b83-9f6ee58437dd phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:56dd15f3-841c-4a20-9932-c3456c7b2bde phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:856d9628-f07f-4d0c-beff-bb5840627823 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:b03a5983-6905-4821-a3eb-72d6462364e1 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:932bbdff-3660-4ac9-af67-bfabc9f2f210 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:41d2fdbe-8621-47bf-974c-171a09668521 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:51041ab1-6f4f-4c7d-9ac4-18b94c01ecc8 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c7f3e641-6512-4349-b0f3-4823deb5ecac phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:15a87d29-9e95-4e7f-a8f0-c2394e326c5e phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:43ae3859-4484-4db4-bc4d-d3ccf447c2cb phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:567e0e4e-b443-4352-aa3a-0f1c33f9253d phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c67ea856-6fb5-4cfd-a0be-440858545e67 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:0195b0c7-b4ce-48d9-a9ea-83a58d00fb0a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:89187205-5411-4687-b35f-ba37bdd8c1c8 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:76e488ec-dead-401c-86bd-82c4487f9102 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:f6453d19-9a89-42f0-b9a3-89005ecbf4d8 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28886341 uuid:c2995e7c-9f8d-43a4-a2e1-0764d0b3fb79 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:3cc492a2-0934-46da-a5a9-97ae89ec683d phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:511c98c7-9f99-4374-a94e-fef4adc26d87 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a4848f9f-abe8-48b7-a590-5bf52bbe7ee2 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:43331e28-110f-4bf1-a2c2-1cf60820da5b phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:5720604f-d741-417d-8e5f-d0b5d6b2013d phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:4863332d-546d-468b-9089-1808888e8aa0 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:15be2aa3-7894-4f0e-b4fa-f59bee652961 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:cb69224a-555e-4c40-a881-f44645c0e48d phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:bfaefcf9-87db-4e4d-a5e5-61aa59d676a5 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:7001d605-35a5-43b6-b0d0-33caf6d2d3ee phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:a60a035e-46c6-43b9-a099-06db4b624fac phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:ec89ffc7-87aa-42ba-b2a8-21a290908780 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0fd1eeda-31aa-44bb-ab48-a553a8be034b phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:92a5a3e6-817b-474d-9b79-10446fcce5c3 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:d6ded4be-b6be-474e-bd10-ac999aa968ce phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0007413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:dbd28bbd-68ec-425d-ba87-74d70ef5d96f phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0025300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:0d5b2918-d33d-4545-951b-96ba99f473ad phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:bc1b47fe-69e6-48a2-a340-d44d526153b1 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:f8198a80-4c5c-4d62-a44d-8bd71fa17210 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:8b40da75-5a13-4771-a7e9-c79883d3498a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28886341 uuid:611a03ea-08bb-4d3b-8362-5fd6e3c7eac8 phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_disease OMIM:617694 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:9dba07cb-ed01-4c8b-a52b-2c5eb597a59a phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:has_gene HGNC:1770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28886341 uuid:c1d30c1f-ba2a-4950-9a48-e71dc359fa6b phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23726037 uuid:1ef6ef8f-2bc5-4848-a092-f6df24e70f07 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23726037 uuid:bbbb7ed4-0c8f-485e-afee-6b2494aefbe9 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23726037 uuid:647dd065-2ca5-4f20-b982-a7c127cc6c35 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23726037 uuid:9db64dfc-f59a-4636-bd0e-e910c46bbd09 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23726037 uuid:982cc8c1-d171-45ed-9870-f6a733949b5d phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23726037 uuid:db794ac7-f883-4f75-8ca8-596d7612e291 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23726037 uuid:9e08ef7e-9d30-4565-87fa-8471dab178ff phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23726037 uuid:45a0b944-b97b-43f4-8d64-3ec1fe2edf58 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_disease OMIM:604804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23726037 uuid:ccee41d6-35c3-420f-beb4-744114308e46 phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:has_gene HGNC:18672 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23726037 uuid:c8c08e0e-f610-4538-8c16-52549dd646fb phenopacket.store:CENPJ.PMID_16900296_IV-4 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:fea1196a-b096-4e03-9bb6-41cc296fb0a5 phenopacket.store:CENPJ.PMID_16900296_IV-4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:a18e736b-361f-4072-99fa-ad70a6675bd3 phenopacket.store:CENPJ.PMID_16900296_IV-4 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:8560300a-95a2-443b-8cf7-4c36bf428492 phenopacket.store:CENPJ.PMID_16900296_IV-4 biolink:has_disease OMIM:608393 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16900296 uuid:9ef97f68-ded7-45e9-8ed4-b20f225c123d phenopacket.store:CENPJ.PMID_16900296_IV-4 biolink:has_gene HGNC:17272 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16900296 uuid:1d00f848-d20c-4ce9-83b0-9c8ffba38c2c phenopacket.store:CENPJ.PMID_16900296_IV-3 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:26e9fcd0-34c9-4ef8-aa7e-2cea392a5f26 phenopacket.store:CENPJ.PMID_16900296_IV-3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:65027d57-7bc7-4613-b669-7f31e4329488 phenopacket.store:CENPJ.PMID_16900296_IV-3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:247e87a5-f006-4617-bc1f-67b2c10aa2c6 phenopacket.store:CENPJ.PMID_16900296_IV-3 biolink:has_disease OMIM:608393 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16900296 uuid:64c85b68-e578-411a-b7c8-3fc940efe2e0 phenopacket.store:CENPJ.PMID_16900296_IV-3 biolink:has_gene HGNC:17272 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16900296 uuid:cd232ae6-bef8-434b-8b20-df1494e398c9 phenopacket.store:CENPJ.PMID_16900296_IV-5 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:4c8fece8-fff4-46ce-ac82-f0c3c07857a5 phenopacket.store:CENPJ.PMID_16900296_IV-5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:b9301a48-89da-40f9-972f-a01608a07763 phenopacket.store:CENPJ.PMID_16900296_IV-5 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16900296 uuid:8d8128b6-0442-4f74-b9bb-44ee56e8283c phenopacket.store:CENPJ.PMID_16900296_IV-5 biolink:has_disease OMIM:608393 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16900296 uuid:3524f513-3fa4-488b-8b42-ca465430346a phenopacket.store:CENPJ.PMID_16900296_IV-5 biolink:has_gene HGNC:17272 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16900296 uuid:db0e0d50-9a59-4b34-a25b-b4c05d41970c phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:777c6fda-a626-4cf1-b396-7f8cfa8eedea phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:27beedd7-a0e7-4171-b50f-73f162259029 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:04e0e8bd-3a77-4e8b-ab79-d18f480f0a61 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:7d98dc8d-b120-4d8c-a86b-f65eb1701c98 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:e7dd3479-7d9b-40f5-b239-6008589d653a phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0100040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:3745d762-cc91-4f16-8e56-2b284eb1749d phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:a6627631-07e0-4dfb-82e3-a42faa5ffd5c phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:349fc831-6316-44f0-b918-4e7a4bcf4657 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:d4aed47e-9899-4b43-a42e-5620659935ee phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:5422c0e0-5e6d-424b-a52f-e150a7a1f06f phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:29b4d2a4-543c-4b55-a51d-a41e75f16feb phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:4ecb86eb-e6a7-4d7e-91ec-8020275fd54f phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:5b2f636c-f6df-44a7-9eef-982843e7666a phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:e9ce3824-e6ad-4365-9696-cb94b02a0726 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:a9f9b4ed-89aa-4313-b008-be81cfb1fb46 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:9d7d1bcd-3330-4fc3-b603-e354d7715467 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:12035698-8cd6-4d3a-b995-954923729186 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:435c64af-5517-490a-8684-92b8d6a830bb phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:67e3dfba-d4f7-4c1f-88d0-d725a6aee5f5 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:760b72b2-9007-4475-86e7-3718b5d3983e phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:568a4381-483b-4e4c-a945-34eb358f289d phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:711c6dfa-9536-4b88-baf1-dbbc8972a91f phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:7e13760a-13ba-4a92-9d8c-ae7a65b0e46b phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:697b3cc8-747a-4d20-839f-1d7bfe479bc2 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:4ec6d93d-ee29-4d83-a246-df5607a2bb68 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:b7cd05fe-49dd-471e-a875-af5c41e72cd2 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:daf8ac07-0dd7-48a7-aa9b-392fb4a1bbd1 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:6b0451f1-6350-44c9-8815-1b3e1dff46f5 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:4d150d42-d699-4f58-85e3-a217fea073c5 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:b55243c6-28b9-4213-9776-0c1f92c86aec phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:a82b0879-6e7c-414d-94a1-d5a49578ed92 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:7b155e84-f384-4181-a5ad-86bc273d9500 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:6fff2640-d723-4b83-96f4-8e9435fbddcd phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_disease OMIM:620767 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:fdf13aa1-b9d2-4c3a-bc89-8db1f25305b5 phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:has_gene HGNC:29366 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:44e97a46-f4b7-436d-bf74-6bf94742dd9b phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:49277ae5-4236-4ac7-866e-00e3764a9f8c phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:6af79f88-715f-40dd-9806-511629c42ab3 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:58ac0a24-2156-4760-bdb7-9f23418a3b5f phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:7c785a11-f20d-4a90-aa3c-287f8a9d6bec phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:a2be93ec-6a28-4fa3-b367-2ae0c62791ec phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:b9e16cb8-4a88-48f7-921d-5e1e96e3215d phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:40b1b9ed-1aa3-4053-8780-8a5d64517f14 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:430232e3-a757-4c0e-bb5e-a795f8cbf28d phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:54b3001a-aa78-464a-8ff7-70bee6dc2350 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:f53940e0-e55e-4944-81a7-87644aec37fe phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:fab32587-7a8d-4967-972b-4438008a19c8 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:6f8294c8-1e92-4e79-8fa4-c77b4ed0414a phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:19ad863c-f43c-483b-bbaa-f885393a01f7 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:bdcc471b-9049-4c61-b04c-ec0114c2b3d7 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:93b688fa-5353-4459-9a6f-58ef3dec3a96 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:d0fa5466-8bbf-44b4-9042-de3a904e95aa phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:79266332-49a1-47d5-bd2e-f06974b60fb1 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:0924e22a-0bba-4946-aa6e-ab41ebda64f9 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:206810d4-4b48-483d-9b22-b6e1684628b8 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:ed93ba91-1c48-451a-b558-826d8ad7c53f phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:0db15f42-047a-41b7-a4c2-a1d42d8d9e47 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:6b9c8785-e9e1-4c6c-a403-155152a0b78c phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:73d6a77e-401c-4155-9fb5-d05567d44556 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:df8c0645-9102-4605-b1dd-60f664002c42 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0100040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:ec3a2c3c-ce36-42fe-a32a-613b6ee33fb3 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:6b2cda4a-4f68-440d-a5f3-0c9de134e2a6 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:a4ee7dcd-2162-4535-8176-a7e7dc7b2f79 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:67ad4883-1467-4557-be1a-de802120adc2 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:56b88d1b-5a37-4b01-930b-0b0d639f0f6d phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:790b9e54-6b65-4212-9515-0284706356bf phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:9518f4c3-bd78-4430-90d3-a68c3033554f phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:66c80c8c-4e68-4590-9b99-53b5935cc20b phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:993708fb-60f6-44b8-b902-bf6f54e3bcea phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:3a4d2b31-ea98-4db2-8c18-91f4d51585ca phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:49c4f093-b773-4a33-a372-c6353404b6e5 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_disease OMIM:620767 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:1e9a9c09-e838-496a-85e2-1be145fa7691 phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:has_gene HGNC:29366 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:98092771-aca7-4bcf-ba25-ae7022d84f38 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:1382c70c-8a8e-4d8a-be34-4f22cb49c7e3 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:4b8fb80d-8971-46c5-8fc2-ce590988cb0b phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:cfd9ea54-177e-4872-98b9-34ddd649ab81 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:ae037483-faa6-4207-a53e-6dbabd094687 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:1ecaa30e-fea6-4958-8751-69648e659009 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:3fe76ebf-15f5-4655-844d-c3324e8e3116 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0100040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:d7926bef-42c7-4229-8049-1e62c4579a8d phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:c77d7010-ffe0-4d49-8cf7-9d055ae83afc phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:5f686ec3-20a5-4ce2-a5ee-ed2592ef7e53 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:631dacff-bfcb-4e12-8f8e-532ce8b8db02 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:b1ed369b-eaf6-4c90-bb9d-22d9c1f6717c phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:a15d5b39-ab18-41bc-9a1d-457217472364 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:692f7ef3-36bb-45f5-b6f2-ff61a592956b phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:9a912f7e-bc2f-47f3-93a8-06ab6cbe2395 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:89d21154-1102-44e6-bf0f-05694b8e6430 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:76b20adc-bd8f-4c39-940e-3912bf45790f phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:bdef1d59-8ce6-49de-b318-f9c2d767ea51 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:9d12d451-4c8a-4763-b93a-cab2d0d1e9aa phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:d025844b-21f2-48cb-8d7e-9926a7cb73d5 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:da880af1-6406-4f67-a0c4-ae8c024cca38 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:b5041594-d715-4997-83bc-8b15b50596d3 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:e458ee45-9038-4af1-85d1-c8d5f16da170 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:6b4555ef-10ac-483f-972b-c78f5926c000 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:c5fbdd88-de37-4eaa-a512-4c7e19b4bbef phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:fedccfcd-177b-4e2c-bdf6-3a4834d26b2d phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:264c2f91-4361-4bce-ad61-6f759f97b8b4 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:c997c7dd-fccf-499c-8d4b-8d450cbfe5a7 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:debed3f7-8dc3-4d4a-b162-99a72eea31df phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:1351073f-e602-4d37-8233-b884c28af676 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:f06b720b-1d25-40ac-8013-b7958827683d phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:9a7c40d8-e263-4c49-9209-aa4c90f3b85f phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_disease OMIM:620767 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:bd0d6edb-b1d7-4957-afe4-5c54c0a533e9 phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:has_gene HGNC:29366 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:50893a49-9dbd-4a48-99e0-c2d522ff77c3 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:f01041e9-b254-4758-a9ef-82a1e6e08aa3 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:c1365fa8-acde-4e64-9a32-0f9715396244 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:fbb4a3df-2aba-4c91-bb24-bb318ea1180a phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:d97a2a05-21b4-4ff2-af98-db1bc328c3e6 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:aa98d82f-7571-461e-be32-e829f6a2137c phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:866c82a1-c22f-437b-8bad-1580fbbed5ff phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:88f3a5d3-43d9-484c-88a9-ab3c75646537 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0100040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:b9b4c273-923d-4c93-adb1-cb075447a845 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:2812d710-00f0-400f-9e8e-2fff20fc3c1f phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:5bfad5a1-dd8a-4a29-9c1c-0f41db61d336 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:4a391fb5-643c-44c9-8ad3-663c4f441e42 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:41c71f11-967a-42b3-a623-cafcbaa81ccb phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:0832d764-a713-408c-847f-2374076bfaa0 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:cdd84cca-b443-46be-a268-b0c1db6a45ce phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:34433dc7-73c1-4d63-933f-05764bbad818 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:b035cefb-2a20-4f3c-9e4f-92f193690f60 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:b57f58e6-1b99-4d36-9607-e84f1bac1983 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38154379 uuid:e51e8300-7dad-411c-b016-8ef3151dd0c6 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:8db5d644-4d14-43b2-a4bf-4ea600ad8586 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:3875e4d1-64c6-4c5c-8e8d-3d131abf4a7a phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:174323e3-a34a-45be-9dc0-5e37f6181c87 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:b6c1d29e-a0c7-4a7e-8394-042c8e27bd4b phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:1a9961c2-6777-4110-bc74-57b05a771002 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:dabbcedf-d2b1-4da3-9f54-d18f740b3a3f phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:3ab3cc67-e7eb-49a8-bd81-8f3ffbbe3117 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:4350663a-3cf7-448b-99b2-4905f12ecdc5 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:aadd247a-3040-42a5-aaa4-adc5386a6e07 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:ff156a13-3a67-4e40-bc99-fd40b25deb13 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:44aef6e7-6ee4-4a80-b1e0-882db5490d15 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:f8eb9a1c-1b7c-4602-bf7d-a9f078904428 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38154379 uuid:13b83968-ce59-40f5-bd8d-14b60912b7f0 phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_disease OMIM:620767 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:53919141-339e-499f-8eb6-4ee044b5307d phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:has_gene HGNC:29366 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38154379 uuid:152a5fe7-b2d4-439c-89be-3565f377e406 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:22560515 uuid:fa1648e5-8a1f-4f69-9bb5-423b0e7a1f1a phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:22560515 uuid:76db370d-79df-427a-9af7-217d68fb3c3b phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:22560515 uuid:772738c4-746a-4bf1-bb2b-e79cdad33b66 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:22560515 uuid:7ffd8ba4-1547-47f6-ac51-061612d670d8 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22560515 uuid:97c560ef-e6bb-4853-a3f6-4d8438412c8b phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22560515 uuid:9ee58b7c-8f77-431f-b3b6-f6a9edd393bd phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22560515 uuid:3314630c-0ada-43c8-8b82-6b96821eabde phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22560515 uuid:6a76b060-74bd-4a97-b1f5-ce9d2da17ebd phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y3M infores:phenopacket-store PMID:22560515 uuid:34518e10-809f-4444-8fd1-c13166e156bb phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0020203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y3M infores:phenopacket-store PMID:22560515 uuid:1a567d91-eac7-4160-9fb5-861969a24815 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y3M infores:phenopacket-store PMID:22560515 uuid:95c1f94a-e017-4757-953b-292f8f854713 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y3M infores:phenopacket-store PMID:22560515 uuid:0339e149-43f3-40c6-89ec-87cf43959823 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y3M infores:phenopacket-store PMID:22560515 uuid:358812ba-e807-47c0-88fa-22a0ec4f726c phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:4f20df6f-0ff2-46f7-a59d-880427a503eb phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0010300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:ca5eebe0-1b5f-4cf5-895f-1c783408af89 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:2ae3559b-27f8-4b49-98f2-5bb34c8a5110 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:a0676e2a-7a5a-4b06-ac04-8e3cc90b66e2 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:b2f0a7a8-41c9-4563-abca-bbc08415ef83 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:4884aa95-5b94-43f1-af1f-3537f35ac7cb phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:6fbf09cf-bf2f-4ea9-878f-b2f456d42dee phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:bac75db5-cd05-48ec-b9c2-b7b76cfc4195 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:c929ee34-0017-4bf7-b62d-0d5579fe0551 phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_disease OMIM:610687 biolink:CaseToDiseaseAssociation manual_agent observation P2Y7M infores:phenopacket-store PMID:22560515 uuid:afe87fe9-acfb-49a8-9e6d-8ee90af2e5ad phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:has_gene HGNC:1875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22560515 uuid:358058f3-8046-491b-99f9-cf7e5a77da35 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22560515 uuid:053333f2-c5d7-44c4-b823-63fc8c61af91 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:22560515 uuid:13e6154b-4337-4e89-879a-65a340630363 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:22560515 uuid:7d86b160-4c46-4121-9313-0101f5d158b5 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:22560515 uuid:4ef8a445-a375-4142-bc7c-ac15412aa7ff phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:22560515 uuid:5c41df95-adb0-4fae-a387-7f963c2dd9b7 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:22560515 uuid:f9e7b563-0d6e-4ea2-9ecf-d70878bd6c47 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:22560515 uuid:211cba45-e4a0-497f-9b4a-f62cc5165be6 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0010300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:d81f71eb-03f0-4398-843a-f078a6921d34 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:51f4107a-a97d-44d5-8d4b-ab772637c9ea phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:b9e47b16-1c06-4f51-b721-e00d7590a380 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:a05c213b-f6d5-49ae-a4c1-9096cd918e85 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:14a174f1-dac5-4e95-a818-ef5b3eab1db5 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:79462be9-857a-4168-8a36-197a1f5a6289 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:cff4269b-1c36-4226-a0de-2af203283669 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:a4e42818-81da-4c1d-a913-f85c59383d7c phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:22560515 uuid:59482666-dc61-4136-9894-195323a1ae9e phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:22560515 uuid:fe41d80a-e286-48e5-9f93-eef463fd1e10 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:2de9849e-5efa-491b-99a5-03197ad5feaf phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:c1f00512-259b-42d0-922e-c9733b046c13 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:897a4ea8-fbbe-4741-93b5-c8d15fae7d1c phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22560515 uuid:9f146ae3-9d58-4b2d-aca3-1721cfd5f7b9 phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_disease OMIM:610687 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22560515 uuid:891ff09b-35f1-4a4c-a229-5f76f42d160a phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:has_gene HGNC:1875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22560515 uuid:0d7c48d4-9bdb-48b1-bdd4-ee6c1cb0f5e0 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:b7a7d3ad-9393-43b3-bf76-6dcb309c5fe5 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:17661815 uuid:12b51e3d-5f3c-4a76-b81d-8c9ccbe33ea9 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:d0055bfc-a580-432d-88b9-f471d7bdd175 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:07dd1e7d-08bd-4c09-98cc-889f9ea129b4 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:7acd69fe-0925-4e7a-8cb3-e81288d977c6 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:29f371b3-1f67-4c5e-a538-dd0ec2802d0c phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:bfe2f3ef-66a6-4acc-a7d9-fe2b8f15d488 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:2f677796-6232-4b17-8a14-d603d1d48ff6 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:52860d2e-feec-4462-a7a8-712a424149d6 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:a8bfc7ba-1fd0-47ea-bc14-ba9cdbb4e286 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0010316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:44fdd69f-709d-4ef8-81a1-6e7cbe4c5d0c phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:9ae67f19-a6a3-4b4d-9ecd-f2e38ac60174 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:b3b1fa10-6763-4e72-a37c-5578bb286b2e phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0002623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2a3950f4-fdbf-4de0-a480-25df3532bc17 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0005290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:b4f111e5-0998-4396-8cf3-d3e092996ee5 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:15bee7b3-108d-4fd2-9aa2-eede80da49e7 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:66b78148-de12-4f32-a045-ce251757896c phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:66384a16-29ed-47c0-b731-13735f35909b phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:f3b41f4c-e7b6-4d9a-8991-bb983486c700 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_phenotype HP:0011382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2f65c98b-54a7-49eb-ac7d-eefe13124378 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_disease OMIM:214800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:d39a8edb-8070-4099-91fe-b10334566834 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:has_gene HGNC:20626 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:cfe0549a-a0fb-473e-8e79-1ea2f758355c phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:ffa62ece-0b40-4744-af1f-0b2663f33be6 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:fd2430fb-459c-46c1-84f9-1c47badd3cdb phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:f7a1ab58-404b-40c9-bf4b-8d00280ef050 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:21146d5b-a45d-4aaa-90be-785dab95ff8d phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:c891eda0-b7db-479f-8297-3477d88515b6 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:94ea1121-0922-472b-ab77-85363261290a phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:ed6663a8-f8d1-41aa-af97-24d67f2e13c1 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:e96ee3ad-1f71-4fd3-8f0c-f7d1e18ad7bc phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0010316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:993f7fc4-faac-4b0b-ba25-173d03c87808 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0002623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:a1a96c5f-edf2-4510-9686-2644cec97cab phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0005290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:249bc0a6-a92d-4b56-b988-22a722883118 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:bf61be0f-26cf-48ed-bc9a-a90ae94f948f phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:a9721ed2-2bcc-4208-a0fb-7ce010b894e0 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:74f544d2-f60a-4799-ba64-0cf02798ed93 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:cd751cd7-a673-4556-bb65-5fc4df6daa24 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0011382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:f240bf6b-1e21-43c3-9386-b7cfa71697d3 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:04c38356-baf7-47fb-9375-c6a0a76f24c3 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:c3130304-25b4-4bca-9cf9-17e976e3d06d phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:241f2f2a-2200-42a3-be17-89c7f3a696e5 phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_disease OMIM:214800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:e8925639-1e29-4e54-9265-0f078790820c phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:has_gene HGNC:20626 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:00a3cb5b-3571-4ab9-96d3-e792e45ca057 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:fcca8fb9-f12c-4285-896c-8bb7bc3bbcd8 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:3408c85e-e605-4376-98cc-3f6e128e94c7 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:fb1713be-08f2-4589-b701-5dfc7c3483a5 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:a95613b0-14c0-4f80-b32a-97492bebd3ed phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2bbb49e8-9278-4afc-a53d-b81750617a75 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:add2ba5d-056b-467b-b46b-9e4229a4fd1c phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:0c6fca84-a7e9-48db-81da-5fee4062abf4 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:c4593ea6-ee2f-449f-8868-587fd83c1187 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:91a6851c-5153-4cff-961c-abfc4a4d94a0 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0010316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:c6801704-db86-451e-aa9f-d2676d01055f phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0002623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:e0d51ab4-9f03-424e-ade0-22847a2cd0e4 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0005290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:ad0cfe3d-edf6-425d-b2ea-1f3e2119c2e8 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:6dfed8c4-a647-4f02-9f56-b2e15661d207 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:d1ce571a-3638-4c16-b390-8ee8b5ab11ca phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:e0048721-f85b-4219-9854-6382af17583f phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:23518a37-a8b0-4335-a196-9d8de6e86830 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0011382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:8280600a-e1fd-4561-9668-74f4c8e83838 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:c2db343d-fb5d-489e-ae7f-128af2ef743b phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:de394fe5-cc02-433d-b58d-c3e9372e3906 phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:cc0b1600-8f44-48f9-90f7-cb786d17c8eb phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_disease OMIM:214800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:dc17f52d-6c58-4df9-bfd4-47b9a83f465c phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:has_gene HGNC:20626 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:706fbc24-e9a8-423a-ad31-9fad70a838ca phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:17661815 uuid:55b1d194-0159-42e8-adc5-170c27402748 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:17661815 uuid:322baa54-53d0-459a-b7f7-329c4b3cc0ea phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:2999c700-3a02-4325-bfbf-f6a3dca36c8b phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:8669215d-95f8-4eb9-a785-77dea5769ad5 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:b623fb9b-b5e7-4ed7-aa4a-d6931e6bde7f phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:f02042a9-2e02-4e71-a6e4-a0ea937e9da0 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:3fd58cd3-092d-4ab7-b0ea-f4ab0794735d phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:5503d3f6-0dbe-49f3-8782-7bc664074e2a phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:6ca00ae1-1c82-4d2e-a3b1-2c4c3124f34e phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:c3aefe11-0681-484e-a7f8-9dad5455e812 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:1e73cce1-45af-40f6-baaf-ee316530ed42 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:469d91f1-01bc-4505-871d-032b60432eb4 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:e76010df-2259-4a19-9754-4f68af2a5408 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0005290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:09cdd30a-7fd5-4bbf-a296-ea7834271691 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:ae4e151a-28ac-4e74-b1a4-a1f9bf57386e phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:19ab3b88-2352-4c4f-a7ed-17d15c6b00f3 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0011382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:1a8d20e3-fe78-47d3-a396-328335d69e42 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:be8b51c3-edbc-4c3c-ae8e-c73cc1895f0a phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2c09ce1b-d455-4863-a3eb-d010ef6b6ea1 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0000376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:d1fe35a4-58fe-454d-a6e6-c26d0061ac42 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:36a63cf7-b0b6-4e35-999e-8fb5462b5ac1 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0010316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:e7417117-f571-458b-86c8-d034ec8ccc10 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:de2f49b8-d043-42fa-bbc3-63be18395096 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:32b88e05-51e3-4a47-89df-d12f0065ab1f phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:c402a38f-0e3d-4c0d-96e3-38d34176d274 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:971c6ba8-b9f5-4bfa-b90e-807931eb9ea8 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_disease OMIM:214800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:93774d23-7002-46f6-a02b-c5b10c56baff phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:has_gene HGNC:20626 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:02775a4e-a105-4691-8362-a40b50f9307f phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:621d7370-ca04-4667-8013-f1c233ac92c3 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0010628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:d92ef244-131a-4263-b161-9415ea311ce2 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:c1d32431-e7ee-490e-a029-33393851be51 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:d8903a9a-170d-48f2-af10-5afdb4428af6 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:9298c987-fb0a-4f2a-9c94-98fe4acbd8a7 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:690c3700-6070-46f6-93ee-b0fb128a78a9 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:4a74ee6f-d956-49c4-8b8c-fdd2c7626e39 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:073b139b-c050-465c-ad35-5f70ee739635 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:6c40fe55-bfed-4d31-9088-67fd7a08e765 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:771274d3-83a3-4029-bbb8-f0410a2a60ef phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:67ee91d2-f6b6-47c8-9b85-50681d8e0848 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:5c0dd706-e583-4af8-b902-ce81c8ad0dc4 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2d07118d-93ac-4529-9168-078f40996099 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:dd66de8f-b021-4a65-a57f-bc8df7bb282d phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0010316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:3f4d7ba4-75e0-4568-80ba-f52b8522297c phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0002623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:15ba6acf-2529-4898-8cb7-9146ae854c90 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0005290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:955eefbe-33a8-43d9-bc67-7e672619b101 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:d157d421-684f-4a95-ae2d-d2a88f95c554 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:beb7e5fc-7c26-4c68-a734-7441ca5933fc phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:843e1803-30b8-400c-a3df-f96d407a4340 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0011382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:f4b90b72-d9d4-4fdb-852a-c0bc080e8527 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:39e8b646-14c1-4105-ade1-6f32110ebf34 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2c2937ef-b424-4ccc-8080-1291d51912eb phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2429425b-e4cf-4815-b7c5-031b5be6c959 phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_disease OMIM:214800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:9e0ed8b9-804d-4086-bd20-4f85b9ab2f8b phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:has_gene HGNC:20626 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:c8f78617-6eca-4720-860e-487875e960a3 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:17661815 uuid:d84fbbe2-5083-4e10-9ada-b037643f9311 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:d9d8a99c-72df-477f-8de1-53cd0313966b phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:9f06117f-7dea-403c-a618-c74d81becab0 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:29e2ae55-8a9e-416c-8853-21a53a57ea16 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:e8ecc19b-3e39-4a33-a48e-770e035e14ca phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:3d5279ce-2dd5-4bec-aafd-16151f99298a phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:35ac2993-bf0e-421d-afdd-d0fb0d470fcc phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:d3a423e1-cbf3-4d86-ba0b-bc4c928db255 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0011382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661815 uuid:931d44eb-5a7e-462a-8c86-17af22882238 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:5d5b94d2-1f4f-4abe-bf2f-0fa0f8779a67 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:ab53a542-b686-40d3-859b-91114f16bb28 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:0d571d41-c704-4e71-89dd-d2e85ead5334 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0000376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:4aec2e15-cd94-410f-8af7-05532d19a7ed phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:b9348100-40ff-4af3-a10c-00985debb571 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0010316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:1bb45af9-1e5c-4ce0-a0de-b933cf3db8cf phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0002623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:7bdf6dcd-46d8-4c7b-a2fc-0cf303551acd phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0005290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:25abd2d8-c947-4420-a7d4-a6585992aba0 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:40eed94f-4b08-4699-af08-e3d250cccc6a phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:f5f4b4e6-1808-4630-b624-33b737b887bc phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:a32cc7e5-2b93-4ad3-aabe-daf507224e4d phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2f50b1ad-049f-4a40-a1ec-499ee916ff00 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:31a1172f-f897-4bcd-97ff-880817e32457 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17661815 uuid:2acdc1a2-9751-4e27-87dd-a0b37256bf76 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_disease OMIM:214800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:8a99fbf0-724f-41e2-81eb-c998472b8788 phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:has_gene HGNC:20626 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661815 uuid:ea679289-e6f5-4615-b9f1-3fb412064afb phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:dd88a53b-a11f-4671-acce-c7def932bf92 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:33ace38f-51b9-4662-91bf-6d036531d95e phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:574c7b2d-ae11-450a-9fb0-0e3ebf55085d phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:d7a0d1ba-86dd-4624-aab1-28bd23033b5c phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:98d3067c-8438-46fe-9f03-ec29ff527222 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:790cf0dd-1d36-42e4-950d-118699e6ac59 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:8f68af09-51f8-435b-8920-9fb3a2393c8e phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9f83731c-6eaa-4f1c-9904-03e3cfba1444 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:432cc999-d2f0-4a89-ba14-ab42053b4d65 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:666cc0b6-c679-4e8c-adac-1ad51f49d2c8 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:46c88c60-3fa0-477f-b722-2b5565d136a0 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9ee077b8-92f6-420b-a1ea-1c2a8dc03d9d phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dd93aa46-021b-49df-a503-6f1174cef9f0 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:eb24bd0c-4b9b-4d7d-9b7f-f0a1115346cc phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:29437ad2-112a-465a-8b2e-0e50799b0942 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:baf27dd0-571d-426a-88f9-14927a0b9d74 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0e81fde9-f442-43b5-a08e-b323aa17532d phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:95c95015-3157-4d92-85e8-f4b1fabddc60 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:654dfcfd-20f7-44f5-a57c-8871ce1009ed phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:71467f7c-4366-4511-a8e1-3077c4ef8901 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4d24ca8e-828d-457a-a47c-3de56331157b phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:508c31cf-25ac-477a-bcf8-e49aa1b25ff6 phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4dc05200-f3de-4442-869a-19c5abb84baf phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:22a50676-8ac6-4d37-a83f-ceb2f4c807bd phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:fba3e6e4-1781-4126-be5b-296605e3d315 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:3447f6a2-bcfb-45d8-be32-c4429dc6a27d phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:542bab42-2b96-42a7-b8ea-526dc6d78283 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cdedc2f2-6946-4cae-a4eb-dbbc0229e3ac phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:0cbd5333-f659-4fa6-9ee1-2154e81fc677 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:9eb4d8f5-1632-4dcb-b102-6f080c512f06 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:47ba3933-e8cb-4ae9-93a9-776a23d78bb5 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:526b9820-7478-425f-aa29-a1aae8239896 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3b141a0d-f879-4d6b-aff8-6b041af3bd25 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9b1b87b2-b1e1-467f-86f3-2d25057c6915 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1b2143ec-da06-4cc0-a700-e4373c30edfb phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:05ce4cab-50cb-4d10-838b-d9458e4f6592 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6bf0982e-0065-4a05-8937-33ab60f60155 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e87a7d8a-4a76-4db8-a4a1-01f1d447f3ba phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7f135851-8e01-4448-bf54-7a15974c82b3 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5bad5091-4b36-492a-9196-212d4debcd2b phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7a342ddd-32fb-4ecf-b4b4-8538416631ff phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8efe4e50-147d-4ac5-b3c3-16167bcf74b4 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9687ee55-5134-410a-8000-713aa534f427 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1204fa5c-5d08-4ada-aec9-68532f9b58f6 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:de0568ba-2852-4c2f-91af-25110a6f1b3f phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ad977aec-0f90-4e23-ae9c-aa5fe2565269 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a2f40dbc-a1c8-4dfa-8020-c46137aa45d3 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1de45963-2674-439c-a62e-0496a4acc89b phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e4f7fd48-ce78-468f-a690-02bb48508c86 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3fd32827-5ceb-4673-ade1-68adff409f7b phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d3776596-87a1-428d-aa88-0b92a61293e0 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e297b6a7-f340-49fa-b9bd-3ed2de4f0400 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5463486e-6293-466f-8dcd-f4fabef0565a phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e821844a-201c-41b1-8195-da9098bb4d62 phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:f749044f-e655-4c6a-bed0-b77a314973ef phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:995c73cb-e28c-46d1-83d4-576b7f9ae342 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:aeeba9ca-d959-4f6f-bec1-c6cce220b79f phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:c4c6ff23-40aa-4c4f-82d2-11deb0b50543 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:8923a8f8-576e-470d-a181-f015fa19f695 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9e5bf982-1394-4f9e-aad5-ea59e0ffb855 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1e1cfd7a-0265-4ef3-a41d-972111d57a93 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:2a2111e6-8ab0-4964-886b-8722f88c8a14 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c6267349-70ac-433e-b3d4-3d1200af9507 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5640e468-c720-4f18-9829-f895b44a0f84 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f1bf597f-9ce3-4cd0-ade9-9cbe99d8258d phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:995a3b61-11c3-429b-9bd5-dcffc1d4bc82 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:186392d2-2932-4944-ab91-4e877f6de632 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:417159a9-88a6-4ac3-aa64-53fdf15a9f57 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:78e8e4b1-65ff-448c-b078-16ecddfd2e16 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3130faa1-2345-4eb6-9d75-f6086710fe9c phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6767cb09-6294-4df5-a4b8-e56b0810a6d1 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2bfa1098-a0a3-4a46-b576-9af9469a67f2 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7b26d7f8-d52c-44a4-8968-654f017c77ef phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e22fef99-800d-4185-a54b-7a14cce2d04a phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:4d4a9103-0656-4efc-8bfb-ebd4fb399803 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:870af579-5ab3-4890-be08-e6721f4653bb phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b4969dd0-05d4-4d5d-b155-42b3c4650695 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:30766aca-fc0d-46bc-9ec4-b84b225c4cd2 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:fca22b01-c9f0-445a-b6ab-48e0ae03dbff phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:979b2063-4f7b-4d8a-9acd-cb7c5e8c946c phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:398aaf55-48e7-439f-874a-4d4eaa496b51 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:762338b2-1295-4d87-83d5-76451e0b8868 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3bbe9a74-37a6-4db0-a6b7-4132a326d5ec phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:cc8ebbc9-a0a5-4f50-9f96-a8d3bc5d427b phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:b4c9d29b-4a25-483c-9cc1-1b239a73e87a phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:52010775-bc5e-4cdd-8397-9438fec777ee phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:f1f2acd5-d00a-4379-8ff0-c50bf2f1c57f phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:73e31459-bf20-430e-a7f6-fc59396bc96c phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:5f36822f-a19f-4974-abbd-5ea408eb264f phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:5aded810-2b11-475e-92d7-a6ff6d684865 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9b822df6-f511-4061-b3a1-b73777bb4031 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9f1ac773-36c7-4b5c-b793-f6c3f20438df phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:2fed40a4-5708-46b2-ae15-52ffe69de2d9 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:4f53a8d7-d581-45ff-b1f8-16fa01e4b237 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a0779f8a-7fb3-4ab3-a736-36463d8d13b6 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:db209a20-2763-4926-a310-79489a13f16a phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:57296dba-e59e-4eb1-9242-b1e389cef3e2 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:47af66c5-ae56-414c-bcfd-ad359f163d6f phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ada106dd-e03d-47a6-b3e6-309417ade939 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d5ad9179-4ed5-44d6-941f-8b54ca2d4aeb phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:4fbd137b-fb9c-464a-867c-babff5581b76 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f11a8552-cd1c-4cdb-9770-45a549d36a97 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:766b6e0a-4b1f-4fca-aacf-153900262670 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ee8db1dc-3624-4adf-af31-4c123a495b09 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:55f21d0a-669d-4029-9d7b-2d2cc28503eb phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e2c6a490-cd81-4165-b384-ac1c1ab32d94 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:69ae8e33-9a27-48aa-bfe4-9cd061b3181a phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3a0c1e8f-2da8-45fe-afc7-92931d590617 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:03d5a92c-e43b-4d4d-932c-2329d73718a3 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ec585125-7602-4b19-b5ed-4167092785ec phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ff19d00c-f1b6-4ab4-af65-c8640a00d5b4 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:eab4c80e-499f-4cd6-9f29-29af4b843570 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2383ae19-cdd3-4876-9088-f810004e91ae phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:94e2ac11-31ff-482f-a78a-a17f0bc5b942 phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:319d17d2-bce3-46ba-88f7-22f01b8e274e phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:a0419dd3-50fc-4917-97a1-50ef0dbbdc3d phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:b3cf4330-12cc-4dd0-b580-a7265af2e415 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1ea277b4-92be-4281-b79a-fbb1bf72af78 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:8de26b9e-ac31-4615-9afa-9ac8841ef366 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:c8d6e2a0-6ac6-4e56-aea8-05efb989dbfc phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:dbd35ad1-26c3-4fb9-a009-98451f17b9f9 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:4a9fb547-7f71-4fa7-bc7d-d602e75039f3 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c45cfe17-5741-4a66-9b54-222e9a4b7fd6 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c0bee67a-ea0b-41e1-a0f6-e515a726a14d phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a83f4fd9-0e5f-4f32-a797-39559ba70069 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:acf01c80-470c-42ad-9ba5-ae6b0bb5ab36 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3ab77bd5-5345-4ec4-ade9-ff9aefd7987e phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a1218008-6d99-4620-9f67-7a7ff6a4d923 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:fc08b6f4-83d0-41ba-9dbd-fe00925611fc phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f4700b1a-f1de-4850-9b96-484f1c059fba phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f4497ffb-da71-498f-9f25-2fb43d741ee7 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b1597831-8169-498c-aafa-fd0aef5fcf03 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:71d86ff7-c003-47db-bd56-3b5046c8f7e4 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a4fa1fac-8138-463e-8fdc-d741230ceb4e phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c3acdf0a-7d9b-4a49-9791-a98b4d958804 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:90a606fd-cbf3-4ff9-9626-a31bc23e8e6f phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:52f2e7cc-f002-4f93-95cc-26529b3b84f5 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:4e5e4561-ebc0-43aa-a276-6c4debb06da0 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b57a86a7-e313-487c-b37d-6d9f796e3cfe phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9b427a58-7ec8-4c1e-ad54-73e6bb9dcc22 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:b4c8c4b5-d519-4926-97e7-558f2b4b3308 phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:a2463406-b79a-49ad-befd-880a346a9361 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:48c2dd9d-8058-4a3a-a792-2490a6e30809 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:68d07427-0e1c-42c3-8588-f1f7695bc553 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:fc1446bc-f540-4578-9245-5ad187e3a28c phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0002356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:8fda184b-5e71-40e5-aff2-ddbfa19f9c34 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:261b68ed-15d4-42ac-8d63-c3fd4b8a1846 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:9646f5c3-2913-4277-a329-695dd5e66771 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:edfedb2b-3f5a-4bd8-ac24-0649e88c4e20 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:1ff7ccc7-6223-4eba-bf79-10d1c204963e phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:179e28e2-9c93-4b5f-80b6-267f933523d7 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:9dbf0234-d087-40af-9442-ec180e0dd0f6 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:23ed3cb7-37a0-4de9-9f3b-cfeb1bfd3b83 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:e5da4b51-2531-4bbd-8f34-52323e93b5f9 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:4ecc7993-cb73-483b-97d5-8f9b0f80f351 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:43e8dc2e-4262-4ca6-b831-e491d17d0709 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:f42178d7-6582-44da-b93c-6deb0ac355ce phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:1e7135c4-f46e-4c11-8c02-0dbded96834e phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:ee4c8180-9572-4dec-921f-8a67a9c8212a phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:22330427-aa99-4ba3-bfd8-0c57096ae771 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:7584f229-fca5-4b71-b0ab-d64cef457118 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:6e45ee34-ddb4-4e14-afdb-9972caebe3b2 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34415117 uuid:9de17ccf-1977-4da3-808d-bbe877ced199 phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34415117 uuid:ad618e2f-4dad-4b75-b8b1-c05e6cbb4e1d phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0002356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:38441608 uuid:25409004-ab46-4106-baa6-c223c23617be phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:38441608 uuid:bcfcd70a-056b-4102-978e-5ee1c1629561 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:82a068db-0643-488f-8dfc-7ad761bdf1f4 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:9237c620-d046-40b6-8801-8fc5bc202659 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:55584a25-a57b-4748-b7df-c877f42892d7 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:7cd0f598-357d-4dab-890a-457227179115 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:fb0dfa6e-5db8-4427-8abe-f80a62b1e350 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:d47f1e90-69b9-405c-ae03-4274fd640637 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:6f8ddd1d-e3e6-4d64-96d8-46cc1b49bd8d phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:d40458fa-0c13-425b-834b-771027bde658 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:8cc36a16-6a9b-4b68-9c20-5f313cd64fa0 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:ce0481d6-d247-4982-86b4-67986a596904 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:e3bdb8fb-68c2-4bae-9285-d323f02c7ab9 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:86a2236c-3095-4680-9463-a357efe1b340 phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:8f468264-7472-49ea-9b62-784848671ebe phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:93298c4d-904f-473b-807f-9daca031c22f phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:38441608 uuid:81f7f275-dc15-49ec-8d1e-2e426163281e phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441608 uuid:9eb8d893-9fc7-4bd9-b05d-a201f566a87d phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:dc08e65c-e637-4eda-b459-371363b9fb57 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:d841be22-7189-4034-baef-55b18b3d3523 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:5f5a555b-d426-4f80-a933-093471da5cf8 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:84076d91-0a24-4bb2-9fd0-1c7982ed503d phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:669dd60c-b010-4cbf-9e8e-b67ebc4b241f phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:0a469905-a869-42d7-a84f-ada261a784f5 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9f683a17-8264-41a8-bb0b-089b1852bbfd phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:0e75ef1a-47bf-4a64-9688-5a0ff69431b7 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:f9525f10-51c6-4a9b-a20e-f16c2163812f phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:61af9f26-9487-4983-b97d-0a9852687f75 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e8a4db14-f3a8-4607-8d81-a598f1f2a638 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:2f9a71bc-b17b-49a7-9f77-79309dfd317c phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:467860ad-501e-4ef1-9af3-c9a91369e3bd phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:d9ce11b8-4be4-4592-96ff-9917f9b11a08 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:45f48d1a-132b-49b2-85e4-bcee33e7515f phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:be76a9b2-e76b-4135-ac6f-fa211b8bb7d9 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:19656274-ea7e-42aa-8397-8d28b53f8944 phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:90c9392c-3ed1-4b4d-8d40-83fbc5bef27a phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:12cf5583-395b-4f07-8389-47a0c5269a65 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:e4ca1ae0-3fcb-4155-bfca-e71d2f90466f phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:328f6b1d-2e20-4e1d-9d1e-676cb998de79 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:ef8ea22f-44c6-4d7b-baa1-7e1cf06f3535 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:d51c6f43-11e7-49f6-bbc6-dd1067e33fee phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:08a42ee0-792a-472a-8722-df31c932649a phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:a8293b07-9688-40f7-97b1-ca5945b9c9c1 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:b6385de4-2d0a-48f9-bbb9-f5cde34b5267 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:f4f7d53a-9221-4279-86bb-c8d60fadb5e5 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:758ed1cc-8ebf-4f64-85e6-18471f2e0525 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:bf8c350b-a8c4-444f-aa42-3e01e68c95fc phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c6ea981f-3ab8-4d5f-a918-f13c39ea1215 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:e3add4ff-da68-4e73-99d4-76b2599fd742 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:75bdedca-e084-4c43-8115-89d12582f367 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:21be9814-7232-4fa1-b889-cbef592ed931 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:ed359adc-3761-477e-b88a-d4e27d971138 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:92870246-72cc-4a17-9649-23deee60c5f9 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:7ad6ba22-7fa1-4e2c-9c7a-5a61e5b76c17 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:56322b32-ea4e-4c7b-82b0-cca501847134 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:10a4e0f5-4665-4169-b021-2242a9c2d165 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:b5804944-81e1-4ce9-961f-9d88f64a0812 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:169c9e51-efab-4d7f-a7b6-4833c0dd2bf9 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:ae893d40-a5be-4824-8905-8093f59ee124 phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:0934c651-047e-450f-bc60-de18207c6cfe phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:4429b05b-10ae-452c-bb55-9e8abe59ca79 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:587b3fc5-d807-4b59-809a-0971a8bac4da phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:1bf49575-fdd5-434b-a299-d38e0c933d03 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:19d75b56-74db-4068-957b-f6f8df62530e phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:67fc1505-d38a-4bc2-9c20-a9f1a4a4819b phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:02c8ccc9-b4a3-4937-b8ae-d1c80d0e8910 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:e58aff69-1bd5-4d62-a04f-528199aaf84d phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c09e661b-a234-4204-b0bd-6529f5242c96 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c97c9259-372c-4476-826e-a574c653660c phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:8c7b2c72-4fa1-494a-ad21-fc61818eaa08 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:38e5f5da-ddc2-4f55-bf63-c966e77158fc phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:2cdf7b69-398b-4976-8579-01cfeb54b8d3 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:7838bef5-e7a7-4b22-b498-be5f5b71e455 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:7bf60908-cbb5-42aa-ba19-d751dd222c6d phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:61f25553-6ccc-4fad-bfda-d360e8f16b00 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:ca62e90c-949d-4a38-93b1-d8d0a32bb2aa phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:30eb8121-0b55-4f64-8122-54b517d1c761 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:fdf7f93e-fdce-4cb6-9158-22600659c993 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:fc1e2030-1e21-45a2-b769-384c50cd26ca phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:09da8bbd-c435-47df-a004-32d0cb7c9afb phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:f4d8e429-bb35-4926-b020-8019106bc4ff phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:8785fab4-0ddf-4941-bdb9-be6af01dfb74 phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:78fb775b-cec9-4256-9d95-f0326ff115ee phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b60e2842-76de-4184-bb42-ccc69d07034a phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7a1e59b8-5956-4bc6-a6aa-899d62dfe4f5 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7a3b44fc-4077-415c-81c2-68d25c8b4ec0 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ea3e714f-9801-464b-935c-e54d5ab208b4 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5f80482e-2a73-41b5-98d0-caac25a66e44 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5bab15c0-4adb-4cda-81a5-f4b5bec6dbbd phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:033d5422-4860-434c-a38f-17b1a263e980 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:36c965ac-28bc-4966-9f54-edc152fb1208 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:96354e4e-a33e-4b2e-afa0-ec10efb89e72 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a23cd5fe-e4d2-4f6d-870e-7dc79bfb6aea phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3557263c-fe72-4355-8931-21a4a65f6621 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7aa0cde4-b7ed-4d9e-a31f-27c5734be890 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:43432ef8-6e7d-4879-ac9f-01395680cff4 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:409d48ba-3fa6-4ca7-86de-4164fe982b09 phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:658596dc-59b6-4fff-8542-2545bb3c6d96 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:d944fb61-e1c6-47ed-aa2e-f4419a0c8905 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7a1f4437-8aa1-488f-8b69-53b3f02bc0d1 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:ab2cb126-0a34-4cac-add5-05c7576d9d9e phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e0c85579-3d42-4dc9-a174-28227f6b13bf phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:04ce1e72-2290-4862-b919-c9cf836594ba phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7b91cdc7-c23a-4d2f-9ec9-c0db29f04af1 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:177a2f0e-3183-4172-bf76-8cf3957fc41c phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:3586d7a9-224c-4ae1-8418-5845d8752b71 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:d6ac5351-19fd-4dd3-93a8-a6ae689660ef phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:186d3603-82fb-412a-82fc-e7f4d269aea4 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:2a8140ad-230b-4321-b442-6f3bf65f758e phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:297a2630-3cac-4de7-bc1e-f42c6f65b98c phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:b1e8a080-cd05-4852-b533-4a7854e5a045 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:1166b947-c52d-486f-8517-4b8373ac6298 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:707920ff-31a4-44dd-9b2b-e7826ea1f246 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:4920891e-019f-4c77-a657-4603864f1e64 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:b1ce9d1a-24c1-4971-8212-80658a4953ca phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:de31f3cf-d18c-44f8-899c-738678b7a063 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e040dc45-edc8-40d7-b095-430ee3d4b28d phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:bec2a7b2-2ce1-4597-ac70-b28cd0d36da3 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:9c686b83-ab1f-42a9-9616-c9a2071e95e9 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:0a1b064a-bc3f-4260-b99b-caf9d9c0e62c phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:d2154422-066f-43f6-abf9-962659118da4 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:532723d8-585d-4c92-b989-ba592e8dad72 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:e909be1f-c11e-4a8d-92fc-9424471dda76 phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:7a196348-6f7a-4bf8-82cb-39e22fbf8afe phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:47dfb18a-98c7-49cf-b5e6-a97080876e38 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:fc76365f-0cf9-4ac8-b53f-34124e6309b0 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9187945c-d8cf-4a48-acbe-cad5d490e0a4 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2ae2785a-ecfe-4bae-ba68-9f18028e03b8 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e45f4dc7-31a5-45df-ac56-eaa43abbbc2c phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:13ace611-bfc0-479a-87f5-6ec808ab61f1 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:11446a7b-d678-46ea-890e-7091f61813b1 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cdbea94f-eae3-4549-8bbe-48a748dd1fdb phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:fb013b5b-b076-4b98-ba7b-d57ffe0a05f4 phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:9060f124-0bac-4c46-9fda-ea47c32de2ba phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:2b08fc55-11f0-4eb7-81f1-2b54fa55f043 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:31980904 uuid:31bdb414-3e5d-4422-8688-34cc99ef6493 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:31980904 uuid:c0fe308e-e1e6-4cd0-9fcb-2dc016432bc6 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:31980904 uuid:e4afd10c-c645-41a9-aa9e-87cc7a640f08 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:a1ce2b52-eafa-4565-880c-8cf650d14b46 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:4c8d9c3e-5f46-4832-ad75-ff2245ae3baf phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:1d04f1f6-caa0-45f3-a18a-405b7314c2d1 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:adc25dc0-1494-4886-ab24-2afbe71c4d9c phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:ea054a79-545c-45ff-8f58-7900e5f8a587 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:95db01d9-d1ab-4c0c-9db2-402841a73bd9 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:7063b2aa-f451-457d-8fd7-244f36b74ac5 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:11a6bdab-d82b-45df-b5b5-d91c8bc318fc phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:594b3b5d-f5bb-43c4-9917-c949b1416005 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:45f945fa-d80f-43b8-b03d-d3936e4c50da phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:4c17144f-157d-49ab-9318-4fccad5bfe79 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:55bb5abd-8cb4-4098-962f-77811df4e38e phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:750db7c4-7765-4d68-8655-2f90f209ef23 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:ae2f68d6-2211-4ecf-a763-1c68a958b364 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:36a8a5ee-c221-40e4-8be0-3db57d30f798 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:ff8dc396-89f9-42c5-8a49-9fe0e85badbf phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:dcbb001c-ef21-4443-9112-04f483f89f84 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:cc25df50-4656-495b-b29e-e105c112148e phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:f5cfffc2-a944-4baa-ac04-cf157d36f59d phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:524e4f5d-c8a0-435c-ae5b-fbea5b5d2749 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:031241d2-c382-4bbf-82a7-f55c4e805ee3 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:5c112ba9-a27b-4f08-bfa1-5e0fd057e6a2 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:f02c6ad1-a45b-4dfe-86af-fb33c4900be1 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:33dc0e00-cf6b-42bf-95c9-1750d8385b8b phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:52260742-91d7-4ce3-8ba7-3b4b6a3ea328 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:b82737ab-3e68-4ff3-af83-c06d9ac75a30 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:e14344dc-8152-453f-aa32-07411068f367 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:a9e930d0-43a5-4087-9113-65d9d02f2cc7 phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:eb8d8f34-a5a9-430a-9bbc-8c704d7f95ae phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:93ad6f68-4b6c-46be-92cb-d73109585025 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:a5f72d2c-5bff-4237-b028-9a5f09ae34b0 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:78345c09-1a92-4a61-a945-5e90b1c9021d phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:cb63e053-39d5-4e27-89f3-6e025c6c1b35 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:234540ae-53ab-4403-88b2-b57a5ba0787e phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:3edd60c5-7953-4f03-a232-a7d27f4c1b75 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9640560e-86f5-4ea7-8f18-0e8a0218d6ea phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:430021c0-1291-4f10-bd2a-3636b4a5ceba phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:292422f3-e2c9-411f-9fbd-772384229867 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:de8bad1f-9e44-48d7-9f47-ce03d3be138e phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:578ae83a-74ba-4e33-b1dd-07c22709e586 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:58d53da9-0b1f-4c7a-b058-1b81c41de221 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9a5f9e40-f560-436e-bc0f-bc194a27c7f4 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2fb28a4f-3e55-4acb-889f-7e36968a282f phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9d940030-4946-49c2-9a67-86d68a4b2759 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:13210623-9a03-4102-adac-5200b1716f3c phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:45362434-1452-4f28-9ca6-bd40a2f9e80e phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:817be414-7bb1-4808-a626-b8db1da647eb phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7dc615ed-a2e7-472e-8061-c91f255fa554 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3428174d-74a1-41a2-a99e-9db0ddcd676b phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:31689358-1f74-4088-b778-56a82fdc33fb phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:17104d20-2a31-46e0-b0eb-9a70570e48a0 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:67460a3a-6bdf-4902-9ea1-c74b346b1c6b phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:94d8cd81-387e-4ed3-a80d-72de9ffcb60d phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f0eb24ad-285a-487a-8dc9-44a9acdb8880 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:81bfa539-780c-4111-8539-a77484b7e2b4 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:7c27a896-6963-434a-bcdf-e9756e9aefa5 phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:134817f0-a194-49d3-a2d4-e18d496bde4f phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b3f73e30-4a58-4d22-88bc-376e6dd7ab61 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:04012ea3-3566-4421-aa45-3ee3f5cd2ec2 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:fff637a3-de6f-40f2-95ce-dfafa70b6241 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:9bd16895-322e-474f-84f7-67c29b8d9c9c phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:ca545914-37cd-4cdc-bb67-cb1830c42623 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5e174e2f-7d1b-4b60-9559-c86a17d6574f phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2f023211-c4bd-41ce-a1c2-be17f8987ad4 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f0388f78-7652-4059-81fd-3fb8a874b4a3 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ce7dd113-2c09-4d8a-8c50-6ad9d6bd1281 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:35d7d0ad-d3be-4688-b292-40361979d941 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ce6badee-b828-491e-8ac0-8166a2387414 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7c9f8562-45cc-40ee-81e5-99c9fe6dfb8a phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9b8e8dec-2bc9-4d99-a936-d749d69bc65a phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:aceef31e-3751-4b5b-a6dd-5421f29f1996 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5508a942-cbf0-4c40-8bac-2f335ab95a42 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a982adaa-e8da-4536-bcae-0b526d259660 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f0d4d811-5e28-4b19-bb0e-8692a03757a2 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6259a2a1-83a2-4443-878d-bd60f0b5a126 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c7057cf2-1890-4e67-943e-19a8774d9bcb phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a6125475-46cd-429f-8bc3-eac7e24ccf9a phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:438b5689-bf0f-4ea7-ac18-96b02d60d6f4 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d13b676a-d6a2-43b1-b8eb-0011eb6bea0f phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f04cfe3c-7d9a-4f2d-89d5-61093bfcf4fd phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0bb9c7c1-b52b-41dd-ab6c-9ff1a139fd2c phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9cd9db04-071d-4e69-a18f-57258a827278 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:bd2e8e1e-1693-44c6-a74b-899c8c2b5be1 phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:a0175fd4-60bd-4bda-855c-3286bee28edb phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:ef696df5-4167-4c8a-aaf3-a25284d7ba1e phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:165cfd9e-a93c-47bb-acf3-1f6f3c38ff7d phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:22f27caf-10e8-4e5e-96dd-db66907f8247 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:5e841b37-b341-45d9-a0ad-c19889c0b278 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:69573505-d995-4d28-8594-67ab42e68852 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4f612198-a381-4a4d-855f-fe761339da5a phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b7fcf728-28da-4eb8-9377-65cb6b0e2d0c phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:977b1b83-2049-46a7-9742-396884083a1f phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:16df6dbb-b7fd-4ec4-8f3e-1dd2d66b1c10 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:30d021fa-1e91-4ced-9197-5c292c6e700f phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4041d0b6-bad4-4344-8789-fca29aa8b2d4 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d9a07192-f2a0-4353-beb6-038a0b2bc19a phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f18e1fc5-e675-4651-a789-c85a92a112c5 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:765ba69b-221d-443c-9a31-fe5e4044e6fb phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3d9803ea-ae08-4cd2-8e8a-068cbc18c706 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:04458229-4421-44f3-addb-73b70e5be8b7 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:80d4bea6-6db3-4a26-8887-1a60ce4b8817 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:93f870e4-203d-4c14-bbe8-6f715385e304 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dfb73905-e7cd-4ad5-b443-6cb308efb95e phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:390bc5b0-a971-4a5b-94f6-bbb237334c45 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:57a68e07-1a52-405e-8c5d-cfc423dcaa68 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:12dcd20d-c14d-4a10-9846-dce088d72498 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f95229ac-df9a-49f8-a4b4-2b2ebbae9baa phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c9b4cf1e-5f43-42d6-9da7-a6f491130f11 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1a23a5f1-14b2-4b8e-809e-c49ea96d7114 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1c52a09c-258d-49f5-a20a-de67d5ffb0ec phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8d64a584-3aee-4b2c-9b86-5dc7d1aff0ab phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ccc5e8c2-f3a1-4db3-8ca3-236ff469886b phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dbbe2fe4-c288-4de6-af94-5cdda644c818 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e2a8e07c-5005-4e99-be5d-69201c2f0040 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9dd5c421-74ac-49e9-bac9-da2a375ee0a0 phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:01d2b3df-316a-475c-bd8f-2131e47cf53b phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:c3678c9f-4ca8-4131-967d-7a78b3b42d71 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:b4be4edc-02f0-4b67-b957-27aa30e19b55 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:6fa614fa-6b2f-4753-9ded-48ea5af62438 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7d37da48-35eb-4b99-912a-a663dd56209f phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7a24f221-0f81-4513-ac3e-38eb5484addc phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e988fcbf-b70d-4ab4-bd77-4c7369e685a0 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:1ec711b8-f675-498e-ab00-2f008c26552d phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9b0ecdfb-c814-4362-9c30-eabc74e1c5ab phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:d7d5e47c-c79a-470f-9800-1f51f46e0188 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:12e98383-98b9-4c34-9310-0afd040539bf phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:819affc1-7eb6-4639-a3cd-bfae07fc6a72 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:7c507628-52ae-4185-8d86-657379f11207 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:0d7c89be-47d9-407a-8a00-205d4d986b5a phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:7cca1b15-8e6b-49ed-9222-7d978344c0d4 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:eadc7398-e685-41cd-a560-ceb27e6dd137 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:1b26e7f0-61f9-46d7-8e3b-59655322874d phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ba0eeed0-f205-45be-a1a9-6a23aa91776d phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:dbf954ed-f7ec-466f-91e5-2f061e248cf2 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:07b755c6-b4da-4bef-9ce9-42d50089eae4 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:f2393566-9671-46e6-abb9-bbc1da210442 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:54fa7ac5-2526-4ee6-8d6e-50476aa420f5 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:78144d54-eacd-4c0b-aac9-f661124d9b9d phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:542317f1-e0b4-438c-a806-24d26fac8301 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:3329ddf5-eb37-41fe-a14f-8353404ab673 phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:c2e40e5a-ee2a-4548-afba-e0202269236e phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:5ca01303-1d9b-443f-9f30-dc0cf3c4672f phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:88794937-ec49-401e-86aa-99305cc32f84 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:0c45a035-9289-4ce2-9546-9a1ba741635d phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:7872e480-52f8-40a7-ae25-6532c490bc44 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:890d5644-bd0d-4acb-9e00-641ab5bf741c phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:7f6133e4-19cb-4722-a04e-0c545d21e512 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:26256b3b-5643-4db4-ab76-64b0882eef0e phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:a23b6e5d-2990-4334-ae4f-7701883de0b1 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c8e710d0-229f-4fcf-b014-f2955fc5b1b0 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f03ef98b-a0a7-46cf-bd9d-3ef021679f49 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f2aac846-8c94-495f-8374-21bd39f62627 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:941256d6-7a99-43e9-a8fe-80df8b0179c0 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e6343c93-0d7b-4e7b-9c71-f849c4a70e17 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:91c3fd0a-4b85-4c17-958e-dbc8fbc1a3fc phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9596c79f-c720-4983-9093-a7cae3b5d578 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:62e7df45-62d3-4e49-9e01-214bcd8a3097 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:582d1a87-db69-48e2-ac15-48a2f07d49fc phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ec516e49-8ef8-4dc8-894e-c288709de103 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d8d408fa-8db8-4980-b4d9-6b7ef8fdcb4c phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:74b7912e-f16b-4672-ab0e-1cf6643d0b4e phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:687847f9-362e-43ae-9398-e70931a06c6f phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c7afc7ec-143f-4022-b812-48779253e8b6 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3580333f-41a1-4ade-8c35-b52586a0a3d7 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:776547f1-acaf-4b67-bd22-d4919e07ae00 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e9178140-a7d3-45a2-adf3-41d49698d9b3 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b8c5f382-8afd-4955-898f-48e8cb426f8d phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:211e5d90-029f-4b54-b6fb-393ff014b4f6 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5455a6e1-3f08-426d-b62d-3538ef6c1f03 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:eca8116e-0369-44ab-93f4-226c8521ca98 phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:a613c246-b599-418e-b807-2421fcce9b1b phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:ceb505ca-f1c9-4ca8-b66f-5d3d703caa52 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:ea809a12-fe7d-4a1b-bdf3-9bd73e144c35 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:2b0b91d0-6623-4c89-822d-ed683b044d80 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:dd1ec24f-ac9a-4a0b-b106-cd08cea9804e phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:ceca084e-f4fa-4bb8-b7bb-1d7e61ec8352 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:0a35ed09-d8bd-43a1-9f8e-26660044947d phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:71d5a425-799f-4cd8-8ab9-d4e30e2cd531 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:bbb559cf-0cf3-47be-aa7f-90352c2a9195 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:dcb526fe-05d4-492a-86ab-c19aa5c8e7eb phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:c86dfe9c-ab52-4ca3-b1e7-bd3f420a3c91 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:45ddd1e9-abe2-4213-8e23-7676bf838d6c phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:922d5a0b-7911-4eab-a944-2c31b529a07d phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36731504 uuid:a088cce1-cf37-48c7-9e73-ae4a4c8866bc phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:4e17a392-84b8-433d-a283-3b8f9ccdcae7 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:906d6786-c00e-4b2f-b692-525d4298e922 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:19632388-7d3d-4c03-ba8c-2a63c62880ab phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:611c3ca4-0f98-4fb2-bfbd-236a7f826758 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:f2d82a14-b148-4e6c-948c-a9fb29fd7cb7 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:beb61582-1784-4f5f-84b7-01ab310c87c9 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:4ae9228f-9baf-4d1c-b27e-f385f0ed2b51 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:b1eeb54f-3995-4411-a3f3-32b074430d37 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:0244cd10-8d8e-462b-85e0-02409179e023 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:323dcc8a-d2c5-46de-a283-aca00a3ad26d phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:788b1aaf-f49f-425c-9308-df0973ea850b phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:d7caedeb-0124-4e32-943c-e5926448f270 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:7529114f-328a-4e23-a487-b962d2f5cecd phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:1138c605-3137-4cea-b0d9-a367a21d1b9d phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:62769c14-e4c1-48a6-9ecd-7d4b155d5c5f phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:c172ba2d-8ca3-415c-b790-605b9c825135 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36731504 uuid:858fef79-2479-4088-a760-d26bc07a3c76 phenopacket.store:CHD8.PMID_36731504_nan biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36731504 uuid:da653511-f4a5-42bb-a2a2-76bcc12bb77a phenopacket.store:CHD8.PMID_36731504_nan biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36731504 uuid:78328930-167f-4df6-900c-80416af8e699 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:444a03ff-e8ca-4e77-b3b6-04e7651977b9 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1ad4667b-4ac2-419c-b5d7-ce045d8aee46 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:71d329ce-5045-4ede-8875-dd5972ad3565 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:040ab24b-ed5c-4d63-b37e-6d86866dd766 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:25e18719-50d6-4fb0-b3b9-68b5abe123a6 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:99b58bbc-ab8c-4b12-a7d6-631a3d52aca9 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:afd1f69c-51ec-4495-8bd5-c953e1d011e3 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:a47762e7-09dc-49cb-895d-7caaab02db6d phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:464580f6-69f4-4c6e-aeb2-24a49d235bae phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1357b60b-cd4a-49dc-8568-35500a2832a9 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:02f56880-6458-4c72-9146-6df387cb3ab9 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0a49bddb-e91a-4668-95ae-de7dbf3c7b82 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ce3d16ad-6d86-4b5c-b809-06a90c312e5c phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:556479a0-8be5-4ff2-88f1-8c28429a94ce phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e1342b03-aa9d-428d-99d1-02b08a90a664 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8b03745d-5eae-4d43-9cd0-3ef55e3f9f4d phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a78eea83-224a-420a-bedf-2eecbf91dd33 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:17113d0d-a423-40bb-9ae6-8f08f29eb32d phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2cd6acef-23f0-4c0a-a383-71481be3bd0e phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:bc6722e3-5903-451b-b4b9-57f626402fff phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f7b1b5a4-ec72-4605-84ae-0aaf81b8feb2 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:13e31960-51fd-4ca2-a246-b4a934310585 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:59688a43-e5e0-4614-be28-c37e06fcbd1e phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8926fd9b-f7c9-4b97-981f-d0f51b35d7ad phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:25edb907-1e02-4758-90e8-3e9ac2087d6d phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ab309438-488c-42b1-ac76-f8a15fc0bade phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f6ffd0bb-f9c2-42b6-8959-96c760292d0c phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:aa98b5f8-48ef-4e5b-8f0d-f5b3acb1075c phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:1ec3e506-261d-4ad2-9add-096a206b6f3f phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:cef156e4-b1a1-47fa-8150-50ab08e54531 phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:ad50c237-160e-4de8-87d8-df29e0fbc4a6 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38441608 uuid:9a8302c5-2a0c-4f22-b9ee-bc4673693d69 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:cfb56880-edc1-49c0-9507-f5e9031a7419 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:410aaf27-39d2-40a4-84ee-07e7a700aa09 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:ac76bcb7-ca1c-42f5-a708-5b6b9d5f193e phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:68c5ab40-0a07-4624-84c8-9d9a8fe7fd80 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:8a605d4c-92d7-43ad-9715-78487db03190 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:d8006357-7bf1-44ed-96f7-642fe5a02d33 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:f4ee5817-45a4-430c-8c09-14e801f01002 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:04e706aa-a05d-4891-83bf-3cb89fccdb5e phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:a1f67290-1657-4c86-845c-28ef2937568e phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:032ce2fb-0d05-4904-af20-cefc0f798ae2 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:06d3aa1e-e122-411e-aa6b-1b46ad7543af phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:923d4b9f-e6e0-4b23-8383-62b33d10dac5 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:4d0d272a-5d85-4bec-80cf-49344b2ccdce phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:fedf554c-20cc-4533-8f80-d5cd6d5b2e0f phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:4a1ff2cc-6a30-4c54-bd2c-9fc89d6a3fa1 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:f6f3378f-4ea7-4680-9b01-edf0b1a000f1 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:4b3ae2fc-7bad-42ec-a957-8a210e8a43de phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0002356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:144070ce-4cf6-40ae-acde-8e9ac9a81d2f phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:5f80c24f-c51e-4a25-b97c-8c5b6533b39d phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38441608 uuid:de2f14cc-b57c-4f75-8b52-69c83fd73ba8 phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441608 uuid:4351fdf9-5c2c-4caf-89ff-6ab88080b391 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:8361edaa-1ebc-47ce-8258-d3b577068e31 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:6ba3f830-ae1b-44fd-bc82-c8956733798b phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:44438178-0991-4135-a0fa-1ad399247e5e phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:16ce6307-c2dd-44d4-8d89-6ba197ec28c8 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:bc3011f2-e521-4799-aaed-6c2438a954d8 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:9204506d-81b1-4c2f-b15b-c9a4b13387f7 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:79e46a07-ac66-43f5-90f0-81085cd6e0b4 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:4d74bf61-1f55-4459-8a12-2af8efd57d64 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:64a9e735-a479-4fec-8b7d-8de3084927a4 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:540dd941-e1ba-4a54-8da6-52f020043b3d phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c86c24ee-1545-4c16-a74e-aab989f02bf4 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:7487b616-3338-4e8b-b7be-f96a42729ae4 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:30c11656-1b80-42a0-8572-e9060840eff4 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:3dd3c258-e8ea-4196-b61e-7fa6a5e2049b phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:609e7892-4d9c-4470-a46e-1b2b7a199eb5 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c87b5714-3110-4448-9af7-e718f1411555 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a576db9e-1556-457f-b5eb-1336c36ef2af phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:79445599-f540-4180-a6ed-8c665fb4a3e2 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:eb2f136a-5b59-4260-b6f0-1832a60d9caa phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:109fc078-5ea8-4019-a1e2-9c5d821e2866 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:8880949b-ff20-46f7-bb46-22f76705e472 phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:18b823af-e08b-4708-8e0f-33e05926483d phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:86622e1b-df3b-49d8-b378-f0d14925ff65 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:cb27f34c-f7c5-48b6-b60e-46bac0c9a9e1 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:0114d031-4356-4618-b5c4-3c44d15e9a49 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:557cf9c6-a160-4b91-8d6d-6f21d54881a1 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:916fd775-dc99-4acf-83c5-26146418b3ca phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:dc4ce803-8fdc-486d-af3f-f24e36d52747 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ab40cd51-1b68-4843-8134-980c4e2ef79f phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:1d156418-d1f1-44bc-85f3-5cba15df5841 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:cc3fd119-c01d-4943-9c31-6168f81aa669 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:68e9faff-d58f-4619-bfc6-c009a57fa64c phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:5201c47a-fedc-4d0b-841b-b3de35783bb0 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:8863c378-f4eb-4a7d-a207-12829e5b3379 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ec6008aa-a985-406b-a7ea-bd8feb9b3b42 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:9ac22426-8ae1-4122-b236-54f49e3516a8 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:c9d770e7-63d8-41a6-97df-a4371d2326e9 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:d26c1fea-03e4-473f-a84d-88e2f9d3a5f2 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:3a8b11e2-9048-455c-a703-690c9aa50873 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:a906d8d9-ad08-4e81-838a-6a8b0f1c2592 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:8e0de76a-b228-49f9-8214-8d4d24bcdd97 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ac659ac2-fe2b-4424-9809-d7cdea620d23 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:a9a4c4a1-5943-4134-9c8e-5a7d68810b19 phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:1edb1954-68e1-4c15-8b4f-a0a7ce77ee43 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:767bfc8d-07a0-4207-b3e9-93e7ae9160e1 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:90ffeefb-bf43-4c5c-9f47-b02303d20ca8 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:51758d37-34e8-4f51-8f5c-f6476e01081d phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:be65d4fe-34f0-4d20-800b-1ad47dc90b35 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:093a10b7-c7dc-4b9f-ab09-30779b61897f phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:31550957-15d1-408c-8378-dd5b1b07d6c5 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:745dd646-67ff-44d8-ba64-c8483393aabd phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:5bc809d4-81f2-4f5a-be7d-9c8f06477341 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:b234806a-77f3-421a-abf2-045e5bdad0e4 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:14ccc50b-9c57-4c2a-8626-376b53448c32 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:d3af5b47-8e12-4840-ac6b-1fd2a65f24ed phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:8784a72b-0cbe-4d7e-8caf-33da075d7342 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:ae3fb661-a426-4555-a84e-26cecb64168f phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:8daf8751-17a4-4dc2-8028-76f51292e9ca phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a7e41ac8-b9a6-42a0-bdf5-d420009183f1 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:2e58c177-9f6e-4939-8f65-9744963376fe phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:43ff42f4-5954-402f-9e9f-94529f09a357 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:657b3f07-703d-4c39-b1fc-c73aae522ee8 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:255204b0-a7c0-4022-a477-573f9414bae6 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:59376f5d-9c4b-4c2c-ab14-5d7cfe58d2ce phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:eddbb727-bac6-4f7a-9c9a-f6d57dc1f1f7 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:4cd8a10c-28d2-46fe-924a-478ce7a46c17 phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:a3dab838-19dc-4850-b647-fd4fa8adb897 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:31980904 uuid:8144b5c6-5c5f-4cb0-81ca-22249c0f2f71 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:1c641d90-25c9-4872-a610-cd20fb7df98f phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:b96852cd-5e36-4c48-bba8-e61b6be38ccf phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:ac44be20-84d5-4e45-a526-2f5d07e24f46 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:b7281622-8fb8-4add-9d71-75dd278f40ea phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:05e0a6d1-2be6-4071-946e-af704eead2ed phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:087d2153-cb3f-4136-8311-b691f68bd693 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:ae8c9c38-39c4-4ce4-bbcc-22bc878993ca phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:9144ce0a-87af-4d46-a55f-1943fa8d6668 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:ffda09ce-b7f1-49d7-b679-782f06ea3411 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:78f77b6e-ec00-4c93-9990-769eb176555d phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:aadc3b6a-1788-48ba-9c79-52fe624d7cec phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:69bc5fd8-373a-4fb8-816b-4498e94ace8c phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:a6a385c5-310c-4dbc-b458-ecbb059025ca phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:73513615-d39e-4b18-bd26-1975d798617c phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:2d5d8d69-5131-4a4a-b97b-c67f4b166f97 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:549d2c98-0b53-48d7-a320-9673a973cbe1 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:b404779a-9cfd-474f-86a8-e24479513801 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:b4c19d8a-f776-42c8-a2f0-965771b58cfa phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:2f26ea68-7bcc-4aa4-90b7-72782777ead4 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:5cc40a01-b092-407c-b79f-9cc17103ed21 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:28d08665-b195-4619-a27e-a41ddf054706 phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:118bdcca-6817-4767-a600-b5f427a6872c phenopacket.store:CHD8.PMID_31980904_GX001 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:5bccfba6-85a6-4b62-8192-83f5f2c69884 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:a2778a0a-466a-4594-bf8a-2bae12b2b938 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:01e55535-89e7-4e4a-8402-5d91c3d4a82d phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:82c28b71-be70-4ba8-a3f6-aadfe77f922c phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:526974b5-b498-4c72-9737-868baa3cb7ea phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:ecc6dc26-267e-4a8e-964c-2cde0eda7efc phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:44350373-c796-41fb-8a3d-cd3e89fd5618 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:f3b1ac3e-d158-4300-82f2-aeacb2c15cbc phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:116a8eec-1386-4438-8592-3622864d2b9f phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:2833cdf3-0bad-4e3a-9fd1-a95a740d02f6 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:414f4b6e-9264-44ec-a7bc-072a6aa4cd9f phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c6b98a29-c658-41b6-8f97-440c7f681260 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:59fd1261-2c53-470c-971d-0cc4138112f7 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:702c4b5c-8eb5-4e09-9f57-2132f88bda0b phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1e9f6989-4276-414f-b152-9691721b9c18 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ffb8ac9e-aba8-484e-929d-48c90c0b6223 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9672aed4-23d8-4785-9bb7-a196f252bf05 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:066454c1-5876-4654-8d80-8e9e88414f50 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:21b44537-d6fa-4cdf-afef-b9570b73d1ab phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:fcc39333-cb75-48cc-927d-9a3166e1fcc8 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e61f956e-d373-45ea-9a78-62ba0f5510c0 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b5bd691b-7350-4d3e-be80-67fbd2eee0e9 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c3b7b453-c532-4639-bcbf-ca7de34c6bc1 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:82d6acca-8919-47ab-8859-301920f171b0 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c0587ead-adb6-4af7-9d45-7a98436dff85 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:712eca40-e99e-4ca1-8c59-2c5e92014abf phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5b7821fb-9ffb-4531-b518-03d45109a82d phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5ca02a81-66b1-47a0-82ae-ad6e44ff860a phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:67856ec2-d028-4883-8bae-4e5cffa02d54 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e1b29f31-5263-4418-a662-55212c3caa35 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:646b8ccd-7588-4580-ae79-6c693473aefc phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4161b044-3104-4f4e-a545-dbaec0b0a44a phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:69f5d219-0b04-448e-896c-be686aab33a5 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:768b71c8-06de-433a-b304-71ad18e85b5f phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:fc71e3ea-b7d3-439e-8920-eb5f6fdce891 phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:873bab49-0144-4a1c-ba81-9ae472e259e6 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7d3c115e-dee5-498f-acd8-5236b9ccb4e8 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:c4f5eefa-6721-49dc-bc45-f590ebf49d54 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:05c25801-510d-4c47-bca7-c1443821d738 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:1e55bbad-021a-4fae-8496-923be325b0d4 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:b842c356-20b8-4142-9378-6737d798297f phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9b009b3b-3c5d-41e2-8555-098c60ad13ff phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:3a2f41df-6074-4a54-9a30-f3beb56918b7 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:98e12f3e-47d9-40fd-b80c-28df554a22e9 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:c3ff89b2-f735-4505-93fd-1e4035dea83f phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:2c542767-9c96-47ba-a238-6132a9d3e2c9 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:7c0aef96-55bf-4eeb-b88a-6f2498f03ea4 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:fd3fe706-f465-4b58-8c4a-391312de2913 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:fcecff01-3928-47fa-a404-8ef39fd70201 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ed74e1d5-895d-40fd-8409-7a67e48c41f2 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:dd07b8c0-7726-43a4-800a-346042cf9454 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ae9e252f-340f-4e96-9857-3ebe52bddf43 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:2bbdd338-8ff3-4a25-b518-1c9ac422241d phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:52784a25-472c-4cce-b7b5-97fcf5b29b04 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:0ea41254-f967-4c1e-85ba-171cfe6d72a5 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:21ee9e9f-254b-4421-9fd3-1d8d390e2d75 phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:55f6c2e0-1d44-4d9d-82b8-6077d1078a7c phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:933b8c5c-d1d7-4108-ac1b-27ddb2155c10 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:8e91fb52-da86-4a9c-a4d3-50126f7a37ad phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:f8168731-1d10-4683-bf06-ce4211284705 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:38cd28f4-70d7-41d6-b0f6-7c7472f3f9b7 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:396d86d1-a4af-4281-b84a-a3ad53113109 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c67b6aa5-07b1-4b0a-a403-696895e24d82 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4bc2f701-1950-493a-bf2f-a06e96195e5b phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cb371f79-987d-46b6-b9af-5f282b35ef5b phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:32351fd7-d6d6-4f05-89d2-4e9b5d2ee4ae phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:592634d7-8088-49a7-a894-76a3cb6bace8 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:5ed3ba10-2933-4e7c-99db-b07b32862f84 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:2e83fbfe-5b41-453d-896d-43d588c9c871 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c016fabf-9d60-4cc1-b8c5-f3a0f177b38c phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c4f69eb1-dbfe-42ee-a444-490327c5a46b phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:33fd3d32-9a09-4df5-b760-e5f38c633df7 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:dc068fc8-0c52-47ff-9d73-6975b1052b34 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ecf6bf3e-36e1-4743-abb7-a9e781354999 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4b64f650-a2fd-478f-a53a-81354ea15b0e phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b8ab11d0-9ac2-4a3c-b92b-1e2de80043a4 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:78309206-0226-41f4-a394-48411e1e1010 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8240095a-c615-4ad9-a783-306c9f0e9bff phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1f9fc702-12db-4c8c-baad-49d755e62c0d phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e492bba2-7d4a-4239-bd71-54122c283165 phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3d1fe98b-3a4c-4ecf-ad37-45fd06673c3d phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:bbef809d-950e-428d-90c7-dfcc5966773d phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:26971371-5800-43e6-b682-ebb0750d3f7a phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:26ac00e0-b588-414e-9056-efa7acadf8ed phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:35130eb4-9b10-4e11-8b21-fc0010ba3b8b phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:8d461c96-c48b-45a0-9fe7-24d4c4b23051 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:19fb57fd-011e-4764-83ff-df8e7a063f96 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:e6691490-18e1-4075-aece-cf5a8834169f phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:2bfd930f-682e-4ac6-a279-536a11b056ec phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:adc87c55-d842-4e40-849f-cefa601538a9 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a4e246f3-a19e-444f-898f-3a31c0b8a19a phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:eadfa199-8b9e-481c-a521-6c5f0e94aa0b phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:fbd8c9df-de17-44c5-806b-585d12d19d4e phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:4156652f-d257-485e-801b-4bb430ee05d1 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:8b30a2b6-4277-4658-a628-772f700cc13b phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c06a49af-8861-4964-a37c-da082ef81534 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:73ac21af-cfb6-4b3a-901c-d8e6e51cd82d phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:aba33130-aa69-4abd-8a38-883bc85af072 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:411b9aa6-e645-45c7-834d-45eb2577bed1 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:bdec4cd0-3501-4b85-8f95-428cc3909ebe phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:f5cbd9aa-2032-45ca-b2b7-c90431e07e61 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:9165481d-f908-4b74-ab38-dd677b1fff07 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:57e29823-423c-4efb-8076-0c148be55bae phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:ae824e3e-54be-4b35-88a8-fc4580a77345 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:110bf856-99e4-4149-b087-7507199ce292 phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:e0c4aa6c-bf88-4751-aa67-65b439bb5fa2 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:e4d950c5-ecf7-4a65-bf7a-498e2aec858d phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:31980904 uuid:0e0eb8ac-a1b7-4af6-912f-1b42598003cb phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:31980904 uuid:b1c1bd0c-f55d-4ae3-88de-f433bd335f35 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:8d89dcfc-7470-42d0-925d-12347d6fd3ca phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:e89bc4c8-2fb7-4b8d-b761-50813ba95253 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:7ae0d6c9-8ddf-4204-be6c-c81150e69260 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:ed37662d-2207-42b0-93b4-7aa0da503502 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:da045b8e-9b19-4003-be7a-0e1f352b22c3 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:615cd37d-96a4-49e0-9559-2f7ac950df55 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:8c2e22e2-5067-4c35-9ddb-f7e016a9c264 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:3df92aa7-100d-4f65-8080-ad5399616d57 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:4f3d54b6-7760-4874-92e4-aba49e7d24ef phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:d83939e8-ec90-4506-9650-54c48f7588f6 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:5dc0a63a-9f48-49a9-a97d-a6e4ee567b93 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:c6502a0e-85af-4ab4-b141-b22686c343ae phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:b4b12d98-7afd-41bb-bcbf-bd35b22bd456 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:5e855669-6311-4c22-9faf-a2f70284f8aa phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:e77946fb-1ce2-47ac-a794-7ea8d46fcd06 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:5bee1abf-ab1b-4532-a406-3b92b9b76556 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:86511de6-c7a8-491c-977c-a9b1eb904b9c phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:22236cff-3f04-4975-b9c2-265a020fd4ba phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:732f613d-6384-461a-980e-be2bd8ca2635 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:aaa8f1ff-bd65-4b6a-a682-cade61064aee phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:02c77648-f8f8-4253-8eae-9fb31d2b42f5 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:07becea9-5866-44d5-9248-f95f835e6861 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:ad2dbf59-ef05-4e45-a4f4-48d4bcad1af0 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:79a86a5e-2b0d-44c8-bce3-cd79111cc0e4 phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:196d61ff-3ffd-4913-8a95-a5bbd6df0b2b phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:00ef65ae-cfbc-417d-9e0a-77aa905460b1 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b45582d9-6671-4c18-b6be-aa589065c473 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7746104a-4008-4ba2-b10a-be1bd3743e1a phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f58cd60c-ea5b-4039-bf98-2280424afc6e phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:759c714c-f075-4bc2-b8e1-22d1d88e340f phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7424ca01-969b-40ec-bfc7-ef6984784426 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a56048a5-7bd3-4f76-9314-98a1425779aa phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c788dbd2-2ed6-42f6-b81a-16a461903bb8 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2f4a019c-52a0-4a8f-be91-93e9bb9fd4d2 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:408f2359-3004-49a9-b170-f16e3b8c5814 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4827d95c-bc37-4a8c-a2e3-2711eca455a7 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0815f670-2511-432a-a815-85bedcf34138 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cf851d91-fbf0-4f85-bf85-936a94e51e0d phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:406d82a8-4ca7-4275-be7f-bebdb96ba6e0 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5dec6419-f33c-48dc-bc08-e4f1615fc628 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:71e8a4d7-c5a0-47a5-a37c-5f5b6844d916 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:25a64b5c-66d4-4777-9224-54349ad9a4b8 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:17d520db-6548-4fd6-b82f-fa4552b74c6b phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d542383f-ee37-44e2-a901-df8970495ff8 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e4ee3253-d378-4c1f-a619-fc858ffa5643 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4e55e3d2-a99a-4080-a993-63f0a184eff6 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b858a745-e904-489c-837a-75fc0fe63bb8 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6c4106f5-0347-4fcb-945f-1f158dfa9608 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5fa6bd6e-89d4-4219-939b-fb805a4e0450 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:3936d3dd-0da0-4192-8e38-1a8ca598d040 phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:7066dcc8-1d08-4878-a6e6-979e8f37aa46 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:3113d7b9-6de3-4ede-b497-823ff001d311 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e9fc3f92-2cb7-408d-b139-1a15f309e384 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:1ebd8dc4-da55-48f9-907e-ad5ee48e2872 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:50bd88a0-77e0-4cff-bdb7-af97e1ca9172 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7ca585b9-513a-4b7f-bc15-7c429c93cf26 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:f7e390d4-30d5-4e38-9679-d66866c129fc phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:43cde8c8-b338-4fe9-8a20-756f6a3d7b3f phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:f7361f19-f673-4578-8d46-2c6c15035aa3 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:191a51d7-5d26-420f-9d0f-9423ba090cf2 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:bf15b531-0927-4fcd-b24d-bdc57a6dd217 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:0d2df667-cbc5-4bb7-8895-f97d337737b3 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:52e58831-1441-4558-9bac-a95d12236408 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:6d412195-17ae-42a3-b894-63f734640ceb phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e236e52a-fdf7-4e72-84e0-5347e46e3d3c phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e6ac0797-48bd-4f0e-a7f0-f6665e3b340e phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:3cc5363c-d4fb-4beb-b212-ab535b6ffb8e phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:88b35884-6151-4adf-b06b-879374d64ef3 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:025207c3-6d78-4cb4-9b6e-67c5d4022a42 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:8df17e21-7322-42b2-952d-415ed1847996 phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:2e23db71-0da7-4ea1-9cbc-33347f4f690a phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:9ebbf834-90c9-41c4-af96-afb87221657a phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:34185892-b65f-484d-9c26-23b45b9afbaf phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:4e9b8a33-ec55-4d76-9c48-3523ac7d6258 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:266c0dd3-04a6-4142-9f63-531c2e20183f phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4b78c188-54b8-4e57-9067-342a0b09a234 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:76cea91c-8de8-4f61-a7fa-13b9bd0e07e4 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:43072231-ec56-4244-815d-28c0749814bb phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0d3ec480-6da0-450a-aa88-f17c38b64f98 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3b8ddf86-51e6-41c7-aabf-d497d05a60c6 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:60687694-ed97-4f11-9354-26d231d3537a phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c50b19d4-9fa4-4a96-8e89-9a31954dafcc phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cb72305f-6e92-412b-9a74-bf94370695c4 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0e74503c-c091-4774-a5d2-592b5a7dc34e phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8475ebb9-109a-4996-8512-b11d8bc565e8 phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:b72cdada-a231-4599-b790-1ebad60b3c5b phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:baf4f3a8-ad14-4b04-b3fe-fb0224c5293e phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:a15e9e91-7ef9-4681-9bda-e2ba7513de65 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b1984d94-afe2-440c-8ebb-27ab13d97f57 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b88415fc-c3e1-49f5-9358-805c307645f3 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1a76f03e-f281-462e-90df-9616cb196935 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8b3b9269-32c0-4a24-88cf-2489de4760ba phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9823ccf6-3cee-4eac-8c9f-8a8f07359e52 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ef2b407e-fc3a-44d0-93e3-9b50a725b9a0 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7d5f9709-9b6f-4d8c-8e2b-e3de655f036c phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3920609a-14d6-476a-95e3-6d8674f19f7c phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:509a2e7b-400b-4581-837b-9c5c4f06003b phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d0862abb-cc5d-41ea-964a-22e4149fb9b8 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:9b79c404-68ef-49f6-9501-fad407f09503 phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:61f270f5-3cc4-4cca-b8e0-64123a482bfd phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:4477678b-21bb-4e4b-a822-9877263b8d05 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:822bc11f-d470-4317-bd1a-73aaced837ca phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:e20e5296-e087-4d0e-aca0-c6ed5d52b5a9 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:315dfc7d-dc45-46e2-975b-d66955468160 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:e757f11e-3d21-4e1e-a0ef-371f381933bf phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:df1cc13c-014e-4ba1-8b0f-db2aa1bbcfa4 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c93f6a2b-ffe8-4e36-8bb0-f209ca3e7d7b phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a25adc90-9d01-4d63-b5d5-4d87835f8ea1 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:78474caa-ef78-4ab2-8c2d-e97e34290eb0 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:e8ef2add-7031-451b-b096-1eeb1cb314eb phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:0d63ca00-c18e-48dd-91b2-5c12f9c50bfb phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:f3340617-b00c-4c21-8834-fb281ff4a069 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:1297a87b-b81a-49a5-bedd-12b00000694b phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:f47e8d41-685c-4691-996c-66654e48c05a phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a841aeb7-4f70-4c03-81d3-c7568005e7e0 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:21b5decb-24f3-42f7-8a25-a63719c1dea8 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a014d013-fd9f-4e76-b030-8d6ccf959b69 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:ab2e1e0e-1151-45ce-8469-787ae6b39823 phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:b52cb326-be73-445d-8421-5757503ae72a phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:de6dfe94-178d-4af4-8573-d3e8cfb9d9dc phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:48425af4-c3aa-48d6-888a-feb0dfd2fe1a phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8b8c7b24-0b31-40e4-a5ad-9bbfce4ac3c7 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5243eef9-8dd1-408c-87c1-f4298b325ff5 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dd75fb0c-dc8d-40b6-802a-551f0a26f709 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9fbf422e-fdab-4e36-a8db-48f241d8ea6b phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:97895714-3790-432d-b176-27922806a72d phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9157c126-70b0-4a27-8bbd-a1391f3991c0 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:13120eb8-589c-44ec-a5e4-d9b9beb37216 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4d1dba77-9077-42be-81ce-ec2eca073267 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:a263d63e-ab81-40f1-b75e-ecb79bdf47a9 phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:ba4520b3-7ab0-4459-a144-27b88cdd361a phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:59ae421c-9bfb-43e9-ab91-f493995acff6 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:001ca835-1278-4166-8192-1d22f1ad3e29 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:8049e5ce-9b7b-40ca-891f-257b02a643ed phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:97cc8cd0-38c7-4884-ba05-805d2fb71b73 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:916c608d-d5ed-4741-b10c-37f26457df16 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:2f1cd1bb-dfcc-4d06-8b9e-c3c06e0556c4 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b48da570-ff58-410c-a78c-d89d85f03b84 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4121340e-c82b-4e6d-b1c9-7981b720caa3 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:a75c5445-49f6-46cc-b781-efb90abfcd19 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:917ab752-1766-463a-a422-8968f447ed3b phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3938103c-a344-4bb5-88d5-03ba55f12451 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:71cabe58-ffc1-4f59-a9fe-372b671668e2 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e970d3ce-cc0c-40da-ba23-36ec6394abe2 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:926b9332-a241-4add-b128-17f52c03b436 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5a416365-34c2-4930-8444-a0fb56597a29 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1aebb817-1905-4a7e-be4f-3acd588377dc phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:30dd7847-15b4-4e6f-95ed-797ff7b50191 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:115d7116-4dad-4b3c-a257-28c86126a74f phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cd4c1507-6366-41c2-8e3b-9259be864f1e phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:42df1d85-e285-4d71-aacd-026322805911 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d39f19fe-ab21-4401-977f-7421002027e0 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7d0e47f6-cec3-4c6b-8181-6c721e9d294e phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3ee31834-9465-4394-828b-5fd5a7c1e744 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e51456cc-93a7-4f8b-959c-1d44050d1aad phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6b00bf06-f9cc-4584-9248-c2b92e1970e3 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f25aa54f-81ab-4fb8-8979-6b571c666530 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:40ea9056-9f53-429e-95a8-e708ba90471b phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:82e35f47-9a24-44d8-af55-4b50bee0afcc phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:cee6558d-3699-4ac6-a821-0a57c806cb47 phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:c21bae7f-91d9-4214-a28d-8d9e45cd6201 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4761d236-e4bd-4a52-9711-f5028cf2aaac phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0da05426-e564-4e2b-ae5b-cfa34b28b751 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b6b4b1fe-0efa-46bb-942a-bbaabab3d713 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c7576ffb-a644-472c-a47a-19c6554a6022 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8939d3a5-92f7-4587-90d7-02e0d2c0c209 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ef825d86-7297-4449-94d1-f8de811343a5 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0afeed71-3262-4b10-9149-29e6b7cb8de5 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c5a3ac43-d303-4bfd-bdf7-234f5ddc0088 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b044b607-c859-4f2f-b36a-daca07b36da0 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:92da6312-d182-43a9-b734-b1ea1f7e0106 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:550bc262-c566-4e26-bda9-fa7a66369079 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7deaeccc-d3e7-4865-bdb0-518140d48673 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6bf3096c-6d67-4c3f-96dd-f52e50e0c77a phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:50c8068b-f26c-4def-9ab5-d5198218deb0 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5347fd69-56c1-45fd-a58e-2ae8a1515fc0 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2fcb7076-cacd-48b3-a726-3619de433749 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:20e44dd7-50f1-4460-b1bd-90d03768b13f phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d4e627d4-3cd4-4638-817f-7c2e47d11c1e phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:79e21f70-a77a-4e3c-816a-d634726fbc00 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dcc12344-02b6-4a97-ad22-59d15528c2b4 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c9d8c237-e598-4576-8af5-575169c3dd6c phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c95c429d-a38d-47fe-884c-d743e710b700 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:efa86303-3140-44a7-8ac6-dc75dd007ec1 phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:0ddf7008-3e9c-4aa4-a996-dc97dd028d41 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:e27cf88e-a296-47ec-82ee-8c04cb3ef83f phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:f7c34ff5-a297-4326-b98a-05468cd6182a phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:ff11be29-cec1-40c7-a7d0-6f068a8d6d71 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:24d9e5b4-904e-49bb-b08b-4ce45b82f97b phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:66eae682-2c12-440d-8fc1-e5fa2db85e85 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:19e4f191-6b6e-407b-9e5c-a3258da6995b phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:229e8412-d974-4634-ad5b-d6bc355669fc phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:99a42c70-1d21-4dfd-89c6-09105d613a40 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:58ffa982-cba3-4d39-a156-a2c68b1a2cd5 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:ad3a4ef1-4f00-4e46-8bba-b07b851b528e phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:f919a504-d6e0-40b6-b7f2-94cf4df166c7 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:eb95235f-ffb7-42d6-8f97-39f19ad22371 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:eb685447-bc11-4448-840d-c655698b5668 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38428335 uuid:7a7c35d0-92fc-4f2e-8d0f-793a5c3de04b phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:61644721-d115-4cea-9c47-479030cdcd27 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:9b1d2df9-f750-4135-bc20-8c018ac8fc76 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:0e49ab7c-62ef-4067-8072-bfe70e93ebdb phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:4ed9f620-1b31-4a13-9285-2c387a310d70 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:f2200435-75b8-429f-85f0-cf1d5c380f3f phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:29a28b3d-1f29-4af4-ba06-70a6e9b4decb phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:8d8f660e-2365-4aa1-96d3-a9e5f6b1469b phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:e8d5bac3-3dae-4d03-bcca-e7b3dbe1e730 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:1b82c10e-eeeb-4067-a6f9-c755a53b895b phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:f5526ea8-fc2b-44c4-92c9-6e0bcbc0c8a0 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:d1ecc12c-b680-4a91-acb3-b1cc9738d0a8 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:3405a94d-4e17-476c-8dee-69fe8bcd3ea3 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:e4ec92d9-f12e-47c4-8f60-9a3387585898 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:6c1b83e6-eef9-4abf-842f-9dbd252d7cd2 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38428335 uuid:019e6517-fe4a-40a9-9848-158cfb2b6d0b phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38428335 uuid:885d3e55-bbda-4567-b2e1-ae95aca47554 phenopacket.store:CHD8.PMID_38428335_Patient biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38428335 uuid:0966b06c-37c9-4181-b794-306a04b1ef8f phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:c5070eab-611d-49a3-9c7d-49af24055aa2 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:3667ba24-6da2-4173-bc6f-3ace238931da phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:44dbbd22-d66c-4909-8798-35f3f62e787b phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:a1f94da4-3597-47d5-acab-7ec9a2d9b6ef phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c1085c4f-68fe-4195-befb-c9d022005b17 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:b00b2855-c82c-47f2-bb5a-e5d8576a25d4 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:ef9df8ed-ab2b-4a67-9b3f-82294b0524f2 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:029ce324-3035-49d5-864d-c3fdd0026ba4 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:f9173a9b-e7fc-4872-b15e-7b51f04c1908 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:290250a3-c0b7-4f8a-acb0-1098e7958f81 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c33bdd50-b925-4e37-a885-9bb214692078 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:3b4b95f1-19e8-4780-a2fe-79b8703c285b phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:69a9ad6c-88f2-4daa-9479-a0d3e8ec6bec phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:0d501c18-1859-4be7-b657-975ad037caec phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c9ca9407-f00f-4b53-8ed4-c0bf766ecb21 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:6c6fb4f5-b820-4b41-b90a-767e69dd919d phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:46aa2d55-9a1d-40b0-ab34-609220972c15 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:86cf5bad-0648-4075-950b-f9f2e8fcb165 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:824f9a15-ecb9-4ba4-81fd-9c15dfaa04fb phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:542156ba-7212-4220-b471-5f489ac6e893 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:7c39a5d3-7c31-4637-8f90-6373901dce31 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:38db13c2-a3f8-46c5-a51e-f3c0ea04e997 phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:b320bf8c-15ed-4854-a567-4c9d96807730 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cb1c80ff-0122-405c-ab8d-2485edb5e250 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:10f66fd1-a460-4291-b246-a5a39651949e phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a0f95a61-ae35-4fbd-b71b-ed185422eb5c phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:17921861-c408-434f-8777-e7ffb5b31b51 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:327911e2-3926-46c1-bf88-8c60f266bd3e phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1b7bacef-09e0-415c-bc19-ecc684eda113 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e6dbe42c-b295-4e53-a22d-8261a60ef087 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cc64eb3d-dbdf-4dbc-8f61-195d3b8b1b02 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8f82ebe4-76c9-401b-9a38-481f3f89f4b2 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:886af73e-59d1-41a6-a43d-1d1d5e07320c phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e80e49f5-be6c-4995-b614-cb1cf53a6fc2 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a7e74a0a-1391-4620-b528-75c4096b0cb5 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:774d911f-8074-4676-a8a9-0dfd60624f37 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5735eb05-8695-4c72-bf8a-b3d2da367ec2 phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:ad67e272-7568-4cb0-acbf-ace22870260d phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:1a6b46f8-0071-4e27-af9f-4edce98426fa phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30631761 uuid:9eeff7d8-f53e-4a1e-84e5-295e8d3b5646 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30631761 uuid:c4cf157f-1e60-4eaa-a13f-03cb22642f25 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30631761 uuid:6823b0e0-3203-44b5-96c4-7bca4516133d phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30631761 uuid:f143276a-5d13-4afb-b257-6d53d2877a94 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:faf4b71a-ccfe-4f09-b56e-a8054102043a phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:dfbde487-4d60-4348-9808-4fcc74ec5a33 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:52ed5044-6d32-4cbf-95ea-6dcdb1e32abb phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:6bdf5348-cb6b-40fb-ac44-4c55b3a37c2d phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:7d0f7152-2a9c-4b7e-8533-d03f96c9fda7 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:2d339137-eaa0-42ce-8278-aa30ca7318a1 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30631761 uuid:3f142f5c-6f2c-4bd2-b4e4-dc6850385920 phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30631761 uuid:c788db96-8976-4424-8486-984f4046b41f phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30631761 uuid:c2bab957-6744-499e-9ead-22865c367288 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:bef838d4-9bb7-41d2-a7d9-f8e315379d39 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:fc002787-5ce8-408c-96f9-a10357eda607 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:3cc6ccbf-05d1-42c6-a428-fcb1561af74f phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:54e02378-6e0a-4131-bcfd-56f5248a22f9 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:0784ac7e-1f07-40bc-baa6-54d44bc3627e phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:402f5bae-9107-444a-9514-8115dc41c74b phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:3d7df275-5d60-44f7-bc79-a2050fe737cb phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:11c1e4d3-4875-4658-ac9b-9790365df6b9 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:2346d4b5-2e41-427a-80d8-17c0089a38f7 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e63564a2-49db-4aa1-b7d0-1a57d54d6850 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:f96ddcca-413e-4b69-8a9b-42dcccda6027 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:5bb8ef00-a3e7-4b85-ae3e-c58363a786e0 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:71899155-f16e-4459-8230-8e17c9227011 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:24d83b9f-073d-4c93-97cb-54d6120864ca phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:dfe11411-0e6f-4d29-81b6-91ae62fd09a8 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:34e89d49-6fe2-4c0c-9264-f2b74c2744aa phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:91a13823-cccd-4574-aa54-ea927f5cd78c phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:8269300b-ab87-4524-b6e4-e0fc6e6ab130 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:dd9ab2bf-569f-48e8-9086-5f5093374137 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e3910526-e681-49d5-b126-e1e7a385d8b6 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:087f5daf-303c-41e0-b524-7bc8b4cd0d3e phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:4399c821-c81b-4958-b86d-fddd323e8e77 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:867e3824-43bb-44cb-a891-3d659cac9ab1 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:d4e62fce-808f-4b95-881b-255e50544000 phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:a81a1210-f5fd-407b-ae95-7f0185e498dd phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:fe153ab1-2494-4486-96db-02539fe2384f phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:2bd7c739-a778-4299-9480-5641a3c4f5d0 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ea17a9ce-b5a8-4378-9af3-2bfa1d36175e phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0ca972cc-16d2-45c0-abe0-59d626ef0dcf phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7cfdd341-9c97-4cb4-bd7d-7919f18e7493 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a5732a8c-aadb-4268-b748-44b69513b204 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f3b044da-6ed6-4517-afd8-5be50d620511 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d0405aa4-4f2e-4a6c-ae3a-2fd029074809 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d78aaac8-9cbd-4603-95ca-1466e4863829 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9736bf8e-416c-42b8-97bb-e757feee8c72 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:7529678f-0aef-4914-9942-458a44412603 phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:3ba1208f-b4ad-45d4-847a-fb3f7fce1d04 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:bc792bec-7a1f-4f61-a235-2d8af441fbdf phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0012433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:266c949a-f809-4453-bbc1-4380879f796a phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:e7965bc6-82d1-482f-86ee-a023244f21a3 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:161e65b3-4caa-4b04-bd33-c54d4a29164e phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:30920841-69e9-4f21-af83-f10d6fe5dd57 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:62e2ba9e-6c2d-4d39-938b-b9e721fe5808 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:75929e75-17d4-44cf-ae0d-7a72ad120ffa phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4f56aa1b-ed53-4004-a582-bc0220b73edf phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b2106dd1-2ce9-4595-9a5e-a0065ca9352f phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:94a22c7f-fc78-44a4-99f6-8b05323a3e17 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ee35cc18-298b-4688-a1bd-ad883c707e97 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:eb8e8161-3340-41b6-98d3-fc677176c04c phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0818d0ed-d41a-4b7e-abe8-14a229d0109f phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ddfa08de-4b27-45f0-a332-4cd9481848de phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f7509df6-cd0c-4b68-a43a-a4d5eb52d90a phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9a69f41f-3f88-48af-9101-9eb80f332356 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0dba7154-0c95-4a27-820d-ea2d2444f5e7 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:742fd291-d3a3-40e9-8cc8-a1cc76316e18 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1ae1352e-5b6b-4ae6-995b-654aeed47d66 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:89ceb978-a78c-405e-8e8d-b744c6aedde0 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e6447f11-c21a-4e26-a426-d0f3a39cc088 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0b1f36d3-cecd-4bbc-9df8-3256337abecd phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:94f32dc1-9e45-4479-a6cb-ec571b624948 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b02cbba1-c6a8-4d47-a1b6-1f0a5fcca365 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:373f994e-8096-4255-8a1e-cb77d26ddb15 phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:aaeeb4b2-8b2c-4360-9b64-40b06f9dd2ca phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:6f8125e0-fdcc-4ec5-ae56-b68c370d1fc0 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c627c0d0-ffcc-4acc-a76d-db6b5a95be6f phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:38c2c3c6-9b97-4b72-8ffb-baf5465c4614 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:f3485738-5fd2-4a97-8e12-d2093262add6 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:d2ee11c8-f0e3-4101-bb31-9fc4b677fdae phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c081d949-f2df-46b1-99ee-c2aae9572ca2 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:10c7fe3f-7c2d-422d-919f-476eb783acdf phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4f983343-2f2c-4af7-8b2c-b48b6b0343c5 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a4b8c519-2db7-430e-ac80-b52323f348d1 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c2f20c4f-5b25-48e1-a6ea-7e86ab86c39e phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:416b9266-4faf-4833-a055-d1836d6dd41b phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b9874fb9-3532-4772-adbf-91fbba7b3759 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a798b977-ac7c-4345-92f8-b4a62a4db5c4 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:40adc14a-6740-43d8-aafc-238187f6d31d phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:aacaff86-7296-421b-a91e-eb2b0f2694aa phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c6aac0e1-0c92-4f39-be23-93e1c4360a64 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5a1ba9ae-dd98-4b01-921b-89234078f22a phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:21246898-c767-43c7-9b63-4b1552586829 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cf0d12f5-b0c3-4742-b6b9-056567d03829 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:22ffd15a-6fad-4d1c-9b97-645b8f71a88f phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:58d91879-0aa3-4ed4-b2ab-856d1fd4eb96 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:661a8fce-7866-4888-aac0-1702157ae497 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ab2acdb6-59e9-4bbe-a030-4e80e32f58e8 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ac875ebb-3ed5-4106-a627-871e243f8e82 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:306af154-6661-46ce-b3cd-e8fbc771041d phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:bf1baaee-1960-4d27-aa69-72416510b87e phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0aacaee6-6822-4234-9314-0622edd42a03 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c9d0a154-20d1-4115-9f9a-9dc50843a1c5 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:0686fc24-1cb9-42ab-ac55-db7e4fafe9c3 phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:2ddee9eb-4717-4905-aae0-ffa0e2e344e7 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4926cb08-040a-4586-bea3-a9f78c4ddf32 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:afdc87e9-1eda-462d-8e76-5c836058a123 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:52ac14bb-36c4-4066-932e-e287e1f826fd phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3cac1138-a1a8-477d-aea9-0e478e4f677d phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c0b59d9c-b0cf-4e00-a4c6-10bdd4e85fd7 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cca31f04-ba8f-4f34-abd5-83523ada863c phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b8813e20-d198-4d10-be8a-64d61b41e94b phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0cc8c3e9-9bbf-418d-9cdd-95b30bd9eea7 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c4466660-ee09-47eb-bee3-15edc0e85def phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a1bbe144-37d7-4d11-9a8e-ea0083f5dc3c phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c84c0cfd-f5d4-4a4d-a7df-787b8897d67c phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2b2767c8-77a3-49d7-8643-ef61d4526e34 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:34a0ee7f-9a2c-486c-beac-4d1992383d5e phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a227df30-24d0-4d54-a9eb-c31054dd5723 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d574ae3f-754f-4700-a65c-127bf8ae2074 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f9dc22dd-46a8-4bf9-9a88-71efe5c0967a phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f700ba68-e5a8-42fe-8d83-a6ced1049468 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:56ffe4f2-2dc7-4bbd-bb1b-11c687540b49 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1549f661-dcde-4a85-95dc-97a4d634d536 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1bf1bca6-2788-4503-ace8-38d30fc631f0 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4f8b9f9f-d91e-48b9-842c-35c73122ec2c phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d9119a28-9048-41dc-a641-d2e9b3d5116c phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:38828e6a-5b6e-47d5-af75-248315fda02c phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:58223c8e-188d-4927-be13-e7fc529c0c36 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:68ae2764-27a4-4a81-88d1-e94868a829c8 phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:05a9f4a4-d6bf-4017-8ba5-2353ee768f57 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:e5a362c6-f4a6-42e5-b0cc-65c4e3f3505f phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c49163d2-e233-4bd8-b880-6acdd5560a30 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:43c6fdab-aa9f-4d43-bc9e-4e0d2bb6d9b3 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:604e88ef-609b-481a-b242-b53bc3f7eb72 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:521fcaa9-891f-4503-be2a-2e127a96c2bf phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f5668e75-a0a8-439f-b12a-06f3637eeac1 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6b0549fc-7659-4122-9936-5286c78230be phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8573e2a9-c049-4a87-8651-7c54c78bd970 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1765e4a2-8e21-4647-916d-4dedc33143e5 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:11098cb8-fd5d-4c9f-8859-c29f5c5f74b9 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e308e08e-e150-4531-a5b0-4075c15caf10 phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:8becb96b-6e45-4fca-8fca-a83dfa8e581b phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:17bc7148-45d9-4156-82b8-270f20d00763 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:1b3bc6d2-3e42-4476-9744-f4d0c0de652a phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:15a65293-77bb-451b-9782-5ced56f22206 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:299908cc-8cdc-42b0-a1ab-43cc4246ce32 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6de982b3-db6d-4ce3-80dd-ba789e42ca77 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1e0b1e1c-0b12-4f59-ba32-b7c7bdd96975 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2c294943-d59c-4d83-b954-2c622c9928fe phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:86c3fa3a-a842-4050-b874-551485b0b48e phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3efaed88-ea64-46e6-a813-bfb7704d4653 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ecef1b32-7c5c-4bb9-bd79-69774a98a196 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:561c4742-6d61-43c5-bfb8-7b4e9cd34c83 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3b79f05d-cdec-4250-bd51-9fe74c300445 phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:cae1a75b-3d33-4402-a6e2-dada81b411dc phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:3fc0ae9e-e22c-45cd-9d9b-e770859ccbc3 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:7942fd8e-2406-423d-ac06-b45831b57a38 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9ed96482-1c10-47a4-a8bd-6d54932ade91 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:ce8d68fe-c8cc-447d-b83b-2089b8f20e04 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:a16c3b45-c617-431d-bacc-364cd85f5878 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1eb4668f-0b03-4a54-8d21-09f1db3339b9 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:ec204be0-3738-4140-a098-511610a2de5c phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:deef53c2-48c6-4607-b5e6-53c848dc2734 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:6187e383-83f6-4f03-adff-f7b308c834e4 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:a39d9ffe-9c87-41b3-8df7-485a4956bf59 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:0855cb38-e498-460d-b6b3-38e2785a7f5b phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:4b2c5215-6fad-4d17-88ba-6c653c2f4864 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:46b6507c-fc79-4499-942d-1e9bf8cbeba5 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:aab06b5c-31f8-4a05-9a9f-055059d41efd phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:516938c5-0499-456c-a9fa-16bedc3ebde0 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:11b67198-521f-4b12-9115-58bb052662b9 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:89ba8702-c534-4eba-b82e-eff692bd10ec phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0a4246d7-dbce-44fc-972e-5ca07e6be61c phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:1039c83e-a155-4e37-91ba-e6083d4a0a87 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:32995681-fe4e-4066-a182-14e63c5a6167 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:290078ac-7836-42d1-a7c7-cc084dbb6dd0 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:217c4e10-8e01-4c99-b7df-2f95e17802d4 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:23191763-cb8e-4d11-a1ff-2eee571781cf phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:58fea52b-870b-4a4e-96a2-f740d5196b5b phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5aed4a30-ed6d-403b-be67-483174e75604 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:81ec3d81-8ee6-42aa-aaea-294dbf9ad65a phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:31d43250-0bea-42f0-9ed2-caba3c0ff5cc phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d8ef076c-c90f-41bc-b7a1-30231b2673d1 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:4e294438-4e55-443e-9af2-e72d2204439d phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:aa2327c2-f303-4820-a1e9-7e29a66173b5 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:8da67918-26f8-44c8-a100-41f18f472021 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:c0a3482a-0135-4961-8260-43ef255a819e phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:aa7ea8f7-c608-4fe1-a967-0381b1d80326 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:2c85f499-5299-4cd6-b724-aa26f561176b phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:abd5986b-115f-40e0-8ea7-0227f5c24072 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:28fc85f2-c7ad-4d51-8a24-2052136bed97 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:5cfad891-9552-4543-9615-2e3b16acad45 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c4449da8-9537-4c01-89a4-932d6b6b33d2 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:37878f0b-1514-497c-bca0-69f83bff8dce phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:33342790-e8e1-480c-9cf9-fdc249f2ace2 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c34da8d0-9236-48a5-a3f8-541878d338d7 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9a887c9e-ae64-4393-ad53-e93ac6165e11 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ea670e2a-c1a9-4407-a5f5-67dea200dab8 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f453e162-b0ff-4b7f-a611-206c318c7226 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:50145bde-e906-4c06-9777-913b85960269 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a2d86fa3-1761-4fd1-8c3c-2f68e6f339a3 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9d8c9e6c-48ea-468f-ad0e-909247397c86 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:23809f10-427a-47d6-93e1-2b26936709fc phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:dfe1acb5-d416-4e26-9ee4-d9661aeb1e35 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0fa1a1f8-bd7d-4c7e-8ed3-1d87d747c125 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6fdc5612-de60-4779-bf3b-9692feed4f83 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f3b8d959-8882-4705-8fb5-f221bab1a822 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5eacd631-d849-4d85-81bf-1a452c5bd572 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ed91c0f9-c0db-4d44-b64a-ddd85d565218 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:cc2f06a9-a380-4dfa-98fd-d81673460954 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:5cc823a3-5974-4df5-8ad4-e61fb4120612 phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:8e1564d1-fdb2-4a5e-a3a8-4dc7e45a61dd phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:b49e9047-d7a9-455a-a6b2-416b6caea5e8 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:278f4006-249d-4511-a9be-e43ac5119372 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:7ba37b0b-96c9-4de2-a0be-df2e3b4331d7 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441608 uuid:acdc2d40-acaf-4c93-9857-1b5b6cb6160a phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:99bd2455-8384-4bdf-8933-777cd55cd3fd phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:a77037f5-32c3-4bce-b1b4-569ec1103386 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:6721ad1b-fe18-489f-9b86-730589c63b8f phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:c76bb344-97a1-4f99-8a90-9d6e24c574c6 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:202ba654-79e4-44e4-a8aa-8b6e18a3dfa7 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:857fff15-81bc-4299-a43c-477885aadc26 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:116018b1-c6f2-4abf-858b-a9cfb8c735cf phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:8921ac7c-6788-464c-84cf-4c06f7be7297 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:a24a5ea9-d404-4a65-ab85-e9b105c3f483 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:77e04897-f9e4-4837-a838-bd3cea0c2bef phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0002356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:c663157e-7f83-4386-b971-49fbf976dc85 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441608 uuid:99070bfb-f856-49dd-9a16-37f4903acd91 phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38441608 uuid:6bc608ca-2c07-4bde-b15a-1880b33fb7aa phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441608 uuid:78350379-9a65-4ff3-b138-695e848a3661 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:6ef06206-5d6e-42f2-92c1-6d6923f17439 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:2a9f03d8-dfa4-418c-a9b8-75dbc03f1d39 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e5a1d586-18f9-427b-bd6a-fac46ea28997 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:091b0f10-5b38-4f8b-b828-46cae3456e5c phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:83c7e2d4-69b7-4b8d-93f1-418082223aae phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e293b75c-b31e-4374-8c06-1c503a16fdf1 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9492fe07-2ddc-4dba-bbec-0254774a4366 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:e608d67a-8427-47ae-aed9-9af8a2b26e03 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:a3cbc226-c982-4d88-a766-9ed25d23cc21 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:3b81f698-db2b-4361-826e-4db4f51faba6 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ff2184ac-aa56-4d3f-846a-1a8a99b720bc phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ec3e5e8a-b906-4493-b53a-9d8ab34c0030 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:352b9386-e2c7-445f-8407-db6408bf582a phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:29dbe051-cebc-4483-a347-b85f9b47fd4a phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:04117810-c996-4cd0-8461-80708edf2c94 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:501d9269-3539-4bfa-b9c5-7b1580b5abd5 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:8dba3089-0027-4417-9f81-ab77d56a575a phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:dd3f3a99-abb3-4717-84c3-c3aeaa21593d phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ca785e81-9036-4d4a-ab9e-769165bb43b7 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:472697dc-ab43-402d-b3f0-3474921129ca phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:8c710e2d-4cba-48d2-b111-20911cac0626 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:87377258-6200-4fe5-b1f5-6f18ad54761a phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:4eeb112b-d1ee-46a0-b75f-aabe7d189ae9 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:d41bb8f5-89c7-4e3e-a14a-b03f86445f2d phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:95d2b942-9da8-428f-8226-42b637b022d3 phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:03a94ba4-0a7b-4fd0-9eb6-a8d3f5b7ae20 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:750f885b-ec3a-42dc-87e1-79ada61ca160 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:13b21e8a-39f5-4926-9552-7067b2c912c2 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:4000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:9a963bb5-0fba-4643-bf91-46de9a19665c phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:62d7dca1-0583-4544-afb9-93c48526c7d6 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:9b00bbc4-fc80-4e87-800a-681068a2f04d phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:9a1359cf-7526-4c3d-9a1b-f4e6e510e99a phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:6e6225af-273c-436e-ad87-2e7830777e29 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:c88d6a30-340d-46ae-bb43-eb8f394e6cbb phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:3914dd03-9c30-4613-853a-f9a32b6d5973 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26789910 uuid:540f58fe-f1d9-43a5-bcba-9d2570bdff3c phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26789910 uuid:eb810a7d-49a8-480f-bbc5-3f830725fbd8 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26789910 uuid:a08e09c2-f94f-48bb-b53f-b1a745a8c341 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26789910 uuid:2b374bf1-dc71-4ee2-b45b-a4a0e962ba7f phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26789910 uuid:415106dd-fb21-4f5c-8257-da8a2b20d479 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:26789910 uuid:a7505c57-3198-48c6-9aab-efd6eb28dc50 phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26789910 uuid:2a32dd36-08e6-49a2-96f6-b4392e7b6636 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:b9f96801-6569-4ec8-98bb-7b9e60d48810 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:8cf6a13d-fb6b-41d8-8a2c-ddf61f5dfd42 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:2aff51c4-48a0-4368-bbcb-f07d7126872d phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:89d9240a-6fe3-4acd-b9f6-b4367825acb2 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:40bb2f5c-9c51-4dbb-b013-70c49c9e78f0 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:0c5f4f95-d0b6-4e97-85d4-a7f916a9961a phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1d1b9a75-a9a7-4c84-8c09-f34168d1b6e2 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9a157630-a11a-45e5-98e1-4eff188da046 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:b45f5f95-8704-4192-9931-c37fd30946a0 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:c3e74a8f-cfa8-43f3-b3b5-6e6ba81133ed phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f661c41a-8e44-47a5-a030-0fdc413cbbb5 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:cec27969-ab33-4334-a603-6042c4810467 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:61af97cb-4b23-43d7-962a-2590ccde30db phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b203a6f3-46d1-417e-bcae-ca853d9c29d1 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:68912d7e-eec3-4884-b2a0-3e5ab7800cb1 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:bd8cf039-1027-41a0-8087-2ca677304714 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ea59ae46-c91e-42c5-9e88-f9c71aee027c phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:113f5a25-50a3-496b-8dbf-94f09a3ea39c phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c26af021-b120-44e6-8825-47e409a69ee1 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:10fc00f5-c3c0-4079-a213-11115755ec1c phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3eb8b0cf-2500-4e0b-8f7c-7afd0331f929 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f73ff95f-a783-413a-80c8-ebfbb1d30800 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e8a4e6fd-f562-45e6-9c93-9c1d827db190 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:210bdab1-f0e0-4106-9566-b4a41af29228 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7e01493c-61ca-4122-b594-8efb4a4a5cd1 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8501ab1b-82d0-42e1-a608-d2568717f10d phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:4b552d7d-9aa5-4b18-8dc4-8c5496bbd7f9 phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:e9fda23b-b388-4109-9299-eba316c6040c phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:4336ca6c-e456-43b4-98af-13454e0da03a phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:de28baee-c760-4c92-8ea4-8c487476ac3e phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:4c6d7dcf-b776-4471-8cda-3ab9e7c81818 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:d846d941-990a-4b46-b5f0-ffd5354e2a80 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:b4966a75-97fd-4281-ac3b-870df5ee1865 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:ee862c2f-929d-4295-87e8-7c8fec9fc855 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:5b877046-b1b0-4094-aec6-01ec53845a71 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:ea7857f0-0986-47f2-8757-a9cdbe58ccb7 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:871b6fe6-5559-41c9-9107-95477d68787d phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f3e844e1-1fe2-4144-a4cb-7f12f77305a3 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:cf6a797c-4f02-4159-ab8a-dd56bd3416e5 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5485de0f-224d-4d1d-a605-765752d4fb82 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:636f0c22-ec2d-48a1-99d3-122a22438b49 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e6cce32d-b6ea-4386-b975-47cd11585d15 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:60f1107a-1d65-4214-8c6d-e0d929399148 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:21510a7e-2b19-46c0-88a3-ded95b0a43ba phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8b9fbc2d-7501-4d17-846f-e232cd25cac4 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e73e94d9-e542-44b7-8372-d8ec764ec29c phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:706c99c2-b6a7-41e9-a7a5-8284c7200721 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:041690a0-3777-41d5-bb07-35ec9bae2d62 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ab1c4b3e-75b2-4701-b63b-9ccd1bbeaefd phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6cd5f3a7-3f06-484a-822a-9d614397be3f phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ebd4b0e7-f43f-4a53-8e75-dec492f9ffac phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:790c283e-0ddf-416d-aaee-36f653c8d97b phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:61396486-0c8e-4d46-812a-10690e9981b8 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:130cfb8b-713b-449e-ac86-d88910f7a459 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ac289550-0285-4567-9d6c-83ee9ca05272 phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:269bf7e0-ea22-4647-b9d5-167711d87b3e phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:4257c054-2868-4b73-bae1-4633cdfda6e7 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:27595554 uuid:67e20c5f-4591-4cd0-a6ff-1ba6476f7b55 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27595554 uuid:86656669-c0a7-480b-b68e-917731061c9e phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27595554 uuid:bd6c7ee7-d812-4ee4-9086-a14b7e913703 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27595554 uuid:d0d49d4e-9dc1-4046-b6e1-52b1d89a7865 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27595554 uuid:cc8ff98b-b18c-4b6b-97e0-022275b83eef phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27595554 uuid:efad1649-b1fa-48af-8086-4155972db492 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27595554 uuid:43a2ffdc-7233-4654-9264-c1908526b51d phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27595554 uuid:4abd7d73-3178-4dfd-a619-3bc72895c0e7 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27595554 uuid:7a6248bf-3bcb-4957-b932-45483a234131 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27595554 uuid:1a03fb8e-273f-4699-bd3b-8c36b2c69673 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27595554 uuid:b5e27200-aa55-42a5-9341-0a897293d626 phenopacket.store:CHD8.PMID_27595554_patient biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27595554 uuid:4c26de8f-f40a-4243-8c66-861a54752683 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:fe2fcdf4-65c7-4492-9469-f08b5e18d5aa phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:dd0f56cf-93ad-4670-a231-5b1b01a6cc3c phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:3c99ecd1-b033-4ed9-b692-f5efeed480ac phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:e7494ebf-9cc7-4a4a-9578-eb47bbac7858 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:1db3cfee-f7ee-4ea7-a64f-b3e629e265c9 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:d80673f3-fa5f-4112-bfe6-3cfaf7a2c533 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:75050d01-3f7f-4a7a-a7f3-2d604b391591 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32309624 uuid:99872a18-107f-41ed-a49a-10b6e45fc51b phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32309624 uuid:c81e8a15-20b6-4ed9-a738-351f64abcf68 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32309624 uuid:95fb6cd1-2615-46da-82c9-4951f32755e5 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32309624 uuid:72c5f02e-45fd-45c3-a075-eb6cdb478e77 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32309624 uuid:ecbd3126-d11c-4f24-bb21-610d55097368 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32309624 uuid:1c0140c7-074c-4273-9e56-6aae0328c5e4 phenopacket.store:CHD8.PMID_32309624_case_report biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32309624 uuid:0dc98e75-1aba-4174-a0a6-76fd48b458da phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:fed517f5-d184-46c8-aa8c-619ab65703f1 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:6c8bbc25-8f86-4120-bc53-3192e150f243 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:114103ec-373c-4588-a357-62117517a8fb phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:0fe3df1c-d7b9-465c-a149-37de044620d2 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:3d87198c-ad5c-4545-8153-7466c705533e phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9bb4d562-cae1-4ec0-9f7e-7f3e62e37a74 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:be0c5e99-08ef-486a-9ae0-a74ea955a0a7 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:7a846859-e82f-4fba-b6f5-ffaf95cf91ec phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:1a8417ed-46f3-48eb-b2d1-04180bf1185c phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:a9a8deff-fb29-4a1c-b54f-e427d3eb5341 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9581bc91-9056-4ee1-ae8c-09f39147e176 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:926108d4-35ad-4902-b71e-a696c1a2a680 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:bf5e77ac-b23d-4926-b471-7b0d4608c0ba phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e6bf4e18-e25f-41b0-ab91-b8bf7c4dbd54 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:130aa3a5-15cd-48b4-997c-b62e80643c8e phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:5b812feb-11f8-4b98-8596-5f67cb13dc2d phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ede59405-b9cd-4622-9920-b6c0533927e5 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:9a43ea73-bf8c-46f4-9c95-5e88cad73ad4 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:36978be2-b85e-4fa6-90ae-129f43ce159d phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:a0662f47-243b-43df-a325-ca2032366202 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:f1999894-e309-4be4-9da4-61f110478549 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:17e1acc9-e357-406f-adb5-58eae8039485 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:a528df5d-c366-4d2c-9ba4-03244d84d42c phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:17d716b1-1255-497b-bf6d-fc4426171fae phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:d350e90e-8709-43a1-aab4-332ae9ae06f8 phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:03456cd6-5b29-47b7-9246-bcf5e39c0822 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:551527a1-b3c9-4012-b721-d286c1b31521 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c0927fbc-a51b-4493-a2f6-80b45db60936 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:de02876c-974a-403b-b6ce-fd2d10136452 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:14e2db4c-9a5b-41fa-b508-00684c9b3095 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:f511ad8d-b372-491a-8d70-96aa23d39cf0 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:fcdeab28-7f90-4db4-b236-e149b6f1c9c1 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:de716101-55d6-4be8-a4c0-8a444fa465ed phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7ff63dd0-10e2-43b7-8006-694a3116f33f phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:fd75a4e0-1cfb-46c2-b7fd-a0e806c759ce phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cbcf143a-e06e-47c8-b2b3-0c0c420f3256 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0eab9e83-c038-4ac1-aae5-9d1ced018f4e phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f84fed4e-90ca-456b-a983-3a2a2dad454b phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2b58ec4b-3644-4386-a40d-3fa3105d85e1 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:64e7c4bd-3a89-4a41-ab4c-66b91131360e phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9127924b-4eba-4050-9819-755d7482d123 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:fa48309a-7ef1-4957-9b75-c285fe2b5e09 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f895f46e-81cb-4593-a9e8-6c76595ff436 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1c79d43f-c7eb-4bdf-8383-f81196eaccee phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cb6779c3-ec28-4aca-880c-e94e5fe6a5ea phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a95f3af8-db46-4dc9-9c17-9e116e0ef3e1 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b759f909-2fbc-436d-83aa-a2f3e24643b1 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:047df85c-9625-4c60-885f-dfd5218bcb27 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1ac7fc44-e817-4142-8175-063c9ed62606 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8dffa7e7-1362-4a39-868a-92097fbf31c1 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:763d4902-37dc-4797-8e4f-917c88590cb2 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:28e724f9-922d-406d-8e36-a2ba41861e84 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9a224b0d-89b5-46b9-8d1e-230fb9c52c8b phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d0cb7451-636f-4ad3-92bd-539959fa74af phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6170f7c2-4402-44e9-9f1b-ad8166ba09b4 phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:bee1265c-bbee-4bd9-8eae-8466f668099e phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:e5adb98e-afe5-4478-9e66-202b716fd94b phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:66d03f6b-0aba-401d-81e6-dc93611a44fc phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:31980904 uuid:66da96ae-0ced-4404-ab51-a17b24415495 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:31980904 uuid:7e94c13c-0f0e-442f-9dd9-d189ffc1b1d3 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:95060497-31f2-4696-a1ef-3fa93ea912f6 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:b3e4f873-1b0b-429c-a2c2-8ffb11730106 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:06c19ca6-5e5c-4611-81e6-e20ceab0daa5 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:c1f223de-f0db-41d6-ad31-5123229a7ba3 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:fd2e8131-0e3c-419d-b236-f1012c779199 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:32ba109c-9304-48cf-bc10-57dfae3ef49c phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:f3cdb08c-c715-49a2-82ca-efe1e1a2568b phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:55ef7d5d-5c9f-4067-8ee8-b0b5f2dfe24a phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:f6fb2b3d-4e83-428a-bd55-b03069256581 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:6d84152d-bf9c-4ba0-82bd-d96288367eb2 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:41bf046a-3564-4557-b99a-7936d9f25e14 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:a0d39289-0ded-4662-808b-fe8d86124539 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:4737ec50-d581-4a9a-bf66-f241fab5f4d1 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:995622f3-059d-492a-99a3-895c5976719d phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:053757d0-dd54-4eb6-a3ad-1f6736f3c85c phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:a566edcb-5fb6-4711-9ca8-aaa716c505a0 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:54669b96-8fba-486b-aaf8-ec58eea48817 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:43f63b2b-cfe8-4288-834d-f60183e40f8c phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:47b94942-9f8f-466d-9c2a-4b359ca25aca phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:6961998f-24b0-42b5-a4c6-1b99954df851 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:f35cf1a0-5938-413b-a389-cb12cb90de89 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:1f95ba15-e082-4650-b74a-92705612ca24 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:3b8f00e2-44e3-489c-b02a-2907d5b9f286 phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:d6cac24a-d422-402f-a264-b9dec78c70f6 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:72dec1a1-98c0-47db-b273-db66f7c25a04 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:50c22e57-c117-494d-9117-971c2e032fac phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:e878490a-7a31-4192-9608-ecd8bf3cc631 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:194c7854-18d4-4610-b9f5-d35a85b3c4fc phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:377637c2-34cf-4c74-b596-d7b9d5987f0d phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:0912bc73-d9fd-48c8-917f-30f987c5799b phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:5abfe610-4031-4cb3-935d-298766441c5c phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:d822206e-02ad-473c-8f36-a547e0055e1b phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:c411d41b-8103-43cf-a646-b96dbaee4b73 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:712ca4e8-700d-4986-ba88-48253faf732c phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:bf3a8d31-2010-43e5-8237-efc898267f65 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ecd0f2ef-a0be-4c76-9da8-27ce333b698e phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:46aefd0b-51e7-4123-a067-612a18124f4b phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:14d1e525-f094-4860-9c36-0178c686180f phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:48de6427-af43-4659-bcfd-ca85ea3bcdbe phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f8f0a283-7b8d-4f08-af58-5b531cfba483 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d03a8a4e-67a4-4cb9-b983-fd3e2cddec1b phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:92ac8290-992d-4593-a0b0-24cb44ee49a7 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9de9d055-9201-41f5-9751-e55ba5c2d9e1 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ebb44914-a2a6-406d-9c6f-48932d8cf342 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2bd93f32-bdd3-4cb7-8461-92c0c4acb73d phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b9a536c7-aa8c-442d-8ab3-5d6432d74904 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c4a3f530-03a6-4bed-9a49-3d77e9d0394d phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f2f37df1-558f-40da-a6de-90df7ccc2619 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:47d18cba-1d7c-45f9-a6db-7fee24a917c6 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:37413c9d-98f9-4df5-a7aa-47b63b942c78 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a1486b0f-03e1-4c23-b646-5cfb8657f31c phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:525aa738-e8f1-40e2-aff5-388e8a0be075 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5256eeee-312f-4443-a17b-566e5264c2c2 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:35f4714e-c07f-4a92-b0a4-931733b8c017 phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:47c58868-e59b-4cec-b093-c1433fbc4821 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:6af7d25f-6f92-465a-bdf2-3e73dac7f72a phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:83ea6887-d675-40a7-aa9c-3f3c33df2abf phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:e1d56033-6ffe-46fa-8af8-8c551211240f phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:9f151b38-6fe6-47d1-b7c0-d4a6eb7f961b phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d0d5aed5-c906-4720-9941-7f6b47a82edd phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a1af0108-a8c9-48bc-86e4-dce6034523df phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3e63e86f-5e12-4770-a0bc-c6c6de06eb4b phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:44022550-5c45-4138-8da9-9b337fb0c79a phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8b68cadc-8860-4438-83cb-453076e1cf1c phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:67cc6453-759f-448a-9293-55aca77a1358 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f1d3761a-8b4d-4141-89dc-27776f6d7268 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0edceeaa-fca1-445a-9733-c0e2feeae26e phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9d7f7142-b883-4c15-b72d-028b64c2db83 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:1c9192d1-bff5-4591-9e9b-3d485a477bb1 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:038a988f-510f-461d-99a7-2bf655eb1d90 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:bff83c09-0dbe-401e-927e-0f3903b29c3a phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3e2d573a-e37c-4bfc-a1d5-dc7e68397943 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0b531915-c22a-41c2-83b2-ede58a508c8c phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:1814d8d4-cc33-44de-a46d-8f9b42a22a05 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d4bfb6a1-8a1a-4ed3-a149-cfafe2a89c8f phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:fcaae351-efb4-4da1-af36-f0b42ab8490d phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7e310245-6836-489e-979d-184325442701 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:39072cd1-d10b-407f-8c21-e25ce21ab131 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7473c3d3-6a99-43c3-94ff-ef134d846d4b phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3a0a9faa-6325-4baa-8d90-612df26bb777 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6f8cf2c8-e837-4e63-acc1-d53b9f3ba375 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d3e5fcfc-f073-4b4b-bbc2-7c88f418abd8 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:faf3bafd-48a0-46c7-844a-5fcbb9508157 phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:d1af62eb-8071-4a55-be01-a3b441271f93 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:a1aa14a0-cea9-466d-bba9-f4774a719049 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:47711491-0810-4ce7-9113-01927999b06f phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:acb098be-e312-4463-b320-fe5d8767b3cf phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:2cba53df-8007-4c83-a6a6-fa402a735c2a phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:e53d2448-37f2-44f0-85e7-59610d0b12a9 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:787252f0-0c5e-497a-9fc5-bbac54f92a19 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:d57bc9bc-ebe2-48be-a2b1-6c179a2a0817 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e39db8c5-c78f-4423-a51d-cb7ebd9ceeed phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7c3d4a66-4934-46c0-a1c2-64307076ce76 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:52133de2-c602-4977-b7d7-16e3f51c5dc7 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:4ac2c623-6910-4934-8a51-e3d5087d6a8e phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f06e0df6-0947-4568-a545-3b4036b4dfb8 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a093652f-e7c6-4369-b507-7eb159545227 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ed54b3f8-6bee-4548-8dae-eb384a378c6e phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:988b5cf0-f3f7-42c2-9a37-b0ccf8742ef8 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b286f694-e17b-48aa-954e-736118130bcc phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e97161b5-3775-4d44-a043-50b49f74a28a phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:485ba4af-d836-4248-bef7-26b13443f0a9 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:734412c2-cca8-4d16-91c3-3aecf4d18452 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7256f203-c144-4a72-8d38-3541e23b893d phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dadf7608-31bc-4e27-84f3-ec1c2bd048a2 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a933d482-df7d-48ae-81f8-f6b31436e9ea phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:de8ae502-c43e-4a3d-b275-09b963de9b25 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ded29c7b-6005-454a-8555-1b8723e68499 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:846e6a3b-1358-4766-84d3-58c1660389e1 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dbcd9284-12d2-4394-a030-983dc0ed7fcd phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c6debaa7-4cca-4588-b754-e84776b2f5b2 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ad42fa1b-4b39-4cc9-8930-ea01f9c42172 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b5d177cd-2ee7-4b38-8e0b-5b635a803c64 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b0056e43-6db2-4e9f-9b18-44d2fd373575 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:55f4cf62-e1c5-4d6a-b42b-c37d1be7ba99 phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:7500b52e-7609-4352-85f9-205dad33a09b phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:34415117 uuid:3d122a1c-368c-4c99-a566-fdfb8d7653a9 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:2c63a1a1-732f-4a6c-ba13-d62d244f57a1 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:f00319e2-cc15-438c-9a16-546510f96934 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:6a320ce5-4e00-4409-a2f4-ea41cea8058d phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:a3789165-a837-44c1-8dbe-e5cba5df01ce phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:088ffcbe-3a20-4282-a856-3ca36ececd7a phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:0dc48910-14d2-4c80-92ee-e7923fc73186 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34415117 uuid:a3d03304-d97f-41fa-a84b-732ebdac32ba phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:8906cc7c-920b-450d-b712-b9306ebd583a phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:34ef5352-108a-4ec9-8c04-0c556fe56417 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:c6a51e6b-1ea1-4593-b0fe-401e086bcc80 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:691b4000-e5d1-4c4b-a8f2-ebeeade0fbb0 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:4a9572d7-216f-4d96-93c2-d9a1657e7fff phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:a05f8e71-854d-48f6-8961-2b7c9805cc0d phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:1a155422-b134-47b7-a4ae-36082856384f phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:dbcb9b2a-940b-46d2-b165-5c24b9c82360 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34415117 uuid:0038dbee-8656-45da-b09d-fe03c98a8238 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34415117 uuid:b8b97532-7093-4e1e-91b4-e398a8396793 phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34415117 uuid:b458d1d5-9c26-4a0f-aef5-da45b66331a8 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:d46ef323-d9b3-496b-865d-a6a44f371d54 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:b9f10cd3-5bf2-4f01-89d5-98e9f77d4362 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:599d1af3-890e-43aa-8e7b-67525bddd27d phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:664c0b01-2904-4747-a77e-f7ad16e86719 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:54eae0bb-8e42-4a32-b4b4-9606f30a8116 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ecb886db-af04-4157-a78d-8b70ad9bcdf8 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7dc06492-8a3c-47ea-8146-22141abd5a61 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9db6d2ff-0fd4-413a-9b1b-3f9d75559357 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e07b4643-d19b-4e54-bd40-b432f50bbbe3 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:019b3a8a-64ea-41ee-a65f-c80f9a077c06 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:28e9e3d2-740b-4bd3-b0fb-e68789388793 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:99e207c2-18aa-485b-b39d-fa52b03f82f4 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:83c5cd64-3864-4c29-a692-b11cb538a9fc phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8213c71b-f875-4df8-b047-987340b65147 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:90f16b60-8f11-4c7b-b4d0-d18a50e3500d phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6af4382e-d378-4cf3-99db-330b96574d1f phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7bb72376-a843-4dd9-818d-51233b8f119c phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0293b6e7-6e6a-45c5-9275-3c9dc94ed6b1 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:79cdc082-7a76-4cea-8e67-9dea409348e7 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a3b65717-cd89-476b-a803-4efb273b6e88 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2a2dcf8a-aacb-490f-8a7f-52b20148c367 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:53171e73-f107-4c53-8b61-9d70b3cede2b phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c2d2f1ac-4271-4cb2-b9e8-46e4e5747386 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:584b7f8a-7b60-4e2c-953b-31df044f3485 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:cfaec297-00a9-4301-92fe-702750257f36 phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:23ab470c-42ee-4cdf-a132-c11449d5b63f phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:a8ab08e8-182e-46d9-ace0-97fe9bf83c93 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:49bb0f09-8956-4d32-9548-a11d26983f28 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cefb6b49-79db-4796-a5e8-d3cd1674ab58 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:9c9621cf-b149-4ac6-bd28-8f914af2d9d2 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:9529b559-c860-495b-943c-94fd439fe193 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:77e71a93-9f15-4358-a5d2-fc73b3809216 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:09ca06eb-7949-46b1-9c34-054c599711c4 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:f202b4f7-a67a-475a-9c74-0627e8dbfdd0 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:7abe27b4-fca6-483f-b406-e12aaeb477a5 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:0f5b01f7-6e7a-4722-bc07-8de3d2af22b1 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cb5d2b27-d4ce-4e3c-9412-596feff02bdb phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:98e3d697-e08b-4f6b-affc-0f06ba8926d5 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:8b14305b-f77c-42c1-b576-835fd6091128 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:2fe82530-efbe-4297-9e17-c726a6149599 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c5b81ddf-2cad-4510-8102-dd59ef5467bc phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:52ebc7de-322b-4e5f-a435-9f91d697607c phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:31c45e31-22c0-4e12-b01c-f19879087105 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1aa0ccf5-2b25-459b-a3eb-f781967fb1e7 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e29c9735-1c5d-438b-be6e-14406d981fb1 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ccebd77c-9c16-4c01-926f-1d1bc567998f phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:66446e8f-4f44-48d0-8ba7-728948bc39b5 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:94a17e11-cea7-48d8-a88d-a0ba955d0949 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:fe5833e5-deca-4e3f-9691-fc42f0a4ca64 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0a150e2f-51be-4178-afdf-e5149488f72a phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b6844ea6-e22a-47c3-bbec-3f903da80b28 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:761eb87e-753a-42c6-aca6-03b01633bc2d phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f79cd9ee-4a75-416a-b235-acaba3db92e7 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2241b567-d0bb-476d-b654-e7a349c70850 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0406feb7-828f-4dd2-b345-463307ca4924 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8353a789-57bc-4058-b923-c8708f9cb7d5 phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9117d3e9-0bf1-4089-a30a-4bebfa25005f phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:c045d187-728a-4078-bf41-62c315c254cd phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:0b5c5b57-adf2-448e-b507-5cc4534a5bdf phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:44bbc816-9f9a-48fe-885a-d5d6077f5ba1 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:b2fb76de-5132-4200-af2d-64a45cb1aca6 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:c8316d47-ce7a-4359-8f26-9807d4456e1a phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:704b61d2-03d5-4ebb-a955-bc00c6f84e1f phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:6f7694d4-0960-4d74-9762-8c0790c6bf1a phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:6cc1ecb8-9ee2-4fa6-af9f-3cb02fba93b6 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:816524ef-753f-4aef-b2d3-280e68a855a0 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:3c6bb491-3ac1-4f94-b4be-bdfba1c06ce6 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:749b39e4-3582-4f86-9058-5ac2961ca299 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9505d0aa-21b5-4336-91dd-3c9159a67f7e phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a0ede1af-c9bf-46e9-b1d3-61afc1767428 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d3541633-47aa-4b5e-973e-d880eb0c79bc phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:743c98bc-d324-4417-993d-b0ddc5159284 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5987b9e9-e45b-4bc8-b1de-64c84b685be2 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7a5806d3-28e1-4b89-9e71-15ec05640c30 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a00e0069-faf8-46a9-a056-7be44ac9b7a3 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:6ee68441-8c4c-4d60-95c3-f44015d9ddb2 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2202609d-c060-4803-9df2-a4def86b1687 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:2f2ebc85-4878-45e7-95de-14f30c22cdf4 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c40cba3c-145d-4760-b199-7c18757863cf phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c919f2a0-564b-4d2c-bc69-1f56406009dc phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:aee6eb3e-0fc1-4376-8530-022900ae4dc5 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d7ecbdd3-14bd-46e6-821b-47947915bb1b phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:de00604b-ffa7-4932-a30e-f35844331764 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:7853d782-06af-46a1-adb5-0c8436a58851 phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:c1df5a29-74d4-4a85-b45b-0cb42f0cad2f phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:aeb97795-00f1-4d1c-a21c-cc4cb331f482 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:153820bc-1288-434e-a5fc-28d736a206a5 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:34c24898-6da1-4e3d-8e38-4b1a023554a9 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:368aa191-0a55-4641-9112-9360fb05228a phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:548f2776-bd56-47c3-bbbe-c48a407e9857 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:e0a4d93b-657f-4884-aff0-d6eedf84f8db phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:67562b44-d885-4f7f-bad5-1c328995a1e0 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:51a79632-da5f-41b2-8af0-4d7d1dd9a1dd phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:876571cc-72e0-484b-a9a1-7b053555bca1 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d82cdf02-900a-45db-8644-aa8225fcc3da phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:759dd787-1a3a-45a4-bd9d-9d7cb6fbfb88 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:b35ae9c9-1586-475b-8f4d-d156d9562ee9 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:24402106-e3e7-4774-b9d9-b0209cb1e32b phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1f5eee9b-418a-461b-aa56-1913a0699e27 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:20d72f28-373f-4239-b913-0456f4921e92 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:11122fe7-9eab-47eb-9579-b23b4db1c145 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:59b77ba0-7424-4675-80d2-c13f9da3603f phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:60737a83-6f70-4e64-99d9-38ea88ddd7ec phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e7cfcc10-cf5f-424e-8f63-1deab20323ef phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0269ca80-7d5b-47f2-a069-5a67c2c0f63e phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:f59bf456-4602-4ff2-8501-49ffcbbd85d4 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:532b05f3-011d-4188-9cc5-20cbf849964b phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:189468eb-e290-4b15-8ede-2e68171bef74 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ef6a97a8-9e81-46e8-bf11-f65efb5b5243 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:96ae83a7-2fe7-45f4-9de2-4b61a515a890 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1cc68a65-9046-47d2-a93e-255d932a0ce2 phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:9f649b6e-215e-46e7-9cbe-5856be0aa78c phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:8ec1923d-13e5-498e-9ebc-23974e7fd5f5 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:259b24b8-545f-4963-8fcf-349d4984eeb1 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:b3122a8a-8a29-47dd-823f-f2b104d37a71 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:03516946-663b-4bc9-88fa-dacf3b6126d0 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:7856de55-c500-4ac0-97ca-16f6b034b046 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:181bde46-c262-4363-8481-9b819be0d1d6 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:bfb821d8-6787-4eeb-9a0d-72a5d22b6c7a phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:29f4bfaa-8299-4299-ab87-7fc9d8de5019 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:8e56d52a-6f4f-4df0-aa3c-a0cac7955988 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:db6b56c4-78c4-4268-96d3-06c30c24e2ce phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:aebee380-677c-4e82-b9f4-856eae76ea0a phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:1e13dd09-6622-4156-adc0-695b3a2b1231 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:e76d7b33-c322-44d2-a879-36d70227f62c phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:38fb69c8-1646-4794-9037-23e95ef681cd phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:f634b168-c3bb-4268-897f-2bfc8d35b971 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:2699ade2-6889-48e0-885d-20eaaaf86c36 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a55e0069-f1ef-4792-81ec-f80b12d33e4f phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:bd028183-8873-424d-bc0c-8ce4d41f676d phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:821afea2-74d1-4514-976d-746068b2e6b9 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:52375caf-e9c9-45b2-a50e-03f3230bfa18 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:526b104a-4623-4746-a563-b7d00c519749 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:98382db3-dc94-4786-9f8b-91168019140c phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:704476d5-3e3f-421f-acf2-918d0281cb01 phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:d5919107-c00f-4109-9ffc-ec5af146e5c3 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:2e50f6cf-b631-4d2b-ad09-75216af3e18b phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:6794eceb-09cd-4187-a330-b771eeac0274 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:1055496a-1deb-4def-8671-e26dc3b9e7d0 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:e369f360-9273-41e7-880a-676d1a3234b9 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:c693d2af-80cc-4ac1-8b6d-93b3ce8f22e1 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:fb225e87-e080-4c67-89cb-a8de34267e13 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:de85459e-5344-421c-bc03-cf93071442f4 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:39793c59-275f-490b-97d7-2c10c81fb919 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:d82a1e1d-3298-41ba-bae5-0306a78764c4 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:98df2ee9-fa4e-4245-954d-9b3cd64f40f8 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:5d4b5289-be06-4315-89fe-28ed17ef3610 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:6dac244a-88f8-45b2-aef7-92d48354d966 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2cf7e738-56da-4c27-95db-35ab51f9229e phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6888c656-9aa2-4e25-b245-5c8090f2127c phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f5a4e9f7-6d94-4b92-9b33-76e90d3f4a73 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5c30cf07-9ed4-4798-9df6-21e685eca3d2 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:9c26e1cb-23f8-4b8f-aaf6-737672e3be94 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5ee85a95-63cd-4e45-b501-573daf3e6dd6 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3c87bd80-4259-4449-8217-872dcc54ed06 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:5a7f215c-7d04-464c-b20d-9d1d64c698cb phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ca0c729a-d0a4-4935-924e-e633ff6636f1 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:86a80883-bcf5-4c2d-b5f3-42a63a60d736 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d1e77973-ff0b-4185-bd01-3e6b39ae9d7a phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:33108214-7072-4ca2-9b2c-b60a3cd80f96 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b6593b35-cbf6-4232-a2fe-29493b39c07f phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:4db16566-3259-421a-8e55-82092dac88e4 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:feed41e5-abe5-48d8-b068-51a327352f4a phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b46bd84b-a4e3-42cc-87da-c8693598b9cd phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:bfb16c66-06c2-4065-8026-1316d299d912 phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:da36b129-efb3-4bd8-ba3a-bab7d860a0a7 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:ec471628-bd1a-4c24-b759-8fb5cade8225 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:0b5c39d5-388c-4777-b7b4-a18a2f07366a phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:379f5f66-f91c-49ec-9e32-a2795c97de8a phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:9abd3bf1-2ce2-4ded-821a-78d3897c04e9 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:90d125ab-ca81-4d68-a8b1-c55aaeb0d50b phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:b72bbdbb-c918-4331-b451-fe55c1445450 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31001818 uuid:5d9c9358-c1f4-4fcf-8010-802d51a5b13d phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:70341089-34db-4810-a1ab-c18b4b1648c0 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:b384ea20-f852-48bd-9ced-9a218f030a50 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:1762e9a1-aa66-4c3b-8de7-ded96614a477 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:15742933-65a4-4cc7-8ef1-4dd3e14980ca phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:d4bcd145-dc7e-4cb2-a552-76a0eb4627d4 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:162c0b71-123b-4218-8a8a-5a25674b197f phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:043caa27-1fc3-444c-8f35-9febf855e84f phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:234eae9c-75ce-43f8-9978-452b6fe36302 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:f71eeaf7-874f-4bb0-b5bd-5fafca3fe971 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:f89d4762-354c-4428-b100-3d1220b7e415 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:e85edcac-7f25-45b7-b8be-38e38fb29e3c phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0032012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:2c0ee89d-b1e6-4a87-a237-46168021d5ce phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31001818 uuid:ba705a67-9a0e-4840-b0fe-52c43e14b5f7 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:b0a515fa-d338-4b4b-8e8c-3e713c2ab8d2 phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31001818 uuid:2e1947cd-2478-46e3-ace0-2936db471e25 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cb5c0694-3b91-407e-b8ad-f9f339ca2a65 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:1d9b8bd0-c7cb-4032-8678-9ea93df8f953 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:cd92491a-53e8-4639-b9c2-17160b5bd19c phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:31f25f2f-596f-4feb-b1b1-2aa731aada90 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:f659a362-41f2-4c13-b6a2-9139bbf0f4f0 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:94d681c8-e3fa-41f3-a9a0-57d3c361fd36 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:4cc5d7fe-0e8f-4147-92b2-e41093d07ab4 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ec94a19a-1ab2-4ca8-82df-9e6152d6be7b phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8edb763a-fee5-4ca5-bb52-89f15b6b9ea7 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:0a2cb777-6cd6-4fde-824c-43a60287ab7e phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e020a186-ee65-4bb3-a0f4-549ab5112a05 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cb43e1fb-8f38-4cd3-9ea9-b6c8d6767cf4 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dbe98228-bdde-461c-9f42-4b6dd4de63fa phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:55f70327-aea4-4ae4-b02e-f954c9c8333d phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:30627a94-3212-43e5-87d6-62cfa7fbe690 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e9b6c02f-41b0-4400-89a2-98be540b599c phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:c185c0d8-bd62-47d7-8a44-ebf322c28a42 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:cf935b6e-9994-417b-8045-8d7c3b737cba phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:5e7fce22-8aa9-44d5-a065-985681e4d156 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:93e2d8b9-61b2-4bf7-9aa3-b3b4b3cc78df phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:98dfbd40-f842-4c13-9fcc-b6368948e5e0 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:debe2647-cd2f-493e-ab1e-361bc55fb8e7 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:dd12e6e8-36e6-4064-becb-731d77828e8b phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:ff166c9c-872a-4c2a-8c73-d1e1a8d2f7ed phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:a6ea56a9-3be6-4f76-9464-273dfe550780 phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:1068df67-e588-45d0-b30d-86f36d29b77f phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:e814e310-dd08-4892-b894-529ca94b444f phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:10fae131-6be6-405d-8b5f-c7a326a0c5ec phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:a446fa76-340a-417c-a7e8-b53be672e88e phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:9a61c036-5080-4eb6-b874-b0b83ecf7daa phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36182950 uuid:d4937b11-22da-4522-99b2-4d6cf7183af3 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:34d6346f-e80c-4ce7-afce-6dcdf0125f0e phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:d3446f7e-099e-4c02-a232-5592398e6b10 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0031466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:e4767741-d8be-4bfb-bb1a-6ede1c8ffef4 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0008762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:028b1f8b-14ff-4085-9a5d-d923b33d2848 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:afc5e0e4-a0ec-4249-b80c-68c307c0984c phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:8d69c446-0960-43a4-8070-ddbe0a0979e4 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:9c12058f-9993-4384-b250-0ec81f453c09 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_phenotype HP:5200018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36182950 uuid:7ebba42e-a3c6-4d02-8220-f5b258f8167a phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:7155ff5c-1de3-4017-9602-7b04b3a5efc3 phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36182950 uuid:28fec124-041a-41d6-98c0-90c76210935c phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:a2340324-223a-4f84-9600-936f67382377 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:3d0ab742-5862-4b6b-844f-547e6a0965eb phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:e19485dd-803a-438e-a051-cd9c121b5140 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:ef53b9e3-c00a-4017-a558-d33088179d95 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:a798ae2c-752d-470a-a0fa-e4eab31e8e8a phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31721432 uuid:7c327de2-de20-4222-b81d-aa261f70106e phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c330449c-1be0-46e2-8db7-2c1d2ebfef21 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c11131ba-4f7f-423c-9a6d-8cb74cd9a370 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a4e5bb9d-df86-4b57-b631-47d343c2a36e phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:a2a6912f-e9c3-4e25-b25e-dd512b586260 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:d424ef8e-2a67-474b-8f35-a3c6e098b1dd phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:01932c0e-7ca2-4d36-b7e8-8a73fc2e4111 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:7ad0d055-b6e0-46d0-a4d9-9f8872da1e32 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:bc63d833-4eb2-47d7-a882-647ebdb5d693 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:b4322d8c-b4ac-443d-9f85-0fadc20ace0c phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:5924f5cd-c5a2-4e3d-ac56-5223fe3dffa4 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:69fbaa70-fc3c-4c95-ae3e-fee9649115bc phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c5e8f087-e48e-4c5d-b635-168d85269f6e phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:c267943d-e55f-44bc-8029-059ca5450588 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:583bc07b-02bb-4466-9ccd-03931a04d1b1 phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31721432 uuid:d5257477-6476-4a48-b696-70086566b49c phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:3a623db2-76b8-4e40-82bb-04f842fc448a phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31721432 uuid:7ab8b4e8-fede-4462-ad69-aa5ee8119a33 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:d5a1c2be-795f-4c90-aa80-7992220283a4 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:156ae774-6ac7-4728-8625-0784778b44d9 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:f02e16d1-04ba-407d-9350-d5a8c9a4b819 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:2a56cb86-f117-4b28-a93a-553a29020e71 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:0758dff1-5a1d-48b2-8b8e-7f544d96c973 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:46f11012-d3ae-4403-a3dd-e637f3faec0c phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:2ee37c64-c0c4-43da-ae1c-99e0f5434fae phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:30410094-938b-48b8-a400-4e0bd11fafb9 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:c192fa15-71fc-4f28-b4b1-85e9a676458a phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:dc1ca211-e7c6-4a9d-86a8-0ce6c40617d7 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:99f6efd0-1dad-438a-bdeb-88ec1ac51296 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e7c984b0-f9d3-4d7a-abd3-a77c4f6591dc phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:397ec92d-54ab-4801-951e-76c6ceefbc7e phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:d7ff2454-c7e6-4170-a497-0fd56fc31760 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:890c89f1-0151-45b7-b9a3-c7f259b4c89e phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:1f1ae5b4-e4f8-42fc-9fd9-adae1d0a7402 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a92e0fb6-f27b-4385-9f47-6504f73cfe01 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8758d7d8-efa8-4c39-a3ff-15f3a02bbe1e phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:61d71713-7145-476b-96cf-4be42b268fe2 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ac8fdb4f-b929-48ab-8368-4fc809e384b2 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f7cf9e63-0526-470f-a897-1de718c35a53 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3e8aa6f9-aa81-47df-a3a5-742bb232fb6c phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:225c7d37-361a-465c-99b9-65dd2db2f90f phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:a0a75445-c7a1-4929-98e5-bcf0925a7696 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:eddbfa1b-c6d9-4e8a-b142-fb94c2d7eb00 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:9beb2dcd-2c5c-428b-b76b-47d38e1c0f87 phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:937fe828-da57-439f-a449-e5f0d1399459 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:e8cbaa25-9f0d-4a47-b798-62c814039cc2 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:fdad179a-aca3-4fb3-addc-a03a54098cca phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:67b2dd6b-26dd-4e50-864e-782f63602542 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:a1f2ef05-c7b4-476e-b379-708fadffa90f phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:388f1940-3287-4189-b035-0137d00d4b94 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24998929 uuid:972ba29d-eab7-40b8-b76a-647c61b0434d phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:f6a769f6-a2b5-4b32-aee9-e08b718fbe5f phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:0bf237b0-d0c7-417c-b1d5-2f2e1b6ffcb3 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:ed0668a3-d244-455e-a009-bf2a8a0ae2a0 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7496ef4e-90c3-4df8-98cd-7e01760a7b2b phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:b5671874-5b60-493e-8d4a-61ff82cc8545 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:78589720-0119-4efb-9102-154f52de0260 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e485c952-640f-4cee-b8b1-de825db10ca7 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:8efc4e17-835b-40db-b5e2-5655ce8a4b9d phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:47cce3e9-86c6-4db0-af17-220711e05d93 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:024838dd-036f-422a-ade1-697df2be9909 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:28888c34-1295-45ba-a538-1c5087c7bc70 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:fd1efa80-c7bb-4b65-812f-9f20fbb149df phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7bec8538-12de-43ea-9edd-a0f524085b16 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:3c267542-403a-4740-a4dd-d073a9ac5cb0 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:6af0cf12-b481-4e16-9a51-90659b123238 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:e69a65a8-0bcf-474b-a415-c789841640ca phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:7e794d0a-215e-4bdc-abcc-dcf4b8c2916a phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24998929 uuid:af12502e-42d1-4961-a7df-0257cdbf8812 phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:be61ea28-ad8f-471d-8571-084c0fa4116a phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24998929 uuid:e778d71a-f13e-42c0-8968-33abf26716f9 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:586b0fee-5b62-4301-a80c-ed1d4482fdc3 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:d10f477e-cb3d-4b4e-b94f-720aa230fb78 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31980904 uuid:b0a77a5f-470e-428b-a4e3-65f283995a1c phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:9ac99972-5e4a-4a08-a8c9-ed1e6c43416b phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:aa562275-e399-40bd-8f6a-8f8314ab1892 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:e78f09fc-0db9-461a-bf10-a2f3381d8dd7 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:4fd9de57-777c-4614-b017-7e5d98a47aff phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:0c54b9b2-099b-4c9c-b3cc-b249259aeb11 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:aefd49d4-54cf-44f6-ba26-26c479740657 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:35ad135b-2dba-4f89-8212-1fc53a85ca66 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:6ff1633c-f836-4d76-b37b-cc6d6287c2c7 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:7eea603b-4607-41f1-a1bd-844b1e80628d phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:e98455c7-71a3-4dbb-9c9d-dd197719e412 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:159d58ce-4232-482e-88e3-41f450aadc0f phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:69d06a18-769a-4804-b5d3-f86fd9bc4a9d phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:f76045c0-2abe-4b24-9884-10b97d6528a3 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:5d55c3d1-ba07-4b42-8ce9-c6f01435c74f phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:5c8f19bc-f8d6-43b8-ba33-675063814409 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:bf5b2256-01d7-458f-b861-2f3bf22a4d47 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:0fd47fee-7496-4dbb-8975-e54f6e26f0d9 phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31980904 uuid:7c4f1447-d3c9-448d-831e-97810e6c563e phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_disease OMIM:615032 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:10a91aac-28f4-4c01-86de-11445b54980e phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:has_gene HGNC:20153 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31980904 uuid:3952351f-b182-4029-a1eb-b08de02a7555 phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:24073597 uuid:2c51a0e0-ab52-4478-b9de-713e1d055d3d phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_phenotype HP:0000485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24073597 uuid:9cfcd842-3c2c-4c5f-a0c3-f9722976d3c8 phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_phenotype HP:0007765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24073597 uuid:3240918d-7a77-4970-8dc1-8cacf39705cb phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_phenotype HP:0100689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24073597 uuid:2711751c-1344-4049-8044-46026096d088 phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24073597 uuid:f0622cc6-1734-4419-99f1-55568a919396 phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_disease OMIM:309300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:24073597 uuid:c2387add-6903-4a3d-af94-f69f0454492f phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:has_gene HGNC:29861 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24073597 uuid:9c2f470b-e28a-4512-893b-d212514db475 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30249733 uuid:979e2bbb-7edc-48e6-a949-6bfe2b474815 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:30588d97-a4b2-41b1-9587-43baea339c04 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:1c0c4bae-aa86-470f-9253-d7727b2a4edf phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:8c9e936a-509b-4ffd-9689-6c9c47aa1b20 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:a51551ac-806a-44c4-a436-9f76a4236382 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:9083a84c-c0b5-4796-8a22-fdaae0316801 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:f9373c65-3321-4c99-a98e-1408d482f52b phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:1f3dcd65-d63c-4813-9655-392e46c574be phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:3eaafccc-f9a0-4d71-b60e-b00ff551d76c phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:8a1c8f40-81fe-4998-bab7-d63569283b6e phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:9962e290-38d5-4595-b3b6-e12df8605b22 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:ffb74211-f498-4265-855d-dc65feb3fa00 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:f628a173-c8d9-495f-b1df-2cbf20a8e8ba phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249733 uuid:6b03c16e-b0e6-4069-8202-da708a4be4b1 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_disease OMIM:601776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30249733 uuid:d3134428-27b3-4bdd-a0b5-2bdc36eb8442 phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:has_gene HGNC:24464 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30249733 uuid:8e1fb667-40ee-4226-a145-5a7f221d609d phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:4c5758a5-ed59-4d48-8e2b-0e9f3ad6c492 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:ad11e1fa-b0b2-49f9-a7c1-d5f45c46ea39 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:5cfcc8d0-7eda-4018-92be-0624feff5925 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:027504e5-b8b4-4d78-912a-66090fe61306 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:5b3ee259-7d07-4035-964b-4592ed064e42 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:4a8d99b5-aaa1-491a-89c0-12a9a463d848 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0001234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:853540aa-226d-48cd-826c-0e668b24bf87 phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24269551 uuid:3600a632-e8e6-4165-b5d8-64f671fb7ece phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_disease OMIM:605282 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24269551 uuid:07712941-4f11-4fc8-a8a7-695b49b5a20f phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:has_gene HGNC:17198 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24269551 uuid:f43737f2-9e0c-41f7-91bd-211a626f062e phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:3493a91f-997b-42de-a39a-c0eff82141b2 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:90f95fd1-b794-42d3-94e4-dac0cce3d1d9 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:7e25a461-eaa2-4486-82d7-b3cb80e31416 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:472a9d55-1ee8-4814-8834-d8768fd48291 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:5535dd66-56a7-4b92-a92a-08d5522cdab4 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0001234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24269551 uuid:16176c1a-8d66-422d-9b73-e13ddd069ab6 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24269551 uuid:733ae9df-29a4-4830-9452-441cf77d5048 phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24269551 uuid:73bb01ee-6790-4c93-ba9f-afbaf1f638dd phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_disease OMIM:605282 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24269551 uuid:d325d75b-400c-41de-a36a-f0d33b953a5c phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:has_gene HGNC:17198 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24269551 uuid:d5261a05-9d72-403c-937b-c6fcb2f2d1a8 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:30243293 uuid:8a7430ae-b8da-415a-8bc0-4dd427573e8c phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30243293 uuid:10c84c1f-5240-4883-8d2d-96d17cce9154 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30243293 uuid:8ebc454f-006a-4442-8da3-a4a3111a4243 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30243293 uuid:5406867d-4f4a-4dcb-99ce-fa6651807ee3 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30243293 uuid:824d5da8-5238-48e3-ab5f-42d01e37e93b phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30243293 uuid:913ebaff-3f54-4619-8789-db8421ea2719 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30243293 uuid:7f01b2d6-2ee1-41b8-bde3-60de9a43e025 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_disease OMIM:160800 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:30243293 uuid:13f6e059-8073-4650-94de-bbfa70141359 phenopacket.store:CLCN1.PMID_30243293_nan biolink:has_gene HGNC:2019 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30243293 uuid:36f5849a-012f-46e1-a7e6-151768c3db53 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y11M infores:phenopacket-store PMID:25477417 uuid:2ceca1e9-e2fc-46f5-8da1-db8fd8c6d7d0 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y11M infores:phenopacket-store PMID:25477417 uuid:6e05dbdf-693c-4cd2-9c81-0c4a1d0e353c phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y7M infores:phenopacket-store PMID:25477417 uuid:4aefdbb1-4bbe-44f2-8149-b88ffdda7167 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:77281d75-1562-45f6-96fb-a3bec44cfa62 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:685db364-8629-4a57-ace4-31fa84d8e6a9 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:78fafa9c-4d7e-4d82-b201-5ec8bbcaf4af phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:7d612ef7-9cde-4145-b11b-2828cb49fbdc phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e09f0482-c2d6-4e9f-9f43-6ef5c780bdc4 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:f0541ba4-0342-40f1-8e69-95f1361a4bcf phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c4702dea-470e-4754-9be5-eb05a13c1df0 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:6f043cbe-886f-4fc4-9b3a-ac1b3381d6cc phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5c44c0b3-751c-4b90-bb2a-34a685513565 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e6cde442-8edb-4cf3-aef0-c737f85bfa3a phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:df2302c6-38b0-4586-98d2-ca843c6cc6a6 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ef0a7fe3-fbe0-461c-b789-7501f1a14efe phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a414dad4-064a-42f7-a2d7-d35e8b9196d9 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:dc412b5b-c6f8-406d-b883-aa8e977141db phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:5a490994-9c52-4eaa-94bd-9a3e22099ae0 phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:42c0bbb3-b555-43f9-9c8c-ac496ab0d77d phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P5Y11M infores:phenopacket-store PMID:25477417 uuid:29617f7f-542e-4de0-8109-bc5ccf7c405a phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:a2485163-81c5-4e4e-82a7-cc136fe28565 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:25477417 uuid:5f594728-7219-40bf-a0d6-c637ef33f611 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:25477417 uuid:7e0f85a8-f91e-4e0b-b3d5-9b6f2616127d phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:2397d87a-31f2-4fc9-82a2-967d654ba7ff phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ceafb1d3-702d-45e9-aeb3-bc86e9d04449 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:3d90ef86-b4f5-4b67-8761-0c6aec6e7ea4 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:cc8c63cb-04a7-4e11-a0fd-6f3eb1846859 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:09ae7f61-0e33-41ad-8f56-922a609eadf1 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:eb9b6545-b947-412c-a7b0-5a19246807cf phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e14c3d19-e382-4b28-a138-7ad28b65e564 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b0ada2ce-ea84-489c-956d-c7130485c7f9 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:4ea2f685-c499-418b-9f4a-06b89c92ec98 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:32605d34-7811-4976-9398-6d8bf2acb9dc phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5b3ccc48-8354-4f68-86f1-9c9986508c08 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d8c1a5b8-3a20-4a54-944f-029d42306a54 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3653aa8b-a38f-4163-b07a-9547988fdde3 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:48463950-ab41-4d84-ba5e-2b374084ab2f phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:1cced1bf-ddec-43d9-92ee-fc95c85fe6bd phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:bcec9434-8146-4c7d-960e-76aee0709c8e phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:765deeab-2ed5-4f09-a45f-6c8212cb38ed phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:22b637d5-9b30-48c7-b4d8-94dead8a5a2b phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:25477417 uuid:0355766d-06e4-4119-bac3-d99846b54ba3 phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:11882851-42e6-4c8f-9731-5a3dd6f41085 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:a805af5e-3582-480b-9d55-389a4fb0832b phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:b734a193-eacb-48e4-862d-0154e8769857 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:e23d4a6b-ed9c-4a66-b74e-3b46a79c8e23 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:94ce7d76-f836-454e-bccc-df73ac3ffa98 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:cba60c60-eb24-4b0a-8dbd-196ed1c3b3a5 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:755b1ade-b42a-4dd8-9e47-baec41ae4af8 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:842ceb28-88c6-44a6-8b54-45b8224d2c7c phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:838d7fc9-a8d0-4b03-b9b7-ed4a7ce44628 phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:24321194 uuid:cfa45629-ccc8-45d8-b517-f34be60a601f phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24321194 uuid:0d222f91-b39e-4a51-bf57-970f5f7b4578 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:24321194 uuid:9f89e2e9-3918-4564-8c18-4b771f950ce0 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:24321194 uuid:295ab9ce-d7d3-42dc-80a9-c2c259d496a5 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:53d7a6e6-7a83-44fc-ae23-332663de60f0 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:f14c2ca9-72ae-4430-974d-fbc568d97a82 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:9dddc5cc-6105-4cc9-9875-d4c2ca51ea9c phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:505bbbd4-3d4e-4739-8455-99835d431ade phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:ce96ce6d-1d86-42ad-a6a1-44ebb893bcb9 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:e0535f6e-9ebc-4b54-8656-fa3110f3673a phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:89762ee4-e848-46cf-9fa8-d578202af3fc phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:a9cc4be0-b633-4f54-9a03-27f0b38d0023 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:6c4d4b82-a70e-4540-9711-dda1de7a29e9 phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:24321194 uuid:81e7d2a9-0816-4d97-a522-aba9b1c05d7b phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24321194 uuid:a2d3ed44-d9e2-499c-89eb-b3442a07fd40 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:026fe99e-b22f-47df-ba90-1b3abc4205e1 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:039dcff3-8639-4f5d-9ef3-f2a85c321cd8 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:2ed3b9b0-49fb-4ff7-b24e-287cfada97b2 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:f7d98ee6-161a-4bf3-ae67-26b14f548908 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:0b1f5657-0601-41a4-b333-b27bf8806fe2 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:5dd6e990-7e19-4977-a8c1-925ad5117ef4 phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:24321194 uuid:8d72009d-2e83-422d-8ad5-7c51d2e60f2c phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24321194 uuid:6b6ee51b-a1db-40fb-8c6e-f3223e8652c8 phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:16705067 uuid:fa81d097-1367-4a4b-9805-01d25d610c41 phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16705067 uuid:17338865-efc3-4576-a7db-c2c7af23862b phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0002199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M12D infores:phenopacket-store PMID:16705067 uuid:e3f47dfa-de1f-46b2-b31d-d1636f9cb15a phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:022f0b8b-bb11-4d57-9c53-94d398e04817 phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:f92886e7-af20-4b53-ab6e-5b599cbced97 phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:f7736d60-e73d-47ae-840b-047a8036f7de phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:5b21e134-7d6b-407b-89b9-541e41eab18d phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16705067 uuid:34f099b6-8d12-43c9-bb2b-e8b476c1aeb5 phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1M12D infores:phenopacket-store PMID:16705067 uuid:97bfe220-1107-49b1-9273-c636fa24fb11 phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16705067 uuid:a55b3d78-7771-4406-9121-11a8e67b5957 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:25477417 uuid:69b950e1-3ef9-4977-9273-74880759b53c phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:25477417 uuid:0fb7bd12-6073-47fa-99ca-8226ff541c58 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:25477417 uuid:7f518a16-1a3a-4292-9d4a-08703e607831 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b956f8cd-c5b0-428b-8fdb-32777da9ba00 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c3c25515-ec61-4740-9ea6-e2b64c1ad099 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:9f011f3f-2c36-4678-9d2e-96f96f395a77 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3c4c3eaf-e214-471f-afe1-71257f2a68c9 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e3bf929e-a472-499f-84cb-1d9decc3a7d1 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:5d207ab2-52ea-449e-998e-26e183313a33 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:5a37f6ea-f58a-4b2f-8d65-98bf1b96b2d6 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3330d03e-484b-4882-bbfa-2a9d0e329183 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d596a5ac-8096-423e-8409-273636ce1720 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f43550d3-c788-4274-a952-78e66bd4ee27 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:946f2b7c-5440-4099-9c8b-119cbcc9d526 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ba657d5c-4f16-4580-b948-0c6dd68ffeca phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d6884c91-91ef-481a-8f87-73be9974ce60 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9af412db-25d3-4ad8-9927-83ea775e704b phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ee7c123c-2dba-4eb9-b282-ffcf94105db2 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:afc9fc44-47b1-41f9-b8f6-d80af5b71aae phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:25477417 uuid:b80774cb-93c9-4e8f-822d-6b85942c0336 phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:e54111da-e049-4889-9210-76f9cfa7f32b phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:24321194 uuid:24d72617-3080-4757-8480-815f86763cf0 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:9c0f755e-eb5b-4a29-be52-1bd13bd06652 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:5c49093f-9765-46e2-b47c-c9c8bd190731 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:70b28fbd-785c-455f-8a87-200bb594d8af phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:2ffbaec6-dcc8-487e-9a99-9669e31b4546 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:20364fef-cb63-4a31-84c0-4cbd06c5f7b8 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:256bdbe6-0755-44b2-905c-ffa1183ed330 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:29cdd05f-85ce-4b6e-8753-5556ff46a663 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:8504e12d-5a68-4e55-af2b-83d235ad8b7d phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:9b877ec2-0cb5-4102-b624-bde15ac55265 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:fb5b3fff-9b76-4a1c-bdb0-d9e3794fcf4b phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:15b826b5-cfb1-47c2-81b2-0d1e754c7579 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:0e6c32cc-e44a-4cfe-a4df-7abe86dd846e phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:24321194 uuid:0f259747-a95f-43ac-8c69-13b07fafdfc4 phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24321194 uuid:ebea7a1a-719d-4364-a3f5-72593a884176 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:653140c6-4b30-49e3-8c49-9843638fa912 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:c2ce14b1-a451-4397-8a9b-4f6ec261784d phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:69b136c8-e70b-4e40-ba47-de3c62a914df phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:1b5f3d4a-d642-4db5-81ca-156d6921c313 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:a46e0d2d-e7e8-463f-849c-80dbbbf19257 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:d9240229-bd65-40cb-9d09-16bc22eafd46 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:b90f4d90-be4b-461b-9114-23fe31e8ab20 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:14628289 uuid:96aac4b7-c2f6-499f-8835-bdfe81018edd phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14628289 uuid:1fe75e57-3953-4fb4-bf37-a5ae3e47f532 phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26426912 uuid:f7360745-bf2a-4abd-88ee-597059f3cd17 phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:26426912 uuid:829c7e9b-ce1f-4cb1-b537-1e052e3c09a8 phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:26426912 uuid:537b01dd-2998-4b3f-8bca-9c5c1834860c phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26426912 uuid:36369b3c-2819-47b4-867e-64175bba2a9a phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26426912 uuid:2c07a46c-eafe-46e8-a83c-3e43ecc45fa3 phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:7c9ae5a4-33b2-4dc3-ba1f-36c5eeb7566d phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_phenotype HP:0033786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:f4769a3c-7f8e-41e8-a657-2b59f6da3bbc phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:26426912 uuid:2793c378-5e0c-490b-a8c8-2c831f9cd0a7 phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26426912 uuid:45343d70-cb2f-4698-8db2-4a44eeea716a phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25477417 uuid:c1fbf367-7bdf-4c76-b86b-efc990fd2ee5 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25477417 uuid:d2816468-670e-468b-9d0f-f5364e138f8c phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:25477417 uuid:a4eb4e9b-b47e-4f85-a4cc-623953403672 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:f970d329-cfc5-4e38-8121-850fbb91dd0d phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b27cef24-4a2b-45a5-b935-775546a55113 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:be91675a-d5a7-42b4-8235-17fca308f005 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8b1d131e-4921-43c3-8a06-9beb710b79a2 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1c9c35f3-7a41-4ac1-965b-981de13b7a3e phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3a5e9cfb-d6d9-4d5e-a219-93d2cc2a7b18 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:8b1e411e-1f01-434f-b0b1-7a0ad1c47beb phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:bfa38f2b-e30b-4772-8695-d6103a21f981 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d14ab29f-9d10-4fbd-85ed-5c4ab204aaa2 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:116b3c6b-e45a-4dd4-9770-96cbcc1c3723 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f7f81f4d-4fea-42d9-a81b-af391d25d1e0 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:be75230a-f47a-4dab-a506-28ddc8079140 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d039d041-16bf-4edd-b49a-a332b6aa9c91 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:33ac7ca9-0ad1-4a8d-9fd5-5e12540f8c15 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d91ec5d6-c8fc-40b9-b7ae-18252b7ae889 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3a927f28-a5e9-4821-a2e7-9f419e55f89d phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25477417 uuid:1cba7182-c114-4cc5-92c7-f544e9b0c0a4 phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:ba40bb9a-3c59-4652-8725-387abb52d8be phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0002199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:21669885 uuid:b54f2a90-385d-4548-a047-c72bac39c1b2 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:73d1729c-b6ea-4272-84b7-548212247476 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:8ae2066d-0515-4f68-b204-30b33625caf3 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:9610b802-e3e2-40e3-8aef-c7cb66c4b7dc phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:097f0849-a6a4-45ec-bafc-119d772f7041 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:ddc5f14c-e4c0-4bf4-9b15-d88dce591a44 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0012637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:b98fba17-4b4c-4505-bc03-fc03c4fefe89 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21669885 uuid:a04ac825-762f-45f8-a7aa-1054e7620af8 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21669885 uuid:ba5eb1dc-9e91-48c6-9f1b-be4dbb3f64f3 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21669885 uuid:0895e371-edbf-49ac-aaae-432ed0c46ea2 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:21669885 uuid:8788474a-7101-4143-8720-9f8f61485858 phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21669885 uuid:c36bf562-c89a-4085-8854-4dd0990aedff phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y9M infores:phenopacket-store PMID:25477417 uuid:2c5c4187-6075-4b13-aed4-9f895c3d9e02 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y9M infores:phenopacket-store PMID:25477417 uuid:5bb07def-bf1a-4ad6-81ca-df36e47d1ead phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y9M infores:phenopacket-store PMID:25477417 uuid:6a8bab30-9601-4227-9dc4-42b7ac46225e phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:faf528a0-004d-4b44-bceb-4f840979aec8 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:83b01e0f-e1fc-499d-ae4b-964b7a6b6d83 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ec56cdb5-7530-40b9-a6be-3884b289f1ca phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:01b92df7-1449-49e4-9010-707097132fa0 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:cb98f8cb-63e7-437a-8008-4fff299d8647 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:164351e4-d6e5-4f65-b5a7-ebb4dae2ae29 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:af825c62-3459-461f-8e15-e230c357779f phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:36bb1d36-3948-435e-b86c-b2645ea7ce50 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:6176deba-e343-43e1-9776-1d781c089016 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4ef83547-603a-404a-9c13-9fa9191ba120 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:51cde162-63db-402f-a916-aee5b79ad8ea phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:69edbfad-5896-4de1-8759-bf11746ad540 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3d8dac80-2353-4d7e-95d7-bc80d536d327 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9fefab43-9764-4107-9565-6609c11cb15e phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:49c7e235-9662-42da-9ddf-d7791d609921 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:dcffd4ec-3cae-44f3-a025-1eeb3f9b7581 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c4b70e3e-74f8-41f5-b4cd-ae052148b81a phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P7Y9M infores:phenopacket-store PMID:25477417 uuid:b2ac56cc-0280-4c2d-b94f-604d83f84db1 phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:35b83bb2-e858-47de-a51e-396ee3c93cca phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:25477417 uuid:38a672c0-78f2-48c6-ae3f-c77b9ce280de phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:25477417 uuid:a813994c-0185-4d43-a034-bbb6aee38d1a phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:52501c43-9a28-4a56-926f-666558404aee phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:4d114b3e-d7cb-4cb6-970d-bd5988f54816 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:73a5d1af-7e7d-4e2a-b07c-ac53cf34b856 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:30b7b343-fd5d-4b4d-88f1-83bd23059fce phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c1f07d2d-2fbc-42f3-8f37-d8dc0bce4f25 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5b78e8d9-a4c9-4007-91dd-c342e6fac53c phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:17483aae-e2a8-43f5-9266-3a3a1353328e phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:de5c2d3a-03d4-4d7c-a069-5e8f23d2fa33 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1f67f441-39d7-4a3c-9424-0b0c3d72258e phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:27c46135-e191-46eb-83be-de05a466b64c phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:7bf2deb1-5816-4341-837d-3705d28490fc phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:2318c427-59c8-43fc-9fa1-4f0c4912ac5a phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:b25ca8ec-4b1a-477c-87b6-7daf5d25cfb0 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c175102a-6031-47f6-aa9b-d355ee6a26eb phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:6a60086e-750d-4ae6-952f-dbc7c47cc63b phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:2ffaf208-a5a2-4a84-89b7-e81bd1c8a782 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:684fb404-59e4-46dd-a722-0ff05b39f69e phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:25477417 uuid:c963c226-a064-4939-88b1-56ec5afdd984 phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:ece35f9e-41ff-4ef2-a62c-6e9c0917df1f phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27067446 uuid:feb7c519-a964-438d-852c-8aeb0733fc9c phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:dd8fa7e6-5e00-42d6-85d7-9da3d2c4ec98 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:3cb49a3e-d9ca-4925-a468-7ee65723d5b8 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:8e1b19ea-278a-493c-b79d-4b3aa768ae64 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:27dbb52a-8285-4f27-b6ef-81140366dfa4 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:ed890d17-d91d-463f-a141-3aea0605a28d phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:44532e36-10fc-4e50-a57d-9f29a5b4e982 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:22eac433-a1c6-413a-b7bd-8fe022ef9d4f phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:abfc85a1-3036-45cd-9a24-045785279897 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0031425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:f4a63b49-cde2-4c86-b005-9d250112a597 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:8447bea7-4a48-4289-b831-12eb75e0b400 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:8d975f17-0123-4e9d-aa56-d1f5e01d8159 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:62b2d34a-dda7-4e96-a168-34a383f735b7 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:f687b2b6-7ee3-4847-a6ba-8cd2ad089108 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:fa651f7a-b2db-467b-af0a-b10fed598fd4 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:819a504c-1fcd-4edb-9cbb-514542baaecf phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:888e6ab6-e760-49c9-95b9-599f687369b0 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:b164382c-30a7-4145-8563-c0715792a8b2 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:eb947460-796c-44f4-b34a-515199478125 phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:ec8c6fd7-8e70-4fa1-8460-40cfcabadd7f phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:efae77f6-c989-46e2-bf66-431b95ecaa3f phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:27067446 uuid:6855182a-2c83-4dc8-a678-473b461effea phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27067446 uuid:182fd954-eccd-4aa5-8cd1-0828964b90fe phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:873e8705-3847-4f38-a787-65a70bc2f7b2 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:e6236f45-c8ca-43c7-a751-57f86e3a3493 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:1a4e9d70-29f5-4bb2-964b-6517a8bc4c13 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:8c6fdc8b-b096-496b-abfa-0b0b02aa3a98 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:2934c9a8-008f-4f2b-adcb-a127228f1cf2 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:23b08ddf-1346-416a-932d-855499388baa phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:cc28482b-053f-41c6-8f28-7e124e0646da phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:14628289 uuid:3b8d0b78-c8bb-4909-a647-d45d0813451e phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14628289 uuid:efc2be31-e8e5-4490-acfe-1e493ef45bbb phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:b75c6d42-500f-49f4-89d4-c1d5b32e13ec phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:e2064d24-8daa-4bbc-89f9-c3b812a04d77 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:faf1833f-fd51-4664-82cc-bbb82bcf2598 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:dea70dbf-cf59-49c4-bcf3-a9e82359cadb phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:6fb1fbcd-7bf8-4a3e-a418-9dc47fa666e8 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:adb198a2-9fdc-401c-9f09-25695a2fd80b phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:f5306162-b3fe-474b-917b-da840a75536d phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:6cb56129-7e69-46f6-8f96-523ae626aad6 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:3af07f14-875d-40c5-8b47-5288e0309755 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1ab4aa60-9939-4c4f-8a09-f2313b117fe7 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ad5ae722-631a-4295-b7c4-72bc25dcdc6f phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8736fd11-11f6-4f03-879f-90d815e8692b phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:77bb9e3b-8445-4287-bc17-d246bd3cd2fe phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:232e878a-617d-4e13-b74d-6c625ea28ae1 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d4f0f13a-e76c-4126-a9d6-70689ea7d934 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e994a7af-6913-4f16-a216-c180db040146 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:8cc87848-3f01-46f8-bc02-7b3bc83e81a5 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:b0616661-0008-408b-ad90-d2424505803d phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4630b27e-22c5-4def-b13f-97da422d227c phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:25477417 uuid:da28c622-1d7a-4764-bec0-a0f6540399e1 phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:cbc48256-5568-4401-b970-3fb332943958 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:0acaaaa7-ac9e-447b-a1ea-3e5377b6cdb0 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:ece991ce-37ee-4110-968f-fd19d23af203 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:4a0cbab3-9c41-46b8-b0d4-90a155f5e1a4 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:38b5389a-6985-42d6-a2e3-b365eba49b8d phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:11743f73-ed75-4cb0-a9a7-4c191672c984 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:76f5e6b9-691f-4fce-9226-278bd81adba2 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:4f1b2bbc-586d-460e-9f11-d483ec24ddc8 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:328500c4-df96-48cf-a4d6-85015b44089a phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:b77d0d88-29e7-4922-9343-06ca4d2c6ec6 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32869508 uuid:505511c6-b3ee-4bb7-a373-8a2100bf7040 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32869508 uuid:f4d1166b-f903-4e81-9dff-c0677272eeb3 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:af6cfddc-4899-4462-8a39-5cb519455ccf phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0002199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:cf5bf3ce-8779-43a8-8418-5139e8629da1 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:26dd274b-a167-468c-aa08-e02f5e594fda phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:091cbec6-b05f-4ae8-b0a0-c853af07ce30 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:f1c1f618-4fe4-47ca-ae07-4efe8377f2e5 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:607c5042-e7b4-47f6-baad-c23edb540607 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:6f0392c5-edbe-486f-b2a7-9e5179c02220 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:4a63a166-9be7-40c5-a7bd-dd967f2f3685 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0001941 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:ac6d26ff-b41a-4041-a90a-21ab702e930f phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:6893fef2-569f-4eeb-8db2-a9093980b02c phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:3a4d3970-3227-46ff-8a1e-552381489369 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_phenotype HP:0033786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32869508 uuid:6e4d6532-5e29-471c-a708-9f1f7c2f3734 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:32869508 uuid:8a6a698d-c1bc-45a7-a5bd-cd9de8c216b7 phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32869508 uuid:9d70886c-2440-44fe-b786-5ec155c9b3f1 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26426912 uuid:f9f5aa3e-d594-4f97-8b4d-0e8fecbb1fed phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26426912 uuid:1275fb01-231e-43ab-9022-a3aead059275 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26426912 uuid:8c117d90-a0c4-4382-80be-6f9df0fbff20 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26426912 uuid:ac112206-3a98-4040-996f-fe957917fb38 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:26426912 uuid:ee2f9f34-0bab-4422-adb6-1087c02abef7 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:4ae84049-3d8e-4856-8107-f9f5c5aec611 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:492c88de-7e18-4279-ba9b-ef00c64c2e25 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:2fa44d87-1936-4773-8aac-2387b7780c37 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_phenotype HP:0033786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:3c3d2bee-8e69-46df-9fb1-99f30fa242bb phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:26426912 uuid:703472f9-415f-4323-9db9-48a39bd636b9 phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26426912 uuid:47f8e29e-58f2-4f52-8efd-549f7ac060bf phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:ab94ead9-277c-4df6-beac-6dbbff6ce486 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:775c6e37-a084-4121-891a-f44f6af31fd7 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:7576ec8b-30c4-4790-8d8f-0b10e7cdbfeb phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14628289 uuid:d8f9f6d7-af7b-47e5-8be2-c90168793922 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:103f5f39-3ed9-48cd-b2b2-7ad5e40cc646 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:91998472-99f0-4868-aea6-fbac871045d6 phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:36692b12-466d-4a56-8a41-2d8ebcb9d14f phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:14628289 uuid:edf46032-01bc-487e-8c37-45668515ae1e phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14628289 uuid:76495a3e-4024-4da6-b084-a86b8c54a30a phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15856319 uuid:01cfaddc-e7f4-4577-b410-cab50226913e phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15856319 uuid:81b6aab5-d7de-4e27-8e0f-83d2d875f914 phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15856319 uuid:c8ee3450-6f11-4426-933a-79320410de7b phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15856319 uuid:7168509e-9603-4ecf-bdcb-3bd878731aea phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15856319 uuid:84cdf52c-2baf-4be3-b519-2e15a50ef10b phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15856319 uuid:00224c99-2b9c-4506-8bab-ec06f33fd0be phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:15856319 uuid:7398d24e-a413-4583-b298-bcd83d39fb88 phenopacket.store:CLDN16.PMID_15856319_index_case biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15856319 uuid:edd9cbd3-947b-477d-8f56-914c21ee9846 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:6816f2a7-bbd2-41f7-8877-d1b1d5e4493c phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:3f1b100a-9974-4ba9-8731-3421b34d7e5e phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:25477417 uuid:11c35285-93f0-48f3-87a4-9a17517192f2 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:551faa7e-b292-4fbe-85e7-9f95d0f5ff0c phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d46721c5-e900-4ffa-93f0-177046da799c phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:3f8adc5b-69cc-459b-9792-7aa0abb0f0f3 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e67a6221-a6f7-4add-8fc1-1196d40612f4 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:60af8278-e2f7-4b24-b084-848cd3530b5a phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c79e22bc-c61f-4fe8-a906-401512adf3ac phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:05eb6c63-b095-4a2e-ad57-192edb9d874f phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:702e6ca1-8d46-4bfc-a331-b97874a9bcdf phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:17c97c60-b90c-4789-95d3-74bc0c8542f8 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:573c433e-77c9-4a19-a76a-3ff8507a289c phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:0f7b8e38-53d5-4a84-891b-52fc42dfc6ef phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a52f895a-4026-49e8-8e32-f049f3d4d8ba phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3d4233b1-e13b-4673-889b-cb91ba8e3705 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:1bf4365e-ac06-47d0-bae0-21895fbe282a phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:30062c3a-3394-4cd4-808d-efdd0cc63703 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c35f0692-12c1-44c1-84c3-ca8602314d22 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:25477417 uuid:975fc7f1-c39a-4fd3-9335-eda828053263 phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:78dad94b-31c1-4cb0-beea-b981e16a53e3 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:1e0b1d83-7aaa-423b-aafd-bddf8c8fc2d7 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:83cc12ab-d2f4-4352-8288-b2bacfd434b2 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y11M infores:phenopacket-store PMID:25477417 uuid:bf08c35a-0b32-43f3-b35f-658055ddf639 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:9084da76-ba9c-4da6-a651-213c87663a5e phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d2dda347-03ce-4b03-87fa-1080c49f853b phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:391d84a7-3d2c-4598-b7e7-031f55cb6522 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b9db19f9-7262-4081-a52a-815c8a8ecc2d phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:826d691c-e13b-4765-b1e8-c7504e9c3689 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:46ca7fa2-13c4-4935-9d58-5989df182086 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:fc5b5211-b8d8-4283-851c-c86bd639d77f phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:67729189-77ab-46ba-a71c-1b792031a588 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:bf174e46-b669-4a25-a4f4-34a7ef3783c3 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:eb6aa901-4dfc-49a1-a7cf-223ba48699b8 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:03858935-8e3d-4e41-ae76-77803dfa45b7 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ae3b4c14-4872-452d-b5eb-122253d3fc9f phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4fdb4ae8-4720-427e-8526-9fd77ea4edc3 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:36873293-1d15-4c05-ad2b-2bce8084d4e8 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:986bb3a8-1903-476a-9804-98a304e47f7e phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ff8a04d4-0f5b-4de3-b5fb-a04baee7d3f5 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:838bcbda-f5d1-4977-9740-49619459a0ab phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:25477417 uuid:18d8b9fa-068c-4272-8fb4-044d30a25e89 phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:fd9e0954-f19d-49a2-96db-4f75a509efdd phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26426912 uuid:9c458993-6017-4e65-bd74-1c65d8388d7d phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26426912 uuid:b77eb3e8-b4c0-440e-95be-426201b2b0fd phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:26426912 uuid:3b914945-18de-4fdd-9579-85ab3d0ba3d1 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0002199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:bba2a9e8-17e1-428b-9a6c-772dfbfea8d5 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:46597a11-9c41-494f-b510-159b7faab5d1 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:b96a1ae4-7b09-4726-a270-78e9a29ef749 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:c74069e6-4e66-4b7e-849a-36684c6b1ca7 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:92a00238-ff95-4c46-91e1-194bb0bdb0d2 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_phenotype HP:0033786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:196ee6a0-7ab5-4ea5-962f-8fe3ff8a1ae2 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:26426912 uuid:bf6fcb3a-40a7-488c-b9a0-ba1bd322d105 phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26426912 uuid:45a5783b-3891-4965-bbf0-1488a1db496d phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:14628289 uuid:94a449cb-fef8-4ebb-a07a-eff708e6796c phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:14628289 uuid:d300b37e-92c3-460d-86f9-c120b22004de phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:14628289 uuid:d76ee568-f84c-4bec-9455-fb2a8cbfa3fb phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0000848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:14628289 uuid:240d4841-c9b7-4906-b2d0-eafcd508e514 phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0000859 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:14628289 uuid:04bf984b-ae56-4253-927c-414da2bb55f8 phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0034049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:14628289 uuid:13a5da54-b370-4dd6-b479-06bb02facb11 phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:b9fd7f2c-4174-4f10-b2a3-6e0d801ce88a phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14628289 uuid:8050e51b-f248-4eec-b430-f794e5875978 phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:14628289 uuid:7ea9c3e9-91f8-42e2-9425-abc9806c7a9f phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14628289 uuid:75498da8-a6d1-4337-92a9-501d1e61e3a2 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:26136118 uuid:05d2542c-fbd1-4624-90ea-973551219a6b phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26136118 uuid:8807b9c3-ab02-4d60-a632-15124a637255 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26136118 uuid:a3261ff2-a9f7-44b5-b951-b0b37b20dc0d phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:d1868d00-bcf0-43b5-82d2-073003eba5f7 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:4eef0858-c53d-4c45-8d20-9cc13177ef3e phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:c6e241db-7d02-4bbc-afa5-ba0e46f90f87 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0012637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:34d71a0b-54c8-4346-8fe2-384c0c602665 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:34fb12f8-dd4b-4bb1-8876-1f06d15ae0f9 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:1769794a-06b4-4624-b6b2-e19e1c33dc56 phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:33044b2d-75cd-4b41-a5b1-e7a99d95991d phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26136118 uuid:59a075c5-44a6-46bf-a9eb-c6b81e792adc phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:26136118 uuid:3a71ce94-e016-4911-a691-a29053f05e2c phenopacket.store:CLDN16.PMID_26136118_patient biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26136118 uuid:7e8e185f-3a8e-4402-a55b-a1e36f2046a3 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:25477417 uuid:54b30229-74aa-47fc-9cd2-c429e84920a6 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:25477417 uuid:a1630b41-f76f-4acd-b5c3-dc11173a6a89 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:25477417 uuid:d00403fc-343a-4492-9957-070683ba0a50 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:96f1c94f-f457-47e8-a6c5-5411f7c44439 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:bfe9d793-e667-4496-a969-faee07bf66a0 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:abac50b7-a016-45cd-a197-7b2bd906aa67 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c80d5504-543c-4cd0-b4de-df1774319c1f phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:1a68512d-f80a-453a-aef5-b3b35cdf17b2 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:2d856d10-e35b-451e-a1ab-285b6f02684c phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:90022842-38eb-4726-839d-59b1db58406e phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:68414d42-2ae9-4a18-a6b5-277ba0e88a25 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:1006ef29-549f-44a2-b11d-3e478e90ae5f phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:8b0fad29-5c0a-49cd-80d7-82820ac8e1ce phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:47851581-60c6-4d44-928e-07eec12f176d phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:02605d2c-a755-4cb2-a3d2-44ac0e26774f phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:06251b11-bc7f-4ce6-80f4-a39a732c18c5 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c17371c0-2c7f-44aa-8941-0a11bcdc0bb3 phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:7f88c1e2-c21f-404b-8188-684ad2c8bdcf phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e7c5e403-87ec-4047-9b74-cd7463a1266f phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:25477417 uuid:ecf1afb5-bfb6-4074-a5cb-032a453e513b phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:89032e67-fb4f-4f8f-961f-a4f008606b99 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:b507e9ae-c8c1-4223-a392-5a10ac6a56ea phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:44fb420c-56b9-40c1-bfbf-b67635613ee7 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:aae69ed8-87ca-4932-9009-b00666b038fb phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:db7f2567-63c1-4982-b2ef-92d4b8fab92d phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:a4ec5b07-c331-492b-9e23-95f5908daf38 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:01b9cbca-b072-4122-8c15-99a8af4c0404 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:96d63a1a-fa9d-4464-ae96-a78bd8d69da8 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:3cb61674-4080-44cf-91b6-d0fb68fabf17 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f7952e56-64ea-425c-9896-3319947fb1d9 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a61c6a87-b330-412c-9e46-c0bfc63689f4 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ebb177fb-1fab-459b-ab56-ed47de73a599 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:dec62fa8-1748-49c2-8003-b94dc580a5e4 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:dbe62eec-4246-4bbd-8f2a-66b19a1412f2 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:eb271f8a-51f1-411e-9060-439f9156b301 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:48fae463-5ccb-439b-bb12-6e46e92fa9aa phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:40ac5338-39b0-4cb5-85dc-844f378bdcd2 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:aa07ba6e-9910-4f41-9251-7472797589d7 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ec3dac1b-e534-491f-bc53-d5d1713b7787 phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:49307e16-9c6e-4415-8b7d-40525f080d2c phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:25477417 uuid:6d3e7866-657a-4493-bc3b-90de5a41580c phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:5b5546a1-bdc3-4f44-bdab-90e43eef9621 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:25477417 uuid:f705c21b-0cca-456c-935c-7e36b36f7229 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:25477417 uuid:8c5e749e-e81e-448b-a037-9244aebff08a phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:25477417 uuid:426c5f56-a938-4477-9da4-95649ec4826d phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8c81e558-feec-4d29-9324-41abdb6736c9 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:906c3947-7c95-423f-9731-1ee09f44bf46 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d46e0926-875e-4cc2-ac83-55c7bf00ed43 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:077df080-5113-4dbe-8122-59f08fb7e944 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8e3293ca-a5ff-42f6-8aaa-28bd77c1a6f1 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:39917c84-ccf2-4d6e-a194-fa92b9170573 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5d363748-951e-4cd5-b84e-4d7a514d8e1e phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e614c68e-2750-40ee-8ed8-d52cab3e0a7f phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8af45e12-dca9-405c-bf0a-cca51cb05c6e phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:87de32c4-ec82-48f7-9781-bbf9a4939694 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:674f63d7-ef19-44e9-8e77-32bf7c3c3a4b phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:06d92ce6-f5c9-4608-b914-e3ec7d8dfe51 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d2efdc84-1413-4f08-891c-1aecdb4d9e31 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e1339385-e2ef-4735-84f7-e0d291a9fe62 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d7b11b45-a3f8-4be1-ad09-6b07b54440f0 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c8db6a6d-e844-4a48-8240-322fae72ec53 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:93c38a22-2575-4bda-93b1-b25ce70ab7e3 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:25477417 uuid:faa42ff8-96fd-4033-9d92-d89d9dde3538 phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:abb6ab21-e304-4244-9d4a-52ea86201558 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:16501001 uuid:75a93a3f-9a21-46c3-9161-8c2eba21c224 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:16501001 uuid:ef851a79-871b-4e46-a2da-a3951249a432 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0002979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:16501001 uuid:3e94b02a-1e02-4509-b9e6-250a7202b2ff phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16501001 uuid:81b7544e-d3d2-4dd4-8897-968dfcf7a75b phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16501001 uuid:8ea391b8-1c8c-45aa-8788-306d13d26d69 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16501001 uuid:965d2bbf-b4e9-4731-9b0d-accd825cea2c phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16501001 uuid:840c025c-a3c3-40db-b7c2-2f5f7a57057f phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0001941 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16501001 uuid:56cf9917-92e7-4d12-a5f9-babee35bbff9 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16501001 uuid:fded3047-40c2-4b87-85c8-3fab47502866 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16501001 uuid:3524d1c0-4b78-4e55-a551-bb8b41244409 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:16501001 uuid:5e6a4e01-76f4-467d-ab2a-0f103173fb15 phenopacket.store:CLDN16.PMID_16501001_patient biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16501001 uuid:ccf663d0-4ddf-426c-a936-00bf23d0514e phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:7bbc73c8-0d21-452c-a06a-4e34380b44a8 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:82482f08-f0fa-4f49-8d78-f2d5e91a91ae phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:97152f23-33e9-4222-a38a-e3acd8701ab6 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:4bb8acc6-8383-4144-803d-f8c6da749d42 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:caeace3f-4896-4504-a482-5934bae8d4aa phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:a93248b7-f4ff-4447-a705-f2784c91c414 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:58c899f2-3da0-4d44-bf97-5ebde2b3616d phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:cb6e3e9c-e296-431e-855f-0f04edadd92b phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:06361673-69bf-4fbb-a561-e8e459481b53 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:573d3bf1-d10c-4375-a907-34390a98ef3e phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ae54dd3f-8832-417c-9990-a27c41c3ff26 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b61ce7d9-30d7-4455-976d-536a8e982a03 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:834e49e6-b2b5-4998-a3e8-b22ddd895923 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:294fce53-ed3d-470a-88f6-e49913914279 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:8e37ee83-63bf-4de4-b45a-3deab26d0c54 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:07f3999f-169a-4e2a-b1a0-26c7c4fd2fa4 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:edd04f32-49e1-4740-b90b-0483a92203da phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:41d84021-2eff-4087-8f7b-620abf4ea36c phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:460fd2c7-291d-42b3-b52d-86dd0fdefaa7 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:25477417 uuid:0cbbcccf-870b-4ff5-bd17-9ddaf260bda1 phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:2b33526f-de4e-4326-b6f6-9eaafb8a525a phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:c3803759-1989-4638-8fdc-771167deeebf phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:2466fdd9-8e95-46d8-bc89-de2b8ae7995f phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:f013786e-50c1-42be-9c86-c510353a1085 phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:2571a673-da82-49ff-9587-b0181c8c6d65 phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:158d452c-4bc6-4aac-8bf9-36e18690f42e phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:1d5dfc6a-8261-4be5-a0e9-3463f35aafe2 phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:5886001a-bf62-4aab-ab9e-2069ff13044b phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:83a918fb-776d-4eee-9116-80e975882830 phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:24321194 uuid:dcf97578-31e3-456d-9197-c5e4442b0e31 phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24321194 uuid:97b7e057-b84a-4ee3-8cc9-db4a409e534e phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:25477417 uuid:40de992e-ac74-4c12-98f8-603f0c8c3be6 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:25477417 uuid:092dea4b-bac8-4a7b-bce8-b37a5c1fe305 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25477417 uuid:e77c4df0-3ed1-489c-83fc-bc6e6ba2c029 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5cc4973c-b8d8-49d7-b8a2-3886e9f30690 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:85521937-7a77-4d76-a0a2-fe0de36a25ba phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:4f831291-d563-44e7-b52a-71d5eac3534a phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:96303253-43eb-415e-8df8-3f72baa7cef4 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e0817500-3a6f-4637-bbb5-0e23bd1fc1c9 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:7c2a6669-571f-4ba7-8d90-c7a9f7028eed phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:54f90ba0-018d-41a4-8803-c563e84375f1 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:4c7ba46f-ea91-49f8-a2c2-a51e7851f846 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c50d80da-46f1-409d-bc4a-7a5608f5b0a9 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:5d4b2445-e726-4a6a-be90-69d2738f4636 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:7a6cfaf5-9489-4911-9ce6-f167e2ead1fa phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:dfc53424-397e-4b8e-8b64-0d2e4abe4a20 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c20d95e9-5c6c-49e2-bc49-0f281b399197 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:df3720d1-8f03-4f4b-9976-14d9464dc647 phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f051caef-c2b5-4964-b59e-c5734d7b7a6a phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:13e29924-c387-44da-a73b-8c6e1045002b phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:25477417 uuid:fce33d99-cbc8-435f-a378-400a69ed5c9a phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:9b3f5b07-a070-463e-9afd-cbdd85a38178 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:bb6605b4-e7e6-4d9a-b758-cd9fb4e143b2 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:bd898b1e-88cf-43e0-9588-e81a949dfb0c phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:f69512c5-9742-4208-8c91-3b225f30045d phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5e0f98f3-e5cb-45a9-96a7-8312a61d6c14 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:50c8dd50-f7eb-4c35-a993-8ca26eab4845 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:2829afd2-c403-4afd-b7f8-867d76bbd87d phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c740120d-adcd-4d12-b1d0-5f4c4f2f5281 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:52c10db8-7ee6-415c-a148-67dac8f6b1df phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:2d62034b-dfd4-44b6-8ce0-51e1241753b9 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:6d20eb9f-9d53-40bf-865a-225771d5104a phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:a70bc112-372d-4fd2-bd59-830c08718a39 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:eb0abf02-a54d-46c4-96b1-8da60d27461f phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1187acbe-207c-4a57-8673-0958fd72c926 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ab0a26e8-1ded-4bbd-b6d0-09ad330e7a1d phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ded8cb42-cc9c-4ac1-b457-c01b5792c8fe phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:89b7685f-bf97-481e-b8c6-e7869ffbddce phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:68c7d635-5027-4228-bafc-bd7c68c43881 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:1d71c98c-0b7c-46c8-9555-c18b90c768dc phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:82207ca7-389f-47e8-a709-57297c4582f1 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:30578755-7cd3-4a96-9898-353d2a78f560 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:25477417 uuid:dc0a50b3-f5cb-43e7-ab7e-0ae1f9e38cc2 phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:4f11bfde-6ef8-434c-9504-27b034e565ba phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:24321194 uuid:fc924c35-8de0-429c-90f3-b9f009645044 phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:f08fb528-be61-4969-882b-b591f3b795dd phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:23ea308c-6249-4dc4-83cf-5bf6442a93c4 phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:6387d658-b596-43ae-be96-6878c32cc3ab phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24321194 uuid:6c00729f-f25f-44f6-b1c4-ccff92949d2e phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:72c88db9-3f4b-4e4d-93eb-f6db637ff328 phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:6a7ee458-0514-4250-af07-bbb5662439d0 phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24321194 uuid:82a4d0f3-7c10-4b3f-9a87-7ba399562617 phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:24321194 uuid:f42255b1-3115-4b49-a6ba-afb722305688 phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24321194 uuid:a0c475f0-a7ac-4c0c-b3d5-69aa8b33b411 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:25477417 uuid:4401f973-49da-4f83-ae79-7414c86929f2 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:25477417 uuid:1e7ec368-95d6-4be7-bad7-c9dadb8b9e47 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ae5f2ab5-28c0-4052-9a53-b70d6fa1aa96 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:194eb52c-7cff-4706-8990-9c4194e81d12 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:a209a58c-f43d-433c-aef1-d83062bc084a phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:344c08db-f3f5-4d4f-933d-88d37c5f445e phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:3f5ab922-2758-4f28-bcc8-11e818c176dd phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5a3563fc-1fc4-412a-8fbb-87fd48bd3bb8 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:7a51a03d-5181-4ff3-b93b-f133a2fbf541 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:89bd236c-d352-458c-9a4a-6ea25eec8fbb phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:6caa89ab-695f-4096-b055-1d7d95412d25 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f1b8df1f-cb67-4f25-a7a3-617f14e76904 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:8a4c3cf5-cf59-4e60-8cac-4686998293ae phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c6e8c64b-3279-4a8f-b336-ef2823ee4ca0 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a3147b1b-9083-4e09-a788-d4132257e335 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:7706aad7-a5bc-4d9d-8b7b-34127edd5676 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:b3f358bf-6103-49ff-a080-25687b1d3f17 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f008c908-6175-4ac1-899f-d7b34eb42b7e phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:472d1dc5-f84a-42f3-aa7c-186eb2f7df3e phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:91b768d4-821d-49ae-a075-a595ed9b98d1 phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:25477417 uuid:7afbb05d-adac-4a2e-8794-97385ee79aaa phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:3d51b96f-42be-41db-9e6f-24646341dd23 phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18M infores:phenopacket-store PMID:18816383 uuid:15e11980-2d43-435e-8de3-9595e8159a79 phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18816383 uuid:12bccd6a-7953-4c4e-a385-b0044eaa5914 phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:18816383 uuid:6ee703fe-e095-4486-ace1-8d7460633004 phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:3a6f98c5-0f4f-4aba-8dc2-61abf4f35b6e phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:bc5cd866-a97b-4ce0-b507-2eda783724fc phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:18816383 uuid:03c15a21-b574-4de3-8aea-80b79df17f16 phenopacket.store:CLDN16.PMID_18816383_sister biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18816383 uuid:05637f20-d73e-427d-8629-88303bc9226e phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25477417 uuid:d49b6b80-a8d6-4dc5-9659-639b8a3c8462 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25477417 uuid:fe87a36b-1075-48b8-8fab-e99cc5818619 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25477417 uuid:a1321990-e683-4ddc-8e60-5f8d2f344e14 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:49ce4e04-f764-4541-bd63-232c8889b753 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:85d9cd07-bd92-4dcc-bf7b-00ce795ddad6 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8b9cafaa-ad58-472c-a2ce-e28570fb8bb1 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:71b820c7-1861-4f2c-bf24-90f2be6a73cc phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:631581fb-cb4a-478d-9534-3f20b1b5f61c phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:7be1a73d-95d8-4cb2-aff6-3e0a35a340d3 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5fe49803-0273-494d-ba3f-c6a5b3938c6f phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:054c59e6-9d1a-4766-8ec9-5ac0f424e81f phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9a0b1ab0-723a-4561-82d6-b9663de3ba05 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:628af7d9-44d3-4b84-ba41-d4155fa8ef21 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:468806a3-43a2-4fda-ab57-02a15c5a263c phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:0d743d2a-7f7c-4774-bc72-9ac6f70d6525 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:2e3c2969-a931-47d8-a691-40ccff9f0194 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:534e5ee6-7eae-47b3-9b47-29bae4127861 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e7fb1bb9-43e2-46d3-a856-d0bd4a456e5e phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25477417 uuid:464e8ae4-1fe9-4a55-9b53-9eea5477daf0 phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:cf579c63-b532-428a-9f7e-3b25b9622f87 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27067446 uuid:3bb65e4d-f236-4ffd-8734-5abb1f21c16b phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27067446 uuid:1e7a2dbd-5f41-4946-92b1-c7e42173e708 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:27067446 uuid:2d129c39-cb78-4e96-ae7c-01525b96a2bc phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:cee79931-d165-4eb5-995c-dd6751f062a7 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:a1c51819-5a61-4551-a516-111f55750aff phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:ae36a70d-f51f-4a5f-8342-1ac0a46b3b10 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:bf79b94e-2cff-44c5-9150-64b87bbd4eca phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:fd924d02-25b4-441b-b248-6eb9e918aa36 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:a5df2641-6142-4e63-91bc-c72fab62bcd1 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:30077fa2-b96e-4edc-8226-0fb4cabe90eb phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0031425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:b450f2dc-2727-4667-a035-a7056426d308 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:6debcfd3-8393-4c0a-b2bb-81e177a2f59a phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:e9c2f70b-54e5-4064-9b91-ae143847e547 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:32e7994a-b37f-42a2-b32f-a74b1ca9a3e1 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:8ec966e6-f0d9-473e-acb9-d3f405649223 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27067446 uuid:77011bd2-6775-4fb2-95b8-e8edfadb6351 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:8c3cdae1-ff06-4e5b-a3e1-b78dd0a1b875 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:9e2ac646-6921-41e6-9fb4-4c30e02c7cd0 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:890a5d73-9c09-4bf9-bd28-48b477ef8f86 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:27a6b80a-b5f3-47b6-bb26-c845cec5ea42 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:3f9590fc-36e0-44d9-bb86-e9a65f5dcb55 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27067446 uuid:b9390b2f-2435-4702-9280-2fdd4e824019 phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:27067446 uuid:f220c28f-512c-4770-baf7-56280d416def phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27067446 uuid:96fb2a74-d737-4725-8bdf-41421be7b3e2 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:25477417 uuid:447857b9-8892-4843-94a5-593791a1fff0 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:25477417 uuid:486a2a5e-6cd7-493c-aab3-0bfd53a24765 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:25477417 uuid:43308e22-9276-40ac-be89-707854454d98 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b9f52233-88a6-45fe-a2f2-59a86df6fce2 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:99812ce8-81a5-4d40-95e0-f63116fd0575 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5c1191ad-7caa-4131-b6b7-c59147b5a10e phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1909f69f-d9b4-49f9-9b50-865824e08e91 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:840819da-fc5c-4d4c-a422-760d9acd6143 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:68efffbe-23b6-4bf6-8323-33685b960bac phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:58dcdd66-d9b5-4bbb-86db-fb910bd7af18 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:4d364a92-96a7-40cd-9a95-891da0757b67 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:24f574ac-b352-4113-9808-6a6194810c09 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ca365077-8a94-48f3-aa01-018d595b457e phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:c898259a-cdab-48ed-90b7-398029e16b80 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:80825953-5db7-43aa-b310-d2cefded8eff phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:6be2d3f2-3c30-487e-8833-548bec385045 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:da2a30f3-2d48-4eaf-9b1f-3c6e017a0c0b phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3fabeca4-1efe-4690-9889-f99bf41ae858 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:76717bd4-1e56-458d-b7ee-0cbf7b8ebb7e phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y11M infores:phenopacket-store PMID:25477417 uuid:cdce0007-0bac-44b8-ad48-5dffe373ff33 phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:7911a60e-55a5-4d2d-b27c-5ac6d1c8f781 phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26426912 uuid:5f96206d-9ffc-4f5f-8f59-58ba54b0c03b phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26426912 uuid:08d4869b-6a94-473d-a73d-bbaeb8944ea5 phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:26426912 uuid:a2b8b7b9-67b4-4eae-be84-ca4cb6a9c857 phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:a4370b5c-6c49-403b-bd76-5bdbf490718e phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:b8a0fe43-fca4-4cbd-ad43-e9996944a052 phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0033786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:defd4156-a963-4645-96f9-65e2e207a9fd phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:f77188af-e140-484d-9e89-2ab5bc0ffde7 phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:26426912 uuid:3079985f-5e31-4781-bfc3-c7e82c36ac41 phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26426912 uuid:358e2725-30b1-42b3-8c3d-3e76e9044765 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:25477417 uuid:d6522b3f-4288-43e9-89e5-35bffcb72c4b phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:25477417 uuid:92c2e71a-043f-4f64-b4a9-1fb5e758cf05 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y4M infores:phenopacket-store PMID:25477417 uuid:eb991b2a-863a-4320-85a3-139769fed9cc phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ec3466b8-9183-4311-8c90-8a2f3977c68d phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:36446be0-1928-4ef4-833d-e06818232099 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:38da7ac1-7cfd-4c6d-8ff8-184bdc63dcde phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c06d4a79-8667-47b8-a2c9-ba19e1bb348f phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:51492cda-bd24-4c4f-a73e-857d4a98ff4c phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:deb86e03-a29e-4c1d-9643-6e5f9fc6c091 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:5f044efb-2bc0-4faf-b21f-5fad46a9e41e phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1d1f9d82-ac8a-4a8e-868d-b37d88a161ad phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:29754501-5df2-4399-9854-869aa5c9bf72 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:65376138-acb8-4517-b64f-4568b9c2163f phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4cb41dc9-9b97-4eca-ad21-8dfb5b075432 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:177273c7-416b-4f56-b18b-ed2e77116bbf phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9ac230b4-c98e-4156-94d9-da7bb916d7f7 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9fe1c968-b4f5-4db0-a7cb-1aa4ad5c87c4 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4fef1ccd-e7ca-4ff2-b255-05f10a433dcc phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:84a96812-df69-4c1e-8dfd-7f3918e03182 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:71945520-cdc3-4524-813f-7f5c6ef79c1e phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:25477417 uuid:ec2e884e-c53a-4b57-9a31-4b3469254409 phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:0728aa6d-5d69-42bb-add6-194dd4ccc62c phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:26426912 uuid:cc194357-7aae-4021-8954-48099f26ae3d phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:26426912 uuid:bd05e9d4-ab87-409e-b173-26732def2c41 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:f453f953-c0bb-4d49-94c2-6c6a76b5f153 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:33ea6353-c619-43dc-a27f-536c25d69eb7 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0012052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:50ccd11b-875a-498d-8a7a-03a8f690389c phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:766d7706-8f1b-442c-bb33-acc4d4c2ad54 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:b1989172-5cca-460c-acee-3b402d2ba495 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:32a944c2-7052-4979-a35b-5daf6f173203 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26426912 uuid:d6fef2bc-d090-4b04-b2ae-c361d07a8bbd phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:5d4fcdda-755e-427f-b3ef-0686960ab444 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0002199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:6028baf3-5a58-4389-ab1b-15c6ec4db74b phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_phenotype HP:0033786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26426912 uuid:9df0ca46-5221-4b5c-a163-f6cf61f51006 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26426912 uuid:66af7baa-368d-47d1-b464-e946f5a290f3 phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26426912 uuid:46991ad8-a6fe-4b5f-bf63-a13d45a1e3cd phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25852890 uuid:00573d53-52e2-4d38-abb9-41d3c4e5de3e phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:cb7df2e2-152b-4348-9e32-26dcb673c44f phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:92ac87e8-21c0-435e-8065-c0b6b5d59bf5 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:1aaab6a1-a378-4b26-aefc-feb08e844b7e phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:8ba063a4-934d-4e70-aff8-10d768bf61fb phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:1314fb03-74d2-49a6-b889-fbb8bd77e3c8 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:786e89f8-6d90-4e40-866a-a0983706c84b phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:a5c8b8b1-c560-4c8a-9175-1441029f2d48 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:3e501f73-8d03-4670-9f54-6f5ed746929b phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25852890 uuid:dcff4f15-4d58-4469-81c8-ba72d33a2828 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:7943488a-2b91-4fc1-a767-0aee5b81c27b phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:759ce93a-ac14-4821-9bc7-417e7ce62725 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:af2ec0fe-8d15-4e0f-bcca-475b29a96f66 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:9f318434-97b0-480a-b46a-0f7c77b5aef2 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:a183d5af-5003-4d26-846e-83bca051d8b0 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:c5287038-fca9-478b-9d06-56794e3d5844 phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25852890 uuid:0bbe6a9c-8ace-41c8-a13e-d97e1261e77e phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25852890 uuid:16907e1b-e4f5-45ab-8e93-3f0be29e5eec phenopacket.store:CLDN16.PMID_25852890_patient biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25852890 uuid:18dd0d6a-5722-4237-ba6f-1509ff8e4f54 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:891d4e2d-4c8f-4338-8938-d68bbf398f04 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25477417 uuid:3d7d20be-2991-42b4-98eb-8d8138136d99 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:8bf22142-7884-4f96-a5f2-fe08288d650f phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:bbb9ea65-75ce-42f6-8901-1cdc3cfdaf6c phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:477ee58a-3120-48d8-9300-560f8b6d92ae phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:f342c080-5d6d-48cf-8c2d-a97097aff7dc phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:da1a13bb-fc1e-4dfa-91a6-a18df1a6a811 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:aaff4e23-e2fc-43f0-8817-1cbe00ffedd4 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:26d0f857-9585-4328-9c3f-adacc59f4125 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:0288d291-07b0-4f7b-8421-916e457ee3b8 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e4e05e04-12f3-460b-a318-fd71b3824d6f phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:86c18097-a504-4f7a-a4d9-5d305d9aa77d phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:8dbed4ba-3295-4db8-8167-f732cd1ac6f9 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:70df88b1-1ac6-40e2-912f-71f611276bec phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9d8763e3-199e-42da-960d-5b028c91a466 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4d830154-c7f6-4514-98ec-d5bf34137196 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:b49aacb8-8dfd-48c2-bc0e-eacaea12d3eb phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:60372647-b419-4aa8-a02d-698bdf6298fb phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ace8c554-cd3b-4f38-881e-3e17d10e9e3c phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d60bfa51-ce10-4dbb-858d-dffc06370ebe phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:25477417 uuid:3f603cdf-da4b-4d96-9a97-06684e4b14f8 phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:f44b5956-9229-4634-9cd9-32ebc5bc6887 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:25477417 uuid:bc7df5af-fae4-425b-97cd-889affe4cb93 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:25477417 uuid:91ddc68a-bcc0-4f22-a656-28c647356eaa phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d85e2eb5-dabc-4b85-a36e-4f8310669565 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:febc27e9-81d2-4e33-9879-f02fd7332437 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c7ce6d96-1c93-408e-a7f2-535adeb81ca3 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e8c7a15a-1b3f-4c29-b1c3-01f6ee13ea9c phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:9ee09422-0e4e-4b23-b014-5b75625c34e1 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e876ce91-5692-463f-880d-3a8eb6749def phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:0ca8befc-df1a-418d-b06b-5485a5dccca4 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4187c594-190b-4c92-be71-e038887697c1 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:62aaf737-8a7a-4400-8144-8ce49e7b30a2 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:ba4fb92d-8d47-4fc7-9c07-37e6da3bbf5b phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:f9309271-cc29-49f2-879e-e5a3111b97d4 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:18d052ad-7a3e-458c-9b40-b295ef1db0fe phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a08017a5-38ff-4b79-9928-5cb18014aceb phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e47ac4ab-2c01-44c5-a6ef-717ca06c8f43 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:2a49a39d-0f02-47d7-a5ad-d201a54e707b phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:0e51a0d5-a3ce-47ce-bc1e-98fea8f217a0 phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:5772a335-410f-4506-b7b6-b8bce196afea phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:25477417 uuid:74b55de8-aba1-4d86-b5d8-0380360364fc phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:de449655-e14a-487e-8193-47c654239a49 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:6f29fa2f-6ef8-4f06-ac17-f0e50aadb11c phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:18816383 uuid:5133b523-d21d-4927-ab99-e3ae225d2ce9 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:157c001f-fff3-4b99-ae9a-ad81b53c239e phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:ffb65cf0-caad-4063-b148-6825ca92bede phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:c9b47580-8789-4ddc-913b-f01132183d3e phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:e47664cb-fa0b-4d08-8311-541983407e9f phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:057c58e6-eeda-4a2d-95ed-18c242663aa0 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:a8c111a0-48c9-465b-94ea-053f41c1b15c phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:15b31c0a-3bef-4db7-af6f-574324050c42 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:ac924ce7-0b48-47ad-bdb9-93fd97813442 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18816383 uuid:0675739d-19b7-4a74-84e8-bec9615f35bf phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:daf3f58f-e042-4a22-bc25-20eca90a720a phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:35b63d5f-6fdc-4877-b828-935435f9c2ce phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:ee57aa11-002d-40da-9bf2-4e1ff48afb17 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:83880077-8e92-428d-8ee9-a7d137196be6 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:f7167b73-75c5-49d1-8fc7-70c7761fe1f6 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:7fbf8027-4b10-4353-a62e-8548d8e61d61 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18816383 uuid:8b91c61f-eaa5-4dcd-9ecd-d30949957c21 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P7Y10M infores:phenopacket-store PMID:18816383 uuid:09b412d2-5b82-4b71-bc5a-7dfd08403221 phenopacket.store:CLDN16.PMID_18816383_index_case biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18816383 uuid:c7e2dea3-ba24-40fd-9100-8eb1f5ce7ed4 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:25477417 uuid:c530612c-2b61-4d6b-9e59-b30ee3c1d951 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:25477417 uuid:7a5781fb-008c-4b2c-8dbc-1fe637437123 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y3M infores:phenopacket-store PMID:25477417 uuid:dbcdaee0-896b-49cd-84f5-b68d844416ae phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ea2e7b5b-8a66-47af-9762-e8f6dc9f8cdb phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:a179889e-a276-4017-af7f-779d4ebb5bf2 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:318c2e68-194e-47ef-a784-7ba43369c004 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:cfbce9fa-713d-4521-9fa1-f9f66f7d83c9 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:20085e71-4ec7-4fb2-927f-6e18f866d91a phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:7daab7a9-7efe-478b-aaca-15de4256791a phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:63976c72-0bff-4c06-bf8e-36b49957d63e phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:616ba7c7-ef1c-4f8b-8c25-9582ae6b4658 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:83b03eec-986d-4329-af58-11e1584d6bf5 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:382a3bc6-3577-42d6-a368-0dafa6d1512f phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:7f0797ec-39e5-44a6-ab6e-da13f1a1fceb phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:186912b3-aa5c-4d0b-8665-e0476bb33f7e phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:9e489e45-62c6-4c8a-aa05-7fb7c20197e9 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:d2128e76-f44d-44a0-b2cf-df755707f253 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3f72d886-e680-4e41-ac8c-da41b5444e62 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:dac1404d-b189-4e71-a14b-ec1db931161b phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:73778458-dd12-40e1-b94d-a67fe0d34c4d phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:25477417 uuid:f7da1ca3-7a0e-4d55-85b1-09ff5b0b2192 phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:9900236e-52ad-45d9-9ff8-38c92022f01b phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25477417 uuid:fab46ec8-5cdc-4301-90bc-f72f4132c23b phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:25477417 uuid:a36f3253-d8c9-424d-b183-ed9e0546b975 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:25477417 uuid:83c81c09-3be8-4b79-859b-a47242dae3bc phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:207c3d77-b7c0-4a3b-92c8-f728038cc438 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:21554b9a-2a02-4974-be1f-d2828b9b996b phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:f9cdb5f9-a132-44b2-8bb3-1fe6dd2e7951 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ce7eb0aa-7298-4484-b824-892cb5e47e18 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:90f7d839-49dc-45f2-8865-d6ea82cb551a phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c346deba-e61e-4e59-8acb-3675d2cf0425 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:c710a76e-1351-49fa-857a-d8a6629c2eb1 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:6c3ad14d-c3be-4848-a08f-c2d15e860f58 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d346c350-e728-4d11-911a-c3ff0b60e9f4 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:1e7aaba4-5404-4b12-9543-b9837c9ea74c phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:754676ee-a375-48aa-8eca-292cd288cb71 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:b9b87533-b855-4d6b-aadb-6eb55bad3227 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:34e1b1a5-2bea-4622-97af-63a8e408d865 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:a3117f86-74f4-4281-b3dc-42796dfe5bd9 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:7081e3d5-7ec8-4200-adb5-a32411af1fec phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a82c4522-a639-43ce-8933-46b78bfb2c56 phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:25477417 uuid:2d4935e6-6081-4839-8de3-ab2cf6c564dc phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:53cf9225-e6c6-4956-bf41-5d7068ef5b49 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25477417 uuid:d431bd0d-bba0-4d9a-a73c-f5bf91a06255 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25477417 uuid:7c32f738-b3d1-463f-abbf-5caa67c1b135 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25477417 uuid:b7964d1f-b332-4f30-b66e-a4f129545b44 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:845ee911-2b4f-448c-b6b2-a8faf29d55f0 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:e422291a-98e1-4d3b-b958-2ccaf51132b0 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:6888bf46-4970-457a-aa97-676667fbf46c phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0005567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:cdba03ea-39f4-4462-b5ce-1a8151d5766b phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0100586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:d4f9c871-2209-419b-9859-7fe320e90427 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:ee1dc0b5-bb74-44b8-a2dc-4abe973c0dba phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25477417 uuid:38bd678f-d63a-40b4-abac-ee4259267a4b phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:2f9e7384-8f5e-4fc3-b96b-2eb86b40fe06 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:b5d9727e-0cf9-4102-973f-a7d2fe3d5d9d phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0012405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:e69ca07b-b16c-441f-b2ce-5b88f5aa82c9 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0002907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:4a24a395-aaca-410e-90ea-20b4c4e37cbf phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:a17b565f-051b-4e49-8887-94df1ba9684d phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3f360428-7a82-45c7-ac2f-6006cdb41479 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0001281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:5d6f8ded-67ed-4636-a414-192cf2d41242 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:3bf61abb-6a62-4e4a-a478-00e037a22ced phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:187ad7cc-d7de-462d-b9ca-8ba393f784b0 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25477417 uuid:fa6a4700-be5b-4ff4-9484-3ea9003704e7 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:25477417 uuid:7350a899-195e-499e-981e-56251544cfc1 phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25477417 uuid:7f7880af-1d55-4967-b7e8-6c47e8e74f9c phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16705067 uuid:ba20b639-ca2a-4da9-94ff-cf86c96324f2 phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16705067 uuid:0012c9b6-9f30-4979-ba54-1c174b32d253 phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16705067 uuid:f507cd75-e80a-4999-9bb7-4f6cf4f25d8d phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:16705067 uuid:4f613010-ed0d-4675-a3ad-8275dc8bfb0b phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:fd4d7e1c-0b3c-4648-96ad-ba5d039e1a0b phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0002150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:6546a431-ff7d-4083-a759-1a977d2d3ae0 phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0012608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:0688cb66-5d6a-40f7-ab22-3b191f931553 phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0002917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16705067 uuid:a1899095-4fd3-4fbe-997f-1b58a89bae47 phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16705067 uuid:aa77d1fe-04f3-4fad-8638-8b950439218c phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_disease OMIM:248250 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:16705067 uuid:c34d8672-c4b5-43ed-bc5f-613f9fa1f944 phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:has_gene HGNC:2037 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16705067 uuid:ce1f8df4-6069-4b64-b2ea-fb40630266ab phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:ddfc1615-cfba-4967-8bf6-bdcba2aeab58 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:cb3424e3-233e-4743-ab61-c5be9f831da5 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:358cb775-70a2-43a7-af6f-a45522f26c06 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0034196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:a1aa7443-d667-49a1-8173-704e367c8fe0 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:ae61004e-953e-457e-b31f-0009a6bcb42c phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0002198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:ebb2e745-847e-4973-8173-1e8660b92b9c phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:24ac15d2-fff0-4d10-8ed4-b26b51cc40f5 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:857854c3-929e-4ce9-a4ff-5a294685b9b8 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:3684fe5e-2c9e-4827-804f-ecc16d0f3305 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:5686c5e3-66c6-4de4-a2d4-3dc38258831b phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:abdb95a2-8d13-488a-848b-5be28e971fbd phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:fe99eaad-f3d5-4c7c-a672-6eb0ad06f824 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:b5415e46-9d86-48fc-bfdb-fc9ea667fcde phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0001748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:d09394b7-c315-4f99-b58a-df77814d1280 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:467afb71-0750-46f3-9c74-cfe3e07e659d phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:516e54aa-ad4d-4ed2-b3cf-b251eba70d90 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:13b79e48-3344-422b-955d-f3d424bd334f phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_disease OMIM:620642 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36727596 uuid:b3778b55-14c7-47c6-a1d5-61fe0e8ff221 phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:has_gene HGNC:25678 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36727596 uuid:2032a42a-c1b4-442d-8b81-0cc4cada76d9 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:dfd1e94b-15f3-424b-b304-e8e0979dbc2e phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:f13024eb-9dea-4d83-ad05-ca2acacc4eb7 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:d9cee544-2835-48ec-a4fb-64e355110f67 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:ec0e315e-528f-40b7-a6fb-c32d22cd3e4c phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:19eda236-96c5-40e7-a0f8-ce0d40cba815 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:6b1db9c3-ffc6-4c65-baf2-d01d4491d273 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:02fb0834-c268-4b93-a836-d8177c8ecf0c phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:5bf81fec-22a2-4f55-b6de-76c8ac78f2a3 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:ebd71545-14e0-4aa6-9bdd-cd7f4a39dc2a phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0034196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:9989f222-4b24-4690-859a-f9dcecbc2b20 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:6f6ed452-4bdb-4dce-a7b9-925968263822 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:563fbb04-47e0-4b32-94ba-809f34053246 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:49765952-77f1-4414-b3f2-45ccfa61a38f phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0002198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:0680406b-b38e-491e-8ae1-2966d2d2cf58 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:60f0c1c6-61aa-4b89-9d5c-e359e012d8e4 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0001748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:43d82108-a044-4f92-a61a-13bbf8cbbb4d phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:97ce5b89-c9f0-4802-9550-bb784d2af2f8 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_disease OMIM:620642 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36727596 uuid:07a8e123-60ed-4586-ad1c-426899efe468 phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:has_gene HGNC:25678 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36727596 uuid:149502b9-cbba-4457-9fed-5ff1c4a263db phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:10085843-8773-44ff-9171-702000b4650d phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:49ec4a94-ea46-471a-b734-6a0d7911d15b phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:ff8fc01a-dd5d-447d-a294-06237fc03cdb phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:31d25d08-6c5e-42a3-9aa8-cd69c1311345 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:f2d6ea54-4b70-43bc-a705-e7ffdd1adba9 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0001748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:ba9d194e-721f-4ac8-8283-5c78674d8a24 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:9823a11c-85c5-4ad5-bfae-57d4e75c55ad phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36727596 uuid:43666184-6ebc-4ec1-8d2a-de754d8cc8fb phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:c44e4b2c-8613-465b-8677-874b13f3e936 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:20218a39-e1ad-4acb-a324-0b079365eabd phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:d4c8d366-60ef-4076-896f-1bd24dbd8422 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0034196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:18292e03-a0ff-4e7c-b288-fb3476761fee phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:bed920a0-fa8c-46a5-82b4-60408270214c phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0002198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:a35111fe-64d4-486d-b5d8-527decfc1d34 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0006270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:598051a7-4ac7-45fe-8bce-cd2f5d788698 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:02390176-f13f-4d57-9516-7cb806641185 phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36727596 uuid:d5a94642-448e-484b-ad47-201f763edaed phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_disease OMIM:620642 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36727596 uuid:c470c837-d095-443e-ba16-744e1847041e phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:has_gene HGNC:25678 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36727596 uuid:5c73f5bd-42e1-4440-b0c8-d96a05193939 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:cbcfa763-bf96-4c6a-af8c-5f2d54fdcf91 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:f5d6b705-6e7e-4b93-9731-9135aa785f3a phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:224b19a5-c49d-4941-9dd7-7c31d8c08fca phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:462e034e-e8d3-4ec9-be3c-5edcd888ef26 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0025041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:a358d1fa-9ba2-4b57-b8cd-2c51de0be1f6 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:25808e9f-0c9f-46b8-bed7-03c77d860701 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:1f2d340e-cbf8-41b7-9bfb-11d9b144e7fd phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0012229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:20b12fd7-39ed-4915-80df-e9bc967e1b45 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:843aca3e-a300-4ed1-8c92-00d42c498d94 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:4fca6735-16c2-442f-a499-34b91a3ff954 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0002401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:e7b10517-b72b-4f41-81f5-ee351a103ac1 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:ccf56440-087a-4e52-865c-0358067ee2b2 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:0e8c0e4a-9ebb-45b5-b7ae-3c11b12bc8e9 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:728e82cc-17b2-43f0-8860-afb80d4887b1 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:b182237a-8b6b-417a-b63f-e711a99d9f50 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_disease OMIM:621018 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:36443312 uuid:af9cfbc3-92ee-41db-b42b-9acbe1ad6ecd phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:has_gene HGNC:27015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36443312 uuid:bd027916-b7f1-42b1-bd3a-f4ac36e92778 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:1085fc3f-b672-4436-b6e0-71307fb295bd phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0025041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:d11edc8b-bd7b-44ac-b46d-7973faf6268b phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:090270c8-59ee-4465-8901-35e64211edf0 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:4b43d20a-e09e-4dc3-92b7-8a608281ee74 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:2712aca8-cf72-451a-b1f8-45725b76f826 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:007d3ea5-1ca4-467e-aaa1-c754765577fb phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:34df0124-e337-41fa-9b18-8991c2da8752 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:b1af8172-cdf5-47f8-8b67-7ab5a5ab053a phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:84418010-3055-4c31-bf8e-08520696f85b phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0002401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:b777ae8f-4108-452e-8e73-659ce7d5b930 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:04c9b61f-0734-47e6-ab1c-e3946506f779 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:999d0534-e23c-48b8-8e46-5e98bac7def0 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:9824ecdd-fd31-440a-a290-fce173738726 phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_disease OMIM:621018 biolink:CaseToDiseaseAssociation manual_agent observation P44Y infores:phenopacket-store PMID:36443312 uuid:08de5893-7544-401f-b7be-cd6c02e983fa phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:has_gene HGNC:27015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36443312 uuid:856b5244-c7df-4932-93a5-bd41cf925596 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:36443312 uuid:71c29770-6eaf-4e00-855d-607776a7d7c7 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:36443312 uuid:c7172160-3731-464f-b501-007a5505bd75 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:ae0f9fd1-2a84-4212-b198-29bed1652569 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:e996278a-5a19-4710-8198-7115b002a809 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0025041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:c8ac095f-32cc-452c-95c7-3d227f83ebcb phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:3e5aeb63-e97a-4b75-b474-6dc78be71b38 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:935814af-4429-4a3d-b18f-bf920d3a3ef8 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36443312 uuid:a51b1f05-9bec-4e47-bc73-8a080927c525 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:b03a0c58-7fb8-47bc-84b0-ee884b4db4cb phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:03fefb2a-765f-457b-bd2f-9538a7681995 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0002401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:f0504f6e-63f3-44a9-852d-e80cfc926e14 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:a6c631dd-a83c-48e2-b4d5-d9f3116cc982 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:08c02864-f092-4e1b-87b7-0aa3b05bcf12 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36443312 uuid:13b5c427-27e8-4b48-815f-1ca5cba320f5 phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_disease OMIM:621018 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:36443312 uuid:e31ac93f-a83d-4c30-ae7c-af9fbd5be54e phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:has_gene HGNC:27015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36443312 uuid:fe46d222-56a3-43af-9bab-0d630eb6eb27 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:fff6ec6c-538a-4b4c-b670-fa3b82c0b305 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:f9104a43-fc8d-4789-9750-98046baadc63 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:fae84943-034c-4bb6-8676-c747fab94c61 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:97ad3638-96e9-4e5b-9db4-0c5f9753dfb3 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:b22f18e2-f68d-4f4f-8c2e-4281e51d6352 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:70bf160b-6e57-405d-9ac9-47b3ea3e3122 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:f25a1648-df06-4f48-9069-9d3db0c38b14 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:80a1bac4-d129-4ad0-b5e8-29625013f1fb phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:a5b8483f-597f-4347-a389-4bec50311117 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:98dfa6f7-3d46-4f32-ad36-48a5e9f3fd46 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:317b8918-14be-4d97-aaed-c82b8b55119b phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:4e9a7964-e1ee-4ee4-84e6-e47e7a937ddc phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:17434177-e2b7-4248-8540-8487ec0d551e phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:89f51fe9-4ddc-4ef7-b1ac-15393c395fe3 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:13f80dc2-29cf-4113-85c3-0607f5282639 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:362a1cad-c94e-4177-b7af-2886669a5627 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:f9d873b2-83cd-4da2-9905-d2037233be37 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:abab8062-199b-4d89-9438-dc13d190eb67 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:995fe5b1-69b7-4d44-b19e-e9003ea529a8 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c165b123-32e9-467f-8e24-84f059105b72 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:82b69bf3-bfb8-4e33-a888-5153f11d9d8c phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:2274f897-5abe-41dc-b08d-217b4a0192e0 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3197c6c8-779b-489e-b919-77cbfa78ae6f phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7655b9a2-2c4a-44d2-9701-f73a5c7b2cc3 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3e652122-6401-419b-89a7-eed1b5837b04 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7f6b97e7-4eb2-49cc-9db9-44682d080670 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:4ac468d8-19c2-4bc6-8125-7ff8bf73fe57 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:39e2f4bd-5ac5-4d20-bae9-83bc3b144c07 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7b08a20f-e030-4b1c-8adc-e80d801d7edf phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:24c905e0-4d23-48f3-b1ef-531ee7b8e433 phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:e1e9a2e8-3f2b-4332-b771-d73928f786db phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27066544 uuid:dd6f2912-70ed-4fd8-9ccd-197ca49e5828 phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:f9824c0d-0f5b-42ea-9b97-067ab0cd8c9a phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:3d104a8f-73cb-4949-82a7-fdac42643fcd phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:be7b0f4f-a20a-42bb-8a45-d6cfa5c9999b phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:27066544 uuid:112789f5-9048-482f-b393-ce0e8fef4afa phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27066544 uuid:e9a71246-348e-46a0-8ff3-980e0f8aea3b phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7286e893-a7f5-4370-8f30-ab92e2c8045c phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:9fc3d898-e156-4b25-8276-c7492ddeef8c phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:8c0a38e1-787a-44f6-87b4-a3096205b791 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:8f343799-72b4-40f3-91c5-57c1d4f899cb phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:adce4f61-ab7f-4802-b006-0bb72cee7db3 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:d6ddf137-6b0d-4912-aa6b-1eb3eb772ff1 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:6c4f2fac-3436-4ed0-b377-975af2fc5447 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:26cdddfa-e76c-474e-9799-817bc27c3a5a phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:354ea86b-6f90-4cf9-81a5-26d3edd4fbe9 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:e5d43b1b-2c4e-44c5-9dc8-ac86b4938fc0 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:a8367b8b-6fab-4576-90b5-a01c6d4a7dc1 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:da9f75e0-8850-44f9-aa73-86487c77135e phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:cd258b3a-4096-4c0b-8a70-6d6ef639d35f phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1d09498e-79e5-401e-8830-005ae5a2537f phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e625343c-7e69-45c6-b174-bc69a8328824 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:09712a20-6afc-4a56-a75b-fbe171aa43c6 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e152ca47-6ade-4110-aba6-1c502adb663b phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:836a9531-d211-4ada-9f69-f93b315b429d phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4289e130-daeb-45fb-8d1e-caa3d1e3bcba phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8e41cb87-b71b-45f3-bdb1-ac518779e86f phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:959086d3-b2d1-43f9-ba9f-98b4f4a4aff3 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a582e277-81ad-4359-911d-4104ef95e6d1 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8afeee6a-ad70-4f9b-b112-3132b5df1bc7 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:87a17daa-b106-4390-9b3b-e820ba248f8f phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8e83726c-709c-4ce1-bcbe-a865ba5bbe95 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9605c4cb-d1de-4093-8dd7-301e6172a2fe phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f9992ff1-3b21-4c2f-b4ba-ef496ee4060d phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f4ff8103-bc45-4f92-935c-c27d4baf0879 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bec8efed-eb36-4340-8c67-8a7f0ef44138 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fcff7da1-ebaa-47c6-bb77-070170e0eec5 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b8596af2-333a-461e-9094-59ad77f5c201 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7e23d664-75b1-4d70-9357-4bf5215abc1e phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bc243daa-f158-4ef6-ad99-89b862c07e84 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cc296ac8-d1e6-448a-87ef-3e9b610a286a phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e4804f1e-3544-4d65-b289-a64f8138a31c phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b667fac9-4cb9-4804-ac18-d2340b71fdb3 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:770e03b0-5e17-444b-86ff-ab6b260d7827 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0fb31c83-888c-4d42-b63b-27985b4dffc7 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e9dfff91-f670-4743-ac35-7e76a296c9ec phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:57f98a82-22b3-42bf-9316-78d1ee38c707 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0ad829ea-731f-48c5-bb1f-b4d49e0e231d phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1255211e-3208-442c-b77f-fc8810a84cc7 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2948cf5d-ef9e-4e68-a6d5-be0d4482e5d6 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P17M infores:phenopacket-store PMID:37183190 uuid:5414329c-6552-4738-8a90-336eb39db1b0 phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:d07dbf37-1572-4449-917c-72ce7396a83f phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22031302 uuid:8f29429b-1437-4197-a303-92c0089e2313 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22031302 uuid:df6fa69e-4a2d-4b27-a505-16cd7a238597 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:9c63b691-688e-4926-887d-f2c1c30f8fe5 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:4f65ddb4-944b-468f-baba-e7c5ddd2e690 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:b733abe1-aa62-460b-b8c1-2b4fb1a8fd42 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:75a3e0a0-45b6-4d17-9e1d-4321ddca8ca0 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:b8bf840f-87ac-4f22-b080-a86c7c65deac phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:2386c4ab-994c-475a-a65b-03c2965de665 phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22031302 uuid:1b0d1b81-f6fb-459e-b589-0a70e686e1ca phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22031302 uuid:1f12a13a-7234-4797-9e52-63ac609631ba phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22031302 uuid:971889c2-e91a-4563-a722-345bbc08e404 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:a86cdc42-d5ea-4949-9f60-e80333b2fd0f phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:c67165ac-cadd-4042-b581-397657ffc7c7 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:4bbf7be6-08fb-4118-b7c6-655583aa2649 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:8f51aa87-28d1-4da8-b185-1205df9b69c2 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:6b778e7c-8091-4e38-87ba-787ca0f6eda6 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:d37672db-cc5e-435c-97fb-eb2a4e2c4b34 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:01c17e37-0e72-4753-9623-acfdbbbd1b77 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:6107955a-be3d-4680-a2a6-85257dfd1a8e phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:ae6d0ec1-220c-441a-bafb-4b67ca1fe633 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:f30e5a36-3192-4a49-b53f-effa5da3dda7 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3e150cc1-9ec2-4493-ae12-756c4550b6bd phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:30f0755d-8843-43b3-9101-0e5d06e65b85 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:5cb8d155-0f6a-4017-ade1-d6f8c1aac852 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:0d0e6b1e-3977-4df9-a068-831a46f758be phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7a27f495-2b52-40be-89f5-588f87119935 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:8a45d3a6-b14a-4609-9c6f-3622f67aa00b phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:1f04c7c4-7bab-4c5e-b60a-bfe2b8af91eb phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:630355c4-84c5-4a0e-8d7b-8c3732a6f32b phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:5abbe4e4-68ff-4386-8568-bf7dcb6ef087 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:e59c6517-5f54-4f37-a576-1cb84d6cbe62 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:e2d5146b-94a9-4749-98fb-5cc2b18b50f5 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:5464b013-60e3-4ff0-8e64-62792a2894e2 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:f841b7fa-c7ea-4188-8185-59321292d954 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c5ecbebf-9fdd-4f5d-ac4a-b9e0832876cd phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:368207f8-58f6-4ec9-b587-e604fbc314c3 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:0db613a6-df0d-4b12-b77e-b5a18fc0fc12 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:a241d7fb-bb18-4092-9c87-303221a67e52 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:59720d2a-00c4-4463-9b1d-5ca29a7a34e9 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:d1d43e01-0350-423d-8963-693b95912ccf phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:b75a147d-b184-4fef-87cb-14546b3bd56f phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:a9cb820f-3253-4b1f-be39-856be903d236 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:61b45d81-e327-4904-85f5-52205600c0ea phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:ff7f1f89-3058-4ea5-8ac7-a710cfbf007c phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:33ba8e91-81d9-4d65-8d0f-1e1997586b1d phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:5501e913-9b06-413c-8ae5-e1ad3f45d189 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:10892858-18f6-449c-8519-4b1418d70f59 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:6d8877ad-3c30-4faa-b059-3f2d70f810ec phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2c0a48bb-e8e2-4890-8201-77ab8bb13f20 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:53355d82-df29-4175-9c04-e06554df98a1 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:bc78b4b6-961f-4efa-8f21-f2f0fe723e3b phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:29458afc-add4-40a5-b47e-63ebb2d57b87 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:d62da693-c855-47a0-a0dc-655494f2b5af phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2214bf91-6e55-40ef-9c19-9de5578f4eec phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:996ebadb-ba10-4c25-b6ad-b11851feef18 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:32446c5f-fcb7-48d2-ab72-bdaec87e653b phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2da8c8e6-9ac9-4fcd-85c8-4b61d5055bc3 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:34f9dba0-dabe-4126-9cec-8f39bc11003e phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:840677e1-03ea-417b-9f03-8c11b9646856 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:0b58caa7-218c-40a8-81fc-328d72de871c phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:f6965efb-6eeb-4b6a-8249-058974b2c8bb phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:47673a66-00e2-4c67-b2f3-216629458519 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c98238a8-8a3f-4048-ac24-0c90fd404a8c phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:22e17d8b-8792-4430-9c74-d53fb9a32205 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:12578c19-e83f-42a9-a11c-bea7519d56bc phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:6319ee9c-c36b-436e-9658-b1df3b30820a phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:0ff0cd0d-a63e-4f92-9460-decae1f5a8d9 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:81d7ff51-91e8-4634-b658-2a0609664f37 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c9ec8842-882e-468f-aa21-ab58f62e5a55 phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:75bb1dcc-e3b1-4f0a-b9fc-d2e52f2b480f phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:01fbe638-e3e7-4b4f-80c3-b0de634b1e6c phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:f1e93b2b-71a1-4b78-934c-83f04333fdbc phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:76fe53d1-a47d-4e44-baa0-8b244067cca9 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16571880 uuid:248b3259-3220-4ca1-8beb-ae55e4572925 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16571880 uuid:c3015fd9-8630-4a0c-98f3-43c6cea34cb6 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16571880 uuid:f27d0165-6d55-4085-ad1e-30ee807ae897 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16571880 uuid:5c224e5e-5f8f-4901-86e9-06ae284151af phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16571880 uuid:3a6cb160-25d0-44e7-a356-b09894b27c77 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16571880 uuid:8bfbbd5c-fc2d-4232-b375-256dcc20e29c phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:6dc801bd-5f00-429f-a81f-4a1dc7f56197 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:aa185fa1-bdd6-4efe-8f34-727c3926b7d2 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:c4a8818a-ff13-45f2-a7ac-4e5ebe6b09f0 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:0dbd4881-c3b5-4ba0-86b3-749865581367 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:8437d581-6da0-41fd-b217-9ab544d56e80 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:6f621823-6a17-45e6-8e14-381ce43ab703 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:b489c5ed-f7d2-452c-9854-9951bbc56ecb phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:a87cd412-02c2-4397-b401-0a7dc1fd6237 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:0c0ffa2e-5ef1-42ea-9f16-b18dbeb453ed phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:48cf65c2-a0a1-446f-9dbb-9685bb9386ee phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:fc34f69b-3c51-4f23-8578-3b90b532cd68 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:b97d2b67-18ce-4b72-97fe-59e0e24c046b phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:40407a75-6c14-4bfb-9931-b22a729747a6 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:848380ca-4e49-4473-ada3-a433e25fb02d phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:6f6500e2-3e75-45b3-800b-09798054d31a phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:7677ced8-aa82-4483-bd44-392e09cdf892 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:69ed35ae-a07c-433e-abfd-1638e8de51e1 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:8adc92d6-7781-416b-973e-d7f87a1c3963 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:f8049660-f906-4df1-984e-da3b6beba04e phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:2d5cd36f-d8f8-4457-b006-bab06fb2d8b3 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:639af391-c10c-45cc-8fa1-ee2908e28972 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:af2986f7-ac0d-4931-b6d8-9b2e82355f01 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:7638a3dd-868f-4799-b04a-d05db2dfb20e phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:f49981ad-b332-4b57-9ae9-e4095ddd3fdc phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:0afbf3fe-7c67-4171-9169-221f9910c432 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:6fc6037b-f596-491f-bc06-648d22abd155 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:0539eb5a-1f03-4326-9ab6-8ac7d3679004 phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:9061bf94-fcba-4546-a13d-8421040c296a phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16571880 uuid:015697c2-aece-409d-9926-29f547f37b8a phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16571880 uuid:ca5f930a-d929-49c2-aa12-38e5acf93d9d phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16571880 uuid:56fc0c54-9a2f-43bc-9137-ed2a5040c9c5 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:72cc10f7-a074-4cfa-9d71-5681df11723f phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:2d6de4c9-1717-40ba-ad43-e892e7b395fe phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:029e3f14-37b6-435d-a480-2d7e35272cd4 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:84f98794-fede-43e7-8deb-cac87b771e41 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:7cfe466e-fb0d-4831-9ccd-00eb800c4117 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:935c7e28-1cae-461e-8eb9-4f966e0e6511 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:ddc50d43-9268-4405-bbb9-0f7dffc8c574 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:4bcdbf78-469c-4097-8840-4e1abab9ba62 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:ac9eca16-e815-4fec-9feb-1880f1d55774 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:f4a19dfb-cf72-41dd-9bb1-be03ea0433d9 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1c533105-f71a-49e8-8854-0fc920b14fb1 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:42e8854d-d0e1-44a7-a58f-7819ef657c7b phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d16407f1-e3f6-4f7d-99d1-cc2a46214cd9 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1d6d6c61-86ec-45ee-b55e-0b97085bb54a phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:10a7e683-0052-4e26-8652-61d54a2f99a2 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:de54b53d-8e48-432f-b13b-57e49c7334be phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:b047c1dc-6bbb-47a5-adf4-242e1d7b0e32 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:6f058671-e65a-4211-a2fb-32b295891cf8 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:e27c38ba-a2e7-470a-860b-8d032b6fd3eb phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1d3c9ca5-3691-4053-aaed-3546defed430 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d96b9cbd-09c0-4c74-9433-1562b062af50 phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:27439707 uuid:8cb9613b-e030-42a2-a2c5-5d2cd8bddece phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:4f46fb3e-8afc-4638-af29-4876bb7381d6 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:41d2d1cb-e84e-4626-a74c-d31dc3fce512 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4eea6cf5-b938-4a45-98a9-2b21ff42a824 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:54f97321-de6e-4f09-acf9-eb83f051e4a4 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:1a136822-d8b0-45ee-bac1-e75c276c3bde phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:023d8b24-1450-44f4-9be1-22705ad31206 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:53bfcb62-67d3-4129-8763-741056c25e97 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:3cc558e9-4689-45a3-81e9-2422ec9f6e78 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:620fb392-95d8-4452-a8fa-218937d32084 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:57224671-52d0-44fd-a6d1-94a6decc5d8d phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:867c3b4e-0290-48d4-a28f-4b5af1a9e9cb phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bdaa694a-20d2-4e6f-a1d0-e679597aa60e phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cda2781b-d96b-4d96-aedc-cc5e5a18f19c phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:acbf5cbf-9994-49a6-bc4d-09ff6a0ed238 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:06bc1f4e-489e-48fd-a223-03ffb57a2cf9 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c22b59ef-c665-44a0-aa2c-c052e7517664 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2d019617-ad40-466d-b1d1-c346593c27f0 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b84c8402-27eb-4637-a502-faa3a621176c phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:23d94784-ba42-4924-b716-e5afc286b075 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:eacb578e-b4e5-4242-a9cd-4aff117aefab phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e6deb4ee-d91c-434e-8281-9baba8d75b0b phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dfa3afbd-f820-44a1-9c36-6ff2e255c0a5 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:62715600-7a93-4917-8297-edbbd1c2f5e5 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:370ed8bb-17cd-46da-b571-ef630c784bac phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:58307f4b-8b6d-4f1b-bf0d-5df99deaf6f1 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7e68c40f-96a0-4726-b300-e2966afbaa70 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:32e28a1d-6846-4ab1-af2d-1f29d81e0098 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d033c39c-dc64-4292-b3f7-f787da1379c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2f9b09fc-a80c-4d9b-9583-efeb42c0a122 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:443a8aaf-d867-494b-894e-f3ea59fe401b phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7db8bfb4-fb06-4e5e-b09c-e580403d2adb phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:21b06d8f-02ad-4f48-aea8-9e47b0ed1384 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cab677bd-fd27-41ab-8705-829eb89fbf3e phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d224b780-0350-4f5e-9f67-aab3289e8155 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4265ac42-7bc0-4ee5-8b0a-904963116e3d phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1864c9ea-9205-4d26-adf5-6b0c6d0a014a phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:de45b555-bb8b-4def-8955-6352d4950232 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:54ebdb2c-7293-49fc-8ff5-4cc5e4840607 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:276d7a16-b256-4edf-ae13-588bc0c1b755 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:afde5e6f-cb29-4c3b-b717-43d1657ee720 phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:37183190 uuid:c8a8413d-131e-44d9-8e2a-af178f10bedf phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:f4087908-d773-427c-8780-86ed82c6fbf5 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:0dc52894-24aa-4e5d-88cf-8f87a17cba20 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:4341f7ef-7766-472d-8b28-2f33e5d0deec phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:22fe3af0-fb67-4217-aa51-0d9d810d762d phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:08b49b89-05f5-40fb-abe8-142554602e3b phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:a166904c-cc65-4e95-b613-c5953fe98d48 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:5bfaa636-206d-474e-9ef8-0f88f96a1810 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:0c2ef01d-5e9c-4b95-95c6-900077903bd0 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:8c77f2dc-1040-4f7e-9ecc-fa716d0d8ea3 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7932768a-2ebe-469f-ab66-0dd525b8ae09 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:71a9f080-fb58-4cd5-b1c1-10bd7bbaf31a phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:38f1bdf8-f9b2-4797-b52c-c49ab3025a38 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:118511cc-b0e6-4f65-8ef2-a9f185faa48c phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7471a740-1668-4c53-a3d3-c16bba6a6319 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:2bdeedcb-6627-4e46-8e0a-67637af715e6 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:6e422252-bdf7-4395-9057-fd981f5911a7 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:01ac8751-d908-4969-aa5c-321f42e41709 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:81757c09-f82b-4dde-a249-779a7fcb4cfa phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:1396dc1f-0755-45b2-be7d-3cb805ddcbc1 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:db7c2ff3-d8fe-40bd-9d11-b4dafacb6c8d phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:cceafbc4-db9a-4843-bedc-ff928d5d11a3 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:87495e36-e30b-4494-8a0f-64607a7797ab phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7649beaf-7963-4b2f-9f9d-3158c411f282 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:5d5d647b-f4fe-4fc2-8c4a-c02b974dd873 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:612fbb4f-1af2-49e9-8680-d9d910376e7b phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:5ad9da6c-eb78-4408-8f28-23c61cd465a9 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:4ebce876-343a-4e0d-bfe7-d0b0ec683af8 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:81e19d67-e315-4a50-b7a0-5e3cd3a01eb5 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:5edbc817-2f6f-4f6a-996e-63cdbbff6d80 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:3c4c532b-2d6c-4a63-bcd0-567a74c3a303 phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:4449e19d-edeb-45eb-a875-ac6adc023652 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:33042910 uuid:a007d220-2a51-4919-a404-7e9d6cb796d2 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:39ebbc44-246e-450f-bd2c-d60cd8a43ce3 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:2fee5821-7855-4ee2-90e4-ef2b6bddf67c phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:daad2f4c-fe44-454b-b62e-13a92dc4f369 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:12b21960-5caa-4243-8bac-dd3f06337d40 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:a7fb9314-0673-4b60-b67b-c677bfedad3b phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:3ea491c5-7112-4ab5-b852-592f4b428ae3 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:0d06b96f-5805-4ee1-aeef-711525588d08 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:0a250846-69a3-4515-8e74-047764f139ae phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:bdc42136-236b-42d6-997a-cc354eb3ca92 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:5b884125-88ff-446d-912b-f8937fb498d3 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33042910 uuid:cb59486e-e119-488e-9072-47a8c07052fd phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:204632cb-7cd8-42f6-8905-d93619e8b519 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:2330c71b-8867-4912-a9a1-aa02993149ba phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:9fc9aa41-e2a9-481a-850f-68ff617b6b23 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:753a6651-986a-4c31-9983-f6efb31e9c67 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:f55ef995-25e1-4e69-90f3-60e9023ecd66 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:3c3154aa-a8d9-4edb-b0ed-dfcc8bfab4b6 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:c4c8c737-f506-4723-9462-55a742f45a91 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:2c34f660-0f34-4538-8136-bfa5d9731505 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:c0f4cf2f-b808-4fc6-867b-9fea812f4565 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:a35bdb5e-2cea-4489-a732-ab8555911270 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:8cdf2705-c7d5-4f3f-907d-5e213eea0b5a phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:a693efa1-0628-4048-9e6c-644f503aebbb phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:4b1bd1ad-d516-4ab0-b874-1f33bab8bbc3 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:9116bcc1-2199-4726-8e09-de46fa82c6e0 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:9304f071-c740-46ec-9d78-a35bba127ed7 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:48b9e7b6-4452-41bc-8e87-1d3994d02e94 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:e161ad3d-14ff-4a1b-bb41-d426cf96c79d phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:b837fe6e-90ac-4a0e-87d2-8d989c3b47cf phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33042910 uuid:003ded96-4719-4e90-9b8e-caa7502a9d31 phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33042910 uuid:da139a35-e856-4189-8215-379a524b459d phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33042910 uuid:964563d0-9f94-40c3-8a21-3f53f6169898 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7e8d98a6-45b1-4aa5-ba30-837767aceef0 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4e40f036-865c-4e4b-ad5d-39a5f6f44ccc phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:ccf3d1e8-2d14-4c55-bbaf-2bb319569349 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:a5eb7bfe-584e-4df1-a64c-5272044c454d phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:568535d3-a358-4e5a-b849-c9375c2274e6 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5dcaa1d0-c95e-489e-87b8-86a3f4ad16b4 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ce9a6ef2-744a-4bda-a763-c37751446151 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c32f7a29-ae53-4159-9ea5-2b9e188d73a9 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5517fc28-429f-49e5-a116-c5b96d15abd6 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:38656804-7879-4f46-bd91-682cc1fde2d1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0d70e472-09db-4312-919b-b9e1cebb47a4 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:216f83a2-d467-460a-a501-2b0e04a47f9d phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:db010c7a-ba6a-49a7-8819-6e2f7f97afdb phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0a6b9446-43cc-4dd0-a919-badc4f31d05a phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:30e538d9-bf3e-4263-aa45-34d6c3cf797f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0febc0d3-be51-43ab-8bf0-06f2f3018603 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6bb3413d-1d26-47c8-a017-b4c4703a0c8e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c3e99cf0-c199-4826-989b-165ecd2af62c phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b870e263-7eca-4971-8234-f3fb7532abbb phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d0c36495-7665-4f2a-8e15-e78dd79c8cbf phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:290f9e17-f655-4499-abe2-664cacd82819 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fbfc6251-49c9-43d2-bf71-fcf2f4cb59f9 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ab475f3c-d54a-4d5d-9d6a-d2d7af014ae6 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a8d61d0a-c140-4334-af24-796ae6347b6f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d42f8c32-4a88-4e44-92ee-fce5cbf938a2 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bea6efaf-2076-450a-a2d8-360bf700d6b8 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0ac960db-a054-4649-a088-23c1abdb03ad phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7da31689-93c2-4a65-9f31-623e9c194bd1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1243cb0d-3023-4281-8337-f5b16de1f1cb phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b3df59cd-1ed0-46b1-ba85-3d085351357e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:024d7fee-163b-425f-b360-c12993bae44c phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0c94a208-8b4e-4aa4-9938-898118989a24 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:66dcccbe-81b4-45af-9379-8f247d2a5a8e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:72045f22-5242-487f-9557-dfead3fdf66f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9f98412d-819a-42f4-99da-3fac5fff66c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:443a2121-266d-4a25-bbc8-bfa9c1e9a4cb phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fbc0cc79-cc41-436a-9c73-c79d707e842f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2a5e062b-08c8-4d5f-b13e-43c5aa1249cf phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0afef12d-513c-4ba4-bfb1-48c0925edf02 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P20M infores:phenopacket-store PMID:37183190 uuid:47a19283-8e29-4257-85da-0d5355579a9f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:a35132f0-ca84-406d-96a2-14544dcadbb7 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:bcacd8fa-d90f-4cf4-9732-38451f097e24 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5c341fb7-a6ec-46e9-a4d5-4264ba654bba phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:a8126e09-3327-405b-b41b-25d404f413a9 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5e264d81-66ef-4211-ae97-c08cff5ff411 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:6d10e22e-abd7-4ed5-ac74-f27cac8f039f phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:c47b9e47-9bd3-4246-a0ba-a6759648b5f8 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:44b9ac52-bd81-46e0-bde1-bfac09cd41a9 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:26dde6b9-7546-4db8-ae40-e1b650126967 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7ede5b7e-c025-449f-8e35-b2219aa9af8b phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:24fbfd39-a045-40bf-8529-71f2678982a8 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2721f32e-79d1-45d9-a80c-eca7b13fc7b5 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ba5fe8ec-2a78-4956-8cb0-e6c5ea2871e7 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a2580f11-7ac1-4a3e-896d-fbea621f70fc phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d3aded3a-b999-4b66-af51-b2b87453f2b2 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:141af5a9-787e-4690-a3d0-cbccf80a4026 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:05c00a20-6247-4340-9612-b87eaaa52927 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:46457815-97b9-490c-9595-f0efaf9ffbe2 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:69fc3b91-0781-4031-abb0-ecf58bb5da92 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:550e1b33-23fa-440c-9d22-19bd8e3314f7 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:31ca9f01-3a1e-4e2e-b45f-5a8842c1a84e phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1f4fa648-6aa6-4083-9e97-10be63cbb380 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d2000348-8a6b-4492-adf2-0d78a27ed63a phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fd1c6367-935b-4813-ae9f-569c262bd273 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:42af7112-a787-4743-a89b-235b439c3da9 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:feb5c72d-a92c-41e3-90f3-d28517bccb93 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0cf43184-d2a2-47b9-9055-49b7dec56156 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c689c3cf-73e8-48d2-86f7-acdcf080b1b0 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:700dac79-7dad-4ee5-b900-c79000749eae phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2eb1fa45-bde1-4d80-a3e5-ea599469d5fc phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b45c6b75-865a-4c08-bcc7-40d18616dc54 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8499bc61-cee5-4fa4-ace5-44f6b7ee72c9 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ac72c505-ee3e-42c6-85ba-c6d75e46fac8 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3b197cdb-1b67-4a0d-94a6-df49ca39f4ac phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dcd0498e-b3ea-4dfb-9a9b-d28d12deafab phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c4bdb918-824b-41b8-8c97-a2825a71e4fd phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7cebc07f-0e30-4171-8a52-b85598f6119f phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P4Y6M infores:phenopacket-store PMID:37183190 uuid:500f3a26-9884-44cd-ac2d-0c879a59bc03 phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:7b5c1820-9cb1-4a59-a833-cd44cfde9749 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:6064a6a9-eb2a-43ea-90f7-653e36bd8612 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:e1256500-d1b2-40bc-8dd3-a01620481eaf phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:960a0056-3d00-4198-bcd8-dc7a27613ccf phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:9cbc8d97-4220-4ae1-a147-8c511b69fbb0 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:6386ea35-2c9b-438d-967e-2e53fcd62d8c phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:2fa68265-7cbd-462d-bb8f-a521f6c4fa96 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:8633d14a-6774-4eda-ba01-b602f2e95551 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:96644e46-c867-4d47-9bd8-2a4b4d94e678 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:1f484bd6-a8aa-4ae4-8baa-f668e43a648c phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:f32a269c-fb18-48cf-a523-6578e0bc70d3 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4c643994-3477-4fa1-864e-e096979af81c phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c4d5712b-3f24-49d7-b95b-c8c5a4bb3469 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:237643fe-2c6a-41cb-bf8f-2adc60145d98 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:3d5b647a-67b2-4d8a-99bd-164643844693 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:b5297fb5-a89e-4749-bab9-394035ebca9f phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1e9683b2-fecf-4969-89dd-25a6e99701de phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4c1d2c9e-fb89-4842-bce2-741292054530 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:369a6d55-44b8-4520-9aa2-ac61ba90d0f1 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:297ba1de-0702-4f36-bb03-7f2c243f164e phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:5af06629-d817-4e43-bd73-9181fe6d0d9b phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:e14d0083-8512-4c96-8fa7-861f78108129 phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y5M infores:phenopacket-store PMID:27439707 uuid:393b7fdb-42d0-4b70-bed0-76110e65a71c phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:e2b1f507-e4e4-411b-ba0b-fd2c880f0b08 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:33895390 uuid:eeb4f895-036f-45b5-a4ee-f95ccdaac113 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:0be90297-1d52-45ff-a7b8-2b71e78d81ec phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:f7cdcbc6-06a1-4d3c-8c09-bc353da29736 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:05ec8819-fdfb-455c-bdad-eb9bb251f407 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:54408249-2861-4614-a32e-da1cf712df34 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:51877865-ab0f-4756-8df8-d106f92aed95 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:1bb3bdcf-33d9-4309-bba5-061612aa4d07 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:c3395ec7-cf3f-4295-8b56-519e010fde3f phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33895390 uuid:e4435803-cfc5-4bd1-a7bd-b2d1e0e0bd75 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:978dff72-e47c-426e-bec8-c11f36be453d phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:98ebe980-021d-4dc5-9201-5f9c6be8a06e phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:5156e681-0a46-42d7-bbb5-00590b32e666 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:785bbf60-aa6f-4efa-8b53-b1cba300c683 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:6e78e538-38e6-463f-823b-edcbb4aa9e6a phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:91a4f6ff-f4c8-45ef-99ec-083d42d286d9 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:81f4323b-92ab-4321-95c7-ce828c112524 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:e5efbae7-16dd-4a9c-9e22-a33284672c57 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:1b8c8734-6fd4-42ba-9e1a-4b885ace4d95 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33895390 uuid:2bc1093a-5b0c-44d5-aeda-0da5498cd937 phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y8M infores:phenopacket-store PMID:33895390 uuid:ffe28941-823e-48a0-b5f3-9d174cef2e4f phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33895390 uuid:89f69b0e-3e92-4e21-8f48-b2c8ac0bb5c3 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:e6956ab9-eb8f-48da-9b1a-ccb236a2db15 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:5d5bb9bc-0f8b-404b-8461-c55c15277723 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:f05a0026-fa75-434e-a429-5ba2a64395f4 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:b26d0c67-216e-40fd-be88-9d5cab5197fc phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:9a5b2831-08d0-457e-9328-a0332cc75721 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:b277f2dd-0b3f-4611-9517-5cf680fc2e8a phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:cfbb2b8b-fb86-42ee-852b-7d576584849c phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7f3ad2a3-4719-4a3f-9ce9-82de9795e588 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:33839d0d-880e-43ec-be8f-d3c53a5c78ab phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:3b98b236-e703-4e73-a577-a152545cca8d phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:277a002e-c784-4e4b-9149-ea554f70a9aa phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f9b93b6c-3d72-455c-9f7c-b54bcf51794b phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:b77449b9-bd89-453e-bf8a-53a8693dad50 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7c555813-dce1-40b9-8a0d-0d73446c7190 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:51b8ba36-35e4-49aa-8a39-ddda38ae8d39 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:1f8c4dcd-93d1-4273-8633-0e452b93d0ba phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:187bcbdb-5453-48e1-be51-9049fdc50b73 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:50fe5132-6a3d-451c-936f-88cd21133a5a phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f80c72ea-a243-45ae-81e4-41e5d6b0c6f9 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f48972dc-00d0-4fdc-830e-a3528b7d0bf0 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:c2a731f2-5efb-49ce-8e1a-44aa8cc538c3 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f2b7b85f-7889-49e1-9696-fdc090ab9936 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:b036f0b3-b472-4205-bc8e-a8aed12bc626 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f57ffbb0-d06e-4d6a-8456-6957c517c3a4 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:d95767a3-8b1c-4571-b187-5b7c2e7154b7 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:ab194a62-7bb8-42fb-8f21-43b6cefb3ff9 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:3fb0111a-3bd5-4b71-977d-dc318fbaa286 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:ef86d818-1ae3-42f4-bb9f-a8255d9da0aa phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:54233e5b-e738-4303-907b-d2b0a112cce7 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f4a68827-c7f8-416c-94de-e2cc9f2e5f38 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:638ae039-ac31-4468-b320-201c128fe0c6 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:a95dee27-368c-4fd8-abe2-b591e3921734 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:2a48a669-16f7-4c24-a061-72ae614ebbba phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:e0bce1db-93d5-43bb-a468-d17acb538360 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9d06962b-428a-4e99-9504-fd783a4074a8 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:6c9f9b19-9218-4256-af6e-926a7c099ae3 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9276f19e-1e85-4a0b-8d0d-45848b13ac75 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:19896112 uuid:6b6a134c-cacf-4863-8656-fa8ec6dc3708 phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19896112 uuid:d9032ce5-0587-44f8-9911-ead051d126c7 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:8a4088b1-b324-4715-b182-3955a4ecce1b phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:c33fe41e-bec4-45ce-aa71-e05e7f07a0df phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:dea3cabb-b08c-4fd0-97bb-e4b4799acbcf phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:bc92d5d2-9da7-4660-887e-19e4d709aeb6 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:dee300b3-1b54-419a-9722-b3eb05c8b2f4 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:f823253f-3edc-401e-8b3e-c1820e2848e4 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:71de5843-a23f-4dc8-b528-0f41a6ae3b57 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:117ded2f-b0cd-486e-84d5-9fa746ea7cf0 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:9727d21b-2029-4b75-93a8-8a0e140e94bc phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:cfbed5f5-faa9-4718-a08f-a3a19300c83a phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:4b050d22-0c3d-4730-a9f3-0e08301505f1 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:fe559741-36d5-4520-8c9c-0940a2b8d6d8 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:dba03c14-673c-4a8c-ae84-f800687120ad phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:f65f49dc-eea9-4ece-bd25-ef31ff8dd640 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:9c9b3ba1-b450-427b-a679-04f3b17ac1c8 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:820aa89c-d718-4b0f-9273-b51986cd1ef9 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:17e47584-8594-4066-8741-f385d7fef7dd phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:87874665-1bd9-47d7-80e7-da70cadcc673 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c224e09b-d40f-47bb-85c6-0baf28c4957a phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:b07f2c74-b655-4f31-95b2-0797577b4a96 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:dcf3bcbd-4775-46e2-9a5c-e55e19230a08 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:8949945c-a3f6-466a-9eaa-7b03166e431d phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:df09554c-b245-463f-8f02-1e40c805f2e2 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:fa8b7325-8dee-4a4b-a3ff-d27bd8a612d1 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:887dc247-7a07-4ba2-a15f-0a789d2b4fe9 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:4d05e7cf-6e3f-46b5-9bcd-a4f5cf4d8333 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:1f9a5720-03e3-4ea7-8a1b-b3b9566bb483 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:ad8bbcbb-3649-42d1-84ef-80b9df8992e3 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:74a3dfc4-de3a-4f5d-bb5f-1a951f781a46 phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:815d5004-c60f-4f57-95e5-d84ae559ec5e phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:c763df90-098b-4dd9-a900-b60e94ca4249 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:3d81a4d2-ba85-47c8-93e4-132eb0a4e701 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:fa283476-5939-48c8-8c34-97fda6820b97 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:21477f4e-cab0-4788-baba-74da20f096d9 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:416fafa1-62a9-42a0-9823-81c04ef5d469 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:4ce9f29b-34a8-47fc-b05f-a1d2c82984d9 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:5ba88cda-9ca2-4076-8ef2-ed435d9346ae phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:cb53c076-7dbd-47ec-8770-7aeef134ba2f phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:8a16e899-f6a2-4eb7-bb89-5efd6282e471 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:224659ae-9e6e-441d-83d4-6d5d4b771100 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:ed65e59f-e0ba-411d-8552-4d353bd37fa1 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d6170dfd-da07-4110-ab66-1365eed0eb53 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:aa155733-8eec-4141-ac24-df9dfebf91ac phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:fee0fc39-e259-49a7-88c2-f663c50f47b6 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:6a91718d-b8bd-46d8-9147-2f0c9058f853 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4f0339be-0e39-4c36-aadb-c7220c4458a4 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:174fa237-62d1-480d-a4b6-fbb277e1233c phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:dcb6e7d4-381a-4f86-8ef7-4cb664da3874 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:90b33c9d-cf53-41f9-a33d-ad75bb20c2c2 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:18345c86-7f20-42dd-bd40-9f2f86991e40 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:f905943f-87a6-4a63-b1fe-bdd8428e62ed phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:ad07e841-a89b-46bd-a11c-8bad6b99d62a phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:38467e8e-6638-46b6-a89e-09bd4e8b5462 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1d621216-ff7b-4b17-b556-4f791ff8895c phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:9e8c8eb8-9526-4394-a8d1-2b149d57b4fe phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d02f24d6-613c-41d8-bf38-401f28ec140d phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:12718000-b499-4537-81e3-aa10a7779a97 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:27439707 uuid:f6db0a2b-2039-45b1-82db-ace7a1c831f3 phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:1a2c5dcc-58a7-4401-87d2-e3443f774ac5 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:f5a2aaca-0e93-4001-9527-571b47081680 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:724daee3-4baf-486b-9f19-65a4a37102a3 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:aefa9e48-880d-426a-ba56-625257846b77 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:060fae3b-4426-48a1-9c88-fb1e7e9c3af5 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:02375cb6-b64e-4062-8ea8-de1af96b1557 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:d60df487-b580-4402-9b42-9c52779cb62e phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:08b4ebd8-22d6-4b89-aaf2-b536b429fbdb phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:d747a849-c2a7-4242-a056-9fd69c9c8d28 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:2e53dd95-6bc1-4bcf-877f-db524a158af6 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:0846bdb5-fe9a-4e4d-a5c3-272735a7d47f phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:9d33912f-9814-4ab2-9b5d-22fe63290873 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:079cec37-2680-4953-93ca-081974ae1121 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:afa70aa7-60c4-41b3-9e50-40d6749b6a80 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:d205ca62-0b80-4655-80df-ae8b8cfed501 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:0013f8d6-fa90-4fe4-a774-b4d8e5320150 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:ec1d5427-8766-4c11-83c8-3b4a1afb8337 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:aab6dc59-0ae3-4180-93d1-389724b744b9 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:2b488b88-fda2-4490-92e5-f1a9cef93d55 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:572566af-682c-40e1-9aed-b294b002c0a3 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:1bab5c26-2d4b-49ce-b197-9890eaa28346 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c29a799f-686d-438b-a9ba-bae10acdf860 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:31a83638-c846-450d-980e-2b70339fe8d7 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c27e6c99-bd75-4b71-858e-cc645c475396 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3433375d-0215-4986-9a01-9243ad4be6ba phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:77f9aee7-fc4d-4422-b58e-c31a69638638 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:9ab2d7f4-bf26-47da-ad41-2c38748fabee phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c9d16f65-53bd-4e2f-bf99-9986a07bb791 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:331019b2-6d9f-47c6-a99e-92a6bbcb265b phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3c22952e-2242-4028-9f93-2064f6f7b7a8 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:dcbbf1c1-6a37-4e1a-9ce2-ed293d6907cb phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:0e5f3134-a7fc-40a4-9d59-e834ba493719 phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:ec2eb1c8-70ed-4d84-9633-bfa347e998e4 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:6be4903e-2808-4371-a0ef-c8aad9a81ccd phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:fd37dacb-a30c-4c52-8d22-cae1c255138d phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:1396c118-bc64-41a4-8eb6-d904bcbdd6cd phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:e950493f-283a-41c1-af38-805c0f000a67 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:a0339a09-2669-440f-9b7c-8f7a97f04024 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:99a4a24d-ae3b-4099-b0ac-00d780dc4e1e phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:d4ff7586-4b3b-4cdd-9770-0ffe2922a971 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:40e490e6-4386-412b-9745-0c6afb3f43d6 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f7302374-2bd9-4725-bb2c-9b3636a14175 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:89e46608-21d4-4ac7-8960-d63c44e93968 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:13aeea24-5e1f-410b-82e0-520f5fa58071 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1a9ee3d3-094d-4f7d-a52c-d62dde760fa6 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c1cbfb35-b9c5-4d39-a724-94157516b4de phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:24c3dc81-3229-49e8-973f-3db0e7497be5 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4655db21-3228-4661-8101-60dd4ba007a2 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8391603b-021e-48a8-af16-f15c49ec2faf phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:173d6ba9-4467-424d-bfeb-eadb9eac3f58 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2590bac6-5652-434a-8ac5-0118302aea1b phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ca781007-cb17-42ea-8702-8c4e7cf408b4 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c2c64470-f9af-4d16-b2ff-a195bec32369 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c97d8106-bc01-4a8e-8afe-3134a8763a2d phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9886cd9a-612d-4983-87f6-477934d6f7ef phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:65b1cd33-4adb-4eb3-9fdf-f568945a5603 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:795d6644-8f20-4697-8c10-215f54fff1eb phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c2904cc7-26fe-4e55-b76a-da881256b129 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c4b36b89-cfd7-4389-91fd-0e40a13ad8ce phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:57b47a80-cf30-4cf7-976b-122f9cb7dc95 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8f745356-e4f3-49de-861a-d5ac800ffbdb phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dc5a7805-263b-41e4-9cea-a32af2c49366 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:040b3074-0553-45f9-96cf-04cb41132e0a phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9a34e76b-e47a-4220-950a-952b805cba58 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:59157ae2-060e-4494-95c0-d714c1b79693 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ad812031-1c29-4313-803f-6ce70b9ae062 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:494a1ca3-89da-44ad-9399-3af3f8f97da7 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3c94cd3b-8b90-4906-916b-f0a831db63d4 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6103b779-0bfd-41b1-ad66-717acc7baeb7 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3177f1aa-18c8-438e-a624-54bc39ca1314 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:35f019c8-1db0-4b03-a000-78df4f9cbec5 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bd730030-3e8a-47df-a8aa-0f24bd028d01 phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:14f10599-cb24-495e-854d-79499f59e42c phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y7M infores:phenopacket-store PMID:37183190 uuid:f085c9b7-7354-485b-818a-1650a2d7c25e phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:3a96c868-164b-477f-b2d9-4a5e2d2939d9 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5586fd50-858c-4860-a7dc-8ff6d0f0f8bd phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:14453b25-2c8a-4a48-b860-44b0e0ef2b3d phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:122b28fb-a0b8-4f3a-b263-1c784fbe4a7c phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:c3755386-6c54-4e6c-8963-984039c17b7f phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:9f270c1a-f296-4a34-b02f-632597d58728 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:a14a9846-4a7b-4d25-be64-8a0baaa1c792 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:307542d1-9520-4401-a503-e6dcf38afb4b phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:53324634-a400-421c-8deb-ade75b0a2af1 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:93ee8a14-182d-45e3-9280-2031a63026c7 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:286d68d2-3337-406c-bc61-e3d7799ca34c phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:82873488-ae9c-403f-b15c-5cc99074e85a phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4f424d51-a4ef-4d04-89d4-9a1031a940f1 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6d631fa8-717b-4b09-af82-85286f35dfe4 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fcd5f41a-5380-4338-9097-5df0e7b31f76 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a4ef0067-a3e0-49e4-b625-2b6cdc105fb2 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b39cb7f7-a5a8-4a60-9919-23103d1fdd72 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9dd17a8f-5d4f-4a49-871a-fa24b6bb09e0 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:aeddd29d-bfea-4514-9452-f970be9377d5 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:34e15753-3015-4f5c-b011-8f628da22202 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2b820176-5c52-48b1-b8f9-368877144373 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7e917447-4565-4106-8f94-069ea28f2345 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:32161e15-d00a-422a-b881-15a970c65bbb phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6f26a022-7126-469f-b20e-24c8f7b3d931 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0f371087-1888-45a6-b1a9-a8f0c5fb1588 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:176124ee-24b5-4c8f-bf8e-770683fbdff5 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8e7c9c56-d723-4995-82ca-891a8031b102 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4d92741a-5bbb-4ee2-a8b5-55369fd5f15e phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:eb45567f-3463-4833-a17d-50febe58db31 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d82676de-2478-4cbf-8f06-6d7501f196a8 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e8c437b1-36f5-4979-a624-2b0ffc5d9f1f phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a3b0e6bd-a56d-4142-bdce-6ab346203a05 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:50bca4b9-c064-494c-9db1-fc2c19edd10a phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9a921b10-cdd5-4740-9559-f77e58656231 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fd571aa1-f007-40de-b262-f212551607e0 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:96e63730-031e-4b5d-b390-2e9e12639a89 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e44ca53e-90d8-410d-ac5d-6207295b65da phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5e9b785f-bfb7-488b-bfdb-44f1ef443d0a phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f19b6c44-3978-4437-ba26-d45992fbeb7a phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d6c8ba45-05a3-4607-99e4-bbe13c8fb423 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:97ca083d-f69b-422e-832d-b16c46a60ee0 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1557ddc8-db5a-49f5-a911-5155069750e8 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y11M infores:phenopacket-store PMID:37183190 uuid:23243937-9c33-4c81-8426-e18b01678d06 phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:41a8ae99-c2b4-45b8-96b5-dc14d5ff8d85 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:d01b84d6-7801-4ef8-b162-7c9260742523 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:442ed4cc-100a-4d02-9bfb-a7523efad8aa phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:c9e6ea9f-28cc-4cc3-b048-d8d4c67d8638 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:b9b50709-a235-4c99-8b32-910f194391b4 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:e6e7fb0c-12dd-4eca-b7e2-b141bdf92683 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:77e93e29-cabf-4b67-ba9e-9a521f9d204d phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:2d83523f-86d8-4378-8438-eafd9c73b07a phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:cac2b582-550d-4477-946f-ab3b2309fadc phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4c654c9c-a6f8-46a7-b97a-916aa41f2997 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:562f5bd9-65f7-45aa-b0c7-28576ca7e977 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:88f5be23-07fb-41dc-8f3f-5ca20966c287 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:135b045a-15de-4780-9297-40de643d24d2 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:69498189-4755-448e-8a77-aedf53f4b4c9 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6464fe5a-80d4-4034-9ed5-278d9c14e854 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f214c7d5-d0c2-4b86-9c04-8a339438d0e3 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:998bbf6a-fd94-4537-ada2-af7e95095178 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:999bc22c-1823-45a9-a969-ddf2fe849a4f phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:22dcb2c0-6a4f-42f5-9d8e-1be4567365ef phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3eb5d45c-68fb-4c7f-9cb2-2bf640a26c55 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:314ea3c4-0914-4463-8033-b7813cf87f96 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:beabc4f6-f176-4bd4-a088-3ccb776e6a35 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:18a7ed3f-9cad-4c41-8848-a580735b22be phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:361614fb-d23a-4dce-a55f-aa236e066423 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:55aac830-3fcc-4874-8551-2e9eeac0fc80 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:90ca482a-1b06-4967-ad04-58b6916ea564 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:360c95b2-8667-4ba5-8efc-1d21c170c2be phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b2d36417-27ef-4d77-9eb4-1a6958607b87 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c60b20c4-dc88-427b-94f9-e7b569dd3435 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:75e217b0-0005-496c-bd8f-d2f6a2e0e4e1 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:674fbb39-aff1-483b-8677-4e808e210511 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a8e2b48a-af14-424f-9cb1-153178bc0335 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2fbd3d9a-f4a9-408c-b36c-4c3b3b9e0d77 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6b2ce523-3045-4004-8118-6dd07cb3f79a phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0d1f943b-4fb1-4ad6-82d7-13f498991c41 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b37180e8-0ca5-4490-a1e4-33a755b7d74e phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f5afef78-c663-4f45-b700-4fe8953d8a9a phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5f7948a1-7412-49f6-b0ea-540169547ddf phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:23d47289-4617-4ce8-96b1-80f4f4366706 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a333641b-e574-49db-9987-4098583d6201 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3fd3859a-a004-4f71-b8b4-300de71b670c phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:320d8c3a-6b1f-42b2-9d9e-af21ce96af2c phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a0dafa53-4423-426f-a9e2-c40d4a173340 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8a8081aa-217d-431a-8b41-a6cf20e11a25 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y9M infores:phenopacket-store PMID:37183190 uuid:70bf25c4-737c-4e9c-a53f-8b9166451a1b phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:1d34b930-51aa-4b6c-b978-5967fbbafb68 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:2dc7490c-c05e-4bae-b2e3-eef16d28e697 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:f7c1446c-167e-49f4-b2e7-2a22a8b8debe phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:551096c5-55f1-4f9b-bcae-1421181fcd12 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:338ead7b-6a75-4c21-9506-b2eec6808dd0 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:91756fd7-1f3a-4c5a-bc20-a7e3ca92ed0f phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:2d58a7db-9f4c-452f-9290-176c2a0fe0ca phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:c6885fa9-c619-4d5d-9f3f-1225a7cc4edf phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:c5696105-bb73-46ab-91b9-4816325f5e96 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:0b1bc7da-c8fc-4ccd-8273-fa22eeaf3e3d phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:e3db88b7-308e-47e1-abc2-fbafa4fd4beb phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:7d8f380f-eb6d-4742-b6f5-159cef6de525 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:12aacaa9-0b9c-4ae2-8dae-6821d78678fa phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:7c6dd9c3-9995-430b-9399-dbacf4410a20 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:cff13c7b-985b-48b9-934e-36f3c6371b3d phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:08220287-444d-433b-a699-f2ae409a97c4 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c9fef115-48f1-4c86-b137-b6606479f961 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:fdf8f9d3-47e1-426a-8c54-4e033bb14776 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:998f2da4-c9bf-48b9-8be0-4972557c9549 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:89d4294c-b492-4dd0-b4d6-daed2f7f0deb phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:87afb6f5-4598-4efd-8fff-ca84b4cf3aac phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:398909f5-795e-43fd-bf67-c6023f100b3a phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3321f0d2-8e69-4f42-9e9e-e37e32638035 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:b5465147-8335-4c65-987e-0d4503e40d37 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:9f541e0c-ff11-4546-8f08-ef05f1868757 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:39878cbd-3652-4b98-bd8f-63f98c38178b phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:ce31fa55-dd6f-40b5-949b-6d5a34a8df10 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:3095a89c-b2e1-46da-b17a-bea93db6ed71 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:6e5ead4a-e85a-462c-94e1-8ce2edcf8927 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:b6411829-b7bd-4efd-ba08-e5d7b9abd320 phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:20a0be59-f221-4e61-b0cc-e288334a1dbc phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:790e81df-d21b-4310-81a0-0930ce058a6a phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:a6812273-e617-40a1-a097-681109b0f6c1 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:5694cb17-a536-4049-8ff4-36b5ddf01e06 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:e0fac580-f15e-49c4-ad34-9c3af990ce5e phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:2a032072-6b3a-4397-abce-b3bf1ee8fe69 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:e2e10142-8199-4ec6-b6ab-c8b7052162df phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:bdb418b8-4302-4969-a69d-ec3d6b2b2f6e phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:efb8091c-5064-4721-a394-25533aeb949f phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:7732e9f4-1a39-4e6e-af5b-88ce3bdf04b8 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1224fc43-72b2-4fe2-ae2c-0b1636c0bf28 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:7c35095f-f0ef-44db-b187-94a3890407dd phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:e12ca6d7-347e-4552-8b82-a1c9e28e0d84 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:0eb14d5e-cc6c-4692-adfb-2775fe7186e0 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:3703f1b0-9acc-4c41-8b4f-be75a187ef37 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:e572f9fe-d066-44b7-b29e-b618000578cc phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c27ecbaf-43fa-49cb-9254-e6117b9c122b phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c0f914f0-4877-49da-98b8-42415a5276fe phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4e4e0beb-3fe7-490b-aee3-aaf1e0bb99e3 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:2c65b7c4-c30a-482a-a87a-cc12b5ee7821 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1845eeda-927f-423c-a3c9-efb99e3a2600 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:510d05f3-3a6f-47e3-ba20-a2b1035d4b1f phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c2d2f3f5-366b-43ff-8409-6365a1557335 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:9fdac93f-d167-48e5-95bc-d73834b0fe20 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d6d58a5d-7584-47ff-abe1-038ce77f78ec phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4d0c774d-b1cf-40a3-a57c-7c51d0e47b14 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:168f9ab8-666a-42f2-b16c-416d34852777 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:5dfcc250-22fa-4960-8076-7d9d5209a1c6 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:27439707 uuid:7467d5b0-ee3b-4011-9a1f-45b67ac728d2 phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:08f3b674-ce74-41a8-bd85-4786028ec726 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23074684 uuid:c196cc41-ddf6-4b0b-b8b0-338354c35ad5 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23074684 uuid:7d3ca0d8-dff8-41d5-9852-73fb93d603e6 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8ff75b2e-114a-4efd-9983-a79ec0600108 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:f6c6e73b-9358-4ad0-9558-4cf5f8bf7a1b phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:c5f0f756-05a3-4241-8042-4b989249be9e phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:b951ab9b-8d2e-483e-947b-c2a0b4fd88c6 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:7dfc9584-7967-4233-8113-03c25bb56ffc phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:d56d83c4-8d68-4cd3-bee5-9dc0ff6b7f10 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8dfd218f-0988-4524-937b-6c94940f22d5 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:dd962834-bc9c-4a45-a7c1-280fc4675029 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:b18b7c35-e367-4a03-aca1-b1472f67c9f5 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:95884a30-ebfe-47c4-8549-3e475bcef92f phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:0ab5c787-2eec-4434-abe7-899aa87ff1a6 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:9f4fac9f-ac96-45a9-aca5-cedb8c800fbe phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:3a977859-a96e-47ca-acf7-429c9a7d6e95 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:e131f86b-8d56-43fa-bc60-42acdf641c99 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:acd9fc08-2483-4a43-b1ca-fa4d5603b068 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:6542b94e-16ab-402e-a864-13e5e459ef98 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:bf2b40df-37b8-4232-bacc-e8efed85c440 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:81ca2044-c361-4b4e-b92f-2e19e1baf295 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8d8c4ce6-f5df-4517-b6cc-4a9463f3ab85 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:5b0d0b4c-5749-4dfb-87e7-3f2638bc33cd phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:fa115a39-a4bb-400c-ba10-9736b8ebb21d phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8fd13608-523e-44df-9684-46f22d5e4ae0 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:73feab0a-3978-45cf-a8be-6303f9a067f7 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:06cceae8-21b0-4708-9a03-0c3552deda25 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:5563f308-a307-4dfe-bdfe-48bf40a8b998 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:05c7ad97-046e-4fe4-a843-769e6041254a phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:980e667d-5aa4-43d6-b230-7f3fd37c1963 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:aadf23d3-c5a4-4b9a-b1cb-e84cec7c06d7 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:389f8ce7-b3b3-4a36-860f-ff6a3ab72959 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:679e42ed-4ba1-4a17-a149-539ce7ead903 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:50d6c533-b5fb-445c-88b0-18a25f738a7c phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P18M infores:phenopacket-store PMID:23074684 uuid:c1f212f8-f925-4bcb-91d7-f4d6839191d9 phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23074684 uuid:c82e7399-b97c-42aa-ad67-f225813adbeb phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:09d13407-dfe3-492b-b1f0-374100476b07 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:e23dc036-d101-4d3d-b7cb-84f690cd221a phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f9dc0813-d62b-48d6-81d6-8ae039157f33 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7b9227da-06f2-4683-90e7-267610bbcc08 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:97401ee1-c81a-4bec-8358-521b93f0d430 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:ed2f1875-550a-486d-971b-5a931c575537 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:c001b33b-dbb0-4ad5-aab3-1c0c46e8965c phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4a88d445-557d-42e4-8f0c-1a0ca6f26503 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:a84f97f5-ab72-405b-ac59-99b71bf21ecd phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f0896c34-1f2f-420d-a5f1-6e7354fa7311 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fd01b27b-3b14-47bd-9c64-a93cf84776e4 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:84085a0f-8070-4b40-9e57-4558bd2146fd phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7110557d-86c2-4edc-8689-5b26c549aed9 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b2f0383e-1974-4bda-9473-c2478ad04a87 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6283e7bc-86e9-4f7a-b260-014111b750ba phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:053b8967-4a05-4b17-a262-ec4eb4fd81b9 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1caa777d-9d60-47f2-899c-3912f3ce92c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4b60ef5b-81c0-423a-b039-e905e2b75299 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f6f28c9b-2e8d-4b98-820b-de44feadbf99 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:344974e1-064a-4f85-a832-c2f2353699e9 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a4bc135c-09b0-4feb-af7c-ee1c02a68df3 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e652694b-6553-44e0-b56c-093d954868be phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:74dcdb4d-d9d9-4816-a052-5a58b156a367 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:38cf6f8a-32da-4bde-a7a6-d7a0cbda081d phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8ae6e15a-ade0-41cb-8fcf-74126e5afbe3 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d93a3e70-a0b1-4916-85bb-502a50ed6b5e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8f86f770-5df6-4381-b5bd-674bcad9e93d phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:67303ffc-d1c8-4701-9efc-29180af0c0d1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d20e2b9e-a0e8-43fd-8952-1ec873dcfd30 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:03923478-5b1e-46e9-be3c-399f90a7007f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0048ab6b-dca4-4e94-a7a5-f1b0b1fc0fbc phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e79f4054-bc4b-4d68-a552-04317b491c11 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:40861aee-0d35-49e4-83d6-6255c30b8360 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f2bdd147-2025-411a-b8b2-1789a7f022c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2f578536-091c-470c-8513-3b78127f0b9e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8b5f4879-2976-4b18-b2da-ba2f0ba03cbd phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:12484884-8b49-4879-b8d0-8b54eaf24f5e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:668cdb2e-7bb5-49d0-9bc8-6998df1563c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:76dea6a6-ccd5-4c07-8bb3-c01f7d4bc691 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:704120be-ad6a-449e-90bc-cf21453bd2ca phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0f5faa38-4b47-4826-afa7-c092d279228f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bafa43f6-08b5-4b7b-a592-86eca02a0b43 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:37183190 uuid:f9cff37a-ca3f-4058-ac66-c8f07346ae1c phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:b5de9ef6-48ed-4c3d-910a-762e2ba1453f phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:ba452af4-1b0e-4c5d-bee9-3eb3bef44423 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:112c9ddd-3527-487b-ad08-2760905e1430 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:45967ca5-ebd9-4bf5-b1a9-3e7c4d2fed25 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:bc3c5908-7071-497b-99e7-81e2d77f75c8 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:46fd8fd6-9ce5-489d-a797-4794432eed5f phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:6526ff29-c468-43a8-8a42-17d4982a46ad phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:965b34be-5e11-41d5-86e7-a294909bf109 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:af8ccf38-ef48-4b46-a57f-440dc64de66c phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:f122ead0-c85b-4f5c-8630-960e92e9a15d phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:a35d7d21-c7ef-49f3-b50d-1dc819e1269c phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:29f1ef6c-d432-4bb6-88a9-927e4fa18a39 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:1423b68a-232c-43ee-8521-69c6345a441c phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:001b2207-8b30-486c-a87d-b0ff20fe2ae4 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:dc77a945-0892-4cb0-afd8-833c555daa21 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:bb041e4b-a8eb-46d8-95f3-40e745084908 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:fcd386bc-78c1-4804-a167-a04be503add5 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:cb8a82a0-0e18-4860-9816-eec9b1d70035 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:3381fee9-c42d-4b05-9b11-128429546630 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:9784e666-d955-42db-909c-08141c2801a0 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:f513322a-bb6e-439a-9be3-69ab9d9008cc phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:b5db6ada-a9f4-45b0-a0cc-48c4f7b06747 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y5M infores:phenopacket-store PMID:27439707 uuid:14ba0eca-cbd5-47c9-b275-90a1ff385526 phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:11d711f2-d62b-4fd6-b05c-b23f165d4f69 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:46d870a9-f9af-4d9e-990c-0ebdf60a5f5c phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:d07aa196-fe73-4adc-a74f-7b36e9c12edf phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:4a81bb19-0b0c-4914-9680-86d82233e64b phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:cb3fa10c-c937-4e7d-962a-a0eed1181d26 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:2ccb1f27-3849-47fb-98d6-735bea015f7f phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:a88e0c51-fa9d-420b-9779-3a5f40f8c7ea phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:23ded7b7-47bc-4e73-971f-a55bbaeee223 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21827697 uuid:d75e5bf6-79c7-4de1-85a7-44eb46a534b0 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:a9a888be-cf54-4afb-abca-4fa71e462497 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:9622578b-f89d-4c5c-8182-165068f91b01 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:0c87a52d-c58d-4f0f-b258-53381cc09482 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:01383245-12f0-49a4-924a-64662b6506f8 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:ea88cc93-1df7-495f-a0c5-da903b8cad49 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:d3316908-6e47-456f-9de6-5d20739bea18 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:ac9a325f-17c5-4e9d-8011-78b067e1c2fc phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:f6373672-34e6-40ee-b394-936fec2de982 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:8568a963-a7fd-46d0-9ff6-463c7ce34325 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:de7c7db9-64d4-42f7-bdbc-a3982da2ebc2 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:c8d8e666-3ad1-44e7-ae2d-54a682010a68 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:b2c236df-dd97-4f5b-b64d-c39d9bbbdeb5 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:e5d95e68-b863-4fb0-aad3-dd8016bb6e7c phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:11bc63da-a5c0-4b8b-aaf9-ae975c3d2285 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:931acba3-acd3-41b6-be8c-463a52a6d397 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:a5e64db3-cc15-4c80-ae9e-bfb2a6a62fb7 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:961c5a48-14b8-44bb-b53a-e5f3c0b12008 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:16c7e71a-4589-484a-8191-66d8025dcd89 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:608e030c-f35b-4b65-87ef-6c903fe85f32 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21827697 uuid:fea11b7e-eb13-4260-b241-54e7d812e731 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:77b589c9-3988-404f-ba9d-778b7fdbc868 phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21827697 uuid:8de67254-1ade-49f6-808e-921cdf7229ea phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:32a0bbe8-de2d-4ccd-b325-41d5ce970642 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:6f1175ae-ffb4-4a63-b9b0-0f6d754624d6 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:b8bec757-c4e2-4132-8052-4cffd24d2ea2 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:6e8fac98-765b-42be-aa47-1ee8adb26785 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:d83de2a5-dc14-48a0-8e14-4c54420ff115 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:55cb0c41-c922-4df2-9fdb-6454bf3db7b8 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c19329d6-fecc-47dc-8a16-0aa7050320be phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:92f47531-3587-4f70-b9c5-ebe6499275e3 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:07eff226-4a92-431b-ae8a-9a24489ab720 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:ede9161c-90d0-4d9c-b592-33d41b6ada89 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c12be9e7-0a19-4c95-80c9-616c93121ace phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:be0db2e1-22fd-40a0-b4a8-44d330918eee phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:4aac0725-9069-4154-878f-ee7195c2c7f2 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c5bd1171-6a4e-44ba-95bb-e714aa87ab57 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:16b1b108-ea4a-4aed-abb0-6a8452bd67fe phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:ce87704d-97c4-46b4-8d8e-e910287abce3 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:7b28df1f-7746-4476-9d18-c50430584b42 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:d10cfd2c-ebc7-4fdd-a495-fc6cd3e5b0fc phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:94abe38f-ae9d-44f4-a61d-634510a81f5d phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:3bc5442e-0082-4195-9f42-1d300759372f phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:ed3f903a-50c0-43b4-9b2b-0db5071a74ee phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:20981cfb-2d65-4012-a556-2e79a0e3f3dc phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:d6eb3e92-f5ef-463b-bd39-0661c1fc0a49 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:7de8424b-1e96-4fc7-bf1f-475313c50b38 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:88c67ba1-8c14-44e6-9b7b-be91b23981df phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:24000744-a71b-4f86-ad90-32969f884aad phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:fa8e3226-fd4d-4559-ba39-bfd4eeaaa519 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:661067d1-2179-488c-8bef-4b8fbd49ed1d phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:b7130620-1a96-4a3f-9fc5-2e91f3ff8472 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2f473e97-553b-4f07-8c04-418618190d63 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:5674f2bc-a188-420a-822c-3de9d9d9b18c phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:e9b8d57b-7464-460f-ba8f-32752e76af38 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:155080f2-e8be-4667-83f5-2337cad9800c phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:a4b8c71a-ab7c-4c17-81fb-95b2f43b3866 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:30ca3b54-31b8-4c2a-90ae-2fc336aed624 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:da8d53b6-704a-4da2-8ec1-4cc205618b72 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2e8f261c-91b4-489b-bac7-d67ab85a7c15 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:875b680f-be50-4cb9-aeff-b8473b0b659f phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:b46eedb1-c0f1-4d25-a1a7-e6b12f32a178 phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:8fecfc71-5589-4044-a79d-e0eb3ed6125f phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y11M infores:phenopacket-store PMID:34778490 uuid:812b5e74-74dc-4562-aa56-3cc1c1588e54 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:f882bcda-ee29-41fa-a33f-59132bb0ded8 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:14ec8117-a9e3-4f1e-a94c-9f4b650a8522 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:e2fe4ee5-3558-4b99-b1b6-90e3f80b54c2 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:544a513f-b1d2-4af2-8de3-8de39589f5a3 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:88baa4e7-7cdf-46b4-ad36-9128a31cf712 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:9b837209-97a4-4d0f-9fe9-60b541ff0e42 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:4de03c9f-3911-4dac-8152-b7310b57f66e phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:ad8219af-5784-48f1-9683-ec4ed18f09cd phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:f9de7793-ac58-4f76-8552-e1f374019f8d phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34778490 uuid:02518d2f-dfde-4783-9f70-b660a2614e76 phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34778490 uuid:2ae303bd-44c3-4239-a02b-fe5c83c650f3 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:385b0eb9-0dfd-4a91-86db-f7a54cf1dcce phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:bc06cd96-3c27-4c03-a12f-14805c7a725b phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:34cef278-a701-4d30-b2d7-2565f995d1aa phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f0c09cf8-b22d-438d-84bb-76c50ddb445e phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:484c223e-bb4a-4bdc-aafe-53a5e18a27f1 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:789822a3-0719-4590-83a7-96bda0c1b706 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bd7fa59f-c8e3-4349-b31a-c2831d2f50de phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0f05d22a-8d59-4540-a654-953e028d08b1 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:649fa7be-0586-420b-9ebb-e48284b51be4 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d93d7b2d-0372-4daa-94ac-449fa90fc89d phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7d60503c-e4ce-4d00-a0c1-82644d09932c phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2e9479bf-9b91-41ec-af44-1c4bfa86c14c phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e148c570-af18-4d9f-bbb9-d6c59b722743 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6abb30e4-57dc-4c98-9187-b0797998ddcd phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c96557dc-4ef9-4f2e-add5-a6dd06a29479 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:54f1371f-107e-4cfa-b6e8-8f86b9284d94 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:79d3f035-ec7b-449e-a5bc-88f31de693f0 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f6559f6c-da9a-4017-8c3d-a4fa513e64c5 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6594f7fc-a8f8-4d5e-876a-1149b1b4077e phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1f050fd9-6ce7-4f40-b3dc-9f37001d3c0e phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5a8a1169-a6b3-48f2-a403-d648dc35a061 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5c5fdf29-c358-4f58-a262-0e8f38d363e6 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1d95404a-7162-4656-8e4c-068bc603896e phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bc80b040-6624-48b2-809b-57124e2bf2ee phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9810acff-e95b-4450-866b-fd316b721356 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5a271c5a-0cf0-487f-9c28-63f7c03a707d phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:abcbf85f-f8b5-4d4e-9f41-15327400cb78 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c93a9613-c93e-4801-bf32-5f7306918c15 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3e982997-276f-438d-a5fe-24917166965d phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d38acd01-9a6a-4b84-900d-1eca154c9e72 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:49b414c6-9f62-4448-ac83-5f9bf61a0895 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4fac54b8-05b1-413c-82b4-e78e08dd81ec phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d2ee5080-0914-46e9-b19c-287cc6d8c734 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:07784f7e-ffd8-4c79-8de7-8cd38f1c1204 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d00a5d2a-d6bb-4712-af0b-a9d0735002a4 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:aaee999a-abb1-4f91-88ab-219e73ebccdc phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2c36ab39-c09b-492a-82c8-caac8be756ba phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3b30e560-694b-40f0-a46d-742f06e4d1d9 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c4d522ce-1553-40eb-b485-63272e89dff5 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8545067a-0ee5-4789-b950-b344eafbd5fa phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37183190 uuid:eaaec8f7-2c66-4817-a21d-5ac13c617652 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:2ba3db9d-e3bc-40dd-923b-ccb87e09216d phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:9da18a7d-7398-446e-ba66-85ac61dc245a phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:6754388d-d02f-4476-a57e-6d33ccdb50e4 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:18214804-f697-4f47-9c18-247b8640c626 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:42c7449b-6796-4a9f-94c1-e57bd2a3dee6 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:2e819620-69ac-459e-ae37-adafe7b7db96 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:7f199a5f-9a60-4eb2-89a2-30d82e524b35 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:087de543-b4e9-4380-b2b4-31b1c0f610fa phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:e50106e4-92c9-421a-8aea-0e4444f865d9 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:3d2bff96-c9e8-488f-8a5f-d506235d92c4 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:d88ce424-5495-48a9-88d5-d35f02aa1ec4 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f933792d-61a8-40da-9ff0-941824fd9141 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:751ff650-7700-4cf7-b053-cc686a3fd004 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f211347d-36bd-47cd-a525-f6f929e8c4e6 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:bfe119dc-981d-47c6-a9d5-61c8e90c79b6 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:d012209b-c3d4-4d1e-8726-3fcafe8de285 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:04560f82-9997-4b0a-ab92-5ce9f2ba9eec phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9097b17d-8830-4b20-9462-bdc6ae56c654 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:cd53c680-8247-437d-9673-f6878e879cbe phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:b26f2303-6bec-447b-a376-2d44e4d4d6f0 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:26fe5753-6fcd-45f0-8d27-ee8a7187f2af phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7683aa72-cf58-4a29-8f92-ce0ef31105df phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:decc081e-1da5-42f6-81b3-41516c987255 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:5c9743a0-14bd-4e1c-88f0-756ace3552de phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7d495530-4036-4cba-81a5-b38dc48b1048 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:e7f93357-501e-4cbc-9254-f9d15b75cb39 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:442a38c3-02ea-419c-b529-54734ba23703 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:978e19f8-16bb-4fed-9530-ca5ce15ee4e5 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:257c04cb-92ec-4cf7-ba45-87d5f7353867 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:f4878e79-4b04-4d27-bc90-d083aef924e6 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:5ffcfcdf-792e-45e8-8a0f-9106c5937ab0 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:8524ae70-1042-4b28-a2b3-c181c25d5422 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:00cc87b7-b77d-4377-b6b5-ab506a49e963 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:c080eb62-b672-4dae-a909-8c8286a7dbd7 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:90602969-efd7-428f-81d6-159be5d40086 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9f83a7c3-a48e-4bbc-ad2c-6aae7cd07bed phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:dc38cf24-6256-479e-a620-70e1f52b42b2 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:bd442c86-c0e5-4833-9992-89782f2c3a55 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:58939363-1761-474e-b179-12fc2a6f16f6 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:670ca55c-fa40-4b07-bac7-696f0236c285 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7bf86ff5-d540-4dba-9609-fa510c7c2696 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:832daefe-6c4a-4666-ad67-6fefa542f4be phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:801d2578-1117-44ab-ba25-c76d21ab4ea2 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:a050a0b6-c215-4af5-9b37-576383872a1c phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:5ad41cb9-e591-45b5-8680-b73a35d28526 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y1M infores:phenopacket-store PMID:19896112 uuid:d7ef8f87-9b5a-4a7e-872c-7f4db5bcdbd4 phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19896112 uuid:ce02018a-110e-4925-befd-2d4020ae5832 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:599ecc46-5e8c-4f41-8e4f-d65c89418116 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:a13872b1-8025-4c2d-8533-1930c6e65c18 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:e5bddb58-da2a-49ec-9bef-4db4a2b8d047 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:9f8ae812-d22b-4245-9a39-bbbbe7fec0e6 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:c2226241-367f-4a4f-a9d4-d101d769468d phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:16412a1b-2b4f-4749-a707-760574645b89 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:f7e726a7-f485-4e54-8d66-2107b37f8296 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:e3046f54-f704-41b3-a139-ef0b01dfc09f phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:28f1aa83-aa62-4346-8cb2-8982ed6a2296 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:2a79a6ea-a0e6-44b8-b41d-0f8c66bc1330 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d1173016-a3f9-48ea-a4cd-a3f06cc4e900 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:3de1ce4c-463c-4d6b-8cd2-ef7257113b51 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:f5e17d1a-4634-43e5-abda-41ff1456ac85 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d5a145e5-e6ab-491e-8cf0-4388714bbb94 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:61143a4c-3a91-43ec-a205-41f6afe2db21 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c662ca94-c7b9-47de-953e-5f03fca9f0a1 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:80f48c8e-90a5-4f6d-a85c-d633782d148c phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:9ff13b2e-8e02-47f6-835c-85ca3fdbf5c5 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:2ce61ba2-f875-46be-ab7b-1193af6a29c3 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:0611291f-358b-4f09-a6ff-ca955f12af8e phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P3Y3M infores:phenopacket-store PMID:27439707 uuid:ffee7ab1-7144-4397-926f-692a3d928153 phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:0f4c6cc4-29f1-4b12-942b-674b42636cfe phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:b002b4b2-4ec4-4e6f-8102-1cd268fae30e phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:547c8493-3032-45f0-91b8-597e1e141fca phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:dc769d0c-f6b8-4ff2-9489-0d3708b919ab phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:814024e0-2891-4700-8887-daf4b3ba0ebb phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:172c58cd-c50d-4979-bada-46565fa6e1bd phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:416685e7-cc5d-4867-9977-132fcf09daa8 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:12ba7791-7c52-4634-a53a-640dc967da64 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:748600fa-0fed-4016-94e7-a7852539be9d phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:0b8cffb2-35df-4616-8b8d-2e9b6b4eae4c phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5e8c50fd-156a-4494-b3f3-717081ca5ed2 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4a1b1609-c380-4278-9811-22d97f24998d phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9469550a-778a-4145-968d-b62813e39284 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:416996d7-873d-4130-b386-a22f282ac3c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:205130cb-a04a-4cda-8248-a299022e2905 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3812aaba-fb99-4c9d-b050-07fcec1a2818 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3290632a-827b-47ef-b949-c0a0443739cc phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:76eff403-e60f-49cc-a3db-e93b83ad1432 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bfac4cf8-4a0b-426f-b1f2-70e808baae25 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bd9efaaa-b6e8-47c4-94cc-42b8fa156d87 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7eb320ed-546a-472e-bc4d-72322ebc2466 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5a7404b0-4611-4e1c-951a-0ba7c57968ba phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8ee572ba-5d06-4c5d-8269-423da499df4d phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f656378a-088e-4a71-9cd8-e63d796f0285 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cf342f60-1443-472c-929e-71522a6ebd63 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:90ea91c4-ce60-44fd-9f69-a3f41490ebb7 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e7662a87-ad75-42f9-92a3-ab42dc1ff36a phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e015d292-8316-4e85-a723-9ff45859bf26 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7e482063-5cec-498c-aa6a-69f0d7121276 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e4618f89-def2-4c13-94a5-416ba833dbc7 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ebfe6820-b182-4fb0-8e43-e1e80d124ef2 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:29a119ee-c49a-4724-a83a-d4f033fb221e phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8a4ea160-2c0d-4bed-9920-a9feb799dc32 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a40123fa-704f-4958-b9ce-1082231bbaea phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1d610151-4dc0-4c11-8c96-a7cedd3a7b03 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ec8c7768-11cf-4cea-85c8-186ff409de59 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fe0a988b-58ea-46c2-9f63-497043a790dd phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ffb5014e-110d-4406-93f6-5c3e2614454e phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:34337659-021f-4fcd-b5a0-a629b3d75456 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0c7f943a-13f1-46ff-9fa4-3df7cd74e9b1 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:eea486ae-a512-4460-a72a-5841127e8a25 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3dce46b5-b061-4623-9009-49cdb1070347 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:15fdfe20-fd1e-4338-b261-8f6321d74b1a phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37183190 uuid:6637d8df-2ad9-465f-b7ae-d914faf4b510 phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:38f2a902-30f0-4bf7-aa88-85c38fa57879 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:410b719f-5d44-4523-83d1-1a0f72833a5f phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:799dbf85-0b0d-4573-9b93-682c9f0289f7 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4a452fb2-0f3a-47bc-b9d5-c75f92525d2a phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:e172b17f-84d3-4958-91ac-812c66b17083 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:93261584-8fdc-4b72-a20c-53585b831d26 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:351c2d55-3b2c-46ca-bc5c-0556c032f2b3 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:de2c484f-0334-49ff-aacf-458c4eb1b470 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1530828b-f459-4194-8c34-1f7944660e03 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:13fa03e2-ee06-474b-b512-97972fefa4e8 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0827af0a-b7cc-4c17-b7d2-a62e58a0389d phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:677d0f39-3024-429f-a4e7-3f3d2c3b64cd phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b2a0d602-8eff-4e1a-abea-2fa5fe664ae0 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6b81b469-dd21-477e-834e-4336bcdaf480 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:78fe94d2-dd7f-4ebb-88cc-577929d7f8a8 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3e7087ef-62b5-46c3-bf9a-6ef50e666232 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ede02aea-d47d-4dfc-9eb0-6d63b11b07a0 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b7682a3b-0872-44a5-a133-f681c32877c6 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9a483af3-2eec-4a47-a40b-467bb7ad02b6 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4d62486e-c06c-4949-8055-248f9266c2a7 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5f731601-b629-439d-a151-657ca2fabb1a phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:82797afe-ece6-437c-a7dc-46ea04edc212 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:397267be-6190-4762-8271-2e7439123dc7 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ece4fecf-b9aa-4ed1-8e2f-7b1da5a76d15 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e8b949d7-6060-4c34-8dec-e936b6daf9cc phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cfd4145a-125c-4db3-95dd-b126af9b62e1 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:46d1e68f-7634-4c44-959c-e1c9c5df04f4 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:efc0b203-2ad8-4a54-964d-bd908593c0ad phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0aced2a8-461b-40ce-ad81-e08ee3870693 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3db122bb-54cf-4e24-9c0c-5828a141cb39 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9456536f-5311-4f47-89ad-624f175b3a60 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:15075ce7-3c29-4e06-917a-b278fc44ed91 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9f3d9d3f-1516-4237-9b09-18fdccd75512 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6424f19b-0450-4acc-a6d4-5298ec2f6c64 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6ed254f7-06fe-459e-9961-32414f853870 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a78d4f10-67f7-435c-8a1b-d96e92192fd5 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4fd395f6-7835-4e8a-9c40-ecd2b06e9893 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:86ccb1cc-0b71-4b62-80c2-6752793a3191 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1d6da71c-0947-4b19-91fc-32fcf03268cc phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bdd5d371-c9f0-460f-ae31-c612bf1420b1 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:39467343-2dea-4ac1-8a10-040cd5b843dc phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:82777013-56a3-48dd-9176-103a45f3f32f phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dd71bd73-20d6-487d-b160-ca60d52616d1 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4b4daa93-0647-4afb-b042-713e29417f7e phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y7M infores:phenopacket-store PMID:37183190 uuid:c64c7338-cae1-4e17-952a-56b0935cd6e6 phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:bafe7141-5538-48c0-9228-348dc9b4c872 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:30762603 uuid:2263295d-c143-4b5a-8a8f-fdf1f272ff9d phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:7b9cf371-2feb-4966-add4-6eca939c1564 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:44d9a664-b525-47cb-9e5c-f5819ed30f49 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:b59d7bb0-431b-427e-8ede-30f93a3572d9 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:92c27be5-783c-45da-af84-73b4812e53c4 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:cec20030-b3a1-4b2e-b64e-a6f47e4a7281 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:309feaa1-872a-4dd5-af8c-ed8bf7018834 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:6e915297-06aa-4424-a651-56c83466e275 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30762603 uuid:2a5306a0-b526-41e7-a6b3-65aab56aa715 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:dfa2684f-b495-4889-bdd9-63a62b5d6449 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:085b2fa4-f213-4dbe-be6e-a8791f8db303 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:84198898-fb21-4e16-94c0-3925b4d87f72 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:d698592b-9c6e-4224-bbd8-54fa9e9b4090 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:b855a2e0-636f-474d-ad24-146395245b6d phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:111e51b5-5eb5-4693-aa9d-52e0ccbd0cdc phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:2f31fd5f-4473-41d3-bace-cb15f1f6e1e8 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:60f0decb-eb78-4697-a062-b319ac686966 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30762603 uuid:3fbe0f75-aae1-401b-abba-8b8b42688ad4 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:30762603 uuid:8d9d0381-0ed9-47d4-9877-b9d0c8850a19 phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30762603 uuid:0e948d55-2be7-4181-b4dc-5ff74240c154 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:fb062cb4-4d49-46b7-9981-9cf7128d4606 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:b007f96e-07c1-455d-a8ea-7c2ebf0279a5 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f04b622b-2f63-49cd-bdb7-65c6d90f2c01 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:9fa68c2c-2b38-46a2-8df3-ac7d6faae415 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:09c339a6-7a07-4ae1-ac12-02b05c3a1c35 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:b6fd8de7-8e2d-4237-ba4f-10723fd5b178 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:63c37f70-a9b0-4ab7-b13a-633c7fdee8b8 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:c95e3cf6-b8cb-416a-a926-189cd18651f3 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:3d9ada03-8de1-48d5-8d6f-9cdd41c1da72 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:1deae00d-ed4c-4fa2-b50e-3ea35aadaa68 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b9070f8c-30cb-47bf-a5e4-da94ec639e73 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:48173df9-c241-47b8-ae20-af4c80888ff0 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b98c5871-7f58-4dd6-a987-6f55f7fc0d29 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9385a0f9-70f7-49ba-a4a2-1bdf1a3dcc70 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f906b392-d131-45d1-86d3-7ddfcc031dfc phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:589a2cdf-56a1-448f-b5ea-071f3cbc72bc phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:849b33ce-2c70-4cfc-b781-85d1f04d41c0 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c97e7924-9453-463b-9c45-aaa0fa475a21 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:51f894ed-5f7b-4f4b-a3b8-3f602ef8c6ab phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ef258736-d8bf-4764-8362-6c12aa60c689 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7908962e-f572-40a8-8d36-a16d16231a34 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5e8be131-8a54-438d-83b2-ed01eedf3d0e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:aa64cbf0-25d0-44f9-bc3e-a0d12f9c0626 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ea263d70-7bda-4a25-bc12-b60c6d00f42b phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ae8d7725-362f-4baf-9aea-36e91081d5b8 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3a6d0c4b-3f20-4f77-af60-fb5ef3f1572e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d7ce400f-f9cf-458c-91e9-17298eaf9353 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f75cbc4e-50f5-44da-b3b9-3880f93c8eff phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:49686857-0026-45f2-b66c-8fe5734414b0 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:45808c8a-9729-4ef0-8923-c4eb022a14ea phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:23ea2e47-3fa6-472c-8dcb-1a8e9c5e8404 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:98936858-1697-4f32-b724-132316550262 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b688ccab-38f7-4ef9-849f-955b04b70d2f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d522236d-bd8f-47e6-a179-e115d500d46a phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5c543e25-7d94-4c69-8c79-f1db81a66008 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:caecb653-4645-409e-bb73-131103ce58ac phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:249b2bd6-085c-4058-8b61-77f6e0fb579c phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1605217c-d0de-4063-9476-7345dfc5aea2 phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8b6558e4-24c7-4d4a-8c99-51861526d59f phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a1697be3-9086-40e3-a8b2-2adcd43b045d phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:25d3ffe1-0a29-4157-91f1-e69a79eaf45e phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7254cd74-bb37-429c-bc34-52d89f88f9bb phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:37183190 uuid:c59ee57a-59c4-4841-be85-d3648ffa751d phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:dc638ba6-4088-4f6a-8c0e-acf788baa431 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23074684 uuid:91639b25-9a8e-450e-9281-d823ccf6a740 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:24a0f645-761c-403d-aba5-1231c6da1ff6 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:d019a3df-8a0d-4370-a09e-3fa8860b3dde phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:842e1a3c-0ca7-44ca-9de6-ef757a06fd31 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:5029df79-0f43-40ba-8eea-b8d9ec4fa02a phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8404f068-02c7-4d59-8efe-424fa06b032b phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:a07ad246-a40d-4e3a-b9e4-0969733574e4 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:5c5d1f55-a3e1-40de-bcd2-e8cd2b0dbdb0 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:42a05c76-2794-4eb2-a656-2fc53252f73b phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:003c0f04-1406-463c-9eec-f2006a2a41ad phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:08861aa0-44ca-4374-ae65-3c8a178083eb phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:99842823-15a1-497c-baad-aafd850d1883 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:17ec923c-4b7c-41de-90b5-de9e33edc1b3 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:0c625e97-f098-4a94-a733-be9ff7cb81f0 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:1d2be078-1939-45a7-b268-b804d9d90f57 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:720eb4f9-57f0-4ec1-81a1-5cfa7f7485e3 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:7088efe3-3135-4461-a558-05ad7e026105 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:32e61814-eca8-4b78-a4f7-787c4278679d phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8151f215-1614-412e-9497-d582a36deeb6 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:e3248d06-f30a-4a25-9b1a-0fd8a10bc309 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:562679c5-31ff-4337-801d-d60240b32a8d phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:33452e94-c985-485f-9b43-1f0a93ac45db phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:eeca4342-897c-4261-af7d-a04e799cb573 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:8cc103e9-70a3-4faa-9421-7c3dd0043c93 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:5a62dabe-d03c-44a1-bd74-cf29117c2d26 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:f1929d27-4531-49ec-85e6-0e74cb2c7d02 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:eb00773d-cb69-44b9-b001-49778779ea8c phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:bf95471b-6fe8-423f-b986-524bb1587539 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:0f34eb30-c502-4509-b15d-538ac4bc10b0 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:fdb558cf-29c8-40f1-87a7-30d9333230dc phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:18a43a6f-fe15-4dfe-bba2-6abb565cb5c6 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:774038f8-a11e-4eca-b9e2-c1c4ad44573e phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:5292910e-1bc9-47ea-b54e-e549659134cd phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23074684 uuid:61b821a4-3f53-4258-b17e-4f1b72ad0acc phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23074684 uuid:76723ba2-7160-4412-80d1-5bd6c2c8ff69 phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23074684 uuid:32856087-3317-45fe-8d5d-5ee84892c44a phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:44433d6c-891b-4851-aef1-0cc4d2090002 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:f9f92366-48a6-4d01-8419-23cb409865e2 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:e6c1a529-7e86-4a65-88c7-3ccc2b875fca phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:29e2708d-cc96-44c8-8b8b-f96db4a3e7c6 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:4f5ff268-a2a9-4ff1-bb4c-6bafb86e5536 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:737b706b-4d60-4994-85a2-2dfafc465c5d phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:009984bb-742e-4dbc-bae3-94bcc6da8f61 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19896112 uuid:2a30e919-513e-47f1-b4a2-2baa68f027d5 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:5fca50e3-36e2-4e4d-847d-35573e81aabc phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:2f8ce6a8-b216-4670-9007-27e8697359f4 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:5ee7869d-6fb0-4946-b685-ec6060bbea20 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:bcc0f754-8302-4752-85b8-4267ed1dee88 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:a57846e3-c8a9-49a7-a474-c394a1fc7e71 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:04013c21-4665-49f4-99b1-406462f01dda phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9483284e-f6de-42d0-856e-6c06a3bb57d6 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:bf6d199d-6454-4a9c-bae3-1f8b0e523ee0 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:0ebe7eb4-3b91-48b6-9120-5badc282dda2 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:fcc70f93-6194-4b3e-bc0f-ffebb275c6fd phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:cd942f50-3963-4343-b2c2-846339b47488 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:63649bd1-3d8d-4653-8916-072a458cfb64 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7c93fe8d-46c6-43ef-b462-d665b205314e phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:c5a9b38a-f8ed-4152-a003-5cef414a785b phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:ff7b68dc-60de-4c06-bad8-85e9c37b9116 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:e995d775-23f0-4e88-8ada-895aee77aeb8 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:1e59fbcb-1e24-4904-a927-e62354f41af8 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:cc0006cc-1632-4480-8592-61e131b58204 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9da0f3fa-d6d9-4d10-b811-1d64f14c959a phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:22ca70c9-a162-4cc6-9022-42e80330a7ac phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:960ae542-a3fc-4424-93d7-6ab71b651745 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:10a873f8-4825-4d8e-b0b2-3688ac3c2287 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:bf901321-037e-4e09-ad57-03a7e180e595 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:77098d60-5cf8-4e82-8513-e42cc35cd1c9 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7bb00820-4dd2-4298-a64f-964d7c222cbf phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:d1e28646-977e-4737-bc5d-94a17f44312e phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:d5d28a09-61e0-4f07-b020-0a4483a1bc9f phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:5c31fda0-0569-45a6-8e4f-77ebed1987a2 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:651948c2-96dd-4205-ac61-d0eda4fdb24d phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:be8bd315-64d8-418b-8d58-f909fb754052 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:7413f2fe-9c13-49d5-84d7-e8eaeb07af1b phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:d606a380-05d9-459c-a6f1-49bb15abd36e phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:2bfdda1a-105b-4690-8991-6606b8d75050 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:06dd8a1c-418a-4549-b625-dc54fb06ea8b phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:9bfd82c2-3b83-4409-933e-073828149d59 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19896112 uuid:ceaf62a1-4ed7-4b83-bf94-992d7f0ccc97 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y10M infores:phenopacket-store PMID:19896112 uuid:66c581b8-7c24-463f-953d-e4a39a1a9c10 phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19896112 uuid:020466fb-b6ad-468e-8253-485e9d71f77a phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:ffc5ef25-7b0c-4cd6-a042-c17327cc474f phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:8b37ec50-2a28-4a9e-90d9-691b633aaa5e phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:f41ba76e-ca37-4649-97a5-f7c458d3a45b phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:e497b29b-5915-4203-802c-2cae329909d8 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:07041b33-a338-45b9-ac47-091f9a76a5c6 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:66ec2ff3-badd-4dcb-a641-b01d715e9962 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:6ca22cb3-2da9-4cd6-b643-84a81a5a0af4 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:0487bc38-280a-43fd-bc9c-f6997053e353 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:8509d5a6-44d5-472c-a2df-a5f25e3a182d phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:9457c190-c05a-4591-9cb8-6ecc96b6fc00 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:0f75b761-a0d1-499f-a0ed-0481993b8697 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:ae5e1128-b781-4be2-9cd2-cb6721bff046 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:89f23721-2981-4ac5-a1fd-e5490c1728da phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:37cccc2f-aca4-4f73-9a04-04c1907c22c0 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:52f6621b-0cfe-492f-8773-8ca861720d89 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:3395d96a-dddf-4798-978c-51e1080b39c6 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:109056b7-875e-4c5f-a025-415b38ae33ad phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d46fb30f-eea7-4926-a12c-8df166b95e43 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:545a72a0-72f5-422b-a6ab-52b5973e6053 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:5a37e622-f1e6-45b3-bbf2-0df5c2dcf56c phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:298af3ff-7afb-4958-a82b-761e50cb06bb phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4054ffc3-8576-4d47-a73a-3fecf5cd2351 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:30edde8e-c2f0-4042-bf28-1d1be1768e45 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:8da35244-a4cf-4e64-93f6-25fbf29b7e07 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:821f14b4-3085-4b5b-9d68-b1d312519637 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:6a9f9104-3b84-4696-b61b-809992c15b17 phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:27439707 uuid:38e28b2d-ae9b-4b63-8078-02bc52f4922d phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:660a70b1-b953-42e1-927a-4418891df0df phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:69b60862-523a-4bff-aff4-80c634c35af9 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:48904cc6-2c4f-4f38-990b-edbeae663860 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:530c8a8a-c955-4a8e-91ed-bb9a4d2fdd61 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:bab9432e-424b-4003-878e-0abe5b08c5a0 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:872ed335-9464-4cc6-8ff1-253f69bb19a8 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:fd414902-ba63-41f1-8c85-ca68f9ca8a99 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:cd13aee8-8525-49a7-8e0f-6a44809a8fe0 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b3e3d687-a4a0-43cc-b656-4d5257a02291 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ea9377de-123c-4466-880f-6214109ef5c8 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b02f08c5-39a4-460c-bd1c-fa09c6c6f211 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8d04a465-e12b-44d6-bf28-bc49b76ac39f phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8f8ef014-f84b-4911-bde6-989b15d72c06 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a42abb9b-72b6-49a3-9de7-f5d4f19c2ae8 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:47aaf926-535b-456c-b95a-6b6e48656b19 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dde8ccd9-1c50-4467-a9f5-4b9e335f0ab4 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f822b7cf-0dcb-4e04-aa91-5b755882c59f phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:72b2ca4e-a15b-4b97-bd55-70bf6a09e0b4 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4541232a-3622-4fb4-aeb1-47ed0866dc27 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:da70d535-6524-4610-96c6-ad3ddf596b61 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e5d443e8-8258-42f3-9e87-10a9ea4f3949 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f56c23f3-083e-4df8-bd6e-3574b7aef17b phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1a30cb08-021f-4533-9303-8e6836c7e943 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c0650cda-9ca2-47db-b0b3-12f193add8fe phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:06b110dc-c0a1-4e47-81d3-307950359e2c phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6c4d96d4-5d99-452d-afa0-8284971bc216 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d973d479-5770-4887-998f-9381d39c11ca phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e9e4122b-50b1-4076-9419-4dd9b309b62a phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ed6124b1-9c52-46be-8b11-4dd5e85c9c75 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d2fe44bd-9a2b-45b3-a487-9afa1a91ab9f phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4cc4cde1-e437-4e07-8ca6-6556222b65db phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cb30525f-9dd4-4a4a-acfb-c4e33834ad95 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5d63ddd6-59ee-4d9c-b736-0bd83c55ce1f phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5ddbdedf-a131-4c60-8b10-229f496db4e8 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e90820ae-2582-4e99-9860-b8e4c03e6f03 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7d0dd0e4-0dca-4919-93c7-6be6fcc3dd67 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e5da572d-c5a5-4ba9-a318-5bd2f55e795e phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e95068e8-b0cd-4e30-ad50-77ffbe0e6e07 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:00a2bc15-f668-4a8a-b4dc-546fc6f8cc63 phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b8d08c70-a5f8-4fec-857d-889d8e69bf2f phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b5b12c05-6113-4238-8aeb-6e0b887e022d phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:37183190 uuid:58337d50-2424-475b-9e18-2f61f40dd80c phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:a29f76ec-75ce-44a5-84d0-a128972a7911 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:9cab7d87-08d5-4edd-ac65-8cb2805a692e phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:155c1d2c-3714-4372-bf0c-0a5c85b9a20f phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7045e97e-7cd1-480c-abd2-3765fc237464 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:dc687a24-1f22-483b-92a0-fc91bb55e52b phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5f5dd0fe-fad8-4976-9872-957ba44ae99d phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:924b217a-4839-42cd-ac62-ce07c71a87b5 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:23a0f8cc-8696-478e-9708-942249bcaef5 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3e3f660f-5637-43c3-b13b-07ef530989b7 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7a8a2f88-99a9-4b36-b14c-b5bb146dac12 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:16ef9a70-fafb-486c-8c57-04225b89b21a phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9522fbfb-2a5c-484b-a840-2cbf8041904a phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a7bc642e-a695-493d-802d-a83a80ede79a phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:55b6c6b0-2d05-48e5-8545-30ee9faccce3 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d93f5dac-07cb-44fd-9335-e53136d620ff phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:86e4c957-b994-4149-8bde-f9e76401d1ab phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:68ae9998-7414-4c39-94db-bcc123f50c45 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b68d2b2d-e737-44bf-aa7a-91663833a2ad phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2edf8bab-fdc8-47e0-ae0c-751b69ff4b0b phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2ad054c5-19ea-4c86-8788-70ecd14cc42a phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:da91c75c-5650-4661-81ec-db918403f040 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a2796a17-8ed4-448e-831a-b732d21de574 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9e07ad92-5ce0-4f9b-92d4-41a9d7b77c68 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6588ed0d-d457-43e6-9d88-db7a3b4d685f phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:872938ed-d16b-4afa-a7f6-22724898524f phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:26198e3d-b515-42c8-90ed-053556f5976f phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7f719c4f-66f7-4b77-8068-8f41454db8bb phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:82c44b1b-20a6-4fe7-9d2c-e2184b388986 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cea72533-4a09-4fba-aab2-8205ef16183c phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bb179dba-9b9d-4b74-b966-469b3521ccce phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:03d607fd-cd89-4940-bce8-3d07a1afff8a phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8d8e3c98-81e4-445b-b9ba-baf4cccedb23 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:accd155c-bf09-42a8-998c-8c2cfdf0f5fc phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ebe8d354-6238-4806-8668-b17b42d92d05 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6c855c54-1f84-4c18-b8d5-81fea24e0125 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1bb5d06e-ce40-4536-985a-fd80fb0f3dd3 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f6f0ea49-2a7b-41b6-9dc0-d001cf78d34b phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:97614b32-df2a-4a54-b988-7624f7e4cf08 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:942e517c-3501-4450-a42e-d52015f02f90 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:91af92d8-c724-4b77-b629-f8f4b0877802 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b0855715-f3cf-44ae-8600-a3ba7120cae3 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0067b37c-f38c-4db3-a586-8ead7486fe0c phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y9M infores:phenopacket-store PMID:37183190 uuid:be799fc3-7b52-4964-a404-7cfea28bda49 phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:42c7f9c3-b170-498b-a8c3-ad0d77be92c2 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:79db0628-53d0-45e8-a7d4-d52994b16615 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:ad2bc2b6-e6dd-4283-b40d-3ef8da94aac7 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7e5c7c21-a4b8-4f2c-9ea8-98c748d27c8b phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4163a655-0a1f-4b26-a339-70632d1ad83f phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7f6da858-df79-4d35-979d-4880ec58eb26 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6719dfb4-1695-45a3-800d-1b354d561d5e phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1777af19-dec8-4b8f-943b-bfdcb0756a97 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4bff8838-8d84-45d4-babe-b414447b4de1 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e36048ee-b3f8-473b-8dec-cdc9813fbe3a phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d710bf5f-bf3a-47b1-b3ec-8d498d7f9f63 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e4d2178c-7f90-4607-bdf2-fbd8628d8909 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a9363a0e-8bbb-48ad-8f36-5e25c57245ec phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b9e73148-0b65-4ef3-90b4-0fb7add441ab phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0ee01924-4da2-49c8-ad9d-25853e4dbec6 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:801675a7-0de4-4759-9554-03971d93f2a0 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a0d8d7ea-5189-4931-8a0c-e32db8765bbe phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:eaae78f7-8c4c-47db-a207-cea851c4bcac phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0e66190e-cc9c-4329-ba76-d81b4203db16 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ee40d436-dc1e-494b-aaff-064df21cfd26 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:531ed176-2d06-4610-ab4b-ee123d895e83 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:36723e5b-ccd3-4c9a-ac03-b7ca0a1616b5 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:26fa4780-8b53-4357-acf0-6fa17b38883e phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:367fdcf3-5c65-41e7-bed5-3c8dffa764d6 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:476b16e5-c860-409f-8ff9-61dc09d79b53 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cdae5dc1-9a09-4d31-b4ea-b0604a5c144c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3bc4243b-4657-4d70-b0d9-b94a86608aae phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:771714b8-3f3a-49c0-b56a-2dd5a778dd16 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1823ccb2-36e8-494b-96b8-461f1201f656 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7a8d2dc0-683c-4f24-ab46-b24c1aa85f7b phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9d0e98bd-a14e-46c8-99b9-a814a271f6c2 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f8f9fc9e-05bd-4c78-9eda-76a40032c1ec phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8b656950-9394-4008-980e-91e0a7d99a20 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a08c5c09-5ccf-40ca-ac2f-5b5b13e1eeb6 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a14128d0-446f-494a-96d8-d5657f528a0d phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9d5e052a-7354-4422-a7cb-b49f5c8bcf2f phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:eb654f77-961d-42d6-81c2-c831e320f321 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:69bab216-ea1e-4a9c-a1bd-fce1a22a7b0c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:34aae412-e0d6-4b9d-b06a-046a516802f0 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4705ae96-b486-40eb-8fe4-92c75c20b856 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:aacf3e59-3059-4a20-b4d1-538486934830 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ee983fad-2f0a-4070-984b-5bd5a396829c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:298969b3-ede5-4799-9e07-d455be1b8ac0 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ebc5bcb0-ada0-4d58-96e6-78ecde7d064c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P13M infores:phenopacket-store PMID:37183190 uuid:f64295d7-c334-4e14-8b53-c25b5e76ca34 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:d8fa56b9-a6f2-4b27-921f-f7eb7e029446 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7d9383ff-e851-44f0-80e6-66b5a3b69ed4 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:3c696511-e8f9-43c6-8b82-2712bfeaa95e phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:dc4f2393-913e-4241-ab61-57dfbcca0d88 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:62db5f5b-aa81-4545-86c9-479edc17569d phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:03dd99b2-f9a7-455d-b48e-843cf78a9397 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:364ab690-363c-46dc-8089-36bfa47e04a6 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:65c84429-67c1-4ed6-976a-6a08cc51f4a1 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5fe29250-6e24-4320-841c-9c60687fa748 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5fd7acbc-71d9-499c-8352-571c177d89ae phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0cd7d871-2f69-408e-8608-fac39c0ea303 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dd20b82b-0b92-4adb-aaef-59eaab01acd3 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7f7c80a1-af99-4221-b6c5-1f8032062e26 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:35da3548-bf1d-42d3-9734-961258390212 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cee87533-39c5-439c-ac04-c8133c4c17de phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a3f71397-8e8e-4926-8914-7cad26ed8bec phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:039759e3-3572-4e23-b7b8-0fd5aaa94d21 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c2456e94-f430-4031-bc4b-01be5bc19188 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a8372cfa-c022-4359-9bc4-1fc1fc2c8171 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dcc77af8-645e-4949-817f-3697bb65ee93 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8e402fc7-41c6-4545-a590-7db35989b659 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6fbdb073-af31-4376-a11e-c2571f2a0ae5 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1d420b16-9350-4fd7-b04b-a0db4ddadc40 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:139b4dc0-e2a0-4a40-874f-055816b3a86c phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bb416718-0585-4080-8e5a-e65a78980d4f phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e8381da2-232d-4360-9caa-dca36b0c825e phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6396ddfe-e6d2-4184-ac6f-2ac995716ac1 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6f747c4b-71aa-4f0d-8bf9-9c9170aa9be2 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9526c4a5-035a-4bf2-850a-04bb038383fd phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:07dcc36e-444a-4b31-91fb-72531b66a0e9 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d335e171-45ed-4f80-8b89-e24b72034cc3 phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:df0cd070-5418-449d-9ddf-f9083c7a7a3e phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:17b4ed20-4ab6-4163-95ec-fc1b6af3cbfb phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:c03012fb-485e-492e-9329-e0bd9d94ca8d phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:94ad723d-c657-464d-a2bb-660008da5663 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:1986e352-c66f-420b-97f2-55d0311a613c phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:22961202-37a8-4404-bba6-232df6dba40e phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:71631ad3-5a1f-44d0-aa3e-49400d8009b4 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:f2f69362-0a68-47e1-9414-ead3198b43e7 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:007c42f1-7f48-400d-84f6-5274cb44210b phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:fee21c11-35be-43d0-aa8c-7a2a5ed017d5 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:b59f706c-c8e7-4897-a770-a879a9f5e09f phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:22946d26-e5df-4c16-9044-284471da1103 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:b1de296a-8742-4b01-b153-f4d3fc4ae246 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:6b9eae58-d803-4b79-b24c-ac48b89df40e phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:c36cb739-b50e-43be-a68e-bfd2e8b55e24 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:fb443fc2-774f-494d-a6f5-db2aebd97185 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:1cfbb872-65de-4b5b-a426-b974c8fa1eee phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:23e93649-3d7f-4ab5-a4fb-8616545b4304 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:f63c92bc-a452-41cc-9adc-af84a098457d phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:dfcafffd-63d2-4392-a346-9f0a05296fbd phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:6143128f-8e2c-4922-8dad-39626e8d8176 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:203dd059-2ed4-4a70-88d2-64125e19f0cd phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:5f8e2022-a67e-495b-9ee6-fb970b97113d phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:83d707d4-33c5-465a-8908-429c5c85f758 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:447f49bf-2d50-4865-93e4-2a7138b5592e phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26843181 uuid:6adec87a-b9a2-480f-9118-4083bd15c940 phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26843181 uuid:e22c4311-951d-4ef9-9bb1-c4cf41518b27 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:2394d9c4-2e01-4a62-900e-bc64aba230d6 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:75af785d-b035-4776-a526-8614acfd8b6c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:8839db7d-54e8-4280-a0c6-f88209f42a70 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:d720a52b-a217-4a14-abed-b41eb8646de8 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:54bd0775-4980-4591-95ef-c8e1718a1333 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:41d0e8ad-8112-4718-857d-2072d093488b phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c24ebe33-13d1-456b-9165-1a4f3d57d1bf phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9bc8ab34-049e-43c4-9b3c-1243658cfd32 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3d034203-dafa-4e17-bb22-f1846e48c5bf phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:810d7316-6001-4a32-961c-a5950ed57287 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:064b0caa-3a80-48e2-b7cf-2d2d111cad89 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e26df7cb-a837-4d66-89d5-816db2630e53 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6129349e-655b-4852-9fc2-3b6d8bcf55c5 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:53dcc488-c0d1-49f9-aa23-62f26e1f080e phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:978bb347-3f24-4775-b886-419f5b22578a phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bfa987ba-67c6-4878-bf87-e86c14caf51c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c18d0a4d-b91b-46bb-9e1f-2339c98e999c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9a57e780-6756-438d-9d0a-852b668191cc phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:01b077f4-55f9-491b-b465-999b59b1220f phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:84ef20f3-796c-4e11-a52d-4f5592dd3bae phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4807b682-30a2-4fd5-a484-089b1baef62f phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3e85c554-5689-4ed7-b939-81860d7669cb phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c8d49aca-3a8f-4130-b71b-3cce30355844 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:faf7fdab-e2e1-4e1d-89dd-2dafacfa46a4 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:06806950-e5d7-4a99-8e66-d7ed2ca45d53 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:384490e3-784d-48a5-9497-dac267c51b51 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6e6d5edd-3768-4084-a580-3996360f67c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:60e1c5d2-8e3a-400a-a6a7-254441b96556 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dab226a7-6901-4ac3-86dc-0c0b13764637 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:488de03d-8bed-44bf-a814-0c1dadbd8f49 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e1509613-e2c4-45cb-b7ed-b9336f42dc4d phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:578b9196-6ba2-4806-b144-721d99721cd6 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7e9e83ba-cb4e-40f7-96aa-e07f0433b9d7 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:40c5ac1f-ca48-4edb-b852-4b6b9be0af25 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4e170358-0f9f-4916-83d3-740634492644 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:72ed91af-c932-4b46-b8bc-98ad268437e0 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2b4a5b7c-d026-44da-9032-df2922b2c88c phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e24e16b3-53b7-4c4e-9951-500dd2699fd7 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:161ae56a-df4d-4530-985e-b0c2b7e7405a phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:41d5b7b2-0fba-4a9f-be6e-d62f02f90593 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f26dd601-cff2-49df-8a68-ac338fd54de3 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6cbbe943-6760-4ad2-a813-727a5a771df5 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8ae15320-7cb1-4e0f-a3b3-ddeb7a817460 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y3M infores:phenopacket-store PMID:37183190 uuid:afb9efb1-a8d3-4208-8eee-5f357c6da6d1 phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:4c811a84-2022-4e7e-a741-154ab4758de4 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7cc519e7-44aa-4720-97bd-5ce1ab957375 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:3498440a-aff6-4fe5-a7a1-d62cdbd075fa phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:51e52db8-8b94-4916-86c4-774bbb3e0e39 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:15e2a136-3d92-476f-9c5a-5ce9ded0f9f8 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4ea52d28-cab6-4d5c-b1db-59de7cd3420e phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:d473e10d-2061-441b-baa5-b736c895a692 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:cb301b34-6125-447c-bc50-fb4adcec4d2b phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:0553ba98-4ecf-43ec-bc91-8d19e0c688de phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7c9a14c3-733b-436f-9519-023a6684fb99 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:7bcb879e-ba77-458e-a44a-51fc1e3dc164 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e7f5bfa5-8351-4792-9e2d-a25fb740db5a phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:02639fd4-e02b-424a-a2c8-97151a8900ef phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c76cd602-cb3b-4758-a5c4-f8c20c765a02 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:10ee337e-e00f-4ee3-84c8-845c38e3273d phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:59b0e97a-b4ff-4f83-8e88-0dadd8e444d0 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e1d7c073-81f1-4396-9935-ac842004ce08 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c71aac0d-1617-4787-a95d-ab77d1b0b047 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5ca12bcb-598f-443f-a4b8-9bff74fd7c37 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:48f49c9f-42d2-4fab-970c-d4af23dfcc70 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:48e5da76-4a51-4ffd-bbf8-a637991f93e9 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6373e6b0-397b-496e-a018-649b9a000175 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b8cffe2e-8d6a-4ff6-84cc-a9b6867828c4 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0749102d-2872-4f63-8d06-57a212d4d583 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:651fb773-f5db-4dbb-80b9-b5306e9240b8 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d9000a83-b940-4c3c-b610-9b77606367c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ab759a9b-161c-4b31-ae3b-e46269b54268 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:00214bfa-da2d-4f81-9877-45b1aaf2dc4d phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2b46228a-5645-4c2a-9232-5fea1e2f7672 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f757ca3c-a26c-4634-9f0d-6a3e873edcf0 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e57c5d14-4ebb-47dc-8350-7ec47a034c94 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:406da8bf-b597-454a-ad3b-09371a19ed7d phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9decd1b5-ec93-4f18-93ad-edad060dd336 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d49f23af-205a-4d95-b77c-41dbe01182a6 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ff831cab-b011-4a8f-9c1b-c9aa515d02b4 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d734d8e5-6d41-4f5d-a624-fa80aaaf60fc phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:447f9f8a-9afc-471a-9523-4553775fc964 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:15983ff2-8f9e-432a-a27b-dee10cf1edaf phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c497c086-74cc-43d3-8329-94b68166a459 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:393b2616-b0f3-46ee-b314-e2a5f1fa4cf3 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ebbeca89-cf2e-4f11-bf82-12a3f1ed0346 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e2cf572b-9e11-4dd1-8cdc-176149230eef phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f9808d8c-fbd5-47f1-a9b3-c74cf6c4c4a4 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fb56394c-b44e-4924-bb98-cee654169aec phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f8f62e9b-0d26-4415-8d59-f4858215dc4c phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37183190 uuid:5c6e66fc-22cb-4536-93fe-e04c235c8954 phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:d2c87902-e315-4ec9-8173-2c8524e5a75e phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:6d58be8d-b4a6-4e46-80e8-b37ff127aae2 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:ba8a833a-7dee-4fca-b927-9635e59dcaa4 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:62eb1e26-435a-40df-af7e-a2f5c6b24d9c phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:19501895-6f34-43bf-bf15-60d5964ae60d phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:3ed9561d-8d1f-4bc7-b9ab-c1310354c7b9 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27439707 uuid:be1e64cf-0b6d-4ad0-887e-4d74189ff88c phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:2685bd4c-b7cc-4e4a-879b-6e7357988d2a phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:69b2894e-7c9e-4fbf-91b6-beacfc971a25 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:aaa61f90-e8a6-4671-8b7a-bf04c40aa03a phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c432f9ad-5a3c-4713-9a34-68b5e42c016b phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:cec25099-196d-44d9-b761-03f081ca68da phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:d462a4c8-3194-4f45-bc34-fa0b9ea05eba phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:716160e2-bdd4-4def-8bbb-435e13f9aad4 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:4e0a4ebb-4f76-4394-a455-461b976580e5 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:c0733da1-c1d8-4ae5-bd49-b87c6020175c phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:cba824a6-a101-4c77-ab04-ced7c76673fa phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:e5fc2d6f-9044-4fc1-b14d-457a378285dd phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27439707 uuid:aa30c7e0-fc7d-45f5-933b-35718a2e5e30 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:27439707 uuid:46792d0a-1ae0-4df8-a568-59ff8b83dc39 phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27439707 uuid:6c6bb9f2-f511-4ef9-b8bf-c8f92a3d15ab phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34641913 uuid:c7bd3a82-a09b-4467-8b1c-70d62ca65342 phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:34641913 uuid:0ac3b70e-fd1f-4032-a3a3-95e4035d031a phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34641913 uuid:391c9fae-22ee-45e0-9fcf-a5b822565cd3 phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34641913 uuid:2c1374b9-ddb2-4f1f-90f1-e6a19419eb1e phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:34641913 uuid:cc12efdc-e896-400e-8793-c63b96fc1292 phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34641913 uuid:ef5078ca-b08a-46ce-bb22-7f9e5059ec8d phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:d02acf03-fa8d-45b2-844d-26107199ac82 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f0914497-f30f-4cfd-8a4b-baea3118917f phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:972a11a6-20f1-4cbb-95b7-d49d730e9a2d phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:9b0c3c6c-a8f2-4792-89df-d76f6c085fdd phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:6f50ed0b-d741-4229-b688-badb38235c2a phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:20671de3-e35b-4d80-a846-4e3d967903b2 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8c916df8-6677-40dd-ac24-74aede3031a6 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:777d0a72-2950-427f-b0bc-26c6df520d83 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:91e6b353-13f4-4eb9-8bc5-fec58ed4f82a phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ea65f03b-9518-45e2-a14f-3bddec03df00 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:465953f4-dbd8-4568-8319-b8d4a1beb69d phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7000f2cf-e6d8-4525-800b-c7cfccf7571f phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c68590c3-b07f-46a9-a9fd-57a5e93283fd phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3e265657-49a0-48e0-890f-8d257455990c phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:72911a57-f508-4922-8c26-8bd7ad75c88a phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:85992f48-a98c-4513-b943-59f589858a73 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:13e8117e-fa96-40b7-a160-44449eeaad78 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e2f0122f-21a2-4f72-be6d-7cd16e535cf0 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:90237a09-dc86-41e1-9206-ceadcd9af492 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:90e4dbd8-6d76-422e-bba5-fc4da1a21003 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8ba54fad-9634-487a-b0d0-d51813c2e3d6 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bc845831-326c-415e-80f2-9e5fb7b91621 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1954da6b-4f2b-414f-b71d-258e9b571a39 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:124834d3-56aa-4c6b-bc03-fe7502112b7a phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:92e639fb-6c1d-4f8a-99c1-05def77178f9 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e7f11b68-aebb-493c-8fd8-d4b68f796b26 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2e8ab6a3-f06e-4411-beb3-a6e2ba02c2df phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3900187f-a948-4278-9d87-75a3c17aea14 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ff41787b-2fcd-4c67-998a-e54105878227 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7f1ad6d6-a03a-49ec-8d6f-328f3e73549a phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9591a6f4-518c-408e-8f44-8c55fefc3ab8 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:59d2afac-b73b-4ad7-843f-640e2585703a phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b5bdb61d-4000-4474-9055-37512d3ab2bb phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:84b1b33c-5fc5-4efc-9d9c-c601f77411c3 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ab9e4916-785c-4eff-8740-c23c7519cc2b phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5da8b690-d5aa-4b35-b70e-5304ce6a04ae phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e25fd8b4-c455-47c4-a073-6ffc56152204 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3594c232-d29e-451c-a6bf-ddfd3aa67729 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2c913bc6-7627-428d-bf86-0d794e9cbd23 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8c161cef-d229-4e77-8dd7-f7fefbc16e35 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ba651261-213f-41ce-83db-8fdd4840679f phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1d55ce8e-097f-4a9f-adb3-0459fa14c20d phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:002db981-dc16-4f85-a3f0-24f2d4aedb3d phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y9M infores:phenopacket-store PMID:37183190 uuid:9aa03512-a0d0-4427-a1e0-1489823f4e32 phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:56a97d75-da52-4daf-ab87-20e1247e5c5e phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:814a3ab5-30ea-4692-998e-457c0694f5e1 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:79a1ffed-cc42-4e63-80bf-6b170f7222ca phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:2cc81962-1977-4aa8-ada6-22cc2110413e phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:c9f21e65-bcf4-41be-a90b-0d41b5d5ae62 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:da3f4a2d-bec6-446c-8821-0aecd4049f0a phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:f90abc05-2feb-4cd1-a322-937dc496153e phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5668b8d5-dac9-4971-a6f8-41b892d4c7dc phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3c5b03f7-b07c-4952-9528-5f4f285da69b phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:e96725a3-2ebc-4bd8-9d50-32021fc4e32a phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:30a74aa1-80f1-4a93-bdd5-750e97131399 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:011ca461-1e52-4c0d-b3d2-33b3685fb5c5 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3df8d61c-6f49-473f-82b5-ec591700082c phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b18cd505-daaa-4cc2-a9ad-853aa9ef6b03 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f88e2d19-4564-455c-b71e-361e85558406 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:66bf023f-0904-4b5a-b938-21f3939f9e32 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5bdc7a80-1222-43f0-b907-fa70a97571ee phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c2292d81-7de7-4aae-9d8d-afbeb680239d phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6fcd4994-7ef6-4072-8b5e-03e55683588e phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7fde4b56-3f8b-4f99-94c8-e648d0727665 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:15bda8b9-cdbf-4011-9bf2-6ee2a8ce5a79 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:37b62ceb-9750-449e-a03d-067e54062133 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:23e292c5-0f31-43af-86ac-a9af1d4c1b13 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:eb44f79b-1c9f-4ac1-8a23-e65301b552c3 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:efc55a21-454e-4b86-9ab0-e160ae542e80 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fb1647ee-9b7c-4f07-9535-d32e5f28bc5b phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:409b6fb8-4a93-4860-9793-c04b2d4e807d phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5766facf-7e03-4c6b-bf3d-deb64104ebf3 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3d7b6f7a-7a1f-42c8-9a52-f8cd2e83cb95 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:47f6ba36-f287-4448-ae9b-1c4a2c95f65e phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b5d4a578-1563-4f47-b973-601c7a3e5c16 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c9ab7b73-a7cb-4800-af3e-91b1ec503666 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:3750ccd4-da58-45f3-bcb9-9454cc92dc89 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ac04f7d0-a203-433a-9ab5-c987033c82c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:24fb1a9c-f301-4520-bd1b-b6ac72ac03a2 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:437afb72-2dae-4bea-80db-75d14c2e8bb3 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:89025da3-bb1c-4b72-8796-eea9749efc78 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d5b682aa-fbc6-4290-b422-1da87c4498f7 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:057c61af-03fb-4290-b411-86c88654b63c phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:37183190 uuid:a0856fa5-b044-45c9-abf5-25024ade19f4 phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:930b21ba-8365-4bf6-90f8-a2c353dadb0b phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:17646849 uuid:c30f91a9-1415-4ffe-8869-577174846df4 phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646849 uuid:e28f83d1-d694-4c95-a3c8-785d96286228 phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646849 uuid:c2c783d6-7291-4dcc-899e-abb3c1fc655f phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646849 uuid:c163ff19-3f1f-4a63-8cec-6dd4b16be43d phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646849 uuid:fa76b584-9c57-4d88-a199-371c588e7584 phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:17646849 uuid:98f7855c-bdf8-459e-93a9-5a1831a700a7 phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17646849 uuid:89458ecc-ba82-4471-9492-6b42bbf2160e phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:a103feeb-347a-4b16-b25a-fa22addfc4d3 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:30f15980-92ad-4952-aa39-e9cffac20469 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:6f6bb148-c7b3-47e1-8b8a-00e7f0fea582 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:87c93e5b-0171-4218-9d14-7695d9e8552f phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:143fb0fc-fd1d-40ee-82d0-c8c1b1802911 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:a42e3f07-a717-41b2-b5ab-b232d524768b phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:4d49416c-9319-4ad9-8d12-e0444ebe3fe0 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c59fafaa-8500-48b4-8d3b-ef450ce293d9 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:56025ec3-71b7-46ff-b27d-ef39606e9574 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2d314e81-9472-4327-aeb7-88376b29d785 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:9af97f50-215c-49a1-ab69-76d1f0498568 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:27d341c2-f92d-4411-88d6-bd0b15921315 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:90100d00-3732-46a0-b603-fc547a92441b phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:b49afdc3-a8dc-4527-a677-ed2b76190d41 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:65b87e78-0c0d-474e-bde0-216a8e563c32 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:a4874049-7472-441b-a934-42a9d469877c phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:53320ade-1756-4e9e-8acc-7d6f1261cb28 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:b1119568-42bc-43b5-b0a2-432ebd3502b2 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:ff8db8b1-5c9c-4ecb-a73c-46623bff8df9 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:04f41a3f-3394-4b67-85a8-302295fdc2c4 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:8c06ee5e-fafa-424e-a3d2-debe57eed093 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c8f7104f-a6b3-4375-8a19-c835d9e57342 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:db80c184-d6c2-476d-b5a9-9f1e1fa64923 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:e7a34c7f-64e5-45bc-b050-1c66c181b98e phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:664bbf66-cc8f-4995-a40f-df12430aa730 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2b472eb6-ca57-4416-aabb-6cedc648cf7d phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:5bcdfafc-040a-4152-8d85-463422dd6c62 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:21859e85-c396-4295-a93a-7950bcf4419f phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:598f93f8-ed2f-4622-8d8f-247dfdfa2b60 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:f5db9582-6788-4a37-be3f-51a354c83b0c phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:41a13eee-3f9c-40ff-bba9-d15378451bdc phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:aea1f63a-ecd4-4caf-bbe4-4d9316b5e449 phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:214fb7d5-c06b-4f4b-907c-296be7ee6c9e phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:7fd232bf-37ec-495c-8167-447270059e50 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:2f67c8ee-68d2-4aa1-bdde-5591cd48527d phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:0a82b5b9-addb-4038-915f-5030d0dced6c phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:877b1ad4-c0fa-4d54-8409-5d62e3af71df phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:103525a1-f775-4cd5-9f6b-c7f327048582 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:37f19b40-2cd3-4f9c-afe6-78d27465ee73 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:79553b9f-6938-47f2-848d-1ddd6d29da7b phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26843181 uuid:b11d02fa-832e-4cdf-a1f9-5c0cc9e47ce9 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:0237ade5-660a-479e-ac5b-602e4e6c720e phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:d776d7a6-f3ed-4406-a19c-173c52aff713 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:3a826dba-cd55-42ed-bc4e-0f9acfc9291b phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:01c863d8-db3e-4f67-b96e-d2171ada78c7 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:5b4083a9-eb20-400e-8bd0-721a7cff5e56 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:4c522f88-5f09-45ee-90d0-11ad5fb51f9c phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:36b080d7-c991-48c3-8784-2a3f2fcc7a24 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:cf52b2f7-70c4-4b47-87fe-5888cac21189 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:687c794f-19a8-49d3-81d3-819e24d4dc59 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:02279e4a-35e1-4f1b-932b-484ef02bf4b3 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:e0efd6ca-0d6d-44ba-9d27-62b952d63fb4 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:1d96e410-5d9f-4d0a-ba2b-2eb386abb43f phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26843181 uuid:1010c382-98ff-48b6-8cdc-cdc2c6b50cfc phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:26843181 uuid:44e86bdc-f2bd-40bf-a092-16b57316e1e4 phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26843181 uuid:d7af530c-2bdb-4898-9724-4d9755e9b8ce phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:eb3b7d87-9a7e-4d8d-af0a-7be6d95fd946 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:ed3d2b5f-6f8e-4432-ad59-e842ff6b36c3 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:22c65c62-307a-49cf-b882-13df64a8a0be phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:47518303-8dce-4e23-aecd-f43993fd504b phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:4cc20b3e-9eca-4ca5-9484-41d036dff343 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:ffb346d2-6d60-428b-a7ec-8cd49156bee4 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:6da6280d-0bd9-4d3e-96d8-3ca236d2d739 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bb077d42-ea64-4b9c-b0b4-996bc937156d phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5006be71-b460-481d-a0fb-165c6c697f1a phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:55bec331-a008-4480-9184-57f533f91237 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f012d15c-8eee-41ba-8d3c-a06ac048df18 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:549b91ab-363f-4bc9-a7c1-b2fb147dd453 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:34a67626-385f-47ee-ad27-2ae01586df85 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:ee64c238-a302-4aae-acb2-82805665ee87 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7723f8c5-cfce-4991-948a-46b6538c8f3b phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6193f477-995d-4ad5-aacb-df3b66570a50 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fb7435a5-93db-43a0-96c1-27115418f6b2 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b7420db2-7e81-4531-934c-1e91174f5306 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:dd12cbdb-f7d2-47a1-9ceb-ee869140cc53 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cf144d3e-3325-4c22-95c3-b2be4f4159cc phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a54beb8d-a288-4d35-a8f0-9a8f20df82a7 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2cab11e1-039f-4128-bd36-bf82baf5ab2d phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8d1d5d67-0425-4d9c-80d1-b49a181d90cd phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4638c97a-d73d-499c-a220-7bc8084dcaae phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6e6a4a36-7c0d-4b2e-bf8d-825a9ce93216 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:f7d06f10-438b-416d-93ae-6b6bcc74c4e4 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1a8db4dd-e283-40f5-bf58-e74d793c5eb2 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:890cbc50-90c6-48aa-8905-4cf74acb1b00 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:9628ef94-2927-40cd-b760-05587aebc2a5 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:105ee0f6-20d4-4b8e-aabd-4f4b01ab4865 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4913d277-2768-41da-a734-28d3d8a7a8e3 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:5e7be3c5-6776-4fd0-8541-6a8a616ed596 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:bc67044c-c3f0-402b-92f1-ec0b18299f26 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:03b3b4b0-1591-4f59-b79a-47ee4b266679 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8d3a49c4-3bbe-4d88-877b-ef9bd42ef66c phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6b2221ab-15ec-4d15-9858-d6140d0cb8de phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:14026a14-8dc1-49c8-ad2c-4b2e5d9f1ff2 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:fca089b9-a721-4a01-8bb5-ac8bb46fca64 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:84d7abaf-7ed1-4107-9b3b-a0cc32468028 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2a38e3a5-d4ec-4c35-a41c-af3c792c113e phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:6bde7445-19b9-43d2-a50e-a7e9276b12c2 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:37183190 uuid:86422fff-9eb4-40b5-8179-92c017259698 phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:d8b58ee3-4d5c-4409-956c-4e740fe15388 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34778490 uuid:ea4a45ba-b241-4c8f-87d3-a7d9894ab443 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:8b05844f-b7a9-4628-b7e1-42ce82615213 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:25bc3eb3-d2d9-4eb5-a245-2e81d78da480 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:869f61d2-3301-446d-852f-0010326a85c9 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:5abcb6e9-e280-43bb-943f-4da26c135806 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:30ce6fa2-14fc-47f2-a65c-0ad85be2df73 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:ac1550c9-92fe-41af-a37f-8b62d5741f7d phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:66aea734-e152-4a6c-b24d-5c56869faba5 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:34469f91-9bff-4e50-90db-9dabc81e26bd phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:40fc5e10-6334-4ee5-9b8b-8eea2194bd40 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34778490 uuid:de34606d-9586-4abd-82b1-b42557653675 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:dd0dd1fe-5fcf-4488-817a-65272f5b899d phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:c09982dc-6d71-4973-874e-25a63395557d phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:ef77ead4-24f0-434f-bbcc-48105fd343bc phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:ccd5060c-f1ad-49b6-bae8-39e3f840b551 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:9b48225d-be9e-477b-b1d2-66203ad6f763 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0032661 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:a9ccd513-681c-47ca-9b74-904bbcf194be phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:ab2bc9e3-1e6e-4d30-ba47-78205df79f01 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:377c4029-bbb6-4e6d-a91b-1826a5b2a2a9 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:a78577d3-c050-4aac-be1f-86ecb3f710d8 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:1ac61c16-5afe-4bb4-9de9-99e1ed72f4ba phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:da8173c3-25a1-4c56-8f79-ada886f5a05a phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:a0a87524-02e1-445c-b7cc-e3edaf4374c1 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:b168fd26-4fee-4aad-b33e-4deaa2069824 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:2ccb0bd2-aa15-4eda-94b4-df5bec4c1d71 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34778490 uuid:53caa320-9603-413d-a467-c321407b6cb9 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34778490 uuid:3b4d7f4e-6153-4856-853a-1de7e06ac2e5 phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34778490 uuid:9efc556a-62c8-465b-9847-b9b095a72814 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:6059bd46-e5c3-4723-b4b7-a27c79648c51 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:fa8dd34d-fba8-46f3-9af8-dcf80bf32881 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:0ac4bce3-05b2-48f3-a1a4-789d529d6ff4 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:1ed14e98-0439-4f1e-9c79-8451f2821613 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:0b5e333b-c761-478d-8f33-ebabdd5759de phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:0852c413-6b68-404b-84d8-d002867ad7c8 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:e4605832-9ace-482e-bdae-dd50bdce43e9 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:98002cff-fe0f-45fe-ac0a-15b359a11700 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:dd7d109e-1d3d-49cc-b97b-f292fa3b147c phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:1a501f1e-2cfe-48a7-8e98-001e84752f8e phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:2219de37-899b-4334-895a-99cf192e17d3 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:a5eb2a41-db37-4bd0-bfc1-4179a96bbc71 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:9ecd1ff7-ab69-4f94-8d8a-e20e91861ad6 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:adf2a1a1-0688-4ef4-869a-1238e433a0a7 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:99045c44-f52d-4493-b59a-73e02c7ed1d3 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:95d724a9-b848-4a27-b25a-b21420032637 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:785e708c-b7f8-416c-837b-fce7f84e3d3d phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:08d044a6-c05b-456f-981b-4d8c8fcffd59 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:22e2491f-9f54-4dd7-b625-e8415663777a phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:8627fde8-3a77-4aec-b957-24d74a23804b phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:10a7f0c5-d475-4654-9548-0683eaac08d5 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:aaf29d73-b102-4aa6-988a-f138a99d6860 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:cbf93f46-8cf4-43ec-b439-e20a704b49fc phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:320a6b51-c0e5-4cbf-85fc-9e1fe9466661 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:32043a3d-2c70-41bd-9490-e9192082f028 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:03f8639f-3e54-443a-99f5-59d762a0678c phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:c9bf2e65-66e9-4567-b568-1820ad6789ba phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:cba51548-fc1b-4d66-abec-32dd46475e86 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:6bd20872-27ea-4afc-8141-067b2c26cd2e phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:c0ab979e-ea82-429f-b9e4-7020ba8f774b phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:40af3df0-edfd-4f40-8e3f-1f2378a9ca19 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:6f37b5b1-a83c-471d-a003-03b0515f4054 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:4ed7f935-c658-4d52-b850-73226e12b39d phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:f595174b-34b3-4986-901c-9ef429c9a99b phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P18M infores:phenopacket-store PMID:25045150 uuid:fa031ae5-4214-4271-8b47-d24e60647e72 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25045150 uuid:94fbdcf3-1499-4d83-9e39-9a2cb79264b1 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:bbd2c407-4b38-4e37-b14d-35ffe922e211 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:63db656f-b8e8-4db0-b788-ee2156e60c3c phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:cb3f9376-8130-4b2e-b0cf-8942e96b1d57 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:2118eda9-8c11-49be-8323-50882f6dee24 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:636a3eba-d254-4424-8918-de7298f6c488 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:06e09dab-d834-43f3-819c-d8052fec9db5 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:5c055fd8-df5c-4890-8e38-56930371d304 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:2b323908-4383-4de3-acf0-0b969b167ebe phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37183190 uuid:377045de-0436-4f88-8090-988d93457baf phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d19c3426-30c3-4682-8184-d65ef863ca5d phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:99c97768-16d6-4eba-be5b-7bdfb66e9f03 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:29666664-0d68-4b9e-82bb-5e17932c3da6 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:377208ba-c30a-499d-8f81-8f7c98398a6e phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c4f736b9-dc23-4436-9caa-bcccbd00dc1d phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:60e20d85-3173-4b6a-b357-97ae9f44d5f4 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:17073b6c-9ee2-4d22-aaaf-856e38375f52 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2337e236-ff87-4404-ae27-4c5343bc9364 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:81f018c3-53d1-4e44-b2dc-2e2550db9330 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:7a06ae54-cbca-4b1a-a5e7-222c8c7ee61d phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:95d47ef6-bb8c-45f7-8d3d-1ee56cc5e2cc phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:0f5cbe71-676e-4269-93c6-ca357e987194 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1a3ae55d-9ee5-4ffb-9576-64736481a3d4 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2fd5ad6c-f561-4677-b31b-3246436107fc phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:2f5d5a6b-5fea-4cc6-81f3-2812132e30c1 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:55067e7e-eaf2-42f7-be87-0f437abf163b phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:127d7866-d587-4fb2-aff4-b1473d57d858 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:1a6ec487-03cc-48f8-977b-5839128d6cd7 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:733e4928-935b-430d-afa4-f523f65d4ab5 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:a75ab447-a166-47af-969d-551e0c2ab003 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:460ec512-76b4-4aff-9fbc-23f52ace7984 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:8c74bbbe-d2a9-4e9d-8c75-42aa3b110581 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:d4ef904d-94e2-497a-9a3e-6358c15e5b63 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:775f9786-7d3f-4ece-b900-f37422ce70e2 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b53f80cf-e91b-4fd8-80fe-4d9a8f9253fa phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:75b918f1-9cb2-45c5-806f-897d8a30dc3a phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:cc479b85-40fe-4c8a-9fac-9ff2b17988ad phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:02df8c05-b4ba-4069-9ae4-d665a7f5baca phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:60b9f694-cd2e-40c2-9844-8467d2ec9805 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c2505752-376e-4f5e-bfb2-039627148eea phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:c5dbfb26-159c-4f88-86b5-ec2b950dc899 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:b50198e7-6982-4cdf-bcc4-346872740e19 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:00f317eb-c24d-4c53-9a25-e3459a3090f5 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37183190 uuid:4b1e47e2-da9e-4783-ad19-c20c873344d8 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37183190 uuid:88243fe5-e369-4433-9234-9fc60205d9f1 phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37183190 uuid:df3d974d-da1d-4d6c-941d-52de8c9421bd phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:a8e49884-a15b-4efa-96dc-23b2b09dd451 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:89dc36c8-0a9a-4c7f-b75f-14f473e95008 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:343ae798-f2cd-44ea-976b-1604d748f9c6 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:978f358c-5cee-42a4-901c-18951ca302a5 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:0e2e8abb-6ad4-48b2-9e12-a68a8877539c phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:0219a7a4-c641-43b7-b55d-e388da7bbfda phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25045150 uuid:8c0fb95c-581e-46bd-a9a1-1af6779485a5 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:f7eb8df4-dc0f-49a4-8756-e459f3e143ad phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:7f04e9b0-c203-42fa-ac9d-0adbe2dcdc5a phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:eb654c72-ef1a-4b41-96b5-c05329c60916 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:9e1d1584-cc9f-4845-88bf-bb98fb6653fc phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:322993a1-9fe0-41f9-a7ac-a401de860a9a phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:dda46c6d-e1cd-43ff-9680-77a102f1a354 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:ab91444c-a9d0-4e5c-a9b3-940ce6f3eccf phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:b5d93915-55c9-4c2e-a28b-edec04e9c4f4 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:2f1b7079-a8cc-4fbe-b043-6ea209f229bd phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:adefd6c8-75fb-415d-83d3-0f948b83efbb phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:666ac6df-abb3-447f-868e-5b3677182799 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:b0afd738-cf42-45fb-84bf-e08d24c5ef37 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:7299b3bc-9cb2-4c9a-aac1-2177828e9e01 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:24196d14-1486-4e35-9547-c82112e249a9 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:a9e8f939-f670-4f70-acf7-bc82bb9e5c04 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:a746d8dd-84b3-4cde-b45e-fac89faaa477 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:e7919129-865d-4374-a4ad-a4cba21c5f92 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:ce1358a2-20c3-4574-8f5d-cfb493d4e98d phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:36693f91-d200-4a8d-91d7-b060d3d2bbf3 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:f54b0f96-c73e-4589-b70a-ff6834f86fd6 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:8e9b2b34-5b7a-4ffd-8c7a-4e4e5958073e phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:f03f9ef4-60d8-4412-ba77-73bddf72cf61 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:6b99d003-a81c-4501-99c4-8201f85858c9 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:fd353683-1eb4-4559-8881-cdcf32306c59 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:e6792145-10d9-403c-acc0-e908132e0fe5 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:a9573435-2daf-4dee-8f56-795242cdf390 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:bfa45758-f07d-44ec-b861-231f16f609a1 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:d9927952-63fe-42fb-af53-a59928e44fcd phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25045150 uuid:d56c2ef2-c0d2-41fb-b353-cd2eea5071fb phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25045150 uuid:2ec29081-8885-40d7-8bd0-0a1b6d6ad457 phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25045150 uuid:8499509f-a750-4a4a-b4bc-7756b3cc9485 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:9b7c570e-a597-4dbf-a0d8-2d4c313fd8b4 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:fd2aab95-42e6-4a50-a93d-fb2479bad7de phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:0d7b4e93-5837-459b-8f2a-da66c313bd43 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:05b5f6e2-2105-4411-a8ae-bc84fc56259c phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:e45de03a-bb01-44e6-921a-ef69f66666d3 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35911904 uuid:c964d1c1-859f-4f0f-9240-233fc04d8528 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:156ac995-ef63-442a-8b22-baaebf46d7fd phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:04cc7192-2421-4218-8df5-b6f71094c1c0 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:0b8c357f-969c-434f-821f-63eb254049cb phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0032752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:a6cf400d-c625-4bc5-9810-5aba68abcf67 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2780932e-1734-4b19-84da-f67cfccba01a phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0030746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:26f071b8-3f5b-459d-8c44-734b8027df8b phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:8cf0db45-ef70-472d-924f-04e073e2e1d4 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:b96cae79-3e70-4da8-a1b9-e63c0feb7ac5 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:0b2d8a1a-3c34-410e-aa7d-e706437d1ec5 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:b4b18d70-afb2-4797-9c77-0ebbbee3cf8d phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2dacffa4-8872-4390-a53b-a3a7a1519e43 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:d5fbee3f-de0a-485e-9c0f-3bd03c87c1c1 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c8470e75-75f9-4f57-a572-f65bbe9ac0f5 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:2de178a7-e30b-4d64-b7d8-3c02cc1bbf9a phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:699de009-0cb7-4454-99c4-d6d4cdfe64cb phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:57c96e1a-8abc-46ac-8778-124c1c339283 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:7b9d66b6-e42d-4ee6-b358-ae3146b36b28 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:0d0e1f5f-9c5c-4d29-bfda-079abe2bbb2d phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:4e49ccd3-f8fd-4ae0-a6b5-cb32a75026aa phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:bbf22395-137f-428e-8f7d-9bed7f1cedb7 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:30be9ca1-eec3-41dc-903a-71396061646f phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:c8486c0f-1f77-47db-875e-e0e6cbb34fe3 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:5b9bc3d7-c62d-4f27-ad8d-e714f1c78372 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:1afc03d4-1e7c-4970-ab62-1ebea3e460bc phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:271a23c8-7e2e-4edb-ad7b-b1d3eb945a24 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:1d1a14e3-3d3d-4e5e-8015-c799a2562481 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:f507472d-1cc5-4dd4-ace1-992c9d14724f phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:65eb3f10-2747-410c-a38c-e24ca5b8529c phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:8c863700-08ff-4917-8a36-70abc87e153a phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:bf853dd6-1d9d-4f60-847a-d410b19d257c phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:d0bcd4c0-2085-4db1-af1d-ffd7561767c5 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:d58e53d5-eac6-4f23-9def-601d17aca93b phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35911904 uuid:b9109c8d-78b8-482a-b16d-1b687d305564 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:a235bd52-946c-44e1-9b7f-f6c5c3f5d1d1 phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35911904 uuid:deff329b-32c3-4575-99c2-34e65d1e9f2f phenopacket.store:CNTNAP2.PMID_34737720_Patient biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:34737720 uuid:0d999fdf-35bf-42d8-87df-dfe384533b11 phenopacket.store:CNTNAP2.PMID_34737720_Patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34737720 uuid:86032138-b0bf-40a7-ae9c-ffe181b51ab6 phenopacket.store:CNTNAP2.PMID_34737720_Patient biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:34737720 uuid:084fbe07-95b0-41d7-8fbe-c7822b5870e7 phenopacket.store:CNTNAP2.PMID_34737720_Patient biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34737720 uuid:62d0900a-c13b-47df-a613-24bef951ce25 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27066544 uuid:ace1167d-ca44-48fa-80b2-65abb71d4828 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:9b3ae5c2-3e57-4a35-a2a6-cdc6cb4136a8 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:177db032-d783-41e6-bb1c-bf8acc235713 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:a27384ee-4699-407e-99ac-e38d9c2b0d90 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27066544 uuid:c7c30279-7c78-45a6-b85e-231884185e37 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:27066544 uuid:249c3651-1305-4d92-9663-d836e54235c2 phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27066544 uuid:388188c5-0ec1-420b-8c9a-7b1ea3ec5e47 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:b5d7e0e9-c3c7-4e09-85ee-e0d23820a376 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:1bfcd8f9-224a-4e36-95b3-90441c2d9bd5 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:33a3e0a7-cb63-4cd7-8b3d-e42c2c2ad3e0 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:25c2e72c-b5d0-4d3b-9d57-3517c0d29edd phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:1826d194-b5fd-487b-ba6c-9d4a4acfdea6 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:d4ec680c-140b-4c9d-98aa-3337fa845633 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19302947 uuid:1795d34c-323b-4b3f-9ad7-13971da5f5e4 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:16c1f6bd-fe6d-4b4b-98a4-4fe5bf764786 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:6f87e2d2-aa94-4bde-81aa-7585fbaef98e phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:28e7e858-bd04-4aef-99ac-bfa8a9c4523b phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:2e248de6-733b-4945-a1a1-9f9cd4f38395 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:478397c4-e729-4ab4-a7a7-b9e2bd0aa43d phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:b291469c-09d8-4ba0-a3f2-9d242f1f5f82 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:4859a872-6ba4-4713-a9b0-37bca4be75de phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:15ed6372-0323-4dc2-99ae-7802c2498078 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:e0670f76-b213-43b7-aae7-ab49ecb834b9 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:46f25d68-83d7-4da5-a5c5-eac43afe3564 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:7f04d003-0f54-4c51-aa6e-afc5e884b7b0 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:34557491-9b5c-4344-bdc5-d09dce9f491e phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:8cd35dfe-24c3-48ea-ac0a-2e57cffd0863 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:6425d6a4-bae3-4d46-a9e9-d6b97a21036b phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:b01ce393-67fd-4c28-9cc5-8de88ea8391c phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:55363962-615c-451e-80dc-f8711988aa1d phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:b7f4b456-239f-43e8-aa54-4393907a6b8a phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:adf1ad59-b664-4975-adfe-075e7823d5ae phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:31368675-423e-4a1f-96cd-b7db8e9f4152 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:30076ad0-7e63-4a27-a8bc-4102ec54439a phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:4fb1b66b-ff13-4e94-b01f-8bb0a85c55ce phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:bd4f8ed3-6123-476d-9f0b-94250b5e972f phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:f08d1ae3-d1f4-4dd8-8e07-7343ed7a8ae1 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:18784d5e-94eb-4cdf-a78a-aeb6983f4075 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:ec4f81ea-7d34-473d-b675-ff0d87c7d361 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:f99e3e0d-91b6-4977-bb44-462c56ec35fe phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:61679bf9-6e4d-4f88-8ddf-fbae05a2b67f phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19302947 uuid:853dab18-e8b2-456d-8ec9-1c6dd24e17e5 phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_disease OMIM:610042 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19302947 uuid:b0465bb0-90b9-44f3-912b-645b73ed2c3f phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:has_gene HGNC:13830 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19302947 uuid:a83beda7-239f-414f-9cf1-03ceab9a4fe9 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37711075 uuid:179c063c-41d1-4406-a3ca-815fb10d6860 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:eb080120-d779-4536-8265-1bd34e125b11 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:031ccf9d-d30d-4417-b538-e36ecded6df8 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:a55cdb16-1106-42f7-8825-e7daca361a7b phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:7f70899f-94f9-4eb2-a5ad-5abdd3769297 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:b020cd0b-dfb8-47ee-9ed9-5e16679d987a phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:50ad53d3-b938-4d39-9bc9-33c696d2645d phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:f30189e0-17ca-4072-b9db-c95db057c02c phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:8db3acfc-db73-45e0-91b6-fb3b6cdc7082 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:665039db-38b5-4fcf-8367-923b9a64203b phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:74e64abd-ad39-42ad-beea-267d9e9a1d9a phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:e128f736-2317-4afe-a62b-6d2e3e69953a phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:95e58a8a-8787-4b58-8cf6-f999974ca034 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:0bdec6cd-aebc-497e-b5cc-c00f53f02761 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:413ab0cb-2d80-4189-a754-a78236206667 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:8802a9ce-f54a-47ba-b624-848601dc112b phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:97a42418-bc8c-483e-bb24-8dc64aea01ed phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:184a9545-8aa2-4b09-a4f9-f7580bf6dc0b phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:5390a63e-1219-4d31-8075-606fd170bd84 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:346bac6e-f8a1-4662-823a-de06f4346ddb phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_disease OMIM:620546 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37711075 uuid:314ab754-a48d-4712-86f5-ac31bc91f310 phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:has_gene HGNC:18619 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37711075 uuid:b8aed51c-ccc6-4118-9c7b-762c48940761 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:d188ae82-29d1-41de-b874-800330f4e086 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:9e9a197b-c478-4dc0-98e9-6b09bf1a51ed phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:4de8cc21-186a-4aba-975a-cf0186ab4b23 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:19bd9032-3334-4cb7-a512-85943d05a8f2 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:2f216685-c559-42f4-8f85-8f3df3a6bbfc phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:a8a74a25-7aa2-4c25-991a-7f32aa007f75 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:ed49b662-d781-49ec-b8ea-33babcf0b00c phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37711075 uuid:839d718f-997d-4500-b65e-d8b23af83a59 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37711075 uuid:c4b8d5b4-dec3-4c5a-b982-4371350352a7 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:743d3529-4e81-4be8-87b5-9e7041698c18 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:4e1c89da-c04c-4f81-9927-01982eff9e92 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:e91b43d3-9bc1-42fa-a6ee-32ad8ae6432b phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:7a73a2d1-cd81-4f25-89cf-5a3067da8cf7 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:f3ae198d-9bd6-4a31-a1df-f8ee1dfaefb9 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:5d6dfbf0-56ce-408e-a820-b92a6161ab90 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:d16705cb-02f9-48a1-860c-2e7ef14c9151 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:61e2ee32-155e-4b9c-a813-09d488bcae87 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:2380f8e7-69c4-49b3-963a-5e8a84efa5a9 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:cc0c693b-2703-4b1f-8992-c903fd1ad3ba phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:bb976c20-f037-4cba-a6fc-ecb89aaef85c phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:15809c3b-cc11-4f34-86af-411bb78f9cb9 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:453ea51a-df03-4d6e-8fba-40ba82aaa31b phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:3987e28b-e970-47ec-b3e8-ec90c58f97bd phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:487836ef-a332-4238-a284-44960ecf2a1d phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:3b694999-c3f4-469c-9812-d095fb78f952 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:c5e0c048-925b-4d6b-8389-d4d732d62fa3 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_disease OMIM:620546 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:37711075 uuid:faa0e34f-408d-4443-8793-6558634f0af8 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:has_gene HGNC:18619 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37711075 uuid:2b6ff1e8-c712-4168-879f-aa20a7ecd51f phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37711075 uuid:d4ddb3b7-a7b6-469a-9cda-24673472c59e phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:3e155240-5de6-4f04-9731-2ef63bb7a710 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:c24f2c08-105d-4b47-84a6-0118ba4ff6e3 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:bb351b8f-1000-446f-8a1e-ff79fb413de0 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:a157952a-9255-4ffd-9494-3e13b36719f1 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:70cb14d4-9526-4340-b514-993eac66155c phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:fbce3d1b-909c-49dc-bec9-e0530a521a95 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:d6b034de-ee0c-4b19-b13c-3f0630a8a5f8 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:245744a3-afac-42d5-b07c-5fa28b585fc6 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:930cd6a9-1db9-4604-8885-b451367219d9 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:7bc06433-b0aa-416b-9379-4057bfa54e73 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:59b01e0a-d418-4506-9c4c-de456422099d phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:94e2179c-3ed7-4520-a7bf-c2f3820ac64a phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:9492b97a-5133-426a-9687-bf5c23356b23 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:8d75dcb8-241e-44e2-bf22-9b85c1839503 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_disease OMIM:620546 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37711075 uuid:98b19867-2507-4e60-8e23-0d93333f7fa6 phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:has_gene HGNC:18619 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37711075 uuid:50f8b9f0-cac7-4b58-933a-e8af7a98a226 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:37711075 uuid:f675ebf4-a4d8-49b2-8442-c02bb09e3061 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:37711075 uuid:64b88c72-9321-479e-a703-bab14c864fa2 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37711075 uuid:fcafb9b6-bcfd-4d58-9d07-5bc4d2c795a4 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37711075 uuid:0350f446-b47c-4686-af61-f07f2279fb29 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:f3e2a6dc-5313-4ba3-8f53-a8108d04879e phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:4f4fe7af-a9dc-4b07-ba58-46b62954305c phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:1416ba05-1b41-449b-87dc-a982455d49cb phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:0d6f2949-74c3-4cb4-a803-53a785db5c2c phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:fd1bcbf7-e085-442b-a19a-2f365aecc384 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:e33f2b9e-66d4-46f6-9496-b665593684d7 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:1986497f-b9d7-4cf9-9bfd-ab5224e091d4 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:e0349d85-e0dc-4e2e-9e27-e220debb8c35 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:a08e64a1-290e-4bd3-9e85-a29cdef0ae31 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:0821cdcf-4d60-49c8-a303-6465334dc0e1 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:221b85bb-461d-4772-a8a6-ec477a01dd07 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:21335ed8-f452-4b6e-b554-3663aa46c1d4 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:1777d1a0-0c6e-4d78-97c3-4fae7d991a7a phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:9a618493-89b2-401e-aa54-bbbb131d8fbf phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:ad8d325f-4da6-4e44-8e86-92dcb78eddfa phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:d6b59a79-1977-4477-8e55-906267194904 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:4a112fe8-d564-490d-98dd-16c822b698fc phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0003160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37711075 uuid:92810c98-fed5-401c-b7d7-bb9fdfbec893 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:63ae425a-66b3-4893-b012-1ffd5724d6fb phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:56b5c04d-a8e0-4325-92ee-f5f74d6cad84 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:bd9a273f-08ab-4715-85e6-8ca3a127430e phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:810bdeea-eb31-4ab2-8899-7c90f8982289 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:52d35eef-9a5e-4139-b646-a1c347548fa6 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:9f2aceaa-3ba0-4e64-ade6-a50590336ab3 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37711075 uuid:8f89ec9e-c56d-4fc7-bd81-4baf438dd1d5 phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_disease OMIM:620546 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:37711075 uuid:6999a40c-b340-47a8-bd51-e063700e351d phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:has_gene HGNC:18619 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37711075 uuid:3bfc9d95-b9ce-413f-a791-67f75153ea0d phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:6de64141-b6a3-4ab9-b8c3-6eaa3ab15967 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0002335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:ddee9673-8ee8-490a-98b1-fe7ca8e66b30 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:43c59d05-0dba-4d50-94b5-4c08bb21de48 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:55264beb-a1f7-40cb-831d-91909e742bc7 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:827b95c0-30cc-48ff-88a0-06ee94fbd373 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:4e1c5d97-73c3-4ebe-bc66-1b2751818cbc phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:fe598ff1-0263-4832-98fd-39880a6565d5 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:1a595fa7-456e-456b-a229-1f61ebcc4208 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:8f8c3036-5ec0-4cca-8870-24581e116127 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:c3c8f18b-403a-4237-b226-91ad1ce24a08 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:bfbf41db-7002-4366-afd2-e5fd2e71bdaf phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:620a5a08-e79e-4667-9899-f99b58568a02 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0001188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:8435344d-02d2-408c-9209-3f4ed1f78202 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:ae0105ff-8480-4ecc-a4de-111da73a0446 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:abbe3577-40c5-449c-9877-0d878f4bb0f7 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:24018573-fc63-4d56-80e5-bcea2f858ece phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:11b9d44a-5f52-4fea-a778-d7d16bd26339 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:9945f5cf-28ad-4d76-969b-cf8200344a15 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:dea80784-2524-4478-ba35-cd0766f67925 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:6fbc4db7-e151-4f24-b85c-328ddff267a7 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30690882 uuid:3769508e-d284-4495-9c8a-85a5209874a5 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30690882 uuid:c3ee49a4-3062-4b8e-8a33-63560018478f phenopacket.store:COG8.PMID_30690882_case_report biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30690882 uuid:9335f6d9-f58e-4d30-9857-98be77b640bd phenopacket.store:COG8.PMID_30690882_case_report biolink:has_disease OMIM:611182 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30690882 uuid:eb2608a7-d20c-4bfe-8772-34a3cb3c8dc0 phenopacket.store:COG8.PMID_30690882_case_report biolink:has_gene HGNC:18623 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30690882 uuid:0721b7f3-2271-48b1-8542-545e7edf96c3 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28619360 uuid:6bac868d-b086-4a31-b369-e2d01cb2f51a phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28619360 uuid:bda759ed-fa10-47a5-9d92-93e71779b12f phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28619360 uuid:612ad4ba-26de-40c8-b4a2-f75f9b7c0a68 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:28619360 uuid:e905d529-9720-44f7-b4c7-18a306699bda phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:28619360 uuid:febd2048-0bc7-454c-a5ae-ccdb27a0df04 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:9b69f7cb-9a58-484d-8e1b-d88cff9da605 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:ad644c38-9c24-46fd-b099-f7a37d6c3771 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:02e91a21-e099-4ed7-90aa-6c22bcdc647d phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:52192722-70e8-4c5c-947b-72e7edf53076 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:8fd56f22-309f-4551-954d-f3ccf3b798dd phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0034337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:2be009a3-0ad7-47db-b379-58ebd9bad11f phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:e1a434db-991b-450e-9698-6e25f44a4238 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:09def82f-09e3-4409-9dad-acdec10504a1 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0002673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28619360 uuid:6bb096cf-2ef0-47e1-87ae-85ba6d2f0429 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0034360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:f14d8ded-d792-4a55-ae23-db62b561fc86 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:c54e38c4-f387-4f9e-b5bf-ca66270fd96b phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:2681104f-f2db-42cf-8b77-581885d52ec5 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:aab19e13-293c-44af-8684-6587c7053f24 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:e2d1c9eb-c7a0-4caf-829b-f15b316cbc0d phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:a64d2cf8-c91b-45cf-93fe-d1eaca44bf41 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:b2781147-9ee4-4566-9bce-ff0e5171ffd5 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:c2ef05c6-ea72-4431-9b24-16b24c74957a phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:d4961c73-d231-44cf-8e41-8f05e4818e39 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:4458f5a1-e3d2-4f64-99eb-8734f64bdece phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001137 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:853ffe9d-0e2a-4752-a1cc-4cefc7611759 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:1c1c1ce9-bbf2-4fe4-87d3-4d7ca6c659ca phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:4714697c-fcfc-43d7-b5dc-99ea5b6cce9a phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:e4023b8c-ea22-457d-bcbd-e9fd01ee285e phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:e6bbb7c5-392d-4527-b8d3-4b06ca33ff08 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:69efb90a-9e24-41b6-b395-40f2509da4bc phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:e2bfe4f0-a928-47b0-9243-dfcfb20484f0 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:167345a8-90d1-41cb-a029-5e1d5aedcadb phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:8ecfea99-1c47-490d-aa8a-b98ed9bc4ffe phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:89b8383f-ebbd-49a0-a279-7432cdf79966 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:5d549319-f9f0-4b1a-98ee-67575c5cbeca phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:cd0c6fea-51c0-4065-a1d3-da7d4a30c090 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:fa24b93a-962a-4ed4-ae1f-b5d3d2df7c2c phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:151da2b4-b515-41ed-80f0-0b3116be7d0a phenopacket.store:COG8.PMID_28619360_probadn biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28619360 uuid:49960b0e-4e11-4bd0-9e42-79f92d046915 phenopacket.store:COG8.PMID_28619360_probadn biolink:has_disease OMIM:611182 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:28619360 uuid:512e3938-a154-4f45-852e-b53911103eea phenopacket.store:COG8.PMID_28619360_probadn biolink:has_gene HGNC:18623 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28619360 uuid:0f2d7c19-bc5f-476e-abb5-530cd8106473 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0007267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:17331980 uuid:30b62319-4e98-464d-8701-b93ed14ab924 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:17331980 uuid:3fac0090-1d29-4552-a5d3-ddbdd98395a8 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:17331980 uuid:55ef9efe-98ab-42c8-8cfb-5c8d9d767fee phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:17331980 uuid:70e771b1-7008-4a9f-8616-ab1173a7905b phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17331980 uuid:970c4765-2ded-47de-b5d5-3e433b01f10b phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17331980 uuid:23a61f5a-f30b-4124-808f-478a922b28d9 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17331980 uuid:c09a2dc0-779e-4d78-9d9e-1bcce5555a11 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17331980 uuid:704ab138-a3b2-44d9-8ade-b9857dfc9fa8 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0034360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:f8bce807-2698-4004-b815-175016cdf780 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:c51a1f10-5fbf-46e0-a07c-d09e4f8c0aed phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:ae4d5f03-ea32-4c7a-8717-3709d5744eea phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:33d45161-4510-4335-90a3-36220dc50e4e phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:0d599e73-b431-43db-90d4-b52baac3b83a phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:4a8ec3b1-e716-4169-95b7-e48ee1a808fd phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:01209b70-23bf-46e4-a6d3-cf6aafe36fbb phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:e7fe176d-1d5b-49bb-83f8-990dd66b65a4 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:27d36f8d-675d-40cf-91a2-2d04398d43d0 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:7a9d37a9-3a68-4c2e-994f-d6cc3b063a3f phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:cb2be031-694e-4aa8-aff3-61b0c968e930 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001137 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:c76d1c23-50ac-4187-a1d1-5b102bab164e phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:da09e930-aa8c-46ad-8149-8b62ea5584b8 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:e3fb8958-0c1a-4669-b251-3b4bbe3bc2c3 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:e9ddf95b-0476-49ba-aed4-a869a408dd1e phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:c91623b8-388f-44fb-a333-53352b159a74 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:45fc49f0-9079-494a-af5f-0f5d943d3c44 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:9cbcab63-ce1e-4c17-986b-b412a0c28843 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:b1db62bb-a99f-47dd-a5f8-e961550607d0 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:4e58bd9b-00b4-447b-a0bf-42ad54dc25eb phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:ec6448f5-a4c9-4207-bbaf-0ff18a5f8eeb phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:94e42b11-3ec1-4c95-a9e1-2a39d135e802 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:eced63ed-39f9-406d-95d1-c1437ec3d929 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0034337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:f13471c9-6d35-4b21-b17b-f03d2749c5e2 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:908f3552-c9ae-42c4-96d8-26f2f949bf55 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:4ad8f778-1b61-478f-8b84-86eaa0fcda1d phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0002673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:4cf14011-8ac6-4a5b-b933-96da08985df2 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:76588bd5-70f0-43c7-8742-fa51906291ab phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:77cd0658-2154-4a4e-8828-c42617a97590 phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:7d0417e5-0dc7-434c-afc6-7b61f259f17a phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:1bae36e7-674c-4394-89ed-c070c389985a phenopacket.store:COG8.PMID_17331980_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17331980 uuid:8f09c8c5-a05f-4f73-9435-83c541f4b461 phenopacket.store:COG8.PMID_17331980_patient biolink:has_disease OMIM:611182 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:17331980 uuid:aee8434a-e8d7-4fc1-bc5e-792014156bfc phenopacket.store:COG8.PMID_17331980_patient biolink:has_gene HGNC:18623 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17331980 uuid:9918e3e2-56a7-4934-8f96-0e70f29afb13 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:17220172 uuid:ee01570b-f555-44af-bfe9-f95f93e77bf5 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:17220172 uuid:71a011d1-a39a-4e4f-9d61-c1d58d3207cb phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:17220172 uuid:92865214-994c-44a2-912f-968c8072c6cf phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:17220172 uuid:9ce327a0-4ec1-4bcd-b33d-06f75da651e4 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:17220172 uuid:430be813-e1ea-401d-8fca-cc843149cbfa phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:17220172 uuid:c02d6e49-c9fc-4a9e-b9a9-369431a9f7f0 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:17220172 uuid:9e8d6fea-12bb-4d31-9aa1-33aa186e0d37 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001137 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:17220172 uuid:2ab53401-d0a1-4eaa-b460-20628f1b6663 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:17220172 uuid:cb910b9c-4506-46e5-9147-eda0ba218b37 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:17220172 uuid:5476e88a-5447-46bd-ae8e-26f8cdafaff1 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:17220172 uuid:1a685466-7267-4464-911a-7677cfb2437a phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0034360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:9fdf45ea-c0f4-4ee8-b8a8-631c172ac4f9 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:b729d2ce-3287-4449-8c2e-3d7b0382f2da phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:dd98d964-6f0d-47fe-b849-7f59cf5f3869 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:18ab21c4-988f-4e50-b170-f764576fbc54 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:a5fd2b5a-0eaf-4c76-adac-2eb73ec026cd phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:dd3a5b32-0b36-49a0-a326-c734144304b3 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:378e6441-6680-40ae-a1d1-5d79fcbc69ba phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:654ee8ed-9756-4bb1-9e07-865e6b71c5d9 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:2d502ca4-a035-4c9d-9ec3-ff887d39e58c phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0004855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:0154d939-17f9-4e2a-99fe-ed5f99943e38 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17220172 uuid:36dc7c25-26b3-4606-8632-2edde3638317 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:e3a6919b-7e83-477e-bca0-eed0b9713071 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:2774c58f-df60-4572-a343-91e7ed09c6de phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:2b6545b5-a092-48f6-bbd6-c98eb8763f87 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:63f04a36-3989-4195-a273-8ee9e3cf4ac3 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:7f26d4e9-1e20-43af-96da-0ba6cd4ec01d phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:8830d417-9841-4fde-93a2-b7bbb374ffea phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:55e0ca1b-f6ab-42b0-9c54-7b8f652f9d2c phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:f96e615a-70eb-49bf-9526-be102d511ccc phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:e3b62a52-9c85-4798-9846-64eb89fe9bdd phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:130ab700-6182-4a2b-a385-c4be9b27c6c8 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:12e5d8d6-6760-4c0e-8fbd-fb11a27b2d80 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:6df1748d-c900-4526-b094-b95fec49a653 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:ff3268cd-788c-468b-86ba-946fb3b2d1db phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:5b8b840e-154e-43ce-8fd7-2bb253aa0ae2 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0034337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:2ce152e1-dd7a-43f0-9b5b-d76367e3fd2f phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:35e1fba8-bcee-4ed6-a4f9-6a6f9caf012d phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:29751226-1622-4433-ba26-37867109e473 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0002673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:5a815b6c-d6f2-4709-8896-8894cf5fc1d3 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:b49265f4-30c5-4071-91e7-ebd656da1481 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0006466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:3087370e-9acd-43b4-bec2-c2cd421c561f phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:2df2d44a-10a2-4ecf-83fa-a06aaa2bf7fe phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:6c48cd4b-e091-47ea-8e12-1946c84b76a0 phenopacket.store:COG8.PMID_17220172_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17220172 uuid:ec949511-5da6-4bc3-9a0b-87c75cba125b phenopacket.store:COG8.PMID_17220172_patient biolink:has_disease OMIM:611182 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:17220172 uuid:2719e723-1188-4453-ad60-0c242dede95e phenopacket.store:COG8.PMID_17220172_patient biolink:has_gene HGNC:18623 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17220172 uuid:cc95e761-118e-45bf-8fcc-9fae920c046f phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27081549 uuid:7b3d37ae-6222-4ed1-8d9f-c0b1c6d28956 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27081549 uuid:3de7be04-39be-4e88-8fd8-e933deb8a3c3 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27081549 uuid:93a4a008-b094-440c-9723-21a20f5b8145 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27081549 uuid:ba13c80a-8544-4ee1-9964-abe8f71c0997 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0034770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27081549 uuid:c58f6c99-1bbd-4b5f-923e-8b0f2d946894 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0003016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27081549 uuid:02b8810d-5606-442c-94c9-e70ba6dcce36 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0007964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27081549 uuid:a8cb7a89-7b5c-4e90-a6fb-c476f43b649f phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27081549 uuid:48e4ae69-2658-4ee5-ba4e-dbe6007162a2 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_disease OMIM:604841 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27081549 uuid:ffab3173-2382-434a-af9c-8ee9d69ab612 phenopacket.store:COL11A1.PMID_27081549_subject biolink:has_gene HGNC:2186 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27081549 uuid:a371b0ef-f0f9-4961-ad5b-2b4b84b3264a phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:6d991fb3-d8f1-4085-a42e-72732835c394 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0030840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:344c7586-8424-4345-a4a2-2417c06614f4 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0030839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:f99d0afd-5f63-453d-8508-35ae4ffe0822 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:39e2bd17-2cf7-4c29-944c-783b95d314f6 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:28971234 uuid:99b58a26-d3ea-4074-a1d7-ba54a8facec5 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0007973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:cf5d25be-bebf-4734-b9be-07f6fd917de7 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0007968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:7e55199f-9d4b-4f73-810d-8718ad2f7094 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:494e6a97-53bb-423c-a4d1-c93cb251df0d phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0012109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:1e825212-3682-4bf9-8d40-198c9a20919f phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0003508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28971234 uuid:11fa1000-fa02-4712-854d-f3a3f96145bb phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:59739d2f-74a8-49bd-b153-bd03500db53c phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:04fe548b-61f8-4490-9d91-54f179916da6 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:b96706c1-a578-4694-a0e2-1116cde8b4de phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:17d7ab31-da1c-4173-a2f6-0a396131e2fb phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:c0913b08-b104-4eb2-b0f0-704508fbdebf phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:e594fc68-8023-4443-a6b2-0649e117cdfa phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:fd20a855-8c86-497a-ba9a-5f528dc9d241 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:2cb8d346-b57f-4d13-ae40-6d1e7dd2fdce phenopacket.store:COL11A1.PMID_28971234_child biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28971234 uuid:44f31765-449a-4937-8777-8623f77e9292 phenopacket.store:COL11A1.PMID_28971234_child biolink:has_disease OMIM:604841 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28971234 uuid:90d03c47-346f-48b1-8460-87270463087a phenopacket.store:COL11A1.PMID_28971234_child biolink:has_gene HGNC:2186 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28971234 uuid:f0f9f27e-3ccf-45ec-b0c4-e75af2ce99ea phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:89f0ebf8-9067-4ae8-b5b8-21d0514060b6 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0008829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:785037b5-93a3-4186-a202-0c295f78abf4 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0006376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:13aaf962-1de5-4ffc-9a79-599cb8a29cc8 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:bc06b62b-d607-49b8-8274-d8ad62c2b8e2 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:916c9383-93a4-4a13-a97b-df57093588ed phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:af85c4c0-63cc-4a00-94f0-076713e1df40 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28841907 uuid:5249ddcb-7f37-4a7c-b7e3-b52e7f3719b7 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:f8ea84fd-5f97-4d74-b862-abb299081ce9 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:c0d9ca32-5008-4e73-966b-db54dc0827f7 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:2f83e89b-d461-41b1-9ef5-64bcc2ae00e4 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:3fbf2518-c0eb-4d23-a30f-fc1001eeb64c phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:b28ed861-a024-4a85-8378-23de5aef28eb phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:f90a91b0-4f5b-45a2-ae69-edf94a4faf0d phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:482143ea-b53e-4e49-ad55-be3532a860ce phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:5d30423d-00ee-440a-a698-a4bd69f42457 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28841907 uuid:4dcacdaa-8a07-4b71-95bc-d9aee076652b phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28841907 uuid:2932d3ca-7509-4180-8d47-e569b89e3a1c phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28841907 uuid:9d6ff1f9-218c-4143-ae18-b41d0a014924 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28841907 uuid:7dadc7ab-d2f8-4aef-b161-c187a3dff5e5 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28841907 uuid:c1a59b1e-cd38-4838-95d9-ac20791c4ac7 phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_disease OMIM:108300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28841907 uuid:775cd101-8b32-44c7-ba07-84d1e3656fae phenopacket.store:COL2A1.PMID_28841907_boy biolink:has_gene HGNC:2200 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28841907 uuid:b601a5f2-7858-4fd6-931a-14281fa00207 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6f20a20b-2e38-4a72-846b-8ab3db0d45e7 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:343c2b5a-7dac-4c91-9498-905f95522f39 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c3fb493a-2d67-4098-a38f-91f8ad58c466 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:7b8219a8-15fe-436b-a00a-a4a74331ed96 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:73459f2c-1618-4316-be66-3ac6b3ebbb7d phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a4f17631-fc63-448a-8dd2-681be0bd3cb9 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:01dfb7bd-4e7e-4ff2-8dbc-44148613cee3 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5852b9b7-2505-4e41-93b7-f67c883c472e phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:73a2b019-6772-4777-8cb4-2a0dcfb3f77e phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b813535e-0d9b-42a5-9b3a-146b66023f83 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:924731dc-2494-41a8-b8c5-b185ffce5a5b phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:fe2549ee-10ff-4cdc-86a6-eb88890cdde2 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:745421b9-8a53-43ee-b219-fec2fa45ff96 phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:3f508897-c377-4cc0-ba83-c13e16b4dc9c phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:36189931 uuid:c4f14275-dbc4-45d2-b8f4-d00372913f2e phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:e6a67c17-3889-401e-bc88-08280057e779 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:b30801fb-271b-444f-8463-09e204433641 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:46a9d321-3893-4356-ac0d-531e5fca1c26 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:29edce0c-6cb7-4b15-9ba7-adf5c7a4d8b6 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:78801ab4-eb8b-4cda-9541-86d08d04bdc2 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cfde0095-3d7b-43fd-bad7-72d676f5d597 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a6f009bc-cee5-4770-82d8-800df1991d4e phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e1717334-7015-4476-9b1e-8243a7f5c145 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a70e5d73-5174-46ea-a44d-e5639de2549a phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:38eab693-bdad-43e1-9f69-77ecac728ef0 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a98a1420-869d-4529-85a6-9589a016e3b1 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b2391905-d1f4-474a-b9ea-603aa0e7a2e2 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1c7c0382-3966-4aba-a481-7cf5d634b63c phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2999e63b-adc7-454b-a8c2-bc91335f5d41 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:99f76352-0f4e-4345-a594-7f69fb87baf7 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:36189931 uuid:7a7fc38c-2001-47c1-a265-ac62c7ab7a79 phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:bfcb87ee-875e-4df3-b7bc-3c59aed73e6c phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:4cc3b8d9-c6c6-4e2d-afa0-c5ef1fbbe9d8 phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:7148b79f-5930-44c6-a3f1-2e2338623a6c phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:02c034b2-ec7d-4d57-8b6b-31d102f8329f phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ae37c8d5-01e8-431f-b17a-fe7b3368c348 phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:24f60515-de39-40a8-903e-eb26f79076d8 phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P27Y infores:phenopacket-store PMID:36189931 uuid:25559df8-f291-4acf-8f95-f65818b1a0a2 phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:8013e8d8-1910-4829-afd1-1bf9a9ad1e55 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:47e9891d-e7b1-45cf-986f-c7002c58ea36 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:cba1c13a-96d0-4b14-97a3-56f620871ff7 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ee6018ca-0150-4e9a-9821-79619a7c664b phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:dde481ad-199b-4106-9859-4344817b9f36 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d57cbf59-3f9b-4d53-a4bd-8e6a6c5d0729 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:db30f7da-8a29-4b24-9a7e-135ba4e4f3e4 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:95b4e481-c1d4-4793-a735-f0894cac68c1 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cb024d40-895c-4d8b-ad94-c22231212e4d phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9df609f6-788c-4890-9c76-ab03354ce0c9 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:da5b633b-f12b-44cc-b2da-218dc62778b5 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6fc807fe-fb61-4ed5-a089-1b3e451ba1b0 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cd00652e-6d60-470b-834a-bb1c2a5d8342 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:bf7322a3-cd3e-4193-b02c-35a20c145625 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:36189931 uuid:2cf31643-3ec2-4607-81d3-708c778217e0 phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:85259d6c-0f66-4471-80fc-b1ed02ea1a74 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:8853308b-40f5-4de4-929d-74afef1f04e9 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:782f114a-f49f-494a-b8c0-7d5786e4fa47 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:44ae3a60-32a1-4e27-a5ee-621f5fe4efb7 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:dec42dee-d4e2-4afa-88cc-0017a3127256 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:16f51eb2-79eb-4d9a-8372-c75b84a36bb8 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9e6daed7-f75b-4a20-b0ba-b086832774a8 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ac4623e6-5176-4fb9-bf26-cf36976fb51f phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b9fcc0e1-48dc-4627-b857-3c8852035dbc phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9c752560-2d81-4fc6-b339-7aa2f5bf406a phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9bda0b8d-a8a2-448d-a25f-7d9f28bc7136 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0d5a36e6-89f5-4d9f-afe1-1a45818803a1 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:42486e88-6c76-47d0-9ffd-e9a13b8db9f6 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a0d05f33-f20c-43c8-bc2f-b03291576743 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:36189931 uuid:e233c1f2-9217-436e-b2ad-3d2c53a11751 phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:5d03763a-4d49-4295-811d-ce9b3e2eb4ae phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28742248 uuid:4517a869-df8a-45a4-a162-357ea4d47b12 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0002350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:f0a86cbd-7f16-4905-b133-7df412f068f7 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:9ed7de6b-362f-40f2-87da-e02c4a6a3ba6 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:e792c932-4021-48d8-9e69-7bb3389733f1 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:c24316c2-c796-49c9-aaef-3c641acb0b58 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:840fdba5-2d85-4bcf-910d-095babf56077 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:645130ec-cc39-48fd-84e0-0fb3c9bc68c5 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:83aa6dc5-1d69-4ad2-bedc-4764968fceae phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:cb7045b0-524a-4b7a-824d-c9dcd4f22851 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:5ce82cc0-d28c-4f9f-a5d3-b7bb98eede74 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:878dc934-3373-4a4b-a95e-2d62c3c8f66a phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:a600fe3e-af6f-4090-8507-08b72dfcb165 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:1a942867-7853-4cf9-98e4-0d1cedff1ce9 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:2968105f-a71f-4066-9d97-6baa871e2e4a phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:6e9e27ce-2430-48fc-859d-a51b2e91ff11 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:341612ce-7b23-46f9-8e6f-5dfd47729b71 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:5ee3137d-3419-40ed-8276-5b279542090b phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_disease OMIM:618343 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:28742248 uuid:7bfaf9f8-13c4-4005-9c5e-786f20bd5721 phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28742248 uuid:a5e9f321-eae5-4433-8358-3f1199ff852e phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:14838f5f-3a36-492e-b098-7c7c53706b19 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c90ce342-7dda-48df-a0da-eee0951b8a89 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:8e142443-3a24-4c63-afdc-a80defb2e34f phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:dfbd1b0d-0422-4ff3-91ab-95b8ff4fbbfa phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:bc9aec91-7b4f-4456-91e3-9b0cc6f5ce33 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:1a15d7c9-4fdd-48bb-81ea-f5a22a93bf67 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f8529c2c-8c78-4ad6-829d-c62c728f9814 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:29106301-d9fc-4baf-82fa-19b112e99db0 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:161953e2-6953-4aca-a8d0-8f7f53e8bfc5 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b5823910-cc36-4510-a9e3-fd1b0b4829bf phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P65Y infores:phenopacket-store PMID:36189931 uuid:1a32e4c8-b734-4241-9c1c-8ddcb8b67f12 phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:6db340f2-9f66-4990-a7eb-8d3f432d745b phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:f6b13f47-891e-4cb5-93a1-0b0a9a12c63f phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c7d1b665-812f-4291-9cca-b879951f94b6 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d49a1bf0-eb23-48ab-9cc2-c8df60127287 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5e477046-8bc2-4b0b-8453-7c45179d8c40 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:56122e29-38fc-4ff0-828a-aa77533b38c5 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:eb721a91-38fe-4427-a139-8a53720bed15 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1902f14a-2f25-4a6a-a6e9-211d1901bdf4 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1a6e1e5c-03dc-4574-b9fe-c6b888503f3f phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:10e5808a-31fb-42c4-95ca-0f069ad13c19 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c694da67-ea59-49b4-ae28-16e458fc2124 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:36056b65-1304-4b6c-bc31-6727670a2768 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9975ceaa-5f35-4075-b6e9-22c47493205a phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a5aad37e-eea2-42fd-85df-b252154f994e phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:36189931 uuid:8b311f65-11f0-405a-a442-bc509773cb77 phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:5307a1bd-6040-4e64-9130-1f4d8e0c0921 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:b05f6599-a101-4182-846b-8565b1852c9e phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:bdde7bdf-4677-42ef-a24d-95ae2e4d0110 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:e603a940-ed94-49eb-b96f-8c93b1009951 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:032f3c18-c5ec-4607-8088-229ca7ade5af phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:f0761d14-2c94-4dc4-813c-6a613d15a631 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:65ff340e-e6c7-46df-ab82-92668a9890dc phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:cb15dbed-7eb5-4da7-abd8-89f547e2eea4 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:e8fbdfc5-343c-49d3-a5da-cc7bd2817445 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9c1ce70f-6e78-4f05-9229-99025599fe03 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8c9335ba-847e-40ff-a7d6-578bfb2ba7c4 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:7c230a7e-6686-407c-a38e-8a5d7e9ca625 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ca78a728-f1a4-43a1-8bf8-c1d4b2023a17 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ff70ba9f-725f-4d03-8a46-8a215370eca5 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:36189931 uuid:f8659bab-1ac7-4403-81ed-db65edcc5f78 phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:6a67edb5-1740-4f9e-b88d-7ce697b47d90 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c275183b-8e78-44f0-a043-3dd7a326160a phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:f0f9bce9-e647-4caf-beeb-b1717766d023 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:af06eeea-fc2d-42ed-aa58-5e5b8a8d5659 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:e04cd732-1fe5-49c1-9cdf-2438b3ac7673 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ee076374-154d-4a33-b84d-31de391a49e9 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:16265b98-247f-499f-8444-b8a56e15f821 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1f7528b2-6176-4402-8102-e0d758948d0a phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a6e1fac6-4f35-4723-b5c8-bce076de3fb0 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:84a9e362-fdca-4d65-b2f5-0a2a70cee317 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1ee52046-b87f-4ff2-9b67-d689e3beb581 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4a339f07-b126-4adf-b2c4-acf4ce4e00ca phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:08aee249-008b-4e9a-a83f-529bc0d564f2 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P49Y infores:phenopacket-store PMID:36189931 uuid:50034b5d-7bfc-445b-b7a0-c085466e56b6 phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:65a0d30b-289b-4142-9490-a3106f46c2c4 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:85a6184b-e034-4bb6-b1ea-509a10c6b9ae phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:68c9a93b-b62b-4747-bf45-e11bec01fcb6 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6da634d6-3699-43b4-b1d5-d2d742f4f190 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c2d52bd9-8f04-45fb-b93f-eab42f7b4ea6 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:d0603c53-f75f-4151-9319-050a29be90ae phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:26bc1ad4-e26f-4c92-b173-cf4b0e99ec13 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c0fc3470-b38f-4030-a3be-aa32c804df6a phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:054e4f9d-12f0-471f-93b4-b3617382ae38 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ec62a357-8a88-40f9-aeb8-e27b48367e3b phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:689be010-d55c-421e-ac47-a0915f313706 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:226ff3b0-2a6d-4080-a7bb-0ac0add839a2 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:04e053de-c156-4a80-b6d8-07dbf7248319 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:723b786b-90df-4018-95b2-7f1e19163a41 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:151ee60e-cf39-4266-9fd9-820ff40980f6 phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:36189931 uuid:df9888c5-8667-4192-8787-8a9aa37eb4db phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:c2802975-cdd3-40cc-a223-0779d2db8cd0 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:bfdce5ae-e2cf-4437-b09e-269298327c42 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:cb8c3461-2239-4cae-9467-69002bef8515 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:455baf79-5731-4b82-a3be-444f27d463a1 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cafe313b-5b65-4f36-8722-c4e9ecb02dff phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:960a8a65-7ec1-468e-bd6a-ab92ddec5108 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d2bffacc-7410-42f6-9ad9-ea58ff21e857 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:3af9737e-90a1-4301-96e3-65c3d5106666 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5e2bd137-52bd-46f6-8cdc-7dc8bc64278e phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6bb4b1a6-913b-47f9-8acc-2fa51a0f84b3 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:19204b3d-7a53-4253-8b86-320339b6abde phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d6d21ec7-c489-4f72-a4da-ae3ab48c535c phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:10808a5d-1774-4289-8ffe-8591c518ed4c phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ddd6b580-03f4-4550-9001-fea64e39d8cc phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:36189931 uuid:a95e5415-4bfa-4bd3-9b14-bcc608c836a7 phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:ca196a6b-c51b-4cc2-a57d-e591dc21c110 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:52221897-2804-486c-aef7-2f00b9aa4e3d phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:d3ae1821-70d0-4b13-a2e8-a3a3e7280982 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:e061622c-cceb-4484-bf68-4339781b972b phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:be703b19-295b-48c3-ac00-ae3ee40b8320 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:3957e9aa-e330-4b7f-a83a-805f76eb4dc1 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:2b86ca9d-3604-4932-8926-8e245fa82293 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:ec6fa10f-4ca1-402f-95a2-3570c33ec76d phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:51963c9e-d8d6-48ed-9e44-0c50b5c97448 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:a7442282-a669-4fe4-b8e9-6124ed5f1163 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:ae4e27e6-abc2-4b4c-a0ef-9919c9821800 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:becc9c7b-81c5-4a9a-aa88-7eca27b7eb23 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:979455ff-57e0-4c98-8ac1-c6865e0558e5 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:77727955-7532-4c32-b4f9-29e54636744f phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:deca8dbd-2848-4823-bb51-b58dc16ecd82 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:eae854ca-1858-4fe2-9dc1-4e85b064eb8c phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:9c7fbae5-990c-45f1-ab72-9e74db9e832b phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:6879f865-4adb-4d4d-bd5f-aabf76c5a562 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:dd889f2b-0476-409f-8e0a-7531d238667f phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:718409ef-0152-4bea-ad96-38aedc5e19f8 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a53e9a62-ca9a-4391-91a8-2d0774a99199 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:6e3e2b72-815d-4a34-ad78-da94261631df phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0002350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:35557d5b-81be-424f-9404-80153933dad6 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:22fd09f7-45e0-451e-b170-a37c622e3291 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:d57250b4-5e99-438b-85b1-d9b1f9c08d3c phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:47547dae-a16e-4d9c-9833-d008d21bd017 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:1137af46-d047-4151-931f-42fec808b38e phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:1ef58641-265e-4886-b9bf-65b5780be460 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:8ae6083f-10ad-46d4-b207-cb4c4787a423 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:9b98e61f-3a72-4566-80d2-0dd0731bc6ad phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:c2ecc22c-db01-47ce-ae8f-d43181f01c0c phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:bb8344b9-a063-4f18-8124-dc56f5ad10c9 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:71876d7d-cf54-41b4-851f-3efc8ccc67ec phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_phenotype HP:0030816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:c47b2aa8-c885-479c-a49b-9e2a29a11692 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_disease OMIM:618343 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:b9fe1f6f-0155-419d-b06e-f457001c18f9 phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:83b111e5-ceab-4d46-9b9c-8cdbf0595388 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:3d4c7bd3-f45e-481a-abe1-4c33f0c503f6 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:3f00e1c8-7f6d-42fa-a547-5311ee533b6c phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ebc297b0-1574-45fd-961e-7ec642aa2a50 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:94c4ad61-9e0b-49dc-9bda-3e5586db3a51 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6dd20c24-090c-44bd-9c82-afb13fb68aeb phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8dbaa1d8-bcb1-43c1-a1d7-6b686c51bb94 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:47c16bc8-ecb8-46c3-8dd7-414854ab510d phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5a4916bd-0431-4df1-9331-c7457ef671ff phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d33e036f-0ad1-4acc-b452-ace5ac9678da phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:25b30ae8-5f1d-4ec0-866a-f538fc8087cd phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:935a0476-ba41-4e54-85f5-ca403d39d51b phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:dbe1295d-6fe3-4a05-9be2-05579eaa41fd phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a236bb83-3030-4793-87db-479d44df6539 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a575222e-aaaa-4fbe-9a21-2f9cb97a764c phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:36189931 uuid:2816e682-728c-4c92-a839-3c2426a21059 phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:16809644-f9e1-47c3-afdc-98f9fc3aa724 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0002350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:0273cf5f-f394-49dc-b536-a1ece3020db1 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:c81d8d24-13da-409d-882a-e970dbdd5878 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:8c72a6f3-5ae9-4aff-afbc-6c651250f63b phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:600b283a-8df0-4a75-ab3f-3a2cc0ebdb5b phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:d2d9cbe3-b7f8-4207-85a5-06388d60fe93 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:6fd7b258-0e4f-4acb-92e2-799cbfbead14 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:ad32fa3d-56e1-4c79-8ae1-b4bb7427057b phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:b1530c58-b10a-46cc-b642-e1db93f94b89 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:240af922-2af0-4e18-843d-fce0f9cf4abb phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:5ab691a0-1e03-40a9-9660-16b71fcbabf0 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:3102f5f2-3db9-47bd-8de6-335cc0b34986 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:ed471fab-31d1-45b2-bbd7-6f0d0d485e22 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:fc8fa5c8-8547-4f8f-8332-fd9eb0e2b2ef phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:4cd02280-c44e-4c41-bd83-7530806940a6 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:21ac2054-b4bb-4935-9673-6fa419cf04e6 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:78b5efad-099a-4d0f-a862-0bdf2af745a5 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:cc5ee9b7-3d7d-44d9-beef-56dd6fd151ce phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:5b805fc3-4030-4c54-98aa-efac7fddb2f4 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:230ca329-b30d-48b2-8236-39f2af853da6 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:5b2fcf7e-aee6-489c-9c8f-45f892966d6f phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:61a6dc53-04d0-4fc8-8a22-0c3d9fedcf88 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:4920016e-0f87-46b1-af74-6c67dd36f752 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:d9c03f41-8e27-4d6d-b446-21f47731f147 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:e00bf0fd-294a-4300-94c0-32b7c38105f4 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:bcd3fa9c-e1f4-4b85-9570-f79e644ef46c phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:1fee2118-c3d2-4c33-a396-1043702809af phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:9331b70d-abd9-49c8-92af-a712945b3403 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:c94a54cc-06f6-4f35-8030-13c9257aee9b phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:1b8025fa-6461-4834-867c-70515cd63b8a phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:efdf2b65-7a5b-419b-8bd3-a71a3e79074f phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:6886c2bf-91bd-4e1e-a38d-fe922a0f4c55 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_phenotype HP:0030816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a3e85a44-f543-4b2d-ac54-d8d4d8c341a1 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_disease OMIM:618343 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:4e2e99bc-6b94-4281-b600-cc8a3ff03d27 phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:36c771dc-9c9b-49a6-8756-f7850b563495 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:59469507-f2cc-4549-a567-6ade66d285ac phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6da9b9aa-bf8a-4eec-90ba-fadc5e47056d phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:3c18d89f-901a-443b-9032-5a2246f1c590 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:42f1594d-5d88-4a53-9f5f-77922a1e7fcb phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:d710a252-648e-4685-885f-0f1717b2f805 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:82bbd397-b0de-40b4-a5e4-63b7310ff5d9 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4e6f637d-f9fe-4b9d-8cdd-105c8db5f5ba phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:093b8f64-d567-4045-8f4b-8f14250c4811 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4f9916a4-1ea2-40a5-a4dc-91d13bc6e7f9 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:959fd2cd-1216-40d7-8722-63562d1482a2 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f7725a33-0add-45fc-a58f-a748969d97e7 phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2191db3b-0b88-41da-97ad-a6bb35a69fef phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:59cb5044-41a3-4d01-a034-c50d27c984bb phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d1acd922-f1ed-461d-adf1-97645fb35a5b phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P53Y infores:phenopacket-store PMID:36189931 uuid:561beb97-5522-4526-91e9-54616f33ebdc phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:3c4e9d3d-c593-4ea6-82b6-fd2d30557a43 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:3983d9b7-7f84-4fad-8526-3a5826e4ea47 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e59e190e-e4e7-4eaa-95a8-5a453e0e7439 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:63600923-9e05-4d0b-b741-585c1b31c50d phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8dddd761-d400-4120-b8d7-ace18783f295 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e114c888-00cf-43c0-9092-e28b644d3f21 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f0650014-dd6d-4643-aa9f-04263f1d5098 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f3e92149-fc1a-4fc4-b9dc-3499a7d9f70b phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:aeddbcdf-fc8e-4bd6-b8c3-d9844f4cd386 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:26a8869b-9586-4c94-a310-6abf0645dcb6 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2d51b829-a7d9-44b9-9d22-c47269b6057f phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:355f2a81-e555-42c0-bbd5-651a671fd287 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9d544b9d-c199-4784-9ecf-27a793511671 phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:36189931 uuid:bd5cf495-8a2d-4d37-a9ed-1fb6d6949e9f phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:dc73771f-7a5b-422f-b9be-c341bd88fcb9 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:1cf14b67-97b4-4d0f-805f-36bfaa44ba62 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:96d188e5-2626-4516-ad30-89790b1fd5a6 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:c159cd54-b2dc-42c3-ae63-7e17f0b35a18 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:b6cf4af4-466c-49b4-b1c7-cf70c5528858 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:477512bd-ec41-4128-8461-bacad78f07d4 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:9301162b-931e-41e1-a13a-5681589466c3 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:3ab2b045-e94d-45c4-b5f8-fbc34af2ad5f phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:40e5408b-2d03-4ddb-80fb-182a88447691 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:675e01c1-4403-4959-a80d-65453b38b0c0 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:469b3222-f1d1-4b75-b1af-b2160a64303f phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0030816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:95b7c2b5-e2cb-42e2-b7b6-a36c12504c30 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:5db713d9-d4c9-4de5-a984-5653af730e46 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:80d2cfb6-fb64-4ce5-8a63-ef98fbe0f9fe phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:65166cee-e97b-437d-8b85-5e60e8f34f20 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:fd6cd5f3-eb77-4027-9b90-8dac6ae16586 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:7ada4940-114f-488a-8263-62b33a012355 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:58720826-7b2b-43dd-a284-745e30c4674b phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:2a9af516-66bc-4a74-b2e9-2d47094caf62 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:b5b2518a-98c7-4a9a-a1c1-320a40cede2a phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:cf8df9e9-3618-4578-a8ae-16b955cefa91 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:37ebea95-d6ca-4aa0-8728-394f9830b7c1 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0002350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:419708e9-f6b5-4147-acb2-4efbd3d12bba phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a39d1c15-64ab-498d-bd14-1ae0347bc728 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:285e06c3-5e59-47d4-a275-d17903b207a4 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a21ac223-6c48-4f10-bfd4-0e8966a399f8 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:9532ec9e-b689-4676-9da7-9743ded90cf0 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:ecad8a3e-f966-465a-8728-addce2519997 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:6924bb7b-2221-4604-b5dd-3670f7a503a8 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:e01c7061-16cf-48ff-8b52-f9192ab7661a phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:9d616d8e-4b72-4e17-9565-37e6e237b6c4 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:1c4b2da9-72f8-47cd-83d7-5d3824003842 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a8b0c8cd-f7b3-4781-9adc-5d3deca02dc0 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_disease OMIM:618343 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:70a57921-1d79-4eb3-bf0d-2c6deef25900 phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:bc518b67-227e-403a-838e-3d48701db395 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:f61de155-c237-4525-ae58-a35219e097bc phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:d52e5e7a-1e57-4b3f-8c75-ff17d111324e phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:5308dda0-52dc-455b-b171-0691e9863776 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6b41120d-028a-4a5d-9570-a965b9c9a12f phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:e23906e4-4a8a-4ced-81d3-d11c00802ca3 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8b630cd1-d64b-4721-85d6-300e63d63f31 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:fd602733-d558-48bd-9008-af44fba773f2 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:68dc28d2-1a9f-4830-975a-ece5c4413bc2 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:755c53ae-914e-4389-b58e-ad4c0a273abe phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:315fbc53-ee50-4645-b3c8-853fa324d80c phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b43e8d2e-b995-4115-be6d-c3bfbd711bd2 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:87905347-e2c4-4530-8b3a-00ff31739943 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:eae6b5fe-ab8b-4c9a-b6db-0c91aa745214 phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P43Y infores:phenopacket-store PMID:36189931 uuid:57abb577-5d58-4bc4-8611-038c755cba1f phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:1c56ec8e-9b5e-4834-8557-7c0b6df2568a phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:36c31209-432e-4647-9af7-5d47a7229df1 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:8c2494a2-3ec9-434f-b3c4-aaa61eb1ca85 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:efcb48b6-6a6b-4a3b-aa32-58cdd9b95fad phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ecbc53e9-49a9-4f7d-8dc6-6d3c31e5d3c1 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:72479d90-406d-453c-8f23-ccc1bbfced75 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:7e06df76-8b7f-4fab-bd44-54d7aadda022 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:13b19a16-8ffc-482c-a7b1-7c0b3cc23a65 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0eeab2e4-4239-49b1-8091-425e5f47bc40 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6321ccc1-f3e6-42da-ba7a-0782077ba3c5 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:43d33980-3958-45be-8049-829eca0e82f5 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:51e4efd7-feaf-45d8-800f-9553fc34d598 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:fa840682-19cc-442e-a323-840306024cfa phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:36189931 uuid:1a369a9d-e6a8-49a9-a5eb-9d4bff092769 phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:4e813ff1-2e56-4e84-9f93-aa7a6d3a13ea phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:cc4ade32-31ec-4165-9f0e-1a5e0cfc54bd phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:5cfac68e-bd11-4ad8-8b97-cfcf4f11f595 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:992e6a97-2198-4223-b190-a368d32246f4 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:0a5e5bc1-9126-469b-910c-fc81a3ccfddf phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:0c7390b8-002c-4056-a56a-f850a1303d37 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f5324e3d-8139-4b16-bfeb-6d99819d6879 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:12d53e4e-c92e-4cd8-b647-3ca275604b73 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:758f1cea-f23c-4716-baff-ee40aecc71e3 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:51f73b29-ef19-4eec-b9a6-2641e5743a70 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:210449ea-af1a-48a8-b636-a400183fc644 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:90288dae-1a34-411d-bb6d-600986f44e0d phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:3ffcbddd-05e7-47b0-9307-85ad8fe33a61 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P55Y infores:phenopacket-store PMID:36189931 uuid:b7c4e744-7ed7-4694-90b5-42dc27875333 phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:67dc59b2-d911-4c89-8e37-2f8ef1b439e8 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28742248 uuid:5a5bfec5-f2cf-4e6f-8e6b-6a18b6273faf phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:c66096b6-f410-4c4b-b7db-e51e0f4976af phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0002350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:4ef1b157-d3bb-4aef-8163-a21c650111da phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:2524c4ec-d869-4fb3-8348-b742c474bcfc phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:e48cd21d-cc30-4fd5-b90a-8646efe3ff23 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:8046691a-ad3e-47f0-804c-c7a46d4f3a68 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:6673e355-92bc-4293-a6f9-63c183f1ba51 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0012246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28742248 uuid:01de3b08-7afb-4419-82b0-87318ab0edf4 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:44786b27-9542-4e7a-bf25-e50b19d79160 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:f341690a-c8f1-45a7-86ab-eb984b72e99e phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:84db9c9f-5793-4d30-bf1c-d5816c8e5247 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:591a2bb2-4872-465d-afb3-1f2fe080424b phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:52d29af0-9d63-4cb2-9492-af32ad39e248 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:ea2a843d-f0e8-42df-9d82-d042ea41d9ce phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:d6a01359-67d9-4946-a8d3-6398b1193495 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:4b3ec6d1-f4c6-4af5-be08-5c597f766aff phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:849efa29-d180-43e7-bc27-8cb71fd7e5fc phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:68e10dd8-2c08-4c3f-890c-91da183ba016 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:11068167-7875-4734-af00-adcf2bf8e1cc phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28742248 uuid:49676422-5a28-4513-b09f-2a022857f368 phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_disease OMIM:618343 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:28742248 uuid:32f75a3a-9783-4a28-b118-c351ce29467d phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28742248 uuid:b7dbb0ca-33de-475a-a7f6-01b324f9b149 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:d80ff664-b0b9-4e86-9e43-7e81f0467de1 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:3a726890-6ede-4375-aece-78ddda47dfaf phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:f1de9a09-f8a5-4d24-9821-fdac79775aca phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:8a0a6fac-b56a-4229-afd8-091e14ea7ce2 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b3b7add2-8c24-4ddc-a40e-7900f31c114a phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ca829304-71a2-4036-a93a-899e7901ed0a phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4e1d8038-9892-4279-ab39-217d5d1b8ba3 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:dfd34a85-5150-4122-8d1e-1f622846a643 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:bd9a427c-7547-4617-9702-ab72d11eb405 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5ff43d6c-6e6c-4e8a-8b47-27c5e263d098 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:13be80bd-6ff3-43ca-a0bb-3e06695aef52 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:7f1adb01-ec21-4283-b724-4e5e1f841af9 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:60ed3b7b-ccac-416b-a321-b51b05578eb1 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:36189931 uuid:306ec9af-af7a-40fa-91b8-5797ca6bf7e8 phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:e0b37beb-cb1b-4c84-98ca-1f5cc27b4287 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:3f405373-c053-4257-9d03-148cc658d638 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6007aa35-eae3-483a-b1ef-5c7ad26b00dd phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:a1e3985a-d8a6-44f7-ba7e-f53776d3aa34 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2cb73fe4-9401-4ffe-b328-1d24c7316abd phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:807f7c3d-3b13-4999-bcd2-d85f18feaf9f phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:46c3b543-1cc2-4d00-b1eb-c995394580cb phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6df5e070-6fda-48a7-8677-ab64eb677881 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8361a013-54d7-4e20-bab7-254ed4eba1d5 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ff3da514-5fdd-4136-9e04-75f8922a0644 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f9e150ef-69c3-4e0a-bf50-0104cd75560d phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:11b710a8-957c-47fb-946f-187af54f3eb5 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:42198676-7296-4647-a3c1-999d9bd8bfc2 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6bcdf1a1-6aae-4cf3-a5c3-0050adf3dac5 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b2b93d87-b6ad-4ce7-a7c2-a8097d644025 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:36189931 uuid:822b2d20-600f-4c5b-8915-93572b57f773 phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:e37f4156-4498-460d-9290-717784f603df phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:fcc9e64f-78d7-48f6-a574-5cd548e7291f phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:2089cf59-983f-4d2d-8b87-8606ac54c27b phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:80617e69-af0b-4c26-9ea5-cb2ba4f32886 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e67158e5-6fa8-4bb3-af3e-7397866297e1 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6b14789b-ea54-49f9-adc1-f2d495631ea7 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cdd8807f-1106-4788-8f0b-f6177ccf8d90 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e95094c9-6193-420a-b848-bb00ee0f4a29 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f52d8350-c777-41ce-a6c2-14d0fa98113c phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:7e23a12f-2950-4183-a6e2-ddafad8979e5 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cc2b017b-691f-4391-8971-228c04678e14 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:80bc366c-64cb-4e60-89f2-37f0d440ff5c phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c561439f-cb5c-497e-a198-9ed4bde7a0fc phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5ee344ee-49ea-4729-b6fb-785d4b1055e4 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:36189931 uuid:3fa4c16a-8e5b-40cc-a40d-5f08c03db279 phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:15d6a5b8-5c36-4f94-9d9d-e3cb090d7079 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:9940bc79-c52f-4c80-94df-027e32ab6538 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:d6305c08-de05-4bd3-a12b-d1d5261524ba phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:4eb15570-fc46-48c4-9420-f97808e01a5e phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c9b67782-3b61-4995-acdd-fa4cb9abf992 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b10e205a-e86d-4a4e-85a4-bec6496cbd6c phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cac96247-e41e-4c02-9d9c-f8f48710f0b9 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:82b0921c-789a-421d-b0e0-dc39359df795 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5441d108-4c13-4710-abda-099633c06dbe phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5fbc4ea8-3f7a-4414-8bce-e27901d3bffa phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:44c56a91-0380-4307-8aa3-96b7bfae4016 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f480021e-14f5-4894-a28d-b8ba9396d9f4 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e6a2f0ca-6ae0-4454-bfbc-11341683c268 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:3c329337-cf06-49cb-99ca-0af00018ec2e phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:36189931 uuid:0d2d5eda-592c-4e72-be0a-4281b52cbc26 phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:be24b96a-9c87-4b65-a4b3-a35bbfb004f9 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:1e9e2b99-7017-4e7b-b4e7-70739d16e3c5 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:b3d3c12b-c58e-4bf4-95f0-25d35c0dc0ee phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0f7552a6-d8d9-4994-8228-54d921234f31 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:bf0a4ecd-c1f4-49b1-900c-c18f6c7df4b7 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0428ca19-da40-425b-aab7-c7080adaefdb phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:91d86c80-73c6-48b0-9acc-532cfaae27e5 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2bc09d0b-26c9-4c5e-8694-49383bab9afd phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4737634c-b323-4539-af2b-6b2fa0aad014 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:db8b869c-a23a-4d46-863f-bc132f9257dc phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:13045ac2-41ca-41b2-a27a-70aad70da4ac phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:81a5b01e-78a8-4603-b44a-319dbcfacc25 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:94889bf8-3c6e-43bf-9f48-f3bb2f18a460 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:54f8893f-e403-4f6d-9337-9206d2f969e5 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2eb9e35d-c8e3-47d9-ad72-9e0c01c5cc8f phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:36189931 uuid:28bc08a3-4226-4565-badc-cd52f5afd343 phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:da2f0bc7-4051-46bd-a103-515f566128f4 phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:1e051717-e172-4156-a118-30fbadc30e1a phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:1784c7e0-ffeb-4870-87cd-c843004bb2af phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:fcb529b4-59b5-40ee-b1e2-2370d203c9c9 phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1855c52a-7321-4af4-b3e9-a9a75df1211d phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:35a91392-ef8c-417c-bf56-9f97f9ecb7db phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ad730696-17ed-41d6-9e30-0940b5e9c72b phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:22a09311-0e20-4c93-bcf5-b038f5e51e9e phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:bd459425-56f5-446e-a56c-4896d963a67b phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b5c0b6ef-f9ed-474b-b33a-8ab8361bb65c phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:76afc6d2-4d58-473e-932c-79f448ac9bed phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:98d4c793-7446-42ff-8710-0b20d14ff36c phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:49066b30-36ae-44f5-9daa-8bca0e92b525 phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a1f1282d-37b6-4736-82a1-af1a4508d629 phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:36189931 uuid:1ec5446d-9324-4c05-bc47-3557b3e2c77e phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:1a6f5fab-c293-4d8c-bc78-e1cf0042d902 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:687f4441-3d1d-4a43-96af-a799340b90f1 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:e1c1c493-9ac2-43ab-9b95-2a06144b190c phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:0667077b-81ff-42c2-af56-4aa3cf9df0f9 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:5600c8c6-ac0f-4d0e-b07c-0c9ea9f51c15 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c6af38b3-a632-41af-8e72-c19091886bd3 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8e9deb5f-c604-4f7e-b859-602a0194ceeb phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e1d12931-7c41-4d65-a01a-7c0c008d2d91 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a6fa011d-aa75-476a-ae2a-7898cd681e4a phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ec40651c-5553-4ea1-8eeb-6f4c62418c8e phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5be4e89f-290d-4755-9110-ab2594314c9d phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:92398b49-6383-4065-b1e0-099db0f1e311 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8ccf84a7-c1c0-4d30-9a8b-91007c926d44 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9c9670f2-6972-4110-a303-fd248cf414c7 phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:36189931 uuid:83da5988-eb82-44b6-a626-5bc1e227be1f phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:e1bf7a58-6e01-4e9f-9322-3363f594f8c3 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ae4d2943-dfb9-40ce-9572-c1f32b537786 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:89b415c9-619b-4102-ab5e-29e3e6fb353e phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:4af1d9c7-1c4c-4829-bbe4-11ba2de540cc phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9f03d180-18ce-485f-97a7-ac592755df77 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2cf5825d-aa71-40a2-a4ac-6af4ce4cdadf phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b65077cf-80c2-4519-b915-05655fcdc24f phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:23548beb-87e5-4cd1-b692-c2df7c900850 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5f53689b-0ea5-4965-afe8-625e4ee8083b phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:08fb1053-e2fd-4b83-b395-08d1a91b5fdc phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:3ca5bc21-5780-4043-94c5-f8e81a3f72a6 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e88ca2e4-c26a-43ab-ae22-0886107f493a phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:40d7301b-820b-417f-9a55-ffdcc404c055 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1b1640b9-91ba-418b-98e1-6fefb7498542 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P59Y infores:phenopacket-store PMID:36189931 uuid:0df4954a-899c-4e50-9edb-11fc700f9fa3 phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:5ca5dd88-0873-44a3-8c92-bfcb5f9e00c1 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:1073bd1d-33f7-4c39-a4d1-564961017bad phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:0706ee3e-6f81-4384-b3d1-53d634230601 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:5402528c-94de-488f-87ee-0133bb6e0b58 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:b121dc17-37ea-40fd-8256-c7e6ff392451 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c64065e9-7a32-40f8-9029-18f1daf58516 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c99aa705-4079-46a8-a83e-56e750ed7c19 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c521439a-43e1-43cd-a67c-5972fb7e6e79 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c202f584-d4b8-4966-bc84-2e3897f31954 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:16537e0a-8324-4b48-85ac-eb3baf59e35c phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2a4d06bd-0e87-4d43-9079-368a004d5b14 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:384896eb-d0aa-4db5-ba05-bcfb2630915e phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:03bb3d11-9d6b-4d76-bb09-efd40086a21a phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5b822086-d43a-4989-af42-dfe6d94eaff4 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ed04b4ba-2c1b-4d62-b417-6eafd8839af1 phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c8528b70-8e73-40d9-afb5-f50d1ea55cad phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P54Y infores:phenopacket-store PMID:36189931 uuid:d6001ee9-8d59-4af9-ade7-2a05faf9f93d phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:29771137-1a65-4717-8fd5-96ad59a8d5d5 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:a1498960-96d8-4fa1-8d2b-a6ecb2b8bbdf phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:072496f6-42ed-4be8-ad52-e30b8ba241d9 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:eaaf20a0-2d8e-493e-b54c-c46352ad349f phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:61b6359e-4502-4cb6-bfab-5cef89330df7 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:651f1b90-d0ce-4367-aea5-2c67d219f4d0 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9d3fc781-ca24-4e67-9b90-7037fb917f5c phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e5fd0a5b-eec6-417d-b076-505bebd1e912 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:fd1d3182-47db-4eef-be1d-825f7447793c phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6a9a82a2-0335-467f-8e39-2cc3537a556c phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8a2e69c6-d711-4005-aa35-385d7880946f phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5ac54de7-5d65-4563-a7fe-eab61cbc4331 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:d7640d21-4c36-4534-963b-7a6811dfa667 phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6ae170e8-3dd1-4189-bb0b-345f3dd4adac phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:36189931 uuid:fc8d4316-ca79-4071-8e7e-64e512979a9c phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:2d90bb16-8b0c-4397-b10d-d9bf8a0ddc7d phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:6e642b86-89cb-4471-b917-a3b896687017 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:133b7467-8d58-409f-8352-06867d8eb1f2 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:18708660-6651-46b8-9641-0f1b77ad7700 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:d4252ef2-9bca-4886-a46c-4c9ccad19cde phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:98834b10-af26-4a76-912a-4b6fe6a77cae phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:39df231f-a4c2-4810-bf85-fcc018627eef phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0779d5c5-72d2-46c8-9c97-35088fab0919 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2af5bdd3-2b49-4738-b7d8-6237da5bd70b phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0e10745a-9c7b-460f-b554-922bd2210dd1 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:65be56fa-0b2c-452b-8c3f-b9c1814f41a5 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1ba0c755-65bc-4120-a48c-fee735aed657 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2ae1a528-4307-4e6c-ac35-73ea7b793907 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4653810c-06ba-46df-8542-e7e4904c5dcc phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:36189931 uuid:029a4623-dcdb-4a01-a7d4-ebc2fdee8246 phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:3a480f9a-6eed-487c-886e-8695f905b565 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0002350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:f9d3faa5-c417-41bc-b6be-d64e93f5ed73 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:e00229f5-8384-4609-8671-241290ef589e phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:7f980f30-ceee-418d-9e9a-75599932f598 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:75220849-ae80-4fcc-8e37-b6baa4685ab2 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:ccfac725-d502-43c4-9f22-b9723cafa752 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:21c52a14-c894-4a8c-a187-39c58e06ada2 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:f0ab4dae-1320-4626-8b4c-87a5fbdcc051 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:cc42faf3-dd4c-45b0-9f53-eb946db80006 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28258187 uuid:438ff0a6-0a9a-4da9-af18-becb27a900ca phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:2dc31b3c-8689-40d3-b4b5-5d4882d71169 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:230c3e20-ed7a-43ef-8340-c9d6a262ea9d phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:2c711e45-73cf-4b82-82a0-dab9af622d51 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:19893323-fe04-419c-9f71-0f91991d6b7e phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:77412856-b0bf-4498-bcaa-4494da0e3707 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:36742727-86b8-4e37-b954-692a3e740ba5 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:e718a41e-44b5-4985-a253-93106cfdb4d6 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:bbba7a3e-73fd-4d50-ae1e-4ee58c014a88 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:2f4e4e93-9ac6-4e99-b094-1315a51b6683 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a80b8942-c9e8-4bc3-95fe-3e9291d52f3c phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:f6cdd480-45d3-4b76-834d-a62720bcb7e0 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:61755b57-02c5-4b94-8579-378bf2658746 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:349ed6b2-82a9-43a8-81ef-d7777aaa8ea9 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:43b53adf-5d51-4abb-9cdb-a64657535be7 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:dcf5ebac-c8f3-4162-b860-0d13f3d37934 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:e5c6dcc6-a90f-4e4a-8c39-9c7a8c043522 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:5ef9b9a2-82aa-43de-8af2-9066acf30479 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:5174dfeb-b741-46c2-acea-5b49ec1d95e3 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:afddd111-9d2b-43ba-922f-5a8650d8408b phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:5001b02d-3487-46bb-bbe9-18b74d1368d4 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:4092a3cb-6120-43b0-87ed-3d6d3fe94f3c phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:cee1a1b4-eeea-4de2-b755-5bb1f647bb5b phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_phenotype HP:0030816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28258187 uuid:a47bee7b-3a69-4544-a406-16756eff66af phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_disease OMIM:618343 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:d4d86237-4bb0-49e7-8f57-a8ce7cc453f6 phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28258187 uuid:269fb6d1-5326-4238-b48b-c7dc8db9499a phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:04d5699a-3d17-47e4-b03b-b9b443591b93 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:cb82c204-cd89-4a35-9819-8f74e8a3f14f phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:1e81c89d-f1d9-47b7-915f-4a8880138caf phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:cedd1d7c-83a4-4d13-b920-9bd5fa3869a6 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:db101d0d-da6e-4bea-ab65-a19670c43aa6 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6ffaafcc-8762-45ef-9a11-f025be981d6d phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:816bb884-c038-4ee8-b775-a8aa5b61c69c phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:850160de-084c-4535-b134-64b4a2bc90cb phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:57699d65-49cb-45f1-9942-f66814c11521 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a0a6cee4-b420-4d0a-aa22-47428607cee8 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f7644ba3-dbb2-43ef-9e00-25e02aabec2c phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f6c7228e-b4f8-440e-be65-596d9bfb58e0 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:fbe6a991-69d1-49bd-bb3b-5157d32f4efe phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P15D infores:phenopacket-store PMID:36189931 uuid:ab3ff6d8-f07b-404c-ae7b-98deea0bffa0 phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:cdc8d6b5-4a5b-4ae2-9ac4-85da74623d2b phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:e3d9edd9-b141-46e2-b442-052cbb7d813a phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:a40b39e2-666c-485d-8d89-644ae7a380cf phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:cda15ded-26a6-4944-8ea9-01b199207657 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:5f4f71e0-39a8-4018-9f84-32e3ec3040e3 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:9fc16ed6-ac97-436d-9afa-3e321da15179 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b7971c37-bac4-48f1-b526-044407ca80f2 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6a540850-dc5b-4a7f-9ed3-c8a2a92e3ae8 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ad885365-91ae-4f3d-8543-014efc448db5 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:f8c74f5a-d954-4548-b4cc-42c2cfa21f13 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8ce0aa6a-109e-48da-aaf8-5541c27b6b39 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:22f68bf2-c99b-4cb1-b661-78957b9ecb5e phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b9f3c54f-5693-4692-a81f-1a2d06f14555 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:b673c4ac-b921-4ba2-9b2e-002249dada63 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:36189931 uuid:f583e02a-00d4-42c6-9a65-bd46bdc8b6c7 phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:ae5e130e-ecf5-4d40-8cf3-d1a625d95d92 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:9f1d9967-e1a4-4b2b-aff9-a51c03de4885 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:94ad2fd4-0184-4b40-a11a-586b2e890353 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:963cf5a6-c3b2-4947-86bb-0dfb4f647264 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ff06ffbd-7131-4605-9b30-a05a4b51037b phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:4dfb8412-41ed-4f00-b62a-cfe261e4f684 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:c4508cc3-d2a6-4991-914e-ab973d6f2412 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:337cdf5b-b19b-4249-8f6b-537e44f866d3 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2249f103-5f9b-43c6-84f4-95b6514cabb3 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:97148a5f-cf0f-4c4e-9749-79141d0e2ad3 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0fe6ebf1-1001-4a39-994c-76827b6e4326 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:591e1053-8b68-4302-8e06-6a2db45a5c70 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:77696dfd-2993-4b13-9102-c3e255505538 phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:36189931 uuid:c807238f-44f1-460f-a0c0-b55ba883b61f phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:beb7e44b-de8b-4cf9-b5d3-79b76fbed1e7 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:1787ff03-2fc9-48f0-8720-181e201914a0 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:7aa599ba-6852-4b16-a5a9-403b3caefe65 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:954d9f50-81b4-483c-bf7b-7b2f75807003 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:01d9e5bb-00b5-4b8b-ad7c-92dec22556a3 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:abbf5819-2d86-4394-a4d7-49be6a9c72ac phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2d6341a3-d976-475a-af0f-5a721ab14a31 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:60931e85-45dc-45c7-b7d5-6568a48818a0 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a94576a7-1de8-4498-88f2-f58ca43b0c80 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:4fcbbb22-2644-41e9-a0a3-895192bbfe68 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:404877ea-0242-484a-9e7b-1e0bcd7ab63d phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ac3d06f0-3898-4bb9-a8c5-4dcd8ccc6332 phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:bbecd0c1-7cf9-4737-92e8-6214be57ef4d phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:694bd77e-0949-4f31-a4bc-88456ff811cc phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P15D infores:phenopacket-store PMID:36189931 uuid:01177229-8a4f-4c80-95e7-2571672e8a5f phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:f7a2c874-e80d-44c6-805d-d8a5aa24e5d2 phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:05e52f5f-f88b-4345-8793-b1ef7f4a9065 phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:ace8eb8a-0034-4e44-8921-782e222556df phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:edc4d028-14fd-470e-aaad-8e5800ab3ba8 phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8f98692a-04e5-48b9-b9f2-94fb0a29892c phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:16b258a3-ea9f-4b5a-8bbd-53a12f79938f phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ea8fe3e8-7be8-40a4-9d2a-3362a84913ba phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:10fbd685-a77a-4f8d-bfb6-dc87e62218f5 phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P26D infores:phenopacket-store PMID:36189931 uuid:265b4fd3-ca8d-4d70-a66f-5332c6cbd9bb phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:c48b262a-9647-4195-a1db-a4060234497a phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:956ba48f-c9b7-407d-b1fa-72e16b8ea75a phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:af592f00-074b-45f9-87de-7b4e21455ad9 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:98c09234-4a94-4580-bd12-ff7242132ecb phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:b0011f9f-17c7-4f8e-9750-4c9bebc24a7e phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:df09d5e4-9a3e-4828-a9ce-6b4fb75efeaf phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:fedfc0e4-310b-40f1-8792-bacfc4d36e12 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:abbedd81-a271-4dc8-8219-890c05a2e716 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0100718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:33d58428-daa2-4ece-9826-1fa54e6aa29e phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:764b44cd-0658-4108-9c19-028f90f6a539 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:2419e8f3-f3bf-431a-b28a-3c44707e1d60 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:8b8d87c8-7d65-409d-837a-b3724f29a8e6 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:be367284-6e6f-4058-ab4d-b2dd1b637f2d phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:a603b6b7-4178-4e62-96a5-b163cacd38fe phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:14bbee97-a5ef-455d-a3af-ea1798210273 phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:36189931 uuid:520d904d-9a24-46c2-a704-45b382cd9caa phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:e4a7b212-be8e-4cbf-bbcf-225233925e1b phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0005294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:caaea8d0-bd21-447d-af48-dd9d8a5fda2a phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:5a39e554-ad4c-4424-b204-39fb9648b694 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36189931 uuid:9ed1a03a-0cc8-48de-bd77-52dfae822030 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:82b6cdb7-201e-41e3-949a-542217fa0eea phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:0fb034de-91fc-4b53-b602-534fdbff7de6 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0025019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:c841f9fb-fcb7-48ce-b456-48bb44694af4 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:12e6166e-97ea-4c26-b362-8cf9acd0ee64 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:6916ed8b-2c25-40f0-be2a-187eb1701ab4 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:ac2104c0-3c95-400b-b800-7734c6a51f1b phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:7569ff90-42f1-4710-a845-d5fa07b8d751 phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:e7271ab9-9d77-4c89-a505-dda96343749c phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:bd141b95-281d-40bc-89ea-23cd67ebaa6f phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36189931 uuid:845661cb-e589-48bf-9134-50b04dbdecab phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_disease OMIM:130050 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:36189931 uuid:ac897cfa-931d-4ebd-9be2-b731db2ee89f phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:has_gene HGNC:2201 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36189931 uuid:664b98e0-7634-4e34-8a63-7bbad636d1f7 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:38572164 uuid:712f63bf-cd78-4956-8384-f02ad2de4ea3 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:38572164 uuid:52b756e7-1b48-4f85-ad48-1fc2e8c28ad6 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:38572164 uuid:c02d18f3-d1d6-40de-9638-e90472f6c2fd phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:38572164 uuid:6161167e-6885-49cd-85f0-096c7a6719be phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0012499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:38572164 uuid:848fc248-225a-4417-b5d7-2dbf888def7b phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38572164 uuid:41e32da7-193a-4c23-827c-9607dd4d251e phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38572164 uuid:dc2b1a74-dcdc-4e70-b447-139b4d4f11e5 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38572164 uuid:e1363b00-2958-4408-9d73-452c1b05ed67 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38572164 uuid:baca682e-bfa1-46eb-a30d-ba10cc3afbc4 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_disease OMIM:130000 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:38572164 uuid:30cbd501-6e01-4440-b610-0b9cecef9840 phenopacket.store:COL5A1.PMID_38572164_nan biolink:has_gene HGNC:2209 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38572164 uuid:43a25789-26f5-4f08-9ff3-4c91b5720bdc phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:27656288 uuid:37d7ad97-1654-4911-b70d-4a801555d155 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:27656288 uuid:c3f1f665-a965-4359-926f-0b57de917ed9 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:27656288 uuid:b218c437-4f43-4118-b7a7-99a8be37b018 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27656288 uuid:d429f3c7-0f25-44dc-8493-2cc9557fb608 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0031370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:27656288 uuid:24af3fae-41b7-4fb2-ac98-f8cc84d17ed9 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:27656288 uuid:96ce6aa7-7c51-482a-8c28-bc65a20e75ec phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:27656288 uuid:f8ade423-ead0-4bb8-8813-840c0aa9817a phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27656288 uuid:3a70d726-d408-42bd-81ce-1630e377ad2d phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27656288 uuid:95965ef0-0cdc-4ff8-ab58-4e40b226a651 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27656288 uuid:e767e387-7542-4c8b-849e-8a06222bf0a8 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0031158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27656288 uuid:4ac1fa84-2884-4b41-a2a9-7ca26eba625b phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27656288 uuid:4983afcd-3700-466b-9f9c-74c7b6d857f0 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27656288 uuid:488eb7d5-7b63-452b-af34-dfbe8b5aa976 phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_disease OMIM:130010 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:27656288 uuid:c25ff88c-94b4-43bf-bf25-9bb7779bb52d phenopacket.store:COL5A2.PMID_27656288_patient biolink:has_gene HGNC:2210 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27656288 uuid:7c7c7ac3-d1c6-4497-af8b-9e6fdf14af0e phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:5491c4c3-87ad-40c5-ac3e-1455ea65f131 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:d16ebb7e-3417-4518-bcce-8b04ae1dc51d phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:3d18822b-b342-4e8d-91a1-2ae4fd00ece8 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:68748cbd-4413-44ea-90eb-994cf6c4626f phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:7d49b228-384f-41b8-ac8c-841860661094 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:76f021d7-ea50-4853-8483-13cac42c9074 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:1f18142b-ae77-4b1b-9daa-ec3134c55ee9 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:d43f2139-4308-47f4-85dc-56ea985a7265 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:6f1d3923-9a35-4fb7-8b5f-bc97cc9cd3a5 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:e2ae58f1-50b5-42ee-a7e1-ed2e333abef3 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:ca66f97f-a0cd-48e1-8b99-7e4123a85e51 phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:3577aa82-611f-4ded-aae5-2e9fb7bc1b7c phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_disease OMIM:158810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:062358a6-0a14-445e-85a7-894a7d388bbe phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:has_gene HGNC:2211 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:fb31d328-5ff0-4870-b4d2-eca8ea1520d6 phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:c7001e6e-df35-442e-b176-f3d55a21fcdb phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:70581f66-0b37-4fa4-997a-23bbfb8b659e phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:ed565e9a-c53a-4c73-8d5e-a089a39c3f29 phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:10e385ae-fa08-4177-8349-c018088ce3e3 phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:0309f619-68d8-41e4-adb3-4395234846c8 phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:bff4f358-3569-4290-bce3-5a6407e48784 phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:364402e6-8276-4012-a02a-f51302cc206a phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:fd1a7589-3123-44ca-893e-cfdce8531b6a phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:68341bad-572e-460c-94b1-d96abf48c7ee phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_disease OMIM:158810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:884d24a3-2fea-4b51-8bce-b0a7302f2a19 phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:has_gene HGNC:2211 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:5f2f842b-9f47-419c-afdf-9d65d125f638 phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:b2e3bb9e-2965-4ed2-bbe2-3b5ba7efade5 phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:0782dd73-eab3-49e2-8d9e-e269be5ae705 phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:5fa49a0e-3d8f-4d40-b41f-ad76932dc5ed phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:9fb0c311-af36-4391-90eb-b87414f00f6b phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:782c9cae-238a-40dc-93bf-d17e7eebfb0e phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:9a0749ad-845f-4063-86d8-2595cc80d58a phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:d471f64a-09a2-46eb-a65d-0129ec7445bc phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:1242a1ff-24ab-4a72-968d-230a91d9ccd2 phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:094ef05f-5491-46a9-a82f-7eb641251af5 phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_disease OMIM:158810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:1bf1d54b-92ea-40de-86bc-ad02629e451b phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:has_gene HGNC:2211 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:eb4ef47e-f0ca-49e7-a444-c603ffc538fe phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30808312 uuid:916ef0e8-fc97-474f-8d7d-5c2e222e553a phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30808312 uuid:5df302ad-6245-4d52-90a6-1e3e102207f2 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30808312 uuid:df1cef56-e736-4add-a650-c04c59e72aa0 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30808312 uuid:2172d9f6-1a00-4ecc-b913-ec5cc317f689 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30808312 uuid:86981285-063a-44b4-9ff6-8f886fbb7d0c phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30808312 uuid:ef587e60-77df-4e4e-a73c-83563bbcb3c1 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30808312 uuid:f46c208c-900d-4097-a761-c10ee30b3921 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:2c827d73-6d40-42d0-b00e-3968c060af69 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:42dffca6-2b7f-4d9c-904d-7496774ac6c8 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:631cca3a-1074-4cee-9638-c648d08a2b69 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:6f0fef52-a9fb-4a82-99a0-95f978f516b2 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:17305544-f06b-4a05-a79a-2ebfdc1710ce phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:a929e3e5-ada3-4400-8151-d3b53ecc9a6d phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:f8eb428f-af69-472c-a2c2-dce9bcc21a24 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:a8667aed-d07c-45d1-86c7-a4b84a747789 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:7b3c5fc7-d311-4e51-8675-1ef8fb2cc55c phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:775a4459-685b-4c3d-95b3-f74359ee3df0 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:08f10db0-3d7e-4922-8f12-d758b91d0d81 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:9f112d9a-8817-4b30-b7c0-c19f8b7084cc phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:a592112d-b9d9-4a79-b2fd-56742e4bbed1 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:9317e1ed-a8c1-41ea-a252-c20097eaf088 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:3fe5d932-815f-4479-8308-5d70aa3f1386 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0007502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:a14c2a9d-b05d-4dcc-a110-8bc4e2ddfa47 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:30808312 uuid:2c339aff-7bf2-4ffc-8fb9-ab51f4735e55 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0031910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:96ec02a5-ba32-4222-bfb1-ebcd50e07a08 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:8dbb6e0d-be08-40b9-8818-8a345b6a4576 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0040129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:48fc6716-2911-448d-bbe2-450a26d08d64 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:d52a075a-4598-43c5-9af6-033f0c7dfefc phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:4fbdc2bb-cf56-47ee-b3c4-8fec4075b111 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0003115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:d12a1d99-21c5-416b-8928-5270465dc444 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_phenotype HP:0000988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30808312 uuid:caa288e2-8002-4318-94e4-0d96099e2a47 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_disease OMIM:158810 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:30808312 uuid:dbbcc4ad-6d28-43ac-a5bf-d60f78ca5da6 phenopacket.store:COL6A1.PMID_30808312_patient biolink:has_gene HGNC:2211 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30808312 uuid:4b66c689-3d00-4fa1-bd5f-6cc2b2362dea phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:16075202 uuid:788d2a5f-25c8-4817-8a22-3b1b627b5258 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:16075202 uuid:024e85d8-dd49-46a0-a95b-3880a8145bf8 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:384a2dac-2040-4668-a45c-b29f691c1a33 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:de7f81ba-a4ca-4fe9-ab28-dc176348b13c phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:8b6fd4bb-e0fb-4518-afc9-b54e72b526b3 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:c5278ef0-9271-4292-8a2b-9762a494cfd4 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:43fc15c0-9711-4171-9f34-4fbc39d6dae6 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:cd2d377b-d2d0-4fd5-a7d4-228447eac3f5 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0030095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:122f7820-1d79-49d3-87b5-271349c9ce2f phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:9f3db815-f748-4390-a175-26f207de4dcf phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16075202 uuid:f5677cb7-023e-4336-99ad-006049344b9d phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:678b10d8-8d2e-464a-8962-4ef58b7838dd phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:284b9615-d3c4-4bee-a490-08d165277c45 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:0037e3d6-b8ab-408f-836f-08416bebc5d8 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:ec5b574d-5e57-4f2e-a675-3384870e823d phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:c7c3718f-7a79-4acd-a65d-aa1824864105 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:7e091c01-7269-44ee-8f89-c6f3ed9adf71 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:47a4059d-6186-420d-b9f4-e71eea74aeb3 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:bb92d1aa-c788-4558-94bc-66c9897a6cf7 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16075202 uuid:3372d10b-32a7-466e-b5e2-8d6b4d6d9eac phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:16075202 uuid:307a0661-fbc4-42ec-afd7-1f8e21f33832 phenopacket.store:COL6A2.PMID_16075202_propositus biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16075202 uuid:826cfd00-1c62-4ced-9aa3-7cb34c3caeeb phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11381124 uuid:b631eea7-70f4-45c5-aa0e-ce355d3af5ab phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11381124 uuid:be9dd70d-d2c2-4227-8398-ba0702c0bc95 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11381124 uuid:73287b74-9fc0-48ea-97ce-9142b12b4cb2 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11381124 uuid:a8fa2444-3141-45af-a6a6-08d640d452cd phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11381124 uuid:dff79152-f3bf-42b4-9272-4137ac48b088 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11381124 uuid:d1cfda32-aab9-49bc-9967-38860e35d41a phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:c154e348-f69e-4964-b6eb-af7b0ba05fcd phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:b7023d0c-f5ca-4064-ab28-8cd023e73de8 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:e91cf618-e418-45b8-a1e1-97a03234a390 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:56225d02-1988-4c29-8d50-0ad4c22f538d phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:83df8cb1-f38d-4b92-acac-189edfb1c4d2 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:11381124 uuid:92f90387-160a-4f95-8416-ec8d1abdae2c phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:f2f4cd2e-54db-4ba2-bdbd-6a57f2a0d81f phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:5ef4027e-9b6b-421c-ab77-a7a66184d8df phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:5db10852-0ebd-47c7-a960-b6683b076123 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:b743cf42-5ed1-4143-ad2a-e241dc0d40b7 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:c283374c-8f99-480d-9c2a-9db6ccb0f045 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:2b9e9551-d216-4257-ac66-e18936c8e7b3 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:685e00a9-7bdf-48eb-a08d-6357541cbc3a phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:a9e05048-8aa3-4f16-9f1b-b33813fba5fc phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:36ac4a93-1782-44b5-8e69-9b61f1f74b91 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:16b6f8e2-76de-493a-82bf-98dde06cb808 phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11381124 uuid:21b66cb6-ee0e-44e2-9c64-2060f818b9fe phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11381124 uuid:d2003a13-b9c5-4f6b-b167-a3e0c9b2af99 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:260cf951-cecf-48b8-bf09-8d4c7a1ed3d2 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:3af8737f-5e56-4e71-bc87-e8a7cf977cac phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:fe9cf5dc-6ece-4d11-a104-52051e60b277 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:d0705216-ec42-4f2d-9bcd-a3f80ab503fd phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:d3bd4725-cbad-4811-b309-fa2a526ef7a2 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:345b6a89-fd6a-4fbc-b929-29c72f3ffd03 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:3fb951aa-8911-4571-946e-2707ab118379 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20729548 uuid:2de9837b-0f51-43da-9119-fb32d0d96a5b phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:34f2c449-a53b-4075-a6c0-5767fb4d1d60 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:a196d801-6a20-407b-9023-0a68b9b5196a phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:c53ed381-eceb-408e-969c-a4954ae48719 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:363cb37a-191c-4ed4-98f4-e950682982fb phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:ad9014ab-8066-490f-a507-6f8dce6ee079 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:d0f950e2-bc8c-439b-8da9-4d2e9273a58b phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:6c21bd78-8a53-436e-a874-afb65d33dad2 phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:7ca37777-cc92-4e29-bf23-bb540fc9d3be phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:44420fa4-2ab0-4db5-9767-f92bbb38effe phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:134ebc13-0860-427d-891f-521ffb6d9c9e phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20729548 uuid:edf9daf6-4337-4fd1-9b85-33fbeec5391a phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20729548 uuid:1600ed61-706c-43e3-ad15-034a262ee1af phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20729548 uuid:e7d1a209-ece2-443c-8b27-efc78aeea0d4 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:bdd5fcfe-83ee-4320-957c-de395337f6bc phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:c3889284-d230-4154-bbea-cfbc9159b9cd phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:7a4fd85b-4e18-461e-9507-d9696a03470e phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:80dac897-59fc-40f2-a160-cff345821499 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:040c1c5d-d953-4add-92dd-a7c6164842b1 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:b9acb22f-4b4d-4842-a438-1bdfa42b9b96 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:d32e8eab-40bf-479d-8821-773aa32f83e6 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11506412 uuid:e66b24f6-9699-47b9-9dee-da11eb748c11 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:e7ab531e-99ad-42fe-a614-27c33f7ea2eb phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:be7257c0-d104-48e7-8127-3f5707390bcc phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:d3e8cc95-5727-43b3-bf18-5885fde58d59 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:d00a61d4-6020-4c1e-a2e5-ce9d5c379b3c phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:00157954-a10a-46fb-a5dc-93ed7521ebdf phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:c9819c55-718b-44d6-bbb1-536733fde6d3 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:ac0bf1b7-adc5-41d4-a826-494376feb2c2 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:747c00ce-1409-4020-910b-fe4301466566 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:a59b9b7b-ce15-4aa6-8b60-4da32b683db1 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:d1ef426d-9ccf-4e6b-9b37-b32e7552d0d5 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:d1728fb7-447d-4fbd-be7f-6af1b4a818e1 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11506412 uuid:c657a233-ccd9-4c55-a72f-373b924d7d69 phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11506412 uuid:1093cded-df3e-4ded-b8e8-f0789f449c8f phenopacket.store:COL6A2.PMID_11506412_nan biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11506412 uuid:b0b9c8ee-aeee-410b-b422-b2375114cc41 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:6d0262d9-31e3-4f6b-80cd-b86146aa2191 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:55aab3ea-605f-42df-b6f1-fe587a94f8a2 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:3142e99e-3336-4864-9ff1-a7e5df42e0ee phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:112a252f-5bf4-47a6-9a4a-40b00f6436a3 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:2868947b-33b5-4c57-8832-ab8d7840390b phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0034665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:eb7cc174-aa11-4cad-a2ef-5384eb7fb997 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:168d995b-9fc0-4840-ac22-7e23d622eb9b phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:1c155364-a330-4855-b6db-051ebda2a7f6 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:edf0e851-d946-4703-bcc0-f7504c2733a7 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:a9877ff4-5757-4fc9-9e18-3f2593663194 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:fb7f7bd4-cfca-44df-8427-10a60a1b593f phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:1a8a9e22-3287-4dcd-afb9-5dcdbb45d787 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:c37d7fd2-9f5a-422d-a351-205f5ccfcf01 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:683fa7a3-8fd6-42a4-b157-7f02e83c0e73 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:eb1932ca-6095-4d5e-bcf3-d4bfbf67213a phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:a3df44af-81f7-42e3-ac05-2f18f55a75d7 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:1338c274-92ff-4c5b-a0ef-56e72db910bd phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:4ccc98c4-e498-4dfd-8681-51b334e75e23 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:d85c4e78-c119-4852-b371-a7a5f419acff phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:f5508f9e-4d5a-4925-97ba-0c73d8928e79 phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20106987 uuid:4e6e40bb-b077-48c5-9d27-8439ed4d58ae phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20106987 uuid:f36037be-5847-4ea0-8c95-e1f9c8dd2914 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:20106987 uuid:018c7346-732f-44fe-9fe6-9e151c230dd2 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:20106987 uuid:e6acd015-4246-430e-a4dc-5bd4164f8ac7 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:20106987 uuid:7b6c4c07-464b-4f2d-9713-db17d445247b phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:20106987 uuid:29be4def-dc7c-4e7c-a9cd-ce6dbaf6ba1e phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:20106987 uuid:1c213fb5-9747-4f2f-a1ba-f9077ac27914 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:20106987 uuid:13bf3295-ed18-4f2a-a45d-60ca66115443 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:20106987 uuid:a7aae572-d56c-44a1-b56a-4a37301eb46f phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:20106987 uuid:1e6f5eef-8416-4016-99c1-02df0f7c7917 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:20106987 uuid:4bb8e023-475b-45d4-90ff-2f7f9689b2d2 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:20106987 uuid:18c8ef28-b339-4308-aba1-69526e97b63b phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:20106987 uuid:aa3b5765-1552-4db3-9a85-c2d8fda91d99 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20106987 uuid:57127c28-8520-439e-a962-6efe0148f868 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:1e8d4af8-7334-4f69-abb2-83b73292dfed phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:9d0a216c-9c5d-4f5d-9276-89df09c01e9b phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:344b3428-300b-4c39-925a-a955d6bdc22f phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:eef0d602-7f24-4b71-bb3b-d1bc366f776a phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:6365d92b-e86e-48c5-858c-b1e9d1122d4f phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:99ead604-b556-49ec-bf84-e8e478bf086f phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:6ae1963b-f56a-48ba-84f8-4c2b84bfb66e phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:254eedab-badf-4f2a-af0e-6c633a589b6f phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:7b7d57d2-7226-411b-8763-9069fcde22fa phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:c9d6b6e1-5a29-466a-be12-ddca0c5b381e phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:ab7d67c8-0970-4fc2-96ec-3243d9b6b431 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:c42c60f2-2ef9-41d0-9f07-cf935b265494 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:003211b1-82b4-4b47-b926-97515e0d3e8d phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20106987 uuid:3cbd63aa-6e0f-4ffe-b302-7541565ad455 phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:20106987 uuid:056412f8-32f8-48a1-a5f9-0a894002e15e phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20106987 uuid:46638f27-33f8-4b2b-bf4a-bbdab951cd64 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:9c74358f-6bd5-4f7c-b335-6cc62746e92a phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:d245c90d-459c-4931-8d8a-cc7e9d9c76ab phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:2b41cf6f-e1a3-4e97-8d21-66445693afd6 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:da6e6b68-fabd-4609-99df-d4e327b4cc62 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:b4390d45-f89f-43fd-8b82-c10bbe3dfa09 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:70031a85-bff5-4ab7-a55e-32c12def4637 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:bbf06981-9b54-4e96-909b-72d603dfba97 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:f4d7b08c-75ac-424e-b141-2caf6770ddf8 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:9801b8eb-51db-4ff3-8950-db57975562a3 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:dd3ff287-7f6a-4767-a610-7447ad14e8d9 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:88e18ec4-e944-4e0d-a8d2-f5c1a8f19870 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:1fca7b9c-20d6-4a32-9248-567ce9aeead4 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:187355ab-6e9e-4109-aa43-59604bcbd1b2 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:2f586524-2d26-4e2c-8569-ed028299956c phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:5c63e700-8016-405b-be76-e47faede594f phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11381124 uuid:691f1f00-b2d8-4067-8bfa-cb1b39efec93 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:11381124 uuid:0d8058eb-65fd-4d56-a9c1-6e9d6f667b4c phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:11381124 uuid:0ca46c4f-4672-418a-b1c7-2b0a24e0399d phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:11381124 uuid:2010fd8c-266a-46c3-9d4c-b1e503436ca7 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:4160fb9b-86f0-4545-8735-419dccc4ac69 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:dd9ac5f2-80c3-4362-8a88-459fa4b781e6 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11381124 uuid:5009d09b-b103-4b24-8dd5-79fc9286710e phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_disease OMIM:620727 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11381124 uuid:99638bd3-02fc-4cb9-822b-7530bccedf54 phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:has_gene HGNC:2212 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11381124 uuid:b5cd34f7-5ed8-4671-898a-9b6d7a0611dc phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:b3f48f2a-3bd4-48ef-ac34-b8b5554b03f3 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:0c239313-0a31-4894-8ace-f3e532e8dde8 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:af67d530-3bc7-4987-938e-988f21f82f72 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:cca51f9e-644c-4b09-88fa-37dca8370ddb phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:1c3865db-9d99-4ecf-9c9f-e81acce3c331 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:b87c0ea4-e544-4e92-8363-d4d0655f77bc phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17886299 uuid:104c81b7-9b0d-460c-9dc7-6d21579dcba6 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:d989deed-e4f4-44fa-aeaf-ac25a6b5e7a1 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0003115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:47473085-02b6-459f-8a60-6abdb97d297d phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:1154915e-8fa0-43e6-8da2-23eed9afde48 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:44a73b90-1c7a-4228-9bd7-ee096f54b8e4 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17886299 uuid:4968e4b1-8587-47a7-8546-f5e47bd62e70 phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_disease OMIM:620726 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:7e1a2622-8484-4b8b-ae1f-35854816e04c phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17886299 uuid:5d22554e-6790-40be-b396-310dac5589b5 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:517de0e9-fd05-4454-a3ea-5625ebe727dd phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:8c1c0aa1-406d-4f5d-816c-bc29499a1efe phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:8f6d20d8-b8e4-4f7c-9351-5ed87988cd3f phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0003749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:7814e0c4-67cd-4dcc-8489-981d26729994 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:4e3fa796-97f9-4758-bbb7-9bc538590881 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:cf33a3a5-5893-44f9-a8cc-8b3b5d441a5f phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:bee78293-9b6f-4b3f-a311-165d468f0cd2 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:059d826f-32c6-496f-a845-007d0d6728b5 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:4dba29b4-f56d-494e-9fc3-b2bf7e199f60 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:01922f56-2ed0-4d8e-bd4e-4ea93b07d326 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:77e99bc9-7bf9-4edc-8978-65475071115b phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:c2d23d58-7e92-4305-a91e-b43727ab1526 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:aa9e8a53-3313-44d2-a1fa-d6fb82d17afa phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:d8747ef3-51fe-44a3-9a9e-839865bb9d4d phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_disease OMIM:620728 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:8a77ce87-2e95-4c7e-b14a-50548f98b6f4 phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:97ff2d2f-b766-4c69-a2b4-98b90afa5fc5 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:d03b56d6-a409-4496-8eb2-6e4fe2d8e9f5 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:cf4c3750-cb0c-4d3f-bd16-38ab40a64fe9 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:e739c3e2-4f21-41fe-bd40-c15795bd7873 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:f53cca51-083d-4f4a-a339-d24ebe46301a phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0003749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:e78fa9ad-0b51-4e53-bab9-9c6e1d3be1e0 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:5fc4e16e-5caf-4a16-9dcb-dfd29fd9485d phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:3f0ab040-5118-42e0-9d86-df52e9ab5e8f phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:e4409630-6640-4cc8-8a54-b0dffd164c99 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:561dd9d8-2076-4054-a1c2-3b543b7b0807 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:73c1dc92-2939-4bb5-acd3-541b8950de3c phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:dfcdbe4c-f96b-4ed4-b183-37df7c1d110a phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:f5e97297-80f3-49e7-a6b6-c5911f25acf7 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:ac9a1cb1-3223-4eca-b125-82d46b029a9c phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:da2a5bba-cc9f-48f1-bd3a-d91a48eb8466 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_disease OMIM:620728 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:cfe6b8eb-414a-4904-82b5-4192c5304218 phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:fff36fcd-0b6d-4431-bb4c-4b60561aa191 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:fe154230-4e7d-4b3f-8d78-82d92a4ddc75 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:6850b7ff-9277-4147-a6b1-cbbf4cbdd33a phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:e1473812-4f52-4800-85be-630c018626af phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:63c2bcc2-a0e0-47fe-97a3-c1d6e9594021 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:a6f189fe-61fa-48b9-9d94-cd23348907db phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:ecc0a959-7fde-41ad-ba48-2948e9d3d5a9 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0003749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:88bc66ae-2aad-4fe7-86fa-6182cd6d9749 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:c127c59d-20cf-4444-9428-7d78a0fb99a7 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:0d73654c-e2df-479c-9040-a28a96e8632b phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:420008ac-27ad-449b-bd5f-b8891e91e1c3 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:3279ba1b-31d2-4b47-afdf-bad80b211f03 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:f55616a4-30a2-456f-b801-4b0a703c71b4 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:2756c627-962f-4697-8265-190e2a0e737d phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:04da87e7-6dea-40a4-bc54-c2512baf2009 phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_disease OMIM:620728 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:6e481d3a-056f-4e9f-a2f1-9b7700ab001f phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:e1167a46-5edd-495d-866c-a89b4b3689d0 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:d8c4920f-5bb5-4977-bc16-e980bc8c2efc phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:17c2fcce-bd47-4cba-8215-8beee8b557de phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:be29ff92-9d41-4872-91bc-33f404e2d21e phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:f56dfa3a-d4be-437e-9a0c-27c942f11bb9 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0003749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:1a2b5521-91a7-4877-b2e4-11caed75534c phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:8cbae94f-dec3-49f0-a510-05da0f41da53 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:61626d68-9779-4e8b-845e-7859ee8bbdb3 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:4526816b-dffe-47f8-afff-bd1a86d8a1f0 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:4abda47c-d72a-42d6-935c-6827e940c3b9 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:89ea3a07-b749-4a81-988a-332882e26326 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:216c2448-d168-4689-a600-b1f01a55c60b phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:3f6583de-80dc-4512-a5a2-374e4c669a59 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:0eed03c3-c50b-41ac-8ee6-fcf5ba8948c8 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:6a0f54b3-7181-4308-8796-ec1379ff64ad phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_disease OMIM:620728 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:8431ca52-04be-4bf0-ab76-0133333995f5 phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:c4ef444f-9dea-42ce-91e9-5c63c0eb318a phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:36779064 uuid:d9020a89-6371-4bcd-9e45-dff12b2466bd phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:36779064 uuid:e788033b-b7e0-406d-9ff1-49d4e603683b phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:36779064 uuid:81f37622-ed39-48be-be0a-f671f2a7a8fe phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:36779064 uuid:18fb5e4c-b9de-4d1e-97b3-8e619794e419 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:36779064 uuid:17018158-b01b-4627-bb6a-e9b4f35e841a phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0030664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:36779064 uuid:84095e93-0d76-4bd1-9fd5-8c0c002b4362 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:36779064 uuid:b584ac9e-28c1-467f-a289-e64fa9597a16 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:36779064 uuid:874426da-2e3c-40f7-ab52-87cef323981d phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:36779064 uuid:5ea0668e-f499-4863-b991-a1287ff94c48 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:36779064 uuid:3047ab78-73ea-4ac0-812d-374f8d3cf73b phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:d609e71c-4680-4c50-ab26-57f7e0cb1c5a phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:4bcd9695-a69c-4a9c-abb7-86613e14ffde phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0031910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:2ecd3806-fc3d-4930-95fd-596c0c7c974f phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:2b941f6f-6423-4d79-b334-4c0e9f2b5afc phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:ac49e85c-0b17-4aa2-a503-d07d960accc5 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:4694b609-b788-4892-acbd-d567c17f027c phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:859a63e5-255c-4481-a212-14ad84d4dc25 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:6d906ea6-4f77-45a7-b0f6-5f7e7c1e1888 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:68948744-ee9b-4486-af84-2174bbfe4779 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:5cf9e64d-727c-4c9c-bbe7-2fbc4669cac9 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:de597842-0a93-4ceb-a384-33055166c147 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:86face37-45d2-47b1-b051-69313279e900 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:bef660b2-eafa-43a5-b23f-c9c9541cde25 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:596da22b-b30c-4745-82c4-1909e1d7baa5 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0003115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:0c5c7533-ac1e-448a-bb13-be3d39890932 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36779064 uuid:15d363c0-2e28-45af-8d12-9045cc50c441 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_disease OMIM:620726 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36779064 uuid:4639f699-d473-4016-8538-d4910b9455c1 phenopacket.store:COL6A3.PMID_36779064_patient biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36779064 uuid:47c293cf-eb12-415a-b6ff-2fff046aeebd phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:bffc5d7f-1cff-492c-841c-972cb0717a94 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:59117421-691d-47e4-9f30-d298c239ae35 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0003749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:c39b90a4-aca1-4abf-b16b-dc8d0ee3f6c1 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:70110f20-c13f-46bd-a729-0b91c168ff77 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:c4e935de-e96c-4f63-8660-f061f44d7c33 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:0d2ddab8-ccba-457f-9b55-1da61b5cac19 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:607fc62d-63f1-402f-bb34-7453a87df1bd phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:97906c70-57dc-4a3d-914e-51a203f451d4 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11992252 uuid:55a91cf8-52f2-4bd1-a1e2-8d9a974c8aa4 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:290b7c41-6ee0-4d32-ab89-eda9f6423496 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:2cf0f505-a7e1-4d1e-976e-b2f2b1dbe4a8 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:efcba585-2379-4af4-bb98-4b8ce45d68a3 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:4b12dd3e-a61d-42f5-b76d-3729364b0f98 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11992252 uuid:fdbd5240-e96c-4867-9f78-e893d0bab076 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_disease OMIM:620728 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:af590bec-b6c2-4885-89f6-3b8a750c2250 phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:has_gene HGNC:2213 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11992252 uuid:13833ba5-0a7a-47e2-a7b7-30f21308ac3c phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:7fab5687-a01e-42e4-9224-3cc3ef8a7212 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:de8dfc1f-af19-4668-930c-191bb86d20d5 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0003183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:88e45d82-8a2d-429a-aaf8-8ef0a8065e33 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0008833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:c1e789ad-9dc2-43eb-9bc2-617189111326 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:ac42c2f1-61bf-402e-9661-7ef6bf558a67 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:c9b7bcf6-d9e7-4aa7-b78e-b1f957246e1c phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0008802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:d976fde1-a80d-4fd4-8361-96395b1fc9ff phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:0514c059-eb8c-4597-b762-e77c40025dbf phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:2cb415b6-3b35-40ee-b26f-454d684931d0 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_phenotype HP:0012514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27330822 uuid:15f049ab-6cee-45f2-bd10-1dde144da9b6 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_disease OMIM:177170 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27330822 uuid:083ae79f-9504-476e-aa6e-427a1f9c0e28 phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:has_gene HGNC:2227 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27330822 uuid:32261f77-5cff-46ca-bfb2-484612b03d92 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0010582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:591f05d2-2bec-4c8d-8adb-921f7f9577fd phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:6d3a9d12-54fb-4adc-9ad0-fe5205b82cca phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:6a1ce32a-e3df-476a-bc2d-ba8589e96d88 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0002834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:7580a23f-cf51-47ca-9dfb-9079f571f872 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0001216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:1fc4f93e-b5ac-4dae-818b-584b435344a8 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0003025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:bccf5bdc-8d80-48a0-a87c-ca8c1acde33b phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0003180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:9e88967b-5c4b-4676-8665-4a4e88a00cdc phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0008833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:96a0c061-3101-4ab2-b341-986be80c69aa phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:5ddf1205-5442-4136-999c-cfbfc26bd6c7 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0003090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:adcf8ab9-98f9-4a2a-9a10-21713ea626b9 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:c185402a-738d-48c5-9468-3968307eeff0 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:561de6dd-a5b0-4abf-b4cd-4ce87aee2443 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:65bcf612-b4be-43ef-a9c3-2125c641aebb phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:23562786 uuid:31b53b48-da8a-433f-9e24-095d5a6ccc84 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0012514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:23562786 uuid:db191430-f8f9-4cc8-a74f-c03717c72778 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23562786 uuid:f2a6e9bb-043a-4888-9d4d-be22bd0757a9 phenopacket.store:COMP.PMID_23562786_patient biolink:has_phenotype HP:0008155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23562786 uuid:c412bcc3-1120-4a81-b3cd-403819fd5488 phenopacket.store:COMP.PMID_23562786_patient biolink:has_disease OMIM:177170 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:23562786 uuid:a12181d2-dd54-4061-9fbc-e74f137ad089 phenopacket.store:COMP.PMID_23562786_patient biolink:has_gene HGNC:2227 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23562786 uuid:b396b992-094a-4afe-93b3-27ac987e2e4e phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:31396399 uuid:500b9cf7-f3a1-4157-9841-382636a8970d phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:31396399 uuid:27f3b583-3f85-4e6b-b9cc-112389d6ea4f phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:31396399 uuid:d7fcca16-a7c8-4a99-ae21-da27a5c76bef phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:31396399 uuid:62f39484-4b18-4c20-900b-854fa11415be phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:ae66338f-8f0c-42f5-8ab9-636af522af31 phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:202dec45-6fe7-45a8-9da6-d32fe8591b48 phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:c1e0cbfd-3c33-49b9-9f18-264607202e81 phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:40fa46bc-205c-426f-a569-ab44f76f1062 phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:64b268e8-c44a-4249-aedb-34783e9e72c5 phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:27a0d962-22fa-4a8d-9c55-a4009f31d06c phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:3c2e0487-5f48-4c82-9cf0-c6fb2acf01db phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:0ed10cce-1324-40f0-a320-4521530c82a8 phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:31396399 uuid:c869cf60-2705-4b43-880c-a3abdddf672f phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:cf195a1e-cf9b-4e3c-8af7-1a4c7bbc2aa1 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:aa13f749-1d13-4c6a-8290-e7b456f79697 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:521e49a5-93fe-45fe-8583-66b92b6ff7c8 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:37a27266-43db-4dd0-9794-926fe7345dd9 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:11181196-48ec-4a35-a601-2d894dad1cca phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:0277e8ca-4b64-472f-9a55-49318f6a08a7 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:997efcdd-f7b0-4efc-836d-9ba5cd2d4daf phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:ed187b97-7767-4dc0-b813-aa6dbec7c313 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:1e054a18-b444-487a-bbfe-dc13a355bd66 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:092a3b8c-75e2-4e10-90c7-223507162c10 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:65b886ec-8763-468b-b033-43be457e3e2c phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:a6546c18-a39c-4623-8df3-9799ad14c30c phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:7e247349-efb4-4f5c-82ac-bf055182e599 phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:62c3e811-04bc-4168-9647-20a1296c993e phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:fa88cfaa-0109-4b60-9092-77098bbe7f1f phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:04c6e3b0-53da-41ff-8f1b-ea3bf888ee13 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:11ccb9e3-0e9e-420f-b8d1-666c05f07abd phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:d6c36c7a-5bd0-45df-b46c-d83c654b113f phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:d714e029-be7b-4617-9e72-80303dc3be18 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:48f786a5-0a44-40f7-b486-b831074310e8 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:dbefb2cb-edcb-4993-bc48-55bc78e1ee0d phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:49df6c8d-f1b9-482e-987f-16df6220e225 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:d6820a58-12a5-4895-b845-51561bd2c3a5 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:239f3849-0643-43d1-aa74-b9056172bd9c phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:85bfebe6-d40c-4def-aff4-676d55b1d40a phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:9c4bc381-440e-407b-85dc-815fc966bd36 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:31396399 uuid:72bc0b54-6f0c-4890-b911-55e889299002 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:26d3071e-4cdd-43d9-9496-7579b3e38e47 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:30659264 uuid:7be26598-4493-4fe4-a837-a88b748e44e0 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:30659264 uuid:50a03e43-0c85-4dca-a2bf-4ecb0b2c19c0 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:30659264 uuid:5ff87dae-1d54-48fa-a745-5401e72bc99a phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:30659264 uuid:13c5bd27-0c8f-46c6-ae72-e61cfa85fee4 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:7ef741de-8e01-4e68-ac36-56df63bfc1e6 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:5a2af919-11da-49a7-a291-2b241be2ebe6 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:209df881-d173-415f-a31d-3273c15eb270 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:30659264 uuid:15389279-ceb6-484f-aa49-e5d993d9dc83 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:0191563e-ae97-459f-9288-b031802903b7 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:a294b805-2cf6-4054-a48d-4518f1c99503 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30659264 uuid:4c631b28-dc8f-4d13-8f04-84abe0d1f77f phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30659264 uuid:01fb8fdd-0e3b-4c25-b0fe-456b5d446f43 phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30659264 uuid:2664c57d-16e0-49a1-9771-5e31a23be867 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:6fc9f01e-bf1a-4b16-8003-9027be168cd9 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:4dcb0e6e-162c-4099-8200-53f7c769a6b6 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:c1a26dbd-baaa-40f3-8439-29d32246ea96 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:80bbe908-b207-4921-8f39-05c90562844f phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:cab508ef-8c73-4bfc-9043-f818001eeb30 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:4946d34c-6d75-462b-966e-724a2373a423 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:4b4ea68a-cadb-4487-8660-580a11527a65 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:9f5f23f9-5969-4d14-9eb9-d8e98a6e0059 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:b5f2bf82-1558-4f4f-89ba-0a7091653b96 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:50e2c5f5-259c-4ab2-a6c5-9aa83d3ad412 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:7224abef-dce5-46ed-88ef-39a445abe158 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:5d5a02aa-4256-4377-999e-ef4625afc857 phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:73fee127-6320-41c6-b350-391976bd003a phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:b63b4a65-48ed-42c4-8b13-e3d5bfd7f304 phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0031993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:38013626 uuid:2b202327-6d3e-4bbc-91c4-d46b658a973f phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:f3d8f122-7d81-482d-b199-0966b5e5b10f phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:6c8e60cd-d230-4f5b-b294-e22e4d47af27 phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:7366610b-e4ec-466a-aa4e-ccc96c17f65e phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:e4d57cee-65d4-40a0-99c0-355bb2aecec1 phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38013626 uuid:151d574e-ac59-49c1-8fa7-ec750e8a45db phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38013626 uuid:2d44143c-2559-4f06-ad5a-f492e4c2a478 phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38013626 uuid:710f608b-3c59-49f2-8330-03497de027fe phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38013626 uuid:6966c14e-daf7-44dc-b757-2ca1c5010e22 phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:38013626 uuid:d248b883-0203-4a48-af4b-20756767bcdc phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38013626 uuid:5dc99f7f-6a7d-4ea8-91df-b804ac0592bc phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:affabdd6-1789-45f7-a24e-e93d4abe4ae2 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:25658047 uuid:e6208708-c9b7-4787-8df5-a22d4e2c963d phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:25658047 uuid:7b7de1c4-738a-43c4-a631-2e597157b634 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:25658047 uuid:b8fc266b-e155-431e-99b3-da0145f5bdd5 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:25658047 uuid:21c28e47-4540-4174-bf73-3a70359bd062 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:25658047 uuid:40496c6c-3f5b-471d-8352-736b38d1a7b4 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0034369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:973560be-3be3-46b9-a31e-05c1ba138aec phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:59b4f17d-1d2a-4ccd-8135-50feb07cfd54 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:48ed1764-9f83-42c9-911f-22f103eca0d4 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:f7df5977-098c-4512-96d5-da8f7d240420 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:42b3ea99-2017-4a2c-b47d-177c02b16edb phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:8c867012-9ee6-4e72-81c2-eda54f7a6879 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:a9ff9691-9983-4a23-bfe4-c1903fad2244 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:ad094ce1-b4e6-40e0-96db-f1e613f6c54a phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:51793c84-1844-403c-81bb-f0cedc7f6ded phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:209aee6a-f75d-4c56-aa20-16e7118c1465 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:f5a03ff0-6991-484c-812c-4a5f202e0dbe phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:31201c32-cb05-448b-9129-6a2afcc0b882 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:bfc293a3-a726-445d-8f6d-28a72fa48b4b phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:f0d3dce6-c6e8-4eba-b07a-6a2c1ee2ae76 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:0bef29d6-54b8-4e2c-9d54-bd16d74bc7e7 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:3e0e2303-7725-45a1-8bf1-9ff6e17454dd phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_phenotype HP:0001063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:60f3de9f-13d1-4e69-b25d-9d20136dac0a phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:25658047 uuid:18ac4e46-5a85-438f-82b2-408a99e4a285 phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:6beb6b4b-c125-4609-9099-99191c93666b phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M21D infores:phenopacket-store PMID:31396399 uuid:d11fe371-8521-4942-8ea7-9cd5809ee1d5 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M21D infores:phenopacket-store PMID:31396399 uuid:7740e346-72a5-4f43-b1ca-3b7f2a058a9d phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:0da949d2-c706-491d-beea-c2a2e13fb62e phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:1b557e20-2187-4317-b5d6-11e0ec1f7b17 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:6331af7c-6d60-4ce2-993e-a02dee128b2c phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:d1c8d6b0-be21-476c-9393-28c9a29885ed phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:aa6166cb-33c4-4514-a143-68cf5b39b5a2 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:bc770c1c-fc5b-4e63-bb17-45be20f756c0 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:c0c46421-95eb-4bbd-bfda-b1ffd2cc5dc1 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0025722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:27f03f15-d6dc-4307-8769-44b47707583a phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:73a1aa64-0b5d-47b8-9a26-e0ab6f44445d phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:09d07a73-2ca0-453a-b609-2a07f3dcab6a phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:c989b186-5db6-4f3b-a74b-320ab6af4d8d phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:95da20ef-2108-4a37-9db5-44f444a7e449 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:be539da0-4776-4be7-8a56-95b994d46f71 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:46ee835c-4f26-4569-ae21-e76669365886 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:bdfae250-3a3b-45f3-8037-a42e123ba5a5 phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:3c06ba1f-fa31-46db-a0c3-9d9c5454dcf6 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M11D infores:phenopacket-store PMID:30659264 uuid:431f4dc3-8697-4fab-b2e2-0b5b9a8eabba phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M11D infores:phenopacket-store PMID:30659264 uuid:f58c923a-914b-4c6b-8953-02358028d63a phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:30659264 uuid:3d2ec1d2-7036-4814-9e59-f0dcab689cf9 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:30659264 uuid:7b2dff92-0127-494e-b64e-2810484758af phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:0a516185-d3cf-419e-8519-656a9849a824 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:d968f111-4353-42e7-a22d-1c43d6286cb6 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:9c1d707b-c92d-45ef-8f29-a14ff4dd9d81 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:c0e8cfe3-c85c-4e3d-8a5a-75113855ee52 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:30659264 uuid:12d3f381-dfad-44ed-ae1b-b8ae9f8ef4f5 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30659264 uuid:893e52e5-9532-41de-a934-1a0656c064fa phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30659264 uuid:60107587-189f-4f2d-a22b-2dd4e223ede8 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30659264 uuid:52e10e20-703b-43ac-95c9-31174ff49929 phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30659264 uuid:b2ee5da8-333b-4f87-bdba-b916e2ddc7af phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:f6ab3644-4bf7-4c4f-be0c-05cb191f31c4 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:e4c97364-a67e-4ef7-b65a-3dda0c8a23ee phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:f59fa4da-6a81-4e83-8845-e4346f4cfbab phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:30cef353-ac6e-4c8c-b4ba-73804103d72e phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:6f78fad7-f5c3-4272-9afd-db8e237a24f7 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:2c667414-aa97-4a9f-aa18-9811d50c00db phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:083dd53f-0f06-46a5-b5bc-62fe5ba9cbb2 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:8bcc52a8-2e84-409f-a530-99b8edf42d9a phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:ad04d968-505a-4d95-a0a7-97994d8217aa phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M21D infores:phenopacket-store PMID:25658047 uuid:79447c6f-3429-4bf5-a9c0-3a9049253bd3 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0034369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:7f4cfc17-c14e-4ef2-8507-14412764f153 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:f758413b-f17c-4c78-a275-749a77f63ad9 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:67d481dd-196c-4cc3-8f42-99b538d60e94 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:56097f3f-583c-4ed1-8386-d61ac06f30f5 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:c4c15e14-22b8-4054-94ce-b207e4306823 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:d55ffe5d-755c-41da-b488-12db2723edb6 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:c07289c8-bea9-4a58-bbd2-0f1866981adf phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:b25f1019-fd0b-412e-8f98-1a84cc206da3 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:025804cd-22d8-4851-b63e-081ec327e083 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:1d0f7727-cf4a-4262-a129-41b6f450ec80 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:a4154889-6b28-498d-934f-0785bde59d91 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:c5bb6a2d-ed6e-41fc-ba25-f155316c1eb2 phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:df685f3c-0e3d-4c49-950f-a38d5b106418 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:33065545-6c90-4faa-a8be-70e1b9b632b7 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:4fe98870-c25b-4f47-b98e-2bc440549483 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:5ca55945-f114-4a6d-9535-19f8e51aeaca phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:f229927b-8d19-4ad3-8362-572d3af41705 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:d98afa02-af19-4b5d-9da9-fac0613c04de phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:b599b9ab-b789-4427-b7b1-870c9ed5b665 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:08900b49-e921-40de-88ad-265a9ad7a4c4 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:f35a3e15-08ea-4736-a09b-683c7ea3c922 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:46431c50-6ba0-4e29-b54b-dc91bfaec6de phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:38014483 uuid:d1e719c0-991c-4917-8e1a-e02233433f4d phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:1d63f63f-b5b2-4aec-9157-a9f37c793979 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:2a85f762-f0f5-46c2-8263-210d33f3dd7e phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:3693d6c1-b61e-4823-9e5a-7e4f7d48f608 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:e5ad3609-99c1-49d6-9607-3d2f162dfa11 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:b37acdaa-cc2d-4b2f-804c-fa3ebad4ba31 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:7e7190ab-7acb-4618-b066-46c549b70892 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:010aa122-f38e-4169-be17-5d2a0e55cea0 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:766273d8-c4c2-4ec2-ae3b-30b7e746f78a phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:3b6760db-5e2b-4fc4-b73c-bccdc320b60b phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:d2d3e291-fa1c-42b5-8520-1380580d20c7 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:96706483-1df5-4d06-b2ed-6b134a6e6f30 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:99fb2277-4da7-43f2-8689-85a2431e40b0 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:36047608 uuid:cbfdb977-6807-4602-8556-b11804e08379 phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:1699fe71-8104-4a1e-ba33-ce699200c6d1 phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:ece523ee-c341-49a6-937d-a32695ac0df1 phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:0bbbbe46-31ee-48c5-b7d2-2c79745b701e phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:fd17c076-4dba-4a5a-8540-fc7cf89e7bb5 phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:e82f3fcb-b3a7-402c-b1f6-e621aa34f413 phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:6cb47258-5801-4e42-8f39-ac5372b0f80d phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_phenotype HP:0030774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:5538d5d4-0287-4542-ba0a-c203cec0434e phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31325447 uuid:fe8b2c8c-29bd-4ac2-a22f-78711d54ef18 phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31325447 uuid:0d0dc2d4-dd47-46e0-875a-bd9480a4c226 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:26bac188-7fc7-472a-8379-190b79a7528c phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:1f81c396-7d41-4ece-a707-76e8b8d9cf9b phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:25658047 uuid:711453b5-efe9-419f-a71a-37b314f621f6 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:2c9d4431-44a3-4a0e-8a9a-19fb685fe6f3 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:5ecd4be4-0b1f-4c40-af0a-8f6bd4acab2d phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:07f47b81-319a-41d7-8b1a-3bda1558e869 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:92a88078-92e9-4ec2-86aa-1e9d1824ac6a phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:dfe87a8f-0786-4fbb-b4d1-7296e304774e phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:3688b993-b472-4d28-a6e2-d848b5b63da4 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:5d1763ff-097a-48bf-8628-69e6228e4dc3 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:cd4b4010-3520-4169-a85b-c1a073b47093 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:63568b14-6c53-4816-a382-8013c11423a3 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:a913b82a-ce93-41db-a03b-dc594ffbaa23 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:bb64d50c-9c46-4d77-9dda-6040bd42c39f phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:091b3cf3-a5c1-45f3-8957-e7f424d0c273 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:b69d0881-00d1-4abd-90e4-af799dcf9ecf phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:5a479373-db63-4f32-ac46-2e4110373240 phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:61261264-4ba2-4037-9ecb-dd7d0ef5a2e7 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:70d038e7-1456-468f-965d-6186c0a1d022 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:91d8f3a7-c6d1-4807-b1b7-fb85f5bce7b7 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:5a22af47-c846-48f3-bc75-f247fbebfacb phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0034369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:f3fa2e15-6e3e-46f2-8abb-dc28094bdd17 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:4c8a7925-1aca-4c45-9d19-ad75f26c0add phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:e0c3edeb-288b-4cea-8031-c590e5b8a232 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:23705206-78b5-4e6f-92b2-8531b68d8ab6 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:459825ba-a053-463d-9799-b41dd9cb58f4 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:f97d312c-9a01-4bd4-af3a-b46339286659 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:bc558c0b-6985-449a-9fc6-05d15ecc78eb phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:1f5eb4a5-a53e-436a-97a2-fd9d5b702ad9 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:8198e0ee-9960-4e42-9b60-4ee6118735de phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:5881fca3-5ce1-44f9-a12b-324e8339dc91 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:1b903779-7096-4521-b79e-204c9f1bc32e phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:522b4b6b-8f4c-4c7a-9f7a-d2cda18d1b49 phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:2d515b98-5538-44c3-90ee-f2a669f4d2be phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:26185144 uuid:e6942a37-8d24-4441-a552-d80ae0d7642f phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:6d04a8c8-d82e-453b-b213-067134137236 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:372c7fd3-6e88-4b1f-97cc-89f306805100 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:fc3d3a18-d9fc-40fb-bf0b-5341ec67a099 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:e71ed77f-01f0-4d71-b954-bc51627abf08 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:b9be73b1-2d87-4dad-b1b0-84519c6d02b2 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:25658047 uuid:40b1d484-fc0b-4b84-8819-c28f34f871dd phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:d0401273-bb2c-4be7-a570-fa86b52e90dd phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0034369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:a3a5283a-eb71-41c0-a218-b063095ba1b3 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:577a16c4-b742-49c8-bf77-af5c729d8691 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:81c2c2d4-2321-4566-bf64-ff5509920b5f phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:8dbf1e05-1f13-4047-8356-7762450cc1e9 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:634c8a50-b0f2-4845-ae0e-5f5a93a76472 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:c736f67f-af68-43ce-825d-7f56e9004f66 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:77d4326c-0400-4ce9-9312-f30dd219ce17 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:e16b01a2-3445-4510-a2f9-7b0d706d0364 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:326deb79-bc1f-481d-8f45-8d52da58f331 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_phenotype HP:0001063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:d28bd3ae-c59b-4ed1-86cf-2eeda649f448 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:e5ec383c-cde1-4034-80a5-01f41b11ac57 phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:e0be3ce0-0f1a-4cf5-b62b-bca750935b33 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31396399 uuid:5c94a9b2-6f07-4702-99a6-07defee6e649 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:47f00e8e-86db-4095-8efa-1c48d130b91f phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:da290e87-437f-46e2-9ce6-0ef07292b73d phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:3e0f7c98-8c3c-403e-8a31-495c6202b17f phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:740c65d8-dd95-484f-8cd6-cdabd1ceea34 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:21572178-5437-4beb-b633-f43b360ffc50 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:1eb0bdfe-a0c5-426d-a6bd-c0064edd83a9 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:21de3b77-cb0b-4a2d-80c0-f1998e113e41 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:0a846a4e-2267-41f9-903c-31bd3bf02a2a phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:456d0f3e-de6b-4a89-88f9-737f92c02219 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:221e5889-a9f7-4fc8-9335-2042bf40eae7 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:2283161a-0e39-4986-ae99-240c0b88cfe6 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:31396399 uuid:e8b44f69-8e9c-442d-852f-624e448cf2d3 phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:f9bacf76-f7eb-4499-950d-908982d052f6 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:38013626 uuid:eb3b42f2-dba8-4bcb-882d-f0daf57769e7 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:38013626 uuid:308f6045-02ed-43de-b0ac-e4fcd7a05fa7 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:38013626 uuid:492d151b-a144-49e3-9cf2-6e7850af363d phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:38013626 uuid:23065887-2db0-4f05-b5df-9d1d00fb77b8 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:38013626 uuid:ab9cc034-3697-4f4a-8734-5ead056fe884 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:38013626 uuid:31c30275-0da0-4baf-996c-f7d4ad8ae889 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:38013626 uuid:be6560cb-c8ca-4396-b39a-dedaa19d59ac phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:cd2b057a-179e-47b2-8149-823e2364e3f2 phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:1391b789-4746-4e66-9469-6ddfbdc168ec phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:38013626 uuid:47c0b7c2-c852-4a46-bae7-8df0009ac88e phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38013626 uuid:23bbda56-2da2-4e55-9df0-f5e51f85ce62 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:31396399 uuid:61b3b6fb-7c28-4d02-820c-ea2a1a72632a phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:dd6f65aa-78ec-4478-b68d-7384fdb74d62 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:424d536f-ab44-4fbb-8104-ce77a0a2f126 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:10041b2a-f952-48c7-b40f-02efbf9edb01 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:038d56ce-3b45-4937-8190-c0263c6bb9f7 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:301294ab-28c5-4ed9-b0e9-ca9799d1c563 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:a260861b-b472-4ba8-b181-51726854d185 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:a93831cf-003c-477b-8d98-b0a8d3cbe6e0 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:1febc597-1902-41ed-8f8d-3d1a0baa76a0 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:cc4f6b11-4e5d-4106-85a3-59917a5ffb55 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:d6943a9d-ada2-4ed7-8e31-85ec0d0d277d phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:7adc3d5c-1dc9-4269-bcdf-930020076d78 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:31396399 uuid:b1e14a14-326b-4fb1-a18f-37d1e4ce5b12 phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:23e38408-fd39-4da2-b3e9-8da8fc8bfcc7 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y11M infores:phenopacket-store PMID:31396399 uuid:b895ab38-663b-4cef-84db-7a77922cf595 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:cd87040a-c64c-4957-bee0-10ab47fa86e6 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:9f8b092b-3f41-43e5-8992-0cb963090800 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:3f140fc8-6689-467a-8c23-4a3b8cd497b2 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:2a83cf4b-5528-4634-b986-8fc5ed86573b phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:b3d3b955-5873-42b9-8ba1-fbf0f2873f04 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:47407698-f507-4bf4-a1fe-7bec5f1e7326 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:836cf087-becd-4c45-acab-e8148ffdb059 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:8033c283-5a55-4503-8f17-99fa6ff8ef10 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:7c4dd1e2-cdd9-4532-abfd-70ddbd2b6064 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:fda6d1f3-5fb0-4134-a0bd-f4c6f08836ee phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:a4b3761c-5c21-4086-ad2a-8f479d03ee66 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:cbac5edf-0b71-4f81-8d54-4281b19c687d phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:ce71c0f8-6e95-47fa-a0d9-2835f142dcc2 phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:625b0d2b-1ce2-4ccb-bcdb-a818f6ae2912 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:33704555 uuid:edf2a3c1-c326-484a-8239-d9b094f128bf phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:33704555 uuid:bd9a5238-f4be-4bec-9407-53e520a07471 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:33704555 uuid:b1f3acde-4410-4a72-b9a2-7e8e5102436a phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:33704555 uuid:892aa8b5-351f-4730-ad4f-2311bced2883 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33704555 uuid:01536e6e-875e-44d6-8a54-29420648eaf9 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33704555 uuid:550d545a-4d93-4106-b757-0a7c85216a4f phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33704555 uuid:1b78a14e-e0a0-4192-bbd2-8ebdfd82de96 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:2ef83cbf-fcfe-43cc-84da-3079d0f8ec16 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:02a4749f-e758-464c-b7fc-45af0a40c891 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:33704555 uuid:fd6233e9-54e4-49db-a8c9-59fb9acd7397 phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33704555 uuid:def50f0c-ba62-423c-99c7-14ba55f4217f phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31396399 uuid:19f79e07-8127-479e-82f6-d089187fcd46 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31396399 uuid:0951809b-a0b9-4ee7-864d-9aacdab6eae7 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31396399 uuid:19c7cb1c-d277-4bac-8b25-6634b43704d3 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31396399 uuid:df0e540a-7dcb-4a4b-b378-84a528b25111 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:ecd0d53d-1943-4995-b3b1-4a3b303e765e phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:b6124158-6492-414a-be46-ba6b777434cd phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:48dbd958-dd7f-4c76-a369-9335e316290e phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:68e4751b-1db7-4c27-9195-9ff09a37d75c phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:f75755f7-34d8-4d4a-943e-7139da231350 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:7e1facd7-ad52-4012-8936-3808f1388119 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:25719251-a165-4161-9745-cacb781aed35 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:202c9b91-61c5-4a4c-8854-06cb39369196 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:31396399 uuid:2b9ea580-1883-4002-810f-b127b70e29a8 phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:fd3d8a3c-3431-4ac1-a349-9b491cc619ab phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:7f26a9c3-77fa-476c-9897-60b4cd472141 phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:5429a42b-3b42-46cd-afbf-711208412da9 phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:c3d465b2-0c6e-47fd-87d3-8be733bb90b3 phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:afdc84e5-98bd-4a2a-90c6-c5edc9d30c55 phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:14e31769-8077-43b8-a54c-6965a4d9fd0d phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:5130749c-5b4e-42eb-b06e-a0f6b425e0a4 phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:37061d36-db75-49bb-8d66-d1f909bbf603 phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:c136ac28-ab22-4343-acfa-31d629a76f0f phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:54749455-5014-45d8-b59f-b28326649dec phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:38014483 uuid:a53c0df7-8ce8-446d-9147-bf4a9119325b phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:9fb8bdad-8488-4934-a3b3-6b0aaec387ab phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:39f7c3ec-7a82-4f06-8b46-ce989f4be92d phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:839787d9-c2d4-4ee6-8bfb-ee61ceefc7ef phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33215859 uuid:6d3fa38e-772a-4bb0-842e-2ffd26459f9f phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:33215859 uuid:b6543aa9-b35c-4e11-b0f4-5246c13f650b phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:19e63926-70d8-4eec-903a-9b44e83201da phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:a0eaec23-648e-41f3-aad2-c5b9b00cb1b0 phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:cbc68a14-3dfa-4645-8d55-3159fd6364d8 phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:4805bad8-4244-4be1-a60f-0af51afa5013 phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33215859 uuid:28597296-cdc8-46bc-82bb-df6f0a6658cb phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33215859 uuid:f0086406-756c-4455-9e80-e679d0a3fb97 phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33215859 uuid:f02979e2-9628-4de0-8690-24ee03c901f7 phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33215859 uuid:35eb9ee4-dd11-4973-9a02-9e7d552b5434 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:31396399 uuid:7eb74622-250b-49fe-a142-6b1f953a644b phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:3916c7a1-8449-4650-8430-3931a6e27d66 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:8be37ee1-9e9e-4ba4-9ef2-b169e4eb1342 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:e875d23f-d0f6-4d0f-a0a7-61d2ea0a1a46 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:6bceac6c-df74-44d2-b156-4aac810afc8c phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:ce7f5439-7a79-4318-bc46-69be25e0c973 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:27ea7652-f9a6-4c6a-b07b-879d6e263c81 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:36d2643a-690b-4fe9-9887-ddf9888555ae phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:df31bbd1-80bc-418d-b923-73ab3cdd87f8 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:259cf065-e5cc-4a3b-bc7f-56c3ccaf8ca5 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:9cb23b5c-b82f-4b05-8229-2bbd3832a8b6 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:7122e130-473b-416f-8ba8-0210060a3d52 phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:b8a93033-a8c8-447b-8d83-6cd1e154392b phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:4a5c25fa-fb9b-4972-9909-e4f8410c7782 phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:ccb6a81e-0ba8-46c5-8dcf-bdd0d0b6667b phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:e8a0f6bc-3860-40bd-8940-a497225b0f2a phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:6e6be8f1-4730-4dd6-b0bd-ce8ffb879e06 phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:8fe0d1e5-8641-4a70-80d7-cd4309b1bce0 phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:32600c11-6ce0-43c2-bf02-5d8549f71e37 phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:09e893a4-bbb4-407e-b66f-551279dec643 phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:4b0aeb8c-5b12-4322-8964-a348f2385223 phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:ce7ccf96-413e-463f-9459-b73d7a48df6c phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:26185144 uuid:e4d1a28b-a36d-4150-9ce2-ae4f1680403c phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:e3118e7e-1ed1-43a6-a0ab-1a641a99b4ef phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:c7f5f27d-b7db-4d6f-a108-1d21f3ec1bb0 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:25658047 uuid:606dca0f-5ff7-4d82-889e-5e3112a70b85 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:f243abe9-8e36-4c90-957c-55074efdc1c9 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:921b106c-a708-43b4-9aa5-0ed7d551038f phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:49ec3ad7-6ef1-4a93-9e8f-b3516f8a5652 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0034369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:3e1fa6b5-701f-40d8-8b7b-e924c408ddf3 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:1b2da134-c298-45ec-af34-f3e9bd99971d phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25658047 uuid:2e66772d-84a6-47bd-a9f0-7798202b594e phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:ec4b1af0-8ad6-4c99-a651-5fcd8b86028b phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:cc5ddf47-3b36-4376-9e79-1c1ca5f12f52 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:aa85134b-9434-4280-b0ed-7a3dc9206839 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:290718ea-fb14-47b7-b1bb-3f32e4ac54c4 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:f76be7ea-e59d-46c1-a0c0-48876c3c1c47 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:9b6737e6-0ee3-4898-bee1-ba5120ff34c9 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:197a5d4b-f59a-4a69-a39d-f2e67cad7b2d phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:2e4cdae4-861b-4c23-bfb0-6941e3d8a5b0 phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25658047 uuid:6683c03c-13cc-43a1-8ed7-2c30bd62c9ac phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:d1426838-a9bb-4381-a9f3-63552a2c4a8b phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25658047 uuid:b9d03021-c531-4682-9da2-54d347b4afbf phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:f28a9dfa-f299-4939-9081-65dac104d1bd phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:30847826 uuid:4d646115-4697-4e24-ad02-5f2557a759fd phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:d399062c-4da0-4104-b4fa-28e3ea8aafbb phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:1ac07b03-cb74-4065-ac5e-5e0341e736d3 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:c6314b64-a378-4268-aef0-818b38932e70 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:02660bc9-b91e-43a6-b57e-d7025ada420d phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0002313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:59009481-8777-4f82-9442-2ffd03657773 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:7c155c2f-6706-4eea-93d1-c77a14bdb994 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:214f0894-a46a-4b1a-9ab8-905f9c9474d4 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:96e9f2e0-6ed5-46bb-bd55-48d8bbe7ae42 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:4b653732-9dd8-43d2-9c0e-d1fa79250b52 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:15e0323b-fb86-48b0-9ac3-d392217a18ea phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:1860cde0-7c8b-4813-9c90-d269f8c9c565 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:e31af9f9-5e51-43a9-b3b2-b65dfb7228f8 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:5112e114-4682-4bd1-a34f-2201c7851ca8 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:4ef145dd-46b7-4306-a774-af3a7d692e1b phenopacket.store:COQ4.PMID_30847826_sister biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:30847826 uuid:4106a815-abbf-400e-9510-4d57c76e6d29 phenopacket.store:COQ4.PMID_30847826_sister biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30847826 uuid:e6d7db05-8709-42be-b2d8-dff7cf22b776 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:31396399 uuid:a2965742-24aa-48cb-abc9-f59cfac311a9 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0025722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:31396399 uuid:2bb7115d-05c8-4904-aee5-4ff86874785d phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:31396399 uuid:eabd958e-74b6-4cf5-adf1-a928f4ea1044 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:3369bb0f-9672-4479-ae10-4de0c2ac80d6 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:f218e9c7-83ff-43a5-9ad8-be2db594bb95 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:ed2fadcc-8038-485a-bf19-2837e2a5baf5 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:9b03d1b6-0ced-4ce6-b75e-316bc963ae87 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:b6d3f2b9-7573-4730-8d0c-15be0fc9f39d phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:9b86ffe0-7399-42ab-8ac5-b683b1aadcd9 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:0ac238d6-b250-4c25-a5ac-a5ac9dfe16cd phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:7cb09796-fb02-4c38-8c57-727f3a7af594 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:dabc053d-c6ca-4825-866c-823295e768f9 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:24431421-5ab0-409b-a710-11c14cb2c2cd phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:461c8555-dabf-422b-a3a7-71a85ea7d3c8 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:892d122d-5f74-46fc-9bf0-028bb26b8974 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:e7b1f4d2-69ec-406d-bea4-69d2fdb970bd phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:6b77512f-6118-4c33-b133-d196a7058826 phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:26eed071-d053-40c3-b068-36547784227d phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:ce950086-5f7e-4132-9819-d9872188aa8c phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:ba1b12d7-0771-4d8d-b761-57ad9fe7a572 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:4c6eaefb-f2c3-4dda-9f28-ab1e08cad169 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:7ded7d0b-f482-4d23-8f99-2c7097162588 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:d9ddaac8-46be-405f-8989-7bdaf152f8f1 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:ffd2b6a2-f921-4423-8b7d-55a4658c41a7 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:f24b0efb-da47-43ed-816c-c1eb95c31319 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:fcea4626-553a-4335-93c1-e7a9c1b6cbae phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:fd7a2249-086e-4409-8a52-a035f2dd68b2 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:febef8e4-4929-4861-9dce-386e7c452ca6 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:32a53fc7-2152-45ba-b932-51849db66910 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:bc98ffad-f7bf-4d90-8429-44983b8514e2 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:5c183b74-c870-4082-8a2b-c9a40a191d3e phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:7a484be5-1175-47fb-be07-31ed6e46b274 phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:7c5dc5ab-f198-4130-ae5d-2eeb782f8c31 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:4e48b885-c10d-417c-adcc-8eecc1e57bf0 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:057040a5-caa2-46e9-ba16-70a1338854da phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:4a68505c-145e-403c-82a9-80c0fe30c6de phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:7feabe82-cab3-4cfe-9c48-be2760c6bee7 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:a5e186f5-3f73-4413-bf54-0fb9abfb5372 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:89b0aecc-729a-4f5a-8668-14e2ad32d141 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:c92d6394-8f5b-4d08-b68d-5bb0cdf11c11 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:38014483 uuid:54bd8e4c-65cb-485c-8ff0-dc7985d84a88 phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:5d4511ac-f1f1-4ca0-ac0d-4b7c238eaf30 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:28540186 uuid:48ceb8c3-9919-4df1-bc0e-ae9aaaa18a62 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:28540186 uuid:18694d0c-b6e9-4629-a554-92e176de7a4f phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0200128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:28540186 uuid:ec77ab7a-e976-456f-84b9-f314906632b2 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:28540186 uuid:d51f34fa-cd4e-48cc-b4f7-f05e0f5e5593 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:28540186 uuid:3ef3db81-e3a2-409f-b01f-c406c3910331 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0034369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28540186 uuid:e6d16f2f-07dd-4be0-a62a-108f6913a527 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28540186 uuid:7b40f3d6-9ab5-4a9b-951f-ed9001740a5e phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28540186 uuid:5090ea2e-73ca-449b-8416-6079b1cb4e88 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28540186 uuid:b05a1550-ce17-4c47-b019-6ea632420039 phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_phenotype HP:0030774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28540186 uuid:539ae859-ad0f-4ad0-af02-2d8925efcb3c phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28540186 uuid:32a1e67f-8103-4b8a-bdaf-1c61cfd6a6fc phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28540186 uuid:16d82aab-894e-4511-b3d2-4181f67eaa5e phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:d5db3677-35e8-417b-97ee-dc92750621f5 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:7be02483-36e4-4f16-9e15-b14e2715f064 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:138efbe4-9926-4d3d-8230-3aae9ae57ca9 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:526683a8-7dd5-47da-bd05-359cfdab38a8 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:347c3c12-533f-4cb4-a00b-2bfe82d5ec63 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:38f1c6d6-af11-43b9-8b22-eafa244dad1e phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:50d7a6e9-b6f5-436f-9a0c-44a94e6ac565 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:0fd93e4c-cb9c-4b84-bbf7-342b5e9d934a phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:75b8f39a-5bc5-4ba8-aefe-e97323a8eb2a phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:bd240494-b4ed-404b-a7f5-c7f8981e55ad phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:102c994e-00f7-4148-b044-76ffc7923813 phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:bc25c9e5-defd-4304-b0f1-ace63f774df8 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:38013626 uuid:1b67fa40-9425-4bf8-a480-984b6d290466 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:38013626 uuid:cd4294f3-e174-419e-adb1-d6fc87e0a5ff phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:38013626 uuid:cd3f9157-f429-4215-b245-c5ce0d9761e3 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:0daf322d-a8fa-4307-99b2-9611f5cbc259 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:463eb2e0-69cf-4bc4-8576-b26d0842cf84 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:1d70f019-7d79-45df-9541-3ba2d592305c phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013626 uuid:4901cb44-4151-428a-8545-3d72bcf53d4a phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38013626 uuid:95f9ef0b-6ee6-49f8-9140-e46cfd9fca9f phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38013626 uuid:cd76e7b1-0eca-4b82-a054-e1dde63d3dc9 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:38013626 uuid:9b024ed7-816e-4f32-a764-698820f2e4b8 phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38013626 uuid:b4124360-8399-4aea-bf68-4f83a4e75d5c phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:41ff9b84-dd88-4181-b5a3-d0d1266292b6 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:7ee3a8a1-613d-416f-8b61-895e78d84ff0 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:66c1710a-ba4d-438f-b409-eab74c1f2ac1 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:7bf5ab98-f0c2-42e3-8168-888b99559bc2 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:e4cbc14e-71de-4ea5-89ed-b575396d24fa phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:38f98505-e77f-42fa-b08d-1384e0735412 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:7bfc801d-90ce-4129-a7e4-b49b5bde345c phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:626eda41-b9b2-43f1-b1fa-ede1979d44f2 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:4af4a7f4-7b09-40e5-8d29-08afb51d50b2 phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:38014483 uuid:38bf24a4-d4ca-40a3-96b2-e0de7a96a5eb phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:1a364b2d-8af4-49c9-ad9b-4042b2bc178f phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30225196 uuid:7b0162a8-abdc-477d-8cc4-71730f1b8abd phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:30225196 uuid:5f3695ac-79f1-476b-83ab-59ecfc459612 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:0c1f13f1-34e8-4556-8b6b-bf997f84a6f3 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:0e1506de-2445-4de9-b5d2-b310fc770eda phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0002401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:31c9cad9-fa07-4bf6-b891-e7cca3f62116 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:1761872b-3e4a-4373-b16f-b108e79d6bc7 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:bbeb941e-e655-4118-afc1-295342cfc526 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:352c86bf-4024-4fac-bedd-d198e3c32094 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:156bc9e0-2c65-435c-bff8-3f438d82ebbd phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:9a84ddc2-ee76-4e82-8e74-02ddb605ec7d phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:30225196 uuid:91373022-d0cb-4b94-ac2b-0c3ff5563b24 phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30225196 uuid:5a078272-e1ca-4c8f-8657-c79aa87f920f phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:9f867e04-03c2-48bb-bcaa-0e630e033f3b phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:8305db36-799e-4ef6-a4e0-eceb176c3052 phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:83c7ec9e-3d00-4009-9fc1-2ca22e07b4e3 phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:81b65395-98e8-40c9-a295-3dba326dcd13 phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:c757ce19-069b-415f-b83e-7e7e10f7f3b2 phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:d611d78e-70e5-40ff-8995-aa1088c7a24b phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:b93c989c-21f6-4a66-94c8-6bcbdaa186d3 phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:73d45e76-db78-433d-bcd6-2783bf818cfd phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:f1bd2656-c2c8-45e7-b8a5-9ffdaf64c5cc phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P55Y infores:phenopacket-store PMID:38014483 uuid:ed4affac-deff-4a1b-9910-ab9d8d32e220 phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:d99c1dc5-9d9d-4fe0-810d-197112457076 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:31325447 uuid:e2a2f80a-5f5a-4d79-83b1-6a30e283bfd8 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:31325447 uuid:5ecbecc7-761b-4290-b9de-d45cdc507258 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:31325447 uuid:e8f9ac8f-3cb5-411a-9138-8bfed7c1d88b phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:31325447 uuid:c2a325ce-15d1-4887-933d-9a7da1019817 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31325447 uuid:622984fb-140b-4192-b7b2-5fd4077cf2af phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:cff7dc39-e299-4f26-a80c-541d8a00c477 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:643fff99-2ebd-4c92-9b84-eae342733df0 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:c8a67176-a882-4637-bff4-da6ff97a648c phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:37f44304-afc1-4b02-92fc-fb2ca34d0296 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:946c8f7b-1a23-46e5-9e90-bd9530031001 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:123013f5-88e9-4270-937d-a9631f3f88fa phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:2fe57f71-64b1-44a0-854d-c966fb4f10d8 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31325447 uuid:bf9c6d20-9e8d-4145-8521-f7215a0658cd phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31325447 uuid:586eaec5-681a-4f4c-80b8-f4438442d361 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31325447 uuid:db225cab-5e8f-434c-9295-6f588579e840 phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31325447 uuid:134925ba-c363-417c-863d-8759c9555fc8 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:9aa60ec6-2b34-4779-b72e-d956463131bd phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:882a5e3d-c469-4756-831b-2402b428e873 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:ded18474-aeea-4611-b191-5a464a2b1e06 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:23be4480-3ec1-4b41-84fd-b3b3ba4dd128 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:5ef4ce4c-6476-4359-9262-b8bab5393601 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:a378c1e1-a715-4367-9832-9c366204d0a6 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:c3f5a58b-ed12-4443-9047-ada7b3129218 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:03cbc78c-bb02-497e-bd55-d85bd1880363 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:2b51006b-e7be-49d0-beab-ebe0387de0f2 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:592b86f0-b1d7-41fa-bfe6-c70ab12b1da3 phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:5d66efaa-628d-4904-8845-c1072df71cfe phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:36047608 uuid:7cdf16e7-3d93-4a87-aa1c-e22e3662cf1c phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:1cd83424-3ca5-41b6-8aec-b8809edd3e11 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:01ec2fa2-7e5a-4c39-aafb-76d579e608b9 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:719fb2b8-39de-4c61-83df-f0db08fcdaa3 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:daeac326-afd8-4139-a8b7-148811c4a89c phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:e73bb0eb-f19c-4468-bc3a-558835b8e6ed phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:e033c46a-899e-49c9-b7d5-2fdd0a6194a4 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26185144 uuid:2d0e78a4-f929-40bf-aca7-083f80c1810f phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:a28d8917-aae0-4711-a57c-525343b0df61 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:4852b335-06ee-4f10-b543-650d865a1e26 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0032278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:e5905b1a-4d65-4a66-be5b-8132c41a14e1 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:83450ac0-caf0-43eb-b847-fb94e878f637 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:2bf73d69-0c2d-4750-bf13-6156bb0b461e phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26185144 uuid:f1529021-eccd-45c4-b1ff-d2ac524877a5 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:e5db3418-6f2e-494d-a8a2-e9a06f2090f9 phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26185144 uuid:ded63c83-f51c-4ebb-a8ea-a5b9369bf570 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:e5642d98-da51-4952-9f94-f9054f872b44 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:f5fe0c30-569a-4b29-b77e-e95bc2cf8794 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:7b1b5566-d86a-4b2c-a69c-00350c567869 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:7f31a9e0-77b0-4a90-9196-285f5b1a0fc7 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:412e790d-cb21-4acc-8d13-cc3699122da6 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:a800d5c4-9ba6-4af6-97f0-125ed51517ff phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:a583d682-5845-44ed-abd5-e8cff4e2b11a phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:c39a9261-b23d-4162-8814-185a5d57e172 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:38e556d5-7393-43e9-8d1f-9cf46d268763 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:b03664fe-44c4-471d-a771-1878471dd7e9 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:2662501f-4dc0-4b5f-b6e3-08e1584d3a97 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:36047608 uuid:8260cb80-2cab-4eb7-ad98-3ce2f4169c36 phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:5aa1ae01-9cc2-4809-aae5-afeadc025c89 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:b329ab3c-0b1f-4d04-8a0c-3574177a27a8 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:30847826 uuid:2184aa5c-f12e-4d74-84ce-dd18ec00fe84 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:30847826 uuid:d337f1b1-66ee-46c1-8aee-9f33b32fe2af phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:30847826 uuid:0838300d-556f-42e9-9112-0c0138eef743 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:aaa35e54-78ff-4ca8-8c5e-8185598e787b phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:a8ee665b-e902-4268-8b7a-93c713fa3541 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:a0471009-9948-4168-a237-934afe45f775 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0002313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:6449011e-cd46-4c27-bf6e-c556e92e4e80 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:599483e9-e868-40f1-837d-6715e149b19f phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:330ecb92-3db3-4189-b13c-0281d660ae54 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:2d1e4224-43c3-4c33-b119-32841963098c phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:8247e967-1d91-4598-a783-b27508cce9a0 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847826 uuid:1488ed75-dcf4-48d0-8aa6-0423bf0bc898 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:e21a8391-3122-48be-80bc-31c320031443 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:66ea8e69-38d4-467b-8952-b4ac431390dd phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:6d62c832-1a2c-478f-984a-07760382758c phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:e6e4fa36-e3e6-40c3-a96e-614b0793a3e9 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:bd697765-97d4-47a1-95a3-37f671e41ab5 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847826 uuid:23d9c35c-df30-4098-8317-5ed4daa34231 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:30847826 uuid:e213b562-af96-4df8-83f1-9b00c53a36f0 phenopacket.store:COQ4.PMID_30847826_index_case biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30847826 uuid:37045c21-99c2-4425-a747-82598676bc93 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:396ce28c-e4ce-49e0-be03-6bdca01a95bc phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:9e1ad30d-2bbb-4840-be7d-d1acc9c53f5a phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:013c7ae9-0092-44e8-b4ff-5e4c824944d1 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:25bb1a53-efb9-4d4d-bb58-fa04ee60ed21 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:552e64f9-18be-458f-b5c4-78e823a4f4e4 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:5da64cb4-1ef4-4016-891c-64b4d3c9b186 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:7187744d-bde7-4c3d-8160-dfb4b4e88138 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:aa1851e5-d6b8-4c9b-aec9-abeba96594cd phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:26e36579-19d4-4563-814b-48ae3759c65e phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:38014483 uuid:2d768713-5e67-457e-8139-7190aa50e3a4 phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:1790f8fe-3ae4-48f5-aa26-4b52131192aa phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:20be5a5c-57ef-430d-84be-6fdfde14181d phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:d1904645-beaa-401f-9911-c8b072e7a099 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:4e5502fb-6416-4168-9e25-b37d17bad261 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:b9a25f2d-0f65-490c-91b6-490d981c3862 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:7f6c91be-6ab5-4ba5-97e8-75aa1eeb5bce phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38014483 uuid:49b4a7c9-2487-4b80-8905-0ac861b75e59 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:58b9a66d-cc57-4b00-af64-4e2fb0bb7a76 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:28cd06a7-7759-4428-8e60-55b978f37bee phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38014483 uuid:1a66fd86-05e5-4dd7-85b4-b1cb13f37293 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:38014483 uuid:92f28870-8036-4d50-8acc-941c13eff640 phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38014483 uuid:6d496362-13c2-4293-b786-d6a8fbb187cf phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:68d045b1-3113-46aa-b8b3-519e4f8c48ef phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:e4cfc02c-f04a-4b95-95ef-c261298d78e8 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:1b107d14-dff7-4d20-8c29-57eb79c983fe phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:04300bca-3528-4008-9da0-2f61a687161f phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:64daf8a1-b7db-4ab8-b5ab-a752a53c2df7 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:079ed7aa-5d0c-44a7-b79c-c6c553f4f0dc phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:bd031b46-bcf5-4c87-855e-7d09c0331303 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:4fb52c7e-6cf4-4311-8c20-3b0d22687043 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:4bc3d11e-05c6-453a-a433-fb031a3cd25a phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:3e43913b-d50b-47a5-869d-c313793a5550 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:b41ab8f0-a2b8-4301-9a5f-a40d0f9e9548 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:36047608 uuid:1cfdc419-afa4-44cf-b0cb-a65e566ed4c2 phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:f5f23d9d-a724-4862-bcbc-b86d5719b0f7 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7D infores:phenopacket-store PMID:31396399 uuid:9260af13-e0f5-415a-aed8-875e1159cc70 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31396399 uuid:d0208fd2-dea8-4582-b9a6-97587a00fa7c phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0025722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31396399 uuid:a06ed119-2e3a-4bf6-9781-f149f47686d1 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31396399 uuid:7534504b-f574-45d1-a0bb-96fbc6804756 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31396399 uuid:7b4ea4e5-857c-46c1-bd16-a407c953bd4c phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31396399 uuid:5ebb58de-52f5-43f1-b3b6-65a5b0c5bfbb phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:008ed639-734c-49a5-948e-e4708540b6bf phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:74ebc8ec-daef-490b-b132-7cdbd5984b59 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:1988c41b-6362-4e67-8f2f-832e10b2aa52 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:cf9c2cfb-5b8a-4f5e-aa9a-c60e7407eead phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:52e5b42a-8e85-49bb-b17e-3c74f1094f1a phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:ba6a63cb-6538-4986-a132-4a1d9b6a3eed phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:89a124a8-4b07-431a-a4e0-c72d3f3e4c98 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:206f49fb-c6c3-4c25-ac0e-b9453fbaebfc phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:4cfa207a-8a67-43b4-840f-93b35dee195b phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:55640c61-fc6a-40fc-a235-afb0fd7f8255 phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:993c062f-2ac6-45fe-90df-9eb95293be8f phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:d8e824cb-a94d-43b9-8f4b-5ec77dad3521 phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:0daab7b5-0188-48d7-86f5-38515cc83af7 phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:3161cca4-5ede-4f17-9c2d-f13c441c8f6c phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31396399 uuid:b3cadb80-eada-4461-86e4-00b08602734e phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:b6e0e491-b946-4317-915a-67f03f340c5e phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:d7e0fc9a-bbb8-47fc-9009-51cd37fd7f73 phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:f57d1534-8137-454f-8aea-955af0e6aede phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:d45361be-f9aa-409d-9037-0d8acbd55fe2 phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:935f6fdb-b74d-4a10-a135-6a614bdcda7d phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31396399 uuid:e749367b-f440-4294-8118-187fcc757aff phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:ace6224e-329b-4756-b652-8c0b598c8ab1 phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31396399 uuid:88e329a4-cd21-4f7f-95b6-1418766b0622 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33704555 uuid:b51e5e31-2d31-4f87-b194-6828798b8c92 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33704555 uuid:ee03d8c4-2ddf-4b75-a6e1-0a89cefe426c phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33704555 uuid:694eba97-c1ae-40ce-88bc-cd31984f3a3a phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33704555 uuid:b418fc14-ca04-4b20-acf6-2d6174cc4864 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33704555 uuid:96cb96f3-a8dd-4d88-8210-01d1d2c1768d phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:68d0ad43-4360-4013-9b86-f7f3618102d3 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:4ed07112-8488-4918-8b3c-1c6f7f2dc491 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:4e3b4b71-3d73-431b-b73e-5944e9063c5f phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:9ef46a36-1045-43c1-9d5e-7a5bc02f98b8 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:41177701-e269-411a-a599-81a11c543055 phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33704555 uuid:2100b1ea-b204-48bd-a792-04f082f6472b phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33704555 uuid:8ff70238-fb4f-446f-b9d5-ed074a97862b phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33704555 uuid:6a514268-085d-46a2-9432-07caf1628dce phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:a465baf8-57fe-43f4-a577-9d4c74122d12 phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:63421c11-572b-42af-8734-96f7252fcbae phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:0c7d3995-727d-4ede-b178-005e8ed37c8d phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:032dae1c-297c-4edb-a50f-127393d5058e phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36047608 uuid:aedb880e-98bf-4929-8907-690abd880ab4 phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:1f15bd95-0072-4869-a448-0e2ed210d400 phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:bd6cf070-8bd5-43d0-b3e5-13c1f2e15e37 phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:9dda6ec9-8b1e-4a86-aaa0-5115ea4eaf0c phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:40c5f1c0-0899-4a10-a7d6-c60e25b75b9d phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:a0b2eb87-1fa8-4d73-8096-fe70475e179b phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36047608 uuid:9640d6ed-85ad-4f6b-81d2-f886291fdf8d phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_disease OMIM:620666 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:36047608 uuid:b854466e-b941-4f7d-a953-a8d609b66139 phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36047608 uuid:ae5d13f1-ffeb-44f8-8317-6f9a6a08c946 phenopacket.store:COQ4.PMID_31325447_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:31325447 uuid:676a48b1-9e3b-4352-86d0-db642fe34f12 phenopacket.store:COQ4.PMID_31325447_Case_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31325447 uuid:19c6d3b6-b7f3-4ff4-87b6-b59770cf67f4 phenopacket.store:COQ4.PMID_31325447_Case_2 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:31325447 uuid:2507d3f9-2a1f-4efb-a9af-26d578aedff2 phenopacket.store:COQ4.PMID_31325447_Case_2 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31325447 uuid:f8f88a0b-1902-4a2c-be0f-1216a8869614 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:30225196 uuid:dc74d2ee-aec2-462e-bad3-38278bcf1877 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:30225196 uuid:85476a7e-aea0-4494-80db-596fa1145313 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:30225196 uuid:373d622d-7854-4595-bac8-e9eed6d2d86f phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:30225196 uuid:a040f4c8-cb73-40f8-ba5c-bd907d4fbf28 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:efdd27c8-c120-4d4c-9b8d-1dc7078c7098 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:bdb4c364-71f7-44d9-8780-a9046e2bb088 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:dfbe6973-1007-450d-8bcd-6db0e3b66942 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:56bf90cb-3727-4991-b77f-e19ca1e8897b phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30225196 uuid:bce2210d-80ca-4e85-ad1d-fd103b747ede phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:7ae271f2-06e8-4a41-adaf-7111bd400442 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:c9824947-f076-417a-988d-f09aeb72e58e phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:f7443af7-e5a7-4951-8474-6f4bada53b6e phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:587db85b-285a-42ce-9ea6-e387ff5b99f8 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_phenotype HP:0002401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30225196 uuid:37ee13cb-51c6-4bb6-ad15-6054d6e7a686 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_disease OMIM:616276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30225196 uuid:3d132872-96f8-49f9-b572-6cfd22c68915 phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:has_gene HGNC:19693 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30225196 uuid:68528bfb-0020-4bb3-8e09-a98f97e1bb71 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:36454683 uuid:4c263472-dd3b-40d0-bac2-3455edf14ee4 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:9fb69509-b24a-44f5-88f9-43452dac55dc phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:8544ec10-2917-43be-b0b1-16e48c8a17b4 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:a0677dc0-d41f-4db2-9ffa-00cafc4fba60 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:378c9dc9-e76d-4ad3-acfe-f4d999d71287 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:8d6a094d-1d02-4931-8dda-be49c501d0ff phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:afe065de-9c2e-4816-a2b7-eb7437366a9a phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:4e56e1ae-5530-4905-9da2-28040a8e92af phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:b85f022b-dcb3-4c17-a971-a6f9de1ec7ba phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:a7b187b4-cc40-459a-bbe5-703658d6b1df phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0031993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:e9b5428b-1a73-4c84-96c1-9053fb67fc9a phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:11ec1dfd-8b22-443e-bc9a-ff883a3cd219 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0010524 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:2ba3685f-c565-4213-8f4e-1db41350dab6 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:448a19b7-ec7e-47f1-a358-bb88dca57d45 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_disease OMIM:620402 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:36454683 uuid:b072dc99-0754-4c8e-962c-14ccc8dac877 phenopacket.store:COQ7.PMID_36454683_II-1 biolink:has_gene HGNC:2244 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36454683 uuid:ff24042b-dc5b-4ce7-b679-9bd3ded2c78a phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:36454683 uuid:ae8d788b-5f26-4358-9b12-d5562a9b22bf phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:c4d4c558-9e99-470b-b90d-251a785d6ae2 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:a0ec6e7c-0df2-435b-a7e1-303733d745fe phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:bfc1fa8d-6dd5-41ba-835c-fa95247ce7ae phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:f0291ab6-b84f-4949-b34d-3c64cb5b0edd phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0031993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:df66094d-701a-4cb5-bd4c-27b024893dd2 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:b5fe1c5b-a2c2-42a2-a147-eeb809072590 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:dd756469-7bb0-46a4-b3bc-d5271f04bb81 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:0a7e4eef-4724-428a-80e8-c9b594355f1f phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:c11442bc-94f8-419d-bd06-fee86ffff521 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0010524 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:701154e6-fa64-4d9d-8138-6ce3f47e90aa phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:8816e238-481a-4798-8fec-7e4b6cac5745 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:b728e30e-e9d6-4769-a9bf-a73c5e23a04d phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:020f2f09-75f0-4375-8cb8-08d58f2f45f7 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_disease OMIM:620402 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:36454683 uuid:d40d1c1e-f901-4cc0-9027-90d9ed5488d6 phenopacket.store:COQ7.PMID_36454683_II-2 biolink:has_gene HGNC:2244 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36454683 uuid:3de854a9-f509-45c3-a978-9f0b648803e7 phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:c5d2da2e-14d4-4c95-98ba-95d52ec563cd phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:d4eccab4-6edc-4fa9-850b-4fb0548538d9 phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:d7d0107c-7f30-4f29-8da4-3e1a2823a1ad phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:9d49ad72-2e90-47a5-a239-046b4b32c32a phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:a7cd4313-0e43-4163-ba4f-3cf5e3b10e97 phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_phenotype HP:0010524 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:516520b5-9d84-41c6-8aed-76b0305e3461 phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_disease OMIM:620402 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:37077559 uuid:f67736bc-def5-44be-aa26-d7e287eb5d18 phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:has_gene HGNC:2244 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37077559 uuid:ef5ba789-0b49-433e-aa08-33d1c73dd85b phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:c901b3ba-3b7f-45b9-85bd-c142429e9fda phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:525ec2b7-d9c7-4037-994f-26c3f5445b84 phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:75ba9bec-f003-4a1c-a3db-e2e576817184 phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:21238a63-9966-4f50-8c03-6defa2a18a15 phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:9f3d0661-ee81-4a8f-9989-de3b20a753be phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_phenotype HP:0010524 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:3da3db99-9641-437a-b0e5-3aa7199d46a1 phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_disease OMIM:620402 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:37077559 uuid:7eb70bd0-d626-490a-8a95-476ab402b399 phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:has_gene HGNC:2244 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37077559 uuid:8b24e6d9-3f37-48bc-a298-6500c6f2dd0f phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:721f995c-ce66-414b-9ac2-04e7e50ea480 phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:043fe89c-202c-4fc2-8500-5465fae6cdd8 phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:04cdba6e-fed1-486e-b1ed-bae0d5f3c736 phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37077559 uuid:912f3f2f-c9e6-4840-ab24-eba701c7384d phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:5ff120e4-972e-423e-9bed-b2a98188640c phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:399db360-025f-4c2c-ae4d-9a57e389e27b phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_phenotype HP:0010524 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37077559 uuid:fb772a41-9545-42c9-82dd-17b302e658a6 phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_disease OMIM:620402 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:37077559 uuid:da80f79a-98e8-4dbf-8686-f2bd8323f38a phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:has_gene HGNC:2244 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37077559 uuid:3c90a3c1-ba2d-40ce-ba53-683fd816288a phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:36454683 uuid:d04a184e-335b-40df-b646-36dcf7420a06 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:e97788d6-5f38-4a97-b918-83cc4605dd46 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:0c78710a-ae5b-48aa-98d1-cf014efafea8 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:1d231f37-565c-4a31-a995-c62dc9a179bf phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:86180318-6753-4e2a-8310-6af079a8927d phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36454683 uuid:3e38640d-bf52-4dfc-9c95-57fc3f735498 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:8c3f4a27-8c88-48e4-96d6-f7de30fe8195 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:1dcaf2a7-e5d2-4c5b-8c88-1d49d6431f45 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:beabff77-5499-494a-8908-dc34db74c2e6 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0031993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:68944398-1ad2-4a54-b73b-f94f4a52326a phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0010524 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:4fce912d-9eca-40b8-b989-972fba787b79 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:f8286c8a-9542-431e-9b2b-c49b281108f3 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36454683 uuid:218eb48c-fac5-411a-ac0f-276132ffc8c5 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_disease OMIM:620402 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:36454683 uuid:c690da15-006b-478c-94fa-490ca0ab3ed8 phenopacket.store:COQ7.PMID_36454683_II-3 biolink:has_gene HGNC:2244 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36454683 uuid:8d5fa0fe-ed3c-4e04-a2f9-4f6ecba12cda phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:2b730260-d2b2-4fe0-a6db-e238a6ce0b7b phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:171e725f-4bd0-4051-8d05-f6590cc6366c phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:0031295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:ba5cf774-49ae-4d06-b844-da97ca240e41 phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:0033534 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:fddf3b64-28b8-4160-9d85-560ff22bc572 phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:6000693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:0d17c96d-9050-41a8-b2b9-1b73521627c6 phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:6000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:8e2bda34-5f50-4ac1-af52-f48e51b054f9 phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:0004749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37913506 uuid:7659c605-9a72-4701-bb0c-e93179ce6d5f phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_phenotype HP:0012664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37913506 uuid:a7e52094-2fd0-4f35-ac4e-1f596305825f phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_disease OMIM:620734 biolink:CaseToDiseaseAssociation manual_agent observation P47Y infores:phenopacket-store PMID:37913506 uuid:2afb74b4-b288-41b7-b2cc-8f4857d334e8 phenopacket.store:CORIN.PMID_37913506_II-6 biolink:has_gene HGNC:19012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37913506 uuid:6ff7a6d9-0268-4398-bc80-b9da29929bd4 phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:bf8e9bf3-7fdc-426d-bb69-bfd8cedb5e2e phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_phenotype HP:0004749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:eacacbc8-0daf-4c74-96f0-48c66e0ea65b phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_phenotype HP:0031295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:bafe63df-4fff-46e2-8dd3-368b4e5fc128 phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_phenotype HP:6000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37913506 uuid:dabe6a08-4991-449d-bd81-4d511d229825 phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37913506 uuid:15af1e74-aca4-4c8f-8a68-4f80faa6aed3 phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_phenotype HP:0012664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37913506 uuid:07ac9618-3d2a-452d-87e2-ea85f56cdc85 phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_disease OMIM:620734 biolink:CaseToDiseaseAssociation manual_agent observation P52Y infores:phenopacket-store PMID:37913506 uuid:d15f5d32-39a8-4a7a-a0cb-40cb21521e17 phenopacket.store:CORIN.PMID_37913506_II-3 biolink:has_gene HGNC:19012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37913506 uuid:32a3dc7e-df54-4206-887c-13510a80e014 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8aea1622-99a7-44bd-adbe-b29dfc3d6f73 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37947183 uuid:8d7355ce-2c52-48a5-855e-e240386be4f1 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37947183 uuid:1f41dbd0-181f-4d03-9631-432fe68b6e7a phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4237c5e1-0599-4c01-8e68-33a78e86d209 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:63bfb5b8-ff69-45c0-8e5e-13b151900f19 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:356078d8-193b-4d4b-821b-58c7361e9be9 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:88eadfdc-831e-4fa3-bbcd-1f36946edab7 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f25c6d0d-b42c-4979-accf-ff1af7039ae2 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f53a0191-4c59-4a2d-940e-43b446c3c783 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d13767da-a5c2-4c40-8abc-75373374c759 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1a90c83e-8ae2-4ab1-ab14-c05bc8645584 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9a983068-295b-407a-9ccb-d9b51b155a6b phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e3c0a829-66e5-497f-8aa3-9ddaadaf89f1 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:49e1314b-1688-4fca-9f0c-c6645e484fe3 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:3ddf8871-ab52-41a7-bc86-cc2048b56201 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:051ad763-877a-4f0e-b4a6-d5aa3bdb62bb phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d1464c93-161c-46bc-9a79-925b455120c2 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb17e075-001e-4b16-b7bc-ee784522b534 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3f1f81f-e9b2-4083-bd83-852e12596105 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9ec4cfff-5dcc-4a93-addb-3767a391bdc7 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:36bfebff-63a1-409b-be9f-db14dcc628c8 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:badb9603-ec5a-4cff-aedf-5d8c14a63cb4 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9c6054e9-da94-452c-9c31-821393c16b5f phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:18827645-674a-4e56-b7c8-9aeb705f5cac phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6559291-fc39-45d7-a331-f89f980b18a0 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fd09a45d-e689-4144-aedd-d54efe44e3fd phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:91669086-a0f7-402e-8324-5feab164500f phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5302c951-cfe9-41b9-a2a0-e2931427c2c5 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f8b19cfc-b474-473e-9a10-865c00133ade phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ea96230f-87fe-4a79-a7fe-50ee331674cc phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d4baed06-7212-4e3a-9052-33cedce4a609 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8f29a8d7-1889-4db6-990c-ca723b78bc5d phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2bb22301-f2b0-4139-bc9a-9575d901cb09 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:15747396-4644-4427-8588-9e8e37a6fbf9 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d13c3c8-f4ec-40b3-9f22-58e94a1f8749 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:85d5a07e-69cf-4535-9bbf-b94e9b6f71d3 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a701297b-f34e-4604-97b4-f7978bfc0b0c phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:73e5ba79-bbc6-4489-96bd-80c4743ac348 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01de65dc-cd83-4e1c-81f4-46f904aafae8 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:52446e92-03a3-4330-a488-1079cce6a91a phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:caf5d209-2684-4198-88a4-5827b3752653 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c8eaa887-50d5-4dc0-8d69-993198a9c177 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:42f67cc5-65d2-480c-a2fe-94cb74987a6e phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8d9f673c-8d71-4bae-9e15-f42e0005f000 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0c2a3d19-d31b-436e-9a4b-30a8d33654e3 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d782eb53-772e-4688-ad6b-07032ae5dd45 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fd6e45a3-b729-4004-93ce-1cd14921d2e0 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5a2f4f22-41af-48a5-909c-700e51dc2908 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:54865895-541c-4c79-93f0-a02e5de98a7f phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0feb1486-883b-451e-8817-8a67b7853b69 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b337215f-aaae-41b0-97d5-c699e5b489ff phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fe1f2151-6dba-4ebb-be1a-79a24bc1eb7b phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7164daee-8597-42df-aa42-f814ae661b2c phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4ca4de70-9f47-4b3b-b0db-9cf7eee03102 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f57e52c0-2a22-43e3-b96a-e2d9f71c4705 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cd782066-6641-4cd6-849d-7b0598c67254 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f81bf5f0-e174-43f6-9423-871634ffe35d phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d86e933b-2ef4-4e35-a335-a4b7926bbee0 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8c987b07-12d1-4266-a231-a4d5506d2112 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fe615f4f-3830-47d6-9ebe-b8d6c4f40817 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8a3391bf-71be-4f7e-aa6c-3436cc1ead73 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8f245b34-2d6a-4b17-9d30-cd7b71229405 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7ccdcbc5-a2d8-4ddd-ba9f-7181ab1993b3 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:464a70f0-8a7d-47aa-aec6-74d0c937487b phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bfb80407-56cd-45fa-9985-2620458844a8 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3f6ed3ac-a4ef-4478-a2e3-e8ecdbf62389 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:86296e20-b596-4ee8-8df9-db3b0ebda6b4 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:05725f5e-e1d2-46a2-805f-6e0d857dfe8f phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bcfccd72-239f-4dce-8eff-9622a98da74a phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a8bb9f8a-c110-4ca2-97e5-1742890b9824 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:64772e01-ac72-4966-aaf3-09b9e854068d phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:53552435-0e0e-4fb8-8c7a-536e06e13a77 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6dee19d-c7ac-40a7-958a-3e333ed14190 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:08f223a5-902c-484a-b169-ba89fd19806d phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b2bb2ad6-958c-4d8e-a23e-10930120527d phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:53a438ab-6f8e-4162-9b7a-011f5ad090c8 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8ec1f991-476d-4424-ada2-34e1dffab12f phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:df825abd-80e2-4f2e-8032-af4b522be171 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:282e0c73-8e5a-4faa-8227-5253240f7d4b phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0a38adb0-0382-4eb2-ba70-52f615cdeaff phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7b654dec-3fa7-4c3e-bb8d-1aacd726eb84 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:62c6b4b9-b594-4b57-b8df-abaffb7b835e phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ddc2ade5-6dd9-4daf-ac1b-a184ff667361 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5ce019f5-e5d6-4061-9390-129dc63f1ee7 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ccb62ecf-2ee0-48ad-8107-61a9e514cc54 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:35c1163e-f380-4db9-88dc-9ca106cd39f4 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6682d29-e4b6-4d6f-b3f5-651721304697 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:faf37c75-2874-4ed8-abbf-eac940274ccf phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ddf23bc4-041e-4305-9603-e16720c85fa9 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:629b68dc-3c00-4319-a7ae-f7c1ea65eb7e phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d11cdb9f-2783-4bb0-b8b7-83cc2f81a580 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1cddaf19-22bc-4ae1-a137-d695a860868c phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f23501d0-5dbf-4303-846f-8c16a5884f44 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b2c0087a-f39d-488a-8fa0-786a21c34713 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4678c89d-04ed-41b7-b476-d6fc342fb55d phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb30d985-6e16-45fc-99dd-5b1253fcd57b phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:833d5e83-4844-44d8-a812-5197ad86de2a phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:532772fa-bd13-4c0f-ae57-aa6d4510ef5e phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8c0ee977-242d-4a1e-ae1f-c7a126d4dd31 phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7c5579ca-3f4a-4a3d-8fbd-731e8f4bb96e phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37947183 uuid:b07e961d-976c-4245-8664-7bc7dc641aee phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:35a1d3b8-365b-433f-bc1c-78dc08852a5d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37947183 uuid:35078264-bb65-4908-94a6-a6ec27c0f93b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37947183 uuid:db327868-5f87-4bbc-84dd-b7b7f541a585 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37947183 uuid:084032e7-86fa-4e54-9b5c-8e8f535402e8 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ec0301ff-0aeb-407e-b59e-00f03bbcb819 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d378acb5-1987-4d69-a32a-1085b06abae9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d02eee5d-354d-4cd8-b37c-673f32739277 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6c45b04d-afd9-47a3-b185-76c503cc26e0 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c15636e6-718a-4978-bfa1-85ff500133d6 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9a72ef2f-c919-4d09-a21a-df44a5a9eec7 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e33fd372-6938-4bff-a4ee-650a8d0ff614 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:61fb9fca-a970-400e-a19f-2ff18227af07 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e3c20822-d1f1-4596-a05b-cdafea7bb1a3 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc0f7bee-2b33-4db0-8728-f56021126a1d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f2fd207f-0927-41eb-9899-6887a3ccca4b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:669dfc9c-cc61-4209-96f0-50c8b7effb69 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40736636-22f7-4480-ae49-7ed6aa4a07b0 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eecac9f0-8f22-4064-a684-01055714a5d4 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:30d0e7b9-db44-4754-807d-94fe3ad05310 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:62113ea2-94ae-4cd5-a749-f896f2b93a58 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba4ab816-d9f3-4f13-b80a-1612e0cfc1d2 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b9272f9b-9662-473e-8e40-9eff91639078 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a7ba2628-7326-4e3d-b8aa-93f21407758f phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d6004477-c95b-42a8-aba7-8641d9c654d4 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7a61b777-8b6a-4ac1-a37f-e682dc0ff4d3 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:008773f9-61f3-41ea-9c1a-afd4548bb724 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bd8e0dbd-1af9-4823-b8c9-a464dd81959c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4da2d5ee-1524-4d19-aac6-8caa53f9bcc1 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:750fce7d-7856-4059-80a6-995a9db8c443 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:397253d5-7606-46b8-9714-4b3b8cb0adf6 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5398e531-2c09-4a98-bd88-8816065690b3 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5859c7da-3342-4d6b-89ef-59965669be5a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:89e3a758-0664-490a-87c3-0c26fcc2dc53 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0e1deda6-2890-464d-a9fb-a53707d05eb2 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2fef51c5-09f3-4e58-a8eb-4d322f179cd5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a951a7f5-4e3d-4215-bca5-c533b47a6a70 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2c4508aa-3ffe-4caf-9381-3cfde12382b5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc9950ed-81de-4509-a9d0-7be96c2d5a29 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5e2b87bf-e2cb-4c79-aedc-c8c78a01644c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:965441f1-4d4d-4ca3-bd2e-a83fa78becae phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:51c01382-acac-4e1d-b551-32c0f025cc5d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0c490de5-cf1d-4ff7-a23a-c95dfe523234 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2d72d88-64f2-4e21-b6fa-06816d915bac phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:714e3134-b01f-4644-a814-22ea8fb2d496 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1f7e4fb7-349c-49ae-9496-411241307a14 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c0645bb3-f3ae-4da5-a376-b64689d2d066 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eee01998-93d9-457c-b088-8b780e9f16e1 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:99606ae6-fd61-4cb1-ae24-b1a75f8a15cc phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:baf854be-28e1-4ddd-858c-6b1845bec855 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2aca2e4-85f1-411d-ad50-90b78f86bf7a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:958bec5c-f780-4efa-b0c1-cdad7577dbe5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:daec2e05-6ee0-4e8b-95d2-38ee6d1516a9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:28f6a82a-520b-46b1-9211-505e21d841d9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:375fae5f-9a1b-4fd8-a259-ac27425e7954 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a7ca1185-575c-4d5a-9c56-86cff5d44b27 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6db31fb-25e0-47e0-ac93-ccdb78bdf5e5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:58629e71-784f-47b2-8079-40ed626c21b3 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6bf96d8f-9220-45aa-a58d-176f4a5f3cd7 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:defc6947-a889-462a-9e58-d096394a526d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1fe92361-0fe6-4b54-80ca-e5560a304866 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:37a4336a-b1bf-43bc-b452-e927552f46ee phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d07ef0b-6555-466d-ac39-06f4b6555545 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7ef26ee2-ae6c-4f23-b977-0590d88bd39e phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:71658ae3-77cc-41a1-8335-1953e2b0e1c8 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e0391b3b-456b-4a0f-8140-3ec429563c40 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:106144f1-3f6d-4c8a-b7a5-04049d3354ca phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:19dd6eeb-3ddb-4dfd-b3c8-ef46b8dd69aa phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:26afd719-ed62-4d70-ad0e-ce47ac2a519a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4323d880-3c70-4eb0-b4a9-cb49e7a1cf6c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:de9aebaf-4acd-4495-b5d8-8887da5b1b38 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:646c5534-c62d-4a3d-900d-51f452233e21 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:730c5403-292c-4317-83b2-159478820ab1 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8eccdbfa-7121-4ba8-bbf3-0e6cd2c54840 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:52ade365-eb79-43d8-bf08-86167f690b25 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:748b5abe-dddc-4f7b-b7b0-bbb0cec89834 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bbd532b8-3042-43c3-9cb1-029304f75d4c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7cd1a971-4840-4d4e-8745-9540a5ad9aaf phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eef3bb9b-beae-413c-90e5-685d09f488c7 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6e626f8b-6572-44f7-870a-2f65402e0f31 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9f5eac90-2b1e-4cf1-b252-82c1ceb0b07c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4bb7a802-8b36-469c-b415-72aa3653fa17 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ec906bb6-6aec-44ed-ba17-c7d8fa0f5b8a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c6a6553c-8fb9-426e-9d68-6507cb03e23d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e2652db7-ff6f-4591-b404-b36750e5c571 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c23457fd-592f-47dd-b415-7fec303eb7a9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bd3c7ccb-22d3-449d-b888-0769461ecf06 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1aeb4eb3-1348-4ae9-8a57-a68c0d978c44 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0188bffc-9237-4b11-a775-d4772d272803 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:133706f1-7040-41bc-9e02-09fbed4a271f phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:aee8eb12-c742-4111-ae39-84583273c1ad phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01c4f101-bfb1-434c-a39c-edce1a055f34 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31ac3eda-7bc1-4de2-804d-979314086f46 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9fd59be8-a789-482e-bd9c-5e8556eec290 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:860deefa-b049-4411-9081-9564f555509f phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ffccbd92-2048-408e-a516-0e1aba8c1ec5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f396376f-2d2b-4e20-a80a-df58250bbf80 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:243d5556-d35b-4847-a72b-24b7c6ea4052 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:58b6f49c-88d4-4f3b-978b-ab26cadf50a2 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9d246fd-81fa-4465-8e62-abb1f4fc4227 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37947183 uuid:5561558c-f9ff-419d-85b0-972bcc890ecb phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:56e652b8-2286-4dc3-90dd-60d9316e42ca phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:abb9bec4-90db-401d-aca8-bcf214245cd7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:f2b105b0-02ca-40b9-86d0-484c4f309403 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:97e8e9a2-be5b-4919-88f0-15a1ff63b8a2 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:bcdfcb9e-2d10-4469-ab53-00fe36b85e31 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5b3544e4-e957-4d4a-b439-6e0f0d376923 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:757cc3b4-2405-429d-98c4-22e7174e6354 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:896002af-c0dd-4123-8e78-95f9e7f6327d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:519b039b-1c5b-4a75-b342-830d5a0684b7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:73943fb8-952b-4aa2-92b4-718da5e67ae2 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:63f9cc0f-9bc9-4e44-affd-000058dac54f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1052558a-6f94-450e-b421-6309a5941b00 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:66b3d177-b1d1-4933-9895-92a8c1f77227 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cdfd0cff-e2e4-4753-8dbb-286b03cc0c5b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d25d5da-445e-4bb1-a27a-69095672d798 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d549d811-3e29-427b-9614-1a088b743777 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7e7172f2-4118-4087-a20a-d7b44012ddd1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f8e7a6c6-2f08-4d49-9efb-e526fbb3ca7b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ab592fae-7592-4ddf-b9b7-ab0320398938 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc4c0ea6-91b1-47fe-8437-a2a870e9e997 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f53ae230-b77f-4c4c-8f5e-254b01546812 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e15b1ea2-14cd-4465-9fb7-68f07b6b21fb phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:401b3a3a-5dd1-418d-a406-611a13f75b9a phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:247e12e4-d71c-4385-8022-43acea8947fc phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:435efcc1-8dfd-43f9-834b-26c96acc1419 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c82f20c1-24ed-44bf-9843-4da5ca912c35 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4145be5c-0d6d-403e-b356-e45573dd44a2 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8b4db09e-659e-4085-9cfa-48e40871845c phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:679fde82-5429-4060-8c68-90bbf39325f7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:13244ba3-fbae-4ae3-995e-4a689e5dee1b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c952a640-97a1-4231-bb4c-b5532bc3ccf3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7058eb7b-6991-47f6-8d0c-30d3870714c0 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3a0bcfed-30fb-45dc-a79d-ba17d4709447 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7bf41f84-90ed-495e-a723-c2057302d1ae phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b34196d0-3543-4e3e-8630-0a7fcd512365 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f31f6860-a8bf-4dab-8410-af4f60fef40f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9cf1b79f-5b2c-4a3d-a314-ba0a95339ad1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3aaeb0be-2d2f-4dd1-8927-31259bac1d4b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:962a635d-2adf-4dff-a8c0-8e72f216189e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e13e6fa1-35ad-477b-97f5-c923c81a7adf phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7228e68a-e284-4c7f-8346-e50d36a1e29e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:610b51bb-bafd-4533-8aa9-123e9db1cb5f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1ddf818c-a755-45af-b59f-0d1dd1fe0da1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9cc0f58-156b-4a76-991d-8f2f4229fd54 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d25611f-57da-4301-bd33-b1613e59e42d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b83eac33-ca04-4900-9a2a-4a2a52c8e1e0 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5ef418a9-651d-4016-8519-296c8b53ee24 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:26ac047d-2bbc-48a8-ba96-0e2bfa025657 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2644743d-eb27-4c3d-9f06-32a299e73a5e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:aab69788-6b35-40c4-9b3e-a1465906ae14 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:690c6192-bd7e-4d12-9e90-85d134dec584 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:831fa61e-1b0d-461a-8ae6-5a43db324d00 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e1d2f3a5-0d1c-450c-a593-b6211d5fe6ae phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c13d42a3-c94c-4828-a6dc-9786cb61e6f1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5b787c95-219e-4185-bc50-980b487d2389 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:318d0b41-069f-4f66-9260-a4c21366bb36 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:60260d09-6a61-41cd-9b77-84201dfe2bc3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b66778a9-dcf4-488a-9ebb-5ead84c324a3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8615318e-ff26-4fd6-ad52-564baef23a8e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8212182b-e5b0-42f9-8832-e619ff44e8d7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31d35313-6691-4561-a631-2c4b2d9cf90b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fc4e84fd-19ce-417e-a398-d885f1ffafaa phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3f3bdaaf-fcea-4ce5-9150-9a542111e175 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8ec8c26c-1896-449f-8fab-36497ac8a5d6 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c581ec01-2755-48ce-ab8e-2003470acf6d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4bf719c3-5dbf-4a3d-97e8-0b55004faeaf phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:90c2b3a9-f06f-49da-b1e9-4245d8a2f00c phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ebe06b8a-7716-4608-8543-1d87f37d0b14 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d589dee-1d82-4e18-89e8-51dfcad16c67 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3a2568c3-99e1-4399-a0ef-8f9dae1544ec phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5225e9d6-cfb6-4ecc-a3dc-4c5569cb7a54 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bee6c565-150c-49d5-8618-9d2cb3e3fde3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:64b668a6-f927-4e35-8b79-b7e2796cdbf4 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:95d9e180-6f6f-48f8-9866-7439e3213da7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:355002cb-ec8a-4f16-b89b-9e73f2694903 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:55600cab-8156-4c25-bfbc-49ed931bb411 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bb7cc2a5-da40-463f-b37a-e93eec574850 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:caa5594d-2337-4e4e-97f5-99cd61afe309 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:75412d0a-ac8a-4178-ad24-6f5b08fbda0e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4bf00fc2-7b67-4e94-a69c-be5ef11e034d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f2f6df0f-4948-4b27-80df-b05203000cb0 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:52eb6139-5b84-49e4-a76d-b6d2fa097dfe phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c1dacc06-2a11-4fc9-a190-b04b2ac33695 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cd093e2e-a5ea-4db3-9504-43e6c11c263c phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:64782736-6778-48b4-b8d9-589ef98b56a9 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:91f326c1-7db8-40eb-8c9f-1b1857ecbfe0 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:edece7e6-0a76-491d-ab50-f398e66db46d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c1d17842-df52-471e-9433-747064c8954a phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6f6e9e0f-a467-45c8-8cb1-f6c1983a629d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2a0aff20-39fd-4b88-bf78-775ace6d2bec phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:84ea397e-db32-4687-ae5b-2bfdbdf5bff3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e02cfda2-5228-4f3b-b59a-564337edb3ba phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:994d2fb1-9cf4-432a-85ec-0e210cc258e4 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a239abbd-b506-4367-8a50-e129a2259c1a phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5562531a-cb24-4435-9257-4830f405f862 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:11afc3a9-6fd4-4cf5-8fd8-be690116296c phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d6669163-7407-4579-b7aa-d113b7f141b5 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3cb7da9c-f4cf-482d-b7b3-210e15a77719 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:921167e1-f068-4c02-9d59-3c844433a530 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37947183 uuid:d5309a7d-a3e9-439b-8731-7a73dac860e1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:a13200cc-df11-4f5e-a372-2895dd8b8f7a phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:627a4806-551b-41d1-86b1-667e254558f9 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:37947183 uuid:0eafe65b-19b1-4517-9bf4-c369cbcab973 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9af99154-ab9f-46a8-82c6-58ec6ff8a63c phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:2adc3a80-d727-43f2-bf63-4eb5dc68a052 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6b994ad3-c62f-4751-8a8a-d028de84bd51 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:84f15461-9fa2-4417-a00d-77f82563d085 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:746f07d6-8ea8-4bd8-b9e0-807fa7d79970 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5039dd50-e2b3-4027-8ddc-7590bcbce1d5 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:11c4f53e-f57d-4a33-9c6c-a7652e4f0e5c phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8240f6de-607d-4b2a-aaaf-54df8921008a phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:cc6453c7-05de-42b1-a535-e2be41e0de6a phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:58adf1c6-b02e-4d59-bb24-045124a5d8f8 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ad2d0dd7-c774-49bc-b368-cb7f9a676dad phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c5e68813-3ad9-46d5-b261-0bf026d492f1 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:74b0ab15-375d-4cb6-a8b2-9e7cdfacb4e0 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:81e4e792-0e17-425f-b992-6954b9d1b4bf phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2bda8d9a-7b56-41ff-95b9-b6fc1dc466bc phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5e77c13d-6287-477d-8221-f516417df142 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2b80d20c-b850-4010-b99d-57af38572d56 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b7c9730d-0dcf-452a-b53a-212092f23a49 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bed242fc-80db-4390-ab5b-07e2eae4cfb9 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:113f1325-16a7-4598-9013-67866c138fc1 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cb738c0f-94ff-41df-a18b-0f79a21750c1 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:be48a765-c770-43c3-b83b-88cbb8886cd8 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:49dd82a8-9b01-400b-8e45-098d20f77043 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:18ca9b02-1e4c-4f08-a5d9-f8d95fb72357 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:06fea88d-ee43-4aed-81c6-be490cfe3c5f phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d19dd810-2db6-4357-a3ab-73f203732d02 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0294f3e7-e107-4b73-bca8-c9512b2862ba phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5858b382-7dad-4565-8553-5be168224820 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7e3b25ae-a9a8-4f37-8256-59719fdfa011 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7087d7bc-ac32-4bf8-9567-99294d945559 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c4968ac3-533b-4574-a50d-658845ebd5eb phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31a05bcd-a970-43fc-a8fb-8e17ba725b5f phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:44f5c3a6-b5fb-4e8d-b32d-511e8a3c170d phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9fcfca99-63f6-4f31-8070-dcd87939a8b8 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4af4a154-7236-4cb6-ab7c-6106533aa670 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:80bb8446-eb2a-4357-867a-0207bf5d98d9 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f6a709c9-cb14-4a1e-bf09-fbc9accd8cbe phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c31127a4-6fac-49b1-9fbb-2c6a5ca5039d phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:99c959f6-b723-4af6-b0db-23d9ba6df760 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:02cbf853-0081-47d4-834e-009c9b2850bf phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:08dc4d1a-ed54-4fd0-8b67-198235852dd4 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:319dc606-705d-4c6f-adcd-4aebd444a06d phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9b3b85bc-a4ff-4551-a67b-0301f086ec62 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:addbab0b-a299-41e0-8d30-1113d1ad6fe6 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bd38a6c5-5700-4db6-ab81-082fbc531f7c phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9ab14d4a-fc61-4b59-aaf4-d34bf7f0c4f3 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:59d209de-b161-4a7d-b6d3-771f045e8b16 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:126ee749-26ee-4597-a15e-baee7374674c phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2fe588b7-c100-4294-a0be-bbce7d00899f phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f5f4eead-cd42-4f29-bf05-ded7ba9905fb phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:adf9c85e-088a-4f11-9922-e5fc6d39372c phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6a1fc87e-0e5b-4eba-b002-622a7c229375 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:83ef7164-6b5b-49e9-9ed9-89bbf2ddcc06 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2762f0de-c6ca-4d29-a6ba-0680695f3b62 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:999bd28b-1a31-411b-aa99-ef02df3c74a9 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fad49bd8-7333-4841-8870-4ba510c53baa phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dd2551f3-6e4a-4c25-aaa0-2c91913cd741 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:795ce0f2-8f01-49bd-b2b6-933f429dd4f0 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a910ab40-b25a-497b-8ee3-1cd0bb321e0d phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:666fd866-7456-495f-a1a1-30c3a5d75e21 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b39c42a3-6ae5-4239-aae6-50ac96063a28 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1bd58c59-6f50-4e94-929d-3427b56260ad phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3cbf7e8d-152c-4574-a8f7-ccac64f7f040 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b8403d5b-cd96-427e-8cce-af811e9be6d1 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2b7e7b3-e72e-4f0c-8335-d23ffc601ba1 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:69025300-ab7f-4776-ad27-185eb26bb868 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e2fe64ad-7008-4fc1-8ca7-566068a50c05 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:26e44a74-16ee-48ea-940e-951f110685d0 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4798a828-a1fa-4982-b66f-cda449e4bc50 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:adc7fe9e-fc09-4e97-9d2d-932bfbd4c306 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:62888ec8-8f46-480d-bfc3-fae539c4f548 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6446bf3b-9d2f-4c06-a2fa-3bb6d1d63039 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0bb4836e-a73c-4f6d-aed6-b116f9c8a835 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01ed00fd-4d32-402e-b4ae-927cdd5ef155 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ab2fb877-8600-4314-83eb-275b9aa2e9b9 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b35368e4-c91c-4242-a401-7bf4d27baa0b phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a81225e1-cb9f-455e-ae72-1f3c8eaa684e phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:91c18275-8e99-477b-874a-c5764f53ae8a phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:aae08bf8-0221-4557-abbc-e1cf35f1f983 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4e56e57f-c0d9-45e2-8720-b4566c4c228f phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6798aba4-78ad-4896-9844-78b58c778771 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:24a4ba67-81ff-4fc6-af3e-d76d309a53c3 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8cf36c64-d834-4d83-a6c6-62787397e476 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:50f92518-de9c-4a8a-8a90-6da1914a2ada phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0eb9eacf-a541-4590-ae73-68c4ff1ee8ce phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6f310db4-eb0b-43fb-b72b-ea681f455e9a phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:87d2b8b5-f302-4122-8b0a-bd00ba4b5330 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f48b2add-91e6-4a25-b7ef-fcc91701bfc7 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d4f75bfe-f362-4847-afb8-20cd45746f5c phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:83e4eb49-b992-492a-a971-cc6cc3e811f4 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d94f948b-c908-43fd-a0d2-85c225eb0c96 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:abe5ec16-6180-4de1-b640-9811789d9a6d phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bbcb5041-1bcb-482f-abdc-6399f292cdfb phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b6e0adfb-e648-43ae-80f0-a9147f6fb85b phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0b05da21-7562-435b-85a3-5a56d20735f9 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9188fe23-a959-429e-b7e3-210c8f24fd1a phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:465f1ae9-6a35-4805-8a88-cff337763dba phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0c5ca66b-93e8-44e8-940f-56fa03f455be phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:37947183 uuid:2df54180-9079-4e61-b1fb-9016b65f8450 phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:c4c2cf9a-f2a3-4e35-8dda-7079b854646b phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:has_phenotype HP:0011577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12632326 uuid:284e7825-7da2-452f-90b5-7820473adba2 phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12632326 uuid:8afea065-be57-4a66-bb94-d9d17e3699f0 phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12632326 uuid:2af4bb46-3e26-4db9-a68f-e1103cc35613 phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12632326 uuid:a465eb60-d463-481e-bc51-c444a1a0e7ee phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:has_disease OMIM:606217 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12632326 uuid:fba64c0c-c6c5-41a6-8ee8-73aa8a092bcf phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12632326 uuid:7515d34a-6d52-4bcc-9895-a4d1c583388e phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:has_phenotype HP:0011577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12632326 uuid:00a12c57-aba3-42e7-8153-e5b4b65a45a7 phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12632326 uuid:53d345ce-1399-42bd-b1a0-146ac3ddfe0b phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12632326 uuid:8814dafd-e891-4389-87de-70185dfef27e phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12632326 uuid:e8466680-d944-4266-80fb-05c7b31cb3d2 phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:has_disease OMIM:606217 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12632326 uuid:b3317742-f9e2-408a-8433-2c53e0c51baa phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12632326 uuid:de3df7a3-4b66-46b0-81cd-44cbfcebf404 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37947183 uuid:4ddef598-e4c6-4895-84b4-7dda52dade4d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e0a09718-6e3d-4c93-a6d0-71ba18f852b0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:fe68cbe4-3b0c-409f-8811-2b5c893e464a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:315da51e-fc41-42df-bb66-39d23ca0352c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:faaee612-3eef-4e9e-ad52-89823c428737 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d35d6e41-58b0-4516-bcee-54620c09ac85 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:2f2396e9-9f66-4938-b2d7-25387e430e5c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:3f1a8aec-d480-4b9d-a234-8c7d83723e87 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:fa1f19a5-da14-4e6d-a710-228381c760a7 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:94780a1c-70ac-4092-be60-bd7cd96279dd phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8b641021-4bbd-4020-ac56-d0b530ca9b68 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:3a8f1946-3177-4d18-ac2c-0d0f6871f983 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:b4736a27-0511-4027-b2f7-47a8ae4c6fa8 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:97189424-9e8f-4fa7-bb39-677305988c76 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9f79268f-2d06-4a88-bf96-f5a4cd62f7df phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8a42ff6f-1a04-4069-843d-d999037c7eb3 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6412d48d-f8c8-40d0-b245-569f6a10f14e phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f8545551-e049-483d-a6b7-263bb50764d0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f6bb17f3-b400-4867-9f5a-ee5689d3023f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:230cf836-3358-4a48-ba2f-e629f0e74acd phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:68822b84-5fa3-4069-823d-8273174bc87e phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:059647a3-1b75-4295-a075-65b22396b36b phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f1840b55-2307-44e1-bec5-e72093e2239e phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e7774999-0681-46f2-9426-56057b7df0d0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:61c302d0-eb56-4062-b3e4-9b14c51e8137 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a8e70607-6696-431b-976a-f0c78b060ceb phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:197357a8-80ed-44a5-a232-7cfbe453b5b1 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a9f44cca-8c0d-4fda-9f68-0c405c67d89c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:81aced0f-2919-46b4-aaad-a21433094bb9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40bc36c9-a4f6-48e5-89ba-ac4a61c3d68d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:48e7d7c5-ca7e-4e79-ae43-f7f5e179c0d0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1a2ad436-cf50-4974-86c2-4af37ae1135a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f21c8bbd-39af-469f-8d06-a051b07f2b7f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6eda9278-8cce-4f65-b4c8-99ef0b741945 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:abf19dac-ef9a-4966-84db-42a9b2b31cf0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c14ece19-1f30-424c-a7fe-19e3d0c63ed6 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5bb0f818-91f6-4b20-af25-f215bf606f87 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:528e2c8e-6cd4-41c0-9f7e-2855587f8c35 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:02d947bb-082a-4dca-bf84-6e50b4c4235d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:08469004-5c67-4ca9-b196-04aa7978cb36 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4df747d4-c8eb-4ec7-bca1-2c98e2a81553 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3291835d-a133-4214-ab82-113c87a78ba3 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b3f04291-42d8-4d10-ae51-6d69b3fb7bb9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eca52596-3bd7-44c2-8d15-005c501592cd phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f770330f-d0ca-4fd7-9477-349f5d05ceae phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f2b3ad89-f4dd-4fbe-bec2-93af0b81e259 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b3d5d313-e1f5-486e-851b-dbd11ea5656a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:76528703-2e38-403a-bc6b-b2af21c628f9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:88628aa3-c42b-4f97-b0c5-ed0c11faae4f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:04fbebb3-579b-4170-8dd3-064b7f610816 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:912f73e5-a891-49c8-a6c1-b760d635a949 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e98a6617-e9b1-49b8-bbc2-842e965096e0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e6c1188c-5191-4d24-8fd4-043eba94e112 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:00c9004a-ac81-4ef5-a9c8-7e117b8b28c4 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:848930d5-8d7d-46e6-a491-8856dfa8c10d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2855fc8d-5f95-467a-b156-60a15073208d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:93f10ad8-7e75-449a-9fc9-e2f9b4194ee6 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:34e88c8d-24d2-4742-ae68-b5081f351eeb phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e1befd74-a750-408e-bfe5-f3870c4a9487 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:55453753-7832-45ce-b4f2-4d5885a19600 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e3d2af3d-30b7-4dbb-a79b-3f4c71ea67ef phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:791638c6-fa71-4a60-ad32-2fcaa15d0494 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:98f363f0-4f14-43f4-b5f5-3ed41c77d200 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:473a787d-5b7c-45e9-a55e-b8ae79d8da97 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:07fce565-962e-451b-a2f5-5108ee60918e phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8c9d5487-3c69-41e0-bc38-22bf0a952f13 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ed4356d1-9f08-45fc-82ef-0333e7769419 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fca5540e-a0e6-45e0-8ba6-0d482717102b phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2436c7a9-8b03-4834-9378-b7ac11340412 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dce7492d-469c-4921-9389-efcf2365daf2 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3401b5a3-0608-45f7-886e-34a1915213d6 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5099642f-0f7b-4fe1-81da-17488b5d9b48 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:70809727-c060-46f1-bc28-7071ce91f275 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:766e7fcb-38c2-4cdc-a511-30fa23163cac phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fc08cada-1bfb-42bc-b064-892518451db5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c83ba05d-0709-4ee1-afa8-6b88e39b4250 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:50c5edc5-3d63-42e0-849a-06c55a76826c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8c455fec-9191-47aa-bb06-0abb3820f5e1 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:51ab19ef-34b7-4d91-bf86-028e4c77f673 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:21205b92-89fb-4f2f-b94e-00f2b5b49f73 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b4dae39c-aa5d-4609-977f-12767c9e81d9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9d08558c-73d7-404d-9b4e-f76520f4f5d8 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d56b3b83-992f-415e-a12b-e077f2c3ff5b phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b6012463-4ddc-4fcb-ae31-bc8226862a90 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:02a4870b-6c7d-40d7-a5f2-d9d0ecff9510 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f2a48f8e-5a57-4a28-9d3a-ebbc7986c9be phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01b536f6-ca7f-4e34-81c0-98d1a0c3ae9f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:75f0f567-a258-47f5-93a5-0921aebcfe5f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2e2103a9-6fe1-4926-a7e0-5a064b2265ca phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5a5f3756-7cfe-4db7-b6bf-333053a2b930 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:06e74d62-9a6f-4629-80cd-ca2a0ce5bf91 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:406a52a1-fdc9-464f-947a-dcadadcea141 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e1274861-f12a-4104-aa93-66e5d36321b8 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:33f65dab-8027-4c00-8d7a-61008e344566 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:825ba703-e29b-4163-813b-51d92313e561 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3a60f921-6465-4a5e-90b1-ce3bdbcd23bb phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:17a40148-b1d7-415a-96a2-cfd8485e2869 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5092001b-dafe-48c5-bf26-369e9396c72f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:51bb7335-b352-4cfc-b95d-db49990b6d99 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31728d9a-8676-4664-8bc4-1a4d864d474d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37947183 uuid:5a7ba651-fca2-4083-af08-8225047c0bd7 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:f79c543a-4d5a-4fef-9e7a-0fa1acfbe96a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:32a6bcc0-1d7d-445f-830d-530949a3e646 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9a10e051-61bf-4642-8045-204c0588530d phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ed5a92fb-a55d-47d5-a1a2-964b2e8b7830 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4f8a85dd-7b26-44bf-83fc-2508b050a8bf phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1081f377-0468-4552-9a9c-0333ad59e0bd phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:babd8970-176d-4c18-b513-beb022a16a7a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5e607f6e-b0d1-4668-b329-ae6b4e803605 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1f54715e-131f-4ae5-95b7-303ebcaba92e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:213cf6eb-d85a-43f6-91e5-eaf31ec6bffb phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:41c8d24c-848d-4283-8ea1-5f7bc5424fd2 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:cc802dd6-72c2-44b2-8ca2-dce302fc88e4 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d791d716-4c43-4fce-944b-81bae08b5081 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d879b5d5-4504-4e78-b13d-bc38eedc2d66 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d5251c65-bc79-46cc-9518-a69e1437360c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:20740ec9-fb87-41e8-bc9e-8b256a768fc0 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:7c97f509-5972-4c9b-96b8-e1ba18031ad9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a4a727ed-39f6-4442-b3ad-7771481c1649 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:df9c4d00-ff3c-4afd-9247-72d607324417 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9d88dca-f2be-4be6-a911-1996a6a77a8c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:187874b3-a8f3-4e01-9f87-a23a995c24f2 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6a6c97a2-8497-4e99-a957-c9a81d899593 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2624659f-ce45-485d-b6c3-25b7e4c3043b phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1a82b38c-60e8-4936-be41-bdff532ada71 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bcdd9223-703c-4c0b-ac8c-0dc90c9409f8 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ad6511cb-393a-4536-ad2a-dc2c1c7d76d9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d86a3126-05fc-4635-95bc-c7230dec3a5e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e6943854-23aa-40a5-96b9-9d220ad1d210 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2072d56-abfa-458d-b1ae-565dc27dee41 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f55b5b5d-b93c-4a94-92f5-980b927dd659 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9a1addb5-96e7-443a-9051-a5e0d75f84d5 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c787bd66-587c-46c6-969c-6067ee8f5cb2 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:11fdc338-3526-4126-be32-5f2b3e4905d1 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2a0a4491-0eca-47a5-ab6a-d2c0ac8aca25 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c8b72e15-4d7b-4707-85fb-7ade1de96ef9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9ff15405-b953-46fd-8aac-792c16f0f820 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e50869e2-ec4f-46a1-9895-35d68d6350b9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:58ea49d6-599b-418b-92cc-0bb96e2a7dd8 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b8a7cdf2-d7a7-4e8c-8070-997ecc5a146a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b6fec9f9-44a8-4aee-a7cc-0bd6e7c47d1e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ea851332-c087-4553-bfbb-0b9256ed87c0 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:529d7225-c7d1-4eb1-84ad-7dd55c07dfce phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:97e692df-287c-4a53-9c5b-ced2e90a0aed phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:80336a2c-9082-4cb9-ad9f-7075ef65582c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ec29916d-5050-4c08-907a-3646a9a9f9dd phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6b45018e-d4b3-4039-aaf7-b6beb4ebddf4 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:df9a8002-d5d5-44a1-aa2b-482349f2918c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a50fe6ec-4e24-45f6-8933-e27063d1c94c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:829026e1-3497-4858-8409-b6ea3892eeec phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6a0cf1be-47c1-4102-bf81-9fb435c75c2c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:274b943d-5104-46fd-a629-bbf013603f6e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b688cf86-9a0c-40da-ba5d-fdb2fd2b87a9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba998c32-3289-4f96-9aac-d1634b533013 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1ca67f10-e113-44f9-8c43-c01f38cf9eca phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc4324b6-7a17-46fb-b651-7722520e4f31 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:852063d5-4433-4a1b-8f91-4f6a9a43f3a6 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c8a94f0-b5a8-4b13-b565-a1ada22318a0 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4df8e264-9282-4cf9-84a6-f13211258993 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c121f6a-186a-4472-bf66-4b2b50d7fbd9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4d62a3c0-184d-466b-a093-b077971a529a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9c3f2730-6e5b-4e36-82ff-3fef48e098c7 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb25849a-1902-4913-84ce-44388dabe46c phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4b3ebe94-7e98-4385-8f29-480181f6fccf phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4ad8bfe0-195b-45fa-854a-7039013956cf phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2c443376-86a5-46bb-a67e-9fe51e19cc92 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:750eb634-11ba-4b51-9c84-858869100c14 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6007c9d7-b60f-43a4-9d69-0897346ebeef phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8fd2da97-ed5c-41b1-b8e3-5896efdbc55b phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8c1ffe7f-ef22-4a98-ab13-85e0527d43c0 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f0a43269-d102-4a6a-b1f8-c03a1e13450a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dd0dacec-6fa7-4405-ae3c-853c9206037b phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f6f70573-c88e-4af9-bd89-9b7c55eba496 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:afdf0d44-3a31-4dbc-b527-c05a499315c8 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:534502b9-8da0-4afc-85fe-3901016e65c9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cb6e652f-c3e5-4b6c-a49b-3be09d5f1d21 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d3362779-a5e7-46e3-bf93-e61c75a17f0e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0925ccaf-1dc7-42f6-b0f5-245f0eb3d32d phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:081f8cf2-975d-4758-a862-1f5dc439897a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a48d3c78-0fc8-42be-867e-4d8aa920b021 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:65a2748c-bfed-4348-814c-249e6810c4d5 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8fc92f44-26c9-4d7f-b350-771243690eca phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b8c794d2-a5f6-4b93-8f1f-73d731116e1e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1775b9ca-be60-454d-8479-6cfa0cb5f70f phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:61126123-6572-4abe-9657-128a886699d9 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4a52a159-3e34-4489-acb8-cf1e93b88968 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9f000613-3fac-4746-9091-34ee2b3f8d42 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40e38987-f0bc-4ff5-ada9-6e7886d6a3e1 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:558145aa-abb8-440a-b98f-797a45e1dc54 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:063560fa-94b1-4272-b387-32f62484779a phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8eab6284-4772-4f6e-8985-efd3a9d8bd25 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a3a632d9-b3d3-4586-9bdd-ffab9a06c390 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bfe06ae0-e6ee-4983-9dd2-743cd657ed77 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:00440e1a-171c-4bca-a7ff-19661e166f56 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ee5e9820-19a0-458a-b689-b41c28b14ce4 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a31ec3af-7716-428b-a25e-d9ae4ff84137 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a71ef6dd-15f3-4636-b1af-317cfe2be7f4 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a7ac6f21-c36d-4759-a74e-d4b4b37c15a1 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3ca4d002-6f11-4db4-9bb7-85ea24274e1e phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:41058e50-20e3-496f-852e-cbf696aa1df8 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a90a7dab-bd83-49a3-a301-667793701462 phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:809a1ba1-59da-44b9-ab2e-63b4b0db00df phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:737df0ed-98f3-43bc-ab41-01ff35cc5136 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37947183 uuid:cd510d44-8e31-4cae-9a55-5bfb4540ef67 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8e1a5cd4-20dc-4f79-9d21-b0e69b58675b phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:77f7e916-2709-4f54-ba1d-d9880975340b phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e9eb7f30-c0f2-4945-ba57-269698002268 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e6d050a3-8ed5-43fa-a5de-bf0fd18601b5 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8e46fd35-5655-4e9a-954f-8e5d87cb9baf phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c1b372c6-a3b3-4c64-aaf5-fdee0c1a9812 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cf8a462b-e372-436b-a91b-5d8833d79829 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bbbfcf17-ee87-4d93-9833-082a360cba4e phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5b8f27ce-c9b5-4713-94d1-880762172272 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:68f20742-1514-46f0-b774-5c4c7b85431c phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f1a040b6-f9a6-4629-a642-3f9da4ecf286 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb46002c-0d48-451b-be40-bbbc19acf211 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f681c5d2-e16d-4279-9c6a-7fdb46febf81 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ed326e6a-2860-444f-b4ee-b3f3f864d11e phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d8d7e1ed-847e-461d-96dc-fafb1461ccf9 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:90b44504-aa2b-435d-a4e1-ae52fcb9aabb phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8404aa1b-f0eb-4f6b-b38d-0e8b786dcf9f phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:27cd07be-3d76-4f98-9419-ca14015e3f12 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2e585d2-4674-4317-a8a5-bbc6cbaee450 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:45cf2345-f912-4987-bf87-af669b5db9dd phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb58f741-c5b9-4504-b654-9ea850f9e075 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d7d9e55-84dc-4bb8-a869-ba7937838102 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:deea4600-aa03-4e51-8542-16abe71fa214 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:04e1e1e1-6e80-4e69-876a-8851ffdb2ef2 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:94333cb2-cc9d-4493-bf1a-017a32c80a9c phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:29e6ecf4-3e7e-4460-9314-5e8dd6ad04ef phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f265842b-9414-422c-b8d8-bd218f427fce phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e5fd21bd-1be0-416b-8f3f-7319562e6ac3 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:75a5cd81-feae-4967-9043-55ee4d0a40a4 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8e4d117c-44ae-42f3-b22f-562657cbc321 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:88ceed72-491c-4ca8-9063-d472e4734b02 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b90a2ba2-9a42-42ef-8f75-592a5bab05bc phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8de4d43c-0d70-4c26-bf96-c184d0e9ec20 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:54b0f50e-49d1-415f-ae05-1f72dcb7ddbc phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b962c5d7-bcc7-40c5-95f8-c9a34f61ebe5 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6243b991-cf3a-4811-b2ec-7a939a64c436 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3928ff42-d485-478a-9373-26deee830f5e phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:98df30ab-7cce-43a5-b3c1-f09e14f63dd4 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:95f6e12d-c4f6-4f05-a420-a22d86f6fd2d phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5dc9bff3-5a23-4e6f-aa3f-5d10a33b7d77 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4064e375-e3f8-42c2-b807-3aef660e5f99 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:43ab6578-356e-48e7-ab2b-68ad079bbd9e phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2934162c-f13a-4fc0-9654-f74a9c0ba73c phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3f64a38b-9a9b-492d-855d-1d7969e05dca phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:48767606-fb2e-4bf3-82a4-11a21da7ac03 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:28fb87fe-5445-4f7a-bf1e-7812987e062e phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:93cea8d3-234f-4765-ae15-6bafc9de46d3 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b36cdfa1-ce2c-4d5e-ab88-aaa9c5677211 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c8177be-2ed2-4f40-ae00-58f47dd85f7e phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f25b0899-9dab-485c-ad79-846a02c520d5 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3dbed65a-9398-47b1-b1ee-4d5f78cdab48 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1e3e9049-cd8d-4736-95f4-2cc65d8b57aa phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ce4e2e16-63c3-46d9-8f09-afbc7bb70421 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a354096a-1b91-491d-a3dc-a66b30607ca8 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6d1b8445-7f4d-415f-8542-e8bd1f0850bc phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca9a4b4e-185f-4b82-b804-d8aa7c542ce9 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ad5aa2f5-77d2-41e6-9be0-c1a38912a1e4 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:36b10ffc-9d72-4d88-ac62-0dc28d5f3768 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:431db5c7-3332-45fc-85c5-f686221e25f1 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:deb007ce-7b5c-46e1-a525-0f3a256ee008 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:835e1397-e0e3-40bf-a03f-bd05626068c9 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f54af23c-19bd-42f9-a8bb-6b61ae5cb085 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e3375bf5-4168-454c-af11-4274a4e431eb phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:578f51cf-dcf0-4a3d-8170-6e422c60c11c phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b006608f-8713-44fe-83b0-b9ca9f083571 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ce0abc44-877a-4724-8af4-99afc635bae3 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6a92e8e-8628-4b03-9199-5782e173dbc6 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f59cdb9c-5882-4c89-b85a-cd5e939bc0b5 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1c59d62f-6ce6-4dbd-8fab-aa75257e8c02 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8a21f587-0656-45c5-a48c-dea63fc9ce67 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d9932924-ab9a-4b01-8644-8c64d0c2646f phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:32b893d9-ac18-46f0-8c45-6db1375ea870 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:be1d2b40-a958-4944-90d2-b3361a23dd44 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2cb2c955-0dbf-421c-b270-c0f7d526be44 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a3dace1b-3df3-4b81-95ad-1151e3b31014 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:af89a0ca-a373-4ce0-95bb-e1caf39ccdec phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0243a46e-fbd5-4bb0-a411-e5a76c13f23f phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e42741fd-905a-4913-a063-a5f1de53e193 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4f8f97a3-a64c-45bf-8a1f-02aca39a0985 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6b948372-5e57-4b75-9858-37172d2d9125 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2d05d23c-ed48-4c0d-a8e0-4ffa16a0eaf1 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9f2ba1e-1b1a-4934-bc9d-07e5c70a5e5f phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3726e62-f93f-46b4-ac9f-bf9e6af10dad phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:315a2339-11c8-4e29-987e-1a3ad8102719 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:45d8c865-3b07-4b12-8ae2-48cf21b09b0c phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:24ccb270-de48-4fc1-9e6b-2ceb3f4f89c5 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3407c4c8-8594-4db9-bea5-5eb20084d0f7 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3201a6b1-1509-4652-8163-0c4d605781f5 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d5e0f44f-53e6-4f95-9162-a888975fdcb1 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca90b617-44ff-49b8-b4b9-de61c04f7a09 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c107d0a-008f-4d65-91ac-1316e4925179 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1dc98669-31f2-483d-9189-85b26e6d205d phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f8c566fe-e321-4bb2-bc7d-401ae7ccaf85 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4586ae9f-3599-4d9d-bbcc-81668debe7ba phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c3825ed5-70f2-4184-bf52-60c322a87f4f phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:788f6d39-034d-4b7e-9461-3c51dd220511 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31448137-1a7d-4494-b07d-7122e0a375d6 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37947183 uuid:075e6cb1-cf5b-4252-ada9-a69e345510c4 phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:de4b7ece-ffcb-4258-be72-1599080f3e20 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37947183 uuid:c797fb11-7718-444c-a0d1-4afd0df03ffc phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:37947183 uuid:02b55c5b-4651-4336-b715-202b42ecf3d5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37947183 uuid:6629905c-06c1-427d-a7e4-36771e1d47dc phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:0b213732-6d17-4a08-9963-0a34f4595b06 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:fd47423c-bcde-4f07-a01f-6ced72cb7ef3 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:56f92106-a0e4-4962-a6ee-dc856a600fe5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d58920d4-c050-46c5-abb1-25cca6ac7998 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:27774c35-8370-43b2-a09f-ae36c46bb496 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:18c70b09-8f43-4e1c-ab47-0b89c1578c11 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:471f80d1-9fdd-4e29-814c-3c1e951a8f47 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:443124f2-1b43-4ccf-aa9e-8ae9c82aebf7 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:600ad6f5-87fd-49de-915a-c20eaf9b3dec phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:24ac073b-802d-428d-80ce-8553dd63c399 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1781452c-3358-4aa4-bc6f-d6750efd10b5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f7914e24-d05e-44c3-bf42-1ebdce0a5678 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d203443c-b7dd-44b0-bd19-e64495091c75 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:337cc09a-8ab2-41ab-8524-824a993500a6 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1c8980fa-856c-4dce-84e3-40cd0bae0800 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:eb520f33-be81-4858-aead-c52cbddce435 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:48a6e642-ed97-4f89-9d05-df1bb94dd4a0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d14f6ce5-f84c-4714-a982-2a2c7e1c0d27 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1a48756a-3df6-4f2b-bb0c-230b7750e1ca phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:53ae08d5-93ec-4afc-8e44-bac39fc80482 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6ddc55ed-a86f-436d-8316-8bdd79c562f0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b5d16931-f510-4c0d-ad53-fb4d4dcea450 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3f5a107f-719c-4632-8e40-c6d15c22623a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f0a5cea1-51bb-4751-a834-843fe1637f52 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f63913ae-7952-44b8-852d-9b4728a392b7 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:982bbf46-2c2a-45e5-898c-3772f4f61ecd phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:043525e6-17e3-48f8-9e60-fea5b1b34cd2 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b3e917b1-ecc6-4c81-a69b-e1d80275025f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:27cf2a96-9b98-4d7f-a3e0-89e317eaf25a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8bb947d7-51ae-4ff8-9a5f-72c01cab3ac6 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c950d310-cef0-4a3f-82bc-4d69306718e4 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:35ddfecf-dfca-43f5-a124-26a52895e0e5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6767fb76-3334-4141-8662-f800e3774569 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:455af6fc-a8b3-4d28-8b1d-c2d8fd85e01f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:97b2ea13-2f4b-4985-9fac-f726e4b559a0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:026ee9a0-0c4b-4cfb-ac8c-2b7a700b0866 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d486c31a-d86f-46d7-92de-9913040d1b84 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d317d9d7-531f-401a-bded-ec6557e6185d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e9506e12-59ce-4430-90eb-19ee292d2cad phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:68d99db7-8f63-4519-bf11-7019fc28eaa7 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3d7a0d07-8063-4589-b351-d70fce458ab0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3fcad65d-7a4c-4283-927d-177431bf50e9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6facf2a-7357-433c-804e-63721d9ceee4 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0bd7b3f5-3a66-4489-bd8c-4339379a68fc phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f5fe51cc-0916-4068-8146-fea7f6fca314 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5f5cb69e-e95b-494e-9e4a-694d2ecfe82c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:446ef0d5-6df8-4107-a9c7-6dee57ad0424 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b7bb9f96-d1b1-41f3-98a6-8922984eee33 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7826250f-a48d-41f9-821c-9b25ccb12ee5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ad993056-2f4d-4cad-9f86-2359f0771ed0 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e88e563c-fccc-4d16-b8bd-1bd86859060d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3aec26bc-63e3-43a2-98f2-6dff036d1bc4 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f240f724-6c0e-4613-a624-4b798bd88d4c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:445bd6d4-e5c6-45fa-a2bf-698607b1f5a5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7bbe37a4-7b2a-43f0-8212-91cd2bcfa613 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:53cb8eab-e745-49f7-bfa5-ee74de6a3a8d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6dc3829b-45e0-45ee-9b53-690f41a65f14 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bbba1425-a6dd-41d0-8350-aa0177bfb21b phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:56323e51-5fc4-4ea4-8f71-b91844f90b38 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:39eccc09-3f91-4bb7-a4cf-9bb78ba9a784 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4665583a-5568-4489-b1ff-72a937e94556 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7729918f-a5cf-45f6-a297-87e62961c35a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dd4ad275-0779-45c8-8bd7-1ae9efc50c21 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:546dff35-6fcb-4f31-b897-cc8e798652d9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6d1bac3c-d125-4a73-ad97-891a39527c51 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9adb3bd0-d450-433b-9157-5f73cdb2d3d7 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6ab2bb4e-6f24-462e-92c7-36819a2f684b phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:59be99a1-5d94-4da3-9afc-fdb9515747cb phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3b90e592-ffeb-4338-b0c1-1c79447061c2 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:797dae29-0e4d-4b7a-ba56-94f4b494f201 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2b7af75f-5537-44c7-9c16-b988f919da7f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cdc4e49b-e386-44c7-bf20-55da310ee635 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7b4b1fb1-1f2d-453d-92d9-1ae4af6d669c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f72abd3f-b2cc-4304-a2a7-6c0c64f59d98 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:614b5cf9-9531-4dfc-946e-44e2bd785414 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3454c84c-c2fc-4978-a348-b6521bfca586 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:800a213c-3dfe-4db1-99ac-1a2229f6b21f phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c56aad15-3516-4f3b-ba1b-17077043b0f6 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:05d1a84e-3b2f-4def-ae6c-dd477f385522 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3dba2172-687d-4939-b68d-6d75abba9e46 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c8731278-f7de-453e-9f87-b771eef2cc7c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bc22fbc5-67e8-4d96-9210-e82ddc55fe82 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:34ed430f-0b6b-459b-8c91-713cab9d7883 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6d195df2-4258-4cd3-a375-0c90db1dac31 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8855b8ea-76d2-4cd3-9195-a46d6710b218 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb6e30f0-945b-441d-a875-bb2088b158d5 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3720f4e6-e225-4bf7-b2b7-287a9ccdfc47 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:03266eb7-01b5-45e3-8484-1b4e29ab5b06 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cea9e56d-9b11-4c11-9d1b-944910a96061 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4ce2cd2b-aba2-4c5c-b30f-829da9cdb857 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:601ffd1a-21f2-4861-bbf9-75d07a764f2d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4a608678-b721-4349-9741-fceeb06b43b8 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5f693173-e508-43d3-800a-a2b9c329269d phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:301113f8-4f85-4a9b-84d5-b7d4e25efcc8 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5fee3af2-36b5-433e-a56a-b73e904dc4c9 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:68fcf384-9706-4efc-96ba-9e605620da1a phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ab45d1a0-a6e2-407b-849e-54d44a7c2ef8 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01c21f32-de54-4cc8-aa96-76873a99c49c phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cba88e7e-02b7-4fa3-9ced-f8b4480116f2 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37947183 uuid:7591cf31-9d95-4651-9ae1-d25b96a706d1 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:1fec66e1-e8f7-4538-990e-9987b24a32ae phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:81b7d775-1580-43e8-92d2-325f6549faec phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:37947183 uuid:dea25a43-4975-4773-93ef-66e04fc54f21 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c9a2816d-1753-455c-8a1e-5f781b9cb1c8 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6b52a44d-f814-41ac-b97d-72874db56ca9 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6e293030-c098-4a2c-8e0e-8308dcdb303a phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f4a003fd-9e5b-4c70-97b0-3347769a5c3b phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4e94923d-5505-4c77-b5aa-5b70d63c6379 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:edc62376-d5b8-4e70-8195-2632f69dc165 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:b2b55c69-f2d6-4b6c-81cb-87aa8fcd96ab phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:80060c21-bf1c-4115-9416-0a4f83653a09 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:75929fcd-66e5-4c78-ba03-b7104508ac3a phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ce3064e6-730b-418e-884c-9842f962de10 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:aee8dbf9-9c52-45cb-88bf-572585f9135a phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b703520a-0ced-4539-b0b7-db3c3ed25b4f phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:66ca3e24-bd80-4ceb-8368-5c46c0a999ab phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0ad5076a-e0d2-4c89-baca-bba1924942bc phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:26fac1c5-8e9d-4996-9242-0e1ca8eab2f5 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:055a5148-cec0-454c-821f-860123ede03f phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c5fb90ba-e390-4de6-9adb-81a0ad21619b phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:18c4139f-e29e-468e-a167-a8cb7c19b1ed phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4b8f73b9-9a49-413d-9120-1826ed1f5146 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:af1914c9-b171-4ee0-acb2-860842f498f5 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40e8131f-8c77-436d-9e58-a1b410e73abc phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0af0aa81-4c9d-4863-944e-2cadc5aa2298 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:34c03a1e-c23d-4102-9563-982a9fb6cc77 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1d8250fe-853f-4eb4-9c50-0a579e32be46 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9895df8b-9577-47a5-bd3c-4ce1a0a8420a phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:271d27c5-7adf-497b-9665-a7012f8dbda0 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:603cdb48-d44e-4760-b583-8302f5404a48 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:19838db2-920d-4c17-b6e5-4008d3710b04 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1ba429a8-efe1-497e-a9b6-bf51f4a50f56 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:63454ba7-2fa8-4df1-8e25-79bf0ef19cde phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:223abf74-dd13-4219-9b30-ffe594b6da1f phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bb5fd0d0-13ed-4d11-83d2-6bfcb4cbaffb phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f32c0a5d-94eb-4710-9e03-aa42810cabb3 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e821ff49-b201-4270-8fa4-0d881273a4d9 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d5e66e53-7042-409f-a040-607fe9323607 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:133f7bd7-d6ef-4451-b18a-18e7c15864af phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c925aec9-a982-4237-8bf5-fa9ee9fd5fe6 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2791e613-368b-42ef-b5dd-c20dd554a7fa phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d4c3cf7f-31bd-4569-8a47-30721cfd9f40 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cced16d3-8c15-4c93-932d-7e27370dd862 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:34c913dc-4181-4f86-aa82-9257013f5605 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2d62584f-d300-4975-9a03-b7ab72fafd8f phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1950fbaa-677f-4271-9b16-a1d99df509a5 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:300dc194-040d-4da0-842c-937cd00f5f7e phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d502a76d-279e-4fd1-b462-e2849fd2fb3c phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dea923a7-4686-43d3-9330-fccc2663f8f1 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f1f35431-4f41-4dc6-a208-ce35af053442 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:15ff33b0-b339-4126-9ba8-e22a82a5cad8 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5c4b83cd-b26b-4446-85a7-f57015b7ac07 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dbcec18b-bbec-4be6-9d96-5b3aafb64619 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:549b9fdc-18d7-4d19-bcdb-459d83537265 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bfaf94de-9869-49b0-ac8c-e656d50a8745 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:929dd183-0913-4473-a4e5-168a63cfe395 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9f1a4a8a-e9d7-41ec-a5b1-f9d90351eee2 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:da43824b-b6ce-4f5f-b77a-91b4efeb10c9 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9207188a-624e-4ed7-88c9-2b705800e119 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc090a38-3437-4c3c-ae11-c8f2a2272527 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9fe51630-2f64-4985-8440-bafebd419292 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f5cb4e1a-6d19-4249-98a5-d07b9ab94ba5 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9e2557a0-3a02-4912-a286-0f6fbb815c0b phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0ef9b65d-612c-42fc-9852-aea24c3da30a phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:241c137e-03b9-41a8-a9c3-3f466f88db31 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e8803c27-0cc7-46c6-a68f-4b48dc115cd2 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:126fbdeb-b613-4981-9727-e287b3684981 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:df20d5dc-07ed-4c5c-8f5a-1554fec26c5f phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a311e82f-0ae9-4fe5-9469-94e709e8c900 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8e87dfd6-ba5f-4f3c-8ab5-f582748413d4 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d4026fe7-b517-4a98-954e-f6da707945b3 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:075d9190-b3c8-4a41-8549-9408dcb1a1da phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c8651854-17b3-47a0-927a-454b9ed1a081 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:66e58053-57d4-4b11-abd1-e3d6cf303a16 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7f98be12-1673-410a-a60a-f40ae9f5627e phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1d0a38b1-7df1-48d6-8c73-73f6b805ee07 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:828fa1c2-9e4e-4137-a1d2-c66bd8aae164 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8325944d-e4c4-4c70-9a97-558fbcd1ec48 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fffcad7c-dfaf-4089-8dad-5d9cddf926df phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:86e2be99-6509-43ee-aa9e-ce93e080005a phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d1e258a5-496b-4e3c-a839-b038576e6cb0 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c1b81d94-d7ac-4a92-ad8d-54c22ced4a40 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:34a26e0b-da75-4327-abc0-f6c5d90217f0 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e66e180a-6398-4715-88d6-b19fbb443256 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4908039f-b6f6-4148-91f4-c61ccca91127 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6622b38c-697c-4fff-b03c-f036b8c81188 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cff1e229-bf80-45f9-8387-30fd1885ecc2 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e3adf90a-ef90-4540-86b2-fc0758d5914c phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1c6fa750-a9c2-4627-ab80-9e7a57fc0ae9 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7d5297e3-43f0-4cb7-bf45-5d50c13ac051 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6b90f33c-a0b8-4228-a714-dbb6936395c3 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d77e3961-26ed-4449-8f46-f2c92f384530 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e7228721-3b61-45eb-b253-ab2444b9bd87 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8dcc6e50-33a4-4d56-b78d-1a8771f5ce29 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d67e92ad-95e8-41bb-85e6-a80656f8cac7 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:baac33eb-7a17-4165-8e55-3bc4492c56ae phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:352af4b2-a836-44bb-8a75-a11ebcaee7d3 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cbdfb144-ce92-4998-8097-ca328c649c9d phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c3939ba6-9037-4e2a-9c99-9ce3e1855471 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:14ed1b84-e1cd-48aa-9252-307803d3c410 phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:6420a5e5-5d88-48b1-8d45-a98ba07f564c phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:618c02e4-9238-401b-8fc4-8d4605bc0109 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:37947183 uuid:6da94c17-42ec-4425-b08d-b9c515f28d40 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:a598fbf0-fecd-4f9c-89ca-27866574b538 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:89b161c2-67f5-4bc0-a899-9ebe42187dd2 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5a38cee8-7734-4f7a-8883-86e0c8e00451 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e6dba736-7fee-4291-a440-625e9ebb8342 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f13c9122-1cd0-48f3-b922-6af3cb11f2e6 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:809f8938-6316-4309-b7db-fb4969083dda phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:7b9daa75-0481-47df-8ecc-a75195e73c6a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:7613ebb8-48a6-49e1-8903-afe1ab4adaae phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e619d9c9-4926-42d7-b56c-287abf56b696 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:bbd42045-68d6-4e3b-a8d6-76016ffdbf8d phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:2b1f2645-baf8-4b48-bde7-fefbd338f1da phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:706bb1cc-1bb2-472e-9469-438f503c5252 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6b79440f-ba10-47f3-a2d1-a093d89bb690 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:335769b1-cd1e-4375-a8a6-0558db29ef5b phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:db9faaad-b17a-4e9e-836e-238a49343ac8 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:bc6d6499-f049-4395-8985-8ff97ae55918 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4dfaeb52-d180-4133-ae63-3e12878306d1 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:cafe3524-7555-4b38-bc63-aedf51cb79ba phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5c16164a-4a17-43be-8b1e-9cddbdf035af phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c2e699b4-98ff-40eb-a5af-b792c46df23e phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:805127de-43fe-4baa-9487-2db4b150d972 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:3f49cdd3-3e25-45b2-a151-f024cb5b8e19 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d957fd7c-14c8-4fe4-b096-2eaa660dc535 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4d948946-7f60-4103-b327-99c05f6bd74a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bda4e162-1d19-42a3-9e32-4bf14b434e1d phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:69b0da47-8782-4fd9-8a94-3e01dd6335fd phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bda7e5aa-4c84-4830-9d65-fa420c6526b8 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:de4a0459-80ce-4827-83fb-342696ca1548 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:17e86810-5e7f-4bf5-9546-ebb0818edfcf phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e9df4196-759d-4939-91a4-eea75d7f280a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:380c3402-af02-43bd-8933-3e8336b5f735 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5918ed7e-a3f6-4444-9442-143d455ebc88 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e233d73e-28c8-4def-86cb-c63364d3455f phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6e658137-1238-4fcd-ab8e-623bf6115f90 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:96e29881-012d-4c7a-b202-c3169205ccbe phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0479d650-f31c-41b6-9494-3eb5a905ac0d phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:085d1596-d08a-41ec-8f8a-74be38c04e1c phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:06c40a82-9f66-4581-92f1-68c9264db3cf phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:87193972-efc7-4d0c-8f4f-8230f97320dc phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5a8dd8a6-981e-45fd-b94b-5d1c06080622 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c4a097c7-d461-42fe-a72d-1b48724ef1cf phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6412671b-897b-4ed9-a0cd-1077f1867417 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6607936b-d07a-47e0-bc69-c9164b7d51da phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:04542ed9-cab0-41eb-9594-4dc1ba063d79 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3664d96c-8692-4a07-9a5b-b3e33ba6fc33 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a5e53caa-b94a-4fc3-8dea-e5726f3c7804 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e5cf3912-2372-45da-9789-1c17aa7f3b42 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d5ae987b-f6d2-426a-bcc2-70c848f8bc31 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b7b95f90-a5d5-412c-879f-161f508a2c4e phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:247be420-4f37-45c8-a466-bb7943fb57d7 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:742c6ead-f67f-4b58-a871-acf6f1b45768 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4cc08cbb-f706-4e7a-ad5c-12d3dbcd2d6f phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6a2ee833-7519-4d3f-8814-82493cef273a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b75b5d61-9726-4790-8648-577e638e4c86 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3dddf60b-5afe-441d-a1f6-bd03f45bd988 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31e8e87c-bc71-4128-93e2-7191a637d3ae phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b3a20d39-fc82-4e67-a255-0185b7676d43 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1b343943-5e14-4df6-af63-404ed34a9cd9 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:33678acd-55bc-4ffa-87ad-d7759eda6fdf phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4f4baedc-22f3-47ab-833d-40af9a180eb3 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6a3c1370-e020-414c-b114-ad8f11501687 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c02b72b0-5634-46d5-ba9b-6e266e58e7a1 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8f44b939-a2d9-485d-9c81-e1c43e951ef7 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b4c0cc36-d9e3-4e11-a94c-33840eb9c70b phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cffd80ec-bad1-478e-8f29-49e395107e54 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:447fd70b-1dd4-4514-a67a-7907a5dc39b4 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6d89a09d-9198-41ad-910b-b8c52cc4bbf2 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d46371ff-35c1-497b-b994-3ea92dcadf1a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7373bada-0c05-45e5-ba99-78785df585da phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e91d0e14-9024-4b17-92df-b25e6269509e phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f878914d-1a27-48ef-b1ae-27b039657e79 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc92938b-984c-43d9-bca1-3c43f96272e2 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8676f5e7-c03d-4cbd-bdf3-086c93b6ee91 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c542094-04a3-42a8-97e0-cc862c38d36a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2980f1bd-4b4d-4d4b-bc9c-b840e032c24a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5561614b-63f1-4c15-aed4-511e550fba76 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:59fd8480-a716-470b-a69f-3bf37cb128d2 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fe87ecde-fb87-47fd-8458-390c8f0be1d7 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:30267976-a4e4-446f-8df8-c780830000f7 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e54c766d-742e-4dca-b8ba-fbf49aa27ee6 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f755f462-462a-4d11-ba80-614bb71f80ca phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3b14c5da-271a-4813-ba34-77d4069c2ba7 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8e4daec8-4727-4ac5-99c7-2872056f2292 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dfa11cb4-6d43-4e73-897a-1f219a1d83e7 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0d3a4c30-dac2-45c5-a4a0-9b4cd2cbabb2 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a8d79660-e4bb-4d64-ae24-ba8c94d3ff06 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a62fa52f-7d09-4f01-9248-8334286491bd phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:38028423-5e96-431a-9dbe-c0de8ddee313 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fd824598-8a9f-404c-ace9-2a79a8a70c91 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3b176633-e909-4e8a-8abe-e04a1bb33a56 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9fb1c932-7a40-429b-8068-e0f6018a26fb phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0fa38a02-fe46-41f1-9d77-749b9db25f70 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fe7b7265-0201-498d-9678-96cd59359fd6 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:664dc367-40d0-4d8a-84c0-5134dd16be84 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:db0d0584-f1ef-48c8-8783-360356a83ae3 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d973bd74-a0fa-44c5-ad32-0e53a4ccb79a phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:8d3e92fa-61e3-4668-9961-ab14902a4032 phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:709586fe-03ff-494f-9d2c-92ceaf6374d1 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:37947183 uuid:a43736f3-4091-4f73-8cae-52a88a7dc581 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:37947183 uuid:19229e98-c99b-4878-a353-137ddaac0810 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:37947183 uuid:b6643a0a-543e-4d08-9711-b3cfb669921f phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d5ce3860-32ed-4c09-a27a-f3f0641606f7 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f98f5db3-f181-441a-a2ad-e250255875b8 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:738bcc48-62df-4cb3-87fb-92ec782833dc phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5ff9726e-1afb-444b-8343-dc82ac09116f phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:a359e54c-6b14-4eac-baec-10a633ea60c9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:65ab7bdc-4303-4da0-9fe7-6e12d495693b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7c3e4515-14f4-4dc2-980d-fe435608634d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dd7e03c3-8439-4656-8247-aa7bd43a8487 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3511ab28-bdde-4585-a078-02bd6ea93980 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2d9a721-f3c7-4452-afd2-56cd5bc5810e phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:67781d2e-de9f-40f7-8b29-999a67ea7951 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2fa03b1f-5bdf-4ce2-8e96-36438927749d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b30e1e83-77f3-4630-9b1a-f80542abce25 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2eb1f034-7329-4b75-84b9-222e55d723db phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:15713ce9-24e1-49a3-9eec-f28ceb389030 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a763c548-ba05-4bf2-b4ce-defd4c6c3151 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fe1c400a-b25e-414a-81ec-62f441f02897 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b5da1167-5b2d-4a1d-874d-0f2d759fff30 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fe78e733-aaed-4640-918b-7c2d2bcba093 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8d0541e4-ea8a-483d-8468-337b01baa366 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:23c362c2-3fab-4b30-90a7-8e73cb3ad8b6 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8caa5f70-bee9-407e-a31d-1b95c97da6a0 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:592ebf18-0d9e-4201-b728-d210792361a9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:388dfe9e-4e1e-435b-b690-d1381bed02c5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f16516e6-e864-4ca2-b0c6-ce2f6bb07de0 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:21112c66-4d42-4ee2-8e73-418434713a90 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bf4864d1-c24c-4e0a-be50-d81588187962 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c64c3bc6-1c65-48e0-ab6d-c35fbfaa2f8b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3d3e49d7-6303-48a1-a9ec-8e13263894e9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ccec2375-6f94-4e36-a4fb-fbab58660d22 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:731f49d1-3714-48ef-bade-bd86f8bff3d8 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ebb6026d-2e0f-41d3-ac1d-02741388475c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4f793f64-63f2-409b-929a-d60d4aa6154d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3244580b-c51e-402b-ba56-b5fabff6a689 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a287edc0-0943-4713-b3e9-67a8f097eff9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1f6f4fa2-9760-40dc-9568-ee952fd5100b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01ef766a-8bae-4234-96d4-ab293c1ec04c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:81c19169-8dc3-4088-8e1c-a4ee8d1142e8 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:28ad7f29-8460-4d2b-915c-802dae550c8a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:02b01228-9a56-479b-9cb7-959e473cae46 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7cc5741a-6f04-42b6-b9aa-53c1f9ead0cf phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1787e36a-a6d5-4ac6-9779-1a399aee14c4 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ee6469d3-c543-460e-921a-b00795601085 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8fc63da8-8175-4007-b545-2516ab135d26 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3d3c9bd2-f418-4534-a453-ca277031003a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d7fc98bb-fc8b-480b-af84-e3718fbe3f24 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:06e40824-b80d-44a9-a055-45a3aa6f8f4d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:30ee0dde-c1c8-4e52-8717-d35b0e97ee4a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b5ba0282-828c-48a7-a46b-294aa682125f phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:32539532-7d42-45d8-8959-7e32cf23bc52 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:46ba379e-8e40-4eb9-9942-e544b6088315 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0bceb80c-664b-4928-bc1a-67988639bc4b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5cc8d4ec-35f9-4b87-9280-15524f5b110d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bc8af20b-b471-47d1-a104-b0d8186ffc7d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bfbbb145-bcc0-4aa3-a949-28a17b2d4509 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f03bc1ab-fe6b-4aca-85a2-4fae18f96fdf phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4efb78ab-8bb3-4f90-a9cf-bc15e1020415 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a1f5c72e-53cb-4306-90c9-7ec7d3f4eeaf phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0aecb32d-ace9-4d28-9131-61b94eafca51 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e31d290c-4c3c-49b7-a445-abcd8fc85570 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7951289b-e000-43db-8d53-c2b2f7117ff4 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d6b7ec6d-48d3-4bf7-982b-7343977c4d44 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f39e5c6c-5933-4a27-ad11-05ebbfc270df phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f9094bbf-3af3-4e6c-aa36-83d7e9d24c1b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c5713420-cc69-4f11-8c71-cb108d6218f8 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1661b537-6ae4-475f-9491-aa922f233a64 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d72f7dc9-3b40-4ff1-a706-88d95f62cbb5 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c858701f-a1ea-4595-8c6e-a6a02b714ea0 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:22768513-0285-4c0f-beca-843136aa51dd phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:62ef280a-b8d1-455a-84cd-d3860904ec1a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3ee4e98e-7a11-4f82-9f49-b3d3e334807a phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c3fbc8e4-0e0b-419c-95de-049918f3b63d phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bb357e9b-207d-4019-8319-cd1027d62324 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a5f7ab5f-a456-48a7-8c48-af04e7153dc9 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:63d59fca-9f3c-4b67-a8c7-32183da91bdb phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ceae9817-cbb5-46a0-9fa6-e27654242e93 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7f865fa8-937d-47b6-bef9-ecbb587ff905 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6d3b1b2f-54a2-47b2-bdde-644bbf2642cc phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:397006bb-37db-4ed3-89f7-cbda69c92b31 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:595e06cd-bb05-45b4-afb9-3086bd1c109c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c7ee5140-3fa2-4b7c-af18-0a6ff01233d7 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:afa3018e-014b-4fcb-b4fc-e697093ba57c phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e6c36966-22f0-47fe-85a5-71a80234d0a2 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d47f29f7-7a3e-46a1-a03d-0f8ee11b31bc phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7fec2e5f-86f8-4459-9574-e1ab9ee456a1 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c02dd99a-0f9a-4853-b51d-f8f0ab55b6ac phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5352d36f-ee43-4e79-bb61-268f84f46888 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:58b6e856-f123-4291-9608-b702d5bac0a6 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c989c32c-e1c7-4948-b7f4-f94801517836 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1ab1575e-f896-449d-93c6-08e8747628d4 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:834b19e1-dfad-4873-bb63-eeab263b5449 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5cbb3d9f-d434-4d4f-b832-0ec9cd326791 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3a1f266d-f09f-46f5-acd9-ec829cf053ea phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:55430576-0902-48d7-a3d7-c65ff946352b phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9b01a4d1-69f3-4e96-8357-a5d9f0b8e092 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:37947183 uuid:ed86c376-8855-48bb-b523-e867d9868478 phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:da242e0c-853a-4e5e-a7ce-f2e8e087d5fb phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37947183 uuid:fed22816-31f2-4f19-87bd-66cf7cd3d0b8 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:18a04a8b-cc70-4d55-b6c7-37107452af0e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f87f1196-6908-45c4-84de-843e2a85975a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8c98830e-0ea7-4e83-af97-a2046626dd28 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:89f531f1-9e89-4ef4-b3b4-770fa2b7d88c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:70bfc5ce-1af5-4406-8f6c-06a649e8cfc1 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:22cb338c-d76d-4132-95d3-0204480c68c9 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:88ec0612-21bc-48f4-9bdb-7572ea5bf58a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e11052ad-1290-4dd8-9d05-26bac46d8b77 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:54851b99-f72c-4065-919a-8c3f0eeb9e8c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9a46965a-e420-4f00-9de8-08ee86d3ea23 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:228dd7eb-5ee5-4410-b3ef-c2736a16cdd8 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4dda006c-ccfc-43eb-9107-dd6487093b87 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e9f0d257-cb2b-42e3-93d9-5de8899ea465 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:07cc8182-a489-491c-a3e1-c57dff1aef82 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c8ab5db5-6598-4975-8ea8-474734fee47b phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1677cc11-8260-4ce5-85c8-e6f6d16b13bd phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bc2c5440-7ecb-4769-a103-9b79deb866cc phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:56abb6f6-e21d-4781-a1f8-0316f82936aa phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:707202aa-8142-41ca-8f4a-58f9e2860bd9 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31ed069e-bd96-4227-b76b-bb5647bb57df phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:560db9e6-7185-4177-bfb0-a4c97c41b69c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2edd0a2b-1e31-4aa8-a7f8-136e5ba92682 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7ea91b14-b54b-46a7-af13-01d3b58676a5 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:26196960-c9c5-4c94-9001-dd58936991b6 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:652e1b28-7de0-47f5-b0d5-afb5d4d5b685 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7419fd07-6730-4ed2-b8e0-630aa7f05b82 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c7d47c2-6ba6-4715-8ac4-57df3fda605f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c1870fa8-86b3-4761-ba1f-05a33b146e09 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1c56672c-4077-485a-ae0f-460447668560 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40c2e3e5-aa76-4e4a-a5e2-fa5bb8331a11 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:49d387c3-349b-431d-96b0-34f3fc8fc542 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4958288f-34c9-432b-8069-ca79daecdd75 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e6481703-8681-4cc0-9656-771279309b7c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f89dd7ce-b4d1-4f5b-9289-09ba3946a220 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a76a22dd-223a-4a80-91ae-51a20462c925 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4304a7ad-aecd-44d8-93bf-3e57d929de69 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b7b0822c-ceca-49b6-8c49-ba868c647083 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc3d4864-221c-4a45-a702-e6dfca06c59a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:448f8868-fbce-4156-886d-86bab6276e1a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0324e32b-6a71-46b9-b483-2aace831c47d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:124985b7-854c-49c2-9e0c-16515c4cb3e3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f00d7761-0063-4264-9489-cead4c6e4581 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:786a3ae9-463f-4d1b-a7df-d4a6667f1677 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:052da579-13d1-4df3-87a8-0452b116bebc phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7dc2f960-f49a-4715-9b26-148119bfa6c5 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:977fb08f-3a76-41fe-b340-036b774a603c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cbb79d9b-cf94-47c6-8b92-5adaac74a45c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c284bd56-5e25-4788-8f5c-acb3a667f944 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8fe66c1b-121c-4d4f-a2ad-2b37afacd6ac phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:258190cb-594f-4a17-80af-97368ee07398 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:197d2dd0-af81-4a34-a75c-57c6b37f6d44 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:221dbb54-e2ae-451f-a1ca-f983e671fe15 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1db15a96-4a23-4fba-a983-3583908c7b9e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4c0ca882-f740-4b12-b5d2-7d707a3dcdfe phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4d5b81c7-f725-4a0e-aeb8-7112a38af0a9 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:845ae136-086f-407e-b83e-891d36d1c30a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2f9134ac-45e9-4dda-84a7-e3d4e54a5e39 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e0c3995b-f0f2-4d06-b3d4-eb8acb5c9253 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:14e5e993-547f-4024-99b7-67261c45659d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5f788e0d-0b2d-4f21-94e9-4985a6ae7eae phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3d29b063-5172-4607-9bac-72b46937016e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40c0c5e8-a9d3-4a94-b98e-f9332ddd41fe phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:10f67e50-edef-46f3-af06-432b131a0bd7 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3ac97c7-4d4c-4e86-8205-ee4680a48dcd phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:28f68f1c-60a6-45ac-8459-6c005755242d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:30638bf9-3b97-4b24-be60-91cdc9e3a496 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5d0f7343-27d5-4ff2-a1c7-f560acb63add phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:45ead4da-2cdb-4890-aa6b-357aa092264d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bd00a2b9-0552-4a67-a4a7-bdbaa2c0f181 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b2985ce2-e514-4c54-9243-8c10de575d52 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1ade608c-75f7-4ed5-b1c7-9e141b1663bf phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:81e20baf-9d67-42de-aca9-b72561cc468f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c4251137-b3d0-4699-8364-700cb72d55c3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bc46262d-c9cd-4257-aede-f639a843909e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6ab79099-405f-4ccf-bebe-03d89efacdf0 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6fef126c-a10a-4d07-931e-e8283669562d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8d29946e-5e59-4647-8f8e-a1b5388c6753 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0696f41c-3be6-4f30-890e-d632d2133cdd phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9753e872-a2e5-453b-acf2-51defe1656fa phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cfd7b75b-a24f-4426-b922-cc11b6ae437b phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:98868586-5aab-436d-91da-a4188c87ee64 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:63b44b09-a92f-4b67-a799-db2bfafc57f0 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9af4f20-ca7b-4bc4-a23f-811778fde844 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b446b6d8-745a-4e23-9920-d7963ecaefdb phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4e7fe293-b2be-427b-9b40-87798f21cb9a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2cfe3af5-75d1-47dc-ac7c-c6b081aa433c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1d7dcb55-d585-46be-a10c-05fbe1c33d53 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:01fe90a2-a28c-47d3-a4ec-fa5cafc7f72f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9a3892b6-0894-4a2d-b171-d1a94ba12663 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:77ba8bcb-fe2b-4aad-bd53-991e78b4e23c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:791ab9cb-9954-4f14-90b3-383fd3866765 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9978943c-1d33-435c-a03f-2c72f2da6253 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2332499-7eda-48b4-b02a-b177ff59aa16 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:abf2bad2-4dec-4f7b-b7a2-a89401ec3664 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a4d5bbd8-eeb0-4c60-a3a2-e8588ca7a8c4 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:729de493-49be-452b-bca6-3c7cbd3d42e7 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8d49c7cb-be6f-4c85-b3ef-5fffeb961081 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bba04b0c-e5ba-4f6b-905d-e498fba62047 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37947183 uuid:33b1f04b-ac77-42dc-a3b4-53997ca3b934 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:d4151802-1b09-4b1f-80be-4c9e263c8966 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:8d673422-8695-4901-bfe6-cd0af8d1985c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:9a172620-a7a7-4fc2-b487-416c5631eeac phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:3d258108-ba55-480a-bfbb-4d1920c494a8 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:3fced8bf-279f-404c-b42f-868f26b8da2d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:0541dfad-436d-4878-a9ab-d9d635426efe phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d7d2c5b9-2f26-4050-ba73-21a79b32c6a8 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:35ee2678-4309-4ae8-b04d-d53274f26c6b phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9f12c7b2-98da-4592-88bf-dedb5a234cbe phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:76fc5129-861e-4282-966c-55bd3c35e491 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:281fc707-56d3-4cd2-bd45-cee0ac9176c6 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e6951db9-5120-4a5c-8f2c-472052e969d1 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4718317c-f842-44b6-befa-867b6a6bd46a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b54d5053-d811-4ca1-a682-e3cbc6879286 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b9fc074b-3124-4cf2-8c25-c5fe8f3c1a97 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fbc20840-50c0-4122-8bad-f096d3d03697 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ed4467d5-edc9-482b-8237-0cb2189aea3b phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1876babc-1029-4a34-9e08-0ca2f12fe6a5 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9656cb7-b4da-46bc-bf5f-a0999b7afd1e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8fd96579-d822-4a4b-b2af-1324c1a6f092 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c080c81b-419f-4ae6-8db6-6b130ede672d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:183bb6f8-2b38-4a3d-b7c8-15ddfde43f72 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba35bbd4-56ee-490a-a343-f15fc95189de phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:318543b4-9c45-4c7b-9c74-4b899b055cc3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c28e73bc-60ec-4149-b80d-5435685f0835 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7362836b-33de-4548-bae8-3454ff558fb2 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:81fbcd99-a8ae-4b74-837b-2720a7440da1 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2cadb356-7d18-40cc-873a-7c64d8c34dae phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:093906eb-5af7-46d0-865f-a1ad0da68dfb phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f6d18c1d-9fad-46de-9bc2-df1b5f6e07cd phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4b8e4d26-3ae8-46bc-8ada-8a8957a278ba phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4b9f782a-949a-44a8-bee6-20965653d6f5 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f52fc462-258e-48d4-baf1-1490ea77d176 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c05a386b-c8cb-43a2-9adb-17b14f708cd3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:11403c19-af67-49e8-9fcb-d31b8199340f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bf5818b2-d70d-4db9-a14a-c2c97fb01df4 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:64a0f444-8b80-442c-85bd-1218b651e2e3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5f67858c-b476-48fe-a395-bdcd04d0b021 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d0011020-ade5-46d5-a68a-63564b06049c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:acaf7d6b-ae64-4e3d-acab-5e2ed97550b3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7e535e2e-554c-4372-9a4d-528557a63324 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e9b3ef5e-dda9-4e7d-9778-83bacbb38832 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0f1b8647-f290-45c1-8430-d7e2e2ec425b phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a48272ee-5caf-4ba8-be75-1c70cb5e7f44 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:af9aab13-47b5-4fce-992d-d33b13468f9e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:99b5b0a4-b2bb-4b46-ae71-4e340eeed4fa phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a17e4f1a-e577-428a-be40-da9c4f47a73c phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9d831d41-57e3-48a5-aef7-1bcf4556ab03 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:704598db-4c67-4dbb-9eaa-2ef3a3effdee phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bd157b4a-011e-494c-80d3-1db811df2275 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:33725318-5f4f-4af2-b4a3-0f23da2b7824 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4762f97a-7593-4f9d-b98e-bdb433ea2318 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:605bbccb-c345-47ea-9799-01a9be26f3de phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c9bcca8f-6a22-4bba-ad90-c1c62f98b08f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:12049f96-652c-4ae1-a20b-b6436cb82ba1 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:35844c40-3cae-4bd2-80dd-ee7eb798cb53 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:17ada8d6-9bac-4969-8448-3fab3ebc5766 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:eb01d428-d4a7-4385-8680-8ad4271b5e75 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:61f3d76d-b630-440c-a737-721ec93585a8 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c241c29f-b02c-4c6a-bf8f-c73c5f87c04f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:20972d30-8f19-4249-83f7-136fb90859d9 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a3d6ccdb-cc40-4a03-a3ad-210f0fcc68e6 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7cb33549-7611-4f39-8cba-1d2924ea4415 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:faff49d3-a9df-4555-ae19-5b58a9fe68f6 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8a8ac6ff-4c73-40a8-b433-7a717f2faea9 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ccdad2cc-a9df-497c-a89e-9dcf57ff9486 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b44c9608-1324-49d8-9f3b-d5d6fe3ec80d phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2251cea7-61e9-491a-8c65-fb66b8cc9642 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:94612e12-509e-4df3-94bc-2c1aef8a0a5e phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:35036bc4-c8ec-4b7a-924c-a7081cf48108 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d11298b2-f321-4e4e-ae4a-104b0b30f32f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca08e5c6-51d5-402b-a4cc-5b9449f7f176 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c2cc8d59-5f89-4f30-9127-6ac57a3129f9 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2f193152-26c2-45be-837f-e94c67b368fb phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:34df9b82-af53-4bc6-937b-062b78780c57 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6f4c634f-0716-4975-a4dc-1ff70a9c0045 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:55722512-04a6-402f-a919-eb7ee17b72b8 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3e5d5b98-03d9-415b-8921-013d10758dd3 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3d6d6585-ba84-4970-8d61-5a4c8e20008f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fcdeffe4-33e6-407f-971c-e191d73a6ab0 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:282c7fef-de15-4083-928a-ae72a8a4bfc1 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dcdb9b3a-7d8b-4ba2-8760-9b1571d8e11f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f74a2a7c-1e65-4f22-93ef-aa32feb21d00 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2600ca9b-2726-4a3a-8c38-0b584fc7cc0b phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a854db08-90d4-423f-a2a4-858a6486c0cf phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3a0b76f-6057-426e-8438-0bafd0b40bec phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:56cd9faf-b9d3-45e6-a642-8343cef799af phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a1c09aae-dbc4-4afa-b499-165675bc1147 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:59dafa8e-e59e-4220-a873-8807ffa3cbef phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7e7a5abf-d33c-4b53-892f-9ef74fa742db phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:32586762-5a55-4adb-a265-25202abf89f7 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d1efd2ac-17ca-49e4-9b53-7ae942e61a3f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b337a721-0457-4a4e-b15f-b623a6db1b1a phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:57f81bf8-945e-471e-af3e-476511b805fe phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:df432ed6-7418-4255-94f8-6dc504554c09 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:552c786d-c73d-4923-819c-bd19494b0567 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ef9c41ae-691e-4ec4-b859-b4ac0e3f0b0f phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d30b0f28-5fdc-44de-a36a-60569523f822 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2a1b4b8-c440-414a-bc47-8b60a2dc5ef5 phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37947183 uuid:227dc3b9-721b-493f-bf8b-f2cd76caefab phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:ddf7853b-0da8-4b9c-b466-54d1bec62d54 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:aec3fff2-063a-499c-89d2-23f3a3ec3e8f phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:9271c87b-f12e-4e84-8a43-1be4180dcc61 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:091c49dd-43d5-4648-bb85-baaa367823b4 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:d83bd6df-1ffd-43c1-a5c1-7aea3ccbf527 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8f4c4a0c-6e39-48cb-b040-77de4384e1fe phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:dad5b298-4ec2-4614-a91d-9c9c18219676 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:f6c6ce0c-f56f-4499-9745-321d374a644e phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:036b4a9d-d7e8-4a89-8048-5b60a0537be8 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:61fdd6b6-9c1e-4908-bdf3-aa9ac5c8827e phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d605ee85-ae10-49be-a0ed-8ac141db4a05 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c4cb8971-6ed4-44df-a504-9ec8cdc356f7 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:010da585-1a5e-49d4-b7c7-5fa6648ea758 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:700a87f7-58cf-4a84-8f79-e214ae55116a phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6caa3c66-2fb5-4d29-b74b-48f263335b88 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6bc0a5bb-e7f5-4a44-bdc1-3a8c9e21f112 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:894b3703-6c12-42b3-b63c-e7e9218e9804 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:60c2991f-2e88-4f18-af30-b0bcb5aad115 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:33f2dd77-8139-40b9-8c1d-1a198e74a211 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:29cb4a92-4f97-4244-a84f-c736bde27ea1 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4c056fe0-aaf7-488d-9e4a-b98e64120ebd phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:26e6b1c3-bf6a-4928-b2da-e99934affe12 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8a075852-04b5-470d-895c-889ef6f1f4f5 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1eec06ed-3f1b-43c1-b7bb-c49bc0d35b0f phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b658cbad-6e9f-43d1-8d09-a6b69ac061b7 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fbb79c0d-d5e8-4c34-b17c-dcf72d7967a0 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f32df5b6-f17a-4acb-a070-6a4eee413d9c phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bd0cb417-9e1f-470f-a177-df62f9d0ac3d phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6aa21c31-7fa7-498c-b1c9-d08df7b4b065 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4ea27814-2915-466e-9f42-edfd25ad29b6 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b04f0faf-1af2-4b54-ae6d-5ab87b8f59dd phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c5759316-0f5c-4abe-a8cf-385c1126b17f phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:26695f17-af93-42c6-866f-81b1004b7a42 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2ed9ac7d-9364-4645-9afb-60d30fb79709 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba025cbb-91ca-445b-83a9-d45cd229ce70 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:86141724-e620-4c09-b7bf-cc398e401ac8 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cc291170-58f4-4fa0-b5b9-ddf33c4cedd9 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f756289a-bc66-4103-a05f-f97ab518e8b2 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c018ee90-dc90-4b9a-8d7a-59014b4a9cc7 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9804845b-18af-4afd-b1c5-5262962ca1b1 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f5880613-f10d-4af0-951c-df52959c23e9 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fa22932c-cdb3-4c9e-a29b-2000884246eb phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7a54a3c1-69c5-4275-a8a2-f3258262b6ab phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8ace7bb7-fbee-49d9-8cb6-c531652600ac phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:459aae1a-059c-42a1-8be8-20f737c59d65 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:42e9053c-36a2-4476-9dc5-3fa59190ca19 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9ed9162a-0464-489a-bef2-5cb2a734b5ac phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d69e2a3a-45c0-4f82-b611-a5eb06cf4469 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5d128da4-8e15-4ed9-8777-74521b15befc phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:563b02e0-f537-4d7d-8889-4c65d1cf5943 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:47d6e813-556d-4bdb-acda-1f0624874549 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:648adfbe-26de-4d04-85c0-7e24d1013701 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3dbb21d6-0aaa-4e78-ad46-e12533b0586e phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dbe15146-3d59-44b5-bdca-3eafc4fde4fc phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:39400c64-53b3-4199-85dd-c1af15f187b2 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3a117c3f-c258-4b3b-9819-ca7064b82a2d phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d7c818f2-fdfe-4c09-91ad-1961ef138c98 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:992e5655-cce5-48e5-b469-8e281409199a phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d3156abc-744b-4003-b9e8-ae479504d4a9 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c43d9860-008a-4dd5-b918-8ad011249807 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3680c902-1db5-470c-925c-e9f0c63cc09e phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1a20ecf0-7421-4e04-8060-d9f90a4ca116 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5f43132d-5228-4169-abae-05ff67db8c3e phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5ac9fa9c-8665-4bb1-8e94-17d7d93f4ef1 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e4178120-25c8-4a89-ba0e-e5963441cd82 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9bc8dcc2-8710-4097-a449-0ab0e1900c84 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d8525ba6-14a1-43b9-b033-ebf1dabe9e58 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cd72b819-0239-4935-8792-975dd98e90aa phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba676f59-3550-4906-9359-6fb03d771ef3 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:17e31b3a-c06d-4218-9368-deb71eb8bdbd phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bab91cb2-ecb0-41f5-97ef-9a3966b1ac16 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:42abdac9-a008-457c-94aa-8ab7afe0caae phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d9ad9ab4-4b5e-4c8e-9408-e6eade38b770 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d0e0bea8-6102-4c78-b2aa-7e9d53a828a3 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:14db01aa-02d8-429f-957d-9538f02ff4d9 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e21fed08-1b18-4de3-96f3-e8954c558288 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1206d234-9f7a-4d04-af2c-94e26a308074 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0e86a100-a3d9-4bec-b410-5605e3854a46 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9d0f6c6e-b6ce-4fd2-861b-a0be48843e29 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d61a41eb-8063-4445-a6a5-cb76e06bd7e5 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1c14f62f-76a9-4a54-9cbc-8d5c01857af4 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:64292009-9033-422e-86ee-1180719ca33b phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:32a8033c-a11d-4deb-a2e3-cae42e715d49 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:164f6c09-5e98-4d09-ac1a-3bb4130a6729 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:12057057-0e16-4e75-a915-4a001f158fba phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b6445f90-55c1-4a0d-a686-864804057b70 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4a729860-a3c4-49c4-bba1-ee236e0614ed phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f7004d25-fd63-40fd-bf33-0663df074c8a phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ff8d3b48-c484-4189-8445-d7feed9c2459 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7b326d1a-99ae-4189-a7a9-5a00be827b85 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:703f57ae-ef42-4d3a-929b-b963a5357ef4 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dd7df162-1b64-4336-958a-75d8e09c9ff1 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca2b9122-4f7a-4987-8a23-ae7b09287cf6 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:581756c5-8b82-4763-9498-8321f8d39af1 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:038338df-4802-4955-83b6-f881c1770ed1 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:056e79e0-87c8-48e8-b605-53506107068b phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:335dbc70-8061-4291-b03c-56efddecf9af phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:40ea0526-06e6-45f5-ac31-9a2676e27a6c phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d1e64252-55ff-4f7d-8ca6-88dab038f8b0 phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37947183 uuid:3ef58136-391b-45d3-8c71-356abcb7236a phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:9f208739-85a8-4b89-ae0b-599b7f42403d phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e35af29e-e3b1-48d4-a4c4-4c10241b148e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:1f9b47a7-f2f9-4491-8e3e-b1ed0c55a6b0 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:a07da1f8-4ad2-4978-985c-2f83adb889b3 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:7f01dbbc-81b7-49ff-ba63-51761518f908 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37947183 uuid:88516169-4e34-4021-827a-f248f50cd65e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:cdc673c7-e37d-45ff-a35c-c9eb9eb16fa1 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:a1b87c2f-7931-491d-8262-3e1de3a84928 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:974b85ab-71a0-41e2-85b4-ce03e4926075 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:33fd5b5b-15f5-4854-a2bf-796e886a8114 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1daf412d-2229-476f-b87e-f05241c0b821 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d1d82f5f-7e19-474f-9d52-65aed90b9549 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1228de46-9181-475e-8cff-1f646c930f5d phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1d3d1878-1f3e-4bc3-843c-61228cb9350f phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8282a986-320f-4014-8504-7d0a315f55ed phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5f751a59-657f-4888-945b-3f030a9c403f phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:303bc5d0-6d17-4d53-b297-83f42e8713f4 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:125ac072-78ad-4e04-b7ef-7739256063b0 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:b5847b10-236c-45de-be93-e2295b361d33 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1a52fd8c-865a-4994-9d3b-e7b0b91e3242 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:fb6540f1-c82e-4dad-bd36-6ed4c9fb1356 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:8bc32acc-accb-410a-870d-43ce10c48e2f phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:97a519c9-9e88-4426-a530-425820889f4d phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5f90d460-c77d-4e3c-a26b-95394e4bafab phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:63d7eff9-28aa-4ef8-9638-a70bb59a418d phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e3b1c9b7-eb0f-41cf-93d0-4e14affef683 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:98c23953-2de7-4b46-86d5-f7370b80456a phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ca1c6d1e-ffb7-4b36-a99e-1a49e14c4b3a phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:44e7e699-4ac5-4a69-865c-cdd7f5180eca phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d3f8820f-11c6-4715-be5a-5cc2a8d66619 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7863a345-4a68-4591-9dcc-94db38d84fc7 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cefce966-8d8f-485f-94d6-e1e452ea16a4 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:74f0e9c8-4cf9-45c3-b2cc-32deaee82c56 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:12f98366-c219-4144-b915-eacf428ce8c3 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a433f9c3-d9c3-4169-97d6-1568e98fd0b7 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ea388f7b-2bcc-4345-9601-1c91c1b14e70 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:921bad2b-0c83-436c-a1cc-3bbd6778f955 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9d345615-3fda-495f-b25d-1bc389dfa1fe phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:364b1cb9-39ef-40ec-a9bc-153adecef38c phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4d61b04d-a4af-4f87-af89-464e2c910284 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8b59f8bb-1671-43bc-bb3b-04e0591dd50e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:be2a8e25-7cc3-4929-a14f-c8bf38fb023b phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7187dd1e-c90e-4866-aac1-51b44c57fda7 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4e4c1a4b-2416-4b49-b101-569b464b7fde phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b50fa063-fe42-4bf3-85e3-256da7f1884d phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c832436d-7cc5-45f1-b246-037d12f817ed phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1f6c17c6-a8d5-4517-8dac-99d1199caa6c phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31cdae5d-3345-49f0-9089-bf514670aae0 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ebbffac6-b53c-452f-8833-1ab2783fb3f1 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dea66e30-bb26-42e4-9e0d-99876ad9a22c phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ffcc5014-3ed0-4953-ab48-a43bf1a02771 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6b7c6dd6-f73d-47b5-8247-60c7e9dca67a phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:360c5c12-5bba-45d5-8ead-7c21c4744fbc phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7e7d1684-5d6f-45b1-8052-137606314adc phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bba64063-9b91-4e1a-a1a0-ec04f7afc397 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4b59391a-a095-4612-a56f-8e630bc73611 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8e415490-7451-4395-b912-333425649247 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:253a01f8-351e-49e1-bc98-044fb352f127 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9e111090-12ae-463f-a9d0-bbfa4f962840 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3996e1bf-8388-4b99-966c-7141493b70b7 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:50952b75-f709-40f1-a63d-413b694c0685 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:36ab48d8-08e3-4f33-802b-340e089e51c8 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a54b1a3d-df55-410b-884f-d96929d6ba3e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ac8e4f27-a247-4982-8a40-6486749ad549 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0392973f-dc58-4dbb-a5b5-00e5700b8c5e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:63c5f0c5-a066-4552-b6bc-9100ecd990f0 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:840b132d-0612-48a9-8675-6a1c7f9e2198 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f7bb6d48-7f7c-4ffb-ad0a-8c86d2161568 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bb8f8fc1-e23b-4d9f-ab71-fc0ad74463be phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9948254b-d901-47a1-b5f7-f554ae586a6e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:823b58a5-90eb-42de-bb1d-5077ef9d6d0d phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:978e6ccd-e922-451c-a718-548e266da581 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:601a3ef4-19df-41af-a48c-076a382dadb2 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f83eb34b-8ebe-4a66-8b1e-07667ab94efc phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1f34650c-cc7d-4b16-997e-c7ab1eb77be3 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4632ce61-880e-45ad-aa04-0d15d90ffa68 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cf7a76b3-c8e1-480a-b5a5-b95902e51757 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:31af6a1e-ee61-4d17-b8c2-7700e5869c13 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b0f4af00-7d75-44e0-8c9a-80003fca517c phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dd49c00a-edc9-4413-abea-c1d19241c68a phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b8dd00cd-734c-4139-85ff-11c10781143a phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:386ed792-1b55-4f47-8090-f3ade3edfe53 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3fc6cea3-b565-465d-9b6b-ef31f1d60bb3 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:56414855-59ad-4754-baff-12b43c966d01 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:633ea893-b03c-409e-98bf-68dae86c999b phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:190bf10d-e50c-4a00-8bb7-c31beb98f96a phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:236765e0-e9f8-447b-b3e1-a2fc240772c6 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:84bde4b3-24f4-41c1-9ce9-c8510727fa8e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bc0422be-eacf-44dc-9614-f648d6b4b5ec phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3f5baa06-5980-47b0-a972-085a8717081e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2263863d-f073-4a45-8461-8e3e66c0aaa3 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:257af470-7304-449d-ac71-ff39a6abd153 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:38cee7f0-7e7a-4b6a-a978-15cd43bbf434 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bb7a307f-f4d3-4976-9abe-0573b802e87e phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2183b567-b366-4c54-89e8-3124bfc2c57b phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:35fcf1ce-5610-4432-9140-1da2c3736f4b phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5e11a924-faa3-490e-badf-bef73d3a67bb phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b5ae372a-8b19-4a5a-b369-5a7efb33f69b phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:235a436f-4303-4a70-9e7a-acf4dece79e8 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9d75223a-ef67-45e2-8a73-b39d8ddebc24 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:90d6039c-a1d2-495c-ac83-b810d45a8dd5 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cad33cd0-6602-4786-8005-f780752954b4 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37947183 uuid:e783b197-1ecc-462e-a644-7fc9d2ab27e5 phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:939febfe-6f22-4e62-a6b0-832dac4222e6 phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:has_phenotype HP:0011577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12632326 uuid:ba099d54-19ba-4873-9c6a-cc5660e73906 phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12632326 uuid:c86b1a2d-0137-4228-9818-d55e99d39389 phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12632326 uuid:88a04aef-a0b5-493f-9c83-2bbd5458d173 phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12632326 uuid:bd7dafb3-8522-4e71-bc53-0338115d9e48 phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:has_disease OMIM:606217 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12632326 uuid:c933dacb-bfd8-46b1-b637-760f32adb4bc phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12632326 uuid:d1235497-55b6-49b0-8e45-878ea9d989a5 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:034dd6f9-09a4-43f9-a73a-0c65359c9fcf phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:243a2f41-24dc-4c92-9ace-62aa05ea3fd8 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:bd51da3d-e856-4bc8-b409-f94a5be098bf phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ec5db90c-87d5-4b33-95e3-ce7fc99795e0 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5000ac50-bf8e-4b18-8819-0e6e4b9f0337 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:4bb21811-ed53-4385-a9d3-bdfdd873b05a phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1711001a-e843-4b20-a20c-ff2de308f55c phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e6a89922-b47c-47ec-9ff6-ed7aaf373f08 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:56b0dfbe-4e31-4e5b-b5a2-b19eea71526c phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:e5c8e0e2-04cf-48b3-8e0f-6e2fc899dc3b phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9783a59a-413f-4cf9-b92b-2907b2736be0 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:787e3494-3634-4f11-ae5f-9c396df83e73 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1b045c6a-7a1e-4db5-9aad-7709a09ed2bc phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5f9796da-0a56-4b55-baa9-3e7b4f56a427 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ac737449-f378-4fb2-ba75-c61496be24af phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:daea371d-38af-4d53-8986-282dd2b9b49d phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9eb81429-65a1-46ca-bf7a-15e5c9e6678c phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:2349f4fc-244f-4e1b-81e1-7619dd9ac30c phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ad58f2f3-fa6c-46f2-86c5-c64dd0f64b53 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6abc4b6a-5f75-4608-b2e0-c5742462dcd5 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1a34a318-51c1-4bde-a338-e3648bd0076d phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b26eb07e-931c-4fff-b264-0ae2a0158730 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e588d665-53e2-4f98-a611-656c17777097 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4ed373d3-e073-4ce9-b25e-12ea9ebb2aa2 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1efd05a9-dab7-4cef-99ed-3b85e5287afb phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca0c9e6d-3614-46e0-ac30-15d30def061b phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6aef0025-2dfc-408f-80d7-d58d915430b7 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5998738a-9550-4d18-941b-ddcc5ac57bfb phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ffa49f93-2d6a-4181-87ea-90cf992eb13a phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7f42c8d5-d089-469e-a15a-c638cba068d3 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7419da2b-ba2f-429e-abcb-9b279346f7b8 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f2228630-0bdc-4e0b-8352-463b3dd66388 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a6f2b17a-88b9-4824-8ea3-1a3602ed936e phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9667d9e7-d35f-4da3-b428-22eba457c73c phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f838430d-ab8d-4c5b-97c4-e508cede7d01 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cf9a1886-e515-40eb-8eba-4588cd0a2319 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b14534e0-b132-409d-9179-9bc3f6617e53 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:46e96a33-7ac4-46d9-afaf-8ca0708506f0 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0b569d09-f069-430a-b071-4b92a2ab6827 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:916a91a7-adab-4463-8d8e-db725403de6c phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e235e2e2-9537-4485-a14b-3d9c48628647 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5e5f12e8-2517-40bc-8f7e-88301013ecb0 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4e1275e1-fd79-4326-a959-2f8c2c5c8201 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cb95b1f7-4b30-4dda-b545-61b435fe9b1d phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1295fcc0-c397-4dea-8852-3ee62ddfd598 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:abed8159-7c8c-4dec-8338-57556dcbb6c4 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9c771cfc-eb76-48a6-92ab-38841d8a3eae phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:952d091a-f680-4532-81c8-5befcb8fd7b2 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2f1a21fa-f454-4991-a771-708ff62c27b5 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d5938f1f-b192-48ff-ac99-9da3a81b6948 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:94617750-9e1c-45a4-8c42-34d0e3fc1f68 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e58bd996-f38d-4a05-8f3c-1e828646fa1b phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:aa8554e5-929c-4c18-a568-0b0f30d7ff42 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cc8a85a0-7857-418f-a409-cdaa540cfb31 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:32f7d566-ca6d-4ce8-99e5-a07deb8aa409 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4daf2adc-bb2c-4cec-9d24-e90aae07ef17 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:be1a58f3-b3d0-41f0-84f7-923a768d5dde phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f36c8584-ef6a-4cc2-be0c-f7780d023d56 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:882a668c-8200-4e70-bb8c-4c82e73fdfed phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8423ee3a-0587-4aa1-b03f-3854e90b9e59 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:af7ae5fc-9980-4dae-9bec-ecb9cb92826f phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:693d5b09-98f0-4a77-8ae2-f7c8af0da70f phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:185ef315-d8e5-4c6a-ac85-caa9ebde62b5 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:94fb49fa-ba2c-4940-909d-90ae72015e00 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:74c82409-61e3-486b-80bd-810f65531756 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4a5b7d9b-9922-43a1-93d3-141b48b51189 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a7457d92-dd07-489a-a95f-36bd59d0bb3f phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bafd6d4c-0b8a-4eb0-9aea-c50171201151 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:08008683-2257-477f-b71b-c1e527db5aa7 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9f3f4372-2185-44f8-bdbf-af2584dd7fc3 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c3b2298f-c70f-41dc-a63d-221966d12df5 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3b8a6089-75c4-47bb-9d99-f43b131a7689 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c73bf6d1-524f-490b-af7d-83d835ce2e85 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a44ab052-e0d8-4fe4-91ac-16c39c5fdd25 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:82785724-2068-4164-b2a9-da3d1d1ea040 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:14f0e894-bdfc-4110-ad68-87e72f92e4a3 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f6218770-ecbb-429f-820d-ceec8d8810e4 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:03103d40-0a9d-4665-911f-188613af8347 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:86fa558d-02f1-4aba-bc67-1ece0d328f8f phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:80402423-7178-44a7-9fa7-724e2f1be4ac phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:00058499-c4d8-4355-ba2c-3e2f6cd2b336 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f334f162-f053-4901-a5cd-8e27f1575558 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:49f2ce1d-cf14-4033-9710-727842739193 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:24322f43-60ed-4f08-98c2-c3d80e3ab13d phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5bed64c8-ca86-4659-a4f0-c2b01e895a5e phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:62dd8c9b-4b5a-4e95-b788-ff2d9ea3e6b9 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:93922ec1-7da6-4949-ac3d-9a353af60573 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bb8f7b69-9adb-48d7-8108-aa8d9c9624f0 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f4a3dc07-2acc-4e68-ad75-203269f8e5d7 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:efcc44a6-c8f1-4922-a35f-b85605ac84cb phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:78ba7037-50d2-486c-9478-a8f37010cda2 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba9ed1e4-0c18-47ed-80f0-be5c20e4af22 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8d177137-9432-4742-9670-0a7ea55cb836 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:111512fe-d724-4001-b829-acde1e957224 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fc62bc8a-f68d-4065-a5c2-c9fa0b98de3a phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b5ff6eac-6de9-4617-896c-89f0ce0a5bdd phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7d25d02a-3985-4bd5-b880-89e811030117 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2768f899-03f5-445b-bb2d-6493a835655b phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37947183 uuid:48946141-c3ff-4d22-9fc8-f98fa5f0e5da phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:a8a789b0-64c6-45b3-8890-22d00cb12c3d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37947183 uuid:98b3974c-bd47-4688-95cc-a33ec26c9c11 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d6687fa1-901f-4c83-8557-3b7c797befef phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:43504ae9-fb03-418a-a617-b6b217135621 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:b2d44b66-de0b-4a6a-bc08-850fba11a768 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:06eabf74-bb52-4ffc-95f2-89b9d806e4b2 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:5029a293-ed85-4502-b1b2-77f10ec6002d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:1e5f256f-0380-4a32-9e5b-2d2c837124f3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:be24c381-b310-49f5-add9-8f3ef9bc1572 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:9c4741d5-ff87-43f8-a6bc-6e43beba4f04 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:b23e2d75-4ab4-4f9e-bbb4-b28403fcc183 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:66bc0f5d-12f3-41ae-a211-662a20f70f1d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:73d5b4b7-9bac-42aa-a308-2d8d37ace49f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:ba46d1f9-4993-458b-9d8a-9525548e1e87 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:49ad4340-f71b-4d44-ae15-be0c2ffe77fe phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:910e2e82-144b-47a8-a54f-6234129b82c8 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5ba02343-cf18-40cf-bef2-502d3f0aa57a phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cd15db9a-c590-4805-92ee-37dd77103887 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9f148735-5177-4c9f-b2ec-598f411b44ae phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:66186724-f8b2-431f-9870-9c427c4cea77 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fd7be69b-a8d3-4bec-8a89-481208ccc54e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6fbb43bc-8529-4f6a-8ab8-4884d3d7c041 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0c27e926-be83-4537-9bf7-4ac791a8cbc0 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cb4e3622-38fa-41e2-8d0b-ac005ab7373a phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7db0504d-0fd0-467d-9aaa-4b34f9b4e5b1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:35d06bc2-0b3d-4736-bf00-75ae1e97ffc4 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:360d128e-435b-453a-aeb0-3bb15f3ce4b9 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:55b79681-d0a8-4439-8ba8-7761464136e4 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3bc9007-dadd-465f-ae68-c9a18240f844 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c6775688-817a-4efe-9f0a-75737d1492dc phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4ccd0091-8c12-4c81-9a50-bb09ed567685 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0cc1d4eb-7038-4a69-baa5-15f891185afe phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c80196e9-91a7-4dd7-aa34-a8f75e4aad25 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:98b78bca-58df-433f-b130-f182f3d729d6 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9e6826be-87a9-4d91-b570-0942a56b9189 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bcd2e8f2-ea78-4743-9536-9d59f09cb8a7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca31a6c9-413f-4392-8e3c-59880e1359d7 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:bbd103fe-71d0-4b21-b31b-65c757ee497b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3448bcd5-7ddf-4081-af53-f0839e76daab phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:526dc8d9-de9d-4d9f-a11c-0966a30aff0f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:30332abf-00dc-43e8-b0da-bf66a2641995 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0e6e48eb-5bac-407b-bac0-f3a4b8909af2 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3a80c446-d4b1-4360-8d5f-659dbc4e547e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fb06aa39-9e4e-4884-853c-ecfd4769f059 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2a4d5a14-f87d-4791-a829-31f6cd5eed49 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:299ef9fc-38a8-4f58-8eae-f12996c6ea0d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f7d40d51-5088-4aca-9596-ff6d5c91704b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1841acad-8bb4-49ba-9aed-b0f6f4417def phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5e405d7c-be13-4c68-8d2b-5d41de0e26f5 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:70abb21f-2f83-41bd-adb4-15a0aab6bde8 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:17209a66-078f-4213-b86e-31f827405d13 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3d9d94c5-800e-4f15-9068-4c420ee0698f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8a2d533f-bd97-4f8f-9c7f-12353077779b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b96e9ef6-50c0-4287-98e3-66cac7a78abe phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e04ec630-dfac-455b-96bd-6cc66b949f8e phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c8ff0d5e-8a6b-4269-abe1-313b25679801 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:651ddf46-e89d-4d38-a41c-090eb18922f4 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cc18e30c-31b4-4961-a5e0-fba54bcf97df phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9b096050-dee3-4f8a-a8e9-d3a1f423f379 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:629f2d9c-bc48-4218-a8a6-5ac3bc0de2d3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d39b0d52-4b3a-41f3-8056-a971b1c0fab3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:86674a5c-99c6-4cfd-abe4-9f4530fe1720 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:da77c0e6-a6ec-4241-b073-623eac2d0017 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:28005dd2-bbde-4725-a65c-190938339fe8 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:70b44ac9-d7b3-412f-b95f-47f0c9858337 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c7975487-9346-48fb-8f63-587b2f980c16 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fdb30320-b9d2-4b8d-b6cd-b84511b7045b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:072f755c-66dd-4cdd-bb30-3aabc5152ea1 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fb7ab5ab-f1cb-4dd5-b5c7-826d6751ffa9 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9488a07a-fd91-4d9c-90ad-08db652ffcda phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0803c1b5-2b83-4521-bd8d-dc493f6fb79f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:29fd826b-6930-49ad-9b4a-dd19feb8a30d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:45032635-9e19-49a1-9256-928dacaf2f86 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a25103f2-aebd-49bb-befe-f9a066edb159 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b6e8d196-3eef-4917-838c-3a76dc972458 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0e05976e-7db6-44d1-9a17-deba989e4aeb phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:70916095-65ae-46b3-b3ff-669c4c12482f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:468d5690-6b73-4264-8dcc-6c8d43700686 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0b1a6db6-77c0-4cbc-8180-5c860c6c5c3c phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3d1ff0a-0db1-425f-8084-7f3c190ea087 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8e242da8-73f9-41a9-98f8-4af56a84a46d phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ca5ad4a5-4c15-477f-a1d5-336d061dd062 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d86f5e06-b703-460b-9f69-3f222c527e8b phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f96b9951-5cff-4768-b9c2-9eb2b7729170 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4fe8579e-9a24-452b-a234-8939676076c3 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:164e66f4-828b-4cdf-9cae-3cac4a5b1789 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:73c1ed3f-b9ef-4bfc-9724-67b862d862c0 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2307e642-6953-40ef-90e5-55dd16bf25ea phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b14c8adf-a73d-4567-b662-7ddea00ec178 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ef4fc43f-3197-40c2-9ab5-c9077a925209 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2dd655a6-b50e-4cbb-8fd1-627925101871 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2650f9d4-d26f-4493-8586-8bdd02c0badd phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:15a97ec5-ae01-4ec9-a96e-2ad2e4c4c806 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:759cd53f-846b-47fe-bc30-564a61137c85 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2f194690-9fc1-4f12-b8c7-7b1be9711bfe phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:da063b1b-1cfa-4f99-9556-f2755a0da9a8 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d2e3e01c-4c43-4275-9f44-4b3e1f673b0a phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3b325fb8-9169-4a80-9c44-c2517e993763 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f13f91ad-3a4f-4f31-af8a-915e074bf38f phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37947183 uuid:8ab332f3-c8db-4613-bedb-5851fe2b4682 phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:b245f7b9-fa0a-4b6f-8a27-f71befae5f7e phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37947183 uuid:e9470c72-16a4-4ec8-905f-2491ce36d8b0 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:af5a237a-77db-4636-a98f-ba9f98630849 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:38ff95de-51f9-45f2-b247-2d663971a755 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:76030251-043b-49f3-9368-7defbb4abede phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:6597662f-306b-40b3-9adc-ccd612e9bdb4 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:463ea50a-d760-4f2e-86c7-6ce7d935ba4c phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:540273a0-57fd-40cd-87fa-f252fe0803c6 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:624dcb83-a485-49d0-8a9a-33c7e0b17552 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:703dd4b9-eaca-4400-ac03-804fab4c0406 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:c49695d6-4404-48b4-bae6-46ec9ad73f6b phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:d478978d-eca9-4247-b0e1-a2c1b17267ef phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:698a4018-02ed-4fd2-9ce7-6ff21b32a16a phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:03e5be8f-495f-4620-97f5-d08640b1024c phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37947183 uuid:27a976be-8fb0-4453-bab7-130ed08de140 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0a738ba3-b78d-4342-9722-37e91728f5f6 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ee79db18-72ef-4e3e-80dc-584aa6fc1356 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f5fd1e22-cb0a-46fd-8b32-38fd82288f42 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6756ca11-070d-48d1-9bdb-981c896b7250 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2ee3351a-d414-40fd-8b0e-1f7c83d81b94 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:47e76dde-56a9-4b56-97f6-dbb99a7a627f phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:46fe39d8-1c68-4a23-8c7f-afb49b16eb69 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:cf7cbead-6858-431d-94e5-2f87f369f119 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:02cc74cc-f20a-4193-9f18-de91e08714e8 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3ed7b73d-85c2-435e-a0dc-99ec22222c88 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e2788c7c-21db-49ad-8d0f-6b04c28ba5a7 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d02fc33e-b94e-4b22-b8c2-e17494db1411 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e36c3099-6e08-45b6-8424-b03e3261b8e9 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1580d747-70fb-4f32-bffc-1df3308a8fea phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9967a731-2baa-4ddf-b94d-27feb6c93347 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a8dcf143-4fce-4cff-b8b2-259ad64304e1 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c41295db-ec78-4f2c-b29b-bdcf3215e5bb phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5b5e04cc-14c7-4e22-b80d-f69de0103621 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:3bb2618d-6aa2-415d-9578-cf2ffb0bdb9b phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ec86883e-f2f6-4092-ad26-29677feb7b78 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:721e9db0-d895-46b9-88a3-b3c71bdb2ccf phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c2d57e78-2bdb-4739-941f-2a412eec536a phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0400000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:52a73d49-d0bc-44a8-aee2-55c03509ba3b phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c1e57007-e185-415e-a616-313697cd1ed4 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:32121123-54a2-4d49-82d4-3f270018bb1c phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8041b0c8-28da-418e-98c7-3f205ad005d1 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0f39f7b7-3b6d-42f7-89a0-078d68f81fbc phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:48874777-fbf7-488c-985d-afca1c896e1f phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f5235b45-7992-4fdc-ad76-d170e4249f7a phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:45961687-6957-4c26-b080-28ff36a997a0 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:dc80c1f8-fa80-444f-b96b-39d178101223 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9a28083a-3654-4fee-963c-57472da248b6 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4a217fc7-f379-49fb-a70a-0bdc60bb4eec phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:504b28c7-26db-4655-9b6e-44f516685a3e phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:5f665954-f25e-4f66-a1fd-d825f1abbe89 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:542e02b8-352b-45a3-af04-3899a949cb55 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ac7fff15-e4d1-4115-9e22-8ad3a20d5f5a phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2bbbf538-039d-47d2-bf4e-db4a8af3ef2f phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:0acfffb8-c1f6-4236-92f2-eca914d3f507 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:43a7e3bc-45cb-4e56-b169-d01a0e52f744 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:58d8bd38-d7fe-46c8-aa09-16af6d609ebd phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b18ccc8f-d056-457a-87bc-c10ab465aa45 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e8edf261-7611-4e2e-821b-852b1159bbae phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e625a240-ef9c-411e-b00a-6b146387886b phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:453798af-4c59-4730-8eb6-9f02851efeb3 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:aaa3b670-c397-40c4-ad95-23a5d2871beb phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ecd1a617-f747-46da-ae59-ccaa99e17761 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a84dffb6-5f83-4457-bec5-5c6e6c042e3d phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:539f67c4-5d52-4128-a119-a098418f97ba phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9f39fe42-1a0f-4578-80f2-ce15574946a5 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:4277bfe1-f62f-4f54-b93a-3ec9ceb2bb38 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d92dca81-9870-47e7-b826-ec3f75013287 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ccf56dbd-fbff-4af5-86f7-1ac31565b6e4 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:7c4a3833-eb38-4f8f-9308-076a0c8c94ca phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d8c020e9-d230-4aa9-8bc2-0dfc92d0d49f phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:42524e70-8fb7-4a60-bfce-b8c1e3010f37 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:8de66443-07b4-41d3-b01e-9b73deb42d46 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:2c688cf8-bfdf-4eba-889a-b44550a34877 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f65f29c8-888d-4a47-9102-c9b09fd918ae phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:92538bbf-e0ef-4806-b0a6-9f815fa0f47c phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c0454ef4-debd-4790-884a-1f4d08348e66 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:b85b2870-a223-4c4b-9b59-dcbfcdaac101 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:d1231015-1fca-4ce4-a662-a9b1a8420ba9 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a129b8ba-672b-4248-91af-c0cf19e83018 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:ba4d3b9c-cddf-4ec1-8789-10d08d2b4844 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f3ecec0a-0b7d-490f-8945-11a8a476129c phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:33f55863-60fc-47b4-9bf2-b44114f22c2b phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:a8c831e8-da0d-42a9-846c-7839df89d896 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:526e0850-e626-48cc-99a3-cb29f1e071a3 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9fba802b-0b95-409d-ac23-b7fe3fffd541 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:1e891f35-c477-4e9f-b287-01bc1457f860 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:018cdbb7-e732-4873-89c9-c9833b230c46 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:c7dd56c2-7a98-4a2f-86be-9446a56fd110 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:db8366e0-1bc0-47fa-8e6f-f0a94b23b372 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:f32ffac2-a875-4027-a0bb-f1bd6a960d7f phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:fb97057d-6d96-4f88-b606-31b8417bd7c8 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:77c9e575-b638-40d9-a196-119c67a4b111 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:6583c524-eb4d-4365-9827-e0525c581b5d phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:e6133bf9-6f6d-4454-8561-6cfe2261c4fd phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:64664430-33ec-4cf7-a18a-2cdb46dc2223 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:21ac2e11-b735-49d5-b274-e8a2e1babcae phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:9c85a316-136c-4a0c-be9c-cfdb7bbbcd49 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37947183 uuid:23bd5aba-cd1f-47d4-9053-74585a13df7a phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_disease OMIM:620771 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37947183 uuid:677a62f4-684a-44b4-bc6e-83ae854cff21 phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:has_gene HGNC:14630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37947183 uuid:fb445c0f-9ff2-4307-8951-2420b3db26f2 phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0007994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:30095615 uuid:77b426ef-e616-4d7f-9e6f-4cc31078a680 phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0000548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:30095615 uuid:cbc134ce-babf-4408-b7b5-be972a1fe891 phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:30095615 uuid:7e2ca3de-e48d-4084-aa0e-c7c928ea988f phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:30095615 uuid:01ae9da6-5183-463a-b47b-1c8d561234c0 phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:30095615 uuid:228fcd40-e681-4547-9e29-4dbea94c77da phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30095615 uuid:44c8d08e-dd94-4eb8-8c54-94b0501a9552 phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0000572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30095615 uuid:b8b5635c-9b52-45d9-b2a6-343b5861ecf6 phenopacket.store:CRX.PMID_30095615_proband biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30095615 uuid:8f69d1f6-3474-4447-a94e-bfecfa46dfd2 phenopacket.store:CRX.PMID_30095615_proband biolink:has_disease OMIM:120970 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:30095615 uuid:5526eba4-e85e-4e09-b4e6-685dcae98a6e phenopacket.store:CRX.PMID_30095615_proband biolink:has_gene HGNC:2383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30095615 uuid:12e4fbcf-c11b-462c-afae-7169cfd241b2 phenopacket.store:CSTF2.PMID_32816001_II:1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32816001 uuid:1dd0654f-ed58-4a0c-b88c-77506bbceb19 phenopacket.store:CSTF2.PMID_32816001_II:1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32816001 uuid:fe5e69bc-24de-45f2-ad69-b65a98ee26d8 phenopacket.store:CSTF2.PMID_32816001_II:1 biolink:has_disease OMIM:301116 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32816001 uuid:91d148ea-0e7a-410b-9469-d92498bc0b39 phenopacket.store:CSTF2.PMID_32816001_II:1 biolink:has_gene HGNC:2484 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32816001 uuid:e2d84d80-6ae4-438c-8d11-be9189ac9ed2 phenopacket.store:CSTF2.PMID_32816001_II:2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32816001 uuid:324ecd1e-3fb0-483d-a7ac-e4d4875e627d phenopacket.store:CSTF2.PMID_32816001_II:2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32816001 uuid:1e95ef40-9453-43bd-9755-44b2c9a3be6b phenopacket.store:CSTF2.PMID_32816001_II:2 biolink:has_disease OMIM:301116 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32816001 uuid:30a07684-5da6-4744-9907-9c0d5177ee9f phenopacket.store:CSTF2.PMID_32816001_II:2 biolink:has_gene HGNC:2484 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32816001 uuid:81481f33-0dba-4fc5-9ddb-eea917ecc498 phenopacket.store:CSTF2.PMID_32816001_III:1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32816001 uuid:631ca002-c67b-4923-87ea-ef02e02a2840 phenopacket.store:CSTF2.PMID_32816001_III:1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32816001 uuid:6d7f3ec8-61bd-4754-9c3d-970715250314 phenopacket.store:CSTF2.PMID_32816001_III:1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32816001 uuid:c349f1b4-824f-4407-88c8-a207859a3404 phenopacket.store:CSTF2.PMID_32816001_III:1 biolink:has_disease OMIM:301116 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32816001 uuid:c07e0a94-0a6d-4329-b63a-9897a0e2d06b phenopacket.store:CSTF2.PMID_32816001_III:1 biolink:has_gene HGNC:2484 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32816001 uuid:a3e44297-1c04-4ea9-b3e2-cc7c2cf78c25 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:507c3442-af33-417b-a89d-5590a07dfe57 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dbcbf9fb-9eb0-4022-bd0b-f56c1f28be38 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cc51a2e1-651c-484e-a33c-4d65243bffc0 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c3700680-50e4-470d-b367-a6a3c1963e31 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a5216d61-e1db-431d-881c-0cbf36f9e4df phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:aa5c9862-7dc8-4a72-9fc1-3e02891ae3b2 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e3e71afa-1ced-4e7b-bcd7-7e6776247d0b phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fe3b7c55-d7f5-4f9d-97d6-198a98cf7422 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4b2a0214-d5d0-4648-b936-2bd4a1f04d41 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:093cf708-783d-4692-8d72-51c21c8dff4c phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a66f49c4-9927-4bff-8441-9665ac1fb006 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0208e9bb-ca61-40f3-8dee-fded40c15caf phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7b7e235-c559-433e-9104-c78928d5644e phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0fedcfe0-9b83-481a-89ab-27d08ca02d94 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da56c348-baa8-45a7-831f-b670bc41ec5c phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:903ed3ae-c794-42d8-87df-29880e8ed9ab phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff50f2c5-5c6e-4ef2-90af-f864699a750c phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1604225e-8911-409b-9f21-3beecd80997b phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f376c1b-6590-400b-985b-058a264c6dbe phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5accbe0-eafd-4547-80f8-d7743ad98616 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc390389-2d07-489f-be04-68b6947dfe42 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55baffc4-4596-408c-984e-60a7f38dee2d phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4596079f-2332-4350-baa6-13e7ba08ceb7 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8deef723-97f0-4f27-a225-275b866fac72 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02d03109-bd52-4e30-bcb3-eb132d20f970 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77796251-ac11-4d3a-8bb4-2ff72612d2ac phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c35e4631-8af6-46c0-b024-514cbfcbbd0f phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0a1f331-b4f9-4b2c-889c-fa67a1b430ea phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a2b09bc-c01a-4545-acab-93939d01b1a5 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4ef5a0b-d200-4b75-8e7e-f71dba7f0942 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:27388b8a-1b4f-4b06-aeac-cae3c94bc358 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ffea5b07-3046-4aff-bb21-3356d2e78486 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c07a9e19-8d64-4507-8d91-643759889fbd phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16b4584c-644f-4439-89c8-23cdb5da3bc4 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40c70008-1ccf-415a-8abb-90e7f35e289d phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77bb9d98-c650-4f5e-9fec-54c753ba52e3 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c090d7a-24f0-4a23-bf27-2455e3d4e7c6 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d764859-fd2a-4fd2-b259-1364ff78df9a phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53b25ed1-615b-4cc8-b732-78eb2861f0c7 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5aa77431-3bad-4399-9201-606661745e57 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3ba1dc18-8393-4f57-8cd4-7e8242311738 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2348bf0-ff63-48b6-abe0-25262ee4a069 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72f1a039-9e0f-4681-b9a1-9fadce062b16 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99be7639-51e6-45fc-99ad-c5444a63e749 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:953f5b87-be48-4b20-8d95-5694ed9fec61 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53ed7abd-9447-4da9-aec7-1dfbfceab988 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fdeaf2cc-dc46-4c5c-a2c8-b32b8b593a3c phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc1fdee6-20a2-4473-bf69-ded64196ee6a phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3acecb90-2021-49ee-a8aa-60dfa1ee9b61 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a07aa7c0-b896-4054-bdaf-fda696de2643 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a2cb63a7-ed9a-40d6-88e1-56924b9f01aa phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e562adf4-5316-4304-a3b6-a41ab354dbd8 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b1b9894-7c28-44a7-a317-dfc35fc52db9 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:603e9481-d0f9-473a-a093-f4da79a98faa phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20e584e5-ceb1-47a7-971c-f1069a88ab17 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f80a8245-b977-40de-bb24-00d90ff8776a phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ace3fdfb-6264-4ac1-8419-e5ea2904f591 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:070bda3b-dd9e-4172-b6c0-7436078ec930 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cdc6c767-3f77-43ed-8afc-28e86cb3211a phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e1c1cd5-2ec7-4f6a-9d13-b5be473683af phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:268bb009-771f-4381-a372-9ad3bb9980c1 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bd9834a-e7d6-400e-bdc9-fcffd86799f6 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fdd1d839-6431-4afa-a6cc-85c82336fb02 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88847d4d-d646-4c8c-9d62-0b14e6c6edb0 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9aee71bf-ea17-4cea-beca-248bcdfba54c phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a71572fe-4c3b-48d0-a625-7e2a09dc9125 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15a0c78b-3ba8-48e3-9012-a760874ca7da phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1da6239-41f7-48b4-8752-886011e5928d phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:606ff724-0d14-4c9c-943f-62a1b6650e92 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7cbd3c59-1b17-46c3-a274-a4185b3459c6 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb23e9c8-e152-41ca-b455-8bc2ec9de27a phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:998eeeb2-474e-48bd-a41c-9b8209ec6f8e phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:684fe46c-c3ff-4c8c-b185-6f46b179f7a8 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca77551c-6968-44e7-9a37-b0f3522e4328 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a270a4c-6eef-4ff1-a68a-613acdc74a90 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a840e56a-5987-467e-80d1-016862b47009 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce7d7d43-d592-4913-997f-077d1393ee45 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b92906e7-ecd5-4a98-accc-de6565cf6d68 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c7a7472-17ac-4e76-8a39-d544995bc6c0 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8ae07bd-710f-48a4-8814-0f3a56c52d01 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa2777de-9869-41b2-b846-2585aa88d496 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69cb6b08-09cc-4c92-aa41-98057b17b277 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96e4447b-835f-42a5-8b30-796d079c1aeb phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd8857f7-17e2-469b-803d-cb8d78cd569e phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b6bc972-f7db-4796-9030-23670ebe5824 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6dc21e77-0fe1-4ea2-8f34-5a50fb7d17aa phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10450431-61c5-4a50-b78d-8b5ca5485fa8 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29f8d27d-6df5-413a-b718-7e4d0bbefabb phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9aa0a8e2-fa1a-4ff0-b1cf-2d255501708d phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4fb8afe-d880-4344-8c89-00f63b67e5ad phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45e1c0aa-1756-4ca9-8bb9-18e58540c7e4 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:142ce82e-0079-443b-a1f9-535ab571d260 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8b0eaf3-d03c-41c0-b8c6-417308d8b997 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d5f384b-beae-4f02-ba4a-acedc6190270 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b34ad6d7-73e0-4db7-910a-1fca12103d7c phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:020450cb-12ca-4036-86bd-a164987c1651 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9245e155-67a9-4f2f-953c-c0f732331ae2 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48da5713-48f6-4df5-afea-e261284d7270 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d4aa833-535d-458c-acb8-885d2029d844 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e5df5aa9-9577-4e1d-abde-bd86b2e13bf1 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:158bac0e-46a1-410c-8ff9-0b2d9b98a4e1 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ebc2176b-79ef-4030-b203-bd5b1c1f6ef7 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e49c49f6-f5d2-475c-800a-2802cfa97781 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ba803d0-ce13-436c-9086-1e9215df0a19 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45c8a9d7-9bd4-452a-8c43-84f00fcbba44 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:138202b9-5d4c-4bc5-9d23-1cd24fed9567 phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:9a76514a-8577-494f-a264-bbc6da682bce phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:284a51bb-2e77-4cf3-81f5-492880066d52 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ab5f1e15-ddda-4722-a13b-249068189828 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0c7fba76-c82a-47cd-8918-75cfed91e7f3 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8b74faa3-d84f-4355-87e4-052047687874 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ff3fe16a-c6dd-4bd3-8344-ff8d0fc9c3ad phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6d642ae9-193c-469f-be7c-c7c67555fe6d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:182d0ad0-0014-44e9-8ebd-4ce30b4a31f5 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2bc8708d-ab7a-457a-aaf4-1b53aeed65f7 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:191d464a-a896-4c9d-9c66-f335865f6e7b phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:944cfd31-f0c5-4ea0-a018-3718dafdbe7a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:53d3d63f-8dca-453b-8f82-defc3934b0aa phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:95e1a23b-1724-4fc1-86a0-36cc6441779c phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7e6c0310-d8cc-4d51-8342-522d3265027d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:75f08f28-663a-47fd-b17b-5fdf33a542f2 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:614bb601-4674-4db3-bfd6-51399a08433e phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f2704c0b-ace8-497e-8073-aa207f2c5bd7 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6051a970-c720-4a73-99b3-b04196b195a8 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74149fa3-9086-45c5-9dcd-c183019c204d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1367759d-0e09-4adf-8a63-78fbf52ab808 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ea162e9-7bb4-44d4-8476-607dae7b19ef phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60f44be3-30cf-4717-a482-fb8efbc37270 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cecc9ca4-1697-49fa-9834-7463f733edd2 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5688ca4-1b7c-423c-963e-f7d6a4e8e5ba phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3832508e-845f-4b8f-9d2d-e815e3a16e8d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5758a4da-a219-48f8-83e7-204fabff5088 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7af44f05-1277-4ed7-9458-0781ba21cab3 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7cd727a-32f9-4b7d-b289-d6740bac799d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b379df2-f447-4a07-85fa-b1d527535bde phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d828d6e7-3d89-4042-a754-450f6cd9cdcf phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:199dc761-e7fa-4458-8113-8b6b3ef036ce phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5612b531-7c1f-42fc-b586-45bb861fbb44 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa7686f7-3668-4f97-8e63-b5829d12d183 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:392435a4-3456-442e-9e0e-d5485d1e72a5 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:392d15a5-68b0-4a24-af41-be415aa68b55 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e06505ab-63b0-4b8b-9ac5-01960fa210ab phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80a8d1e6-24c6-458a-9ab8-c3a7bb42dcf3 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a94e23b2-08cf-4670-8730-63f1160c6e3c phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce6fbe21-5291-480d-8ece-718c2789c388 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2190af3-afbc-4e3c-b856-777ef060981a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bea6084a-028d-4c7f-a33b-9b6f5421808f phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b90005f5-0e5d-42dd-a3bb-bc960069e209 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44444d2a-e106-4335-bd23-98c860905e99 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:78b5f265-b8e3-4e21-9a65-735d0a6f660a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21c27f4a-76b1-4089-93cf-1c2061d9b3af phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39c194a5-394f-4db5-b2f6-28f22d4058ba phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2949fd0a-85d1-41a7-a27e-f07a865decac phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:feeee106-720a-4b21-a85f-3dd3cc440458 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60616de5-da3a-4395-8c82-cb9bf06eab8c phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:269b9c04-cc2d-4cee-a768-39574b140ee7 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:109a17ec-9daf-40d0-ac5a-ff117e5ca487 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a1420544-87ac-4490-b881-3f5c58ba519f phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c6652dae-6e60-40cd-b8a8-724dcae5a3ae phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc0c6ea2-d0f5-4f49-96dc-7cc07bcead4d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a01dc0cf-e95b-43fb-9dfa-2ed2462c33a3 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2834183-a5d2-4877-974a-98f07b50151a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35f8ccb4-1cbc-43ba-9250-88e3621fac2a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ac6b119-2954-4570-99b4-eea4a911fb12 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f024bf4e-7337-450f-b5bd-69e9e81e7121 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5156947c-d486-4397-ac5e-c02eb89601c0 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f861cb5b-4b59-4525-8722-a9c5e9b0222c phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:072dc122-7f9c-4dd8-b9f2-bb91a1b7cb83 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3aee67b4-e947-4288-b4d0-072777b395b4 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dce4d4bc-54f5-42c1-bec9-f8ffe9a2861e phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abcad767-d8ba-4e76-8a1f-8a168d72d32f phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d2775bf-2c42-4e2f-9c31-96220af7d348 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:731a6aa7-27dc-4acd-809e-82c85c4269e2 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20115d12-fb9f-4a4c-85dd-ccae7d70b4ce phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7339f6fa-9ce9-41f0-833b-6cdc76180f9a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92ba2cd9-c058-4f36-9c46-1a9d4b5d27af phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47b5d4d0-262f-4b4d-b3ab-2f6a637e5474 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2979b37a-8f59-43da-bbff-34dfbafbeabd phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ece9198b-6c4f-4d26-aea9-825cd26ccf9e phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2f77f1b-9568-45c0-a3ba-7dabfdd916d4 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2eeb20f5-61bb-4267-9d49-468f7944249b phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5bbca572-6cd5-4df7-b3ce-0fa249742ab0 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15ac3bc2-42f4-44f1-9327-2a5c706b1157 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae971910-a2df-4d98-b531-dcaa7fb27b64 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b37f4ff7-8b08-474d-8367-04f0dd1aeedb phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:349a5c74-d94e-4b25-8b00-6474d20d7342 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf312c12-d67d-4415-a882-632611a5086a phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:22d0da1e-b45b-44bc-8bcc-e4890f715631 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d88e210-1d03-47d4-9755-fd4247bd9d18 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7aca1528-17f3-4dec-af1e-f56840ff8174 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1623b31-2a17-4014-a496-318677959ecc phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24ffb3e4-f06e-4072-908a-4904ef74c9e3 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0f6f493-3fe5-422c-a678-5b5e64d33086 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37a9d9b0-9beb-4f8c-8aa0-537f5207a162 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67ecd2e3-e570-483b-9268-107fabb773de phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87829665-06e8-42ef-9a68-24999eae9f66 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a2f43fe-0a87-4d08-88e8-0c5c58653bc1 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7814426-f83b-49eb-b860-98bd33241c93 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21bbbcd0-03bc-4d78-8b4c-98f07bd6787c phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:615cdd9c-c32f-40cb-9291-54087bbaec4d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58177a31-5e73-476f-9643-9b4a7a54f10e phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f1f6e4c8-d0f3-456e-a3b2-5e3e3780da35 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c93364a0-332d-40a3-bcd2-20b11dd40c4d phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97012411-1469-45a8-a639-8b57fdb2e9a0 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2cc4e432-8867-4c0d-a587-f659cbf4638b phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5e13047-9455-4c10-9fbf-f3d7c4cfcaa4 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20ca1937-0433-40b5-b402-c5efa470b0b8 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40526a38-9ba6-45ed-a5b3-fb83f4aaf8f8 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef3deb76-40e4-4527-bf99-06bc8313b0ea phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a1858648-d72b-42e8-b710-5bb06517d046 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7982f41f-a4e0-4b30-816c-5532daed57b9 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ceeabd40-bf6d-433c-84e1-8d021934b92b phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:81d8c704-91a9-4fa4-b257-a4eaee0ca482 phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:885e74aa-fcbb-4e55-be7c-fcb23d6a0916 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bee6efa0-bcca-47b8-bdaa-bc9f09d77afa phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:eb857b43-a059-4b84-972e-94f32d875b4e phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b89ee2c2-f2c2-4d80-a1e7-0f775d6fb1ce phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c4ce2d2f-f3b0-49c6-b72d-27f56d9fb6ad phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:26017248-79e9-4532-9c5c-c1f131d9abf4 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4c391614-64df-4ae0-a33d-ec5ca63d071e phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:835575bc-ce3e-4b1f-8288-d745ae1a27c4 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:22593569-aa5b-4af7-9688-fc89668bf5c2 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3d61a553-e3da-4134-aa16-f13c19a0040b phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d071d57d-c217-4d66-8be1-bf8de757935d phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9dce5379-098a-45e0-ae1d-9056658e8410 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ac70f9e2-f2f5-47ef-b74d-db1caa543c74 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5358c2fb-1824-4856-96ce-60d39241bfd7 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:35cede18-489d-49c1-b62a-8bf54e1f51e3 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:64906863-7317-4724-907a-265d2d46016f phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e633f013-6245-44c7-984a-360427731416 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7670e8a2-e0d2-4ccf-9f2e-6220ad3c5f99 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02208609-2dfb-4a5b-ae62-cf01ef02f88f phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97cf718b-3877-46e2-ad18-1e1fb560953c phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bce02a2d-9617-428e-97a6-725b0574dd9e phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d1dac1f-5d3d-4e16-a71c-d1ff7f3eda6a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88e991f5-2baf-4246-a5e4-14f43356f1c7 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a80d48f3-16a7-4495-a222-5adb72e7bf62 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9621dce3-3a5e-49ec-a3df-64019df53caf phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b6a56468-0156-4bfb-95ee-802cec16ced7 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee463418-783e-484b-a2ed-15df39e27273 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5d194ef-5a62-45cc-9961-f2bb3de64a81 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff9823b3-5a98-44f7-9f7e-8b1e429b5a14 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7b26673-9d34-47bb-9209-50d2e84d10d7 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb7ee011-fbcd-4d92-929c-ffe5839e612b phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8097d5e7-8da8-4dec-ab3d-34d2aa71a2c6 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a04ca302-255e-47c5-967d-4844244753e5 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:586d18e1-4e72-4e94-85c4-57a79b4cb5cf phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24c95da1-3540-4437-9a46-5f2fbfc52ac4 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:570d3767-6aaf-4600-9569-6feebfa71dfe phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6cacb75e-8623-4e5f-b9a2-e2cc2c00ca8b phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:18c8e3db-0375-4704-9af2-1b5beedfb156 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92f6eb64-1df3-4ba0-82c8-d311d888daba phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e43103d-ee63-43b9-a283-21e49a2143b2 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77dd5f5d-ea01-499b-aaba-a9fb1b105cc9 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f492039-dcfd-4f0b-bc4b-f0ac482f706e phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ee3b420-1e85-4a7b-9142-25a56752917a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8af9d488-ca95-45ea-98bc-6ecdde1e94bb phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52725a5d-a144-4933-8afb-5fa8cb392a70 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d21370fd-7c71-4de3-b2da-aa456a4a04bf phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63c4bc9d-2447-4637-b8b6-6b34c2499eb3 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4cfbc4c-b6d4-4dc8-ac07-d999a6b83bed phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea89c5b1-bae9-44f4-ba88-212d9b8268f6 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:643ae55f-f592-48ac-9bc5-354c8fcd0591 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17fa03af-0a1c-4846-b293-7e83b199b13f phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:358f99ac-e429-4964-9dab-fcaef08a5478 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0dafa1d8-ece6-4615-90bc-e7ee62edb522 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d88ddd95-655a-49c8-8d4c-21e843e04a50 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e5f99f7-0224-4f61-bd4b-660346971b8a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e30106e-0c9e-45db-bf42-74d98026daf1 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b998962-e7ea-4db1-94a1-8a0ee47f6ff2 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f128f4f-4270-4d71-8b88-2847eb4d552f phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e5b89bd-3332-4ce8-b148-ca35dae5a2d0 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94bdff40-d947-4dac-a419-47f16fa6f9c2 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c56f9ee-25ac-466d-b472-bb38144bc2b8 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce812077-dd21-4305-8709-b54c4b3e6991 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69bc42dd-8585-498e-9588-4af30a8fa5f3 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6623b9ed-f677-4119-be58-304c69f501b2 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:774e855f-fedb-4f00-a91d-1439da2cfd14 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd98b83d-2470-43a4-83fb-00bda09baf86 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:14796b71-a754-49b9-b022-8c37fcba17db phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:476b6940-dec4-4395-83c9-6676657078a8 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93b519e0-36f0-451a-9a96-69279b9342be phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a3e6f685-ab84-485e-93c8-ec3443568f50 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b06f166-b89e-4e86-8374-a9ad62dbb2f6 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2654ad9d-d3d3-4950-bb8a-206a9439a234 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:feff5514-c7d2-43a0-9b3e-125c475844cd phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:89248e58-1625-484a-b9d2-3ec347c00042 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d17e6430-5615-4095-9d93-890890816f64 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c761f96-e144-40d6-8073-ca13b189c7eb phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:191422e0-5818-4e37-a13c-a483a4a487ce phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3d2234c-84d8-4655-8913-a8f4f8492499 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f26c2a21-379f-4e02-8589-70afb277faa8 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3445974-640b-472c-8bc9-b92d441f88fa phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:03d98604-7969-4692-8df0-50d93f0d83f5 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6cb3c3b0-1244-4f7f-81bc-0f6a1a42a2cc phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:449ad0bc-e73d-4eea-aa2c-95d261a86f64 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb880095-70d3-4c6c-a1b3-be4c3df8ba24 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d3fa56c7-a23f-4113-a377-0553bd2f11d8 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8abc4b47-45b7-461b-ab89-0fa98ef47dc0 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f6696b3-3afe-4b74-9302-593084746258 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f90f5c3-4af9-4224-80f8-37105045ba36 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4493150e-8f25-4212-a1e0-8ae9149fba00 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e5666889-db80-4f14-a082-7ca6532ca85c phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6371dbe8-a775-4c51-ae41-4a0b4806df24 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55c7a63f-4bfa-4c81-aa87-785993aacac7 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c67be8d-6cdc-48b8-80f8-b55c25dfde2e phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbca9dab-b1e5-4af0-86c5-2d05550f9f6a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:919eb8ef-543e-4f43-a5ad-ec0859e21c9a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c3fc0056-e38d-41cf-ad5c-f12c3a630f58 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef636cfe-5df7-4a06-9676-1a2490bfaa9b phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4c3c20a-6655-4205-b4a0-eb89c85a940a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b8b188e-cdfc-4b68-a556-6c90807ca21e phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:975de10b-9fa6-4cd0-b906-f3ce9f2ddb7d phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef8f9c8a-5d0b-475d-9d0b-cf169201493c phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:417e3938-8c12-4927-9533-27cbbca06e77 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51bec1d2-0b08-4b38-9090-781b3acd6b0a phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e13948ea-966f-4d72-93f0-c8e76d89c55d phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a69aa2a6-1d2e-4104-be18-e55088a0a26c phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2a3d02e-9442-44bf-828f-0ebe73bc17a2 phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:74fc6754-494e-470a-be57-42f80ec8f42f phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:40ddedb9-074b-4cd8-af4e-4e5a0198a8e0 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:49542ea2-b2fe-4190-b91b-e17acb4fb237 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1fb8f852-0e5d-41d3-b7bf-c3163bf997a3 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2337ce33-6791-4967-b1e3-82bc45623bd5 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:09656f76-9e49-4e30-8985-5871eb1ec92f phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:991b8ecd-d82e-45d0-b384-36bf8298b267 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:395d6975-e78b-4c98-b007-a3bd5ccd2760 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d0f6e9bf-7129-4d33-9a92-c9660dd9dc31 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1a4ce86e-f4d5-4ccc-a972-0c3dbbf7ce89 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:068dbafa-d7b1-486a-8030-d903d3cfd48a phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3bf6b317-6ffe-4be9-a638-706532b931f7 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:505d5081-40a1-4f05-b096-3721878d0762 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:349efda9-bc67-488f-b787-de49596c0b25 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd1a2129-17f5-4cbf-97a2-e1d10291a2b5 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7cd5659-5220-48ac-8433-69b72807c870 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa12c51f-eda4-44c7-a62c-3deece3056a0 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:938ac97f-315d-4707-a0da-dde8aedc9b0c phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:023e5d40-f904-4798-801f-7562efbc430b phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8077f3f-342c-42dd-976f-5dc44a32db56 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de9efee2-cf46-4a8d-9141-c85122970b81 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40b68687-cc89-4f5c-9c4e-1a9935a09853 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21d345d2-31ac-4093-ba7f-e9cbd3f5c64e phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c5b72a6-8196-4950-9d9e-68404c36abb4 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dbdd95d3-6f4f-424a-9d62-1948630bf301 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4eaad47-407a-48ad-9e0e-f636a3fbe621 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1038c5e7-bb36-4b3e-9502-fabaff6cfb54 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e42575e1-d9b3-472c-8394-1750fa65aab1 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:246cb84f-b8b7-4648-8806-a59258ffb7a7 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:81326ac4-caca-42fd-b0e6-773d2210d6f3 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5fcdf5e-a956-47bd-ac63-3a16784faede phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba8a08da-c25e-4a11-84cf-1804e655bd81 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4bf4047d-0f4e-4b42-adbe-b6a310470abe phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33425782-d497-4985-8596-e580ffc48f5c phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4dd8d1ed-1821-4d6e-a93b-f26420fcaebf phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c64115f8-e822-4120-8d5f-e6cc61210886 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad68a596-1d27-4b1d-a219-bde79b3a4e8c phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6050bf00-5504-45d1-b95e-8d16f5b5be56 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9da80f60-cb11-41c5-aeb6-12dffd3ab819 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:73bbd8c6-1993-48e4-9532-c9a1bdb77336 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:220d4a71-1149-4124-903d-5f923cf58b2d phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56089726-4858-493f-8d74-1fa308d98671 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44a2249b-c6d1-4442-ac5b-721d281e5d0b phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2016c18a-bbf1-4dae-935f-9ce080eb027f phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a5a12c3-e99f-49b4-8667-2e491ad10eb8 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:319ff685-36c8-4523-a3f4-e2dfc49fe09c phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf13ab5f-3c2d-459f-9757-79124b7abdd8 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c00f0e43-aab1-4150-9cc4-9a4cf9a6c3a6 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68be0137-5db4-4780-b625-df445cd2ee08 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0ccd472-beb3-4086-ae20-51cb78879c3e phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce61ac73-9847-4fcc-a29e-cdadc6f074d1 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62457982-665d-4b5f-9752-d7a066a91924 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71f35e3d-d62d-4b5f-b2ad-04b7c6aceecc phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b40fc0f5-5fbb-430b-965b-01fb7b964aeb phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5dac55b0-83f8-4e12-bd70-06ba5e7bd277 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f0d6741-342c-47a9-9abd-4d7078587b4e phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a14fa4a6-2f8f-4913-ba87-78824c797bbd phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a5086c5-ccf7-44fb-924b-a93ccdea02fd phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a9681b61-3a56-4258-a01f-d9f95af5d78c phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b7b92248-12a3-4cb9-a961-84ce79892f9d phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:308445cb-f6a8-4cf7-8ae0-7304b3658846 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab328cca-8d71-40d4-8f06-d630ba7edd4e phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9d1fd4cf-4301-4c36-99ef-0d6c6bc39a4d phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1b11710-a669-4733-9e13-e37bd5d6adbc phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb3ae78d-5730-4552-ac68-7e76738ef8cc phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8d16ac7-7fcf-4e26-b70d-ed09e9d461ef phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:082a4a5b-0fbd-46b9-8af7-1b1082b24d7b phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f7a4d5ca-529c-4678-b5bb-f05d294cdbe5 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6376ba6f-4c9b-4f3f-84c5-cce39eefdb66 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f756907e-2ea4-4ccf-85b2-5118eca07009 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49e54cb7-3a70-4f76-8135-fa1d28815f7f phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02c5feb4-ec92-4f3d-80ba-0cf4f6621c7c phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:485ac5c6-a1a6-4219-90c5-5a9134a10cb0 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b0a3cc59-c89d-437c-a7ef-0365a7cf2d01 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7582034e-a4e6-43ff-b34e-1b86b7b80949 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a19c228-38aa-4695-b308-ec0050cfd0c6 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa3e54de-4835-437a-b54a-81b35b8a0150 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9dd9520-a804-4756-9095-879e50512ffd phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51c2392e-80b2-4443-8bb1-21619235bfef phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29351c7b-2b4c-4ca2-a419-8682ad3c408e phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21b2ab2c-74d6-4e8d-a956-94b1e80bf520 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e0e3b35-468a-4d7e-8d1d-10ae5fa35424 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b34f16f-887f-4fb7-a2e7-c41c1446accb phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:779e37b9-1ac7-4dd9-8dad-2db923751a78 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9455b174-ae25-4a6e-862f-a5689ef13d56 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:662ecd47-78d4-4524-8969-63a12d321839 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9c761a8-2177-4635-8092-e69ddc1f973e phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79fe6e17-b35c-4cb1-ae13-09fb0327bdc3 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b89e546-8a9f-49a5-9cb9-fab82dc33759 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4cbda68-7299-4192-b4ea-2c4e522c1a86 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e84fef62-6c63-4b3d-bfde-4ec814ebb098 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b4c898e7-ce67-403d-bef3-0ea3ef4865db phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a80e7b77-c810-461e-a66e-22c27a0e65ad phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c960692d-9847-463b-9462-db75eb92983f phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6c280c5-a66b-4fbd-840f-7a42d48593fe phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd0a621a-3cea-44fc-832c-32938e780042 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5b94e77-e8ec-4e9b-89c3-a38d0e578b20 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbbd8e51-0b6a-4093-9cd5-1ab30a569be7 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c2c0ead-1fcc-46df-a63b-25071fd8b148 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1dc21a8-fe0e-4e45-80b8-77ad3586f17a phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:093c56fb-0697-42d3-a022-3efd7ea0ae69 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa81c306-ba79-4042-85e6-e8f964163bb5 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b80b60c2-f2de-4f60-ba7c-1e96b186b575 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52a2b921-1ce2-4980-b559-928c46428819 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48b92824-ab00-446f-85fc-d41be0b93e15 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f203d016-c02c-42ba-83e0-042da9d7fd49 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c329d05c-35fc-4b0a-b3b2-87272d760056 phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:5e79d082-d6bb-4e70-94de-c976b3e37fee phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:a1490dbe-e361-4190-a64c-e71679566721 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e53485d2-e633-4900-aa14-48992dec8e3c phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6a5e79c2-11ad-4e82-a019-693d85301fb1 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:caf4db80-0dc7-4086-8246-1a9c173807bd phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:21a596b4-02cc-49e0-a5a8-061ce1574a4a phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5bee5a35-e7ec-4f8d-a1d7-14550cf33eb1 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:49cda2ad-4687-4ea4-a2e9-790be71df86b phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3b778949-5c34-4203-92fd-69e474778281 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c8c54d92-f90e-4196-a677-aa267514012e phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:59e84d4a-6ba1-41ad-88bf-7fe751032692 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b659517f-2ad9-4753-b5c6-625866d65de0 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e605e288-0ad8-4d2f-a86c-3e8bddc2e0f0 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:19aeaf39-9b77-4816-8ef4-916f2d5c45e5 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a4043b55-d42d-4a00-9cee-00fb1fc5a871 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e942db4-d153-463c-820a-c9fc412a89c8 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8217e838-21a8-4c3a-8567-dc013c61e288 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a10d2f14-87b9-4cde-a37f-4e720fb8119a phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a2ec3f0-2e72-43f4-92f2-424332a641a7 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01899a15-49df-41d8-8d50-3ff1fb9e762e phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:441a5da7-e002-4032-9a9f-a191768502f5 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4febcb1a-6ba6-4caf-ac66-f326bd46b39e phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2083b01-0f7f-4a30-bcba-fa0ebb917403 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a6ac3415-55a6-4c0d-a81b-c6fb4e2576dc phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0fd9afc-b722-4c43-adfb-a7bda12301ce phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3ed01134-d9f7-40dc-b4d9-2f9774717ed0 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a338cc13-be95-42c3-95af-5b0647637638 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16fdc509-2d8b-4515-a4e8-a5e7022ac152 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4840d895-a2db-41ff-81f1-8a29da77386a phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:009df9de-45f8-454a-a8c2-add8ab216f24 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2327c86-7e82-490b-9271-f3304b4b6b38 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47e198af-bcdf-4f44-89fb-7e6908612229 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:300a5eec-e858-43dc-9eae-5f6456914fd8 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40426e2d-961a-4418-ac44-e174bf720899 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d97479cf-6be2-42de-892e-16c89dc1fbcb phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7aa83eb-b648-4dec-9282-ca5696ac9719 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b558b79e-31ed-47c9-9243-5caa6e84a780 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc808b80-3f65-4bd6-b9d1-7702185566ef phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c31aca90-10f1-4d27-96e2-0f7b2d46a7f0 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb2fe72c-c252-4ece-a9ee-c1a06acf3d8c phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c8500f0-6110-42d5-8f96-466968feebb4 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f597064-2741-47bc-bcac-4ff8bae042b6 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5927f34-c2b5-413c-93d3-f3e44b4402ed phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af7a485b-f48a-40fe-a9d8-0de7cc98ed3c phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1a94935-0ee8-41ca-9eba-6c430debd0ec phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d18c3355-e6d6-4dfa-b8aa-9ec29e515eb3 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5e8ce1c5-692f-43b5-98cd-9a242eef6082 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:404fb6fd-05bb-4c5a-ab55-b7520189d7fd phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bab27359-5040-4fa9-bac3-768c1c5a9466 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dade468a-326f-4b0b-937a-409f2d05a173 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0193af90-4ad1-414a-9959-268e9fd73b3d phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df1e0f5c-ae18-4141-a991-c0a2ee4bc384 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c51800b8-3fa1-46c4-a770-99f620712ff4 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2dbabf0b-e2f2-4a91-9c99-b41de0d2b58e phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a735ba0-6f87-4e33-94dc-a39f7711b363 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d235e88-14d3-407a-b32d-8e396a634e59 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb458392-16f6-45a0-9aa6-2821519fa650 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c64c9fb-af9e-4d60-a607-76a17474415a phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d566fbfa-0056-4821-a3e4-fc1fde76b849 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3711769c-8519-4c67-a32f-5d689ee51ad6 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4a611903-a79d-448d-a3fe-0427f948c3fb phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:73d74668-6be8-4f60-a4b2-9a7bb3293517 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15b5b6f8-a327-46db-9512-d809a502fa7b phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:941b9bbd-9570-4271-b978-71dfd221aab6 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57851f5e-ba92-4f45-94be-6b99d4bf482f phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e9690e9-3636-40e0-8b84-e7445ac77b0f phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87eb78d2-8ef9-4f54-93cb-a40162e4f3b9 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb4ac799-7d19-42c6-99c1-341a670a982e phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7624205f-fc5e-48b5-a738-ecb4744ffb1f phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d221e28-caaa-44fc-9af5-5cb755014103 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fcdd2f4b-9690-44a4-b3ef-4aaaefc7be24 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:825e43e4-f7b8-4972-b724-5ca6073a85fa phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9cf7ca06-22f9-464b-a5cc-2b2ce018fb97 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:deb4e3ee-7192-4d48-ad99-e1fe25db31f5 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b6febf0-a8c0-430f-a7f9-c21e670aab82 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82924212-60a2-4375-bc8a-6b1f5814cd6f phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64ea4ea3-8915-4c47-99d7-466a005e94f5 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a229d85b-9140-42ca-b079-fcaf105dfea7 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16ef9814-ef1c-460e-b5d7-d6caae155017 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5b80759-baf9-4e4d-ba48-b40a94c0fef5 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07818589-46ab-4e8a-abf0-ac886b8ac0bd phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1aeb976-5f66-4ce4-a55c-e1fe35b9f266 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6864c5be-0ecf-4be0-aba1-f456025e4f58 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c56be34f-302f-4f96-9b2c-af005f9912f5 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29fefe38-4b24-4235-8154-a92f6ed70fb9 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d245cc0-ac8c-4828-817c-d9dd1b495ddc phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:50aedb17-fe26-427c-83a9-c25dac44595f phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:804d85f2-f25a-4d25-9381-0633b076bd20 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d85d7e37-c5e8-4705-9f54-efeb94fe0be8 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:14d737ae-ba2c-4adb-a759-e5d90392860a phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:28c8d6fa-b337-4475-94ee-bdc8dcde4874 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:13a7835d-f40c-4f1a-8117-7014eca887bf phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:523a12d3-405b-41ee-bf6f-977999ed961c phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e42da51f-e205-4083-a0e0-4153a0e7a86d phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ff880a3-eb3f-4f28-acd9-8973051dc6f0 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69b3d7e3-5960-4cdd-8dc0-4a6bd7008a28 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:135a2d3e-8b7c-4ce3-a61a-5cbc1df13bcc phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62ff4b32-5896-4759-9cea-f5b47046308f phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a88f998f-d736-441d-8e57-472ccc4eed17 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a360a5a-819b-47c0-8527-4686e1033991 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3025dee1-defe-443f-aca1-85710c36c497 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82b45b5d-7686-4276-b9ed-7a1b0b90b355 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:807f2ad0-ed27-4e8f-b873-39bce9c515a3 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58d933ad-701d-44a7-acd7-ca50f73b28b8 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b4eecb8-9687-4531-96d0-adae2b8fbf04 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45198478-a298-4285-a0d5-166a5bfe6ffe phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c017b7f7-7f5e-4b1b-ba75-6a6124c884b3 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25256450-6466-4adb-b78d-846548a0054b phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:9db91af3-4881-44b4-9cce-8d1f0d5d8d18 phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:afb7031b-d730-4a54-ac14-1ae37f237bb4 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a8c65b6f-2dc2-4c36-b16a-64ecea00452c phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:35bef0c1-6e29-4ced-8606-d9c023ae00d1 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:782dc32e-9e92-401d-a28a-d5dbfb70ff73 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7f915fbb-d275-4914-9374-86eb3bdb7bc0 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2723ec6-343e-4337-9cbc-10e7b0c2c5d0 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8194098a-fa91-4033-8042-37864bdf5521 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e60a6341-c4c4-40a7-8672-c607f0bb6f02 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bf2edc3-a72a-413b-9c6c-f2ffebf545ce phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d2a3763-f28b-4df8-8d63-dec6a5472394 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae5bf136-a286-450a-a12e-8c71d366071c phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee5f27d8-d88b-4b0f-ac34-63d30d4d3004 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f8b26f5-6e45-44d5-9c5b-e7614eeaa69f phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5a9327f-2f21-416b-ab33-d6312e49e844 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:18d4e71b-7c99-44f8-a60b-7f2412897683 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b055fc01-d375-4d43-81ec-8ef390f61923 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c8001bd-cf11-401f-b8fc-e00433a64104 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e98ed4f-25aa-4624-9551-a00738a44218 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:05d08f36-b585-467a-8d96-a84af9088561 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b7ecf48e-7803-49b5-8f78-0b1119ce6f26 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52950161-3a5d-42cc-8138-5f750b07237e phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e92c976-58d4-4356-a1dd-aa6f10020187 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b000f22-ed8c-42cb-98ac-a6b43e1aa5b9 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62944d88-b5ab-4590-b84f-2244e912d662 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57ba9a77-40d2-4fed-8c4f-48a44d49ab35 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:13f9d200-2d9d-40dd-80fd-ee2c0765bd4f phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8378549d-bda9-47e0-9305-c69ff435c295 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eca5faf0-f788-4e25-be90-a70aa5c8bf2e phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe61011a-b57d-4a1f-9191-0d590c7e2635 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc9a33b4-f837-40c0-ab59-efce66926ec3 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f523571-a5b5-4e46-9991-8194d1fbed8c phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4ad53866-f643-4676-8db6-801d828c83c7 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30dd449e-7a19-4ae7-8afd-f218bd20bf09 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1770c0ca-9d09-4922-b90d-832cd972a0c2 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4fb589ed-0985-486a-85da-dede11cfd236 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:31a0bc26-de89-44de-a5d5-ede906c6b823 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c3e04ee-e275-47c2-a412-0843a710e5e3 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fd848c5-e94c-4d4c-b8c5-147f4a17baf9 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6daaef2-5e43-464a-b710-3736a64431e7 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a8360727-d037-4103-9f51-a8f462e2e378 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:287ecb59-0f9b-4e6c-90e0-97df463d27b6 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a03f5e3-1e6e-4dc5-8d84-e34b6c06fd16 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84aeffea-5f76-4026-91d5-50af96a6b4be phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49bda9bc-cd9e-4d68-937d-ebd6c4082ce7 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e799b82e-58fe-404b-b8a9-e9723fe8ce5c phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08defd87-2c66-4b19-863c-ce0abd1b71b3 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6499e8ac-4695-4d60-ac56-31a6ea8bd2df phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4d1a57d-2d8c-4fd4-997d-e65dc2eb5172 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ebaf1e1-43da-42e0-909f-78ea3199c197 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:feec011a-85ad-4e29-bae6-d27a368f9dfc phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7807bfbc-270d-4845-a1bf-4bc12883d311 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea8241c5-36dc-4e3e-aaff-1aa4002b6b9e phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ce5de6a-2411-44b7-b580-8f23a5f67a3c phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4da5f6f7-abf0-427a-9830-de4b401d852a phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20151205-95d6-4ea2-88c1-5147827e9795 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e12b79d6-e5ec-4061-83a8-08b0811b8543 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1b69a7d-91c6-4ab8-95fe-9fabe0b5a2c2 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30ec7d46-6044-4d64-9539-6e75e18d6c38 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef117502-44d8-4e6f-b239-394a1ee4f0c1 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d25f3fde-1538-4433-8d64-40faae1d6e88 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3cdae282-112b-4a5c-9c43-62c76abbcfb9 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d81c669b-2d1a-4625-8730-adc96d619e96 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:167fac05-3f8a-4ea4-8b5f-e3ed58e432ce phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3cde76dc-c980-482a-97a6-52751ec40c60 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ed460b5-4169-4643-8809-f2712155cc37 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:764b32e5-a5a8-40a9-ab07-ccdc0f2315cb phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa360513-699c-4cc1-b308-80d8e922f72b phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25acaba7-fe83-4ae9-9922-db5263f35a6a phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20b6d2fb-4186-419b-8fbc-e2e1a90069f8 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7c465e2-4c5d-4cfa-98a4-fa9bf1db38a0 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64e26d5f-1443-455c-af8c-4d941b38001a phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c8725427-7b1d-4a08-8523-331b5b54eff9 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ef17c7e-38c1-4579-89dd-38d8f5477046 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0363e3c-dd21-4dbe-837e-9c2da646a389 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b2686ff-51b8-49f8-91ec-797679c1960b phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7cb185d5-19eb-45bc-b1b2-123876d21506 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90a7241f-62db-416f-9437-949561f653a7 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5e4eaa01-074f-4f26-b1f8-8f1c631fbc33 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:18ab2a90-3b69-45e6-ab43-0137a7318253 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:077f181a-f17a-4c1f-b261-694abfcb322c phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d49ed880-32e4-4071-bbf3-76c168b27a0f phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d726dd0-8a17-48ef-b489-2be09565c3d7 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0eeb8401-881b-4128-a1fa-fe4b0e7c9209 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a6cdc2d0-3201-4a4c-b917-a7adb59b0e43 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8125b9b-996d-4692-b7d8-48b3b102bb42 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17fc5d76-5c3f-4649-a082-9ac99f13cf78 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a67f286-2bce-42e8-816c-7609bd0b6fa2 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c56c52e-844f-4e1d-9127-fbd1a183f373 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:996329be-fce0-4e0d-8437-121f0a5192e6 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef47c0ba-da80-4ea1-b12b-0a96c778b5d6 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ee7d25b-c199-425e-9b03-c48e3e7d40de phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6f9fd08-cafa-4028-9e5e-2f13f9386acc phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04f1ad23-d313-4905-a758-9fe08054ffd1 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d56841e9-4ce8-475e-ad78-bc9039912d5b phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21eb1b06-e116-4bb9-a53d-52b7ce9e1af1 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:401d445e-99e7-4cca-bdd4-77dab2285cb3 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3e6e9c7-8a7f-45a8-932e-32e86d543920 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71518e93-69e7-4591-9c0d-209be13df8af phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ede698f-6661-46e9-9e1a-e305d19f00bc phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d95f81d-25a3-4a53-a42f-e0d1fa205d48 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b6f9867-f93f-40eb-ac61-5daf017dad9b phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88e7ad6a-dfe5-4b7f-b168-3f4202a6c348 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c907d8d9-cdd6-4e4f-97ff-0051dc42a2e6 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1184593-f76a-4859-83b1-29c24c5aee6d phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2cd93df2-2777-4201-b36a-e9fe547f1558 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b289ec2b-e09b-4649-a2d9-6e8dab9e9c5d phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:51b9c83a-042e-4cf5-9bd0-7821b14edfa3 phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:f639ba33-0566-488d-972b-6288990ec9d4 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2d4c1bc1-8dcf-4fb5-a7a8-4188ecd7dab7 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ab6fed90-4fdc-4089-9113-922d8787c94b phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:78394203-b7a1-405c-9719-b7a7b2a1171f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:95e5e539-fbf0-4278-b918-6895b0cd314d phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e8f1520b-e644-45f3-ba8a-c73729237387 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:886b4d4f-e5ea-4baa-b7ca-0c7feaa7ff0b phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b30b14ec-72af-4c8a-9768-4147ffd7d365 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b52af2eb-53a6-4e11-ac3c-e77a7ae04f57 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b9d9a02c-6bae-4528-9606-5c35dfbda6a7 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5bef7d39-fb0b-46b3-b330-fb44cb6f05e1 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49f6cd48-6f1e-4740-9970-02b5e72a9602 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83d67a40-c5a1-4a36-bbff-ae307b714eba phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad651cad-6b2a-4991-be0d-cd54f7b6cb42 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1de98d4a-aada-4f24-978e-722b625da4f5 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b69b227-767e-437a-a03d-12e64fb0d6d8 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c1dcc86-047c-430e-a5c2-c4a925784596 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aea394f9-19d5-457d-b67c-9f4e7160c3f3 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbcbbc2c-5613-4941-b013-8efc0803cd47 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17f6166c-7903-4270-82b8-cff0a8790018 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7451a2c0-0168-482e-89da-bd62e93b2df1 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1cd76e43-32b7-4f04-bb54-1b6cf458d20b phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83e4db46-c3d5-40ac-9fc9-c54f816cc783 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94a67934-a1c6-4dbe-a296-5328a300c4c7 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:742fddea-6b71-4b8b-bfe7-bf3612429cb4 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6eb8c58c-6ea8-42fc-991f-dba55b40ca0c phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c024a2d-7e52-45e9-8748-ac25d6fa8a73 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ffac24ce-1a2c-40d5-aa73-bad814b4167f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3a5b98c-820c-4717-bf97-afd3f9a82f36 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf79e62d-04dc-4228-b098-1098ed4edab3 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96d2843e-fd2a-4e18-84b4-810c1ad740d2 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc229f35-877a-4b91-a271-a93f629cbe65 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7656c6f7-c20d-4a89-96ee-1f85c4f7f07d phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de937ff6-6d20-4caf-ac65-74b42d108d70 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf2404c0-2ab9-41f8-8e87-e0bad21f5a60 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87021c16-4afd-4780-8331-1d5d69892957 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1aa2605f-f56f-40c8-899d-f26132e20da9 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a99e19b9-f543-4641-aa74-d5569881aaf5 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48058e14-6b60-4f83-a887-386231f82576 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86cc0270-53a9-4a54-bb06-1ec9bb1a4e87 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af2701f7-b2a7-4d50-ae70-9a8c66aa88bd phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29af8aa0-88a5-4944-8fbb-3ea7317bf03e phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:621f285b-85ea-4c93-ae65-33d154da7e87 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12a623e7-7e56-45e6-9b57-1f9a52e5047f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:762bfb7f-139b-4323-93a2-ad05b1446313 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:852efd52-24c7-4fe3-a132-83ed1cecb4c0 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c57efe0a-a1fc-4e3c-ba85-14052b3d678e phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93ebe0a1-7994-4024-b4e6-b98bfde41d55 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:941939ab-7573-4373-adeb-5a61dc8d1f44 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:586b3222-de1a-412e-8613-c0f1f7215cb7 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c233ad7-755d-4597-93a1-d51eae93325c phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76a703a7-c7fd-4d55-9759-d3f32a0ce13c phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:364712df-194d-4686-bebf-7001afd27ced phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:591e8f90-b4fe-4941-9753-c7b596d00d54 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:585bbcc1-5347-497b-b568-8571be54d5ee phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a131a20-cba5-459c-a32a-82fbe91049d4 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:525205d1-5844-4ed2-9ccf-348729f6b42b phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abfe71e9-f49f-455e-a40f-f35fd1effbee phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95cac4a3-4e98-4cb8-bdc1-289fd6764076 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ac7334c8-f9b4-4d54-9795-f89da6844ba6 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86024c59-a249-4714-94d7-ebbb97f0367a phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:19b58c76-88db-4199-a332-ee7bdd223e05 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08ca87c6-ef40-48c8-9753-ca0c32679d1f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6781e899-caf6-4351-9e3f-24faa9787a1c phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e2204c7-3aa3-49f7-a5b3-13b4739d3559 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:610f2d3b-2cfc-44e1-a253-df1b95d6183f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:42cc5b0e-29a2-4b22-a7b2-e812be452c34 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0d9d09a-732a-4adb-8539-077b37aea744 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf1f0eb3-ebf0-4ab3-9a8b-778002ba9d5e phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e4af8ce-28ee-42b3-85a8-22560d5450a3 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:217a5333-5b79-4149-9759-740306c26249 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f10a217e-6498-4e38-a0d3-2caeffd8479a phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f26a43c1-b7c7-4770-b72a-0037ff666db1 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bda3a988-8dff-491a-a40a-e309d4c4cdcb phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b5770e7-bfe7-4327-8b06-cc450052ca3d phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6544cdc7-2b04-4802-a480-845e9fde5364 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5c22b80-9fe7-4ac3-b942-344d47dbb4b7 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a086a3ff-f365-49f7-86e7-1a035d1ea894 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d768775-ceb5-455f-8acf-9173d40af619 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1781dbba-7d43-4199-ba2b-6de85d9dda3a phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3fbf6552-0a75-475a-ba52-db4d4b5bde43 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b789bdb-0873-4d1a-9661-f93320e3540a phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01b4ce91-ea97-40e3-a1cd-59d49f4a35fc phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53da43f1-0563-4a7f-9851-543e4440e2d2 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5569499f-6c08-4754-ac89-59a59866eae2 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35057e1e-144a-4cbe-bb8b-613e0571a442 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:388b8629-f407-4516-a612-7ab82efcd54f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae1520ed-588f-430b-b08a-74466a2555c4 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80447540-421c-4436-9af3-d3321751cc72 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a25dcf2-6ba3-4fcd-865d-4dd3d620d571 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fef67e62-57bf-420f-8e68-88a7a85338bc phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e943099d-401d-42dc-a6e8-fb260152bac9 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9e99bee7-ea0a-4dc2-9349-44c2936a080b phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f79335a-9683-46d7-a769-9301f85445c9 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76d5a189-48a9-4af2-accc-75b9a5ef3fde phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbb0efc2-6a95-4436-af8a-62e0f0a6999f phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8721d594-369f-45fd-94e8-4c993a6aa981 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b17651d-2fad-4bae-8ed1-daf042972db7 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad7e8d24-8c02-4674-91e7-f00dd41cf50c phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20e31089-4bb5-42a6-90da-f090a89757aa phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a76009cd-b341-4b6c-a261-ff9bbb166ab2 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23a37240-fd04-4b63-b195-791b2f5e1d80 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f91aec87-52b2-4654-b85c-d500235d8d3d phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fdf4579c-0f0a-417e-be97-2bb99c97d01c phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3009087b-a300-4504-ac1d-4a76a9cd15c0 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:720a380f-88ee-447d-930d-2e4cf3ea3ab5 phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:655ac4c7-b3f9-414f-99f2-621f61cbbdeb phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a4887ca2-87c4-47b7-b65b-46d462592e0b phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:49dbf7a6-314e-427a-974f-ab6abcb276eb phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:45a99a80-8cb3-490a-a49b-214d056df5de phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c73550c0-5691-44bb-bd42-211317741667 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b2dc28a4-fa02-4472-b338-6d74ebd42697 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:946be00a-8955-40f2-aedf-bcc993da3fbd phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ff29f60-c18e-4d10-987f-03602f00c3bd phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3dbb2e43-9acb-4535-a5ba-e19b39866036 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a72dae6-53ab-4402-80da-e4e14034cb0b phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f77e4c5-bef9-488e-8428-36cdba4569d4 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d11cf78c-febc-4e35-a009-872d3afb12eb phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c68e774-baf8-414b-bfc4-f926a1e255d3 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80868a02-f6f6-413f-8371-4f56e8a8c627 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d812ca2-bfe2-48af-9d62-d29e8c06beec phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce381b56-8a17-46e3-af31-d81a5390592f phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b6c897fd-613b-439e-800f-6c956d4c00e6 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53702329-cfdf-4a48-8923-9c2c76c4702b phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3696053-ab55-4ec4-b5e5-6f1d91892194 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47fa1c6b-35cc-47c8-ac22-d1169f8a752f phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb4790ac-8037-49a8-b84b-d64276bdaf63 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cbabb7f-02c2-4a64-af9c-5c5860d9f1fe phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:318559fd-eb8a-476d-abbd-ddf3cc579c2c phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f143607d-4b41-408b-9f06-5257525be894 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ec3c0c7-bee9-4dd6-9cca-f14b44d1597c phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8fc6520-89fd-4791-a050-6699afd990b1 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9ddfc55-6f47-4c02-bbab-c893259b9309 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:739ef729-c0a6-4be5-aa37-9000d2fe2bd9 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9646731-2662-4829-bf2b-972edb02f2f9 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5d31649-a454-48ad-964e-83efe7bb13b1 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64d7a7b2-9566-4cf5-b40c-684dc8453a72 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b000f8a-bb25-4cb4-b058-28ba5bb0e7f3 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb834516-8a5d-4cda-aa07-6e6fc5bc275b phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a45caf2-1831-456e-883e-835df1eabee6 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6caf145-3d9d-4224-a85d-4f0ca6090eff phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:867a6bff-eef3-44b7-a5b6-2aee3c86e556 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:923abc26-ee6b-42b4-8d40-f1c82de9e776 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c3760b3-60b7-47f0-b08e-f3967eb46dd5 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5718d7ac-55b8-4155-baea-7c54de6f4403 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a948a86-3b56-4c4a-9173-6ba8786382ab phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ceaf37f9-57b8-4be3-b985-160d747294f7 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:28da8afd-5434-4fcb-b8a3-1a8f9d5aaa90 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7ed287f-0245-4e71-bae8-1964403d1571 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:122a0203-b61d-4940-86c6-b612930edbe0 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fb39f10c-00e0-4f14-a60f-8b2e9f9c4c0f phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b016b10a-5964-4fcc-acaf-eae34f5f36d9 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:239255ff-8796-4db1-9ee2-7b5cd08120b4 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7519e6d-2c1d-445e-8dcc-5c09ab47ed41 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39dd6acb-0610-40f3-be1a-8bce84b91d5c phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b167012c-2a94-4f45-a983-a5acfa56417d phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af34a699-24e2-4bc5-bdfe-d1fc958b8e10 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a90e18d-4031-46dc-a89a-c0be69cb36ba phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:32da8bf9-96cf-435b-84c4-bad96577f400 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bcb288b3-4a58-46e2-a95d-5bf7d229af15 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0803cd5-1426-4c02-aac1-a1761b5b766c phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c0acf01-4e70-4e54-8641-fef519fa95a1 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c3f3aae-21a0-4de1-a8bd-7deda91b01d9 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:178d0d26-e607-49b7-aead-ac0815e9189d phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7f93651-4a35-44db-9056-72be1a7e7b3a phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5160179-bb09-4205-9d83-863524beb75b phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d4e6611-9c9c-44f9-816a-109b6f1f78be phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86769e7a-723d-4f99-869f-a13ba9349c81 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:227536e4-8427-4679-ac19-ce00c293755a phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a8aeb7d8-89b5-4dc5-8c7a-5a16b5229c1d phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:489ba479-b382-4369-bc04-d25cb71dc296 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e5326a41-23c8-4fd5-b91b-79cb41004330 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4518ee0-e546-4637-a8ae-c3914932de71 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f432203-278a-4708-b5e8-fb9e88343a7a phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c3c3c39a-b911-4b99-8d84-08d18c369594 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fbccb9df-203e-46ba-bb81-6baa64316e90 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39cc42d6-936a-427e-b9f8-0dd3de0fb48e phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e5bbd83-f2bd-4f4b-b155-7a2b27e564de phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f1aedc3c-8ace-44c7-b98c-2201826605a5 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:490ec0dd-f4ca-4dec-b6b9-c151665f9f27 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15779d83-c8ea-49c2-b6ce-db0a8db0ac35 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:233fbb7e-ca94-41fe-888c-aaa06da93988 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec5b52a2-0ef6-4abd-86ce-a86f2885571a phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b1f1ffd-94f1-476c-a64f-b488f054e4eb phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b78cb905-43ac-404b-bbc9-4fcc6de1caed phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b7fa23c1-434b-4b21-a81e-07761931c9ef phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de18fc06-5c46-4868-8aa8-92e12df2162d phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94d4dde9-f1dc-4fee-b564-b8efe5eb5b15 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65ac3bd2-9631-4969-aafc-3a201d3eec39 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b55ca127-4117-4079-bad9-7c3d66b8746f phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:634fca28-a4cd-4a02-b70e-ca89c6bf86b1 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0e5cc54-0643-48fc-a55a-dca9f1360c2d phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2939f536-0cfc-4969-acd5-c53c36f2fa97 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab7756c4-83f8-405c-9476-5a3d325a4d6d phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3751a7d9-f9d9-4cb2-b5ac-601ad45d5cc4 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e657e428-2095-441e-8b21-6f7775324f8a phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37c80613-e96d-4475-94e9-ed8aea40da0c phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb4ce219-dd42-4e45-95cb-593d837f2061 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d9156b7-48fc-4106-a18d-b44762969000 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ddcdf791-98a4-4ff2-a09b-6535ba039075 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:494de0ca-7c07-4871-9674-bbf58d428622 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:2ecdbe72-c24e-4b4c-a5cc-c67f49a50591 phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:a3ef603f-5baf-4d79-92d2-343e3b062eb3 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dc630669-1c7c-4a48-9401-03e2e99bccf7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:24eee849-1daf-4157-9f83-befca4db6dba phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:05c339cb-2a6b-4b1d-bb90-4698f5daccc0 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6bf16779-8162-494b-9569-5ae103b051c7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:61e99a32-ece9-485d-b43d-81c346eadb62 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:844cac9d-bc39-4521-9e76-63894b572932 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ad00a5c8-81ad-4953-b212-7484708d0dd5 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:654c4763-ea5e-43a6-b95b-f945fac34a1e phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:96624e4a-65d3-4f2b-91aa-acf02d956e1e phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b4cbb1e2-f87d-45d6-8993-4975e061930a phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b25c9718-d662-44f5-9ff8-491d01a694f4 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f1d918a2-a32c-49a3-a44a-0a355db5d344 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d2559e55-776f-4db6-9c71-1ed5bb7b44c1 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:030d66cb-dce4-426d-a5de-614782dc4c00 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53c0d702-2c60-4b28-8d3f-7a5335f2b022 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:838a44f8-83d9-4860-a307-f4f8f9843c92 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fe12484-2df9-4163-8b6e-4003a921b9f7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c43d519-cf4e-4f68-bab9-38b41a07e255 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4aec2a8c-7cbd-4dd8-a9f6-8373fe80a3f1 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0fd4a8b9-13ce-41a9-b637-64a34f905d82 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71dd2055-d6e0-4b51-95f2-936c89438bf7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:718d05f4-1003-4e1e-8ef2-ba6d1db06662 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d3e14973-bdb4-448e-bc59-ed8951a2e641 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9bdd86c7-93d2-4600-b8e5-56e9b34337d0 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d3d613f-4cbe-4b2a-8b68-f5437cbbd65f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc250342-c8fd-4252-b53d-8fe2959bf5c2 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:507cec1d-d457-4ce8-b43a-e5eadde000cb phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3511c593-ea36-4967-b069-cdadac7f5433 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb4e8168-76e3-4a2f-bca9-19fa64307206 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9be801fa-8e1b-46ca-b38e-f2e1f7294cba phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:055a6dbe-f522-4864-aff9-91dc4726528c phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39f8f9e9-57f3-4292-9909-ae1ee7669b5e phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce7af6e1-235d-4364-b0c4-b96a8e1fcc05 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9393fdc0-29af-4f75-9c08-e7fd0b2e2b7d phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a6c8329-d463-4075-8136-680e64063b0b phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab502bea-abe6-4a11-83c8-51f8506d5c0d phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:056f860b-307c-489d-b7f8-c392e61eb518 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:317e26f3-d598-4755-b4a3-f8129114b603 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c07e44f-9029-4aee-ad2a-a3337f762406 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd586e69-e02f-43fc-8377-55bca70fdf3a phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83134239-9b74-4f6a-b33d-e5a8f714ca84 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea528de3-fbec-435f-ae89-36d9c4e68007 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8e9585b-722e-41d2-8183-69bf24f43266 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66ac39a6-9466-47ee-b664-8814c16ea9ec phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed061b4b-1455-422e-9e42-68f52d0b4c42 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c26a4a77-fd4b-4c2e-afe8-6f429867e7b4 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:704e943d-0719-4c40-91df-af27ab57ef81 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:153058a9-137f-4d60-baf9-e9278d6c1e35 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3d44633-819d-48b8-b0f1-a0fce8351bb6 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c42dad7-2cb9-4c88-8826-b456bd523f9a phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:137ef696-aefd-406a-aece-d6f5a654cd35 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b617817a-6f6a-42a4-9509-309936a6a17f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6cdfa7d8-3ab3-4af9-a74e-772a0db73764 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58769650-af1a-4783-bc0c-48970c4cd0a6 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c29afa2d-b39c-4a95-b89f-62e3858fc714 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9d836f0-afb6-4099-9093-08cba205648f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2ad76759-b058-4f5a-a773-e2baa90ddd50 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:19aa3628-6fec-4654-ac0e-bcb93734e388 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb41d52d-afdb-4354-8141-e22696f3fcd1 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a097c2a7-6315-4ace-8541-95567d788fc3 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d93a6db-2ce4-4f90-b17a-f2d1b241391f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a1bb01a-9ed0-46fb-b447-90a969f3f67b phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0c1ddb7-f0bc-4914-a3ee-5ec50102ce06 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c8e52f4a-1bf8-4953-8cb7-79b3b57ba8fa phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3635d5a-a87c-448e-8224-1362c5120654 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96ce9b7a-fe75-4d3c-a835-f085971905f4 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69fcfd1e-7219-4dc5-ba0c-ce399c60db0f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e15c730c-0e79-497f-b252-e5527f096022 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d0ddd78-6fcd-4ce7-bc2f-02094f39a967 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98710238-21bf-4211-a4ea-732de883e61c phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e07275e0-da40-410a-a680-9d71462dbef2 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc0095eb-d3b7-498c-a6aa-6caec4d08996 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fb4609bd-add5-4973-a9b3-c36a756fb7b1 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:22d5c757-4b6d-41c1-8764-9fbc896c5a3d phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99e2e0cc-2ed4-426e-a750-434f9a96b971 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c8293e5-630f-4108-8219-782d4a3fdd01 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f54e7755-cfdc-4a91-a29a-50965d9ffad9 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d92f0772-3bbc-4990-94cf-a6f5c1c9befa phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c7163cd-6777-4d66-858a-c24ff6a47bf7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7fcd3cd-6f27-4cec-89a9-b22a565d9dcf phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9601cb64-b5c3-4790-88d8-bae78df4f82f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:adf55850-dc85-4264-8c97-f6729def4ac7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9278abd4-3a64-4b9e-963b-f1d82f025aa6 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5066b301-4616-4849-8ddc-51425c272d7a phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f23a8d0-ebe0-4e24-9346-1ccb1bbce169 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7f97154-f25b-42e6-8e95-06aa2927b72c phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c9b1f47-b6ba-4949-89d5-6b359cd616e4 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d85dfed0-1281-40ef-bfae-6da8d8c3eb9b phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8cfa0082-6cda-4bc6-89a4-a2f5ca892a54 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9804b67-eb06-4859-b89a-a74e4d31038f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88efcdfc-9335-4a9b-8089-c594858fe7a3 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b082f3d2-7079-4b99-a24f-1b5c7e47744f phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25c95849-b9df-4f15-b3c7-2bac7b60da88 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:889dba30-3de6-4a1c-a5f6-a49d4a6b0d67 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd6708cd-2d20-4a6c-a908-ab026b332b0a phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c46f8ffb-b527-4a28-a8a7-adba450410ea phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be1bf61c-19bd-4e70-b2de-b391358fb7e7 phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eeaeefe9-0b30-4b20-bc64-4241442a9d8c phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21342adf-b31f-4b03-9c50-0907833c2f7e phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:81283a62-97fb-4b4c-a303-f21fba07000e phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:b26b9197-f285-4e68-923c-7e605cd0224f phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a7051c24-3b71-45ca-ad92-e2b787976e94 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3ae7f107-4b56-431e-9261-d28f00822277 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:be5ca649-e68f-4e26-933e-5d86e2752290 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:29e89eb8-e774-498e-910e-ae9a899cba06 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a9f92453-4cf1-44c6-a592-1a3b1c631e5b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0d270e75-1492-40a8-95d0-14785a33d062 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d945fee9-4202-454b-b67f-ec391e28c0a4 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f9e16775-50d4-4d9e-834b-d8e5a2d52d15 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2af3545e-a5af-4801-a135-09a332d68649 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:894e48cb-0ccd-4336-8460-a38daf21e3f1 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:60d90702-7ba5-47de-bfd3-0d520e4cd9e8 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:31df8c58-aed6-4de1-a67f-4b9f259f4f62 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf79053a-c5c0-4b8a-9973-8e4617d3f393 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea354038-988e-426f-a87d-2f12883bc484 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f00502f1-db53-43f5-b4a0-28968b748165 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed85b64c-2928-42ce-aaec-f81125f5e883 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1990e7f2-171e-48a8-9a6f-d65e74a1b802 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02aefd3a-8418-4ead-95a8-c86e164341f2 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92c47aa0-a302-46b7-b2c7-dbf28405a649 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1cb08d67-4fcd-4e3e-9001-259eb2fdfa1c phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd7787ed-1306-4682-9a08-7defe1f248b3 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b42f864a-ee61-4b33-98a0-524aa661bc99 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33a158f8-b563-484e-85ee-8986b51db355 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0df53801-d077-4623-9a73-3ab0bc245949 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b76f7e2b-dd7d-428f-aa9e-4c3846558f62 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f23a798a-231b-430a-8d32-ecbff9a396ff phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cee9f4bf-800c-4641-822a-40106687cdd7 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b46cb0f4-29c2-4968-8d81-b09355160332 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c4fbe83-333c-4065-8dfe-10cf6e9bcf52 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4d8c6880-d23a-4854-a76e-4d165bd71c02 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ada0fec-4f0b-4028-9eed-e9f254875ce6 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:520e5e02-ad5e-45c3-b6ef-4eb3cea6e971 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57458c04-8901-402a-bf51-6db3cd40b2c4 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a4d3624-a46a-4974-b69c-550bf6aef29d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd0deaae-f3ff-4ec8-b497-35cf4181b1b1 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85f7b30a-8ad9-42d8-bcdd-b60db7725543 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87d02516-3b25-4763-b258-e02da516bdab phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23763d4b-365a-4b70-adfb-9417394f22f3 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38d29e04-84b7-44d1-a051-207e849e9107 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9ffeaf2-ccac-4d55-b5fb-d84cc91e323e phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:655a5d1a-8550-43c8-a148-95f449b854a3 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a284b73-7d8e-42af-ab65-e3028eaf22e1 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6219d66b-af3f-4d7c-8dc0-77f14a84e226 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb31444c-263e-4041-8b41-f5233803bcfc phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3af5357b-457c-4e1c-b200-d449be08738e phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f26f6dea-ecdb-483d-bee1-74e61de7f856 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec0c9b9c-2307-43f1-8d66-5d063a036793 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:681db50b-eabd-48c5-b00a-36ba11729a7d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de37acad-685a-4ce0-a09c-b563b46717b7 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00d15328-244d-47f0-be63-4e6e6320354d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5d07700-1bda-4a9c-b1ea-5d8c650a6fd9 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0619781e-7b8a-43fd-8aae-3872c1535fe1 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9bb7684e-e102-42a5-9c09-c03fb0370a60 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8bac103-6df8-40c9-a942-afc53b08305a phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca09e96b-1534-454b-9195-a9e8dd4c45e2 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db262e23-0609-4f1e-9421-f00c47efd613 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee7eadbc-9701-4f92-b7b7-9db9b67ea30f phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e012cc7f-8204-4148-80fa-152e5234ed6a phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a96051a4-7113-4668-a202-ee0a424867e8 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17157400-ffe1-498f-ab9c-1a3ac831afc4 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a840ad6c-531e-4c50-9ece-f761a5ad115e phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79b647e1-0a1c-4943-8497-848c3323f273 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02187488-24c5-40f8-9dae-3ac0a49bdbae phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee1989e7-74d1-4b1b-a2c9-e416007a2ff0 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df1a1021-3ad1-493d-ae45-e2d5bbe05370 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:255a5c75-22a8-43d3-89b8-bc6367dd398e phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00113ce6-e396-4a0b-bca0-01ad71e323f7 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:342665b3-89e1-46e9-9375-15fbbfc305c4 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:140d1ecf-ad18-4402-9cb2-45528b0e49b7 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4907aed4-8f47-4154-b17a-def08c70a790 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d7ff701-06b7-42f3-80e1-566095247afe phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c4778e99-468d-4da9-beab-e7e04dd2b25b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26525ae7-374d-4094-964b-db285419f010 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9fd314d6-7c09-4ca7-97d3-74b18406b96f phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:159dd4a4-9fe9-4634-86be-d710e44f996e phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:affdae88-6e63-4f42-b72a-66623e597508 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08bec75e-6003-40e6-884d-216396f4942d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1695dc40-1c61-4f82-b620-278a7baed70d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f39818d-715e-41c1-9dbc-54aa0244b82b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09c26257-4547-49eb-a7e8-27a849a4bfef phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee24d7a0-cccf-4dee-9952-87fe1c070061 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:13b30e8c-0e83-49eb-a23e-e43a24943808 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2682bc50-0827-4d77-a834-8ebaf04e1523 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c087b51e-42da-4938-af3d-6e10b102513b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c88634d2-d258-46f2-9186-d0e0da1dcfd9 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba5040db-49c4-44e6-8e53-5afd3c4b5af1 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ead48f4-d91a-427b-95c0-83a3bb3e0ddc phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:05acad3b-01a7-4515-b208-85d96f9190d3 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f1730fc-180f-4e1c-875d-5b2bf6160689 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61945a0d-89e9-4deb-b320-249510265917 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:086335be-5520-4228-ba0f-ff01de97ac73 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f99ebdab-bec8-44ef-9dd9-d9667dd7abc6 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f530d53e-f843-4733-a575-0699e5d0b3a7 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8823b0be-c24b-4d04-8069-133adc3eaaac phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e593f7e-6db1-4916-bf49-dd1f176cae28 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd2f3a1e-b7fd-4fa1-844f-ef0609384b9b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfeed174-233b-437a-993a-773ab1600d6b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5afd7c8a-3e73-45be-a648-2052512803f3 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11a25667-d93b-4402-bf0d-909ed3b84d82 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c7e05ce-deb3-4b52-87c8-70b9434dd8a2 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:031cb8f0-0060-4d12-9fb9-0687c92239ab phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3bab4bef-1a8b-47db-9f89-8d63b2cf556d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fb5c0e29-96c1-4cf8-9915-127e719ac040 phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e88dcff5-2fa1-49d4-b707-67c72fdc5cca phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d20a4f04-e504-40f6-a743-e27566038fbc phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1e09f24c-7f46-40a6-978f-7e4e2f795d2b phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:707469c8-6922-4c36-81d2-941db1d5cc9d phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:916f6d7c-57d9-42f7-9a4a-be33644aa86d phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8349df16-3e5a-4b18-9d99-aca67f370dde phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b89fa4b8-d7d2-426d-aaaa-41d406d6caee phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fd459ec5-edea-4e2a-b668-c139323a65dc phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:912b93df-64ae-4004-b989-b36caa52ca3a phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a01ae05d-3938-4c7e-a2e1-b715d5262856 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:195bdab3-d7ed-43d1-a40a-38f75ffb38a9 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4be59331-2c98-423a-bd1b-278ab6223c1a phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:36449991-a207-4a5a-87d7-f5ee02fe12f0 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0f2c64fa-177b-4158-ae98-31dbcc6756b7 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d9974fd6-6689-4a82-bd22-e6148a5e8723 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:571e516a-a0b7-4908-b541-bd8f76557f90 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64969c1d-95cc-41f3-987a-e0e3aabd6cd0 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c755f220-a3d7-4c2b-b5aa-6808e9f3649c phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fdc0e42e-350b-412d-86b3-880268b95e76 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d884b335-fd54-438b-bbde-58c69624708a phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9579ac2e-0818-4bc3-90ae-40ac072dc173 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87ba1362-be02-4f52-9a41-b92605220181 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6598249e-e30d-41f2-a39e-2131bd6be9d5 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95e9841f-9e85-43f7-82c7-f96b4a798df9 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b93996f1-80a3-4267-985e-ddfd87e88a17 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09a74143-328e-4770-be89-ce7ad2dba691 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e27ca81c-03ce-401f-b4c1-e677324e8e2c phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79f56d18-618a-46fc-8a33-54e6831bdefb phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f22f596b-e779-44fd-849a-8dfc63b3ece5 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5940c5b-03b8-4810-9065-9ccbafcec084 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0966a587-7e5a-4159-9b98-acf3ccd0a5a3 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e4f991a-06a1-4c25-986f-78e9c71d5063 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56fab55c-5133-49cb-aa62-64de759d0518 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45dbdeea-b9af-4ce2-81ea-b1b329a294d7 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ec852ca-2629-40a8-ae44-b1f455e1ecdb phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4f9e27d-4182-4533-979a-f2b0930b6df4 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:13d834a4-6937-4365-bad5-2e8da6d87940 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1811198-b222-45b5-8479-4f30890f7e7f phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d8078ace-de2a-4c98-8e49-6a1a3d0d2195 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc8f863f-9600-4ef2-b7bf-bbb6b0d3acf5 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c8e10f2f-f48e-488c-b54c-1ad9375cdc3e phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc792a09-6183-433c-ac7f-90562d612be4 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfdad4a4-bc65-4b49-882f-15587dd46118 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e16ff464-683e-41df-a9b8-d2f9707036f0 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98fd4271-13a4-41b5-a37b-6b8bed5f4b0d phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d6048d9-c751-4efe-bad0-d0d8bd08c991 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5168d491-fad8-45cb-af5f-af6b145d08e9 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:789878d5-5a30-4d48-b77e-b77b74c031b7 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87f84ce4-9dee-476a-81f0-8e35f9513a60 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33b6a811-f5e8-4ed1-9cd2-b4bf64ad67a8 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:568e0d12-f542-4749-a3f7-2fb3d48dae1f phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2266e9e0-6ebf-46a5-ae55-a01dd6d41e9d phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c62acfec-bf4d-4db1-b0af-1bd30e43810c phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6bbbcf7e-5518-4c3c-9426-51897de14fe9 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0b4e0a9-2368-4af5-9b7a-e003f0fa86f0 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:208c270f-b797-49ec-a7a5-eb11954d353e phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:065e22af-75f5-4393-b216-d1c9a7cc6906 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e592af95-2ec5-43a3-94b1-dfedb138d45d phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30fe2dfb-1b3b-4cc9-9c72-bf24b5dcb5ab phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37b9f6b3-cb94-4be4-8876-9fea846e3561 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c10a750-334d-4ec1-aaa7-d23bba026939 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b0fee24-0eb0-48c2-b78d-79f1d48bdde7 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ef121b3-3b21-47f3-a47d-4aaf911f9b4a phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:42768b26-a171-446c-9d77-966466c1b469 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f27d3a0-6d32-4dde-9515-77468924cc8f phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29c1290f-deeb-43a7-a134-0bd5f60c50cc phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a35631e0-3e3b-4521-8223-33013de7d17b phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94e9a96e-e895-442d-a828-4572f35ac0d5 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d1e60c9-635f-45a1-bc45-c048c98c1fd2 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5313a40c-2a35-497f-b54a-879a2214c9fb phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e099183-7dc9-4a8e-b305-c113d7226bb6 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c158f61-7a39-4187-b207-5322c1b2b105 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b1fe4854-d461-4c23-b56a-61aaecba4a27 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c15cc0f-1ea6-4c65-9543-97319259fca5 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7a3160b-72b5-4e4e-8af3-843be9aeca31 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4666eb5a-a47c-40bc-9ee7-0301e7cb7ac5 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d505fe97-fa0e-422a-9888-db073902023a phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8fb45b7-b9cc-4f6e-ae97-f955a2c1e013 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c9ef50b-4e58-4c7e-9bb1-9e3700e16c50 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb29134d-6ea9-4a58-88aa-7a030a1a297a phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11c477e6-a7fa-4d1f-8f79-6a296f276733 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2644da42-6f72-4378-9217-323ad90e96df phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c2d8570-25ff-4342-aafc-5057af2eb06b phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eab8ec02-da33-428d-ad1a-96be7ec9bb7e phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2da6a6fe-3008-49fc-beb8-655a369639dd phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f1b32f60-e9bd-4e2c-9ac9-3a4e2bb1a9bf phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29255a0f-443a-45f7-a628-736c5deeee37 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:500b8c6b-4eee-4ae7-9ef4-d89495fc2572 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd3b2409-9ee7-4aa3-a41e-1900c9553a6c phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7afaf618-64ca-4b8a-b828-59ae513bfb11 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1396065c-7dce-40c8-aae1-605aadefb548 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a61ca1e3-45df-4ece-ba67-f7681af09eab phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a2d26388-a639-4eae-a1a4-de9d3e468ce6 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36d1760b-7ec9-43f7-9396-6db3f838b741 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23c4c8ed-6fd7-4c2a-89c4-678e55947e29 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a228febb-69c4-4587-94bc-fd6ac0aa7ea8 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2b122ca-7c31-450e-b073-44b28eb2b108 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9eb7559d-d9f9-405b-9ccc-74dd73a457d0 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd9e3bae-8d71-46df-9081-7095a92121ed phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f123b225-d8ea-4bf2-be43-6de6e6d51bf1 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:823db16e-d755-4692-bb52-f8e5a87233a2 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00dda3b6-81a4-4d36-9607-3c449b61b6dd phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56297c3b-04da-4732-a181-4b1ad1aab8e2 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c8172598-24cf-4eda-8a1a-8383ced09247 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf90e7fc-75c7-4a56-aa71-0ce4aae76450 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:974d230c-a978-4c07-b5e0-356f2a1b64f6 phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:cfd349fd-24ed-47fc-9116-ce7e855fbbff phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:394afead-58c4-4fca-9688-8d7c8bbbfd5a phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:821862c7-8fe7-4d6f-91a3-2cf639b6b87d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2e125007-b9c9-4c64-b5bf-d0b2ee78e42f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ec1ec660-78a6-4396-9220-17f22033b628 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:10e89341-26fb-4150-b1d2-2beb994fda21 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:64bcb704-ec44-4d00-9ee7-81cd48aea003 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ad8a83de-b12a-45df-b576-08722e17226b phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7ab3d547-9cb3-4081-867b-d099450a569f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2d9b4e4f-0592-4c4d-850d-ca33a720fefe phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0f631fa6-7dd3-472e-befe-995e03d3f3cf phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8915d1ba-a92c-47a8-b0b8-96e41eb52129 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0af413c3-3423-472f-8b75-36225a90d529 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:29533819-4668-4b58-91c4-d9ff1d7ce54b phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c7fde1d-dd70-47d4-80d5-3b6f221c7479 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e957f650-be25-483f-bca1-d72a7b07eb33 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a4ddd591-c6af-4841-bb3b-004be6cb4836 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1439c3aa-1e66-46b2-853d-7af49a4d9438 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35ea83f9-aef0-4e17-899f-0f9a7c2b29c1 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1b4ccc2-528b-4e0d-8e68-70d7fb3e7792 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84d1283f-edca-425f-820b-b406976a595d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d36e7bda-8ca8-4a2a-b6f9-aa10d3188755 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ecf39682-2730-4f78-9a5d-9f590bfe5758 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf16dd68-0396-4c5c-be11-34040fbababc phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a4546b8e-ccd0-48ba-8c79-a2d71670e987 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a47cff3-b70a-45fd-bcc4-7728a98411ac phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a880ba7-ed9e-4886-8182-643f0ffd75e2 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0513f4f3-7751-49b4-af91-34c528f346d0 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bac623fe-dfff-485f-babc-b80eccbc6d5f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11eb05b8-0c51-4776-9aa5-07e6c5cce382 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52b07439-4434-4c2e-af41-5e230ff5a7ba phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29a34452-5662-4a37-8989-8edb2948441f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f18d11e1-4a84-4adb-833f-b85bdcdca6f7 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1df57fae-9173-4eb7-bc37-f77db23dd623 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c6ab2e16-7b3e-46c7-af80-307addef1f1d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e43f4f63-1c7a-4cb0-bb88-33f34fd66212 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed30a4eb-534d-48e6-8a47-b6c9ba484318 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:458e1037-48b3-4541-a88d-18fb19bdb8ad phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a15803ef-1e86-4c71-8eb5-2da6f5c634fe phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7304e095-8447-4eda-b7aa-4f74d5208838 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67fc4357-d37a-4443-ae66-417a93d8bb86 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57076b97-4d84-46b2-8b36-3ed731cd109d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ea86a0e-a8b1-47e8-8674-25fe88367302 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee2efbec-f2c5-4298-97e9-b7ff3f7f394c phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c9e42a6-443e-4753-8dbb-020f5690ee7b phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a6d3593-8aed-451c-a328-49ebae56e8c3 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1599e9f9-33ee-4b4e-9cd2-90037875ff89 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46290778-7a89-4c08-9d27-b6f566133121 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5252832b-37ac-4c51-b986-79cd46f98ce6 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d6cfe12-73f7-4c61-9a6a-586cd69d0842 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3f253b7-8618-44f4-937c-b98180ba0b07 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa6b3fd9-dfb5-457e-8c00-9eba4c00615c phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:717fcc38-e334-4e57-97a0-3bbbd2b3e671 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:baecdd94-5484-4133-9f9d-2aed2a299e8f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb92ebe2-5349-47f3-b1c3-768db6247fbe phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a9c00afe-23cb-408f-9c6c-60786a5f30a7 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:78c7e945-0f31-4391-a1a3-f6179b882fb4 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c098c7e-15d3-4264-a792-7b6e8849db48 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e278e336-d470-431b-86f4-a0b3aa7015d6 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:082c615e-7188-44ff-9a79-b6bef494a736 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10d75f91-1c96-4ec9-9ac5-aa0076e8ad98 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:28cbccb8-a2e6-45e2-9b1d-112d8eed445a phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36a3bf3e-6d65-4e71-93a9-81006124521f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:54ca317b-5844-40a7-af52-15e9c671cc21 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7eedaa5-8e76-4eb8-91d8-f98e752d032b phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c30ee227-3ad5-47af-8437-f64fc4ba7a2f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a843aa9-8f86-4e96-8714-b7cf6d4fa9a4 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c733b083-1b34-4adc-bfd9-fdaddedf85e3 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc39a72e-c318-4e36-9d3b-5b61b370c798 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6bf970a6-5324-494f-b3e5-c0e765df80a3 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba1ef15a-a2bc-4978-bab6-495dea5d5937 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba3bc134-9eda-468c-91f1-532638b24330 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f582d49-147c-4dfe-baad-2164444c1f68 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97b89d6a-0678-4e23-b1f4-3072825d0eb5 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:32d3311b-0fa1-4242-a5d8-68c6d43c9a6f phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a58c708-9c79-41e9-b6ff-417556ee47d9 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f18f7e5e-9a5d-42e1-8d2a-effa0e54597a phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bab4370d-40d0-4545-885b-253060facdbf phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c22f473-6af0-4888-8ad8-b8e062458a1d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:27cccb45-9b93-4faa-86d3-0bddcf102dea phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe238f6a-f063-4788-a488-b2cb025070eb phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc544a92-150c-48b6-ada3-03450c72dca6 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1e2973f5-c437-40f6-a813-34e3585c9580 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b9396ad-8129-4370-9a88-8639371f5a8c phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:269f4be0-82f8-420d-9477-f3a96d0f9302 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1be98d1d-4bc9-480c-bcc3-ac8946bde029 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74eb4e2d-224c-4740-ae49-3ee8b9d221a0 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82b3cb9b-db65-47b6-a09f-d93b4ea4fedd phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa1ab597-cd36-4062-a748-563895b986a2 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4977b4b3-0c4c-42b1-9de7-30aab64e8829 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbfce059-4bb3-4350-aecf-7d0769d851a7 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f515eb4-ef5e-4998-a87e-a1b55b959d00 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2dfc89f1-6126-4e9f-bfa9-5519ec1a7d52 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:931a8d26-fcbe-4617-b040-462b2756d17d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:edb107c2-239b-4d68-89fa-8048e0c561ac phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8254d4e4-d164-4fe3-ad1d-16b91b4b50d2 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:093c35ce-2b13-4df9-ba4d-6193275256e9 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b0810e43-4686-4091-b16b-fa0a45fb358b phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9648686-d55c-4947-8d66-4acdb4c04604 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b7173d8-293b-42b7-af16-1c83ccf98ac3 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:909712b9-324c-4400-96a8-f643e77918cd phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ef2c26a-fe5c-4e17-a0cd-163241ebe6c7 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63c75520-944f-4e32-a5e6-bb09349c1091 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb181888-30c7-4469-8ab1-7c927f20c6b0 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:791c579d-d809-4b5f-8fc2-9c8d2833c0a8 phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd4b0a6a-73a8-4e4c-8ef8-1467763b9c4d phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:73c177e0-77ac-4116-949d-adc947ac2bee phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:f8e5d543-34e0-4390-9200-c7d4339a77a6 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7fa31edb-a0e1-4aa2-a877-b6d9380719e3 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8b1d05bf-a179-4d58-a71a-3cc03954e44e phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:576b5f6c-04c5-4850-9525-b3b920d748e7 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:582f46c4-1f2e-4966-8722-ddbd9e561fbb phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e038c714-dabe-419f-8b41-3bfe52d31702 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8efe01b4-3b9f-485b-b26c-e530b609a38a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6727eb5f-6275-4179-aac3-7f02db8856e1 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d478db88-41ec-4afa-97e4-64882daf0905 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f22f18c0-359a-4524-ade6-70f2cf94b65c phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d8d4bf88-1f5a-4c7e-968b-6fa750b20628 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c8a2ca9d-8bc2-421a-b037-036f39160abd phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:76182011-74de-4271-98ea-4851562ec8bd phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:23e70ec5-bc48-40e3-9b96-70557757eb6b phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:faed7edc-d2a9-491b-b8d3-3899b9af9d45 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7150c743-d634-4999-a3d7-269c9856336f phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a2b2e5e8-043f-4967-b8b7-44bcf15960ac phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04ca2b0a-7588-4c14-aa05-5103da7710de phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df962dcc-c771-4abf-b6e9-e679b47b1a58 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:adf9ea52-318c-4592-9720-d21abc26e5c7 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d212e921-af08-4029-bcd9-91100cb4ab4c phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4005ee48-8b4f-4401-8500-8f30f59c7523 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c26e7f2c-7b1d-47c5-8e2a-bd5b5ad5b96f phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aacb2709-20d4-48a5-a9a0-137400588790 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d3ba9767-9517-4b9d-b722-3ee1f0ff18b0 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:334fddc9-8c41-4fc5-807f-03377c15faa9 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad8b0f98-4ca6-49db-9d9d-3df93f2d2ff7 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee7c5e84-128e-4801-978e-75968be2152b phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a107717-a2a0-4145-95d3-27b7d5e79a39 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bea4cc7-5bf5-492f-85fe-80274f7d3170 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aaeb4f47-1d19-46f0-a381-50e8a307be4a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fad89918-a8e7-4fb8-86e0-4b7061c1e08d phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5eea87b5-162d-4984-8ac4-119c34adf9ef phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c52f1ba-a2d3-4ba7-9579-83b143e9ab88 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12f8fc58-b314-43e9-8d0a-bc3a66cec44a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30972224-9f2d-4446-ba79-56d9df63dc32 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5e54675-7364-4c5b-87e9-c024265c70b5 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc8d3576-217b-481c-995a-fb6e28610927 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55890bd2-47b6-40e0-9713-f05939439b98 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23487104-ecee-441b-a01b-454440f6ab21 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4d2f5515-88e6-4b8b-b818-b46d3d09c016 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a4ce8bf-0dfe-4f21-a8ed-196f02c77207 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10c11ad0-02f5-4cea-bf8f-2870ed3c9fc6 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef4719e4-c398-4346-82da-c71e2ef89966 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cec275e4-f836-4df4-9010-4d969aa06ac5 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e59c0ae-f4f7-4b1a-a3a4-df5d0aa4e27e phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b556d7e5-6c59-45ce-ae73-b0c7d877a5b3 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:13a0499c-990d-4ece-9433-5a3565db4694 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:615e5639-3b86-4114-8e41-96575eb5a974 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:70dc78b5-3cff-404b-8337-950b491e894e phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:627f2d1b-96b4-42e7-9250-46790b67e483 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c9fb2b7-654b-4640-80fa-b7befc70ee81 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a376eb4-1118-49f4-ba28-0b17dd4acbdb phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc13f378-8b3b-41c0-abd3-9858c38e9774 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d0c0ea2c-cfb9-4857-b0af-b3940ebd6776 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72d32483-9c02-43e7-a2b3-31826c60006c phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ee1deba-af47-437e-9f4a-50b1efc6f447 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04a8b1c2-6199-43e1-9322-f9a77d382eb6 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34866a87-fde0-4f0a-890e-d3cb0860ed00 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:233e8e3b-e60a-4682-b783-e20df49818d9 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e97148b0-24df-43ea-9a00-af4ccb2ea0a7 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0809e20f-e3ba-437f-b19d-a6b03290a2f4 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1fa7045-2f75-48cd-8289-020d4425c742 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:100914d9-e303-4aa8-9091-944805954531 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4dba1690-51c9-4019-a598-f603ad2d3d1a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7a8717f-b121-4a3f-afac-2deb5f9eff8f phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea5e30eb-dab3-404b-a345-c99bb6fa134b phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a749f83-0857-4d34-a32c-f1a9fd3f4d3b phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65ceaa20-e5c1-47a4-81a3-bc214a93b81a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25628728-7ed0-4f20-b6f3-2cfd84cb49fe phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6330c7d7-aa4e-400c-8acc-c6b9ff560f35 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af1eebb2-4697-4077-9437-53724ddc6c68 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:712f63df-111d-4eb7-8aa5-f2f4558716a4 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a8cb7f4-bb59-4b77-8f08-210d42d8917a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8908ac3a-991f-41d6-892b-d18559a261b5 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0fe5994-2f73-4ca1-b8a0-e30544bff448 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b4b8ed2-9e09-40a9-9eda-235c12b33515 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c778ae5c-30d6-47eb-af87-47077a2e3d75 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b858fec-4547-4eb0-969d-05ed0a29b18c phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b1114b2-963f-4c04-88d8-377f70458363 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a576539c-ceb2-42e1-9c7b-3bb6f2c63c3a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:164bbcb9-96dd-4031-b793-706b0bb7fa36 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae5f074c-6d25-4b6d-a22c-9edbc8036862 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4cedd96d-cb2b-4d66-870f-c974acc6b924 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5de580e6-adee-42ef-a6d5-2f7861c91c4a phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:50995d4e-de63-44e8-b2b0-937e8569e79c phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c5c0b41-d967-4a78-bbb5-88b68caab948 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d9a07c6-eefb-4384-ad3c-7dd0bff8beb8 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08da535d-d93d-42a8-ba83-365b0a942ace phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4ecd5dec-f8cc-46b6-a6ec-c639ddd4c967 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd8e7005-4216-4b4e-ba57-9b7175342a7b phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3367bc61-9f53-4e90-8181-2fdfb85be2e4 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8821ca97-9c1d-4051-8431-6864642147d9 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:492dd4e6-0c25-4abd-b914-763c77be4cf6 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d7fbed8-6954-4af8-aa9c-f00a19ed7053 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfc24f13-aeba-408d-9570-147fb774bce0 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a20ad5cf-5524-4cf9-9b87-3f18d2660778 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b80f8488-25ef-4acd-9a1a-1a36f3a67331 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04f1c016-2652-4dfc-8dd7-bfda37125ce9 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:850f9a5f-a13f-421d-9eb6-06e65df014dd phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29ee4811-3a6a-4150-88be-728934b3d5be phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:d258635a-41ae-450b-99d8-492b82bd7603 phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:dab8d670-965f-4874-b122-d1c293bdcafa phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d79760db-935d-4fcf-9742-2f7f7e3b72eb phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dce69acd-9c09-4f6a-a3ee-38123c5f7643 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f2232598-49cf-48a7-9ad9-11db7500e80a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e84a7adb-2b6e-43c0-9c33-8d2632fa5eee phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:282b9157-40d1-44d0-bf4b-6390ef681cc5 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e5e6720b-252a-492b-957a-4582df08923e phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01b676df-fab2-4eec-bf83-e10652d4a143 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47ea6ce2-fb72-4122-9886-c98d3b92ef06 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:babc9dc3-86f1-44b0-84b0-fbe706529179 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8dd0b385-8d3a-4865-b2b6-32fc804f47fe phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8de8ddb3-6a70-49ac-9259-c890f5d34c4b phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58f59701-5fc7-4fb2-9611-8207accbb6ec phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7826037e-3910-47a0-891b-197c97824d7a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc7e609b-9c57-4982-8312-225e32670082 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5c86de3-530e-4f82-a35c-a76dee9d0b14 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98de8122-7347-4f5d-966d-9da81a1182fd phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1462661a-3f09-4a98-9a6a-1c35af37d980 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8944f4c6-8e23-448b-a0b3-baa99c6033cb phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:760858b7-4bbd-4682-8ab6-4cd16df33d52 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd13f570-70cd-4a63-acf2-f48ae1ea61ff phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a49530e-57dd-464f-b3cc-f2ad967fbb14 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b87cb65-7598-4cef-bec6-0e77c204e0af phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8720e9c2-caf2-4bd0-b811-a34dd24a821a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:869793a7-4eee-4425-9e95-f77396872683 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b1ab507a-6e5f-47cb-b7cf-2ef384c66f9c phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a48972a6-9281-4c30-bf09-ca619a0d6bde phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39c48442-5026-451a-ae9f-53b12922600f phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2ddef54-978f-45eb-8c91-782557a8081c phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85ce2155-32ba-4ad3-8560-f3fcca5d390f phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbea934a-3fda-472f-990c-9441cb3e64c2 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:578b74e3-3ff4-42c2-afd8-f0ebe5f55370 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cd26ec0-9c87-4821-92c8-9df2e2546a88 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5eeff406-1b98-4200-a7c5-a30ed1aef48b phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f5264e5-27ad-48c9-a45a-dc8a4e4f5506 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93eecb7b-2f97-4c08-b84b-5c8c32b956b8 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e850a084-700d-4668-967f-f3c2e048ddad phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b387b908-c195-40b1-9319-68f5909c9abe phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:225213bb-9dbb-4246-8c89-970cc7ac65fc phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c097586c-a6eb-45ca-8f57-78f80002782d phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bc285bb-5185-4149-a383-d66358bd90c1 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfd5b799-69e2-4e85-8d85-253c4b36c829 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d92116dc-d86a-4660-bae0-cfcb6d48481e phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35f63798-00ae-441f-b5c1-0be0dd2b7ea4 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8dfcf0d3-3bcf-4eb3-aef7-1a584f2fea03 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40a0e795-6014-4741-b856-beebfe0adafc phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3c1083b-7d2e-4645-ac50-0fe91bb1715a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e8622eb-2f66-49f1-9a7b-81ffb19edc67 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad40c73b-6166-4e12-8985-4013e5437a84 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10874404-c712-492a-8921-ecda46399fbd phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f09ea34-e540-4cd2-bb41-4682c0d1ee43 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8285f494-f78c-4749-846d-67b7c0da3582 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7c94c03-42b9-41eb-a8e9-5691cc5a40cc phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:710d9485-8b6f-40a3-b70f-f5cc68722d0c phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8875736-06b5-45ad-825f-d1fc12100505 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01d85343-67ad-4175-824e-213a90081c9a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:090789cc-eb56-48a5-9b9e-c63d16e11df1 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2115e28e-a189-470e-8dc3-2836695a60a1 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e90eb6a-8610-46ea-ad29-616a38af2173 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa47138c-315a-463d-b49f-99ea85747ff9 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3afe6716-9c46-4c4a-b114-23da2856b4d4 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74156aa4-284a-4d1f-9465-4be969cd7afa phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0850a88b-d9cb-48b2-983e-e3ec1e0b21e9 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b9a3aaa-8687-4c93-a50c-582a32506333 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4250c85c-ef8e-47a6-a043-4b8ca69a8817 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c6d750ae-3043-4adc-8830-1d0522eabaf0 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc891c3b-9a22-42e9-8821-624611dc492b phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e90c6ac3-d9a6-4f17-9ec4-ab48e4e01c66 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce6c6e1a-e7f1-4291-a8b9-ff4dea82757f phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17cba0c3-5d0f-4605-a7bc-a8c34ca36a11 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e110e257-d554-4e13-9e39-ed61ea75d3c7 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61639223-7b80-4b0c-a17d-dff653ee962a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1cbc8ca-1398-4096-92c9-1b8927b157d4 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1541dd36-6e1a-457f-9d82-c731526ad953 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a85d867d-9302-41ac-b60a-08354e4347e5 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:876e0596-6251-4d71-8e23-8778378c2170 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66fc00cc-ba8b-47c0-9e67-506e236187bc phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c5b7d55-521d-4a4a-8eff-42b4fffde62f phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34982cc7-9727-4087-b769-8e3dd13212fa phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cad707c8-4fe0-4b16-8fee-3aaf98c3c0b0 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:73b16fb0-9e11-4744-9fc3-0cd9c8e47a2c phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93f3f06f-b6e9-4dc1-8cf2-2bc877afd19b phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe246035-57e6-4044-af94-681732f9f1f3 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46745017-c94e-4dce-852d-5837ad49d0e5 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68c13e4e-7465-4eae-84f2-d3b4be2ec6ff phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc0fc94e-cb1d-4f03-b585-075de303b3ce phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:19ff64d3-7823-49b3-8954-b89db06414f4 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:653d23b9-eeeb-47ee-ab78-f8692875b71a phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc845fc4-e20d-4168-ae1a-e366b4fe1c32 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:710dedd0-2948-4eec-aa77-95014977c647 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd2ca8c7-757b-494a-9a98-7eec2e8923e6 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c0abff4-e5a9-472d-8a53-ccd3f621eaab phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f559f62-8f54-44df-8613-dadef569ab52 phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:c8b09631-8934-4751-a159-caf2037c43ce phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:bd7ea30f-57c8-42ba-9f2b-7afcb79b9131 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9ca3d269-61d3-4a5e-bab5-30d27d342528 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a1131653-2efd-4887-b0ee-991344ce6535 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:74db6b05-0a5b-4074-94fd-1cec6528bfb1 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:041f5560-4a63-4239-9c5a-e2f95bf8ac82 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8fc066a7-6b34-474b-aea0-ee9339d196a3 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4b831057-82bf-4fb0-9bed-b8525866ecdb phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:06825681-5c8d-4205-81b6-234ddc4b305d phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5511e935-18bc-4509-bf34-ea4cd18a6fa6 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fafac74f-1388-4bb8-88d7-14b6d14194ee phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:283d4007-8ff0-4405-b0e2-44da59727111 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:263dc712-c5f3-4367-b96f-c1cea53d8e0b phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:077ba535-3318-4cab-9c8c-4bbe0684ba26 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2d726084-4bed-4371-b6ee-64fd5f8ada06 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1a98c3f6-21f0-41d5-942b-af1f3de6300f phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:923fdaee-1256-4de6-9d08-e323b99fee34 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2d667d84-7aed-41a3-9881-89de3090d7bb phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5e9629b2-1c0c-46ac-b55e-2f254f78799c phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:42b69ade-b7bf-42c7-b590-7ac47e3e871e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be27e13c-cf84-4d71-a0a7-c679d9090036 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12f13b5d-9c8b-42b0-974b-2a7a84ae930e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8854689a-593d-4b70-8e5f-a3fb1020ebde phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8272cc81-bc1d-46bd-a60a-030b85b820f6 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d92e2ca-9af3-4854-965e-1d82df88b1a8 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06e6c6d9-bc3a-41f3-b3e1-9541d07d6670 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb6cb169-3bfb-49ce-a677-ed2540bd1e35 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:909557fd-a0be-4b92-abf9-3c3771af5159 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b17eb89-88d3-4a11-92bb-247da36e7d44 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1e132509-aa8f-4e5a-abe0-00f81c9a3c2d phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12752390-a087-4ade-bccf-7b99fc18c376 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:775bb50e-fc17-4504-b228-831fff9e405a phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7744f31e-4c87-40c6-a759-7dd033c91ae2 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bb172d6-1e84-4885-b5ec-cb14c1009cfa phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62320bf4-e3dd-4ed8-99bc-92b4fb9053ac phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d3b3059-b285-4794-94d5-4e9f543da096 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5bdcb94d-1844-4c38-84da-718461bacf0f phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a673522f-982a-4cb5-b3e8-dee8d066c2b5 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:31898ac8-7333-44aa-a03a-0083c60b37e9 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9dce3f81-99c1-48ab-ac83-bb667068b760 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2504079-d633-4c1f-b9bc-a38a5d68ab77 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb433096-fb0f-420b-9a0e-1ee23cfb389d phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9386779d-f03c-4ef6-8692-229586b01a4e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d4f6aa8-270e-4dc1-bd2c-1b4257ff10ca phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f57b50e-f5c7-4913-805e-6251c38f1de2 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21f57481-ffc2-4cdb-bb47-66f73869f78e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe7f5efc-d520-478c-8900-460f40c5a493 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8782517f-b121-4c74-8690-fdb4735406f5 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ae46682-a460-4366-8772-b247108df646 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0defc8a9-9187-49f5-b647-1371999c71f8 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3addc4c4-c47a-4f05-a860-31e9e8d22b87 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87583b75-e034-49dd-b805-8e7a4fa64e2d phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7fc7f7c-8b5b-493f-a040-ded646af42ed phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:101ca370-a0c7-4d11-ab35-b16eebed0f7b phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4c2f9ed-cec6-4760-99e1-ec0d00e9bfc8 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5798a081-5c1e-4926-b32d-8a28d144801c phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0efcbdb5-abaa-468c-9eec-1de9ff85eaf7 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f8a9227-4080-44cd-a24a-82b295f5bbed phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e19c185e-0e1e-4831-8663-15a2b9e73232 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:287d8fe0-7790-41a7-8f87-3ca8ff9d551d phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b8ce49c-8b6a-47a3-a9a4-d1feeada6813 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09422684-9abe-49ae-b0db-be3dc27c0a7f phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f7031cf-f4d6-4f3e-bd8f-54fbf9dc4baa phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f150fcc7-83d0-41bc-8dee-d479888e3694 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0e9375c-01b7-4f3c-a1de-79a68f9e5f21 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:89e6c433-82ab-400d-b49a-8a84e5ab6ef0 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:813cc6c5-22f1-456e-b5d7-e5dd4f4e0486 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:857e7fd9-d74d-4ed5-93ba-b67bc8dde077 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e6b6ed3-3c90-435c-9a50-082b2ef38360 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20d81840-5155-4ac9-b997-78cf7424ebb9 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06526615-f655-4b99-84f5-14538fbba090 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3d42ecc-494d-4db2-a0c2-f22833fdd323 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e311ba54-af4f-4506-88df-c82d6b337513 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49d6b3d0-9b01-43a6-a3c7-c456bc6e9c3b phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e96bde3-876f-4971-8038-50fc46574153 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16967c1b-66dc-4260-a299-f4873842a5fb phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:367c583d-1775-4057-82c6-ea4f3317653e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c58a9a5-6035-4cbb-881b-3aad61bbc7e8 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95805d4a-4cf8-4df1-9080-1ade854ca7b5 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6898cec9-8222-425d-8ac3-a1d42b660289 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c70134d1-7550-4fce-b0df-8a653e6624b2 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f751cb03-f72b-4d3c-9d01-fb7c99495d31 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:675f51bc-e879-4346-acce-331f650f9140 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c95a37c-4618-41f6-abc0-3a6f2eb204a8 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96065b56-0fb1-4d5b-b30c-7837a43d447c phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26e6aefa-9aff-4fbe-bd08-ab415cbd9b4a phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9620eb13-a113-4c08-b276-dda0d478f2a7 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08dc44f5-dc49-4e2d-bd8c-6f9a57c7d73f phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad88d9e5-1f83-48b0-9579-3ee33b7a83f1 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35cb47fc-781c-4ecf-b535-550933fc5e22 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:19072e40-a8fc-48b8-8688-1c8073a5a90c phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00157164-9e36-426f-82fe-cfe53360ef5c phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b65a0af4-3f36-4551-a2df-d15a47651299 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7620aa5c-b0d6-4815-b1c4-d9c052d05f3e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53067750-2038-4e40-8ee7-34a6d0531d08 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83ee5296-6b3f-4aa2-9175-1e50378ade63 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99c3ec88-5e9e-4172-b4df-434af7bffa0e phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da607d4b-c8f3-4aa9-adf8-3ca122ed000b phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0260fe8c-c4b0-4dd6-8d31-ae44962e6c3c phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:54454858-0603-4e8b-bef7-4263e5b4c085 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:944b4ef2-41d6-49bd-88de-0f9bd724fda1 phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:57500cd1-af4e-49e0-acde-45be77537682 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c2fc37c6-3fc9-4ca9-988b-ad96a6fea0f4 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bb78b14a-c5b6-4991-93dc-b69b6955d56a phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5d384279-01c6-45d5-9102-223110c2c16c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7f224d78-51c9-4876-9333-1afab86ce84e phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b567191b-f663-4db7-8aff-3d5efcb88d76 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8b7922ec-4f2a-400e-bedc-8cc36b65106a phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:eca9ff79-f446-4812-855a-dd6ebcf1f748 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb660f7e-d294-4b9c-acaf-e8697f15215c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a73209fb-bfdb-4ced-ab13-f2e214b3f7fa phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc23991c-aa4a-46da-9745-01ca6116f6f5 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b588a8e-0c83-48c4-b337-c3ed3f8e4da4 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1cbc165c-7d46-4072-8db6-807b39426eed phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52451fd9-6088-4a0c-b0be-a465b93e22c3 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f70d87b-9fdb-4d23-99f3-21fa0fa90335 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:831e8b2c-8769-43da-b288-76a8acca4a7b phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:118f1f91-a50c-41a7-9dde-59abc1bd213c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c60fbe72-98ce-4a00-9b93-656c91df918d phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:89007955-15f9-4f0f-bfec-0a39a946e3ed phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2bccfd30-70cc-454b-8141-564a85860c62 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8996f763-9b83-40f7-aa70-0bffe430e0df phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b79d46b-a049-4381-9cd2-848421b4924e phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f55b7df-3c40-4031-8aaa-b758ead83929 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bee262bb-a083-468e-b5ac-419180fc93fa phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f0c2840-cbea-46ec-8553-586aef93520a phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ccfe0c63-57c7-40d9-bbdf-d419ea9c7399 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:136a5c08-95a2-4c0a-8faa-9f3a7ca74f4c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1a692d4-cd13-4f6e-9132-3e2d106bdb8e phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a10ac38f-cdeb-4832-8081-2ad15e5651e2 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:560cc442-ad11-4e21-afb5-5bc37967de74 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec413232-efbd-4a5b-9930-5a6df12f3c2c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d8e032d-3622-499d-9275-17e9cab852da phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:43ff3813-2b21-4b40-a2c6-14f22f525d7d phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d3094f5-e397-41ef-958d-dbafe8d99066 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c6e759c-1578-49b5-abc1-2198344e1d11 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15af60a9-c607-4d44-8423-6ef662ba6ffb phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2d89596d-e17b-4667-ab54-52725fd34cd4 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:704f59fe-3df3-4dbb-8a1c-b6e7abaefdc6 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a755c585-15f3-492a-b4f4-314ba993c7a2 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b45aef43-3084-4172-897f-f5c18123aa2f phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:815f8ce1-6ccf-4e56-9b9e-276877fbb5e1 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d271628e-dacc-41e5-8504-f7a33ca571a1 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17970032-dd65-4a2c-837d-59f6b95eb884 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8993ab9f-d04e-4a97-ae73-6ee29369fb3e phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f89f0b7-995e-4b7a-8d48-aee20170d3fb phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ac998ec-bfa1-4dfe-a027-fa2a01dcc887 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3394828a-d6d4-4767-b702-9bc11df8fa01 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dfbc2ebf-df4f-4234-8401-4d41d895f517 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98daa8b8-5da6-419e-be90-506dfde5b456 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b6df7f57-a9f8-48ba-a160-17b4e042a0fe phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53b07f0a-4ec4-4792-9069-bdea9d116daf phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b8213c7-53ff-4c9e-a9b8-4cdc540f07bd phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69936456-0bd1-45d4-b1eb-233ef5a8416d phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d12abf69-3290-4ba9-a7cf-e9a0f8431804 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d34c7b6-7319-424f-bad1-94164be55468 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0ca38d4-371e-46d9-8db2-6b52b273e5b2 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30af2b1b-207d-4c6f-88c6-9d4d98fd8e76 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61d4a363-c4ff-4916-b622-251f9970e03c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c96476fe-e234-416c-932a-91c867e40457 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e17a096-394d-4ac2-a926-507fed82fa26 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca3c57c6-2e1a-48cb-a8ac-a45c09b59eea phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c238fecc-121e-4d29-b6d9-c59949770fd9 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a945dbcf-4a89-4d02-88d6-1b2f939e0f20 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1ddc43b-7db9-4dc9-aabf-3f8b95602952 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7a0fc53-c4a7-46b1-b78d-69fe04cdbd95 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:455cc5d5-f582-4a69-8206-33a2ed791865 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2612a785-aefb-4795-b700-1c2c73ef473b phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64098edd-50eb-4d62-9a96-755f5623b40b phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02eceaf1-9711-4033-95d0-1df8ee13d5b7 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ae32a5b-d5ca-4e2a-84a6-b89e7bafb84c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f53e78d-3251-4912-b496-5c8b07cb632b phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0e2db98-29fd-469a-913d-341b625d1923 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b01f4370-ac93-4624-ac23-e3e2c22ded68 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bce2317-4d57-4c1c-8c34-f539fc6e1dbb phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35aaaf9c-770e-44cf-a651-6d141243908a phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f593727f-b80d-49bf-b182-67a4fe275bb2 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:18102723-ecad-433d-8d56-1dc7f3518c0a phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9e8ca6d-2269-444c-80fc-c3f17884ed1c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f57f479d-05c5-4fa7-b841-057e5eeb364c phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5fc855c-0332-4390-833e-1a475790f3f5 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08d5bac6-711c-427d-ab03-fcb3ab0b1178 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30c04645-f70e-45a7-9982-4602f724c642 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6b456d9-1c02-49db-a637-fe80866f8d24 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aad21d24-b978-4486-8507-124709105bf4 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb678a18-2fb7-4a87-bcbd-d3ef54bbed4d phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1210bc4-1717-410f-bc1e-17ebcd820f04 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2371116a-cba0-463c-8025-eae9f9789846 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db46708e-3459-4638-bc41-615b3e81e197 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63c16dc2-c045-458c-9b82-5657ee2ee485 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79c4549b-0d6a-42ee-b277-d3c92be8c179 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6bb52102-1058-4cc5-ba8e-ecf04eb7eb7e phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:32d80ebb-5c2f-4290-8642-b6d457f7c714 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bed04901-d8a5-42b0-ac87-3dd730ed37ed phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ffb7a855-66b3-4509-af9b-41ebdd420d55 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b59bcac-424a-4b62-9cf2-9426a6852960 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9436fa4-f577-49ed-a85f-0f2a3f80648f phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f257e25c-b502-482f-874c-1dd0f8317a64 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2c2e8d0-e4f5-4d59-b73b-c138a9cb2716 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:399900b1-4ef6-4b17-a4e4-41cd3a676728 phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:22e7ab37-ad39-4ee3-b862-006a78b3a0aa phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:df4d5334-9171-4837-88df-1d853e763ddd phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e324428d-21e2-4eb5-b355-7a5f69a4b121 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3596a578-77a2-4052-851a-5f1ec35da5e3 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5ac48033-72e6-4cdf-8f7a-66514a228858 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b0bfb71b-a91b-4c24-95a3-2d131d1ce4dc phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95dd7546-f672-4e1b-a8e1-9e4764239994 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47cdc5ba-7e58-428c-9d71-9fe1f537f719 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:101d3770-3f87-4ac4-b919-1fc1ba98f8b2 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:178737e2-4c5c-476d-bfae-baf4eb58776f phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4615d28d-7b1e-4aaf-b98a-5e77c1c34545 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dee1b679-0347-43a1-8b6f-17e850ce9fcb phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a198d717-31fb-4461-b1d9-d33d92abbaf3 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:702a05af-c2b0-4a5d-836a-bb4daef7ae7c phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba84ea16-16c8-47dd-9148-e538b16e5520 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bc8ca0b-c5e1-4187-880b-917e4acf412d phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f93107e-64ff-4075-8403-e59413972047 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9931d4b-f740-41ad-b9e4-f7533c50edfc phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51280bcf-5ddb-4ae1-b3cb-d57e7ccc4ab1 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b878b514-7f3c-4759-95be-1bb554ba7488 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0e1ddd8-1030-446b-b827-320c35c9d542 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d80af77-e85d-4816-bccd-ca40c39892ce phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d971157-185f-404a-ae6f-6a8daf2d7361 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ecc838b7-66f4-47b0-8424-db04f4b9e41e phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd570186-26ef-4e14-9e8a-6e9b206dcd2f phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96102a5e-08b8-429b-b049-b64584de4483 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d620c66a-fac8-4040-916c-446ba678ca03 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa356498-8698-4828-a453-3121a58259f3 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5b75db6-6937-4453-b721-0b4536945b06 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3fc18480-0556-45a2-8aa9-14b828dc43e4 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb8ae2f6-8fcf-4381-ae90-1b61a9f96a3f phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9107175d-7659-4b8e-a83d-192cd98b75b1 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c2f65a9-fb74-401d-b761-ccbda4907202 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:099ea539-429b-490f-9a86-7093aea376b1 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9cec51be-8b8d-4d09-ab87-212053357ddc phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0374a10-1e1e-490e-9836-8593a59ec3b9 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09a0718c-1de7-4945-817f-8e7d02b13c49 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82bd2cf8-d3d6-413c-a777-7acbc908c1a6 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e18fc9a-ea5c-4ff0-97a0-b5229df43d7e phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8cea135-3d71-46b2-a1d8-fb8621a5d2fc phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58181bc3-30fb-4220-9ef5-1be85ecbc839 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc3136b8-9112-4654-8ac7-24d9ece5ac81 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:accef5b4-4359-41a6-b241-0b480ff08aa7 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de17596f-b694-47cd-89af-652d0dbcf936 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e707fea-0c77-4057-a63d-7eacf1600323 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c17a586c-8245-467b-a1e2-23ba738cf0a6 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94776b37-ce79-4c02-9684-d820ace3fcd9 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6777e38-d114-4c7c-a503-9e9bfaf8a401 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a357186a-a332-4dfa-90b5-00352d5db3c4 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a87eaac-536c-45bf-8c35-43707998348a phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be116a0e-ab07-422b-9af1-0490acd0bd9d phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a2fd421-44a1-4c2c-8818-2810798a1bbb phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a9587f7-da7c-42fc-9260-1c83cf388b60 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:42c5cc5f-bc30-49ab-a250-ee4f91baab8d phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7267ee78-9e9a-43d8-b12d-626c6e8384f2 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93077545-e50f-403e-a0c2-d7870bed5ab3 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71cab1ba-97cc-43b6-8634-2f2f1ba9d8cf phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c829021-1870-49a7-8860-08acd4a99cc7 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cdd7cec8-db85-4e32-a024-b4ca07a813e6 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d824340b-e2f0-4fdc-97a9-2876d53f9a7e phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c515998-24af-40da-9236-2fece7503c9c phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:383314ec-271c-4060-ab29-8b1e89048588 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb192264-9989-44f4-bfde-497e970a7f4e phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57e6f424-3680-41f3-9380-ce040c3bf47a phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fea26cc4-41fb-4394-bb35-8175bf9da64d phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46804dee-ab44-43c0-8886-fed5726045c1 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd79f318-9e5a-439e-b110-e5008dd3a73b phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a9a3432d-cc1f-4601-86f9-d3a02712be0b phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97cc49c2-171a-48de-92cd-67f0e64fa5ad phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:088e517c-3f19-46e7-bded-1ca4ad946533 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d74ef029-9cbe-4a95-a2df-368e30962c54 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:91fb9fec-db59-4596-b989-f201bbe79f56 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2458755-d873-4312-899f-aae40373cfb9 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8819bbff-3590-4aec-a2a0-6d2ef7502198 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce6adda8-784d-4690-aabb-3d11513e00f3 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68dfff69-5d24-431d-ba6e-cd85ad57b3b4 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9393c19f-296b-481f-aa5d-dab041ea3499 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47015b65-d746-4447-bdd4-00b6cada652c phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96bc913a-499a-451a-aad5-843e9a2dce70 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7b51e82-cb5a-47f5-81f7-8f6a219d7826 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa95f03b-db00-496f-8452-758f90aa5054 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2f47ec5-04a3-4ac8-9e43-8bb2e9c45342 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0849e681-5578-41d1-b082-4999354b9462 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20496373-2e2d-4f7b-b6bd-00206e9bb46a phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b1d07d27-00f4-471c-9e95-c74f6ea98656 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b72c49ea-f11b-47be-b06e-64382a0afbac phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b44e0688-3f26-48a9-b52a-47779caf5131 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da42888a-259d-4cd7-96f8-6a78fe4ef2eb phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa3af8b2-d2b1-4abb-8ff9-d152b4f58e07 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:753e87d4-7b1b-4f41-acca-2e331136db99 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ee46785-e0ac-48d3-85e9-627b33d16db7 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:41fa02fe-7540-4812-93e6-5c667fc3cfe4 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:81a64a06-84e0-4b08-b87c-512f682076a8 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0a908f5-d042-45e2-8330-eb63daebe076 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0365c20f-7159-4cce-b4c6-bfbba4376c36 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38ab5af4-23d7-4ae6-9a03-988383aa8ee5 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb2da56b-cdc5-4c20-9bfd-0572c303d517 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ac749b6-6dc7-48ff-919b-2586f63c91a3 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:478e6d3b-c6f6-4586-aa79-70b32aead8be phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6131b2ab-d578-4f2d-b93a-2cfb12ad967b phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9afaa35c-489e-4d7c-ac07-79408557d391 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a752737-9116-4af6-b52c-a835ba0a9a9d phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f64952c-2ec9-4e1f-9cc1-eebb091c9f82 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eea8e876-519d-49f5-a1ee-28e9ee407da0 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90487d50-388f-4fe0-a19f-2536977061ba phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:893cd9ed-ac90-46c9-80f2-4bc7eb4fa851 phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:b42547d5-084a-4b4b-a9f6-e7d632af884a phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:85250493-0f77-44ca-8f75-2e0bf74bf6ce phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3f494b23-dbb3-4de5-9af4-a20c2411bcee phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:61a181d7-754b-459a-bf3b-d29fe024af85 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4dcd3713-c852-4eab-8367-463d1625653d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:53ce846c-432b-4807-8a04-7b6553ad6138 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:aea533cc-de86-47e7-8e65-1bfa63986fea phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b2696767-771d-427b-baea-bf3ddd7c7f12 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0d909688-c489-4f4e-9141-94e4e9e2e84d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:89f0193a-7ca8-4daa-b9fa-ca00852ad34f phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e27ab0b5-3d75-4d0f-9055-ef5931d53799 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5e071b6f-71d7-40f7-8cbc-a0574fd290bd phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:68d33995-7769-40be-a845-6b7e75945000 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:975acbfe-57c8-42d6-96f4-9fb0364c0d1d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2eefd529-b5cb-4f54-aabb-14424a368bc8 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4bd899b6-6c49-4fac-b61b-fd21735d2370 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f84526c5-0ea1-4109-bdab-04618a519933 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efaf34a4-36ac-4319-951e-0cb3b39fdcdd phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f65818c6-ac07-4bba-bee3-41da5d367aa5 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9b13e21-50d3-4a56-aeb9-6982f250ce75 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b978d29-cfd8-4725-95d2-8731eee2c2c3 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79f497fe-8d72-4844-9537-00a238e26600 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1462e2fb-570a-4117-a5ef-46e6ee85b310 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:005e4ed4-ec2e-410b-88a4-03955329a0d0 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72596f5f-36db-465a-aee2-0439eef9b591 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b79add4-a2b3-447a-8685-81de865eff51 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82d8f835-f887-4123-a460-0d4ee4d5e043 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2982c62-8307-48da-ad9d-037784e9eb8d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8db2689a-de47-4b93-aba9-413a7f25a249 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9d14a18-8563-4890-920a-e2df237ab900 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d6358cf-67a6-4cfe-b0fc-1168f91eeadc phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bcfbd71e-92e4-4fb8-b19f-07c5c4576abc phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b70a6cdb-dca3-4018-9590-98d04d3fffd3 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ecc8d93-9aa6-4674-9f3b-872e5306f06c phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5aa20d6a-2374-40fc-be2f-39c4d0837fb4 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3ebd6edd-45f7-4a84-b103-f3ac761f1be6 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:036902ae-6f63-47fe-b30f-2764193e3611 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f86d4181-2d79-4296-bc3c-f26e162b4a2a phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3455cbe-cd47-473d-87db-c131073a3f2d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1725f2a3-db8d-4a33-ad8c-7c4d8cc7f591 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a355606a-e081-4910-9859-36b680adcf45 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9caa5e2-5bb1-4e43-a826-625e1ebe163f phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bf46d9d-0ed7-4911-bf88-d49b8b8175aa phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efd8ea3f-ee2f-4a2a-b917-d81a2608f37f phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33d2cedb-f4a4-445c-bcdb-0335cdbc920d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a8fd9a3-d987-4b1a-9eef-50f75f870696 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d75eacdc-f1ce-47be-8d87-b22afd994bc3 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d54aa82-4a16-4b01-89e2-43898fa11065 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:275d4403-d08b-41cd-90cb-3056cb6dfc66 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2ee0272b-0169-45cb-b5d5-0f99d410d605 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d6e68a9-4a16-4d1c-bea4-476fb6aa63a8 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3de650d7-740b-4bb7-aef4-abacec869454 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9faa0cd-d52c-4e64-94b7-ff0ab061fc5c phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0eb1d2e-0403-4687-9897-025339cfd145 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e5d1c170-e747-4399-92d8-23c7494eb534 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f87158fa-3fb7-4b0d-b27f-30c12ea7dbd3 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4377cc34-95e8-4187-8ae7-30a5bf124615 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8410f02b-7dcd-48c9-b6ad-40a336856ea5 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71ef2314-499e-46d7-b0fa-e66a39b558ab phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c23d48b2-491d-40f5-af09-0e5475ecc569 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f7f418a-9f76-445b-baf6-3ad2dfd94352 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e77eb708-5525-4c76-88bc-2a5fc672b538 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2217059b-5d0b-449e-8e17-6c408dd53ac2 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:767d1f33-1b6f-4025-a9bb-b6fbbc19b592 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b4cb542-905e-4082-99a6-b1d67a4e645d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b316195d-6df4-40b5-8176-5ff35f28b082 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b542bb7-15c3-4ad1-8039-8087090124aa phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff480774-fed9-4fae-98a7-93df82e7e3a5 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:011b81ed-0daf-4f00-a8e8-9577cb5bef27 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08c00546-bb57-4e02-9733-c05156e8174f phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e3107d9-8190-42a0-aa71-fda578b75051 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd5e2ff5-e635-40a0-a4b1-f7b9ac9d93c5 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:22b65daa-d685-477a-9f72-cfc061dd8289 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b4f1870-8541-4ce6-817e-b869a1bccb70 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4f757cf-4b69-4ef4-819b-fafd0bd7db4e phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4b55975-4807-46d9-b93d-e28e55d30432 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:820db764-225a-466c-850d-aa883a3a7c75 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa09c82c-a580-4862-bb6d-582a44289667 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c407ddad-96e1-4f4a-8d6f-70df9ea40ead phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:daa88e5f-2740-4b14-aafd-58493a228323 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b4bdd1d0-f433-43f8-bb3b-3584f5a4116d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c71fa2b-2f3f-4a3b-9080-6ede751b26c7 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7bada5c-1170-4a07-b351-28acd3d5d7de phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:129e8591-5d6b-470b-a2d4-f48da3732097 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5e0ef8b-179c-4891-82cd-595758304368 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4860c9cf-6a58-4030-a267-ba6a89fe4fb8 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d7142dd-c066-4d09-b1b7-cc344ef1b54c phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8a0d212-75c8-40ed-b6a9-11f84abaed81 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80dec508-83f7-47cd-a2ea-fc2e2a0ec372 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55f1032f-3de6-4184-ac08-78ec3d07d4ec phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db1447e0-622c-4a58-9cf3-a5fe261d83a6 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3bfd0781-7804-4c9f-b0c3-927a06019c6d phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e81517b-230e-405a-b477-93c29a07e0c4 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:482f0fef-9c14-4d88-839b-2940cb05ecc5 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c692e0fd-2b7c-4919-90ef-49aab25154fc phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9468a83-f62b-4554-b482-9605b6b938f2 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92b6562b-9fc3-4c2c-b2b0-15be00394f55 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:28ddec4d-7f2a-4aeb-9b9f-b8b77836f855 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a84e71d1-c285-408a-8072-ae6a1dfe61fa phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a36076b-4712-47d7-8600-103efa2a1022 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c038b32-f91d-4111-8b5e-9590e0310ba4 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce56ae7a-0c01-4e01-a454-f7da14ccbbb2 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c0bc276-2b1a-4a27-8d7f-5de0bb172c66 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2306a0e4-89c4-4cbd-b237-ed45499a55dc phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d3fc600-a753-4ab3-9e94-f2c76efa7b07 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a80f2f0-4910-4913-8a7a-874913cff676 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:746295f3-4734-46c8-bed0-bef82b683d4e phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:e2c8ed4a-ec72-4a7b-b2da-0cd7db77b3d1 phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:2ec6d360-d6cd-40ee-9ee5-565f4874911e phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cf424cd7-2b71-4feb-858b-012c7568ae21 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c79b3efa-e7ab-476f-b83e-02468bdeec95 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:187bb141-0a0f-4abe-afab-056a8dae9607 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b757bfce-2285-46b0-b3e3-4e1d4e80fb68 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:20be4f4e-b6c2-4533-8127-7ec255a14b23 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0da83b4a-0c66-43aa-9968-029712669c04 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3eecf40d-a2c3-4e2e-9b12-72eb74bb972b phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f705548c-e319-4de0-8147-87eebac7bd59 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7453d4a-73b5-4cc6-954b-17dd3d8ea023 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9778517c-4bd6-4d4d-ba1b-43e535565061 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85bc39e3-d8e7-446c-ac08-fd65dad6b632 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0efce9ef-2c51-4f3b-b143-19126666e93b phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e07827b-c513-4201-a1ee-6161a62e6842 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c852d385-c5e4-414f-9d75-07b174d153c7 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3a9d959-7f49-4f08-b1ae-28ffa68e4229 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b763f4f-8ad1-4138-8e76-9599334f4c0b phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5139ccde-9256-469b-a643-5eda17078a01 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b35e5b3a-9fc6-437e-af87-e39720f5fb72 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b4026b40-9874-4537-bb0c-f9c61d225f0c phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66198f99-55ff-4661-8b15-4125630957d7 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e818971b-907b-4e2e-8d17-702f9e1df70e phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4dadd2a1-fbad-4617-9bb7-5e88284c1e07 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6568d2c-9ab7-475e-8ed7-6d133abc92d2 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ec26f85-4b59-47d8-a4a5-731c5cd7806d phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24b8328f-1f5f-4e92-ac42-57b62e203eb3 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc37cffe-f4e1-4730-99e9-c12d10f0f211 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ca06b35-5ac1-4c5b-ac4f-0371f5aad622 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:912dacdd-2861-4cda-84b9-ad8e46b51d93 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4ad0d5b-1f6f-4336-a94b-29b94892a4a3 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f789dedd-99ab-424e-bb99-129dcbaaa95a phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6994e052-b1ad-4495-b9a7-cadb3ad5bf98 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e7da17b-18ca-4e05-b8ed-3a8ff25c7dc3 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c40ce5be-5577-4e70-84e6-a647c9dd91c8 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7c7dda6-b6e0-4294-a223-fb6de2e15f4d phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b36841b6-1fba-4ed8-a6da-ac08047b9cb0 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86477868-1454-400c-b5b7-c252a3a905d8 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be3a4df7-17fa-42f2-a696-2ac6d10c3bd5 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85f9457f-d7a7-47ec-956a-317092fa00ad phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ff6bb2d-9804-4312-b5ab-d8252afb39ee phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2001033b-0319-462a-80db-be273bc7a545 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1aaf5589-d11e-4e5c-bbc8-b761fcaffabf phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:567dad69-d2bd-4638-8f44-abd016ee6990 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:457f59c9-9a54-4b0a-bb26-134e09cdf0a9 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2fab2061-8f28-41b0-9293-82f0713a90ec phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efffb77a-3ddd-4f89-8a00-62451d66c3f0 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99ef4f8a-88d2-41b9-a9ea-ccd019e6d822 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64a98066-7447-4486-876f-61cfcc2662cf phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80590e6a-8dae-44c6-8558-42e04e050804 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29d8e747-9b6c-4d3a-b2c1-81c1eaa4873e phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04cb6cb3-cc36-4d19-b7d4-96dc28f2cb9f phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bfe2b068-1fca-4f12-832b-9aad2092ae59 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a6ea631-0447-4c39-a372-7a791e0f2709 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:510b1fe7-1f14-4779-9d8b-7bc416fae444 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e749728-80e0-46bd-99fb-55922f6bec21 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df1a67da-677b-4795-b4d9-e225e1a27878 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:636143bb-2504-4b82-9265-2e10fbced86d phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6d5ce9b-7633-4ba8-b927-88775a647d30 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aecf1df3-9185-4c60-af46-096fb06ede4d phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad597d2c-c544-4a1a-b9e2-11eb3d7c9ca0 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24b8c806-6047-4698-b6cf-ce8d960aef9f phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cade5406-a1a3-4a42-b4f6-d14206123f64 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a3e4568e-ae02-4d70-a819-10dd8c9f319a phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87ddad25-f2ae-4505-b52d-c577879dad2b phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e29e1c33-7ab8-468e-bcc4-86c54fed779d phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:763ab70e-461d-4c92-b84f-a00644d6386b phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5f55677-7444-48c1-859f-ac64a111db34 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e200bab-4fc0-4dc8-aba8-504fe13c8119 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a2bae23-dfcc-4ca8-8bfc-ccfdee595ceb phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f8da9da-d5bf-4848-aa55-492f02d33c99 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a899d16-7218-4638-a24f-ee44975e6ab1 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dfdc2e3a-c050-432e-b02e-27d57b3400db phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a14f53ca-bbb2-4a29-af86-66d086a27173 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58d6abc0-2ad8-48ea-b95d-bea249fabbc4 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a0ca152-147d-41fc-b353-aa4d663b5994 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98f29d9d-d2ed-4def-b015-102ae5ddcd18 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc8b4c0f-d2a9-456f-9081-6bc9aae4bdde phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39a6bcfb-ba3b-4aee-bd7d-68ebda726176 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aca7b310-4977-4ec0-8eb2-aa3ebffcf9f3 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52090304-421a-48a8-8c7a-1ca2acc750c3 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c8a1d00-40f8-4229-ba21-98df2ffbd6eb phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c728d430-32a6-4211-9432-fe9c84fad2e9 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9dc8cce-b15c-4f42-9706-de066986aa85 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11251bf2-9305-45e6-818c-c6a2838af638 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7997f9f8-2842-45aa-b743-64f4feffe665 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ab7d2dd-0c8d-49b0-a044-b4f33a68e063 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b0d95828-ef42-4b65-ae0d-249efa82dc16 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:22a05444-4823-4cf5-aae5-0c95284d50a9 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2b25884-e6f6-413d-bd17-d808b39d4baa phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86fb0ffa-ccc0-4e12-b931-f3cd29a25eca phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25ce8bd5-ad2b-4c79-a13b-cf2030bb6bf2 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:81d9ed50-eb93-4488-ab79-20eaa856aff3 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c775a6d0-8b58-497b-ac52-7a6c32a943be phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e037f02-3aab-42d3-8e89-3b2b4b4e04d0 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36fc792b-4c62-406f-9e0a-fac77319693a phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c5e1668-5c96-40e3-b432-ea52eac7ab8c phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a40eb5d6-ed0f-4477-bbbf-f784052c4c36 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:52bb3b73-8b18-405d-b98f-007c2aee0ae8 phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:d6cc0d71-6dbe-4ed7-8037-772508c96b6b phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3e50c9fc-d06b-4233-9bf3-71fd65a222d6 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:990dde3d-2970-48c9-9df0-373e383c32fb phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b04ea750-0468-4112-a754-4796d374f730 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:58a07428-3c96-4051-8382-c7981fcb3ff0 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d9c2be2e-5836-44e8-8765-0ba6d0a8c0fd phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a6301c97-b09c-4beb-8dae-499537781243 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:64ed670d-9a55-464a-9cb0-cf2259658304 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b56c9721-c6b2-48ac-9f70-dbd1cefeb2c6 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ac8b192f-50da-4e11-967a-e6a861c8b971 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f93f6dab-ea6b-48df-b5df-14673e9384b1 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:728bc48c-1e63-421e-900d-e28e4a84b160 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bf89cd4-b685-4f24-8821-075054159ff1 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff7bb5f9-5b59-4a1b-b051-198aee8eac36 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bfebd8f-c374-47c9-8ef0-8567892e62a8 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60054d19-3b2f-4357-81ce-1eb0f2128a44 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d2eb335-ba95-4c15-a047-2e0111fa8d3f phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c90f1fba-1af7-4e03-9eb1-3985273ad4c7 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f3118ca-45a8-41f6-ade0-6f383ff0f924 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ce6a611-7c8e-436a-b43c-7443f890ca2f phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40107f35-daac-441f-94da-38ee8fa23ffc phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d0166272-7e48-484d-9ef2-743bf2b5a237 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a4c366e-0c61-4ad0-8e4e-2aeb46975f2b phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6147b583-9331-4a32-8c53-e430921916bd phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bba94944-dc8e-418b-bd5d-804b02d39744 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f36d0b00-73f2-49e6-ac17-a18364bceb4b phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5892c6ef-1693-4fe4-9f0c-237b319ca651 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57e22c02-1131-44dc-902c-15ed36f3bdbb phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb1d25d8-de21-4142-96b0-eaf1d955121a phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be8bc5c6-ff92-477e-af10-b1510495a19b phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c7143d4-a529-43ba-a704-b48b228a17d9 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b5d9faa-6ed7-4195-a010-f012ac97850c phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a21168f-feca-4f27-aa5b-0ae7737eeb6d phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72ed6e5d-955f-4b74-8812-96902e6bba7f phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7314f4cc-d5d1-44a0-9664-92b09a5b2b8d phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24193c39-72d6-42c0-bd09-2c56d43ab152 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0845c676-39ef-4d42-a737-adeed74d7f18 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:394045e1-8691-479a-a3fa-969a16bfbf12 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dfbd2157-0dea-43e6-bc1d-21b25e7a34ce phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c0cae4c-480f-4187-a667-9f51fbdec715 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea72aad5-3780-4691-af6c-539dc9d1fb6f phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b408080-f324-4a76-b548-b3c5df295a75 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e031033-d47e-4387-87a3-ec0e67e912ad phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a03fd23-5d62-4a92-86d4-c17bc10ab192 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5904f69-3deb-4732-a06a-e2782701c524 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:078f9c87-4a6a-4b4d-aa70-e0c0edc3d942 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:114320c4-f15d-4e4f-a411-9604735d479d phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0bcb7bd-ec78-4659-a4ce-4487300cadab phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f7547a8-cd6f-4419-8ad1-13e02fa75686 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b09f3269-aa71-46ef-b683-2270aa1a0ea4 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dee6039c-7813-4bd4-a75a-5f37e4d47455 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1680613f-048d-461f-b206-9abb657fcef6 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4c0eac6-2a1d-44a4-9348-755021f060bc phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e426726-4b76-4bab-8671-c5e264566511 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d05236a6-f6c0-473f-8d45-ef7b1cb3358f phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7cbc5a22-0c30-407d-a356-57821cf6b3e2 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7b8b01a-a2cc-4320-bbea-ae9107c0a0c5 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f0a998b-43e2-47a5-94e5-b81b8c7c434e phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08e05f94-16f5-4885-9ca8-349d93bcb209 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf61148e-9c46-475d-8c7c-b09e2cee2054 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dec537ba-f118-4322-b8de-847c382ca487 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2f183fa-77c6-422f-851c-18cebaa39379 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9138681-d206-4e6b-8a5d-adeaf0d29a05 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4a0bf53d-b111-43ea-9912-c775aeb43908 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6cc15ef1-6816-4603-a4d0-753055a357ff phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed173465-2345-49e3-80b7-115a3e1ef19b phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5539878e-43c5-4aaa-8735-57bc981b7a3c phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf7113fc-77fb-4ff8-828e-2ced801f217a phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:385b883c-c0b5-47bd-8aae-5cc5ad81f525 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55d83bfe-0071-4a13-949c-f58cdf61d338 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:546d4169-1869-4d64-8c75-715d32456586 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95b01959-ae46-478c-a710-f80ee4bd2bde phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ab1b1f3-8e3c-4d8e-a0b4-a36694a71339 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:193eaa97-8365-4f65-bd3e-0c3823efcd58 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8fdf900-bcee-416b-bc71-d0641a0fe805 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f75ce495-f98e-4f79-9bad-375b21baba5f phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:22c45d65-8640-4280-bf38-71d7b21091b7 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a64ade7f-dd71-44bf-a82d-2afde99a2a5c phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:022c1706-a189-4668-8e68-7e1a6657f190 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff67896a-da06-4f98-9bfe-2e21218b861e phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00868a4c-06e7-4e1d-a642-97af7cb75675 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21def01a-c279-4c8d-8797-e3f86fa7c054 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74ac2716-783b-4c4f-a227-aa7ffdf70eb8 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:769b8a36-48b4-4e5b-acd5-2266750f34e8 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58ac5f30-b8d9-4d82-a12c-fda0871748d1 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2263f48c-8d9a-4467-9b76-636f7f843554 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efad4bf7-5d45-4df3-89b6-45ff4ef2cd40 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3979cda-8cfc-43f8-b6d3-a7435c4eb523 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d09811a-bd80-46c7-badb-b83094ceeac5 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00b95476-97ff-4cd2-9e3d-9e714efb30e6 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94b04a68-59f4-4b6b-82a2-5647d5a4aaa7 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aaa1b7ea-055f-46f5-ac55-236a319cb998 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d0abe20e-38bb-4c32-a738-675419004c6c phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a66caed-3cb7-423a-8f31-27934434519c phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd2e1329-08bb-4f6f-a3a2-2381339ffad6 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c3c541a1-21d6-44b7-a897-071afaf833e0 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7c32992-f73a-4b13-8d6d-c70231d9ba9d phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49c9a60e-05a3-4d15-9a16-64f3925435a3 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9d2b3a5c-1960-4fd8-8a71-76cbc290ee3e phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39d2a855-102d-4ac3-8916-3389e75e18e8 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e74b9ace-9ed2-499b-a982-81698636dda3 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1eb5874-ad75-4049-a899-525371fede16 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d644a41-2d16-4c83-9408-2b2ff079078b phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:41b5edff-956f-4c80-9786-85fe2a273ae0 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d09ae800-65f0-4ce9-82ef-d541ab1f09ab phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45a89357-af87-44e6-8312-fe73f77aab7d phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1abfa350-7aba-4403-8137-9907e0a88488 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:053c863e-2b10-49db-80a8-fe488de52bb4 phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:135776ec-e92a-4cab-912b-33206eee1ce7 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:86544117-c6a8-4d0e-bdcf-ff08fbffd36c phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:414134b9-6f06-4b68-89b4-c628aea1995b phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:87d2482c-4b83-4974-b7da-fa03d372759d phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:487679d3-3e1d-4a67-bfa4-d86f0d515119 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:44bd09c4-a530-4d0b-b592-3bf96143d4f6 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:19279685-99ef-4ef4-aaef-f5b415a27814 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:df3ba186-c2b8-460f-bbad-b889648dd658 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9fd124c7-ff46-4d19-95c4-dee7dfe984cd phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d376f347-da25-48dc-a7f5-9524e0b3661f phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:65b85a75-cdce-46b5-8a14-32e9ccef20a4 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:433d5fac-124b-4acf-ba52-d70c85bb7782 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:203bb513-5af4-4cbc-bcb4-155412328b2a phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33219f83-01ae-4364-8669-c0a9fd453753 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:292502ec-4920-40db-91a7-70ea74bbc6d4 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c8d4475-3202-4d76-b4a7-ccf6f2d2507d phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d5ed2a8-0beb-4c32-8d87-ce1cafbaebf3 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed28f769-0e15-4068-99da-d7e48ca35c1e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f4bbbaf-c0ae-4cfb-9b28-634b5f56d12f phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1479a4df-dad3-4911-8498-a07f229846cd phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d0d7a1b1-8102-44fe-9435-84afc61d6ba5 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01d650f5-9844-4342-94c2-84047ca7e645 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b4fedcba-cd2b-4480-a993-78a0748b31f4 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85abaf9b-1592-417f-852a-ee2aad61936f phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:854d9ba7-bd11-4af8-993d-e29c90baac1b phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:540b34b2-c09d-406b-9619-c661e83d8624 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5e9caaa3-9911-4ce3-9efa-302fdebec21e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:313aa5f9-e0c3-4e9d-8b33-1c05386c857a phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85c17441-b703-482b-9717-65ce34338dbb phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2f82bac-e8c0-4af6-8379-a9dcd2f51d60 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b34f650-a049-457e-9098-fe96c17ecf3c phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85f91995-403c-47ad-99c3-3e4726da9c61 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99aaa3c7-8f76-4b5d-8338-40576b284c96 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d73a275c-ead9-419b-8ee8-305cd0a03e87 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:933acf51-91b0-489c-9c7d-b3c55cfab9e0 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b084f418-669b-46f4-8098-36931706c92e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:313c9705-a6c3-4bc1-b720-2c4de5a6a7eb phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0352611a-c79c-429d-bf5c-1f3c07222d45 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15736dba-e7f1-430c-80f8-b09904b474e3 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b94579a-7297-469a-a68e-af900972b621 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8fa2b0d-cb24-4f53-99ad-5437d53fccf0 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8d718be-f645-4833-a511-1ff3c3525a9e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f800cc88-6af4-41d8-8ca1-e2b246c62a84 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:14d4ccf5-814d-4a6b-8bf5-3c8e0e0d174a phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7b83595-5f7c-4ded-b0e8-edeea6a0c6c7 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2fe30b1e-f682-4dd5-91b8-e4aa983e5f7f phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:188bd90c-d063-48ef-8dbe-7959a5bef771 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0cc3e2d2-6996-45eb-b8cc-f2ae84a1cf3c phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f7a6801-710c-4347-a56e-3f22a3f144f6 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b6c5c7a4-5eb9-4bc7-aa9d-2868ad3988fa phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56300e31-3126-4f43-be45-996951627435 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:382d5988-baad-4283-9ca1-44e5d75b3f7c phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b228a5f2-0d83-4a06-b103-b59f8433ef53 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:70fa9da5-7245-4ee6-8435-e6453c05380e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1475b6ba-2ad6-4696-9000-3172d0cc7cda phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:43826edf-a4cc-4df0-81d7-0d6a5b3726b8 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:880d1cf6-bd97-4a1e-8d7a-dd0d3230d8b1 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:888e3ed4-57a7-4403-b766-67bffd0fca68 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9340f8cf-9927-4bf2-ad58-27b85f003bff phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4fa79c8-0a2d-4629-8791-0d100b440359 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5769092-0cdc-477d-8258-657c703815a7 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1794c6b-a735-4043-b492-c7445b20586e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76e0952a-acc2-4206-b355-121927c89cda phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b3b4907-7595-4ba3-9096-2f5a55bc77a8 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd770b2b-eb22-4af7-9369-4d59882b3b0b phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a07ee1f9-fe53-4064-a1cc-b7f7a1ffdef3 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ad3c4aa-88a8-4733-8fa4-3d8b25ded4a4 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72a83f95-4bd3-4c31-b367-2b6a4ee25bbf phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:879ca587-76bc-4c06-b669-a10e4a4d7aa3 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa02871a-cf0e-4e35-81de-94876217f178 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8685a809-6c58-4c6e-8f8e-203cb00c6a72 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9565910-4f06-4628-bea8-af5036076ec4 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52c6ec4e-6da6-4f45-ab99-791f64786e4e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a92ffb65-eba3-465b-8729-b2c791453025 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad3f3cc5-24df-4d80-bd51-681b77dbfae4 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2d165d57-e0e1-4c82-8119-5ea45a3eadff phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a2fb4d3-1a6f-4393-87df-4c085a124aad phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ded9bdef-6ba5-476f-ac95-f3c3f6780245 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49adeeaa-ed63-42bd-a78f-9cca69ace21b phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38c82e72-85ae-4edf-af6d-9c33fe2a73fe phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:41668607-5259-40c3-91c5-30e56339529d phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e52aef4d-4537-4f0c-bb59-21c5a13e2cfd phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4df0c966-d082-49f1-b35b-ade7b8441776 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d6ffb4d-f535-4457-ad2c-fe4fc04fbe8d phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef561f36-a72b-4fbc-953d-9b5e21713d0b phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f81020fe-588f-455c-8ab5-ac5b9d9a0c96 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:308efd9e-7e8b-478d-af07-22ca68780a6e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c11156cf-12bf-4c9a-a687-d1addd9e81cb phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08c5d6ba-78eb-4ee8-b920-ed13cbd45216 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d0b186a-3156-4be1-9c30-a09355aa2a76 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f68e39b-c8ab-4986-b85a-5db8c68f2d3f phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c354cdb9-0895-4442-8a38-a7a9e56fab0a phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0cc3a587-c937-4482-8bda-5e07ae8681db phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67fdf7c3-0a25-4e34-b6e1-f83a72f2e322 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d89bd2fd-7720-434f-9a48-4c240f06d18e phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5197d55c-3050-4152-adab-e6df4ab3b5a0 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:100adb38-1fb9-4f59-9ba3-54bc52194816 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c815cddc-2312-4ab7-bff1-e84409b6301c phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4064db84-5600-4fb7-88e8-ff543f59e8be phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c1eae1e-8766-4945-8d37-28498851fd92 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:add495ab-0949-441d-9ddc-1584a0d07e6b phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:0c8cac02-640e-4b8a-ad7e-3a9b5c0c3b99 phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:8c8c808d-0872-431f-980c-83a1820a68a6 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5a07c2af-0512-41b6-9362-a099f385f2aa phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:499a962b-bcdc-43f9-ae86-25aa1e7c33e6 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ee73ffb6-0dae-4c94-b36c-26f3acc31c97 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b63a06af-1e80-4257-a5ba-9c52eba867ca phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b198faad-c85f-4d5b-ad61-49c0f7dc9ef5 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:04b49cb5-a96f-4af5-befe-4ca3fa49b068 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2c7d8c8e-6ba9-40f4-9191-1bdc37c39c36 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0ee3d589-9a15-4902-a3da-794467ba12d7 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ccd343f3-965a-4535-86fb-1d8c161b33c3 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f75ce24a-5f47-483d-aa4f-7fb9d4ba6032 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ad3847c-fd28-4fa8-baab-db721dde0f9b phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3ea31f92-d9c7-4fc5-902b-a1d2e8668479 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf56a04c-f897-45e8-a085-158aac6978cc phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7477daa2-f1ee-487f-88cd-702052d31d41 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4cdbff58-8d13-447c-a4e1-7fe0cdf315b1 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b71ea3b9-b60d-4ede-baf9-bce93978f34e phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3a32455-0f12-4423-ab0d-7f18a8a21003 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fdbb940c-1deb-4f17-a746-0636b2091f85 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d976fbc8-1198-469f-943c-d76fd42b388a phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7260cd13-1c2c-4ddd-b9c8-0c850bffcff2 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0fa29ddf-a2ed-4383-9e43-894345dc87be phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53024ee1-125b-4002-8bd0-effeb3e4c9aa phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b7530b6-9103-4c4d-a744-7a30aec22603 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06c5358d-c2bc-4328-996c-b050f0eace8c phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b395d337-e4fc-4ebc-94d4-22e51fe70a1c phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c08697c5-7b2c-46fc-abee-051605220ed0 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57f9f613-3ee7-4028-ac7c-7141c32dd022 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9987eec9-c04d-4ee2-ba94-69a04e2d56ef phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9f1fcc0-df6e-4c14-8257-81c34531f07d phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07485ff5-7be7-46e6-8331-4fb125966645 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c0a57b5-6b4f-444b-a21d-ca93b5a0854a phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b35a9432-4104-4228-a01e-985198f72e94 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:404959f3-3986-4a19-b4df-395cc3eafd1c phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aafeb01b-a373-4458-b3ce-e0e791a9b5a1 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bb19f73-d9f7-489b-aaa8-84c9356dcd61 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2674dd84-2222-44a1-9bb2-060a7cf6951f phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:828a8d91-4a84-4223-a48a-aaac91c4e741 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2432e6b-5efd-4f54-88f3-b0b4d5d35725 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e3c0173-1929-4f0f-b65c-f525ad2503db phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3162519b-3c3c-4f3a-91a2-65bbd9ef0d57 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ebdabc1-5528-4119-9049-da3d081efc4b phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:295324fa-1add-4640-a740-2026de7e65bd phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4dac9a8-06c4-4464-ad91-c17e8e437492 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:189f0e84-8f98-4c45-8193-bc726a36b14e phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a137684e-e209-4bd6-a7de-764d73a074ff phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb2ec275-64a3-4fb9-a81d-d191d7b3f6d0 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85558832-3920-433c-894a-fe48f9771536 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c55d1e1-bd52-4378-91b7-9a5bc1c32cb7 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a53cde26-9e49-489f-ba03-98b608c2c6aa phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d5c20db-0f56-4113-986b-2cd0360ecff6 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4ef0fce-cd0c-41b1-b874-332b36716332 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bae7b1dd-d907-4634-8f32-39943d21aea5 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c9bd370-9e56-46f0-ab98-0c4604b8b7fa phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5361e170-74ad-4ea7-9127-577fa6a4f508 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d319469a-7110-486d-8193-39ab0c6bb802 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90000dce-925c-42bb-add3-388a8df74598 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bdf9dd29-0c04-49dc-bc86-1ac51d571ec6 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3108306-604d-435a-a4e7-85591d6ce4af phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20f7b2ec-d126-4693-8d29-eacecc6776e2 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8eb41149-bf54-4904-80cf-b6db8f079200 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2edd7802-2b00-4786-a43f-1d6a31e47512 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b1bad6f6-e658-4826-af7e-18a3666b57d2 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8130a0d8-5095-4867-9f0f-c905f5b9f6c0 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b84e56ed-601e-4253-8e03-01abf94f2177 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cadeaf4-e87c-47c3-ad99-b1338e89ba05 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f5ad848-6a7c-4fe8-9545-09ae1c713210 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6191e785-5389-49e5-9d6b-f3e49a591a53 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04a5835b-7ca9-48ca-863d-a95b4523e922 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c4032046-e6c0-43ba-b1b5-3904da0a7ac1 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56491f15-7513-4a29-adf5-3239a83445e3 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:692377f8-cd00-4661-95a0-00de5890b173 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3911a3bb-ed5b-470b-a20f-703b04f94338 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34aea573-99f3-4a35-a898-2e21288558f8 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:736cf564-b637-4644-8f78-cd3008c3b7a1 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d21f428-b119-4f06-b5e8-4b0caa8d10b1 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3c2cbdb-ba97-4c43-b774-7da79912d804 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e57d7615-8be4-460d-91eb-5783029d0cd5 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d138d64d-cae1-4ac7-a7fc-79e3aef0f7e1 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0a8af24-7731-4eb7-aed9-33236e11ca26 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f181bd7e-da54-47da-a8e9-7bd61cef5d29 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e995304-234f-4252-82fd-79cbef539acb phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92a3f255-19ed-4a94-a226-a1b4733a9d7d phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a441f69-8b02-4c32-ba43-7998b1c3457d phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:05249667-60ba-49db-9c7f-a2932b7c77e5 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2eb76209-30b9-4001-b8f8-eecbde1b5d7d phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33fe77db-f494-4aac-8baa-874619a6f38f phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd4fa7d8-d721-444d-a8fa-f66ab047921e phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af9ad8bf-0b0c-4ab8-bb95-dcc1e192a1b7 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:78646129-11c9-439c-997f-16311ee641bb phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6dbc8e12-6d66-4a65-b6b8-8f0725ca746e phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ce325d1-3eb7-4931-ab59-f5ee0e6b1152 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47d609c5-b5b6-44d8-925f-c324cab7af44 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b783c978-084b-4791-b877-19056b733536 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c302202-f8a9-41e6-b435-3dcd68a8307f phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88c25c5f-38cc-469f-b3fc-ed46f3327102 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef377a83-be8c-48f8-bf8f-e5864437ec22 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37c79aa2-e2f6-484e-b654-645321174f08 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b7be009-4ac2-4b88-b978-f6e1973c4a0b phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1109c9e1-02d8-47ce-b5dc-b1fc9376cdbf phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:27a9a034-749b-4076-afb0-ed01aa0933b0 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11f157a5-0ed2-4fd5-8996-c8d60cfc0571 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:1718c285-7e1d-410d-95af-f203a3e7e0d9 phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:d1bf8432-9cf1-4a07-b55b-b17ae0e91af4 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a36d43ed-9fbc-4d6f-8bd4-0e57d872bc01 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e5882fb6-aa1e-4e62-95be-714e66738d6e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fab0cf89-6f5c-407a-8fa2-adf80dd36a06 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:382ae65e-f7d5-45eb-8c96-886af8e95c5f phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dc1b6582-b62b-4672-bda8-a3ac1c2a07fd phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3048346d-4350-4677-92ab-780bc7f000a3 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d0a602ca-845f-4cf0-8901-97507cbdb0e0 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a2ce480a-3948-49e4-a928-a710e67efd40 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:991f6e33-f21d-4fef-a849-2951284f18d9 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fe6ae1be-827c-42ea-8b33-9279bb54a123 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c841fec8-1f1b-4a0a-829c-41cc8771617e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:91d32006-7127-4777-81ce-1d3050a4656c phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dcfde8bf-45d8-404c-8c97-cb960db27623 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d0e6f0f0-b9dc-4c26-a69e-ae3f03161a1d phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5125e678-56b3-4e09-865e-e65e1799f3a5 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96be7cfd-ca18-4651-8003-a414c84abbf3 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71fe8cad-5205-4cd0-86e3-5ca184bc85d9 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9cbecb3e-3f46-403e-8617-8b60a9dc4efd phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7ed6550-08a3-47f6-9e9e-3413ef0bae5d phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34486f83-0567-4a67-8001-a9004d4f33fe phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd5cfbfb-77c2-4e59-8454-f6a48899e238 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72e86a4a-a7aa-435a-8535-2a1456719525 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1bf93a57-a871-488b-9642-16a78d899a4b phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e8f54e0-599f-494d-99d7-6d78251b4323 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:367bb04f-8368-4647-8ab1-fa3c75f0ab82 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58a1f807-d64f-4ca1-a019-360844769e11 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f92f4e25-5561-4081-9e37-873aeaf00b44 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55722ccc-e32c-4a4d-886f-671de1b03ea3 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:27e92503-e2ae-4d9e-9d41-ce9d01104381 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed71f465-3b57-48df-9222-a9db252bc99e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d5a9ced-bcaf-4ab5-a6b3-66a7b36ac081 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9736958f-6c08-4530-9867-f5ce5da0868e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae824f9d-04a1-4cf2-976e-184c7720d8c2 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea2e64f8-051f-494f-967c-3a698bffd8d0 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09e902e8-8017-4d2d-818d-742b6c1c7e36 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9c384ac-a404-4426-a1ce-44a0bcd2b406 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3dc84c95-82c2-4eea-83de-b38ec7d2ab56 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4702fdce-f1a6-454c-a505-a6a37671ea67 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53f21249-a85e-403b-974b-c5958ddd8133 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f7d71333-0c0b-4447-8100-e83c4cdb22b1 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc556b98-4570-4bcb-803b-4170494194b2 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97c0c301-6aff-41b1-80a5-de4589f0bb14 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b71023a-54c6-491d-8479-910f4d25783b phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d6bbf64-1a54-421b-bae8-85c9b666e100 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b178ad4-0e61-4c90-89aa-f6155562edf1 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:696d959f-4ebb-45c6-8e4a-bc7fb413251c phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17dbdb43-173b-43ba-a042-f532ed54c811 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc7ef356-fcfd-4d6b-be7a-e33176331d11 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:560a3306-9b89-4eaf-b217-2fa01f1a89f7 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2e66951-5131-4cb5-840d-bde116295d93 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83a1d743-6378-4bda-8a28-5b0b5a5d1032 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2a75544-3c82-4f88-a31d-3cf87accfc8e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88523f4f-7e22-451c-9575-af2aec217905 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae125094-9b6f-4afa-9385-f4914e1ddd1f phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a9a02ee4-bce9-4b05-a8ed-004dd2131b37 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f297438-d696-4cf5-a228-4d3996acaac5 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bba37e6d-5470-4174-920a-bcfe9c2655f0 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99082b39-e65a-4e57-a503-c23da81d890b phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d9f44e6-05fd-4320-b6c5-be491d659544 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15cbf4bc-d397-4f99-885a-fed46da36338 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9017289b-cfb7-4838-b8f5-af686d4012f6 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7312ed88-36c7-4afb-8fb8-277a5788e186 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e6d3331-7478-41ad-b3a9-28b57fd21543 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e601685-7845-453c-bf8f-5a72bdfc5389 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9fa3a28-9f7c-456f-aa6c-e5d0b6675f67 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55b2c0dd-4fbf-4cd5-9a30-cb8400260d0b phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f596a5e9-0234-4ade-90d5-1288dfbf6f37 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:067a5c13-f3db-40b1-802f-21fdd9cf20b1 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc045ac1-a643-49c5-ab6c-69ae7651634b phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f42c9c8-d9f1-48b3-9e98-43bea719e8df phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6048caba-0b76-4e51-af49-be93c9891835 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34d3cbe4-5e81-4c23-8833-3c0a4e23dc1d phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:578cabf6-10d0-457b-8247-e106b08ce402 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5bf4792d-ab70-4034-a968-177670c93503 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d77820c9-f4bd-461f-92fd-2604eb41c6e4 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47254ab0-b29c-40c6-b611-868f93919f88 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0976877f-e9e3-424e-8e42-640b11ca1771 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9aba4c40-bb87-4610-bbae-ca88b55ca531 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1741e7a8-e199-4d37-9b12-209cac31157e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8956f8b1-9950-46d6-9586-84a4f591a39d phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4d6652c8-0697-4c61-a442-353d3d593968 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0d26c9bb-ef64-4f8b-8072-4f66e13e4b62 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e43c154a-dbaa-4304-a7d2-afe77de33085 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38209ec7-be56-496f-8064-7d7142155ecd phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c6e983e2-93b7-4f0e-abff-5c9659fd1008 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bc7c083-81d5-4b85-a74b-7ff0c55f7390 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abd97cae-87d7-4416-bdb1-6fb682d6f31f phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b6ac937a-68cf-472e-807e-44df2dccca01 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ac3cec98-f483-4ad3-a3d4-1f60c93ebdff phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c8b650b-d678-431e-b562-cbb9772c0898 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f00373e-48ba-4601-82e9-95d64365cdf7 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc9b758d-7329-49ca-9e0d-c640f183e39e phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10c22c58-e12e-4b0e-87b3-08dce01dc3b0 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c275476-c835-425e-b587-901857ea8ad1 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea983c71-2a25-4ea7-9f56-f50839aa806a phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd224dbd-6173-4602-ad3f-5dffee07c790 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:500fcaea-ac12-47ab-a1f7-545c37c563cc phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:75b0b224-b1cb-4c9d-83e1-f202390aa0c3 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77ae6721-3dda-4c63-bb82-db613f1f6c9b phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc8b5a26-ba06-4fb2-8da0-3b4a00ba96db phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a6f236ed-d26e-4ab0-bcf8-8ecef291bc05 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:2c259055-706e-40a8-9380-cc6f01869ac6 phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:9495322d-a85f-4347-a5ea-141100573aa9 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4ab9d3cb-6b8f-44e2-b4dc-ca8b702daef9 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cd3eff09-2398-447e-bc16-f6c8134e776c phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2ebb6779-0d35-4723-b54e-86cd657c2a02 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9338b929-2764-4807-aa25-7e8894f67a85 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e4c2d6f5-ea53-4029-a641-d36d8d88030d phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b2784b16-2e95-4c4f-9d94-f8eb2fba5f63 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9977582f-9782-4e1f-9f61-ae81d33bd958 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8ec7c6ca-799d-4a64-a737-48e1869b2878 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0a0d5fbf-4194-4eef-b458-7c775862a0e0 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e4e8e3c8-cef6-4b90-b44e-e477b58aca9d phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:99106432-c5bf-462e-b09c-469eb34ccfbe phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f5e2182e-b829-4b0c-ab13-ed3b8fa42793 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:daf28bb2-9a30-4314-9f5a-9340d9911b67 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:038a044e-d9c3-4eab-a5ce-ff0c43d79978 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2eb34397-1624-4ca9-9c17-8c3fde10ff1f phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:911e651b-1897-4f09-802a-5f07967d4bc8 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25d95ddf-364f-4474-9e89-b5da76d3267a phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6043fad1-acdd-4bc5-b2d1-825aeadf8572 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95932786-bddd-467c-bd51-ca630b219770 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2536c03d-4ad6-4d7d-bf12-8dede27f8a7f phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26503cc6-c16a-48d6-bec3-310fa4c4be1e phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e7c889b-31ac-4b8f-ac35-7ddf98304eb2 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7e18c5f-4964-4bae-81aa-2247d892b407 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e552ccd-341b-4470-8515-b96932992d75 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc8ae0df-e280-41cb-8a76-465749d330a0 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d94d5541-ca5e-4b2d-9e13-f09f7888a002 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6794d96a-0f38-4776-9e79-c1dfa2c050a1 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3aab6e23-dc70-4bd7-8b6d-17846ebd63bb phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12650bc7-cfdf-40a1-82dd-7daf9cda7d6b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9138b4e8-e8c7-4f89-a25b-61fc977acc64 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:608ce33c-0232-4cfb-87e3-2f7e0e618503 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eac25840-728d-4a4c-9286-850f1a44348d phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8f63594-ed6c-4a53-b927-c2193b42f965 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49971ecc-c6b4-4ead-87d7-eb83599571f5 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7413edc6-b628-42b9-b89c-ab633951b178 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a5dc4c7-ea33-48e3-a765-bfdee011d82f phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c4136ea-1739-489d-8425-a83869b89d43 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64fdb04c-1f2f-4bb7-86ac-abf45e87b48d phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95b84820-a982-46db-a70c-c3189085017b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:224587b9-8c58-47bc-9285-83164b2d8b94 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:440cc1e2-70e7-4c55-af67-05250bd0e174 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbe0e141-ce90-4476-94b8-3a8af29a8729 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:89ec194a-ca85-4e92-b414-b571d9a88e7f phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7409a18-281b-4597-b0c7-d6f1508283a6 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f64ac8d-816a-41a5-9c93-3f3dcc3a2fe3 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20bf7c40-a56a-4bbf-9e2c-f9c3e12ea586 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c50dee10-fc8e-4a68-a6e8-3c8df07671d1 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:976ebd40-39ff-4d9a-87c8-598d751e49a7 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17e0e82c-b58d-4d3b-b4fe-827900c29b3b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11df40f6-0a08-4749-afc0-7aa548ffdc9e phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38f08770-27da-4ae6-8e1d-659bfbd82f28 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de10177d-8c4a-4516-ae34-3b3860b387af phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5532023d-a061-42cf-bf83-131b584ea981 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7dbfbd69-a6b0-4f8d-bd3f-442d5d3ec0db phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5b597fc-0822-44d0-920a-8177d561244b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29ed610d-f8a9-42c8-abcc-68070d60653e phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dfd33ab3-eec8-4441-9d28-cc16b384d0a1 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2cc68e25-8763-441a-ae4c-f94a783195eb phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bbc7df8-055f-48c6-996e-7e65e43cb747 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f66a1e4-58de-4b4b-bec8-f476bef7057b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bc3884d-9069-4eab-95b0-e78470391d79 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c800392-62eb-400f-b087-54858b101592 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e4cc185-e9ff-46c7-a486-be3b4cc3a9d2 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bdbaf42-9eda-4eef-96d2-ab65cf55d2b3 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ebe6ac90-e78e-4467-933d-b1c1a6ecd2ee phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15206a0d-1fc1-40f2-a7fb-9eda8eb6375c phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60ed2cbd-ef3f-4c63-8923-e96cf9c90348 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2cce3599-905c-45cf-b1fe-ff5d521d282c phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c69b121-554f-4068-bf96-12ffecf51a0e phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc5661d4-e0be-4538-ba1b-b98548d33bcb phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bab75a8-972f-484d-aac6-4e389e142b7c phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:869c622f-b7ca-4143-8227-b05b1abfc9ba phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b014510e-b7a9-4a60-ae87-81cbc397d077 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e96ad5c5-071f-4430-8ea5-184f06567c4b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:184e00ed-96b8-4a2c-81f8-00c292463741 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82a804d8-7871-4100-b3d2-9d6a594f66d0 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:100f4401-2f2b-4290-b8fd-c6004eb4d164 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4bc7f8c4-d36e-4fec-85be-8220980f6b43 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc5422c4-d3b0-4c29-a5b8-0b237c4debbe phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36488220-faf1-410f-9bc7-24a7701468a1 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:804592d7-ff6e-4a49-9b17-245936637ebe phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b0f4b5c-57c7-4bf3-b7d8-16a3fc475d51 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:238968eb-fbcc-4b67-a8d7-55091934ee13 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:892abcfc-6536-4c7a-8f7b-de3c8f00a7d8 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:765b0fd7-913c-4eba-ad36-527aa35c8d77 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a499796b-1067-456d-b531-e3b84559993d phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8da8fd10-41b7-4097-a850-be7308adf5f2 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a6705bf-cab1-48d4-8392-690569e69135 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e0b25a5-32e1-471c-adae-93f659b964db phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38c73027-930d-468b-8185-5c5ffffa7d16 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:418f9e5f-6c6a-47ec-bc4f-c5c31ff14006 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b8dc50d-a3f4-4e49-852a-4881d6e8289e phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b003afaf-8084-47bd-b92c-25c44d03740b phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44f291fd-187c-431e-ba5e-c06a0a522da2 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e08f431-e625-495a-bf70-16b1a93e6ce0 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e211f77-c926-4eed-a7b2-53fe19565fe6 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae75bd85-e4c0-4236-8346-6157b6cd0595 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2bc98c8b-5c8e-4415-8711-d2ee48588d30 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96f58c61-1e3a-4760-9c09-714ec8f7249e phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e9c3e0a-49bf-4751-a6b6-ba09d58e0997 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd365acf-ddf1-45c0-8f7f-403986be5be0 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:670a8965-a129-4331-ba68-371cc3a3a922 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ff9c324-841f-4b46-b50e-4e2b563e88b7 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:8396209d-31f0-4eb7-a3ee-ace4510f18f6 phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:6df807e3-e12e-4ffd-8dd0-bf25052e213c phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:94267ee1-1a5c-4883-90d7-18a6cb975d95 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0744c058-1a12-49d2-8bec-0fe9e8e4626a phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:31e31367-9122-4b15-bb49-328afcbb7ee4 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2c2bdf56-4b6b-41e7-a99e-c544db94b5af phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1b8fb1b6-6d21-43e8-93ec-56b999922e85 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:01437d8d-f161-4080-af73-7de3e857db29 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c1c71bcf-56ea-4314-968f-3177e70c7280 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2e9c68b2-22b8-4a57-a05a-2c3a4fdc6512 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a3935358-bc0b-4d33-aa30-3a4b301a2340 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4c8575d4-3ded-4761-b697-767cf44446bb phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0d4a2d25-22e9-48cd-969d-47dff462361b phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cbc82663-8f76-4ed2-922d-2dc2588d8169 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1136ffdd-c262-4128-acd4-cd4a7d8f2ef9 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0aeb048-f16f-48b5-9100-596794bf43ce phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ba26525-607d-490d-b67f-9be469ddd550 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c706c3e-b297-4ef2-9c90-4030cad9b364 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0481e320-7ed5-4c61-bdea-2e6c3f1977b8 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aba717c8-9017-46dc-8bd2-6b18f74deae0 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:553dcdfd-c84d-4c80-91ec-2b90178c2eb3 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ea969c73-f04c-4100-a97f-e00a3d63d1a5 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21e1d200-5114-4761-bcfc-d8178cce4303 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7c90b1b-54f2-4a9d-abf0-357655ea03a0 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f1775cc-101c-459f-94b0-036a2f599c83 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:914a4a32-b7f8-4327-9832-0eaf2dd4e037 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36d08644-5be9-4042-98c2-5b0dd1f6598c phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8dd86181-023b-4e49-be6e-9395ac68d645 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c8b6958-69b9-4806-bda9-dbff65958dc9 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07edf405-1471-4502-9e63-eb4e5341a952 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab27203b-1f4d-43ae-a492-d5b0164c4b22 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf71f4da-4af6-4ae6-9b02-0d409a3d78fe phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da68901a-5118-4f95-8bc2-e53280d5e9df phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e319ad6-1e30-4daf-8621-d46d4c07a119 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a1e4efc8-bae6-4003-8868-c793f1d5d2e6 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63bf88fd-2618-49c3-b050-da8b0a023203 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8db51e90-1795-432e-86b0-66578297bcfb phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15f6f1ac-1209-470e-b951-09d292cdd2e3 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2498cf37-8552-451d-9609-1f7829db04d8 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c03762f-7223-4e8b-b848-94cfd9ae180b phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2fedec76-ec73-4205-96d4-98d8e99ca046 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db417fba-a4ee-41d0-ab63-1cf9db2b1b70 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f71c79c-9493-4017-a76f-1fc3a55689d8 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5945696e-63c3-402f-9611-a83a524d24fa phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c34e5cc9-48d5-403b-bbed-b96b48cba6cc phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7d5ba2e-cf64-493c-a8a3-720c948b0419 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af927be9-f829-4a1f-9249-4d3f00eb8d30 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7af694ac-83e7-426d-9a77-f59844b3c2ce phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd0fa640-9ca4-4f47-a07b-cc55e3005362 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63c4b56c-012d-40bc-94ff-6f185fff37b5 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:631b76b2-2e32-4c82-8945-56a1b5580311 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74bd7800-0230-47f5-883b-4e832ed02f31 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67fc6a63-f9cf-4434-afa1-189fb652853c phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc732f19-520a-4216-9988-e81fef139888 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe4c0130-0105-44e5-9df9-272ab3289719 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:def492d0-ea55-4c05-ae79-c41f45973a82 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c096b45f-076f-42bf-9d09-7576fb14057d phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16d24da8-939d-4449-9b1d-7d782c9ce228 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0fca4a85-19a2-4932-ac48-5a8f2dfc1ae3 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96eba021-ce68-4c6c-bff6-336bbc245d64 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:844d9485-b936-4d96-8eee-2094d22d7ea3 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e846e1b6-add2-4dd0-b619-12ea14764343 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0883494c-f168-4416-aee3-92fc1252cfa3 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:284b622c-f057-48e3-9399-9a8ff750165b phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eff29fbb-fed1-44e0-a6b5-6ce2f952c39a phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:02329f4d-cdce-457b-a018-e2ae73d36647 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eebc300e-b362-45a5-a2f9-09d9c75e79bc phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9188fd89-5cda-403a-8516-8399ee0b3ea4 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46ac1a24-0a82-4e05-8f79-7129bf3be79c phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b10ef1eb-4b4e-44a2-92fc-b1dfd4a77687 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c97de15-2b5b-4c93-9a4c-8f01903db6cf phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e66e8369-b6db-42a5-8281-e4519fdab17a phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:03065840-9da5-4931-b924-ec0c1bb7bdcd phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa489c09-73c7-48e7-8809-bb3f25ae02f3 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e5dcdc73-2f11-4bef-99dc-a3ea266d94c6 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fb36303-3728-44d5-a9fa-6cd1ebf32a85 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e74ef6d2-1577-4859-9b7d-3a835bdd6de4 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a4462b6-4970-4c5e-a79c-e0fe2265a4ed phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0049c71d-836b-48bc-94fb-cfacb8eb9da1 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6337c46f-8fb7-4d59-8662-3dfb00ac06e4 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7054363f-beb9-44e0-ab4f-ac911f64bf3e phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c55cfa1-bce8-4790-bb7c-aef504a100dd phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3791d817-6f77-4ef9-a372-9f1fd0d3a685 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd2677b3-33b4-4de4-a326-0ad92aa954e5 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e52a0e7b-2bb2-4ea3-8385-711a859ed3e7 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68ae941f-05f1-4c90-b5bc-dbf1f8a11548 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:229f4676-3267-4b53-b87b-9a39f60b2636 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d2800c9-9fcf-434e-b6b3-4f1bafdd87bb phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:43f82fcc-f94a-442b-b228-51845a334d32 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:668749a0-4562-405f-b522-79b7ca304155 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:830e634f-4298-4f4f-9b7c-7f0e4416364b phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2ce40fb-91dd-4d4d-95dd-7556b8498800 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79516e60-a85c-4846-b020-7579ce9ecccc phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96023d36-125c-4407-99d7-306adf5b954d phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84204317-f1e2-494c-9a5c-ffca6d85b842 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e31bdb7d-af7b-4ec6-a9f3-5fb94c76e251 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:32d5451e-58df-44a1-8e4f-bdfc076c962f phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da3ef9ff-55b2-43ac-91e7-d7f998eb4b89 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b1ed3e3-9c43-4bbf-8d1f-c193fe831e17 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8fddecb-0607-4da7-b15e-9d7a64772879 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b71fc749-447a-4554-ad47-91768e8b5341 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4f5deb2-d1a6-49a8-bda7-d442128d7689 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a696fc84-03da-4e51-a6d3-4d35fd5d427f phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3eef099-da06-498c-80d2-6d94dc0d5fde phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:660ee3de-1636-4193-8e80-57c3170332e5 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cea20dc0-721a-4f65-9062-842f45cb1d05 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f649af9-bdb2-43dc-90de-64e88fc7f070 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f376004-f021-4288-b88b-8981720cfe38 phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:ceceb72d-f0e2-4272-8083-1e97266c7dfe phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:aa8ed93c-7674-4fde-b212-7de5d2c081f7 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8280cb53-dc5a-402d-a08d-399cb778e4a5 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7d798f4b-6f08-43f5-bca6-90fd8ed70748 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a79a4903-a9fb-4b15-9994-3e4f7f82edaf phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:120bb93f-8700-4197-b6a9-e4ba02f92c8d phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3d24cd23-154c-4f30-80c1-868f6cf69e85 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3196dd96-e075-4c34-85dc-1a93281bdf53 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f810f9b4-3136-422d-9c8a-eb07dabea0f1 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ccfcbb0f-1f22-4f57-a4e3-2ae112f04886 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b90d1dce-43c2-47c0-8024-20c1bf6da146 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:699d7ca6-02c6-491a-b537-91dcf45d08e9 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7a377aef-e0c2-455f-8537-59279cdcb33c phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3e28fad6-ba39-48f1-ada6-9f333e187591 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24bb8c1a-50e5-42e0-a201-934b4b768175 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17b05490-12b0-470f-950f-4cbb51c89b9d phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc61f6f4-ea15-40e3-a152-224abd5a2ff4 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e61c1c0-8e90-4c02-8ffc-255ddf61402e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd2a89f9-ae92-4115-900f-c814fddec442 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb4dd7b4-2478-4227-940c-07cdaa486de7 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b48e241d-f9ba-43b8-99fb-9a477ac1720b phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0a36873-69ba-41c3-a222-f039e600e880 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01921943-0083-4c63-a565-874f474a99e2 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:445478e9-34bd-487a-bd38-b094415b84c0 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2502c6f4-a6b5-4b08-9a12-a2e1ff5d9e38 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e8cc9f8-575b-41bd-83b8-538c4a7d716e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f554e84-c70e-4661-96d6-10142a11c35f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c389ece-a8b7-442d-abb8-429b40d4e203 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d8d17511-322c-45cc-aa32-7d35a3f2d7ca phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d06ab62a-6ebd-4e59-ba7a-77b5915c4882 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:42ba527c-753c-4f3f-88e2-ae72c56f6f3e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6eb77b49-853d-44b5-bb9a-d8669c734b1e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0556f30f-6d28-4c08-aacb-44a1ba17202f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85171fe9-99de-40a8-8676-f9053ada924f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:89806708-be11-4251-8243-6c4ef0b7265a phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:420f03ca-c924-46e6-b484-d8b2dbf9162a phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd8df699-65fe-469b-aa52-f1ee6433b033 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e32c8577-f351-4f6b-8bf3-0656c3737642 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8dd70f4e-29fa-4424-8d7a-facd20b646b6 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17b138ef-a00b-43e7-a14e-3d4438c41946 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c8146a97-b295-4a6b-bfd4-f6d2d20b78ac phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b8d9dc1-3bdb-4bef-afe4-4e21169e86a0 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1830b078-e131-4fc4-a1aa-8c83cc5d94cb phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f394c0f7-7db2-41b1-9060-c7d45e527959 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca23abdc-f732-4c62-97d3-d8d5d62f0e31 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:246f7394-1583-47d5-9a56-5d11570860fb phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:956d05b4-dd07-42ed-b216-e68388615d7e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:197e5ec8-4a13-4696-9e17-173958db2040 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7916e544-f8bf-4c83-9171-2f9fe876af1f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c21e2660-315a-446b-82af-7617ffdf68fb phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9633948-283d-4310-aa32-148a45ec1028 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2ff55408-a5be-4b11-b54d-fb09e6ec4899 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1906cbfd-ee50-4025-8a99-10a39ad4ac98 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a19c8243-290c-47f0-8989-63e9b3db6e4c phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f6227e3-9d9c-47ec-8043-c35142f84d2e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9a5a7fa-15c9-4f3c-8006-435398c311a5 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:91bbe7a7-7d5b-49fc-957a-da2bc8374849 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8063b9d-877b-44be-b43e-9656719ac72b phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c89f0bc-4414-4f9b-94ac-19999660d99f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b399207f-053d-429e-8c0f-df1faa2c051a phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f73f9a81-1247-4bf0-8c30-8ff7491ac19a phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86f83a59-0984-4117-9689-323fae591493 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e2b974c-f3e7-49bf-a3da-ed159d60c1ef phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5e05fdc7-cef2-4119-8809-d55cdc3f1aa7 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:286f0e60-d374-456a-91dd-cacc4127ea75 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e36beb6b-1fbc-4272-90a2-794c76e92a27 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7725a992-4279-4365-97d6-85c8acbb8924 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d14a46b0-23fa-474b-aaf9-eef0256df3e8 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9136110-897e-4cf8-b425-d45a2d63659e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09331839-b4b2-4060-8111-97e2a0c48f5c phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a00c540f-176a-42a9-bf8e-90ffa413e2ea phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a35d759-a15b-47a0-9e5a-2f714adb1423 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a92f808b-fa78-4a27-af77-d7fa725b4e59 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66bbdb22-5098-4829-afa6-13e01a9193ba phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0aaf0b18-eb8d-4e48-b795-3b75bfdee249 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9dc104ef-b561-476a-94c1-fee704d74426 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d9a99633-63d1-41ab-a70e-fe4854a0419c phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d778d4b3-b616-4bcb-b78a-b2ad80f89d46 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62fb38c7-b57e-4ac7-ad6e-9d593b251b61 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b5eb216-bec1-4b84-b42c-0e9510517e19 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b2e046f-a6f9-44a0-a4dd-8d37c1289ac0 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d4852cad-d76d-44fa-84df-93eade408924 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87a0ff89-efa7-4bb0-8701-168315de6152 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35723112-cc8a-4c36-ab3b-c3716d45fd31 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eaac757a-22cc-42d2-90d3-84030d251a2e phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5113a07-bca4-4dc1-a0eb-ce64c65b6d41 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c7a919d-30e0-495a-b4d3-0fd78e1c0edf phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b23244cc-7a04-444a-bf2b-6fa9f509587b phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee0d2746-87db-4db8-a6c6-b8db4c78866b phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc012931-95bc-4824-a4bd-1c02e8a3cc16 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62e7debb-2bf3-4203-814e-0a72843fa65f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0490cd7-d59f-4577-8d0f-fe2841152ab6 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f69c68ba-bcaf-4b95-ac90-aa129af1c005 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b8a97cc-5d42-4bae-a632-18beb6f27207 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3dd4aa12-6949-4201-a930-cf78da66ef26 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63cdef5c-a0d7-46db-b56d-46c970133a7f phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e53a1d46-7955-4464-81e8-342b7cc2e6aa phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:692cba45-5b35-48a4-ada7-99093ebe066d phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6ad81da-3516-401f-b816-aec4f0052407 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16f3090f-e9ad-4e44-8e56-338ecdaf67e5 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23bc2f1d-012e-481e-b472-5c680d781af3 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34899eab-8e4c-47ec-8e8a-0b0bded2ec82 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48dc49a3-2a19-4aba-91f1-7049201a2d53 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ec7eaa1-cf2f-407b-9841-addcf1a979ba phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:384d4b14-2efb-4059-93a0-6fde8d646d65 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df2c9962-370a-4462-a240-70f121f76b88 phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:7888a0f2-e940-44b4-8844-748bd74cea9d phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:7995170d-a0e2-409d-aa42-29be3fc9c1e4 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5863a680-2222-4e9c-b4e7-255282efe824 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6841beeb-c618-4728-ac7b-5b7da3d3188b phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cdabd90f-8334-4c1b-9777-9ed22190b507 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c7b26ac9-c2a4-4f95-83e5-184ecf70542c phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7bfb2fb9-4f87-4c4a-a067-2343eaa535b6 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0cb71e53-c946-44ba-82c1-2e58d11d3375 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7536feea-84b2-496d-84ef-4ad23f337221 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b6c36309-f87c-4fdc-b985-15e506400181 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:846f0e46-0e46-497f-8604-6bebdc908819 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:198b5761-fc9b-4a42-9810-913368d41cb4 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7dc2ebe3-8060-42d4-99c3-3ae086689190 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d6173fd-d4b4-4e0f-9f43-d5e9d44918da phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:745291d4-9df4-4a11-9ee2-9d147ec5e3ea phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e097909e-6364-41fa-a47f-385f8d30e3a0 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:31fd8098-e456-4554-aa5b-17a5d247ab98 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77c17f50-5686-4e9a-8b24-36cf9fd566d7 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:03cd5a3e-5992-4a70-8c52-b2ff900bda25 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e85bdeb2-b35a-4400-80cd-63fe421210c9 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fedd2997-ec72-48cb-a51e-dd5df6bc406f phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2e425c49-1e96-44e2-bba8-ab0b0575d8d0 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b47a8ca3-5416-4ef6-8000-ddd121eb9217 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:19148e40-3773-4d0e-848e-8efa4288d102 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7aeebab2-2789-4b8a-8cef-f49fb8c87721 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ffdca5e4-61a5-4d99-b801-f6e4c3073fb5 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2077d8da-2355-47bf-970f-8383da6f19bb phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61fdd64f-0c73-4c81-884a-b067999a17e0 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd70b7c9-4930-4be6-b4c2-50254cf50a13 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1799a3d6-250d-4a78-8966-31a288db5a1f phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9cebc78a-eaa2-4ce6-807c-e8e9ba31b297 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd3af050-1ab1-487f-b963-40a306046bf3 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5db6cd2e-ccd1-4506-bd9e-a59a234fee01 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:678f1798-7e69-4fb1-9b2e-d292d60ab66d phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c033d465-70e1-48da-9607-939e49d3b7cd phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f7fc48bc-9835-44fe-a2f2-cb83e0f93eef phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df721c7f-9f92-4e68-a666-7b786e73ece3 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c916552-146d-469a-892d-3d5a482120f1 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eebf9311-72c2-409b-af83-8b7d86707903 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9ec01de-d4b4-4dfc-8a44-9f7ebcd3b4cb phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f04d4ed7-62f4-4f5a-948e-37e4d173a241 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c396bc1f-4fc6-4f3e-8991-7d4bd4ea7d63 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d80d41f-1267-4434-93e1-2fba17c8b4c7 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de695cea-1c3c-48e0-ad7d-9e3f39d68e0c phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5655627-55ef-408c-9fb6-bfd0a7badc81 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:afe66de0-a0d4-4a2e-bf6e-b0943df08d5d phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d61b915-5c2b-4790-bdcd-22ba6a62e84a phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92fa6007-7c24-4432-b69a-d0d1a04db3c5 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56c284ff-6965-4d81-8f43-1548ef5ec2f1 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0999aa3e-5589-4f2c-bf5a-c787a48f499a phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8da68359-7a6b-4ed0-b2e0-3e0fa253c514 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:502ae109-9840-4931-aa73-ad16e5630f24 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a679829f-4afc-47e7-bece-7fda90f254cf phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08bf2254-9222-4cbe-936e-d2a8dbafcb12 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:778c1395-1101-4853-9040-dee0fbe8831c phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:775a9d99-e27e-4b7a-9909-f4a1f078b693 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a50e8c1-bfd4-46ff-a8ee-a049b08f43e5 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83d3bdac-e9fc-406a-ab0a-fe1114a61632 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:befd8f27-12e8-49ce-b9c0-150edaf039bc phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64a528ee-029d-445b-933d-92eee2121461 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f806cfc2-e7e1-4887-b30c-0c2e96197751 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fea31bb-b4cf-4e7e-b820-0d9104987c66 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a33d0dc6-0e59-4fd2-8512-f262a4c20558 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af5ad83b-6062-46d8-8bb6-96391efc7315 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e1d7c5f-8185-45d8-aec5-7ec6c51c1f1b phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:848ceded-7d8e-4748-be9b-18addf033fb7 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:106e30d3-f145-4bb5-9ccd-f19666766de2 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e425fff-321a-4ffe-88b2-9ae40c11a388 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:635de65b-26ee-4529-91ca-296ec935dab2 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a768c30c-7889-4cb5-ad50-73cbde1b701c phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9d5396f1-dd90-497c-9072-ff13a2081be3 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:501774d9-6769-4f78-8b2c-9339d88b9922 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:881c5002-7406-4af9-87cb-0d9b255decb8 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d38946a5-7790-4f80-879b-7147e5e29116 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84eaf42a-e9f9-4c57-beda-58b4592b0dd0 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfd8c00d-0127-49ed-9772-a0edf2cfb360 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a76ca3a-bb86-41f5-addc-f985e64ad6e3 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd6d6c0d-4fe7-486a-ba44-a229287634d7 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68ec6697-2331-4428-b321-f61d0fb593d9 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3e159d3-4851-4551-b9f7-032b92850131 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f2bcf4c-8c2a-43c2-80b8-3c5ee90a1054 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f93c8844-1c06-47ab-9068-3d3e080b7cc8 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:171fee11-52fa-41ac-938d-bb22b3b51f2e phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f7d9cf91-d0a0-408d-b961-f4a1533bb9da phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f9439d2-19bf-457f-ba80-6017cf7859cb phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86b8bd8a-32f3-4100-8a85-eec85f64e4f5 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f1fe3e1e-ff3c-4c3d-a29d-3a95585b85a4 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d743675-1654-4f09-a1a4-e99e21775ca3 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f1fe4ab-8b83-416b-ba6b-509052181b91 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:109c3ef8-3f13-4705-bde6-5da2de747fc3 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:410b3589-3f9b-4df7-9e4d-033271dc8196 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5284e604-efa5-479d-b10b-7311602eb927 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:287c95ba-daaf-4044-b52a-45bde0d0cfab phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c253e786-d067-4e59-8c39-f0bf513f053e phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83f505f9-c69b-42fc-990b-0f67e882092b phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c46391b2-b1ea-4b05-9b08-af065a95ee5f phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e61a32ec-4a4a-495e-9fe8-8faa9c5cf86d phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:782a1d39-d460-46da-b128-6ee55d71155b phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83a8cca5-b711-4be1-aa9a-55a01b87dbd1 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5910c30c-95d8-4e6c-80ea-e3c868719d03 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62f2f68b-fd6e-4715-bcec-86d175968e43 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:529d18c4-470b-4ab6-bba7-b49989300283 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:d9d52afe-3d7f-46c0-810f-eba17962cd66 phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:0b0e3fad-53fb-4baa-a490-b84cae733c3a phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1a0d67eb-d104-4a63-a9d7-0713b4774e97 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d3434d39-6f95-41cf-8666-b0188f4a5e35 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bb8a4565-0995-40ad-8cc3-a16994bda182 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:09ebafb9-da7b-47a8-accb-540ecbf10a6f phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bfe4fb9b-2f40-4009-a3d0-dbd651850fc9 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c08f190d-1d46-4dd0-b8cf-eb9a096d0609 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:92e4f889-8101-48dd-ad23-ae0e347a2792 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:db7f9bdb-9807-4cf9-8de1-475c938f6a87 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0a257bf2-8f2c-4ae4-bb03-674acedd83ab phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b554930-1d32-4be7-a5d9-64401fc43f50 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8739b8b2-15da-4877-a2eb-a5c45fe1aaf4 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4657ef98-eedd-49cd-98fe-69cccb1d11fe phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ccb91329-aeb4-4260-81e7-da643f753fad phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f3fe227-9def-4cac-b925-44fe992e7572 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf4be947-13ef-4b64-ab64-96736e67c01b phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d713a083-36b5-452e-ab97-55f312a57a90 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:297f8745-8fad-45be-b843-acfb1bf04b6f phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1e986fb-edde-4c3c-8098-bc7d39786383 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6be6055-e65b-4425-b53e-497270d9f3c7 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:78f89bfc-a0fa-4fda-8bd9-dabb45bbc460 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0978b45f-2b91-41a5-a0f4-ce24611dd7ab phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:271b2c0d-3537-4faa-81c3-f9a520d127a0 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4397bec6-e3da-4948-b481-04bcbcd70617 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:096c1273-874f-4082-884e-c18dcac6aa84 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c20c96d2-157e-44d8-b58f-1cacaf0e3a5c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc927782-c432-43b7-b35e-fd0279464911 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40d1e5af-ae37-4b6b-9d86-79f0c25bc385 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ef5e4c6-e881-4c09-9ad9-34222b4cb79b phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eda200a2-d6fc-4b1f-ae1f-5bd2407b0d88 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a06831cd-a2f2-479f-af7d-45421eb9c60b phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab8b06e8-7ffc-4927-9fd4-8f78fe361628 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:797f6754-401d-418f-af43-8422a75ca1ca phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7582e3ec-499e-4e3a-9819-3283b11b9544 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:705a699f-5bd0-483b-96bd-fb38cd55d723 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b960153-8bc7-4220-80bc-c6ddbc72e442 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8239336-9476-4969-b281-b001e351252b phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09a807da-4966-4ffb-8f64-2e858dc9eec2 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:068c674a-9481-4b95-a3f9-b380897da42d phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a87b6546-62b9-449c-88ca-f91fdff81bfa phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f897dacd-a1b5-466f-aa09-a8a11f8ecd02 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64ada2c6-7b27-4f71-973d-9f295035c13e phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b6b6fee-3db6-4b5a-9f5a-177eeeaf6c30 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56a7f164-a406-4520-966a-199ee7ae3f2d phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5e7902c-ff34-4506-ae70-eb91e77f9eb4 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc70086e-3814-4daf-950a-d1c4b7ebbf21 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b81920c2-b30b-4eb8-97f4-b1db0de4e20d phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6825bef3-f24d-43ce-aa48-d3e05b2c255e phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d3878381-561b-46a0-ac3a-7eb9b3e92a3e phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f56ec56-12d0-4fa3-802b-0558ba916c7c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bb184df-4e01-4848-a2bc-f892462feab8 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e478744-601d-4e18-a8d3-e3ac56fdc556 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abce3cee-7838-435f-a7bf-6d2a9646f677 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe6d5336-050d-4283-bb44-0164f2043a9c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8db30886-e98c-47e1-a946-676c154b2a3d phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4fdf7bed-f8e4-4073-8987-15e95234f7d3 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a175f1c1-bd1a-4b0c-b2b0-05f42133923e phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbaec9a7-7772-4206-a1ca-85a55d9a3617 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f53d20a7-ce89-4cb2-b891-8047a6e42c4e phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9133dd06-a06b-4c00-934d-22f1e502cacb phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8077a757-ef53-446b-833a-fbf90d695bf3 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57ac6755-61d5-4ede-a3b3-288d6575ec5f phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c358da5-63d6-4e8c-be2e-d65ce0c7ae4c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e3bc817-f8fc-4d42-9289-a877925dd3f2 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf293671-8c02-4753-b121-43a2b85e4799 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f415507d-054c-4ab7-872b-54ca72ad13e7 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ea90792-fbf2-4b4f-aec6-3ff9e2c2e9d6 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:578a45f5-5fa2-4873-bb45-74c2cf9ce828 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6515859a-0e31-41c6-85c6-01e30151045b phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49882a52-5ae0-4cca-b106-4a1b83c90536 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:220023a4-eb12-49ae-90ce-5faa043803fb phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c719561-cbf0-4cf3-833c-75b9723b5c29 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:50e13d69-c201-4d08-a960-a41061bb3fac phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae80f048-6282-4570-bef8-a55a889d36ba phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f54d255e-aa81-4f91-9348-309a792da718 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b932a4a-1f91-4204-bdcf-67e55a6b99ed phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65d27d37-7a69-435c-a1dc-f6104fac51f4 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:051442ea-f4f7-4a51-9dfd-c5f50dbebd97 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79713bb8-3b48-4f48-8b73-3a335ef4b7ac phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a70e353-34d9-40fa-9281-cb3de7b0540a phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:945fd0c8-0cdb-427e-bfd6-b88cb2832994 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15c85f87-0650-4424-a3e4-786453d324a2 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:799a07c9-68fa-4a48-9620-ab0b15e46c09 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9198f5f-8e53-40ad-a1ab-7688432ac524 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90503d50-bbf1-44a6-84de-ef132d28cef7 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1e1f1df5-6096-4b33-be76-e99d3eb94998 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:438c80e7-7460-474c-8523-7b122df4db35 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84c4dec6-7a68-4bad-b3ac-5d88b2b71c3d phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:81fe40ab-8520-4ddc-896c-74f457bdd115 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6022d1f2-eb94-40bd-9e69-a1aa6a65610c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01500c18-3d0f-48a4-be96-06fef346640c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48596c4b-a1b2-4b2b-9b94-77fa79d5de89 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a41f93ba-adf7-443a-9d6d-732e4425477d phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60b8740e-3109-4c31-826f-4d929a9bf777 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ef1b8ab-172c-4f63-a3a2-d0a5797464d1 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa18ff0b-32a3-480a-b7ca-de60ae953d31 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99c56ff8-6a7d-4d0f-8691-bc2eecd823f5 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2a073a5-63fa-47e0-b67a-fe9936e5b65f phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5d92688-cd69-45df-b5d4-054a6b462655 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae789d81-d770-45f1-a553-3f0206c346e4 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0555537-7e76-4ebe-b182-1077e0364816 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b75733a4-5ec4-40d3-bdaf-c4efee8f1819 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b28a88e-d1ba-4203-bc2d-000e7aee34eb phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66191b39-f49b-47da-a9c9-d989ad8281af phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1fabf59d-1bae-4472-9b55-fdf5cbe141e0 phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60be12b0-a2d3-475b-9ff1-5b477832917c phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:a72b4500-2c97-433a-8035-8df485165f6e phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:43e761b7-fdd4-4e4d-91df-652a77611681 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:45e722f2-cd83-4406-9544-b96fabe40e44 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ed21a1de-b5c3-404b-a27c-5925007117bf phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dcd5bd77-c7d9-4aa3-b175-519ab37d167f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:036800c5-89a8-4b66-a488-d91c14d84b80 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:eb7a7a62-149f-4914-8aff-355c6a8322fc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:71275922-74f2-4dd9-9c4d-a0eb36f5a2bc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1a7f84b9-79d8-4226-a968-7bbb659b0abc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a520f22f-0223-488c-9ca4-bb5c4b2b9184 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37b1eaa0-bae8-4ea3-8b50-976471becc7b phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bec7d8c1-0790-44d5-9599-df9f031edfbc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e7515c6-f368-4d0c-a51c-675affa10a45 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc44d119-6835-4f4b-aaa4-11b4913d40b1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a028c650-ad46-45f7-a126-9e8cb0cc99da phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1cd10a3-d7ce-4067-b142-cb115b8e0208 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b95192e9-6473-4850-b3e4-5249518af0fc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49df397c-bf70-4ff9-a79b-dc9af75bba6f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1cb5d71-e09d-432a-b64b-043813505897 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd619b53-d45e-4b51-93c9-85a8034e238f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:977a5565-0e8e-4884-8a61-3d8db27a8dd1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f077cb25-0132-4567-b89e-266509c85cee phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfdeb093-06e5-48aa-924e-5eefed8c2ba5 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:351c41a6-a2e6-471e-adbe-75b796cb1fe1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21cdae5b-6d3c-4b28-83e0-dfee7932895b phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a15c818-a6c4-445f-9aff-82dcb0a0d0b4 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b79888c-8b76-4e61-a767-808f354869fb phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8899634b-7a63-41d1-b6f2-0142a9771456 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bdaf9fc6-9ab3-4aa6-ad78-ea4ebeae6f65 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:760aa97f-6258-47fa-99a3-968f84a8310e phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b4e60eb-4cfb-433f-b88a-3a1464512e38 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51291152-2881-49d9-b7e2-ecba8305658b phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7266b17d-5057-480b-a4fe-690f7944f91a phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9fd2ed4b-3646-49fd-8b75-b173bef6dee9 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:108cfda5-9aa4-4b06-b5ac-8e73189310e3 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:176a3ffa-d557-4687-b24d-18b4a7f119aa phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ad83b8e-4e41-4724-b5d5-3beefdb85b1a phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da128e90-135e-47ec-a822-57c317d370a4 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a66f39be-bb25-4525-9646-f30d588ec456 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ccf43e0-2649-4973-b32c-400a38b18769 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:919e6fa9-e9c2-4eed-92cc-605f34a1565f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfb8d754-4a9c-445a-8a09-6ffdbd42c3fa phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d595207f-1e60-4b39-a84d-f321286b9082 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:530dd149-2f32-4ecc-8110-0f23fb8e6e42 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:987de04d-5d71-4e89-a055-89b3566c1d2c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:004b69ac-9632-405c-95ff-5aa8e54349cd phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62aff9e5-793f-4174-8d59-9a88761d6404 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4a4faa6c-c3f9-485a-9671-34ed438c4ad9 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2072d3ec-7c6f-46a0-8807-0e5a056109b6 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:785a710a-1a7b-48c1-9d2a-d4312e3eaf50 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7a6e334-5924-4f5b-be59-0d43b4d0ae85 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8420969e-76ca-42f2-ba27-754827d0979f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:27a83178-d0aa-4ed0-8c2b-80a1066eb3db phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9cf8ebb-3d7d-4c92-9d43-6daa976d0be4 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc7456b4-fe51-4c00-8d7d-8f85b566870c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:81e3a04c-d9a6-4d3b-b8b4-e91f84e48145 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2dedf96-2630-497c-93bf-51edd46e2b05 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b466ead4-9539-4c83-baa3-69c745c7fc81 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b590a0c7-efc2-44ca-96d6-33466da6252e phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92144145-a877-46de-8236-7123aa1f63d5 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b965bd1-b185-4a0b-bce9-163db1b1e19f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08caa11c-8acd-424a-b0c1-ece2a16d35f1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d854ae1-549f-4514-87ae-95019c02e9dc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a36c87f-7255-4f63-9953-71268fcfa391 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4cb62206-f5df-437b-8394-88837fed4b4c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:debd09a3-0d85-4152-9503-ae3b9c92eb76 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd158fa1-8f51-4dde-a5a6-bb9cab03282a phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b81144a-7d95-466e-ab58-ac7344e448db phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3ed8a31b-6c24-48b4-a828-3864ee56a2be phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7455e233-dfb8-4e9a-a640-f51d9564f264 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c3ad10b-3fc7-4257-9028-7311515544bc phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35d86e48-d2ed-442e-b002-6e9437a8c67d phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67b80919-79f0-4512-9c2d-ae8959aecdb6 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed0f9ea3-099c-4c87-927f-f77fd5cd92b1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2328b723-1c25-4e6b-9e8c-1236cd09ec2c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd1c1840-5e39-42e5-9836-61c7e0560e2f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2dac0ae7-b18f-4a5b-88e0-7402daf64bdf phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:492227f8-a880-426c-b014-0a13cf3302af phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:971ca6cd-e28a-4546-a8c5-0239ef58f675 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48f0f9a9-a9fe-4f24-bcc7-93673589d7d8 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db371f28-3ba8-4c8e-b135-74b173ea74eb phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24536af8-7156-4e24-966a-de49167ef234 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:260b2362-9d90-46b7-bbe1-7504d5464795 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82978c30-fd4f-41fb-9b77-ff90e9be1f9a phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc89758a-c88a-4e4a-bf42-be84cf3e867a phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eac9f0bc-042e-41e0-a4cc-ca81dc68e76a phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a61a4e23-644e-49d4-88c4-3cf902fb088e phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c377bc09-09b2-4b16-a848-6104837856da phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ace55619-85ff-4a9a-9a75-e041c5bf9627 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0f844b1-1181-4cad-851c-cca18340c4e1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c1b1e41-9364-48c2-ab08-b3f4c7517cd4 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48d10ea1-b279-48e9-971d-93286a878509 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3198faf6-6225-48ed-a820-b94add2f2a24 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9781f829-7a19-4e1a-a692-ebc680f1c53f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da2cf7e3-9870-40af-ba9a-e4bbbb537b6c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26a35a19-2473-457e-9634-cdaf523df65c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a6272352-9ee8-4f54-b2e0-800d936bce09 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d11c55fe-802f-420e-9e53-6c2bed51148c phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e21f4650-165a-46e9-ad6a-4b888c6b46a1 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f08c50e7-09b7-485c-ac62-9861638400bf phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6faa1cea-5e98-4eee-b6fb-8603a887df4d phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b359329e-10c5-4974-8704-e416ea1a6e12 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ec61962-1779-4cfe-a854-f10f2bac3d24 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01ae09e4-b9a5-449e-8d4e-b7f66381441f phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:994b4179-14f7-4608-844a-f49c357b755d phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:77f58981-2346-411f-86a3-36bd3f6f7cb8 phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:1e189c38-c1a6-476a-bd65-335af6f73e68 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:01ddec68-0631-4a17-b4fb-248251c8c48c phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1311fec2-e9bc-44a2-b603-a45fecf8d07e phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:89f6af00-3f5d-4f2f-8e35-360dfd8a5aa2 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:489fa66d-1bb9-44ff-9644-9f3cb90deff0 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3d8fe4af-004d-4e19-a265-5627cf6dab55 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7d4bed9d-d2bf-4fc0-b224-06ad6491d3b2 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:766108b2-1224-4390-846f-84b36c9c43cb phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:14e4f5d7-e2aa-4b20-9635-1a58ded72995 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ad2841a7-ce2d-4642-b583-3edee1a23add phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a95f53f1-f304-4458-8ddf-092eea2973e2 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44416863-48de-40f2-8232-1a98d8c94537 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f1973e70-6b79-46c1-b14c-4e122d22a553 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e281122-d00c-4fed-8001-11c998f75823 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f242933-d34d-4d1c-8eba-e61e3c9ee93c phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39be1c3c-3e13-420f-8cf5-fc56ba1686be phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b56e67d-e538-42dc-aff7-35d1b595ce58 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f58f9fa-003a-43e0-9574-c442e49cae94 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d256927-29eb-434b-91ce-73b64939380d phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60f5ec5d-b4d4-4533-82b3-fa6d1e18df73 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bf589c1-44b8-4865-ac93-33cfdcde30ce phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c9ec8c2-98da-479e-a7d6-5d1c82f5e315 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba2923fe-93f6-4e6a-9a9d-09060a4299b1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d365e0a4-2cd8-4f7e-b4a3-b287bc6f6eb1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:676129d6-57db-4de9-8a29-1205ff56b04f phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a4d46692-d333-4ddf-9595-1de8db335a3b phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44d17221-7b74-4503-80f4-8d9d3d6245f8 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:60c69c7d-3550-4d82-8992-62671a5bc54f phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06ef214d-26db-4ab0-8c9d-6c59750f4e25 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a022ec46-db19-43c0-90a1-eb869e0db067 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b324ec9-aa42-4d5e-8300-d60f03edc3fb phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ac6e64a9-313d-4d93-ac93-e93473d64728 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd765e2f-2ab8-49ed-88af-a8a9a9e487d2 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:957e7cdc-b90b-412a-bb29-bb9fe561349e phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d92f35f-73a7-47eb-a32a-ecc7778fbd0d phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6506fd7-5432-4ee7-8a8b-6ef7d3e5f1d1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8dc0300-296f-4519-8560-a0754c9dd68e phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d86ae478-bb77-4798-8f83-fe7684dd7c3f phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4aca61c3-2383-4c4d-bb50-1a0c20c8385f phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc42f764-8ff9-4fb2-b770-d5f25dc2cf5b phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:622f6648-699c-4a60-a356-33ae4fde012c phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2008cc2f-3369-4e55-a8ba-ad5a6986df76 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37bbef77-e216-45bd-a252-cff0036f3cd2 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69e2d819-dbd9-439b-abfb-03b6ea8a228a phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46ec2678-1189-4a15-bf8d-2fa871ad1ab9 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04eb70cf-bd9b-4e6e-986b-3551bc31136d phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9d4a78a-a189-428e-83f3-db9fc3a5c0c8 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69a32343-b186-4362-982e-081acea54f57 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cae34fa-2d80-4dfb-a202-ef7bcf156d45 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c94d7c4-0d80-4c40-8aea-441339d66965 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d3627ec4-3dba-488b-8504-af37d21f222d phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68115cd7-d595-4d30-a90b-0fa8e4bf674e phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cff77370-7d2b-4453-8430-523e6d64f772 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3e8e9d3-b188-4c26-8f65-5103da535e38 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dddfc359-293a-4a1f-8c9d-ce1bf463f702 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:390b48ae-d7d7-4056-9c7b-b049f068e4d1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:680c2255-084c-42da-9e46-1708cbfd2d41 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a9d16282-1f5c-4c68-9286-02808a09b13b phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a25c2dc-69a1-4a84-9b47-b022b139bf47 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2d6bc0cf-a411-4bec-a537-238ecc3dc21c phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:118f7faa-887e-4d81-aafe-0d318f5cc309 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5c8e0aa-150a-496b-90d9-1e88f0d2d2ca phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eeb3cfd4-4200-4fc8-8713-e05b7ee694b1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:560bac1d-ac55-4bd1-9f01-f985aa803bcd phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98dccffa-cd2f-4dde-9293-51473c6362fa phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fc75c59-7915-4bb9-92a5-ad67d5315de1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c41a51f-9407-4d03-91d0-59b033cb2374 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:94d8a50d-8288-413d-969a-92e2383f20ab phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f34145f-da40-4085-96c7-8c78fa4c09dd phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:584b84e8-c7ae-4034-8253-db0449407b6e phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:788c6e26-0c74-4645-9ab8-ad1174e7d8ef phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9788520f-e5da-41d3-91d2-353a7968a3fb phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3998c0ec-2da9-4173-985d-c36ba23eedea phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1055443b-ae2a-4034-ba0b-5e949533b962 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:698ab50b-d923-4fec-a37b-001c5af779f6 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:708434aa-de4a-4f59-9f33-8c7b601a2d1d phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d12ec5b4-a4f1-4b60-9976-58b0957e5418 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20d624ac-bb67-4909-ae8c-e988a3805e2e phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:364138ed-d437-4c30-b56f-96d3a32d89fe phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b91dce0-7f7c-49b6-808d-f535d06fcd04 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66e97ac8-c655-4ac3-ae17-e7cc35800b96 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:407c2f70-b55b-415c-9ada-035bf188a7e6 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eca1e858-ffc9-433f-addb-11e18fbcfff3 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a6495bdc-5354-4d58-ba79-46b92861f5f5 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:565aa295-06f7-4251-bd7c-0b8221490288 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cd98359-aa4c-4f75-8a13-ab94170c3929 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:303ce388-7133-41c9-8051-7eedc083b277 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33878148-9de9-41bb-b190-e7ad7cb67ddd phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a5a7629-1c35-491a-930e-da879dcb4e2f phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5d9907a-524c-4679-aac0-09d25ae907ba phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1927f63b-57e5-4a34-9463-f6936a2eae6d phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:431236d7-9a86-4c4b-b5f9-4add5a394ece phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5dc418d-14d0-4b93-b504-465e11b846d4 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07943e9c-cb92-40a7-99dc-e047ca660ea1 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:347f5e9e-616c-4373-877f-25a0a07b83b6 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c92f130-3f00-4b44-96f8-c12e036f465a phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7077057-ba4e-49f8-9a92-febfe5bf636f phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5eed14a0-28c7-4214-9fb6-b0ecb7fd83f2 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20322115-b4b6-4028-94ce-9606626685db phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3eaca524-b91e-40f0-af20-0f823ed05387 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df04c8c0-5ca6-46d8-a3d5-f6b96698d8d4 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:848fc49d-0737-4b2c-9a0f-7655caea5fb6 phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:c091fb13-7f17-41fe-8fec-b1ac03e1a42c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ce5f83a4-c4e7-40a8-9716-f08aab178c7c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2a4e5d7c-708c-4fc6-a2b0-ce8d8f8ef973 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c72b5c3c-696e-48e6-99dc-beb34b15dedd phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c17e059f-07c6-401e-b6ae-0da3a511f8a2 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6b1b160f-54c4-4e07-b17c-28879bdf3580 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f0da6990-17ae-4bb0-8dfc-41cd8bf3ee90 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6c4ec10f-7115-4102-84be-96901c753a5e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b8ee1ef0-58e7-4dd7-9ece-57fa9fa9a51e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fbf2d00b-2650-4e4a-b6f3-8c0fc0d01f18 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2b734845-514c-4a8f-9083-89d0c37384df phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:41a80591-5eaa-488c-a9eb-f870c2367476 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec5a6782-5e57-471a-bdd1-fc090eee384a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77b61f19-f4fd-45a5-ae04-77354eedab34 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a8eb199-1cbe-47f7-8140-54cf320a1207 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa93167f-67af-4f76-b3f8-07a695810a58 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7dd9d5fa-9d3f-4634-81f6-cdc8ea5d135c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a2efcae9-bd41-4285-a29c-34a35ff32f34 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40d9b582-a24a-4502-8cea-e737d03b5a80 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5aae6b64-650e-4250-a947-f9a0065ec1bc phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a099de9f-9406-481f-a90c-3209d97bfa17 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51209d9b-12e5-45ad-82b2-1d83ec8e25d9 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f831b8ec-f29a-4b05-ac4c-8e4e56f4b17a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:329f67f7-308f-4fe0-a7da-13f75d5f6f3e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:133fdf99-6266-4894-a389-4b63741e2868 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb73fb2e-3f0c-4dd5-94da-00aef401096a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90d1a2c1-87a9-45d9-9e04-5f82b9be5899 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1f161ee-2503-4bb7-9efe-a25dc5109e07 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c5f4c6c-a004-42ce-89f8-8f0fc8a2722c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39dde00a-2360-4ed9-9011-d1cac13a447a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a9fedd3f-7b3c-467a-b9eb-73134c3ff93b phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:440a841e-e9af-413c-aacc-f353daf6018e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80030ff4-15e5-45de-af32-c5878a047935 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5505ff07-461a-43d3-bbdf-50258c7b1206 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1cb6365a-622b-4a03-b2e1-6f7708530feb phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d745df1-3203-4685-b2f3-66b68a5580f6 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a91851e7-0674-49b7-a86e-9a8bfb3ac450 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b02e847-2b89-44fd-bfe2-9ac453c9c111 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d70fd9f8-b4bf-4de6-9671-c5a5cec4aaaf phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd3db582-a26e-4aa0-ab66-f38117cb7884 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f9b4114-e7d6-4570-b2cb-269deeda3c4d phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:024de178-92b2-4302-8c4e-b1cbc9fda704 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef831230-7c7f-4dde-933a-e06d876c482e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0384e3c-6a24-4e18-b4c1-cbd18a4f0639 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4d754390-b11e-4f57-9f22-c7d836434c02 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b65bc474-e5f1-4b39-95f8-5ca23fcddb37 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d0b08155-6142-4688-b060-027dc890e4c4 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b97305d1-bbaa-4a51-81dc-ef606e4e062a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:99250bd3-f070-4fbe-93d0-623a2c2e8e5a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d7bac81-0c16-48d1-be72-53a8229798fc phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a721c44-9956-47e0-b2df-7ae50c2e31d5 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b390ea3-a3bb-499d-88a8-f2e5ee57547f phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40803fad-072f-4aa8-affe-5d88d109d60c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd536306-4d8c-4528-b744-c4cb27123d1e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b742fe47-5b98-46ca-aa9d-4eac8ba6b227 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3107391c-b49a-4139-9a0f-dcbe168ecb98 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4564902e-ff5d-4415-8c53-cd5ce99059bd phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58bdada1-6d54-41bd-96e3-c81b69caeebd phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cecbd172-7cf5-4553-8541-d03cdaf86e84 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:364af7da-6afd-4cc5-80cd-671f5a70db35 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b67e5f0-2cb6-4a0d-9f4f-6d403eedd62b phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1dd568f8-67eb-46fd-9643-9d4f4330e99a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ac56f8df-2d32-48e1-a1de-ce40a4432114 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a89f909-2660-470a-9152-b67bb988bf89 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84b2e834-fff0-487b-82e4-e838ed8ac2a3 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e4e96fb-1a74-4a31-b30d-5ed9163bbc85 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f28eff0e-ea95-4f43-bce2-65b195b7f258 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c72c99c4-9b31-4cbe-b983-c36c4fc6ebc8 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d03ff22a-96f4-45aa-a69c-7ae7be0406eb phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5634c3ea-406a-4a9f-8672-a995ee73926c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b38b423e-d836-407c-af26-c6545b416ff0 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e262eeaf-e119-4567-bc2a-7420139c6bc4 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c505b40d-2de1-41da-b927-bd4a18b876dd phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7144a424-ae7e-4395-84e4-a4f1d68cb985 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67839c0b-9b25-4d69-bcc7-5b9203d73b9f phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3badc2c8-6fe3-4e1f-a9f4-4c1d8b54108f phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:785195ea-62f6-4d83-9cc5-c015918eb07a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f027524b-407f-4bc9-b1c4-4a06e2f49384 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:22233c72-5644-4eea-9c75-182d9e1fbaa5 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:379bc132-6fcf-4be8-abb9-ab3f71a54543 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa83952d-3abe-48e6-998b-ba05655d2d54 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b9f0e6e-3486-4948-ab98-22e167d6fc8f phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74e8c5b5-ef1f-4823-b0e8-31cc1cf0474c phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6de112d5-b240-4767-872e-479ae2aed3fd phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37793288-9e1e-4002-b289-7488f0327b9a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ac4a31b2-6d46-45fe-ac33-caaa0e30a1a8 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36e3f001-ab19-45de-9156-ebb06f33e065 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db5c09f1-2aed-40df-acca-0e9d5ff46692 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51fa45cb-cb55-49f6-a451-b05e1d3879ec phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f6e5fc4-9608-4573-9ddd-fcbee317c7b2 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8631785-4ebf-4f03-a4ce-92a29ee935be phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f1ff438f-273a-43a3-bf5e-d3b241126c63 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b01e976-aa49-49d3-871a-5ca707d7671a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e711ca0e-0dbd-49bb-83f8-61903470a185 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ba20c9a-2ced-4867-8ff6-e8d98c8dba05 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b0e40a2-cf30-4338-a05c-bdc52d9052d8 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:418537b3-c2ea-42ee-bbfc-64cd827ba4eb phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d26ff564-d65d-424c-82d0-952cc6bd913a phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c70bc2db-e85c-4198-a2c4-ccc04c15c297 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5069a7e3-6d95-4590-a50f-6c929b7e3de8 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57dc539f-c349-4ce8-98c1-84e0f557c1b4 phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:ed891f11-2c04-4078-b4ed-25849569707e phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:8bb56141-aa8a-4b8f-ad00-26fd15225c2f phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dbe55bcc-4647-4cfc-904c-e171d1dc6d9a phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:27ee2d32-227b-4909-9264-4aca9eae1c54 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b826f981-0ab4-4559-80da-2c743cb7daa0 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:55c7253e-fa4a-453a-afcc-897b142acf7c phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:dc071d4b-594e-46d5-aa7d-4073c5a65303 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5b768c5-9742-4214-adb2-160af1f72f43 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:711ca932-57a0-47b8-a3c6-93c06a9d9ab8 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35f1854b-3d3b-4fdb-9b64-af78e7369793 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d51e997-fa40-4719-98e3-86bfca5ab88c phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62742742-a7b3-439e-8c86-250b645944ed phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e067218b-d02a-4d2b-b11e-45c66200eabc phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c83cec77-529c-44f3-88b9-d8eb6c280bcc phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6469f379-39f0-4071-9228-e2dbec71f253 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe8b1f43-38b7-4436-81f5-f01b31d0c85f phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34aaf57a-6a89-4c6c-9f48-4027d029e530 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f16aed0-3746-4a9c-a56f-40048ac346ed phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76c7f8a1-0463-4de9-bac8-9454f2e59476 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc50ae59-3f36-4485-8a0a-1897e0af2e85 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8097649f-7c22-4f41-bf82-3c2d900abadf phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61495553-1758-4400-be15-9d75a3119ba8 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f339292-a9d6-412f-98d3-41e4b4fd949f phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f47f8ce5-08ee-4653-af23-b57494403cd2 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db033f87-9368-4719-a167-b98750cad30c phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96eb955c-29f6-4a69-b344-8019ec455702 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bfa56a46-d018-4bc3-b345-f060d484611c phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1d0daef-a121-46f1-a0e7-83d861b4a0fa phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23cfa210-ac5f-4a8e-94ca-620ff479f9ff phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe755cc3-1acc-4eb3-8aa9-d8e2f506ec0e phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d93b110e-6c6e-4626-ad68-f017e3bfaa39 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:657498b5-8513-4ea7-9af1-be91aafbaa4d phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8e1670e-52f5-40da-8f3b-b6747f84d22e phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b31fa22-ff3d-480a-88fb-6b48bfdb941e phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:403f1d95-57ad-4ea8-a4d1-092ae32ce653 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b296853a-c897-4c27-85d5-9f93133a2c50 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb6f29c8-20fe-4b23-9d11-0dcc262b1f78 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b34e064-58a7-433b-b531-57a4d76cea76 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b202981d-cc90-4f4e-bbe1-789fcd852907 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7192a93-fb99-4044-b7d7-48d0552985d8 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f35cde2a-4769-4cc2-880a-f10ad2f0635a phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c02cec3-df9a-43aa-90bd-ef3b43fad7ed phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9712fefc-43e5-493b-af2c-94f4c01baea4 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:485e7019-54f2-4320-b780-1db7c76992aa phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b3c350e-c629-4cf2-9f2d-e4eb3efcd091 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2cba124-2bd8-4c61-9653-10607e075f15 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39918d0b-0faf-487e-a6cb-d474389a8e74 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64f1a1d7-00fd-4781-aaf3-4c5578d88dfe phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45c9dc45-2a8c-4694-9746-0849044e9e5a phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f3ccd21-3e4c-40ef-8191-538a02ce85ab phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c3d68cc-04a4-49b2-8403-30050bab0a00 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4befb72f-316c-4b4d-acaf-fac592655c9d phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a3b77e04-977b-4e25-b756-3da6af4d4460 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8927db4f-62bb-4ff3-9ef2-f5eede72f06d phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd6975c2-8d0f-4595-8b7e-a6ac7a8c1eb3 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c2490f9-69e6-448d-9b32-67f46ad13602 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7216b600-f447-4fbf-9bfc-1f36b8792d43 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f6481e8-ded5-4fce-a18f-6caa752d2ab1 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee53ac7d-2d4e-40ef-8807-a4d62e23685b phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e52babaf-f6c2-42ae-baf2-e134fe885fc4 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a69e442e-c52c-4cbd-9f45-53df400317e5 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:084ed9f5-6629-4f55-b131-12c00acdd6bb phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82278d24-5bcc-4603-a326-de4f03ccb0fc phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c48016ab-a475-49d7-8508-26d3131fa865 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47e80f36-3134-4161-afe2-bacadb34a029 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46e5b440-09a1-4af2-a010-0f557428c6e7 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb321d7e-32a7-4767-bb7e-e5ae26c29091 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e72ff500-c957-4357-84c2-cd8625f86bbb phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f51eada2-1365-4179-afc2-34a010723d05 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06022d3b-afbd-4425-b00e-ce2e8b5b4467 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e23fabd6-778c-408f-9a65-48c0b49fd429 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4a7f0b7e-8a6a-4c24-82a3-7cc958541584 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efd69bee-3300-4d14-b381-fc8fb9803710 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1e76c86-7a6c-43af-b825-5bff97324afd phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51230457-9e70-43ba-a3ba-92f2a8ccf4c4 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab7a7252-3db3-449b-b5c8-b0ae5bd28520 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c019518e-b47b-43a0-8b23-ccfd8bc2f860 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f561bc5-a0f3-4e5e-a747-2f64b04b5048 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f77ff16d-158f-4f2c-8775-d830bca78114 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f045cdbf-f6c3-4009-b83c-167f5e288f42 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:299ab1dc-cab2-4468-bd30-8b66e846868b phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b2ccd219-16ec-47c0-93ee-bbb2c1b0c150 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61b92827-345a-4049-b703-2725e53ed4ba phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:626c7492-9da0-4aad-8c9b-f8bd8244c8d1 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efa07256-cefa-46dc-9ee9-4b1531bc5f52 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f993b3eb-8c37-44d4-a4e4-3332ab98eb95 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ff918ad-39d6-48e7-bb71-0fb8dc1ccdfa phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c082b73b-883c-468c-ba0c-4c039f18d966 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48bcab4a-edfd-4fe8-a68a-bc443795801f phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8543714f-2ba9-40fd-ba0c-adb5f46386af phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0adbf18c-fc09-4930-a930-205e85f8c31e phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76423232-439a-4ee3-9052-90d105a853fc phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed282ca2-4b8a-4ed9-8e4d-c1bc42659ea4 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97c01df8-d6c6-4849-8838-cbf2db06e4d8 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09d881a3-5f98-4c13-bb6b-d2ffedb75f62 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7800b1fe-137d-4782-9fac-eb888d9a40a5 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62b6bbf6-347a-46a4-9f87-a189a8fbc819 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67512495-524e-4f83-84bd-d1becb48e4e4 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f14225ef-b050-425b-b071-3052ea80a6b2 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c180864c-1ca5-47d0-b6d4-dab2802336f8 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04dd4dfe-56b6-4589-bcd9-9593f6ee41de phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:f0b933ae-6d66-455b-b688-265008118159 phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:3981d2b8-11c5-4588-ae6a-48faccae74f1 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:699c6a19-d6a6-4d14-b605-e051c30f3f8a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5ba2a5ea-ec39-44a2-83e5-d0d141bccbaa phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:eff6d3d4-42fc-4785-8b93-f752a0e0b853 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bd4fe02f-5ff6-430a-9db1-5676d873fc15 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:05929b46-67b2-454a-8111-e6a80c96588b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2378b7a3-85ef-4b5a-9141-c5a2d1413130 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:63bef510-5338-43ed-8494-a98d8f57c2ed phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d9c7094c-3cbb-435d-81cb-11be75e32804 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:89900518-2426-4995-8544-a88b63170735 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6932f38e-2902-4539-85c4-d50ecd10fd3e phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a917276b-7b20-475f-8885-ad49e9f0aa1f phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:17e7fca5-5de4-4414-bcff-cb505e592a34 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bff8682f-b075-49a2-b097-1ff6c95b388a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e98505f2-af8a-4af2-bac1-4de932bb27c1 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e04b4bbc-ab19-467e-b5ec-fbb05759f0a7 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:73d47e2c-7995-49c1-805c-f38037ac65e3 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ece3c85-604e-4257-8f6b-f623f5875640 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62102498-8f17-4d8f-96d1-8ce61c5d4d70 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:92809bbf-8069-4fee-8651-6ab52508dc7a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72675d9d-3dd1-4721-bc97-559a914d4fa8 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:273927fc-70a2-4ed6-8d2a-1555319b0cf2 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5aa0cb17-3c9c-44dc-a4e8-9dd46e61db69 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:191d74a2-a55d-45f2-bbbd-30c0c08b67b8 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:950cc901-9af6-4b48-b25f-aa11af37e8ac phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:031f081a-169f-4696-a7bf-3736b1843fcc phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f9bbc15-f0d8-473d-94b5-aea41d400bc7 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00941194-02de-4462-82a0-e07fe7b3a7fe phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d2b7680-0192-429e-8db4-9d9436ae4bc7 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ddd7c080-1f95-4d3d-917b-660c58524545 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3209695c-b0de-4809-887d-c2522cacf47a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3fb020a0-1868-4481-a96d-24df3b69e3e3 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f2dee7e-5d97-4e18-be46-cd7a604d5658 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb1982e9-b48e-4855-81c0-eeee6bd6ce6b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9dabe12e-73f9-4ae9-8d47-aff615015c50 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7104038-15fb-45c1-b1e9-2c5bd0bd905c phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f956dead-444a-45e8-93c3-c9ec6cde6d39 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b510c25-55f7-4a7a-bb0a-461dcc4233b0 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:556e2831-ac68-49a5-9499-3edfcd0dec79 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af7e2383-aa6c-4194-ab52-5d8b54aa1af5 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bcfe4964-003e-4c09-81d5-1ceed41e8423 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a6584063-6c60-424a-96cd-ef6d7e78220d phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64f8df63-b4be-458a-a532-fc61021ad0a0 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1108be46-1ca0-4497-8bcd-4a48072486bd phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2638292b-c5cb-4a35-a107-e991ee792d10 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68a33080-065a-4087-b6d4-b4d9d5adb897 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f36ab184-1385-489d-a3c8-06397240e152 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f13398a-3212-44c2-8033-32f42c680927 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1035d6ee-34ff-4b21-8ce0-f5ba01f6af35 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3adc899d-3263-4815-9049-0d60709d060b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b139da9a-bd65-453b-a505-6fa315fcdc22 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbd9adeb-dd0c-4ef7-808d-6ad346d77e65 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83eca64c-cdaa-4c0d-9cd0-e147a889cd87 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5117eb9b-e7dc-4472-8e58-40cd59ae779c phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fff60df8-d0f5-45b4-aae3-7756b9604b5b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a479c30-579b-477a-bad4-b7a42ab42746 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d29a010-c652-4157-b15b-c89fd7ac23b8 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9253004-f9a9-46ab-9a89-7dfc230d13bf phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8023dc22-7798-47d5-b23a-0891df17bcee phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e537dbcd-b8e4-4641-810a-cc109f72cd74 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7352d8ad-b01b-40fa-a5c2-a3b6078ac15a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a367e04d-6d62-469f-923c-3122ad292715 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:069438d2-1955-4901-a202-535062e73505 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:659be80a-2db8-44ab-9b89-6cc332846bdf phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3cf53067-e7c9-4e17-aa28-febeb6313b65 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67316573-930c-4fb9-a66c-89d414ad650f phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f29c3066-3fbb-4807-9924-1cb6e64292d2 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4ebcd615-600e-4719-beaa-de480f9fa405 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1cb31af4-653c-4cd9-8236-fd430f94348f phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:196cd5dd-3ce8-49fd-b666-f8aa668dd0e4 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b0e6937-ec11-4c90-9c99-06beb571875e phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:faf63530-fab0-4b21-a70d-26bdc7a9cc37 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c21e5ae-09fa-45af-9db8-3e0bfce9c7cb phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63542f57-61d8-46e5-b7c8-94e156b3dc15 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a45410c7-c28c-4fa8-9a34-8babb7188ff9 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5edf0eb-b3f0-4519-a9d5-bddb219fcc84 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:165676ef-e64f-474b-8b32-4ea467d0a33e phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec01f33f-a652-4d34-98c4-2c0dfd7dd753 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93388ea8-8430-4123-9903-a21fd601cc75 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:541e2eeb-f2b9-4c13-8903-224fd81e27e3 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98df4e32-9d70-4727-bc04-5bcbd7d52b50 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01ee11ae-7bcf-460d-a40b-3f079c352def phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:940be290-0ab3-4431-a448-7cb87547d0fd phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e43d9d8e-8e77-4701-b329-d8035e138c32 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0801149-ae36-40af-9d2d-afe0b3e7851a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d93e6463-2f4c-402b-a14e-aeed01889fd4 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:460646c5-f38d-4147-81eb-a8c86b8d9a71 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:681f72f4-3f73-42e9-bc64-645b834a7419 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a74956dd-358c-4a30-9357-90f6ad084d1d phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be028dae-5ceb-4a0a-b199-542f31eef437 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e084fefd-8012-4319-9607-eca0be21bed1 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6bea0729-c03f-47d3-8382-7e41894b9361 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e49f4f53-2f14-4311-92d4-6d83c349e717 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4f71fbf-cbf4-4967-9389-c436484d7174 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d265c79e-77d3-47ae-a283-37b147b7cb8b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e525f91-7373-4625-9f28-959afef792e3 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aae891c8-13ca-4b9d-80af-cf048dcd848b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ca3330c-ede5-4eb3-a20f-7797a0d74922 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:46f97da4-5dfa-42af-8cd1-755e33d9308a phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87b4ca63-33a2-4126-b614-009e4fd87ec9 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b956c11d-cd41-4127-91e3-0e627cfa5976 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38c16d10-632e-4b7a-bf73-a742d4d7233b phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:2e9a16b1-ed43-4cde-9ff9-e885fcb793a7 phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:2c665f24-2124-4aa8-baec-8013badc545d phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8866bf9a-27de-40df-9e93-b6677b7501bf phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:29c7f8e2-547d-4b8d-8881-b30f854e003f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:28b6abed-1730-4895-ad73-52a5fa2c8bba phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:414d5a0a-9eb0-4776-8d4d-f69731fc6830 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f4d1c614-29bb-4da5-974a-f90392df1b2c phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:65fc26e5-290f-4bf0-8a6f-72954ef0c33d phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4429469b-32a1-4247-806e-2fee0668d0ad phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6d1ba1e3-bdf0-45c5-8d61-52c44a98607e phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3c8f108b-2a49-4f14-8585-51c7b7815870 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8f930787-62ca-4c56-9a2b-76899bd8ad3b phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:644effa4-29e8-4d52-a19c-ffc94d55a827 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72990a4b-cc13-463b-bd03-2be1fc5fd7e6 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5abd4119-bb97-4931-83a8-f721879c530b phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4dfadc0-7619-44f9-a90c-7969a00c8bae phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53bcdfe2-53dd-4505-bcdc-dac6c1e26644 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bda75320-4fa0-4345-a9cb-62da7d432b4e phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c97ba44b-7b28-4b88-9b3c-77a0a99ebf48 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1635440-750d-42bc-acbf-2cacab0501fa phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c44b4943-ca71-4269-a50f-e2cb946d87c2 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af7c6530-394d-409b-a405-176697a8bf56 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc807fd2-260c-4af1-aa42-b2f38843fe62 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee96b80c-1a88-4b3d-bb12-1a7a95aed461 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be2ff1f1-8410-4366-afe4-33ae39b62771 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:729d5280-c9d9-426c-9f8f-5d0e4db5f5f5 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a410f2f-d6c7-4214-9b5b-4a38c302794f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35da3a37-b849-4aef-b149-4144e555013d phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38ca2712-9bf7-4eff-bd58-4a2b68f9c3ec phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f174e69c-f664-40da-b037-d7d46ea4b5c1 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98388b7c-63fe-4d99-9ee2-ec7f21e4ea19 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0970bf51-5952-4754-9e68-a1dc7696580f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6dcf9b53-ecb1-4e9e-b08e-af9f6c9792a1 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66eaf09a-9d2a-4da4-a989-3ee8a268fe17 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8a943a0-763d-4792-aa3a-32dda2edd74e phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1df78c7b-31ee-45b6-b78e-6ac4f28d3b70 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5fb904d3-d48b-4142-9bad-5a6a672aa4f4 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0f598ea-c415-41d7-86c7-3aadf5d5b77c phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08401fa3-9020-4bba-8660-1a1ed74a982b phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39bb7b91-f6d8-4b88-8349-3a32b5f9ec12 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67e04864-bdea-407e-8f8c-cacc0960293a phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:942e46d3-e881-41ca-b1ae-0e12ed55a640 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87385412-ddee-4b2f-9676-4962b01219f0 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:830efd8b-57cd-4032-964b-26a1e19faada phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:226ea621-d304-49d8-836e-982e4f932b55 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:034cfc2f-e8da-4547-826f-20150c6b976f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a8bb10f8-8fc7-4bd4-b35b-7ca5dbfed448 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed49d798-f742-4f36-9b2c-eeb0974d25fc phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e865ef03-b562-42e0-ba76-e5a2fe0510c1 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:056296e4-77aa-4eca-b5f6-c652758200e3 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fbbd9955-6e9c-4d0c-9ae5-943103f67e0b phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:791da0cf-a99f-4577-bf75-19731aaca021 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76ac04e4-e0f8-4f3d-998a-e74cd91331f4 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8831976d-99d5-4d06-aebd-c8f62a28001d phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83d9c5a4-fcf1-4cdb-8904-e31f07abbd54 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69f408e3-7234-4309-a691-5ce9e15af781 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:afea6a83-592f-402d-aff5-558aa8f31f7a phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3498d642-f503-4314-a6b8-0750c827c3c7 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:647de4e9-a755-4385-8667-ff9afc65534c phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eda1887a-0551-45d4-9d37-14e78159ec23 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2d6b9878-0930-48a8-ab60-4c88aee168ac phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd6a8880-11e1-429e-9fe3-5a599e1e93c6 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8424675a-9a58-4b11-a1b8-55286379dc3a phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b0484e4-0012-4387-a7df-65bb5b52650f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aae054fc-9ee1-443c-aac7-9283fb89bed4 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07cba2a3-5833-4870-a3c6-5027df519af6 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:993b7f50-fd95-475b-9ea3-98efdb1834e9 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26399ca6-281e-478a-8caa-4818f343211c phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abc10edb-a351-42ac-b8e0-2c746cf920c4 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7be8bd5-3a12-496c-87fb-a6230ca0c428 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4d83a2a2-6762-4178-beba-f30f1cca3016 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b3230be-e825-4210-96d5-337e1fc84ba2 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b754ab51-54b3-461b-8250-15cb2cc23bca phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d232dc0-a4ae-4865-8d07-9ea221ddf023 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48203f08-f353-4e2a-8862-14dba716b6c4 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12d8983b-749e-4afc-98da-ce21d0a7887a phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b02a7ecf-a3a5-4668-b5d1-0058b037fabf phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:454b9784-d519-4b0b-8ac7-21c2e35d7148 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f17c277a-dc51-46ab-b49b-69aafc352ca8 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:776698dc-979f-4aac-8a7e-5c229cca9963 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e9e2169e-34fa-46f3-90ad-efb5726781ab phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff52f127-c5e7-4b7f-b79b-86454b33443f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3371af71-a10c-497d-bac8-8e89b7c7d00b phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2554f5d-ce8e-43ca-991e-f450547e9d12 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d0bc56c-6e68-4122-82a3-5f9f03b50790 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:553417d8-6119-48df-be7f-31bb7040bb80 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fee67fac-ac7a-479c-a746-8d16fcdfa165 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4caa727d-1218-42d8-bc8f-3066f6d51d3a phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5fe72b1-21be-4534-b78e-9477cb5f4922 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2fb6ea7e-bf51-4127-af16-8396590ee8c2 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a3f78059-f7a2-4562-8724-6577ce0229af phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec44366c-aaa0-4ce1-bf10-41bf51f6ac8f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11c98eb0-5843-4122-b586-43b8c12e8733 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5bc166a8-f785-455e-81eb-f7fc8268a789 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf3b956b-1614-44d9-8364-385a34641e4f phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63e38c35-944d-4d99-b94b-f0c77ec22b3d phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1d9adbe1-4c49-41aa-9815-bc5f4c52b206 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68888dbf-9d2d-44b9-95c6-9108e79db606 phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:683eabd1-cfa0-49c8-b79b-0ca03905a1bd phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:564ff7b3-7eda-4798-a8ea-15e410af0a58 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c4717c92-37e9-45dd-8ab5-5fcab3a9fcc6 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7c97de5e-fd63-4bb0-a3b2-773696ac1e4e phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1b00cbe5-2ee3-4bf5-a3a2-d823d0650e4a phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c7d3b7ff-8936-4931-97c0-3f0b5df028de phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5f3e0c3e-0809-4a15-a091-0a7cd5cf294e phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ec893158-30ac-4909-b4b6-8938c78c1b23 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4c4e3f00-4bec-44df-8a9c-a9b8fda46b28 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:431d332c-799d-45de-bbc9-5fb5116e8e62 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3d12fe7f-dec7-4b59-bf11-27eba7c2be66 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f3e2df7b-1650-4cf1-88be-cdace527c721 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9ec5122e-753f-4abb-94ae-b7cbd2bdcf15 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d0b592e0-154d-4813-81db-8405e148e2ba phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:23984fb8-815d-4adb-8e43-5df2442f002c phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65a37bfb-d6c3-4f8f-8f23-f8292e8254f9 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b2128cc9-a9c4-43ca-8e37-210428e3ce2c phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a0044d6-3301-4400-a045-a1d4b0763613 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:534af73e-d00f-4ea7-af0d-1a7d451fb914 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d827806-66f2-4439-824c-6c53b74e29ff phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e30617c-0be0-4c23-8e63-ddf41777d03d phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0424d83-c830-49c3-b645-f64f4e135fdf phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:432ec16c-8ff2-41c6-a519-b188952ff818 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c4879be-293a-4d15-a6b0-fe8d7ddd8d7d phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67f1c418-4bf0-4ab1-b158-b930658a9a9f phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:50fd7559-30e2-43da-8ccf-628af004e464 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:75231abf-c9bf-44e2-a02e-9feaad573366 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2d0a3a80-a2a0-42af-b6ff-66b5dd75d337 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1338a0ca-e9df-471a-814c-b87b7739f480 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5e39f69c-7929-4907-85e7-4fac6f17ed82 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1a786a3-1d6d-47c4-880f-564b13b93ad4 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f8423b3-2af3-4b2a-b48d-0ecabdf98f39 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1767bf65-d3d6-4fb2-9ea3-350aa13111ba phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c119267-d3a5-4024-8aa6-5d6e0246a579 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0fa53de-b0db-45fe-9185-e9aef4a8eeb6 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3cc946b4-dae5-4aec-8a3d-52fdb9b96baa phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fcbc82c7-ea8e-412e-aef0-03d4481d6c76 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:696b4dc4-0eda-41ab-897b-714f85de8dd8 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab200a0e-3a7c-4e3d-ae1e-dfd3c91deb55 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a128a372-e5c8-4dcf-887f-f30626afe9f4 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47b0c4b9-4199-442c-b0ab-498c0534e8c7 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b7e92f99-e94d-40f4-b7c3-519e5c691129 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e70bde75-ef1b-46d9-9b45-1fdeb0cd9cab phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:870e9e01-82b8-49bd-853a-080fd4460ab8 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:498e9d3b-3fde-480f-8514-4145077a50d8 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3ce0111c-3458-4be7-a7f5-055815fd6614 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72a42fff-23b9-483a-94f0-1262e2d9de60 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a02a153-4e86-42da-b0e0-0e7c9f63b53d phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8366c9b2-d745-4c61-b23c-8a1745bfd67a phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33e7b4dc-5576-4d9e-87a3-d36b41b324e5 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69d5ec3e-a0ff-48c5-8af5-1f660d2fcb82 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74994c13-dc2f-4be6-8ed5-5f134b58c811 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abd76230-ed5e-4395-922f-f507d70a7fc9 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d78db5cb-32a9-4a5e-94ab-0f18660c1781 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2183e13-96bb-4148-a74e-ac9378fdd8ed phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37cdc47c-d2d1-4353-bd4d-99a5ee6c2828 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6fde192a-21a3-4622-a3d7-401e4a08f119 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b454039-9887-481e-b03a-c5b9d760eb2a phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:878a7ca7-b8d3-4fcc-a667-5c386cac9918 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:727a7bf1-6f30-4b81-9688-56060937a942 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1dd94f3-ba94-459a-b2de-cf8c9f33a88c phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33d5a813-1f2a-46e7-99fe-59645b58cedb phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2fc2251e-8117-4320-a9cd-e1cc4df1aa8c phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6e30d84-49b6-4162-8bb8-6904121cfd64 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72224bc3-d9e2-4407-9a41-73d23198e7b3 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98a1a229-9c4f-47de-a472-38d7b9f2f443 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9d5303fb-32b8-407b-898a-49400c0e2308 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98c7c43d-4653-410a-8bd5-631ecfc9d3cc phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dfad3db9-9251-4f02-9a1e-3716c9890a96 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:509df32c-a14d-403f-baf8-eb4ce5b4fa9b phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07dd3c5f-4b9a-496b-8b49-16d534289959 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d9adb189-4630-4267-94b6-eb540bc72502 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:532c0f4a-0b97-419b-aa14-9bad292c509e phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aef2d5e3-b8f6-409c-9823-dd1ac8fdb0d2 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:471b4294-e27c-444d-9245-db065eee4721 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec3e7372-c405-4647-a513-261d01616e33 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:59bc4a3e-e224-4417-b587-aa9f8375e579 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ee17f479-485a-49ae-a117-492a37bf1893 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:559e660d-26fe-4ebb-8162-ad7869f41797 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3fd8148e-7003-4006-b938-c683a0729899 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87618a62-a886-4da6-8ed9-bc562d24b873 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26a3d789-2a25-4449-ae82-22792de76994 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cff8a567-9067-4bf9-821b-7b8c3f7cf4f4 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d49d7fd5-7c8f-4d54-afd8-03345fd93930 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5afbdb2-d235-414f-985e-ddf5f1832316 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:263a3b23-7eae-4f6b-bb86-03d3d51f5cb5 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbc25c64-13f7-45e1-8209-58634d3492c9 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:278f6eb8-603a-4334-aacf-1358417a7c2e phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e406b531-bb1f-448f-8847-5b2bd83f7c4d phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d8b47348-ff41-4a5c-a70f-62e3d0a6d2bb phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f6d6d7e-49ad-4c07-9344-b9f8c3bfde55 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2499db96-38cf-4537-9a19-6a664a21d6ab phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:84ca6d7e-9c78-49ae-ae90-1a85223803c9 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0a41a3e-7459-40aa-9597-b214336b2cc8 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:428eb883-b47d-485a-89ce-1286180aa64e phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57b5f994-6a2e-4966-9c17-a1109b347d09 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5c0d4d0-4055-45f1-ac01-790da0d1775e phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80c86d9a-c8d5-4c70-9f8a-804363c0e7df phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aace1518-f833-44d1-9850-1eb4b5d8c6fd phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a4fab53b-1246-4461-8ba5-79d849cb5bcf phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:063c6c96-b4c9-45a5-a906-14586953873b phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69114077-2000-4204-8c40-674519119124 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c188479c-0850-4efb-bf6b-cadb54bc92a5 phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:431e29e0-82c5-4f7d-97fe-ef483e2344bf phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:e3a9c965-e5eb-4f3c-98c7-cd5ad4a245c7 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6c742201-eec7-44aa-ad5f-0d2c17570ff3 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1f517529-3c5d-4eec-b773-65b3aa878965 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e9ba20b1-8cc2-4b12-b0c2-21fdfeb5af8e phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:edc56e10-5b1e-4542-b43f-f559485cf424 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:82438c00-f03a-4278-b8e8-30636188d491 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c1960cfe-aa06-4363-8978-066a2971fb56 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:88184a84-fa75-43da-b417-93d973e56d25 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c28aba6d-6048-4d71-827d-adc8ee842eed phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fed2c32c-2a28-4706-bdd2-55d0f4795a1d phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a52d6b40-8a08-4684-b2f5-8b96412c16b4 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5868b2bb-1928-4ed3-89fb-16725cc8ab1c phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:230ec8d2-f9a5-40bd-8791-9500a38cc084 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ebe914d9-0373-4e19-85c2-39d0133b5062 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c0b646f9-0ce2-4e7c-9d77-d8ebb0cfff28 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c64a8b17-aeb6-4d34-9a95-21e3c7adfd38 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f8ed5131-6a22-46d7-9861-e51ee5e25e5d phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a8535e8f-615f-40ba-898d-8dc8eeff3e0a phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c6e26b4c-46a1-4701-85b3-317892fcf055 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa498b90-60e4-4465-bdf5-109a28ae12fc phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3605e15a-1f21-4f4f-bcd2-dab6c95c7ba9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93161576-2764-420b-9cc0-d2709b1e07a8 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ed021ca-b857-4c31-aa26-761cd1b59915 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b13ac220-76f4-4654-8550-31e385f50666 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c50fb92-352b-421b-ba80-9d382a0501fa phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:66f871b6-7cd1-4c4a-9987-7c0fd8b3ca56 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4768cebe-4728-4a0f-ba98-964b0c33601e phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9a00e97-3c8f-4c36-bc83-4b8d2b47166c phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25ce6679-de20-4cb3-bec3-df6f12bd99a3 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:afa568cb-b418-462c-b695-00ba5c5290cc phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ace49390-34ea-4b02-b095-29a72485dd2e phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65472a25-3f59-40a9-b2c2-383ead8dc37a phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c7670d2-f621-4f6c-b519-88b4a2f8e15f phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ace0bba4-a0d2-4cdb-8268-d6ca0fb13689 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44ac51b1-34e2-4866-9376-9308926de33b phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:864fc853-bbf0-47df-b380-a1650fe44827 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61ac2a7c-7c7a-4a7c-96ba-810ac05a8f1d phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e5ed2a7-1696-4255-bcc7-3abbd146d5a6 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb6ad016-a126-458e-a251-eb10f3e0d93b phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c37b9728-64cf-431e-8a98-ed5ceaf9139b phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ffc541d-b02e-4a5c-8e81-d5d242f03a42 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f876c63-9537-41de-91c2-579eca357394 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6a99485-44e9-4d00-99b2-8216f8e601db phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0443213c-1c0d-4d85-a044-979860c68b96 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb8b145f-aca6-4260-a6c0-11370521dd11 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b695472e-ed2a-403a-9fca-8882a542edbf phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e84789b-721a-4fd0-a04c-ce7f1e4f6bef phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6557d7e7-d25a-42b5-8c82-9c875b3911aa phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fb3052ff-c4af-435d-81f7-07fdd468989a phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e424283-6c9c-4c0a-8c69-0abb9c35e082 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90c05c4e-79f0-430b-bcc9-1a8379758c38 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f438d291-c647-46c7-ad9e-c7e2999922d7 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0e75196-af35-4fb1-9ce0-537362a76563 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c32b421f-6118-4cf9-aec1-118c965ebc16 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1fd610c1-e618-4e65-8b71-c7f9e485bc82 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b43bc422-ba2c-430a-8230-37439f1bc2c1 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5238b9ef-b04c-4a41-8e5b-5032c524689a phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c4e4e9d6-fd59-4294-b9b2-22e022a773df phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67927a69-31b6-410f-ac3a-1612060c33c9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a44e3d0b-3495-4525-8280-48ecd6e2a9a9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:561bfbef-0b2a-4a80-8fb0-a6be7f5d3d20 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c901c8a1-4a04-4258-b91d-d812a7db7348 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ece073de-e382-477f-a032-86d6d520d598 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:451581a5-ffbe-4e75-867e-a651c47fe862 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:643210b0-161b-4cae-b706-4a9bc8ca65b4 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce97b3f6-cd6d-4d62-8079-42040b3d7d78 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06ac91db-4492-4371-b84d-121af505fb14 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:41db52bd-89fa-43bb-b1f9-e5c1890180f9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dffa9fcf-c1e7-4494-897d-a2d072e56c7d phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9e9b3898-9a8c-418c-adf1-dee147fde814 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f860d37d-b373-4bdd-8286-0ccfdca5da33 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4cf993f-58eb-467a-a2bc-4a5344fd22c8 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65f63f4b-0b32-4a9b-886a-8d73186cb761 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c944014c-3092-4fbd-ab19-79cceae9fd35 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:486d0fa2-dc8f-4819-be85-96a640e5bf4f phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d3c5889-dd99-4cba-a0b5-aaf6c3cd29c9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:05aab7db-c2e9-41d5-80e9-c8323da00ab8 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb40eae9-2345-41b7-a162-86ca4b612934 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39b19d44-91a0-448f-8cbb-ced560033972 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1026e92c-31ed-420c-a20a-33a99e5f37f4 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a04ee6b-b0ec-4a81-84ff-19294bccbbf9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:886e7be7-08a9-4d1d-b303-0e178d0a7462 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6edf6937-9f86-4ef7-8984-53478cc17b94 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6eeafd94-38ae-44e2-a98f-cbcbfe4bf76b phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:03811a8e-80d5-43be-9654-94f3da921670 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:617ca192-3a80-4328-851a-73fa3a9b14f6 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c49a70e-6b71-4be6-9af0-aee7ecb054e1 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff0b4ebb-daf7-49e4-aa34-29ca4f678c7b phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:316e8de8-9272-4e88-8f93-2d4965f4f003 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e739191-b5f0-4252-98c5-975b567ea177 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:19773708-8273-49e8-ae9d-ac5ea07564bf phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4546f959-0c7c-4ff2-9108-060c35229eef phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4e43655-34ba-49e8-b207-a8e31740d883 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39fc2997-3276-47bd-ac36-5f39e82ec1ab phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64c76550-81bc-4527-ac61-211e9bc8237a phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5e0745fd-818a-430a-90af-84a0b3536eb0 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08b3bd0f-8c11-46a5-8f58-13a7f8606a9c phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9dcd1e9-d92d-44a0-adf7-18658e4abb7e phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a767309-e008-4126-b3f1-80177b9db7b5 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6762355f-0fb4-48da-8760-56ea9cc5a8a4 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11fd604e-dc0a-44d9-a0d7-54df111ec5c8 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:264bd57b-bfb5-4ec8-8954-287cdd4786a9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86e7ce42-627c-460f-9b09-f0309b87d3f9 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:399487eb-4903-4151-9988-88509f22ef21 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b83f7a8-fda3-4bc4-b05d-9d680a627606 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c68391ec-ffe0-4e85-88fa-d05b4a3b2ac5 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1a80cf9-8ee8-4a35-a111-2c163e57ebef phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:65838f57-822d-4a1a-a046-06572c4e0e71 phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:8e5d908c-1ed4-4d21-a411-82265b4f33b0 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:eb7a03e5-457c-49f5-8aff-0691060a262b phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:12c262a2-ce2b-4653-887b-be7b1fa021cf phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:32ab4c64-98f6-465b-b18a-9733fcc2e7fe phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0fd225b8-ddca-4d05-82bc-28a98efbfcc5 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5d9d992d-ff03-445a-98b1-927660378fb2 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1b8987bb-8ecd-4f43-8888-8b9ff3b9f13c phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fa28f730-14e9-499f-a5ae-79c90548df5d phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:aa4ceec2-a930-45b7-a815-3ab09b3c2ae5 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:865c2189-8708-4878-8772-a9f6ec1fa46b phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4c4f632c-f8d6-4e2f-a4ec-b0d5c99aa7e1 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb7ded16-8089-47f0-a326-46e44dc67a14 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:adf3deb2-dd96-4992-a6a3-e1acf608d6d0 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:194ab0f5-305c-470d-a3b7-076c1351f4e2 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1b562f9-b374-426f-8f30-7c7961d9c453 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be066d9b-74ea-425a-a94e-8c8fab7583c9 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1e1a9781-86cb-450e-8287-1399bb0ef450 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6845545-f3a1-46a8-a99f-9d45f65da7f2 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d172440-e26a-4354-9074-f036b4cbfaea phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fda8e08e-ad95-4017-b9ae-536106542b6a phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67dddf15-ff4a-47a2-b051-79b05f5e683d phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:299fd026-89ea-4bec-89fe-69d0e772875b phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eeddcdf4-32b7-41da-b75f-bdb946e0a44f phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d2d52f3-3783-4976-945c-f192b559955d phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9e479f1e-ef22-49d1-8954-01bd889419fe phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8dd86869-5930-4f1f-ae97-687e21291898 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24eb4e0c-d36b-4329-8a4d-cb10c3c9f8d5 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53270ba8-8e41-44e7-bb9c-1b0a18771417 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d61d829-bd51-4b00-be31-5c5756c199f8 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:046bd3f2-1f1a-4873-b7d7-19775ff33ae0 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:90055aab-c47b-4cdd-b262-776b355a77fc phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a4ec2545-21f0-4365-ad13-26fbf14a7fc2 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a38a3cee-b266-4f34-824d-fbc5242a97f7 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c4bf42fb-4214-44e0-9e98-758bc70bcb18 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5428836e-5517-4d26-8ccb-4b9c90460b47 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1f604476-03c2-4ae7-aa76-a1730b23a423 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b85f658-1f23-4883-89f2-f232aa779007 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:963cddba-e91a-4227-94da-d28ccd8f9eda phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6d152d3-7542-471e-a685-ca2cd1e65a92 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6fe522b5-9beb-4dfc-8c76-5eed2ac5f4fa phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4126b076-5818-4cea-b3a4-c1e9d2dd6c2e phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:934df711-733f-4592-9d2a-e93e40be7c66 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc98f8c8-8c90-4cd4-b574-eb08cccd8a73 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3294a1e-e430-4a73-aa88-d515a49cf834 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b11d9630-cee9-459b-8c32-83231b7d8d6a phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3009529-3cbb-40ef-95ac-1867c36a1cca phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5793e471-5b01-4395-b7f0-e15325a40f26 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3834f40b-7bf8-4626-8de7-b2c9d327c7e7 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c8c0d63d-ec2b-4369-9d4d-3b245dcdbda0 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80857b20-f789-43df-955d-b2acc408e14f phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2eac1db8-b4c3-49f4-988a-f8961665874e phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a826963-fc7a-4112-a5ad-a3cc80f55f87 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bfa2d499-7401-4600-b26e-010610616881 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55973a9f-e3bc-4f91-bcf6-5474e85b4feb phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72cb8b18-0bc9-4772-979d-84804456a8bb phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1e66ebc5-f3c6-4df2-a6fd-baa02fbea1a5 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ab89570a-8419-4b47-8686-1fd96e68fc2a phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d8af2b9-d78e-4109-aac6-1449e2da4e32 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38004659-e334-411e-b5ff-d673398fbfeb phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57ce2d80-8b6d-43be-8267-4d1671362dde phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f87cbe8-0f7e-4b32-92d8-b50458c389e6 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:03b12455-f7f5-4f37-8b94-d22900d4e6b5 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:52957f4e-c788-4572-abf8-2659fd854ac9 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:049a718a-fc77-40c6-8b6b-d31a24cd28ef phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f290bac-9407-4228-a877-fd46e64b88a3 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a23b036-658b-444c-8efb-97afaafc2f44 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44347a8c-a14f-4b5f-8b19-f1063ba031fd phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c29075ad-ad36-4152-ad7a-76fda430bec3 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:822aa2e7-c75e-41ac-b5c5-cc1ee967b740 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2564093e-4799-4a3c-a56b-77ce923e67c8 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b74f6a86-9ec7-489c-b9f2-51f9e9d186b1 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f45c73ec-a55b-4e11-84c0-051f9b40c028 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd7bded0-b8a8-47d9-99d5-2e8ea5791e08 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71cc3c23-3aa2-4aa7-b099-29056cd3829e phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a8af52a-dddb-4044-80d3-295ddc266cb9 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d6aa95d-5a75-45f2-b153-36e6ed278c59 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:31da3c59-a1d8-4528-8a14-fab710cb457a phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4274c794-d16b-447f-b07d-ad7c0e89e9a9 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4f5ef6d-d33b-4a5b-8054-85bf6dc0856e phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0170c8d8-fb20-4519-8c65-6ca1099e555e phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a94122b7-30d9-4958-b4fb-9c689eb1aa16 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:675ed83f-67b8-4e19-b629-36a61e0046ec phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5c299a8-d71d-4d36-8dcf-3413faed4684 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d050caf5-6419-4ee5-8525-a7e4c3baaf3a phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49f54290-326c-469d-9f74-5f0015542c34 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8413f9ec-a08b-49fa-ad50-e25d3da6abad phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8838262e-b133-4f89-b1f8-858d570b1b99 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a5380247-eaac-4db2-99bb-02616e910717 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39df92cf-141f-43fc-aa91-46cab12a379d phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c54b645d-bea9-4277-89dc-789bb6f3791d phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:36ef55ff-ff1b-450e-9fbe-2cec7cd3d347 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0b4ced3-5b27-4c23-801b-8377d2590bcc phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b77b642-17d9-445b-8c5d-b3c7fd4d694a phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:909268db-372d-4084-8d91-54f1ade1fef4 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b4b6310-b6ce-4f6c-8376-ea478f7b507f phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da37f59f-846b-41f4-b032-41e18a7592b0 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:723dfaa3-01dc-4713-8b14-522d5f0f4068 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57058d72-08c4-459d-aa5c-7142c643400d phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4dc96b26-c85f-44b2-8d40-fc6907086733 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:888145f1-ca5f-442a-bcfd-e525cb9c1134 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:32d5b327-557c-4891-868f-d72bf6f0c581 phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:f388ac54-666f-486f-ac31-8629072eee7d phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:99284b61-710d-4286-9505-9e284aca544c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d0db3b04-1cf6-4371-b0f0-1d9d6c4426e2 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e829189e-6760-43d3-a048-4d821b758851 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0f017ab4-f84b-4b8c-a117-2c573b0cffa6 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:77984563-7d92-472b-a0d1-56df18e61974 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f74ecad8-ef3c-4e7e-9b28-042f3d326b59 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7fcd2cab-6870-48e5-adaa-c20991e33ba9 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:956cc1c8-0203-43c7-bd14-ca72f4ad6c22 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5c2f5478-f14a-4873-a65d-ca185d62e1ae phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:45351a88-22dc-42b0-9e21-bad57ea32547 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:51489226-c88e-4342-bce8-6e7513784ee7 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:31959e95-698b-458f-87cd-2a387b66a91f phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:1f0fbff0-bc07-40a6-a538-28c2ade088c2 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4888766e-c6f8-41fa-807b-66842e15c9f9 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95735ffe-4a8b-42f7-ab62-bf51977c76ef phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:54ded11f-eb2a-4999-b1ab-9fdba61bfe21 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce66d47a-6381-4be8-8acd-b1f3298b9dd0 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d0b7c1d4-e1bc-48fe-8f47-6fa22c228645 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca5a8189-ac05-4253-97ee-64f1e9527bad phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b022ca0c-dc84-4ff8-a384-a06c875c0863 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4427560c-30dd-416e-83a8-24e576260350 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b45a968-6076-4c26-b443-d586959816c6 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:712ee9c4-4e1c-43d8-8bd4-2ad7431e46bb phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c16d52c4-5e50-4ab2-901a-82c9433e0998 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:be628e6a-beec-494d-9b7d-c13c802524ae phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2847681e-42a5-42d2-8fe8-c0af8e2abfd6 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10e4befa-9e3f-46df-8320-1e5c863fdf89 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae19290e-6994-4202-bd0e-190477147b9e phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ddf116ac-d3e7-4342-8ad6-91a4209b9e42 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b64aaad1-dc95-4ee3-80d7-e7e96437ebee phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c603e6f-d2bf-4915-903c-5e2a50c2e270 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fb3df9f2-0b81-4a99-b1fc-52c6f585ccd3 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8cdd4025-3b5f-42d6-a49c-519298c4a565 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2524a2f1-985f-498b-8218-b6dce167be37 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23619538-c4a4-4db5-97ee-d7187a4777d9 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0029071d-dcd5-4f6e-ba6c-708d50396d5c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9a525900-5218-4767-88a6-7fe8d88abd52 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:27fbabd6-5311-4af3-9daa-52206088d693 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68be406b-3cd8-42a5-9960-36d76ce09a5b phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7debc452-c697-40cd-8d4c-09248fc1d6b8 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39c13d88-8b23-4add-b59c-09a1828a604c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97a7deec-ff55-45a4-a977-6f100672d93c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cd3b7184-ea15-4979-8909-51c89173c2a3 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b2b554e-9913-4643-a055-50fd2a64df0c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bdfb0ece-f2c8-40b4-9368-64bf5aec778d phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4bc37cd-d404-4dfe-b41d-ac234899696f phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93744712-a8d5-43cd-a1de-d7966ba8f313 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6fff9ba2-d656-4267-910c-40b10adb1d0e phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d9a5f81a-72d9-4b74-9957-50a65658ed74 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9cb90f57-70d4-4ec7-a0c9-e6daeeed39d2 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c6b2d7b9-da67-40b6-bb89-9dbd479ca834 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:888e1548-d70a-4663-b21e-3e0bc74df338 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:15ffcc00-7bd8-4052-9384-176c2b4e8db6 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83e995ac-eeb9-4a19-a0ef-00e824fe6f49 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d3c883ed-296f-481b-a955-8dc072e7b799 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87f444ee-11ac-4315-933d-766cfeae8553 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6144d76f-68b0-4c60-b024-f4bedf439e4a phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ddb787bb-631d-4bf1-9e22-67215acde22e phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0ad7af67-688a-4d14-8de8-ebc969d9fd93 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:492ab5d0-abd6-438e-bebb-139af6a6403f phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:066540ad-5c1d-45f4-a9fa-68f468de384a phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0226b962-de72-4a2e-9076-f8981bd2a135 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:895787b2-acc7-405c-9b48-9442f8e567c7 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55758c72-78ac-4d5d-9b7b-96071c25ea3d phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c71bbd5-6a09-44ed-9145-7963fc7a8c06 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4cbef0c7-85c1-4bd0-bfe1-6c2cecbf16c9 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eca581ad-9d7b-4842-802b-75a62a82cd15 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4f7e3197-391d-4c2b-b940-a9e0f86342dd phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0c48230-ed3b-43af-bf84-bd5783467013 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c19dd9e7-3392-4e9b-b66a-015824c93409 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3663e29d-2cc0-414f-845a-255b3ea290ea phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb92f21f-383c-48fd-b46d-c25f0ba50b68 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eae914c3-d349-4c6a-80ac-f1852333c9ac phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb388171-dd7e-419d-bb94-31c36f164367 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2801af14-8cef-4f1c-b5f0-437f1e094c76 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:284c519e-caaf-46cb-a6f8-9ecdbbad1754 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6e4860a-6bba-423e-b5eb-1073e4a4c837 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e4e086b-3025-4b54-a4fc-2ffc352437ee phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f9f3414-6a42-437f-9a8c-0d92e0c57b4c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:927e99cb-75a6-4d2f-88fc-467960758e11 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d1c28cd-6ab4-4ae3-bcad-6a220fa03fb1 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d61254b2-dd17-4e97-ac8c-cc92f1b74d4a phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4156e87-53f5-4ed6-b51d-51fd0f57aa3c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:df5b2de5-fdef-46a7-a3a1-5574348be64c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0e4332f-b5d4-4e56-8cdc-66d1564e9a6a phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e0a2e07-9902-4e06-8986-d8da43eb2012 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6b2e9d1-515d-4e74-9f0d-964b00e3298b phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c7716de7-d9eb-4af1-8518-2f74fa65525e phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e3f7f56-ff33-4fb0-a178-37485004daf0 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3c137ad-5a1b-4660-92e0-dd8555dfcea6 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:32e10607-b74b-4b73-ad74-e8dd2bb4d96c phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e96aff26-2968-4f4c-8676-357c8c6023a4 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bc5d24e-d527-4156-ac19-f7e5f4a6208d phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0aa499ba-d817-42d0-9537-4c3097a1b17a phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3b354a3-b8c3-481c-b178-8b8c19e83572 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:055ca80f-fbcc-4ec9-b60d-0facf410814d phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:614bef95-2779-46ee-b17f-0b3d0975b355 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:32a3faed-1c16-40c7-b0d1-621fe3583c76 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38cf4891-74bc-4342-8c5a-2f634d4c8b75 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:540cc2d3-0183-4b92-8d7e-845d2375ae74 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:14d5daf9-a67b-4136-bf08-e1b4c0d05a51 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38c6036a-7543-4c09-becd-b704dbe347f5 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aea9150f-16e2-406e-8c21-3ebbacc20ab1 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53624126-7901-4f8c-a9b2-2079d0af2997 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39a3d4f9-315d-4ad6-a356-7bf083dbd68b phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:d43169bd-8c1b-4dec-b64c-e5a059fef1b0 phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:71464485-a7f7-4325-bdeb-eae1e6ef7226 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:869a645a-9f7d-4408-b4b4-a2b6e139a497 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e5eb759e-dfc1-444e-9653-3e3d27db4131 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:40c8c529-7cbc-46ee-86b3-40d77c781137 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:48d85b20-003b-40ad-bf74-0761f0d27cd5 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f08dcd9e-cbab-47b6-b72f-300ab23f7a42 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fb33fc4c-1e85-470c-9dc2-fe02f5e45fa8 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:38dd3060-266e-44ef-9447-33777338783a phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a15187de-ee79-4560-8297-01caa89bf6ae phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fc66aa55-f28b-4612-bb0b-da98489f70b7 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fb47470-53b0-48d2-9bfe-b0b57964ac10 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b171170-4971-4939-9d87-5d8865fb7879 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bdcdc06d-e936-4fb6-a1d9-a67b2ac5686a phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:295bcfc2-4ae6-4e0d-be2d-fd23134d4dde phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:91205f1b-407c-4ea0-8383-bde1bd63b3c1 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4a3cb894-5c6b-4841-835b-d83e7091bc35 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9870151-5d10-41d0-8f1f-764581d68f95 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:328b2bf9-01af-416d-8ffe-bebd32292783 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c83dfe0b-a7f8-48ab-b424-65b49887f1ae phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5ce889fc-61ea-415a-8a39-b3faa398a02a phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9857e246-f024-47ec-a6af-1ae2401e7ede phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3696c58-dc3d-41ae-8047-d50300bf8b59 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0753ccbe-b820-466b-b293-c4d7eed2bd29 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c09cfc3d-6877-44d4-b7f1-750881e837fb phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16b9618c-bd5d-41b4-8484-b4cfd221384c phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f7d2a39-de71-4ca1-9972-6c2f0ac1c6cf phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8513ebe-53a9-4488-b56b-e68b254de3f7 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:505fe92e-2331-46c6-82f2-119e6f5d1682 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8400e1fd-360f-4baa-9eff-2166742b2b38 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c7422cb-b2d8-46ee-b77c-9da49a41c8b8 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a667670f-293c-4d41-adf7-bd713e86ea5f phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ff9bf95-c55e-48b2-8772-63efc1ea3a04 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:875d269f-062a-4494-8c8d-9ff2d78f9f1f phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1411236-a621-4861-8d86-579ec3d4936e phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ee0da93-95b1-453c-a725-8255f828e3f4 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a30e3a53-b908-4ffb-9813-9fba12a682b7 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61ac6b75-7142-4709-94c0-6702ba9c69d8 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a74a78c5-99ed-4a90-9e14-41ed59e03e6d phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efbfe82d-f2a6-44aa-8209-b551f352c51a phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55582d47-b8ee-4e68-a671-5b70df9fb9c3 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbc0b659-ea8a-410d-85f3-0f1a98c54ad0 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08583bfc-6a76-4619-a366-a5c4d9306f7f phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2feb4296-464a-47cb-943b-c26daf1597ca phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6f16fd08-86a8-4bc4-8cd3-310edb83aab4 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:28c65fb1-48e9-4574-bf26-dab5498dd90d phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:158b35f4-2a21-4e31-9b9d-44810d7319e7 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a35cb9e-33b8-495f-b1a4-9c324b02e2c4 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ce4a115e-9032-4773-ad65-e03cb226a347 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b0fb40f6-fbc8-423e-838f-eca2cd948cec phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b08a1e93-a5dd-4acf-bd35-742b66ae54c5 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98f7e0b3-8381-4e36-bbc8-f7fdbf45912b phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01ea5beb-7938-41ed-9ed7-def7994b30f5 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc9a4684-4ab7-4830-a132-6626ca866e80 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26da7229-9dcb-4cf3-802a-9a9dfc1d4965 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2067e145-3721-437f-bedb-8ca44864e13c phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba5c3ba3-c97d-46fa-987f-fc1c57c67765 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db75eebe-9626-4b3f-85fe-b766c12254c8 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:423ab435-c870-4650-b4f9-24c8fde02069 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae51c12a-e9e8-4e51-8892-3c156e95a683 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8790b8a1-9de6-4c67-b935-60f45726aa78 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8cb4aff0-ad6f-4f15-b431-97ff81799580 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da3ac7b2-9d12-4a37-b06b-8fee382dc29e phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:59aa994e-bfb5-428c-9173-87f3507d1bc5 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d869a57-6e88-4be5-9868-fc62fcdb1fff phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf29f650-0bc0-4da9-a8e5-40da2852728d phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e2834348-3fbe-44c0-93d1-c7aa88fda06e phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b5444de-e0f4-40d1-b68a-92d89aca9f0f phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:10b9ab25-831c-4740-b15b-1f64557ad45c phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:adfa3a79-5d22-43c0-9c60-cc8e41a97a6e phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c9fa54a2-2b02-49cd-952f-de9df9afe3c7 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:daf05db6-ebaf-4c22-97a4-5d849f5d5da6 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:009b3f18-ef6b-4ff7-936e-8d2eea267183 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c55e2a7-f620-492f-b84c-2c0c7ba62d56 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8eb7f8a3-ddd2-49df-bb47-5c51007edfa3 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:545b2915-e8f3-4f98-9c62-f60389686555 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9d4317c2-471d-4282-b92f-ff345032fcfb phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c72ea6cb-3837-4f17-9d8e-810662776120 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:54334b5e-0f4f-45a9-be9f-ef710c8da657 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b5de614-e068-4306-9e46-afe6b171d2a3 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a4d5073-e45b-4cb7-9c92-da73898da079 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff6f93c4-69eb-4c8a-9335-13444dcec474 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71bc6008-efbe-408c-94f1-8dcd6c448faf phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3cfbd2e1-d26b-44e0-93ed-1f29d530b786 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f50b1541-b427-44c4-8800-885126f0e2cb phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a5570f0-7bfb-4f89-b61a-a12e911bca58 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6031c514-e114-4463-8d8b-2ccfd9a589b7 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff27496a-3925-42c3-b5ed-6fd5784ce7ee phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2a8da07f-a42e-4741-a0a0-704923f0a745 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11ce6461-f781-4c25-9f22-d6230e3e8fba phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c2284753-33f0-4b17-8e72-0ae5782f32d3 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c774a6d-02a9-4a73-bb47-998626e38a9f phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8ec9146-f8e8-40f0-a679-831c161aa258 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ceb51c55-61ca-42c6-8b15-5069fb17b1ba phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:feee29f5-6365-4595-8c41-f6a08fe745bb phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:219ecded-21fd-4156-a897-a2e0d014d2ac phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f92c35a9-19b1-42d5-ac94-b87f5e35e160 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1de3f3be-4715-4599-8097-1257a3e76370 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c780646a-d7be-4901-8f24-ecdb90ef370e phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9f68eb8-4c12-4078-b210-767ad8a7ee57 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76d1de7b-4804-4185-b773-eec1abb02b8c phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f9f2235-090f-436b-9e23-920d6b7b3a2d phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87202e97-50d3-49dd-a624-fc2b7d0f4c2b phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40458d53-3a55-49cc-b5a0-c5e679973abe phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d70cd6e-f665-4ce3-98d2-ebdb5fcbe22d phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6cfaa62d-6d8d-48fe-a6bd-39985cb122fa phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ae29fa32-ad7c-4a4b-82e7-89f5a7964f6d phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:554115eb-3492-460d-b052-395604284e70 phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:196d3ad0-35f4-432e-96cf-d19e3f0b3dda phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:27078cda-26a0-40dd-bea7-e04e9df19134 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ab11744e-fa48-4735-8bbe-5cd377cc3cca phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d0897d40-7fdc-41fb-a1ff-234e19193bed phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8d18ad14-6894-4b6b-9194-1a50e587e148 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:db73924c-7530-4e9a-965f-9644c255489b phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2365efd6-6ce8-4f0c-9a04-9b9d14e8eb4c phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0ff66c45-718c-458c-886d-ee46ee062e51 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:29174cc5-c370-4290-8c11-3bb52d870b2e phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:48a15ab6-a653-4d6f-a1af-8512cbfd5512 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6d108f0c-1cb7-4de0-9fac-eb80526d8e1e phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bb46cae-6dea-4c18-bd6a-1c576c065d87 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c739c76-48d3-4b5d-ac83-d2fe8cbf4212 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7cfd0b47-4207-47c6-8c9e-0f0cbfa934c1 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c24e565-b9fb-48a8-b6ad-5eead7ec2926 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47f0d6e5-e13b-4f86-919d-b67bee0cb3e0 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5945252-6004-4389-acc7-91cc19366ffb phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6a41f9b-1ba0-4d97-b1e3-ff5fb7e1e7f2 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b001ac2-823a-48f9-8af8-8411eda18c46 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c567c251-5df4-4741-b000-786d3f02b338 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6dc71e66-6aa7-45c4-b3d4-647cf1f82ded phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1475a158-4b21-464d-bc4b-514bdb6718fa phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9ebe5e7-d4b1-4b05-bd2c-ba3646430b03 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c6b31a53-0071-4480-af76-6b8f8312c238 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:16f63c1c-04c2-4f48-804d-832c209570ee phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b3ce39db-55f8-4f5b-9f52-b04461af6a7c phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8a55ff95-b2f3-4a95-9450-e8839be00e2a phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2026b222-b452-4ab3-bb21-530023148659 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:77e476fd-7c18-4ab0-a102-2be3cf7cf7e7 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa6cfa3a-4cc9-4150-8a53-13f8762da6ac phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:793c283e-d4ae-4075-a921-90a90bd18aa1 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20a85904-a872-4d5f-bb5c-1a5518a03e4a phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fce39610-8d1a-4ce7-aa4f-b730c084ee53 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f311b9d8-601f-43f0-a888-60fff1e1c221 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aafe8407-d8c4-4f68-85a3-2953936e3a88 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:acda27b3-b82e-494b-b1d8-3d8486cf9fc8 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b0bdfc7-9487-48f3-bb25-a6124fb2dd24 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2ab317e1-fd56-424a-b361-c26b4b21c6b4 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d917f0a2-4d99-4e00-b070-0a1f5cd3a527 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1b9efdf-8842-47cd-bafc-2537a528b788 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:39422b96-8d54-4f6b-bf9c-ff85ac5ae24b phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8365ebc3-bd8e-4721-a196-3c35fcdabd38 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e15a6cb2-843d-4f37-ace9-74b98fe61a7c phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34cadee0-01f7-4037-8822-f59e94331548 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f42da9f1-97c9-4951-967a-59ee15c5493d phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9f717249-9e22-4f90-9b3b-44ac7fc183df phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c74ba1aa-11f4-4ef0-b3db-8c2cb7bef8ef phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:602d3c30-3c90-4454-80ba-bc3bda75c0ad phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ba58ddba-8845-48a4-820a-399f4538abb7 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7c6caee7-9631-4d86-be1b-82d5873ad692 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8768b4ed-1969-448b-8742-f038a29ab835 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3012a158-be46-4275-aa22-a2ca38cbeb7d phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8910d60d-ceb2-481a-a4f0-39e5efe78cbe phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:617eed18-03d7-4530-93a0-e02da70d1d31 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f585b392-8ac1-48bb-93c9-d303f60eed34 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b9c1222b-5095-43b2-a75e-29de93449f7e phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e9060d4-2b26-4eed-912e-840515ef1188 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95a93c7c-11c5-4a7a-aa14-89849d5ccf95 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2b1dad6c-2256-46e2-bb01-30ca6d6a8659 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb4b3418-8c91-43f9-8fa7-6deb6ff627a1 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bdf1f6c5-e8de-4923-958f-1a5284ba2d5e phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:173553d8-535b-4bf9-9fab-74f847ffda17 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aab2ea60-8209-4157-8a99-2311763f579a phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b472946-d227-4532-b4ff-51fa55390c13 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:177e42ae-941c-4a94-8aee-b095a787206f phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80a3f139-882d-42a4-95d7-812ddc8d0d34 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8cb00835-39bd-4181-901d-b1d9992442db phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b55ae40-616f-47e1-ab31-49abee47e636 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2291a042-09ba-46e6-aafc-02edba6d9963 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e146d92a-e782-4339-88b9-b5f39acf54cf phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0f18476-8b17-43e8-ad2d-8677274b596d phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9904e2cb-44c0-4ab9-b0d4-318db59d26c2 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:624b3d70-c342-4189-ba8b-b0088ccf9553 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a2ceb7e4-a828-4682-bd01-6f9de43cdbd6 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bfbef657-8803-49d8-a7dc-f1d3423ac350 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6e19cb73-1238-4dfc-8e45-9ad4b428f513 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ffc6434f-128d-438c-87c3-d23d27618638 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:639f56cc-9ac9-48e2-acbb-47954d1fb607 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8312024-e02f-4e94-9ea6-9e37c0d54c33 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc8824b0-25e6-46bf-a297-145d6ce90796 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35f09d23-3f5d-4a7f-9a9d-da6a3ef84199 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cfdf9027-8fb0-411b-a210-48414013daf7 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f06190f-5aea-4c1b-aada-f8048c126bd4 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53cece6a-a70f-42ff-8bed-bd91f9a7038d phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:64aa5beb-5058-4b03-b712-32cf60b58aa3 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f60db079-7b44-47de-89c2-787d988412d3 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1a5324b-9ed2-4244-88ff-ec7d30a6c808 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b4ff85da-5b4c-46d9-89ae-ec4dbd413a4b phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc642732-d1d9-49ef-b49b-2f46641969ed phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:813f7da9-baf5-431f-9e8b-b4dcde3b5f78 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98183184-4f64-48a1-833b-db6ac486996a phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a0c72b72-1a5b-49c4-a635-d46fe1834cda phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c64cc7fa-5c4a-4513-979b-7aafa2e810bc phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:42ce48a2-5969-478f-a885-52c8df3b4ab9 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83ef461a-c3da-415f-aea1-3ed3b4fe6c02 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:40bb7500-9b00-4eb2-9862-bab775962c22 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b31da889-4086-48da-b804-2e087ba971b0 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7cfd3d90-1848-46f0-a380-e4695736c54b phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20f29363-bfe0-48fd-b3e9-cc9fe4b6dda8 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:68902af4-3cd3-4d7c-b7d0-8d8bbbbadc78 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:06bff843-da8c-40f5-ab9c-5ea98dd4c21f phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:79b159be-0d36-45d5-b829-cc10539b26c1 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25c1ad33-fb15-4b7c-a8df-ae335f8ba1c6 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5a61aa2f-ed24-48c7-8244-daf24f69d1f7 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:342232b6-0e9c-495a-bac2-03655776b733 phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a611e50b-272e-46cf-a384-b27f94b6cb0e phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:43550346-40a9-4f92-b631-24b499530d6a phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:c127d58e-f9db-4a94-8012-c50c4487a286 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9deaa2ab-57bf-41d5-8978-d6e31ae38687 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8b46172d-97a2-4b37-98f4-a67198d0c081 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cc653246-23f3-4ea9-978a-19c7bd092da6 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cf958a36-e7bc-48e1-8c13-3b5573c2360f phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:36082e03-20c9-4cea-84c4-a830f1c26b16 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9b7ebf2b-18d5-4ff9-b0b0-a0c32eb71258 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4056f447-cbee-4311-b40d-7b65c46eddc1 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8e8d9491-679d-431d-aafc-b9ff3921fa70 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a59fa9cb-7ab8-45a1-ab3d-e8f970f8a056 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:f9007a70-09e4-4a3e-84ea-a44e2a4b8992 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cfb417be-6c65-4f65-bb1f-6a1c6ce4b526 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:55d2b2cc-e68e-49c0-8799-b0aa5359866a phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:602510dc-3d3f-47d4-9b4e-473fc0ba8d5b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7ede9460-19cd-450c-8fef-e904cdc22a80 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65003aed-3126-4fed-a2f4-fbbacfc46d4a phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:70b1c9bc-6ce2-4574-ab1e-15e6b66d384c phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f675539-1cb3-4d46-be80-2db0d5043a1e phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1fd6a2bc-0d83-4871-92cd-782c444c1627 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a8decd16-9b57-4958-b05a-8baea676e261 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7000977a-7f3f-43fa-85ca-58087ea5d05f phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c025334c-c64f-40a5-87e9-5f0e06bbe4ea phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e4c0d053-8ca4-48f5-a683-22772b4e11ee phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af4e99be-b42f-4598-98ec-11e67dac6fb0 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbf66844-a174-48fe-b2d0-ececc49d2d0b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9bb3ca69-c9a4-434c-a46f-5b258df814d9 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:afe26195-eb5d-4929-a38e-9c582f7bbf1a phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1af8f83-1aeb-4fee-abd2-5f40a46d3364 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e3390da2-5c42-4148-b8ab-002793f68362 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:03b73aa6-9daa-4690-b11c-7652c71c93f0 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b23390c-1c40-4e8c-8b64-2ae7f3de340a phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c8aaffd-6592-4fa7-ad81-7b46219c152d phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d325388-4bca-4deb-bbdf-8840f4ae1fdb phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:264b65f5-acce-49f0-988b-2c3a8693961c phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:afff1419-0bb2-4d36-8807-5ce3d5f6777b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65c5c678-ee5e-4569-b14f-e2faa8b7ef92 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c0b1045-94d5-48d1-a936-881c46f9fc8a phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1f4bdc9-7fe1-43c0-acb3-a315589200a2 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a3dd7d8-59c8-46cc-9060-8ffb6e9a81c7 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:38291d9c-0318-4ca9-91ba-08533ebd9483 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:65bb3047-beaa-43ca-8028-73b026ddf78a phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b9f6bf7-629a-4f09-b24a-cb0cf9d0ae72 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:330776fe-fc89-4741-a663-398ba1797e8b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f0a7a2b-538d-4779-bfad-1c3b5e01a5b6 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eaa73f52-9079-42b8-be31-63764a814cf9 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ede30c4a-d4ad-4c7b-8622-9ee4d6077200 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0711e34-66d3-48cb-ab41-aa66a52f5a95 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b26acb3-04a5-4404-a20a-834b5cd92d78 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:074b7990-69c8-4dd0-9fa3-104d6994a93b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f3905c28-a0b9-45cd-aec3-e4a9352d7095 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4de2486b-1915-4b9e-a5e5-ae630be828cd phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5dc2eded-72d0-4ed3-ab28-5a9400c9a847 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e56dbf2-f22c-41b2-851e-cc40a0e54844 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f684c04-6c47-4331-9ef6-7dafa49d070b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25b779f3-d576-4288-b384-db6e96341ccc phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0226c2aa-2060-445e-b4bb-d060881307c3 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f812acc-005f-416a-b5eb-35e8be7a5bac phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e57c9c6c-de59-46dd-8b6f-1e3f9f457d19 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7939c0bc-01fc-48d9-a312-288db90ae590 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd6d266d-cdee-4418-b454-2f1ed2e6d0b9 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fe16a9a3-5748-4e43-b3b6-94e05c7f5de4 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:490d91d7-c450-47f9-828a-a5a11e232617 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b240618-46f1-428e-887a-17f04617c8ef phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ae2f445-03dc-43e4-a3d2-6232d8ff08df phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:47f9ef61-4dfb-4b0d-af30-6f3e826a39e9 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b6caf16e-abd0-4a31-b197-879d712c4271 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d93dcc6-497f-43e8-bc17-addda2deed59 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:351622cb-ded4-40b6-8c34-70fb9ceec10b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:09c21e85-d737-4f6d-ac62-a40088da8459 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e17bd31f-d572-4904-bf90-0d7146e5460b phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cc7fe01-af48-4695-94b9-75f340e406f4 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00f6398b-0282-4fcb-ac83-09368b3773ad phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c85b0802-1503-49a4-99c3-aaa1da1d95d7 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eb0a074b-005a-46ca-a00a-0af56b80ea36 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2327af20-9122-4292-80a1-8a83256a3e2e phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6b47375a-3f6d-4a42-9a17-6a7fbe16a65c phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45680613-2d9a-4a8b-8497-37cd4262be61 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec5fc3ba-749e-4198-a180-85aa54695db1 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d4d1fd7-94f3-4659-acae-36712f0e0854 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:636b1e9e-67d8-493a-bac1-a012664179af phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5caf873d-747a-4624-81bb-4af3414e90a7 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f7543794-952f-459d-9c52-5c961656bbfe phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a1f641ba-d36c-4700-b553-f2023ef99456 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5cbad835-f9b0-4570-b568-a7bf0b5642c0 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a233344b-4295-4138-af65-9a7268af5292 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6eff890a-d5fb-4817-ab20-c23ca7d971d8 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:eea93161-b3e5-471e-a4a8-c77b34733d5f phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cb1dbffa-3e30-495e-86ec-da506bd8f686 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:69a29c8a-d201-4a12-92e9-1e768a5ed1eb phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0e7e19a7-ed95-4b8e-a5eb-6d02c202db66 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4b2593ef-387d-49b2-9ea0-d640ce3c2693 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2d3cf593-de95-4965-825d-1594cd1dd927 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f5dfcff-088b-48ea-a3c5-b27e407cb294 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:239a4cbc-d7dc-4256-a891-d68964fa0176 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97c82fbd-bb55-43f3-9364-5ba45e770566 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d6ccf496-18e1-49c0-bae0-ddab62510362 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:70595617-7ec7-4278-9c00-ceddc03817e9 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72df5d25-79d7-4312-9deb-d3016540d238 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c8e1215-9601-49fa-81ca-9144b7aa7092 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:381a9ae9-f393-49d3-81fe-7b09e5eb4c57 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:440f8852-8228-4613-927b-46d0f24231ee phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:a90d9b54-9b41-415e-89a5-c20a7a057123 phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:93c52d9f-4a0d-4079-a08c-889e6bf515ab phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d7aff7ad-cd6f-4088-b632-e27ab1f55245 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a18a533e-0dec-4372-b64c-49cf87abd8a8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:867587d4-b997-4561-a2f0-d0bc84bebf4b phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e140945c-6915-488b-b617-b52cecbf77e8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:bc5879cf-da6c-4613-a1a8-1b7b9e773b21 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d27d0d24-4c8d-4d12-962b-9fdd765f97cf phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:53b56ff2-5ad6-4ac1-bb8d-c5bdb4d573a8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:54875e4b-7444-4356-b708-2982b728f9a6 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:84deed55-6a32-4795-b2ed-98a62e1d9fda phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8aa4342d-7180-4299-85f7-ea4ff29207d2 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:72b52916-262e-4812-ae53-8be5b37595ba phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c14b3472-eac3-463e-9f51-16fa46ccd0ea phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c91f696f-10e0-45a5-94df-c61a4c58e97e phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:acd3e253-df82-4ef2-918f-03cad69feec6 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc2b8f20-adb3-4dac-94c5-decd97beeee7 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a85a8266-f439-4e52-bdd2-55363ac328ee phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:618a6cb9-dcc0-4182-8b96-ac09c9b88724 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b8eaea77-62a1-4d1a-876f-e729ae583893 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:373045bd-fddd-4bb4-8d9a-0b31d7fd789c phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3e495a96-08b2-4647-97a5-5beda26c169b phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:faa2a799-d529-484b-bbb1-e5d4cb859599 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cba0f2b6-bb5d-467d-b836-10717e133da4 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0ea3920-3016-4d17-b380-c99ce9f87b34 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:767e3560-6554-4dfd-87de-c16d70fff661 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c015bf7-1bcd-41af-ad34-bbe462a07d36 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d7bfe0cf-3482-4bf5-b89d-550dc0577aff phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ef90645a-abab-4f72-8d61-4e67e0302a2f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:61863d0c-05d2-42e5-8de4-69db441c24d8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a0dc36e-eee5-40cb-854d-fbd88c7aa7e1 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f62de98f-33b0-4764-a114-6528b4e3c271 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:282e73eb-5b3e-4865-b277-bd3888223aff phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b59c42ce-534d-490c-b244-ffbdcbae6fc8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:744f4d19-6927-4d2c-aa11-0c45f547db2f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e16ab49d-a227-4d18-82a1-613f92690d48 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bbdf1cb9-dd20-46ad-a159-96b6ec31c3d7 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56db8673-2b02-4213-9711-fcb6bb7054b3 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:161479cb-9b3e-4d3f-a588-17bc30eba071 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:447205e3-1d24-4808-b25a-5f801ac298aa phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f74e5e7b-fd5f-422a-80dd-9922a45e5d5a phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80319ffc-c8ae-4775-8a04-263eab31a87d phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d442ce91-8cb1-4b06-9489-3f5592f0e18f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e402069d-0caf-4731-aea3-0f3b2e859e72 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:45a29955-22f9-4b46-903c-90e1ebd187e8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b8e1bb7-20dd-4010-8dbe-d6cf882f4371 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:73ca6807-2d7b-4b3b-9250-6eeecffce08c phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71ea5b9f-4c93-4bbe-8c75-b997dbc9c2d6 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6392b3e3-ae5c-43b4-a03c-3f5dd7b4370b phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a661385a-b822-4495-85e9-1751399b056e phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:afd988ac-d0d4-41ab-9d64-2e2d0fff8c37 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0c6b324-45e0-4557-94ba-ff21da5222fb phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b05f4167-8763-429d-90af-89340a053798 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bf217a8-316e-40f5-b0c6-2028877f303e phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc5fc7f2-2c8e-418c-b8db-bc4ebc4a6211 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:587f1bc7-f323-4c01-94ce-d44cb1aac886 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efdfc247-4225-445b-a9e9-6842c37af78d phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3743fa13-f244-4011-b4d2-8cc3a426d61c phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d01d21ef-5d62-4731-b399-6766c089d0dd phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ece4bf56-76a3-4a31-b43e-829562bcb60f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d5cf9e5-a713-4804-ba96-9e00b3aba1e9 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d03ccdf6-5d93-4bab-a5fa-58084aded508 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:59e1a847-73b5-4681-b1d0-adc3a3a627a5 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:05dcf1f6-9a1f-4ecc-89c7-674fb4ed912f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf954ded-c4b6-485f-ac43-9941a64d5e1b phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74b3f2c8-e8b3-4fac-8d57-ecabedc70234 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a4e5115-70a2-4ddd-93a0-f3da21b20bb5 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e4c6631-427e-4711-9639-e65cce1d3d23 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:853dd938-6245-45bb-8790-ba77c9acbc24 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:210b1d4f-3251-4434-b4d0-f90aaf45ab75 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93d31316-5b08-4bef-bfae-2057733380f8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bcbc8118-1be6-48d3-b650-6d80f080f09f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc11a6cf-3d10-4043-9322-6aeb850a1764 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b53aed2-4344-488c-84d7-f5271a3924a7 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9872dd07-51ce-44e2-b9d0-f191561f3448 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:34900aca-f596-46c7-8b90-b7a5073b83f8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f95f424-05ab-4044-ad2d-890c62f02875 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bb14681-eeeb-4565-aedc-6fd643eb7f56 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:881f472f-9279-4df7-92f4-a0f6528edb63 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f355e83d-1ab3-408d-b4a8-d037abcd31c5 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8bbd8419-96d8-4269-acc4-0b5f2cc72bc5 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bf6a1535-c82a-488a-8b73-076d87d0e726 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:685e7f6c-85a0-4a1b-8062-4cce7ecf2a86 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:230c6b24-177e-4ba3-9c0b-9269f58e7d9c phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25261f01-3d63-461a-8dd4-726bfa4e0e0a phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:396332ff-4b9d-4542-8684-72889a8c05c6 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3edeba3b-5c6f-42cc-948d-c4cbe1ef040f phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ddaf5485-34f3-4a1b-8b1b-07b9027cb76a phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:111c1086-d89e-4fd6-a5de-732dc35a79b9 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6db7a0a1-0593-4cc0-a6a6-5f7aa6de4227 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8c1cd05e-735a-416f-abd6-1b0b51c62ef7 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:db3000a6-e09f-4687-9d19-5634a89c6799 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5a76bc3-5b32-4b6f-a06c-b9116be90a80 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c5ebf997-bd2a-4b16-a958-ce92dbe874d7 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:081ba5fd-9c1a-428a-9a38-f44f9a321488 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01532437-b4d5-4575-9fea-d4c0ebefc1ca phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a68fdbf7-30ad-4cc3-8657-752fdfd632f9 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d5dd2b66-8af1-4282-aa52-fe7000c027ca phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aac4e1b0-dde5-484f-845c-0c446b3f1f5b phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:082c741d-144a-4e36-b7ce-02219bf771d8 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88191715-3cdf-4552-8c2b-e0638ef71b18 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5035d6f1-823e-4b22-a9ab-c43bbd5bc4c1 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0bb08121-3573-45ec-a4f3-16c17846e85c phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb4ab976-6950-4912-8dc9-ba0a8d159f3e phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2709e147-b25a-4981-9fbd-e6c610267a66 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b42badc8-079f-4b78-a103-4c8c5cdfc883 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:6645c474-f344-4a83-88f6-70b69a05a2c6 phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:8dd0faff-9137-41dd-963f-b44a3189d893 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:427c86d4-69a1-406f-bdfc-47f7c1728d57 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7a484407-8fa8-4d6e-af37-80ef2a905406 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4507eed0-5e00-4cdf-9ee3-8464d1f8bae5 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4cc1ad6d-a2a4-4d1d-9bb3-b04cc53b87d9 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:4db6ffd1-59bf-411f-9653-c10f2cf1a7be phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:fbfe903e-63bd-4150-8e26-a7030261e767 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:51520c14-8ebc-45be-9424-237d11ba5021 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2897d2d1-c2f4-472e-9167-7d482606938c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:aabf9079-3cbc-41ba-bbcd-6af95da4c436 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:671f5c10-e700-4c65-aa3c-cf461b10af25 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:553f2dd2-f465-449d-ad13-254457fdf87f phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:98280566-df02-4700-abb2-6f694e32fa91 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7c21503c-95ec-47ea-8fd8-518acbb1b884 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8673e4f7-11e9-4440-88b0-35e03cceb142 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:93a46ba6-40fb-405c-a2a6-168385254416 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:3c9c473b-0d74-498a-b7c0-1f6248db6871 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cd92d21d-5f13-45b9-bb48-1dc709ec5707 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:c9e1373b-5758-4fb0-84f9-e9955ddc547c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:d2d97f6b-4881-4a20-bd41-c7f5a37e3fd7 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:7ee8f1f1-6840-42bc-b1be-76711650c75b phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71ba7ce3-8f72-4b61-8df7-6b8b175d71a1 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21acc984-0527-4a81-98ac-6ac38e54a30e phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c01037fd-2969-47bd-a850-be4366111be4 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5e6ae96-e2fc-423c-b6a0-795587fc05ee phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:664d144f-49d2-4f7f-8ad8-e1941eb293db phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:01157983-cdf3-4e53-b5c5-3d59f196b38e phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5efc3c35-a301-4fed-a007-e9a55b6fee16 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8ed07f75-e825-4031-b032-f4b35e80ceaa phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:58b878ab-ce4e-4be8-a17f-dabadedd0a6d phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1953231e-7e3b-4091-b3ec-5564910652cd phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa601e5f-606c-4872-a887-b3158a7ed4a1 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1885b286-730b-4715-add7-24cfa2bb2a09 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8e642161-c0dc-4a09-aa2e-c1c53a62216c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86712e2d-cb73-48b2-b712-ba3c7114a4d3 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:41d35139-6eda-4ed9-9c49-706bab008569 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48b50998-8f18-43db-afaa-ab14d25bd4b7 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c03d2555-7b90-4fa1-83c4-ddd0cb6195d4 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:baa76924-b426-4cbd-bc6d-92d5b93c5392 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a1e4d8a-2c83-467e-a73e-6a915f485e02 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af47720f-5adf-4ac4-b7c6-2219ba7ee7d6 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5055f07d-4345-4990-b6c5-1a8c00d9c59c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:80063e3d-c410-469c-83e2-87f6cbd10649 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca0891e4-a470-428b-9cba-db712c768c24 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:819634ec-d772-4303-b5ab-d5711e0a6b55 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8fb2e91c-ed9d-422d-b188-8e7734a71f13 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5f20920a-9203-4878-a4b9-f7453e84f643 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:14ba301f-398a-460e-8fac-789e75e5eec5 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d501a322-8d39-483e-b187-7c68538bd386 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:187d9684-249f-468f-9c32-750847be2aeb phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49b68616-0564-408c-84f6-1505b35d0066 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aa410827-1e77-49e8-afa6-29a0f9972d98 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6726156-5dc0-49c3-ab48-726f6311e624 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff89762c-5024-49b2-a230-712fb4817b36 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd4c3499-afbd-465f-a776-631be3244329 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fa1c8f78-8887-43a3-93f9-59eecc798245 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b10407c0-b965-4452-b166-ed975e85f4a1 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c23801f3-3a4d-4b93-885a-c160fb71b934 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85bff2d6-8b35-41ee-96af-8ce2d9d2d323 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76e16822-d0b0-4194-a775-bc12eb817ae8 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00bcb2dc-1642-42f4-80c1-696328c93c14 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:98b48740-96a8-4227-8957-adf9db361439 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9d6fb5e0-fc31-4f8f-8d96-acf75042a670 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e724af63-c6de-4324-9cf8-820c34bc65e3 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4bc3ff89-a12c-4c65-8443-5c57ea205150 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e51655fd-1424-428c-a4bb-6f0e5c94b4ee phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8769c9cb-a12f-4566-94ea-8c2926f2cd89 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:04c2c70d-c149-4a69-ab98-25eeb3b0ff10 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c92de761-3cdf-44a2-baa8-ef275139a558 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5648b4b-379d-420a-86bd-bf6ac05e2157 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de56ffe5-f179-4301-aca8-8a6ae7dee48c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3042d7e4-fdf4-4e65-9d39-7ede9262d35b phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:87ac9970-e254-4690-8de8-491ba03a6b8f phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1fabd77-639f-4105-a64c-9f790f9605b2 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ccf8b7a0-5327-4f52-a104-fdb6656be10a phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6fdbfaa-b8fa-4c0f-a550-84d5420ad8ab phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5c9ee03d-e845-47a0-884e-098e80943056 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74dced19-fddc-4233-91d9-a1b5c3e3199b phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:abe1971b-ed10-4c58-a257-4e8086aec11c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35d573a2-b173-4276-815e-f158f8b1d208 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a03364b7-8923-4762-9d61-2ad7916005c2 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e78aaf88-25c1-4477-95bf-5a98496ac74e phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:edd5d4db-97d5-45bb-b889-43d87a214f5d phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74bac765-3996-48ce-aa9f-0e52b5e0cfd3 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:345eec62-423d-4492-89ad-e5daca91b9a0 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86c8f284-33f9-41aa-a14c-a9b70f636757 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44e48125-2260-4e80-b586-8a1f88ed8e3b phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:451d467d-c2c4-4822-8ab7-edea92fc9045 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8aa06c21-c9ac-4d97-8b61-d48746d0b7e8 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9365515-ccf3-4b8a-b849-77fef6f820af phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd21c222-c57d-4b33-bcc0-edf997df1664 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b90b4a4e-885a-4ba1-9b5e-b9727f5c41cc phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:21eb25c3-af8a-448d-8df8-e4147420edd9 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f277cad-3e80-42a7-808c-04344128ccd5 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c977d25-694a-4780-a262-08fa295a362c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4fd4ad86-16fd-4861-b69a-3e5cf2abac9a phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12101d6b-fe1c-444b-9b65-d03450774ca7 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48311343-245a-4127-8841-28d4354adfd3 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83b479e5-47cc-45da-ab1a-c961f9e55aa6 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d90c16cc-d80f-4abd-9e61-d7b69b7466f8 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:410be99e-dcda-4342-86be-20b6cce55676 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51d04851-3123-4b98-a01d-c70caae14769 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7421d936-a6ec-4ef0-8773-ab5daa7dd1e5 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd57ec6c-c28e-423f-a37f-3ef90ee4d8f1 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ff95d194-2e90-4d27-b96c-d1be7b597d5c phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:bed8a42a-589d-4fac-8bed-1c4e75f78223 phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:29ebf10a-dd76-43c9-abbf-0993605e0eca phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:84182da5-346f-46bd-8f65-494149119ce8 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b227512f-cac8-49ea-8303-aaa266b6860f phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:810f4034-0d26-4cab-94da-708c833217d9 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:de69ef0c-e3c1-4a3a-8fe1-636bade7c7fa phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:69e703d6-5d50-444c-846e-1548053f9b1b phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57701c07-617e-4899-bfe4-0b1877ab7224 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5238730a-72ea-4219-9354-1c2fe528a1c1 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:de95d33a-3454-4661-a115-48507372ff1b phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b5f33d96-245d-4e01-a480-4376fefd4bca phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:11923def-94b7-4ca1-ab75-7d00c356efd6 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6a30c461-0d90-46d3-83ec-2d29a0f1844e phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7fa18cb3-de8e-491d-b0be-6a1db798c481 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ca0b93aa-86ff-4bec-b573-c633a7d69940 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0f1ddbc-3876-4045-9469-49315902b883 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c399131-21a7-4167-adc2-7e341734deb2 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da45acd5-d2f9-4b29-ba50-6a9a8bde8423 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83a0eb93-f0b3-4b13-90e0-f837e0d85174 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ad8f24a-c584-414e-85dc-4be7f5318528 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:74e3932f-049b-4ff7-8cf3-f3a53704b7fc phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9835384f-8728-4174-bdbb-a9e68fef31e8 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bb1961c8-f361-48ee-809a-527a121b6476 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9fee0ba9-bf50-4a54-8566-f00197fce961 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37d78b2c-7847-4dc5-8cdd-570337bed8e8 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b1cbea9-2836-4762-9b64-c4ec933f0a41 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23c09d34-e9c6-47f3-bfc0-1df585ba16f1 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f12d9ca3-f1db-4487-816f-12ad62ab8078 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:586d6bce-d08c-4295-a5ae-8cbe027e822d phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b77819c9-85de-4975-815e-12734625afc4 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a87f12b9-98c3-49ab-92d2-613c66b6e639 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e6461b48-4326-49ba-9712-1479588a7f1f phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:70645255-aece-47f8-b4c7-678895686759 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:62098ac6-11b7-4eb7-9ffa-4de781f81c81 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1dfe1262-e961-4da6-b4bc-6a868476043c phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:33434e4f-4270-46dc-a1ba-adccdf4c4f5c phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:611479bd-4ed0-44d4-baaf-6a83e766e43e phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3bc3cbae-c067-4963-9508-8c4a2f820797 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3dba9299-3e33-48f4-b8c0-44013ee3f914 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9df61fe5-a8f8-4a41-9e41-d2815e7afb51 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fba4c03f-0b43-4ca6-9fe3-2139ebcf0945 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c1e9fd5e-c9f0-4a5b-8c3b-5f2dd4e77a58 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:24cd7500-3625-4dc1-b4af-1bdf159ab37b phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:56a49080-ee18-4902-b9d5-7e205dfd50b5 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3697008d-ee07-4e01-9217-9e10d6c4e9eb phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd7a42c3-6df7-4783-a417-3e35a73af90c phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c0b7ac67-7f00-4c09-b64a-d8806c85b7d9 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5fbb811c-5f1b-4368-baea-7335a066c609 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ccac1b8-e81d-445e-894d-8746f52fa155 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:25ebeab5-6625-41ba-9036-ab6f0d4db1b9 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1022d316-a750-42ac-82e6-4685e15249c6 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:48cc7795-927f-436d-8653-05428364774a phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bcd74dce-9bfd-41b8-9392-61de5b69dbf6 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55668256-4060-4578-9a0f-5bc747dacc27 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0674eb3-644f-4303-afc2-62734e2fa2ea phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ac7f824c-637f-42c9-80f1-ba5be19d4b65 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:feb76ec9-f304-4a00-bc12-7d6ef18eb51f phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ad5e130a-4d59-4040-85b0-f9d2961e8297 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:18c912fd-d920-4a3c-83f9-d87d8c21da4d phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:88990cab-7f1f-4702-985b-cc47eaaff9c9 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2f524149-6fc9-4621-8c09-181972135a97 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4365f079-b245-4358-a584-57b272f2ffe1 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:50b51f54-5028-4f55-9fc8-5f3b474f5e8c phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:173c0a78-40ec-4a99-8934-d14e938223d0 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8597f2da-552c-454f-bbbc-0f07fc24e950 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:edcf3338-da78-48a7-9a8c-b62e60bdcfaa phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:546936ce-e58f-438d-a48f-b77ae482b728 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8cac3a6e-830a-45de-9773-4b918d960a37 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:869c913b-db0c-494a-ab89-dc52920694ca phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4a82117f-6077-413f-a650-9213ef409425 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cad7fd93-4935-463a-bdbd-464d7e69e3b2 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5d1cacf0-4894-4a31-94e3-3fd2f583bb09 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7299c83c-5f63-408d-9e5a-94a2e40e6dfd phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d890f7f-f2d4-4c73-9fce-44d9b29ef7de phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ebcac8f4-d42c-46db-81ca-9928427ac194 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3de0d617-bebd-4e5a-bce4-94432875c942 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:72663dd4-8164-441c-be56-8a71fcaa781b phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:53b7f841-501a-41b4-a1e8-8496b8ce5624 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9456bbec-c0e0-499e-b703-3ade441601d8 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d994633-f34a-401b-9f70-77accf5ce8f7 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f50bd473-a952-4c2c-af70-d2f109ab1c99 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a3e874dc-83da-458b-a3c0-4f4349a50c7e phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9ead2138-59c8-41e5-972b-a6aab75dc3c5 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c48dabcd-a557-4f31-8b3e-6e885fbc5df7 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:96063e6f-41b6-4b16-af25-1e2ea806976a phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a62d67a3-9b87-4814-8629-39bb366c99c7 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71b224e2-3a0e-406e-9437-1299a27d381c phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5914229f-bf8d-4474-a51b-33e73d4f5395 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9174f53e-f4b6-45b5-8350-153bda7cfae1 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f70ae265-8f6d-4ba2-8f29-1089790a9aae phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76982afe-b191-4dfe-af7e-99bef2b0f698 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d1c2ac6-36ab-4679-b85e-ecce78ba771e phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:49f07b2c-239f-4c43-a714-62b2d4ef05a5 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07e6468c-60ff-42c6-bdca-7cf63927d062 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cddfc69d-e2b2-4f0a-9357-934ba236d834 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8b6d99f3-0a38-42d7-bed4-c2ffdfc06e4e phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2c2a7803-e770-445a-b8ae-5d1dc21ade0f phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:78179b8f-46d1-48d2-b18c-8d19dea58c03 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a4e9321-7e3f-49ae-87f7-b04969ff1088 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7f4cea39-bf34-4955-84b9-ee00ef017e19 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d9f53786-621c-45a6-aae2-635274f54324 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f19894d9-55d2-4d41-9511-9a2eb8ae3c70 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6c08c6ae-9404-41d3-a2ec-3167530deb94 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c67c8bac-cc7d-4271-8c8e-f98296a4e5d5 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:fcc4a8f5-1f06-485d-bd1f-4989226344e7 phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:3c883978-aa0b-43f9-bd96-174702ba7d6d phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9b813ca3-1542-452f-a89b-5b83392d3870 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:df371c22-7d0c-4de6-ae63-ed83384df884 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cec14c82-1729-42f6-b1a5-6333b20e6b53 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:83202d6f-9f9d-469e-a466-207282cf470c phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:0f35d778-3922-4e8d-9f75-24c0fe828951 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:03d50baa-a302-4b85-85df-984b16a557ae phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d1fcbbad-37d9-4509-bd67-6a5029d5b149 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a18f2163-5230-4e4c-81f1-9c984ed145e3 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bac24045-22a1-4aff-ad51-046b62cf4ddd phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a1c6eb04-a78c-47a7-984e-0032fcfff44f phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51c17f09-d98e-4fa0-9eec-9c727c664da3 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:520901e6-5e36-4a2e-ac34-363f2d352e11 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3b519afd-bbdd-48c0-9709-6079d460a45a phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:00bd5751-716e-46d3-829c-b031fd70aca0 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a20c8e03-4430-4bc0-bbd8-38f40c06d258 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:70e09247-7960-4b80-a50b-7014d3647d1b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4bb9ec81-c213-4013-a678-e3ec9d1c8c0e phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a7256508-de6c-4bcb-a771-e49f82967439 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b7f2d337-b250-46a7-b6a6-9223de4ed351 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6036d41a-8ffa-47d8-88c8-4908f681736e phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f5ecadf3-82e1-4f05-aa35-eb9ee1c756b2 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ebbc7c5e-c8bc-4b9d-a905-f48fe5c33c4e phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44e00582-0a33-4ecd-9a1e-fd0920d5c024 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:18430626-4eef-46ba-9434-702c539e77d8 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3f5b31c4-44d1-4cc0-9583-737e90128742 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:698e693f-bd5a-4330-8a34-aca4d1a94169 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2ce92557-5d4d-4789-8097-5325198191df phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d637bc73-1cfd-4076-b58e-6c30b39d4a34 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f7fd884f-ee59-493d-b638-f911b7e0d798 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:95ebe7db-73b0-4885-a413-cb5a1b4dfd36 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fd0ae0ba-76b8-40a3-8b22-28785da66ef0 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6bbb9c8f-121d-41e0-8b4d-be42707321be phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e8dee850-b3a9-48c4-931a-2077edac408b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cbfaad62-d642-4c25-9721-ed3119b39d7e phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:82868e7b-e5b8-48a1-8250-7e52ac3c7b87 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c45844b-3308-40b0-816c-72103e3b50ec phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44cc3ce6-d2d7-4973-bf1a-0a17fd5743af phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30a44a3b-b813-421b-bc4a-a1f56077abb4 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30ec0a65-94d1-4e5e-a89f-2c8e90b025e4 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:31f6aecc-cfc6-49e4-8e34-44da47ac4167 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1bdce7ba-9dbd-4db4-b527-b6be2193806a phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:178177df-f6af-4aab-b373-b9a5359f749d phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:424d0768-55de-4984-8ca7-4e2c15be84e7 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cc4eb756-aeb3-4f0f-9b3a-28a91078ef75 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7b978cc8-1333-4af0-ad79-05521c6b4689 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5b7ca3a5-a4bf-4f39-9131-9c6b3b80636c phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f4da0b5d-5b6c-4ce0-89cf-c9b389b1d1ad phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0f233e04-8823-4681-9a09-dd4f93475c76 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76dc7f5c-3f0b-41cd-8629-ea902077bcb8 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f6a13c95-e98f-4042-a8f3-1edcb7fadbf0 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:78e6f0b1-2db8-4d62-a25a-31dfb4026fa9 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:51a5be3f-54a2-4338-8c0d-5a944f0e74fe phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d69e5dbe-956c-4ed7-be07-22983fff21b7 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3df89468-1732-4823-92de-264ed55e84e7 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b8f52aa-d35a-4c3f-88da-08f3fa3e1ac0 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9b30a7e-ace4-440b-b022-f42ed23a49dc phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3414b4e5-0351-4dc0-8ef9-f79a7eba78ed phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f914745c-cc9a-4c7a-a224-6820d0b6bf3f phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:67de3f89-1af5-43f4-acd6-60eb337fa1ee phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e0065bb-8a5e-4d04-b1d4-e04c1342ca18 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e7622b9e-e2e1-43a3-8aaa-a73795e80c32 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:44e80df0-f154-4217-88bd-00ea0864f7a9 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a21295f0-1048-44d1-8927-e3da155ff42a phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29013e39-db25-4fd6-92ad-2a0800a23e67 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:31a79dfc-e9e7-4643-8c87-2d6aabcdac8a phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:284e659d-a08a-419f-ba13-be734147a9ab phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e52d970-0f7e-4d5d-83a8-2ce9e7323aec phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55ab642f-d9b9-4615-b520-d8bc9ce4b00b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:259cd8dd-44ac-4f93-b06a-f38354e8188b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b07f954a-d146-4209-9fd8-4f314c9f08a9 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b83b7b9a-e4d4-4c22-8deb-4ead52d97757 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bd74a605-3f59-4f63-987a-2d69c22b2995 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a17e7d49-9382-4f06-b5e9-32933abd85fd phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:35e8ed93-b321-4442-bba8-e92b32e368e6 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bc47ede9-2903-4859-8a03-91c0a5fcda50 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:37f1ac59-d8ed-434f-86bf-cb95d37fc959 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1c65f871-694a-47d4-a4d0-d6577d0ad61b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:08c464ab-0475-4452-a9aa-c408c161dce1 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f714f2bd-8e91-430b-9f60-630aa1f94308 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:12eff26c-a119-443c-9454-d2af5b827e11 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:748373cc-e790-487f-9c57-a898248becef phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dc16b8f1-3b7d-4d74-870c-5ae5e3091dba phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f8621edb-20f3-4d68-85f4-ffb8ed9d49cc phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:5db3db5c-99c1-4790-8004-45504eb3c91d phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:efad66bd-0eca-4953-95b1-61a9d1a5cbd3 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:079cadd2-0536-412f-aec6-bc211d2b7167 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0591fc2a-0ccf-4331-b7c0-ee66c60b756b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0a6d5c31-a400-4f21-92d5-941c547dfab3 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:968d46a0-92e2-48c5-93d7-b3057272eaa8 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6518a98b-c129-45c7-8ea4-cebc25b766f4 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:83e6c899-d727-4545-b48b-c1e21a18bc61 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8278a5b6-3a23-480f-b544-f6b62feba54c phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1ac4e731-6c3d-44e0-beb4-5971a0966c2d phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93e3761a-6011-4fe3-bda8-c11d2ad7fbee phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7bf135ac-dee6-4e0b-99f2-3774eb989ee6 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ed5c9142-9c75-4356-856d-9bc7c4119545 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23bb94f1-8b78-44ea-81e4-7376b8393a95 phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:fc8635e3-5a4c-44af-b727-604e8f86232b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:fcb63c7f-6ec1-4810-ba0d-62c698c8001b phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:4ca7c558-4327-43a6-94ea-b826eb4a045a phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:ccb2c54d-7406-4655-80ad-96b184a65032 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:e6195116-9610-42a9-8158-131339fa57a9 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:6c5312fe-6e4f-4102-9ddb-a881630d039d phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:b458bcf9-473f-4450-87e4-0a399ef949d5 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:65b2359f-7001-45a4-9970-f3e222626cb1 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:5d9b9fcb-9acc-412f-9b4f-62fdcace0e14 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:a66ca6b4-94c9-43ed-a9eb-af9f57f7174b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:421d0e84-e5ad-47e5-9cfd-e85942f98427 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:8fbaaa84-8c11-4090-b9e3-c5bbc2b6f1b1 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:2dfb0268-82a4-4389-9825-6be5da852ad0 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:cc8a7c2a-bfc7-426d-855d-f8dc0f100024 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31239556 uuid:9ab70beb-02f3-4319-b789-344bd71586d4 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d06d081-5f46-4e84-b2a3-f316cdcd4bdd phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:404bfe7a-7bea-46b8-b4ca-ac05bc699192 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b148e942-5a64-40d1-b5bd-a3e9820f130e phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:97029327-ecb3-4d21-8eef-ef22fdd84e87 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:615ddf95-e7a0-4d44-a164-3ded2fb68c39 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aeab97ca-570b-425c-9814-0ee94e378e74 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:20ccbe4f-17c4-497e-8cf4-d0aeaac2ad48 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d42c5937-ffc6-4833-ab27-439c9d57205b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:17f62c8d-5ad5-4b32-b4e6-1104ed7d6867 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:aca7d3d5-a9c7-49af-b613-0832e98bcae3 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:86a65fd0-70ae-4e09-9443-720d037bb0d8 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7a18a226-b1d2-47d4-b21f-72729fbc22f9 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:57171c52-3020-497d-84f5-bbb4817efb0f phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4d52b46e-ec5a-4338-8b3c-b9e9c7cbd070 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0c24c557-338f-4c88-864d-98be3e620766 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c70d3f3b-9679-419e-a682-52357da19f80 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7d1058bc-8603-4b0f-88b3-6a53982b514c phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:93378da5-0cf9-45ed-81ac-e4323f760df2 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:50255e82-b0c0-4450-bb02-f047afdf11e9 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f9aa9557-0b38-48aa-ab4a-2ae738ba42b8 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55cf09fe-7766-4a4b-b766-3ab84d992ffe phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:daf99fd3-16c8-40e0-96fa-40b4e4cbbfd3 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8f016a01-cb1b-4a0d-b897-6db098520498 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7af2ab27-2c5a-4ef6-87d1-3e693f77d214 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9fb719e6-171c-44e8-99a3-fde0a2bab775 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e146d14b-76a7-44b9-9e8c-fa16de528744 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:71dbe51a-1dda-4018-a36a-80773ae68541 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30dd5810-c78e-4433-85ef-f30cb0f3e068 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:950cca01-17f6-4698-a981-ed932cfdf764 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:bcdc0f6f-1e81-43ca-ac01-506a07b39b0f phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:26db862c-0999-443d-9ab1-454281e66ff2 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:da6520a1-387a-43ae-a4b0-10860b336122 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:76e76ba3-8fdb-49e7-bb38-1b13f71399ea phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c591e202-93b3-4fe3-b79e-721b95ba8ffd phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1a494cd3-419f-4186-8135-d4f7611bc780 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:355375d6-d0f6-417b-835f-d0dbb4f4fe3a phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b36f718a-9e57-4f0f-ad6e-d3ace2b9ad53 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:7e7bffa1-5134-40e6-83d2-cad7deaafad8 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a40da5ea-55e7-480a-9f9c-100ece74cd45 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3d6a9215-009d-412d-893f-d46b719456c3 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:0b2e2ca6-6a6f-4897-b48a-c831100c32f0 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a8603d9d-b1c4-4bb3-9150-01be08c062b4 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:8d66264d-663f-4606-9aba-6452d4c7074b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e0bc6fa8-a647-4cd1-8fe1-447af07f4aba phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:29c9d612-186e-4f11-be79-97b578acac31 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4e2c3966-9b3d-43ee-9754-f9b6094d2a1a phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f2f9084e-c45d-46ab-8669-c95a90c255a8 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2431b96c-9667-4e5e-9f11-b71bec9e66db phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:6ce15f69-c72c-40df-9604-f9ccbcb67994 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:85c9bbd2-f84b-4a65-b927-12adb79e052b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:351e7020-68be-4d18-af6d-fbe6770b6304 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3a1797eb-0a01-4cb9-99a4-e8c88b063820 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:742da6d8-0be8-4847-bc3c-fa92b135632b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:259cc3f3-e103-4d5f-8db0-7043473850ea phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:267bf9cd-b4fe-42a1-b2cc-508178678cc1 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:af023600-a415-47e1-9710-d3454a83be1f phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f0974ab7-6f33-4e2d-8eee-aca615c9f4b3 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:55f31c3d-e67d-4f83-ac77-65eea2a87242 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9c949f23-2c6d-4808-813f-d8e735c528c0 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d2995380-7e2a-4a72-9955-f3308889f0cb phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:b7c3f11d-1bd3-43e0-9c31-c9645ee1ff5b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:233bba37-1c26-48b8-a275-afbce45b1988 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:30c2eb53-5fd4-421f-a41c-a1d8ba5ccd09 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:1b85f799-d9dc-4b42-bd05-d85e685b8191 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9aa1cd9f-7b1d-4854-b6a6-67989eb1f48a phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e50ce04d-6c4d-4c63-aefe-b63c3c963b65 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3c9a957b-92aa-4ec2-9082-236c7bb9c1aa phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:884b57f9-d9e7-47cd-b7a9-3c6a81cc5f15 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:f38b8c37-79e1-49a9-bfa1-878496cc5e77 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:c40c6356-a66b-49dc-b004-28e0abe751fd phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:dd747227-9bb5-4927-9803-a65236b647f8 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:07465588-63de-4287-9e85-9690ccdf7e76 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:097a0446-a4bd-4415-8fc4-4ce96331648a phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:23a69817-74e2-4c72-9d84-01c5250582a1 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:654dc909-d287-4144-be7c-8e9296b2b807 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:ec629c96-9f5b-4687-91a1-a790f5713e0b phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3bcf98a9-ae8d-4c96-86e0-1b9d8a3961cc phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0008807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:3270a323-717c-44df-9ac3-6612bc3b2628 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:63a1a718-ff5d-4434-9d7a-bb000608b970 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:4626102c-ca88-4d8f-82d7-6d2bd89e062d phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:cf3ce22b-659e-40bb-a245-78e7c3aa7652 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:481e9164-40e6-4fcd-8abc-3229ec459675 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:e1488315-7c54-4eef-b608-9f1311564ca0 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:a08637eb-7a95-44bf-96ab-ec84afe7724e phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:9b8aa455-b2e3-4c4f-a4a5-f6047a0df955 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:2436042f-38c2-4164-aaeb-c65da0b5b2db phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31239556 uuid:d22220f8-1510-4c11-8947-f3c1c77fb6d1 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_disease OMIM:615502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:bc70f8a8-3d24-4395-9e90-700d41ce80b5 phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:has_gene HGNC:13723 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31239556 uuid:74a6fc31-8ca4-466a-bc54-44880ac189c1 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:b340534a-eedd-4c5a-81f2-cb3c9e1dc184 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:18a7016d-f59b-4c9b-81da-0abb0b9a195a phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:7aae5fd4-ae0c-42cf-be4d-c06824a5c4b5 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:63b10e7d-28b8-4b86-894d-ec047f8dafca phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:bf047ed6-f1f0-4cba-bc5f-9674d4852d79 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:16db2b61-fec1-4ea6-a21c-e0bcc59790ba phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:81059e90-d8aa-4705-add6-25d28d480294 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:f3160b65-ac3a-43b9-91ac-09f5ff08d705 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:c690a106-37e2-4233-b9c7-4ee7b178cc31 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:08212200-3ab0-4a89-8fc5-d48498d10bfa phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:dd75ed8f-0ee3-4416-9460-5237631fcfdd phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:f9d03084-1d87-451d-8480-d8b148b682c8 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:04de75ef-123f-4ab4-b5cc-d412c3f46ca8 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:ceb6fc40-1603-403a-8f72-4ecefc8bcade phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:fdbc3e0e-45b7-48ee-a472-45714a04e319 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:1379683c-0282-43d4-82fd-712506cf498c phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24769197 uuid:8bb04107-e621-4bcc-8946-18ffd043c91f phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0010729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24769197 uuid:de264f06-46b4-47a3-9037-ece198afd776 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24769197 uuid:eae5b2dc-09c4-40e0-a6f5-05ab7349580b phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24769197 uuid:9bcb3ef8-2b9d-430e-99b8-adbcd33add49 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24769197 uuid:ddd10e85-e5cd-41b8-a779-a48ecbb702d4 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0001014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24769197 uuid:ee87972c-1762-47bf-9a52-6d4ed68f3de0 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_phenotype HP:0003355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24769197 uuid:6c0d4fea-1e65-4670-8e6c-7606423ac062 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_disease OMIM:256540 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24769197 uuid:f2ea6895-cb75-42a8-94a5-3b3c4457a775 phenopacket.store:CTSA.PMID_24769197_patient biolink:has_gene HGNC:9251 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24769197 uuid:7ad32dc8-2586-49f6-adf3-87b6155e2cf8 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:385e6c49-c17c-498f-a128-ed2e987defdb phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:afb755dd-6724-423c-9e04-80ee01b63670 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:eb029cc1-94d2-4480-bfe2-6d25bb1fbe4a phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d86a3185-5acb-4e60-8d0a-369b6aff5ea0 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0a7f9829-77ee-4285-8fa5-db2621ce2b50 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:96be70ef-9477-49c7-91c4-64f99d6529ef phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0ae7c996-2d1d-4144-96ee-d7f8edcc2e64 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:901956f4-cc11-45ad-adc5-87b8df1805c6 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0f759b35-0f49-4ecb-8e93-edd430903027 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:44eeffbe-ed47-402d-a7c4-480a16d6d69a phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:57c4d9b8-04e7-4599-9b96-dd244c4e82db phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:1353d8e4-9582-4bc6-9882-9e630006c745 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:76066a9a-92e8-42e5-87a4-ea0c738cef70 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:45fb042a-f111-4ba1-9b3a-44f5c5c98356 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:96620d15-256c-48cf-a24e-f4e1ea66e870 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:099f8817-59a7-45cb-b495-61718bfdaa9b phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:59b42222-59a9-4dec-8270-ee48f65e8b9e phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a94fbfbd-2294-43bd-9c25-ed9ca00c7a64 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ad432812-78f8-42b0-8a7a-495fa5aeec8d phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0145d137-9fb1-4dd5-b159-431ce58bd96b phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:2b8722f9-ca77-447e-b0b5-86ea0435754a phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:297d8b4e-53f0-426e-b219-533d1689e295 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:adaab9a7-ff01-470e-809f-7ccd9da6655f phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:269f37bb-4531-44bd-812c-d396e812a36e phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:46d5ecdf-fa09-4bc0-8a95-748bbe104045 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:1f211ff8-48d8-4d09-b428-2f3d87bf841c phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:baf44057-5cf2-427b-88c0-ce55b5849c11 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:68a91961-c001-44df-a45e-64233adf820a phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:e2aea205-f110-469c-831b-1d446d5865a3 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bb3be4fb-0949-49bd-9185-1e6af9570268 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28285769 uuid:a4569f60-a2b7-479e-b6cd-7bbcd7594e21 phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:5ed4e8b9-e6c0-420d-8981-16843608c2ee phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28285769 uuid:23c246ba-e9d7-445d-a886-ccd87978a16f phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:65a4a956-cb33-45f4-ae01-70828f8df665 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:e0678075-6640-4d93-9304-92041e06950c phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ca77a960-87c9-4764-8a85-5c6c568c6917 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b8136afb-0466-4fe6-8a39-27c1e0a6f5b0 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b813623f-c27a-4599-93ff-6657037f7a16 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b26896b0-50ee-4446-9993-30783a77d19a phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:05302c06-8b40-457f-99ed-d73443344a21 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:9447c006-cb11-41be-9dfa-0288e83d362f phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:be4841c4-8029-441d-80e2-7401f621b3cd phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b5a9f2b6-128f-45dc-b597-bf6b30917cdb phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:294c311e-93da-41b4-a67c-a4d6664f05ac phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:58346f1f-da3a-4e82-bff5-a2673e64c24f phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:6b8889c3-b1af-4d41-ad09-d0d2c4854f70 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:13e6d151-493b-45c5-8902-30f735753292 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0f6789f4-17b1-41f5-a11c-b7408140e4b2 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:df0ea0ec-5a4c-4b22-b0c8-20aae57182e7 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f4cb3435-dde1-490d-8cb2-9c85376154eb phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d1c2dfbc-6e5f-4e0d-ab4c-8c0daa9009c5 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8daa230b-6d9b-4897-a15d-577caf7125bc phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d99c2516-d36b-494a-93c9-290f07b78f9a phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:2ceb8f5a-adc6-4921-a15d-bb6fb6d53603 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bf4a4a3c-dbcb-4d1f-b4eb-b964676771ed phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:1d874451-49b3-42a4-9a44-8b12ff47d0e6 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f4448230-a53b-45f3-9d64-f640df509af8 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:dace4253-9bb4-42ac-8e75-52eb27901c83 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a7a50d1b-a9db-4edd-8b22-d29d0b14e67f phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:dd6416e7-ea87-472a-bb50-53226b9ffb1d phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:166dd231-c83a-4658-91ee-e62c50a5a2f8 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:82b15d6b-93e9-46d6-91cf-9d28d69bcee4 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:28285769 uuid:f4b0b46e-ded8-48f5-8d6f-ad5172ab8071 phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:f158380c-3774-45af-9821-92e49b4baad2 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28285769 uuid:ead73bac-8f10-425e-8927-a469b7c402e4 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8d4e34d3-7d24-4899-bd0f-9c379490d63d phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:c25c6272-fbcb-4997-a3c0-160dba985e9d phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:677a8e8b-263e-4654-a61c-029658040b7a phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:a2bc7f18-f0e9-48a1-a800-41b14f34f50b phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:f66dc6a3-0ad6-46af-a707-ad0aedb410a8 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ad3a671c-fd74-4781-aef2-87f52cf0ab16 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:2eb5815d-ad76-473b-ab4e-c487f4751641 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8b8cb3f1-1309-4762-b21e-4f492c6426e4 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:3d16b497-2f28-486f-98a2-26d8bb1cb2fe phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:4ca8cc78-10bd-4a24-ae0f-acf9b4ecd14a phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:82b47b1b-c834-4446-bd3f-a276e081fc46 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:48e8d84e-262e-4928-a19b-ebbed38afe3d phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b46a1ab7-88c3-404e-9945-2ef5d51958c4 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a6fc5cbb-2617-4598-a4c2-022b1a85ce7a phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0489f12d-d0fd-43a8-8fc1-68dcea962bb1 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:22019560-e0a2-4210-b59d-873fce9d8e39 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:226b5d45-5c69-4882-903c-d04b60277cd0 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bbad92e4-182c-4850-9160-f73d590dc069 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:4eee9220-439c-4761-89e3-8df34a51a8fb phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:95347f52-b39a-411f-acd7-85fc4c7dee76 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:3ce23ef5-7ad6-4a4c-aad6-1129cce47f80 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:4e481e68-5fa7-4b95-a2a6-dbbce1bf0e45 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a93f837b-305a-4985-9416-84ab40afd973 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:abd01706-26c9-42c6-b9b5-9262e03a83fe phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:6f2770d0-345b-46a1-9ae6-46bf2e63e2a7 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:9d8a9b40-4154-4763-98ac-eebb5d3cf829 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:fbf31b97-11fb-41cc-91c2-9abe0e522f94 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:06cd27fa-237b-4f34-a98d-9245ff14fc3d phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:4d08db20-fb03-4020-b747-dd1a127a7a6d phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:96ac3f0c-020d-4c40-944a-47ecac00e907 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:8bb74ab8-021e-40a3-bb42-3cf003c7ba41 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b8419d04-f803-4d4d-9ea6-bed348d59783 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8a2b89f7-d876-441b-91a6-219732a82e19 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:0a59dfbc-4c3e-4c80-9d04-fcf195bdd0fd phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:c36f3664-2969-4413-a850-913bf2cf5aa1 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:d2298ead-d89d-4ead-a957-72f82f207933 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:1660b26f-d29c-475e-9a99-c984c31a6b8a phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:1555c4c4-7042-461a-b4f2-775f0da1b08e phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8c087d94-34f6-494e-8252-f449c2187e1d phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:fdcf42b6-e999-4d9f-8f7c-599c4868b4ca phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:386829b6-1127-4b15-92f3-aa9b6dc77aed phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:d5e88553-f24a-45a1-8d99-1d8473905187 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:c3601cc5-9dff-4e83-a252-8c72f4d6a840 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:23cd208c-4839-40b5-8b3e-6d818165959f phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:838bf31d-3796-4f8e-990b-cb9db3f3542b phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8f07a82b-472d-4f72-8cf7-8b7460c04182 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:efd09192-e040-4476-b556-a182f03362ac phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ea3feb66-1edf-4143-b958-c2bd41db889a phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8adf4c34-7331-4c2c-b336-38de8ec33276 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0edf034a-229e-4358-be95-9384832c94bc phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8f0292fb-227d-41df-b792-a8626da10777 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ac8d1086-c69f-4111-813c-55e523909b00 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a7cdc821-152c-47c4-9167-1812b83d506d phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:01ac3e05-772f-4db6-8c86-1ce565bddaa8 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d59175e6-c58c-4dfb-af81-6cc5e6d5220b phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:57768714-0100-4475-b6a8-dc91e1e17c9a phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f4830e03-9d81-49cb-ac3a-bf851f29ab9f phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a6c6cd8d-8084-483f-9f1e-172604a4e7a0 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8d7d5263-eb6b-4e33-9047-a940f78441d0 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d9ba4837-88a8-4c30-80ff-3924186cb54c phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:301d18ac-4874-4f18-b26f-b18f738d30d2 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:2d999f96-9ef7-4db7-a8be-661be9db2dc6 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:72ed02a6-6baa-4ac5-8f0e-089624ed24f4 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:4fdaa608-d01a-400d-85f7-3724d346bc93 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:58c9502c-5fe3-497d-8a4f-76d14c57a8ae phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:f43785e6-2331-4fa0-a747-5b55de46d272 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:5dabc6fc-68d5-4bc4-ab84-9ec30cc3dc85 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:02c121aa-85a7-4e80-a7b4-43d375a3bd57 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:bd68ba7e-8700-46ee-8916-58d603e314d9 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:9013718a-5ff3-4bcd-a4de-d70b124260ac phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:f7da2435-b68b-4b40-bc92-c29eb758f312 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:e70f7190-fbd1-468b-8dfd-f2a53868bde6 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ee89f9d8-1da7-4f36-851f-e2a7d3ee210e phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:f08ee828-e20a-46a3-88a2-f75a9d3b36ca phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:9f2a6dee-5076-4e53-8bb0-641f624d6197 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:751e0c10-fc30-47db-b8a0-c7afea6e32c2 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:3b1a2aae-f485-46b9-b6ae-ac29306e9b40 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:b30fdae2-9127-41d8-8383-6e738687fdf0 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:11ac8696-527e-4f25-a058-dcdc75dba57e phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a95995e6-fad4-41c6-8442-57ecf3d2be25 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:1c340ee8-172b-416d-93b0-039dbf82239a phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:be312a87-d219-4065-8dbe-ac52dab8f983 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c4eb5cef-efe7-4936-afbd-1c03da8d6866 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:eb63e5b5-56b3-44ab-a089-c3847c2a68f8 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:b235e9d1-d587-445a-bcb7-caf5771ab061 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bb901c38-f862-4a48-ba9f-3a60c1277d4d phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f64184fc-2f14-4c77-a659-e5321912f196 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:9fd9b6fc-ba02-4a5f-9533-63dc05379dcf phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c3687fe4-705c-40cb-8edd-99ed6a48e8fa phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8d83ab11-167e-4145-8961-f1224cc89e70 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:e80ebb45-d3cb-4cc3-9801-3e8ad0b0cb8a phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:23a32509-fa81-4976-a25f-d8743a4ab8a0 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:70639138-efb6-4283-9f2d-0eb0c2b3b2ea phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:931cc19d-88bd-455f-b146-7217ac1be6a6 phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:8ba03938-d50c-4e86-b3bc-ccea2c53685b phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:28285769 uuid:77da0d85-474d-4c7e-be02-bf23c7c5e4c4 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:06ce77d1-c950-49a6-b336-ff202723d802 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:cbdb1603-58d6-4223-aa2b-fddfa8889392 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:29977f23-a8ee-4500-998a-b1d060133b25 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:be0e95ff-5936-4b11-8cf9-00354d8e6701 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:dde6d798-4180-404a-9030-4ae6d1a97569 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:6fd54520-63bf-4b3b-8e26-89423e6b3c5b phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:c7534e53-c7b9-41c3-8d4d-72de1931d6bd phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:8eaf8814-48a3-49db-a37e-b155644a71ce phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:40802b14-954e-4c9d-b769-c0f0ee7b470b phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:6a484d67-b720-46a7-be27-2bbc806fc779 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f319512f-fbdc-46e7-9ec4-2a6580957b2d phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:1653a188-aaed-4ef2-bde6-06de3c7d8469 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d0d8c3de-4bb3-44e9-b895-c0172dfd9dd8 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:eab7884d-961d-4b16-89b5-299f99ebed75 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ef264adb-2785-485d-9882-75ca770decde phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:cf41a86d-aaa8-4c41-b86d-37054de0864c phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:099b3d9d-80bb-4afd-90e2-e9ab979674f1 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d4f34ed1-5fab-427c-86f8-850e3a42e1cd phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:4697e142-2302-47ad-a1c9-05705611a007 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0ee2ce5c-97c8-4048-a396-2c82efa82ccc phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ac06a085-a41d-4d7e-b772-209853f463bf phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:49cb1811-ca3b-48bf-a27c-173d42ba15df phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bb86b40c-e401-4487-9a14-acbe6cc00126 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:33088abf-4760-4464-b45a-39427ffd5599 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:e2f3b672-65d7-4492-8d20-bdaff51134aa phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c9aca691-ce03-4bbf-bb95-0125a9f9216d phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ccdd196a-c3aa-42ee-b5b0-e306c2110e75 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:d1d3b9c7-1d60-4e84-9c4c-275cb95fac92 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:06509af5-5b31-4655-8b20-57ffa08a0139 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ef4c5629-b8fd-4add-84c5-2c25a1672514 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:28285769 uuid:00d0a916-fef6-425c-8b5f-f2288ef2edf0 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:5b88ccca-38d7-4f3f-b8ba-8fede6f04105 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28285769 uuid:18a81c09-2a0e-405f-9f60-6943911dfae4 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:fe24debc-2668-46e7-8e3f-f922d13ff405 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:615de3c5-47b7-4764-80bc-137539e8102e phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:e77796a6-465e-4d4a-acaa-b1b99e1f3b41 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:48d8d33a-b7fe-4758-8c91-42cb9c2ff98a phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ec3a6860-5656-4f99-8b75-b6ec46788e55 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:cad5bb75-c8f4-4f2f-81b3-fc4d0c709a19 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:83b55315-ed66-4072-98bc-87151e199231 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ec57eb59-1386-43a8-8dd0-d17946bb7c99 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:0dd28ace-1575-4606-a365-ddf6b10d928d phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:d26b9560-3c9b-467e-8fa2-46489559fe94 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:1fe075ec-778d-4ef8-b3ef-a8680cbc8c67 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:506e8450-5dd5-41b1-918f-04570b35b1e1 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a002136e-c656-48a3-b2e0-747418018459 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:38d87131-9d16-42d0-b7a6-74840415c4d6 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bf6cd106-4ec1-49f2-9524-9bdc780deb40 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:93a90860-35cf-42d7-be0d-661b3ed91768 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:dc507d42-e85c-4cd9-9ccd-792e3581e4e0 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c9571cc4-2ed4-46d1-a2cd-51173d025da5 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:88648d55-4062-4101-9c1c-c702155126f7 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:7c79cbc4-3b75-4346-8603-7cc068eb00f0 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:75fb6003-1e0a-42b0-b368-15b395cf9f3c phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:282c72ac-a314-4a48-8985-e4d07c983afd phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ef220e7b-58d6-42ce-b469-d51c6ea8d7b2 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:875d0397-54c8-4ae9-b453-99c434bff955 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:74334fde-e526-49df-979b-4afe36dcc4dc phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:eeb0c845-09bd-4b8d-be32-d740e71df972 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:b1c38025-bcdf-4946-9f88-589a0a1a127b phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:77a4a021-11bf-4329-bfed-d12aa873f34f phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f877667f-cbbe-4b81-93dd-95dc2f1c8b48 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:43b4439a-54cf-455b-a6bc-c878cd8ee988 phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:96849061-f416-4526-b72e-5a9c2bdeed88 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:28285769 uuid:773b8db8-b979-40a1-a51d-3e98598a190f phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:a664bba7-570f-40a2-bc31-2d7fffdec8ea phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:9ef4fa54-2179-4dc4-a9ae-ce38d0e91888 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c69f370e-f687-42a1-bd85-502b00fc82d7 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:93268aa5-3dd3-4f96-94b6-60cdda9a68e7 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:69ed49ab-e5f9-4e84-b66d-05353c7cb0e6 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:5f246c15-7ff7-4c7d-a2c5-96e694216153 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:bd18e279-64c8-4eaf-9561-789f1a90796a phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:90446123-0260-42e7-9eeb-ee54d385432e phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:9aec11e8-b09c-420e-8773-216929c26cda phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:31a67869-71a1-40d6-96d2-728aef19ad33 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:21769cdf-e4a8-4cd7-b35d-7e59fcd8b407 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8e95085e-e020-43fe-be6e-1495453abfa4 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a7488a44-81bb-471c-8762-a459d9947e6a phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:22c771e9-2f9f-4957-8344-5105d4dcd031 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:2870967d-b80f-408f-8821-bbed2b785065 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8f405dcd-9a7e-460d-bc14-ffb44b8bb3cb phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:96f2500e-73c2-484d-9ea8-cafbb99a9ec5 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ccfea2d8-4977-441e-be0f-024c7dd3a7ef phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:130efb43-ed7a-41dc-83b9-d5970ec8c721 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a5253ded-b119-4ffa-aad2-ac0899461d42 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:83ed981b-42b1-4d72-9b1c-7e8c67ca3ea4 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8bb49da3-04b6-46b9-a549-8ccf73fa8b56 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c9b11173-75e8-47e3-a90f-d91d0829e9e7 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:86803858-d51f-4d08-8129-10bab9db991f phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:7484d5ee-f60b-40ac-9cb5-42a455c54e90 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a9347374-8cc9-4a48-b945-3f3d168af070 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:12c95c67-9b5b-4dad-8c64-c1f688cebe14 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:aa727987-631d-4caf-b6a9-712a10574e30 phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c2d4e7a0-9674-464a-b80d-83023df4fe6c phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:739327a9-391d-4a40-8c3e-453d0335e7aa phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:28285769 uuid:5ac9892d-6d28-4cb3-9f58-67c7bcc4b0ca phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:171ba8f6-a88e-49c6-b728-0722a5c21aed phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ab89a071-94e0-4a1e-9b1f-8584cab165ca phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:bfe01403-dfb6-43e3-a0b3-0579ffca790f phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:e78a3f10-7372-4c66-8ed3-05a8f73316c8 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ae996c78-051b-489b-b82d-b5d8aafd95ca phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:acc7537b-af32-4f83-9591-f252877929c3 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:cedd2c47-074f-4ab6-9241-63ebe88b1729 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b082e3d8-8716-4698-aaca-9f9184eff672 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:373bc3a8-89c6-47e3-8c54-a49b9e2a0d02 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ad787be2-50c9-434c-bb12-8daca68a118b phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:96a08eb4-1042-4219-9e3a-3780ceccb77e phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:78e66a29-10ae-4774-8806-47551f989f83 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:74690837-6da0-4b07-96fa-a4b5685d2aec phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:28cbf6b0-1cb2-4c6b-b600-95bf52d7e0ed phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b761ee4f-1ec3-40c4-b93c-41042d056c74 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:82ca45ea-7421-4b40-948c-5bee98a7d977 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:071247a2-1c97-4f3e-8c7f-a6bb95189478 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:17f7c360-e7a8-4b3d-ad95-ea15030bc6bd phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:0cdfa56d-9409-437e-b9ce-63132d3a5158 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:6264efda-f5d3-423c-87cd-8017dd2c57ba phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a3f18748-5ff8-43a2-8c51-9b62b56a5bed phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:967fdd23-0908-4fb5-a6c4-eb6b66664e10 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:de94f348-b12a-4b51-90bf-43d464be5cdb phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:3ec57a66-30d0-4870-89f7-ced3cc24a8db phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:f6aaae6b-fc65-453d-94b7-23627d3784b2 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:68547888-3a02-4188-81de-7684960345cf phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:eac58f78-46d9-4d1d-81ff-62b3325c591c phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:127aa6fd-f9b9-49a6-bed2-5b8ada5d8a4c phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:7f590190-0a4d-4472-9f2f-51ea4cf90dc7 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:61836579-87c9-4457-9b6d-6d73d0cfde34 phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:957c8b47-35c3-443d-8e4d-1080142b758f phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:60fe36a5-16ab-41b8-9eaa-1f7e0450db3c phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:dfe346fb-5431-4b69-b3b0-f582cb12e128 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:28285769 uuid:1b1ce3ab-2a93-4345-83ac-9a11d93ef015 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:fcb4d1e8-c5e1-4706-88ee-c3d773a7fa20 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:b08d0610-65e8-498c-9a8f-bc1aeca8c0f8 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:18ca18ef-4e34-4f1c-b77a-4ca088aed5fa phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:62e11823-af6d-45d5-b1a7-b089f24876f7 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:85c8cd66-fd2b-4be4-8248-3eefccc4c7e6 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:ba47ec0c-795d-4c60-b316-be2c6516ed96 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:a22462cc-2f96-4a15-a718-643f253ccca4 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:a2ef7693-350d-4abc-a587-00bb7f5b948a phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:96c0d0c2-1dbc-4ea7-a1c6-eed743e1aa45 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:2b080a9f-f339-44b9-8d25-cca6ae2627a4 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28285769 uuid:94772df3-dc64-4676-814d-f04ed21e965d phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8f58357a-6528-460f-a40c-1addb9b8ae61 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:af4ddb6b-edeb-45c6-8ff8-c4230b8a5ffe phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:6000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:46ffcaa0-66aa-4bc3-81ab-18a498bd90e6 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:9fffe465-d25e-4b33-8e1d-db25ed1c1904 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ed3ca22a-387f-47ae-a798-4a13fd69e169 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:14f3fe78-cf4c-45ec-8b99-b1477845bed8 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a15ef52a-b50c-4039-bc98-0383ecea9cc7 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:58b013c0-5a2b-4026-a50a-a8ef2c1f7d73 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:ebfd06d5-a2f0-4328-b770-a465ea0f5e3d phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:54b190c3-89e3-47c8-bce2-86d3b28664ce phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:3330a2c7-82d3-4485-bad1-af324d42f5b2 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:2778dafd-2130-4186-a348-c7b5a84e571a phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:86c6c382-6700-4ade-93f7-8825319f7d4e phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:c11426f1-5dbb-49c9-a52e-bdabfc39bd4e phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:9e29ffd7-aee8-484c-a905-f88940aa4abe phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a231d12e-cf5d-42fd-adec-19c9001b5ee9 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:8933401f-dc6c-4d7b-91b1-64cea74adeb0 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:a0cd9feb-b6f8-4f8e-a896-fd4408734c97 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28285769 uuid:b4052f3c-90e0-47c9-8fbe-dbed6e61aae3 phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_disease OMIM:250410 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:28285769 uuid:2fce2341-5592-4857-bfb2-976b4f1d5cdf phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:has_gene HGNC:10664 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28285769 uuid:ffe7273f-a82e-4841-9d03-7664f46a6840 phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013430 uuid:2551466a-5426-44f4-aa85-609bd8cc363b phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013430 uuid:649f4d52-8e3b-4031-8906-b76a5a759c1d phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013430 uuid:a929842e-8ca3-42c0-81a7-555a05013bd3 phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013430 uuid:a632b5d2-ae49-42ea-b65a-65507cb504e4 phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_phenotype HP:0012865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38013430 uuid:bfd2fc2d-d64d-413a-bcc6-bd9b9db07458 phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_disease OMIM:301119 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38013430 uuid:c2128a5b-c51b-4270-80d8-19ec443ca817 phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:has_gene HGNC:2582 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38013430 uuid:7bc09492-9b7f-45e0-87b1-8168215eb3cd phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38573307 uuid:abb2ecf5-c284-4cc6-9244-598a0a07a7c3 phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38573307 uuid:6b474e92-a431-4569-8189-2819ca75e89d phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38573307 uuid:2f415358-3baf-4543-96d7-7a4401b298bc phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:has_phenotype HP:0012865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38573307 uuid:30a529d0-9054-4428-9fe5-8318e72bbd6b phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:has_disease OMIM:301119 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38573307 uuid:f6ebc925-c92c-41ad-8878-c6a777ae531d phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:has_gene HGNC:2582 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38573307 uuid:5ada5699-fe8f-458d-ad37-9287d9e5c3cf phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4724c879-2f63-4696-a550-31fb74212ec0 phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:98d8b0e4-80d4-4988-924f-0cf7f356d2d5 phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:16207579-980a-4a10-b4de-b05bc97a7f56 phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2cac3360-fda5-462c-a1e1-c96c1bb95b4f phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ccf972fa-a5a8-48ef-b87c-bf595f5a74dd phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d7a08cc9-fd25-4bc7-a66a-f22ee6ffdeba phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:348a744d-a71a-4858-9ce9-2523d634c712 phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:30968594 uuid:ba05b964-e80e-49b3-b463-c9a3858552cd phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:bf77ea98-e96d-4f79-ad08-f11e0bcdb394 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:da3208ee-45a7-492a-bdde-ea5873018118 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:21bb711c-d0f6-490d-8252-b43c24c70df0 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:2b520472-f0d4-4ffe-9022-c760dcdfe8cb phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:56cfad2e-5dc0-4906-a2e3-bd6348e91121 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d31f0861-7f11-49e0-ba34-371e57c083f5 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1b3c058c-76fb-4878-a79f-cf339ff6476d phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:9039d043-6b96-464f-9ff6-e288c500bfb2 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:e67387a3-d07b-404f-8f54-e9ebda6af705 phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:1c53e739-fb57-4acf-8756-f8b4af4eb2ba phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b8cfbb5d-7ec5-416d-93e5-73766624db4e phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1c0e0d44-4177-478b-a5e0-886d6b6d9af4 phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b756fe11-6365-4a78-ad46-bdbed208137b phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:34c42359-c680-4b2b-9a8a-870f36a1f317 phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:8ffb9849-bbfc-4a9a-a012-55c940f7c201 phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:289833af-dfcc-4f23-82c4-d7e11b683d07 phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30968594 uuid:0ab17029-5818-4734-9bea-6e51c9ba4033 phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:0c0f16c2-fc74-40b0-8122-59dd55a312d6 phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1ee2884b-070d-43af-9e81-d7ee82cac7e9 phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:dbcd8da7-8537-4ef1-a9ed-3c2b7dcca1dc phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:997b094d-b14e-4577-bfb4-f8b27025710d phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:c51dde67-2767-42eb-9a47-d02f1ad70d29 phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6baec4ef-2da1-46cf-a0f3-a9ea2e80271d phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:67457fd9-7ba7-4fe3-bffb-d6bbafb6c62a phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:a0486a5c-bd5c-449e-a9b6-33a4a83b2162 phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:afc3f9fa-a63b-4e91-9bd5-b7013f976080 phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:82010ae9-dbb7-4cc5-98f4-924495ec1ba1 phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:923729ab-56ea-4642-809b-44869461184d phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d5248649-61b6-4a9d-9d45-7adfb57a5347 phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ddf313ed-d0ae-403b-bff9-3e9be4eef2eb phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:86b47346-4ea1-486a-8296-10b9a6f0a5f9 phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ef2229c1-1513-4707-81c6-137de868cf0c phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:2fa70ef6-a0f1-4e1f-b2d4-55b649935901 phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:76af96cc-8850-42be-8bf6-076927526907 phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:85c7437c-ef22-473f-857f-33c340a1ad0c phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:94892d13-aaf5-4a33-b89b-4b410547580d phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0001061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4a18129b-b1f4-4b8b-9ae3-c9c37cd910c3 phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:dcfef0e1-a438-4656-93bb-0efbfb863b44 phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ebd36661-d2da-4448-8d05-e44a716ceb1d phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:8b7b9cc8-7570-4d98-a32f-87aa43bc478a phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c0d4d0fb-5aa3-4a64-b784-955d352fe023 phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:df555281-53c1-43e8-b0ba-72e5dd1d5f5f phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:30968594 uuid:bb163992-b411-47d6-8fb8-668af68813b4 phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:a20752fb-022c-47b5-8e94-24f9d4de11f9 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0000789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:e5299690-3a9c-4481-b5cc-7a0faef7c496 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:8d07a0d8-f514-490d-b0cc-e2c4c7c1d3f3 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:56ae71fc-49e3-4ed7-a1b5-a759dec0b232 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0810675b-c52a-4b43-bca3-7e562f2b05b2 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:2f86112a-bd08-41ff-afa1-a6673e1bc6c3 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9ea6c6d3-f223-4920-9d62-96fb4884336c phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:6c50766d-e2bf-4cc9-9a8d-61a4afa75c40 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:30968594 uuid:f855bc85-2127-4cb7-8531-02289da94a62 phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ee2f6f25-6354-44c8-aa5f-25d5d7f692d6 phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:724ea3e2-4b16-45b1-acbe-fd3c7b98fac4 phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ba448d9a-e77e-4704-9c1f-4d655c9016d1 phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:e0a31ba1-b2f8-4adf-9f93-537bfcabb6dc phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:3f52b562-4490-4d34-b483-1dfc5cccb776 phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f1428bd8-2b02-440b-8853-c8a20846c30d phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:d5dab37a-e904-4435-8569-cc6a3eae0ae4 phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:88e69ce6-aa8b-4427-9899-4144211d3066 phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:bf06b6c7-f9c8-4dbf-be8b-0a73883da9a2 phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:abd115e6-d53f-4af7-b931-efa8c1d8687f phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:bbf1e2f3-ab5b-4a64-9f04-e22ee6b94c8e phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:bf3f3dd0-3a1d-41df-9551-9c2fa094baf6 phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:75481c6c-994d-4bff-8eaa-2f8667a8246b phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:61d2312e-413a-475d-84ec-4f288649668a phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:35e4e9fa-9d70-40c6-b191-31b6058e0e76 phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c55a9103-f7c1-4510-9e93-9b78c4cf0ec5 phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:8a142997-d72f-4ccd-bf6d-22fc842e8cd0 phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:c8114f5f-762d-4d05-98e1-2ab62fafc5f3 phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4fa98c92-2c85-4c05-991e-499a5059848c phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9a0ff9b9-2bec-476b-b579-72301320feb1 phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:54ce414d-c77a-4768-bcfd-086b916b907a phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:813fb405-b29b-4b47-bf1b-2be56be1a526 phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:11e58eae-1144-45a3-a05e-249fb4b74f50 phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:d0ff63e0-2fa6-4d3c-85be-e1c2b54cc18e phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:59f2ab92-cc54-4d06-a51c-ca5b68ea5b6b phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:daebebb8-bcd7-4ddb-8f55-535fae8cfe83 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c2c507bb-1590-44e9-989a-a73e2370f161 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2218f87a-2515-48bd-ae57-99a67695c322 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:eb8cc26e-9838-4c0c-a0a3-25807d47111d phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0fab50c6-bb03-4f0d-9c0b-3627873c8ab0 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:b8c4843b-3817-40db-b58b-27c14187c9f1 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1f9b4c78-f1d3-4846-a383-0b01cc3fe456 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c6bf6177-30c9-4188-9315-b3ad97df6a6e phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:00932707-1115-481c-ba34-db1ec3a13581 phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:4aa21273-62fd-480d-9bb7-40b48e6c9354 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d92f424a-bb2c-4acb-9055-d9bbce5d21a5 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b673151d-27ee-40da-975a-2fcfe2ce4da9 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:eecc1a95-89ad-4c96-8e88-6e2824144180 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b999de3e-a527-41cd-a24d-dc1b22ceda57 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:8db251eb-417a-4cb6-b199-8f6546b2eda6 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:886a8b81-d0fb-470d-8b14-4f09024ab189 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:033222cf-14c4-4a9a-8f11-503cbe60b4fd phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30968594 uuid:e74a8beb-f8ef-46b7-acbf-0e779071b3d4 phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:f51f261f-646b-4c40-99c8-38029fe5ae0e phenopacket.store:CYP21A2.PMID_30968594_individual_29 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:8bdb720b-cd3f-4a0e-a2a3-ce6b0c8cdf18 phenopacket.store:CYP21A2.PMID_30968594_individual_29 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:e57e9fa3-3a35-47c8-8893-1fa7814c92de phenopacket.store:CYP21A2.PMID_30968594_individual_12 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7fcde16e-a410-4ccd-940f-57f83b5eef40 phenopacket.store:CYP21A2.PMID_30968594_individual_12 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7c99370b-d4e0-4722-92fc-630585a2010a phenopacket.store:CYP21A2.PMID_30968594_individual_12 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:d7921f9f-c5ab-4267-bcdf-4a36483735c8 phenopacket.store:CYP21A2.PMID_30968594_individual_12 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:6952363e-8b0a-4601-9f8c-72df16c79374 phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:90a2f07e-8dc5-4c57-a8c0-4a446682ddcd phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:bcdf12f9-6cef-4ff1-863c-1bee035587a8 phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:359b0ced-25de-40c6-89dd-ba4a28335f32 phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c2387d6a-9f8b-4e68-b92f-79856d3b346a phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:86033a12-e1ef-4635-8032-65766e1f2e12 phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:1c7cf552-7705-45ad-867b-7551df9cf032 phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:dbbb9de8-ef37-498a-9b39-03f1c30e9889 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3c2abd2f-a155-4a3b-8258-c0238318f9d2 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:f57a166d-706c-4269-a87a-7a1324691d69 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:d7aed86f-2395-46ad-8f67-c0729909e319 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:746b9bb1-66d8-44bd-97f2-05062aeabcc3 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:fd3a6d31-43d4-497d-8c1e-3cdaa80f43c9 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30968594 uuid:9cc3c4db-9647-4b5d-a7e8-238dd6262a87 phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ea6d501a-b89d-419b-a7a2-43e14cb279d8 phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ce9b151e-0ec1-4427-8bf7-219919fdb81d phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2e6160ce-259e-4bf7-a2fa-fe44f4b8dceb phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:b6598355-ec51-4fe4-818b-a13c74ff04d0 phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:a7a4cb85-b355-4312-8ff6-080e659d5f1d phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1a1ecc95-fd3d-417b-8fc1-0b6dc6891010 phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ae0de4c9-777b-4025-8214-40941b7c9656 phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:741f14ee-323f-456b-8073-0952f4b81bb5 phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:c733c484-0992-4f28-950e-ef2666fbe54c phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:97b9c74c-8944-4dd8-937c-3c2b633cc2a1 phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f0e53eba-e430-4ca0-9bb3-c84019143362 phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c43f0b21-8806-48dd-9393-600c0b807990 phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:623c4938-aa4e-498f-82ea-dc7798d2fead phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_phenotype HP:0025134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2d5b506e-a82d-4d27-9508-9f6bcf018a55 phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:b41dedd5-9578-4a1b-bb40-152c19e2ba29 phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:b3038ef2-568a-47c5-82fa-02360a0050ec phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4f10d39e-349f-4b26-bd23-8a0b1f175de1 phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:dda9587f-f716-4b76-8543-f58375f78a31 phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:17cc56ae-13ce-4152-9a66-da6e5e9d8daa phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a8143e4e-3bcb-4ac9-8e60-8ac072c9bb4e phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:319267b6-5271-42ae-8923-f8f8ad3bd7b2 phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:bd783276-95b5-45f3-9b69-341c2a224197 phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P20D infores:phenopacket-store PMID:30968594 uuid:bc884837-9b8d-4049-ac99-74acf7dcb309 phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:22d88985-3e2b-4e60-8643-a1d63ef1d8e9 phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:628b72a9-9571-4610-9509-fb6152a1f1ba phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6afce642-93d0-4975-ab16-2f0c3aa31941 phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f4c5efe2-51a8-4876-a45f-329cb259c1f1 phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:febefe72-25e8-425f-a2aa-5faff1546170 phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:04af02c8-70e7-4f5e-b7de-34617f014ad4 phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:7d57a1f7-b72b-4e69-b1fb-f050cf1fb17d phenopacket.store:CYP21A2.PMID_30968594_individual_49 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b4ff131c-b761-4009-84e0-fdca243fe2b9 phenopacket.store:CYP21A2.PMID_30968594_individual_49 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3967dbc7-e5eb-45ef-bc69-4eba266c0be5 phenopacket.store:CYP21A2.PMID_30968594_individual_49 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:30968594 uuid:3d149ed1-716c-4188-a2d4-badddbb25c9f phenopacket.store:CYP21A2.PMID_30968594_individual_49 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:b7085555-a3bd-4314-8b05-6ae74b99e608 phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0010788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b2e062c8-565a-4e74-9acd-82764554d591 phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:404f7cc8-2d3f-4a3b-a6c3-b20be9c76829 phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:e741b91d-5db8-41fc-82d6-933c2f360415 phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:867cd067-44aa-4126-8ecb-a47bb8fa3b4b phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:f0873122-e69d-4739-b1ca-1675ceb9482e phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:8388725c-b2e0-40e6-8588-0f9aabd62e3f phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:383b8c51-2362-4242-b455-4637050369fa phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:30968594 uuid:a47e1bf2-4d2c-4cc3-8bcb-0a9764ce4647 phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:746b483c-9a12-4bc0-85ad-39b1a79e1989 phenopacket.store:CYP21A2.PMID_30968594_individual_66 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3468677f-3e7e-49c1-9d69-e2c559ac4ce2 phenopacket.store:CYP21A2.PMID_30968594_individual_66 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:0eb9cdae-c682-440d-9e96-1b33d1bc58e4 phenopacket.store:CYP21A2.PMID_30968594_individual_66 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:f1af81b9-c493-407d-b3c1-ccac1a1b3cb8 phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ff174a9c-2977-4b4a-b609-28a8585b07ad phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:fd9017c9-4b53-49f2-a9b0-2b3ec5ae3fae phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:b2546a38-f039-4274-b723-d69bab41e02b phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:21a7bf8c-a436-46c1-898d-02461082981e phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a0b8f4c8-abd9-46f0-b81d-c34b0a9d06a8 phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:cee9e8e8-a241-4126-9a67-287e820c0ddb phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:e0f9e27f-dd75-4a2d-8ddb-79acb61ef517 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4a002c98-4786-4ef3-ae26-26470897445b phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4e202ca9-05e8-4094-8b9b-874de8915ea1 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:563a32ec-a09d-4885-97c7-29dfe43dbd87 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:450746e2-1ec3-492d-8e36-61a2bde65567 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:48b2023f-1bf4-456a-bfca-21158089f935 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:6d41af23-615b-4d33-996e-5a8630733def phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:dc612b88-c598-4055-bf62-5a3c75e9b9c6 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:72b7b36f-5b92-4e8f-b196-4f133a9c4320 phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:d5600598-041f-47df-a10f-157dd3949af2 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:e8ec2645-125e-44f2-bb01-fd431930c5b4 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:16a7dea2-04e5-42b2-ac31-1e86e56d2490 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:870adf72-688e-462c-8c94-458c58dd1c45 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:1d8162be-e9c5-4427-999a-918df0d30428 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:63706000-6c2a-4614-ac65-4fc4a63eaff8 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:da720c55-013b-4485-a2e3-bede875e4c21 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:bc09f3e2-c934-4018-a168-6fbcfa0aa393 phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:8ff0aa23-8a77-4c5a-9626-c3a589ee70af phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:db6b3495-340e-4138-9a40-87586876de4f phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:6c617e1c-66e2-4612-a35f-01c3493f8b91 phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d6ff8e5f-3d05-4858-888a-920d48b26613 phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:506c5c9d-26ec-4b65-a3b3-66257482ff3f phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:73817e0f-c19b-4519-be8e-f0ce70bf4096 phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:81d40ba4-ee99-4b68-8df8-8e353f6dc7b1 phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:c007f660-1b0e-4373-9514-2c3177afc048 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:dd0553bd-64d5-4a06-a75a-b881906e93c2 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7f27b403-9a2a-4fef-8292-3a65ea9522c4 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:82426c7a-dbb0-4962-9778-c96c7db15bee phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:aac9e646-f53c-4064-8669-be35930b3e51 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:f6afb342-601e-4eeb-9a04-ff389c6e7929 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:caf53c15-1136-4ce4-9b4d-4f0c04b5a0f4 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:332380db-aae9-47d1-8160-e68c7ca626e5 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ae7361b1-ea78-4428-b797-f404699288a7 phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:3014035e-521d-4dc0-ad6a-21c10fb2f976 phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:a8ce409a-79e6-4332-924f-9db6283e0165 phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a2fdc8ca-84d4-4d6b-93a9-012daf81d1ca phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:2a74612f-c6af-46eb-a407-316dd43ae0bd phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7741419d-6698-4823-999b-b0ed1cb742cc phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:fba70b33-d0a2-44c6-a0b7-8a37648f6d12 phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:ffa7f771-d421-4218-8af2-b72244eb718c phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:5dae16e5-9eb0-40ac-b3e9-ecfc9e319b09 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1d9eedbd-90a5-4093-9833-e79ed3e54a77 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:96921c45-d459-4748-9b3e-abc699c06886 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1fdaf630-31e2-40e7-bdd2-062cb30243ed phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:92286d33-baae-47c7-8749-6cb20723d5b7 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:88882f9b-1b0d-4a94-b11e-c5adec0c7311 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:800d1c91-d8c0-492a-be47-df340aba589d phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7e8b1e02-ae4f-488c-b91d-58f7bb5b36d5 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:efdaaa77-7571-4fe2-a60b-83fe76fcafd7 phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:30968594 uuid:d130c5a7-90b3-4aac-a4d7-0c57cfe2275f phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:9a1883e5-e2bb-484a-a3c8-68c6d306c5c8 phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ea781225-33ba-48b2-9524-afc01b690535 phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4d507185-759b-4733-a864-b351a2e696b0 phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0000858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:35a2af3e-d8aa-48bb-871f-5888af5a86fa phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a8341374-a346-4992-92f8-7187ad559cec phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c9287bea-71d1-4edd-aef7-b2e0a87dd2ac phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:e45d0488-4506-4dc5-a51c-4760e30e2984 phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:56acbe6d-1096-4c0c-9996-cc39f9bab63a phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c5bcb829-6c42-4467-9c61-7c6badf9946b phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:30968594 uuid:7cde2775-63da-4f59-8f3f-5166125ce834 phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:02ee5aee-f683-4e7a-a22a-215e4bff842b phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6043bf1b-9472-4f8a-8a2f-b9fa641225c6 phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:aa08f994-5a49-4be1-a21e-e76738084fc4 phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3002738f-8a4f-4eff-8b23-ab1493ca8fd5 phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3856807f-2d71-4ebf-bcbc-e98fd8234ecf phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ef3dc539-6cb2-49cb-83b2-d9824918dc8a phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:fdb4238f-e97a-48c9-b3ee-62a233b29fe1 phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:75eb2bcf-b333-4d96-9b79-5d07bdd2da5a phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:20da064a-b7e7-4508-bcdb-452d62e6bacf phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6444ea1b-3f32-4bff-9f65-4ef758a02336 phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:277e115f-b47b-4ad1-8e18-87210bd93feb phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:41b8daaf-3ab5-4af6-ab83-0452b9f649b9 phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:08cbc9a9-0b33-489d-ae72-2d3eadf332b6 phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:9ee5dda9-3b13-4a3c-8bdb-0a0970c70b23 phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:30968594 uuid:0f646295-1c79-411b-8b35-689f42593610 phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ee0ee2df-d6e5-4ef9-9320-b806c28777c5 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9210f2b3-ab50-4de7-a212-8c80be39cce1 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:cb1f4d05-8820-4275-9a4a-582a439ff910 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f4058570-dc40-44da-a693-401363bd6f6f phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:9a218591-330c-46ef-a00c-8ce822328e85 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d8f30a92-1d8f-487b-8f89-2ab5ac305574 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:26ad5881-d5ef-4be2-891f-2a8bb8a63233 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ebb6cdf4-d521-4b97-a3ab-a8626cb0fd73 phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:4f1782ae-c9ef-4cea-9668-7f9340062a4d phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:e963f1cc-219d-4cc7-9a8a-e0c9d4356d22 phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3b9d28e3-35a0-4cf7-ab65-dcf801d6fd92 phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:33c818d8-82f0-468f-a334-f81a73217397 phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:605c8932-eb1e-4f57-94d6-51461b36bfcd phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:050f409b-8e5b-4099-82ff-e04f0082b936 phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:eb34ea42-737b-4f96-bdf9-462cae8922e7 phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:793e4ae7-cb14-42fc-a7bb-1b9727a1bfd4 phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:13108d24-cfe1-4196-8a83-ccdf1b8dca32 phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:91b63c38-1c75-4b6d-80b8-c9197dce2a73 phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:fdebe7a2-a4de-43f2-b9d8-1d2250e70c71 phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:cdb7ee9a-f0dd-48be-9c5b-e90f1f4ba7a6 phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c279445b-606f-4b8a-bbd3-dbd4d171a80d phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:c92a032b-341a-43ee-8ca9-2e6bdd07c181 phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P20D infores:phenopacket-store PMID:30968594 uuid:4bd53eb0-9895-4830-8eab-0254cb9a6558 phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:9fd4b166-4899-4f4c-bd59-d12011e0d72c phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:43415b5b-f67c-4eb5-8ed5-d80ff88d272d phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3ded4d20-917c-469c-a1d5-9d0653434b6e phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:42c92092-d07e-49aa-9508-e4488eaadc8b phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:792bc418-48ec-4413-9d02-db636f21db46 phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7d65c4a5-2e11-45e6-a9e9-4f0a2e6a9647 phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:165d1204-cdc3-4446-bb23-86b8c21f105f phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9474f7a9-de9f-4597-871e-8484cfcce832 phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:10a44b94-5081-4c62-9628-1ffd14e6868c phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:6cf3dc5b-ec81-46b5-a132-141817ee5983 phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:847c27d9-7ed5-4a2f-844e-a7244d856a18 phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c1c4c405-6563-4b73-8f49-f374fa6a62ac phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:f61ab6cd-b015-4a03-a5b1-57177f1ae25f phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:643b2c4a-1d45-4032-ad91-4de9f0c7f220 phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:7d858d35-b4f8-49e6-8825-737e1605e429 phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:2e99269e-2d9c-4765-bf2d-963e0b1cc3bb phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ae492919-fa01-470b-9f61-7abf3a9442de phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:8903f8a2-9ca8-421e-ba73-35f493f0d3bb phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:0c5106d0-8af2-49df-9329-7b94edb028ca phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:e629da42-0ae1-40f2-9c84-6a337a55af60 phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:aefd4fb5-4b61-4450-aff4-423ea268907c phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:446028ae-e327-4516-af38-da7d64cad598 phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:831427ba-0c86-4097-9dc6-3f3b901a328a phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:22c9767d-11a8-416e-b76f-4d32da146f48 phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d477bb81-ce36-4e02-aa65-c4d74fcbf5db phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7bec73d3-f32c-4c3d-883e-958bc8fb200d phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:66c6f91e-7f3b-45d9-8ec7-eff471d65731 phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:dafccb15-98dd-490a-92b6-65036e851f8a phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b70c4ba4-93b3-47e3-934b-8ccabe2db809 phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:458435be-a38d-4599-a91e-a363e41d6ebe phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:c8511670-97cc-461c-a89b-5a382a820f1c phenopacket.store:CYP21A2.PMID_30968594_individual_51 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:b8e2bf02-fa00-4c7d-b04b-dc8adb58ace8 phenopacket.store:CYP21A2.PMID_30968594_individual_51 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:dc8feee0-3aa8-409a-9ac5-059b5bad35ea phenopacket.store:CYP21A2.PMID_30968594_individual_51 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P27Y infores:phenopacket-store PMID:30968594 uuid:3650b42e-5967-490d-a7cd-cd481e6cfdaa phenopacket.store:CYP21A2.PMID_30968594_individual_51 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:0f3dec7e-dab7-4066-a767-622800df048b phenopacket.store:CYP21A2.PMID_30968594_individual_15 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3d8dda5f-7446-4340-a992-b67b7974708a phenopacket.store:CYP21A2.PMID_30968594_individual_15 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:30968594 uuid:b53bca85-8412-4f2c-9908-6166b1cefcfe phenopacket.store:CYP21A2.PMID_30968594_individual_15 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:941d8762-04e0-47b1-b324-9eced88dd833 phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:697ee564-419a-4f19-b119-c623a1794217 phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:5296fb40-5413-43b2-8955-aa4cdecc5953 phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:281bedd0-708f-4e03-83c5-d2d04382c944 phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6439dbc1-cbf4-4780-b3d5-6fa93acd05ab phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:5881b0b3-5c2b-41bc-b88e-d6b9e3129ae4 phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_phenotype HP:0025134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3e4e789c-991f-4f54-a10e-f56d13628bf7 phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P18D infores:phenopacket-store PMID:30968594 uuid:5043cc48-deca-4942-96d8-c1303579555c phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:652157b9-43e2-4b72-b393-0d87c0ea8f59 phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:bcdac720-4d79-46f6-913c-1c121fefc041 phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:fd7c12f4-8dab-48d7-843a-ca07fa87881d phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9bcf06eb-c8b6-4923-9d1b-73d778192533 phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:720d4579-f6d0-4e48-a786-f7e356340aab phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:038531a8-fba4-4aab-975d-6ec623841e6e phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f2870924-602a-41bc-93e6-ab81b508a4f6 phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:23a7a97b-a09d-46bc-adb6-12365ca253bb phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:8df755eb-1658-43bb-a9b2-d4b1a94ae532 phenopacket.store:CYP21A2.PMID_30968594_individual_24 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:00fb8a8e-5135-46f4-bb9e-7f6dd45ecc3c phenopacket.store:CYP21A2.PMID_30968594_individual_24 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:6c474688-2d62-4002-9edd-0844d70b0693 phenopacket.store:CYP21A2.PMID_30968594_individual_24 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:d92b835a-0073-4fd2-8b92-1e92ee11637b phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:015bf8d9-ae8a-4e20-a005-a0620a8ad89c phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:12deb781-c434-44bc-b40d-c69b72d8658d phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:b243af76-8d7d-4c38-89ee-03050ce9233b phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7555d891-05ab-4c3d-acff-c843a96bddda phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ac0daea3-94c9-4899-9ad4-faedcd83084c phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:06181e63-4a40-4ace-b710-393979f8af1b phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:3e5a02bd-e6d8-459f-b8ed-38c64e2ff705 phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:d8743df9-4c9a-4e2a-b7b1-647e9a0559f3 phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:cb8dff78-57d3-4dbe-ba94-e5fff770336c phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a4fa4ee2-7312-4e7a-a73a-def7d634e195 phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:13436bfa-fea0-4d62-9592-e970e3d3fa8f phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:0392e7bd-9ade-48ac-bd22-d4f169293281 phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:a9d87d29-2723-46c7-bcb8-2b446e3d4ee7 phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:92e4b3b5-3afa-4ca5-9e9c-7082b82e56dc phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:18bb0bef-db4a-4009-b612-b9238a47aafb phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:005f9420-96fd-4d03-a430-53423c4d8624 phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2497fa69-898d-4557-bad6-c82538441b2e phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:39a6be87-71f6-4c72-ad32-4edd28f1bed6 phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b23a130b-c2e1-417b-a743-b7532b14a3fd phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:8c918689-f7a4-4970-b8ea-474141e817fa phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:81cfd521-1dbc-4e90-80b7-babd778ee69b phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ec23a8a2-a7e6-4945-94b0-1f73ec220f89 phenopacket.store:CYP21A2.PMID_30968594_individual_35 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f7825466-6c37-4a6e-b737-26a6e48ed486 phenopacket.store:CYP21A2.PMID_30968594_individual_35 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ca7fa8b1-4292-41fa-849b-eac013e8fb8f phenopacket.store:CYP21A2.PMID_30968594_individual_35 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M14D infores:phenopacket-store PMID:30968594 uuid:d2cb333a-6e6d-45cb-a382-84ab2c7afc86 phenopacket.store:CYP21A2.PMID_30968594_individual_35 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:75932fcb-ab73-4f44-a3b9-24f63f4f717b phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0d755473-2a3f-4fe7-b663-8fe3317df9a4 phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:68c47fcc-d69f-4225-964b-037f5baae65c phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:665bb022-cee0-4c63-b47f-f05efadde2ae phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:7a1333c2-5595-4de7-9df8-db29e0f58dfd phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:4e771e51-ae11-4ce1-94e3-dd9234b188a7 phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:eaf7fdc3-3224-434d-9678-aaa4ea8e2cd0 phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2648784a-6698-422d-8792-b08798b24b90 phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:fb28e16f-3620-4d73-aef5-3ab06ca718e0 phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1a08ad65-d84b-4ab6-a849-b3a3eef18cce phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:fe914492-e6cf-45d7-a32f-0bb16490b547 phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:30eb42fd-c42b-49f1-8a7c-58e40a9ad092 phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:6bca8a62-79b4-4643-8d1a-7cbbf4ede256 phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:f50e72af-5466-4e4c-a17d-bbf1646317ad phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:c494ecc3-f707-4939-9a79-d35da14d79e8 phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c46d5161-488d-4706-991f-47063cfa560a phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0500011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:bc9b97e1-4127-4d02-ae90-30dccd565b37 phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2e954520-ceec-41a3-b021-306d5ddaf08f phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a1607888-9078-43cc-b929-eba2e70accfd phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7c2b8906-81fb-465e-82b5-39f43c3127cb phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:80ddf032-cef4-4c42-82ce-fd8fd5d54b98 phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c5e0a53b-bbed-490f-9fea-5607a9fa74a0 phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:b8f6ad72-12b3-42bd-b23b-ecdfc93d8acc phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:98c2f382-8b40-4a34-a2da-8ca45dc97808 phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9f21cb53-a617-4b80-905f-2304a0dfb2fc phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9fa41adf-57a0-4268-a3f9-9a976403c14b phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:c37eb660-97d6-49c6-9e3b-2daf2bee41c6 phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:94d1532b-861f-4afd-b439-7cf05dc22857 phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:30968594 uuid:f8dedcfe-8c44-450a-b75d-28cbf12112a4 phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:85195c63-14ed-4e0f-8701-e355c6f27384 phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a4e82bdf-9086-4587-bd8a-ecf0b0f46f98 phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d2c26d82-84b6-4070-ba9f-323d96e16664 phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_phenotype HP:0002920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ae4a9b33-4da4-44b0-aa29-ffd62d1685f4 phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:540a4056-a1a7-4d31-8de9-aa13a9cd725c phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:a9970292-ee72-489b-afca-f475cb0d4a1d phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b4ea1824-07af-407e-b2ca-24be36f2b69d phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:b198467b-6096-46a3-a638-23f5330f6d9e phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:abaff1fe-f4db-48ed-9b15-b94eaed31c72 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3301eb1d-714b-471b-bebf-f0e2a6181f41 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9ec7ebc1-e9d3-4506-9624-9812445d81e2 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:8a4201f4-fd79-4a1b-946a-5586eaf24510 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0a6e8c76-2e73-4caa-897a-b1d2e7355488 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:33be262a-dbba-4b9d-82d6-e070c0a490c4 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:30ce12a2-73a4-4095-b069-ad4451d89e7d phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b8260460-6786-499f-a9f0-79914ab92f84 phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:1e488d3f-02ae-49b6-be6d-455a8e575e8a phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:394f616a-0a1c-4f28-a324-1214d67c27db phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0335505d-a889-4c99-8b69-2da7bb0bb895 phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:dcf0b1c5-3fab-4bbf-ac47-684dfdbaae5d phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:817c59d8-4a24-4476-9c45-dd848ac4bf92 phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:7d48b34e-434a-4a83-a5ed-fcdb9b92431f phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:9641b842-016f-4a6e-86c2-b52fe7daf1fe phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:481d2b6e-3026-4426-9a48-0c7ea85ae350 phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:a57ea8cb-9ab2-453d-8898-530ad02fd4c3 phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:336a0b5d-0378-408c-af6d-efae6c325279 phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:435ec387-17d9-48c2-8420-f67d388bb01a phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:0a777d5c-beff-4875-b6b8-c9b554bade04 phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ecbafb9f-c23f-4ee2-8f01-26e38da6c844 phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:9311ed5d-b619-4964-aa81-4fc1f25ef3bc phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:bc6716d6-4df4-4429-b061-67846337f301 phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d528ac11-adee-4812-97aa-9621e69e15ff phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:2865c9b0-b6c3-4360-9af4-48d35aa9e8ab phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:d4fc4253-c297-4425-bb34-c0f61ee57c64 phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:5adc7b17-cf61-4cc5-9b4f-861fef39b972 phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:e9bd38a1-ffcc-48ad-8f2d-1c3743b02059 phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:a6c306fb-59f4-47c9-be10-9d679d6d7b7a phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4cc2fcd9-0c9b-4942-89c7-305a7e42dad8 phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6cceb7c5-ac09-4daa-bdb1-8e11552f19fb phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:3dcab336-8af2-490d-91f7-0e0919872e00 phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:beaefb04-e885-4fe9-a65e-01d11d12dd96 phenopacket.store:CYP21A2.PMID_30968594_individual_37 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9dbef409-7abf-421a-bdf4-8942a149846d phenopacket.store:CYP21A2.PMID_30968594_individual_37 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:c6aea12c-5b19-46fc-9a96-a7ce684b26fb phenopacket.store:CYP21A2.PMID_30968594_individual_37 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:044c1282-a649-425b-9173-699e477c72bc phenopacket.store:CYP21A2.PMID_30968594_individual_37 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30968594 uuid:ad16936b-c4bd-449f-b0ab-49f60444712e phenopacket.store:CYP21A2.PMID_30968594_individual_37 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:8f0e18e8-9865-4939-8209-80b25f7548af phenopacket.store:CYP21A2.PMID_30968594_individual_38 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:8393c156-3149-45eb-bfb8-ea726acd9f6f phenopacket.store:CYP21A2.PMID_30968594_individual_38 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:30968594 uuid:5a17d805-ae6b-42fc-ba7d-4f1add62567b phenopacket.store:CYP21A2.PMID_30968594_individual_38 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:938db183-4d92-47a7-bad6-4ce4994d4f08 phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:52ae8baa-4846-4b8b-b01d-533dfeed29b6 phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0b82c7e7-9ca6-459f-9a66-002f2e21007f phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0ada9c3c-c7c0-4001-8bca-d8a83192ab45 phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:d64461b0-e836-4287-842c-dec00e623c78 phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:620da457-987a-407d-8c97-5fddd8b0f25b phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:86ecc916-c02b-4eb6-9762-46672f653866 phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M14D infores:phenopacket-store PMID:30968594 uuid:6042f329-75e3-42f5-9b8b-60537bb4c1ad phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:6fdf7994-1f24-4585-af3b-820139671db4 phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ade76149-7d44-4c1c-96e0-d540e85217ee phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:82c2b73c-0178-41f8-88dd-1cba410266f6 phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d91554ce-b50e-4d52-a653-1738fe624c6d phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2d257ac5-00b6-402b-a6ac-a1604d5fe451 phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:5bd879e2-28d5-4fd4-8fc7-a4a512429189 phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3f495739-fffe-4b6e-aa56-d04cddf3a810 phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:e4ed0937-3687-46a4-8572-51b5507c033d phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P20D infores:phenopacket-store PMID:30968594 uuid:0bd3fa7b-9034-4425-b7df-c2798f6e953c phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:7693d5b6-edc1-464b-843d-99587e970fd2 phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:has_phenotype HP:0000789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3457cd76-5ed6-49a0-be14-e3a5f4cee61a phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d3828fa7-f386-4496-b649-f5c31cee94bf phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:526cf2f4-0d59-4393-b909-1629c4eb528f phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:0788b08c-1cd9-43ec-b0bf-5807b96c64c4 phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P23Y infores:phenopacket-store PMID:30968594 uuid:97afe2bd-0060-4be4-ae07-48d956c94b03 phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:f5fe3607-6286-4961-91ba-a3140fa10e3f phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:019bdd1c-c83a-45be-885d-ab3eee2579b7 phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3e1f7181-c78e-44d5-8b8a-c66527623644 phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3949fd8a-c5c4-4ea7-8571-8649b6339061 phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6c72de18-fc73-4064-96f8-24c79d5cee73 phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:6389908f-a338-4423-85f5-7fffce61ccfe phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:27de5ed1-4dc3-45bb-955e-b2b48145954f phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:451f1285-74d6-43b6-bc48-fd742ba7626b phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:aafcbf40-3c83-49dd-96b8-edcd6224385d phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0001061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:1575d231-c90f-4656-a9c7-41bc3b982190 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:4b6f8a3e-2035-467b-a65d-f6fb1613a732 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:66ccde0f-14e0-4124-a36c-245faeecaac3 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0011043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:3b7f0762-587e-48fe-93ee-f21a77b2cf66 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:f85494d0-56c2-42ba-add8-e61437f530b4 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:ce8bf984-0a61-41bf-a205-bb057489d823 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:874c124b-4368-4627-b331-437a0fb71906 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:30968594 uuid:c8b8f639-23ef-46e6-89f9-5a20241b1c85 phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:5a39a7e2-e5d1-4805-838c-8adc664c544d phenopacket.store:CYP21A2.PMID_30968594_individual_52 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:197f76a2-4784-4f9c-9567-78ecb1adb119 phenopacket.store:CYP21A2.PMID_30968594_individual_52 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0f715374-076d-43c0-95e6-74787ee87269 phenopacket.store:CYP21A2.PMID_30968594_individual_52 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:30968594 uuid:7dd3eee4-4f63-4120-924b-1d6ad169cb51 phenopacket.store:CYP21A2.PMID_30968594_individual_52 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:ab2f9cd3-e86f-48db-bac8-f1cc6eaaeb05 phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:6b80e1b9-a847-4958-9766-31a5742e7ce3 phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_phenotype HP:0030088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2a41948d-0910-4d17-9812-5a0b060bf037 phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:f33dcea0-96e4-40e8-9c63-7a14c7256a8e phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_phenotype HP:0011731 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:63f82cac-8c70-4243-bfc3-9f3a59077582 phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:d8e23756-4097-42cc-b963-5ebce9f0e930 phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_phenotype HP:0025133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:5437008a-0c6d-4ccf-bb59-553fc189709b phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P10D infores:phenopacket-store PMID:30968594 uuid:8283f7d8-3d81-42c0-90b6-ec886421f494 phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:b458ac00-9a6a-43f1-bbf7-0102b81fafc2 phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:8b237cca-de0d-4312-afcc-c8f926e4afc4 phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30968594 uuid:b506d6bb-023e-4d55-ade2-f25b7e9b57f1 phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:3c222009-5e2b-4ac6-9844-154e5132d405 phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:62235c3e-7d50-46ce-a8a3-06906e86722c phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:9ec2dbd7-2e87-412f-9e8c-4ce99c49c926 phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:b2ac6162-1eb4-4bff-94f9-ef4ae50ca1cd phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30968594 uuid:6d21c39e-3429-495a-bb1c-e64ba5091ac8 phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:5b85de80-ee73-4a74-84d0-ae418039cd6f phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:0e42f0bb-2690-4257-b957-9af3f9a8dbd4 phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:29af7671-5770-4002-9ce0-d80adeaed350 phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_phenotype HP:0003154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:914e273a-c164-40f4-943d-ff4db655e004 phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:ca302f73-9edb-43a3-8f0a-3be81918129d phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:2421a8bb-d20e-4ddb-aadd-ed849f4be312 phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30968594 uuid:e0305704-82fd-459f-ac70-5e4ee2134273 phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_disease OMIM:201910 biolink:CaseToDiseaseAssociation manual_agent observation P17D infores:phenopacket-store PMID:30968594 uuid:539440d9-bce6-4ce4-80f8-4c13018274d8 phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:has_gene HGNC:2600 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30968594 uuid:b0deff70-8347-46a3-b471-a4db01f7902e phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:26734137 uuid:20376ebc-2926-4afa-8df0-11384de5cdf6 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:cb181778-17b1-435d-a06a-095286d1078e phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0002748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:863219ee-412a-4a9b-be77-f4d825bba7ad phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0000897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:6829cf98-7b86-4e89-a3c7-f0af8f144394 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:7d8e3b8d-053f-4d2f-a59e-82263325af0d phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:664b8ce0-53ff-4ea3-9be4-3a74e57d5f7b phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:4022ba60-9481-47b6-a19d-3d43b53b874b phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:c1fb9cc1-f5b1-4f7e-bea7-4f0db7f82f22 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0012052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:07a0dace-1e21-4c5f-a5b9-e7fe866a814e phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:1abe59ba-3eb7-48c0-a1de-f62a8329e1d5 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0002909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:7f17cdae-bd4e-4f68-bd27-ad286c3859e2 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:04f8baf1-8636-435a-a91b-062f04873424 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:2885d4ab-a05a-4850-9f1b-f0596dd52289 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0003127 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:68ac5202-fc6b-4f93-8681-538b547d212d phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:85146f82-df3f-4785-8c54-b200e8efec09 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:26734137 uuid:7f6c1073-5839-4fd9-8cc5-4eabd6ed3466 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0002653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:26734137 uuid:e3771452-dd94-426a-8c67-f61d2b04b2ef phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26734137 uuid:9af0028d-f640-4e1d-8eed-dd024e8e8c7c phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_phenotype HP:0011422 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26734137 uuid:7f62b3c8-8201-4920-ad4d-2480f6cb60fe phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_disease OMIM:264700 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:26734137 uuid:a26df4e2-73af-41f6-a5fe-7fdd226a2b44 phenopacket.store:CYP27B1.PMID_26734137_patient biolink:has_gene HGNC:2606 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26734137 uuid:78f1ea0f-8925-4649-a5d4-95b1eaea2849 phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:ea2f12b0-5a1b-4041-86bb-866e753a055c phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:1eb5f984-8c60-4a1e-8e0b-6f97e57dcb97 phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:22ff05bb-10ba-49c0-85c5-f81e3212dd45 phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:3f039641-5fae-4c27-94c2-462e92babcdc phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:26a29055-2b55-419d-90a9-dd607558c7ce phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:00770b97-5dfd-4835-875c-c7616f3bbfa2 phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:a3ce55cc-fbfd-4f42-82ac-bfba244390c0 phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0011553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:c0ff3f5f-0189-439e-a3bd-3715e952555e phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:71279d41-4a5b-4b5a-8341-6d9fc64fd8c0 phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:9b2c401b-713a-4f8d-b909-0662e91cfe6b phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:2858d8cb-c3d5-4a98-9ab9-60214f2c87cf phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_disease OMIM:620570 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:5e483988-5f82-448f-90fb-64c132eb7bbe phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:has_gene HGNC:26383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:b76e9096-54b6-4ac4-8f7e-55e4e1aa4fdd phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:afcb943c-7009-4bb9-ac9b-c0f6d98ffc29 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:fee12986-8187-4e3f-8b7a-b0cd44c6ebcb phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:1af29b4d-187e-4e57-9d50-0f78d90cbb4b phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:eddd4440-43ad-4a8e-8b5e-8ce59226b404 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:a1ff209a-012c-4c92-8fe1-d67ce041109e phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:f0acee43-ccb8-429e-aebb-963b49e816f1 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:50ea3cd1-c0bd-4043-a017-3b3baf79cc5f phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0011553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:5175a70e-e107-4208-af5f-8e57df70978b phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:fdf75f1f-b841-45de-9d03-8962207573c4 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:6307ff15-c6f1-4c5a-bd49-b252830edc7d phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:d947ad4d-0873-48cf-9677-55ac24934ebe phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:8eb4fed9-9ab2-4c3a-93d6-dda573f909fe phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:5500f562-9bc1-4b79-8907-d5893b37ba6b phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:9146b2c3-aab5-49a6-9b68-0c6ab86e3195 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:200e9692-88ff-4027-9221-f13b3887dc46 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0034315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:dc6c16cf-a20a-4a97-aec6-ed6a65f0dbcd phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:7818d1eb-688b-46cf-bf23-ab0534721df6 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_disease OMIM:620570 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:07c6cc23-1a5e-49b1-9372-3a3d49ee63c6 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:has_gene HGNC:26383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:ee6218a4-03c8-4e94-a39f-04acfba43ea8 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:7ddb795b-d9b0-4109-b8fd-7b921423fb97 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:5a959109-d248-4164-a0fd-5f9d78f3ae12 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:132a4138-01e4-4132-a866-c0c2851cf02c phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:3d309ec4-ecfc-4904-97bd-7737c78c8a18 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0011553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:cda80460-6eb3-4a7d-ab46-8ee79af5bcfc phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:a44a9651-eafb-4882-8226-6f802689ba21 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:a89ca8df-71ba-4abc-b181-f766883ca1cc phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:d8ee9ee8-1550-4e90-a14f-3107bd922c9d phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:9a43fcb2-ad4d-4f53-80d6-6f2361fbc727 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:5c04f620-e1a4-4b9a-867d-1ab640c3ae5c phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:5f1baa1f-e75e-47ca-ade0-8576f9bb49ee phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:ed2c3f82-9740-48d7-9778-068c19fa53c5 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:cdce2eb9-4947-4738-8005-e60184990e92 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:6a849da6-e420-45c6-82b8-b55988d94778 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:746f893d-997e-4011-b488-e323dd454155 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:957cd07f-f255-498a-9e0a-da65e54521b2 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_phenotype HP:0034315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:e97fc7f7-eb4d-4245-b414-46449c3e1a45 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_disease OMIM:620570 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:13c79a65-bdd7-478d-9ba1-2893c5f111e8 phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:has_gene HGNC:26383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:d1f295ed-8bc1-4a6c-a7ef-043b748aa09f phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:9e122423-26f3-4651-83ed-141dd3122fc3 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0011553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:f2ff014b-a203-475a-bf5a-e71ab71552de phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:2e1f0bda-f826-4454-b700-ce1445766225 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:4a7bee94-42df-4d42-84e3-c2f34e9fcc82 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:8148a1b1-e1d7-45ac-9be9-dcdfa7a7643e phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:239c2a79-4732-4de1-83be-068972012cc6 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:a1f9dac2-d838-4c35-bdee-2a0a9aaf0567 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:b412acca-6ad0-4a92-bdb1-5f7b430ae1b1 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:d52dea6f-c0ec-4adf-8b4b-2cd3fa14f269 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:d712428a-3f83-4c8b-91f7-c96ef8b34dc5 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:e101cc78-e9d6-4a65-9290-84f05890c304 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:8c059917-7a7c-462a-9dad-5575bffcb282 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:f430bb94-8b6d-463c-8b57-c41e989cf920 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:ec977715-0ff0-4d77-8f06-761458f12026 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:eca21584-5d22-45dc-826c-67caebf1b1e3 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_disease OMIM:620570 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:9ae7dd9c-fd33-4286-8758-b78d2c19fa30 phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:has_gene HGNC:26383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:ecda629d-7ded-4652-a6fd-4d1a24470f6f phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0034315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:ffe5680a-b3b0-44d6-9140-2ffda6b3f931 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:9a134d5e-c093-4293-ae26-11ee44403f20 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:f7089eac-7aa1-4b5b-9ea9-966b4fdf5488 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:bf352d4e-69f5-486b-83f5-bf0fdda3bd27 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:9f581758-c47d-43a4-9f00-239d50592400 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0011553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:179b497d-97d5-40e7-aa83-778b44df7e53 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:cee11c3c-39c4-4609-bd46-0e43818be005 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:434b7a47-86d9-4d65-bf5b-20da9fb93222 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:24580b82-b387-4326-a6b2-fddfb2357625 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:5a716160-4be0-4dd3-86a2-d5a2efbdf8a1 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:15ee821a-a9cb-4a5a-a635-1a61b0ae976e phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:675d9c2f-a723-40a8-b86c-9ce7e25b2da9 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:00437933-4a76-464b-93e6-940a4a9f19a1 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:a690269a-8e47-4273-8198-da5b4c8ca829 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:22294364-e3d3-419e-91de-d35853ba9fc0 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:ec3a9d36-3ebc-4988-a79f-fcb984a57f76 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:d6339879-1fd0-4441-a3a0-e68d3261f0c5 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_disease OMIM:620570 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:cb1a2a59-8f13-487a-9583-458eb8af7406 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:has_gene HGNC:26383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:1928f4f0-7598-4a7f-84fd-93e6e0bb27c4 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:146b39e2-ef29-4f95-996c-19d42e190b0e phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36074124 uuid:921023a3-5367-4731-aa42-cccecb17f9e5 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:08eafa1b-3b68-4e92-9b3b-3d1a9d9575b5 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:47b18694-2232-4fb2-baab-f9e703933c12 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0011553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:8b711925-f0a5-426f-98d0-02fa4bb415ca phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:43a054ac-3f35-4a0c-8421-928d556d0373 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:d99f7f40-f104-4881-bd31-45a857dfbfac phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:53142182-ddea-4fc5-9eef-a8adb6dea086 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:17dd3206-c950-4ebf-bc73-b003f86ea840 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:3a91354a-df01-4b0c-bca2-0bf1be121534 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:ae4b800c-425e-4376-bab9-3cab6977a69a phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:8593137c-d588-4420-a98d-97de489cddcb phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:2d0780c2-e939-49d4-bac2-3c26b7a03ae1 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:ae09da4e-e0e3-4f64-9bcd-aed075feeedd phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:342bf2e3-a15b-4cd9-9002-d964fb272ded phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:603bdde7-84f1-497a-bab9-e23340b00636 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_phenotype HP:0034315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36074124 uuid:87543bed-1a37-46fd-9c60-0fc373ed7d88 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_disease OMIM:620570 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:f4793727-8058-495a-8a8a-8255c2a68442 phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:has_gene HGNC:26383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36074124 uuid:e07ccb50-5c0e-4baa-a4e6-4ce69c6c2f86 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:f818b647-9825-499f-a7f4-cf855d93ae44 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:50658fc8-2b60-4b4e-91f8-0aa0023560e4 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:faf93897-64f5-4a9d-8118-1f65338be16c phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:483cbe93-b362-4d56-b0b4-2a2265acbb86 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:f692a632-980a-41b6-9d3a-ff80f447d0ac phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:a13ed19c-1b11-4d14-9d2f-c17742f47a6c phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:27eb0ad1-0d7e-44ef-9577-61e0ae18f924 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:fe569722-5bf6-499b-9821-9df54ea1aeda phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:c3508e20-f47f-4178-b26f-1bafbcb8ca4b phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:eed35544-a07d-442c-814e-46befda1488d phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:237aaf27-4a01-479d-b8e3-349cb985c5ee phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:f3c8e4f0-3d8d-4e57-9558-729e1fdcbfe3 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0500049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:9d1ba4c0-9530-4ab2-8b44-08280b2ebf2a phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0005281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:8a0bba3a-ddcf-43c4-8d0c-d9209ff220bf phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:27351c59-a1d2-4cd5-8565-18617c2cd51a phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:3b420d66-8123-49a3-ba60-d420ebc27861 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:fd24958c-9739-4ddd-a474-d01574c640c8 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:5b251c91-90d9-4e35-bd5f-d9e6066523af phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:65bc1d72-769e-4835-ba64-3a9d7fcdcc92 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:ef901229-5fa3-4b1e-b779-fbfc18cc5695 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0012382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:b8bf2733-c8e1-4ac8-89c0-5b1f1085e416 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:004ffac0-7c32-4173-9be7-449ebe8a25b8 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_phenotype HP:0010946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:4b4286c5-70d0-480c-a727-50fe93413935 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_disease OMIM:620510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:0cd55f8a-69f4-4bcb-a230-46ac92fcee31 phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:has_gene HGNC:15594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:b80e549f-045a-4edd-ac34-e39071a7808b phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:48c4f1d0-d4d4-4c64-80da-39d7f1568145 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:79775066-7935-47ea-af46-43b222e24849 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:bd910035-3dda-4f6f-a758-472fede26139 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:52308183-b30c-4a6a-ab8d-63cf2bd80e29 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:20f330b5-ae6c-4679-9b2f-a77607ea2b0d phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:618e23cc-7090-4137-84d3-793d26294078 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:e41da753-9cdc-4afb-ad2a-caa0c0c8cb15 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:37c014f6-1b28-40f0-b836-fe9c91f35ee7 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:b6609c1e-f3e3-4017-bdba-ea3494a7c8c9 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:b0949ab8-ada6-4cd3-99c4-481d77b12891 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:103cd641-3be0-4cac-9bfa-753e98e40c4d phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0500049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:1678e165-63b0-4a91-b8bd-cc568ee90f73 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:8417df53-57b2-488d-8f38-0c196fb4b6ba phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:517cbb73-c66f-44aa-899f-fcfa28f39485 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0005281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:169f0722-df1b-4f26-acb3-34ec44348aac phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:ee36a786-5f45-4f36-ba25-88cfc64d37a0 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:9e2e4abc-914c-484d-aff3-fa97e2b2e7cb phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:96019c4f-d7a3-4313-89ef-912cef5a9eae phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:ad2835b7-be2d-4236-a492-e61e721a8200 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:5034f6b6-b499-45a2-8c1c-3dd30e717810 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0012382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:cb76f5c9-59c7-4c0f-8bdb-c67887d08a21 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:b86fe794-73fa-4de5-b584-d9641b2c8220 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:126a0e33-8138-4d88-87c1-3d5569a33bbc phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_phenotype HP:0010946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:529e4e24-897e-4f11-abe8-62362234986f phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_disease OMIM:620510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:c573c6e9-fde3-467c-9f7d-9c7d9a8cfe76 phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:has_gene HGNC:15594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:03619bf8-b63a-4f03-9c1b-3f78963bdfba phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:18d39f0f-c363-4e59-86f2-aca52ae10f7c phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:5e9a6229-067a-465a-88b0-1cb0f05a113e phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:623093a8-7099-4a74-a2b0-dee9428bcb8c phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0010783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:3d78b69a-a8ab-4209-96db-641a0eb83f4b phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:c6bd542a-6acc-4a67-8247-049e21871511 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0500049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:bec2ddfe-f21a-4e21-a716-b5aeafe38503 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:04b11b54-bc7d-46ac-b555-28fb20713433 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:3c070fc4-9a5b-4146-be23-f128ca57cf4f phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:defab6e3-33a2-480a-a896-7d0d6745fda5 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:1c48bf14-42ff-44b1-b7f7-e04da4a6c105 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:e175dc61-c2cc-4608-9c9d-562125c5fa20 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:f723f998-47b0-48dc-b089-5500810bdb8a phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:6e8a82b5-ca59-4012-b153-d06a101bdf05 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:c6b0b7ad-4f59-460e-9d3c-bcdc43629282 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:71003dd7-7bd5-4964-ac4c-a1d6bf49f35e phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:b65f80f8-7c4b-4c9d-a31d-6b6b996b593e phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0005281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:352dad63-da31-467b-bdd8-bb38dc24d860 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:13174347-1bd5-4187-a482-36d088a843e6 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:b55be785-e756-4fab-af76-65376cfb738b phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:64e9675e-fa2c-44aa-8284-f59a65392f73 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0012382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:1a4c2237-b7a2-4d7b-804f-60ef7d1f5951 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:254a6001-58c0-4d07-ac63-21c67439719f phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_phenotype HP:0010946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:29edaf62-4efe-4e01-b355-039903985047 phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_disease OMIM:620510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:2571f8f8-16d3-4970-a4be-024e2db031ef phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:has_gene HGNC:15594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:0b5ba3ad-7827-47dc-b05d-0e98cf12bbb6 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:486c40e2-fb74-4304-acac-c02343fa3870 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:73f7b30b-7d0b-45f1-9a96-c333f0efe3c2 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0025664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:5f8ccc9a-76bf-49d6-abd5-77f35cdd7d0b phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:3e8f6643-4203-463c-b21d-ac9ea533a62a phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:7bd51b69-145b-428d-ab2f-8bad5ec4729a phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:037e7f9b-ede5-4bf8-b80e-f73e57d26b0f phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:a424657b-a1e0-4fe3-8e99-7cd4fcdf9c9d phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0500049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:5c0a32ca-0aa0-4035-ab9d-77837d3be5fe phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:2c2407b3-1a6e-47c4-8e59-91e5c7d1ea3a phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0005281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:5911545e-6d08-4433-8724-bfcf1bdfc841 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:e34c70be-7b53-4cb2-8800-e23d0295f9bc phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0012382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:c67f635c-694d-47a6-8ad3-10cc1af1cfad phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:bd2e209a-0f05-4538-8173-2c2095646fa5 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0010946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37656279 uuid:49e8116a-3447-4571-989e-48df14413905 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:fedb8414-0ed1-4d45-aa84-f644e2515ef5 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:bd8ab03e-78ff-4460-9e62-4e8d75018fed phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:a6bd6001-bcd8-489f-a2e8-a88898a038ad phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:a9bfa6df-bac3-4d00-9a7d-d51fcdca3444 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:d58ec3f9-8db6-4706-aac7-6f96f0a306a0 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:af29f89f-4c1d-47c0-b598-9b77ee1bb5a5 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:e18df618-eae2-4cf8-b213-740c6c931f29 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:07633e8e-eb49-49cd-9557-6a75c6e5a0e0 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:50086602-5540-4e75-9ea6-a3b5fa534143 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:60c9e555-b8ee-4304-a697-14a11d396265 phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37656279 uuid:0d896933-6ffe-4d39-9ecf-ad70762f49de phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_disease OMIM:620510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:ad660573-a6cd-4305-87fb-f4de5d92511a phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:has_gene HGNC:15594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37656279 uuid:68ad6c2a-d537-4a41-8727-472f2b36ca89 phenopacket.store:DBT.PMID_9621512_Patient_KM03 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9621512 uuid:0e18b75c-8e6e-4fc2-b809-c59fb1dd7d0d phenopacket.store:DBT.PMID_9621512_Patient_KM03 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9621512 uuid:e52f2231-c96f-48b8-8758-07b9ca24f81d phenopacket.store:DBT.PMID_9621512_Patient_KM03 biolink:has_disease OMIM:620699 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9621512 uuid:bd1a1cc8-0784-40cf-a22d-ee70568373fe phenopacket.store:DBT.PMID_9621512_Patient_KM03 biolink:has_gene HGNC:2698 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9621512 uuid:641a44a2-b080-4846-831a-a6dd58ac29ff phenopacket.store:DBT.PMID_9621512_Patient_KM05 biolink:has_phenotype HP:0001993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:9621512 uuid:01bc749d-fe99-414b-8a7e-7fc0dc9ec6cb phenopacket.store:DBT.PMID_9621512_Patient_KM05 biolink:has_disease OMIM:620699 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:9621512 uuid:64bc29eb-7780-4516-826a-182d3b2f01e8 phenopacket.store:DBT.PMID_9621512_Patient_KM05 biolink:has_gene HGNC:2698 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9621512 uuid:bf1ffc09-1356-459a-95f7-2f998d434c03 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:23c770b2-408e-40a4-8e6f-d11fc3fc795b phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:bca8ec1f-4350-4afe-b929-1d16afbd4525 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:6691e441-4545-4e19-b7ed-de8175652f68 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:5a314771-c67f-4cd2-a123-47975df23797 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:f6cf93c6-6526-49af-8565-2afde08f58dd phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:9c9b5075-4450-4481-9c88-c79721528193 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:104a104d-a3b0-4b9f-bee7-e3bcf1a453d1 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:e9b58a73-d489-4c5c-a784-26912d819cc9 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:5c13539a-6cd3-4c14-ad46-955a3e49658b phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0002251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:2a2965de-3e41-4d38-a9a3-1336e78c1539 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:74333f52-7f06-426d-bd4a-ec57948df7c9 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:c3eae11f-f1e6-4e30-b47a-d67a6bb29d20 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:44a9ba96-56c1-42fb-bf99-3435733a2740 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:87607869-91d2-4f3e-b9c8-13f7e2a9a048 phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:32af2c6e-2c71-431d-be36-40194eaaa02e phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:c3cfa64e-66ce-422f-b8bb-892fdd395fc4 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:0771dc94-a408-403c-b5d3-a6945ec226e7 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:e83e76e2-bb54-4823-8817-8c1adab963fa phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:97973881-6778-4778-be5f-9dfe93f81ad6 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:0f218798-2fe1-40e4-a981-be1224839a6e phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:931897af-ca66-46dd-992e-9ad5aa66de67 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:d3d48e4a-dbaf-4cb5-8f9b-bb015fdb1a88 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:eb1c4224-3336-4a45-ae47-2f477e8e0d7c phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:f5f58156-d0fe-43a2-9415-70ac5c01da46 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0002251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:e5f1a757-2a9a-4869-8218-76adb8c11386 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:f14c1db9-0463-4ebc-b385-6cf62abf8541 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:0e893342-30cb-4981-9461-b85bd8067da8 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:5b45c2f4-9ba6-4b14-82dd-f3b32fc84e4f phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:e7966058-3abe-433f-963f-8966b7facd28 phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:113b06d2-ebb4-4fef-8fcc-1cefb0f71f45 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:d2fe1bbb-9229-4b4e-8de6-d2e7ce3155d9 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0012725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:94a67199-24f4-4151-aafb-1f2f78a0ac91 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:32cd8931-465f-4758-953b-010803be2526 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:3d00a2e5-758c-44c8-bae0-76ecf06e5057 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:7086fe50-9203-459f-bb12-0ed7fcd7a686 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:b5fc650a-a536-4df7-8ba6-56f18c996df2 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:9609e733-0989-4ab9-b636-2e3729a35eca phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:4af54d47-b1b2-42df-bbc2-28ac18cf254c phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:98dc6d11-3ae0-44db-a442-80e0fe9828e3 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:3343be1a-8f71-49ef-9034-6ab870f76763 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:e6e9ceea-95f9-4ca0-bda1-36b852758da7 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0007236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:140fa724-e8dc-4524-bb52-1bfbe97b78ff phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29127725 uuid:a457c947-945f-4b7f-a275-1f72ea6d3d55 phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29127725 uuid:5ac92401-fa04-4d3f-a5cf-a6e3e59ddd3b phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29127725 uuid:90555971-235d-45fb-8c51-f08df994ab11 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:ca4f0db3-5322-4be2-ad01-9b63cf519dcc phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:959f01df-cc0b-4f67-8437-7df55f9f4492 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:ff0b0841-7d24-4c17-ad2e-703a6b29ed3b phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:f2d56e8d-2491-4433-ac42-6606fd21cc56 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:fb9b9973-398f-4786-9e0b-b41745a88cc3 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0002251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:408293be-c141-4067-b875-f7862243609b phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:45f04798-9950-480a-a162-b2e3a12f1c86 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:20cd9b0e-10e2-41c9-b3c8-c8e1b970d592 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:0e376c92-f844-4f20-868d-69ccb9aef6a9 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:1c2cb4af-7b03-4b97-b49c-c9f56d1c0495 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:109999eb-46d2-4f40-8eca-8c0fcd75ebd5 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:b2f218e0-26ca-44d0-a7d4-69fb021bf3ac phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:d51aa569-b861-4817-bf45-138bcc9bda4f phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:816deb49-c235-47bf-8053-ab0b5fa5a1a9 phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:45b26c5c-7cdc-49fa-9f1a-b31747a18cb7 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:993eae92-1952-4e98-a177-67bee9ff1cdb phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:4b0e4254-952b-4f5b-ad67-c6b3b85c9a34 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:eb717b0e-521b-4865-8099-74253da18a57 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:4b711049-ca26-4fb5-a786-6c9c32c61a1a phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:7d62887e-71c0-4062-acec-7062952d4f8e phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:686e0f55-9a37-4915-a8f7-6b7930465615 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:85e43e5e-c3ce-44e9-a63d-6bf9c8c22dd0 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:0375e180-7161-4aa2-912d-6c3f830a15e0 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:06c33984-99ab-4b62-96bf-b091822b63b6 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:7395c176-1a74-4219-8fd8-600c728e6919 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:63da46ff-980e-4119-9aa2-d1ca53cc73ec phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0002251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:aaf79ccb-1f8a-4e0a-9a09-b84f650656ba phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:b1762b5a-4ebe-471a-9078-88a47392adbd phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:44d076a4-7572-43b6-9f9c-d3a7a089f3d4 phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:723369b1-ecde-480d-9854-42914c49cefe phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:fc033157-5c48-446e-b880-caf73ef58351 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:8d53173d-6070-4903-be59-25da694e013a phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:49b3bf1c-b0a7-47fa-a0dd-ad3c2f364674 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:b17ce1d0-83e3-4c05-8cd1-7047ac2c7241 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:186189d5-59a0-438f-b290-c0118aecad4e phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:fc9379ea-1cea-4773-bca2-26b483fed346 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:b3ec2f2c-4735-485b-b8d0-3a3b4e0d5970 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:011eb3db-b111-40e7-b862-c355a52e9d84 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:ec52caf7-0e33-4c64-952d-b3e5e1035f3a phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:b0f52d3c-354a-4dfa-8bb5-8681d18f3e75 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0002251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:ac14d2dd-6577-4def-8143-edaf80103081 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:1ee490d0-4d35-42c2-8b18-91a7a0a81d3a phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:cff44a72-6145-4059-9b0f-e71b7dca47b9 phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:09c7a4de-fcfc-4b59-8dda-f8b9f121f59e phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:857a0aa6-954a-493e-9bad-c04e2364222b phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:012ebaa3-f607-4f82-a4eb-b196eaa0064d phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:0b97ebfc-57ae-4d62-aa31-90edcfef0f91 phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:90215ae9-6042-4780-ab07-b61c92a5b832 phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:36a99389-153a-4bff-aec4-64d215a4218e phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:859cbb49-c5cb-4345-9a40-a236accc8db6 phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:09f77847-811f-4dcb-b473-7b6c1ebb8a2c phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29127725 uuid:bdff4615-95ee-4e61-aed3-e65855ec4106 phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29127725 uuid:9cea30a5-0c82-48fd-ade8-f2fe76ecf96e phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29127725 uuid:bd6dbc68-1c25-44ec-b29c-7248caa207d9 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:5944d533-1d87-4267-9674-7c6fa615c1bd phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:debe74a8-e232-4aa5-9323-cbc14bbb5441 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:a02ead45-77fa-469a-a5f7-894aeff58ce5 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:0f0574f2-84ba-4cce-aba4-3a2d7da31487 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:f56bf504-716a-47c4-a7b3-9e439ee5cac9 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23972372 uuid:8a6a7609-2be3-43e3-af4b-6287f84ee521 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:f3b6806c-72b2-4ea3-9da9-c888f16e1869 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:c3e8a7f9-69c1-41cd-b14e-c7487665ee12 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:bb864517-9778-41a3-87a7-b40603fba886 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0002251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:1173a38d-4fbe-4b2a-9b12-077abccf07e1 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:9810052a-f53c-4f97-95ab-aa75479f36b1 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:39eb73ff-cc8c-4537-9de4-38dabf50a54d phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23972372 uuid:fffe72da-eadb-4cb7-969d-feda3bc29d4f phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_disease OMIM:174300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:81d51286-3f07-49f7-be1f-86adec2ba021 phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:has_gene HGNC:25360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23972372 uuid:d26a8026-fbb3-4c92-b8e4-fd7b01e78762 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:09b2af83-2b63-4236-8d6e-d8589353d9d6 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:48e6ea62-36fe-45c5-a20c-956cf0254470 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:f170bcd1-a0fe-4daa-89c0-e7d86692f733 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:25f48558-2b63-4cbd-98b5-b79d813d4ba4 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:4a0b7a1f-d370-42b4-9d00-be2e82d45632 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:4c8a80c5-e228-40c4-bae3-9252f1c70e4a phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:f8f3ba2e-e339-4ae7-9649-9e7225ad6001 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:91b38489-dca8-42c1-8df1-93cbb70e7ca1 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:3c765312-be00-487b-8bef-a4bace861a7b phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:62beb481-ac5c-4fae-a7aa-f1e077caf64b phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:87903c3e-c643-4d4e-8629-002e21f255ac phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:3ed63d15-8961-421c-a841-cc702faffd28 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:3ecb4956-fc5d-46f2-b28e-4a737c21bbf5 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:c9384e17-b425-429c-afa0-80f99d51dd95 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:dcfcfa34-33d2-48c5-b903-bc045446f6c2 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:6ece892e-8f29-42fe-831c-9af909ef5ee2 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:a0e46bf1-3382-4525-b500-c64d5c2ee11b phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:a559a9de-6e28-46dd-b007-1e3814cd5008 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:2f5c3b00-38c4-408f-a709-561d183289cd phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:df716529-05c5-4c8b-8bec-060f64461562 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:cefda499-c527-4b3c-8873-df614858acb3 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:82228d3f-b8ed-4f45-b281-b79b1a87669d phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:91acd8a0-08c9-45ad-a023-ea7c69c79944 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:324a73cd-7bcc-4709-a6c9-56cf539bf1ca phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:fea10ebb-dd1c-4180-b874-78a3bc9a7594 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:975a9e36-4627-4de1-8517-1fd466552b1a phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:9bfb97f0-cedb-4fd5-9d05-f09fd0f25a06 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:b1397c6d-fd2e-4c67-a660-f73488d4ed1b phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:ffd7c7e7-e023-4d03-a9ef-f6169c2e0195 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0011703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:e238dd7e-e7a1-492d-b35d-e38a7e84c1ec phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:08033919-3bfe-4ca0-b1de-fb85e3f3c097 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:dfa63ff7-28d1-4bdf-9864-a2805e5cacb5 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:fa28e918-277c-42a1-b7d0-3167a6eba96c phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:4e895a6c-15c2-46cc-a7fc-701b40829d6c phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:3edd2e11-e91d-4bfb-9091-e0996b782819 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:6e0e2849-f1af-4140-ac85-eb255cfe63df phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:2e8811f2-98fa-48df-ad60-747d8e6da763 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:b6fd0875-38ae-46a7-ac1c-6b1e622534d2 phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:703e196a-6beb-40d4-9480-75057d4b8c0f phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:8cb72af3-eb0e-49a8-a282-7d5da58ba484 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:3827bc2f-f61b-471a-8c22-e1158e77bdfc phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:abbb17d1-2f90-41bb-a137-21c860ed0ed2 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:3a8cf27a-c3ea-444c-897f-bfadc3abd0de phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:bc8b5788-5026-47aa-a582-69369cd0d319 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:06dc974b-0e21-4444-b32c-381c40ad61a8 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:37ecc5bd-5f45-4551-99d5-93940f87280b phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:4400a377-e9c6-47d4-b618-d53313b39ee4 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:9d8c8ec5-9d14-4c67-bc37-9dc3b4adb471 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:c6a77e05-e8fa-49a8-993e-97ecb64b0cbc phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:1de29fac-3178-423d-870f-7832426ea943 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:4dca21da-f587-4573-a81c-ac246dac3d0c phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:348a708c-8481-40f9-9df1-8af069c28793 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:3fe3a578-8765-4b46-9c13-5a2865c89e7f phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:c22face8-8a10-4513-9edf-00c1e8a2df24 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:bb82c08a-7259-4f57-ab7b-e3ae19050e60 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:09c7cf6b-1650-439b-85dc-5ed0b5825fb4 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:d7f255aa-1740-4e85-81eb-3d60b758258f phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:e8403369-e8de-471f-94f4-55c0b66b8046 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:99d8da1b-21cc-4204-9bcb-a172e001bef0 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:0947e70a-05a2-465c-8706-0b28eeca08aa phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:dea83606-0731-4560-a891-5c62c21ef1bd phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:4c4d765b-9572-4bda-9df2-a7fbd1a0c8f9 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:4dfa909d-6d77-45a2-a94c-d3dbf6d9dbd1 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:dcd960d0-9fd5-4a63-8e04-e5caa5265f4f phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:37d2d21a-e117-4227-a226-7fb165846cfc phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:d4704070-74d4-4343-ab26-4a2b9485f4c9 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:34a9e363-0e03-4063-a6ef-cf2875515233 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:cf7510fa-8d14-4950-a2d9-394984925516 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:c9e70599-3077-4857-8487-b96b52e31935 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:e9864e13-3667-46b7-8a34-5d726c26cd19 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:73f2eeff-fa62-4949-9364-52ad3b61b98c phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:21025da3-359a-4318-ab81-a2b85faace31 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:0b63a3d9-d860-4ba8-b419-fc477f8daf71 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:4c751362-f046-4d40-b261-d04733a2da6b phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:ad0b10f4-7439-4219-8904-1949e2226a6a phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:d03ae4fc-6495-4ecd-b9bc-b5377630746e phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:f88e3d80-4728-42d2-bb2d-27ae06dfa75b phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:5b0def8d-9c0c-4cd7-a1d2-4252c74efed9 phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:65e7449b-aebb-4030-b212-bf7dde0e86bf phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:61d437d9-5746-49bc-9ae7-16d547402de9 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:c9026ccf-51cb-40ef-affd-aae48c299ac9 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:eb894a02-a20d-4596-8735-54304b1ef583 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:7b8b817e-82cc-44f4-bdbc-d84599e7e12e phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:8b8ea8a7-ee34-4393-b76e-a229030f4eac phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:33f01e58-4240-439e-aa8c-d3d4a0f5e6f2 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:7b7e6f54-a936-4495-ac6d-00bf1a44874a phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:a870cab2-4e0d-4ce8-a81f-20414532f8b4 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0200128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:fc7f5a51-891e-4c4d-a4d3-fd5a14f346e7 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:78a33c8a-dc2f-4511-ad68-3e3bb76ca0ba phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:e9b7d098-a40d-429b-969a-0c05395d0b6b phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:6ef1d704-472b-4892-95c0-8c6d1d6b9169 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:33cd8b89-df08-41d0-8885-e932d7e482b9 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:62fa7f02-887f-4ae8-833a-fd43f1ad6af1 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:6ed14771-8c18-4b25-8cf7-6d43195f61fe phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:f03f4514-0a75-4a5e-b599-db2e49ced850 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:8937799d-18dd-4305-9429-e2abbc9f10fc phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:eb1b465a-e9dd-4845-90ef-640f3fc805c7 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:06173a42-1fd8-4c49-a60d-08f5e4136abf phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:ce265eb4-fff8-45f5-9450-297895acc9d5 phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:3ed0db87-7eb9-4e11-aa70-2dd67196c5da phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:0b0a7a62-8aed-4f86-870f-c6de07c8764d phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:3857eb68-9ac9-49aa-8193-c91d798b5121 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:c12a9e44-2a21-429e-9e2e-d5fb14a8dd18 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:47e523f5-2b38-4427-a987-cae7677819fd phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:75e4f56d-7a34-4ea8-b1bc-5a9e504593fe phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:4000a7fe-d782-4e4c-aa55-9bd9c259b63a phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:738dba81-63a3-4ae4-90ea-66b19ce6ccb7 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:fd631d0a-5062-44a2-8bce-1477e68226ec phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:b65dacb3-1290-42fd-990d-9c212146dee4 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:046b6f27-16d4-45ab-a209-a465c4a01da3 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:316c396a-cbdf-44df-9a27-01c7cab8baaf phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:4cd33a48-462e-48df-a48a-b2e1ab3a87c6 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:4ac7a8da-64b3-4bb1-9a5f-cad234f986b1 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:25d6fbc5-8784-4b26-8cec-18471b2a3fe0 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:6bba4377-6b6a-449b-b261-f7a1cf809e8e phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:9fb71696-ef31-4528-a72c-7b5d6e2ef5b6 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:6ffeaeb4-66ab-4439-a0f5-6620c68d1cb2 phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:1667a0e2-999f-45d2-a6a9-30d1b2925b10 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:8e3b62f0-38fa-4b4c-b740-1cc346a27c89 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:4f614c26-eda4-429a-a16b-915eb7724348 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:869bd4f1-28a7-4850-a72e-5aa16d2435e8 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:411d868c-3d02-4501-9c06-fd3c644c31b6 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:6e1618b9-e16f-45e8-94c7-afa18b0ddfc8 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:78875116-47f5-4fbe-9056-2626734ea6f9 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:a112247b-7cb1-4d11-9989-156f8a2eec6f phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:c173aad2-9c83-4099-8c51-7075fde55be0 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:ecce16a7-0553-41bf-911e-e482c74a0fe4 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:5cfdb7d0-3002-4bb8-9fbd-2601d466bf2d phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:8ca75c52-91b1-47f8-81ee-0333cc35b6b7 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:277e1d9d-267f-45be-8306-22505850ec28 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:812d9927-e56d-4aa1-8fbb-4d38c88afa3b phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:96f1d827-814b-4e32-90ff-63fdf9404e70 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:5b1f4746-fe40-474c-9c89-5c2cdbe6d2f4 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0032660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:36085a77-e97b-439a-af6f-07891f7688f9 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:622aa443-5697-48dc-a416-cadd559afc57 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:26fa069d-7cde-4d44-8167-0815cf55d65f phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:4fb900aa-757b-441f-ae93-76ecec257f30 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:6e786d45-651e-4d0e-9564-4535978bd8a8 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36067010 uuid:d0d87b82-4614-4d90-9023-6b28fc7cc9b9 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:9f1f9b2c-2a90-43b6-883d-1e8a1f1a973c phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:cfca633e-469b-4745-8457-48021997cfbc phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36067010 uuid:9771247c-e872-487e-803c-44a78fcafec6 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_disease OMIM:620504 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:38940013-918e-49df-b347-f7e4b0618a29 phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:has_gene HGNC:18423 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36067010 uuid:87c1614c-dd81-4ba7-a022-f0181c34042a phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4f1b89c5-a8ca-4be9-bc5f-dec7649d769a phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:ad609424-c163-4926-adc7-75612ebffa66 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:8da5837b-6415-4799-a45d-b1bf15e03567 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4644f799-fb79-47b2-be76-aafabd260444 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:8f72da58-3205-4750-a15d-7296aff488c7 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:5b0f4c58-393b-4ec7-8afe-55a681b2fb5d phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:de262ce8-69e9-420d-a7fa-7a1e55621026 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:6445776e-e906-49c7-9e8e-51767b333d98 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:ca3ae9b4-f7ad-43ea-a62b-245a63220c62 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:101f9bf1-6e65-4dcb-a41b-b11f3e2842e1 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:80733178-ede9-4053-a7a3-256e9dacbcd3 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:1a0c0e86-bf91-4555-81f0-8906dde1a054 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:d3dc77d9-18c1-4f86-ba9a-29d12993e303 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:5d7df17a-2263-4dff-8ca8-19e2833fa5da phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:3cfd2823-6943-4586-acb4-d4c711de7f66 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:171a94c7-f3d1-44a4-a90e-0001b27de460 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:1bd4d006-2b29-44a7-92d3-852bb97293ea phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:643a247e-bff8-4d2a-a5a3-c03599733e6c phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:cd4db09d-1052-4afc-8792-6a505c1122c7 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:20999dc7-66ce-4093-8889-2b3d90b1ee57 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a3132411-1807-4d74-944d-7bd68a485de1 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a1f80f69-6610-4b2f-bba4-e50ad25f3dd1 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:76add978-3bb9-4640-afb8-23b55707c617 phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:42021590-f0ae-4dc0-996a-007266217d55 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:05e058a3-98f5-4909-aa90-e39a36f965d1 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:a8843256-92ad-434b-8da4-d69c360d7f19 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:8089c23c-d9d3-4697-b4ea-1fabd5875ef2 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:68735128-d5e1-46aa-b6be-4c049bf8d46b phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:553c659b-983e-493c-b440-e912360207ea phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:386c69b7-0cd9-4416-a87f-c19b2df5a804 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:87301171-4b4e-4dc2-bd28-7b7ccaa25119 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:bda918b6-f4fa-4b07-8e04-a95c210ab55e phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:0bc67599-9418-4847-97b8-a8fdf3ff2be6 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:380bf7c4-6a82-408b-9ac4-35c173185a30 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:369e76e1-23d6-4541-9d7a-388c54bcfb18 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b30e6ace-42df-412a-b5e2-7e748737cb9c phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:3526cb43-0011-43bd-aed2-0fc3809f0061 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:ec8b80f0-7e7e-4877-a722-00853c507a75 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:ee0ab6f5-46fe-4a7f-990d-ed3b23c63370 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b3954e64-4de4-4ed0-a016-f23819845185 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b760859d-1256-4947-a7f4-79448102b56b phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:591d9aef-358a-42de-93f3-643ab3913078 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:309820d4-16a6-41b8-8d7a-3ba3621a19e9 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:f1938197-c9db-4434-901c-57bf480ac53a phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:3e9c872a-8af9-4425-a652-27908cd941b7 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:affdafe2-8272-410d-8bc6-8b07e429db7d phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:901a0a0c-bb5d-49c2-9bb3-e89381954156 phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:afc2c320-5c6c-4916-bfd1-4d4339f3d1e1 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9bc65dac-a181-4abe-8fb5-858a31339373 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:25355654-9f8c-4849-ae1c-4e254923cacb phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:fc5bb0f0-98b3-4384-956c-95a446f561e8 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:5c04d7c8-f8c9-4731-8574-1e189244d0be phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:3dd2ac95-c997-4e95-be50-d1da4d8243dc phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:6441a651-9390-4ca9-8d9a-a0523dac3f00 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4adc2132-ff54-4343-96d4-cccdfc6e0e0f phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:b20748ac-e00a-4899-b6ac-ebecfb3d164c phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:a16c57c4-9382-43bf-ad9d-8bf6e4d33563 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4725b1f9-bd47-4abf-a01f-e72c2d5b54b6 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:ab5fd270-5e17-41ef-8bf5-bdf02441a7d8 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:f5466a8d-5df2-4ffb-9e3a-1fd291de2fff phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:3b3370e7-27ab-4f2c-8a0c-945f3585610a phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:cb3f5295-9de8-47ab-bd61-1f9284ec70a1 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:79c960ae-f28c-4d5a-b99f-49f590f116b8 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:933db90d-e025-4bfd-bf71-832f7659a225 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:fe9ee980-8e38-4146-ad6b-2310220ec22d phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b47d5c64-201e-4648-8966-0b514a8e2823 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:31d89449-2555-461e-abf3-fc91e87e8ec8 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:57b79057-f77e-46ef-ae92-4583417591f0 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:03dd5822-7e74-4338-af45-64baae5bb506 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:df3a479a-e505-42d0-abd4-f06d85af6681 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:3ca92416-7b72-45c7-bd01-9964fa759e02 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:698233de-02a7-4798-a92f-c456368ae52f phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:b30c712a-5bfb-4db2-b59e-6b335da71553 phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:29d959e7-3d4c-403f-8bfe-92835609cd8e phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:ce11e357-d17c-4df9-a476-092e649b06fe phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:fa6fb573-fe7c-4efd-932c-2b714d6f0dc4 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:0c1d086a-eaf6-464d-a7cc-a029b3660b89 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:6093ae64-2d56-4e1a-a2d8-d00a8788399e phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:cfcb2770-2c36-49d1-80aa-594313ad2d83 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:7f5889f8-652e-4b24-8fd6-fc761184e315 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:e2b6c108-ee84-4ef2-855c-1a556517cedd phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:0892adb3-6433-4eda-b0ee-e49c6924e305 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4b07851c-62bc-44d8-b9e9-fb2e9c59527a phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:85e79a67-aef5-41b2-9aaf-7ce1dd281e7b phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:673e2ed2-6994-4f7e-8220-fc2d20625404 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:e33e9e57-99ad-40ab-87c4-ab7ebf403928 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:734f23d9-6a0b-4e98-b0dc-b078e3dededb phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:beb548eb-1b39-4964-a674-a6ffd0b555b2 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b6090027-c645-4f97-9227-c4219cf5a23f phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:bd9c9e6b-b096-49ce-a022-cfe5d5211bf4 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:fd881377-c964-464a-999d-7bbd45e61232 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:98c316e5-8cf5-49bc-b5c3-10c38431f3e2 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7636c308-af10-4f0f-bdc7-967667b83cd6 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:57b35364-c215-4efe-bdae-6f8109100bf3 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a6c0cccb-885b-4a76-a2d5-567b1c3fcf56 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:34bfc703-fc8b-401d-ac60-a8304ed13cd2 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:a23cb96a-b313-486d-b226-57b1f4d14e89 phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:01905c47-cb61-4590-b057-f8d759d6c2bd phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9b8096b6-7b23-4f32-96cb-3996bc090113 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:020c190d-30dc-4169-81eb-f677e312d10c phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4d15d0b3-1315-4dfb-9b0a-45b3054143ed phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9d1de623-26e2-45cd-a710-c468a62b3518 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:2c224b14-51f5-4465-b932-56311ee30785 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:1bcfb0a4-5e9f-4b3d-86e1-56245dbf5fc8 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:726fac43-2108-4b51-8d59-77ecf954b73b phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:642f0acd-f8ad-44db-8efa-ab6f1e4549a9 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:d4c44e15-c774-45c0-b80d-de242a42f5b5 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:ff91f857-ad05-4d28-b954-215e015ba8ce phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4e4ac170-0e20-4af3-8194-4d0e84345ee0 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:0fe35806-8c77-478d-b10a-2446d38da5a8 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:3253368f-6900-46f9-91cc-dc382c7b6c6d phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:30fe253e-f980-4914-aea8-bcc0a0bbd5ee phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:8b3ca84b-d65d-4e9c-8303-c63543663c76 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:6d8e6497-a206-47a2-8ab2-c4b92d3a99a7 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:111d90a1-782b-4ca3-bdcb-65cc93e2171f phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:5e7188d8-ad43-4721-8652-76184435c23d phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:47b85276-8592-4ca9-b03a-2f98bb3143f6 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:c6b440a7-ec62-406c-9e0b-78e7c6b54cbc phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:3fbf4227-7d52-48ed-b143-885b218d4c45 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:c2a16ff7-5cc3-4e48-900e-85dc51281951 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:500589eb-c8f2-4dcf-8970-5044cbdfbd17 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:d66e909f-a3b6-4031-acef-7172379dc3b1 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:9de74ee4-154c-4773-9809-e9120c6d2580 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7a0ad2c2-279e-4b5e-9a0c-7d992d0fd822 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:de6c5286-f53e-4941-a537-19507d31a4a2 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:e795c9c2-e819-4afa-b988-24faff3f89d4 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7848b414-c805-428a-9849-8dd1b4fc1471 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:efc5f778-8a34-4aef-8b77-ae8954b1c8d1 phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:3ccf65f1-86a3-4a04-9260-dc71958875e5 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:c258c219-b1e0-4700-afce-8c85738f026c phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:0a6efcbe-14dd-4a58-8efb-ca2c11811c23 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:dd9943b5-e003-4421-9da0-f44aeecf7390 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4284094b-298f-4f6c-a947-40b9bb7d290b phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:1c2365a0-baf9-4407-9ca4-2d1915f8c611 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9b00622c-6401-40ac-b405-f31c7fc158fd phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:89dd0b01-713b-494e-a5b6-555694356f2d phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:d25c0773-f0b9-499c-af32-b3fb7ca67058 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:28608f90-ebfb-45da-9715-a4c2d664fc01 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:b1bdac65-880d-4590-b5a9-2e5b1d9db022 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:1638da16-bd9e-4b46-873e-40be91db19d6 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:fd158b74-5bfc-479a-a115-8b6ea2ee4c6f phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:5b3cd486-e23b-4f7c-a0ce-23869dfa6da2 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:76fc696b-73f3-4dff-98dc-ff89579aaa65 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9cb978fc-ae54-4fbd-815e-d7e919c94510 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:6991e144-d0c0-4cc0-83fd-1d4e62d8033d phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:1bc8fce0-d9e1-4748-92bf-0427cb722972 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:6833d7c4-c2ad-4d7d-9266-7710a3aa4756 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:cbedd6f3-97b1-4481-8b69-bb9b9b26536d phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7a8ba797-19b6-451f-ade2-7ad9a4252a58 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:eb468fa3-14f1-42b7-a513-5c1f90f3a8bd phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a2de9632-ccbb-4ae0-bb1e-fc99b1357ff9 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:840b8f2c-af94-4d55-bbc6-125436c0b58d phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:1c5a756f-98cd-4714-a301-815b820bfbaf phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:29ea1694-033e-4b6d-b6ef-283dd2b8e49b phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a804cf1d-4b8d-4b24-8a79-f746bc5e6345 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:cce0d19c-769b-4b8f-8de2-fe0d4d30405e phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:fc94f636-165f-4671-afdc-740769f79921 phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:669223b8-d522-4fa4-b74b-cbdb66edb3db phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:98e5378a-9c46-4585-9bc2-0e29b8e1912c phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:42153759-a735-480a-bebf-e19f853c3099 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:820c83b9-1542-4ed4-b799-0b8686ae0379 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:6dd1c38d-95f5-4f98-858a-55efa8673d52 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:887657ba-e288-40e9-b5bd-66581907fe22 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:cd06bee1-a444-49b4-89be-083af325b3de phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:b0928e8c-4922-49b7-8fbd-60e2606bb21a phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:abd39005-0261-4f2d-a035-66e6ef85706a phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:be2c6a1b-87f5-4be5-bf27-020d42165836 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:823afa52-e7d6-4bdb-a1e0-c319dc19b6d6 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:8b9bd168-bf12-42c4-b9ca-24de2cd5639f phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:3946d39f-659d-4edc-aa41-8b6af4a6898d phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:adfac149-aee5-412e-aecc-169ae40540b4 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:7081e0ff-7c34-43e8-9c2d-183f9eb8c3a7 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:d981ead6-ba5a-4570-beb4-112d3e850482 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:876a5136-1a26-4f85-b47a-d56d4ec20560 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:53165032-f1ee-4df3-9c83-6088fe2f8a2f phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:1c65cc70-aaf6-4741-a326-69bb93c78910 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:e1f7e689-20f6-4cac-8070-cc44f90fc99e phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:003f5146-f78a-4e6c-9156-7b265eaa6606 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:4c73123c-1e40-460d-910f-b6215844b66f phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a13054b6-a8b2-4306-8bfc-36d5c943984f phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:922cac3c-e3c9-44d4-a92d-9c801e37914d phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:81b0748f-15cf-4aa0-aa30-1ebf2d975192 phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:9e26cc6a-b7e2-4418-ad4f-88c669d7facf phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9dbc2a07-4f89-482c-9eb0-64280a522297 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:086ceb05-1623-4c64-8444-ddf7af905a66 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:18360d4b-2360-47a3-adf7-e85ee3315e72 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:cea0bf34-6d88-4aef-a030-e7a78779ec16 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:b197f621-5845-42e8-8f2e-739e974df532 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:89b75b72-7d55-4c26-9da0-a9205c23c090 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:9bb8f3c6-cb38-4001-863e-468e949ad515 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:18f58f91-4f0c-4678-8c3b-0660976924c0 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:2c9f6e6a-f3c5-48a3-b306-0a6c16156124 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:714ed5f2-ab4d-4a38-acc3-530bf1cf90ec phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:e082e7bd-6784-4bcb-ba69-0ac64eafe12f phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:ec0b1aeb-4512-4ef6-a8cb-27f8261c2f28 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:07f48631-8f12-44be-9f3b-d841469c812e phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:c62d1d56-b93e-41fa-b31c-3b5152443703 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:569f3e9f-ed99-49a0-999a-a5f05dbfc4e8 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:c6d5ef89-b441-41f9-b94a-35d701e4e381 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:d0aa106d-a965-4263-bfeb-503763c8d146 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:4c6450e0-4bb0-4d9d-a59e-4a6413ad005d phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:5d2c8c8d-ba82-48f2-8545-be06c478b7f4 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7b6c2c00-71b0-4a08-ae71-77e0b25b9004 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:0c35ae6d-071f-44ac-9864-3633dac1d697 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:2917d980-8fa1-4cae-b013-d8fbb372d654 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a19e064d-c8c5-400a-a868-aee0fde25bcf phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:a8a086d2-51b2-4bd0-9439-79d3004ea218 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:90456b3e-7dfc-4b89-b43b-9dd76b57aaf1 phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:cf069bf8-8b67-4e3f-a395-86335a4d5cdb phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:b2597e08-d24a-4462-a2da-e569895541a6 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:a7be7a21-6dc4-4fda-b8d4-4415811caf4e phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:88cbccf2-3cd2-425a-a860-457ac8899bb4 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:98d2dfd4-67ca-4e05-8272-4a71ee6a59e2 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:692faf07-d1ba-4f53-85f7-403de2aecee9 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:a5324160-5386-418e-8278-8e00dd46729c phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:31a3fc9b-3230-4254-a512-7b149a46db84 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:0ace0627-6bab-4462-96bc-cd7712a42259 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:aaaa939b-e385-485e-98ad-eea69b54a523 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:339c1aca-e41b-4e4e-bfeb-d8af87717255 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:04ddf367-ab1e-4983-a582-9894057ad84c phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:63f46b7e-95c2-4996-b656-4b6c0b030a87 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:37f22f62-522f-473b-9cc6-fa8cdc6262de phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b2df86e0-156c-476f-9c34-994517a0e853 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:2e82cf5d-653b-41fa-877d-af32163f4a4f phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:371fb408-127d-4c6b-9dd4-8a57d1a605ff phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:ef6ee7c6-3ca3-4d22-9852-9a9404378986 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b5a40204-b739-439a-9f1c-9c72f41903c9 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:57c84048-676c-4e15-b06a-486d80f988ca phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b5f4edde-feee-42f9-b697-84edbeffe0e7 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:5624996f-5d03-4b1e-b96c-43afe702f27a phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:f9ee750d-bd86-4c90-b806-7533f3e45dcf phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7e25fa8d-ec20-4ac3-a72a-bf969b25b6cc phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7e99f82f-9b95-48f3-830e-c057863c6b30 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:f91b89fe-3a9b-4923-8d38-691282473886 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:e2d69e04-e349-4082-bb54-601476f27225 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:4c012c52-29ad-4bed-86c9-3bce734d5384 phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:91a15fd8-f5da-43a4-8bbe-ab09b8c23f00 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:377668e3-16b3-4556-b992-46d8b35a3449 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:413b820d-2033-4142-9b87-473a736cb997 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:f496157c-c5a0-4c62-ad3c-57393ee50a73 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:42de7029-7c67-42a7-b713-ac732e2bbbba phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:3edaffdd-a260-4b2f-8664-9c6daf0bbf9f phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:592c270a-2d0e-4360-a9dd-1045d1f89100 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:d71303c3-e3ce-412a-b085-11468e62e345 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:b3ba3ee6-bb78-4bf0-9641-e4420d162713 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:c6488e44-ed83-4cbe-8000-272df452ee47 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:a6764e4e-929f-4659-86c9-459432b8607e phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0034937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:303f5852-3f74-405f-b25f-fdde66b439e6 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:4d235438-2d55-4eb0-a68c-8c1205da4057 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:bb9cc878-f4a5-450e-8482-4227a159ed0d phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:af836882-9686-49cc-ac20-3a03e68ae969 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:46d8d111-ec5e-4bcf-b05d-4714a0ec96a8 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:6bfb0fd7-161e-46a8-8640-10ed27fdf216 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29175559 uuid:173129bf-e3c4-431f-a4fb-bdb2f0c31db1 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:b68b48a2-2a3e-4c94-b2db-a8384b10ab41 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:fb2f330c-2cde-4b91-bda5-cab6ce550b2a phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:f4fac75e-bd0a-4d95-8e68-8d6e6061b507 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:8d1c1610-e10e-4da9-90e7-7b77515f5622 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:5b8a5221-04a0-4a77-91d2-f525f01e1d32 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0011001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:504e0208-6553-4aa4-983c-a016c39dd75e phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:f87e53bf-73b8-42e5-8f47-37da33dddefd phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:f6c58ad6-7bcc-4c67-82fc-0e4674e156d1 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:1d42cffa-f533-4e6c-b2fd-1e83469584fe phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:e55be5d7-b667-43c5-80e3-69a707360d16 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:7ba50d8c-667d-4b68-99f6-4a77a8ce539b phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29175559 uuid:01f39edd-b0dc-4d8e-bb59-4dc96d3de491 phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_disease OMIM:602398 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:f8f47621-8cb1-46db-83a7-43dbbdb0796f phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:has_gene HGNC:2859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29175559 uuid:4226a7d2-e0fe-402a-b840-7cfcdc42fd67 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:9d615542-4a20-4b94-a2ce-2d9ad1492360 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:3e4315c0-2b66-4986-9348-e9141267d8e9 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:5b768dc4-dbff-415b-9dfc-3f57c1373886 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:5a0fd33e-d3e2-49a1-8a03-2dfcc900b87d phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0000048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:111cdc8c-b5f7-4ffc-8ec9-0c9ec7bfb80c phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0008734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:3db76d7b-2ad1-4f1b-befd-90fa604f4ae8 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:186553d5-3b23-4ac7-9c40-226e44dbe5a4 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:dfa918ec-be81-4319-bbda-e8546a302bdc phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:2b76e221-433a-4403-ad36-a7f430f00128 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0003146 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:f71a53d7-b04d-4106-812d-87a0d5cb2538 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0010569 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:4ad0e9b3-6447-4f42-93a1-0b86049895b1 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0003462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:283ce615-a101-4d03-8d36-0e89182bdc5a phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28503313 uuid:d2999e56-6afc-42a6-98ec-02a7e6d80cbd phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28503313 uuid:8d2f75dd-6763-466d-82a8-844b8d880adb phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28503313 uuid:f67e0e36-5ef3-45fd-b89b-40d3c722677e phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_disease OMIM:270400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28503313 uuid:aab2efdd-1f6e-4e50-97dc-83793824c4f3 phenopacket.store:DHCR7.PMID_28503313_patient biolink:has_gene HGNC:2860 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28503313 uuid:0c391be3-b42e-4d56-837b-e0073f056268 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:4afc51c7-1375-4e70-b6aa-202d341c6686 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:8f531bac-1516-44cd-8edd-4edc448e3fef phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:0be598b6-a2c4-4369-90b2-335ab21a4ad3 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:638c2e85-ebbe-41ac-aec2-ac283373afaa phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:3332a12d-b7fe-474b-a926-afd5cb668619 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:1796c689-bbdd-4ce7-93bd-5f51cd58fe72 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:3deb04b0-8df6-4e28-9ee7-54e92ce128b3 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:8ca7f6ba-e60f-426c-89a2-58fe3d18f0d7 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:a96366a6-bfaf-4934-857f-e92a408e28c3 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:b3a935ac-f6a2-42c0-a33a-65e5f92db0f1 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:521e9205-89d4-445c-ae09-70c323075fbb phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:976464fa-5859-4466-b5bf-8850a5370dca phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:7eef009f-015c-4fc1-b1d3-dda10830c6a5 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:d45aaf78-9dbd-4d3a-86f1-2bd3693e9a81 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:647dd0b1-6dfb-4b88-821a-8aff184dbb54 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:adf3fccf-27e1-4d69-89f0-2b2c9c3d9d0f phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:e6b9dc28-9fc2-48f0-a195-be5190c73097 phenopacket.store:DHX9.PMID_37369308_patient biolink:has_phenotype HP:0012817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37369308 uuid:2dc9f02b-3cbd-4969-8cc1-43ea7477f61f phenopacket.store:DHX9.PMID_37369308_patient biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37369308 uuid:a46fac4d-2b3f-48e2-bfe6-b4b1a08c511a phenopacket.store:DHX9.PMID_37369308_patient biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37369308 uuid:33e12fb2-2e62-41b6-9f8d-8f4e56f5a0d7 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:09d0b1a6-4c63-42e5-a7c6-8a6d62f49a63 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:37803e6f-7514-4725-90ca-b9948df8f1c8 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:6f9cd91d-d7bf-481e-a244-1607ebba7d4e phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:37fbdd14-ee2a-4969-a782-31c99db24013 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:4b3a7393-b68f-4c32-93ed-6da91fddffe0 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:187930ef-9f7d-457f-8d28-91cac7932a8a phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:57fa505f-b253-478f-8ee8-779d989717e8 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:7c237b65-1a56-41c8-ba5f-1ca15f25bbd9 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b99c8145-5bd1-46d6-b4fe-bd088523e7a8 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:95dd1e5c-65df-4925-bc0a-9ce8ee5471ab phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:d4645d94-9872-4307-9b24-1a029c51b3a2 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:7a3a3292-8f2d-4784-add8-0ee20b8e0d37 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:2991d30b-add6-4a4e-b711-cb36b9498428 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:c534c65a-71ca-4d65-9c3d-92f3c4a1b601 phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:41c70472-4e79-4e19-8eae-091a25354778 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:5ac73247-8093-498f-993d-7016adc0c5bd phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:65db3a99-ccb1-43c5-b56c-1d101b4f34fb phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:02245944-950c-4023-b99e-326e38a438d5 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:62a2f32b-5ceb-4c2e-8230-99c2ccb0feab phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1423d2bb-759f-4e35-820f-1ccdf2c670ca phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:2ab2d556-5067-4407-ab3f-6cda8a7d3420 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:378508e1-6869-4a18-9a6e-204f8abffb66 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:f992b0fa-a8c6-4b6f-ac2e-f479a6469aa1 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:13a97fb4-6c3e-41e7-96e4-565b58f4259a phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:53cb6c96-3b20-41f5-94e8-3a90836c317e phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:f373113d-f0a8-4853-8a0d-d5a5e3bcb5bf phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:7777a8da-d955-4337-9a61-b704517c08a0 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:52c814f9-8908-43e6-b77d-07727a888c10 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:c3fb1028-245d-4959-9cd8-204d130dec14 phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:80c56a4e-2f9a-4b6b-81d3-9d07f8c0b69c phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:5ccca172-38a6-4d36-8e35-2f0d33f7e3bb phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:2210630e-52e9-40cd-a6c7-85b436565737 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:657605d9-fad7-4c18-a1aa-cfbe7b2d0cb2 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:8e236a5f-6ae9-463b-970c-20af69bb886f phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:f9f43cba-1bb0-4707-a486-87cb066a08aa phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:3cad9d5e-b5ee-43f6-8121-067b5ddc84d8 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:059b30f2-0e32-4ff9-a28a-faf5dce2d934 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:6e94bd07-9a59-469f-8199-240af6599711 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:dfbe53ca-5717-4ef4-8a09-68039d6d1150 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:1b2abc43-1e3a-46da-ad1d-fed0a769e15c phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:2356a3a7-bb5e-4b52-9bf8-f0d4a1083234 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:6c924cd6-3a9e-462f-a7c3-e4241734aeb1 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:cb011764-6d2e-4abe-9064-57835b6147c2 phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:105a9ded-17df-4452-9435-5edbb9f8256e phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b2488859-0fbc-4980-9aad-25b5a678c91b phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:332321e3-96df-4397-b6c4-1ed880bd563b phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:54a67f44-08df-47aa-b274-21828aaaac8a phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:6f8d5c5f-e735-4d88-80cb-6bdf6f131cbd phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:95c9b93d-e8fd-4638-9237-0ea4c84d1066 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:2f05ba3c-1e03-4dbd-af39-757ed1301f1a phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:3e9789bc-9077-4e02-8397-202cf77aad31 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:619681bc-b65f-4b01-ab64-c058b6b19905 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:40301a12-0da1-4c56-94c8-0e4345bced1a phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:3dad81d6-31e2-4864-b40f-638eec9bd9a6 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:90ab83e0-5dbf-49b6-98ca-c621cfaff193 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:a7e92462-7b8e-42da-a65e-0b78d8a7e965 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:2003c1cd-0280-4155-a028-76119f3c13e7 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:bbc250c9-435e-4bcb-b8f5-874afa19f6fe phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:efb4dc47-2826-4207-9201-bfb2635975ef phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:cb27b29e-7f92-48f5-a109-6ad48368cde0 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:e621ac94-052a-4e61-bc6b-7651c03c362f phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:f6b94936-a7a0-4032-8d81-3f56ade04e77 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:72c3ed02-c447-469b-86b6-837a9d58b6a6 phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:a693b4ea-da3d-4bde-b12f-814cf6c8fd74 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:d883d075-1408-4fd8-92ee-cc2e350b5bd8 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1564d7e8-8540-45f3-a144-b2ea2071c2c3 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:517482e3-6ff6-4ef8-9c66-d7e1383a1d46 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:44e30281-c304-4b4f-acd9-542f5bb50712 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:c189f2ac-8c1b-4481-8bf7-4a666fed97da phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:7ec51bfb-ec55-409c-87cc-c0a29c7ce491 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:810146d9-4863-4d78-87c9-e02e5c7bc0b2 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:03d27cbe-1037-4888-a28c-6d6e927c9713 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:525de0b3-7a24-4a6f-826a-abc7d4b78ab0 phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:1385e341-4354-4b0b-95b8-68bae97aab8c phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:8be75d7e-2153-42be-84c8-0b9d81cddf0f phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:a542ceff-e562-4b8a-a13d-1644cf6461f3 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:9108cc5c-92d7-4395-88d1-edd33086a354 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:89680526-c59e-4cae-a69f-102ed9ceceb3 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:f7ca06bc-5ca2-42c3-b6c4-25435da84b9c phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:56d590c0-0a61-49c5-b96e-f2efd742e097 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:71b4b44f-a090-4c1b-a0ec-26fccf5f9759 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:27d3c45c-53b1-43af-83ca-a45334156b74 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:91a737bd-a846-4d6c-b0f2-f1532779d5a4 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:173d9447-05aa-46ae-bed5-e9021fa36b5f phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:d329e030-fb91-4f76-ae54-063efba6cfe3 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1081a7ff-6810-45ab-893a-4b28cf144972 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b538154a-c540-473b-b54b-c746582821ba phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:54e0e7f2-5b7c-45f2-8361-08501ce6b438 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:93e67284-26e7-4543-9ae6-16d035ac296b phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:d92e7c0c-a980-47c6-8865-dd9030824457 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:0e578663-7f85-48b2-b6b5-ee66364a7bda phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:9c09d61b-3dba-4256-beb3-105f42e68ca6 phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:503cc6fc-54c9-4af7-9c92-94fadbbed019 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:219ce796-b73e-4fdb-8002-5e304d5cf840 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:59b1a784-8380-42e4-8393-8d7591e1fa42 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:5a23bdde-8061-4b27-b1d3-718f5b6e4198 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:4a498c95-74c7-4c79-bae7-cba11490246b phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1499ba24-640f-46e1-85e7-17842c34c9de phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:9a460ccd-7837-48cc-a0a8-b0bd11ac2a1a phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:25d55a3c-4f6d-4ba1-8a96-8aef9b2d4998 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:3818beea-2f7f-42a7-87de-c61df436f6c6 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:73f07f89-a0ee-44f9-a7dd-f48761c781a7 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:4f0b6f7c-7deb-4a21-8315-f95a497e9359 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b840db77-1827-45ce-ba22-53b260546641 phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:dce7e687-751c-427b-8fff-0644097da8fb phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:e0af34df-d564-41dd-9d01-8df23486590d phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:fa6fc041-21de-43fb-be5a-d25a090e0ead phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:097e2b09-7b66-41a0-93de-c01bd4936d48 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:9c060f48-2380-4ab2-b39a-73409b922ac0 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:c735f00b-b0e4-4c4f-8846-6c138abde81d phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:88e690ea-5d94-435f-be36-4d4497a8132f phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:b6d145bf-5f21-4cc2-8a0d-614b60ddb9c7 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:10bf2dcb-c3ef-44a9-8c18-1dab3bd0dc85 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:294f9b9a-b1a7-4b5e-8bce-6fd7a4357d5c phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:84e375d0-f6ff-41c3-81a1-dbec2e3cf72a phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:2b2aac01-f756-4839-a4f4-e39e0aeba5ac phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:ff22b6f1-ef06-45cd-8253-9af2f422e21c phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:e9074892-bfa5-42b1-be3a-0f449195673e phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:912b3680-365d-4efc-9f0c-79c4c9286dc3 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:70468944-d866-447d-b313-9132e1839c65 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:15277b82-dbe3-48c8-8c95-1a48a0629285 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:f48bbc12-9a1f-454c-8d5d-fb34a4a1f56a phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:2e7ea31d-1b07-4544-9725-132db8be914a phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:3ad30c61-b911-48f0-a13c-1c269d0f7922 phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:f6e8329b-7fbe-4602-9e13-bb29b24cedde phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:f4415373-e0cf-44ac-9316-e0c676ff63c4 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:f8679e1f-f94d-486e-9801-133d9b5de1dc phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:5964d23d-0117-4d6a-aa32-a550559fff81 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:8e7ee5ea-5981-4fca-9284-8abebe2bba37 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:9a11f8e3-2ca1-476d-9628-8d8e31e7e6eb phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:52ecbb55-b6da-4fb8-9450-42fa227e021b phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:fde801fb-54c0-46fc-a221-7815eb5b73bc phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:cb09c57d-27c0-4d2f-9610-6b1fd779457f phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:5603a5d5-77ab-45f4-8ee4-73b7cf2315e0 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:4b4cea9d-c998-4300-baba-9b793788201a phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:d647be3e-18f0-47df-ad08-467197ff662d phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:10602f3d-df35-4040-a218-9f80db8df522 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:2e99e8ad-fd5b-4847-902c-66f72c1952fc phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:374c7817-e2bf-4d44-a1f9-decffab24d74 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:3245b05e-bf7f-4e49-b791-b4145d15ad59 phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:9801f704-ff03-44bf-84b4-ed03fc0d8b2f phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:f254a7f0-a374-4dc0-840b-61e146872b66 phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:2e902ead-e814-451d-ad15-40f38bc4d221 phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:e7f4380a-c4fb-419e-861b-7deed159dc5b phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:fd19b2f7-38cc-4d19-8902-811ebea02757 phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:ffa0d48a-c9e0-4a91-9ee3-e1d23d211dbd phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:604b094d-2d93-4117-ab2c-9a4a10c49f1f phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b95034dd-0abb-4cc2-b92b-c453b7abe253 phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1ed00cf6-a867-48c4-b788-4d487b2285ca phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:50982f17-9815-4836-b930-60661b208b85 phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:bef10ebf-274c-4bef-afd8-05aa1f3b27f1 phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:ef801ea9-416b-4618-a366-9fde28e0e0f8 phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:f39f711c-56d3-4b06-8dcb-2b6adf521e55 phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:05ac83ee-bf9c-4291-8a75-3b5391af1741 phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:a34d9dd1-9d3e-4364-8935-1e40544cb4bf phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:9db0fd5d-476d-4687-a3a8-1c7402073ec2 phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1f27ce6c-a572-4692-9ece-b1bfc260acfa phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:4ee606ee-863c-48c2-843c-660f6a8978b8 phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1166b8b0-a90c-4af5-89f8-316fcef096dc phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:11be2895-f853-48cd-a35e-d1f0b8d1894d phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:48add83b-9057-404b-800b-e24634299f5a phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:8b63b8bf-0d7a-441a-ab5e-cb24761c37d7 phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:c5f3cac4-80ad-4b6a-a808-1eb28f39f929 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:99fef6a1-d503-4fd9-9556-9f7198e02f76 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:5c53d3a4-d37d-401b-93b8-49b49dd6fa81 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:fbedd68d-5548-4146-bca4-65908ccbd8fa phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:f93840fe-192a-4848-b2bf-69f8e8d71cf5 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:41ef1df5-3661-48fd-ac5e-4a6fd91fcb3c phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:be4516bc-3373-4689-af18-e1bf43ce42c1 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:d5b18010-9c34-435c-833e-5248979c544b phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:7aee9a36-e109-4c60-b9f8-4be8142420d4 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:ec6e63de-ae32-494a-8bc1-0a57df47b181 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:7fb0ab4d-3877-4fc4-b925-56a337a42d02 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:eceb46d6-9417-4139-b00c-1ed6ab5b6497 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b2dffec8-eb1d-4ad5-872e-5da661b4871d phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:5e3cc8f3-5fff-4916-8023-c2207e4e61f7 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:53163864-85af-4d21-8468-d4a06abe4c2d phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:fd3aae4c-f7a5-4de7-9ae4-adb43045e829 phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:68fb97ca-26b0-4df3-a535-12ea01044839 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:89b29a7b-d42c-4ce1-9e08-4dd6af039d5f phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:33c50b45-1a9b-4743-a759-f96be96fc017 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:925c0d2a-f7ec-405a-ad97-31ebb3b121d5 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b2a136eb-9fb3-4fd1-9822-180388cab49c phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:cdf3f866-f9e8-4fbb-b497-902a09687ec0 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:22f95f81-1e39-4249-a288-d2e3e5ec465e phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:29d6634d-1dd6-49b4-9c17-89d05c8f287a phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:ee3ee980-fd28-4a8f-9c14-84f7b8611988 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:e4c0f3f3-6ffc-4953-9791-f41bc5196ed8 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:ad2686b7-95a2-4939-855c-e7037658039b phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:bf27307f-ef0d-4937-9a83-da4339050932 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:34a29182-aec3-4768-a9f2-2a006a3dce2c phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:dc2ccbd5-2c25-4a09-a496-8381cdabb889 phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:f2573f59-9596-4ec9-841e-6ba84b67401e phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:74a4d0ff-7604-412e-868f-0f8bc1beb264 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:079e8755-b086-46ae-bb13-b51374f89b94 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:5ab72e62-6195-41e5-b023-8e085385f609 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:caecd7d8-8e4b-4fe1-a352-895edf7c97ea phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37467750 uuid:9e38117f-39e2-4418-86f7-d4cea01fd60e phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:6fb57d59-92d8-4fe3-b617-f2bd36dcb0e9 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:d66cce2a-0ac5-4432-99bb-c45271689207 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:1e0fbb81-a98c-415e-8271-0dd7383edb13 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:992cdc45-51e0-4a04-bc86-83c09f620808 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:0480b9b3-c47f-49b4-9579-c801e53d009c phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:b1dfd1df-6153-4527-8a15-bc136676ac40 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:61ab90b5-add2-4237-a7a6-1f8ddf2741ce phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:20a9f4e3-582a-4605-8160-45ed74eff683 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37467750 uuid:cf1d1902-f6e2-4f14-90db-abacb0d2756d phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_disease OMIM:620988 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:c04b69bd-d74c-488f-9a1c-69d7049c4408 phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:has_gene HGNC:2750 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37467750 uuid:8aec6574-ed2f-4d17-8525-c2e748366971 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:b902fa5b-1020-48a3-93cd-48d15d0fb2d6 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:ded5b542-9385-4636-b996-aa653a08d216 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0000127 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:4ffd690b-eb3a-41d0-84a4-eb1bdfc06f91 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:96a8e025-ac17-44f1-ac9e-6931eb38d05e phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:62baf1a1-e557-4d81-be92-2e38cefce8f4 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:d3c7b051-9fc8-4cef-87fa-a2c7c2cec3fb phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:b192434a-8144-46bc-9eb4-adb4d99f880f phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:403e05b4-b9ad-4bf5-a149-b603762eadfb phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:16128d47-7f0a-4a3d-81f2-2d3b07aac1c9 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32631816 uuid:10115550-46ad-4fa8-bac1-7c492ac49aac phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:639c852c-1030-4678-a961-54ff46ab2d6b phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:a7c7d842-c190-4b06-8c61-d41636b1b5a1 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:2b9dfb4e-94f6-461c-8ebe-6cf6b8b73c22 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:05d30601-9f67-44ae-a5d7-a330ad5fedb4 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0033132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:63919e25-35b5-406c-b45a-4b8989216b87 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0010953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:86588f3b-669e-475f-ac93-1cb07bf67c2d phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_phenotype HP:0001171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32631816 uuid:5bae3696-b916-4de4-a5ab-e9f56d907812 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_disease OMIM:620703 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32631816 uuid:95cc1a4f-27bb-4e58-8fef-39b997a2dac2 phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:has_gene HGNC:2904 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32631816 uuid:3133c774-af74-4da4-8694-1e24d016ce67 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:3ecccebe-fbaa-4409-a4df-ec4eeda0a2e7 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:98665502-5644-4ff8-bfa7-e1b576ab7f69 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:1cc83b64-b6d8-4343-82f7-e523de08b33d phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:8a779576-7499-4d14-bd9a-09f28fac220f phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0033132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:c237cef0-dd26-445f-8b68-f3c08a85a5fd phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0010953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:ebc62be4-71cd-4244-81fd-acfbf187de94 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:db8553d4-a48e-4197-b9c6-8c299151588f phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:55be9440-4c5d-4cdb-816c-52a2714af879 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0001171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30791088 uuid:e867b59a-44a4-4fd5-a742-531ea43ab11c phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30791088 uuid:a0593947-cb1c-4b5a-ae39-2e1f8fa13965 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30791088 uuid:1a38e2f1-7d62-4a6a-a914-0e8f23779586 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30791088 uuid:fce82798-febf-4625-b40f-c339d0ff9036 phenopacket.store:DLG5.PMID_30791088_female biolink:has_phenotype HP:0009473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30791088 uuid:f2dab3f0-7e77-4e53-be1e-91aebcbe6e7f phenopacket.store:DLG5.PMID_30791088_female biolink:has_disease OMIM:620703 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30791088 uuid:4edad5f3-1f4c-495a-9d1a-022437ab2bbf phenopacket.store:DLG5.PMID_30791088_female biolink:has_gene HGNC:2904 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30791088 uuid:d968d356-5e88-4832-920b-ed81771f6583 phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:has_phenotype HP:0002948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:ff644746-4e24-4fe1-b106-769841487f60 phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:4bbb94a0-83d4-44be-bfce-5c36d688f5e9 phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:has_phenotype HP:0003521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:7cf975af-f1eb-4828-85e9-5e6c0b0913ea phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:08f1c8ed-d533-4e7d-a311-a416d22b973d phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:has_disease OMIM:277300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15200511 uuid:8fa9d14b-cacc-43ab-8b8f-ce72f1d2f562 phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:has_gene HGNC:2909 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15200511 uuid:0997889f-7117-49a3-a31d-57a478874332 phenopacket.store:DLL3.PMID_15200511_individual_I_1 biolink:has_phenotype HP:0003521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:d536d240-e6ee-47e6-a0dc-8d8ad5a9d1af phenopacket.store:DLL3.PMID_15200511_individual_I_1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15200511 uuid:be916cee-a39a-42d4-bfa4-9d5230fde5ff phenopacket.store:DLL3.PMID_15200511_individual_I_1 biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15200511 uuid:af74ee62-19c1-431f-bce8-cf8633ebf1e3 phenopacket.store:DLL3.PMID_15200511_individual_I_1 biolink:has_disease OMIM:277300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15200511 uuid:5fb67c18-947b-457a-bb0f-124435c5d5bf phenopacket.store:DLL3.PMID_15200511_individual_I_1 biolink:has_gene HGNC:2909 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15200511 uuid:5b48db5c-ebe7-4bfa-8d17-5b845bd684ed phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_phenotype HP:0002948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:0f73726e-e95e-4ca7-9850-abbed534611c phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:2b9e2f8a-2c94-4686-b498-ccb1f82ab1b1 phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:36e8360d-0023-41a2-a008-6df079cb92ab phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_phenotype HP:0003521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:7a6db418-153e-4746-9b61-0a66c5f084d9 phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:5fb68d6e-050a-4564-88a8-0d8c611c8955 phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200511 uuid:3c2fa848-e09f-4661-bc04-598f72b2b152 phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_disease OMIM:277300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15200511 uuid:a2ebe0c9-5922-466b-9974-2b562e97f2c4 phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:has_gene HGNC:2909 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15200511 uuid:18c33b8f-7d2e-426b-af41-612b0d35d708 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:67f5ff8a-5d01-4399-9d8b-a0000e02f397 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37055165 uuid:c79f61f7-b83b-426f-8b64-507d71b249d3 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:594cd7bc-4aa5-4db7-8d0f-e7e4cd6d58cd phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f1a6e855-8918-4933-b5e2-a26115ff803a phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:0db32f09-2b1b-4eef-95d5-48a442695fd1 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c839dfae-c2f8-41c1-b47f-2e4ea6594c8d phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:db56998c-8d7d-460a-b251-7b21db0014c4 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:75263805-6df7-4197-8ab4-4fb3c244d34a phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e31f794b-1121-42f5-b139-11302ed5bb22 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:444a6f07-25b8-4691-962f-20ea669dc827 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:57502fc9-8942-4196-89ee-69da833b14ec phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e741cec0-9acf-4799-bd9d-294784e30d73 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:ffe525e0-5df9-4270-8435-cff3d22c4b8d phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a3843872-6ec2-4421-a240-f408a695db2b phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e7cabba7-bdbb-45ad-b677-d4b504982d36 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:fcb1234a-c5fe-4ca9-85db-8904ec952e5d phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:5b004fea-7db2-4a8a-9ca5-2e1b75d01ef0 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:8786696d-42d4-433b-885f-428464c4857f phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:35ce16b6-85e3-44c5-82d8-83cd89f2edde phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:dcfab567-bbd5-4eb5-830c-0a4d5fc3e4bd phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c7bc8ee0-9560-490b-9348-66ee650a0eee phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a661976d-ff9a-4aa9-914c-fccb74426a63 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0030353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:0f0d0d51-aaa0-4385-b24d-3a1a69b88edd phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:ce7bb2be-3f01-4e17-be90-f19c179804c5 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:3efe45cf-c390-4193-92ff-acee13835777 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:877e6b39-352f-4838-9318-5e312a1fa6c2 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:31139931-017c-4017-947e-b61cff7bf6b7 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:96b1d6f7-daa7-4f8f-a6b6-774e4931de26 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:5a1f4502-b7f3-461a-8341-7f587b320d8d phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:19bc5c02-225d-42f6-be4e-899dafede837 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:a2a7afad-d649-450a-a104-84f3a1ad49c0 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:83661451-d8b2-4f8a-8c72-964e769fc89e phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:777a3f38-9b25-49e7-9278-5e317b7856ec phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:729b591e-484d-4a0c-b0ca-ab203cadc8bf phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:9d87c1a1-22b2-4a7f-b758-0823ac6d8c31 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:ea278728-c494-4afb-b4c8-165e0e218564 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:68fd4223-b0fe-46a1-acc9-ef4b07962cff phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37055165 uuid:780be43c-1b05-4b22-af9f-9a9999846199 phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:d8fdbea8-5724-4bed-867e-23d8eb1ac152 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2c73ff23-0aa9-414e-ae1e-9fbf91414c4e phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37055165 uuid:f0b4dce4-dd30-4b52-a425-d3ff4ce61b59 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:07738bed-93c2-4e4c-b9db-13b582b005ea phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:cb266316-db24-4e2b-ae3f-2d097f117e1f phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2c0acbf4-5889-4535-bdc3-d61e77dcd312 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:5c135c21-0256-4418-99d9-49ca10a15001 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:4a43b0a8-a62f-424c-83f2-fb18bba7be1b phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:d90df0e3-43fc-41eb-9fe9-188b1f218afd phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:08eca9b6-92ef-499a-906f-68c428331f0b phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:0686167d-fb4e-4272-b054-9267b38d2db2 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:75e394af-978c-4b5b-b0b8-d27d2009e0d8 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:41bc5bdf-4def-4aca-b868-56ecec3babee phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:7ad22754-ac63-4d2c-bff3-211447fa14f1 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:29db0c8d-ff0f-466c-84d3-8b4d90073b65 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:af5bfbd4-26cc-4385-bae5-152d27b2fd96 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:badf5a75-4b59-40c5-b68f-6452b03ac80a phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:7a0ea1f1-906d-478d-81c4-90d2abbc799b phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:fbed8cca-ed43-4825-bf7c-4d6e713f2004 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:fce85ecc-8874-4c46-a6b0-38b5fe4b6470 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:667164c3-f691-4827-8cfb-7e472611713e phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:ee19b1c8-1b95-4bea-987a-54af2553a332 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0030353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:85d5cebd-3841-405a-9d51-4ae9cfefd6fe phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f6463970-080c-486d-9d16-56c5c928812b phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:8bca395a-5aa7-4268-9c60-5363f368bb4e phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:3ccc2265-5b9d-4789-b25c-9a915290e240 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:2c46d3e9-650f-4525-b238-c75da17f0f97 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:84e3f1fd-287a-47be-baa4-e97634f59ddb phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:4382c215-7796-49e4-bfb4-bf2ee0a77981 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:4d5b97af-7be3-44bb-a586-d28cc91e04bb phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:16585b04-1740-4cdb-9424-871c025976c2 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:11c037f0-d26d-4b03-93c4-1713b3f300cf phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:6b351bda-e271-4849-9667-71e65da75506 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:8aa863fe-2f93-4463-bfaf-681118557a89 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:cfa45ca1-525c-4a25-9379-88323ec508b1 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:a47ece29-2d3e-4762-80db-f9f152a1d8cb phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37055165 uuid:7b988faf-3967-4e79-9711-6c3a7e4bd030 phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:d549d8ca-a121-4d85-bd41-c2609d1ae041 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:37055165 uuid:a4c79fb2-6976-45ee-9f5c-ab4e60a67987 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37055165 uuid:928961d5-a8d9-4f88-b989-f2c586e8040c phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:d9af8fb6-ba8e-4e38-a87e-ec41242b22ba phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:bde4f7fc-024e-4799-8871-26767b1184f6 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:449d19b1-384e-4dcf-8ccf-41adb34b13d2 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e3a3ed86-eac7-4419-844c-d7cf0d3ce17b phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:bea1777f-7b93-49eb-86aa-8552b4ed0a15 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:08e4e43b-6b86-4c4b-b691-669c718f1e26 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:adc895b9-a0c7-4515-9a59-b162a8449bb9 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:b11f2331-155e-47f7-b634-97a01f85176a phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a4f6b728-0a8d-4268-b600-b68f663408cc phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:8cf8a4e3-e4c6-45e4-914a-0b72aea63bb5 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a6f2dcc6-b25a-4b9f-9e8f-ece6d78dda94 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:693fb15f-421c-450f-8ec6-4d73d3a0f9b8 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:236a3c82-26f3-4bb3-b279-291798f39b33 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0030353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:36a4f3d3-9c66-41c7-ba33-cbbb16b71591 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:1f2aa1ff-5170-4865-b505-d3b5da5548fe phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:486463b2-c44b-4144-80d5-498534ad20c5 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:de20b322-51d3-40d8-bf7f-436add1989bf phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:6c9ebc2c-f263-4ac3-aac6-ab8ce871b4b7 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:2878c85c-27d2-485c-8987-67e93d9a2cb9 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:0806ffd2-1144-47ed-aaff-836ea3446547 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:293dcfec-2ecf-417c-ba4c-6a53572f5b69 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:6850935f-263f-4420-b929-f90d408501be phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:6a165804-8d12-4348-b178-f943d5423bbd phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:9c22187a-495f-471a-8fcf-273ecde30d6d phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:414d3171-f64c-4697-a4d6-e1cfc380e3d2 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:8ea8d7c6-60d5-4422-a6bc-34a18fe9c068 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:5dc6bf77-f72e-4e00-898e-ead954010cdb phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:fa93694a-5d18-444f-9695-337bf9f490d3 phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37055165 uuid:81d97668-a067-4341-8f95-74dcf53a710e phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:6ec35459-97e5-4419-89f2-f08231089259 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37055165 uuid:badc52d2-fb6a-4995-a02a-853dabe5d5fa phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:dc332450-07e6-4836-838b-13234ca9c759 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:be9b6c9f-e1e3-4338-9b09-a09ae3a497de phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c00d5777-aadf-4f0c-90f6-fd6cf792f4a7 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c7803e8c-17e3-4268-a0f3-66c58452033f phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:8e991edb-53f4-4140-885d-69a22d98d79f phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:4c1b6a68-0a29-4be6-89b3-7aed735ae200 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:53726ad7-5e8f-460c-afba-036a05644181 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:dcafcaa4-5740-4583-9e3e-f8db9e64dded phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:64e317aa-9685-426f-97f8-ed7b9a4f80bf phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:4e0fc6a2-4403-49d8-a679-72c24f795a5b phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:df9bfbbf-d864-4b7b-9c51-8ab9c5baccf2 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:ba040e58-822b-4fd0-9d58-51c1bdc163a6 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:3172dcfa-f819-4a93-abde-67a311e884ea phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:7750cab4-3f1f-4ce4-baf5-5ca09d372420 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:fabf3e6e-a403-4995-a0a5-e06cf42132b4 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:78e97f5d-9959-4880-8d53-13e1d770a47e phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:046def60-5cbf-41ad-9b49-2f574f8af509 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f62addfd-fc05-4f25-bcbb-4e7440611d50 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0030353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f8e09f6b-a3e2-49ae-9b94-23824bd53f1c phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:19f0dd92-f5c5-4ff5-abed-b6a691da443e phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a3764fa5-fcfc-473f-93a2-859af5a1cedb phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:1ab62b5a-92fb-434a-9974-bceb5414ddd1 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:15d1bdd4-d101-4311-8777-b653a934739b phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:ac0ce869-d50a-4b6d-b455-a8d9807aace2 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:6060ba52-5809-476e-bc2a-7e5d7512b8a9 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:91e89b35-49af-4574-8a7d-1a74d810d8dc phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:d18404bd-a545-49f8-a8db-39bf6fd26cc7 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:5c99d1cc-b1a2-4488-a401-f11a8e9d3ca1 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:e2f1168d-16b0-4239-b47f-a494c2c387d3 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:cf0cc00c-b3e5-4297-91ce-1bc513430c7d phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37055165 uuid:99a11a5c-cc1a-4e8a-9495-c42cf127ffc6 phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:0e3463dd-7a3c-4202-b0fc-c8960f4653ca phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2718523b-131b-4d42-ae70-2e0926f4208d phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37055165 uuid:9deef1a7-309a-423f-bd7c-58a97e52e14a phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e4cf9cb3-e96f-4a50-86b2-7df822ae8b13 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:acaa85bb-f1ce-47a3-bbac-d082210bbd10 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:b597acf7-01ab-4173-a2ae-d3d553f55fd0 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f3e31254-322c-48ee-8968-722de4785ccc phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:b7237530-d512-4b4f-b1d8-0aedaddbeb68 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:3c5562a2-5747-4e14-ae39-c743532e6ccd phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:30db53cd-dba2-4718-a8b0-f6ecd66289aa phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a417a43a-9a69-433c-b279-8dfa93111011 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2ecc45b3-965a-4943-872a-db7af61776ad phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:6a115d45-1f7a-408b-93ba-2cf855d86c32 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2997028a-d885-4335-bd0f-0a55fda68e09 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:292fbb53-8d75-400b-92d6-5fb2014a8718 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:fc45776d-d89b-4fee-ab50-7e68f8ad8d6a phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:4f550bf0-e9f1-4772-b4f1-a6fc40b02a61 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:66a0a162-cda7-4e00-9499-f9aeca457bd9 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:974e0bab-7d5b-41c4-92ed-152bd8d0441d phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:1564d231-b7b6-434e-b23f-980fdd7d25c6 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:841eb53f-7bc1-43be-848a-d29d1a32e29d phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:fc3184c7-29b0-4367-aef4-1b8b37663b55 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:55791680-3605-42af-a47f-e7eaffcd63dd phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:c9f749ce-e003-41fb-9d56-855c1319b222 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:5e961b81-f834-4a37-bd6c-3518d2019a6d phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:86b75bd5-7ad3-4469-b4b8-86fd3c4abbe4 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:07aabff4-ba5d-4576-be54-4bf7f128b02f phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:5c458dbb-9c23-44da-9687-35838ed5ccdc phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:fa57ee6d-3650-43b3-a3a1-39d899d35260 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:641d852b-a4b6-4906-9340-879403beb5b9 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37055165 uuid:a925cbfb-6245-4423-bc2c-6b5112fa4019 phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:439283fc-cbf2-4d39-b87c-41701a7598c9 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:7f6bbfb5-8597-49d1-8abd-be9454ff744e phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37055165 uuid:6fe02ac9-63a8-4b06-8d45-7c1d8b03c8a5 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e5629254-b84a-4dbe-add3-ee64bde4edcf phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:0a853e66-c6aa-428b-948f-33d971fe2c26 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:37308fe1-1b4a-4818-acb8-e31d86d859fd phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:0864d71e-67be-4fb5-8940-085768027554 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c6c58226-f892-474b-90da-2d02345ea425 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0003015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:7fbe561c-73cd-45eb-9828-98a27392d141 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e59306fd-a2eb-40b2-94df-12691afaf831 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f774ef30-1a7d-4559-b9c2-03ee283670cf phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:7938c452-b34c-46a8-a5c6-2eed122f599c phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f9c090f8-dceb-408c-9df2-062731740ac6 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f18df8f4-d744-4285-8e71-639a7322a370 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:abe6d930-a1ca-4988-8099-cdd47700c052 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:db361be2-bb71-4978-9a3c-3c0836acd5c9 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:1ae20828-e2b6-4cf6-8529-659883232bfa phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:fec3509a-2e1d-40dd-a841-35b331856c8e phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:b2ac54dd-0110-4822-a791-8b657edf8848 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:9a71ed27-6906-4a9c-afad-3ef9efe62d9d phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:9774a8a4-3f2f-4d2d-83e1-d458658663d4 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:68766c57-bf7f-4a7d-99ad-16d230d775fd phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2cf4ac9c-8efb-49ff-84d9-1e4ec731a290 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c9f0cc05-9036-4b6a-9140-12debd408906 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:a724fb4c-0506-4512-b932-efd0a82b0553 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0030353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:f839f187-a97c-459a-9907-e73cb03b6bce phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:271c0e88-6d25-478f-a2c4-2d99a0b795b4 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c761d755-7a78-4317-ad44-0ecc6dce80e8 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:06288b53-395b-4415-a8b5-f85528ac8967 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:a9415a7f-f0fa-4ded-b6a6-7c9e376010d3 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:378f59cf-5c79-44ac-a96b-e4ad0aebced7 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:17b8450f-e15a-4ae5-a056-67293c418f64 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:728fa04b-80c8-479e-9701-d4855ea298c2 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:1058571e-70a2-4457-be78-545c18fa2a1c phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:cba4aaaf-82fa-415f-b952-fdda51df823f phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:c840cd87-3c29-4329-bc0a-f830cf87f852 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37055165 uuid:41d772aa-1a4d-4e54-8348-cd0a4fe828f3 phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:f66c6e75-e009-419a-9653-00d44ba550bc phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:37055165 uuid:5a37b238-bbb7-4809-a66b-70e21090b6be phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:37055165 uuid:711e4081-28a4-4cbf-a045-4f8db1be4ee9 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:06e01000-e0fc-438d-a49a-13eff9c2f5ce phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:1022f0d7-4565-4db0-bfc5-849bc01d5604 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:8953cab8-eab8-4f4f-99a6-3fdb8c67342a phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:896ee445-94d3-4cbb-98c0-ad9cdf4c5522 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:0c817ca1-4152-4239-9296-db12c4e660cb phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:eb6850f7-cf38-46ff-bd6d-d00c805402dd phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:2d3af3dd-7000-4820-b7a0-54fe3ece7a1e phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:66935088-af8c-4cee-9e5e-41d2c842cfec phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:e7c01a23-840c-4236-90a9-1b010982d62c phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c2b02ce7-d89a-470a-9e18-c6afc7072727 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:14025774-7ab7-4ea8-9405-4d3bcf297606 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:1d10896b-f87d-4d16-8d90-de09bcd47367 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:53c4d0a7-4c07-43be-b101-801b138e9e06 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0009803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:587544ea-7dd8-4ee5-a30a-f48527934efa phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:c4335cc7-67de-4d9f-9342-ac4c81adfa4b phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:74183d90-1b98-45dd-91a3-43749731cc10 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:5798e7b8-8765-4cb7-bd3b-7458b823b1bd phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:ef4f1645-6e8a-4457-846b-cbfb841fae29 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:56e5332c-5c59-4375-9762-059aad710115 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:b3955e46-ca42-4429-bd71-6d40e5325917 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:4a20bcd0-668c-45a6-98c7-0381c5d0f6bc phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0030353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:28a0153c-09da-4909-8b1b-c2913f8b7d73 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:cbdef1a3-364b-4c38-a508-07b599093dcf phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:9cc30ef2-6c98-4720-8eac-7f8f1509aab3 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37055165 uuid:5b07340f-545c-4bd5-a628-10ddb99b68f8 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:fb48c239-4940-4193-93b7-918791c9c8c8 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:99863453-4cbc-44bf-b2ec-2e2787f22f55 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:5c1a93c5-046d-4d78-9f09-41252df7de3e phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:79d97e0d-4f36-4149-a773-118ed6ada385 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:6000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:6a16e0ef-e905-4ea4-ac15-c9a726b799ee phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:2775c3b1-d89e-4747-8907-8900b94df572 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:a5c358a8-567f-4a91-983c-53eb0b78ad6f phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37055165 uuid:28db9caf-142f-4df3-a397-e880759068aa phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_disease OMIM:620819 biolink:CaseToDiseaseAssociation manual_agent observation P3M14D infores:phenopacket-store PMID:37055165 uuid:74442252-1e43-46b6-aec4-a3f950fdfa42 phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:has_gene HGNC:2939 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37055165 uuid:47760583-a589-4cd2-8d13-9e336aa54254 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:f61cab6e-a46b-4abf-9b45-9eb9a944873d phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:62682c1e-4932-45a4-8620-edd47b243a4d phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:cfc6c033-7198-4b55-ba0a-4c7bb9d73075 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:52c5c0b2-fbba-4cf4-8e21-2833d7ea4381 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:be559079-51ac-43a7-9f11-019cc23cff51 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:60b4253c-9fb2-4e8b-8cdd-1997cd848021 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:cfe6a698-2f65-4e3d-8d1e-3419ed1425d5 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:5dcbf8f1-1d1f-41ce-aa58-673909f448df phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:2cf0281a-deb5-4eb2-a16d-07cd7aa212e6 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:b2ab6d17-e364-4545-8d60-b830b1291ec7 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:567d94eb-e851-417c-a10f-9eefe594f33a phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:4c512d45-ed7f-4b32-b521-0d201b66ae96 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_disease OMIM:160150 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:19b7f12f-6288-474d-bcfb-2d8f11db32e5 phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:has_gene HGNC:2974 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:aa3019d1-e0a2-4ed0-884c-05a40b5e9d0e phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:37839431-ab85-4419-b125-d689cded04ff phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:7b6c6e0a-de4d-4e64-ad48-12a67d69f4b7 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:05aec6ac-0083-42a7-83e7-a36221ce1588 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:d1c5c3c4-6889-4bc6-a816-f61fed0ba467 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:cfa276e0-380f-4668-96db-fa4a9dfcbc87 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:a5c8cda1-5a52-43e1-b317-58c81ec79bb0 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:96eae8da-b22b-4d60-86c7-902edf0d349e phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:ba1f5997-cb6b-48e1-98dc-b5148a21857b phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:159136b1-aad3-4e4b-b7ba-75e9f2667ba5 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:e3f9d307-da10-4b24-9895-985acc72125e phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:c67d50e1-fa0f-4b0d-885e-e33d8ab036f0 phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:a8555751-c304-4348-958e-de916ddd63bc phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_disease OMIM:160150 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:7cabb624-1929-4e3d-ac68-b9d0f2a703ac phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:has_gene HGNC:2974 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:0f399b9b-70c9-446c-8aa5-f34a45ecf00a phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:48312b02-91bd-4214-be7e-8e1d4f80c918 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:b7e2f75b-f19a-45eb-8a97-a4d415b330be phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:c30340d9-d925-4346-911e-1e268794b3a0 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:a0909e36-a91a-4fe5-864f-5c131fe045c9 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:7e91c26a-f399-423a-a1e3-b1f3eb2e977a phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:4b7f4bff-1e79-4e04-b6e7-02ef189cc151 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:e29e4292-64f7-4177-a39d-7d4e7b65de31 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:575430f6-fc1d-422e-a86a-faee1719974c phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:549d906b-dd3b-4114-8da3-1f9b1d98caa8 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:16d7e773-6e79-4923-b6c0-cb7b7a5da0c8 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:7835e092-6085-4a9a-83cf-d07e209ef535 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:587a0c14-8075-40c0-a3b1-12a6772cefaf phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_disease OMIM:160150 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:6b711f6a-7dc3-4199-8e80-1cf39be0a264 phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:has_gene HGNC:2974 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:0d79d3a3-125b-4207-96b7-69c9bd22e2cd phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:be7ea2f2-916b-4756-b559-ada1eedea09d phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:25ded80d-3eef-4e9a-813c-c1d7fadbf325 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:37a8c2ee-7aa0-4ee4-99cb-3852bdab552c phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:340ebddd-4547-41b1-926c-476c24d123fb phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24465259 uuid:993ce311-7962-4de0-b084-8644c17172c7 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:4e8bb05d-7be6-4bd4-8902-c5d5a719cb30 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:fd8ca3c5-8e4b-4cd1-8cb4-fbe13c870799 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:63169ba5-1c8d-4566-a00b-85c1b99d4c2e phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:3a55bde3-d9bf-4638-9c97-ce1dc591d262 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:3ed4daaa-505b-4374-a53f-01bca820cd3a phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:5c7d5cfb-e122-4b96-ae29-fa04e9909faf phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24465259 uuid:0df35194-744f-4708-8509-b6a502b82d17 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_disease OMIM:160150 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:bdfe0ac5-a2c0-429e-9882-1aac05984a09 phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:has_gene HGNC:2974 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24465259 uuid:216ddbdf-2d4e-4ccc-ad62-51d9a2493a76 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:09a5962a-cc52-4534-b431-f8593ade1e73 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:6d508938-1557-4d2e-8580-76a8ec66c099 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c39c5d7e-3ad4-4138-ab90-d292058fdaec phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:7eda1280-c294-4b05-b935-0492246a7135 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:09c9a8d4-8dc5-4323-a480-29a3967a0f7a phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:86cf838c-c82c-45af-bc76-e9363843c3ea phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:685de429-d491-4a81-a03f-740a8655292f phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:aa502306-b436-47ee-a44c-1dcbe5f17c4e phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b91f2629-7e33-4f25-bf88-69d91b8bb6dd phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:a94a7dd4-850a-4d72-ac0a-88360b361064 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:2f0b3272-ed89-4e03-bb78-65010e1155fb phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:2702aeb4-e931-4242-ba1e-a7684a718c9d phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b784100a-3150-4cbf-bc16-0be3cc6d6058 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c61a4ad8-a352-4d9f-8f18-daf9402f8b06 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:f719cafe-9dad-4465-a5d6-38e571323018 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8b07301e-b186-4952-b81c-deb2d34510bc phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:555b7e09-1e0b-4e56-a5d9-dbd9b4fd28d9 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:4218eadd-25fc-4170-9f3f-c9443240768a phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:6b28ec17-0104-4f69-8f69-88b34721e01c phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:a719dd88-dd6b-4919-b63a-25eabfb3e30f phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:a8092a11-eaa1-40be-8b25-4046037c59c6 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c31cc2ac-d0a7-4b19-b5fe-8e9f6e82ba52 phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36952639 uuid:ed91cfbf-03f4-49e3-9540-42d024ea1eae phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:b1f8d582-67f1-4826-8cb0-0492e0fa01aa phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:36952639 uuid:75c1becf-b7c5-44cb-a42c-2f477c7091d4 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36952639 uuid:337fa837-22da-4752-b7f6-44e012f202df phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:36952639 uuid:cfe13477-c233-4d16-a02a-14b69899bae9 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:bb98da77-b4ed-4118-b4a9-e1952a6c63c5 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:c38e3046-b106-4d7c-9fdf-53a059e390ee phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:da7149e0-4efb-4c67-98a0-b09b4e70ea77 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:f8718967-16d6-4a77-9a3b-13f3ba93c675 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:956ce89f-41d0-47f1-846d-52827a419708 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:9a2aeff5-4ecf-4bc0-9a4f-4d168ef00eec phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:6adbcdd9-2df4-43d3-a6f0-d3d9aa1b2f86 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:cac5492c-76ca-4589-be46-f47794453c99 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:a98b1514-10c6-40a7-9a0e-746cd42f10d8 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:12f0bd54-2943-4444-8290-874853eabf22 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:34208a03-d8b5-4ae7-8af1-50c61211d9dc phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1f092d32-953b-4a2c-b5c3-431d13a6da71 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:32edb948-5977-4be5-8117-8bb3d652af50 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b2ac0047-d757-4c3b-81b3-15a65e1375b5 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:32491196-d28d-4b52-a4ef-40f85f4493d2 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0d470ca9-a472-45f2-a6fc-726acc6a11de phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:58477e06-35ed-44cd-afa1-4b9414ddc3c8 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c9e2e5e7-91a0-4479-a452-1d2d95f3b696 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d9a7a61a-1dd2-43d3-bff6-2c132bcbeaa7 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:f9355fb9-1f04-460c-8983-12c3d83e61b6 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:36952639 uuid:cdf90495-3355-43af-ae14-2650d6f1b671 phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:9f6e0e6d-247e-4a2e-909d-85c311ceca1d phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:d4e49712-6a41-45f0-a3fb-6dd38f8fe84d phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0100280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:6056bc75-39ac-47b6-96be-ffd2bf06bc9a phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0031123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:51276052-ff45-409b-b810-d305a9a23389 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:6dd45d6d-7692-4baf-b930-4a15a401486d phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:d0e4318d-750f-4cc9-86b9-8a62079042c6 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:a8f0afa6-74f2-4a25-8b0f-b6609af87ae2 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:c5ec3309-5760-4e1b-9a89-c52de6f85d50 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:8e4936e1-3bf4-4c97-a5df-546a10b5dfa7 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:5d621d9a-067a-4a10-ac08-efd0a6725eb0 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:547f873b-d84a-44cd-9acd-626196d89dc1 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:685e6755-c5ee-4a85-892e-ce55261dc120 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:a05afc77-1532-4c6b-9b34-3c14b771709f phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0000265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:00319af1-eaae-453c-99ec-b1b16c3c7178 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:097be476-b573-4fcc-9c9a-d3a7aba7452b phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:b55b47e8-2a2c-4125-89b2-5856d0fa5199 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:c7a6de19-c383-4c7a-b2d9-36fdd58baea3 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:f763f37e-6449-4ffc-92fa-3ea015ff9bcb phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:03ad946f-21dd-4446-af21-41909ddbe28f phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:4f532ce7-d144-493d-86f2-3cf2f724ad44 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:210c7023-8251-4e45-bfca-46f75cb9617f phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:eec0298c-a3cf-4a84-abab-a2c2e2d5056b phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:c3fbe954-eb73-401d-adc8-30be50b8a8cb phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:f65a264e-eaad-4f3f-b940-7f713322be3f phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:772e634c-5bc1-431c-9362-5506cc40c692 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:7116d2df-ff28-43bb-889b-13e6b1cc0079 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:4eeb369d-671a-4459-a1b5-1bfe6171c60f phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:ac6af15e-c8bd-4df7-9553-421e1918cd58 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37342957 uuid:0fcd529d-91e2-4e3a-901a-e093e5187c76 phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37342957 uuid:dd407d5f-33f7-4772-87e3-e944568e1fa6 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:616c0b46-2844-4652-8be1-7cf2960c23c0 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:21bf2a1c-a31e-4d87-9f14-27bb879072a3 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d0325991-0c49-4943-87d4-a8f0dbfb5104 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:07d3eee3-dab5-456c-a7de-6f888db44765 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:de05ba51-233c-48c9-bb61-06fef10ed230 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:e58cff22-40f9-4ce5-8a12-373bdd74a985 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:fd57b9c9-3e0d-46c6-a96d-69aa8e6e3fd0 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8f85ffd1-8aa8-4103-872b-2cce9044142a phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:041fc3b9-7e18-4f4f-8a51-e48fa8c13a20 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:70abca44-182d-4eb1-8df2-3d9416b399a9 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8d277ecb-6df4-4263-9b10-d239812eac0c phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d0fd47c7-0dc9-46a8-aa03-fd7b85058f62 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b94fae09-313a-49cd-8cb3-2ae9bc21f929 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:fe62591b-0988-46fb-bbb5-ecc36b1593fd phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:bec2c1a4-e129-4a2f-9174-7d317946ff91 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d73f8e55-fd05-46fe-b613-91f4d6c05c9b phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0d007e09-dfea-4966-aa26-54c922d9ac31 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ba778379-da1b-4aac-8245-6a48d8459581 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:fb23e857-e803-452e-bf4f-b4f9f53d3fa5 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:4fd4dd16-6d2d-4d8c-ab40-e82229fb3191 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:f5b65003-9615-48c0-8ab3-6f47e438c7ed phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:f4ab3c33-da3e-4ec5-ae04-2dd8d951af37 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d988509a-6dd6-4fa6-844e-63eeecd59b95 phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:36952639 uuid:8ee1bd89-db6a-49d8-ad8c-ddf95f20e60d phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:12f9702b-1a85-42cb-bd1d-bcf744fc2302 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:36952639 uuid:03a481a0-6b16-4d03-9678-121508914a1c phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:36952639 uuid:da47e259-bf33-438d-a07e-3c92b57ba4fc phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:36952639 uuid:b2267885-3dda-4fae-852e-a86ef477d8b1 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:d088312f-183b-4e51-af42-321cf7041462 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:7ef01b01-e824-443c-93a5-f3289f307136 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:bf7a222b-db95-4c09-850b-4a9a2b5b378a phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:8300c443-d11a-4d74-ae6c-890ff049c98f phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:1e5e4e3d-4465-4d92-9de2-2b95182b819c phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d97c4d83-aa2f-4732-81d4-2d0c3b571ed0 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:a42ee6ec-8abf-4963-8b1b-96646fa03ff9 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:51245e1d-0492-414d-b59a-4b35eb4f6890 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b82670b0-3e34-4ec3-a7a1-e1a9604b219b phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:417963d6-db41-414b-939f-d6dc583c53d0 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0edfa6db-5252-4a85-9623-c4235cb7892c phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ef758395-52e6-4191-ac6a-c7507f1e8910 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1565fa63-fc26-4b14-b664-6619891b4217 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ea617419-79fb-4c53-b1f1-519ced116e4a phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:cebcecd3-af07-44bb-ae66-5ba5d5e3e5ef phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8ca7fd5a-9e8a-441a-be5d-419afe2ab952 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1b17d707-410f-431d-b00e-b5f60eb61f97 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:3cd51fd2-64d0-460e-a6a0-ea0b8ba37938 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ca712f6f-3de3-4142-b7b0-506add79758d phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:75591632-ee4a-406e-a804-79d5c0b203be phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c09f8069-0eb5-4f85-92eb-0330736afd6c phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:36952639 uuid:904617a8-131d-4da8-a667-8d06c2809d31 phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:a0df1b61-f8b8-4203-9756-2a2f86a59eee phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:37342957 uuid:9382ca67-e07b-4b2e-8d0b-8abbafeaebe0 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:1e8f6bbe-6477-4cf6-b818-d6f3df20db93 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:a372fede-a173-4265-99cf-01c98aef2568 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0031123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:9c4ba168-57f0-453c-b219-8e6d27df6ea8 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:888f0fbd-384d-4627-b21e-038a1c1c990b phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:b2652bc3-d1be-4789-922f-8e3cf29cfd90 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:52dd4611-04f4-4d20-b746-16b6578fbfef phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:fe2c4a2b-ec16-43a8-83de-f5750e91d0b7 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:1fedae07-10e4-4625-b495-a0cee384378a phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:3781a858-6182-4ca1-bc19-8575ee0c0e2d phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:d3590db7-8e2f-4b7a-9013-1890cbf71057 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:1558e4f1-6582-4b54-b99f-109c3197ee3d phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:bf43d014-692e-4ccf-85e9-4e0ed199ddbe phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:ba1ecaf5-561f-4766-aa8d-cefbf7d800fa phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:3ed92951-6d35-4955-8760-416502f510fb phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0100280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:5733e685-16e9-4545-b011-413649095d71 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:91ad5800-6c38-4798-a676-1072ae923e83 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:78126774-5cd6-4343-b3ef-6c5fb729e87a phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:9866ee3d-83e0-4eb5-a6d5-16b555465d9d phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0000265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:b95db35f-10b5-424b-9f7c-ea062e45c313 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:a0809f6b-3576-4f4c-975a-f091b878654c phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:d8410d53-859e-46e6-aa46-75aee34d5fd3 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:68bf3623-1c30-45c6-bf0d-9fc936cb3b4e phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:89f40d35-8468-40e2-ad18-d9d0dee3f8ee phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:c34993dd-afa0-44f4-851c-6870339d3d3b phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:21dcd298-26db-4f66-9c9b-6dd939f1daac phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:4089a2d5-cd07-497a-82e0-848bbd207e6a phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37342957 uuid:04179640-7e18-4a31-83a3-1d1347facee5 phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37342957 uuid:f8e40840-1ba4-4fcb-8fbb-65ce21cccf17 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:37342957 uuid:4cb281c6-dbe7-49e9-9520-e5595303c114 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37342957 uuid:d8045202-215e-470c-8a24-1d2381721408 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:34dd63a7-88e1-473e-93fa-7dc4a82fa3a3 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:23ce2144-0c3e-4616-ab28-aa744b8fbf6f phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:4f05f7b5-19c2-4e39-a68c-b0c255fbd0d0 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:b4b9c89f-5aa0-462d-bba8-9a5c925b023c phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0000265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:f5157f1c-37cd-4756-acfd-fb0105dc910f phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:b60c7026-0609-496a-96e6-df055e2a105d phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:61140454-1f67-419a-ad2b-112bb4f455b0 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:d5c6c915-aa64-4ebc-9bd9-bc7aff307bb5 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:a6bca883-73fd-4a71-8721-b4c4e6979ce5 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:d2499ea6-aa5c-4882-9df8-3ea10d48cb45 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:12038a47-dbd4-44de-9add-1b7fa8f170e1 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0100280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:526771d3-b5fb-450d-bd38-6840167def06 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:4dd50ec6-7701-4203-b046-1622dab77f9f phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:1637eeb1-1335-45de-be62-c5c6777b6efa phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:f383d24e-7778-4332-80c7-00f38a4da6e7 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0031123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:7c2bda51-a20d-4364-ba82-ff2146166db5 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:3f929877-15d7-46d5-89c4-ece1d4fbb741 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:f4b712a3-b542-4ea2-835b-f73247c3aadf phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:43ea1c98-fdc5-4934-93a8-d4c50440e576 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:3a35f03e-bd47-4f58-8edd-8cc6b96e950d phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:9d204954-bf47-4f06-9227-1fdb7fecd693 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:d1d1a11f-86c1-407f-af62-43049b7d8a44 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P1M9D infores:phenopacket-store PMID:37342957 uuid:8bbc6b61-fe0d-4685-b02f-656948757483 phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37342957 uuid:a71ab580-0c87-472c-ac7f-3e1b0ba34794 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36952639 uuid:890dfce2-4b0a-4837-8a0d-eea614e32509 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:cf3958ae-fa37-4c73-8660-4b47ab7f63f7 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:f5b5aed8-0866-4236-889c-813c6cb29dbc phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:4a0f140a-7dff-485c-bb7c-ce4026bb19c5 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:6966d2f4-52e9-4243-bce2-eefbe3949a62 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:70d9de00-0fa2-4c65-b92d-d9e3201b67e6 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c185d517-35ad-4a35-88e5-429235aef27c phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:50fa4b83-a77d-4f41-af25-0f3c659e502a phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:cad8110f-171a-4148-8224-31107e740073 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0d4e0210-e742-4b3d-9078-1f3c09251ff2 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8a7d05b7-a868-4891-8710-95a9c2ae900c phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:02db65b9-98ca-494a-a8c9-1eb67ac5a736 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b48f32a4-6840-421e-8cfa-20d7583f740a phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0274ba77-b1a8-4bda-860f-78aa5989182c phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:12be1e43-6b87-4a8e-b9dc-4d75858ff34e phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:6dd37bfb-f27a-4d59-8f1e-efa0503a1b2c phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:5003aa4c-c33f-4781-a534-f0fee51483e8 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1f5c3e99-5db4-4897-9504-9286ceda270d phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:92dec32d-44fa-4678-a32f-1ecf6e304d0e phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:cc034579-0fba-4eba-8590-71d6a930998f phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:50bf6a22-4c48-4179-8fc0-688d729f0135 phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:29d113d8-45db-4ea6-afe6-869a3cc3dcdb phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:dcb689e3-ae08-4b44-aaa9-e64a54472cef phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36952639 uuid:4bfe3118-e916-4066-bf03-19cbefabe53a phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:4ee94995-c667-4398-b120-d4f3a77755be phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:9e95aaec-6d5c-430e-8a39-cdcff5f65eef phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:e8339cf9-f229-48e2-b65c-6c105891bc59 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1c48bcc4-f774-4a26-8f73-ed9473567955 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1631b898-4afa-435d-93c2-10bbfc9c1bdd phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:4c369c6f-4f8b-42e7-8dd7-1deda7fc87b0 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:2344416b-2187-4d72-b9d6-30b06cfdd838 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:74c1ec44-5e03-40a7-bd46-ab3a867d5496 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:82e3c174-8184-4e28-8189-5437f7d329d4 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0746da9c-a879-4199-ab1e-40743961c0de phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:bf80e406-e495-46fd-9018-4002923c2537 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:b837c731-fa7d-421d-b6a5-0ac35f631699 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1162f236-db65-4094-9e97-d8579c92d200 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d19bcab8-1628-4210-824a-a6fb522b1311 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:5e79c680-de3a-49f3-8fe4-f7dcb3cd2abe phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:877bd567-3c26-46df-a61c-cc0c05e34a50 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d70574a9-940d-4bd5-a7aa-fc376ef9ce62 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:94d0b154-30b4-4b4c-9156-9116412cd489 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d8bae5f8-d7a1-4570-ac20-c6c705a0ff6d phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:5e5c69dc-941d-42ec-8bb9-a536d8130acf phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:04be1252-2fb1-486d-b08e-32de12f2476b phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:13101f40-72c4-4c98-82ea-c31f641d7146 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:aae8ecc9-d056-46aa-ba2e-d2e177d46ee1 phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:064741fe-644c-48c5-88d4-1d0a887e14fe phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36952639 uuid:42fd5473-bba3-4345-a737-e2cdb6d8592c phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:589e7fa6-5edd-4982-bff8-98cb32098e77 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:54fcd808-35df-4fe2-984e-d1c73f208cc5 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:48893d3d-f2f1-417b-8dd5-e3efc05d3235 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:9c9036b4-e0ca-42a6-81c8-8a78b7225f37 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:ce8a5298-8ba2-4179-9cc6-43f5b789a6a5 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:137921b1-c71d-4063-9857-987b7bbf958d phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0031123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:7fbed8ce-9b16-4ac5-9ce3-8c9c95634046 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:60856f86-6095-459e-8679-03aadacf2e48 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37342957 uuid:a891ec9c-8724-4e84-9c78-af50e1c32394 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:f20e09fb-dcdb-4fe2-af68-52899d6dba00 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:68da4b93-6991-40a2-a236-1e646e4305d4 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:0f782122-1149-4ee7-9334-62425dc4b1c9 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0100280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:9d469ff0-ae20-44a3-860a-4318b22a30ef phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:b9513e8a-9500-4e8b-afac-ddb495513d22 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:34902e6e-6cc7-49f0-9727-dd827b859f7e phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:3848adad-ce78-4a93-89cf-a5a2384674d0 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:a9b1123e-37a9-4f5e-b31e-933bc9c3f83e phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0000265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:dd85eb82-38ac-4526-bbdb-d84d384d8451 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:571a33b5-bbd3-45ed-9435-d8fdeca8dda0 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:8f8c99b2-21dc-43ac-ae92-0c17ff779c29 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:77a1a6d2-fa52-4986-ba0d-ac9633ade56a phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:370933d7-5028-4802-ae6d-836e2c3a1813 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:de1c0f19-c32d-4874-b3ec-72d794509082 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:7e8e8a01-cba2-46ff-b6e3-eacded37c616 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:73520650-6c87-4795-8104-49d4cf58b346 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:6509f0a0-1dbe-46d5-91f6-c455da315c41 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:3c7a0479-c5e7-4e22-8bcd-e6ae93fe9e3e phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37342957 uuid:6725370d-d8be-4651-b4e8-c103f87457e6 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37342957 uuid:460a5b64-8a77-45bd-8644-22f06dd21c24 phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37342957 uuid:0ff6cc35-61cf-48b6-8106-f81190e7e362 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:36952639 uuid:7dd33561-ae3f-44d8-a7ca-53ea61b19fa7 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:36952639 uuid:a57675c8-5073-42e0-b9c5-c4b7d96d6635 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:36952639 uuid:7fef5ab7-f732-4b26-bf33-0ef0ee12cce2 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:e4688891-cf81-4dd9-bb64-0bd272748e3d phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:6089c8a8-e9b6-45a9-bfc1-ff755af95c4a phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:3fb815f4-76cb-48ed-b636-8dea2be897ea phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:eda9f6de-1ced-4bc1-b7b5-55a3a69b67bd phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:da22eeda-b746-496e-96fa-0e6560852961 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:d1bd80e5-b8e0-4992-8cee-84860b72b4fa phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:1c7f345c-3907-4003-a47a-dff23e07670d phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:a495678d-fa47-4ec4-b370-e31dbe09f2fc phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:865c7646-8fd2-4ba3-8faa-f189f6b14688 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0535192f-b205-4598-9f91-df4d8fb2ea17 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:83bf15cd-c254-4d6a-bfae-25c1ef95383b phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d755830d-bff0-4458-bc89-2a0b744a1dd1 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ae6372e6-5562-4ff4-9f1f-5adc5576c682 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:4af1ce25-e096-4eea-b139-aeeb4190af70 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8b632a3f-bc8d-4d05-b3b1-a9a7dccbce8a phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0870d313-06d9-4d4a-b83f-c16cc1e03f26 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:14c6f274-e19a-4426-a1ea-14801d2ce21e phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:8e1d379e-84f6-475d-b33e-a1970249f85b phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:fb3333d5-2a13-4ed5-950a-71de47a0e44a phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:67c2a4c5-8042-4b5b-b911-e287641f2456 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:e5f41e48-cbd9-4999-9a34-77d63f8aa69c phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:d4efb767-5962-4018-a818-dd1521dae0ff phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:36952639 uuid:08682fd7-fc28-4144-9d3c-0b421e92d8c4 phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:b3d81ea3-b298-4d6a-aa2f-6cf460a31a99 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:36952639 uuid:69e8418d-b4ec-4155-9f72-e40ade99f2bc phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36952639 uuid:740eabbb-4c39-43f6-b471-826e2bac4a99 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:f2d219bb-8b05-45b3-bb52-3985ab7827be phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36952639 uuid:cfb96491-e563-477c-866e-7828d7bccc1a phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0007417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:4124573d-3712-4121-96fc-7c19fa178a9e phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:1e4b1bde-6f56-4d75-9e73-34ab2b16fdbd phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:36934ecd-dd56-4115-b53c-7055f5277062 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:e2f37cc9-65ea-473f-92b5-fc5c4daff660 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:776b3909-2ece-4ddb-aaf6-10dee4f4a937 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0032564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:83313237-c834-400e-bf0e-dd77d787c391 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0012490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:75ed1a84-ae2e-484b-ae97-1c9db86c24b4 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:42f08e2b-f8cd-4bd7-8af5-e0d073b7c6c4 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0031234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:80326ea1-f76c-4df2-9a5a-1acf7c8bd4b1 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0005764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:5d84e580-ee72-4981-bd7a-e8b3bf9e7faa phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0002923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:c60b74f1-4c4c-4deb-bd9f-a9fb2ec25922 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:228c8db0-cf27-4288-b38a-56a9882a38e5 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:4000025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:33e718ee-b69f-40e7-b67a-28a3ec875aab phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ca570498-0e66-438a-9714-27a211c748e4 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0032069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:207a3fe1-5ab2-449b-8435-6e9ef5d091c9 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0033028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:6ce9a96c-8948-4298-9bc1-7a14b89e079e phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0003262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:0f1b1f81-9143-4a62-9f36-e25723814499 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:4000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:ed8b55b5-bbaf-4736-a479-3188c79b7386 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:76df0146-bc55-4c2a-8bb5-5cbd04cd28ac phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36952639 uuid:59862219-096b-49df-adf2-7f9cd1a7b991 phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_disease OMIM:301109 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36952639 uuid:df2afd92-b420-4e1f-8411-3bd110225fff phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:has_gene HGNC:23483 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36952639 uuid:051c0620-36e1-4f04-aa20-866b898aebe6 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:86bcb6db-e741-4549-8020-47fb1385f221 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:b1752707-f1c3-4ee2-a0b3-00d2c8c0131d phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:6fc189b4-d9af-4e59-b8a0-4e9d5247569f phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:02af43e8-e328-41bf-a713-acbbcf4998e8 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:99b8ddab-729b-4315-8bda-4aeb1be1a810 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0008940 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:4e0b541a-0ae2-4f08-8a8d-ed598fc4fef3 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:3c91682f-7318-4069-9781-d267ab6092ca phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:a0fab70c-ebf8-499c-a8af-d6b4d08160da phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:9118554d-eeb6-4780-9f22-563ca2df05b1 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:156178af-0889-41e7-9c52-1ea559b453a4 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:db9c2306-9ed7-4550-ad83-00bf2ca44d05 phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29058101 uuid:846cd713-07d5-4283-abd0-7b02239e3fed phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29058101 uuid:c7fb7690-2e21-4284-89e1-9da573dbb845 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:2cabf719-4e98-44e2-bb6b-49da28f8bdce phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c8352e0b-d0f1-4800-9659-6b2319acbfff phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c8920a11-a0f0-4371-a15c-ad53de71e494 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0410333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:87c137cd-cd53-4340-aadf-28b86175de25 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:14b6fbc8-e6fd-4d30-9ba4-16584ac59639 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:0f8e712e-f58f-480f-9eee-5140cd441dc6 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0012384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:9c81e814-703d-4075-bf91-e609def9c4f1 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:85d8e607-7202-4fdb-bbad-712481d9caba phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:cb76cc0d-5920-4512-9143-70cafdfcab2c phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:5a20fb84-8d99-4f98-85b0-3454e9b72418 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:538c987a-7b1a-4a2e-94f2-41a7498ae6cf phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a61e7b52-e125-4069-8a02-429cbc416740 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:d2579c81-b4a1-4e84-aa1a-1abbe9e1cc06 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0012203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:2ca08de0-1488-4516-a495-2a7b66962aae phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:729614ab-7409-473b-a4ec-bce6e5815b2b phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:eb739948-ef8e-40ae-a2c7-bd372ae0ec79 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:8d4decf6-b8af-4e7c-b99c-61f58e80c516 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:4f328e86-0a57-41a6-bde2-72e51ffe1d81 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:88eaa841-3328-4247-86b2-48086228c54b phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:597eb6dc-3ea6-4328-96b8-b219bf1ffd46 phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:f9395085-c483-4fa5-add7-5924868189f7 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:1a94e8b2-c775-4cc6-8fbc-82b967f074f5 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7cae0a1d-943f-4a97-a142-8ec156de3df5 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:73d039c5-0d4c-4a0c-84fa-3ef9f3ec722c phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:eaecb0fc-1a32-4dd0-91ed-49b18013eb26 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ca782610-7da6-4a35-8662-149dcc0f77eb phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:fff9f840-a0d5-4525-a054-30adc5f8e36d phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ac8adcc5-52b3-41e4-b360-6210deddd08e phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:59d5bf76-92d5-4cc2-b1b4-0a35faadfc81 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7d1d9135-eb04-4270-a9ee-fd3ccb5883da phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a0e1b9c5-e2dd-4abc-9b7e-08a4b35c70b5 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:f0692514-83cd-4d19-8110-82b204132a95 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:79a8c012-c5da-4b50-947f-ae5a74af5c14 phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:4ea8a827-b37c-4223-bb67-1e3ca32a089e phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:d8732b57-461f-4667-8b52-3f01c49adb9b phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:fe0de49c-6110-4105-87ae-caf7ff432ddc phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:78939e9e-df4a-4fe2-9630-aaddab62737f phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:08fd3f07-ec86-4bd2-88e7-576b6b240b88 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:07950117-ce08-40a4-9c6d-c2fba048e584 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:9c9f7e6e-db65-4f0a-afdf-ce937faf0f26 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ae0606c5-c83f-43c8-aedb-8c035ff2a385 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0410151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:d4932024-9666-4a9f-8a4a-039c691e5feb phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:fd6fc417-77cd-45ea-b77f-bd60c239d077 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:cf191eec-0f59-4675-9755-bc930e8d5d6e phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:700353c5-f9f8-41ba-8d5c-2ddfde8e7d9c phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:557baea9-e1ee-4782-bdef-6bc3b3ff0398 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:5f3852ad-2784-4ca4-ae8d-63ad55dfc156 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0032445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:de8f832c-2956-43fa-b821-cb5553d9acf0 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:f3383ca2-cbc5-45e6-9821-7666db1fc75a phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:3ad56191-77fb-4161-8644-c189bcb2cabf phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0000265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a906b4ad-416f-4e51-9a5c-17528800f73e phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:513567f4-1c2e-4677-b11c-cd8724a17ce3 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ef4d2722-a8cb-4630-94a7-e66e3e04792c phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0005353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:cc14ddf7-7d23-41f9-a293-3e1d966cabf3 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0410333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:daffd164-a94a-4f43-909f-319fb008f642 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:9c584312-3cc7-42a1-9945-e23ef0436240 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:60a2bd37-6cb1-432c-a92d-6617c2a8b3a2 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:df28de32-61c9-4b44-9035-be99d27e71f0 phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_phenotype HP:0012395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:b43957aa-8057-4bb2-8fcc-2ee519d38a6a phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:df2b68bf-dd98-4648-bed4-ad104c836c0c phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:a4934120-b61b-4dc4-8d6c-7fc36eac7eb1 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:b3f8e243-aece-4fad-8760-792d14c91605 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:6beb6e30-8ef1-412d-8f33-96e780ab02ac phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:30660732-1b12-4635-9077-f36dab143930 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7a083beb-b7fe-4ff2-bdfd-db1495ed4617 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:0d263ec0-a779-4d6e-826c-20891a4986cf phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:0249f90f-e0fb-4fbd-87f7-756cd2e28100 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:3e3d5e99-aba0-4ef9-a4f7-f8574fd48dfc phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7dcd54c1-0bd6-4fd0-8055-43fdb2833f37 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:527ba2b9-3b75-4f39-88f5-49230c3fec0e phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:343550e0-85fb-41df-9b32-862bd271f920 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002860 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:3632326c-3af4-45e5-a602-03b0681dec34 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0032071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:8143e116-e616-4625-8062-d7d3821540ce phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ccb6e249-bda1-4316-8682-02f518f60f5e phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0032022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:e22d78f6-bb85-446b-a436-2f3db513484a phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:e0fe8811-fb65-42cf-af76-b4f0e68b9ec0 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ce126798-5637-4ff0-adf2-a21d015f1362 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:0d84adc3-360b-4ce3-8e5e-fd974057d6dc phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:6c33daf1-5aea-4abf-8caa-4a0ecc92ea85 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c08730cf-6b25-4c4e-8213-ad0a134618ff phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:d58a7ae4-3067-4028-a491-29abda01e115 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0012384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:6c5e4f82-763d-4d8e-bc4f-d281b6ac6090 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a0c3ed9d-d4a6-4d5a-b750-bc084c3273e8 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0012395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:4efa7ee2-17e8-48fb-9ff0-31e353bf11dc phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:bd273674-78a1-4c99-ae7c-c81f8daccd93 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:2c3bccfe-93ef-4803-ab11-0dd8ec91c6ec phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:08560afb-f9fa-452d-88f3-b71b662b16d0 phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:8f8eb520-6472-48e8-a604-1f7eecd77ed5 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:416ef5c1-65b0-4ab9-9434-ad4c9f796c5b phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:906193a3-9d48-45f0-8348-1be0f5a8f6e9 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:af7313ef-a521-49c1-9058-8be0530028e5 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:854b983e-fd54-46ae-adbc-ce9fb54b091b phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:79cf80d4-3d75-4b17-97ec-d1241b5c72b9 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:eb46c681-710b-4b12-a9f0-731ca9d5df0d phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:95fb5fab-6a0b-4983-98f1-795507ac8569 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:85aa1c0d-14f8-4dfd-beb8-bf0160bb9481 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:4ec0cb72-39b8-4218-8228-c953d6c4a5d3 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:89094c0b-604d-4a72-b09c-097a16151a4e phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:24c1ec77-104f-4a55-bffb-24d98bdcf300 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:12a4230d-c133-425e-ae7f-e16d35083fdd phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:9d515235-1eab-4d9a-a41a-c8935c8a2f72 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:e3132e22-bf74-45c5-a80c-4501e58a5d5f phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:2cadbb8a-9e0b-4ddc-a771-2bd29a050df4 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0410017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:3bf2f9e2-2f30-4597-9fae-184feaf10028 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:1bf3c5dd-461b-4842-b366-065b1d3734f1 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:1201ca19-af45-449c-9bdc-63509f2df694 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:5b6a725f-55d7-4bf5-ab0a-70de6281b631 phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:f46dbd2e-6557-4528-9cf2-4fb034985b70 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:1c17187b-8f5e-44cf-9d8a-c7e6d3ba6582 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:4d0e29bd-1f57-447b-a8a0-b14004c6e081 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0410330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:05f6a96e-5764-437e-b896-51d7ae0abd80 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:cb8da65d-7197-4196-befa-8d1ab34653ad phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:d542bebc-91af-4d7f-96cd-983b18a5f1df phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ead24ec5-0126-4e7b-b7f3-f56216d42f25 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7e348f18-5390-444e-85d1-3401a7f70e34 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:3358fafd-543c-4cea-8dc5-bafd46ad74f7 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:96cbf1b3-3362-40c0-a5ee-ac05910b6c48 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:d4eec7a8-2209-409d-9c04-85e097d17c38 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:415389fd-7429-4c92-9477-ebd7a702035d phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ff144438-3434-4061-b826-af7375b0464b phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ca35fb95-27a7-43ef-aceb-bdf99bd23f01 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:5cc3f3cd-e15f-4b53-89ac-0e421ce81797 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:ff1563ee-631c-4c32-b4f7-0800e6903b39 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:ef602a98-1e5a-4414-becf-3ca64799284f phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:ebf18ba0-e0d0-4aa7-8333-ca6ac0fda293 phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:54b17dbf-24a9-4d64-a8ef-978d2b32d2bc phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:75abd610-9427-4460-b2b0-1cd55350c23b phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0000491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a458af3e-b798-4062-8848-3c3d4bfe3519 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0032160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:b39e9a0f-ef70-4f34-9634-e36d97583fa0 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:b342877e-5dd3-4cbb-a31b-03f8aa5c701f phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:5215650f-ccc4-44bb-8d9f-1ddf261d3eb7 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ef708b60-09c4-4672-8a0a-2f2365ad0da7 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:0547f308-d94f-4afa-bfea-8ca1186f953c phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:896127ed-f67f-4fc1-ae5c-cde10704d049 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:8b3be678-3f83-4ecf-aefb-2298550fd832 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:721dbae8-a00b-4570-b4de-5011f9a1c5f2 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ce6e4e88-1437-4a3d-ba7d-957bc6058778 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:447d4c0f-17f3-487c-8137-4d6c6182daa3 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:2a5a9ec9-a50e-46e0-92d1-d4622cd76e95 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:2cfbbe48-d37f-45d4-af46-26c51e1ed032 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:89642d68-5a40-4bed-b728-ae9af7867389 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:16c18562-c329-4531-a76c-4eae3f99a265 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:cd852f55-aa06-46bd-bcd3-bfb8e95b4fc8 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:b5d1a82a-8b03-4905-bdb5-6a27edeebd56 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:30c1e678-9daa-43dc-bb63-479ff2085194 phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:73640ad6-294c-47a7-9a13-289b1b2201b5 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0000491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:d9031812-7429-4d8b-8803-b33eb6812e2f phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0030417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:85e37d7f-f4ea-4314-a6b9-fea49056fe2b phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7b1c3261-086f-4ca0-88d8-19b54eecff7a phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ef4c383c-aea5-4fd8-81c3-83720afa5b31 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a90d1d36-9f81-4f64-b171-b8dfa6745731 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:71379168-dcd7-4d1b-9656-48100e07dfbf phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0025419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:fd9c1c67-ca98-44b5-bd13-08e43ef1baa3 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0410017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:acfddbc0-e6a8-4426-863b-d63ec91118f0 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:1f9b452b-bae4-4318-924c-24149b0ec95f phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:9f8df9e1-52ae-4ff0-8661-afadd0547eee phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:6c0a968d-07a3-4542-b9b4-b4f0aa0d54b3 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:7ed65a20-c1b0-47b9-9570-559730c64e90 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:22b3bb0a-f9fc-417d-8b7d-d40467f5b24e phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0012204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:264776cc-7b64-4aea-ab62-e6eec8457fa0 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0000265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ce690406-17eb-47a8-bb80-07190a3e5874 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:6ca265cd-eaa4-46c7-a3e3-e812e1699722 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:f3633306-20cb-456a-bf63-fe7defcc5a85 phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:d9597e23-b637-47a9-9c7c-bdb36c196488 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:29058101 uuid:7f63da9d-a80c-4816-9aac-2b7450d59c05 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:36e5c16a-6d45-40f5-a300-6e4cb7f6119c phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:10aa30b4-006f-4169-bf42-708caad0dbc7 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:4b8920a3-b92e-48c7-9e28-08f18acb7e09 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0100281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:32d34ea0-5ab7-4636-9059-55f1e26c348f phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:520b0d36-6d48-4633-8ad6-19426f10c7a5 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0033677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:3e445965-7344-4486-a4db-31f0655b1ef2 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:82ba9ad5-60fc-422c-9d7e-be8216000e7b phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29058101 uuid:9880bc1d-2343-4d67-bc95-2a43b70fbdb1 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0008940 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:aa5f8135-c6ac-46a5-b9c6-b800ae8c33bf phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:8c2c4abb-f9d5-4ec2-a619-39136e796a86 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29058101 uuid:35b234ed-a9f6-4fea-a0bf-837302d8c7a6 phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:29058101 uuid:8b1723a7-2ec4-4f71-852d-3c28403cb47a phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29058101 uuid:fac0f99b-2258-4151-a5a5-ed0dea231d66 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0000491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:f52d612e-2a8e-466d-b886-3d6ddcdb5780 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:b8a269c6-3525-4e21-aa7f-f9d0972ec651 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a80beca3-1884-4ad4-a58b-6e07116dd1d3 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:44bae388-ef4e-44b4-80dc-f617f69381e3 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:98ddffde-6e9a-477f-b4b4-013832be04e1 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0410330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:60c8239a-f8cd-43bf-b0da-324eb972363f phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c2fd533a-74a9-4aaf-8ef1-7115737c2ca6 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:61ed334a-6679-4887-b3ad-181f577cde7b phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:3cf83b76-e7dd-4f98-a2ec-b75a12b60852 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0410017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:951aa9ab-918a-44cd-84fc-4f382e234cb6 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:21790ee7-6606-4f15-961a-45d51d31d7fa phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:510dbbb9-deed-45a4-be0b-320f2cd1eb07 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c89b5206-ce05-4bcc-8904-af9e0083cdea phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0410327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:9cf2248f-07be-4aef-8e9f-802e40b8e382 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:fc23bb85-c52c-4d68-a7bb-0ef4c70052bd phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:ae154d3f-4d1a-47fb-b82d-3cf02392332e phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:e99d7443-6e4a-4c49-bc81-30cfa6421750 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:1babb6b3-4ab8-4c1e-aeae-17bdf3bae6a2 phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:b39cfe03-bfea-4562-82ae-33437e5305bb phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0030417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c29b09d7-39c6-4db5-acf6-03ab6c828c14 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:90328428-54c5-46a2-87c5-3f3dc8e45399 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ffcfae09-d168-4e85-b089-22c824b2bad3 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:09d5e573-f356-492e-bd4b-7e4aa84b4742 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0012204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:94e39995-d9cd-4188-9e3a-c9d4722dde19 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0020106 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:5078a7b0-cbd7-4ce1-a0cf-22ac4697999d phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0000491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:796f2a08-11b2-4e6a-a851-a831df5e4d23 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:2ff8bced-7956-4e25-9228-eed9769d870f phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:00bcbf5d-52ed-4f0c-b3d6-de80532eec5e phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0410328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:affb9578-29c0-4736-8289-07a54430755d phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:227ea8ea-da75-4759-aed6-3ce18141eeb1 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:928f977b-41d5-468d-a7b0-90936286b209 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0002860 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:83fe0155-a900-467c-b280-f81873199610 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0410333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:338c57f9-55c9-4a93-b18c-1fead217346f phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:55bed5f0-c017-4dfa-b524-3a4f2fa94d14 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:8805eb7e-c2f6-42ab-ab3f-7c2736b17ce4 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0410017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:fdaca053-0a42-4e50-901d-b79691db5dd0 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0410331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:0aa35791-4486-4e91-a7a2-223651777449 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0012192 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c447ed37-2adf-4423-9ad6-fec79e2275c7 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:cddc7232-f384-40f4-a121-44e34ded6e6e phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:61705a22-8f47-4847-806d-e1fa4bc7d729 phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:316717e6-9e03-44ed-836b-e6e874c11923 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ded89da3-e311-4360-ba66-36a37b329c62 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0032163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c0ab34b5-b74f-41b6-ad96-c54e8b21a798 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:cb7d6c7f-2c48-497d-82d8-8783d471866c phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:48841cea-e77a-4e0c-a6f5-d3dbcbb71e81 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:e63bab49-cc0f-4f99-b4fe-d2a93a102cc1 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:a34ea001-060d-4c02-8766-42c23bd77e12 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:07c2d1bf-6da7-4551-9da0-24d0dc78fd34 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:5f89652a-ed48-4fd2-9baa-427460815070 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:67fe07aa-d746-4d08-972f-1938d8056e71 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0033000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:1a4bb0b5-2771-43a7-b0d6-22c9cfed82c2 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0410323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:ec63fe08-1210-4cab-9841-97a64ca05174 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19776401 uuid:c7aee22f-61ba-4222-8d72-5873bb335af4 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:aea8acab-0b1f-4896-8f0e-c7317b43265d phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19776401 uuid:f4813996-c2d9-44a2-a715-5ffda8c3785e phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_disease OMIM:243700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:ed7fa94d-2acf-43bc-aa1e-1715aa8ca4d4 phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:has_gene HGNC:19191 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19776401 uuid:02091c8d-b314-485c-a13b-ea42924e1aba phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:38d3fccf-5095-4ddd-b6e1-a16023ed1943 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:01e2d0eb-fabd-45a8-b523-5c80601ac90f phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:79af746d-8c56-43c3-aac5-012399710611 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:9724943b-9961-4d13-97ee-ae275cc7e848 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:d1e56694-8b6a-4c87-9342-b1351717506e phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:e6da9cda-c0fa-4372-a759-14e6eb5a3993 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:07419ca8-0a54-43d4-a188-7cd5ca5d4467 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:4eb0d15f-0b1e-4b52-953c-9dd9f0b9230a phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0010764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:445c09ab-a138-4ee9-acbe-c37c0d3d835d phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:c3a27450-23bd-46f6-9d9e-62ba06380541 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:2f00dccd-cb2b-4086-9454-3565e408b826 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:d2acc904-e831-4685-877b-1f69446d7699 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:eefad8c5-82c4-4de8-a1d6-e887d231f01f phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:476bee5a-815e-4927-b7ef-80ce7a705b90 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0003508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:404c9d6f-b0ad-48c3-997b-69299a69da24 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:cd1960b1-bc27-4a54-90dc-046906f5cf64 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:4a4dd35e-11c1-45ae-b3ae-81fc49e759ea phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5b1a2d4b-53a6-4228-9808-9476a9c89f01 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:dfbada87-2b8a-4bce-ad52-5ddcb033bbd5 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:38e6a9cb-f5f7-4d83-b120-661904a4fb31 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5434fea7-933d-4659-bded-6d9d57008831 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_phenotype HP:0002475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:e865c177-4b5c-4fe6-87cd-e1ea85fecab1 phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_disease OMIM:620641 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:8ab08ad5-2b2e-44b2-a7d8-c437d054cc6c phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:has_gene HGNC:3029 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:ec702077-7870-490c-810b-308ae19962d8 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:2d8ce0e0-e882-48db-9a9e-0d86a71b6d67 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:a6b47c17-72c9-4379-bfca-8fb466e911f8 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:c7741178-031a-49c3-a423-8cfe7924dddd phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5397165a-3967-4504-9721-130d99a03e42 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:61b01ce1-e327-425b-afa6-372fd3da04c7 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:25567df2-5f66-42c3-ad87-e3bb54a98b62 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:b7db8f27-867e-489a-a534-d283b5981f85 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:36e73c87-229a-4e83-af39-255c34c14445 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0010764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5bcd9ec0-de76-4045-ba18-73b034ce3b77 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:ad0662b4-d68f-46be-8d24-6706ca12f12f phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:24da9782-58ad-42a5-aecd-df13945f70df phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:746d83f6-5871-429a-a7d0-caa56a3abe96 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:092766d9-ac17-4ff9-bfc3-92722e525413 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:bcf45f72-339f-482b-b09b-1408ab8a1081 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0003508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:febbb9ef-8c0a-49e4-9b0e-898364da8404 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5334f44f-3f7a-46ac-827f-54b8b28efc5f phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:74a7257c-b985-45ad-a6cb-42825c1b451d phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:3c5c4774-879d-4d1c-bf00-0e2bbc3d3da3 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:cde1674c-e33c-4d1a-bea1-d9f722a100c3 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:2d446a87-35b6-42ef-95ab-fd555dcd5839 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:dd17a4df-d420-4f1a-be4b-5560035cafbc phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_phenotype HP:0002475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:ad4cb0b4-8512-4772-9972-50476e14b46e phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_disease OMIM:620641 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:a8b977b1-b176-4b97-a3cf-99cb890e0a55 phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:has_gene HGNC:3029 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:b82591a0-8a6f-4177-87e9-e61af68449fc phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:6d8effbb-7a2f-4080-b7e3-286639075482 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:08bf41fb-b850-4e20-a2cf-080e642353d0 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:31ec7749-97ba-401f-b04f-145cb46f04b2 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:3a9d60da-1c93-448f-8659-4f5d95037c75 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:4a4d4010-93ba-4944-9b02-b8bbf824ba9d phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:d36e3a17-b746-4408-bfcd-949ab1489dd9 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:90a62cf2-e85d-468f-8a44-dd3e3d361582 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5c257e9e-fd35-4878-a788-716af0b2e665 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:e12a747c-00f2-41f8-ba3e-0552b198d3eb phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:81484b4c-2084-48e4-8641-187b4288b612 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:c5cd2be5-a196-4ab4-a3b4-25aef2d7fbb0 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:c129bf8e-d05b-47a4-8796-50175399852e phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:c463a0d7-3da8-494a-be2b-24d3d165af4c phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0003508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:1c470f76-8108-416f-8ee4-7147804c0428 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:976fad25-47c5-45ba-9964-ab28f50bb933 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:dc6d17be-da83-46aa-b9d7-a87b924a62d8 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:5cefeb59-0615-483c-aa55-edc88dd4d35a phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0002475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:23ed3ebe-2e46-4488-a3ba-a12931de85a3 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0010764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:f3ecfbfe-ab4f-4969-b25a-b3f99299e857 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:80ea27aa-ea9e-477c-8321-b8f764cb9f26 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0010702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:879203d1-39ac-4be0-827a-34f18032be75 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:1a2caa15-80d4-47f5-850c-12cef288a2a9 phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:bbe26b70-f37b-4089-a9e9-aaf7aabfb8fb phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:259df79f-1f87-4ab0-99c1-7f0308054bcb phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:2020aef6-b8c6-4da9-b090-ae4f6b783a6b phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_disease OMIM:620641 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:0f293123-5757-4720-b2ac-c05a36fb847c phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:has_gene HGNC:3029 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:6fedfb2d-8fad-4022-9519-69f5445f27ad phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:6af786a5-c561-4187-8291-1cb5c546dd33 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:0df0cc81-85c1-4193-81f7-a064a8bf8661 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:3dd5932c-c4b9-4960-9fc6-7eaca10f3b87 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:221b905c-7167-447a-841b-1b457280ebd8 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:28cbc1ba-6fe6-4e66-a726-698137d39382 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:fb95e0cd-9f7c-473c-8a0b-d46727145cab phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:7b6af642-5a35-4855-af0a-d244b349b742 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:e50fde98-5c64-4587-864a-71eee62ea188 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0010764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:acd08b0d-d0d4-4f58-9890-729170c1b557 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:517245f9-cd7e-48ea-8cdc-fcb987e72cfc phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:2cc31dd6-6897-4631-908a-94375181ab62 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:4d354469-80ff-4d7b-a902-1e57f70702a4 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0003508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:4f309e6d-e473-4b54-b8d2-8a6e0c61b97c phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:cf2cb6aa-a438-4b17-8d35-db83d0ef0b38 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:f3012e4b-290f-4af0-9cb0-4c908cf77031 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0010702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:675ce9c8-47aa-4633-ba5b-b6d2cc1098ae phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:59f6b483-d0d3-444f-b4b4-88ca711ca456 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:614609cb-d333-4cf0-b5a9-874a7bdd7b81 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37179472 uuid:3ad0d755-34d8-43c6-9388-931a61b9481a phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:14d936f4-9bd8-4723-893f-8cf8523afd76 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:56252222-1468-48a4-947e-159f67fc71fb phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:25b0547e-a995-4659-a092-f4768d96ca3e phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:0f381f28-91de-4d15-ba18-273ae5e6a25c phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:99a9eb3e-678c-4bbd-ae50-992930c4863f phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_phenotype HP:0002475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37179472 uuid:d2b4dc79-8b46-4402-8678-29de15fe35d9 phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_disease OMIM:620641 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:dbdd99ee-f33c-4536-8679-b6176ffee25b phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:has_gene HGNC:3029 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37179472 uuid:81cf8cc2-f5c1-484a-b1a5-e9458041d9e7 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:f3c27d23-b38a-4d46-8fc3-b5fc98dead78 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9c8a784b-58f5-4a57-b258-8ddc1deb27c7 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:94ddec2b-f35e-4d0b-8a74-9408dd5ca7d5 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:553b401d-c5de-4aef-b598-dacc91f4d49d phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7c0d2e7f-3be0-4d9c-a1e0-291af3e61eb2 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:00224b9a-3a51-4bdc-9164-a71350f516c5 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:16981971-9d0e-4760-95b1-8ecb5810df9b phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:35fc7037-dbe4-40a2-93e9-d84373588886 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:545877be-4183-4aee-9341-42c221547946 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9c0cd70f-5df2-42f4-89af-8786abfd98f6 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:25dcb65c-13ae-4fbb-9087-484fb3323339 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:227f5792-44cc-48cf-8dce-46d4f5b350b3 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:afb8dd33-414b-43fb-b720-c697841cd244 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:84f635e4-7023-467a-ba08-a2f9455bfa2e phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:61ad9f3a-b1ca-4156-a741-5dd1bf29097b phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:e1b9d65c-2ef6-4ebc-bfe9-56d61eeba101 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:8cb45dd0-5c4b-4f29-b891-83174628b125 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:565ed64d-fbcb-416a-b342-65988e277afa phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:95a7455d-fa35-4155-8e0c-2f01197c824e phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d614b14e-cd46-45d4-a5d1-db93993ddd2b phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:7b58d4fc-0995-42a9-8722-b697124353bf phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:671d8c62-3ad0-4ab2-924f-aaaaebf84491 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:9ea11b9e-48a3-4b40-add6-2f87a62b0e53 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:475586c4-e355-4a4a-8ff8-763b27861995 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:56c78eb0-bb17-431b-8b76-2cb1e1e1d06a phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:30500477-9848-4ffd-9f5f-ae22fd432409 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2c8fef09-4dd9-4fd6-ac32-bebf3669077f phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:dd79ffc2-75e8-48b4-8e3a-d9a3716121ca phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:7d4dccb8-ade4-4014-8694-ff2a251583d8 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:b5dbd0ef-14be-4619-9682-d07a4009c66b phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:6b46bbfa-eb24-4ed0-bb6b-a46e8b5a96f8 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:fef909f5-5b29-4572-93d9-3a7622296097 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2abbe7fc-bae9-4976-8a84-b5984d30f1dc phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:04224910-0951-4f3e-907b-1c9617fb339a phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d040176b-f66f-4cb1-ad39-80cc21637c67 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:279ff4a1-6ad1-4e43-95b6-23f733bd2796 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:fb40a732-8430-451a-b936-503599e735f7 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d32e80a2-8178-4b51-b914-183714b56bb5 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2e8cb20a-674c-480c-b5b6-700d5bd9f47c phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:5840615f-fdb2-4707-aa15-ba3b76bf5097 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:81d81aab-d8fd-45d2-be58-28941c5eec3f phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2de09c55-81b1-4314-821f-540364ba4dbd phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:9d7ca880-b26f-48a1-a875-e3e99ee04735 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:09bf8044-df65-4303-883a-42dc9ef14c07 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:9247544e-f92e-44e5-b613-85cc9e329e72 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:ea2cbe53-2e40-4d80-8186-ef4ddc078016 phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:c81a82ed-fe05-4227-ac81-89357db46b4d phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:78eb5cce-9ef0-415c-8de5-6a3f5f239f6e phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:19315d8a-a31c-45d5-919b-1a1e90b76140 phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:b3e98b58-7191-47e8-b238-f9958e719631 phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:34390067-605a-46e8-8c97-d0f9ed7d7a82 phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0005450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:9c61eda9-a88e-423e-a201-2fb9dbb5e8ef phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:ca9ded15-b9a1-4cf6-b4a3-86de9ff99dcc phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:aa1bef15-9896-4da2-a4e6-69aa945a2819 phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0009611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:6374e4a0-503e-4342-aabe-e93e2427c161 phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:5b912caa-eb11-4b0e-9c71-6de6b4ff5c9c phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817014 uuid:a2b8fabf-dcbf-4a6d-b3ff-344d0b5e05ec phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817014 uuid:5116d368-4e70-42b1-9779-2b59c2292288 phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817014 uuid:92399339-12b3-47a4-bb8d-50b630d57884 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:4a01b6b0-512b-4283-83c2-5d46d0f6a957 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:62cd79a7-697a-4a05-aee4-e67b06ba1a24 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:92bb60ea-c4f7-4c00-ba28-792f5ed9ad6f phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:d843083b-c82a-4520-9d48-7356cf54ae04 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:c6bd9cb2-82bd-42ba-8f24-80de6ac4ec5b phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:01081ccd-5468-4b61-b2a3-b69a769017a5 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:cb7447e3-1b7c-4bd0-8742-4c637a2ef9c8 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:d51ba821-d0eb-47a1-87dd-520d223df426 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:e7efa94f-baf7-4b42-9c22-9761fcc24039 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:b9c6ee05-7966-41c9-b9b0-27a9fa29a058 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:7ff60548-d910-4fb4-a74f-de5ac3dd6c94 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:b2f73e8d-7b51-4807-b422-c3c6db55da95 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:52e6ea37-0a30-4e70-b0ed-1cbf35106f1e phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0005450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:5607d3e6-b87d-4829-a0d3-7331b8ddc3cb phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:d665dd8d-3ea6-4e3d-a099-fc6da468abf4 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:37061d05-5257-416f-a7d4-f2569e78b99d phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:307ee911-686f-490d-ae00-8ef31275312a phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:3c114693-4a40-4a1a-8130-16ab4e232539 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:83b85a71-ab9e-433d-8cb5-48a296a571d7 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:83a8d1bf-2274-4d8a-9031-26f2ef1e1154 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:82cd7702-2954-4878-a578-a0dbb493beb1 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:9bc60a3d-1c90-46ba-b24c-5e5858e18aec phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:3212a2e0-2bb7-45a7-81b8-48bf2374e869 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:7af1b96f-03ba-41bd-a5c9-90240364a1b1 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26924530 uuid:e543ca38-e923-4667-ac72-1440e2a0d5c5 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26924530 uuid:943f13df-dcb4-4a30-bb12-cb6da72823df phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26924530 uuid:a4b1894e-0974-4775-a15d-7ac545133b80 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_phenotype HP:0009611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26924530 uuid:7c98c660-83ee-450d-8514-cd34d7537b01 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26924530 uuid:7c9f06ab-e78c-43c9-b01a-015384968d46 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26924530 uuid:a5c95234-c1d9-4d15-8eeb-b7b04f3818fb phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:eb39ef6e-8022-4e76-8a56-f9bb6b406ac8 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:f85b1d92-0928-4d2a-93d4-b7ecd84b8dab phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:c113214d-1e01-4774-9270-e5b060fb14c0 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0005450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:52e35668-67ff-411e-8103-d8ea141fcfad phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:950d3ef2-12d6-4079-a03a-ad73ccbf0ce2 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:c6fd4cd6-7ae2-44d7-b53a-aed2aa2945c7 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0009611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:43761c59-8285-4fd2-8415-3b318c56d60b phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:8b0f0ea5-b52d-4dc1-bb77-a2158c898c1c phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817014 uuid:f560ff01-ff3f-4511-8b0f-ce94c1b08ce8 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817014 uuid:afeffb8f-09ca-4f45-bc26-f62a8b82cd83 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817014 uuid:f1c90a75-9337-491a-8bbe-404513e3c0b6 phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817014 uuid:e4a77ab1-aa2c-4d63-ba9c-65523726876e phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:505ebca0-33d3-4ab6-9ef4-b2a60c86c35f phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:a3910e28-39c5-4f2e-b270-4fe9050b0aa4 phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0005450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:0631c788-296d-412b-8c54-58dc6e38c444 phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:6f86291b-2970-4eea-b66d-c1b12807ffbb phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:e34ed97a-3087-4f2c-8e48-27dc95a5a64b phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817014 uuid:e5ff93f2-3bf7-43d2-960b-656462a206f6 phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817014 uuid:bb003c31-12ad-4d87-a183-2dd3d3d3177b phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817014 uuid:9b30e832-fc48-4510-bdf4-8626bac00a28 phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817014 uuid:b86a9df8-f942-4aa5-a3c2-62cf2dbab99f phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817014 uuid:09b91c84-be79-4b43-8ba1-64553d86bf13 phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817014 uuid:feac0837-9896-4f23-841c-df63e186aadf phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:d6fff0e3-f8d6-4ed3-83e9-0b3aa0430ad9 phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:a2bd2373-1861-49ce-868f-33a325c150ca phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:a98fd6be-496f-4262-9a1a-4044249fc0eb phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:3ba2e8ee-5f14-48c0-a2ac-2fb68dfe70fa phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:bee3613f-31cf-42c8-959f-1dcab713758f phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:6a13bbbf-f356-4b52-8f5a-5a1b688abcc3 phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0003093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:32fb8d41-5aee-4e7a-a947-831ecb88e0fc phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:8e2c1251-4a56-45c4-a1fe-24adb4d0cfea phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:0fd37dc3-9f5b-44b2-9361-6b7d8b993602 phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:a45a4ed3-3bde-4365-ab8d-e2a458c705b2 phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35137569 uuid:61519d1d-0e36-4135-8a39-503880f30048 phenopacket.store:DVL1.PMID_35137569_proband biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35137569 uuid:2c1624ac-77d6-42c7-bb46-7bc4e8170e63 phenopacket.store:DVL1.PMID_35137569_proband biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35137569 uuid:caa5d4fa-961d-4cdc-8f90-d52c3461718f phenopacket.store:DVL1.PMID_35137569_proband biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35137569 uuid:35d4eb5b-0d4b-4636-991d-1b3519409073 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4731aaeb-aa32-4846-a2ff-5f46655c56c4 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7862a5b3-3519-460d-b1cf-e2c1fd26d91d phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:bc3fc013-4a80-4bef-9192-0603f1458870 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d9556fd0-9111-4bdb-ae7e-a1cf0d498e2b phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:bb737346-8000-47a7-99e9-f934024951b7 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:6d2c46a6-86e7-49f6-8b26-288544000a71 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d7755f99-9324-4238-ba64-e4a676cda75e phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ade8c90d-5844-4890-ab7d-c8e00b992078 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2769e1b5-54c2-4376-a8b1-cddc8b72be62 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2ba8e005-df62-41eb-abae-12d2160eb4f4 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:abef6578-4e7d-41d8-87df-72c11057bf07 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:5905bda3-08f1-46c6-9411-12798aa908a7 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:e8cf0e1b-2236-47d3-8ad4-ea4b02159f51 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:8b51cd40-5a6d-445e-a9bd-8f4aa1eef299 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ad72d4f3-b989-4b52-bebe-9a1d5e7a0a1d phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7aab0a6d-a517-4315-af19-e24440ac6650 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:5cad843f-716d-4c5a-b0eb-6b9f03bfe9e5 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:24c4ae12-aaa4-453b-8a42-9758e674ee7e phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:1907ee1b-9fef-438e-a32a-10bba9eb381b phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2518622d-6c03-4785-883f-572388a9d903 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:39d7a3a9-212f-4ef6-80d1-f56bccc2041e phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a9e17b08-522a-4efc-92ab-5bf34328e039 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:3cbee1ce-a4d9-4060-ba99-ee2ca3f32348 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:533de858-e265-46a9-8498-ef1f115a358b phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1fc71590-6681-4fd2-a09c-dfacc8bc7ce1 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:5eacc3bb-c904-41e8-9622-4af4bb8769dc phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:d7c6e123-0527-48b8-a557-85772a035940 phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:1501c367-26d9-4b52-a0b6-5a4d19f387d9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:f4756df6-caa4-4fd6-af06-6cb2f311e637 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:73272023-756d-408f-8632-51da3d502258 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:af503e94-a73f-4550-b6c3-949f492b569f phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:9015827d-64f2-463c-9971-b5758cb87e70 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:8664c65a-c1c6-4b85-b9f9-d01cb540b279 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:762a9202-da0d-499d-9b24-b3c53f75c2ca phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:8fabff95-1cf8-4f6c-9f80-67b7ff60ecd6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:c502aeba-c177-4ef2-9a6b-26ce1f93fd1e phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:35b272bd-02fd-4ee4-b375-44377f8ed1f6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:69deec23-9233-4c89-a81e-3a6f6cef347e phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:603a8690-6325-4a00-92a0-154b14b1dd5c phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:521b7b6a-2181-45ed-b4a0-321d2af02ec6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:2b88ec35-02a1-4109-957f-b2075db7ad22 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:3d47fedf-da42-4ac4-ab6c-04104a766641 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:86d2e019-d5f0-4462-890e-d13303c54aea phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:3068993a-32d1-4605-80ca-03708579d75b phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:0bdd4914-a9d9-44fe-8693-835d275dda57 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:1493a41b-551b-42e7-a546-f2244ed0ccbf phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:fb878c0f-c2e2-428f-b457-e77a43ff2694 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:934a9dba-f6c1-4a78-8d85-0f8225a5b4c6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:f992649a-6db6-408b-a4c7-46300e8f04c0 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:9a52e7d2-2d62-4902-bdbc-c3e8a2566b62 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:9381b532-22ea-4efe-941d-55b38af229a9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:c81bb78f-1dd2-4e2e-8e3b-66432fc26d0a phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:530cb7ff-009a-45e4-8ffb-fafcde71c351 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:dc616779-93d2-4232-a7f2-6cb556677cc8 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:8acb5d6d-4576-498b-9352-eb5d4e3c1e5d phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:7ee3f91f-cd60-41bf-880a-e2d0ebd819dc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:75823516-ef70-4030-915c-36c8f0726385 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:d848c3d1-3a86-4e9f-a503-dce63debe305 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:5d5fcd82-b0cc-4fc9-bd87-fb5e27caef40 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:9a9ef954-4f12-4066-a60e-7a366a875c76 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:bc1c9961-4bf6-45a4-a4ee-e343fd5984cc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:a3b040a3-ac03-4e49-b838-d7dfe5e982ab phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:2a98f0c2-1626-424d-8fe0-8f93bff2dc31 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:8125f004-48eb-42cc-bd34-df328befc0e0 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:8a49fbfc-9e82-4b3d-89e6-f008ad98cf5d phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:f0ee8b0b-c7e1-4e98-bc96-c51c13cc4de9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:c16ebecd-ecb8-4fbf-81fb-26987892d1d6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:dc0f72ae-4e34-401a-a463-84d43399ff62 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:2a9d4324-7555-4d45-9b5b-f124de6421fc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047859 uuid:9282076b-0515-4ce2-a00b-cda4ac09ab15 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047859 uuid:5c449ca8-85d1-4206-8fd2-66825005e6e9 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:94cfc516-7bb4-444f-8391-b9bb67ddc00e phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:47dc6ff4-7d28-40c2-b9c5-728ca8ae89bf phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:056f9ecb-a766-4a82-9023-07f08f07c958 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:df42a761-d324-4ff4-8329-ad9cd8990eb0 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:891fc670-b40a-4d4c-89af-eb27fd550492 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4b39704b-3e66-47e3-9106-3eba02a3380d phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c02d3805-331c-4f84-a75d-b8773089d788 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c6d9c1e0-1c23-49ec-9199-68ccedaffa92 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ada03525-51cb-4ca7-966c-1bc4ab1d3bfd phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:822f74d4-85ab-4945-967b-cc14b4e84562 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:fb3a1f4f-f2a1-4457-ad09-08fecbef5683 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:07c2b7e1-9ec1-47c5-b78e-f30f97655821 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9790e5f9-c8fe-4523-93f1-9eca8093bcce phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:b55fbc96-b65d-4e2b-92ae-4cc4187c182d phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:bf37b2f5-cdd3-4e55-b5c7-87e06e28bd6c phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:8cabade1-e1fb-4997-8395-c9c5fd33796d phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a53a9308-8ab4-42f7-9561-58e634dc9a69 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:b108b91e-ac5d-4f7e-804f-0a30f265162d phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:553b281b-af56-4a43-89ea-5f3a1928b66f phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:174ba8df-fbb4-48b5-88e7-16626fab43ca phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:3f5f27b5-77bd-479f-8aa5-9765e1d06713 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:11b1b600-1a0d-44ec-b77d-23ac5caa9db1 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:18847cae-418d-4104-b8a7-f6925f63bbc8 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:103d34b2-1f4b-4bde-aa0e-3663fca13e62 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2d4abf4b-cd38-4bb4-9caa-f8c11aabd278 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:cc29504a-fe90-4d5f-9868-72b794a005a2 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:45b9469c-778a-47f5-994c-8abac81aa575 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:6e436c68-00e8-4b82-a105-c1a7f5fdaf29 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1b933d76-6c0d-413a-b9e7-2a5de211dd51 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:dfb99106-8b07-4c6a-ae77-038a13763352 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1ffdffc0-8e95-4575-9d6d-69cda1726b68 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:b6e5dad5-6935-4068-b6b3-6f8fc1560e30 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:05ba41a3-67b7-4b39-b81c-fea00bfc770e phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:00b313f6-c926-4827-acda-11a9d96ae8cb phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:4b76a611-ced7-48af-98d1-9ed408048ccd phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:5c10a3f2-31ee-4ebc-b833-4013b2343f24 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:3ece4d62-83cb-41b2-9280-6aebc6828969 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:af1c98e4-bd92-469f-bdd7-0303dc6104a4 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:852e8f6c-eef1-4806-9c34-53ad047adea0 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:aa5739ee-7172-456c-b27f-61bec680ff2b phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:f915a312-939d-463c-873b-f3796b220a8a phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:cad458b1-691e-47cd-8380-d7f5b8a1ea6e phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:0a71e1d4-37ee-47c8-a8ce-446d8a81154a phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1a454294-2cbc-45ad-b8fb-48fc883ffd46 phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:55a0380c-aa13-4b12-a0e2-5799a9b6cc5e phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:5c23cffc-643e-4c1d-99f2-28c68177ce2d phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:79fe96f8-8f7a-4e21-b7c8-f7da9f196399 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:91861020-78f3-4422-8f27-fcfb109bd80e phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:c0b641dd-4d61-45f5-b903-bce8a9895ccc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:a32f0c16-baec-4391-8d22-51c20a16ae32 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:07cadacd-f47d-441a-b25c-1794ea32c63d phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:985006b5-5573-495a-a3e3-dbcab9e1d609 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:b2418231-d353-4a43-ac55-342fe18813fc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:49c0da6c-e0ae-4187-85a5-f725406115e2 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:efc2653a-c165-4169-b410-440c33d79b2f phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:685989c4-93c1-4b5f-a185-dcea694c4a6e phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:f6250854-4efc-4cd4-aeb6-5e9eb7d5d602 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:0044cf35-8d8a-441a-b394-feef51049d34 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:249f579e-5380-44cf-a3f7-2715d9edaea4 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:679cd53d-13ed-476e-927b-17e78a2015c2 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:ff02b061-8df6-4cac-b311-0a7ebd875460 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:757b777e-eb32-4383-bb65-b70062d9004d phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:f9fef8ee-0ab5-49d3-9076-63e547b1b2cc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:deb0a4e1-1ad3-4569-a2ad-4af26f02e774 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:9f188ba8-62d0-4e70-b8e0-b52d79ef865b phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:40185b96-bacb-4b29-8b0e-61613eb3bae0 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:f24d0a07-1372-4430-8388-34c52ca9c083 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:48501a82-2f38-47c9-91b3-dc2d83992d94 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:15b65b61-2822-47eb-86cc-9316010fbe47 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:9079d5ab-7d4a-408f-af3c-e562df44cbfb phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:db7be419-b409-4b31-a4d2-05b9740299ac phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:77ff0b6c-0705-4202-8eb5-2bab9fa12195 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:19a634cf-baa9-4b11-b199-be6a37c396cb phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:192a55d4-d221-4c0f-ba82-96136c41c4e7 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:8344671b-001f-4b65-a208-7498c0b5bc02 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:7e231744-7e38-4fcd-ad83-6aad0e201c3b phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:347a6b7c-c3b1-453d-813c-9f0fc22e2b4c phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:e88744e9-914f-4c5e-8213-521c12df7e00 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:c7d594f8-0e5d-41c7-a030-fd2ee0b160ea phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:e039928c-9cb0-46c6-83ac-20b014450052 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:69007207-dd4c-452b-a54e-551f66676dbc phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:fd2e735e-d992-4c63-b04d-d6a35d661782 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:4bb613b4-4c9f-421e-9909-c1c8f4382b47 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:5403f119-531c-47a0-8061-9cdb3ecfbea9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:5e676253-ead1-4440-b508-1cac484ec459 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047859 uuid:4fe72f41-d18c-4d76-aa9e-42287fe10102 phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047859 uuid:f9b83716-c556-4e08-a5a5-b7a3a77549c4 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:f095c294-fb1b-42b6-b179-5d2f43ddf1c8 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:42825f3a-3c8a-4df2-8886-d576409a2c3b phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a654f71e-d285-4795-92f1-5bba5bef0d3e phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:85befabd-87f6-4ad2-b71b-a847874f9149 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:114412e2-ec59-4699-a819-b333e3445670 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:10969520-5aef-4aa5-ad32-09bb982496df phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:461b7109-2484-4db6-a210-d198b78a4dca phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:1c8f59f0-f128-42b5-9334-4b19050c917d phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:33186475-e623-4772-8423-ef511ead3368 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:69238679-131e-4e94-b591-8ad28186ed2f phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4b657dc2-de6f-447c-9b1f-52750c35280e phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:032dae7b-95b5-4093-b617-d94332d3c974 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c6df2493-f40e-4f1a-bd32-83695012788c phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ca9c9d08-479a-4a92-92c3-7916ff6463c3 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c600ba46-ed96-4188-8e1c-5a7659aca3ee phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d75a9220-5f2a-4812-b166-36edaa844706 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:279bde30-271b-4713-935c-021ad563e5e4 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c970ee1a-f56c-4196-abb0-2972098e9400 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:b5e6d677-ce5e-4c5a-9205-6ed7128632e2 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:68aaa73f-a200-48fc-b2c1-5015e2cc3679 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:798d8f4b-eb21-4b08-a08d-00be6a7a8063 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7904fc59-cf69-4747-a8fc-269f4915e6a0 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:e0c8d3fb-3abf-4632-9b57-e1b9256e52e8 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ca68601f-615d-4e9b-bb68-523ab194e5b9 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:77a2b8b9-0573-4496-bad9-d984ca78b465 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:71282794-3f08-43d1-ba85-e4b89f652786 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:43ea7639-e4d5-4839-bf8a-d7dd57ad9e9e phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:bf84c19c-ff07-4739-a4dc-076ded97c06c phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a50fa349-4f36-4769-af59-c472de649c48 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ca2a468d-7862-4e1b-9b55-c6f9db8b391f phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:f7433692-ed69-476b-8858-3792b64915ec phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:4a3b9635-5b29-4b7f-9c39-f6d5c641bd4d phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:ac338492-34af-4dd1-989b-a5942d1fb007 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:b730ae75-f771-4356-95f0-e3a739a5ab0c phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:c03cd70e-cb4a-4f1d-a880-7e500da05b92 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:c31469c6-01e2-4939-9a44-9c7f1ca7e140 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:3ef2fa23-d26a-46ef-91c6-4b5cf87beaf0 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:4ca2ee34-ca9b-4294-9213-a694b208c164 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:89901062-e562-45f8-8f22-97060d89f4f0 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d1807ade-a0d2-4b72-a45e-e9abc833f18c phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:35f9b0a5-3616-4f02-8ab2-a4fa71d72352 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:6a6576f0-eda1-4617-b920-0b63ac89e05e phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:64789fba-3177-410c-a8b5-978a1f9b5136 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4fb22470-4634-4f1b-87d7-b02bd0ebfdaa phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:8242fd14-db56-4733-9e7f-82d642182aaa phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a6b2338b-ec59-4130-bced-50ad58ae44e7 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:439740be-294e-4c39-93ed-d052a065d36e phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:e2c7aac0-4d4c-4a98-9966-7ae65eafcd08 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:73e5f0a1-4330-4ad3-9a69-5e81d65194d1 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:43d47b7e-b4f7-42ff-bf31-d3d05bebebf5 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:522b4bc5-cb88-41a4-a34e-bbacc6c2b246 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:5782e0d9-eedd-47c9-9c40-1bfbafea8f9a phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7473267e-cea9-4223-bdf5-96919fef0ebc phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:46d1f8ea-4619-4043-89c5-b0d27b1d87ef phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4c8689d7-08cb-4a8e-b39e-5a909b4e10b6 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9179b0fd-5ab7-481d-a356-262df3babdc6 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:48abff14-cb24-4117-a9a4-1742b5f70b38 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d5e76a43-3a26-49f3-b354-de616139f1c4 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c6459285-84b8-410d-bfe4-492f9a9487e7 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c20ff781-95eb-4c0f-8766-0439e3f4319f phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:85baa686-a9a6-469e-9731-5f1032912c81 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:3324b6fb-a71a-47f5-8cc3-3cf97a593984 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:01cc8eae-c472-41f7-9aed-a295cc204126 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:83f66fc7-a1ef-446a-9966-01f13dab7bee phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:81993d98-8ba3-49ec-b29c-e05351f4366d phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:5c6af1c0-437c-46da-9d6b-9151f910943c phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:374ed095-612e-4762-b779-21864c7c1591 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:bbc950d4-6934-4183-a5bf-5f1160b2476a phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:98b9046c-7f2a-4060-a16e-62f5980f6dd2 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:6ba2a090-7b8d-479c-bf38-c381ea1a09d6 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:f2ec448e-f074-4bb7-9480-85ce1a1a8255 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:4fec20ff-c694-4f52-b7bc-263633bd9384 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:eb9c6fc2-4ddc-4ae7-93d9-c174f4c52961 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:a4009c43-ac82-4156-aa4f-5374fa67d4b7 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:86d3a8ed-8a5d-4c4d-aa9a-f2ee071aae15 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1b5c2acb-bfa4-4b94-84f8-bffb7878f17b phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:196c351b-f481-47dd-b779-7921fa2a4147 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:584eb775-37af-4a8b-afeb-abd80b9f1d1f phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:f575c160-1305-400f-8749-403086c25732 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:8af4c90a-2161-4bd1-b612-ebd88d7a4c89 phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:675ea9fb-e9ae-4712-9800-5aac5edd111b phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:22ce2157-0ef1-4e55-b874-b3a03ce4eba9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:2961a1bf-bf54-4e11-a27d-f7c6d5fa4c77 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:d3c3c3fa-9fc9-423b-92db-fe081b03ecd3 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:41f25b86-0edf-4561-8c89-6d5670d4638b phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:caf96d6d-7fb7-47bb-9d85-b4009560bb92 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:40bfccac-b0ec-47fd-a1fe-c67b399f5d82 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:2aefc692-7b7b-4e3f-aa93-19ed23ef7800 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:2a113911-511c-4da7-921a-5d61f3e3b476 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:159c9c22-2e7b-44cf-919b-10535fef5d42 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:e66c5afa-72e4-42dd-a878-52195e1b1ad6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:ef01b09c-19ac-4a2c-8ff6-e4a5cd50f3e9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:4625a347-2e47-42bc-be40-eaad5c4924d6 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:04b13d57-0391-4f92-a169-929b0249c0e9 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:e8714caa-a343-4214-b9f1-91beca8dcaef phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:40e632ea-eaf6-46c0-b5cc-6fa416a2c977 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:e0e86fcb-3ad6-400d-aa99-900193820668 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:1bc79428-4a8d-4796-bbed-594b773f260d phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:366eec26-2c12-4845-94e6-8846fce1f5ea phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:e7924341-4c3f-4fa7-9239-02367796321f phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:82096afd-732e-4b3b-92b3-d6b1c9f9f74a phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:dbd55b23-c146-40be-9f2e-537f58751fd2 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:5de44465-ecd6-4e6d-a981-36558cd2ef47 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35047859 uuid:25746ee4-a8af-489f-b159-2ebe3eb22f96 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:64d00519-7161-46f8-8779-ca378d5dd30e phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:2508e6e4-4863-4578-8313-dfd68d3a2262 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:8076b283-3a77-41fa-85e2-04fc1ddc9859 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:b8f20d8a-e876-4aa0-8e34-7957d21c752c phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:f31ca114-e586-4db2-9f4e-a7bd3f94005c phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:b2d0d65d-b398-46a5-b3cf-51cc3f9cc36f phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:6834f32c-3868-4597-8f33-896f65c51b7d phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:ca651594-0bf4-4ba4-9df8-c502589353ad phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:6ed23583-af5e-43c8-847d-07a69ce1cb58 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:2cd7519b-58f9-48db-a526-78b37bc0331f phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:89ceb91a-f0b1-4480-9012-d69a63adb249 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:5df75ce0-8017-4d44-b28c-95d7dc9e1d1d phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:c208dd54-4cb8-4cd4-837b-83698c51a07a phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:8b9803a5-b21a-4583-af73-068c8e0a8c0b phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:13d39f3a-77d2-41f6-aa86-04f96f0e0e8b phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35047859 uuid:06e15d32-7483-4745-a682-52460fcfce74 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35047859 uuid:7ca25e1d-f78a-4070-836e-8bbd8cbf5085 phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35047859 uuid:4754b766-531c-4627-823e-19c5523f4c07 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:5185c2af-0321-4c27-b3d5-c72fc9593757 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:41b37088-e15a-4b69-8a3f-765b226879cc phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d5aa3dbc-c17e-44f3-af17-449f49b9778b phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:db2917b2-4d37-499d-8a5b-265e67cf7b32 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4fe9e2b0-be16-4792-9d41-1ccc7ce4fafe phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d01d79c8-603e-4d33-a849-87d1679b475c phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4e397f68-2802-461b-a05f-ba3236917081 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2eb12928-fdec-4eaf-817f-0dd54445d332 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7aab5aaa-6187-40d7-b87b-a925a570d532 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:b76b9a9b-8241-49d4-b397-72e1bb2ab796 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:be5ee2df-b2e7-465b-af5a-5e5b8e870b55 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c8d269ca-167a-42e6-9084-a7aa2e32dc23 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:e23d2ddf-5a68-42fb-b1c7-ebb9cb24784f phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9cb7e176-fbc4-403f-af07-990f58109f85 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2b2c9d07-ad63-48b8-9635-4bd41c92b481 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:0a995e94-2768-47d5-8253-65d6c5a503f9 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:29757059-ed93-41ed-be7c-71572b1ac376 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4cd5f28b-14c9-4a71-b643-e3bd83042c7d phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:3ebc4f23-ec0c-471b-970a-cb76806216ef phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9d63e800-8b46-4c80-bd3a-f56a13d3e7e3 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:35c258e7-647b-43a1-b80b-677667f9c244 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a5a8e5b2-0169-4972-a509-79aebcc53bff phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7759c305-f66c-45fd-bb28-db398bafe8ee phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:035a001b-8dda-4f46-adbe-f047f355df5f phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:36651474-19e6-40ab-9373-9fa8e6f6efeb phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d8ccd2b3-983e-4743-8a50-1de24963d8eb phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:213d1d74-8f05-4f91-ad93-024baf88caae phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:7cb09175-1aa9-4753-bb02-d455ab1b18e9 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d610127a-bbcc-4683-84bb-94527b1f3417 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d35f1aaa-5be3-40ce-a9b2-b1fcbddc2b18 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:88e9fcf0-d27a-430a-ab7b-7101730f6c02 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1a6ba97e-e8d9-4709-8bba-bf0e36def16e phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:8d5bb14f-bb44-4798-980d-251e94c328a4 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:9ae86f97-dddb-4e6d-bdb7-601d23b62637 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:9904d3f7-abe2-46ef-87cc-3c25fe9d8176 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:c9a2873b-2fa9-46b4-852e-b124174d6a99 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:81e28223-c658-41b3-9e2c-6a4a8f2a2750 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:9fdda1c5-695c-4ade-93f0-61525e2f78c5 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:941c752b-9bdd-4e00-90c1-0c92b9d6269f phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:8db0353d-2e9f-4b22-b520-f76b66cb7b48 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:19e9894a-7051-466c-a037-1ba2a21033b1 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:994394aa-f7b5-4616-9abd-f880a361f889 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:cc194113-a890-463f-ac7e-7ad376d87912 phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:a0ff76e4-bcfe-463a-a690-ee34259ac9ac phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:1a37e038-48ee-479c-bccb-3c481299da17 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:de94f93e-957e-4c4c-9c83-9139b33bbf34 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4dae3a9e-f502-480e-826c-54ba90599f87 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:97492c55-f87f-40da-9894-2854ce521cd9 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:5fe60b3f-ef9b-41e6-bbff-dcac48a898c8 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a8a35854-ca5c-43da-b05e-6f77e533ec7b phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:547f7345-f482-4188-8ff0-7f6ab5300be5 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:afd7a598-e688-45db-9296-ae8503b6cda6 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a9d2ce82-1815-4afa-baff-d6af2553ccff phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2c19592d-ad89-4191-b517-7d3a2a105c78 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c149e93c-e7b1-4b3e-9a8e-b73f85315f28 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9cb6e352-a7e0-41bf-a6f8-61eae5400f65 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ec6db36b-745b-4123-b2ad-9e760e1e13a5 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:6f0e45c9-c9a7-44ef-8899-dd9591d86d89 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:65c1f32c-5897-4387-8453-2aba5aa85aca phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:55846d7b-92c5-464b-b415-be8482de1123 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7453662f-a04a-4da9-bd0a-e8de5e46390f phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:87ff761b-ac53-48f2-9bc7-da914d6cbfb1 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:fa240eac-82e7-44ad-bf95-400f53b0b781 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:e3ef5756-d5b6-4ecb-b33c-5708f173722c phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:96c13c9c-3f27-413c-a385-d4c65ff17049 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:08e2cd75-bd7f-47bd-aaf8-071213f106a7 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:b845490b-9b69-4ca9-a345-ff7a91b2820e phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:bef4c82c-431e-4681-b2f1-4d0c4e254d6c phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:f92b0adc-a380-4b79-89ab-d44af1ee5a1d phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:6d109091-1f8f-4f12-852b-dbb5b297f2e7 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9d5077ee-9a24-4359-a617-c0597fb0cb39 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:2ea0903b-6ce9-44f3-a308-1e76732674fb phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:a994204f-b674-4fdc-aa00-ca42cec7a9f5 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:816227a5-420e-423e-9a52-012f535789cd phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:56f46921-9d0c-49ae-8eeb-661db17e9294 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:60da9f85-ab4b-4129-8758-4555ba8f75da phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:09a96335-4193-4360-b305-bdf00d623621 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:d6b0ccbc-d472-4da6-b045-7ebf77f16523 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:aadbbc55-47d1-47af-880a-9a4b35ee87d7 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:293405c3-fad1-466a-aaa8-40d5799f7a57 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:697779db-ff33-41af-a6af-f964269b9d32 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:0ac33891-e826-4109-abd5-680ec75ea77a phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:7116d391-2063-4f26-bc8e-72a65bb9f192 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:56ce65d7-dff5-4a07-886e-b2ef32d7ee33 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:098ad0ca-4800-429e-81da-160349339af8 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:ab9a6ace-5208-4a34-a6e8-4949dad5d5b1 phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:8b1aa509-a560-4897-b00f-5f86375d1ae3 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:10cc8e52-cd3f-4aec-afe3-c6435cd094ac phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:f99b0f66-8801-4bb1-8665-9ab94e67e434 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:d8fef08a-de2e-4203-b219-bd55654b6a8c phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:ac6c2dd6-94a7-4859-b2e1-049ac72b82a4 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:33a21c80-541b-4be5-9bb0-8a6470bbf6eb phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:0ef35c50-c92b-44a3-b73d-fd9a6027bfce phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:440b1f67-2ddf-463b-a9df-a836e00959f3 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:9e7afe0b-8060-458b-bf5e-1a2ebdddd02e phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:255ea8c6-926b-4d40-8359-4798ef982952 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:1f0b8979-2075-4507-870a-4f44743ed270 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:06a1e1a3-c604-4fde-ab1f-9b6767e75339 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:c8cae3e5-a734-438d-92ed-1f093aa668b7 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:bcda4645-6bb3-4a22-b348-8e6166f597f9 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:33e91567-d5c8-480a-a519-7d7f73531498 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:4fd75fef-78da-4007-91f9-7a7f6a9fdb89 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:160942a8-c180-4e89-b8bd-1e8aa3257ff0 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:7359e8b8-08f3-4317-be7a-9d882b823beb phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:59ce5548-5672-415b-b50f-bb32a4a5b638 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25817016 uuid:3f75d533-d0a4-4375-9b8f-0296621560aa phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:ea5678b9-1f17-471d-a0cf-9b9b154c3116 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:81c827e1-49c1-4ece-9cda-e7d6702c3bdb phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0010292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:806f86b2-2579-4755-967f-4e897f5cf90c phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:30f0ffd6-ed71-4373-af02-ae09b5a2fd8c phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:89895495-f2d5-4d6c-9445-6b5492b9f1df phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:bb9fba3a-18f0-4f99-aaf4-1d004ec3ad0b phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:cb5bd812-b4c5-42a4-99d5-9e7bd14520af phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:5cb36457-c027-4581-b2e8-ac672580e74c phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:effeed82-c832-4b57-a90e-858dcddefa78 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:ce5253f6-5c6b-42db-8946-f98b6ae5762e phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:397ea58e-3f67-4234-b6f2-b778ec96cebf phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:eb66a945-f1db-4d91-a343-0b1ef0874dc1 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:427421ca-63c1-49ad-88ae-536cd441a18c phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:266c3c79-21a0-40d5-9dac-79e7a092d53f phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:33fe9f9b-88dc-4d19-acf5-0b14050b2c2d phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:09d0c5f6-ecb7-4dbf-af18-0233aaa98a20 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:fa0dd425-02b7-4a17-bb3d-dbe289d32f4e phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:95fc69c2-f995-4519-8cb3-eefc413a0a8e phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2ae19e38-9ca7-4d3a-9664-cef5391d2ac7 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:1a432b8e-1c06-4332-a77e-e577621aa2ad phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2ac9bc60-3a6d-491e-bc3e-86b54a2cfb38 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:2b59ed3a-49ff-4d6f-adac-1f7a8ec8b080 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:72c3559f-c118-48d1-8db0-1191bcd5936f phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:3b729bb2-f6b2-4870-b73e-2997ff9bbb21 phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:19192970-4d91-42db-a1df-a6303dfc700c phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_phenotype HP:0011994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25817016 uuid:e6daa603-412b-4d2e-a170-d7e598d74c6d phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_disease OMIM:616331 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:e2bbc0e6-ff25-4b6e-abd0-989ab27f45da phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:has_gene HGNC:3084 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25817016 uuid:21f09cfb-1430-4597-bd20-fa6f9f7eb1af phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:f0cb4a46-650f-4b72-84b0-8337ae79712b phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0010743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:9790701d-a53a-4420-98c2-3bd5d159a427 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:181688a0-67f5-40b3-8cd1-52efee19c948 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0001498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:b0a27ea0-3f9f-42e7-8037-9fcbb5d0e90d phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:30094cd4-a36d-43d6-af7c-c17b6c382039 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0003183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:789f0023-9a11-431f-b015-1df53b7034ec phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:7f1bb8f5-99fd-41c7-9be3-7974a9f6ff61 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:e17a684b-8d4d-43a7-8ec1-34c9fce60476 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:6e926299-6b5a-4e43-bcca-ec4080780bad phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:da1c3d8d-47d9-4587-b91c-e87d2e5be9d6 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:c31cb65c-0d6c-4bee-8faf-2a81bdbff38b phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:9a0de658-8b0a-4b9d-bf39-a56825ba3ff4 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:575bd59e-26de-4a74-b937-7711edbf76bd phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:6731d875-6817-43e3-a355-fbda92327065 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:58140df9-9a2b-4ea1-9d35-06036cf5363b phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:673a08f9-113b-4712-8f05-4430141a3fbd phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0003311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:fd07c9c7-705b-4946-90c0-5c0a7e434b17 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24300288 uuid:5ee94db0-4bda-424c-8324-de5d84fc23ad phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:bb6ac44d-46c2-4c77-b7b4-456ca4e12ffe phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:7e36adff-47bd-45ef-82d1-33c60bf55e9c phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:7f87d27e-672d-45de-afc9-66fb3f57c3a1 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0034414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:c1062212-b643-4767-bd37-2420c97b0bf0 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:3e0580b6-ebf9-4aa8-961c-e0764c962a0c phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:6d1e51c8-7766-4586-9331-8652f0411d86 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0003180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:da18e54b-3657-45dc-98cc-7386f83dd1c5 phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:95060e2f-1a6e-415f-84ae-ef048e151f2d phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_disease OMIM:223800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24300288 uuid:73eb4cfc-34f9-4542-a2b7-75f77bb38ead phenopacket.store:DYM.PMID_24300288_second_patient biolink:has_gene HGNC:21317 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24300288 uuid:7b33c46a-8228-49e6-b953-241ebd8b41c7 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0004568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:c08a018d-ab3b-4b69-a4ab-10f9d3b24dcf phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0010743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:c7c9987a-78dd-42e8-b21c-907b47cb816a phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:1f413871-2902-4431-8e64-7802dfa2c36d phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0001498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:ca1e1619-9795-44fd-88b5-581f30d315ba phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:477a47a3-3d81-41ca-b9ad-500e5210c4f3 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:901647f3-8751-41e8-9a12-c76ba4ede227 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:73dd79f1-c269-4fe4-b19e-dbe6578370ff phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0003183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:4ae1ace9-e4af-4f98-b0e8-23c00259436b phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:31d317a4-65f2-4503-9ddc-406c2eca3ecf phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:d0033790-06bd-4ff0-ba3a-5a237104d7a8 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:7cf9ddba-cf08-4f74-bc13-f2264cc8074f phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:be3135c2-1200-40b1-8ce8-1c09282cd4dd phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:e8f6780a-3eac-45db-b2f9-335723ab2010 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:428677ac-44f6-437c-ac5b-7dee9ca37855 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:a983dc1b-253b-4f9c-838b-2e2384da214a phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0034414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:7f267c35-3dc0-486c-b7af-0725c8dedd23 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:b946046d-684e-47bf-a0d3-a2d186c47480 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:e811ac51-a44f-43e8-af4c-917a4141ae44 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0003180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:d14aef51-8e9f-4873-add6-d643d5222be5 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:9cdbd071-6774-41bd-8e70-251ce0836eba phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:24300288 uuid:90aa5776-24db-497f-b9ed-ba39e6a483f7 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:090f6a21-9699-459e-9a61-01966dd8e2ba phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:021723b1-bb99-4414-a998-e371e47de5b5 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:1f87659c-0676-49be-9fd3-0f49c12d969c phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:3c6c8dc1-1000-4fcc-857f-1d0e62674235 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_phenotype HP:0003311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24300288 uuid:e9ba2df7-049f-4e24-af01-549a083efbc5 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_disease OMIM:223800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24300288 uuid:83e4ee8b-e0d9-4ff3-b591-85cb52ece794 phenopacket.store:DYM.PMID_24300288_first_patient biolink:has_gene HGNC:21317 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24300288 uuid:f11d13f3-3345-4912-88e7-a70b0e23c3d8 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:b70b384c-4175-4c32-b85d-1f4909596757 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:15ebcace-123a-4cb5-91fb-cea2276dc1c4 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:284d7587-a5a6-4f06-9081-24a8abdc8ed6 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:e628b96b-136b-44ee-945f-34f60e7d26e9 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:26922654 uuid:0a21a669-5b88-44fd-a596-5e1412b80e81 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:26922654 uuid:30a8f11b-2fb1-490b-952a-eb3c0c7522c1 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:0f37d2be-833a-4ae8-82ac-88d1eac7a131 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:2fdb7442-fd6a-42f4-8eaa-5d4c295670a3 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:26922654 uuid:2a1179bd-a586-4008-8d2f-6efdcf178d63 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:26922654 uuid:71f61cbb-1df6-4abd-b623-3690ad6ce2d7 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:26922654 uuid:d7dd0c82-57eb-491f-b81a-dd84ca672802 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:d6439d02-93c1-43fa-862d-efe046e57298 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:9a5cf367-2a7f-4caf-a1d2-a396d9b06429 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:059323cf-9947-4202-93db-66d5735f6d9a phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:264181b0-333f-4107-8a9c-4ea4a6768617 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:8a4715b8-d520-465d-9161-0983ce3b80d0 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:f81cda6d-d558-41d2-af29-b651b3e720f0 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:b3c5a65d-8746-46a7-a30a-8e44733a3807 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:e21dcaec-e4a6-4ada-b4d8-5fa30efa6b8d phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:095c1f1f-0fdc-4d55-9587-d4b84c916d78 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:c21ffa79-805a-4f0e-a8b5-4886cdd02ad4 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:1e3dd905-2871-4519-a24c-95aff53a7f10 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:ec599764-eb4f-44e7-8471-d98612201b5c phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:01071d88-dc9b-496b-8751-8f2d1dd4f8d5 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:f527551b-95e4-4d18-bbca-287b0bb8acdb phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:8d46b652-fc91-4d37-a325-7110f4a4305b phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:936a5b76-b0a9-472c-9b96-566a62e72994 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:100adc6c-0fd7-41e4-bbe4-db7c8cafb27e phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:18f49f04-a59c-4572-b438-24f9e9e77066 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:f3717637-1116-47d9-94b5-b00c3ccccbd5 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:b3af8764-4002-48d4-b501-c19c940067f7 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:0f39bdb1-5a3b-4620-8934-7f3c6e0bebc1 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:914a97d3-ad60-4a14-a21a-9647047f99bf phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:69b2060a-a6dc-4321-bf3e-e5ace0539c15 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_disease OMIM:614104 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26922654 uuid:eb5d2508-c7bc-4170-8399-a4a796e63d54 phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:has_gene HGNC:3091 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26922654 uuid:b011a1a6-6fb4-4531-985d-41664c9b6a7d phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26922654 uuid:edc24199-5677-4ac2-978f-c0875aeb95e8 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26922654 uuid:8b459541-4aab-4e39-b653-284191733c1d phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26922654 uuid:9e77f6f3-519e-49c8-91d7-323c8f1f2052 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:26922654 uuid:252fced8-e604-405b-9099-a59cfbe8ba35 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:26922654 uuid:47a99422-9124-4d3d-be76-4521c44b40fe phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:26922654 uuid:69a24705-1a14-4067-b256-e7125e76f82c phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:26922654 uuid:5ff2ebed-e2a5-4b31-8044-fbe7450925f7 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:cb1c7321-bf95-4179-9039-32c7dde7c1bc phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:181478d4-d407-4654-9346-a328db9c2a4a phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:9c1960e9-df9c-448a-b85b-6507171f6b74 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:aaa00875-c863-447a-8fc3-ed30ec9f1daa phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:98462dc9-ac68-4b14-8b2e-946fae9e9a17 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:5abdfe71-074a-45e1-9245-986b0d3a4902 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26922654 uuid:cdaf4f0e-1323-459b-b631-8d6189604aa1 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:26922654 uuid:54440846-d482-4535-b568-4abc7c9554d5 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:cd9da83f-5e63-4512-b939-ed7a4fa70900 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:0ed1258e-b39f-44c7-8b9c-16be12aab6a5 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26922654 uuid:c9c3063a-c23b-47b6-b0e9-c87147d646cb phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:4d0473df-ef06-4361-9fcd-a5680eae758a phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:301e9b5b-8436-4fa5-ab61-5a9ef6d2d6bf phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:c25e9d4c-a302-4fe1-a4ca-f14196c8d3a9 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26922654 uuid:13fcbd08-726b-400d-815e-40f9f3f184b8 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_disease OMIM:614104 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:26922654 uuid:350e165e-6930-46c1-a304-aedf071b42b5 phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:has_gene HGNC:3091 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26922654 uuid:4af19cb1-beaa-4fe8-af8e-3716a7d894b6 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:8cf475fb-b36c-4735-98b6-6a54bed0d5ec phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:386a5870-6f71-4a74-8117-9a9a4bc3d4c0 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0000674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:385c291d-f8e9-4f7b-94df-9229612beb08 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:68ff0415-e3da-4183-a922-a956f808e009 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:90c68c5b-1e64-4cd0-afde-fa3e1700ef44 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:c5489c2e-ae88-498a-a842-0c562f7e65a5 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0000966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:6d01cac0-5d6c-4ed0-93a2-d718c5c8ac92 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:3bedcb10-7919-47c1-9408-06f1103c9d04 phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18702659 uuid:9cb36dbb-2a9f-40c2-857f-f5b3f865514b phenopacket.store:EDA.PMID_18702659_proband biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18702659 uuid:36bf64ca-9612-4640-882a-b13d08946e8c phenopacket.store:EDA.PMID_18702659_proband biolink:has_disease OMIM:305100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18702659 uuid:cd4be1c3-da7d-4309-af4d-c0e0ce91dcfa phenopacket.store:EDA.PMID_18702659_proband biolink:has_gene HGNC:3157 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18702659 uuid:2d474f47-fee4-45fa-a4a7-4796ad59dc7c phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:5e5f2f10-7188-449a-b923-5ce25f918b20 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:84296a6a-3270-41b6-bd7a-015c01cf3064 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:6bc27cb6-84f7-49fb-b9ad-f09148c3649e phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:f8dd9a8a-ccf5-415e-b544-9634b0420039 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:7b8811a0-6e46-4eec-b172-f23fe86912c5 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:bf9011e8-f825-4ef0-81a5-e15a346f23c2 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:196756dd-9c47-49c5-84ea-a270078115f6 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:d42e7a2f-0d44-461e-b4f2-0e4eb863becb phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:78cd2fc0-6441-4998-9e0e-caf1b0c02c5e phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:c3fc61b3-5b1b-4686-808b-7213aca39498 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:33807164 uuid:085759a4-245c-4772-affd-8e0030ff3c96 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:7c3c9c86-ec51-4e6f-b9e7-5612680fd778 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:e5a278ec-90ae-419e-86d6-33177c57869c phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:66503b8a-6249-476f-b598-0ba51fb2c06f phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:0de4b2a4-c3c6-4ff6-ae1f-420d7f346da3 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:db8fba53-4125-4e97-9401-644ee9a574d7 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:9796a176-5049-46e8-addd-3be7bc6fea3d phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33807164 uuid:923f9744-68b7-4e3e-8923-43b1b45ac9d3 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:d969dbca-a45c-4437-8abe-854d27f13677 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:2078a862-5e50-49ce-8d81-5f72ad026c33 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:79269901-2062-4df7-af59-585460966b10 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:079fc1d0-6627-4e68-b0fa-92b0f2eb930d phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0005214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:e9fd89e6-c9fc-42e1-809c-7b8f15fe8d92 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:80abf1ab-1c5f-4d4e-b268-4dd4788ad537 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:23f26f38-d82f-4897-b389-33c4b1e772a5 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:ca4e78a0-7137-48d3-b7a6-e8d87367db60 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0032446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:bdae3bad-c5cb-4399-b001-04b28771724f phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33807164 uuid:d2a46e03-4c9e-49ae-994a-86b863fd9b1b phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_disease OMIM:620780 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33807164 uuid:41186969-2a14-494c-92be-99cade11caf3 phenopacket.store:EFEMP1.PMID_33807164_proband biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33807164 uuid:0a58c75f-cbf2-4403-9afc-1b116e07189e phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:5d546c9a-5e27-49c9-992f-bbe66143f826 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:has_phenotype HP:0007906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:8355dfea-04f8-433e-8394-3680f3007086 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:has_phenotype HP:0012108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:878147de-8dbe-41b5-b724-bb11f52689e9 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26162006 uuid:34a28261-0b08-4eda-8f3a-1d64f7b648cf phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:has_disease OMIM:611276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:d001d501-4d2a-41de-aac8-81e129c998d6 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:ba613442-5017-45c0-9852-6a6d2eeaa7eb phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:fbcfd405-91ab-440f-b2d7-a2df15787b57 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:has_phenotype HP:0007906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:84c37df5-1602-41df-83c3-23b7d3798499 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:b3778039-ca9c-485e-9331-f9085ae6e3c3 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:has_phenotype HP:0012108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:f91174a4-bdcf-4bad-9f89-2cf60757bcb0 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:has_disease OMIM:611276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:bad48c31-be53-4772-b5ac-fcb3c4144e54 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:666ab33f-ca31-4309-b52f-340216f1a02d phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:dff240a4-def0-4984-ad6c-7da52d42d37a phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:2680d757-51d1-4e12-a351-5dae949f4b6f phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:7b798a0f-e97c-44fb-a4d1-46bd59ac7fb0 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:b0e37c8d-2358-4e50-817f-33cddfae804c phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:99ea6b24-71a0-46b6-ba93-7af4174b9b66 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:f40f205d-70ff-4627-a13e-984a164b6ed4 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:8d1b2cee-49ad-4406-8007-7494e9f67019 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:67619f3a-9601-4d6d-86a7-380299d6719e phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:b6404d3c-8040-4adc-b511-4d783e1799e9 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:f901fc44-2e23-409a-93d6-44995c284cc1 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:00fe31cd-4fa3-4940-9465-20fa4f10cb9e phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:ac84ef9e-2184-4cf2-9f07-241b794d7907 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:fd208594-b6c9-4998-92d7-ed4c602d7d0c phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:299e2634-9812-419c-ac3b-2efcbaea995a phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:32006683 uuid:3a954029-f6ec-43f7-9adc-82897e80fb41 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:5335906a-fd6e-4341-8743-377452688fbb phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:a386acbe-4b1a-40e9-967a-dd6243d5a368 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:27b35251-e98b-4a76-867e-014c3a2faee6 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:ba999994-5ec1-46c8-b4d1-eed8b8faf2ef phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0002253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:d82eb025-da63-44be-8b67-eb9f6fcf5d07 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0100808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:6af62b50-a07f-4533-af90-31e127de08ad phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0010811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:2f80fccc-f986-47a9-98fc-669e2722404b phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:bcfbc962-f667-4ce0-a84c-027b46543325 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:7ac6e94e-27a2-465b-b504-c570f57ab4d2 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:ac30651c-3668-4529-bba9-07415bc850ff phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:56e4e9ef-9896-4d19-afbe-985c136214a5 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:3521bbba-cc01-45f0-89d9-0d629acd35b0 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:d59c80f2-0a52-4b72-8a58-7ae339509d28 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:5f672a7b-8a4e-4994-af46-0fab712dcb91 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0005214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:6cf87918-7aa4-4d19-965d-708291296f69 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:7b5574fb-5007-4793-8d24-134a1a5f04c5 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:844032ef-47cd-4353-8297-8ca71d607b43 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0032446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:99e13d46-125d-48af-b7f0-1545eb448603 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:1781cf72-2e23-41f7-b8a1-1484127e3cb0 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_disease OMIM:620780 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32006683 uuid:f89fec5a-0886-462e-b19c-8fd57fd550b1 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32006683 uuid:e414bd9f-f0f7-4ce6-9448-db7f76c0fe44 phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:abb09822-01b5-4b7f-8a36-662737dea597 phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:has_phenotype HP:0007906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:b422717a-853a-40f1-8e4b-8a91132b1a16 phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:has_phenotype HP:0012108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:60b344fe-2865-415b-8940-90331b54d2a2 phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26162006 uuid:a7a9c8b9-72f9-42f7-acca-69d119a9f155 phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:has_disease OMIM:611276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:1f30dfff-063f-4822-ab26-f4a7647f857c phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:400f0e25-cc81-415e-b625-1763cb9e5e2a phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:011dbbc8-03e9-41f2-ac6e-7e888c44690a phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:has_phenotype HP:0007906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:ac188666-2987-4a93-8b18-b8db30b303a5 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:d13455aa-6971-4617-b684-a8f2bc44196f phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:has_phenotype HP:0012108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:7435b11b-11f0-40a6-8a9c-217bae7755a1 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:has_disease OMIM:611276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:55c2aab6-7553-4246-85e5-b197b08cbbf1 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:e5beab88-bb05-44d4-97fd-fa70a8b2ece0 phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:1e6c447d-209b-48ac-8c4d-56a58e2fd9cd phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:has_phenotype HP:0007906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:ce10dda1-b6fe-46e7-b4d5-f2c246e8873a phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:has_phenotype HP:0012108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26162006 uuid:2e066d74-97af-48ca-aaf5-017ea4ae796c phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26162006 uuid:a11ecf99-3ee1-4fb4-9640-fd085c0cf5da phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:has_disease OMIM:611276 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:0fed1b2d-3c07-46c4-b650-ed5fc9e251cf phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26162006 uuid:2334fb81-c3c8-4567-a7fa-b730c6145335 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:17e6b1e9-f12b-47fb-8d90-defff5f1ebf4 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:0952f78e-8b1d-4985-88b9-086fbe7a859a phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:cbcdc92b-260b-485e-baea-6a9ecc3058bb phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:d675fcaf-e915-40ad-92b4-df94bb5a1101 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:b302d9d0-614d-4a44-bc55-e50d80daf88d phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:e5b350bf-b7bb-4258-a6c9-037cb742f2f3 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:78fdfd34-2f65-4095-b867-ceddc523fc16 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:f31ad0a4-9ded-4502-bd3d-6fadc849492d phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:0bbf4892-4953-4753-9ae8-4713df22ddd4 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:daf33da6-297f-4ff5-9d9a-1e90f87354d7 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:39438c9c-27b7-4f49-bf7c-b32e5aa355c4 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:4565bfff-c361-40d8-86c6-33d344f6050c phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:e9efc387-af01-482a-b0e8-f7e6cff72b71 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:0924f2f8-8788-43ac-ad48-a30d722ecc10 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32006683 uuid:3c23adb0-5055-40d1-865c-935897f83a52 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0005214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:32006683 uuid:dfb6ecf8-90e9-4b4b-96ee-5dcda171d274 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0002253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:32006683 uuid:465cf310-52bd-487a-8b7c-6f6cd34754ed phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0100808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:32006683 uuid:b666b509-f2ff-4a29-915c-1a0546df38c9 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:32006683 uuid:3ebff798-8e49-4432-b729-f23c6e029b7a phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0100822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:32006683 uuid:7dbe16b1-a9f2-4211-a16a-b44956fdd12e phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0010811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:26204ddf-fa6a-4210-939a-062a21b07ca5 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:c1230628-201a-476e-99ba-0d05d75760c1 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:d18c34cc-7695-4a9f-987a-b767ecdc373e phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32006683 uuid:2dc87327-166b-41f4-afbe-12aca7354eec phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:1bd8a1da-a3ea-4143-9f90-57ad7ceddf03 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:f581c3b9-7828-49e0-bc71-0fbb0bb50551 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:f004f262-ac8b-4d9c-b79f-cea98f91be8e phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0025193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:e97d403c-79e9-4f35-b8c9-211eaddea06e phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:2ee4934f-1333-4140-b30b-56e593661f8d phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:a6f4ccab-eca6-4a6e-8edd-daf7c7f4ea8f phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0032446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:e3628cbd-b502-4e84-8b75-5496d27255ae phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0000015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:d63a9091-c4a0-4730-a888-09116b943df9 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:d628f575-0dbc-4e66-bee4-bc91f61ecf4c phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32006683 uuid:e010a736-cfaf-430c-b201-532bc2c68c52 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_disease OMIM:620780 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32006683 uuid:2250cd9b-cf0d-4503-b937-66e9f120acd4 phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32006683 uuid:08d9245e-079c-41cc-9075-05ccefa2f785 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31792352 uuid:1f996834-b333-4e8d-8677-f9ebdf4af876 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31792352 uuid:0b833c41-1a84-4fb3-9b68-27053a3ca5e9 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31792352 uuid:358d958e-896e-41c6-80ba-20cb9f266c50 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31792352 uuid:f701a7c6-e59f-43e3-94b8-fe4d4f024bfb phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M5D infores:phenopacket-store PMID:31792352 uuid:1a165ce0-71cc-412a-968b-ae018185209c phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:dcd6bcc7-6c2d-42b6-bb23-4e4894a54806 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:3a3bbb86-7c9c-414e-986e-24f82e017dee phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:13e9679d-df9d-4b7e-81da-6b46738400e2 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:85ab6f58-879a-4f0f-86eb-d6e0589aa050 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:ffbb2d00-0ddc-4737-bf69-f62ae075b4a6 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:91803ec2-4a8e-40d7-884a-6e0d29ad8dfb phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:acfb2c67-f6b0-48e3-a9ab-824d9ec80c14 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:4e8c2f86-7610-40f4-bd26-6278939ab63f phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0100541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:df9da28f-6c5e-444d-91d1-ff515efb52e4 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0025193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:b9b38708-dcca-4b3b-967f-f4e6ce5b7c5e phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:588934a7-c6de-4b2b-94c8-50926080da34 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:66967b9f-4fac-448d-af5d-1e42622dc60b phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0032446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:5077458a-fe58-4210-b7ec-772f54467e60 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31792352 uuid:6427df75-40a8-4f56-897f-a891461ff359 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:eb97c971-2c08-4170-98d8-c82d759944e1 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:b29919ad-e87b-403d-b6a2-910098b2d313 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:cc39a95c-89b1-4466-b78e-f4c12a5ceea5 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0005214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:0d4d1099-1753-4730-98e4-5d333ac80d24 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0002933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:1db5412b-bb2e-4745-bafd-160590b19c32 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:a14ce9cd-ff93-493e-826d-792fd64b55d4 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31792352 uuid:83f3d035-cd44-41e3-b7f8-b05d5dde8e1c phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_disease OMIM:620780 biolink:CaseToDiseaseAssociation manual_agent observation P1M5D infores:phenopacket-store PMID:31792352 uuid:bf7a6478-e5d4-4a0d-b0c3-72c0c8908a45 phenopacket.store:EFEMP1.PMID_31792352_proband biolink:has_gene HGNC:3218 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31792352 uuid:eecff290-5a02-4683-bd0d-b981e5078118 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:bf2e7fc6-52b8-43d9-a5de-1ddb11497abd phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:958996ee-ef27-49c4-809d-5b8c59f1a043 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:24911f7e-40dc-423c-ab36-baa14a3f9b1a phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:32fc4d73-2800-46f0-97a0-258eaa248fe4 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:df7fc7d7-1012-4011-a9aa-03033abae332 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:df321258-c181-4566-9eea-c29c88b47686 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:b9509afb-3617-4458-99f0-3a63d483304c phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:5982fbfc-6bc7-424c-aee0-916f0c5058ce phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:91b247be-6d3f-420e-9dfd-d6292bb91878 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:cda665ce-6cbe-46cd-b309-78bc69cef773 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:992367e0-4ce3-464c-ada1-bba8db2f16e0 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:629ba392-52c6-4bc2-a2fb-c5162f73d534 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:2d1f86f8-617e-4b08-ae10-c3e645530394 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:543a1bc1-9167-412f-af7e-1e1394699c45 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0000912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:ad272949-80df-4ea8-8dc8-de49887e00b5 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:668b485b-0e06-4c79-b953-902b91e79f66 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:8721e45a-48b5-4dc7-ac77-2bf3d1fe79df phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:65410319-9291-403c-8ae3-9b4816dec706 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:a1b8e470-4c15-49a4-b467-178bdc7f6be8 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_disease OMIM:304110 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:80b49344-63fc-4a84-9ac9-0f729e85bb25 phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:has_gene HGNC:3226 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:6f2b9c7d-83c2-46b3-b78b-b2bd0a6e9d41 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:885920d5-076f-4767-a563-c1d6b989cafe phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:74ba599c-701e-4242-a7c6-969eda5f7e9e phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:d4ac46e7-760f-4e07-a2b3-5bd04a8b1c84 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:4423e51b-a802-4627-aad5-ab06716e9ccd phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:8311f57c-faf4-4d4f-9e47-81b955707ee5 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:e9f03f47-7960-427e-a7a7-7f18a2f743b3 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:aa8ecfbc-fbed-428e-9b88-012633e429c4 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:96136c79-e8fd-4cf4-9f0b-c53c810a6003 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:31cf4f57-9c88-411d-b474-a1f81f2e42e3 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:910d3db3-fffe-4677-bdfe-736a61b5c04a phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:a069fff1-09ba-419c-ac38-d1e652682c61 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:89a76837-4d7e-4f7e-b27f-20fb464418e3 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:5b87510c-36cd-42a2-af28-d69415f0ff89 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:c7e469b8-da26-46b6-aafb-a602734c5ea1 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:3c489291-6d54-4ae8-9037-d07fd6bf8112 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:54f96c88-31b1-40d3-b6b6-1bd007b890fb phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:5e0f524a-5a94-4f12-8317-648c318cf600 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:06d7e681-e8ae-404d-9907-8b164e4e85c7 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:236d3c36-6bb8-4783-8330-ddc40e815023 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:85a26f78-df51-4655-9e22-fd28c87b6f53 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:4b2c40df-6996-4c82-9bf3-75625599e672 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:05dd4f99-e34e-4312-8097-74000d28d544 phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_disease OMIM:304110 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:bb275acb-661a-4770-a08a-13ce55c9109e phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:has_gene HGNC:3226 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:fb8736f7-7173-4284-94ca-86fa6452990c phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:9fa48800-bda2-4354-b379-56ee63ed6142 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:f91e09e5-bb46-44fe-aba7-1a6fefac28d8 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:bd428aa5-4717-455a-b000-28ef11613a8a phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:8959c3c0-a7d1-4dfc-887c-1415f1d63a74 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:edaa597a-bdfe-45a1-aa37-9daa253b5960 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:499e4b55-0b6b-4481-bf47-787ed7799ba3 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:09f930c4-8058-441b-a649-363ee56914f8 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:a71c8f71-ded0-4c43-bf57-830139b326a5 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:b0b8699f-1dab-4fe5-9bd7-cffa0da17379 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:80d5105e-165f-4777-8672-3b7cb09cd091 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:990fd5ef-4cf3-4c00-aa2d-3183065f05e2 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:827d3fa4-85d2-4c51-8590-fb1d707a2735 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:f06f68e7-ff65-4f94-915f-829271078b68 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:be37be71-24a6-448c-bdbe-25ce47038a28 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:e62b266a-8ad1-440f-b3e4-7c0792dc3dde phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:7d5170d4-9799-4c20-8eee-9df92cc1d4cc phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:1c40b59b-02aa-45ae-b6f3-8541fd70eb63 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:6bbf47de-73c4-4348-8aa4-15580fe57d47 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:dcf8c683-b560-4120-8af1-5a0570aa8cfd phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0000912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:3127772b-7136-4c7e-9cca-2e025326052e phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:ffaab4b7-9173-4418-b4f6-12b31911037c phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:bb644cb3-3665-4062-b394-e4f99c05d1c9 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_disease OMIM:304110 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:d7f8fa25-23e0-471f-af02-aef97c0c1da1 phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:has_gene HGNC:3226 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:9b5f21da-b5bc-4385-97a7-053acf75fcbc phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:c6c27f01-0262-4b4d-b5f6-c07d6c8d6e91 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:7c60fc25-6aea-4b31-aceb-780027b23f7c phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:1bf8902d-80bd-4826-9768-0724de0f1238 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:26167d5b-5ece-4337-b736-4501de341685 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:816e8398-380f-4bd3-85c1-81b5b7089d8c phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:6d2db741-3678-483a-8262-2c6e8d1046ba phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:46228ffa-27d7-4313-9fa9-6c67ad480d92 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:f64971f9-ed99-47fa-967c-dfb79dff2614 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:bf0fd0a0-0290-42fa-88c5-da77612fae78 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:7ae11913-435c-4900-8568-898067d8d637 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:5121ad1a-c3b8-4669-b6eb-c6f578406ca4 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:3c7a7ab8-5492-48e4-90d3-9c645599fa7f phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:adfca8b4-6540-48e8-920d-5c6524ef9c99 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:d9cb5914-40b8-4bc7-b1e5-37633b79d7a7 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:402820ad-9970-47d1-844e-c77db755ffda phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:caf5aced-f11f-4b75-b51b-a7ccaa96d322 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:6b90388a-e5b8-4390-8c50-e7cc5acbc171 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:379eb244-2dcf-426c-9e25-0e429a4d88b2 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:4c700cf9-93bc-41ad-9350-700d74400dc0 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:cee8b315-ae83-4130-9967-170778bc219a phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:4bc97c0f-a6f0-422e-a4e2-84959e2a11ca phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:4bc717e9-c64b-4fab-a71c-af6b7dd18b44 phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_disease OMIM:304110 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:facb2d21-4c63-4141-8174-ea6590214afc phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:has_gene HGNC:3226 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:f16499aa-50db-4c2b-ad11-b4fa11498487 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:b44ef26a-7ed8-4a3e-b727-cf61fca72449 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:f5b83067-c802-4f23-9aed-451fb740eb1d phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:e26921e9-cd51-476c-9550-099fada6955e phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:3ba85b51-96bd-4094-ac94-5a4a9e3121b6 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:b6ccc210-0d33-478f-85d5-24d1150933ad phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0001807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:e9105ec4-f15a-4e84-b338-5ceb2f0942dd phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:e2023bfe-2330-4e3e-b9b4-4c8aafad18b5 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:c8e96b13-e497-495f-b78a-47abcc240b64 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:8be66e25-2071-4955-83b5-75d7b844450b phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:9be04d80-27af-4263-8f05-75778202e4fc phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:82f92499-2e22-4dc6-b870-0f1df1ccdc1f phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:4aabb415-a7ae-4316-b188-54defa96fc10 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:5fb7a1c6-3b63-481c-aec8-cde7df37261a phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:6601d090-6004-4a6d-89eb-bfa87ed2073d phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:ace8a5e1-aa1c-4751-af3f-4ecf598fcdbc phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:afbd4e98-82c3-4c52-9dbb-6eb437741c02 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:22978b7a-3018-40e6-9d74-25562d5bfa29 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:8bb545ad-e491-43da-85f8-d4b2800992a1 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:537f8d1e-e43e-40f5-86fc-df44ea719e15 phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_disease OMIM:304110 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:3f81025e-1316-4269-9b39-a64a4ba1527d phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:has_gene HGNC:3226 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:9e636b92-18aa-435b-977e-2551749dca37 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:9b086692-dc4e-4513-8d61-47c472f370b6 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:7f913970-7317-450e-97c6-e39aa8795d04 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:4c9e6ab9-2fee-461f-a156-d6b636ad7227 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:e93dd0c5-abc7-482e-8167-73e0818f4ecb phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:234ec04e-5f7f-4884-a22b-663bc73cbcdf phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:4e8d1453-a13a-44e8-980e-6b09b1471b0e phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:a5207825-63aa-42bf-a4aa-334b331b4e5f phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:8e0234dc-af88-4d90-a1da-7628e4fd74f1 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:aea91d8f-c4f7-4c28-9cf6-40ee5a5e4acc phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:a39c9783-48d2-4111-8027-774a412b52c3 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:49c15ea3-4ebc-47be-a19a-30b9489a6e9e phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:548b0a54-c28e-46a2-a2f4-9367d89d95c0 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:7c6e6ae5-183d-4902-bb3c-4e67374b0bfc phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23335590 uuid:afc40c3a-0bf4-43c2-a512-ec1b7f2d1742 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:b25760bd-0d9e-422c-92a3-1960c75b6fcd phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:bc2ecc0f-6b9d-4aae-91d3-b94cdd618c36 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:8eb11b10-1029-49ba-a357-46e863bc1897 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:1fd548ff-f170-4b93-ba43-712323d0bbd6 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:6cef64e0-caf8-43bf-b0b2-0ddae32cae23 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:c69d3ed2-8a47-42ae-b0fa-1309cc418702 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:1bab3071-ad16-41d5-9be1-b366545320da phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23335590 uuid:29f9c14b-a883-430b-93c0-c071a4ff21bb phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_disease OMIM:304110 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:9594f389-7dac-4b3b-9ca0-9db265f0b2c3 phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:has_gene HGNC:3226 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23335590 uuid:a0b6072b-86cd-4c64-8c45-be9a8f2f9b09 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b4aa10e5-226f-420f-bb37-7f2e85d67695 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7fea0604-99eb-449c-b064-99c97bfb8851 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d6e5680f-2276-4a6e-b456-5c20be4578f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ed1c0b01-5f90-4374-8336-46133913f240 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:12ece8ee-1d97-4101-a6c6-5a7690f2d88f phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cc565483-cf65-42b4-8e0b-bcb0d792138f phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:055be55d-241c-441d-939a-00cfe79e90fd phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b0fb87f1-873a-4ad8-9999-a3e0595d259a phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cc39b646-8df9-455a-9c45-b8d726145af8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:76b8a6fe-c7d0-468f-b8c6-9f00007c53d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:621abc97-2a7c-4cde-9a4a-56ba0317f500 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2f2b77a2-f838-4486-bba3-f1da60f6d9b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bae71e6-ee97-4d6e-8b12-ba08674dce52 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e32da74-b088-42e9-95ff-6c28973a7b4a phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2acf0af6-1f17-4dad-87f6-cb6e6beacd7d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ced207e7-5536-4570-a3b5-72d812b4a89d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f050679-04bf-4c76-b7c6-98cdd702bb7d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c71289cd-c43f-4d8b-bcfd-fbb476df6ca8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd23945c-615c-425d-9e10-6df09f642dc4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3459a7a7-90c1-4940-8240-a448615fea5e phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:247e0e61-aaa1-447c-80f3-dc6e87e6a388 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12fea9dc-448c-470e-beac-c24a685d35f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fbd2558-f7bb-4558-a1af-95552067b71f phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2b7b882-30f0-445a-89da-bb3e5117801f phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24abaf76-4df4-4587-81d5-3995d8b80553 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d454b20f-84b5-4bb2-82be-ced914ba8fb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e80d9ede-4c4a-4278-a1bc-e6d5bf06022d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06dbe979-32ad-4222-bc8f-a8b0665015d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f1d1861-fb90-49e1-8602-87680d48ccb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd334c37-fcf2-4c8a-81c1-0be767ff91ae phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2173ec2-8361-4404-b893-7378ea01395f phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3bbebec-cdda-43e0-847e-7120370d45a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1de2a5ed-6660-40c8-bf1f-ee104903c79a phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64e6e424-070c-4e67-9e44-1742569ac84d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06586357-5013-4c9b-a0f2-3ac423b75d49 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6befd7b3-c47f-447c-aac6-c22e98025b14 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3fa81b2f-fa1f-4b5f-98d3-32372039e09d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfa781f5-3037-47c7-b7f6-191a42a1fc7d phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b59bbde-4b22-4624-8751-4de7ca9d0037 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e3e4100-4377-4956-9e6b-5a9dc0a57e74 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd54490d-900f-445c-b6e3-ef087e183700 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bbf3388b-4eb5-4a21-b74c-11e09952a64c phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48dbd1d1-4470-4686-9099-39bd0f3e192b phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8659401-6b8e-4c8e-98bd-14740a8b7b2c phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0dbbad31-94c6-4458-9124-3d6622366238 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:14d14ef0-cc86-42db-81e3-5475ddc83051 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3cec6950-40f6-4a67-93e0-276011a898b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e633674-9796-403b-9059-b5a4c8e20977 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49ba51c6-c37c-407e-8224-2038ed8bd40e phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bc90a6c-9396-4e26-8b99-b6fae9aeb04e phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7fbbe7f-9c1b-42d4-9ffd-0f451e7e3cec phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0391b8f0-0e4d-4107-90dc-90b303f8b4f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a977631-9fc0-4dd9-931a-7911fdec9162 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea26fd8f-6a21-4a99-8313-a1c00c882e71 phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bbfdea83-57f2-4937-be88-c57243354f9c phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:69094e72-2d43-4073-aeb5-f9d1551b8790 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a2d8ab5e-e684-4821-a4c4-4bb6968e0af5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2421f329-146e-48bf-b3b8-a6d502858e49 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:49334719-a51c-4039-8599-8d13ca1dbd69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bf8c03b5-eaa7-4c73-ac01-713defe41e63 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c00089ad-957b-475f-b6f0-ebab065f93cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7dc5c0bb-43dd-497e-bd83-b9c9db49eff2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c988e812-b864-4aac-8755-26b7b9d5b7a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bc6f6d0d-cfa7-4c3a-b573-ab0d8c170a54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ee7a23b7-cb11-4baf-80b7-438814f97212 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84b47b9b-a5bb-462c-999a-79a79f2f962a phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f428153b-e50a-4275-b9d5-d4e805bd61b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:954ae43a-0551-461f-bc58-3f304567349b phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0232981d-4ad9-41ef-b20b-0091cd6c8fa5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e9d81783-ff0f-41b2-9127-40b42b854528 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3bf58d5-a05b-45b7-8ca0-9be4c492726f phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2838ba2a-82a6-4875-8544-912e0b04fd7d phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:faf5cb19-2603-4b41-981c-694eb579e941 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:240d1138-ed48-415a-89f7-386af2ccea07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75d0191d-7bbd-4adf-a097-bb896d7286e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:375bd54b-5bc7-4271-9503-85757f02da81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13c6d333-0cb7-4fdd-a978-e72b83761fa1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52bc2383-72a1-4191-853a-edc5f14c3e74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28829de2-eb25-4da9-a24d-d1d56ebcc1c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83c34b40-9336-4584-a9c8-a6d5a033fc5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab612c45-f1af-4521-9d9e-17094ff0d821 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34c6cf5f-fae1-4039-b4ad-63fe2359ce57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45ad64c5-c6a8-4945-9d67-617e489fcbc5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b449d20c-a12b-4269-8900-f564f66d739d phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a96bb0c6-7b6f-4519-aedc-4ca9a91e0c7f phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90497598-d344-41bb-a180-4a9ceac8af41 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f2433fd6-8183-47e1-bd36-eff29440809b phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb7df398-cdfa-44a2-b388-2ac006d3b3e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9455f0f-974e-4835-b450-9ece96418bc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c542300-55a5-4e37-a624-4371d74d2aba phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a2a5008-e9c7-47df-ae5e-009c0a6076fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a7f598e-91a9-440b-af2f-981b9e083e06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca68b73d-c44a-41c5-baba-1aab87413d48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ec9b797-f0a4-46f8-b70c-df4565537fd5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:599fbc20-0d23-445f-8487-24e651716f92 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60974c39-3978-4d3e-8172-9fa4adea166e phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c7d53d7-cf45-4d74-9cc3-b1fb02644e2e phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25678c93-34b2-4937-bcbd-83527bd55320 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb23520c-0882-450f-94b0-75598872f7b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:43e8a9fa-b1d0-4c32-8ad1-1b04b4c5cc06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f1bca598-7a2f-4a02-afef-9c87d4120c19 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ad5456f2-83d7-473e-9a46-e66fdb315f2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7457e217-ede4-45ae-9728-15174db6e3d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:68ec2497-6795-40f2-a224-6cebc5d5d9c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d201a852-d02d-4ad6-8733-0c86c89f8b10 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cfaf965e-3b90-4642-bb7c-3a485a9e0262 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2b66dd5c-fe4d-43a4-8c5c-0f38b4acdb1c phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ceedc307-6fbb-48ae-8467-cdef8ce85720 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4404d4a0-5572-45ed-b815-7bba1e839f7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:783dea32-c0e8-4a08-8542-2ed3890a9a5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3f7c6619-500b-4fd3-8bef-064d7f009f77 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:340b9795-234d-4677-bfe2-604bc94b30e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b62146b3-22a9-4c8b-af45-481e9f88f7f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60c1cd20-dd31-4940-845d-4509970c28dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a601b92-539a-439c-a532-3129cccbec18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29cfa742-7009-48a5-b529-da5897ef1777 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9b26f07e-ca8a-419a-9404-6432df9555db phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bab07017-bb9a-47e8-bf66-f40801f3ba03 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4777aebb-2942-4f84-ba7e-05a23720e003 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d163b41d-b1f7-4c90-a359-6b4113a2eef2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4baa50b5-7731-41ab-9e91-38d39fbfbb95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bb49284-1c5c-40c3-9130-d46505f45ffb phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46db87c1-163e-49b1-b8bc-2809eec1bc12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1daa0f32-7ca6-446d-9aed-f088afc64adb phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c36b0897-6c4a-4cdd-a7af-000f2c032cb6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8dc0a156-676c-4746-916b-4e7e18b9b1b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:552ab07f-21c8-43c2-8b74-42162cbbfe0d phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a28406a-c412-4a8a-8a5f-75476c945531 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7753f1ef-b760-40df-95ed-472c7643e2a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85b05c4e-e71a-4931-9a4e-8ef67f68c732 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b6dc481-0487-4143-af62-c356f53fdb0e phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34eb79a2-c241-4875-b10a-6aef71e66b3e phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c61e43a6-0a34-453c-8874-1637d9925e6a phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2885d6fb-11d4-42d6-993d-e9a078cd67cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b302253b-35e2-4e66-8ca9-13a34090326d phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:062ffdc8-f28b-43d8-b66f-0c3f952ddec1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96ed8205-6a93-444f-aca2-fb636a585a38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a586536-c2d0-446d-ac9d-5400309100a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a76036c8-e8fd-4bf6-890b-7577cacae2ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a91ac33a-6d41-47d1-bc7b-cb839657426f phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37c9f09a-b095-4f25-8abf-c4bfc97c97f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e311e4a-5475-44f6-b90d-485e1b95498e phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81e21e28-9772-4ebd-a01d-55b33b3df208 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1e1d115-43d5-4236-8f82-f2b49d775ee0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e5915b0-b6d3-4d5c-8eae-bd59205ed0a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdd2ef3d-0544-4c95-8c02-96a693310769 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5ad969d-65dc-4947-a7ac-10367f6b4e27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:495a1071-3dbd-460d-932b-b6c920ca8253 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d0c5270-1e18-4c8b-a084-e052b345615e phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a84f584e-f555-471d-b87b-860d282a1fbc phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c29c6b4e-4d4d-4077-aad7-f8d5dad5c687 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03e74544-832b-4061-86ec-9cbf48a17256 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:018f6b1b-d0f1-47f6-b82e-da5c94ee2c78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:65efa4b9-934c-4f78-adc2-0a715461b46d phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:6d2eb0d5-3075-40e8-a9ca-ac1ce7cc3495 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:755daa74-4709-4bea-b3a4-dd6778c229ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:06e8c1e2-c5f7-4927-ba47-eb06025f03a1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:776ef907-1cdd-442a-802b-b93a7099993d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:06d70817-8f93-4714-9edf-855842d56ec3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:99ccee39-163d-4a9b-bee7-8fb16998faf3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dcdc63d3-3bb0-40c5-aad0-af06b1e38547 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ba279fa8-86a4-4ed7-aca4-baa86625bd52 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dd2d2900-9aa5-4f16-8eb4-025bb4518e51 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2823356-be8c-4e19-80e5-725dd12e9c2e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:355222f0-2838-47ff-a371-6c8296a4b1ce phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f522c97-dace-41ee-a34b-990cda4ea59e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1b0d3db-b7bb-4e85-8424-7e5eb0f5b644 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c6161da-d65a-45b8-9639-4873d524764c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37e3e1d7-6af0-47d3-bd66-6491f5fd0857 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60949b6e-4f03-4d17-b934-d1fbafcc3926 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:032cf154-e2fb-4d95-bf1f-f1b8c749e997 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e66e05bd-b7d1-49ff-a6d5-71bf969c814c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc6e62ab-c7f6-4d85-bb54-627d3a2fc30c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49009c2e-d20e-46f5-8b92-3f5ed61a33ee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aaf4c1ac-2c93-4c5a-bd65-90c4a901cbac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9461abed-0831-40f5-b2b8-38b7cf181d61 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9994d93f-3e2f-45a5-bf0a-1fbde60fb641 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5253fc2-59c1-4553-9c50-6a5e9786221f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c2caeb3-a66c-48e4-8045-f09a5df35308 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53b573ea-e04f-4b5e-8d8a-acf1a97f1c84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8c288d7-9ae1-4057-9bb7-33d16dbf5b88 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64a65ac8-f564-46be-890b-bb5a891639a7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:164700f9-71d6-4f2d-b746-332b6bc4d8be phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4dbad80-ed96-4e2a-84be-bf3842e988b2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9489d46-1fa8-432c-bf5c-97a81dc5737d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fafc72ef-72f9-4a32-8fb1-72e6694e3fa2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d56005f-e252-44e3-b1b9-2a5799db6412 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:147115de-4709-4df4-b957-f5eaf55bd366 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35b372fa-16e1-4098-9e51-3169b7c3d100 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ccca08c6-d4ec-40e2-8299-ab2f35b207d1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bfeb7fe-2d05-4de3-ad4f-6bf4c7b5125b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ea62c6b-a74e-47df-9aa7-1eb9b79eb803 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcf2d736-35ce-4363-aaf3-6e1857256359 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f73ffe7-5107-40d9-8354-c63526f738a4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ef43ccf-b381-4865-b969-172500dc2146 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1c84cab-2a00-4d73-b55f-e8283b459ed0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb4eb8ec-bec8-49e1-8aea-dff083a0cbec phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:89a36921-9263-4ce6-9642-50d8c4a4afe2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:773cfd30-3a13-407b-9a67-61cd187355b4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d46c8bef-d4cf-4b6c-abd6-6cbc44717e4d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6cb47a8b-96e9-427f-baa4-297193bae6cb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f83991af-508d-49f4-8278-a8c55ff5445b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb0df8ad-21e7-479d-985a-ca9ca37138ed phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:76210996-3056-427e-8104-53a2517c7a16 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8c0eb18c-e818-43c4-90a3-003348c514b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b4fdd5bb-8d3f-4935-85a8-62e4a8aa07ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dc244ba3-bbfc-44d3-80f9-6c337bbbcc20 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:417bf829-2b88-4e08-8d49-d8675311b2d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7773b71e-6775-45da-9e26-1e90a91e3407 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3edb8ac0-1378-4bc1-8232-cfe6d7740dc0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f72a1018-2ca4-402a-8abd-5247a5522deb phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:85014093-e144-49bf-a849-c7c3d7d75717 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d68da55a-030f-455c-80a7-73d998b01044 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:221c54ee-488b-4ea6-8e16-167f48e82876 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a6f0a24-0a7c-415d-a82d-8856e2d6c78d phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ad08eda-8d78-4ace-8aa6-07d4829b6e77 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b80b989-972e-4656-9f7d-512ca0cb5aeb phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2975e49-2fd2-4445-9dfa-dcb48d596590 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f30f23d8-1ff0-432e-88c4-92efd90c241b phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2118c8ad-4a2a-4d77-812e-35a181d10edc phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c29e11e5-ea52-4300-83dd-7710165be65e phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbcdb2ae-37d1-4a9b-8391-dc46f5343185 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bc58d46-f5d6-4606-98a5-6c50900ab293 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be46c8b9-9115-4ea1-b260-07b62172fc9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ef6878a-39d3-4294-99e2-5d25fc2b55e1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:962c5118-8968-4e8f-9931-40624d571d31 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66ca00f9-9855-4d77-a251-247c2caea4cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b647fda3-d54c-48f6-9d49-83db7dc3d5a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:00c85ad6-cc5b-4523-9b5c-335c323f617d phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73686b14-30a9-435e-8c58-01197a476ec5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9072cb78-bd07-4324-a251-50dfa7795582 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a20987e3-34eb-4510-ab0e-7886d63241ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a4a899b0-89d6-4516-8371-bd317a889edd phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4efe9862-c471-479f-a443-77aa386a26cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e0c3aed-de4c-471b-b44f-061beb171077 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:55baee66-5afa-4334-8f41-bf63dc9fb22f phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e278745-70ae-42a8-81f0-75ead3d16220 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d249db4-3c3a-4a54-84c3-282be23188a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1b4642e-165d-4c6d-8065-85e8f70d48af phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8305ad8f-8d93-4b06-95dc-88a2c41e7014 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4750899b-6aab-4632-b0a9-e6f2cead7111 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9dea0304-a6d0-4c90-908a-594ae1cbe101 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f27b881-0bdf-469a-a535-a758b3dab6ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b31da92d-39b1-4ce5-b242-adc54687fd79 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5362b5f2-665e-47f1-9b9f-1b794b91d41a phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:364cb3be-0f8c-4c2f-bfd4-1f682950c338 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4633d3da-4a77-4a76-b78a-89644d46613d phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee071d76-efc4-4812-947a-4f1f88dd73ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c662170-a6a2-4069-8de4-e6982738f2f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9599167d-6b5d-43d4-ba10-647f1304b4fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:566ac9e3-735d-44ee-bb14-7a2586e2d0e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:689cb6c2-2a44-44d2-a5dc-db9c1a3b8308 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19c63a14-87f4-4dca-820b-faab2946d578 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:faf512f5-c0c6-4f27-be73-3cc940bd30f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4bcf4a7a-4fb3-4e4f-a443-0a0c08f2651f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d2d80630-d791-480b-bba6-c7cf0ae19490 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:df52a134-1d79-41ee-b85e-01f0969d5b7b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:34ef1dba-0cba-4825-8bfd-a8cbfcdafc82 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05bbbb92-7b7d-4081-9790-f5219b0fd312 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17b313d4-d3a3-4e26-8a0a-ac476900d5de phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efcf36b9-9199-439d-9603-047ae7977d45 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d26e8ca1-f07b-4eb3-b033-3aed89f789aa phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8865295e-bd63-466a-8fe0-8489b0473aff phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ecb10c1-d114-4601-8cae-518a93427b39 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a165459-ccd0-4d4a-a08f-9b7762eef2b9 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0a06b11-aa1e-4ef7-beb7-b616776a722b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:168c98fc-588b-4293-9d3e-e51b786d8c7e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b9752c6-727f-489a-b2fd-5a74fb2a504c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84912d4a-d84c-42f6-8293-becd3869384e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:028db7f3-0968-4b84-9c2f-9e08a80be763 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64ae844e-f054-4909-b5b6-1837ee3e0ab0 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa4257b6-0c0f-4729-8e92-1d10c6903c09 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17d090b0-2557-4c9a-b919-c051b726bf94 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:080ebf3b-cb83-4786-888c-7ca8dbd591f7 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b36d107-6c6b-46f7-bda3-ee7c8eb0c69f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:487f62fe-4f20-426c-8952-4a863a37bc0c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da0d0957-778b-4b20-9dc7-e952ba926093 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da96bc21-1f05-4eb8-89dc-49fccd339584 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32024cf1-f81f-4c09-9343-6ea529844e27 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65d10d30-926e-4585-a19f-f966965b468f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8efcbb3-4442-4b90-8a6e-70ed46630c9e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc3eb6a1-7ff1-4aa6-9b5f-1c48c3db94ea phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ef57a2b-5f3d-4892-a36b-08f54fd18296 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:040d1858-68f7-4370-98d0-55af4b36f299 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91440cfe-8666-4bd9-bac5-53d30be44bba phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:217bf6f4-ff1e-48e8-8aed-89e574404edf phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4db24145-ee14-40f6-9ac7-5e19920b7530 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69011370-1c4f-4c5d-9660-e406ca4474dd phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:632db283-46cb-49be-b6f5-68bd0640a70d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9ef8650-9bea-49fa-a672-c4a75ef5ed92 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae62f513-8c52-4468-9e04-fda22447c997 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d410c709-569a-4d56-bfff-24b80017ed5f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18f4b4ef-4f5d-4813-bc8b-4167796b3186 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3236f2e-f1cb-4756-83c4-26031f39cb6e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae2f5636-7644-4c51-8546-999e3310094e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45641f6b-854b-4785-ae0d-10d814b30a77 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94ca36db-fa1f-4c73-8e11-96d3cbaae9c3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d61a8ab4-b701-4875-943e-c1173bb02a4c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f870d35b-71d6-463f-8365-8d6a5327f76e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b546a181-98e0-4e34-8a85-47101ecc4a92 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ed89660-57dd-4780-b970-34bcfad14c4a phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:328318e6-c218-4b59-ac6e-d3d95e9fec12 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:38878b53-1055-4d30-b921-143051b4bc89 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8d8c9c7-9f63-46eb-8fc8-771e04f23059 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb8ac980-2803-4ead-a0c8-6d16d0fad537 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7d8e9160-708c-440a-9223-56c4844d1aab phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2bfa25ab-1ceb-47be-8e58-290b39bd41ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2fdcf5bc-d480-47e7-b36d-7b942c48aa09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4bb8a08c-66c5-4490-af7a-d4905265ebc7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:35c4a802-9707-4a2b-a906-01b7b06c8880 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5b4ca1fe-cc4f-440f-b2f3-623c84b2fd6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5ca2b19c-767b-4b0c-ac2c-97f6f107112e phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:56abfa41-1015-44de-b138-64d0948519eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dc6b8e6a-bafe-4130-82db-8657060082e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1d3dbed2-6fda-4b9a-95e9-eeb60a2eb146 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa4f1331-f1e4-4fa7-a18b-db6054078643 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:51e0d3ad-41e4-449a-bbe6-767c5f8a97bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:854c5e58-6e26-4945-9d0d-31ce524cc37e phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef8cc8f3-66c9-41cd-9968-5091156d6035 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d117edfd-9a37-40b3-b882-e3ea02caf87d phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfc1e03f-086a-44d0-af45-8ff7c0630f7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f11f6cc-a2c7-444b-b0c0-2484d630760f phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:874d4b2b-2bb5-42a7-90fd-4daaee0481c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17d37c45-eac3-424c-a95b-bd341f4decb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:89e47785-3d19-4015-835d-8466116c0e78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c7bf5c8-6987-4785-b253-627efb81dab9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2262ae70-2548-4d55-9828-b88dc6f0dcba phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27cea7d0-3d86-4e12-9d2a-3e8680ed9213 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:059ac09e-e2a9-4699-bbff-ac906a3cd05f phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc79b015-7f4d-418e-9222-d96a941d0eb0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a6b7b61c-5294-4b9b-9e3e-75d072b6d68a phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c93d3e2-743e-4efa-819e-7b4136b260b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c6f7f2a0-4cf6-4ac3-b846-99a78fda2774 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b2bab00-c402-4dd8-af81-5f3fb5bd50f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c052a143-a4ca-4e91-a511-95a1a0170bee phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:000acf79-7414-461f-b5d8-a0117073a045 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8ca99b0-0819-49b3-aef6-4b576c79bdef phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74dd32b3-5662-41ea-90fe-99923846cd55 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0040d14d-c7b2-45a0-9bc9-dd3a0e54ec2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78e52b06-13ae-4859-809d-40aa91ba8ced phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f8db408-3383-4d30-8055-9b462733cc08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e5c83d1-bdc8-40dd-96bb-d785eb7260dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e49f794-e415-4964-a9fd-3562bf667611 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e08c4f1-a5c8-4336-a05f-d53de2ce7d58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4cd0e8dc-9c3e-454d-bf93-f4044fd5cebd phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d0f8b0d-ac84-4114-b0d8-2ac26fd8dbfb phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e28dda9-19c9-4950-9bba-9242e5f823dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7495802c-ad44-4979-9755-8decb5acbc23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b38f81f8-bc3a-4f6b-bec4-f3a8a2b665cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd86956b-0c3c-4518-b804-de64ddc1ec72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:298780e0-c8ee-4674-a809-7157b206e5e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cb1fc88-5bb3-49e5-ab0b-848e7a1660ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64e9091a-efed-455b-adbe-be9f024daeba phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:685f9048-29d3-4eac-8136-c4379d830468 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:088f446b-4d7c-4cef-a838-70c44a151083 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e30bef3f-6a93-4b59-bcf0-e91974b6c507 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83a4f018-541c-4816-9789-ec0b2eb65da6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffe8597d-e805-4bb2-94e4-d2da6b5e7554 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b2e557a-99f0-489a-a81b-040398a04a35 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ef6c8af-5f63-415c-b797-fa0267dab1cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4de584d1-5e34-40ec-9a5c-ac439ecffde9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:34b759a6-0872-4fc0-bc37-7b1e13e151d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:833216bd-7cb2-4f24-abd2-9ec33c01afe0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:20638a79-d85a-4e61-8554-8d1f2569b12d phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a33dd6b4-0b42-412a-a6c0-73170df42fd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3095d0ae-6a26-46d5-a535-041f2f2388bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:613b2dd1-88ca-45d4-ab6b-cee106534de3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3010e168-a413-4883-9023-7538e1b8dffd phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c34dcf4b-64ad-4ab2-bd13-0889fe383f74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cb3ba39c-2db3-4117-b641-2705719b796c phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c2ed8ce-750d-488a-99cf-291604a2c0ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8bce523-355b-4810-8897-23f5d91bd537 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8129429f-7289-46bc-82e4-130131de6dbf phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5053211a-c4ea-4d71-80b3-e990118c8de3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bf28e4e-4d14-40e2-bcaa-cd9ac40808a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:405d69fc-fb2d-42e9-bc53-dd86a1dc642f phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc9952f7-3dbc-4c63-a4b2-49aaaaddfa30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d65df847-6a31-4a0d-9441-1791420d9083 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d58e416-26f8-4921-9086-35b4522d4f44 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:009ab46b-61c1-471f-b1cd-77f7eea4d6ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e85be52-0e19-42af-8ba1-4521604763b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40f637a6-ff50-4c5a-aa0f-89110d27fcb5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc54caca-b2db-46b5-ae39-4226fdef6611 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c32a1100-c3bb-4a14-92b0-9a0148135226 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0580a4d2-609d-4570-9aa6-97e1aecb4088 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72afb512-4afd-4fec-a3b8-ef5e8a52866f phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cacd9fd-44f9-432a-959d-1a83d7aa2c99 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:063e46d3-b403-4ccf-8231-96c030f6fab3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe68b0a6-3be6-4101-bb46-21bf16005326 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f8e47dd-ee45-4f5e-86d7-ee05d02dc134 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d313c054-a9c5-4bd1-86bc-1ca78b9c908a phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c18df82d-86cc-4c5f-b52e-ebc067e33640 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87690ee3-7c28-4672-9b7a-9477fae9433f phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b01edd76-fe6d-4c9b-8a77-6ad409b514f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed6aba20-006c-4033-8d34-5a0c27fc9da9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98d1cbeb-46e1-4208-b108-330a039a9e30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed211b71-4452-4c5c-847f-3113a2f84e11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce19818a-9ad7-41e3-8fa5-33b32d5d9fad phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79c2d58a-fb54-4c55-a252-7359d4569d7e phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d24dac4-36bb-47eb-bc9a-c580c7249cf6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5abb67c1-f4dd-48c5-b2ec-d140d2d035b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d3b12f8-d32d-4d09-94e4-1fea86a7032d phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bec15655-1ffd-4155-9491-9cd063e3d957 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4eff30d9-c865-46b5-b150-7d140e3241e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7064378e-ccd5-4ddd-a222-1e7b1d184252 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7c1ef95-259f-4ace-997e-50df5883be09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:098b01d7-9860-4024-a988-0dafe12d0cea phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4094ca5f-d2a5-4c8e-9d11-95813d746ac5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93952a84-8751-4fa3-91a3-7f1e6fbc3d5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8495ada0-b877-460c-b4bf-b343d1648d56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:613f98e5-038e-4933-b298-45f8b4d0e892 phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:279006a5-4150-4e50-9c79-5df3d23582ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:98501036-cf80-47c2-ae60-439f3f23326f phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:699e5054-16e4-4711-ab7c-479bce9c93b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7693e15e-ebac-48ae-a03a-613086c2b7e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c6eaf609-88a1-44d0-b3a7-e515d0d85337 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:735d8978-c9bf-4029-96b6-d17d71bc5d58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:791472da-5d0d-42e7-ad1e-41d96a8362f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1cfc0938-e566-4aab-a778-169c9c85419b phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f51c3570-26c7-4ace-842d-fec90099e7ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:440e2b13-fea1-40af-afd6-81b5f4436042 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:345df32a-8765-4961-8828-dd02cc987889 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:80591309-340f-4fa4-aa0c-89bf9e6d1f2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6f149309-0b9c-4bc1-9ca0-c041ffca2811 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:73ce3b3b-5b2d-428d-8a5d-84465702edd7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0825f247-ca20-446f-8f06-c6a698591f13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1aeb43dd-45d4-42c4-8bcb-4449a5b251b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41ea778d-1d96-450e-bb6e-cc1ab7d8dd69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf7e639c-85cf-4280-9ace-61525058e139 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:855a8c71-5cf8-42fc-8862-31cd2770d56a phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bca6c3b-fd20-4434-8ec7-626ed6849e16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e681f9e5-7170-4927-a617-295805179fda phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76028ed1-0300-488c-a363-f314d73d1b86 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83d98457-533f-4010-9b62-3790bdc7fba8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6569eb5-865d-403c-ab6b-a59383d7ae4f phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98633fdb-c1eb-4fe4-82de-5a425cddef8c phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f96e7c3-4065-4f67-8614-562802ed50d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d74b9ee7-55db-4466-a308-42aec2f9d5d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f710843-4c4f-4b06-a864-1c1fefecfff0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f2914f6-33fc-4620-9e2c-6af0a974cc41 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81e3a914-72fc-42bb-b8c4-5eebc54f25ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:118b9dc3-0dd0-4149-b6a1-0b6a0d3cdbf7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:402bcca0-38e3-46d1-a8ef-71b0ad998571 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb500a2f-9abc-484d-9a3d-1fa4726e6f58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d6536ee-0505-490d-99dd-b50331c00e42 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3bfeab6-81ee-4a64-b220-7ce0cc673f77 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d2b3221-86f2-4c91-bbd9-30aa2fa0bf5f phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c6cc16fb-bd62-43cf-8240-caabebdfdad5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5533535a-a35e-4ed4-b8de-c7872c0fa117 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3cb6be5-adde-4c47-bec5-9d4c86c8b9bb phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:551d0594-559c-4d6c-a33d-91219d7a1c64 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee843a72-305e-4c52-9af8-6fb80344427e phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d61726e-724c-4785-8f73-9a408eda1de6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a4a125d-5ea4-4949-97a2-3cf9ca3d68b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e184eca5-9c38-425e-8c99-bc0dccd3a4db phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e86a838-7593-4297-8f6f-2609cc783928 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d8a567e-baed-4795-8410-0cac9113d626 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a043ff1-8f81-4613-90c7-ff494b5ad858 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36028779-eada-45ee-908f-602b53356a6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d2445c6-9972-4726-8a6a-b6db11d651cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eef38564-531f-4d3a-abab-471a04bfca90 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48d3dec3-a722-4c20-8d18-b31f9296ac80 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dabffc58-fdda-4934-b2b9-842023d6414f phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5eb4e04-a5bb-42dc-aab4-c29d6f3aeebe phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dab9ebe8-50b4-4784-9168-c222f5076e01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0cc3790d-acd8-41a0-b259-debd6464ce4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:95738f53-c019-4902-b6c0-d94b6f994f7e phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:34281269-8ccc-48f8-a408-41b5a2636d46 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:56989c9b-95a6-4c8f-bc91-005af11c9dc5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9bd4fc59-b3f1-4087-aef9-2827a0785c08 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a62f3a4e-77c0-4d7d-9436-9d41e596cc0c phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:08910c2e-7a62-4d3b-bf14-7131b316c9ea phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:99e1d8ac-52a3-4517-9761-95213c4e5b07 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecda5acf-7c6b-4e39-bb52-95f28fcf63a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b968521b-ac1c-4043-9226-e7d0f07d6cce phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0ada0bb-c658-4fce-946e-40e82a1ba322 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d57792c-97f4-4f51-8e50-98671c63842d phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6df3420b-3a93-400f-b93c-ea0a03aa548d phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c90bc152-7a8b-479f-9718-06e542a7dc4e phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ce8d4d7-7296-4d67-9bf7-a9dbf543c4cc phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:375f05d5-bf33-4d60-adfd-be2d545290e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:786ec5db-92ed-4dc6-9fcd-c301a7835655 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfa56f76-89fe-4f5a-9c1c-b031d7ed88d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5552518-03dd-4779-8135-32b73a1798bf phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad502bbc-9dcf-4383-b6d7-911ce5c6a974 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfd1bda3-94cf-4e8a-9a13-4ffd115c034e phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd5acd0b-3b8f-486d-8770-23d7d6b5dc88 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:251f2dee-c59c-4455-8a38-2ea6baf34e49 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8431bb3f-5168-459f-9f50-7ba7c22f0cef phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b58891de-ac89-4eba-b5bc-67868ec916e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a6dca8ed-9db3-4cbc-a754-7af905a954a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f37ddcc3-fac2-4b1e-8915-096145e1d08e phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f549102-216a-4586-a7b3-9356c284277d phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85ae2235-43b7-4843-abb2-52dfa5c037ff phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8165265-331d-46e0-a557-fdf32b8b92f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28abf40f-fe16-4a87-9924-0f99fc535bd2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5b72b51-3bc8-4425-8036-5a86cd556c94 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe102116-304a-4d14-8d18-89c66382607b phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f9d369c0-0a6e-4c24-b8bc-e3aa4a84f702 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90a35a43-78a0-4108-a322-334d7ecfd2e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b43be9c-b4e4-46a9-a88d-181b4a92dbb5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f03a1d70-a49a-4399-88f0-ce7e0e860eb7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a86225c9-77f1-4fc8-b7fd-ae864a9182c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2373be7-9064-434f-a548-ca2ff953fbb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf842cc2-7070-40e4-bc80-8627ab2bd178 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4a11995-eaf0-49a5-a9a8-d72f9fb44bdc phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fa42d4c-84d2-450b-af55-af2e42c0cd74 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3832f86-a1d6-4213-8eda-917c242183d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3dbec1ac-fd7a-4900-858e-497f96286aaf phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f718d316-a6f3-4c5a-97ad-abf09d6765a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9514fbef-7b10-4e19-b289-65a9f0a70726 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cbb38c8-055c-415b-aa08-1803a4e5a0e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3594d99-c4ce-4344-8575-a78d99b73ed8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3792d1a2-63c7-441d-b1f2-0eb13e4bcc27 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f2624624-67aa-4bad-8eca-15196ddc2cd7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3264b68f-69a4-4d92-a6e3-57f348a9c031 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba5ef054-f2aa-4512-9814-04c9b3ddaae8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ea3782f7-1393-40a3-b732-2065a179f91b phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b2e1cd9e-f83d-412d-929c-64d077d253d9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:06f454bc-d216-482d-ad35-5d69810cd6fc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ff500659-5b09-47bd-9f88-defc05c0721b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:111c60ef-edbb-4b1e-bcf0-0b16d8fb9f9e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9af91402-609e-4955-a80d-6f3f6448bb59 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6facc86f-714b-4f23-a55d-64ae927b8550 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b794e32-6f29-4995-ab75-098f15a8c186 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c7432c7-2b38-453a-9caf-3361c0dbc49c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b79d58a-dae7-43b0-97a5-545ecd8a5453 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa9166b8-9f65-45c7-a39d-44f381dc6ea1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44183441-f8c1-4a66-981e-f83b42fbca42 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b5737d6-abf6-4481-92a4-dc5d98a509d8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c14fada-62cb-4d2f-9966-8f6369f7797e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f98764c-c0ab-4bfe-a1e3-35ac2b37149f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abff280b-64b1-4ea7-9d54-9147e4ed39c3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:745a6593-47aa-4f1d-b6f5-9bda6f1de03f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47faad4c-bb2c-40b7-927d-f485c4e08c14 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20a719d7-e762-4610-bc24-22dcb1fd3d0c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd5928dc-cce7-4f97-bce0-df7a01218e7d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d75ef6fd-3f06-4ec5-98ba-f43f55e58252 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a20a354b-89fb-4360-8cf8-b3270c5ee156 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1efbb337-d09a-4bbd-aef9-ce5b934843f8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77722fe3-d293-4810-abec-e02ff5e5865a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33396d3c-6267-4187-bd3a-4fc65e757e05 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf4db8f9-a0d5-4b73-84e1-0f39314485f1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e946a02c-0a3f-46c8-82f0-379b733d4c37 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22867097-eb4c-4ab3-8060-bfa40ddf22d0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c65dbb51-60b9-407e-989c-86394e40b238 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a234e2e-0f66-4f72-ab40-0f2bb34430c7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4eee00cf-3a00-42d8-81c2-97b09e9ae6ea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5272f43-e159-413f-b329-10547615ab0b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c399bc35-6f6c-4801-b9ac-13940231d99f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b50dd913-17e4-4e81-9545-12c46acac426 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35b8711d-fa86-4118-84f3-b64ab7ac40b4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c7c414c-ec9a-4da1-9e59-08a877e7fd03 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04a6d135-bf41-46d8-94b3-af9cd7601a39 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:550efa92-5c22-4ffc-a0a3-5414cfd4a93b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77007dd4-50e9-4adb-a845-1594400381ea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b65f2a2a-99e0-45bc-b816-445005b31e7e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9957f6a0-45c8-4c95-b334-b9c15eb6bfe2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0346ee61-92c2-4fc1-9cc6-20ce3327640e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9d4d54a-8d80-4b91-93ad-6e94be13562c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5d449bc-09cd-4045-99ff-b4e219363a22 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78e63bd1-7929-4cb1-bc97-119eda5b0781 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3478e795-4d81-4231-accf-3b24bbd53863 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2f915b8-49f9-414b-8bac-8c16878fc2da phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c090f003-d6a5-4e88-92d3-611a429dac32 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:64900f35-75e5-4ee6-8ff6-20bdd7a4efc4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2ee1a106-9e02-4e89-aea3-42902af1c5cc phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:87d4bc5d-d0ef-44ee-9ec9-3f94f2a26a7e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6517f74f-3f36-4e12-9a98-3afe353ceb11 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7346a748-2478-435b-8945-8078b823b213 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:51925426-8f51-4faf-ada5-39a2f33778c8 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:debb8aa8-130c-4791-8ed5-ec5214369b5b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fbe169f-2a77-4934-b5d2-d85eabef7fb4 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7889ec9-fa0f-44c6-8415-adadacbb232d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:350c543a-996d-4587-acec-91f3d8c8bf33 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfbdd6c8-2b6c-4b09-83b4-66bdd619b605 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:682be219-518f-4b1e-9029-cda9d3d33b33 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5e2f47c-059d-4b1c-ba70-d329d4e46cd1 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f7bee3d-69ca-47ac-a692-1c0d3ef16a03 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:770db6c2-23ac-4bbc-a704-fe2e8a38ca4c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac8a95a3-b75d-4a47-b523-d76204b55427 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c269ed7-8187-44fb-92ca-0b95ed135286 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9e55894-122b-48aa-b02c-a83853f29cb0 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea77113c-9e36-4f77-a69f-b3db5c63deb7 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9bfb84ff-6a0a-4f7b-a6ea-bf47265ed57f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:306ab7cd-c475-42a9-955d-db44c798dee1 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ccc440d-d2d6-4137-94f8-2b4288cc141e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77e12a0f-13d7-43b2-b396-a6896ceb1281 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3c63770-1062-46ea-a62f-55a0eb7822bf phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b47b3de-4291-433d-b035-088625498867 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:158d0876-89fb-443d-bb64-64a9071f6896 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b428419b-eb49-43d0-9035-7c5c442335e6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cdecf87-7a0d-4f24-ad17-f86896b2c942 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26bdd9e4-5a90-4c5a-881c-33d5dcde46c1 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22907864-a6c0-46fa-bde6-1759c8c52bf2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db24b7fd-e179-442f-b416-ea2007e27fff phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3170c166-248a-4920-817c-90e246ae04dc phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d739e8f-ac78-4bb3-a226-352cf2daaeca phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc47ddd6-90e9-4cba-b328-97e54eb1525f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:009f74e5-6efd-4250-ad62-323d04b7483c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:356120b9-4295-40d0-8214-c1f5634d4c86 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:461c0a15-e832-48f3-a752-95399c4091c4 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:343c1511-f355-41f0-8bf9-f87dcb446138 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65143bbc-6cc0-43bb-a8f1-34ba689c9e5b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b33696a-42b5-4d30-a3fc-29d7c1e61bf7 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3ffcf4c-773b-43a6-9874-c433fbb0724c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:616c1bc2-8a47-4cb6-8eda-3b43ec7e6c12 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a05270d4-cb03-48f4-810e-e323a3460520 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28b61bdc-38a8-4321-83d0-793db7c1a1e7 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6fc05abb-5b57-43c7-b823-0f44ccdf2bed phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f5ca770-ae02-4da3-837a-d1d2fddc3bb2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:867649c9-e9b2-4547-b4df-bd9a0f9deaef phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20890ccc-f198-4142-bb61-25cf574df3f0 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:199655da-9346-49ef-93b5-d5cf2983aabb phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ec77ee7-7cb3-4bdf-b053-dbe9cdf3f331 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e9f08c03-1410-4f58-bedf-3e2174cffda0 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8052d768-b3c5-42f0-853f-6c44024e2039 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:57a6426f-aee8-461e-8b46-74573347edd3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0730174f-7bdb-41f9-9f03-b16c6a1e9dc4 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:239ff581-2c0f-4d27-8b09-c35874fb5643 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:854dc467-5b60-41ea-8c29-233f11892a87 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:78e46690-64b2-4d07-8f04-236377fd3161 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a6fc5493-c5f3-4eda-a1b0-5b00f864cd29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:aa66ac0d-25ca-4400-8ea4-18abc98a3142 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:825e0186-52b2-4d2e-a871-6c82db4f7b45 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ade2c85a-3e0f-4c96-9567-6a50bd35fe58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f53a0e9d-859f-43f0-b4e7-6651f254a199 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28e16a16-789c-4940-99cf-8a7ceb9abd32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf1a1b97-6296-4585-a613-ef354bad96d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ea9eb12-7cd7-47f9-b8f9-fc4a9f5f23af phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:152864f7-5547-4df2-ac8b-15d31362136e phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a76ccfba-83ab-4897-ab0b-cafed804dd8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b1c2b857-97f1-43cd-b512-daeed7b89b77 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10eb5552-763f-4605-9583-5b8fcbf63b40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2eeac6f-8cc0-43b0-b566-946b9cd3442a phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56e22a99-731e-4da9-84e6-a5ba99409832 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0029168e-b0e5-40f5-be9c-8ca172acebd7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02ee191a-9d91-4a34-b435-2fa9868e520e phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18265efa-1f68-452e-9eaa-33c0a349cd12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b93ef14a-7400-48ee-b776-19160ca77440 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36af8b52-9f5e-432f-9c89-916d02b2ceae phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec562866-6344-4000-b87a-778ebcb47ed3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e61b503-021d-4a65-9691-001f09f02fb2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:401b351b-f630-40ea-a100-5f197e53d884 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e56e3db-9bed-4f5e-9946-93035ac0b79a phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71ed9301-3cc6-432b-b096-43d4a20e8c74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4acd3cc9-db20-4303-b710-9a2175cb8f2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22eee78a-e382-4c3a-93b0-5142e4f43e05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee2d74fb-66b0-42cf-a471-2947a80f7d6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04df2a47-5038-4a8b-bd6b-dfaf50c1898e phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:15ea8b42-e4cb-4b86-ad4e-ca2849772c22 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11b56d35-cb9a-4c9d-995a-da69537ba143 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c3e9902-a689-421e-95ce-25c88000da76 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:036b38bb-ef0f-4394-8237-4e1fc459b56b phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:619d69db-95d5-48ac-8af4-9347dae2db31 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e87d46b6-9fb9-4b9f-b98e-39533f18e846 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4387409b-5949-4edc-b6cc-8410d8275ad0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41611b06-af02-4fbe-a935-41131b82e624 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a74d2d52-d423-41b2-af58-ee60771a5630 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d11faf2-bcdf-47fd-985e-bd80a1b1de70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02282ebb-bb1c-4b60-9be3-6ba4896ba123 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2a859b6-a3df-42fe-8376-c1a766f32fcb phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6b5fdc5-e78c-4c5d-88b7-43a93dd29746 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:965f80c5-5d83-4abd-9c41-7a8dd60d23af phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7dd7015a-513e-4470-969e-22905ce40a71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:78bd81bf-08b3-4c3f-9925-0cfd09360d4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4cffb7ab-5f4c-41ea-bc42-7912fe9943df phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1c73e275-dd2e-442b-a6cf-6bfeb846ad3f phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6a0f671e-a43a-4bad-8e1f-00ab87a6feaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:13548a78-d620-4b4e-9d1a-7d3e6090e032 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0f897f48-7ef3-4b87-82da-43d34632dc8d phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4e840a56-ed63-43aa-bc84-d2904a8a3801 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0ca7e14c-01db-46ac-9bce-87a81af391e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:949247ad-b46e-48e0-b930-dda1f1a5930b phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:36ff10b5-3a76-4939-9148-4f34a824d3ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a5bb95b9-a093-40a3-812d-2d6804f8ab6c phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e9729f76-ce1a-4002-b2d5-ebe744c3fa85 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2470d691-c486-4b9f-bea5-e44d13b6a0d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7f0d69e-85e6-4d74-b691-29eeec1d5f12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:07599425-db7c-4467-bea9-4cb0ee300807 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c02c6767-549e-4b2a-ace3-c6637e44a86e phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cdfd8feb-0ae4-4bc0-be16-bc0440a68e32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3edddbc-7a7b-4965-870f-a5c36b0fc55b phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dff4d476-49b9-47e5-a8e7-0d23b3b9aa7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a562f62c-c304-4cdc-b299-0189a791014d phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c8c0ffd-a1b5-45ef-9f0c-822a99cbd67b phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f586bc64-9fdb-459f-b55b-4aca968e3783 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0db86bc1-1851-451a-a2c7-ffe8ce3c3494 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0491dd06-b3aa-4ba7-9371-aec063aa6194 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7474470e-a9e7-4300-8249-c769b9bdb8fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77501fcf-a3e1-49c4-81c1-b42aa49d84de phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d98297b-c64c-4744-8470-d945d6500340 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c1bc01b-8398-4578-883a-43b782f8b777 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9dbd8c0e-9ba1-44f9-b680-e5dfa48c5179 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b1e9d20-16a8-4a0b-80bd-b63b2a5c5220 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0acb95c3-94f3-4f1c-955f-6cf662a5e1a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:684f4dec-321b-4d17-8550-a458b9804f77 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca67b909-0994-4924-ad49-92bb5316133f phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bf0d649-b675-490d-b907-06d24be640a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:520cb2e5-1890-4747-bb84-e5552def6776 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80591a8b-ac0b-47b2-8d5e-63522af6dff5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a32542c5-1527-4cc8-8aa1-b02015add53c phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f967f46c-6e4f-4b24-bf67-c5b7cad006c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2af7504-72a5-497b-ad76-a7d9303ae9ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb5c56a4-9d1f-481f-a10a-b71f62bb9a29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83068cd7-2f41-442d-903b-fdfb6a6415b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b89e5e97-aed0-4150-9206-11d4f223a64e phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46b49a1f-7c08-42b0-a1ea-597e09f00baa phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1fb61a8e-570d-4525-aa61-07102c5acdfd phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01178a2b-800d-4bdc-9d9c-a7afb09e7c48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5cd0ff6c-a4c7-413d-8cad-7d8f8b2c0f82 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c780a25d-a735-420f-a322-5161f6432e1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0266724c-eb21-480d-9b64-ebfb3393c307 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:008fdf58-d7a7-4672-9c89-fa73974bb304 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b370bef-d4b9-4466-b6be-113806b88932 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:783e71a6-e4c1-41a8-86bb-cbf3d09f86ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba080a39-e576-4b38-85e7-4f39e731b0b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:270a2eec-dfe0-4304-8d81-c64e2a842845 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:aea2f451-29f2-4110-8120-8d3feb602ad0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f671e032-98a7-49ad-ab3b-274f3e30c395 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:29afb262-a514-44fa-84ab-269f6c5a1029 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0635765e-088e-41f5-9995-7f27484249ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e3439bce-9661-4655-8b06-15d5f82cd4a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5941795c-5919-4f1a-9344-649b83119229 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dde0e035-0161-4c25-bc2b-4cf6865cb3d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2e99931e-bc2a-4e4f-ac72-407af777d1bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:00961787-9790-4e8e-a814-6151c7a34b45 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3af9f63e-c0b8-4a18-b431-f5922b93b4cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bd85ec50-2158-4edf-a73d-2e7d4222f724 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5869edd3-05fa-489a-affc-15a7b3204e7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:be147bd7-22fd-4508-8f20-04069dc04c71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:80147925-e4a2-4eed-8b3a-8514c5d9c47b phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:616b24f5-8ed4-417a-967a-3b2604df33c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e19ef59-35ac-4eba-aca1-70ff09ce7be0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:827564ac-1513-45fe-96a7-8818241e7be6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32e52134-035d-43ed-8dff-14914a45bcaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c06ffdd-96b4-4534-a8ed-05384c6a58f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:23fff5de-bcf6-4f57-b85e-512067362b85 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4754d2d-8e77-484d-9b80-1d1c02bf1b7f phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01b9c0d4-0768-47c9-b067-35fe523b6221 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f5981a1-8ffe-41d6-9ca6-bba6201e04ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5fe15c53-da58-4c25-9d9d-4343c94dc8a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:23cc6df1-7bbc-45c4-b784-f3493ad0aea3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:051c71f5-bb24-4f44-bcd8-5e007e480b1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22b6ee12-9408-482b-adb3-0bd4f7ee5634 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2caed8d-865b-4f35-aebd-e806ce5713ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:024056a5-4fa5-4f41-bc1c-bd2eb8bb64ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0af7a2e-fa5f-4eaa-991a-6d8269ba6e30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:482c71be-2bdf-4c59-95f0-beec11d1f4aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c5de9bd-4d59-49aa-901a-4add33493cc1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7276e52b-6dd5-4f23-a760-32a84f4bcc1b phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e0516e64-29d9-4ad8-bde1-810e52dff6e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09857100-de20-4edd-ac24-588e412dfb48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b139ecd-a4bf-4a6c-95d7-658aca2d6d2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b15753e7-16a6-490d-a855-cf7c287dbea8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02f85561-ac25-475e-9c06-3ec0f6363267 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5335c9f-401a-469a-9591-023de9ad35d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:348b8749-c624-4e63-9a30-d098d5e784b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d8b20bf-7566-4a97-a120-4e2ee474e382 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ee3801c-ef91-4e90-8941-dbfae4aa2159 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68be4230-d296-4ef5-a977-8b506c2a7d31 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8098626a-75b7-4047-b67b-d20d7d1b2b95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe1060fa-6be3-4993-9e25-0012a4469785 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec6bdac9-c555-4ee0-8694-9f4dc84b66ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb03aec5-359e-45ed-b663-0ca796bbe102 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7597d543-a6ab-4a15-b687-5edf1c6e98af phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:817d6c89-7158-45ed-979a-4a9ecdb44573 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30f2332a-5001-4446-991c-109deaae927a phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:067a68cd-2198-4c57-9741-70741256c331 phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c561ebb6-fb24-46fd-80db-5f48f919529f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bb85b5b7-a8a4-4522-b5a5-ebd62aed8e73 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b1ba9527-0455-4c7b-b4a7-922791ff0a92 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4e28abc8-9b85-4f69-99dc-91dd0181ee5a phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:392cd96e-10ce-4eb5-8d59-28c257da0b72 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e3b33892-addc-447b-ae37-90e13d88c1d4 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:65522964-a265-4427-a92d-d82665c49c26 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9756cadf-32d3-4279-8889-7182c3d5ff64 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0beceb8a-2cb8-4f0c-9fd0-40b89389aafe phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8c2b0c6b-5744-4842-8534-569d9cce0eb6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1dba8790-309d-4871-bffd-8e03ee7c1e9d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2273d406-2ed7-4149-9533-2b0d3a61dc2b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ca21f6d-f6de-4d49-9706-6a47d57374a6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f84f3627-fc4c-4e1c-8cee-710d2eaa4088 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0321347b-5bd5-4227-9264-3523327100d9 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cf6b7bb-ebec-47d9-8ca2-7ec51e91c900 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a3220b2-7a65-45ec-89b1-185e87d0c0fd phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aaec5b28-e3f7-4f3f-b6c0-7a75d7be9f6c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e894b90-a692-48b0-993c-69dd27196b76 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c35d98d-f3b2-4cc6-896e-b834c7f97970 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87cede52-ed2f-49e3-ad67-db5d84a75da2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f43cc460-7410-4643-92c1-338039504bcb phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05dd2398-25ad-496b-a6e4-20bf6ac2b840 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd808d86-1232-422a-8457-690b40a2e185 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f5c40a0-0653-432f-9633-642292873ac8 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d0104ef-38a6-4775-999d-1f150367100c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71bc8ef2-0005-4479-a2f9-62592dc5e830 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37e1c0cc-1f35-4089-98a7-939197b97d5a phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ffd5aad-99e0-4aa4-8139-e7bbdc6ab09d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae6db550-526b-419f-9e36-ccb67fce1128 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c49a1d4b-ea63-4b5b-975c-7b643be648a6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19a7cf83-bd9a-49c9-ab5d-fb5de283865e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bfd5a56-7677-4f64-93ca-af2829db3126 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d131c82-aa20-4d76-9ff7-82952ed97b7c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e8e0f74-dfb5-46be-89c0-75ffe4730f3b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbb93926-bdf3-44c0-9c91-48c36b0575ac phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19db1ea3-6819-4199-a1e9-52e19397af57 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1bb0adfb-4f99-45d3-b544-eff620868c71 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b068257-0ef9-42f1-b386-13fdf71c4bca phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b0aa54b-0ed0-4616-8c33-10db909d4349 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:706b8433-5520-463d-97c1-9dff6851aaa5 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1430b9ed-0a43-48ff-a955-7cd867e2f144 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95d80f6b-6c1f-4aee-8c35-6e3156410e9b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e29995ac-09e2-40e9-bf2b-e98a8c49d9ad phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da7b8ebb-6522-4f7c-afc2-b6d393a34b70 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:32f21a2a-8ece-4900-a007-a525b34c654b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:95455656-f317-49ee-be9c-02eadb84e3b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7d73c0b4-61ab-4225-bc73-8e5e7f9f82cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9040cc9c-4c0f-4bf1-8bf2-9893ee6df966 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:137eb5bf-9feb-49ff-a8bd-24d5790e7ad5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6eb545a3-17c0-42ad-9c3c-fede99d14b35 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:572f95d7-d797-4d10-ab27-f0d0ec7ed211 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:612aa996-8fb0-4b68-896a-6a74f12148a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d84d5393-4166-44c9-9ca3-e30ef7886cbc phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c2bc06a0-62c1-4950-961a-c5b15a3373de phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5f7400f3-c6eb-4a34-9cae-0063323e96d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7d5b9b08-c678-4939-b506-1fbda56ea76b phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad2a8110-7a41-4dcf-af65-0fdc30bb5ac7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01c5f6bd-ea7d-41c1-b82c-fb7c2f30934c phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f357df34-36fc-4c78-bf01-2507f21335b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f97893c6-e245-4e11-8000-f9155362939b phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5a05f39-ed58-4853-9de6-5f89db02ebb2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d11a630c-f472-4da0-99d7-3d60efc18a97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99e7b99d-7399-492d-bb2c-0713733d3b78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21c02001-6d53-4dd5-ba3f-7a0ee9b03178 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e764230-5bbe-4309-ae7e-d0890ed4053d phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4ab5970-9657-4279-a43e-90778aa7efde phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1f999ae-960f-48d9-9b38-6893c9cc9598 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1823794e-7c45-4b59-ade4-d8f6832cf36d phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a4d7751-99b2-459a-b38c-e3ab17314ffd phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd2c0284-01db-4f9e-8de2-7583b8a618f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfd337f4-ed2d-4d28-94c5-069b9250c21b phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41320963-6692-4720-9481-eb35b018f73e phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c01bf092-dab1-4f13-b9c4-27f3707f3000 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d222723-fd10-4225-9a5e-0d7c111d2df2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ef96425-3522-46db-84a6-250a3408537e phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abccdba4-ea38-43a5-8ad1-a95b3b7f53ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:534967dc-8602-4f90-9f81-d1636f6103ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac073244-62b1-4ac1-baf4-943d42f4fcc2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:51abeb5f-3cc2-4b15-b2f1-5d9fe2740c3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a71d76e-0a4e-4e7f-af8e-3c7e203c1cf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3b8af51-d69b-4898-bcde-35cc210b8aea phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:618a8d83-0895-440d-bcb6-f98b1ee62f9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4860959-4258-4482-b5e7-aeb45c3c1491 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2880476-3ec3-465e-af6a-e441603f992b phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:accc721d-5a43-4b64-8f3a-7c92ebd85db6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35e73912-4a32-49c8-89de-5ace29ba4600 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e06e34f-9dff-48ae-9f8b-e9b1af7ae28b phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd89a780-1edd-43ff-baeb-eed5a30d8270 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc57532d-8579-45b6-ba16-7c6bd6f995d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a647019f-cac4-45f1-b478-ec03f883e92b phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:540d59e6-043a-4a0a-9d30-46854de53917 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b031ca3-e453-408b-bb07-9e2f6a7c130c phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9003398-c841-4777-aba4-9fdef32edd46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32a3f329-7092-41c0-8e95-be92ff4981f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39dc9877-19e3-40f2-b780-64bba13cab54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:531c39ea-c6af-4a5f-8783-ae380826806e phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f251913c-ab31-4df4-ab42-8f554dea85b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:543f2819-2d04-4ca6-89b7-e856a2e4fc10 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c6253f38-fb34-41c3-ad82-2e513bb8e1c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:794696fc-ca37-4423-a940-c5273c27d5cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fef5f791-8aae-48c9-90f7-778329af41bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e57753fb-b1fa-453b-a9af-15435a3886a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e82eb8d-9882-471e-a46b-2d67bd95fd89 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a542fb32-6b72-4850-a549-986da46f3392 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6e91ab7-506d-454d-8a8f-da40f93d38ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb5af708-f1d0-42ea-a4e8-12334a232664 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cbdd5d8-172e-45ec-8e8e-7ae773957160 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:203af4c2-7c90-405e-b67b-2939cf4d0bb8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e1e7254-1ec9-43ae-871d-e24d519a76fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dca492ba-34b8-4dc8-94a8-1b6c4d1e9f0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40649e4c-3ff9-4403-9f65-20e05c85cfd3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67ff2d1b-1f93-4eb9-b807-ef0064f076cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0f6fd5d-aaf3-4ed6-a31c-468b014769ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e594cb5-e7ce-410f-a577-91ed8dd4bb40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0315334-7e2f-4f64-ba48-3a1b5c66f354 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:014f7e9d-6e0a-4a8c-8b6b-6cf44f68d070 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de63d151-1865-4856-b75f-bed028868ea8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b506385-2027-413e-bd5c-a62249797201 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c20201d-9ac3-4412-8d48-ab20abff8061 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4da84631-54c9-4dc4-abcf-a737a70f4227 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f25d68c5-172b-4cfb-8185-c87c4bb40b78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64958c2b-e4e2-4bfb-b4f5-f9c5935af324 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68ba375c-73cc-49e8-b0ac-c2d7b26acbb5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8661472d-b76d-4173-a36a-6cb5e499e41f phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7965e82-3826-4d34-852c-ae791ca17f66 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af1e8884-0819-4a68-9b88-cb06ed48517e phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfe33338-d0d6-4235-88e1-4bfa4152f688 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:555c5a60-910e-4b9f-b131-30b3270b197f phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:863634cd-5d68-4ed8-95e7-d8d009de90d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afdd3cc9-c1a9-4c6f-9cc8-c5acee379361 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4a52141-ee52-4f8a-a830-4696f662a16e phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a12cfac4-711a-483b-a0be-6b878d09a657 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1ae60be-8bbf-483e-b3a6-3edda34af02a phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a570249-8b40-45f8-83c3-5c8e91eb7270 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b5474e4-b698-4cf8-8b78-e7c106c3eaf9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d418190-b175-40d4-a353-fa74b91d4b57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f7d1c26-9eac-4e5b-929d-9b35756f0437 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7ac0ada-9578-42cb-9088-9552dc485d67 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:702db633-cfcd-4b11-a08f-6bebe368e3ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7075c40-1d95-43d6-8135-98e276c67dce phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3057ff74-9a69-4a46-8b7f-84640e737b33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46100305-66b1-4cf9-96d0-8514b67b7a9f phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b66d61c1-b51c-4eaa-a06f-cac3e0f2a18d phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63f37282-62f8-4037-8cbc-78377e529636 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79b7f742-08b5-4be7-b420-77f012713ef9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f3d64e20-59eb-4074-bfa9-c74c5f786771 phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4b67158e-b772-4af1-bb28-fca6138ab442 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d7556c49-f624-4c35-ad3c-a563c2ceac1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6e141f56-9842-4f4f-89ba-15c906e22a7e phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:697ced2e-84c9-420c-bf96-34b0641e1f94 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1bb9dcfa-adb3-4367-bd70-453df1267900 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c3d5370e-5b40-4652-a6e9-89b59afc747a phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:efc611ee-8cb1-4361-aac8-f771ba538f76 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:209e4210-a0a6-4beb-9b59-c298ecaf733e phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:596ad0f3-336f-4616-b40d-f9fa04fc3abb phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9dd26b6f-720a-4e51-9c94-3cbfdb1055f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0cc00c2-7dca-49be-955c-77dd7c4bc6df phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01cf9d34-4a26-4e7d-a6cf-f4825c241928 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da31349e-ac63-419e-bcc5-1cc84fd4e3f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce8e1e2c-4cd9-4193-9a37-88eaeee7cfca phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf2324dc-8ace-4700-bc69-718747f8dd2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e43d7d9-3954-44c7-9b3e-3fecc55d2b9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2b5579d-ca8a-4241-856e-829315df5d06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65285c1f-4af6-411b-b411-980410404add phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b516e74-6e84-46c7-9202-97133641d6a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b65f5403-0f77-46c9-88ff-e5969fb1114e phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37bd8dbd-359f-4317-b09c-56f9c7a48825 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b53557a-3182-4ff7-9385-7ed2a8e6e335 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd8ba261-fb6a-4c5b-b9b9-53048e48fba0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7e1efc9-789c-4beb-baa0-d4bb2a39f6f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a962e894-a0a5-47d6-8e79-9748de5f3864 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd897e52-5539-4aca-aa6c-ca85bf431e97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2a76831-84ac-4f44-a701-537e31266ce3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0158703d-0090-4d2f-b7ee-96cdce5b224c phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4742ae4b-ff14-4c62-9197-312fdb92e3b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85da0cdb-f5eb-43f9-b86f-bc0fd86bfeeb phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d858100e-a712-4acc-a4ae-90b16e580238 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e166701f-c015-4658-9360-d27b6696693d phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b35cf89-0bdd-4da4-bf6b-8bef48eb3188 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50b0d323-6e75-430d-a4d5-ebb5b335c79c phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5eab3e50-6b1c-427f-bbd2-25f8e0ec47ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63ff61b0-0871-4d75-9b70-30a7f716c6bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1cdb4243-78e0-46ba-b02d-88277727ee3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9b51e53e-970f-40e5-85c5-cf43f2e2f182 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:119e38b4-848a-4777-8589-31205d90f696 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ddfe355b-c1f0-4e2e-bf55-a7306346d673 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60297a9f-4cd3-4b4f-a1e9-aebd0d6e8186 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9215d4f8-08b7-4368-a63d-2c89b294f56e phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13e9a6ef-2e55-4ab0-a467-fafca43c6176 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3d0c3f6-8a52-49cf-9f0e-b596dee55c6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f3927ce-5276-4e27-9133-f549c3d0b30c phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bff4aba-792b-4a95-9b17-7e53636aa0e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd513c7c-7db3-4301-bf6f-c5057cc351bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc1b96e5-2215-4f87-a1e7-147fab7079f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:9dfedd75-32da-4fdb-a7ca-0e8ce0a70c62 phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b6b7ef12-d26c-4894-80d7-afb8b783bea9 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1c0ee0c3-fea7-46b9-a3e4-636128601492 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:76e13820-c76d-410d-bb6f-f8df86c1002e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6ce3db4d-7dd3-44c0-bb5a-6d0faf304a4f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a8d83bbc-967a-45d7-9a02-2b60705485f3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:16957b1f-575f-439a-8ea5-fd4ad1c2c146 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f2da2a44-7e53-4d8c-ad25-d9809710b6cb phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ee1a6507-d16d-42ff-bfb5-3a5eb87eca97 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:960870cf-1450-4bbe-8b16-772da0b01393 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ef8f699-c108-47ee-ada4-63c772eb3c19 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c5793c2-ea30-4fc8-9fcb-6a52e6731eed phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f772ac4-95e4-4cc4-b879-4a69b13c0a7d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c6d02f4-538f-405c-85df-15dc3e6f4da3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef0ad388-9634-419d-ba41-999835a0f8d3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b6d8f88a-5117-4718-b59c-c37b48a92e3b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cff25302-6819-4421-a7f0-b469ba8092e3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff71efde-f1e6-4e6f-9084-454fcd8bf9c3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5853884-a40e-4c7f-b15b-27065c8d1804 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:506d4b41-c226-499c-8f05-62208895a008 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d81023e2-a57d-433b-aabe-fef440533a80 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05d5741a-4136-4e2d-90a6-84c58d3fbd17 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9dc2a42-a4f5-4c87-ba33-eac12fe17208 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65d99d31-4f9f-45b1-95f3-87c7f3ca54de phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10f5968d-1fe8-46ab-acf0-556d79d0cf9f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef092a7c-dc5e-45e8-a332-fe36b305e0c3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87613c24-44f1-441b-b5ea-b2357fa0e80e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8f67ae9-e7f2-4024-90ea-2f76515a75a2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fecffae0-d6f1-4f6e-95a0-31903d17b219 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80f96d4f-0bea-4441-a4d1-999e6afbe47d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50a74912-0233-41e4-b652-3dc5fefb70e6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:444d1286-b1e8-4fd6-9729-ee0d6cf9c1bf phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:573c7efd-25bb-4ba3-819d-d0b09942a17c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c8dbeb1-1152-4702-97af-a90263bdd2a8 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0ea0569-2e3d-41dc-b0e2-5317aab03b41 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2dd6945-9a61-4bb6-a0ee-fb96744be5d5 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cfa1d335-b80c-418f-a7a4-f8c784431ce0 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d70c581-206a-4b2d-a475-1720cdfce2dc phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01102248-f934-4f74-9179-552c97d6f43d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70be40bd-0ab1-4a1e-a482-7774557dfb82 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7f871c8-439b-40af-83e2-181ed08d1150 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df10df77-623d-40c6-ad48-d70840962308 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e39c9299-dca3-4676-a980-935a0dab9266 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e404502e-8b62-4e59-93ee-21d2dd31e533 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e2d088e-d5a8-4fef-b61f-82b422c5333e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60719829-0e9b-4c72-b361-fbd88fd6dd48 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17b549be-68b4-41d6-8dcc-63c54e1aa561 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e21a45b8-5c72-40d9-a4b2-f49929ad7161 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:374357e4-7abf-40cb-aec7-637e803886b2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c86f98bb-afee-4095-98c0-d9bbe7ccd724 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33a92cee-449a-4ff8-91e7-09e9e4760498 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c0afc3ee-3d7b-4868-9fb8-e84b3d2368e3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2e5b2141-5af9-4e73-adc1-1bc74dfce2ae phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c3432b7f-0ac8-4fab-b767-933e89d64bf3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:52d16463-3f1b-42ad-8239-0a001c12a8bb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f7f5de74-ccd4-4204-ac72-6853dfb92b72 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8f196e3e-5e3d-462b-b1f3-7058c491f575 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1ec50a89-cdc9-4e08-9369-7e4165ef4e3a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:866b2ab0-f9f5-4718-9c50-c2f20a1bc1a3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8eb5a6dd-2591-4e6f-8569-d9f435295219 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b58150c8-66f1-45ac-af8a-7ecf7f529339 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea3eb4ea-332f-4165-ac52-7bf87bc73b8e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab0004f6-c17a-496a-9580-3817b0e1abda phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c43190a-96c7-47c6-b85d-2f2483d11d3e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ed682a9-0621-439c-8c8c-164f7fb87330 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:575ad7a9-f288-4eed-938d-efff0e250680 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:320c9fbd-77e8-45ea-bcec-32f151840e93 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f818192f-b2bc-493e-9ff0-0963ea82c336 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76ba86d4-9b0b-4d1d-8595-d3d12dcd7812 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba81fd22-295d-4a22-ae13-e3a1ab59b603 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0b2d00d-6018-4b85-b840-f1647d1f1303 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5f9376a-ab0d-4ad0-9107-af038507e642 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44ab63e2-228d-4a6e-889c-90330282f321 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:970bece7-297c-426e-8478-c8e78fe677dd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a052eff7-5149-4190-9302-cedc64ce4603 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d3164c7-5c69-45c0-a68a-def4a5d39b0c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8084d8d5-39dc-4a1b-bdc1-77a92d650c6d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2493f4cc-fb6c-40e5-bac6-8a642669ee52 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8eaee9cf-9a58-4740-a731-e5517375ad9d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3d78675-c356-4411-b853-da49c2854d56 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b6c28818-8478-4ab1-9ff7-abaa39630ebd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3a9edc7-c4a2-4a62-bf75-a07648b112c7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6778c566-c30a-4b36-b0c4-466936781712 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4ade265-d685-471e-bb97-ab58207be9bb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a38ad703-4c8d-4289-8d1a-8373ab0f6550 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8eac7b7e-387e-4db7-b018-87d1a9154362 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67097e18-118a-4e03-9fa2-5fa12d55b1fa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6617ec81-eeb4-4fb1-b817-79cdcaee9ff7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b982e678-2b7d-45b6-900b-2ec4624a3675 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:419b39c3-97d7-4e5f-91ef-ef253b99cfae phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e30dc9e-d859-4722-8892-22e2541c7a5e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74cd0060-34c2-4839-a741-e626b44d4d0f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4d00f8d-899e-4b68-88a8-b9cd00cec437 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02c8bfb5-9933-4049-9943-c39a2e661dc7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:adc9ace1-9f8b-4787-bc4f-1b71647fe740 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:429baac1-6638-4507-b559-1e6e60af3d9d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e607a78-a85f-4050-854c-620e6a5280ab phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3473fcb9-9442-4bce-ad94-c59e1df45bef phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3701568-84c6-46d1-a8fb-489f7518fa2a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1da62722-0d67-472a-bc44-32f2c1b1e18e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53893a08-93ce-415c-bc05-96e300d5acb2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f4753dc-1362-4062-93c7-550e161c1a42 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1afc39cd-4800-4d68-aa92-b3d906245b59 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:46f51ad3-e18a-4d67-a1ed-1d82df2c1a66 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ddb365f0-7076-4d44-9559-4617ca6e3b2e phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4a716bcf-2103-4dda-b18c-9695241eba4d phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0c4e400c-de8a-48e5-9ae6-c01d014e453d phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a5b6bffa-ec24-4c56-9674-b12a27a5e1b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fe687041-74f4-4203-bdbf-cb3d2a4f29d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:281784b3-e3d7-48da-ac14-23c80c5adc78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6beb5103-446c-4097-bdfc-06d0af4bde57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b44b37d8-5f40-458c-bfd5-65039d724967 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:558cc7f0-3449-403a-a2e1-996da289eda1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53eb47a2-b967-4669-8ad1-b300136140fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc912008-ce26-4117-aca1-a645f985b305 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bca0f66-d015-4f17-af63-24679ddd97ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12182730-2a5f-4104-8070-acede5f092aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:732bb43f-9033-43c4-9ab3-0a46d371535b phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d335149f-1a86-4708-99a3-b16d6a320a9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d81d0f2-0a5d-4ebe-9c59-2f7c3b6f4577 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:542e6c84-b8de-4806-a4a2-44bd54c1c89e phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8df642d-110e-4fbb-97f9-4670a3b837a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b9a2294-e368-49b7-b228-8ce426117ecd phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f0d68f3-b4b2-4800-9813-a7188b7dc465 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b9b570c-195e-4a44-8003-44af5e3ffef8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bf30a6a-0759-444b-abeb-954904acf5a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2e3b0a3-5a12-4422-80c9-703fdc989c5e phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06654597-3122-43e8-9e82-3183fd2359ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:23eee052-6c20-4027-ad91-bbb1ac4a5a51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c92768fd-58e3-40d3-af03-9ec6197a585b phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6265ee44-8279-4f15-bc4c-c1575bcc5d3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fd5d689-b70b-4a4a-b149-2b301fa529a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72ce4012-91db-4c43-93dd-89e18a525797 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:acd96fed-14d7-4ed7-ac45-25a8423171c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41c50be7-d507-4ed0-8918-ed23439592ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c110dba-7921-4c87-9df2-bdece69a3c23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7459360a-5b16-4b52-9dc1-a24c78e33500 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3915e4c-eb73-4b86-b833-83bd4fd52230 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9104f1ff-8435-4d6a-bb62-ef5d6dfa0761 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21524951-d6dd-4392-821f-1fdadaee79bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdbbb281-a7b8-4735-a9fb-2f211368178b phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:006d0789-6b72-4447-b3e7-06fa628fed69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:031d2edc-f735-4d59-aad1-e819b53f3124 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a44d0de7-58d9-49df-9825-d7a894d404a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50ae6ade-70bb-4b5f-a0eb-73942772645f phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31008f17-cfb8-4727-bed1-51f572c84996 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e4142a4-0cb6-4164-9b71-1271e343d092 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05a716a4-cc00-4fb1-9238-3d44408a1a04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ec2b96e-00d9-4c20-af2f-942c3166fe72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71aec0ad-8ebe-46f2-be14-155e894e45ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc92ac21-3f4f-4381-bb56-11e31a793b32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b82bf0fc-9f71-40e9-b547-8dae2bdf4f8d phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:72db76f6-07d7-4d22-b1c8-f7a1362685b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:abf984dd-47c9-473c-9daf-1404b6dba075 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60c4f07b-955f-4357-81c1-6e98192bdd74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fe3a91be-b4c3-4299-9893-c502c1baaf79 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6825ec2b-b9f7-4695-ae93-d3ee4e0e4bae phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:99d85396-64ee-440a-bc42-fe5e34dacc92 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:196d16c9-816b-4a92-a2df-b52a1a594f7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9bc4684f-1fb6-4f5e-b4e5-90fb6ce723e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84c0c7d4-7f76-41bd-97ff-6e8fa2f637c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5442b69-8aa5-46c2-af8f-c6252aa5d556 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:641ca122-9293-4f31-a8d9-654a1ea082a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19cf08bb-c853-4fcd-baf1-cb14f9900c69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c25e68f5-8ccf-4594-924d-144af020bc28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e06234a6-c914-4461-bcae-d6c1e26f5926 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c0581c0-3d89-443f-9b61-a39f61f7b6da phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f96a5e3-57a7-41eb-a170-661df8d08783 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ab7f56e-7b46-4085-bf35-7acc2563722f phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b1717583-620c-43c4-9290-5366a65d8db2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe4b9f5f-e162-4efc-9eb0-0284867bba23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32dd76be-4d92-48fe-bdb2-91ff86c854e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc668d68-5126-414e-b6b9-2d7ff59851ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68d42a5c-746b-42c3-bda7-30e69675ab95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fd24d1c-1069-4bae-8552-7d5c081b6482 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:42788bb5-87e9-4370-8858-ee8dfb37e5c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87dfc732-c0a1-4a6b-a659-86386c8303ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f99c80b-452b-4b7a-8f11-d35d01227652 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88bc6bca-692d-4461-94d5-1e5da98893fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4540300c-d6a2-4706-9bff-c61eae0e9edd phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9044425f-0440-4d97-8b06-327fe0bc0d4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f962131-6d35-400b-8045-67759f9beaf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f59a1b59-203f-4ab5-b2e2-893fb6331d04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:333e0d4c-ebc5-4dd6-8c14-8097c3800069 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9bf61e51-b0b6-482f-a5e7-ec8f6804044c phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c7071c3-ddab-4680-9b95-feefc8710944 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f437edb-77dd-42a2-8772-5326b11f5ea8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c61da35b-30df-400a-9865-dab4360a8c9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ea05a4d-a2c9-4dfc-892c-6faa17872ce0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad868793-de56-437f-996b-1a10092751fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73761d53-d3f5-4921-9b26-53401b917726 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4f6d96b-1970-4675-b805-2ca058ead513 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a07be718-f087-4453-b9a8-f357e4c53e53 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:096c5527-055a-404b-b996-c43b174955b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c1c0495-26fd-4c01-afa8-fd6b27f3e0bb phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ad69665-0d44-40b3-9703-ae38013b190b phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4b292751-c10a-4ddc-8211-fec4edcf6526 phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:731f85f9-775c-459b-bd9b-76c7729f8c6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a9a6d7db-c6b9-4fde-ab31-b4284b5ed12d phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8a324a21-eae6-4c57-a223-2e69326019c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:098174da-7f45-4fc6-96d6-8192e52682ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:589d262e-0edd-4979-b7d5-5b8ee889bd46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2ba1e93a-e853-4321-a24c-94ba7741f0ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1fbee18b-c7b9-4d16-a7f6-4b2bf9298c56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:49c5404f-b1bb-48fd-abc0-fe004ce5b67c phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:448ed0f8-a488-42a2-8b97-b40c2a0b66b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ee7fc1b3-2047-4275-9728-bd7d448cf6af phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cd637d1d-73dc-4d80-9b94-5c59a4bb7e56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:694a6a5e-ca52-4045-b62e-e568e0466433 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03a680f6-6b29-47b4-899a-eb5e601464bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2fb8ba41-50f3-4d68-bd52-df225ef8bbf4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:726ed09d-5f4e-4aa7-b2e7-f26f58d5b94f phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ac45e36-de9b-4950-ab52-a04758e66213 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1bfac86d-fb34-4ea3-9efb-3be5bc22d570 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee0edf23-e3e9-4437-bd8f-3c16acb218ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e23ff0b9-2f51-4f57-9764-db3aa909eec6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17bcd65e-a2d8-44ba-9d16-3e8ff629562a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f14d2aab-1365-4769-bc35-a4cc87d0a8cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d97eed8-3f68-4d2d-a706-d57df1bb9dce phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:adef7ed9-b1ea-4b49-b25b-c045cc33d356 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:100b35c3-2202-4656-bd7e-fb14488e89c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91a21e84-9b4d-4c1c-ae96-cf35b3e8aa4a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a02bf428-5575-44a8-8c22-74bef4658e96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef8c2b67-d489-4d91-be8c-18abfc6d071a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d04833c2-7aa7-46cd-a10c-bd0bb34a16c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:07a81fd9-13b0-4fa6-9e91-e0e292dacac8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ff85ccd-3fb1-47ae-a69d-f6869f87337a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:431aa7ec-4524-41c5-985a-4a239003449a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d757de1-24bc-483b-add1-3a3ceb3d6e4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8fc9436f-8521-4388-b520-da8e39271e6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:998cb405-7f00-4a7f-b0d2-4d72a088bfdb phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fab7d13d-b4ac-4b2c-b3be-41cff7c89804 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cde6ca80-2bd1-4af8-961b-523a12ecf344 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:510fad66-64a5-4ea8-97e4-bf376b9bcb8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63c45472-6880-4ab4-bb4e-4abd58bdf773 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62546333-cc79-4a60-924f-41ecc4af5a2e phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a5a34eb-9b98-42a7-9c0a-dbcb7cec9bcc phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8532f436-4860-4fda-954d-9e05ceef19c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e3b1e3c1-2271-4d3e-ac07-8dfc26f4f215 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a550157-9455-444f-baae-f34ccb5fc45c phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a69e68b3-f58c-4f28-bd76-64145bc1334f phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abee39b3-2714-43a0-9e94-e832f04e10fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3f2e01d-7a9c-439e-a980-00b704b6ad04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2766de79-d4b9-4f41-9253-eb1e5f2b1408 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:928a1b39-38da-4669-a6f5-8274e919c45a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5cef240b-af84-45a1-bbf3-fcb0967cbd4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53f8612d-f659-4f61-86b4-536896bc4039 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:489d2474-90d8-441f-8002-b385ad93c302 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e455aa6a-3c8b-4273-ac7d-98593e5443c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e145876-770e-4c92-8b2d-364db8655b0a phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:534ea60f-7a7c-4ccc-a88d-c5087e74fea3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:22e3390b-6e7e-410d-a17c-2580d5228a02 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f3e872e4-a0fb-4233-a20d-98d14961c182 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b67e592d-d506-41a3-98b4-1ede2e94a446 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b7b41465-c6ae-48d5-b35e-ae9ca72576fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8e822153-e075-4757-8887-84ee8251221f phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4f748aef-d892-464a-a8bc-ba21b164aa75 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1a876796-d9e0-4013-8518-1b21b3567591 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d2e1a892-d867-4f2c-8151-2da2efa33499 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d7c63638-7cf6-4844-a859-4257ff1d358d phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79aba5de-6604-4836-adfe-2a65b215d3fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85a22b11-5c23-4e54-a806-f837bb173d3a phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc733fd8-7b00-419a-acfc-5e5392363d73 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c61f6a0b-aa2e-4f79-96fd-7ece35c5c426 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa038b41-2109-473b-88d2-f8e7bb726345 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfe4441a-de97-4d13-957a-9383a3d7ff9d phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb220afe-4ff5-4748-b2c8-ce8a2c2e6802 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9275f29c-b271-43a9-bffb-46f556597d3a phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc901929-26e2-46cc-bb75-d02da21099f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba42ff2d-e32a-4508-9636-439ad479c13f phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f59120b7-a127-451c-a968-b42505a5dccb phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8fa17fc1-535a-429e-ab7d-2da39c93877a phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dac19705-74af-4f14-b742-e061e8103013 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b7a992f-c23f-4796-b039-f0515c67d20b phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc5623f4-072e-4f66-be1d-43ee5874640e phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:265d6808-bb25-40ea-8d5d-16b2c9483927 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f02d5196-0d8f-4f09-ab08-556f67a8b8d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:528f7bcd-43ab-4bef-93c8-5f1649c2ded0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4add381-347d-4914-9694-4dcaaf70e865 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d93de85-2a21-4155-85be-b2fd97838c70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9652919-239c-42cc-aa2d-9c1a9eab14bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20dc164f-e415-41e2-88c2-38a57c75a25b phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03479df7-1f65-4ea6-9553-65dae931696c phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:873ef131-6929-42d9-8334-0e636e9b7a2d phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33608d90-abf7-49a7-985b-4710fa113e18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b87f73ba-e988-48cc-b6d0-c4352cc868bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7992ce51-c3c2-4374-96e4-d7e983c9f8f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a8255d3-4041-4db8-ba6c-e65b30a73598 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a62ac2e9-eed5-453a-a113-a0247e97f229 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c6c1fc3-2f3f-410d-949f-fb4bcd492eca phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a4159af3-bafc-4f60-ab1e-ae7584df3ea5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72af0969-8633-4939-be1f-16d533adb6be phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdf7c007-9ec8-4101-8e51-73cf93a75a93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0530b9a0-8c47-4e47-a43e-7e9662c821e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4442dea-141f-4795-8b2e-15adfd7963c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5355c478-d0bd-4b4c-b500-f475907a7317 phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b03741a3-d21c-439a-982f-f0d4c17128c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:df3ca606-a31c-469b-8ea8-4d4c07b328b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cd47a56e-37b4-47d1-8bf4-5b4c38d4b7b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e075d57b-c5b0-4dc2-99be-b3d57cc10b27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:42473723-f8ff-41c0-80fa-79aa61867e61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:89eb1865-bcd1-4d15-b27f-6f417b55f955 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:304a03d6-df63-4c5e-aa3f-2b28a73824be phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9322ab5d-93b0-4e0c-8970-2c672421cd21 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:78e4e97a-090b-4689-9843-81e452bc854c phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a3e84f45-49e4-40a1-a635-57417b042ca5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:663782bf-095b-4568-b4e8-c7976ba93e4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4bc55b5-f62f-4c66-8528-839adb64d88a phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66e22154-6003-4fa3-8d0e-573c851f7832 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c667f0d-7b60-4193-9f4f-c58c6bdfd2fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5295848b-7cc3-44a6-a908-7bc5f2c1001b phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:801370d7-a94c-4cb4-817f-5edb3d53b9c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:046a1693-91b2-4974-811e-510f3373f6b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df3b5d02-a9aa-4d87-9fb1-4ea81f43add6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd96f5f0-a990-405f-a9b0-757d95944ea2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8d71623-c444-4b3f-a0b2-1f192a4282f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:874446e5-47b6-4537-9669-3963b4ddbc03 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5111b72-e243-4b06-a8c6-4afff08172c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7756284e-eb8d-47c7-bc98-0483d3f62246 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30e088a9-744d-407b-afba-ef32c98c2b95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de3b74e1-c177-440d-b1ec-bfa8c11c5f9b phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81a1e81f-da9a-4519-a086-faf86c7ee52d phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c665d5f-b14d-4e06-905b-fd85c955805a phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:667c189b-1b6f-470c-8486-96671670321a phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e323430b-284e-4f43-8acd-e841f50e5598 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4cfb94d9-314e-4e7e-a4c6-68d085e2dedb phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8328b5cd-5c3b-4fbc-a5ec-9de66f53537a phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41f3df1c-8768-4869-a93b-e5d483306563 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fbbe8abb-3125-4f75-b0de-4b35cab734e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e8658e0-8c17-407d-af7b-7ac7af413376 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c962a50-9609-47c3-a217-ca1475ab0ae9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bdd9a6e-b5fa-4716-80a9-63f95b4e180a phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:001679a8-2f53-4427-a9f5-0858d46d98b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:927b6737-efdc-45c6-9586-dfe8a6490e99 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:425482e0-749c-4a51-827e-57ff2e35fb37 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf06ad8a-2ca9-4913-b720-e52d1a36cac8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc09c4d1-af02-4234-bb8a-395a08f6539f phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:818655cd-4966-43a0-aba2-2b8af3e57a30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bde3327-63ca-4a18-9b6e-4a81287429bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c661fb7-12c7-411a-a83f-f47846c6e827 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67377315-12a9-4996-b2f4-b817f93b93db phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bee84ed9-9872-4cd6-be70-7ef57230d2f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9182543d-569a-47ab-abea-2b5221e93f0f phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea834eaa-a8f7-4eed-9fe3-6ba0c6cd48f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0db99802-ab2b-4f90-929e-417d750cb3ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c91f1e20-0739-4daa-9392-ea2c6b5f0c2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:949bf82d-944a-442b-a2ab-bb4107883782 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6f8d1a12-ae2d-4009-8c9b-a00d215d2902 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:205c5c19-350b-49de-b9b1-30a444aafddd phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:15236afb-3653-4c3d-a88d-616bf5f03dcb phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ca6fd70d-079f-4894-8374-6618fb662318 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c4f701d8-e36f-4fd9-8bc0-956e5bb51ebe phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3eb56ff8-a32b-4102-aac1-ca534c3dc930 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b9023bbf-23cc-49e1-b7f8-1ad964ba8ede phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0911aa41-5b07-4031-b50e-611449e3e801 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cb63d6d-05b6-44f4-8811-34d7a2465af0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dbde0943-b41b-470b-a9a9-2de0d09efac2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3b0e10e-9e7a-4e40-8511-66db1ed1152b phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d837f7c4-2e63-485b-9a47-ba4262ae7072 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c6e02b7-104e-4710-9bc8-048049bb21bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba498439-c6a9-44d1-8792-0c9efbf052dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc951752-b9bc-409f-9783-412bbaf84ee6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d2a13d7-1e43-4c21-b37d-58443c01b64c phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:405a4dde-d818-49a2-b0cc-7d6256c1ca4d phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bf0a479-a9d6-413d-bf3c-13d7da01ce3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:baaa6ec6-d3c4-46c5-99b0-f8366ea184a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b905e951-ab03-4df2-a005-4f13b5a93150 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f57a779-6dfc-4e5c-81d7-29a8478714f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:007636b5-dc88-423f-9849-58ec3bef3199 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f8096c8-26dc-4146-a803-2860a7f48315 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e884db1d-d5f3-44da-b49c-c8b3150c9343 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca34362a-7645-4a76-8b49-c13e51b7de46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48c7890b-66fd-4c75-a1e7-0494b759c7e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abf970ee-f5c3-4c6b-a28e-c76af30f60e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82b9a1ca-191b-40a1-a84b-a1cd1586ed97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b91cc57a-92e9-4cec-bd27-a0a75a4db12b phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64d62775-0a63-4ac6-b920-7adc8bbfd5ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61c0f957-78eb-4c98-9b68-526aea7515b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81565a95-d061-4d99-94a5-988613e35256 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d0f1127-c1aa-4334-a118-2bfe1dcdf66b phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0636f2aa-c592-41a2-8097-acf6189d080f phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d96d3f7-10dc-4a93-9859-e528f6a98d2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20f1ea76-3f1c-4c1c-b11b-fe0db8828c2d phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e71f6edc-8e0b-4d96-aa0c-7e7b1020a9d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1bc496a9-7ed9-4f09-99f5-ad2da30e6e9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53a2463b-9383-48ab-b922-9882cba4fc65 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67a0210c-8cbc-4fdd-8201-ddb7cc2aa312 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32073e94-a0e0-496d-90d6-b1d61558e750 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4a3d26e4-95dc-4c88-b500-b45a570d69d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:176700aa-fcd6-4b7d-8665-7493756daa59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:df0469b5-9bb6-4128-b171-61e960e94768 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3d2bd0ff-24cd-4b8c-a854-dadc81ddce12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:75e0a808-4362-44da-9905-bc037cf33d3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6695591d-400f-4f59-91cb-f3cdff0cc30b phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:af163711-3658-49b0-81c1-9c523f7e0aab phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f2981341-3f8a-417a-a35a-34daf3f5f2f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:48e055ba-43fe-4213-976e-9dbf64d27732 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:57a1d471-7357-4ea5-8228-8ad05b9cffb9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e35a6240-41d9-4321-8e49-44bc22cba16f phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce25c0b1-3337-4037-a0cf-e28be1fa161c phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a4691dc-7885-4f73-a8fa-95a1aa3db098 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:786c15de-e4c0-49be-8fa9-8ef238ba99cb phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e8a34f6-f29a-4bb5-990c-0d88ae0336c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3923a41-dcff-4cca-ad7c-d9a734216f8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8149f35-e575-46a6-b745-8c315ee3e847 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64861a97-8fa8-4bff-8c6f-db51c774d1ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01301f64-ac2d-48a3-9dd7-e1a1aa5bd9f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5c2a997-350a-4541-a71f-70660d8dab4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7c20355-9b4c-4091-a8fe-8b9c0b0abe26 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80477d40-0c9a-4584-918d-faa66b51a79b phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10f0d2a4-932e-4b61-87e1-fcb83512afe0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a6de103-5043-4e02-a1ca-f0c18db898ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b41b9dcb-8e34-4848-8eb6-91dc223842a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7eab886-069f-40d2-a5a2-35935cf3f27f phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5f6bcc3-c22d-488c-b14b-6d4ae39c31d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2aadba3d-e668-45c1-96de-eaf6edd3182d phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcd97aac-b696-4ae6-9055-d2352d6b3d0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4baf454-0bdb-4a42-9d23-1a373281fe61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:129eab9c-37ef-48a7-8ea8-5347dffd697a phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bbd59727-8cee-414d-ae20-898dd1a8889c phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df65f17b-6fd9-463a-8065-8f13d4cbe15c phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b967f391-449d-479e-ab8b-ab42d03c095e phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f9578d1-5c2d-40d5-b3b7-2b5fcde07d7c phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c89783a2-b9f0-4239-838d-5b11a0e7e82a phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52c1c942-c97b-4bb2-a9b9-ae91e2412e5f phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eecd1d0c-64aa-455a-ad3b-1795a5c33510 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7421e0a-c6db-459b-a2f3-6947031b65c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4e7d357a-ca0f-4a35-80a8-c9bd24b7d165 phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f1f81b9d-d657-458e-a76d-8079f1e0319f phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:03048e98-c50d-4391-8afc-604968f9c1f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1a8c0a5e-69c9-4f2c-b95d-72e894af53d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:34bf102e-01f0-49fd-a03b-7de09b5c452d phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b3ed5a38-5072-4e17-ba76-c03f854fcc2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f7c72e18-598f-42c1-8e0f-8e603b945efd phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d5454b16-bba3-4c24-9da1-6160b0eb834f phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:13d0080e-0c0e-46b0-84f7-6ade9c369def phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e8256f16-11f1-45cc-ab28-bd77e0894d46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:39d9ee7f-092f-40c7-868d-51d3867adaf9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:067c41c4-c774-4ff9-8a10-9c091007e7ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f5bab9ef-cbff-475b-844f-9bb9eba688be phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa589b5a-d511-4ace-8a21-821df8ded12d phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63e059e5-be92-4f26-ae44-3da58deb66ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17a46bd4-9bd8-4731-90c7-569f861b390f phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06a48717-e03f-43cc-bb2d-34cd14c36450 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33e350c1-02d8-49b1-bc41-fa9f920c22d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28653236-254f-4100-9c5e-40437bb55d4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c44b04a2-e770-4ab6-87f3-3998694ee2fd phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25e2d7ef-4c2b-484f-ab17-20051c91ce2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fd05133-2348-4ffb-bf5f-1cbf4f1592db phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c569834-03ed-486a-ae3f-cd060f51f515 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6311e08a-1c1f-4e59-93b2-9fdd418005b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32023df0-481c-4bbb-a59d-bbd3dc074b18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfd4ee6d-6afc-4a28-af14-09246f934a04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4b52ae9-40c5-485d-aa04-fd7e31e12634 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c5f08f9-5698-45ab-9005-96a0c25615a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10c31ef1-6ce2-46d4-ace4-d46a11cd6179 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba7f6843-8d9b-4b91-a88e-750d76a170eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0194223-3477-4155-94bb-8fcd9edfdacd phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb90133e-3c3d-4c59-9a0a-779655a96e29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:945abfe8-aec4-4ba7-acd6-78c0dba23224 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ab1c9f9-f504-4f26-a205-01a7055e5ffa phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c607a116-d3a3-4b95-a046-cf59bf13424e phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bfa5c70-cc5d-4c2f-a087-dbf8e61ab944 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0de50cd4-453d-49a6-b362-c7e87af54929 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b11eb04b-10dc-4d46-8fbb-a31b795da09e phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30709f3f-c636-43a6-89ad-1f2cf3a2690d phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b181f32e-1f43-422b-b1a9-4702c2df4c56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e186026-3689-4c06-a5ed-6a5b4375f015 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66fa1730-003a-466f-9eaa-25bbc0aba0a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5befb957-2dcd-41a5-8cde-230f74ab9859 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf394b88-1d0d-4a71-b1ce-802eb046494f phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e6f76a7-c7be-4577-ac9f-342b49bd19ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:793e0ca4-da3a-47fe-a62d-80d412c97f7d phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba1de922-d737-4cbb-a40a-57c117c79d58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5a8613d-356f-4454-a5bc-67d2148270ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:192cc222-034f-438d-873f-cbe059ad8e95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62c15b0c-6e1f-4d85-9b4e-3d9592e37786 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:325fe6ca-c17b-480f-9f42-ddbda22f7220 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae8d1ef2-8116-4d26-98c1-42f9ed52145a phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9cb17c36-5e32-4c38-93f6-e49d39fe3366 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ec493deb-95ee-4552-8def-15fca842d644 phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:13fc0b94-6f6a-4d85-85f9-b9457948a27e phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5a661332-445e-4cf3-978b-b35cab35a1cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:83263482-c1ea-4078-8d0b-8f7b072af8ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f2f6289b-3cee-4b08-b96f-792380c75c39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2aca650e-876f-4f90-8e1c-8d17137678fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:67755045-3250-4ec7-923e-a39ad6235847 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:95bddf63-ca4f-46db-ad54-acd2ad4bddba phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9d371e35-b1ca-4ac0-ab43-808a4688c58d phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8720a79e-4e07-4791-83a7-56fed73f6495 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7cb28422-da3a-44f7-86fa-d63c2936ec71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5e006950-fc57-4d37-8f6c-fc552619f4d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e2a8be29-e30f-42fb-b160-8825c58639e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ad06a780-cd76-4c89-9a22-17a076686f1b phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b5600dde-d0e2-4810-97eb-272c2cf0564d phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e3cdd4d-e8e0-425a-88b1-121ddf6514e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fe19da4-de3d-4015-b78f-1f4e183ae8a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc88ac7f-3790-4386-a48a-09877935b1fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4efbe8cf-76c2-44d0-8dc8-464fd94818da phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:934b33fb-bb7c-49b2-8418-1da727bd9961 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7592e6ff-86be-43f2-964f-9d51c4a60d56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50a3ecc8-98c4-4bdf-8a3c-522abcea5257 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef648eb7-5c76-4856-9004-5e7210beb51b phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47f43fce-10aa-4615-b5c8-1f053502c242 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1fe4654-13bb-49fb-8e5f-f2e204ba3e8c phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc5e42d3-f25c-43d6-90e6-8c545c1b80ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e6a3268-6648-4d59-8a29-0c0c92fc57ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:703b8beb-8025-48d4-bbac-b722bbe4b2b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a1bac31-3da8-4699-a4bb-72a0d734156f phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3aecc2f1-0f46-48d5-977e-357387179951 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e7a8e81-cb25-4429-8401-c8d8c9fa0247 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10192793-30f9-4f0f-8152-15353d97d7f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9b7ef07-7116-488c-8fcd-73f09ab94fe8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82dc2a42-bddd-45db-bc94-8c6b927cd7f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2b55f34-d273-4145-a228-a21d885b7076 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b377d7d9-9859-432e-a377-51e94785f8ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bf32eb8-510e-4fb5-a52b-4f8462b56b27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e5d4f39-b2fc-4cdc-8df5-41c89fe64b59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87219d10-b5ac-41f7-b7ef-967d2f6adc96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a064bc27-b012-437e-bad1-d3b86e53270f phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d257d0e-719f-461e-b598-bd26b5c015bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec788f6f-17ac-47f9-a9b8-8a3ddd517e1f phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:915d46ed-89ce-48b9-b473-9b5eb37f4d78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bda8da72-ec4f-492a-a206-917b3dcd6331 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88a51345-7319-4a73-ae3a-b79ad65f7b90 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fe96866-e0d0-4c49-abac-b9da018b5b01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3388614-5955-46c7-993a-e20422b95d9c phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bd0fa9b-8d8f-4f69-9612-e25526ed7a1f phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a2aee87-1fb0-4ed1-a9ad-496b48b7a469 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f8d7f1a-d28e-44be-b911-299c7ad199ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90c6eef9-8fd6-4f54-8754-3b2b4e15f949 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:043aa51e-e3cf-4549-8b70-2cf4b91da896 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5538604f-a5c5-4f2f-8eda-9e399b79d89b phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e5027e11-92b0-43bf-a6f4-394af4797e70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bedbde72-cc4f-4db1-bff4-9e6b20d867c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5854604e-ea17-4882-9060-4a23d33f56dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f442d7cb-0188-4c42-bf43-23ed9cdc0bf1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f7b0f4fc-589c-4b8f-a3e1-b3ce4e0ac7a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:44f86415-435d-4907-b14a-92dc7d46fd0c phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:61fa4844-6786-43a0-937e-36c59f10aa94 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bc316a1c-c3be-4c4f-8bcc-7e85a9903ae4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:95410948-d2b5-4702-945a-d54186b0fca5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56952d66-5dee-43a4-b95d-0a76e25f1b74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:372a241d-7e5c-4486-9cb7-aecab6d7fa85 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3299bb4-155d-4cba-b7d2-693e639ae9f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2830c802-a1fd-4860-8335-49285a11dba8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed687eee-46f5-4f33-898c-d38933f958ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04ff4a5c-e59f-4d2b-85a4-7d02f7989f91 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1e81d91-c7dd-4e1c-b875-7cfaf5adabfb phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a54c3c9d-6382-4c9c-a82c-d4bf04ce19a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:309c794b-406a-4ee9-af99-3411bd224794 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f2057b6c-5fb3-4a1b-8b2b-7a1f07f7cab2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2fc6b9be-ef7f-4794-a97f-9ecca55f9d76 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cecae515-3ed0-448c-b019-ba4591908f0f phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61551cf8-3cac-4257-b0c6-9ed534b8411f phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:942e42f2-4644-4b07-bfb8-f4e565910a60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34142ea2-6fcb-496f-8d8c-f35db559c486 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ebf970d8-e7df-40b6-bbc7-30a998780739 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95a12d8c-56a8-40a3-a727-434942f92964 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7701a8d0-46af-4010-802f-021eec903ed7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1691c8d5-ebf8-45cd-a524-613e5fa644cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bf12906-1559-4047-b21f-b98f7f3e396c phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a635fd6b-888a-47da-b178-18cf2ee0a6fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a10459ab-f4ef-442d-bc08-f32eb6b86c05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41a1a3b6-c091-444b-ba03-5ef987c60eea phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24c1f403-fade-4a96-865c-956e811a69b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10926689-bdd2-4440-93e4-a3e6d79c6b7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a80979b-caeb-4cd4-84b6-2733948c528a phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d21f5bd-cf93-479f-a196-499f6c04e960 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dcec6afe-0356-4215-a056-33b994f0ed0e phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2eb7af9-2b56-4540-b1ff-5f44722028e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4169186-f36f-4126-8a25-d1dea9a10b1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98800a92-1827-4d77-a4f2-d69bdfbc4aef phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b0ee587-bfe7-4262-8ab5-5f7fd2ac1a2e phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7970c144-230c-4f33-843c-c783cb26d83c phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90cdddef-6a3e-47e8-8b59-5ebcfa5e0368 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea988a73-0c7b-40b9-90a6-b8238a638fce phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb671125-cd8d-4b4c-b53e-de46d63bc87b phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb82477a-63cd-4b6a-95f1-61c608fe6aca phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1588baa9-49ee-4972-906f-e619028f9e78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0aa936b9-5f28-4343-ac45-38175dc25258 phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:548971f6-1126-4e6b-83a6-a181e83c9ffc phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9aa7938-82fe-4eb7-aa7c-9919b985ee9f phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3fb8bbb7-eadc-490c-b4ef-b93e8ef7bc3e phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:3a8df142-66b8-4c63-b841-2cf16731031a phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:872a450c-2a6e-4aef-83d3-d7c3b0ad957b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e2beeb04-db3c-4318-81f0-ec25ae75cbd0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:17f1e3e8-cff0-4fe1-9873-617388fe5393 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d23d8215-ac79-4c5b-bb95-1fc730f9d48e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:00c4e380-45d6-4f92-846d-2c10e05fe073 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5c4d5d73-88dc-4554-859c-a149886e9c04 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:257c2511-9708-47e9-a2dd-31131b24e0bd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48e1d844-efb8-40f9-94a6-7cd8c04e870c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8f17347-9cff-489f-a8e9-69a218f6675f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:713a63df-1a6f-411b-aed4-9e17ad7bdcea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31125ba5-cbb3-4e3a-9e2d-fdb0acf7c7d6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13e9f417-325d-478e-a427-ee7af2ca7f90 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2630d32-8ea6-4974-8c4c-f3490156cd38 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7276ad9-4dc3-4760-b7a3-fd76628f9503 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:259215e8-b8fc-44f2-aee2-6a2dff9aba08 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:212655cf-f289-4ca3-beb8-fb89a515dcad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4461dca3-fa7f-433f-ad56-f8e9c3871cc4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:466a1595-2cea-4822-bf9f-f33ea47adf51 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c44e6151-1fdf-4f16-9a9e-29412eb863bd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ee93ef4-d874-4101-8e58-81362ae61cb8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c96102b7-4e24-4289-be1c-aaf87170aeca phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99c342bc-189f-43c8-b44e-0c235f1e06cf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b57f93cd-7f51-47be-8064-a37db5c0adee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aed9beae-56e3-4c89-808c-be5adca430b1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91ec1129-848a-4241-b151-cabd310edc08 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:baaf24a3-20f2-4b72-807c-987f755551b1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb2bf4e4-e1be-49dd-a85d-59fb6aa942ed phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8100b045-4171-4d55-9456-945eadeef22f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ebbaa5d4-5ef3-47c4-ac19-3e640a14ad02 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:038928d2-362d-40cf-b822-557895b83226 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc08d30f-6134-4f98-8412-fb77dfbd5a51 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1627c103-0b91-41b1-8d18-1bdc87e3adc7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ec8db85-c808-42d0-b403-3d088305ff1a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eaba9c82-539f-4e39-9199-668b5f677ee8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b38d5b6a-da0c-41ec-bdbe-89322276bfe0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de4607b1-2207-491f-887d-a194c1732812 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37c7a78f-eb48-4883-aa3a-18a9d9580dfb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92f1e2b2-5c75-4435-9d46-f5c8b46a2ff1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d155c57-c96a-4e04-aab9-2248bd8ec1a8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f74c151-5652-471a-b59a-fb0060400cac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd3c7db6-754f-4a7a-afc7-2e9bef23f58b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d67d34f9-24de-4879-920d-d114e676f7ce phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18dd8639-f226-4e4e-b9b3-cc9afbdb400d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f05d35a5-b5f6-403c-9ec2-8b8b2f963d55 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c808131e-30c1-416b-916d-1a12d2d9a6cb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e7f3dbd-6f02-4324-9a3b-c29c9da843a8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06aed796-14ff-4f9d-9d6f-a7e0d658a27e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8dea073e-a01d-472f-9409-fcb6104d35d7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cde06ef7-6417-4d03-8864-49e67fef0dfc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18d2864e-bbe7-4274-94b5-7e7ac0eb939a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0121621-aecf-4869-86c6-238b3b9ca355 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd32881b-3a2d-4583-8ea6-ed4807ed5685 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ef543448-c017-4b94-8f1b-d0bf5cb42e9a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cd1d519a-10d7-457a-ab6b-59d8f021a409 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f323adb8-0493-4078-b86e-902d00a64c1e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:33381bd1-4350-4779-93b9-49458edb6a21 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7bef3051-abf7-473a-91ff-e489e8389241 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2d7bb4e4-00d2-4d9a-b1b7-b40216795bda phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e40a3c09-0b44-4544-a96a-7f275f0932fe phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d62fd26c-b9fb-41f8-a285-829e52a20cb1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a210e0b9-ab15-405e-89e2-43c7e218e57c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d9d2243-4990-4a2d-b542-c2a601ac6827 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6f5d8e9-4221-43cd-8b8c-f004a6470c43 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ef1fdb3-39f0-4d7c-9783-71920b5c2aa8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edd652e0-66a7-491a-aa1b-a70f386971b8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d7e4ba9-8ac7-4657-a6b8-c17fe19fca5c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1e9c204-732c-4bb9-ac0a-37e30d618113 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d08ea345-0a79-420e-9ff6-df0a08e5ffd2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:515e672c-016a-465b-871a-f63004f919d8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b513aea-50af-4bf1-9b0d-682c7590ab24 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18d658ff-879c-4548-8971-e3248b7dc33d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:107a8b89-6d9d-4559-9dc2-59e6b3e2aca7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9fa36ad-ccb8-49f5-9328-d4b4c8df069b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c3f891c-fffe-40c2-a2a0-ef9809a1d23d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efc5e6f6-b050-4d17-8979-25ea626b54af phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9c25490-ee5d-49b5-aaec-032f70939021 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4dfcf0f-4220-4a85-b475-c2dc09f19668 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09b757de-f903-4230-822a-f774b77267a3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c3cb5b3-9085-4df2-8cba-63faa30c37ec phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3c7a4e6-1b1e-45cd-b70c-d2a4ab8dc3dd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25241c11-c8d1-4112-973e-500d590921f1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eeed4df3-a7c3-44a7-a943-c47a75cc468a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1deecd30-20eb-43f1-a0a2-e6562312f0ec phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50be5d74-0753-4d07-ada4-2c79087bff6d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:872e6a1c-bd4a-432b-824f-dd2444eb7ef3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b5e97d1-e720-4bfc-b0b7-06f4bcc75600 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be2865ca-f03f-4588-9bfe-91698a32030e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:440490bc-2823-48d1-944a-c0edebbbcb34 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a25d74b9-efd5-42fc-bc10-7f061221ccea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b479eec4-b0b1-4813-b0b9-c5af30ae2d3c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5694fd0-8fbc-455e-aae9-f04857d34797 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:acc37fc6-b8fd-41c2-b9a8-94d16aeb1b4b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:779e303d-9b19-4c11-9bf5-b8cc6f3adb55 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a42ee9f-a8cf-4a00-aa67-70e7c6cfe36f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f9023d00-ad74-4c60-90a6-eab77f4955cc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24acbf7a-e950-4a96-a90c-f7bffc5cdfa7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ebfbb94-75ad-4e1f-9082-a91191fa9018 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1cfc6e2-81fa-4df2-b7b5-a5e8eb2d6f37 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:225980cd-a633-49f6-bc8c-070adb3a5ef4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a090ef22-f73b-4ac2-b56e-b109575fff84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6fded03-1092-4bf4-9ee4-aa79f86ab4d0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fee9e349-aead-4805-9294-b3d645b2a7b0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c1577ba-f74f-42c7-b28f-973d34778df5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ab4bbed-08af-4689-90d8-d42b496da9e5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f365a62-4346-46c0-8644-f63a85361048 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:33ae9ff4-dca1-4168-98d4-5005debae3a1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:47f3bae6-5252-4024-ab05-fe4e5685780d phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:37f4e28e-c597-48ae-93be-e4e85d896bf9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ccde6ee4-06df-4528-8b0b-5957c66f34a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:521b09ae-dd4c-4312-9589-ec5801f69540 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8e240d31-76b3-4561-b026-2ce3c7b2eb38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0b7473aa-ac84-4200-931a-0d3f144ace93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:997647e3-45da-4b79-ad19-80b073ab5864 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ee26244f-1080-4376-a349-d5f227923e2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:afd25081-a75b-4c96-9c43-bd6b76bdd1ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f1c070e4-9208-41c7-979d-aec94674d5cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:40c72030-7950-487e-8e58-73d8a65213c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bb9c3e60-a013-46b5-a267-41d3387020a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a90725bc-0e6c-48c5-84c0-57cdaaf547d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c7d5e19-6ba5-495c-a5c9-2f3d7c0efa99 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c568fda-d037-4399-a7aa-44a1d74ce4d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f625bbc-06b2-403c-b709-9759bfebc4aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f63c8b63-4bb5-4153-bee9-8ed3cf9a1cf9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7eb079fc-f8bf-486c-8888-b9f4f1ca7c17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7e5c1d3-2f6a-4c33-9b3e-379d01a9a46d phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2566c33d-9a6e-46c6-9d21-160944dfe9d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0822c7b-69df-4abf-9b47-22471b620d0f phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26327192-8fe7-42f8-a30e-f85c0e818422 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4ca513a-1a09-4c9b-9959-505085942440 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:628ce057-130b-4b8c-8f58-1fd8f31ac3c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e656438-dfac-4b5c-a16d-04af1294730f phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f2834fcc-70ba-40f4-a029-043e34efbe71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9608b53c-e8c8-48d8-913a-b1ac134aef36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab465aea-11d7-4de9-97d1-560240591d80 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fed13e7-3cff-4881-a1b9-e339027f70c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a09ab5f5-087d-40cc-9c21-564587ef573c phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:440d9cbf-3f4a-41d2-a6cb-c7237d6cbb33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d07eea6-c701-450a-964e-405a10170bc7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d40da79-c734-43e5-8036-423e66423ac5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d4da631-1645-4039-9faa-02539ee171c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e97e951a-d6b5-46fc-a862-12e6895c1bcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a0bbb08-b757-45d9-9f68-6f1c7e5808d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:157c2ddd-a2bf-41ff-95df-b71175690fec phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:638640d0-4e3f-4565-aed2-d74b8b36d758 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1657b6e-6b40-4097-a9ba-ed49cfc493b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a50ee41-f44b-4096-a32d-2d9ed3f97342 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b159ba1-1ec6-45f0-88d3-985362933a39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f60cc79-a942-4a25-a6fe-bb90b39edc93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea83dc34-089c-49fa-86d2-11bab41e87b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d56bf9a-fdd2-4790-aea5-861e5c9fdc1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b26f73d8-a8f0-4428-91f4-b63d04a04d33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43bee253-bf0f-41b7-bcef-21a97c8cf0db phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:746c293d-c189-456e-86a6-1afc0ceb6a46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef818fcd-4edb-401e-86dd-836a81004aa9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c9ac7ef-84ee-4537-8b6d-4c2868f462ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d47cead6-680e-467b-ae1d-ec9c34b9d447 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:96a2ef1d-9ea8-4c79-9964-f2e91efc4007 phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:384941c0-1d10-41dd-bba6-8eca9e321124 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4c57a9cb-514a-4396-877c-3d65f1fdac67 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dae01998-9b6d-4ee4-8111-adfe61068289 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7ad7e594-50ee-4b59-8cb3-6c6b33ac5543 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1abaa665-7583-44a2-a5ed-061cbaa67975 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e6421d4-74e0-4719-a1f0-25ccb12ddbfe phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d585881e-c0d9-4242-85e9-88a346dbcc40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c5f49009-f8aa-4468-af58-1a88eaf086c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1885821b-634f-43ee-98e2-1d4beedbaefb phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:daf10bef-3816-4a7f-82ac-e5bec118d234 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5e695c1d-9647-4504-8a8f-5d1c7aeccad7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1dc76955-9173-4f11-aebf-c254a271c55e phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5bf8440-ffdf-4990-8a2b-00054a32571c phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f725487a-2a8f-40c2-b0c3-1c68e2fbec18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a5335ab-3be3-490e-b65c-d973a36b3928 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:679904e8-61ff-424c-9e0f-112f22ee0ccc phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:916fab2b-c221-4a73-bbc3-e536dfaddf5e phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3456a490-a8f4-417d-a955-2e11894ee8e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7826f4d0-88f4-49e2-a8e0-1b503c239cb2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3077abcf-c914-4aca-9621-5056baded1d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc47c977-4c80-4938-b151-144bd2e1decc phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:092d37dc-1e47-4316-8f0c-011335306cae phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e838976-5b7b-472f-a256-bbb9c6b85037 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a73b715b-ef04-4e96-95de-78ee36c9dfda phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:751b43a4-0bdb-4a58-a0fa-a57c60caa45e phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b9c0b8f-05d0-45b9-b558-7823407d34f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02431c8c-04ff-4430-bdac-f566127e91d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54e78228-bb3f-4130-89c9-b2ea8f456932 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4773e15c-0a78-433b-9917-fd625e069ab6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d07955a-6c0c-4cfb-9b9f-16a3ff3a46b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7496f6b6-af71-449e-b76f-02239427a663 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed783ee3-145e-43ca-a430-e606fe5a7e36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dac4b95c-68fd-47b1-808b-a096c27494f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12bf3c43-f14e-45cb-a034-0c2930b4edf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d0e2a36-0920-469b-9ac4-9f27787c671c phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e748b836-ae01-4a38-8819-fc8a307fc9b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22a1ed92-86ba-41fe-9447-1f94dbb47f41 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d02c0219-cb37-4d39-9576-2138a69407e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:775f9777-a3ab-4c05-89b4-183447383314 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee2dcfe3-26d7-4611-99a5-ad17d531bd99 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db9f5b01-600a-44c6-9948-2d13f3b15b2c phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9a73ae5-e97c-4e94-8a76-30b6e2c63aa4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9828e049-e988-4915-8bdc-6988ed8da7aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cbf72a9-fcb2-4810-9cb1-2edb351e6ad0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf86df38-3f8c-481c-a55b-00433f17f2d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:848633f3-3c02-43a8-a2a5-556b7d80b9b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4440a32d-04d5-4d10-954a-a46336aa8f78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30966c2f-5f7a-4dcd-aecf-5caa7fbe5ec9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0299c392-9e65-4fdf-9d9f-d197caefac41 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a1032ca-a6d0-453e-a9e7-6894335f7a39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:310703ff-d56c-4b5f-b06e-9593c0c6a50f phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:462d0511-44f5-4c17-82e3-04a3554722fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2988d19e-549f-474f-b655-77f8a5e3e9cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb45ae3d-4daf-4791-8849-74b3ad7f80c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22b74fe9-9d7b-4cfe-abab-bb40e07900e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ed17cd4e-7ddd-4841-96b0-58fc12db3afc phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e9e9df28-2da7-4d1b-b6e6-100b2054aee5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e94c038f-6199-4b79-9bad-de79646c736e phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d84059a3-818c-4750-aa40-1c62ed1a5375 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7773d086-c991-404d-97c6-6d84d534f03e phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2bc588f6-6eff-4443-93d1-eddb621bc184 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:35393b58-7ece-4b77-bba6-1ddfae4d2cbf phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6dc12b2d-fa18-4ee7-b4a0-12a26b52b30d phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e978209b-fc9d-4e25-ac25-632d4121d92c phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2159e351-3cd5-4589-87e3-9948205c62e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5c80fb1e-6c27-4516-b71d-5fd5ba8a5b08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f6e8ed3e-efd3-451d-9ca0-ddef658aef78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:04b50ad5-8478-422b-8338-79d2c784ac06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:430a6d1d-6e14-420b-9916-53f31653f3df phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b1a3af7d-f861-41ad-b04a-dfc2ff43757a phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2d283b40-aaf8-45f3-bf12-4d7e63b7f56e phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ddb0d607-ac8a-4fe1-800b-d0368821fcec phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:aff9ae40-81a4-4d35-8cd5-63a8dfd9220a phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6b96d9ae-b8aa-4d6b-8a6a-116857244d6a phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e110f25e-e95e-4916-877a-6b83d777e526 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0862f8db-e33f-45b2-8716-3083d8ffb9ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab6dd91c-0186-4761-a22a-166b882d8c1b phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f9601edd-f1dc-4c7d-8cac-888e37f08229 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d42c6bc-d48c-4d10-b2a2-6cd894ba32a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2834034d-976b-45b2-aad0-aa77045f3f74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5226eb36-dc7c-4019-a347-0ba8e34ad8b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9357b326-5300-4168-9fea-a73f55039aa6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fdc97170-af1a-4609-9cbf-9336a1fc0d9d phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8f6ce5b-bd91-4607-a03a-c58740a3ac95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:42408d73-c6aa-490d-a894-7bdf829f1bd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b442dda-fc4d-47ad-85a6-ca500993dcea phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3958511-ccb9-456f-83f2-1ffe6b227454 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30666f55-3559-4413-9132-07dbba6c97e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59c06c1e-10bb-4650-a8ad-c1b5632d006d phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c7ecc04-c9a6-44ab-a9bf-e60531dc9071 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9929ba0-41bb-4a25-9b18-97fd91ecef7f phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdb3333b-cd4d-4e2d-9498-9ae2a39761e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c6c3b15-b201-4aca-b4c1-b808b8ede58d phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85ba4bfa-ef0c-4a58-ac07-9e9e4674f958 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a3439dc-33da-49ac-a2ac-beb464bef750 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ffb262e-4aac-4582-9b9d-404f7dbd3edd phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e39d450-3a9f-40b6-9ada-dbae53438ad1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4314425-8e0b-4d7d-bd4d-d05bc56663e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8e345df-b474-495b-874c-0b2964c35b93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d223c701-7336-48cc-abf5-4f78edd80f6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:602432a2-36b1-46c8-968d-d01208d18e0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6a064f9-4706-4cd2-abe1-c79446bb0cbb phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:300b4ac4-609f-44f0-b6d8-210a3cc4eeb0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4da157b3-8f27-45d5-9562-cf71152f88e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efad5fad-0f8d-42e8-859e-511a7d86b294 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1ce0ba0-6dd1-4bda-8dd2-50ee4a9903f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03eecb90-7d5e-482f-a84a-76e0e938068c phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d02be4ae-5b88-4e36-aadd-bbc4179355ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50d8cbf8-c26b-44ca-b1d3-4b052ac04d95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70edfc6c-5c9e-49ec-9e11-887fbdac79e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f484ad93-450c-4003-a6e6-12f213c498a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a98c29fd-e4d4-4454-9d2b-24fdf460b9aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:18f9cbff-3f12-4a20-9134-7282c45a68f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8be58ed5-7ef1-4bcb-8205-3c81d8654716 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:06e04531-1f85-4691-8572-dab6e14a48db phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e54e16c-e2d9-45d0-a579-797eaf51aeba phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1967275b-3b24-4bac-8de0-dcc1c79b7e05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:df42d0e9-275e-461a-8821-4f5e4eee925f phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2f667406-f52c-49d8-8f59-14670efea52c phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8bcc360d-9d84-4125-9097-9e63e1b8699b phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fb03c2fb-eb5f-41b1-93e0-153404187916 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bceccc7d-60fc-4720-a9d3-665b55bc50a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e06b2398-ae99-41a7-9c36-0f5be7e9ef15 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f120f0da-94b9-4eca-a042-957a82b974a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:066c2b10-9472-4640-9c27-9d3ea7760cf0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41562d8f-ae21-4cce-8218-a29f8a436173 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80b0efec-a652-4f1a-990a-e3da9c5925f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b141a8b8-b388-4e10-a20b-523b918f275c phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a92c8f2-6bba-41f3-b6c2-b91949e2ed5a phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9b54751a-571f-40f1-9ea4-bcc6a87629d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efeb674b-0f45-4cec-b686-5307e755b99f phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de3552dd-0a83-4907-b3e5-7d15238a8891 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69c9abd7-5d36-437f-9054-6bfd4ececc18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:491abee9-1060-4e9b-83c3-9286641ffc09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1900ac60-c08a-4eaa-9d1a-8fec24a198c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b66f0b7b-e3ce-4467-9299-bbf748a74d8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c385a45-7dd4-4c96-bc61-76ba3ced58b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f509aee5-1e39-4f17-bd2e-1302d3331507 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6e1f348-3b60-47ed-92d2-f6d25029e040 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8dada7a-6a86-4d32-a101-f0005910952c phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7afab738-f85c-4dcf-81b5-e3f53d803b2c phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54c4f464-1b62-44e0-91fd-84b00b086c9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9612908-f939-4f93-9b6b-c790b51bae58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98c627a8-1da2-489c-bb62-b8ab46e0b9ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da705078-8aec-4c65-a5b8-675610a93dc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f03baf8-677f-4224-a5af-080cce0df9e1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:16283430-1145-40ff-8e59-01916fa347a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97b625ba-cd30-438b-ae67-721c90a7598b phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f380018a-7156-4513-b804-74813ee645aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68ff189e-0a06-4cfe-bea8-a99b59b909c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fdca97b-1b3f-41de-abf6-f853c7c3f00b phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:979a7538-e01f-4354-9eba-0ac00d8572f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b580d6dc-c893-4bbc-94bc-b7a05fdb9181 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67cdbf40-beae-415f-86d4-1b82040da18c phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:509b2b34-de4f-4739-8d0f-5f6b79e7f302 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:812b1437-2e7e-42d1-b4d9-fb58f0f7c0bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26bbeaba-8285-4c2d-a733-136181e2a08b phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc6cd5ca-3be1-4394-b389-80db6ad0da1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13673121-505f-4959-b855-54f9af4364ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6aff52de-d3eb-456c-867b-2b4bb07b2b95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8937dc42-15dc-41e1-b734-79202a515857 phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bf45db29-e3bb-431a-982b-9af2e031a5fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:04647427-538e-4607-8224-ddc79708ed75 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2b942d38-eb6e-4071-b04d-a35a4aed49a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4a3a9f7d-d3bb-4d81-958a-f18027d75bea phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f3bbb901-126a-429f-a43d-611311b97131 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:90789552-01cd-4003-a624-cdd4cc2e87ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:08f75a1a-4fec-4137-81f9-6e5c3bad5835 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5003d79-3b81-4521-bdb0-e02bb291532e phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c40c18a2-e345-429d-8bcd-10acafe52f0c phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bfc10e1-9e14-4ddf-90c0-8f636a326c94 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d08897fa-301e-4ffa-98ed-adf9dd1e24ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44095309-7c97-419c-9356-65bb85f810d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5e19064-9a03-4ef1-98ad-7b78f28a5451 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a06645d0-f516-4d5d-893a-eb932e2b970c phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3dda37c-4cba-4a1d-91e8-adda40a81a92 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4390a56-0904-4520-9436-a9f29af6556a phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a139a2f4-1cd7-4454-b451-f1ae73ae51e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88a40370-8392-4fad-805e-993f04d1dc9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9cb9369-996d-47db-9e8a-efef2d0b5c39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d97e864-42b0-4dd1-a964-2f63ac4f21fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35a4f4a3-48ca-4164-865f-379c748865b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41c58c5b-4fbe-4c5c-97af-77f54631c09e phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1dd34f5-f162-4b00-a5b7-9211cbd79d1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2291631c-2f03-490c-b117-ef728419eaba phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28fefb04-1aa7-41c8-bd51-0049e999443d phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfb1e221-5e01-4928-97ff-c8bfae2611e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7c5107b-5383-433e-9267-c801c6a88401 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04ee0e94-2efa-409a-843c-a1a8bbacc5aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:986a4a87-b32e-4924-9a30-0f7303f3baae phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37a33366-d9ce-4590-91a0-792554cf7285 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4672cd91-1e20-466d-8e75-0cdcf5651508 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77ccf3a9-eb3f-4775-8da7-9c1d2d3ab54b phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d57f2aa-6976-4cdf-8109-2c35d59634ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:453f2153-4377-4bc8-947d-3cae16b2aa13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c401e82-c839-4ad7-b39d-9f50a8919755 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97eceb97-2721-4321-9f03-2b05280682fd phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:494084f0-1f48-4da8-8493-eacfb9abc862 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2faec88-4cd3-4b47-8d58-5e6e43676ef9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4d990e6-c305-4a1d-9092-a8b2a01616a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b214a4e7-abb7-4283-ad54-ca1f9ec0c5f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3e2ac1c-7fb2-4665-9467-83697ccff096 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:997dc098-ff52-44f9-8ab6-02419ef7bb06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1cd648cc-9834-44f6-8fdb-40b9c42428a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99b51558-2863-4a81-8343-b2d21638956d phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6885fb63-1208-4c7f-8766-113b2ff26026 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3289c9c0-7809-4fc4-8064-c102fe9021c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c0bc206-f248-461e-92f5-c80ad70682fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca814a56-67ba-47d6-8f2a-61793dc97356 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:57fbcb37-48d1-4598-a0c6-d44c40b67a6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:daf67855-9796-452f-9449-858fb5bb88ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a64d4da6-2b75-4ee5-9cec-758af4355466 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d9d6e6a-0408-471a-ba8f-f62886a570a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:79832707-e319-4b58-b8ce-7ff0cd6836bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:dccf2a3e-0313-4df3-bf1f-86b5095def06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d3c62865-55d4-4353-9363-178b9119a4e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6ee75547-9282-48ee-858d-abe1f373d943 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0c09586b-6f07-4cff-a721-4657965d931d phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:67f411f0-37e8-4062-a81e-490d39ddf156 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4920bf9d-fcdd-4bbd-8162-090b67a0e572 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a1cec3b9-3820-4682-9f2a-e752899b63dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:eb7206cc-3e44-480d-a6bf-f197a2326e22 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52b68b96-170b-4deb-981a-e9a811b3e208 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:370d4ef2-d9d4-4d02-93ce-24dab256e312 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9e45561-3a7d-4358-8788-6278238fb493 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c717c76-6a04-4ae2-be66-8c40766c8db3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c759a50-944c-4ac3-8988-05936c0f9629 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bf80b63-c428-4535-99a0-3ee1326a7ec8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf44fa68-b867-43ae-87e0-476c6c06b551 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecc43d17-0f9a-4ee7-badf-e0ed05866ffc phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4eb1087-8856-4401-9312-552eb55f1f08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e55c50bd-7d2d-4046-9011-914209e319b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f444b06b-1383-4739-abce-ad17cf1a72de phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9252c0ac-ca1f-423d-a411-e5b90e2d9a13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1cd9ba04-1bd3-4b27-a3d7-a7c7367ef8ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3c9e923-d8a9-4799-a2dd-e47c6d5c45d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8251a5e2-adb8-49ae-a524-3a65e07878d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:613bb4f0-5163-4b2b-b00f-4c96be5ad30c phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7579484c-b8c3-4ff7-be96-05f5237b86f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b112d1f0-4148-4c18-9db7-7210d5e96776 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8b879fd-0906-464f-ba5d-03abd9ddaa70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9489027b-7e97-4384-899c-127fa6106947 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d3338d4-78be-41b3-9a63-7369098ab82f phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:021d04cf-5b6d-491b-8951-f1fec1688d3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45525411-97e2-4cfd-80ca-6d0fa62c3255 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c86c57d9-c1f9-4762-a207-f7f63dc1ca6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49fa7999-b04c-4621-bb0a-4ef9048eae07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90723945-c6fd-4da1-984d-89dc90a9d738 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6070d2fd-0e13-4a26-b3e4-97cec40c530c phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c323b45b-3ddd-49ee-aa15-fba7a46d5ee8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21dfe23f-ed0e-41a1-9a31-882d2fb693d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81e5e954-fb97-4c7c-9446-86c70bec4fe9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1537b86-ddcf-414d-b130-152676ba83ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef3c709d-f20c-49de-b089-b61c509cd0aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8e542c4-04f1-434b-b046-e827b3771631 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:59c31f26-88d5-4b08-8c44-fd888d4b54d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5868837a-9765-4fea-bb17-0a165382636c phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ca331bd4-5335-4835-abce-217dd10470ff phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a535ae04-5c4c-446d-ba11-174e1308dd53 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b3b592f4-c318-47e7-98c8-623781be51a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5d25a875-b1b7-4230-adb0-e90affb08cd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9a6bdef6-1b7f-4969-a58c-4e3c55a0cfa5 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cc0676fa-7780-4899-922a-16b0cf66002c phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:08fe7abe-e57a-4cce-b881-1a8fd81afe56 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:57a84b4b-f149-444b-9321-5863cb84af47 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6e701a56-a86f-4963-bc65-64882c724906 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb5a27d3-59dd-4e78-8553-ddb8dfeecb55 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:229b7fd7-614d-40a8-b636-f93366366e6a phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:120814d3-37e8-4972-a871-239dc47c7c40 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:959bf12c-6df9-4cc6-9803-ff31a46e69e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d9b13f4-005f-4582-940a-7a6c721c0f25 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a23ea217-4376-4823-a11a-4a087dba1b8c phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c3edb45-eb5d-458f-ba79-03bc8b670715 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b693418-a0d9-4121-badd-b425e43dfc1d phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65420141-2890-4633-98b9-ad4acd73612e phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a8bd31a-103c-4d61-a172-168703419030 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd923c14-d16e-485b-8b0f-df692444f5b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce3bdda8-636c-432f-9da6-72087565b201 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bbec76b3-866c-48a7-9d0f-b738adaaeece phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8be4429-7c53-40a0-befc-afeeb96f4392 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f50e8dc4-b1f1-44fd-a8d9-d7a12dfcbe7c phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7355fe49-23f0-40ec-a6ae-a03de01389ce phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c6987fa-bd47-4cf9-8876-1b10f2c5f38e phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c81a9807-ff15-488e-aed1-7bf1923df5fb phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34ec7284-e1da-4e46-9ed8-af279954d824 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb5e3905-3931-4d9f-b610-535ef4ea688f phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7113c251-4fb2-43e0-8386-15046d89222f phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ed04339-2357-4895-91c3-6ee5655b06b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ceb6ec9-c8a1-4f0d-8401-7a59f413da75 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06b191f3-b4ff-4b5d-befe-888674c01805 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6f4bada-3c5a-4cc3-b1d9-e522ef112497 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7de81ef-ee4b-4ff5-8140-9f5fb19a3991 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29c33077-8691-49b9-9729-03e5bfa1bd1e phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:15c53132-fb60-471e-b95f-3dc960560b1c phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26d8cb72-0316-48e6-8246-22d3a14e8161 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5686570b-036e-48fc-ae5d-d5286d8022dd phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d002f35-e7bc-41ed-b4c1-f0d2aedb9339 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:967e0ea1-9a55-4152-aee3-a50d8dff0027 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:07ed7dce-075b-41c8-b716-3313cb05571b phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a580e85b-2657-4d8f-be38-caa693eabd1d phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49a00f6a-e115-430c-b9ab-adea113d06ab phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b70c1d7-0fc1-4035-87f1-1ff0dab95161 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f09cd1ef-cbef-4bcd-81ea-483e0d75a894 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a46b859-2871-417e-ab32-5d4ceeb6b982 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fcf610cf-a334-408b-99fa-4bfaead3142b phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6842e335-69de-4c03-99a9-5ecfd52a3ce9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a66cb7ea-0049-410c-9e84-181be3931402 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96ba71aa-f710-44a7-bdd7-0fc9490b26fc phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:58682548-b295-441f-bfdc-f24d71833c62 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82225ac5-5f60-4d3a-aff9-2e6407e95495 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f89abc00-28e2-43ee-a20b-227daee1b604 phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:97df95fb-5dd1-4119-9276-e51ee1bc691a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6fb4a820-d293-454f-8024-a7c4f605573c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bffcd49b-5adb-44fb-90e3-80f0cbbd2e03 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2e234f94-82c3-4aff-a631-09bd54ccac5b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0ef849e0-3547-4eda-aab3-241175313069 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ae7a65e-f356-4cc2-80d8-c9be6c9314b1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ea4d80b-5b75-4457-a5bc-e001c00e7f30 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d1c91e0-0325-463d-96a0-ff6cafe6a272 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26195fd8-1071-463c-b610-1307bbf5b497 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c827900-b105-44aa-b0e1-dc6917504183 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab12c856-aac6-4547-838e-15d1e68df48b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99c4430c-b080-492f-962e-5b7639d3b49f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30d5aef0-d2c3-4bd4-b057-97f87dd7847f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0839f79c-ffe6-4009-9ccb-78848ea91857 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:086fa6b3-6189-442d-9511-edf5c98d9f51 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d97637ab-6773-431c-baa1-e79c45979d0a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56d92651-d5e1-44b4-91e8-e40348773338 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a22723a-c2d8-4fed-abaa-244fe45ca640 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94b745dc-8b72-43f1-812c-f9eb6f0b9942 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dbc698c6-c137-4efe-8600-c375b3e763d6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b03b6cd-649e-432a-bc17-35ed71c4f5ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54cdcc89-e0d4-4406-ad1a-991f0eb8a2f1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f2bb5979-ccb5-4f72-a878-655d311cc3fd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6cb66e4-7cef-4418-b310-e7e48ededeaf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:792bae0f-d420-4ac5-a5cb-ba55d278bbac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd045fd4-1647-4309-849c-d08d0c27f0a5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:807c91a6-8827-495e-bb7f-7bbc375221ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfdb7385-0308-4ae6-82cd-3db7542eed1c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8ca726f-4a92-4102-bdeb-0cbf953840e4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fcc41ad7-8f2d-42fc-a26e-f4bfcd87984a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a011a1d-2725-4123-8c69-b451bb79b58e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48c4fc38-0541-4896-ac61-c7f2c93976b9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cca626a-e159-4499-8779-d78efcf31130 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:177e8371-3e88-4602-9c5f-bdab570eae24 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1505389a-7ecf-4951-8c7f-c643643951f7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:124feb59-75d0-46bd-bb08-cfe8509ba3f8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ae1141e-93cb-4676-9430-70a30f9693f0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe3f5d1e-f1e5-4f3d-9935-5f02105c8f03 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da7c85e6-b637-4d8f-854d-e4daf5071013 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8940e882-5233-42d9-b029-c576bb311864 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a0c18ee-8e4c-4359-a94a-e2a4521756b5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7f4baa9-b287-42ac-bf64-33df88af2556 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae8a4176-1338-4fe9-a858-f231dbbc4d7b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cf40cddf-6047-4fdb-a831-3015af96048d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a149a5cb-a49a-4ede-9b9d-ee9d8cfc40e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c444c2c9-1fdd-4f33-8e15-1f980ab90c39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5f5853f7-cfe7-4513-87ac-858bd7421dd4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:312f069b-e492-495c-9a72-09100e5bfc91 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ec3feb2c-7460-4e83-8902-ebfa9d3e6fdd phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:90ba7e77-f80c-4509-b71b-d3f73b418dcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c7c082b8-65a1-4d5a-8fc0-2606b5c22268 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:97af97a7-ef84-4ddb-8ee5-12f42ba6268d phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:72ffc3d2-adaf-40bd-a2b0-592d30e10469 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:650f841b-2a93-4cd1-a8e9-e067ffc405f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7d49bd5-4266-4bd1-8b64-52a6c1ac5538 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fe93fdf-6566-4463-badd-e3ad24cf46c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ccf51360-2672-417d-b31c-fa84d9102825 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96b68bf7-8419-49f8-9782-8cb231ecf2db phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70498cc6-0cb1-4baa-ac3e-41103a1df631 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:58144d28-7b0e-4b91-a28a-e44279627176 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4c3bcd5-56a6-4b4f-ba1a-37e0b32b73df phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bae28ec4-49b9-461a-bd30-fff3869973a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4369521a-f1e6-4547-9386-2a152bcef6e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8d58c60-446d-4fe3-a2b8-c2a3b84f20e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:085a8f6a-806b-44ce-bbff-c2fe7b5f6799 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60125755-6d23-470a-a72d-20f3dde55234 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e79969d-9592-4967-9768-8f26508bd46f phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9537e988-c05f-4a62-b930-d7ef0448ca1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4a4b517-de43-42fc-9ae5-bc44c57793e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11c4ee49-c980-4574-b006-4f3a7667a069 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:943ff03e-7733-471e-98e2-2bb0c0999f02 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a34246ac-3d62-4475-a4ee-f58ebfd385d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b6016178-7297-4946-a415-35e686e94bd6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:375ca313-31d5-4b36-8b07-5b1562e24c5c phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5eb4d907-e433-47d8-8731-510fb0dcc0b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:16b2dd41-8702-41f3-a5f0-e8257f024e97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0f60e30-1448-4dfb-8de8-5fae7f667d1c phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46252106-6714-428e-8178-70bb0110b707 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca7aa467-cbf9-41c6-a6fc-4e5fca018d59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef93d0ba-8f7e-4e01-869c-cbd5d6d29d7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8000d760-4d84-449c-9615-829f739aa078 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f9dccc9-50ec-4883-962b-3a493748c20e phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10d90747-6634-452d-a061-8796511ecc01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a81171fb-04b7-4654-897e-be451a562d8a phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e049bde4-7773-45b5-99b4-f91c27eba06c phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c618cb2-76e2-4fe3-b66e-b72af3901ecf phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c416c18e-e4ab-4bd2-929d-7fea3b798681 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ec8a0dc-e336-4850-a5ad-f8807060f50f phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a7ffec9-6840-4d16-b3ce-1297521ea626 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c00600b-2ef5-4328-8eda-72d1f4567888 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e22c364e-0c78-4a95-8532-3cac32827e61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69932086-9d0c-4b59-8bb0-f981f6402bc2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dad11004-9a8e-4831-93c0-a08882ed6e16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72758ae1-1c18-40de-830d-12eca54b785b phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cedbe07e-8acd-4db2-afaa-ecfd1aeedd47 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e62d42d-c472-4b02-90bc-fced5e52c9cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05577fcc-015a-48da-90fd-cdf115b14727 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97e00667-bef2-4d64-af5d-8dc6ab013941 phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:6d0f29c9-c243-4db3-8857-0b4df154091c phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f0c8c3cb-dc53-44c7-b3e9-4b1d4ffe63d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c7c491d7-cebc-4f23-9fce-f4015dfd0c93 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a085c953-e9c6-47bc-9851-caef2dd1ed8d phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:290ba9d4-7e9a-4b67-b76d-da4d9be8d73c phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2ac30e0b-101c-4ef5-bbe8-1c72c881fcb8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b4ed31fb-f7fa-449c-88a6-775c99f9625a phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2873d04f-013f-4733-9275-fc3df448bdef phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f55eaf37-f4cc-4bd9-bf47-0258be0f83f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9f77eb5-575e-4c75-bd45-f18741dc93ea phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c82a6b0-d871-4b65-beea-e72bb9d394a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a42167a4-0d51-49d7-ab2d-09d3803e057f phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ebbc23f9-682e-4d34-839e-4567335e9bf6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6c962e9-3640-48f8-b9ce-a13a9ee4f31c phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ae782d8-482e-4c10-a93b-eef08c161bdb phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8ea00c9-659b-4b58-9283-80b0a7d32834 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5a36be6-e701-40b4-9523-55e4c0695b42 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd67134e-7ecb-4eec-9621-457e83085ed4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:090e1c21-e789-4590-8660-c7c670c003f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee794795-aeb4-4bf5-a959-f5004b111b08 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:072e291d-3157-4743-8f83-78d9e2677892 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ac8088d-87c3-4259-a62d-7424d4e1e89a phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:000f1370-86a3-47d9-bb0a-16e39099ac22 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19d09b1a-5f99-45f4-b218-1796b9490577 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92b1942a-5b0e-4ca6-bb30-ea2bc59f513e phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e1a8331-045c-414b-9edd-1aa1479a3fe6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b023bf62-97c4-4977-941a-6039f7a76cdd phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be75e9c0-b04d-4018-82d0-52c88406d0b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4794cacc-70ee-4229-8c7a-fc64f0ff3a39 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2cae62b-d81a-4965-a31b-b50145e6e95a phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:51a2f9b0-8183-4e36-9c29-851b041b4736 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9c4ed24-8ffe-4dac-8f0f-2979080fd0f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a48a1c7e-ce37-468b-9b99-39cfc90a2ded phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d4a92e7-4161-4a87-bbd3-44cb0dcb7ade phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b91d51e8-aaa9-47a2-88f8-d9e80c4455d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19b42feb-af42-4274-9ea6-0f0dca8a64d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4b9606c-eb7a-4557-b0fa-0827a41f5f67 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd23c261-0737-40b7-a3e2-c9e953e0da60 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:23ac62d6-f680-4317-85fa-3f7b2cd51d83 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec3dc99e-22f9-40fa-a39c-fa563d9679b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36b146d0-3f9b-44bb-a486-654015112175 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8348bd5-1bad-4513-a0cc-32bd6180c05a phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99d67042-094f-4a8a-b167-4a7eb1cc30a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4e1e022-0e69-4cfa-9bb7-a557b1935cd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72a935aa-42bd-4f41-9e9d-fcff1c28a03c phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe411686-6078-4682-9ba4-82b1f0a3c531 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53581fc5-2906-4eb5-a07a-db76e795ff7f phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6ec312f-2987-4988-b259-77d4e409468e phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36c8acb2-7f2a-4d93-a5d5-0ce49811b74f phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9cf993a3-4911-4687-b6ee-197af5718141 phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5ac40627-0252-41af-a4db-8562625765de phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c5ff88f9-9b06-4020-a517-1980a5bd4904 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f2f1a37a-cd21-4c7a-bc96-5559491cb5f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7c4d839f-4b29-42fd-bf6b-d3bfaf70ec3f phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:eb4b9f29-9e53-4357-bc4d-20a6dd244f70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cadbb56d-7598-495e-beb3-801870c4f7b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a571bcc5-a3a5-41b6-98d3-8a37178c8a57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:95bd7ada-6b17-45ed-abca-1af6a9e5e81e phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c314eac1-823b-41f4-a216-301669ddfead phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de2592ef-9a3c-4d5c-871a-bccf3a08cdd7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e12f9f4c-1fd4-455d-95de-3b4c060a2019 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bbfc7dd-ede6-4b21-b583-bdd95bfe3ab4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:560b40d0-65c7-470e-b386-8425e82e8e21 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c269b87-39d5-4cb4-83ac-95e9bf8840bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f41e76ff-07bd-4cb8-b2a4-f8690fc4174e phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f0ec065-e378-47f0-a660-b1d514805ea5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cf5a2c4-e886-46ec-bcbf-3395d40da068 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:680659be-7721-400d-b464-798cf0d73d1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e8a8516-b597-43a4-aa70-814580ae3ca0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24f2a177-26e7-4665-aaa0-77d33c3f6efa phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bededc2-c7da-4e22-8c13-139d9ab97bf6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4127ef4-4ade-48af-8c77-ce443ebf35a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd06bba9-6dce-427a-9ded-9f4e5b954aee phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d278e809-1f26-498c-89ea-bb94d6c8df55 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d72915b9-2469-4330-ba71-9d18a9bc7bb9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52819780-b08c-40f7-b5cb-9e0eb676c357 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17134866-91fe-4083-b4a6-d7a8ec6e7bbd phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b77f4e81-271a-41ef-bd80-1d4e8ce042ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97e1706c-63ff-4b2e-bb5d-07ebce199d4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed32bbbb-298b-43cb-a912-95c85b176520 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8a7a772-aea3-40fb-b0c1-8b30a4aba52d phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efe917f0-37b1-47f4-84e0-542373e64ff7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc3ffaa6-b2f9-4494-8e4d-690ae9b832bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2af334ef-6025-4489-a9ef-45a106d2e59e phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7c559fc-50d2-43ad-b585-ca2045702224 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91f94a2e-8426-41dc-978b-954dc61ca0e1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac293bcd-30d7-4edb-9ccf-414e398d11e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff4b36b9-8fbc-42fa-b110-100b3d8c11b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1d23f42-1434-4ebc-9bb4-12fdfb41f454 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f18b9268-6263-434e-b70c-ab29de5dfb50 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77c633fa-7e11-4ffb-953e-8fdb9ddcd8b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f9e00b4-9b08-425d-9fec-fd7f0fc00404 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc50f89e-2af1-48bf-9d4a-56bf379aa2b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4282892-a58f-4395-be27-fd609ccd6d05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fc45cc6-cabc-493c-877e-d92a2604ca14 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5efdbb6f-8f42-4fcb-96da-fddc62209528 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78c6d88d-bf95-4e0f-b44f-697f8fe124cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c1dee8c-1c89-462d-9063-07d6fe5fcb38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90e8cc85-31d5-4d33-a8f5-0b2cfdeba967 phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:03772e98-b338-4232-bc3e-ec4b739ff19f phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4b8ac941-fcf2-4413-bbd4-ad030e722380 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:72aec6c6-54aa-4e3d-b8d2-6f041aba29a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:64e23e03-eaa1-49a9-bbb1-d9a6c008dd27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:35b22ff3-97a7-4933-94d2-b77be77e34c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:720c4507-90e1-4e5f-9259-3401618f6fa9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7737e355-c276-4fd8-816a-2733ddf6fdaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b77cf591-fbca-4422-92f2-9c11980e6d9f phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8626ff42-8ceb-42aa-af58-7db19347ddad phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:740c59af-608e-40bc-9824-657239528793 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dc2a7159-1a25-47d3-b0b0-593195ff5e35 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:47374f1f-bfb1-435c-9986-bec690da8683 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6be8e97e-f163-4810-b3f3-d62775b7412f phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e9a04546-18aa-411f-b068-c9cef5635f1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:66e90520-cd04-4449-88e5-99de48db5fc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d209d7dd-a198-4567-802b-13961c051541 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45a7d596-ec69-461e-a32a-cb8073c57a13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e363657c-8c9d-47fb-a271-04db5eea07bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd752de4-64f8-4cce-8394-12eaaac872d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:804e560b-adc5-47ea-b6ce-6b26f66360f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a64acf0d-c5aa-4a85-8fc3-4dadcc91c5d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ed62bc2-b4b7-4359-905d-f34aaa58547a phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ef82f74-a445-4f8b-9011-b4ae71908243 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a44cb77d-e4f2-4f40-abf5-b489497d791a phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79e088b9-7b0e-4457-86c4-830b4611b9f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c922ddd-ea4d-4c01-a33d-28b60e7f4f4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a67f07d-cf22-45f8-9319-b7ad06ae5d3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fdb02bc8-fd95-46fd-b749-768afdd02c0c phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c626a74-5775-426a-b07f-6d9a7f32960d phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba5893bb-dcfb-4be2-852d-f9c48b05a885 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a246562b-7f49-4cbd-83c1-f8c4b88f5ea4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7601e9c4-d190-4808-8ea9-cf6aed34afef phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d27bb0fe-e948-4cf2-9c76-f274f20ded24 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27d99f31-b7c6-4000-a1e4-7b5f0dabd390 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:beb16e62-1204-4e3c-9399-cef89f3f3bc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edceeeeb-bbd2-4c18-a3f8-e54984f056c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:328cf78d-6c1d-4300-afbc-0094a46cf33e phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a69a3c07-fc18-4924-a3c7-2f2f45af5316 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a54054b0-3a4e-46dc-a009-d0e868fe680d phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a22f492-61f4-4ce3-93f8-da8d76eed607 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:046365f4-a4ee-4305-9031-381c0155e61d phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e7918db-cd88-403b-b60c-eb74193cb00a phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0feedc5-7226-416c-8ddc-ddc569f704de phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0860085b-f310-4e28-ba8c-7724660505b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa445eb9-d346-4fa4-8cdb-5aa36eed25a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f746642-94b2-4c37-88cd-68bf85395ea4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a274f81-11b3-4f11-b800-7a6a67ff7d93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9519f25b-ff5d-44c1-b4b2-834348ce7baa phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec78ce04-a3db-4950-a833-d78bd2be04dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e911f67e-84c1-4a07-96e6-d65b52ff0fed phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d53d60ca-6b6f-4350-8f63-461d6999a6cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1dc23b8-eb5c-49d4-8d52-d545def2712a phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:859beecd-1565-4b0d-bcab-af4fda14f119 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:641b46ce-d4fd-4b7f-8fe7-6c52b15fa4f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:861fecbb-e867-44d5-89ec-b70b01b70e01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d92910b2-f305-45ac-a329-385ba4a90976 phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e4fd69d2-39bd-4951-9bd7-3056fdab8946 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a8239eb1-0e25-41f5-9f43-6270356422af phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:766788f7-abc2-4a3b-8c99-5d2f815a164d phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bc04e796-4d36-443f-9f13-3ff5f7a47c52 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:62d30664-6bf8-40bc-84aa-2b540424c2d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dfa8fe24-19c2-40b2-be98-29fbfcefc230 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d94351b1-b62d-41f5-87f1-0de0e4c4dc64 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0fe10a20-0c60-49bc-8a48-f65f8073e85e phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3131022b-a7b9-4307-92b1-6d87ac1b61c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2fbd1c3c-0a5b-4085-9e07-c5c504d3233c phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c7f29a3e-aef0-4193-972e-122dd6bb7e06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7777574b-0aa9-4c5e-b322-0557efdb0286 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:580ddded-d376-4133-8e95-9674c0b37e8c phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ae6d1d54-9d5c-44fa-971d-c986a652da43 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:80d69079-1951-4067-95cd-0407c3b26c0f phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c02b02ca-29d1-434a-a5a4-032b38e0c56f phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5323d5b2-1786-4fde-94f8-88e1a56e8c69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17c2e7bf-4631-4024-a297-d22791d4a9e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2799a0b-add8-47df-9882-75911e66f893 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d47bc78c-2c12-466f-94ce-feaf738d2a29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9343e95-f6c3-4c6c-8e39-ee955602fac5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9e50354-2316-413c-8d93-d061b5e71495 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32e798a2-2111-48bf-9cb2-67ecc4463ae1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68579acb-91e1-4eca-8f0c-a69e669b1ee9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fdaa0106-b807-4975-8144-ee8f5f4d2537 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33f384d8-a2e8-44d3-96be-eb7a775d6705 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90e380ca-6e4d-4f34-8d23-79fe29537799 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b92092f3-a1b5-414f-ab1d-71802f6a8a4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e3394f10-7887-4b58-ab9a-264866dfc86a phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0303786c-ffb0-4535-9be4-f9e89b16303a phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4cde193e-9634-4bec-ab0e-db61430862b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c515b38-e9d9-445e-a0db-0dd26bb91353 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8bc4dd1a-c079-4b12-8591-28038290b6b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa906bb1-3766-414a-a457-beb716e5230c phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1f961c1-ff23-4183-974c-3b68a890194e phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b2e8330-c2a1-42ab-8ce0-6132c0295010 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b02fda9f-6fdf-44d6-8fa2-84bc5f084c71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:600d6706-cf08-4c73-a5d4-1c6ea08580bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a7fe1a4-bef8-44b5-8df1-8c4895f6ac97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f97aa99-7059-4a0d-9a36-ce685f3541b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e98c6399-089d-48ae-954c-1d6bf7be0ca9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8a1da4a-1800-4cf8-934e-813ebbdc83ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab603aa9-9caf-4c26-9491-6c27a356185c phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b16f5ce-ed9e-422e-b4d4-1a683bfbd768 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:439d4ef8-4911-4d34-9a53-1425519854a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54fd0313-1075-4608-b68e-97a0fcea3082 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d1e0d10-0ed9-4d1d-af28-3819ff9eb9d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:1da42f06-7767-44bf-b2b4-9174c06a82b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bb6e3c49-98f2-46a2-aeac-9250c80d3cff phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5d0ad3a8-60a6-46cf-a609-300ff074eecc phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9910a3ac-0cad-41d8-89b1-ee2accfad3e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8312a745-bb21-44d6-9700-16f24d41bdd5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ae7f567d-1414-4932-8605-b0344c78a3bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d0db0183-442b-4dcf-b63b-820d46f913b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:800b85f8-db3d-4adc-a230-3adaabbd1349 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2eac82c4-c4b7-48e4-8015-8451789fb860 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1171dfe5-150a-40f0-932c-6f3f49220ba6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1bcc2c2e-d591-4357-8d08-98c31309faa7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c930df7-b8d2-4b27-80c1-4189c07471de phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ab1bca3-b13a-4a1b-bc4e-17dbe08d9d40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0dc92d58-c7a5-4839-9a61-c343471ef8e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbcad11b-4c28-466a-9021-50ceee143972 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c12fe529-5fe5-4c4e-963a-d019ecadf96d phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d88d02f7-1c2c-4546-8ba0-33611ab0ab33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:42ecc710-39a9-4591-a6c1-c69646e3c1d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19456bfc-e7f2-4147-8816-55f03886208f phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef4bead1-f0e9-44fd-87d0-6fe5a59830a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa967b21-7e5b-4022-98ea-3696f7644646 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e26bccf-86b3-4929-8cba-7b4af436c925 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc6cf9ae-d675-4abc-8a61-a810ae9ee1eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61fa72a8-4d88-4395-81ae-0e64b4177172 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3550d78-5ff8-43d0-911b-8c5bea4493ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c434488-2ee4-45e5-b553-21da4b1d54b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31323fca-64f7-49f5-88f9-26a3c41d58af phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6374ace4-f109-48e3-b56a-b8499564214b phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4253a6a4-52a0-4696-9c77-893e40b0ce12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13b602c8-c9bc-4270-8e98-12a8884b8c69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98275923-37ee-4a9e-a041-4690031226dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:419c8318-2aa5-46bc-b80f-664af04a3005 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be34fb30-e02a-4f3a-8d3d-d913a6bef4b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ffc7ed4-3460-4009-a944-d89aa51b252a phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1fed214-7be3-48f3-9367-cb476ab0ddfd phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fc1bf40-2373-4f74-985f-fa056c1d0c7f phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2a550d1-ece5-43e4-b8ad-a6e4862c467c phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e1db762-77bc-46ba-994f-7bf3fd0f20f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae80998f-4d0e-4e7d-8fe0-653616945517 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:598dfd18-f4c2-4185-a357-e0dc799738fd phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d92d25d-e0ed-4d76-bd2e-c1fb44116195 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b13174c4-6272-4e52-a68f-b95c2d54d43e phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e84bee4-3588-4629-8ace-e6c5ab872da8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7374f64f-f7a7-49d1-86e8-fbb405431154 phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f58d9894-b90a-488e-9318-590ad9e2a938 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5ef08228-4f76-46c4-ada0-c7301654b78b phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f03f89ac-5399-4c2b-88dd-7f61b05ac45b phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d2c5b6cf-c08c-43ec-b65c-fa2d44c89640 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b5beb39a-13c0-488e-9534-579e8777c791 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8d2fc6d2-0355-48c4-ac1d-128bc025f4e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3d2ae4d2-69fa-436f-ad83-4f54f13afda4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09fa6c8b-74a9-493c-9924-4192bbd1c4ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46f49817-b420-46ee-a363-5a430cb3a232 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d229824a-1127-4512-81a3-503e1a26e5b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:488280fd-1f05-46e3-b67b-cddb9bc6864a phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:845b35d2-47ad-429e-8dae-c19072305768 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9acf8f81-22a1-415a-851f-25cec515883c phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a9ae596-03a5-4e28-8acf-eacbb65437dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9359a723-e0c1-4491-a51b-e278f928fde8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b632ce5b-b28f-40db-bbd2-5cbf7a7c29e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7daf6100-4142-4e9a-ae4c-1f95e6e43e94 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3117ad85-cc39-4a2b-91e6-43055b4f2d95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a7dfad1-ad43-447a-a1f7-52e0474917f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c9e9daa-5651-4e48-87aa-156595f88e3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a69e073d-9b65-42b0-8212-a2dc18d67026 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef5aef96-cd85-4ddf-9466-10db0a4637c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35535d8d-d539-41c5-8a82-b5332521dbf7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca3c0ee9-1f7f-4918-a601-799b1e666066 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb428112-64f0-4965-8b86-52bb47e5730a phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9a9430e-b6cd-4bed-a117-04d554987115 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10e157f2-fba5-4c8e-b78d-0c69cfa4eef5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:698d38d3-090a-4901-952a-6c0692a10588 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4db94686-7294-42dc-bd2d-4d1efc56fb7c phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a6ad9c79-8731-47b8-b99d-c454b88f2b0c phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64f03336-aa03-4f5e-8de9-8ce8a508fe54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bcace55-ae85-4c64-90ba-1f603cf6b4e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97d259ae-87ba-4c06-b50b-26ae4b5b0d4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81ce3209-dfad-41d1-815e-a1958b1005bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dcbf920e-527f-4dc1-a559-38e2be766604 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9146d9e2-c4e2-4a4d-95c6-39e006e49e20 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5cc90f1e-e87c-4caf-8815-4b5a240b9096 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e62b3e2-0a5f-44e6-b592-df24f71a2934 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ab21c16-822c-4948-81c9-40a6f4a50252 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fe3d127-2525-4c3d-992a-f3d6b96b72a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc807070-d734-47c2-badc-3410d55e3a16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:363073df-0b7d-49f2-ab22-54908d815263 phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:39d7e4bd-efa5-4064-98b6-bc46e79cc3da phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0f435ede-8649-42b5-ba38-840f3d2dadc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b13c3389-6e6a-465d-84d2-d12325b40532 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:444c038b-bcf5-4a97-8cc1-19f1de5e5f62 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e4a19f1a-9693-4afa-87b2-2b0f52f5bca7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:633244d4-e797-4190-a1df-2bcf76c364b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0b6e9644-01eb-4cd8-a890-e1594622bb55 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c8d031d0-9795-4108-a1c9-921e7aa55f52 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:95903b39-43c2-4420-84b5-1a92c2d55ebf phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cee32514-392f-4e3c-ac56-4161287a9bef phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a00f8b24-845c-47bc-aff5-1175948fc572 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6899893d-2cc5-4e49-a99f-c1dc5f1d0147 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d42dd112-f8f1-4f92-8a26-60a63332c7b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db32a402-bdcc-4911-b0d4-080abf7c38fc phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a946aadc-9b49-4d22-bf46-26bdcc1b3750 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67c7ef45-4e2c-4737-8a7e-f64be5d5a803 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d4b94a6-ca57-4965-985e-e3b7c0275ae6 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f28356dd-6cad-48ab-a9ca-e2357dc5264f phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9dd70175-0a07-45df-8fd2-1e796e28e22e phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78adc482-7152-4e15-8fea-92e7313d5d01 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc1a1afb-ade4-4a38-a42f-c32533df05d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2706c2e-c8ea-4f0f-b35a-919bd26726a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3eb9fed-2c46-4ab1-97bf-90370fb6d76a phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba2c0e20-6893-4c98-99c1-563b6b191514 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abc5339c-b637-4390-90d8-08c1cb9e5046 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7209de26-5824-4969-a836-3080d1e78db3 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5e3f7bd-d9fa-413a-aea1-98ff7d0a88e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb86d604-732c-4aa9-a66f-d4fcc126e6d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4216f233-7632-412b-9346-5e0bb6138257 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3e097fd-8f92-4866-9edb-68e6117985b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a10fcbf-1f6f-457d-a751-5b2aa907fd68 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af8756bd-987c-4705-92a6-24c82966e7a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:067c17f3-358a-4584-aa12-845bacc0eac8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:164364c7-1755-43c8-ae76-35235503f6a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2396173a-f124-47af-a287-9dd782cb5932 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:839b9101-57d3-4b6d-a80b-386e64993052 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:322db8eb-668b-4589-a928-bc68079a9ebd phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:744a4a1c-2796-431b-a563-db784a096897 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17c79b91-eba0-44eb-8246-ee0f91559154 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7c19d3f-ec86-4e10-8117-97e3463bf342 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e367fdc7-d61c-46b5-9271-5214da421ab0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4e1c822-cedd-4279-a3e0-cb7fa175ddcb phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20de4ee6-9d9e-4c2a-9de5-547e03b7a284 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8208f69b-eabe-43ce-9f16-2a039eb0f642 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d4d1701-22d0-42fa-b3a2-4a787a3087f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ee94aa5-9f37-44fb-986a-ca2a937f5dac phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a11e1694-0fe2-429e-8a16-009b886ab3fb phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca9512ab-e492-4384-a101-6674dfcac127 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:324af0ff-d608-4e43-b516-1de376e22bc1 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:127e6eab-58d4-4d5b-96b3-ae6ea7b3b992 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e265f5a-72e7-4c0e-99ff-506c42e66e98 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e60542c5-fab6-4b49-add5-9763deb13a66 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f655040d-25c2-421f-8fbe-fd66dbc71f12 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99cdb7bc-d287-4b9b-866f-d84c02c15979 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4a4bc59-b39b-41d3-b17a-0bf782b1a170 phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8a0b3aa9-c619-4d98-bdac-a94efd6ddc9b phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:448a4057-099b-4227-91ac-ebc4eb84ca46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2cfd1139-3ccb-4db5-9122-e549ed0c600a phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:787aa661-ddef-4672-9441-629291901e4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a99b2ba0-752b-4e3c-96e5-2585d504e1a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6a52d930-37e4-45af-91a1-dc89028ad74a phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c98c1fe2-28ec-439c-8cc2-5c165f64ca3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3b29fafe-4b93-4988-b44d-0277cf2a3b17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6ac45329-b35d-4704-8a5d-afe28be64e5f phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:248c237b-9f37-4be7-91f0-d46ea8e1d5cb phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:56e0b4a6-517c-4689-b41c-65fefce1f386 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d49c9946-2b1e-4f1d-8c31-4ae0ecfe06da phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ac5f352c-90b2-4364-94da-fbfeb131a4e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bcebdcf1-eee9-4131-9512-656a08803108 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0cf77ed8-7807-42e0-8a21-b84416d6c5cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:af1cb3e6-ee1a-4920-bf98-8af4ea444cd6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9806dc68-a0b4-44e4-9eef-74567c9612f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:00a23767-229f-46fc-8b8d-df563aae0408 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:401623ab-1cf2-4cb0-b373-99514c5f9b9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:144adbf5-96a5-4237-bece-aeb6ef25aefc phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:deed4b94-b869-4d76-b639-86f2e5855ebf phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ee2093a-8745-4e2c-9682-b9c6f69c4229 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:003ce541-cbea-466f-8958-108f5c14c77e phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88fa31f3-79fb-408e-a3b5-285c797d5f53 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f8b544c-4acb-41fd-868b-75a647e3d7bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fcfeb5f2-8009-44a8-8310-7b3212cae40a phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c306cc4-d12e-4488-9f6a-8e5a4170cd40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5a113e5-14d9-4245-83c1-69dafbdecd20 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a054a423-9774-47f2-a39c-cfe53fd796c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ad79a10-53a5-4657-ab2e-65d870cec540 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34c51148-71a8-4d9c-a31d-ea08f3c4902e phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9fba2302-ca6b-47bd-8d08-39818fad5e5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8996e4ae-6c3c-452e-aa25-6537603896da phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e7d800f-de57-416f-a2e3-463b133813c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18f3ddda-5444-42ad-8756-f1e43c9cca9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37e10a26-a8fe-418c-a5c1-95f522827042 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffb3f906-a2a5-4dd4-8b3b-1c7618abd1a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b1226ad-95d0-40a6-989a-61bf3350c911 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd0611f9-8cd5-4cfe-93aa-1c8d53c53aca phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19e393c0-c6d5-46e4-bc44-51d452fba173 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9d4337f-59c2-42ce-ba2a-cc50aec964c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9709385f-076b-4432-b580-832b0f46e6ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95dff793-4840-43c6-bbbf-92ed10626da0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:652eac93-6295-4d16-8694-2381b4816810 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fceac549-4655-47de-b024-1c1feb7ca971 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cdb3f3b8-47b7-48f4-b321-7090ffd900b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b31232c8-5f4c-459f-b1b7-84934f12332e phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:49502fe7-2eb1-4ecc-b050-c47ec8ddf123 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e093a409-a46b-4ba1-903a-b98e7dc20e17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:124b295b-c7a1-4c56-8e5c-3c183c621495 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e6e9fc50-9d98-41b6-a87b-55d3ae440374 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d2b42d88-705e-4611-a4ac-a5811eddc040 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:83f1345e-5db3-4c4d-bff8-e90499bf2af4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cbef3c21-cb37-4a87-8061-fc0d29abff3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e5ab1264-6d8a-4bad-93c5-242cb6588060 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e9f7479e-e6f3-4e51-9b71-8b17b788b850 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:926d0d4f-ecfb-46b4-86d7-3389d7292c4f phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a8222a22-9157-44cb-9cf8-f27ee93b6c40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcf48e7a-05b8-418a-98d8-34ff6d6977aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:080c8bee-48bf-4a53-92b3-5874310fac95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d398057-dc7e-425f-bdca-a6ca7e7c47b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:383b511e-c5c0-49ae-963c-1acd7488e3dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ef4a0b2-c8f8-42cc-9f2f-878507ae4a24 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b1f1081e-757e-4a70-8088-5e5a00372655 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d6a745f-f059-4de9-a8a9-432988d70f03 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:daa9afb6-9dd4-413f-9a5e-3dde70495041 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2ebc0e0-8961-4509-bc65-ab5e39d69b69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31cdfb55-c7de-4dc1-9ce1-10108a49b5e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4f22c94-752e-4d97-b21b-6216f006685d phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96a78d37-44ec-4fb3-a252-42d4ce5dac11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82e5a1e7-2d99-4277-b5ac-7b0478d3a713 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb69bf24-cdeb-4e1d-bfe2-5cc1cf99faa3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a37f73b-9d6c-4f12-8316-e0ffc72dc0f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4f13eab-3f54-47ec-a74d-93708b109a10 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34b088d4-ba21-4477-852b-fc7945b5b95a phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06b60389-1eab-4664-9fac-986e9d1de2ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a682bf47-62b2-4796-ad4b-b852f2d8b2d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b0b7cc1-cacd-4ffe-87ca-05ab887e608d phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61252e94-6f47-47c5-bd75-52b0397876e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:586cfbdd-ae70-47cf-9450-f01dabd3cbf7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca3979e3-6521-424b-b13b-cc8e7417caae phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68b2d5b7-c9da-41e1-be62-6ef48acaef36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52b2f1b9-9770-4d77-8d07-d09f52106965 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73674271-a5ce-4dd0-9397-87522e27159c phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:252c9e8e-0d94-44db-a158-57decada4279 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b447651-1c79-4ffb-a47e-fd331f29e96b phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8978c881-d807-46fb-8c1d-9c33d5fded1f phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af0bb137-b608-4f50-ad57-920fabc96ba3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:855f396c-5750-481c-b405-4b0daf75d5b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d306b7b7-a024-4616-aae8-8e3aca7207a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:600dceed-0676-4ddd-a0a5-cb2456374108 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab8b0818-3d79-4dfa-a451-8e5fad5eab42 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b81984d-a9cd-4a3a-838c-00c0d2f9e767 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c1ff9cfb-2d45-4b6d-91c5-4fc6410a0727 phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:83c87e28-66e4-41c1-974e-934d79ca675e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:86977ead-0108-4946-b820-d4659b790bfe phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d40f45ed-9b7d-4872-8aeb-eb9137275ca1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:91314a6a-a6c5-497a-80a3-80e89a3c529a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60fc9b7c-b1d6-4d3d-b5c2-a1a4bf8fabf4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aff7b462-f85d-486c-9185-6b4114c4b6bd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a9b73e7-ff19-400c-b947-4f4b8e732960 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4d35de9-a6a6-4def-bcbb-56f2006aaaed phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:756ee2d0-30b3-41ad-9761-7f71022ad9f5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d59fc03-157a-4d2a-9f36-8a7492833ec9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d47175de-f481-4490-a462-e9b97f4d924a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46226480-b140-4dc5-acd8-131b09e25a05 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5ba73af-1341-43e0-a371-33fbb3bf1a35 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:16aa21bb-0fbb-4d80-acb1-d57ea1d532a5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:486b5853-f6ce-4c8d-a80c-8086b3456e94 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ed63519-8f75-4d38-9b51-dc9198e80f61 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19741420-4d29-478e-9c37-32e410ff8f30 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32716ce4-7aed-4945-889f-16447b5bf02e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70b7eada-5238-4b3f-9cdf-62ef79c5fde7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:addc4a67-32d9-4355-b319-90a7177ce1c7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5354cf76-0a4e-41f4-9948-87989467b875 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bb65389-1261-46cb-b8b0-c3581ae9d72a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:16ea4d48-249f-4926-bab8-a8ed03706eb9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8965b1dc-9258-4772-81d6-7ba170a88a05 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24fc261d-651f-485b-86d4-19d10eaf8e92 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afd5d6f3-e67e-4f92-8837-cb42ceb35c31 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8834674-f89b-4e61-a8fa-78238acf34af phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98fc96e3-3699-4a6f-99fb-223947968817 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f006f6c8-b0cd-4599-8543-b627c971a308 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f01754b7-7129-4a83-8f13-2beee3a17d05 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4601902c-8704-4ccc-9bee-dfeaea92000e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af5a72e3-08d4-4d2b-a9ab-b5416eacd073 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7b052f6-8dac-40b6-9fb3-88381a935bb9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87fb8179-bf9f-4f49-9282-22b52bd8b339 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b2bc407-96e2-46a8-990f-40f540bf3635 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08666f7d-8b63-498f-983e-f20e9ccfe90c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65bf7bbd-a72b-4ee9-8096-c5ea971125fa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecc6c013-0477-4ec3-b25a-b38052ef07fe phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02001729-4e9f-48e5-a601-5bab486f3ed5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72cb79ee-94c5-4daa-b95f-3d323cbe9383 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b5711eb-a241-413d-95dd-15ae244f294e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09206fee-fcf5-4eac-8739-41339a5c0634 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6da324ec-d1e7-4048-85e7-afbc9240aa65 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01fd1939-9551-4b38-80b0-088c78aef347 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ccb116e9-f297-4fd7-a71c-f795fa82e352 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f17e4415-70da-43f4-959a-b49c945e509b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:23fd84af-87ac-4f16-894a-fb7d1915c9ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4b395e77-8a65-4348-bddf-91826ce504a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:46b15b45-f20f-4131-9a5e-4c45809286c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:84d94e4f-e9c4-43ba-9604-55403ab97e81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f832d665-9984-4b72-a2b2-7a06ad9f602b phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dbef57d8-af98-40ea-9513-5a72a646e673 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5d668f38-e107-4ced-be4b-1644088a7250 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cd93d195-d0a7-4753-9e35-1bf65bca8e8a phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d129d985-50ce-4b1e-aea6-9a54545d38a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fcf73a80-b503-4912-980a-55d5629c6f81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7bf29f83-f830-4943-83a4-cf936731c318 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bf2fc728-f952-4c6a-aad6-c0e042d7babe phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:18468039-3aa1-4cff-a270-59a1a55336d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3eb8e9f-7084-4dc1-b4c6-33a16b04cec7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e311c039-7278-4faa-8eb2-d944ca102215 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10d7a867-c581-4f67-bf82-d54e0ec0a88c phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:362166d1-7a54-4c93-a2c0-645743f736c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7954bfdc-d5eb-4d88-9d2d-391cedeb760b phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:512751fc-99c1-4892-a339-03cacf041b42 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5dee45b-616f-4f4c-95e1-c1fd8bf80eae phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf2f67ec-992c-4fd7-8c98-8315c519d1ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37c7ffe6-e152-48a1-9bff-a3739ac0006b phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f65bb2c6-d1ff-4f75-a010-5c9181bc2fc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be027897-d771-4f50-8c1b-d8c53e1f4df3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd6def71-2bfe-4dbb-b8a8-fc173b55d77b phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09892c3d-a5eb-4089-8a20-a9ba39a25da9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d269a4a-1ac9-46ed-a052-8d75eebb393b phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0eefc4ec-0067-4f9a-8adc-7dbb543d538b phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e66373f0-57fc-4b80-9713-bf05eae06ce2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ba0b038-f3dc-4120-b34c-2001ac529bd3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dbe248a8-740b-4212-bb3b-79d9dec6e720 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:89be664d-2f6e-475e-9d63-7ad09439285a phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2647816b-80fc-4b85-9336-6042e68d87ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bb066c2-5186-4669-a3f8-e7ad8fcc7876 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74a0366c-1d6c-40ef-9f39-049fdf3f137e phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:783d16be-07b9-43ed-8fa6-4d15cbaf065c phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c29fdd2-8e3b-4201-a24e-91ea3a5f356f phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1129d3ba-d8e2-4310-8cc8-7256769021f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:027600bf-3f17-4126-84f1-8470e10a0784 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09b72833-160e-46a4-88cf-02ffaa6daca7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2fe83821-6d08-43af-997c-e1a9889e935e phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45af6192-4a94-4cd7-9eba-4f8b5f884df9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2808d4a9-67bd-40d0-b590-31bf02ece73e phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:057ea364-760c-40f0-b958-f90cb95b3c50 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9518a57b-8390-454e-af25-25a9caa05bb2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9608f8d9-c270-4244-a4a8-d0a29607ccf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ddb9c2b2-be68-44e1-8f0f-c5214a32520e phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e6b77e2-a7c7-4dea-a6c7-c03d59f07f09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c802e95b-ba1b-4d62-8f23-c3444305c3db phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e449d84-572e-4e69-b9e1-3aae400e663e phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4cdad833-5cdc-48f0-8958-d55097968f1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c2a63d17-37c9-4697-a75a-9b0e903acf5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5f04d540-898b-44de-ab53-e7f5b4c3bb48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c62e237e-69cd-4e7e-847b-abb7325d9e6c phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1ec5548f-a510-4b42-9e25-acc9f39c4750 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cc05d34f-9cf9-465e-824e-fd2d51fd0922 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7087d631-d93c-4629-a96b-0684ace1ec1f phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3b55e0c3-7224-479f-8b6f-e8cf169d7adf phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:05403aa9-cd96-4a75-a9b7-1722d9e735bb phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0d79538f-abd6-4bdc-8819-e89546ee657a phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ff316a3c-ca8d-462d-ad54-be7eed8ccf8b phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ecbc41d5-0947-481b-a0e9-2e82c27eae4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:da1e20e9-ba94-4e4b-8bbb-df185d513e5a phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f60f8aa-0c14-4a2f-b962-5c0bb4082019 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0eea7578-1d99-4eac-b8a2-b023bcda492d phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71508b0e-8ac7-43e6-a0a4-0677d8a01336 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d7bd66c-d5b5-4e64-a038-578ca5eb2199 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03869f5b-47fc-4d9a-97a0-4f982e6d13c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f1dbf53-d927-4771-ae20-fd337c08692d phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be914c99-26b7-4c0e-b518-5ee069546676 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:688a9ca4-faf3-4ed8-a214-6d48d19eb09b phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56f26551-cd87-4100-8198-b8c53a46f5c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3441366-29ba-4b63-a512-f65bdbf2f0ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ccb0c451-2d8e-464d-9d78-aa5ab1e9a4dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbd5093a-5905-45e8-8a73-6d22471a6a4a phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a7bbd5d-39b3-453f-9d6e-f11534162a2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3be24bd-5da8-4e1f-adca-288f2141b437 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05364bc3-45b4-4f80-b11d-1440bc9019ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c86d426-278f-460f-9478-0db2814e9771 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b06a590-a723-434e-94e4-eeb74147897a phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bdaeecf-5b2b-400f-9abb-e2d9c108d3e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cf39f25-3d7f-4c21-ae0c-2aa08f498208 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb059d4a-cf2e-4fb8-a62d-6f693c3e09f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8afa8793-b829-468f-b8cf-079cc52b3a47 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc3428d1-5be6-4057-942d-0373f1e9f0a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:282fd922-f547-40a1-82a3-27b6c2873f28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:55b37b3e-29ff-439e-9c96-55a40b97c37c phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94bc0705-a968-440b-9ae3-4750b685f90a phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc81033e-b69b-47d0-b424-a27cac2e634b phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19fa81a2-6955-41df-a02d-f197bf3ce112 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca327630-9694-4822-9741-6623d2aff5d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90d562d0-c275-45c7-93db-cb7d36eb6a05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edee08b3-ef8d-4e19-aaef-20bb57939bb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f3ae623-e2e7-4c13-94ee-da8947d9dc6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13c5605f-7d67-449a-8249-3da863bba29a phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd1324e3-38bb-4bf9-9b2c-e6ff8da27032 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37707955-9de3-45f5-8086-b835d885df48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3ac3933-8fff-47d2-a7b5-c7976f86ae09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b21afa3b-4ee1-4386-97cb-669702350593 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1f3f0f4-aa1b-478e-9c1d-ac3f345926b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7e86c89-1722-4420-8e62-9d72e52af2a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44ba0755-a000-4b36-94f5-17fdc250bb03 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e804cc2d-27cd-4f5d-bc07-8a5e33374940 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c769ae30-bfe2-494f-88b2-e17ace8515d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b37cf6df-582e-4c80-bd3d-5ddec9c7f897 phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eccaeb6a-25d8-4569-af3e-a2274ba09f4f phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:70e0c664-6b48-4720-9567-56f4b506eadc phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5d50f6d4-a2d9-41fe-81b5-e0fd3e6f13ca phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bdf482d0-fe98-4763-91ee-01a5bb942bd4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:907d4f71-53c8-423d-b112-5a45139d8f97 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bd60d06-c0dc-45a3-8a7a-ce77b97fa55a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ca80148-4407-4b83-9729-1bda34c643d7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c71e36f1-cfbc-4f15-9bd4-683586acb6c8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:043a6e81-8e13-484d-97fc-6ea01bbc24fd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad24bc4a-cec9-467b-b11f-d20c67946320 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbee45c9-5447-4518-9d44-e93f3dbba39e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:086997b6-9644-4816-83aa-deb1d371e940 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9c65566-47e4-457d-ba08-7fa16fef835e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf5a22cf-b696-43ec-830f-953431ad4ff0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b2dfc98-e8f0-4cc0-832a-3a2974c1205b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95a66b41-e4da-473d-927e-4340008e506b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc754f6e-6cd5-4923-a2b3-cfc140ca5b0e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1d10302-e018-4734-8a9d-c353da5e5218 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f204c385-8856-4cea-9ae3-2efb6b110a1d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33b23db3-36ac-47f1-8a93-0edef9113ca1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c15e92f-7464-4982-99f3-06df1d0d35f5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f9acea2-d579-425a-9e65-dd47972e114a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:043618ff-69f4-4470-bf24-991b00fa7825 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8c9d140-0fc7-4086-8fb5-ecef061298d5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b51d9206-d961-4280-8cf1-b8d2769979c5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97d9df65-ba0a-48bf-b964-70b6a63e5b30 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ea589c2-f082-459c-9847-ebe4cfd14750 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aab14281-59fe-4b3b-903b-16d45494344e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:192560d9-3eb6-4c19-8d5d-30b500fd6575 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2a16f83-cdf8-4f51-9864-4d363fc71070 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62892963-4370-4e85-8c94-503aba075eb7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6af14f39-6b13-4976-887a-b94b3b33ab49 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cd77677-eca2-4005-983a-3056744929ae phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:867fb9d4-6c82-468b-91e9-81c27a5d3888 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:313129fe-69a0-41bb-bedd-fcd5d4047cbb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d402e52a-3caf-4035-b011-9ef42792b2b0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35e7a1cb-27c9-43fd-bb77-99c2fb7df5dd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68766954-1561-44ee-95f3-dc2a8ba317aa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18942c98-8ed6-4feb-9cf1-ba8c4c629f11 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ed537272-c5a7-4735-b95b-a5d4df0aefdf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f7eba8ec-23cf-4f36-bc41-277a4798291a phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f96bb7c1-d2cf-4096-a0b5-23ef58b7ae87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:812cc7a5-0094-4479-82da-ffec048e6cbf phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8237648f-56bf-4e08-b472-db09d2325cf4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0b8917c4-fa30-4743-ace7-c17b7a3bb496 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0cded046-65e6-4db1-9e86-a85fa011160c phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:79b2b08e-c18b-4eff-9ab8-2d201acb00c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bd228cd1-898d-4391-92c0-e0fe1e1b56f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d1c50c8-0abe-46f9-bde1-60a51085e445 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4cdeff2b-ebd8-4bf6-85b4-d76b2a64f9a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85c073cb-e5c5-436e-b470-361a4853f8da phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84001884-4aee-4ea4-ada0-becb67c8e4bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e937abe-148c-4cff-ab77-fb3ef3a7220e phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0a38d3d-c4f9-47c2-ae8f-09f6362ac0f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8864c2c-5721-417f-bb5d-17052e8cf4b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1838fb73-7e1e-41ac-a30c-b6191c6549cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04c3a5c2-4563-4b1c-845e-c1073a62e7a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad4a36a4-5f33-4201-a36b-a4ecdfb05024 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e88f3f87-d4b6-4829-908a-4b5a2e2cc411 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:504e9220-9567-47fb-8f1f-2593771e0495 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9bab02c-efba-4ac0-bcda-8d38647287b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b2250ca-c953-4016-85a9-acc034d61bdd phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:790cfe62-1b2b-43b2-b4ef-6285156d7158 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63be222c-6d87-4e3b-8b8d-fdc8c10852eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e89a7b64-9fd3-4ae5-9835-9bc6eb5c5bc4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18392738-5ad9-46f9-ae3e-178a52f77c46 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83eeaf7a-13a4-47c3-ba1c-e12d71e5b97b phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7c015ec-5fed-4b6d-9ebb-880a80d8f896 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92b644b2-7a4c-427e-99a2-c62c3e07d763 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28b0508b-adeb-4dbf-bfc7-10035927e477 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73c8e2a0-22ce-4f8b-bc0f-fcd147773812 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:371e14be-8ecc-4a1e-bf20-12203798485c phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0ffdc2f-99e2-43fe-878c-ae9509daad97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f767b36c-162c-495f-9a32-a139277aea6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d7c08ff-17a7-4002-a00c-5d8085939076 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf261dbf-6746-4d07-a4eb-267f6ab4d415 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f735e89-1737-4c2a-8bbe-80942b792276 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a26ef121-b890-400a-a679-c325a3aad6d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db069678-f119-429b-aa82-4439cb853183 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:478e33ea-a1ab-4f4b-b4be-71a5a653141e phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3656546a-ad32-438f-acd6-1b2220ba3ba5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39da4ca8-c018-4dfc-b448-b519d858f208 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0ac64b0-6f7e-48dc-a2c4-105181fea58f phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b15578e7-aed7-4850-b2f4-9880874c9787 phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2d902ddb-f49e-458d-bcda-c745cd45a497 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fd78a54d-fc31-450e-8687-4dfd6308b72f phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:78ecd097-14ee-450f-b252-0d3187655f30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:54140410-083b-4092-92e3-d5c2577c1922 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5545b76d-14bd-4fcf-9d8d-95df3d1211df phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:276d0c2c-9170-47fd-96be-bc6616e38a6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:05338a7c-d2db-4026-82d9-6851dea52e48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a1dc9137-4c01-4bf7-99fa-7a2dfbf87863 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7b36a40f-5f82-471d-b52b-bb8f3ddd8d7f phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cbdeb926-5026-43a9-8fa7-5ad75dd71132 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8e04b891-df6d-44b5-9d16-25ac90ca2160 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e1770b85-f3f3-483f-992d-5c2cae13287e phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b742bff1-4fbd-48b6-8031-13a4b6c9c315 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e63ff7dc-60cd-447f-aea3-ad25ce6a317a phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b1d3e4f-9d5d-46f0-8a9a-373e9449eef3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:775667ae-4d6d-4af1-813d-84d1f6425e41 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ff93549-5e29-4616-ab8a-9cc85090e8d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92f3dcd5-bdfd-4d95-a367-fcd9baa6a8ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8eda078-16b8-4830-acea-c24ee3adcd02 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be62096d-af10-4d4f-ba5b-cca06e3bde1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91597eae-bedf-476f-9db1-1f8f0748d46b phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1aa6a04-a967-4c87-a34b-b082e52e3278 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6a655df-7b9d-46bc-ae6a-43f3041c4ab6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edee832c-815a-43d2-88d9-cd0612b79b61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7227fac8-a1dc-4b09-af2f-58e129604823 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ba07d2a-c542-468c-b9f6-cc55cb8ff520 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c795408d-1872-465f-b3d8-a275e6bebf17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c59c98a6-2fa4-4334-9f48-e949ca4704e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d20ecc03-e6a6-46b0-b826-58d0c7f3afd1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9186e9d6-e401-4d20-9522-181fbf246fc0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abebd5cb-f098-42ab-b38b-1a1709371415 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6cdb078-33d1-44fa-9c63-0a6daa2a2651 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06d326dd-ac0d-4595-9e9c-18446b13e723 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc9e9af9-cd03-4295-a711-acf9ff486c9d phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a51a4649-307b-43b1-a394-12d64b2871f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95fed01e-1f39-48b6-8f99-222916def232 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:667c1430-bdc5-41fa-96a7-14f93f944c44 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aca9a992-3af3-449f-a869-21fe9601f315 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3991c0a-178f-496b-b248-a4e586bc51a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5e006b1-1b6c-479f-b9f3-24e5587dfd49 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4b88fbc-8096-4167-b1e7-0d181235376b phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bec35c11-ea65-41b8-891c-63a5b73d7b1c phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:854f1d33-de69-4ac8-98e5-a8d35da14bd4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8427357-adff-4890-b003-d574d2d38b04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e19869c-9808-49de-9257-3acb936110f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce05111f-5e0a-4433-9719-376ba36fe376 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc8a3a16-a1e9-4274-9d6e-b871609fcf9b phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92393a30-8c30-4cb0-b611-654e6f497a20 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0b7ea27-ba2d-4fb9-b4d7-b01e40a5e895 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7cbcc2d-5375-42e5-af72-5d8ca3ead298 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f786d931-94ed-4461-9b09-b01f7caf2b4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33b09cf2-8ad7-4295-b93b-5d7f7d984b43 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a682af6d-c22e-4e0e-a07d-5d58df4102c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:054f5024-8cc1-4ec4-a91e-9decfa287ff4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:58d1310b-587d-4d12-878d-d29e59ca4ae9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a5a4f220-23a4-4bc0-88af-3fe5e061f94f phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9f71a431-0cd2-46ce-80a2-5ea65731c903 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5dcea7f7-e0a1-4030-adbc-5886210704b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e2db9951-fd79-4657-839a-c078938872f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1316beb2-326a-4d59-9e6f-60b4948c5af3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d964e1f3-6aa8-431b-8644-37ebd1481ccd phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a2b6f570-994c-40c3-be97-aa58227cec83 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:88af2882-69d1-440b-8fbd-548933b97848 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:169eacdf-edc8-40e7-b258-bde2e790a129 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:336306c8-1d22-422b-9d5e-a7376ae2c4ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:784b6920-db2e-4db2-a9e7-340a190ef044 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a02757a1-378e-4cca-bd63-6cf0e5ea42fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:79e92cee-7a48-40a4-8081-68a98345f5a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5fdb8ea2-4bb4-40f8-9b2c-a5adf9353653 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05b77b16-8ba4-4ff7-8efe-2192d0014cf2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbe634bc-ab0e-4d0a-b1a5-7b9c72655d98 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b63cbf3-931f-4a34-8bfe-317a80079a3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c0ed6b40-43ae-4c99-8a6b-28877e16e8b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:acb2799d-e502-4111-b0d9-efbe1b064dcf phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d746729-9c02-45b0-a003-897343793c12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c296b886-e055-4a7e-9dee-5255d832660c phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a956355-affe-4ef4-b605-2e1aba7defcc phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92884dea-8d1e-4c82-8807-1170c7748e54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac5886d9-b517-45f8-92a7-fa047738eb4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2962b909-14a6-4261-bbc1-b973a30286f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a11e0ae8-9bb2-4f72-81a4-68915723b5b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9baac61b-2af6-45d0-8ab2-11e153ea50ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9326163-6384-4cae-9d76-e7eb4989bfd3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59c5daac-2997-4e90-bed8-9dc1d7e15428 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1d7f5e9-8a14-406b-907e-5a3e6b4d25da phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b289d229-6899-4171-89c9-df1533b744cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1801431a-646b-4a22-acbc-c7dd97ea1b2e phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d693d12c-db30-4624-ad32-77640e75201a phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26802e6e-fdf4-443d-8f68-33c6568d37e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1afe1723-6d5a-495c-917b-687ace5e2412 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aabe99a6-b88c-4b12-ab34-563f2567445d phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea2777b6-200d-49c9-861f-092472840ffc phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21d7cf74-32fd-4194-afe9-6a44c9c3e1fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8649c843-ac16-41b4-84bf-63a6c621aff1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cba9f26-1ccc-4377-ba31-52907975c966 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e92c69f-6499-431e-b8d2-eb1466ba5ca7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6df1d6f-175b-4024-b7a3-05d76fcdcec9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdeebe4a-9fd4-4a07-bc13-c3c01f46a7ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e4c2abd-b2dc-40f8-9163-fa1fe5482fb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9dc25f4-ef74-4ffa-a0f5-a6db8cfdbbf2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:affc5c70-5c09-47a1-a5f6-a7041849ff53 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:162d8a13-b48a-4f02-9793-5602e211767f phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e229fc5-bbf8-417a-9b5a-1d2c551a79e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:031554b7-3b1a-4f73-89dd-50d63e5479b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6da64d1-5837-458f-9755-ec3e2867ad11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c106e8db-7dc8-4983-a0de-c9399dbea8dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a7b13d42-1c49-474b-9743-5a279e9fc5db phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:09f8d49b-bd09-4035-9ca1-f63fb37cba23 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e590d480-9dc7-47bd-8a56-78d7531337ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:faba092c-de0e-41af-9484-c5bf926e38d0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8ce69774-742e-48cb-b1f5-da16cdfa52ae phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fecbf9d7-ce0c-4c35-a5ad-3cb3b8dabd30 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:42c77350-31f4-4d61-b0bd-5001ad273d38 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1fa99820-66da-4d5e-91ae-4077dad1038c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0dfea6d0-d1b3-4885-bd16-1162b64475a2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b8e5d20-fce3-41b5-b79d-55a9bb1e0404 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db755909-81c4-4085-bcc9-c85ea55bcaff phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f110976-eaad-49d2-85a5-69066a0b3407 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb42d885-36b5-4fdc-826f-dd4ad65b4afa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:142c67d6-4308-4d7d-8164-e642cd26fbab phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b92145a-fbf9-4d1a-bb1e-6e0fe0be99cb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60e359d6-1396-4a34-9991-1b2a70420652 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4be65261-b7b3-4e45-86ea-e2e961b0302b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1241f767-6db0-4e98-9aad-236eccd42663 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afa5161b-7a35-4fb9-8cf4-8ddcc65461da phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02775d42-a005-4667-84e0-f30960f8ee7a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c684afb-1a89-4402-bc73-af4f6e47728f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2478322a-5749-47e1-8b5f-70baf817ae94 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:278eaa64-1e08-41ec-91c8-88f0fb48c3b8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4daae0e3-d243-4487-a6c6-07dc6aac7303 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ecbfd28-fdaa-43f9-82c0-5d1385919818 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7fa4107-d411-4ef7-bfd7-127db3443d32 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e320bd4f-92b4-4abf-ba03-89b1c9908c79 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:804461c7-2659-4c1e-b488-c8deb6f2bb8e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c2b59a2-733b-491d-82f3-348b2060e6b5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0df75f15-9f26-4e79-8e84-30b149ff48bb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e81ab59a-c2b5-4067-8c62-ad8a75dde02b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8379809a-12e3-4cca-a28f-390114b11cee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5778905-6fe9-4a2d-89c6-cb4040af67e6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ad9c6c8-1fa0-4bc5-a239-c36d07a29b44 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e155925-b745-41ef-bbc5-5594966de1af phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e00d7467-81c1-43f8-80cb-1c460e139fa6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a272d5a8-0f65-46a7-9f05-9021560d669c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:849d38ec-f73d-4a34-b8b4-5e1715da59d7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d5167fa-c826-4a00-a10c-772159d9f0f1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93e7fde8-7cae-498e-a563-729578255171 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bc79107-2eaa-4eee-a640-34ed3e17b140 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62443c61-1b4b-4d25-a6c4-c2531e19abb6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:948eb0de-c35a-45c1-874b-747f4c6be155 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:eb4ae63e-1bc5-4ada-bf3b-7325e3c4ec62 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b72ed746-ceb4-4510-a951-6bce092fffb2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:30b84d40-9915-406e-b810-56a97657d8e2 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0b9f1146-fcde-4518-b013-5bb4f5b2e32d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:82e69b24-c515-4405-ac5b-dd455c9f6f17 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b562780e-b047-4c5f-b78b-a21d5cdd6d62 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9061ad03-c0d0-4e11-b10e-aedda3bac337 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:826e5deb-60e8-4ba5-b53a-f12d3ea8bb48 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:054863e6-8fb0-4d0c-b172-87aa798edbec phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:66e7ad79-b3a6-406d-891d-fa1f70659800 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76f5bf0a-eae8-45b4-a227-55670df39b10 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3893b623-0dde-4dfb-985b-ce7749f1f097 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:948efdeb-4f6b-4c05-a719-c03d448a2921 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f5a9f7b-fdf0-4684-a3a8-509b75dac511 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46096091-55ca-450f-8e37-6004b2fd82df phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c5726b5-7930-4ead-b133-8f3b8548fd1a phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34594600-a396-4ad5-b97c-130a8b411e92 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f41a945b-6d5e-4109-aa1d-e5ec5b56ad66 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61608f29-0343-4897-a20d-14305cbc3008 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:158256c9-cc7c-4ce8-85ba-6f0dd1f9c28c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c83925d2-4a32-495f-a61f-9a9a069bc512 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0621eb7-a74c-4a27-befb-f7416b844d62 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2cce3d0d-6285-4755-b420-02604676c426 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7cfadfc9-1c01-48c7-a749-cb15690acf3e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46226b30-5823-448d-b8b4-a1296f1b58b3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5674613-74c2-4988-9051-087346642170 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97df2e3d-f46f-4142-a6ab-17bb87bc556d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba3a4de1-56c6-48ff-a70b-c7e179374c88 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5898b20-2bda-4884-b55c-1cd9ee77ebe8 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ddeac642-2f34-4b35-ade9-705d2951d687 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b9cefbf-f4db-488a-a7df-ca99d3d0201d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:891306d4-df76-4483-b8f5-579d7c62bee7 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a0194a54-64ba-4cc1-a44c-073fd157396b phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dc60eb61-a4a8-4529-825f-5dbad22d8934 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7fab2724-00a5-457e-a7eb-ffd65cbd0652 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cf5809ca-b30f-4257-b3a4-66da147556d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5391bf32-a221-4f79-86bc-f6f93c32c232 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2332732b-b578-4757-8b10-51a2a08c0c81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c4871ef2-3c71-41a2-9c2d-5e4add163654 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:91d1c845-e5cf-4530-9d45-51748f0c4e06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:372dcbdc-68c1-4013-bff3-51e56df52130 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:460711c7-f068-4951-8e5f-65a3ea48e67c phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5cebba1-f188-4351-bb8b-940a3b2525fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:42cf0080-a6a7-40dc-8967-cd19e1fefb16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce8e1b6e-1f95-4e5f-bc3e-839245ca176a phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4c77cf4-343d-4f01-b2fc-5a25f21b887e phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:101fdd66-5549-48b0-91cf-3eace2fb13bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4a881ae-27e0-4119-ad94-6d232d3e9442 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abe4f354-ba0f-4b1e-ae75-fdf0127fb26f phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61ef24ee-16b4-4825-9df9-8f5b91cf5bc9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77da3ca5-0270-4a1d-a3b4-5d8a3d45d975 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b4bf7a2-d2a5-492d-88ec-f0cb3d178aeb phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df13e607-80cc-44e8-a534-920582df7a05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1897173e-0f38-4a9a-8ccd-ff2fba1b0f6a phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5f8119e-b792-461c-b233-9c27513f4594 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd0c3541-74ba-4138-8e8f-65e5c5095f3a phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bab6d14-6367-4729-b10d-017e26872376 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2beff326-b3c0-4f21-b716-8bbf07ce9fc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dff134eb-a90c-43ca-984e-6f8d4343f883 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62cb081b-a6fb-4f77-8b20-484a5d987b70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8ae00fe-c9be-4c8e-8d6d-3a17ef23e455 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:488c048f-6bd3-4cfe-9074-6c32794f3372 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62d9464b-87ab-47c7-a048-608aa3dba477 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce66c6eb-377e-40c7-bfc8-eca1ea9a4ac1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9aa0e1d1-0d6f-4aab-9f01-3e9854f60b9b phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:491fbdca-e7eb-48b0-978e-54ac220f8487 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c31a61e3-24c2-4a32-86e7-cbd13652229f phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d142a11a-afb5-47ab-b458-304969c429c4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a769a29-b7c8-4d4b-894f-3d374cd8e45a phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa3bcd67-8dbe-49c9-9c52-877cc227f7f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9545b4ec-9489-4098-a812-0b66337cec69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a63f9fd-0fa0-4daf-ab03-573dcf4d424e phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac4364cd-0703-4df7-9d52-1b2e51df2913 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfff591a-f636-4a32-b2a2-46f2238f8af8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40305246-f873-4c28-b870-465269d48e90 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c0746c63-2271-4e06-b752-1a10e7d13b8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de743b5c-da15-4005-b3ec-e30534b2ce26 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1689d5a-083b-442c-8ecb-ebe574d00dc1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee1c7c82-3bd2-4a7f-ba80-ffd32fa2995d phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1fcf877-15bc-466c-9707-3ff25a00064c phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:486fa132-8d09-476e-87a0-e8d5ec061079 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8835f834-ce67-4422-9d29-2079c609f7d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3ddc49c-52e0-457c-ab9a-6e3621283507 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0abea42-d7b4-4992-ba65-7e63328fcbc4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dcc809e5-06f4-411a-ad9e-0ddf7c3b264a phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c1e0eb6-963d-443b-ac1a-d1d9cf4879f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e0b5375c-a9c6-472c-973d-3fb4af3e738d phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bc86acad-b956-4c35-b043-95438abd9fac phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6e588816-4ccb-4371-b846-e78ee5d4f418 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e65e8ffe-e85c-4404-a8bc-60e1afae810c phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f62a4568-02c5-4878-a973-8a168ae16162 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:51217518-4105-4456-8bf4-e231330ad37c phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2206ec0e-369a-4591-aa7b-4dbea01d0321 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ae4e324c-cd26-498a-9d20-aeb41ff4de7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:806a7ec5-9943-4b5a-8758-219fa520fe77 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7785a18a-f09d-4ff5-960d-e3ae9c9b14a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f2b2f1d8-57cf-4dca-864f-5575ed1e1cb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ef19af9b-12f3-4826-9652-96c7ba62aaeb phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:17dfe3d9-cb97-4ff7-8ff3-ab3e5aeae290 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba269206-bad3-4dcc-8559-1ad5957c4255 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70d18a76-6fed-414b-8efb-c52ed0e0e073 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d377b9ee-cd40-494d-b116-4800ba0ca751 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db3ca2de-d415-402d-b4b0-f8604a6394dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8d6bf00-35f7-465f-8c46-d2c6c528df68 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c04ea00-8854-4385-a488-0dd42f37000c phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f49d0ef9-f941-495d-b7b4-b6b8a814026e phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae63349e-fd36-4a56-b809-3054d41b93fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1864284-f1f6-48fe-b1ae-5280c11e38f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:071eb028-afb8-4b11-bd72-0d866466349a phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8ab3f83-99a8-4738-8283-9210352ae05b phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0b7e5e5-c4d6-457a-b4a6-1e5f5e49c9dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce364d75-e1fc-4898-9284-c2e739173130 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49c45224-3717-4adc-b152-22d8ea527c12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88029c0d-0ccc-4e5d-b1c3-8aa491608ec3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d11a5f9-2444-45b2-93d2-69eb770dbcc2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:219c11d9-8d86-4d46-b094-8995efa8a1b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1c08dfc-3fef-4ac7-84a3-a9c797a0a505 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c688872-2568-4823-b39c-faa415b52f33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f65e54ae-7fb9-4eba-8099-448b8eebf3dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:002121e0-8922-47c4-b561-2089a041ce2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f067a278-2899-4b2a-a135-54c1c25a508f phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:468b61ab-f284-4ede-bc5f-5e9046a7a83c phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad760a65-0f11-43d1-8b3a-060b2cc18e0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7d0caf0-a480-4029-8cad-6452286320e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba2f5900-790c-4372-bdc1-e45264e7bfa4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4b4340e-98f8-441d-a9cc-f06a438ddfe1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1168f443-7988-48bf-8baf-6bcf65247c0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f6b6431-dc07-44b1-9447-1983fc04c75f phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1b892d9-c1b0-4f3e-9545-073fca7cbc96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b1c41ede-b381-437a-8760-1375760973d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64906c07-97c7-4ffc-9e80-94007336d201 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8c1f63a-e10e-4d90-948a-20af11f9d829 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c9e6d0a-ebcc-4543-b547-c0255b5d37bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd4004e4-e8a0-45a3-afe2-c5a196b2625e phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d48cf0e-4fec-430a-9175-ec8afc6a2638 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb74c4d1-1d62-415d-b587-162f134862ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26c2284a-6d72-41e7-bf36-87580b7fa015 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:47eda6e6-8f90-45ec-87f9-55a9c3f1fe56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4b12483f-75db-4a53-93dc-d3dff953fccc phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c3edd979-12b2-4607-a5f2-974ef0b42f08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a79095f7-d7fe-45a2-b355-3d4409794c7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bfa482f6-be12-46d7-8aec-007eec110361 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ad304c71-b516-4f32-91e1-c3c4b201ed17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:046fb496-a775-489c-bf23-970af783bdfe phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c9d83c1c-78d8-4d44-9475-f1b66bdf66e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:85c02af3-475c-419c-8139-8889b0af2c23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b1d05966-6c3d-4c0f-8bab-de1e1bf0f17e phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:907ef430-53d7-4a19-91ea-b07c4e42284b phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4a5ccda-b31d-40c1-b4fc-06fec6f9fb8a phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c0d6d28-c142-4227-a0eb-a575fdcc2f2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78c57dc7-3c5b-41b1-b5e9-16b1d03f5588 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2aa4dd7f-3114-4196-8d08-5d70fd14cbdb phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ccd8b2b-f964-4e12-a44a-47b187d5bd0f phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1084730f-a8b7-446b-8fb0-04cd404484b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:063b1c18-db7d-40f4-8c4d-135d9ab9a4ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76d70a39-b86c-4365-90df-605e6310de17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49fd491b-abf1-4ef7-8385-0d71bc9a6573 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:407bd20c-6bc0-40d1-9ac3-ca29b0b6cc20 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1b77ac8-a732-406c-b240-ac275ec7a3dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac27034b-c271-4fd8-a745-27632952f870 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31334407-5588-462b-9397-5635706a75c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81315266-7c45-4b51-bfc6-575ec98259a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b919e4b-3b09-48b0-9bd3-e7581558b411 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f515cca-42b8-4161-b56a-fedf697d9fef phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94722b33-c36e-460d-941a-582b688c7a40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a7b3564-677a-4fca-9dfa-ed625ddcb663 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb35214a-87c2-4fe9-8f9b-3814f8d208ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f1396e4-ac1e-4bcf-a721-fca8a73f0744 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5551f1e6-16b9-4f78-8ada-794536325160 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80f7df1b-0fe3-48f3-8a0a-21f953e78624 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d178cca-d5ac-47ad-80b7-edfdb69672a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5b5d941-2d6f-4fbd-a2bc-cb2c1db34e65 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b539e127-50cc-48c2-ad57-77c887fc715b phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1da42167-2ea0-4048-ab6d-e2bac3279220 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca90febb-bb14-4b75-9cec-540b64aba45f phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a38eb56-93a7-49c9-a5c8-8820daac50dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61cea40a-b000-470f-8b31-f3de2815bca4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:217d40b5-846d-48db-bb2b-6790dce4e702 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:061f6572-0a54-4c2b-88e4-deffb6a9dfbe phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5afff05f-34aa-4260-af08-212d042e6c70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19ad9996-714b-4871-b1ff-83e8ff79ac9f phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a81fa7b4-4533-4aad-91dc-95de06adf469 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04745741-3fc9-46bd-ad34-1d1b0db4775d phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:988405d7-034a-46e8-af65-5cd1087acc16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10e88cc0-6b72-47df-8e7b-98ba6fa868d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:204e6de3-d5f4-4c66-be85-d57dc4e15e50 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:679855ae-4a64-4484-9180-b9c609b0a5f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab29c8a9-aea8-4192-8f40-ff538e0d9470 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65600cfe-a860-42ca-8175-706bfdef00e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94eabf02-19db-47a0-9fbb-9898472b9ec0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f93abd7-797c-4537-82df-06951aa9ac5c phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:61b40c9d-89d0-4ec3-8f74-3edb0f7e969f phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:84e8607f-c88e-46b1-b06a-92c91daf3778 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60e70a59-fbd5-4ce7-8f83-db4b1d56e9b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:531a21e1-0d48-40d1-b02c-d4e2c69aae25 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:627fb7b9-f7fd-4ef0-a702-ac50e53e8d3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dc5b8089-4a03-4dc8-a686-2f8c0001dff7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:04703af9-898e-4e64-81fe-153333f63ad0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e8b4486a-e8b0-4003-af67-92eecb122147 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ea0c1d90-e9d5-4551-ac8c-05a8661bbe3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:195ebbc4-ded2-4e2b-a599-1ff1471edf11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f40ee83e-8d2c-4c05-aa51-298e5c011a8c phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1478aedc-df1c-431a-97ca-053086cfc61b phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb323844-c1cc-4c1e-a3cf-9b052d6c04e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a4c7623-380c-4ba6-aa21-24d86104f8f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c27599e9-56e7-4f17-ad2a-c8363b578098 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1be0c3df-8f04-4099-9ea3-0342e0def776 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0feb21bd-d4a4-4227-be07-a05ecc15bb87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9124380b-c5ef-4986-901a-739f6fd4c7f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19e0a0c0-4f68-4e0f-a925-39f689cc2d42 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b2b22e3-0bb5-4bc8-832f-c27ed928931d phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45a8dadf-106a-4e93-bea6-96d7c40fea98 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a064afa-79ff-4415-b89f-f79c9a6feae2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95f5a32a-9684-4ae7-b2b1-c02a2f3f66ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4da802e7-205c-4a90-8b07-394ffa6944e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dcb10cf6-7971-42c3-b715-005ad24338b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9828507d-440c-4a24-b381-72e0e129dfdb phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d000679d-8392-4122-89d3-df8becaccdbd phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:691c9507-2352-4188-a4ba-06f9d8611765 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c05be11-2705-4cdb-b344-7ce24978198c phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ddd9890b-715a-4c4f-8bd2-045ed6d6a5f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9dd2414a-6f19-412e-8300-85589e7120e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65012796-2c17-47ec-a097-fcf22dfe255d phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ccd3cb3-b27d-4b6b-9e57-a17d2503a5e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76d7287f-7b14-40ab-8995-e734953dc2a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aaebbf03-98ec-4f1a-927e-ce1bdb14732a phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:14c39c69-bfe9-4c3b-8840-02576ff3a08c phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9cc9f4bb-b02c-4b10-b0cf-038b77a1d166 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c08ddbc2-0973-4af2-bd1f-0247909d97ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33a7a3a0-2549-4a00-bf0c-ac3c5760b317 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45725025-a984-499f-8fd8-7fa10f379b82 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbb8ef19-1687-4102-a76f-a4e83cd23173 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a76c1c67-8bc7-46e2-b3d4-dae05d993659 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f5dfaf0-ebd9-4ec7-9c38-f5e2ff3c8c01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c7c4fc0-e31b-4456-aa98-584c3ccb5221 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b431e4d7-4dae-4309-b8e6-cf5d22680449 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b747dcc-0fe6-4e8a-afcd-28616c4586dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18ef0605-129d-4172-8550-b28603353f47 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5bf7d2d-2295-47c7-b4d0-433a8a16028d phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93d29f94-2a34-4b10-9060-305d8c3fad02 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:596dedb1-3cf6-4187-b634-47c4413b98b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ad28491-a88f-46c5-93fa-93766072749d phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db75cac5-12dd-4e82-8ea0-66d674a1bdd4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d86f18e2-83db-4139-8fa4-b6ee7bdf7f81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d7a71f31-ca46-4a1d-8b86-fbd87405406a phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:01ab957e-9ac4-4204-ad14-5b36511f6378 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:62fdaff2-4463-40b7-bdcf-41289a996a32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7e4634c6-8dfd-4f51-9153-e6d69988c561 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0f8914d6-87f1-4ed9-8c53-7dfd693049ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:32c4d59a-4de9-4992-95e4-07fb4eb5d046 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6fcedc9e-6cf8-44b8-afd3-de405642f4b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:19cc1ea5-9e38-4d7f-a72e-da70cb216b51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:98b041cb-7d90-4e6e-9e8a-5c270742a383 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9c7a7abb-9dfa-481c-8171-71cda02e4304 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e27ae1a7-3374-4163-9406-030786d5d3eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:930e148c-b526-41f3-935b-3e4dab26f039 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9b261e2b-e13b-429d-8b3c-ac2c698c9630 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e27571a-a21e-4622-a2d6-f57c84f42e79 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a8a95b0-ff91-4517-8c77-77704fd70edb phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:769c3464-93a3-4d54-b60d-6f875eda81b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77f3a25e-9b59-4ae4-9302-580c91b418f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06fbf837-d08c-4dd0-9545-58fe8ca93d5e phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7301cc9-e6c8-4a22-a39c-e2460ed0cf29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fef9eb92-d656-4dd8-a959-08fb45976d29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:729a2e26-ec68-4cee-b822-6df191aa0bf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93be0d10-a245-41f9-b001-ef1e68535dda phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4475443-a66c-43f1-abf8-85f21c7761d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81548584-de7a-4186-833e-1fdb0bbe7e24 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a91ed8d-c428-4f9f-a11a-e6be7df88427 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3408346b-3b6a-4868-bb3c-46bc42b42c4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b5ae2f2-9bc5-4a8d-a4aa-01fa432dbdcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d80fead-bc9a-40a4-954f-f11c74965193 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6422f224-1431-4dbf-9954-3589e331d2d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee5e2ea1-ab37-4523-ba0d-6d485179ed52 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b2e479f-f7ad-4f8e-9f23-79cfc1866f08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0db6988-e8b6-494d-a3f7-5c616dd484fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:316f7b59-54cc-477a-82cb-d2090db72a7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9e4075a-ea0f-4c3c-b831-4acf7aa77a0a phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f0d3797-d114-40ff-8316-e568107038eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f9fb050-dd23-4a43-8a5c-bf118d9d3fe8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ce2ea3b-bb08-465f-9d56-d56d00b065c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d51fb2a6-9b38-4913-b173-f1e37dc56d27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ed658ca-ad79-4896-8581-eea64f31e196 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb02fe16-2ee0-4c8b-90a7-b92faa15ef06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61d3be1e-0b5f-46e0-b87c-6aa7f9c81d0a phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c400e93-fd5e-4b41-9ef1-3b028937c749 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e27ab83-831f-466d-9c7c-2e793f99f6ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d21a1fb-7807-4ed1-99a9-c1bfc2c60df7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b6d56d83-c290-472f-963e-59e877ef84b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2331259-c203-488f-87c5-87947f56b042 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9742e551-df4a-4656-a83d-27a5001f8577 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e7ed34f-296a-47f0-9e08-fbd830e169e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ace9736f-6585-4536-9f5a-9d5eacb0ca21 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cffd4b23-80f5-4133-b197-00c454551c48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c75699f4-9c38-4067-b4c1-fe864a51c227 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9e9d958-6aef-42cb-b31d-940b5f730343 phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c8136e38-8a66-4263-9ebf-cdee88e8570e phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cc397d5e-91e9-4011-abbb-1eadd74ca2ad phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:71e55b67-2ee2-4d74-9a42-bca05da518c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:06b09104-f30f-4ff4-9b22-7c52f58cf92f phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a104a009-24a4-45b6-9595-c718394d2e8d phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7dfab4d5-9899-40e1-9021-c4f8ca1ab00a phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8e288dae-e3e8-479e-b450-f21083ef386c phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:86647fd1-5bd1-45db-a3a1-6665334c6926 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:12c6e7a8-f39e-471e-9aaf-e87af2056c90 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c931841b-5413-4ad0-adef-6550a98850d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cb831270-1be6-4c9d-b6e4-f07f74c9af13 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:13711caa-fdc7-461c-a62d-4213670118bf phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7485fcf-3cf5-4468-a1a4-e9caf4622e3e phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d32b80f-f087-4c1c-89c4-72da7ce89799 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1010557-1539-4d01-af36-aed1a173bf97 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8555497d-d82c-441d-ac35-aadc8f5cbe60 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2433be7d-3668-4432-b70e-40b6aaccb0e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6484c71f-6910-4f4d-9396-8e8e9a3dc7c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49be26c2-8df1-4417-85ce-f68c9a9e4629 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fa73f9c-15b9-4668-8067-962ceaac5250 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8913208-d867-40e4-bf0c-5923ef58eec7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2bcb125b-1eda-4ef8-b274-812d61524c1f phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:034af56d-c324-471b-b649-dc41e9098446 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63e360ee-3177-4e2e-983d-8547c1e5b9ba phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c241fbd-353c-4e41-be89-ae149ae76df9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ed29d95-ea7f-4281-ad9a-f178707fc271 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c51ed48-de66-4bd1-9c48-4dfd2e456797 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8d47a55-2ff7-40a3-a32d-848d9665e316 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93c99dc1-da73-42dd-a07c-bc6cd3a2ca06 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8bae5857-916a-48df-ac00-e54d44508d3c phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4712c29-a700-4737-9c14-cff9a20dfe5f phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50b7fa11-7f41-4aae-8b02-5dddf28f1215 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d3b39f2-4e60-4969-8057-ebbf21e94dfd phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c597256-5d13-4ade-bf3d-5549d071621b phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47a99239-5d76-4a97-821e-af52de7aebfc phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a498048-e444-4202-8b20-1013a33ff7b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2bef24a2-ac41-4e19-a93e-7f2f021cf2eb phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad1b5d47-8997-4c83-a8ec-d18bb0172672 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39c67d89-db40-4bb5-a4ca-f363107d6791 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f57f5468-fab2-462e-b30e-352cd6240d67 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:542c259a-c887-4e65-89f2-106fcb306fbe phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c310774-b29d-4069-a427-123affdd0e55 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65249754-b385-4362-9f41-f4081f5e385b phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edad6382-734a-4aa8-9cc1-6662547e7917 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a0c79e90-ec6c-437e-a27c-67335c4dbc5f phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bb010bf-fc8b-401b-977c-a0ec45a64472 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a41422d7-f9bb-426b-a179-4d673e730992 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ebd99307-6d64-42c6-a2e5-eb58487a14df phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1551d30-ff78-4863-a90c-8986e118047e phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18bc7eb0-34c2-4cfc-a6bb-56e39973578a phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ba8b290-7217-41a8-b139-79837d17569e phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9db1a221-48f1-4a52-89d4-03627feb10f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f2daf72-a4a1-43e0-bb81-38afb1a5299d phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:29c36ed4-bd87-49ee-ae78-7c2f4568d85e phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8fa79137-4d20-459f-a57b-e61e0c67f4f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:25013b37-add8-4945-a3c0-416173cb9079 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b5c9d164-ce03-4632-813e-afeaa742a0f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dffdae8a-7f6b-467b-8a96-48be2c2dc181 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:22c8d1b3-bfc4-4869-adc3-2da406561fef phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:da9abd6b-53a1-4e71-aa07-96e79645d3a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f5bd0704-c193-40ba-b01d-ca276ad7d29b phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1e6c497e-1456-4154-850b-2a066f8bf0e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:51f69d64-fd7e-4078-b87c-765b9b9bac49 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:eada1111-c1d1-4b20-8a71-00f9ca63b9c4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c1dfb156-d5de-4524-8378-64e3f6199473 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29447213-8e70-4223-808a-e08ecdb9807a phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f09ecf48-4bff-49e7-a64c-ba15c6d8b5f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:264b38da-32c0-4c3d-b0de-1372e12c1b17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a400a01-73d4-4d59-917a-e29dc0adfde6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5611d06f-f43f-4d91-ada8-3b5c964cf28b phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9bfbf3ba-b7f1-48e6-9433-099f1a3da246 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93c91339-8f49-44fb-acb6-dcbb93a8fabf phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64b061cb-9e57-4580-a7aa-610b5fccb85b phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a871275-ee12-4f91-8ceb-2f6f74cd09ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7d99997-c7bf-4e44-8f40-ae45348031a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22933635-4756-4c6b-be95-2f214b067117 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1080f1bc-7f45-4584-b095-42d631d47c5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c243f289-6b99-4ef2-8f5e-fb7dd9149174 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cde38a1d-b99f-4b92-91f3-345f9ed3aa11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ac32b41-a7ad-49f9-9100-e592533063d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6dd845e4-e857-47c8-bba0-9135c4b870de phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70c40f55-a266-4e1c-9595-5589ae8c572c phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edac432c-a2e5-413c-b963-70ea3a212c0a phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb20a0fe-ebfa-463d-884e-eda9294f066d phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b1eea8d-3647-4aae-b8c1-b243d1a933c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd45a59e-5dd3-445c-98a3-81ae468b8bcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6faa0298-21cc-4637-8ba3-f6514af076c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2af37de-525d-44ff-9f93-755140d9e8f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91bdbb1c-cab4-4e58-ba5b-5186b982f63a phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a625ea5b-fbb7-4df4-82a3-05013a9563b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5ac2b29-7527-41bb-9b42-ca40184bcfb8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d401c5b-2fcf-4382-8afc-4f25ba83689f phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9aaa1ee3-56d6-416b-8db3-e0110922ca2c phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dca8fd78-93b3-4875-867d-43315bad19a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c9b066a-4d5a-419f-a3be-d445a5e93d54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f02bc65b-1098-4c2b-80ae-2282815c9c33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:86945bf0-ab50-4a12-8557-3862cc4efdfc phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d47b71c6-9bfa-4218-9d3c-3a68bf16d925 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43644f14-bcc4-4a89-9cff-1ba069848502 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8605d16b-917c-4a3d-bcf2-e4d28aa2feff phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5399021a-d271-4190-a409-eecc5729bf6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be88c9a0-7ad2-4791-bf36-89481522933f phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e51a230b-2ae0-4084-b826-ace24fb87cdc phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a4cd52a-7646-4ffe-9281-f30353887525 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44223270-e4fd-412b-9c5f-324da40e9165 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe724114-ee16-4294-bce1-3794246c2614 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60ef648d-113a-4211-8c95-923183f4445c phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db793f78-ba44-49e7-9dc2-138773e86780 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a5cc7d4-e871-44be-a0a3-510b5f5d4cb5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:30cafab1-cf2d-48f8-bb62-0a5603f6ffbb phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:1962ddac-2721-49ab-96f9-2f6d8adea382 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a6020d18-f8dd-4e63-b7cf-f83b799e0d2e phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c368799c-7d79-4556-8576-83960ec8ba70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ef7f0629-e458-4aea-9147-935ba443e22e phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:03947220-abbd-48f5-904f-c00017aa323e phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:73fcc825-535e-4147-a0b9-89b1ed2c1cb7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e002acaf-00ba-4b66-b2c4-88e2fe666b57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9ce0fa63-792d-4c54-9569-ff2f9bf6fef4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9000c101-e787-4166-b515-b852ef910de7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c68711e1-a2cb-4612-ba26-40a415cacc26 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f3f3edc-52d0-4f3b-af71-c63911adc353 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0abd30a2-2a53-4c79-9a39-ee717c291c93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8bc6285f-03a8-4a8f-b468-f072bfbcbd1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:770ec450-79e4-4cbf-9622-02513b238ace phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:00ac7b63-8f9a-4920-b00e-f13c3424d4db phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eaef8a32-d368-4e42-8275-790f8edce054 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46685a1a-c774-4b8f-9d64-c2a68487afe5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c385bc4d-1078-4df6-ac7a-2902e8da7cb6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61a8c9d0-4eba-4cd4-9678-a916fc9530d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c6a61b84-0c6a-4432-9934-f2aeca316545 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba3e7d82-0803-4d13-9c8d-68b1bfed20a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afb9ee5c-d99d-4f09-8485-ca298a455238 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70c2fe0c-9cca-4ab2-9b22-141cd905e73d phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e88097b-311f-4b08-a0a6-9ad57ddc2813 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5a441b3-9576-4360-a4b3-775f45450839 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6cb40622-a136-4295-b41a-5473ed3614ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:add3fa62-0946-47ac-95df-f5540b70df89 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fefa3c37-3921-4e33-9164-9d882969211d phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd82c869-3d16-4754-b0d3-625e4591f441 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ad54113-045c-4cf7-9016-6a96418ef03a phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b384326-287a-43b5-bdbb-2d48a39ad391 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6862f961-4fa6-45b2-bf1f-bd1c7eb995fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1077e6a4-c464-48e9-a968-7bbfceba9a5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:541c910a-dbbb-44dd-9a1c-8a8319a50fe3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1b7796e-11f3-45bf-b49e-85f624ec6fbe phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c83be4a7-e98f-4927-a675-e597aba4da23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60ca0faf-55ab-4b75-b707-0424b530947b phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:728b3bd8-5017-4117-b107-4697bb5ec4ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34aaed27-b110-4e9c-a36a-124b934cb059 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04173abb-7547-4ccf-9571-fa1baae90e82 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff0ea10b-7a44-4c94-97e2-49b9281f9db4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a4e9efd1-bae8-4715-8e53-ddef17fb191e phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae2ada42-c0d6-4a8b-84bb-1ff5fee8e147 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b93f4de2-a3de-47bc-b52e-bcc9d3937758 phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:900705f2-5baf-42e9-830a-8f3182a6279e phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2412f988-0df3-4e00-b035-20bf64202d44 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ab1721d3-82c0-4433-b462-1c17e3e501d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:87747044-4925-4204-8da2-aa83a625282f phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8e9738f0-fc71-426a-96c6-05e3d4532161 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f0528318-7661-4619-ac71-dfeeee42a4bf phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e917b67-a315-4e9f-87c3-bbcc72bc9b77 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ff0428c5-a26a-49cf-a983-3e5418a6808c phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:084a4f71-e2cb-4c5c-9964-0acb5383c1cb phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95f84259-5f1a-48f4-979d-2f03449bd867 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8790772-d737-4c39-bd84-eddfebd20f77 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13ac64de-e059-4110-9dd1-7070b7902931 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c27ee1e-f866-4bf8-b76e-85230e9310ca phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd0cca85-5251-4b6c-80ad-766cf30ce5a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5dcaaa7c-1418-458e-a511-6ed9622477c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d93e7ae-5d31-49fe-8f8f-b32f73c983a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ecb82a0-93a5-491e-bc2a-b8eeac6fbaf1 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a3ddefb-142b-46e6-a0e0-889bc6c84ec9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc423fb4-72d0-4bd8-ac65-10adb5d67694 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c22a262-2208-4fb3-8ea6-1670fde52c30 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afe70e21-2621-4f51-82a7-04983633ec66 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b398877-a78d-464e-a2e8-93a5cd6ab06f phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4aa3bcee-bebf-4ff9-bd70-9d1f8b19f39a phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f56cee7-6518-4bfa-bb7a-ff3e2456c714 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2969e42b-233d-426d-9d8d-b0b0d60b8366 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d459a895-bad5-4235-b2f5-c5a847acb473 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d57963da-41fd-48c8-9ce6-b564f1b63d91 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e9c930d-e227-4314-9a99-174ee8f101e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e3aa68b-a15b-48ad-a0ba-78b839cb5702 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ea8d0a2-2af1-478f-aee8-5a4795968ef2 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:292a7eaa-f7ca-46d8-8e3f-9364ab2885fd phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f21c756d-17dd-4c18-9ec1-fabcc9c85837 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39af8383-0bc8-48f7-9e12-a3540143a246 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e1e6557-27d8-47b3-ad8e-4b1134ade289 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d21f0e9e-71da-42aa-9523-c4b3496df6d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a11c58e-8d7f-4b8b-861e-ac563edb804a phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3644c9d-64aa-4902-a735-c3504b11f64d phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef71a5e1-c349-440a-92a3-d233eb5fabe4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27744e5e-dff9-44bf-98d7-78c637d523a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa00aba7-3b4e-42ca-b956-ec6c957ad103 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8beaf1f-d960-4db0-8601-afed8ab5db29 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:567aaa28-834b-44b2-a00d-cf1b201f8403 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cea96a88-0526-454b-9cac-c1cab64181d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec620d97-5bf8-4123-8885-a114197c68a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1591a1fe-1827-4004-bc27-d1509c22a29b phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:affc1820-0b9b-4f24-92ba-b002613fbbd8 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6fb5df18-45dd-4e89-95e8-f5e8faf30826 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31603ab0-6494-4487-b5fc-ee06bba20c3e phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:678eb0fc-3c2e-4de4-aa60-0640306668d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64c01327-15fc-433b-8713-098c1b772285 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efd31055-5eb2-40aa-b960-be595745c7a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8aadeaac-f2a5-424e-b3d4-18c24d9e2184 phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7f63453-cf0e-4abb-85ec-50519878db8f phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5234c665-47fe-4635-8eb8-95a5847de72b phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2b303acf-d159-4f3f-83d2-f9a09444a60c phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4dc81402-bc43-4101-a1ab-48204a78166f phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6c702185-2ba6-43b1-a372-8c463e6e44e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b4f5bdfb-6bab-47eb-a99c-a35972ad526b phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8cfccea7-48a0-4a8e-b102-8b3e4d74dcd8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8805da44-8429-4efa-95b3-24a509a48f71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6af58e3b-325b-4d1b-ab4f-5517bc376a08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e3c7d465-a509-4bef-ada2-c45c1229b706 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3b083a6f-fa01-474f-b367-a13649ac454c phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:68ece823-e7aa-43e1-bedd-e6a3ac5ee5dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:86216975-179a-4243-a612-4321fe09f58a phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:171b655b-1a3f-4d7c-ad05-011b80a6b8c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74eaed2f-baa9-43a1-9edb-1ecb459d1b75 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfb4a2c0-f031-40d7-a9ba-6119a4955a90 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d94fa05a-3e46-4c7f-b017-2e8cb8e6d527 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:017f41e2-5685-4cc1-8189-94eb4ba6aefe phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09e0b31c-244e-4abd-9ee1-86661897b1f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91f09da5-c0b8-4e60-9c19-a06008e689b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c615d505-d309-47b1-9090-99b37afe2157 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80562ed5-18eb-4b5d-a2c7-344b60b71720 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d277ee65-6387-414c-a9ed-8396e7434ce4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5b16457-1fe7-415b-a0d7-5fa765811bd6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64ac0d52-8d64-4ea3-bef8-e75419b2ea57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcfdc72b-e5ba-4f56-9ea5-16b9e43a29c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:771dcb9e-a201-4b47-ae14-01483e02a215 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdc489a0-2fb3-4743-a15b-24c855279f6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec0c6f76-f04c-4325-8d69-6b6d3b54ae2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e37cb5a7-2fbd-4cd2-8116-c3c37d242233 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d8c7533-f59f-4160-a5a4-fa37d5345439 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a17f32e-5a8e-453c-ba22-ad79d41f9b49 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8dce6738-9fe5-49a9-ad1f-9b1b8cc7733a phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6e9f3fc-3005-4410-859a-730cab1a2e1b phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e35f2ee-6a38-4356-8764-41b2ce0a2584 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b9164e7-b985-4969-b2b2-319ccf6729e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97baf93e-13bd-42a8-99d1-5738e729b7d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a9a7060-d22a-4385-958f-59fcb6c01e75 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c927d838-7b06-4d5c-94cd-cf4a54ea8aea phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43f6d38d-dd29-4e72-9477-006c0460d879 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd69209c-58cb-4514-a9fe-061ca0064539 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:404b0ee9-b890-4a90-935f-7b26a7d393dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c61afb3-4594-4724-9845-4d0ec4fdd335 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1d8b273-d6a6-4899-95bf-24d4da994988 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3faca845-820d-48e3-b126-e59d18999680 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7972af2-66fb-4ed0-8ab8-332916e7d27f phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d38c84e-1e41-44bb-b5c0-872f47b5a3c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43bdd801-4f1b-4691-bd7a-d0d8e1918aab phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ec0b8c7-d217-42f6-8b06-56fa95575e6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e4c950e-a858-4c1e-bdf5-17525d5a6c3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64cd424c-a703-42bc-b847-0cca840ceb67 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e5db9faa-ab75-4a22-a648-46c196f736c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:464214d1-3b52-481b-b8ab-504ce61f7e37 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:67527066-2706-45dd-9ad8-f8b318ea8696 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9c49ead3-fc65-4640-8639-aaf0b55e64e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f54075e2-a900-49fd-afed-3eccede8c77b phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8f6fb7a7-d79d-41d3-884f-823ff300f91f phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d48333e7-95de-4cdb-854e-0c3f20ce5c55 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b1e1bb75-721a-493b-8361-4f1895e0edf0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:22fbbb21-99b5-4749-adf2-508ae1820d09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ea4b79d4-66d4-492a-9126-2623b8214992 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8080b8a6-88aa-48e6-aebd-fbe3ed84f6ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a80c909c-d16b-48e4-a2bc-8e9e94c6f2af phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:11044cc2-38c0-49c1-810a-25d66bfc5035 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:465878b8-e9ac-4b5c-9d1f-b30a61806a3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9c26e27-0587-48f2-bff7-4c8d7630c513 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c7a269e-83eb-4995-8c65-f8b710813078 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33023a3d-f87b-4722-bc84-bf33b128c33d phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f240607-6167-4f43-b0d4-74d0b8d8e75a phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:894a86aa-e553-4d31-af4f-f78faf63a46c phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70fdc5da-5922-49bd-a47d-282f3a586c51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11b69bc7-ac15-4013-a9da-f58b025818a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c220880f-1ccc-4c10-a28d-8a8122bf1492 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47b9c965-0dcb-4300-9d8b-5c96c436b5c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b2131e6-1f0c-454c-829d-c80371c38682 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bb6c278-7a30-402a-9b2d-c6f3d3defec1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:129ec953-81ce-49c3-83f0-bc202e56fd04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af9b4b33-9f81-4330-8959-7560b9d8ba07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6514561d-23f3-4fd9-af1c-495680cba29e phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39cb804e-fa8a-4b20-867c-2f8b80b602b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de79cc9f-e15d-486b-9c84-07fb37809a53 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77951fcb-b749-42b3-ab09-2dabc70585ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb18f8e9-8e2a-45a3-922b-90ebd320b8ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c5441aa-9dcc-4de1-bca2-2231eb5777cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18565556-e4fc-47dd-9f25-28dac00e7c82 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11c232da-15c9-4b70-9bbc-7739f270b452 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c490ddc5-d03e-4447-9f17-7bf4c3813eb0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19cf6378-8913-44ab-a84c-ff1464b3afa8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78d22f1d-954f-42ab-822e-6f74a8f7ec56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a22f44c1-2c60-4ff0-858e-397cf78926de phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e57c95db-87b8-4545-a836-886118acce5c phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8acb54f-e50b-4e84-b32b-5c8031b17b8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9bdce40-55a0-4d1b-af04-6163c9fb61b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:905fda73-dc0f-4eab-b6a1-3ad88873bd6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1376f8ea-b94e-4157-ada1-50595e113d60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ac5749d-788f-4b18-8423-a07d9bcb76f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74853e6c-5c53-403b-9cc0-a8defb6374d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee5f962e-3100-4301-867e-b65605cbdb2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ebf1a17-65dc-4392-8287-16de50267ff1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d68c08ba-5727-431e-989f-dceeaad703f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92118ca3-98e7-44f6-8f5e-4890e3bbc039 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:febae6b4-aa16-4ea8-8558-9ce2afe23ba2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c5faf33-d87a-48b9-bae5-e6a39e18d79d phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e0ee64a3-133d-4067-96a2-27ce8b0325cb phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba7c5fa5-6914-4d56-8e1c-0014bd2c202f phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db593682-6d73-4efd-a138-531100c165eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:9686e3a3-331b-4440-b99a-1b575c2a74e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e91009d7-46be-42e2-af39-323416547812 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:49dc30d2-4302-44e9-9824-0ace4e35cd12 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:69036ce1-ffe3-4322-bee1-0e8b58feea10 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d85caad7-af84-4761-a00f-0e999a6c3e13 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8acb70ec-99e7-46d2-afdd-9e18fdc1ce4a phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cd55e9ef-b52b-4cb1-8164-2ecb51cae9a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c9898ac4-bba9-4c7e-b693-5940c4f02168 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:caf1f534-6e2c-49ab-bc11-65099c647f09 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e484b106-e9da-4807-9ce5-6eb3c9c449b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:43ae480e-746e-4385-9c5c-a4c169f215a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edf4acfb-ff88-4450-819d-c3bb7b940a08 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:949c89ef-c5e1-4ead-9970-26af7fbc02d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b5a5958-868e-411c-8569-c4ab72a9401b phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8449b781-202b-4774-8e87-622847044903 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dcf2cc64-f5bd-4931-8097-01dc631e3f39 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:634b1da9-84d1-4938-912a-ecfb6bc1b799 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc2ca4fc-46a2-427d-bf52-e928a8a6c4e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2768a8e9-c9fa-4456-9dac-e60f35c052ef phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d68bf647-6b93-4ccb-9e39-2a3c4337b75c phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a055f7f7-9181-48f2-aa4b-9acd0d575a59 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fbdbe75-99d3-4e7a-8397-0c63a47d5aa3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:291a9422-d03f-47a5-8a99-05341a9e171f phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08eb94a3-d1ff-4abf-a33e-61af1c54b9b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a049776-37e6-4652-8cc9-44faac1e49c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62eb5aad-293f-4956-8e41-d9b9d791fef6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c6342cd-ceb6-4bba-a17e-24f29a54a46c phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fde8703b-ef50-4c37-b87e-a35483792604 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0181d876-462e-4e8c-84da-254337dcbf06 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0279924c-d5bd-4ab0-b353-cf9d9446c6a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39b89b3f-bbea-45b7-8844-7db59be3098a phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8343bc8-7418-458b-a473-c36794efa195 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:851dd1c1-f373-4c83-847e-ea6cd02b4930 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a1aaa1b-4eb6-4f3a-b3f9-448ccb76f761 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db55a02a-271d-4f9e-993b-074858dc296c phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a49a5ee-1973-4f45-a123-aca10a61bb1d phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b1fafff-31a1-4cc8-b2b9-938b13f18959 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2e420f8-88b0-4ced-a740-d7cdf7d268d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a307bf4-0d0a-4424-9df7-519895aef591 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc6d8cf5-55f0-42c5-80ed-44b761d64d1b phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0483c9b0-bded-4cad-9a88-b62f1eef0693 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6706456-f1b3-4b9f-826c-65922af9c882 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c52d80df-579f-47f4-9309-f09135cc119c phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e54e0e12-9989-45f0-ab52-12c9efa476b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef291b9d-3251-441e-856c-a57a11f294eb phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1755abbf-5930-448a-b6a9-cc43064dfaaf phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0df3db1e-805d-4a5d-ab42-532e06c1748e phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a26d0f8-0967-452f-a054-f2a87450a3ce phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3040666-ba14-4652-b666-45a8c4a672f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9bf13282-aca5-49d1-95ed-41fada31e945 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75727f57-a63e-4889-9883-ac74f798f491 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f028fa35-9480-466b-b1e3-4375ab5dbcdb phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ef040fb-18fd-4c27-a173-4d279990f979 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da585de7-df9b-400f-af24-05f90627a56d phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f88faa9-a263-4518-8449-a025ef7f9bbf phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5d7ada51-be05-466c-9631-a56c6ef3a2a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:6aad5fe6-1e30-4d72-baa9-f37c933cc9fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4b5e9de0-559b-41d8-bfc5-bae69cecd725 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d17372bb-7694-4d81-86db-c353e068705f phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:146d3018-d2fe-4b1e-9bb4-393c0ca57f4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:73278d94-2354-452c-9e95-3ffb09d2eb38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:274ff7bd-3db2-4831-9600-c8d3383f0425 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:25b4d27d-b496-4814-8c07-eff1899c7210 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1251159e-2591-4de1-b724-51c4316a6cba phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:71b76a56-f2c1-4d04-a120-824a77177cce phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73367203-fdaa-44e8-956f-6ef68d1fa3a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1054bc3b-7723-491f-aff7-d5740f9b4bc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb387600-4779-4abe-9130-0803e2497b7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11d2127e-4254-44f3-aed9-57682a9fb70d phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:433c293a-e688-4b54-b7c6-067471c5c349 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a6ef706-2249-4315-8fff-849a74223cef phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1471c1b-8143-4801-9344-fe418599ba8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd406a31-9e35-4447-84ba-d90d24bfa17f phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b7981fc-cfdb-494c-b2b4-1345f52f9686 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02c3bbe8-c424-4eea-bb6e-eb05ee340d78 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:714ebb18-5e59-4b4f-b4b6-883f9fe93523 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ad1ca92-5af4-49f4-9e20-c177a8b1d960 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78900aa3-61e0-403a-a5e9-c2f7ae1c9d87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b167b975-cc59-47cf-bce6-a855508f3b1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:57631ecf-1c1c-41d7-a834-79020cd29abc phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b00fdafa-d7ff-4b28-81b8-1316fe9d8b52 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:717fdefa-c00b-4ab0-9acc-83024c2000d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef117ecb-3432-4696-92ce-06cf466a136a phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e0e99ed7-36a7-49a4-9bfc-c1ecebff831c phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78d3d25c-2229-46b0-8463-a20bf02e0045 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c4ebdce-f79c-439c-9440-d678329d23a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc52267c-c7fb-429f-97f9-680d5ce45858 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e75e2dc7-b6ac-45ea-880f-e6ab60e8b475 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b6fcd956-0246-400f-b81c-f664cf968c43 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fdef19c6-fedf-4cac-bb54-097f3b966ced phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:210d08e4-41ef-4bd0-bab9-200c1e85f9d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:1d0182b2-66dd-41a6-97e0-0617c9a17c47 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e30813c-73e5-40a8-8542-a2227e3d18e8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a55274be-35fb-4fb3-8471-9bdd4cf11819 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9f73f906-63a0-4a88-aa4a-88c81f503103 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8d28e0f4-a2ad-4a37-a70b-d8f48d73a33f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:35e6cf38-4d70-4e57-973f-ca0661349dc8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ea4a1f88-afce-48cc-a6a3-62546ccbb49c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e209e439-5892-4364-888e-9e5c5148a16e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:eb8471c8-9f4a-4b5c-b8b7-57fe2f87760b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3f10e61-84af-4bb8-ba77-0830c7667cb0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7debedbd-cfff-4a0e-a182-68ce8c88977a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ac00880-9a4f-45e8-bfeb-633487d449fe phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c9e765c-c06f-48ea-a04f-2f214c6ed255 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:702e9392-be53-41b0-bb12-9c7bc34d355a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:270e0163-1fdd-45c8-af45-712673548ca3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e64c9a6-1a34-4332-b9af-5503c101a7af phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2dc4f31-ea5a-47b2-a65c-7c2c05a88d84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96f29f7e-5a8a-4208-92a3-83870640c643 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6055372-67fd-46f2-9cdc-f72292168664 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:415c94d3-28de-47ff-86fe-f5359e0db68d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d443cf21-87e1-417b-bbde-fbaa5cc3bb67 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cf050ac-c33a-45f3-8e92-e2be27e18154 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3185a132-e9b0-4e39-b27c-83f753d5b478 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f33cd8aa-badb-43ef-9076-c170a35f1975 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:889ba83a-2f1b-485b-9bbd-0e2de66269db phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12d715e6-b2ef-4631-a03a-2b6fde5734a4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d585f6a9-f22d-4ee5-83f2-eba497b67cd3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d052c450-e4d5-4384-a056-6243f45a9193 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28bcf194-1a71-4ade-8efb-ec8d7510e180 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4af35dee-3dbe-4cbe-897a-c23cd52a2488 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f2be0fa-5c31-4fac-b2f7-c6e3bf2ae028 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fe59e81-a5b0-436c-a509-451d52d199ef phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59b9b596-44ae-4a80-b5aa-26fcabb92dcb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d59cfe1-77be-4de9-a71e-52ad261f2abe phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a77c1c81-6a40-4718-9583-3a3c9b98cff6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:475d10b5-b34e-44a2-adca-793207865f58 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:932eceb8-f218-4bc1-988f-0335ce19c7ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e30d7a3b-b9ff-4874-aaa8-bc46bb995a1c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3582aa8a-7f2d-4a69-85ee-0e96810be0fb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a334aa1c-2988-4213-8ea6-295a07407a4b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63084c22-b2c6-43e3-818d-3a75ae6860ea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a011a6a-07ee-4fc0-9d79-2ba31de3729e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90023bb0-50eb-491a-9313-aed1b9d5063e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d1a3d670-e9a1-40f5-a6a3-605a7c55201f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:436440e0-65f0-401d-9159-93545a138cb5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e0be13a4-e54c-4503-b551-6bd206cfee7e phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:89c496a6-acb0-407e-aa9a-4d3c400c6a83 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:61fcb55f-eb62-4811-a349-0650cc4184fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:75c48c08-2e73-4c61-9606-01e1ad35fb3e phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:96393d12-6201-4893-817b-49422855f36d phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5711cafc-cab5-4dc0-8501-e8f9d4208421 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a887e8f3-538d-4745-bbe6-a3311a74021c phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:96aaca88-9537-4187-96c2-a8b3846b4c2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c7fa0372-6437-4bbf-8ef0-354773e989fd phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e334f46c-9eda-46f1-bd81-765eafaac4aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d013badf-ecaf-49f1-a50b-894fe71bbf7d phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9f02474c-f27e-4bfa-bf7a-10b5c092e20e phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54beff39-9d91-4ea6-8e55-eaa5413f50aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cadcb3a-be5a-42c4-a653-bc03437684f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d3d6c65-3b1b-4be9-930e-99161dcef5d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e27c42d-45b6-42f3-a78f-2079e0b8a3fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:430d440d-f071-44d2-8d21-1880feb67157 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4586cd90-4531-4958-ac2a-e2ca8ab077fe phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe728e49-7096-410e-afc4-9cd3dad5e2f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d323f1dc-2a89-4a6c-9dce-a16edc611c1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d288ee0-a678-4d4f-838c-f5e116d916c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6fcf3123-ab26-4b1c-8ff7-49fdff1e9b49 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:412f9242-83be-4724-ada1-432dc5b9a7a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10eb4a65-caa9-437c-bbad-102c186b3170 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7db957dc-b8b6-4b98-aeb2-180370b6f315 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:266dad9d-122c-4277-b76d-32e6428dbb43 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98b41fe6-88d0-449a-8630-526c34428c54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9985ade7-741a-48b8-b616-2a7f2796c431 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:38558b0d-eb35-4e3a-972c-0c023f3c75e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2ab2b13-e80d-4dfd-9df2-ca104facade0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9122a1c0-a989-4413-9834-9c1c1e900c48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1edac589-ae55-4785-a358-90036c53022f phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e1efcd3-b3cc-468f-a7dc-d7e423897e2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb7479f5-bf40-4fef-9827-b1097da2c5b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca59cb7f-c3af-46f2-8f39-43a8ef500f3e phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73d087b3-07f6-4190-89b4-c9585a0e091a phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88703db4-be25-42f1-b870-1c4c778cf126 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3cdd3fdd-c12a-4d7d-9af1-f32165d64f9c phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:382e72f3-5529-494e-b864-fba521596c2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7590fb95-aa98-4c6e-ae4f-183a191c6fb9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66c176ed-0093-42a2-babb-5a2ed91f4cf7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffccbdb2-a782-40e1-be97-ee0b6f071f7d phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67fc903d-00c8-4281-bcdd-344a8c399b26 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9083c920-a28a-4fe1-bb00-f51255210c2c phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f1fcf0c-7b6f-4483-a04c-3459df7d1b6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3c900d1-c944-43ed-9445-84c66a6b17e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77420404-8750-4f83-9969-b78194ae7a3e phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8a86fc9-5315-4236-900e-277b49fcae2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36c40402-df49-4fb0-9d31-71b673d65012 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd8f6e57-c4dc-4093-ba32-f550c7a844cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be4cbb53-9bda-4834-b383-c0992a0d5e0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e51fcd4a-5463-4d6b-ba5b-2c0dff3ef541 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b4c79d4-d431-4b54-950e-d29eacb605d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:1ec1e9fb-6032-47c9-8ee2-91518c03ef76 phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:39277466-68fc-47d0-9a49-14a8faa33153 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5c82f3dd-e0da-46be-affa-c6fee0917611 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cf919df6-123a-4e00-ac7a-1b09929d6da7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9a0ad607-8c31-43c1-8275-c7fd7fc89c81 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:45e8a5e0-847e-49f4-8604-aa134d18bfa7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0dffceef-89da-45de-93b9-aeffe317a106 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e7caf79-8ecf-448f-8646-49b056c1fe61 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e466d71-f1d3-480a-8cba-f3408de87015 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bb32d30-ed2f-4ce8-bf6f-1612ebe5e527 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfa69364-3b23-4245-81c3-669bfd8c947b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b46647dd-ff5f-4eef-871e-60243d00ece0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5dd7de97-9b9a-4162-bbbd-aa9086fbeac1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93796284-4304-4213-a7da-6033b4df536b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f9f371e-aa74-4ab5-9fee-40e3a7d5432f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be456e6e-0eec-43e3-9fdb-b7af33aa2405 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:925468f5-1643-41c0-aca4-595c4b232fda phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c9be609-4c3b-4d95-b211-f9a2ffebb464 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed543b8c-c94e-44ba-823c-74d109cd23ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c7d6d14-af01-4dc4-8e0f-10c3268061d5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4e1b6b3-5d6b-494f-be60-60331b44dcf5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a0494aa-a429-46bb-93e3-7009c937bc9c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c05282f6-4ab1-460a-b603-6fa2af80001c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79652fee-f52e-4184-828f-ec779067381f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3ef30e2-55f6-4a44-8f92-6d01ffceb0ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66c03f91-ca10-4afb-9b5f-d007ee3401ae phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28778a45-a330-43ac-a895-8fe48e7997dd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efb68638-1121-4686-b4b4-547ac51857fa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8791aff8-6b05-4adc-aec6-9feb937274ca phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e83493a-5576-4166-a56b-e482cc93594f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c3ae504-73de-4379-b1b4-277901f687e1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c978a98e-fc87-4cab-a0fb-10b54e09a0e0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3077c6b-42bd-456f-bd1c-28b2ea730737 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44453ac5-866f-430d-9282-067609f92b27 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf3c7cb8-7449-44dc-8206-8c75311f2bd3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f6e3fc9-b812-4cac-b9e6-d093844afedd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02e8954e-0dd8-445b-8483-27ae951e7c15 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32dc7238-e8f9-4a14-9a0a-450f09a39d66 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:125fa45b-9a5b-42ed-900c-1aca78ab5a45 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08a196a7-8612-4c41-9eee-0515ea18bc70 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6d5791b-b780-4c5e-a733-7761913760ca phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:38d13f45-4d02-499f-8b0e-29085d47a6b2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff1a439c-e23a-44bc-8773-5e5a7f818763 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3bb921d-d748-47cd-8497-ed645b8aa48e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d35d6c9-4d7a-4ff1-9ff5-089ccc65d75a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1a2baa5-77ff-4138-9306-ae0acf259266 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:171132e6-0833-4c40-9d03-6353d5928877 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:57efdb92-a7c1-40f9-9c7d-74d5efb544d9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f44e64ae-e9ec-4aa4-a6cb-bb019a727cdb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:206ed1f9-fa5f-4e34-9f80-d08a437e66f4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4f6862f-0ee7-4517-ac16-c294101a22d8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28ac48c6-58d0-4ec1-964e-32f915110e23 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9654ddf-4a14-49bb-b3fd-efea47c392be phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:3617f5ca-9614-42aa-84c9-da21dfe66a01 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2d242b58-eec7-44c7-b8cf-bce302cd8a2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:07a85301-6f37-4299-9e81-725e2d9b1a5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4e9ed2f5-a51b-4d73-85fd-c003ee2b6a65 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f5432693-25c3-4656-813a-2a5ef82a5e42 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c648e1eb-80e9-4861-baa1-f47e8b1d0d3a phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d2d0119a-3183-414a-b39e-d2c25afffbfe phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7fd933be-8ba1-45ac-9085-fdea15a73444 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d01135a0-6017-4c13-a89c-ccc993081018 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dacde450-cf20-413f-a981-f2b5965f45f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3eb345b5-281b-4ff7-98ac-1e16854a4325 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7a7a1484-01b1-48aa-b099-cf81e8a3af5f phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e4f2d42-ef7d-4f7a-bbf9-15b510b85eaa phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04f1bf4a-d9d0-43a2-9470-b72e90762dcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b477da37-eca1-439b-90aa-6ac66770f624 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8af66ef0-7fb0-4540-b6c7-33900573ab33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2e20131-232f-4dab-94e5-80ba7eacb95f phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67dcd411-9aaf-43ab-8299-a9dceddf1917 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cab138f-f341-4f86-aee4-4dff0203586f phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30b8641c-08f8-4fab-81c2-102619611ee9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a4df9aa5-9787-4952-94d5-8e1ed9f58e87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2269590e-14e8-4d7f-93c8-298cbfe84b29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a78ad444-579d-4419-bfe4-3e3b332b2b3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24478314-ce8f-467f-b4b4-fe4b7ad12dd4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ab049a9-604e-4379-8352-54771b0844c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a2568a2-902f-403d-a1d1-42b5ff9f5e2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7592757-175b-4f0f-b16e-2424d70254e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72d69ae5-38ca-4a70-b903-8398a7573798 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63c93c29-8092-468b-b6a4-bf08fadc5c0a phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6735544f-0827-4bfe-b78e-ff961eca9226 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:329b01b7-23c4-4ef6-9472-4d775064465c phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21452470-b83f-4158-93dd-641f06499c45 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:122542c7-56e6-4c47-9906-ca50efb57cd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9cfda917-3583-4ef3-9739-f4e7a3c31d6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1acc8dc9-1732-4989-bf20-066ff48d7cdb phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:baa575e0-bafa-436e-8497-70bdc6f116c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f75ff5f-4e47-4d12-9d16-aee737f2acae phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68ffa971-609a-4c4c-a093-b0fb5cc74696 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:744841f7-c5a3-4993-9efd-403db2623c35 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6caacebb-810d-47e9-87a5-3e3ebb5fd96a phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40526028-d17e-444b-9324-a5bea4040c5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99a29447-008a-46ac-af25-eaaaf592374f phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf779c59-2308-4cc6-b0e4-6b8499b6a52d phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e4f9cfe-6d77-4d18-b5b6-7bae60014acb phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c13a7ef2-c213-4c8a-95af-d7ca6614871c phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e4bf54f-194a-42b9-b8f6-4ea44946d606 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d397746e-d5d2-420f-8c46-7b8139ea08a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b830212f-4837-4e6f-a236-ff476f7b3a52 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1113c1c5-5243-48c1-92e5-e3ee5b33c814 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10fbaeca-4ae0-4c6e-a98e-b73466b7d9df phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77873390-4188-4feb-b955-30f59466995b phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49014690-c27d-422a-9ac5-b09da4983cd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75c36b9c-2d00-446d-b570-c72d9297a2df phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9a716fc-86c7-4933-ba31-e5cee66c96df phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74eae3fb-b1f6-4565-b1b1-2e439ab3c00a phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7ff003e5-0ba6-4ce8-95f6-af997ef107ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b4ad3c14-0555-442a-8d48-17562a9181ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2563a439-1bde-425a-8193-f3f4367b1eeb phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0fceaf86-d988-4ffc-8adc-0ba920f39206 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:19f41fa2-beb2-4dbd-b05b-3bb5e5ae7fc9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ee863fc5-4dfb-4463-9c5e-284fafdf7cdd phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d8af4e09-852d-4006-92ef-cadfb15464d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e742e835-8879-4c34-b145-c05f464215f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0d12d2fd-47f5-45d0-bb0c-41210a175e8d phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fba028e8-127a-4d27-8731-56a6336014cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:335505ae-6e5a-45a7-9e53-beb40cd99231 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d1bdf5eb-ec89-41e4-8eb5-ee0570115452 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:716e8bdb-7463-4e48-924d-60dd9cae650d phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e617cf80-cb0a-4498-bd75-9785035b60ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c9acce6-f027-4669-94b7-470d4f09c5ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4fba50ee-9100-410a-a1a3-623e5784033d phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:122c6aff-c981-4d2f-a529-4ca28783a80a phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce55f12c-7bd2-4cd0-828b-1c3a373e0d07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4460202-6286-4011-a9b8-41afe6c16303 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7883c840-cfdc-46ae-b31c-6898c8a56790 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63bb2e0a-647c-4bfe-bd6b-a55ce32c929f phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49c86485-beb5-4ec8-95da-643ca95eecfc phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e4039b6-9a86-4c33-8732-0b734c57523d phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc0274e3-8e62-405f-b299-ece8c4ff30c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17bf4cb5-5224-45d8-a31c-2cd79c8d6749 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4603bca8-d9af-472a-9a7f-87df019315fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8c80f58-352f-40af-a916-bb1480a26b16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb0c6ed8-dab6-4e35-9fa2-aa9448d84fa1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2fb91be4-fa51-446a-85e5-3716ad9ae39c phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f74cb74f-a3cc-4074-bd64-a2b3619d3e60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc6c2322-054d-4b7d-b5ba-a01b1cf671f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd3456b4-0f70-400e-aba5-8ffe110b00f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:188c5a97-001f-4393-bde2-74fba8453242 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39906af6-373d-4529-848b-6f263e62be72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13ceb5f6-2300-4fca-b196-5428798cdf54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f45ef0d1-60d4-49df-87db-c76c426c436f phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68b41e6a-7c17-462b-b904-d257d8d6c3ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:847e4b56-299e-46bd-916d-28aa1fa39e97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d482651-e0c4-4f58-8cb4-2bcb60ff13be phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7337f7e7-8cc6-456d-8313-8191fe1b4958 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d789c81-fa7e-454f-8986-1567a5aa5e48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a587ea09-ced0-4c35-8c2c-54cdf36e9d63 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:070897cc-c9fb-4c91-8045-3d71c4b2a81d phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1aaf821f-affb-47eb-b29e-f08dc5a3df80 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69f1c2b2-61e6-4b01-b158-61a829f76f48 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b07fc75-1fc1-4149-a11f-490946493438 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:608bebca-73c9-44e8-95e4-f52ae3f7e93e phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12fd5bce-fb54-4acf-9e5c-e792c0df0ecb phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fbe6c47f-6ce2-437f-aefe-c930779ac5a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a64f728d-2f0b-4a4b-ae72-abaa9cc5f349 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5d2adcb-8652-481d-8220-087d25f144c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:790821f4-ef8c-4ec4-b515-f646e4eb6150 phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c475eb73-cf23-4170-a6cb-8fcf39e8c20e phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b26ab2bd-d4c4-48a3-ad50-54f44fa9d2f5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3eedd392-1fe6-4fe5-b576-5b87f69aa592 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:81cf37fb-b1c2-4078-8ea7-e066df2b01a0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2be5b7c6-b21c-44cf-be0d-ff4d27284750 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ad8e5aa5-61fd-4ed9-9f19-23ff2a1e9304 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:992670dd-5c93-4ce5-8ea5-831d745eff1e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:479cef4c-e132-4852-9a8b-22ce3c3d3afc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a685881-7381-4c59-a8a9-81d11636ce33 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7dd62132-e324-4e2b-9e94-feaab0d6a18c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d3db46b-4203-4fb9-84ba-ca5a00f9555c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c7bd2d7-4edc-4ac3-8e37-d6c036f1cf43 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5dc49866-aba6-4b42-9faf-6bb147e0b186 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c02fda5-479f-4ab9-8bdf-84d9ceaefb7b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:597ea91e-72c3-4285-9186-5c17d7fc14d5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ff5d7a1-51e6-490b-bbe8-bf595b927bc0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:251ede90-fa02-4b5a-96c4-0d5ef2a41a81 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d24e84ce-e5ff-419c-a2e2-54b1b36558c9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:384aae63-b571-44bb-8a03-299892ff7254 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:00be3045-4cd5-4093-8733-7f933109d1df phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad4c0512-9251-409c-a201-aa2b176692e0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fad55ec6-052d-40d9-a1ac-e7352e2bac54 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b70e85a-0dab-4e8b-be3e-2b751694f2b8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92c1c889-b840-491a-8840-19a2020bdaad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:222d5d74-5eb4-487f-9f17-d8e6742043c1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7220464c-6757-4900-b70e-21d5dacdaaa4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3d4c4f8-b4b3-409b-aa66-5410245b0397 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae4c5ec9-3302-4728-9f71-f0e4cf23ecba phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0bdce5f-704d-4b12-89b6-348576630aa4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85e092fd-17a5-4d25-aa6c-9bc65b71158e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd3ab1e0-9823-4afd-bfd1-602ea6efb044 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca850e22-ccff-464d-9572-6d13ee44a820 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df366329-45e7-43a6-81eb-63e2f85398e6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f316ee0-3902-4702-937c-c9e415117305 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9a84952-d19f-4b13-9f3d-f01b873e90bf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb2faa2c-db35-44bd-8d2f-9128ec419816 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf20d6b4-37b9-43a9-b6a5-749fc8e58f31 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f8f03bf-baca-4df9-9b45-b0f9898c229f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52d2b912-7bd8-4467-a3df-5970eb74307d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edec7d27-8a70-4481-a4dc-0fc5ad743fdb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8853a6f-37e6-40c3-bf68-edf916205abb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf88af80-613e-4d15-9dc5-af427bd68d3a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6d150e9-b35c-479e-a0d5-91a1d4b2e295 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:808b7f88-20fa-44b3-bbd4-9471535ffacc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a342e560-56e6-4c07-8aba-754783fd9332 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8259fde-56b5-4f64-865f-79a848433b12 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e1ee57c6-ccfc-4d9d-87cd-70a025a12ac2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f9d8e174-9dc8-4f1b-895e-cf232784065a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29f1e473-a537-4541-94d4-4806b12b9cd4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffc37eaf-0860-408a-a393-b1e642f03ff0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f00ed2b-fdbd-4986-9d94-ad830d7091d2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4635b61f-57d1-414c-901d-bc5cba84bf31 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c4d2d08-0f3b-429b-b416-1f08c57a61c1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6cfe80c0-043b-4991-9278-7e9dc906c6d5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df5ab581-d393-49c5-8d1a-0c9ebb97648b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:dee13cf0-1657-4573-9d1a-7de5dd98926e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f69c18ee-745e-415e-a11b-2a02122c9675 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:109028d8-9fa6-4a96-8581-5c6087c4a081 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:94278b6c-aff0-4338-bd7d-8334550979b6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:550e0cef-e857-49d5-89cb-4201ade5c770 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:466517db-84fc-4f3f-b35e-6a6d3b037492 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8cb3864b-e0de-4d60-84e6-1e227a484b59 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ba6a19f-8586-48c6-a238-2822ccc13735 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62f82ecb-e161-4c27-8915-a3ec7275f11a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5557570-65b4-478c-a131-0cd9d0fa78aa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa9399d7-868c-4bfc-b9a2-b8bcd6ae3593 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2253945b-0754-471a-929a-f69dfbc062db phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:138df28b-9cad-446d-81dd-6dd465553530 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2b0c9a8-c20a-4463-af18-4fd2867b249b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cb0830b-1ef2-4afb-804f-d750fe399f48 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f924e2a-36a3-4d40-a335-d7eb15718a22 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7093d44-ef66-47eb-9efb-5f1dfbcf1eea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cea561f-8ac6-47fb-ac24-852ac383fe3a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:330bb311-e489-453d-93e3-7df720139a5b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:320991e7-78ba-4287-aa66-e1446349e702 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18962165-7646-4972-8946-69793a26fb3c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e00be736-9344-4fa5-b811-6af17d5732b1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9fe57b1-2355-4a3a-9390-24b2d701571e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d46d2ee3-9bee-467c-9286-fbe3e27e2289 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b7466c4-019d-4638-b528-a2c117610aca phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93300bfb-63ef-4499-b1d8-76dbfdfbc1bc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:686465a5-a340-49db-a18e-93b293ad55a9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20d633c8-c7ed-495e-b467-6e87e9a2d16c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a664f19a-a306-4a52-9fe4-eb84a48a4258 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc87f2d0-af63-4db0-a6f5-7c453a13e25c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80dffb9c-1bcf-439e-8534-bceebd0e405c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad0c6a01-49ed-4576-9229-c2eaf6159cb3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc4c9374-30da-4d17-87db-922205f095ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:591cd1e8-d31b-4a3f-8a21-05acb9bc2b97 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69181fa9-82fb-4528-8306-382fca834a9e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62c7204d-7db4-46df-967d-05e250820a09 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f80cbe6c-6b04-4137-94ee-c02c33d333bc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:962629f5-8269-49fc-8a0f-159cc1de9572 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e7fc53f-96d1-4228-9dba-33350c79b9c2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c6215fe-a294-42f6-9f49-934854e62815 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:603215a8-8cd3-4a83-ac93-7f953a17d61d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:135332c3-2558-41e6-972a-4526ceab4fa7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af8833d2-ad28-4956-aead-9ea96bf0f65e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abe9ba3e-28cb-40c4-adac-669b0ea17ab0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98faef82-1132-4797-b83a-39c46ded2fdb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7480f86a-7917-4533-a3f2-e8c1e9267e07 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c39b238-fabf-454f-a0e5-64aa99ad6c6e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:001120d6-1057-4a83-a77d-220ac874cd98 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76e26465-83be-4800-9719-a3dfbce2a5dd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3da3873e-0748-42c5-8285-4517d723e860 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c5f6976-a0ed-4758-b1d0-b45778f435d2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e44dbb45-8528-426d-9611-5a94479cff26 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8f51936e-bfeb-4c36-836b-1a69fc78a57c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:05eac311-9a9e-4952-aa33-cfde0500ff59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:074543d2-3974-4bf6-8719-9e0e3a6c1610 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:250405ee-0668-4028-a618-56c2d63f40c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7acda59e-f5b0-45db-bc97-0f91adbe711b phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:254ca1d2-f659-46ad-81f5-ff17c3cdbfe8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:85fb5d4d-dd11-480e-ae46-00daba10684b phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:358f7664-00df-4f09-b2cb-63afcd203d88 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b6c7121b-8e29-40a6-abd4-b5833343d5c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a02dd42b-3ade-44ee-b933-9a63524eb2c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3b21ec75-c556-4349-a2f3-58c48b8c0b4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:338c57e3-bda9-4330-ab69-cca1ea629cf8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e3996516-e0e7-4368-a039-f7a4ea0c060b phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2fad479f-38b2-4fc4-917b-c2cbf5738f42 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bf18b277-7ac5-4392-88c4-30e7242e59e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1e034886-7d1f-443b-9892-4dda3b3aaecd phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2a0a76cd-02b3-4fd7-b785-d659d22d86c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:179c3d04-87ee-4025-a039-d4196be95e23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3d618a84-16af-4984-8731-3f4b8b3c1417 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c8610bd-8e16-4425-ae35-8d82379b1994 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff8206dc-a54d-4dd3-914f-f2e08b06ff59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e846568c-958e-46b9-ac8c-55affc809606 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6725d675-39b3-45d2-b58f-2e167006f3b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:382beed4-7f02-4c30-ab9e-ea1b2975aaf3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f690fb8-f89f-442c-87f5-eb903a93924f phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d74ed67a-3712-44bf-8425-735444953680 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4218ef2-e77c-47e1-9912-86c3443612aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96864e2a-7c6f-4855-851e-b593ddec910d phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6fe7e7e1-674a-49ef-85f2-8efde84adae8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1c28218-de68-4402-9c67-3c539f4e08ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e67f737-3e9b-483f-83e4-f8ea26487006 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7476dbd7-1d04-4e28-8223-2fdbcaf3df5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98c4893d-cde5-4e69-b297-56a217563b36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9bd3d89-7b52-46d1-8970-17820f870a6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8de407e-d083-49cc-af4c-5e91e23a29d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02061c56-d104-4af0-b175-0c9835010eeb phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29f42944-4791-4f3a-9c5c-dab2a37d3927 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f41a02c-152c-4cb4-8d5f-820ae4da55eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c822f1e-f562-4240-9458-5099e3e03ce9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40680bc9-0126-4175-b9e4-6ad0a3b45a7e phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a951fb0-5a61-42b2-8526-9296bde7842b phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:239bc3d6-a04e-43de-aed6-a089e212562b phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a730962a-0e7f-42eb-80cb-6fa73ca8cc63 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e541fb7-2332-4900-bb15-991531972013 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c666bc3b-fe2c-4633-b3e0-305e665fecbb phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f615d746-818d-4520-9bd9-a49f0bfdd537 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d4bf7c3-6c76-4e60-bfd5-e6e63ac46f2d phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca52ac21-745c-4677-ab01-18cdec0a1138 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1cf81c8-66bd-45c4-937c-9208fe911427 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb748739-4781-496d-b0f0-30003e7b6254 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efbbc613-0f8b-4a7c-bd3f-d47b3b550eac phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59b26dba-ea3c-420f-aa1a-bd873c35f1ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61408879-d54e-4824-a519-bef5828f92d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8dc80389-c6c9-422d-8310-6038de326332 phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cb473213-5aaa-4a11-8fba-33078c330334 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d61beaf6-a986-4307-8869-cf2988771a87 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d98880f9-306d-4982-aff6-4b27feafcd28 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:75d2f899-b6bb-4398-8b7b-ba4f48d0fa35 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0177ce5f-d5f8-493e-8c54-6802220f0a6c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1c2b0ae3-442d-4399-80a7-1b7de86d251e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:845c1ea9-03c0-416e-aa95-67ee60c3432b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:13b10c72-38a0-482f-993f-c91627d40b6a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ef756fb5-663a-4e01-9256-7524a5fecd5e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c75122c4-d025-4c3c-8ce2-ac378b7a111d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1caf0c68-1ed2-49e6-aa11-17826dcc4c86 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0990eb19-242f-4669-af29-6cee8cea47e9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ad6c868-6aff-432f-80b8-7ed2a8f1f343 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80681871-445d-4b62-873e-e729c56ea18b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e69adf4-1381-4eb0-9bc8-8a817caf6649 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8566747c-65ac-4252-84ed-d5b078b9c1be phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05dab2e4-759b-4e7f-bbf4-4f578d4db8fa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95cbdb79-2b7c-4647-8720-a5175e81f327 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01720bcd-4f37-44fa-a7d0-da40c8e8663e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11e957fc-2470-4b9c-ae8c-0d955febf9bb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1a62a63-d140-4327-a474-af2f16cc8bb2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ccf4fe63-75c6-419f-bb96-daa881e998d4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:daf42151-c7b4-41dc-a80f-f2a8ba99dd4e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f750f2f-67a6-43e7-a934-e107c0b134ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9328607c-c03c-4b6a-b8f3-df153a0340e2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45a47bce-c186-4409-9644-463dbb2e7a67 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c99b75b3-aec7-4c7c-a206-3798152774e1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06f8f3a9-74f1-4156-a5cb-449caa80988f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05b9eb14-9190-44df-8fb9-736a3c42e9a3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bffebf08-3adf-4906-bc4a-cb7a63c2b85d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb3a09f6-8a1d-422e-a933-804c4c57eb6a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84c3d14f-ed54-4549-aa9f-85e24e6f98b5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5d7f6db-8d98-4b84-93c1-855fdf484c33 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8fed6085-d214-42c5-9015-626527dfc6d1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8d7e625-608d-4a77-8d72-48663d365357 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39a9d9b9-5e7c-4896-a209-e339cfd66ea8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a149679-8527-4dfb-b98c-79309906bc38 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:51e74334-32c2-4722-981c-a9e629f8cec9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:231a417d-48cc-420c-9867-ee32306c7130 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:07b29d02-3fe4-494a-98ad-839ed511213f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ceeede95-0c7c-4fa4-bccd-b605fb33930d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d101e5ac-8e5d-44aa-a2db-d4f8c92dc832 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a34fb79a-728b-4ff1-b8c5-27659259a6c6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e71dfe7f-9ba3-4525-8205-2f9f84a47bf4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6523c036-e8e5-4beb-ad4e-02ab3aa3b7bf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d5bcc7f-ae33-4340-b9b3-d98eb8c13a1e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f73c346-ba24-4900-a2fe-e725d7dca9dc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53b233cd-1e31-4e6a-b9a8-0fabc13bf279 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e0222a5-9094-434c-8802-efb335da97ee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1af8047-1ddc-4768-a733-8073493003e3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:87f923e4-73a8-4f10-856e-75c40789a623 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cdcf3998-7dfe-40ac-a949-7cb81cde6fb5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:de243f3f-2f5c-4316-9803-eca2b1a39a5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:af50c0ad-3fe8-4083-898b-1b7b5df492c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:075715e9-0547-4a9d-9fc6-eab76cc33679 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b49fe92d-a92b-4805-b0f6-67d8ac802e96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9cf1754d-5cd2-414b-a787-92d242c69cac phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2c3fe5b2-c028-4a9b-b49b-2d54937cba73 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:64b7f8bf-1889-4371-8b43-8d0d3255e025 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0dd2a123-7e41-4e74-9ba6-872e6b9441d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a53f4878-4181-4966-8a5a-a78d6706fe26 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c135802-e345-4e2a-802a-63c0999ee572 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2362cdbb-f45f-4b4a-bd82-d7630009d6dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a2647c9-cefb-463c-9043-bbf7a0cee4fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba769de6-a536-42b3-9f53-e91c67bd35c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5804f322-8a8d-4c55-9c72-909fd799de84 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2189479a-71d4-48e0-81c3-aaacbcb225a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f8ce56f-a6a2-446b-9d61-31f405d2cf47 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a82be66-9e92-46b0-a79a-a6cedf5f7d36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:987a98ea-e264-4791-b517-37fc80b95d1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5432ad9c-b25d-4122-b9fb-95e66d63b14a phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59b59f13-0421-43a7-b8dc-e6eaddeb5843 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be3712e2-c912-4f10-9713-e71575c66dae phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2cdcfab-f74c-4224-a327-bb814ad9251a phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a2a84ac-306c-47f1-9850-c629cd2eda08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b18e28af-5184-4dbc-99b0-282b06f0cb02 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b925dfa-2357-491d-8317-d5bb7e71e240 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4644f1d1-fba6-45e7-83e5-dd399453f1d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd0e5a3d-6708-4fbc-9f94-5cdaa6d768ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:37aaf5d8-8f02-40b7-8795-0c387cd2b904 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27b61b59-66aa-40f2-b6e7-7df8851a5490 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a7faeac-8d1a-49e2-9ba5-57e0fbe05020 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71c5b774-e8b3-405a-8eb3-bdb4b19605b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af163b72-dbc8-4b19-80c0-d2ee7eadb476 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd44e028-631c-4d8b-b771-21ff29820a4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21837fe2-5006-496d-9d13-9b6730434dba phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2676b37f-a53c-43dd-a15f-0b37fcdb973f phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f90763df-3042-4d15-b5ea-4e78900d9d61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c8a2491-47da-4cbe-bc26-9de87c01c0c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67c774b0-e0f8-4199-ac23-2dbb36367068 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c567a762-d217-490d-933b-258173802be2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74f03e3e-399f-436e-a2ef-75e937bee51d phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfd0489b-25c0-4269-aca7-e8517c0fd177 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8309fc8-8a66-405e-8a53-61573214c47a phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3aebbeb0-2aec-416c-aed2-cb79e4951a96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04e27b01-9cd3-4028-9635-8c1404b8aa13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c8edf86-b2c5-4fe2-ab0e-39103f5b9406 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:335643e0-78df-4240-b77e-0ea68234f184 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45f507e7-69ff-493d-903b-237f2cbc547d phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:dea658a3-1090-4df1-ad77-0f7c68303585 phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e317c9d0-bc05-428d-968a-c36b6be0205a phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:612dc19c-f9b5-4164-90d8-7ca812ffac60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:aef74d6b-d93c-48b1-b070-8bdad5803382 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cbd752ea-629a-4dda-a6c7-5e30e3404d67 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:33d0276e-0928-436f-bd4e-6376fcb98324 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:eb70a5e9-2dec-4132-b712-468643c834ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d5c1ba67-5fd2-40ec-a16f-5d4377aac671 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60b60e52-930f-49c4-aa40-a96af0b2d16d phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5c2b42d2-fee1-45aa-8930-136c57cb6333 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:52f8ce32-a14f-4797-b05d-2fb268f1c388 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2a838d1c-35ae-42cc-a122-a8504de0380a phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0ff11f30-38aa-41a7-a315-71e6d72af2f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0d28293e-529b-4230-bf1b-0de53710e8ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e543f3be-c2ba-4207-bf8f-f6ee9c674b7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f156eb9e-4aa7-4b92-8a29-fb97fd06e0eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40f3fb8e-82d5-44af-bedc-340fe5617a7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c791cedf-2225-4162-9a3d-7abfaa2cb5ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3fa27da9-4428-4b02-8d52-bcc5705cec3b phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf79edf4-7350-4a64-b733-85d3497f9034 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee81a05e-1073-43ec-875e-9347f2a34901 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04392f0b-244c-4343-85af-4658d88b7b4f phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ada2b866-1121-4142-b73d-617674fc4b60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aeca7689-78a9-4a43-89b3-d12bb9a5ace6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e9c4ea5-e29c-4419-8ffb-a17c91d3a410 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:46d4bf5b-d5da-491c-8733-64f1116cc577 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd20f7ec-cb19-4f20-a468-bdf635b06b50 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5d224ae-2b9c-4042-bdab-460e70d7c997 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33899a5f-60f9-47aa-b848-671256eb8abb phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec707e4d-f05c-49b0-baa1-ba6bd634b08a phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c1f2d1d-f1cd-4d87-9709-85cff7f6fe7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d4a5e60-7d17-47ef-8f15-514e2a25ea01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:437b84da-abc3-4b08-9dbe-2b554c7886b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08990813-3159-42d5-ba14-c9f326ce34ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d23b7301-bcc5-46e3-ac8b-e2ff0cf98e04 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fee78dc7-fe88-403a-ae77-6d80d297234c phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a657872-972f-43ee-b19f-30954344cf5d phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d614d960-c6df-47f8-86ef-14cfa4e87b5a phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:732205fd-3902-47e7-a7ab-1de5d70dac7e phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06c51334-6afc-4c5b-bd6b-224322ba41c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a585128-0fb6-458e-9ddb-eb92b86458f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4caf8ffd-313b-4fc9-9491-c7b9830f5412 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d242707a-aa67-4392-8228-bbdf920964c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:af2c0a34-3964-454b-a160-35089efddbf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17c62ac9-86e5-4300-8d3f-08b366e13c2c phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de770178-3c05-4969-b093-6383fee7ac84 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9372609b-392a-44c3-a181-9bc7dcaabb70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:078c6119-bdb5-4531-8db3-db53ab78a3ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33d209a0-7d6a-4415-b74d-e8bebe295034 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5fbd06d-e735-44d3-a4e9-249c3f759eaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:44878240-e0a6-461f-aa98-11c4d153f1f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ed257e4c-57b2-4a0f-b18b-858e6cc2f05d phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:410849af-43c6-42dd-8ca0-7689842b6179 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f914b90f-1dc5-4fa2-9b5b-a5b63e6d95fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a8fc729a-f1bf-4e2f-9bd8-d1ce88bce7b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6bc4866e-6c05-4a50-a461-5b81a59447a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2e18c467-9b30-4bd1-a4ee-eb2b6be44403 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cd71fd0f-3c45-4628-8b57-b7002ed29db2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:612c3532-9d01-4026-ab33-0adf3c22b24d phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97696b48-d234-447d-affc-f9befd38f1c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d4d1c2f-148f-40c9-a03f-e3abc5984b64 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8facffd7-7077-47ee-8f33-54ed01aba8fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35686c30-8aed-4931-bd33-da50c1d29163 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e3d01b84-601a-4a1a-9cc7-ef915e74ebd3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a633306a-6c83-441b-918e-655ecbb81335 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6365e595-10b4-4fea-a83e-c5a6a6effdaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1778e49-f98b-4e6c-bfc3-a179a09a05fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d3262e5-f022-4adf-b76b-383ba0ed9e58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a01bb8d-c992-44c0-956d-b6ec2b1e67f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0924aec1-94be-4b97-8a5c-c650c931f011 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bed7d196-ee13-44d3-bb52-e72a5bba1758 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a7511f8e-b52a-40d4-bbb2-61529ecefceb phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f3ad487-4a0f-4507-beb4-2b7b97190826 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b0246ac6-af4c-40be-9d9b-5c48f3a32fd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8fa45cce-3c4e-43cd-b54e-f355db89244e phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10b9e88e-2b76-4369-b56e-d69c406ed32f phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfca9c44-26b5-4b70-882e-c41a072c1843 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c6404d5b-0c6b-46c2-a2ca-1ada6790c556 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39af9a94-2047-48dd-a8a2-b81a442b968e phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f4153f9-8241-4cf5-a4db-d6ba943454f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a09bf33d-c6be-4b90-99a0-54ca3ef0402f phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5aa7192a-4bbb-4cc1-8576-f0f2d6529539 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad89734c-aa4f-4d2f-800a-ca395e0fdef6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef893b5d-8228-4e8a-b0e7-d17c9e90aa9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a78fe7b5-1347-4cee-a831-f6268dadfb8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f05983e-14c8-4a76-94ab-0682328ef514 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a13dc10-5234-47e3-a11e-e33ce787dd57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:acb0103d-86b5-487e-94be-b93b9ddfdf60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2b9550d-7fbb-426b-94f5-e5937255baac phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d225e493-bd8f-4085-b9fe-286745fb1d2d phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05b9f9a7-1dc1-43d1-8188-015f6b3171d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:718275c1-3e79-4f50-90b3-50c66cc991c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74c80b01-0757-4fd2-b9ab-969d2229e558 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3fbc5492-34ef-4943-9c50-0e21711ea4db phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d69cbbc-d281-4f8a-bffc-571ba5b4f828 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f2c02a38-52c5-436a-bea5-1d41babb00f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2476b713-a5a1-44eb-8afd-05d8668d7a50 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:484b710a-b0d9-4275-94db-1720ecfb62c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb7156da-18b3-488a-a67b-71ffcff8859d phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6692801f-b975-4c16-acf4-c977fad608e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:965cd45e-8fd7-42ad-9aea-8586986c4308 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:838e2767-309f-47b2-a58c-edcf7bc33f8c phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06790c1d-161c-466c-b7fd-8c6fb0eb2be1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47084327-f93d-44e3-9a8d-b5dfd510e53f phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ad8a15ac-e46c-4cb2-9379-df3fdb473b40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4b54bd1f-d56a-4116-a0e6-b46b8f7d475b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7a50b3b-2824-43af-afeb-11dbf9aecf17 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df96a3e9-5e4d-47f5-a402-0aac44a6e901 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:89095b50-48b3-4bea-b33a-7b9bccfb695f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab0224c5-1764-4c94-917e-d0b86f3917c3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a26c6d6b-ab2d-4602-b6fa-5668bd745791 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2a9ba40-94d3-421c-a6e2-00c56db4f257 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a84ad4b6-37aa-4919-b953-2f8184403fe3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6784a979-8bd9-4d2c-bf0f-ddef7950225f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6516fd0e-d27b-4cb0-b8d5-0f3332099653 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3016030a-8da7-47bf-8b53-4f6ef4b1dba8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43236c4c-2c42-4ccb-864f-c625f36bc184 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7dd249c-c60e-4feb-a561-66ff4faa4ad9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3a3e44a-2567-4516-9dd2-2c143a4039ec phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee40a776-09bf-49a9-8ffe-6a130c9181c9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:906adade-4603-4174-a62f-9d2fbf2eb6c7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90f9ba1c-f7d6-4edc-93f7-d98a47b02382 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:477c170d-0018-4aa5-9c76-ba7b33db3444 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e84eb30-7b25-4ccd-9f8d-4b4826f94b27 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b1e9a814-e26e-4db8-9e60-2d4ab9489264 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1c52807-bd87-4486-a67a-c19a2e3e1f3b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:427b3590-9a82-422c-bbbb-bb92fcc6b962 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fa5ef00-6829-481c-ba02-ab6d8e56e3d6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a92b3920-1df9-435b-8ffa-86e27e3a7212 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a784ca13-1fa8-4b7f-a6ae-85dfda6c2660 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc41521c-a380-4f58-a89d-8e28ed4a4ad5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2be914b-af50-4570-9a75-a70720037dee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:14e41436-8df9-47f5-b616-c81769e2cea8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4d58814-d91a-4c91-a154-2301a9e073ab phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aedb62bb-3692-45e8-8727-6ceae0ff4265 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4297e6c5-37dd-4847-97ff-9ef1a8467438 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73cd167d-da37-4fdc-99dd-d6d02aab8957 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08112a5b-6528-4d54-95dc-cb991f3dd6b2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f3a5c9a-217a-48e5-ac00-d59288a975cf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0bacec50-d7c0-43a1-a704-135045eb62f9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db72de54-16b5-44de-8d8b-828fbab1ef7c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4930f523-d237-4b29-9277-29646628db2d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb78166a-5d01-45fe-8cb8-63c582ba2b9d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:242166ef-9cc0-409b-b964-4491ab21ee42 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4a3921ce-ed31-49f7-900e-8e8a679af071 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:036849b7-13a6-4ddf-aa72-8cf5e47e7453 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7d9be89e-d9f1-422b-ba31-83b74efa8fb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:aca5f9c3-a195-4b93-bad4-c360ea037eff phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9ed7f413-d1af-403a-9ea7-92ef9158af45 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9301637d-77cb-4c82-83d8-6e66e13f2428 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6d129729-e68f-469a-94cb-7c4e1c2bf8cb phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e5eaa67-fa0a-47ae-ab8b-1ccc782c1e6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fd7e1e17-e926-4258-899a-2c56a2223b19 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e8fb1a90-cd67-46b8-8360-4213921c2cbb phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6b94f1d9-3aba-4e5a-aea5-5dee455a25c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4c6599f2-ae90-486d-8f79-4adfd5713880 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:59bfa7db-50be-4c74-946b-2a2df5c0601e phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84276e82-9230-49f9-ad62-cd1fdababd20 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79897ccd-7474-4726-af53-b123ee214e63 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dacc5c51-1cbc-46da-b87c-34c2e9efd36e phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a0522151-717c-4887-93d0-b2de03ee62dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54d8652c-7235-46a6-b965-bc4ee5774935 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2531c3c-a53d-49a0-8468-790c9565f0eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33f16629-053b-4234-927c-0a585f6f65f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11d8c9e9-0166-4cbe-95ea-e90637c5fada phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a658cc4-ed19-4d42-b8e3-0569fa20b515 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e58af32-15c8-47f1-81c6-a0f7ba7f2633 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:813ab263-41b7-42c2-a282-86fe38b1fab2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a30384ee-709f-4f65-8560-9950edb35a6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb4f7a31-9dbc-4100-b624-52f2d98e5642 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3737da93-cee6-4720-81b8-2bd2bab30e83 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f271d66-4bb5-4169-a8d1-0b351270c844 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4ef161f-e886-4790-8fae-ad990b43fbb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3523a126-d8e2-4fcb-843c-64cfacf03b28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32e243b1-e603-4520-b8cf-e1ee8e2dc2a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ec37b82-d7ee-4c08-8398-7d5086ede0b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d0a2cf3-0743-4fef-9d50-6b7d4a6f6460 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5eaddaad-9a20-4e02-a489-384b5e9bdd0d phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b89cc5c-225c-4754-8f0e-9c1d656dde72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65196cef-7dff-4f84-9827-42c58e9d2276 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d41aa0b-c705-4334-b9ab-58e5feff5926 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:feec90b3-1156-4119-9bd2-069878f4a93e phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:650d07d0-83c8-45e7-aae4-6af2c3066c55 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c007269-8913-418d-90da-441bc6e9e1f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4161b6b8-074f-4704-86ca-e057b1e0b16d phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:555e30af-452c-4a11-a5f4-ac7fcc5b9ffe phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bf9d979-e74e-49c7-866b-971c27ab902b phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:435848a3-a1f6-411a-9e4d-e6f7c75e9bb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c85569c4-8938-4413-b3e3-12e269a43983 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f8d2d20-526e-4712-ab3f-16d894679813 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a2b5097-83e7-4278-adf4-f6812a4e5810 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a2a8d50-110a-4dbc-9931-fed25f377138 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e1c54f8-bf96-431e-b2de-3803f4e07f18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bacb904-0f75-4f91-ba33-8b02dcc2d551 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9015c67-87e9-4bb8-a5b7-897e16c8141f phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5167b99-3be5-4fad-944e-dab0695d73e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c0b03038-0fce-4dce-ae7a-8c21e3e6a2fd phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:9df78796-a6ed-43f3-b9fe-2d7bc871f510 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6c054560-985b-439f-ad8b-ceef4c6274f8 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:02024a15-9032-4c3c-948c-c538a942f42b phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:26e2f394-8788-4b37-a09f-d2e90409f3a5 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5d450461-25f9-4df4-b975-996a66148b2f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a7dc3493-6450-48de-a97b-584bec18679f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:61bded4b-1184-441d-b675-206edcc19dde phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6acd504b-8817-494c-a464-1f368fd653f6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:15dda801-ceec-41f4-8a7a-f0faa1edc47d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6c51475e-88cf-4290-afe2-a6b0b82ea419 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9a5acb95-9f91-40e9-a715-6094e91d6043 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4db0e636-dfdb-434e-a054-4e79c8b85d1f phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd151e91-93f4-4d83-8aec-d23fcb3c56cc phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4386af8f-9f52-4c8c-9703-fbc01077cf8a phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c2dadfa-dbda-45fd-86ee-3a006e953815 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c0f8f22-441f-4ef3-bf2b-0f500d274216 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:edf81875-1e7a-4135-9371-7d89c671fb5a phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a40ca995-53fe-49f9-966f-feb23b454bea phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74c62244-ccae-46e1-a207-f1580a0d2808 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9d7801b-3dcb-48bb-ba68-2fbd60bec8e3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90c424e6-9fca-4a2d-8155-b53ae38a19b0 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3d6b645-e9e8-4784-9c5a-f66555b0cbc3 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a57ec375-a3bc-4a76-991c-679e83d59899 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5dd9b8ff-783c-4414-9069-299e5135e369 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e3567dbd-de5e-4dcd-92d7-fefe459d1484 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44ec4feb-4aff-4cb5-bcec-2b8d5aad5fb6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea39ade4-6919-47f0-8590-1dbcc953c988 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a0531d85-de07-4560-b324-5a0e7c0e96eb phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eaea9ba7-dca5-46a7-9c45-1eea59f97b54 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f882cecb-aa2a-48f2-9868-cfb5c1239684 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a40ba74-fe7d-4094-8a3e-88b97ab82dc6 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d4f0fe8-b34b-470e-ae25-7656a76eeb95 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:211e7680-3830-4845-b452-9ddfab2ba285 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f712873-3259-45d2-9814-cf174679a762 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:92a9fccd-489f-490d-8fdc-dc6ea8c95e42 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0ea1654d-c8a6-4aa5-8e07-9fab5e7153f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b564f773-5dd9-407a-855e-4cfc610ac7a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c9e9811a-5841-462f-a46e-e7cfc715801f phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4aaac71a-dbf3-4cfa-b3aa-22f6c2b82d28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:88f7ad87-1c21-48ae-b438-7bd412c11e27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cb940762-705f-4173-88fe-4a7c85dd73ab phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:467aac45-5fb6-4bff-ab83-bdda15b52d6c phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0645fb0f-6bd3-46c8-89ed-4f403da2dce5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3e4e48b9-6829-473e-934f-ae3c3df7eee3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01aff637-0b0a-4d59-a4f1-ce8ff0e4faf8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53672fff-f520-4461-af4e-53519775b922 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f3c47e5-51e6-4b22-b536-34281c92ac96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d17484f3-c766-4fe9-a343-3bb0ec4ec0bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ef0e198-be1c-4873-aa07-7ac876dd1235 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b7048b3-2075-49f9-8a83-e302fc76a39c phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd8e7835-3a00-4674-9b84-f6abaeb9ef81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d3dd7ca6-830e-45db-a2e4-2bcae87c6249 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe535005-9b54-4d42-9417-43b646987b3f phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:76ebbf89-2ab9-4f32-b27e-77c5a6888446 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b331a5f-eb03-4fc9-834f-5779394337e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74535398-ca55-4dbc-a56e-4aa8da4358b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1c24bb0-743e-4349-9482-64a108b46683 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:458d2dfb-bac0-4074-bc12-aad9aa62d22e phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a8397c4-8a07-4e68-aaf4-f53348356918 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5363dfa-e633-4300-a20e-4fae664b90f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b23459ac-8b6f-4ce2-b64b-419a04cf3a97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cde05384-e612-4a8f-8275-26a31aa85735 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7cbe99bb-61df-4709-9ed0-47820eebaa03 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce0423d9-c4db-4d64-a218-499efabd879b phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b7989a3-0988-4375-a745-a40607215a25 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06b4324c-f7af-4c55-93ba-70952da0100d phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f49ddcde-76ef-43ca-b7e9-a57fe1fc59c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ebfbf0aa-882f-46f3-a2a8-73b66bc48a59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:57c0ddff-822e-48fc-a715-5ad20e2acdd1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:796dc45c-518c-479e-bf2b-28d0eb4ebc0a phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03bb51aa-8d79-41be-a37d-93f78c4b37a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de6d8008-1db5-4d27-9977-697afd744214 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec4e366e-e468-4e77-b6c0-dae3e809602e phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1cfce163-b379-4fde-84ad-c8f8798bb592 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c535b992-b124-4d60-876e-10858e933757 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc900f08-a50e-4cc5-947d-7c3020f6bead phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67384771-ecfa-40aa-bd44-24c598e212a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:405c82a0-5df7-491f-8ad1-ed26b9c05c33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:161be45a-04de-4a34-badb-2a9e94243ee4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a165129-2709-4562-aa31-5b09ceeb87fd phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c96482c6-bf03-42f4-bef1-e9bbc6ada220 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10145a73-a759-460b-b099-8025749b0bb2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f9470a7-61ea-4ade-879c-a69224554efc phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6113727-dc39-4802-831c-3cae5539b5ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9221d6fa-103c-42ad-b763-2ba3e3b68b18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:675fee75-e210-4514-86ea-e6fefca2575d phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e0309cbe-206c-41ff-a420-7644695fcf4d phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02013c93-9a5f-40ea-908b-d42468fb8770 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e5e7e51-bb57-4402-8ce3-9eee1d697649 phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f38ebb0b-9f61-4cea-ac59-1b031e9e406c phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4b6a0e58-906e-4ea7-98dd-ec32181b2ce0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b6453a4e-6b35-4f79-adf4-5d476906789c phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c319f7e8-8878-4d4f-82b2-e3d13924161c phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f450f2fc-005d-4971-a706-96804a46a384 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5d54985a-1d35-4360-82f4-9fee68f83333 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f0839f1a-e10c-467e-bb61-f4c2d33f0000 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a8d9c287-059d-4b4d-bea6-214c54df67f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:423a6d66-6fc6-4e44-b4cb-09f5ec4597ee phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b3fc6de4-2cc0-46c5-a37d-2d8e8c058d35 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e57785d-e9d1-4ba7-bc4e-5451dec4e9ec phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf9d5759-f505-4bad-9476-cb3de65b1879 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cdf54ca2-37a4-4ace-8ef0-6cc7cede5d54 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb5dec2b-2f5d-4fd0-83cf-c62c56f89c71 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:89e633cb-2b8a-4daa-8496-f5c8fd3f78e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e3360a16-bbc8-4b39-974d-a12075261d43 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94e77df7-bbc5-4baf-93b4-09b2cd3a2d44 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ccd4dc5a-4d00-4ebc-9aa2-06938677aa12 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f835a5e4-17c6-4562-9649-3d51982e3e4c phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9af1182-a1b8-43fd-99bd-7e8b102765a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be122482-1f56-4e3b-a1c8-30d33c789fc7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5dd998a2-b239-477a-b9b8-a9458f250edc phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:573b2062-813e-41bb-82e9-2277c37b1b11 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92fc8a1b-bb8f-419b-8d08-44699702cfd4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84a06ac8-cf38-4e2e-931a-da7bb3cf0af0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e854266d-40eb-4500-b238-4587b88e7ce6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f79e40d5-8c00-4b45-81ce-70107b19f755 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a6cba0e8-00ad-4fd2-95e6-997ab65e5ba6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:15ef3526-d961-4ee9-994f-9b92988011db phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e050e68-6103-4a50-9dac-77e3bfff5292 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59d4ecd5-f81c-4c95-8c4c-ca9db1ed8bb6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:acc0b519-3f17-4e72-b561-081ff6d9234c phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f4f32a0-9ec0-4d4c-b605-39893a28c894 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:237ec57f-c3eb-4625-9c80-5da21bde3644 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68b7a48f-0fed-4d44-a645-6fb65bc86941 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e02928c-7ec6-4321-854b-2fe3605c091f phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d339df16-99c2-4a6d-b36f-f2aad5b95ffb phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eea1b04f-260f-4043-8178-2d634915b642 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04e7040c-bada-4ca9-b4c4-fa0e12e4ebf4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f59bb5d-f17e-4f36-8049-917ebdd40c4c phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59fd44ce-00e8-4650-b4af-578159992bc8 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11a59863-2e5a-430a-bf46-07c0cdd11537 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:540e2198-f315-42b2-b1a7-175f20176c6f phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24c3edb8-7fa7-4f53-a5cc-58e4a9f2dc4e phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d8461c4-69cb-45c9-a2a0-d57ba799109e phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea762115-a081-43e0-b121-3ef51b4435d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bfce52d-4d13-43a4-83df-e9e420823087 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffb9b917-22bb-4869-b98c-9b0af0b96fd5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3715524-15ad-46bd-a18b-841323c5ba9b phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fff669d5-d93d-4a93-8878-7d4cac9f6385 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb000389-d1a3-4dcc-a754-b536e16d4c55 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ece32df4-7bff-4354-9b8e-8de6075ae21b phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c631981-8557-4694-980c-b4524887a9c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:83bb18bb-283e-4f1e-b018-246e73533e32 phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:030bcb0a-191b-4263-ab63-547b4dced309 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:122c611f-288f-4dd6-aa50-9b3644c28462 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3fe18fba-d637-4f72-bd5f-142337ced03c phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ae0a351c-a1de-44bc-8ff4-ef662b91093a phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2737be93-cc64-42b1-8c90-e7e0cbeb1a23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7c127767-2ca5-448d-8942-6a0e5de3459d phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:152197aa-4f6a-4e69-9c48-6ecdc5c968c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:aa56066d-025d-4fda-8af0-cd3c4653924b phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03deb83c-3b05-48fd-a501-a7fa9d9ccb4f phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74753639-c8b4-4675-9472-4d65f35b0240 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aeba77a6-5e5a-4e9b-9703-2aa77738903c phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:86312e9b-92dc-4c80-90ed-6a4099250022 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f8d2048-2a68-4d46-9ad1-c6d6f57a33d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d18014db-4233-43d7-9731-a1fc9643e7c4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5aefc864-fcc0-4c4f-98f5-2789f2bd10f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb7c3621-85f7-401d-8620-349809074563 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dde1d86a-0fb3-41ba-a14e-af67b3ac55d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75cb5c4b-ed36-4da4-9050-3196a3e5e12f phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10b49042-fcae-43a0-aeb6-a9cdc7000dd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ef94184-1cb8-48d8-9ae3-38283494f735 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65851b58-2933-42c8-9d10-72f54d9e819c phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1307453b-fe95-40d0-91a4-4c57872cb9c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5527feb6-c90c-49ba-9c46-1cff2f5dbd58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3505ade2-33cc-49bb-a40c-ede2c8afa85a phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72f08a36-39f4-4185-be0b-97d70d4b3200 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b52a4d15-c251-4989-8795-bebd8a130596 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e9e8cda6-fe98-4b8b-81bc-6b9a9bdf2033 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f17f35c-a0f4-4d53-b185-375151109324 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:420ebe8b-f246-4548-9aa4-e94b0ddbefc1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1eaee7b4-2256-4e15-b47e-72fc2c89bc0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6146f90b-1505-4b64-86bf-3bd289cd3cde phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe8d6410-afb1-4dba-a03a-933d03a630d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8954d8b9-d7e4-46a2-a20b-4310ea514ebc phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:51afb902-b7c8-4b77-80f0-dafbbbf72836 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e5c194a-eefb-43e7-aa37-a35cd9162169 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22f45835-e9e1-4a84-ad2d-60923d2cf269 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e19c5a7-ca82-461b-9d63-13ec952abaf3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ca7e2a7-9666-4a17-8022-6c18aee13ccb phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f919adb5-4746-4fab-8885-677745376e45 phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7500ec8c-837a-4d82-b1ed-2b5b88bd5c6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:b1d7946e-f124-4326-ad95-ff4b431d016a phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:95f93a41-a9a6-462c-906a-cbdadfacd471 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d5831170-129c-4581-adfc-e457766f4586 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4697201a-948b-438d-b041-70d1fe2d0185 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1e076b7a-3155-4a65-8a16-02c7fc654ac1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5d15688f-f9f0-46d0-9da6-bc06d9377b0b phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c38f9fbf-ba69-4d0b-b9e3-3c5184d7e931 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a27faec1-25cf-4302-b78d-3cd0e2b735ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3825ff61-23f7-4794-a677-38cb265db6f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:85a89145-e7be-492d-9134-6d1489c3c9f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:59ac06cf-c270-4bb9-b06c-0e1138f65c85 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:73979a24-8b2f-48a3-8d43-56cc6b1aac89 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f15ba4bc-1487-4a48-9496-8de7147da6e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b874cecb-4ffa-4ccc-a0c7-1f633adc6299 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5ef175fc-9435-4a63-b3a0-f96d73d9508c phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a98e31c7-a721-4bac-8bed-747137cc9902 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcd6ca5a-540b-4604-b239-7d8b68ac59a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:622ac4ae-45ed-498d-9d38-66a660c1a4d4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63d6e082-872f-4ce3-9b27-2daea011a7f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a97fb8b-e2b8-445f-afba-377bec69d0ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3a9fec0-ee31-4db1-b780-f622aca092be phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f28c559d-ba35-4dd1-b2db-a248e7319174 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d71757de-b84f-46aa-bd76-6ecd0b9dd31f phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab1bf384-7d99-4a70-8192-7a1f3fb2e7ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdd2ef99-d1c4-4cc2-874c-5b8e4e6b110e phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7524495-376b-45a9-bf0d-8e3992754cc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de149d18-eb4a-43eb-9653-c3f7751b6b3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f4f6e5a-8fe2-486b-88fb-4c7f673048f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c27bb0e5-f5a6-4f0d-832b-fc24db9acda2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6597e22e-bdbe-494a-a509-c0fa1ccab277 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:947af645-15d9-41a4-a4a8-7c2aecdc4b84 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8c77ce5-c008-497b-804d-5e59a55ea48f phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33d9de03-c59a-45c2-92b9-1ee89fdc21ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e68f936d-f8e3-40b8-92b1-42c8f2cfb3e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e20fde43-9e2f-4b3b-8ee6-1d3d5ab9521b phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35d05f29-27ac-4489-bfa2-351f6ff6b509 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0107468b-4466-4e50-b924-5604ba8096f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:815064b4-8578-4c23-b6f7-da402bc0cb9c phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:392e7a7f-b841-4103-9f8d-1df19cd61c9f phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c2563b8-a73b-45d6-8849-175bb05b814f phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83439959-0066-4bfb-9362-d851acf2869c phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0dc5b954-3ed3-4388-8598-13e035d3bf6c phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8430e4b4-8bc7-4a0f-88a8-14285f736656 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01c5a300-4333-45ab-ae88-e87927104358 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:843b4d28-3292-4fea-9008-64faf16d07d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cc53e91-fb09-418a-9d45-ef598fe7925f phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8403ce9c-d7e9-480b-b878-7bda6b00a141 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1c25aab-985e-401d-be2a-2f46ecd883d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2af11de-3589-4a00-9c64-b9b6bbe7eb81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8bf6790c-089e-45b2-af5e-2edfc8a5754a phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1492dc1d-0c48-4a64-bf47-05da170114cb phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c303a68-c3b7-470e-a95b-407358e4d620 phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a6fcff63-94ff-4ccd-a407-b133f744282d phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:12162224-04b7-43cf-941d-e04a3c7fb45e phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f73d3713-a0a0-4b97-bf8f-400b49ea95bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1098cb47-9d17-4353-9e6e-b0748560ed61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d66dbcc4-4092-405b-b4aa-468805824931 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bebe374e-00e2-457b-a0e9-0404c2b713d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:be8092c8-3732-4dd6-b7cd-2b7d221718de phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cd03ca7a-6458-41e1-b73d-042759b66ddf phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4ce69f5d-af89-4526-aa34-947c7c2a797a phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3c5eb84f-3e1b-4469-a89b-563551325e51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bb40b948-e9ec-4a41-9764-e297aa63afdd phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3a19a23a-9ec8-463d-94f9-33a157684d5c phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:80132fb9-2fa8-47c2-9a7f-443fa9a3ae6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c134efa-e8a3-4d02-b4e0-5f9c70fd3eaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5322f767-1c70-4eff-8454-41473bfbe989 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8e2fd7c4-b169-42b2-99f7-0e1e8b53bd60 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:809ce4f7-d526-45f8-bd64-f6119d762358 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a649f46-c762-4355-8328-7d7a830cfd7a phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:778458c4-c8d5-40a6-9754-10745396d2e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d3faf2f-fb5b-4a5a-a4d6-4477718dee1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9fced48c-c1f1-426f-b566-fd9a519784ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9dc074f9-7e0c-426d-add7-30b5c7fae8e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13c7c0e1-5003-4b58-a095-e2d2b8ff4370 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5f0add4-7134-4259-8c2f-d3d32f477eaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c4e335f3-ed42-4aad-bd67-d4f73251730d phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d72ab4ca-1054-42c2-a08c-c20310b5dfa9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ef0a7c0-b6eb-4374-bfdf-11ef302a2982 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:488edb3b-de9d-4b9a-a4cc-377d177a8371 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2172864-6c83-4ff0-85cd-a040235a51c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f598976-68b1-498b-8de2-ec01fcab03c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7e4f209-f176-45a5-96f7-56ab3fa3ef81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecfed1a6-2ce5-4893-8983-d87368c00963 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ded4eb9-3365-41eb-a787-607fd61929a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ae7391b-9770-472b-81df-2bdff5e4b576 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6086834c-4e27-4f6c-8363-bd2539d3ccc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b58e6c6-6c79-4599-900c-b0093676b7e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81f724c6-e8cf-4c85-9d0d-4113ffa33703 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e0492208-3d53-4e89-93c9-24c849b24b5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:81cb70f7-1f49-45e4-800c-417c5186fd3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e0d2651-9d32-4c53-abf4-7747d80412bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb551af1-ae4f-45f2-93e4-d925fe45bee1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a2558dd-0b24-4088-834c-d318bc9bd5ad phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b72e731-d078-4e47-9bbf-257d84cc184a phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d7dd640-ca6c-4a97-9770-e0f765f4dc91 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd58b39b-ad74-494c-8993-0cd6a47a55a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da9c2508-0822-4e61-a7f4-94d0baecea95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24c6fde9-7472-43cf-9c44-6909029f822d phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd0616ba-8544-4b84-bfbf-e0dc94425776 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:688007dd-a638-403b-b93b-b7b189c9dc24 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:161410e1-0518-4700-810b-b8ef9ec1312f phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad3c3e73-ff67-408c-8fe3-c8108fc4338e phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f10c0f9-9fd9-49de-8134-3ef99ba33ab9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f099cc9-b367-45a5-bee0-f6872379f662 phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6086b216-5307-40a3-840c-1f86499f5e3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7275a2de-0edc-4b6d-b17d-3c9a7c23688b phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7ed95407-334b-4cfa-9051-ec2335ce8289 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:567bf0fc-2e93-4168-a8ab-259bdbc5f42f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2ee65f4c-40b3-4a95-8dc4-60c67567c653 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2044ecba-ada8-459c-a345-cc94e405df6c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6d7095b8-b4bb-4a5f-9ea7-535d631fc7a4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c1dccafd-cfec-4fc0-ba4b-8a94337247ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f66372c-90dc-42a9-bacf-e121352a09f7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:684a4937-1ed4-4f3b-9b64-7c2ae3a7cef1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7450125b-e219-4db7-b69a-edfbb52c32e1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd1ee0a8-8e24-4295-af23-5cfa79b2c2e8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f51956e9-de71-48e6-be31-5e897a5dd985 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b56bdb6f-40b8-452c-a6cd-d5d127d8d993 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a0b9848b-128f-477c-977a-3ae67daa512a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:deae1b29-e77e-4fe6-bf5e-ea103cacf3a9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:668c7c83-08bd-45d2-8121-a76669827631 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7599d405-d41f-4011-8d1b-f5555209f90c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab0fe86c-7faf-41bf-aa58-60aa7837e75e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd19c237-9784-4293-8d0f-3f2cb56971ce phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bbbd0e13-7049-4362-9887-39a29d3f29d3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93252316-c603-47bb-8a4f-8ee9a30b17ef phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59a3df5c-86ad-468c-9e59-bbfae8c2d26a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:672c4248-e0a9-426f-b418-ca769289633c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e9cc598d-18f0-4a2f-ab51-bbc1e03ae9aa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ddf22fc-472e-4865-acea-0db229075f05 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f43cf05-00a7-415d-903c-f3ddb6b3efee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1c5d64f-dcd5-443b-a91b-d83ccf51c8cb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c52ed22-290c-4934-b595-c906edc22d8b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c343a16-98ae-47cb-9f8d-584112a48375 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ca28fe7-b8a4-41ff-b219-544ffb6baa6c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2396beb-75ed-42af-99aa-5daf7c337941 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e335b60d-4801-4eb8-b49b-bf9dfd0d59fd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6cbdc1f2-2cb8-44d1-93e8-acc51a9dfdf7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d41747b4-0099-4e70-bad0-ed2075ec0aec phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f392746a-14db-4d36-969a-931c8b2290aa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8d831c3-b1e0-4a26-a31d-8fb039050303 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75c77760-7eb5-4745-8e00-bebe5990f7a6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9daa6fa-7c40-4430-aabc-b2bdcfe3ce00 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3521f7f-e1ac-4460-a446-84f062a3573a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf732fb8-46a5-4d05-b5f8-cccd6a975b31 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8efe4438-a03e-4690-99da-7cd1caf9ccd3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28978fd0-a00b-439d-994d-63c7f455dd1d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cabf4574-5368-4f9e-aa70-71d88a928e84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c788ae74-0d88-4a86-a184-ddd33be107cf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1c9e0ae-425e-4255-b0d1-1f859885fb1a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:641884d2-ef03-4f97-81a2-7d0f8fd83e01 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5484239-d372-4851-9371-132e9c606e58 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c3a5ec9-b146-4042-837e-c7f8a98c0d7b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd051e23-8e18-4e01-b9bf-30fbbc5d560b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99b637eb-65ab-4773-a927-a38c3dd5e660 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eddf90ab-c8df-4997-8977-747c495b7336 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c251cca5-cef8-4567-993c-f4ee435b32e2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:290c8199-a3c2-4d0b-aa86-1496296f9b5e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c0720f8-10bd-49f7-87e1-b25cf626acdc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:fca0d50c-fffd-4cd7-844e-4061fc73d5d4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0bd7f282-32f4-4037-a981-c8261ce5fbd9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:602a9264-70f3-4248-9cb4-affd3fe0bf1c phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d327fe68-73b3-4597-8339-deabcc66afcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9a3bcfa5-9c1a-41a1-b3da-5ac0180e9d7e phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:32c3daed-5665-4742-b850-72a57406d1df phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:31ad75e9-ec5b-4a77-b787-20b0a89ccbf8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f41720cd-d06c-44ef-be39-1e03829580fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60177d9a-12f1-4367-a55b-61ecdc346834 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cc026367-48e1-4269-97f7-75371aaefac1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:35bc0301-2b3e-4a46-874c-126bc2ee3441 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b048d59e-0abc-466a-8204-d1a44a4030e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6873e8e1-af17-4362-8df4-a50069fd751e phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa5903c3-26b3-424b-aed9-9698358d7e87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e67d2d1b-3741-44e7-aa70-981e1118c14d phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dab52d14-0cc5-4eaa-956f-49e949b0e6db phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60903389-ccaf-4b3e-af7f-f5cf558826e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f42f73ab-4701-446e-8592-7abd70024864 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:607da4ef-dd6a-4da6-99b2-efc05a4814fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de3ea597-cad4-43f7-b873-99063b47dd81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cfce451-17c8-488a-8e04-04a0dae5e9d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a00e1de-40b8-4119-9dfe-79dd840105a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ea05ece-f0aa-44b2-9f7f-89075f35ce1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8003f58-d907-4f25-9f71-ed4d07b3fc39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25b8d56a-cf91-4c48-a945-7cb50eb89620 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1942ac49-ceba-4132-8d16-6e7a3a895af7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d446845-d1ec-4390-a3f8-5a1124854833 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf503a00-f8ad-4305-9b6c-fafd1beae77f phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd3218d4-e86a-47ac-ba58-347702e20fd3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b289157f-45c0-4bf0-8834-d9a0d7f143a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5ebc6e4-e638-4fcb-85e7-c75ef0e31a51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:86a527e0-8252-4bb3-99c0-8d5ea4075c79 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ad73467-1138-4042-8165-fa6df3c8fc9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3958920d-a79d-447e-8b37-24ed2eacba70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e06c90da-49e0-451d-9edc-d8f0ec3ee279 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:301c60a7-ef77-4f47-9434-95e260fdd6c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69ab3bc8-82ff-4bd5-a1b5-2b207f800fb7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d19e2919-5aea-4919-9861-3cdf64ce2604 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:441e84d5-e1a0-4d94-9727-7189aa3245ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d8ad223-c0ca-4817-a523-ca92e8b18421 phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a408217-4ab6-4ef7-b209-895a2160219c phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:4bddc657-7654-4ca1-81db-b961390eec3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:31594ec0-810e-40cb-bbbd-b3288bec6539 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c06e294a-7192-4e0f-90b2-c9dc9e70fcea phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0f06edff-c755-485c-b06b-c0d70a7616a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f59d17e2-a01c-4b89-9dfa-c4945a30a09c phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d259c714-3375-48dd-8259-156fe72fac87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:100adc5f-64ce-4217-bdc8-7b08eb23d5cc phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3804c548-d951-4280-b642-fe2395784bcc phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dd129f33-7d9d-45b6-a9a0-10ae7f3a6ca6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:fe441f03-f736-42c0-89fb-028181e32ccd phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f2fae4c0-2770-4565-a4ff-d32e511122da phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:195fbcc3-6dfc-4a40-8121-b69353762467 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:319a3748-9092-4bad-abec-82de8fc27997 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b6097d7-19eb-47c7-b9fc-cdc1e239018f phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32d144b0-711e-4bd6-93db-56b4e95982f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68d48414-f4d3-434c-a697-cd455c0a11e1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:481d15e0-9f10-4c84-a4b1-402c018fa2c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f067681f-d849-4620-a1ed-7c54de2230a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ef74f1d-3cfd-4f79-9991-67109117cb0d phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc33c845-9842-4553-a984-f3337fbbeb55 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82eaa9da-0dfd-4a1a-887a-77f0ceeb5c95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0a5d1b7-473b-446b-ab74-ae136309f33b phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:201177b6-d107-431a-a445-9dc2d8b08b8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24bd5289-1564-4303-8f8f-ecefc665627b phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f72aa266-05b1-4ac1-8aac-2d75f0a6a341 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63412f1d-d2d3-4fb4-b199-a8be7ef29079 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1547a781-0c19-435a-94ba-907f23ecb619 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d33df2e0-2360-4929-ba18-3f57c4727b21 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b1736ba-724c-4b2e-be6c-25f6a48958fa phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3f2ec44-d5b3-4ec5-a275-3f44557fa513 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:391b0bab-4f43-43b7-b9bd-8d1fc03a5088 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c59e7e70-6965-41de-9e0b-be68044330bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5224229-f848-4c3c-9144-ba15f7959706 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd5a4820-8ff4-4f2d-a1d0-e52d66a2e977 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee612a6e-c434-47a0-842b-cd5287834fa2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04fd7437-f86a-4138-8320-86cfd7f0335b phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88eb7bc5-4178-4410-b298-45ee52400c3f phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:00c13400-412e-4bb0-aad6-0efd106600ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff0f6b08-8802-422e-90d2-b8c46b3c09b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e70079a5-ebeb-4f80-b671-87441142d39d phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30153558-dd7f-43f9-b74c-103131c48ce2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e0413e4-a680-4ba7-b834-6f582057bf13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ade333c2-8af4-44c5-afe8-99739f9fabe5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:246ea356-d3ea-459a-ae62-8b8efc1e3579 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ef20483-f1e9-43e1-be47-0286bfdea2e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68b8a67b-2db7-4268-b2c3-c66ed4e0a5f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:406bd2cf-682b-4ccd-b6ea-2ab418d6a732 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:50aa45f0-6af2-424f-b8c0-7beb69cf2249 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06424c79-728d-4114-ab0f-c9b3ffbc496f phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce74570e-a06d-412c-a650-229ab295aea0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18bb7937-5ffa-456a-9e96-aa415f9d2f6a phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f1fbdab-ed22-49e7-80df-560b11631962 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:93fa497a-47e1-43bb-bb61-2926d5425ef3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:30d04b55-82da-4c7e-86ff-58d3c62bc6da phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f0f1f167-52f8-4078-928a-c1e021a75f58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dd51395f-1add-491f-8301-6547390c5c3a phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a89b5cdd-0bf5-4da6-9483-267d1d6e61fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e1672072-1a57-436d-98e0-28d0bc63af7b phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4b1bb582-01d4-4ac1-ab74-79684a4c06c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ae59e863-1cc4-4802-842c-e19e08f1eabf phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:77bfdb6b-5798-4ad3-996c-cb6c26d29c3a phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b54eb2f5-52ad-4d15-9852-334ec93804a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ac38dd4c-20a9-4c25-9069-276612fa4ecc phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:46da8fd0-dd15-4873-b8c1-11de06ad8fb1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8553476f-77b8-4639-a468-c92090419a12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e352bb6-5857-412b-a3bc-f3c97027d986 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:540c19d0-7ba9-4271-86b2-15a8598aa9d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e280f0e4-a6a4-4066-9da6-ac1e869ab49b phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:011d9b01-6ffc-4575-aaa4-102c9ee28df6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25e71f55-5477-4ea5-b254-f396c8c490ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c695231b-5269-4a6b-bd6a-9529569b8ced phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8718e53-db64-41ec-b09b-480980d2158e phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f436588e-4888-48b3-8095-29953c0d5221 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd84ce76-2412-4471-8794-41438b430471 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b0c9f69-2370-4be7-b537-8b3e4c1edc84 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5355e9cb-f2ee-4b28-9a68-375244e51145 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ca35c32-e5b2-4092-856c-a7e497a6b19f phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a10e95b3-fefe-455c-a2b4-66dca1a97107 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:583da3d2-8c47-4f65-8408-490bdf9313d8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe21145f-d1cb-47bb-92fe-179f80579314 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f9c26b1b-1431-43d2-b0e4-4f6703bdcd75 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:055b4558-f500-46a1-9c72-1c4807bbbb4a phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c9af1793-f318-4f3f-a944-649559eb90d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2da598f-73e6-4d72-980b-552b7e1afb68 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33860408-8fcc-4828-9122-e8201e076338 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64261afb-83c1-45ee-a063-68acc21dc39c phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f434df27-e3d3-48bb-b0b2-624c10a0094e phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87789cf1-879a-4d65-9cea-8bd46a32eca7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eda107b7-bc38-4f01-bdb6-81ad020f6d23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c0426e02-d610-4415-a7e6-759169545740 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c2dab58-fefc-4ef2-b4b1-4fb75f7e5fea phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70abbd80-2790-41dd-b816-834a77029ba8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:648ba490-c1a0-4fbb-abfa-bde2a4427dfe phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a149d36-1140-4359-9100-0a1ad2760620 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c4b624b-e0ac-450a-b049-f7b8ff36ffc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:241b9b5d-f0c0-4dc9-b7c4-a1e4b5e883bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05793d08-016b-45b2-8124-c6a9d99912a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f304547-2771-4d11-b20d-8c52b5a61f9c phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e11b0314-5e99-44e9-8658-b1e53cd49746 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90a967d9-9d63-42dc-a0ad-28ef1320f743 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d4de288-59ed-4b33-9f29-4c43d90f38aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8d51667-164e-4622-a34c-e20f1555efba phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b9a0a90-ae29-41ad-bd47-3fb1af75e367 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:23b274af-a32d-488e-b875-03a41b822998 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8928c1f-4e37-49b3-8eff-115a1f5b1672 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7d0876f-1b65-40d5-83ea-fb861e6f1ea6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a66ce682-7727-47ac-b2f1-7ab8d2780b6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:92e60671-b48b-4646-bf28-896589d5597d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:aaef98e7-00ae-4b26-9c80-abfa24871af9 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3b0a5f14-a66b-4139-9a81-5211cad09713 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b988e5da-eef9-427d-8e3f-7ec988bb3574 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fd057dd-6d0b-4d78-9df3-e70d722fd102 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:373942f3-4232-4076-bc24-191feb10b8c9 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc33a45b-e6b2-41ed-a5df-e316c653f748 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a61d6273-aea8-44a0-8177-a4845652b2b1 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0772c3f1-66ab-4fb8-b7c2-d8eb6c36a02d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dded57a7-4a98-45e6-8c85-347e4c3a0fdd phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2082a16b-9b26-47ad-adbf-c3ef7e405395 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22c2b3c9-3121-4f77-b520-606c1af8e7ab phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e30e5be0-5afc-40f8-bf87-7034b6767fd8 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34742945-0244-455c-ac2f-0f18f154379d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6dd4073f-d488-4705-bac3-a316a80c0d7d phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:766b8eaf-ef24-46f4-a4a1-3d7144296045 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b1914fff-c19c-4c1a-9c9f-baa668358690 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0972c9ae-4b47-4496-9393-8b73333fecbc phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7a76efc-1ec1-4d31-b1a1-5551e841cdcd phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:79e89995-7ca7-4b8d-ac7c-bedbbfe8d232 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f82da4ba-5b59-40fe-9493-10c5193d59cd phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a7c02b55-8703-4907-9e11-d541a02c38d5 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21641630-0da1-4ebc-a2c4-06d8a0391e0c phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6d57119c-7130-4b3c-8b3a-1623d62ddb11 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3fd5dd6-0882-44e7-9b5a-f0b1e5d2b330 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02a890b9-3948-4acc-b1ea-621bf7866f58 phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c231caff-98f4-4aa3-9adf-d101eb248cba phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:519b3349-65b1-4ae5-8d15-28da7544838e phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:681470b4-6ffe-4581-a8d4-d40ad43ef35e phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c4aeefd2-9ae4-404c-b884-9da39c5efffb phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8cb98368-9cff-4a9c-ad00-e7ff243f4113 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d18272ee-cd71-4eb1-9eab-5bf352f6d341 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:49b1c10d-210e-4a31-8af0-8a321b50a3c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b43d8316-895e-4ee9-8dd7-9fb8a14efd3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6b14c945-2623-4d97-9a30-207c81cdeedb phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a5267016-6ab1-43a1-821a-a81c4f48a314 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:34778485-09b7-4c34-9f20-d9ff9595fcdb phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a4323510-4ed0-41d2-90dc-5b9467a607cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:77f3c524-6c15-41fc-a6a5-07bf5d54f085 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dcffbe4d-59b3-46b9-88e5-a7e2599af847 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3f8b570a-d7ca-4b0e-9e03-873c971f3eaa phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9f719365-950e-41fc-9be6-a729a181a1f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:de88cf5a-af7a-4055-939e-2c693f0dfadf phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3506a7b-954d-4009-a460-619cd0f16419 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aec5390d-1ac8-421d-b0f8-bcda707b40cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a8d6749-19f9-4571-a888-96cc9bdabbc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd42c5fc-43c1-447e-b2bb-27edf8203183 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5968d05e-5c62-42c5-84fc-c4eab26a305c phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99a7d3cf-16b4-42c6-9081-56295aff1538 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21d9d5b8-ad6f-421f-b7de-a842d3a8159d phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60d9ed23-5b1c-47d3-afde-8f3d7fcc9a88 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e68341d-8a1b-4458-91b4-44576a649b22 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45c8d4e1-7bc7-4324-acb9-04cb63d2a44f phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecc460c6-e15a-4875-a246-1eb4dfb36d3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9eeabdf1-adaa-4fcc-b5d9-0a6bfff94c6c phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30ff86b5-46dd-4761-b0e9-db06ae3bb62b phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a331005-6095-4c15-801e-eb0bb7eefc59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6124aa41-9a87-4cca-9766-0d7e64b5f20f phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c0964da-e52f-4789-b2fc-fcd13f747b41 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0016ce4-6953-4225-9e2f-1c5bf998f516 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:512f3db7-72ce-49ad-8e42-33faa7b91d95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a9d0050-fa40-4f65-8d35-ff7be7ecca5e phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b84c840-1f6c-4315-8f3b-2516f43e7aa3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf01213c-369e-4f3d-801c-04f9138deb0e phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3317af8c-9d11-4024-be5c-d191e2fde170 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da0ca39a-bc12-452f-9f2e-a40d7474f610 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05fa6fae-dbd8-4710-b684-1f6668e657b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6f77256-11a3-40ec-9b7f-1b4e8447b094 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac55c70f-8949-4a3a-ac99-a3565fc1da6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcd71979-5654-4377-89ca-f0de64c08a82 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fd9825cd-acba-4ad0-93b9-d339e9e4eab8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d152ea3e-8433-428e-997a-cf5f180112fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11f8fead-7a47-426c-9bc5-5828de2e999a phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44954c84-fe1d-4909-9cf9-ef7613f08f9d phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22f0295b-428a-4e95-a3e9-1cb4f01eb2aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:129268ad-b61f-4975-8a07-1dd52d8bb2e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0fc815e8-97db-4a86-ae67-0ed94ba4d56d phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06236c78-1c6b-4871-af4e-cc0e155d5e34 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8df20645-12ce-4d64-ba5d-dc70df3e1089 phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ece5217f-5b1b-4ce1-a699-53b909043509 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e10fb650-783e-4eba-b6f9-dca9a8996028 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d73aa435-b79b-4ae9-b2db-4f1088dafcdc phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1f99b858-ae04-4ec9-a502-5c49a348bded phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0413f00c-789d-419e-aad4-51a9a758d67e phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f0142417-aaab-409c-afed-49b0bcc34fed phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f44ce996-9628-47a6-b64f-9a56a7f14fb2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e59ef8d-c546-4b71-b63c-2ed755e7f029 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60d69e8e-ba0c-4047-893e-accf3b26cbef phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1171f7cb-1089-4a7f-a101-51dc7c2e93c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3291a0bc-bfec-43ec-b363-c395431e1de7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9f1eb9eb-fc22-4a2a-b73f-b7f0a6a2348b phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e2afe943-4062-483a-8136-862c9ab0d963 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eb564c07-1bf1-4076-98a1-c3aa0c4c4004 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61c808c9-086e-401c-8472-fd87290223a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6de5f48c-5e8d-4b43-a2d9-b4664b6c5913 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88662a44-fe04-476a-bb9b-98c9ab1d2342 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9cf1d428-94c4-45a5-93a6-91a2ec9f9159 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c3b59b1-f4d4-4ecf-b9ae-1c67f5094a0d phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54f3b2ad-b495-4cdf-96f8-857121f82de8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bed55b58-715d-4851-b171-a192602b26a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12de1b46-d4ce-4b8a-befc-cfd9e9556cfb phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ec9c0ea-e440-4629-86d8-727db9f410fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d514084-cbc6-4e2d-8641-8408a833facb phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:613085fb-8980-4206-8cb9-2d0f8306cc1c phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca10620a-f288-4bd1-baf9-d80790f03926 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e5719f0-6288-47d2-93b0-703e9744a620 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2df892dd-5dac-4a1c-9278-667026c4b6ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:58130497-f910-4ae7-955a-8726e42eedb4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a04a9e0c-57a3-4903-8f43-569db45a2d8c phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:573441bf-d2f5-4c85-b31f-672d32da9c98 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93f2281e-d828-4d4e-9120-ef0a6513472f phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25eca592-9085-4cd0-a676-46e60ad3b894 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a5fc4b9-d5ca-4c3d-a20c-83c4f9e29ad5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7072ac7f-4c75-4175-8881-26d3fa0e47f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2194f2ad-85fe-457a-ab57-1023e70805b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2ab6411-0e63-4b95-99f0-3fa1ec52d56c phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a0b62f8b-45df-40cf-b03b-ac67a0e21cc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:516ba854-8fd4-42c3-9ada-9bf4e0a3c846 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ff40562-7e1b-40ee-9622-8c3a340b89de phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4bc69a3d-f914-4fcb-80c7-528c9813b4b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5201b508-b2c8-4954-b6c7-e4cfaa32f1ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:287b1385-b464-4a44-adda-1303a67bd67c phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:cd9568d7-98c2-4eec-a9ef-ee03ae222c8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:77977208-7c99-4958-b00d-2c28a3b0a5ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9adad556-cf44-4f61-89a4-7ada93e335ae phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:02b23c17-6e9f-4fa3-8d51-5866bf8e78e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:446b7d5c-fb2b-43d7-abaa-acf483b9581b phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f1b74002-2aa0-46ad-a7fd-261e5cbf541a phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:efc5b6f3-d0b2-4785-bbd7-7b1676e4d340 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9343b050-08f8-49af-b13a-40a7bddd3f82 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0c063b8e-d482-4c37-a8b1-f1fbc6749ac1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4ac717e7-d037-4ae0-a096-95888074ebf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5b3c0fe5-5476-4b41-b412-31485991e644 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8dc4ce93-175e-451e-9eff-9c33b829989f phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b8882eb-240c-48ec-8b6a-582affab9774 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cefb383a-11f8-42d4-ade6-59fb2c494229 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:380e5a2c-b5cd-4074-9570-bbd892533e5f phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e39d07b2-fb72-468c-b6e0-e5d289dc6a56 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4e1bce30-146a-4c14-b554-304a7e917b97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71027de1-9c9c-4570-ae45-0c41b139e2ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:335faccb-6261-46ea-98ea-72469c8289de phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56c6f3a0-ca87-459e-a337-70fcff9557c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a4a0eaba-d5d0-45cc-a244-68620d5b5f29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed452976-2f5a-4bc2-ae5a-1f686715a61f phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d4917cee-def8-4f55-ac55-0157a31e9b12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eec18dc9-0790-48c2-b546-bbac5f3f428a phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:774f2c05-1288-4b44-86a0-d4746b04f049 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cdb69bda-79eb-4399-9ae1-7b2071a7f633 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a91ec8f2-42ad-4bbf-8a43-911d4be18a1b phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc599a01-3656-4172-82e2-ede0c8d91ae8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:688bcfda-420f-4c20-aedb-01d28278adb1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f96436f-9bab-4e9b-ba21-62742b89db17 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d30d93e8-5019-45c9-beae-8123af859ad8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26c9f532-5594-4a42-9a42-6d8c4a9a6135 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2fb405f-5b24-49d3-99bf-0493dbe8ca61 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e59269b4-259d-4577-a442-7c75d5fecd38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28da3076-32c4-4624-84f5-37edc7c78156 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77a6557b-3000-492a-af72-edf935ed0343 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:094b3bd8-30ed-401b-9941-8b186a2f2c3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:02e95667-99fa-4a15-814c-7133142194e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4e16bc4-c3b1-4b6c-b2fd-a8ff82452137 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87cca8fb-ecfa-4529-b0d9-18bb49a7f3b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:384bdf34-32fb-4712-91e7-8d40ef34e7c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7a9a05c-51f7-4eb9-8968-5fcac07ae568 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a5ca26d-26b0-4836-a2d7-eaf878a45b87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0b6ce93f-a2e7-4f57-80a3-c105e885e192 phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:9835769f-43a1-49cd-8b4c-a55d28d315a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1699ec11-feb9-40a7-b659-18f87937600c phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:18608018-0732-484f-856a-d8a481277e7d phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8c9301c8-ff80-40d8-ac43-fc0c260f27b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:472a62a1-bc42-46ea-afe7-403b3f604aa9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4f8a3d9a-2a46-45ab-8e4e-5f076257fa96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8ff8f796-249e-44e1-878c-b6baf8590e12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2b7ada68-4e05-49c4-b481-854c1304fed4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7c2bb90a-b68c-43b2-93ec-ede2d66d5a13 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2bb30c07-4261-4a08-887f-f8be9efb5372 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ff6cda13-0639-4455-87ab-d0da5f0cdbde phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cec05f85-7ef0-4db0-80b2-53692d1dc74d phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7a974824-5a94-452e-a74c-2bb117bc1d62 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ddd0fb51-ff45-4e81-9401-98a21536558d phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63597682-afb4-42a9-9da5-f84ca9d29ca2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a58a1c21-8cb7-48ef-8cc4-005ede310d23 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6aebc387-6966-4fc6-8d20-c759f4f5fe43 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59aa3daa-5656-4203-9212-d32c6bf5bff4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01497d27-9fd1-4f84-abfa-75f4f7a95af2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a46ca579-9999-4e19-85f5-f20cea8403df phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6753b660-ea10-4ee3-8497-f6cc8a7dec57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66b5f042-cbd2-4e74-9813-f9869a001505 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3987223c-b0c2-4543-a733-3f0a8d236c32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c122535-40b5-4efa-b682-0011018aa397 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a39c033-a9b2-4b49-a727-9ef7e04e1487 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee2fc69e-6c18-4a19-9e86-a3c6cc8b8288 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a031e0cc-0453-441a-9e15-d8dc7a480dcf phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:496102e9-9ff2-439b-a7f6-c5ccfd1cb5fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e16f7b3d-4370-44b5-a42a-438ab6df44e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a779c22-0150-4fbd-b789-ee07a2e392ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9e87aa3d-0f9e-429e-b54c-276919da1aba phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:24bc8953-98a4-43a2-acd2-c00e8c3716a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afa221ff-9841-4076-b1a3-918d8b911811 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ccb97d6-da86-4834-bfcd-f96a89d4ec38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28d3f8b8-0760-49c8-bd4a-05891da3a243 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48251f28-16c9-4845-a69a-4da3443f8742 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:28ed8004-9fec-4e97-83b6-5259a994dce9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:569d9d55-9aa4-40e7-959d-29c2235749d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2870f07-eee3-4526-ac51-e8e364df9bd3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0f78b716-2fe6-4713-a233-f8954fe0787b phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c64c61a-d25c-46a3-b1a2-735c09b42b97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc187eff-e34b-4ea2-9f68-2591eee1e266 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ab1c167-87ba-48af-b976-3517f819c1b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d092768-4ebb-4bce-9c54-2a5241e004f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5cdc5326-7f2b-437b-9029-a3fea4f4dbdd phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b080d4a-8795-47aa-b31d-24710dddfde3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8892e917-26ba-4a94-b238-a4eb50c6a79d phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecae11fd-64df-4867-8c7c-8ac2143d5e15 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2609c6ef-b141-4d11-b414-2d0425785394 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7b3bad2-8de1-472b-9d2f-067b99ed6aaf phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:13c98223-ebd0-4a0a-928a-978b4778f348 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:6f8c7620-9803-4a87-9da8-d91a7aefa8e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:e7f1207a-0209-414c-a2c5-94ba75490b2d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2f3bfe33-5647-463a-ab69-ab49f8744231 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:43a26684-526c-4a11-9d31-d552eaebd307 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60fb1055-bddb-4552-95b8-58be88d4f307 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:874ade0e-4ffa-47a1-8388-743ab3987d9e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:435845cb-04e3-42c8-a65e-d6e6c8bf138f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2036a97e-a4b8-436f-9a93-04b5ccb367c2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e18dfa2e-ccfe-4313-a5e1-dff38ac12c5e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8f6c41c4-a52d-485b-8e29-e38bc9e5383b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:77b33706-1ff9-4231-85c1-fbe58b08cc39 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f30dc89c-c09c-466c-a9ff-fd192de28548 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:189ecd70-c8a9-41e2-b035-313011b39efc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:caa27f03-51d6-46aa-8892-c4631e211fa7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:10e08ffe-55de-4f3c-be9f-2dd3ac9ea36d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:294264a9-f33c-4d3a-9d0f-bfc7706296f6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:058087e2-cad3-4acb-8b76-362ce9a14f4d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0293b28-d6a6-43da-8071-c1b2bd80d9d5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6cbaf6da-b10c-4416-a722-6b9d26a33bb3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed7cf5c4-99bc-4d68-8605-be68f6f707b1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b02303f3-d4d3-43e5-9c30-1fa437d51811 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1d16285d-b366-47e7-a3b6-ea715ef24e1e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a039deb2-d8b4-4466-aadb-552f54059d2f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b8d06e03-f509-4fc8-9b66-493ab01347b9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a885431-aab6-4413-a71d-1f6636592502 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:112b9842-0fa1-48d7-84ce-b1415a9f169c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77e80e0a-7fc8-4a45-aeab-b75d36b75dd6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a323634-9485-46e7-8fde-88aee1583a93 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8be0caea-927b-4515-a8ef-54e00e3ff2de phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a28d63b9-b9fe-4671-bd44-892166e0980b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5284b159-d9a9-4f2c-aeab-511a356c96c2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e3e626fe-fa65-4921-854a-6bb239090348 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:736a2ce5-2dfa-4de9-86f6-e38fbf2404bf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ecf32e8a-23ca-442f-a901-42b1e4a7b3a1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:97bb6a76-8f7d-48f6-8a3a-e8e318386397 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4150a76a-1eeb-4ed6-b655-40691951aced phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffb17db5-d39a-4804-a592-a7771f02e6fb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34e9b128-46bb-4a55-a4a5-08e347a1fb5c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22d42152-b60a-4fde-9c87-39abcf057fb3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7649a1b7-96ba-4a19-8f9d-46aee4ec36eb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab1cf4c8-efbb-4f28-a737-0033ca5bb033 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7bbeea99-7105-42cb-a2d6-f6e4b06496b0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea2aeff6-5c2f-4579-b585-acf1895dbcfa phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:74b362a7-12d4-4a76-b11e-75e7a4ba7688 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:059ed7f7-da56-4e60-98bf-2a67ede2708b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:134a8d97-1233-44f2-82cb-5f4c3202e228 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ea13c335-05e8-493d-a9cb-323d8ad7f5d3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5666dfc-1bcc-420e-a6b1-0f595bfcc2c7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f8fb2aa-6451-412e-85de-b32762207d39 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a486b3fa-6ee2-48ee-ad88-35cbf0c08fda phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eedf4c14-d8f7-451f-8683-e18d3db62359 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bc7e2f3-b957-4a46-b977-fa622cacb87a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3df0f376-893c-44aa-9f71-37a170eda6cf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a098a14c-2a3d-4e4c-a5f8-d101d3b3de40 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:f8857658-d5d7-4e30-bf55-1b841d182b70 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a2201f87-8f89-4561-8b82-45c1e0a792ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9f12d77b-cfd1-447e-a2a7-7465a8a7dc56 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:363caba9-e50c-4443-aff4-d49e23b23b61 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:40c1ab7b-a938-4c33-b8a2-2df1e20f4441 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e59d120d-958d-4852-8b8d-fe11eb0c124c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0a76dadb-02ec-4bb5-b4d6-4e08ff0a01e8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c3beb209-1af7-4ed1-a12a-6b108717b744 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:816d7c69-cf20-434d-99f3-96babdc931e3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:10ea00fc-54a4-4a58-a7e6-a9c4791ffcb8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2efdd2df-7c71-4a29-933f-3b58bd781c82 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29d30891-2ecc-4d8d-8397-fcbd09824cd9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d01a6829-fe07-40da-8748-fd09e1c57745 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1afe258d-26d9-460b-92ba-f0b22caa8749 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bbeccc5b-bda3-47cd-a332-0750f35a4788 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:259f203e-e0e8-400d-b789-959ec9bb03f8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:055eded2-06d4-4549-88e4-8e956e55be7e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33466f21-4e01-42e0-a21d-566b1a1fdaf1 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:45c6fe48-7ff5-49cf-93a8-607fe7d73ac6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:70a3cf01-1480-43bf-ac8c-93707f8ad008 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3b2d3e56-9266-4f93-895f-1a051cc92df4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64f4490a-359a-48bc-bb07-5aa757ab7a84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db88803f-ec21-4bad-82e0-f2208a7b725c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfe98bc8-317e-42fb-be0d-92c165e1b479 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3152e37-721d-4284-a071-62cacae5fcfd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be008d3a-81a4-4bd5-8fab-00188cc675ef phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8d51aaf-00d2-482d-b0a9-12ad434ec497 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ee4fbc5-a898-4758-9f5b-d5f22d1fed48 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc145251-5126-47b4-899c-37800ef15d75 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c25fddf4-95bd-4d98-8bde-c800e542e51e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc251d01-2cc3-4e06-b09d-136bea97f891 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:320dc037-7060-4199-8505-1faf4157ac26 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:724cb9f8-1eb5-4160-b229-af33f76adf3d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b831d08f-32a5-421c-82ec-e038841efe1f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db035eba-2ae4-4482-9659-ea7d5a3a5e12 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a40dd2c-60d5-443c-880e-5a2518eb812a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95484f61-125c-4fef-b32b-106d98d4706f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e938c63f-00c3-4453-965a-cb752e5e1730 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:766ba84d-f013-41f5-9871-fb542bec9206 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb7ab60b-85cc-48f7-b735-41b304b4140f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82f16b3f-b6bf-4af7-a37a-d194b8f71401 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8822828c-de74-4448-98b8-5f0cb938de0d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80afdf60-4202-4308-9edf-de242f01fb9f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8b31a94-7857-4e33-a6b0-9708d55eb200 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:858e47ba-b83e-4e08-b685-b32404e0cf25 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:640e15c0-67cd-461f-a4af-395f1185c5b4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:634824d7-1206-469e-89da-a68a482815ff phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b40f03de-5f6e-453d-aa1a-59242bfff6ee phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ba4197c-70a6-4013-b93c-b192cdda9967 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b2db605d-1e87-430e-baad-a5d52becae06 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a37f921e-97db-47c4-a93a-9a97acb08bea phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ee7c2eef-b2e2-4d6a-92b0-f1b08b489649 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:36e3badd-6da7-4aa0-a9c1-c5efab8ebac4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c8083434-9086-4f8c-9e9f-8241664c2869 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1aa0975b-72c3-4301-b592-0a1cb3f8c5a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:be98d5f3-ed4a-4073-8602-f82cb42c3ea1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d42ad4bf-0de1-4fd5-879d-c080bb227f65 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:960fe10a-5035-4d3d-9fd0-25cc19bfaa2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dabaa0bb-e99d-42fe-a0cd-1d79586a4e08 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6f47cabd-1107-430d-b9e4-a3490c2c6c9b phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2ded45b7-dc41-48c8-a407-5b6e89a7a7d2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c1efb666-f781-48cc-98c4-4282b3408b8a phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:deb53d49-107c-44fb-b43f-bf23a6981a28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f25a4bf-6aef-44c4-90dd-3a6f6ef89cb6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e488bdd1-a5d0-4cd0-adde-bd75213dc1b8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a9ba665-373b-4338-84f4-8df0a36126e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6667cd07-21dc-41a0-bf1c-d1e7cc6c6a8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f063c755-eacb-4c55-9ae1-49de62d12f0d phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:80ee8162-6045-4d9f-af1c-1b4a674c4aec phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfc9a7a9-5319-4de7-a434-35135d0d7da3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e83fe3e5-89d3-465c-8a95-06117e8084ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a92cc05c-1070-49a2-8bd5-0c98eee2ae3c phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9efc4f62-eae7-4817-a9ff-54ccee519d72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a557a0a0-b40d-4fff-9966-9fd99c2a42a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc0ca1a5-21cf-4245-add7-d4cb6419dfd5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a342733-4457-40e4-b360-7c4fc860dc1e phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f8a489e-a56b-44ba-81f9-7af1dded867f phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d96258be-b8b1-4b8c-8b32-5420cdf08231 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0ff3a56-c9aa-4dd3-93c8-bed7e4181f21 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a425531b-53fc-4245-9c5e-e93c3e9932d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f9aa45c3-905e-45ba-ae96-804ec3d7712d phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ccfec53-9145-4ccc-9cc5-47d082e69290 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84224b0f-ce4f-40b6-85ae-62964b3ab7b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d380a27-7159-43d9-a13f-c90cb6b6e8a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7974524f-f6ed-430a-9323-2cb6476fa888 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2b534d50-db37-4c06-bf93-74f0e61a00ed phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c61b9dbb-13ae-4b82-980e-d11ede31e08c phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e55ed5cb-14e7-4a1e-9251-ca4f4a251edf phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fc20dca6-da19-48dd-960d-ee98f7b427c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6017a34b-cccb-4900-9999-88eecf4f2a4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e976b44-dd96-408d-b4c8-5feb685fd581 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d76afcee-d822-4acd-8b8c-41f103ce1425 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd2bb730-1d05-4dc5-a3f7-c3b250740eb6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0de62bff-570a-4bb2-ad4c-8ddc3a344f9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c862fc40-f276-4a58-8a0a-03cbc05fcb62 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:932bbb1f-cc6e-4ac6-91af-21c3494b3f6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8bb70c69-1671-45cc-9e41-ada2ffe73c09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de26334e-7c0e-4927-a843-a1f665c06b74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c50b5e79-e883-493b-b213-3f592e0de595 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:20b85590-2d80-4aa3-bef8-5537f28a04be phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fcfd31b-9719-45a5-8637-9a9558f77074 phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:2f22927a-2a8a-47e6-ac0c-1b7b3f84236e phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:20c6e252-ac24-434a-9c39-b04b347e6e43 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dbaeb1c8-3061-4c16-b242-f9cb618d1889 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:157b0e70-80e2-4bee-b6c2-c0951a0c289c phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:46cfc410-65c7-4558-bbbb-6b3e07e9afbd phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9699dad7-f1d9-4e16-a21f-de6ed47324f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:61d0a95b-d118-49a2-83da-85ded2cebb11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b237060e-34ac-458c-9672-66ecfa957229 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52f2090e-8ae8-4472-8856-b8945b0f7405 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d28adaf-d54c-4ec6-bf98-1ab38e290a5c phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5154d3c8-6b9e-4937-9eaf-af5a82dd7f6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27b1c118-8436-4ddc-8f80-03972b3e1309 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f167a900-ef4a-4be7-8940-e1ea7f128f05 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d34260e8-879a-4b57-90ee-67591cf35903 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b7e89a5-8122-475a-9c75-c1d65ed61857 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c6a5d0ad-9d9b-413e-89e9-4ab728bb30f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a0f3287-a529-41b8-a494-73dec6c9603d phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01ca04fd-43dc-47aa-8974-cfb80acdd7a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b821f54-aa17-47a8-9393-04c75513d1eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08ace403-d333-43ae-ba85-bd11b38b8672 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e63f630-1d34-43a7-9aeb-6caac009ee90 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:680452db-da05-4b72-a8cc-5ab41e65ab32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e510d16-dfb3-4508-8ff9-e2da1c9c2f6d phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4a5a1b5-bfe6-46bb-9dff-787e534e2bc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a6c7fcaf-13a7-4f13-8b49-008b185b8a4a phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5b853601-65db-48ba-9104-27dc1102731d phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2734378d-c508-4e30-b878-27b566a7b17b phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6430e4f6-239f-4be0-9e26-db4a3bf1d3a3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc4c3edb-f7ff-4017-a96f-278f01d2b4ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5c76660-c9e3-42ca-a747-a88ed50339ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:c8e8d54a-7662-48de-bf07-761e32328ce0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bed68d2f-85b2-46e3-a6f9-f3944b6c137b phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:39c7eeb3-fb09-414e-98ad-153e47a07cc5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:be9c42a8-626a-4b20-b15f-94c440d8e2a2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6a7368aa-7afd-45fb-ad79-f9a5c8c69c39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ab9b7139-0c6c-4c61-bba9-a751a0fc0b49 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b73c17d1-2012-4176-ada4-6da8b84c5b4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e471b94a-a0e8-41fb-b60f-773202f29aa4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a9c63ced-96bc-4df8-8d16-c4d0f9f3d9e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b914df58-ad5f-46e7-93fc-3523e4679c89 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b01ed7ef-798a-430b-bbd7-e21ce1da4331 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7e59da89-c528-46c1-9fa0-45efc097dace phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62768c27-2959-4b99-95bf-9a8d2b3b0010 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eccaa20e-ce54-4291-9dae-b45abc1145b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5cbf2991-e2a8-46fc-8ad3-e47ff96f2f6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96fc2293-5acb-46e2-90b5-fcd23b3b02f8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e143a43c-8446-4e17-8624-84054c11dea4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a25a8ee-0cb8-4199-ae9d-4de3d1245365 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6e660207-bf31-4a1b-9a57-c19130a756f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59a7de98-9bad-4efe-8a37-e23ba70708e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32087258-a076-4975-9f46-68f4126324ba phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d69ab79e-64ab-44ab-b4b7-f1ca54750c96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d808c668-01a6-42c3-af30-e2f6dae9cbd1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:18799974-76eb-4d79-a7b6-31ca9972b937 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec6150bc-9a70-4a6a-a928-214e528769da phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e6ea49cc-739d-4ff6-9d64-b7fa070fc46c phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce1acb89-89ff-4950-8403-b76b56c27c52 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e04bd2f8-841a-4007-b707-b2437fad6361 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:693b1bf4-5e78-499c-a577-92458bde1710 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f7cc4e24-6e27-420a-a7eb-9b3a252ef35f phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de6d747c-913f-4bb6-a5fb-17bf9993d3f7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e786e2b0-277a-40f3-8ff3-43db72b5a4d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8af73139-01c3-4462-b754-c497c019bcc9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1439d996-a03c-4449-9411-50b8009352e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca91399e-4a83-4a8f-aeb5-2ce0725419aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c0c29a45-8bf0-4e3c-afb4-1d5290f8c45d phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff799691-33f5-4641-bc6b-7a79f359f431 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c6fe3ed-b5b0-4666-8f0e-6857241c67eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39ab85e5-2adf-4da8-b3f1-9c58b9fe51c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a4af11f3-0ac3-43cb-9232-462122936124 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2eb3f2c2-74a9-459b-a01b-f0921f766409 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca05069e-ec47-4072-8750-1bb73e5e7c57 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75a78cb3-e088-4b86-805f-25aeeb94d843 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0edf6cf1-50de-40fd-9968-d806579dd87e phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8638b351-1d01-4c30-be97-03e975cdfd2b phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93c86a3a-5071-408f-9514-2c1b4339572e phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e913eea4-88e8-4fa0-9d4b-7ff1355411e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5034c4ca-41f8-4449-81bb-df93b55da2da phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:36a9def6-7afa-4f3a-b095-c936cd4b2798 phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:58370d05-0663-4e17-9efa-6379c2533ea0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:176866bd-3b62-48ea-b6f4-c33789c08d65 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7319dc52-0724-4361-ab97-ee5b00ae2cf0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c5f3a9d4-29a7-452f-93b7-11c75fb58272 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:32e62aa1-2034-429d-a6da-0ef3dc15379a phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f6c5fba5-f6ad-432d-b8a3-ac5f29849389 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a59265a1-9b3e-4ed8-a1b3-284fdc7c5fe7 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a4cf0394-4bc9-4cb1-8ea0-9d58c1f311e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4892e65f-469d-494b-ad2a-3bf88dba8c26 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6e1edfe6-4f4e-49b1-a76f-670ab2ef3170 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf0b1d6c-9e12-496f-87cd-fa5381014769 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d4a0fb7-6a9e-4888-a4b7-5270f30e45b9 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08dcde90-bc32-4538-b3e3-7d71103dbf01 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7176a6b-def7-44de-a726-5d570c8cd9f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:730a488c-b6f9-47ef-87cd-bd7dd3b8dc17 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4acbc7db-7473-47c7-8da8-02bd9870fcc1 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36e007b6-ce58-4d70-a8c8-04d738ca8b62 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8439294-f427-4e22-a617-9c74aa5c2c22 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c7d2433-f974-4aa1-961d-5de35d5a04f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8132656-01f4-4dc3-8d3e-395061edae9b phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc892fa5-93c9-48ff-ae18-c3f863591f5b phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43a6142d-2f95-4d90-9115-d7a81570d502 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b29c8c57-b60c-44ae-9a1d-a473239c761c phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f42443c5-c41c-41eb-b20a-14846a1ab4c3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60061d46-1c3f-41bd-b1e3-0b46c6c5f90d phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e9bb907-2dd5-4c30-a6e0-229e5614ea37 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ec57260-eb60-4c1e-9f68-ac80bc9f8733 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf6a243b-783a-41b9-a836-f2be8e360aea phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c42efa79-6ad7-4b46-8f03-4d00993a1831 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4785b62e-b603-4727-a107-48f8a92bccff phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbf58710-db18-4063-ab4a-74f652db6df2 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:33d9649d-a803-421f-bf35-ddbc28a7cbcf phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:43fe149f-589f-4345-9234-f7270ca66e7d phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:15d7ab82-2a1e-4d0b-86bf-1331f0ede566 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f9fd53d-0959-4701-8aa1-b6849bc42b6d phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f2f1bbb-764a-48d8-8807-f1ca3e193191 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd1776f1-45cf-471b-a255-6b236487b8ff phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78c9ed29-d50a-4ff4-a810-d33dd4ec7c38 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a015c9e-c7f8-43c0-ade5-29fc75157bb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa24d071-e3f5-4a5a-b7be-ff72226fc7a0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49dbe121-d9a2-4c1c-9dd3-f5989c08b580 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4676bee2-078e-4f45-a2bf-4bde1d974cbe phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0aa3938e-b528-43f7-bd19-885488f5a310 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0862e1a1-f74f-4d1c-a4a1-6189aae6614f phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d133712-3e86-4868-bf13-8b2791897589 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:743d832d-0bc1-477d-bb3d-de73fbeda472 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aeff1499-3d83-4d72-bd43-a5936222f69f phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ec177f4-45bd-4da5-ae32-a0e459f56cb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:258ff8c4-a573-4cce-8bd3-1af0a20979b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19128b85-f6ca-4758-a3c7-12c849e0a10f phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8093fb8-51c5-4fa8-8450-95c8eb32a40c phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7a023fa-4ea1-4a02-987a-23c743544ca0 phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:3ba8eac7-5598-446a-90fd-e3d290e2fabd phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:78d1179c-a323-4cf8-8d08-ea1488473796 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9bd54e77-71d2-436d-ac3e-8a8e17075032 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:26458d62-5f23-4f9e-bd2a-f7da3a07fb94 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9753b54c-2a8c-48e8-b496-d98e2ba6d449 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d37bd548-8bcd-4788-a577-57b1a0611ce6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dbc95f55-1bfc-4292-9d69-016c02bca8a1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f94df856-b45b-4b4c-a63b-9541264788c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b3d67a0b-4b90-4779-a5c3-7ff5b53b5755 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:95642b76-328b-43dc-b846-f3681732548e phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f3119f48-7498-495a-a488-f42b7a93c862 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c838c9cb-6036-40ff-9f03-69e29fa6f308 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01099aea-0115-4ac7-aaee-cb6b082a61d3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a3ec8cf-33a5-4069-aa50-25b135e0607e phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:559c49fc-ba10-44a6-8569-6dfab58d7a2d phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c2d0d9f-bea5-4b66-80ba-907de0fc1745 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6853c641-55a3-4092-84cf-1aa630d4e9ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4d03a53-86c5-4a6d-a621-f6986a2a14eb phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fac3727f-e561-496f-8aa5-da25b1f8a5c9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f422c1f-b80c-4d75-8233-2557da1c3a39 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6f33e8c-a258-407b-8dd2-f04ac2bff86b phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec8f3989-20ff-4d35-8e01-b371ddf95a72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d32c545-87c0-4e82-a8c5-41448737e3c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91f497a2-c247-4e89-be51-2e49c8505967 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f4dc43b-c1a7-4290-a4c6-e102280f6d81 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e153091-fe68-4917-a42c-5e480a30c805 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f4d2453-0663-460f-a888-6e9d251f4569 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83abc4bb-d0a5-46ab-913d-1976d00e693f phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c5b4dab-bf73-439d-be5d-aff3b1a7d473 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4deabe58-0c45-431c-91f4-51617eeb6c53 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a24a1d2d-7c19-4211-b827-19c85ee37b5e phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc7cb1f1-f5dc-433e-a732-4fcd2fd2fa64 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6faffb56-0964-4c54-af1f-31e246df5bc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f6b9e28d-e44c-40f7-8cec-c83c311e76bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61c7a7ec-61f8-42db-af03-8942c23ff8aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9a8d1392-6fe0-4971-8ee1-18bd2a47ad0d phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fda0dd68-e1e9-4189-875d-62f18893d9dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8bb7af7-5a43-4823-9bc7-f00700cb3876 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:501f79d0-5695-4220-9170-b9411c1e357f phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1074009f-fbd9-4036-9ecf-210a33971630 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfd3a3d1-8c72-4fcd-b189-1a46b475e016 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73773931-3c6c-4473-9e39-a84debdfee86 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c90b0afa-2ce3-490a-aa2c-24e2e96ec9f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:15670191-bea1-4aec-99fe-dddf2b458694 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:653be8fc-4e83-4d17-b680-2209e5619d24 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a61ab06-8636-4fba-b50a-8270462739c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:64772d71-42fc-4009-b2e4-81eca3d1e1e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54df9327-2609-411e-8083-00e72c60ed1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f313d874-2d4b-4ea6-9e1b-1bf87ba65f38 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f20ee37f-9a56-43f1-8bbd-573d8935aee4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bfa8de91-85a3-4fd4-9ac1-d235314a6cc9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41ea6a05-e84f-44a9-8bce-ff6fd592e2a8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9c45bb3-25bd-4b93-b2d6-59fdcc2fc69a phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:93520e16-6048-4313-9224-bc327213be1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:fe815ffd-0cf9-4e7f-9482-ac82c772e2bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c0f6d189-87f8-4fb2-b4cc-52ca762f8e06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9fd77bff-6360-4c2b-b3c9-ca4dea287285 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8c662d56-0137-4ab0-ace9-37bf6265fa32 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f1a01632-cfa8-4a8b-a2ce-90f18049c4b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c84676be-7886-4d86-bb76-249cabc57e54 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c965bb37-6b58-4d55-b6f5-8ae212256698 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:84aa3e2f-1a7d-4aa7-bbb5-9e40c1a5825d phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2b6928b8-6a2d-4122-93e3-156d556001ce phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:cff0356c-061b-450c-a52a-2fb5d69279ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f6c882f-6056-4ea1-829a-b3c6da32a320 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1d00c70-1a47-4664-a30b-e2b1e6e4a01d phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:388752be-e223-4c0b-9223-836700999d96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3815da3-460c-4308-9719-854557e5fe8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8fef04ed-5865-4103-9b48-4a6dbd1d9cf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4f65435f-ab8c-401b-acb3-952a0375a14e phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d15157f-4d6b-45b8-a449-e95089fd7ed7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9d8ff02c-2ee1-45b8-80e8-12b6def829b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7459924d-da33-41f4-bb16-94585297f4dd phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56d4a394-7ce2-4d0f-b4c4-9cc080466063 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d349974c-9fc8-4cf8-a7da-cbcac87f072d phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:866ffec6-b241-4f85-8535-5601cae031fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83b887b3-8969-49d5-b9be-cba675dbba6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a03cb82e-8c74-40d1-b7ce-e8d15482a4e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cdbbd9c0-dd2d-4bbf-9cae-01219fa5ecc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71636190-e3d4-44d5-ae30-b1f89c1481a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7aa93373-9f29-4b2d-a079-78addf7fe26c phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cbaea18d-4e11-42e3-8f01-e968060c82e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52a1e360-2c4b-45e8-82e6-320fcc8e389b phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a96c8c56-d6d7-4a92-b281-a9e1060c895c phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:734a1b0c-134e-493b-88d9-49f958249d2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e107734b-f8b0-4574-ac10-14d3a24a45d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6196aa0c-9b09-4c5f-b338-bc612c75d4b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:15a9a4d9-55cc-493f-b7f7-1571ed5ab39f phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f21e85de-c53d-4ae2-972d-9afc34196ed1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f17f91bb-a9f1-4a62-97a6-55b02bc9dfb6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:90ead65f-08e1-439b-a0ad-e9098226e646 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c59a454-a724-4086-b036-b126765d4014 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b521f933-82c6-4e41-a5f0-c0f676564f76 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f8cf861-5935-45a8-9466-55e89d1216be phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a5ffe1a-fc10-4220-8ec2-c8c1d1a30fa4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6b6d8107-38c4-46d9-8560-65d2b654f819 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4d1e06e-ab36-4e3a-b360-4b2b8edbd1de phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d9d2242b-162b-4a18-ac04-306e290fcae4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59cd4fd4-cc28-49ab-9164-ee1051645935 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5ea2c9c-6475-4174-b2c4-778e84be2f69 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84c9009b-4906-4ab4-acc1-c70386a21cd8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47e92a35-0680-4e34-a0ce-ab41579d8bd7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6961c523-f4e5-4d8e-bfa2-c0c1cd6e76f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6909a356-4d09-4697-a854-3f5268112aa1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bad27860-4f3c-436e-a621-8eeafccd71e4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bcd2368-fc1a-4fc7-aa84-5368a1f843c4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:927bc3d1-5e19-429f-a1e7-eb68dc6f118d phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7c45d179-de17-4a0f-8f9a-79cb6be13ff0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b9d0d82f-0931-483c-ab6e-0545adfa1977 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:04bc805c-8669-487b-a854-8f4c60fcc2d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2b57cffa-6dfd-4e1b-bdab-d2529c0183be phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:23f37ac1-b84a-4127-84d3-9944ffca20cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b8daffb9-f73d-4d29-a401-4fbcf75f5dc9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a09c09e9-2122-490c-bb10-4f1b61b7b18f phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:df3fffaa-71b9-490c-9d39-cef43cc8fb09 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:21219708-f1e3-4d40-8097-6adf446a797d phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2da8ead0-d036-4869-9ff7-2cd1cbd3a28f phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6ebdaf81-b3e1-44bb-ae03-8693940c5d2f phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ccf456be-732a-4958-a47d-0bf8a0673e98 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d7c7d1e2-9f71-4cfe-a0cd-7b85829de5d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:505c81ac-ad44-41ad-935d-a0fabd8d70d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:615b89d6-8fb7-40c1-b0fc-79b8abc4da9e phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6c18a98-6dd2-496c-ac18-204805a89b6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19b43ddd-9310-4e28-aa34-330f2bbc9783 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:663c2caa-c058-4f91-aa25-0478aba0caf4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4b5fe4d-50fe-429f-aea6-79916c45f095 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82f90952-4cea-4442-aa64-bb2bc4d53df0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d5e06d94-328a-44d1-841b-dec4e74bd660 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:249b683b-43a7-489a-b218-b1c979f4e7e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:72c173c2-7ca6-4a02-b90c-b0c3ea48e4e8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d57b6646-fb3c-4ebb-adad-0eb73a506253 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8d6c182-bc10-4049-b325-cba49b81b68a phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2487f2ab-e2f8-4803-b9ef-60f86c934180 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca343692-1356-469b-a8d2-ccb86e7af5f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b08318bb-64ed-4556-aa33-8b4ed444b8ea phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa44753e-c59f-41e5-b1c2-8553e51cdf73 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a103a03-6169-459d-aa23-ea709af91d71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5bf34516-508b-45eb-b17f-0861401d8454 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e605b25c-a551-4087-bf20-f105653bb97b phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e56b7f3-a292-436a-9035-7ded4f5a48e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:648afe56-c89e-46c7-a80a-325716ea4046 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87f34332-82c7-4999-888f-a35228b5065b phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9243c034-0b37-4732-9c92-2421c6b7f634 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efaa33a0-efb4-4adf-9c0d-aa0f2e67f96e phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41f116c1-e887-4c3c-8e45-fb03432141f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5a54d0d1-83cb-4f99-8996-01d72f6432ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6256209f-4fee-4d8b-af77-40894e627ade phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:34b78cef-eaf8-495c-abf6-29f3c0b53e33 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bff5d50-8e5b-46fc-950e-b2352e1471b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d77d4efb-4b30-4dc0-86d1-d107372d07f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0de4eb2b-8a37-4ecb-a3cd-3c442be34b86 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d506646-85ff-4d2f-bad1-f85abc0d61e2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7fd523cf-371f-4d2f-9fd9-fe1eb5edf759 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bcc500fb-72eb-42ac-a424-ca59202908e9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:525e4c86-2080-47f4-8863-6a19aae152c4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f542932a-129d-4b80-9e50-3f9f22d63898 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8ba4610f-0cb6-476c-b045-9d7a729416d7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5054f006-506d-4139-abef-c1e488838b4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7b558300-573a-4762-bd08-7a7d0d8fc33c phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6fdc9c32-0f0a-4a22-b89e-b62815a12130 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cc9fa9b-deca-487c-b69a-f0a22eaad9a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bff68f3b-4c26-4512-a8dc-f0a19d7fc219 phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a4a12b10-5be1-47a8-8a7c-eda928ec7a8d phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:fcf8035f-4de5-4124-bdb0-61309ba78686 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:68145a51-c60b-4809-8aa0-1e52920d8e8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:efa796af-e8ef-4aff-a1f6-d83b0cd83fa2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3e6677a7-fc0c-4625-81d9-1b524e39853a phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ff05b4e3-c0ee-405d-bf4b-9f4285c7b871 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:97d60d52-e5dd-4563-a04f-bf73b5ac853b phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:5cef8407-c31a-4316-92c0-2abbe70ef0e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:133e7112-c356-47b9-9443-687fdd57a55b phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1c1a1ac2-86a6-47f0-b7dc-5b1cafe1acbe phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4ef28c87-3a01-46f1-993d-febec3c83bad phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f4cd97bc-0030-4e85-a15d-1148e8d69888 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7aaaa849-6a54-48c6-9e46-c5a887690de0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:df0046b6-3347-449b-b3c5-0d903c866938 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c4f8a06e-e0a9-456a-ac80-90b1de71219f phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f60919ee-b8da-4086-b12b-2ced16509a28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba71ea57-163f-461f-b915-332cd8093d1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6aaf1cce-53ef-41f4-bea6-e81a0cda3994 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e2ee453f-5121-4c9b-ae25-81432829eb6f phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95f43552-4180-4299-b6fa-cd63bf7026ff phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4017863c-b59c-4545-853f-1d90331b65a7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:057bea6d-e0b0-4448-8198-cc728545c4cf phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:89ea01d2-6d76-4f03-b913-5280f2841c07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b03cfdea-6a8f-40e6-8fc6-301654670d14 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:164e1ecc-8c15-4a9f-b7d7-5f25540c6b03 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b01a1bfd-f915-43d0-b5a8-05298bcc06fc phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:73f1310f-d483-46b3-b49b-e2292b4e3adc phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7e0561a1-8e55-437e-924b-ce5a7d6f8078 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:894f65e3-a9d2-44d6-a7a7-24b6315f9f74 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:314b41fa-4089-49b7-acfa-6252a8fbd06e phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2bc40f9-07fb-465c-b823-e9d5b004811c phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:479e8d51-e5a0-4470-8e80-8b5914ba05c2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a0012ff5-b349-46af-94ff-71a1b41f4b3d phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8866b7f3-0724-4575-98f2-60eb20589408 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f227abec-a03f-432f-a569-f638a2368af5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3d69ffa-1949-4810-afb7-a8962da83495 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5183a13c-c5f1-49ab-b010-1dd00add7973 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e4cd2232-8464-4bd9-8e7a-6b3626afd464 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e068286-241d-49c4-b153-6add08a57a51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0039e3c4-6cef-44cc-8e14-035c975adaa0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bef2dc97-e262-473b-9d6c-8feb165239b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:180d11c1-c9af-43f2-8bbe-2f4a99cb6d98 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:169369a5-a5b7-4a55-b7a0-d446d2213853 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:879fd8c2-1e69-4275-a169-d0157002e0df phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67e8567b-69c2-449c-a8ed-4cc4738b7fe9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5176e5ea-4dfe-45bd-afa9-2ef9f86bd8b1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d214e9d6-200c-4357-bef5-a0f42198a71d phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ebd19cfd-1486-4da4-bd0a-a6ec710114c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:433d11fd-525f-4a76-8333-e12d03e94223 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e29a6a64-330c-43c3-be1e-59db4107859b phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3bf229a0-678b-44f8-99ad-97f4b363e8aa phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0158973e-1226-45e1-96fe-aac6bc2f910f phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d4bafe1-5e6d-45b1-9593-9bf6ea0d1049 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d62f94a-0c1c-4a33-a7c6-a3c24b7d0009 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c762165-c756-43a2-bb94-d43e2c667334 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a53336e7-383e-435f-a43f-d24f042ab875 phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:eb87d5e7-2b46-4aa6-89a0-47ac697868f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:16ad29b0-dd39-467f-a7a3-314a256daab8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:176b1a95-675e-4b4c-9d2f-bbc76c60b7a5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2448769b-cee7-4ee9-849e-25751808fdd0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b64960eb-1694-4579-8339-3830630bccc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9b2c9154-8980-4644-9829-8cd7d9053094 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e0909d80-d40a-4930-9756-21c1c7c1bbc1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:856f68cb-9bdd-447b-81bf-1fe443e677cb phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a47bc0ce-908a-4684-b6bc-4b9eb1af0db0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c43c564c-459a-451d-9a89-7836e2dddb12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4cb3210d-808e-4cfc-981e-9fe0d6d369ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4b5324a3-a696-4249-ab78-e326eab7aed8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a7167e2-5038-475f-910b-a6f3b1bbc97a phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:949db922-c524-4a1a-a3f2-a79a07f99716 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3467994c-3de1-4fc1-9535-b83e5bbb090a phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5501230b-b901-4322-8af8-d2ac973e7ad1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d691547d-4e6a-45b9-bd6c-0166fa58a158 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:228b9fe8-030f-41a3-b1fe-98c281f4f557 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:839b3138-1655-42d9-b571-7fadef5ca784 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c00f960-c895-464e-9174-9ec020e2e94c phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:977c7e4d-d696-461b-a246-97ace8155cbc phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:179d30f7-88b5-4e54-97a0-6429f9bc6ad0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ede37507-c37e-433f-ab06-e56a8584e016 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c986844-fa84-4ac1-bb35-3b51cf984eb0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e64d5be-5ba1-40b6-8891-7eb061f9f6be phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce4d7bd7-1845-46ec-aab9-2e423595938c phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:152f66a6-188a-4070-b0b3-80a5e002efea phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:58d744ad-fddd-45af-a699-2ab2d799ad12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f323bbb-100b-42a1-87b4-def572bc6b6e phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61844cf5-b05f-456b-b6b2-da17f89f588c phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2152e610-5d00-44e7-9531-64bef00858d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d49c5fe-920b-4db2-a4a7-43796b04a2e1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95a4d305-38fe-4595-8b3c-5bca8b2d0fb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec282576-361d-4607-835c-a1dac8f708b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f80a581-afa8-41ea-a549-01f38e4e1741 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:036edbfb-c985-4ecb-9d94-9b00939c4ab7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f214f0e9-ef44-42e6-b46e-8d38e1d60a30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:305a14b8-e932-4e56-9d78-ddcd21f1c960 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:63af8860-df71-4f14-b8bc-47a84b533834 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71abe12a-6537-43a0-ba6f-1115886c6a27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a2fa5290-fc9c-4981-ad36-9ab141056be6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6f1145a0-ad76-4962-950b-914968296f71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c0fae317-8871-48a1-a991-cd9f4a1c38c1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27bf3ba9-7847-4128-831a-cd717bb908be phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:adac8246-f073-4144-9e7b-85647b00f77f phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:be50caf3-7a1d-441d-9ab8-2e68f932988c phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d101e051-1787-4d8c-8956-f98e3cf09805 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ecfca64-6580-4a12-a2db-1f17193a1647 phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:090e5864-3210-4f72-9218-4b41c381413c phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:74357e19-0d08-4c08-8ea0-25e2497215ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:aa0fdd32-0e24-403d-a4e3-7440f0abeb9c phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bf1e25d0-eae9-4fd9-99d9-55334d193bdc phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:866e3ddc-feb8-4e12-a355-76c4d36e8351 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:936c854a-1f9f-49cf-8331-6e910dcc2a1d phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9a2bcb8b-8df3-46fc-b0d8-c044dc95c82d phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c5568095-f5ae-4186-b983-5baf35bb24b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f5d0c2a5-4cf0-4502-8ca0-f32c06070a2a phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:477cb08a-218c-4d91-9dab-c36f248fdccd phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e24d4fa4-3213-40b9-9209-a45e6d9f8571 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6601f1ce-8b1b-4a07-ba19-dbbe3e4c0dd6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:65ac9406-2d4f-4f1d-979f-ae365c9d1871 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b1267400-13ce-4287-b108-5fe2e918df72 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2c531552-27bc-42cf-8f1c-b678e6131cf5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:da43b951-5136-4671-bd02-5ff0510e483c phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4466b52-7a7e-43ea-a8f1-2b5a7474d8c5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e7731401-3f17-40a2-bb2d-d4093bd288bb phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f7e20e6-03a2-4d0a-9c1a-630396cb272c phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40dd6dd6-3e0d-492b-ae60-69fbd5ace166 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5405b8ce-f2f3-4a9a-98e2-c305e2202287 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8841c19-ebbe-4384-81af-0ff69ba69a8f phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:679a49b7-a8f0-43c0-8067-564b317a6544 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df4613a0-1c3a-4bd0-b806-1ea06182360a phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e0be4d7-1164-4f07-91ac-6977c8055a4e phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:661d7c10-3761-4778-81c2-8aca1b2c67db phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b685f766-4011-4105-80ac-7eabca0a447e phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:865619f5-7a1a-495a-aa29-9a31e120444b phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ab4293a-df3f-4134-ba83-eb6b66246243 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7196bba5-c6fb-4095-833a-f05e8e7f9841 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa43efea-b8e7-446f-b28c-b4aa655cd99e phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e690270e-e529-4fec-914e-1f328adab1b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1c1de48-a9e6-45f7-a63e-50307e230ccc phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:876b8215-f47c-4a40-874f-43e8f1e6a4fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c6341845-c8e4-4225-afe0-1480dff8ebea phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f5bf2b5-5007-46b8-a5ed-70662eea4647 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32a47479-bd3d-4a07-902a-4cef85be7a29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afa07bda-5b61-4b41-b42b-0d7552695292 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d766d9a-cd5b-4a6f-a6d3-980d75b928f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0dec2207-7e02-41e1-8f6f-0c2bc226027c phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4372ec02-892e-4d92-a01e-c797e1f6e919 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:929b2ce0-60c4-4514-8802-99a8a69649e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3d28964-224e-467c-83a8-24614146dbd4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:130e8a22-135a-4df0-8bb7-5c269af6ccfb phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7446e3be-71b2-47ee-a5ae-95ab9bd307e3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab7bab8d-5bfa-48ea-9ccf-0a730326ec12 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69b3954c-af55-40a5-ab14-ba697308a181 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf439caf-f5ab-4048-91a7-011798994181 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:77dd0603-b739-48d6-b651-3c886216aef3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b062090-b9e4-4854-8a1b-e1b107e72d5f phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:54d7a177-5667-4c8c-b368-8b0c7e6725ee phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0c5f97e0-c3a1-4d26-826b-2888be5dd632 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36b3ca67-7837-4af9-9aa0-0436795f5c36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a5218a96-746f-404c-8455-f9c14ee51178 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:71493787-d000-4c39-8af4-f7cf5d7b7b06 phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:bbe33006-213a-4812-8b08-b9f7b0b1f939 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7acde44d-4c8f-4745-b770-048e70866d28 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d62d298b-3c06-4b12-9b22-2dfdcddc9c85 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b8581508-ae79-4781-af1d-ef948676cfbc phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:87d1f6c7-64b6-4a00-8de1-4568b66add25 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:16e4e787-98ce-4966-95b2-7152e1cacf66 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a60dc942-7a66-468d-b099-583a8a183357 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ad864ff6-8e29-491c-a01b-e07f7db86b44 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:552ed34f-a01b-40e1-a9d4-1faaa6ee8498 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61324188-d865-4ceb-b258-92b25addbe18 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:296a02f0-8c68-4916-b2af-8d4d79db1e70 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0e45bf80-e78d-49bd-9a00-61e8e204ed95 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5fb7097e-1b06-460d-a813-88aee10db536 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6a5d8e74-c4d8-4f9b-b700-c913395555b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba69b724-0606-4fed-8780-306624e07fd7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a8e14202-d2c5-445d-b295-790f85eddd11 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:652e2236-3936-45e9-86ef-b466892ab587 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:457ea0e3-b1e5-4843-8de5-146c9f649be5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b9b65a1-09af-4ca4-96e9-563aa756c931 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6993bd3e-8257-428d-9da0-46cfb4b355b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f765761-085e-4814-83a2-9516cccfd43d phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cec026e8-9260-4695-a3f6-d83b10b245f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a09b4d1c-ea2f-4b65-8a61-d056c3eb8ce9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2c8c7f8b-8624-4fb8-9fc8-99a10440c5b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a96ede5-b278-4161-a13f-4ad0a06396c7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db5ccb3e-19e0-4b94-8068-7c416825babc phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0ef8645-6a45-49db-8bc5-c3299b0da50a phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5e1f890-3240-4945-a351-b517558eb5bc phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3d2e3c63-e35e-45a4-b0c9-db90a1e74d4c phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:383caa4b-cfd6-470d-a291-93887817a096 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a206c1ab-36f5-4c82-9f9d-b4d797d6c3a6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:88412ea2-4fb3-4524-bfe8-35ea264b6a07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b22237e-4847-49d8-84c7-9b96e032ce83 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff0e5740-eead-4a64-9cd7-b5c16b94220f phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dd9989da-c920-451f-827f-3ebd47b79124 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bb062780-a4b8-4f9e-add6-6ac09e42e464 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:828d0940-1655-4cb4-b5d1-8e0a0540baad phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0dfea10c-4106-4b20-9e12-0ac461fdae19 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:04de92c4-3260-40e8-b50e-08b64c32288c phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0be52cf-e00a-480a-b443-09563f8a2a07 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:67f045d2-de8a-456c-9463-98a152f56abb phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1fcf83df-00b0-4ba2-8b66-e9112334a963 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ca4871b4-c871-41b6-9e3c-d742e9d18813 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e459e9ce-cb98-4d81-a0ce-6fa9389007e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:791fc30c-b3a3-410f-9624-f4f3a2814e36 phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:6e8ba231-79e7-470a-8a6b-6b9b10ff6e31 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8db98a99-ab6b-4481-8a81-54f70151f04b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bfdd8072-11ff-4ade-a850-e683e6ac6095 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:52df8ea7-9ea1-4667-ad20-a4661af337e8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a8186567-d925-4f43-a162-d7eca55b6381 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8a8d42dd-6a21-4446-a263-8660abda7f2d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8ea15fc3-43ee-40ca-becf-2ff49f0d6c77 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6052b442-8bbd-4ef2-9d1d-e5b956fd1d00 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4a7ed28d-7525-4388-8aae-74aa13915c2a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c92ed77-8077-47b2-abd4-434a5cd37b6d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e8f17005-7b69-426d-9b19-fc62bdc1b848 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aff00699-9169-4cec-971f-e03f0fc0a0bd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1b834976-2c1f-44d3-8c25-28f579a44ce2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d255fb4e-f36d-48b0-9e0d-98fe93d18800 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b3468dee-2713-4ab2-8fef-b780670c6c78 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e45e4db9-1ac2-4506-9d80-c2504e36a03b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62a98fab-a44e-4545-ba9b-9b9c80b46a60 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:83ee15c4-8d03-4b63-a75b-58e9f12f828f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05570675-e05d-48aa-af97-a15d8f2c6848 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0216ef92-dedb-4bcc-9855-fc007cd9bced phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ca73004-652b-40fe-8f76-0c9367a401a2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95f2ad5e-36bb-49d7-81e4-334e52e3ff73 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:076135b8-282f-4180-b043-759516ccba2f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44aae974-6795-4f06-88c2-ba2fa763baf6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48d2b0e5-59fa-4de7-9066-94a4ed1930cc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abd7a688-5a8a-49b5-aee5-78ac9b0a8c73 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1c1a6e9-798f-40e0-9336-0c61c3aa3e84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e5f1604-fc8c-4248-a69f-99a1495fd1f5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eea13e26-7444-431f-84b9-0d02de17df36 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f80b8c1b-165b-449f-b150-bb5cbe7beffc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a32cdb2c-71a5-4319-a25a-f493e9fcf322 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1ab0a112-4612-406a-9180-939935d77155 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a72ade84-7ef4-4e97-a965-87253ebac40b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f8f4218-2f92-42a6-8540-7b5ab9481630 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ebcb0b3-e6e1-43c7-98b5-c5fe582d9b51 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d6c0219-3669-477a-80d2-4e61de68342d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7f5b0344-84e3-4204-badc-5503fdff692f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:437ab6b1-f2f6-4af5-9855-21e108ae7672 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36e69f5b-2eaf-4852-912b-3ee34eca11fd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:041fb313-2f70-4077-ac92-53755f847f3e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:11abe5b5-f8b5-4db5-8a03-d04ce252b36c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78816663-af8c-4e10-a976-0814c70f35d5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35739e62-5312-466f-8c2b-f8daae6c3e0f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ed42ca4-23a7-4894-80aa-aa810b2434da phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7be3db77-68e2-46e3-99ba-62c10b8861fb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b73f5970-8f8e-435f-ae7e-a5b798c1afbd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf7a4713-dd44-4226-bc6f-f6d9144e27e6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:db8d10a1-5867-460a-86f1-361ab4dc2534 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82e41db9-a1f6-45ab-96eb-229bc75e5557 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3f716dd2-b007-4036-b28f-5e6985dc3ef8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c949380-b1c5-4995-8e7e-ca99208f53e6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09e9fac1-c3cf-4281-b37f-55b5d695c1d7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c2831de1-077e-45c5-ac00-f5fff4d9e4f6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d42783b5-50ab-4065-838b-04a6428ea61e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:905e3ab1-e373-4a14-b401-7b87e5462f1f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:ef2803fd-e565-4da4-bbea-231ff2731c4d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d3e569b2-308d-4e8e-8e98-7ff54de77a5b phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c0b7dd07-73fa-4705-b069-7d85bec5206a phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c6b08087-afde-414d-b2ae-fe60a0720b97 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3c2f0918-073d-4776-9562-5f10ab530561 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:a3105644-156e-46f0-b7ad-7035d3077480 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3e5916d7-1557-40e8-8e1d-c26e96de3366 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c3946e0-7a5f-474e-a47f-166766d82280 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f17fc9f4-d62a-427b-ba11-46f651c23383 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:366764fd-39f6-4809-ad13-2940d215b00a phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b42191c3-962b-49b7-9203-b1c24d797f71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f68e1620-3138-4d60-8c09-98c06df12312 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:318b5bf0-fb8a-4bd7-9aa1-f9fa5ef9b9e7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:949b7891-3861-4f89-8a57-e957794be882 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60cdeee6-6120-4fb5-85df-de2b9cc388bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d07b37fd-6418-40bc-bb54-c58a674fcef7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:60172ac7-38e3-47d3-a798-e879a3ff35be phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:01afcde6-2835-4817-8d4c-e16363d6ecc2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f524f80-4a73-45f5-a8e3-99db6ca2297a phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5823878-78c8-4c8c-9f43-01eebe87d478 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1d69c99-bb82-401e-815f-e855e45e2456 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:490b4ada-1a87-4171-a580-95a39aaecbc2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:597d21c6-e677-4915-82ca-d08d619b723d phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27d4c94f-ddb5-45f1-b897-97adcf6ba0f6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82c09094-5c36-4324-a893-70c204a546b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:926bc14e-1f48-4403-a9ce-d4cfec38d3de phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c98fff3-b942-4ebc-9a68-bb6dc9f0f34a phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc50b7ce-98f6-4617-b41e-e2f7dae7edfd phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f81ae171-c867-4a81-bb51-5975cd9b59f0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc742424-ca65-40c0-ae28-0c82bac64703 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:49d3ccb3-5776-46cd-ad22-b22b62030ee1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f4a2824-1bf7-4d73-8528-4762d465a5f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3f05bb5-ae9c-4dff-a6ff-8a714ecbd77b phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c47dd74e-7114-4aa6-9aaa-8bbe9ff42847 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d6f139fc-7d46-44de-b765-7b0e449fc6ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdcafe87-9272-4f18-bd07-a46be3766020 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fe3549b4-5123-4c2b-9be4-3bf8f7db2cc7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:434baa29-89ef-4609-aef9-849950148c26 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95f0a54a-8d86-41f3-a32e-34e3d3d8aacf phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:58aab674-ae42-4700-9815-5c33df8bb467 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efee4928-6a1b-4a0c-9cb8-61ae7cd2f1c6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9c79e070-7fff-48ef-bb5f-abf1034ef95c phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:541436d3-ec41-4d79-8a96-25b32d9aa25e phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d9be7de3-8208-427c-bb6e-9b647359ce8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0c10c804-75fd-4f2c-8d9c-7bec8e4e0fca phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:bd9c1a35-8f3f-46b1-a0b4-3e53764fe1a4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dde3b420-cdb5-4d4f-91cf-fe1530c0f09b phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6e91fc5c-2c0e-4817-b90b-52a08aa2b18f phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:ac9d1370-efae-4060-8e58-b11941a54f89 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c97403d1-1209-44f3-bab4-5945b52e2eb8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c240cbbc-c47f-4ffc-99a7-6e9e3ec48cca phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:507168b0-ebe4-41a6-a676-1e357d069742 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e97a9c4b-393b-46d2-8b82-3ca003b035bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8029a48e-29ce-4aff-8e0c-6abf820ff1dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:32b48b56-a548-4187-baa7-43f88949bbe6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:27bcbc39-210c-40dc-9b3a-60a5881911f3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4369cece-8143-42a2-9136-8dea17500647 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:048e1356-94c3-468b-9c1c-4ff30e4bb5f2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1734ae5-7cbd-45fd-aedf-5b9ca555430b phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e5115dfc-29dc-46dc-b688-51819d45111a phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ff7950f-1b95-4635-8c2b-cad54467a17c phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dda71611-4800-44ad-ba27-6b90e6572e4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:86dfbded-89ee-44cd-a46c-44571ce9c2bf phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12805c8f-e071-457d-919d-b1e00009b6d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b6076439-4625-41ba-a059-304e3b5ea4f9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f342ae53-8dc4-4ddd-9545-2e4680e6926e phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52107e11-5b61-40f6-8aa5-f587c6dc72c4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef496450-1cc8-455f-b435-af81e6b5726e phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a007e437-185f-406b-ab7b-bc023d9fded8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e5f1877-d958-4b30-8b18-d0cc42625239 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c57666f3-e265-4835-9227-b2fa254eef51 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:006ede33-a9f4-4d8c-b81e-37cd95091c25 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:61dd40ae-3663-4af7-b34e-a722eeab66ec phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1f3d986d-4ed6-4631-bc0b-e8646150bebd phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:687c4a35-1930-464c-9837-55ba31eeadab phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff78ee64-365b-434c-85a1-5100cee87385 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:56d13f26-4e77-422a-bbd6-5d0d424e3bfd phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:741ad05c-b2d9-4cd0-9ae5-d1418ea363a9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3a1434ff-3a81-4360-b7d8-3f7a5823c0e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:14bfc4b6-8070-4bd5-b32a-a492cf5fa9e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c93339a3-dad6-47f4-b9fb-dd0099c5bcae phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ddcc831-2943-46a5-9731-ad16048677be phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:023b9a9c-dff1-4417-ba05-d557e88f1260 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6559458f-3eb5-4a49-baca-c808cf1db074 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:98d55ac9-5b68-4efc-bc92-482d22375714 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bdda717b-9d25-4eff-b60e-29dfe8165016 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:85ec87ff-a282-4a7e-8bc8-97ec9bddab75 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:75702fad-6788-40c8-be2a-25bcd8c061e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53655fa0-7c1c-49c8-b402-8579ac06f4d1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b4cbc44b-8998-41ca-b935-b70ab2eaa213 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:26924eb5-8ca4-4f4f-976f-bf728703e405 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:03d81f3d-7e9e-44b5-b87f-3afb7dc3fcc6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7da3f101-c5ba-451a-b44c-c318cdb49cba phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c8d653b3-e1e5-437d-91c1-fd35299ebcc4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2aa98f68-a7d4-4890-87b2-4445ca566ae2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8b1da11f-b10f-4b3e-9574-d274ed951599 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:89a3fb3d-71a4-4dca-a7e7-2e3138e9f5f4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:1a900285-2b41-4aa3-8ad0-f261f0747d5c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8ec5583a-c550-4f1c-a1d4-697877195a0f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:410997e7-db21-4573-a99b-373b8228ade0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8c3056c0-87c7-4abc-bb30-0dcc8dadc997 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9cb54bc1-d85a-4b99-b69b-a169f6c774c0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:19d2b194-b9e5-4eea-b9f1-bab99de10784 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f3580329-f283-49ae-93bd-c113be55ca19 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c198793d-c51e-4487-b2c5-ffc66816e09d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:e76dacbc-c6d2-4666-86c6-88278c9c3077 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f35fbb29-5d41-4c91-8673-dead7307508a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e57f4412-6c0c-48e7-b8a9-9f0eecdbbfdc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7998f7a1-23eb-420c-90e9-9247bc0a6053 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7193b929-7b12-4062-92b1-223af0fecac4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:42185b69-d905-48db-af1e-ab5f65209115 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91dd359c-6d21-4199-a3e6-3614c0150c6b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a26e3ba-c61c-4cbe-a91c-b2318836de65 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8a43e38c-9c8c-42ee-a820-19272df04789 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7c6dc9cf-c3f6-4177-9230-647417581718 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:997137cf-5349-4ba6-83f3-f9e2ae119c46 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2a917cde-196b-4442-846b-da69728f816a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:31d0a3d8-7723-4650-ad9c-7c32aa8a12a8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5c741e48-24d9-4c1e-b3d8-2387a30aef35 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:52d5348c-6983-4d5f-a4e9-2df98659e5cd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fa78c523-c4d1-490b-bafb-a82a788e3e35 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a74447d-1ad7-4b30-bc09-67a4ca952012 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc92b4c3-e1b4-4d2a-bec8-57ddbfa0bd02 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:965359e8-9800-41c6-9050-a95eb2852542 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f5636d52-28f3-4179-abfd-fce3288348e4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:971162c4-6e84-4bc2-a56e-fea42783c126 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:68177a85-c06d-47ae-9a3e-035a6d524566 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c2cfaa1-8eed-43bb-9a1c-5d6d30dd66ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:21a3ae5f-ab5e-46e8-9d64-7b6623a3fc6c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3c78583b-c52b-48d6-a15b-bcf458f00d92 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:99018ba9-d759-40e9-b655-cc16cf43c5e5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:93105209-2538-41c7-9668-b97ab7200461 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:86418272-87a9-49d2-a950-dd0b3968f64a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0df4de0d-6cc9-45b9-bfdb-24c9e1e1f032 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7264a1d1-8ed9-4317-a0a0-cbe7d25ea4cc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d59e1557-a08e-4397-a590-676d5fb634e5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4c8a3e05-80b4-46af-836a-621f6baebbb6 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d86a370f-1ab3-4de6-ad2c-df88dcd62ccb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3222f37a-bf8e-463e-ae50-e5749c56a45d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8cc28273-1c3f-4b7d-9165-3e513568cc4e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:65f99207-8ba1-4f25-91e6-2847c59c6b1a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab0a2960-bc42-47ae-b423-8b190785c9ab phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7583fc72-3941-40e2-bfb4-06eae95c5b84 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2ed3f6ae-bb0b-4520-9607-1a3081cced8f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:258bf0fe-8916-48f6-b32a-f4ab22f7624a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0a3c3555-2495-4ad1-8ffe-cd86fc977349 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:a0372678-afe5-46ba-a90d-8edee9d6c8fe phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:be96343c-bde6-4cfc-b261-766d030e4bbd phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8487552f-3877-4e1c-9bb4-f882f3c7b803 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:79203042-db33-4994-b9d8-0bef1a4a4cc3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:dbafabc6-1117-401d-a03e-cc25634fd943 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:8eda7fb2-b5a4-47e5-9637-05f3545f4a68 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:9bed394d-bcb7-4aa7-aca1-cef25f619390 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3ab7da08-5ea0-4308-b229-beb3bfdaf051 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2fc8540a-b452-4565-81ea-8e67aad68e19 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:df0990ad-19e1-40d3-b493-e48f8d81bfbd phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82566843-50ca-4855-886d-ad8b6c699db0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de24ddb3-d162-4f1b-9785-08925e24e71c phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:737e4ff6-201d-4a71-a7b8-f2a711ebc26f phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4ea5159a-138a-47d5-84ab-4ffa37b706b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:96bb7e6e-6ad7-4180-a528-c671b4607111 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:25211220-4ee4-4ae2-a7af-66ca50cd8cff phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:82e7d61c-26c3-40e8-ac8b-d049049528b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2fcf0ee6-5c06-46e8-affc-7584d3a4c384 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9ce8b613-584f-40ad-be53-1abc21ae3e6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:236d7f35-ca70-4216-8b90-4810775d0e9a phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bf5fab33-e453-4da9-b4ec-7e6becbabed9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:66da7101-5511-40ea-825d-bd7b4030b164 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1e6b06e6-f9bf-410f-870c-97a45bc34685 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d43c01ef-5251-4c11-b7bb-b0c4a99b9bbc phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3eaeb675-df60-4366-a71e-7fdffa64faac phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dad2d6a4-7207-4187-8477-af94e2589781 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:001d810e-e997-4667-aced-3bcbbbf2a5b3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a1d5c06e-2d5e-4a4c-85e5-8754e2e9f92d phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:224cf07e-33c2-4b60-b1c7-6c188cca5594 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ffd3267a-5200-40a5-98aa-c07f404e5846 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c1e3ee4-fa7e-4fd6-8e04-b580621629b5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40cade9e-c87f-4266-afea-f89be89d280b phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fb33bed0-b9b1-4d6d-ac4c-0b7c841515d9 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8026fd76-e8d1-4223-8526-2bb1b4c3957c phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dfc30e68-b4b8-41dd-8c61-3aef58c671cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:065c291c-2744-42d4-919a-22f51c509e0f phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0b9647ed-b91b-4dd3-be90-ccb3a448ac96 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b142dd32-4523-4ffb-bd49-91f6d72023b4 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1b9e335-5f59-4d7d-b92d-f10ccc9d2b9b phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b5120adf-a476-4a22-8f4b-bef41e12fa01 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed21bc3d-97d0-4bc9-b7d3-781a9d090dcd phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bab18ca8-087d-463a-928d-6257e266f800 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bc53abf6-0e03-4c85-aeb3-6a3e90f2fc30 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cb921318-f34c-440a-bf22-5167f328e2e6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce73ef8a-c656-47f3-8fb1-ac613c5a3118 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d5e9e39-84d7-4378-98b3-ba1660ea7eea phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06bda445-581a-4a3d-b3ae-9fdde2796e27 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:29f87bd2-fd7a-4797-902e-67b6bf388625 phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:29bee622-16ac-4664-8c41-6c632c25d57b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d5abfb31-279e-456c-b3ba-a3e5a4395d78 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f24ee5d9-f564-4442-91e3-3b2b29fd756b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:0e0b2d54-8c3b-4f79-9468-46366962a9a7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:3ebb9d5b-7119-46e7-b686-c45b042671b9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:508bc572-7be9-491a-a53b-d26590f4b6e2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:2c829b77-994e-4999-aa6c-045c133b9dd5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:62e91081-96af-484a-8674-5b8399840dcf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:07e57617-bb22-43f2-9eb8-87faadd71379 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:c91f1cd9-3e4c-451f-aa1d-d4ab29b09847 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b02cfa23-e5d0-4064-a8ac-03e0dc8122fd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b02fcd96-3bcc-42c6-aae5-cdaa2bf5646c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ff11c1cb-19b5-4a77-9fbb-272df3adb84d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cc55ce8d-103c-420e-9df1-6da836b51677 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:370bf39f-99a8-4ef8-937a-f650145c2652 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d1eaa9fe-f7db-4ece-b3f5-007e99ef3d67 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0678fceb-18d2-401a-8785-621168de1476 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5dd8b51a-daa8-45eb-baae-883508cb9692 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d01576eb-7844-471e-846b-b72a6e955dc8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:29359010-2441-4af8-9a54-830d1dead6ef phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c3cb4c29-647a-4544-ac8c-bbdbb67f18ac phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9f8b7aa6-c98c-4f23-a4c0-13e2b450cf1f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a79ba593-1a96-40d8-9aab-b359bf078b12 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0ba9b076-3055-4eb1-9f3e-718a939f11b0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:da69ce6a-562f-483d-9269-b87c676d2046 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12daf614-465a-403e-b372-d1c9c5846666 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:622c6f71-7af1-4f0c-8256-76a8262a7101 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f619a13e-3fd5-47c3-9daf-48827451d907 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:91b91751-998f-475e-a04a-c146ca75ba7d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba33af5b-45f8-44ae-9fce-6e2c9cd7fd2a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:47c22506-e76f-481f-ad08-930bf2a7d4f5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0d220fba-33f9-4947-acfe-7f2aa112ede7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2e266051-3631-4ee3-8a03-a86cc985d342 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:701e3315-67db-486b-bd43-212cc2679907 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:36d4af2a-9d30-4253-a695-57c30e794e3d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:94529776-0a93-4158-9c3f-c4db085b4203 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bd644a82-0aba-4818-ba19-ca2dbace4ddd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:abc87bad-3d7f-4415-a292-69becc788f18 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:690b8837-4d15-42cd-99f9-07b27bfeae36 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:95c48032-6ec0-4189-b802-c252ab71a96a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec84ca1f-e81e-4fb1-b825-4833760e917d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a74a4d0a-d9a4-4a03-a5a6-6da65137925c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f31fd4f-5d08-45a8-a4a6-618fcf95ac2e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b7315227-6b24-4b7f-9100-6fc5433069ed phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c8a878b-7224-4415-a082-fc41fb7b5b24 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:936cf6f2-ec2c-4a0f-946d-b859caa63cbb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ba92f311-49b4-46b7-a337-9d6fde190060 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:53b6935c-25ae-4aca-978d-cf55081dcecc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e9c0dec0-cb44-4ff5-8184-a010ae18e25f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4a90042f-de54-411b-8376-49c7c6610fc5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3facb9e6-a12b-4240-b908-aa407594b16d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:d3910b77-08a9-4d3d-84c1-0b5280f88252 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0e7ff97c-6052-414e-9b4e-80bc0fc6a3cd phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:7f719dc8-9279-4680-a187-3cd08dbab8e5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6eb862c4-1eb6-4cdb-aa38-048298018698 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:22b1c1ef-beaf-4e54-be46-6ba425c5c53a phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e42b25e9-7739-4cd3-ae36-8d98b3bb1f71 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7d78a6b-587f-4a49-8565-dfae2ef2f55e phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b872d59c-f2bc-4377-aa43-729ccfd7e8fb phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ec7b51d1-224a-46c7-86a5-3b6c5a6571c8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ab50dafd-1699-4650-aaeb-f7c3f9d928d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:efaa4bcd-3231-4c9a-80c9-fbfd6b1f342f phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5f95b6b-1b01-4efb-ae79-d477bdca6147 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa4c8022-dc94-4061-a548-3073543ee550 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a9dce92e-130e-4b8a-9fc3-13c73bdbe2bd phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8c6aba6e-6e3e-42b4-8c34-051828b6d4b2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aff73d3a-c2be-432a-8daf-263a8b24785e phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:097544fe-5aa1-425b-abb4-1eb40f35f55d phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:17633411-6ed5-4149-8cbe-ea839ddfe549 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:516838f6-730a-4e4b-9ed2-630bba696280 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c06969ef-64ed-4007-bcc1-e79b086c8ebc phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c5d0898e-76fe-428b-9cda-9865216965d6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c270d37a-57e0-46f1-b386-b59e074fe629 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71c804e4-cb57-4a2e-a9f7-b45508985c93 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e03e19ba-1c62-4de0-a5c3-a014662a3821 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84ceeb35-5e28-4a65-aece-2ef1da6facc5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f8948e8a-250a-4511-853c-2cb0dbf7484e phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:41423282-d187-487e-b806-e9058bc4cbd2 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5939e7d8-7342-49a8-820e-57d98e2b6783 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:dc76eaf8-f0e8-4603-86f1-c6bc1b43a7d0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7d94e157-3b72-4153-9c02-9ca07d09473e phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f31a33a-9702-446a-b0e0-f9fb4d3d206c phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:0f9664a6-e7ec-4bb8-9f5b-e760a2d4e849 phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:52f91ec7-d65e-4d0d-978f-82facc6285cf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:6d2fbd5b-9734-4c97-88b0-5a89e1d83b86 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:217ae339-edd1-4994-bf74-9327b02cadf9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:35476937-ef37-4ed1-942f-d9934e692365 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fcb0d25b-4ba4-4926-97d1-bfdcd06f3511 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2243f53b-95f9-4ff1-bb44-b263fae712dc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4956d0d5-7e16-453e-a36b-c348f9610234 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b98048c0-260e-4ad3-82b0-9bbe58a20d5d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c07eac85-fae3-4796-8d0e-76a0b0faf0ed phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9142b020-7106-4ca1-85c1-9fff59572f7f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5f657b9c-5136-4883-8557-e3720c6bac59 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44be9555-98b3-402c-8cad-ef9c2f5b9e29 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a3c4357a-2a46-4bbe-a112-6129646e7308 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:132b9b06-5635-49b9-9d62-cce886acbbc2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:44821791-e1fa-4784-a1b2-06e95bed4c73 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:30ea04ba-b176-4206-b7e3-58943af11802 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9daf94e5-bfee-4910-8fe1-f8ef427d9f17 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:3e589027-da90-4a37-a910-b6eb2f55c8a9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4d96dff2-9d30-41c2-a979-d9973117449d phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5e5db1aa-e998-403e-b39f-b4cf8b3e8b23 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5d48d495-b03e-4467-b63b-ea562a039a5f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7a1b54f8-621f-473e-b867-24b37feb61b8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5495082f-5673-4aeb-9f78-e01832d214ae phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:51b5464c-c1ef-4e35-b65d-ecc09c1c119f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:478af74d-58fe-4f2b-b919-38a31925c5da phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:58fce8cc-b043-4c7a-b0ac-078477d7f242 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87675ead-1537-4cb4-96de-e138a26f4fcb phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:de2b588c-cbc8-4d6c-a0c8-4a28f00354ed phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ed2472e7-1bb0-4279-b8dc-f86d21de2712 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:86d1359c-fd61-4d0a-a06a-aa0e1fd181a0 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c3ada42-228b-4919-a0c4-3ee7b7c10050 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:12c03860-6b7c-4b06-bae2-8a5a5f290cb2 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:197688c7-072f-42a0-a3ad-87d71c2cdf19 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d20986f8-e0a1-48ad-a4a8-dd7625171616 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ce720ef2-e384-4b7e-ae36-0b9bde8843cf phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:59c0a4fb-2116-4170-9fec-f9a525429393 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:8593a7b7-1b2c-4d27-be72-b5402a818b5c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:7abb9d82-2d1f-4c28-81ea-7ad55ddd5ea8 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:35529880-72a9-47d1-b565-f8a5954fb979 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:585c13d0-a7a5-4404-aeb3-d6de6802753e phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:67d29171-30cc-439f-b387-0635f4e3ccb3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1c2d318f-8556-4780-891c-bb6bf5144c29 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:45f878e5-2612-4ebe-8001-ef0b30275efe phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:1983d5d8-8bf1-41a3-9bb6-2e964b82a898 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:34f3f8ba-fd67-4dff-8989-d8e8c200fad3 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:d683e5b6-0c59-4071-a595-95d52f408f47 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cd1a0e91-44c9-484f-9bf4-42e19d62a232 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7ede4ab5-afcf-468d-a0d7-0ad59fecec58 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:39c50667-6926-4d6c-8863-e6b20c8bb77a phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f0169aa0-467f-4b64-95cc-9daf6eaccf6a phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8d0884d3-2e83-4270-93e6-e66af16805b6 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:4db6a7f5-5e10-430f-99e2-2fd67e773874 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1a65c785-3c16-49cc-8dad-fdf51cb55925 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c12f32ab-8669-42d7-ab55-d4b2741ad654 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:08ae72b3-5b03-46b7-97dd-d55b7c2deb6b phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f4a8b5eb-06e5-4f71-bafd-c2fe0aeae9dc phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eeaf42f4-c71a-4e21-9350-776ae7f04c8e phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:bad5cb2a-b863-405d-a9e3-c612a904ff16 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:05fbe724-3d48-440e-beaa-98c40b942a4b phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1615c9eb-5b1a-4390-b510-653d88137b91 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:afb58190-285c-43b3-83ee-4451d6c2dd87 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b9261174-9630-46e1-8c8c-36806f8c635b phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:84298ba5-2784-4a2f-85d4-b353057dce59 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87f6c050-1e31-4535-b3c4-5597e178e7f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:aa8b2679-8d7e-4432-96ba-9fb266d1d0f5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b70fa62a-59e4-40d3-84fe-2655624f29d5 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a429d8df-d4eb-42de-8c8e-39540b19896c phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:490c7c85-f478-4a10-9505-42676a7351f1 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e9290e34-bcf8-4b66-b7b2-6e84c9e581ef phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6eead2db-2cb7-4fbc-8a3a-a72f8b5401ac phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fceeca33-b129-4115-a680-1e69d1118b1a phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e005357a-055e-44ef-826c-f7c228ff14c0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f3a54778-8820-4ecd-974e-4d62b6a21f40 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2f5eccfe-f6ac-4a69-b464-a8f80e3b96b0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b161a67c-b6dd-42ba-aa06-5366851b7c2c phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d0e4a5f3-3273-4144-96c2-3e0efa57defc phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:69d56750-d74d-4977-a409-882bc3a2efc7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:40134ca0-7b36-4f12-8bc1-30c7294cfdba phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d8d57df1-f621-4038-808e-7965938808ca phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b90a311b-f62f-4377-b912-c637de73a7e0 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:25f51ead-2d56-4545-b8e7-beafcd0670b7 phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:5266593c-7b16-4f1b-a796-fb1251a60f90 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:4844c9e7-7f99-42a7-be4f-fafb521d6d35 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:b76b0dc2-4549-41f5-bdca-cdefea6989f5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:60d574ad-ed62-4c69-8d58-fc8e25c8bc5c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:34b6a536-e416-4fdb-84be-6e5962187cd8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:adeb1138-513d-4850-a66e-2d120d6e8147 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39013458 uuid:f9fc02c1-e215-448b-9441-e8739ab5d36a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:171cbde7-2b2f-454c-b539-c772fc56a39e phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:945670b5-2359-406a-8bc4-24d7daa166dc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6bdb6611-e3fd-4361-bec6-b9e19de71a96 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f1c3918d-639c-4fe2-b7b5-3ef1ba147d79 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ef685729-2cc2-40a2-a3e6-8b7e809b56d9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0011641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6c79aeec-3662-4012-b330-30385b83f446 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:5862651f-01ca-4a44-b076-a60f7a12f681 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:f32cc472-ba1e-4741-8bf5-c85659105e62 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:9b377abd-72e2-4434-832f-7e1c27295853 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1ea304b-5f5d-4511-91cb-fe0c0538d660 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2458aeeb-5cab-43cf-8c2b-7dfdf3cb9564 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ae0f1814-ccc5-4273-ae4b-1d387807ff99 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:09211d01-668f-4a5f-a781-28030d617b3b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fdd4a35a-83ca-48e9-a6fe-345fe0f52d42 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2de53b2a-65ba-44fc-ab5a-25edc332e007 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:976a4359-ad67-4208-bbdd-edb4e7fc20b8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:06e4cb81-7d14-45c4-827f-137ed2626830 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:fae8b4e7-d1d4-436a-8bce-bec933691ba9 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:6ccca320-336c-401a-944d-795132aea7b7 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c02db412-b060-474a-a7ce-593873920797 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:eecc945e-814b-466d-9774-e02142566c62 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:8f8244da-0c13-44b1-934c-355546a3bd60 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:033025ec-f15e-447d-96b5-aac7815ace45 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:78e90cf7-0d07-49e9-9fe9-047afa6a0fcc phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:55127fd2-f30f-4488-8b82-0e7c6fd932ad phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:62a6096f-1913-4676-b6dd-52c99ee9d0c4 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:a969ea3b-9313-4207-b14d-e136918d345f phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2bf2a687-7024-47e0-be61-677543d1b28c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:92c7d6ba-901e-4068-be95-2e7b6f22524a phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:48005453-cb02-40ee-aee1-9a7d8eed3a2c phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:e00ee07e-1658-4312-827e-c6a7f0c1e290 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c7c94c38-2261-4049-aae3-d7b063e52823 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:87042f13-ef94-4943-81b6-afb2ee7a7053 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d08cd3a9-674b-45d1-96ce-796f1508d9a8 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:2d2b938c-c676-4f23-9ba2-3e7137c345d3 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:7200aa45-f427-4b17-8b8f-532d8d1db181 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:71c18d8d-3c0d-46be-84d8-63059fea6d9b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:0cfc0da0-6b9b-450b-a3ca-86aa4e32bacd phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:b93f7718-a11b-4923-8cca-923978847629 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:c1528bc6-dc51-45e6-8337-745a02f5b890 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cf928887-73e4-4cf5-8e77-092c5e8551e5 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:19dad44c-4e24-4c51-a6db-eb75e22ad841 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:ac04a2dc-90fa-4628-b502-720bf92bbd92 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:1c256e91-13f9-4625-9ddb-c693ceb38d55 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:cce56985-6b4b-464a-b408-6000180b775b phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39013458 uuid:d2511c30-ddfe-498c-97e8-4404f315c193 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_disease OMIM:610253 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:aadf2f7e-02cd-4f5e-953c-7b2414cf8310 phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:has_gene HGNC:24650 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39013458 uuid:446eb485-6447-414f-ab10-21b0934885b3 phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:bfa1bfca-4912-415a-8cf9-10a1ba9d50e2 phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2fdd7a37-c34c-43d0-8915-0a5122f242bc phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:fb26e042-5bcb-4dd4-98fa-b4246862475c phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:137e1cc4-8173-4fd5-8967-4ca09204e7b0 phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:81856cf5-5e14-4fab-8af0-cca9103d0249 phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:72c13a3c-2a14-467e-9d32-0ae17a47c617 phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:54baddce-edf8-4fab-b5ba-cc166690c171 phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:66d18279-17e0-4f98-8573-7109f25314cb phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:7f9ae209-a721-40dd-94d7-8e7fb78d722a phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:60f00fea-f98a-43bb-9fae-0947639c7ce4 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8e1c5bd6-10cb-4ae1-86fd-e38583c3bd69 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c5d2c69e-8707-4caf-8d10-e03253745874 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:becf6f86-22b3-43d6-bc69-6b4151ccdfb7 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:fa4d7fec-2b46-4add-9c43-a90d3284086e phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:9c98039c-63fe-4097-bbfb-ee489ecb6f70 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:751d98dc-6d0b-4631-aa61-a7e0b7d2988b phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2a66ba25-2d0d-4c59-a81d-020add35ede1 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:519de280-c1e9-4c5d-94ab-7a71c6bcc5fa phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:03ad7adf-dc84-485e-af0f-fe08d4a53b40 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:9ab84b67-e282-4f8b-8f40-201dcddf637d phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c51425db-eb51-43df-9e8a-f7d2dfd72c47 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d3b95e43-dd20-4f55-a662-cc19874b16ea phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:596ea6c8-c1d0-4cc3-86c9-2ec484ef31ee phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:50243f35-d66b-4b34-b806-7df96c415144 phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:3a44d190-a6bc-4a76-a43e-aaa9ffde4fe5 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0002791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:95a7b071-57ff-4e58-93f1-6d4a5115719e phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c6a85bee-9df7-47ea-8aa6-c797ce712b45 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:7e167e21-f2a0-404a-a97c-caeabdd1c85a phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:cc963196-0602-4d8c-b5f1-4464bc5d5912 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d9b83ac6-1047-4f52-a960-6d2cca32db21 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d0ec5f82-d354-4653-8c2c-b8bf7d4660ef phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:22bc0fb7-b52b-4556-beb3-f8a7e402e298 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:41cb19c4-38e4-4850-8231-296be843bc4c phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:75891486-dea4-4934-a33c-f9bb18792adb phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:3ef14cc9-89c9-4168-8d06-60d9f4670c09 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:725e23ed-950e-4e6a-bfb2-47ef85ac7e4f phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:045ee069-23ba-4389-8548-5dabaecfb88a phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:11f4d3ad-e92d-4108-8ef6-500b30ed9833 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:9aa328ae-7609-4ead-925d-4a49240b3b69 phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:e07aba7d-51a7-4d8c-84b8-c5d0e1263297 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:ae9c58bf-d1f9-4ef7-9973-8cc9b4cb1f11 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:629b88e8-4a5b-48b0-8218-732574b9d5a7 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:e90b2776-9010-466d-86d3-ea7e1c791f09 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6dfbe4c6-6fe5-470a-ba8f-adadf8285fb5 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:f5ff7cad-d4a7-4edc-8679-d1adaaf7ea7b phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2365e4fa-3345-4aad-8be0-2f756b53da51 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:834b04af-6bf7-4245-b77f-7044d97bfce5 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:cdb18b03-f26e-4756-9fb9-07f42a5d3057 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:4524f99b-afae-42f6-a703-06ea514f3ad5 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c11ea104-2441-4041-bfd3-4fe15cccf1b7 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:9e527df7-78c7-49ba-b476-e240fd1606ff phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:1d4835e8-2ea3-45b2-968d-3ab45b87a166 phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:ee1ad12a-6acc-4754-9c8f-407ee8849a10 phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:f5baa064-4407-4337-bc7e-c65d14673667 phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2f29f5d9-ce5f-49b1-9df5-592853196f6a phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d4f036f2-8ab5-4f00-bc17-7c897fbdd13f phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:a59fdb25-b554-4703-94ee-b75941411732 phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:4d0c2960-0197-4f4c-ab12-9d14c008a0ef phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:a3e22de2-916e-40db-ad7b-af2a4ffc305d phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:43072558-45f5-49bc-a526-26849097221c phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:feed13f3-1339-470a-8257-143dcac108fd phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:3049003b-b499-44f8-a69a-59a54b0b51b6 phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:805f0892-8d4b-49ef-8980-b324ddb60b8d phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:fc14fd9f-8148-4df3-b788-f173b94c6e94 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:503d0aa1-18ed-4bd9-b9a8-e34eabd0d040 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c1ab628a-699f-4e20-8530-bafe0999bae6 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:862758d6-74c8-4885-8a38-e33d5c3ee0d6 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2d6e8ba3-9cc4-4493-9b5e-995f8919e4c5 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6afd9a07-c490-4bce-b447-4128501f99ce phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:3a2626d4-7806-4863-a780-9d77fa7e6b7a phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:325eab75-f9d7-422b-beac-54705fdf99f1 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:4f87ad25-aa99-4c6d-b1d3-4429476e97b0 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:0fb765d6-425e-4a31-bc81-db84e08cd204 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:535b8b56-b0c4-46f3-9bb5-979b19ee3b30 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2f1c18ef-25f6-4948-a592-c87c20eeb10c phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:512462d2-1546-4697-bfaf-e4550330e35f phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:0c9cdf58-0476-4489-9ec0-11ae7582d0b0 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2a96c076-2a2d-4f2a-b9e0-2764b1d1edcf phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:3949a63e-a08c-4567-8397-50a0b10a1ee8 phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:9ea111a6-af82-44b4-a0bb-182846616adc phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:14159bdd-d1fc-43f7-8270-18a6d2dc46a0 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:f12fd985-eacf-481a-b428-8a4232c2f5cc phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:05184536-3c7f-4a80-ab36-4d5f85db2372 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c0d20c38-cc67-4348-b5ab-51f76489036d phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:506f8d64-441e-438e-842f-6564e00b6466 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:5e8766ca-521b-4451-b6d3-f68a13b6f94a phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:b9cb0559-b5c2-46e8-a090-682567466a41 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:e5774fd6-d44b-4b96-877e-2633d3ea7c1d phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:7bab3de9-413a-417e-9c25-807f0182d1d5 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0001741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:ed7fc9bf-6210-4620-a8d2-6882122fc4e1 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:55f67740-3c86-4e02-a306-389e569a2b2f phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:315b0cc8-b780-402d-b654-5d6230980071 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:3f0f79e4-3123-470b-a35d-6a696e5d4623 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:1d179301-496a-41be-9ffd-2bb5d34cf2eb phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:321ab06f-a16e-493e-bcab-973bc687f5c4 phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:97720df3-308f-4efc-8ece-d8111fb6d1c6 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:1e792c52-d782-4287-9197-f71099474489 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:58ebb8da-3421-4d12-8c4f-6e5759345d89 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:840a7ac3-a40e-465b-a057-8be84d5ccfa5 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:a5fc46d0-2075-4090-92fc-aede299f46ac phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:15f6edc9-6cfb-4693-bf40-e130a54408bc phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:97b2edce-28a2-4b74-b8aa-945d220e6331 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8e82003a-569e-4277-a5f8-a41bd0423f78 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:4fc9b644-5297-461b-be7d-2c622822e254 phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:d2021887-e068-4daf-b094-a3edc12832b9 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:551d4040-fc51-4afe-bacd-36f540395605 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:1941fd69-e345-413c-9451-56449eb03b02 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:76ba92a4-a35d-4c9d-ab1f-4301b9e493dc phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8290f210-27e5-4229-ad74-21750dae5a4e phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d212d1a4-55ad-45e6-bafb-b98b6d0d68e0 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:caf2c36d-bf3d-47ae-ac29-9e10a9ede072 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:0fe13460-d3c0-4d66-88fc-058e6f71f789 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6e2649c1-9d27-4b8c-ad44-ae6bef136a46 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0002791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:7bd81f06-e4a7-4600-a5bb-800ae10ea08b phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8308228e-7c48-4a02-9db0-d9000156d83d phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6a6865c0-8b84-4207-a7a7-d61e19223952 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6acfe6e0-3c4e-4523-bd17-2fc0b82e4532 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8cdb3b85-4181-4acd-b3e4-cbb5d4424d2b phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:156f6fab-5c47-4740-970c-47741e925dea phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c06bed05-0091-46e8-92a8-58399a9ee453 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:10a5e127-6eae-482f-92f8-c164da7294a2 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:819730ba-7a99-4376-ab5f-efcfe12ed432 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:812882dd-6498-4a26-a0e1-c06ea4f23817 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:16c595e7-6298-4943-a256-637a1888c2ee phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:5bd259f8-eaf8-4fea-819e-a4912dc0c181 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:1e5abee8-369d-424c-a5bb-7d19bf7a6cc7 phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:524ca641-afdc-4f39-a7e1-3aee4a2e96cf phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:b6beab4b-ea1b-4584-9aff-5645970eb9a7 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:05718878-453f-47a4-9ac6-ec72eeea8ff9 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:21c7d8b0-cf61-4feb-bc57-9306d10843f1 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c08c5fd6-bce8-47f4-bca1-5b07aa9cc02d phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:28d3b31c-bc4a-4719-805f-36f37485942e phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:55137f1a-ed1a-4c3a-b43c-3e2bd117ec32 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:edb28c68-3b8e-4f72-8727-a58e4cfa476e phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0002791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:0e77f2f4-e097-4c7e-94b2-d1d3625df48a phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:059ea551-4de5-4400-abb7-ce22f5f3faf1 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d3a66cbe-947b-4fac-8aef-00402b45f4ae phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:871b91fa-57e9-4a1d-bd65-0814e4b80c01 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:30ad0858-cbaf-4973-851f-afb1630e6c23 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:ec3c68e5-dcf9-49e3-b5b3-9b9f1ae4cc7d phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:838d2da4-b8b1-4d58-8ffd-92de8ea98908 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:b05e6a34-6d3c-4c57-823a-ee51915acebf phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:f0fdba02-c847-4b37-bb8c-88126d461c37 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:dae0e363-6941-4b65-b45f-219a5ce3575f phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:df9d4437-e91f-4842-b92b-7cdf3aced31e phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:93947d0a-619d-4148-b4f7-fbad00478a1a phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:e537a6bf-8e34-4dae-b692-1b4bc952d915 phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:c21cb36a-6539-4b49-bfca-16bcf56fbd3f phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:ff37ef5d-57da-40d1-aeed-ebc8f853470e phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:c79fac2b-06ac-4692-89a4-12dc6604de29 phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:95f9ae5b-8fe4-402e-a635-954a2d4aead7 phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6d9bb655-0d3e-4565-9948-82f0abe33a91 phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2772934d-0458-4c56-a06c-7eb1498c4af0 phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:1007afbf-920b-437c-9767-dfb5a3b0c727 phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:3fe23f59-748a-4fd4-9cca-fd2c5df396e1 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:ef8e96f2-626b-4ec7-9e7a-b4f04780d9d6 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:a28e8691-03ce-4ac2-a6cb-2e6a68c128b8 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:124100b9-ca70-49ba-b1d8-6618173cf72d phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d7947615-2eba-4dae-a06f-7f66ffbe76a7 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:99cf1c5b-301e-4466-8566-b035c58554d7 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:32b93bd8-acb4-4a30-90aa-788778a45cce phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8d86e156-b468-4546-a70f-84701ebb4928 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:b7d88952-ec44-4286-8086-9510851e551d phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:568123cb-81c2-4127-b0f3-e55183e35588 phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:5669fb6e-b96b-4c9a-9599-40ffbada172b phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:178214bd-9b62-4a76-a941-d2abce6b1da3 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:b1f36ae6-b917-4ed2-8ffe-a3602d408ef9 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:12fbbd17-8dc0-4b48-83f2-ed8ee974fe9a phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:db8f0f50-e730-4f75-b3eb-91e1eb70536b phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:af3a0ad2-39e1-4b4a-beef-0cca52118ab8 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:3338b536-0ac6-4bcb-a3cf-da5cc6a25ee9 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:0905374f-a9e3-488d-a373-eeb9716b9683 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:14221b8d-4af7-4768-98e1-a851a9516097 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0002791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:113bda1e-2e65-456f-93c8-a35b047ac09a phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2eedd172-07cd-465b-bc36-b0f0991d3584 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:f3bdfd41-f60b-4483-9297-55ecfde91a39 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:cd2c0735-7dbc-4f90-987a-6e62539f9bb3 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:00c1f45d-0a01-47d5-a32b-003150f29a0f phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8bcb6240-a298-4ded-9432-4782479264ab phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:799c39fb-8b7f-4235-aee1-b7658f4e535d phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:8b4f4348-0072-407f-919e-d963551708dc phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:28c0c118-6e1e-4f12-b22e-96647d8550a0 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:1d0c688a-3016-44d9-8b8b-001a86ec18e4 phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:21c32091-a040-4637-9b3d-337cb0c663be phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:7ec0e562-b3bb-4ac6-af0e-76f841c3c345 phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:15627106-942b-4252-ac5d-9e7c88809436 phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:bfca700c-f6e6-460f-9ef5-d8a4fd5b3ac7 phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:35989323-11dc-4f79-be3c-864194d6722b phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:9c280f51-a477-4e91-9928-c5028f9d5242 phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:4980073f-82f3-4679-a179-b159c28de7ac phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:f3bbc0f2-80b0-4449-8f8e-e8922e2b2cb8 phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:4783d258-a82c-40f2-b8cf-684b660e918d phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:28b9f5e0-c58a-4f78-930a-1f5a03d13bdf phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:a9af3ad5-992c-43f0-84c9-2ddb03cc98fb phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:38787629-a5d3-4695-8a60-6a38a629644c phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:4c31422c-619a-4bb9-ba5e-8a74f0a69151 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:5c124dcd-add6-4a3e-b6f4-c3a6515400b1 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:986e0896-423f-4aea-8a05-e9600bb36312 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:27459d26-aef7-4220-89a3-2fe4533b5d2f phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:23529e3b-92f5-4890-9395-c3e3e0ad3d47 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:2236a13a-03bf-408f-b93b-e228596e79d4 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:d46802d7-399d-490e-aba3-7f04ce6b948d phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:a30dcb74-6492-4f99-b23c-5e7b81413bd6 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:6322bb8f-622a-48df-8660-d54012cbacbc phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:ec58535f-a8ee-4ee5-8d2a-bea54b463128 phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36528028 uuid:3e42a327-e856-4b83-9c6f-8cedac27226c phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_disease OMIM:620455 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:f2705a02-ec6c-4b59-885b-36ddca9b6d2d phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:has_gene HGNC:3284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36528028 uuid:f6db0cb5-18d1-42f9-bd80-656cded414ab phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:afb1a8c0-4c4d-4646-9f9c-40b6fc47bdd2 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:da03cb71-58fb-439d-b9d0-de35df8d18ee phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:4f20658e-c328-4540-9943-845bb3f9e1ad phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:ac9e41ec-52ac-42c8-883e-5792ad9a3936 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:6ff94c13-c0bb-41f7-a8fd-e84d61350969 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:38995c3d-3d1f-4f17-835c-3a6c5988aff8 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:85a6a345-dfeb-425a-9c7a-7c27a78999e3 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:b88fb1e2-020e-42d0-b70e-1e6092cfb324 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f3062297-e619-44e2-a3e9-a8115bd27bdf phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:be009cf1-cf93-4892-bbb5-8a564579515c phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:d1c09050-5420-413f-88e9-c819531320d8 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:4d846dfb-41c5-483b-9f3c-a17ea9fb43ca phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:18304fdd-3a03-4391-b58b-6e78a2ff805b phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:2d7199f1-168e-4990-9f17-46f76fbb4964 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:7d907ab5-4dd5-4b4c-af85-6beb4f2a89b3 phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:fd301037-405a-43e8-a1fa-2ed81445f00f phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:13ca4bc8-e668-4f93-9d7e-badf911b487a phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:429d66e5-5105-488f-9a2b-8996fdaf0bbc phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3e63dcbd-b3b7-4e5a-b164-207dc3724207 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5e55a582-5254-454e-b1ef-99e531f35b14 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:72e891e8-96a5-445d-a0c4-c32585ccc8d5 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5ffd2fe3-5478-443f-9160-d28a69ac15fa phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:34af00d4-b110-4a4b-9b88-4efa110fc4b6 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:da385718-00fb-4f86-91a2-9b72bde05348 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:7d1f320a-03cd-43d0-a850-c94d349da786 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5565761c-e8a7-479d-adc3-2ee1696d62e7 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:268e97e5-3d8f-4a74-ab4a-5231c3bf4a2c phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:955596ac-00bd-4387-9138-e442acdf01d5 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5ffd8fbd-e663-464b-809a-2e230ddf9fa7 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3a13b21d-8690-4e99-b323-cd659ea9c09c phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:5508c682-31b2-4e90-9008-2fd88f5b1482 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f2fec721-6a6d-42cf-8cee-74d4d02c736d phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:5f1f1d5f-adb6-4348-8d1f-50c42202c3c3 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f684c5f6-8667-4f96-8191-8d4d2dc2b048 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:335664a5-cbee-4fca-9d42-735cfc5987e5 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:a4ffba3c-2b7c-4f7f-aba0-32e329125655 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:26813a87-a40a-4ea2-865d-689e85b2ec32 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:10ed46a7-c72b-4632-ac2a-31b1f395de2f phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f7c6c965-7def-402c-827c-782833b0835a phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f200530a-7ca0-4ae6-8333-d5aa8ddda588 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:89b3d705-ab68-40f3-8b4e-af63fd206877 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:91123bbc-a7c1-44bb-ad57-0b87b5775ddd phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:67f2dcb4-8325-4e89-81e2-23a2f865a406 phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:65df46c7-e73e-4214-9fa7-da539b51590c phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5990f36e-3bea-4afb-90e6-c04bafce7bcc phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:88b3819f-d9bc-4450-8afb-425b6f38f447 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:65d0ee2c-66b6-4934-b7a9-84038c1056aa phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3a1936e6-8e5b-413f-bab3-0f9e98421e17 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:76db556b-5599-469c-b9bf-f2828c0b1a93 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:0f198b6a-e986-4200-b94c-bc1eb6f7ef62 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:408770b2-e030-46e9-8005-012b4001409b phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:cf88048f-7b52-4d08-bb43-128f2fc0578e phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:0bdf8827-ddb5-4e81-a870-14fea0be161f phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:75e642c0-b6d5-4928-82d4-1592af3253dd phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:51893c0c-1489-4f32-8e9e-f5c19170fff1 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:d1c477f7-9b0a-45db-8239-412864de1db5 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:aaccd30b-d853-49ff-9e28-e951b9ea7778 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:726fae67-b88e-4cf2-85a2-c3de0f0956bc phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:065a0f6e-e735-4f51-942b-c5ca02675c89 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:987602f2-c82a-4430-a575-e35c533d3f07 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:5b63ccfd-4667-4e2f-813d-9c3c61e46992 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:16ba0bf4-32ac-431d-a68f-25408bb435da phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:77aa1164-d878-4800-aaaf-9a4cca30130e phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:a00af3b5-ec67-4cf6-bb33-e6306c92e31f phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:03f0cbe9-abed-4b7f-95eb-c485833bdb8e phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:66ead463-8240-4618-a91e-9e5c7991ee75 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f4c262f2-8df9-41aa-9b93-a322299ad26f phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:5c6a7b0a-320c-4e69-9f06-4a3655835478 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:4cfab803-ef0b-4040-8b3e-b7d9da7719ac phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:d8b43841-7218-4d4c-893b-71eb6e6c6487 phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:261d5b42-f838-48ab-880b-b63b016d6e1d phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:8e30397d-ae2a-48d9-9204-750a5a6a519a phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:060b1001-533a-4946-9bfb-2be1e01f0854 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:7e7c7e9f-0050-4d61-abe3-02ce65434fe5 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:099a330f-2e44-4b9e-93f0-17cc876309af phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:72265b8d-29c5-4a53-ad01-d786bbf233b9 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:028182a0-8d3f-487f-8a59-b69970b3ec4f phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:59ffdae2-eef7-466e-b87d-15ebc0e22a82 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:0b34f7ab-33d1-43a0-80f9-6e07fdd2e5a7 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:2d8da541-15b0-43c3-aff7-6830a84082c5 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:1b01a5a4-5c51-485c-a79e-75278c8c1417 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:de311517-5f6f-489a-b846-063e9ffd1663 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:faa0b283-59af-46ac-b1d0-f3d1888d1362 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:13a09365-a040-4de8-8713-813d92ccb088 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:110883cc-8b95-4464-b56b-baf1eed1cf70 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:526629ba-3503-488b-b1c7-644f444d3545 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:d8a393c3-6744-4563-bc92-9de36efa4b58 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:ae967678-6881-407e-bbb2-807f095fbac5 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:54aaf9c8-b7dd-4521-87e5-0b90aeabf2d1 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5628d596-4851-4b77-ba86-c9034afa8f33 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:fe4185af-2a58-42e6-bfc7-303d70d2e9ad phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:8aca8bd8-1fc7-493f-8530-5d67b7cf67e9 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:53373d52-277f-4719-b1dc-4db0b3d31711 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:c93e086f-6878-401b-9c35-860b20eed3fd phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:0b808fa6-e7ff-4dba-a4d6-cd1d807cfb27 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:4e321acb-3123-4933-8fa2-21825d411d66 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:ead32434-643d-4aec-b48b-949b878912e4 phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:114c6568-ff56-4b5d-932e-558b3b5bad0b phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:d628110c-cf84-4763-9669-1e0199f3bbc6 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:9aaf2e15-75f2-4056-9493-8d643bad7da2 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:2ff43f2a-bab2-4dc3-b1aa-9ee7e9b40428 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:2268382f-3215-4b26-add5-3f15725445b9 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:8410fa09-afe6-491a-9df2-f6e2a8756cd8 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:3537af45-5c7f-4f58-8f0e-bb301af4e467 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:8dcb56f3-0a20-4b63-85fa-6aa740079b06 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:5d9f0f56-b276-4345-b278-a4d9e1106a20 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:14eeede4-189c-4714-b390-f3e3bf91e625 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:29f86482-36a5-4ce8-aa8a-4e4bb6f20d52 phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:2b7723e8-52ec-4e99-9919-38bcf33f7dba phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:9ba9f114-5083-4747-bd75-9b2c5ba6090a phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:af615eb5-0907-413e-93ed-7122fffc3a8b phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5e659bb3-1126-47c5-8f9a-edaed5c97baf phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:ab0d7aac-6bd7-4586-9704-8112841313fd phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:59bc9e0e-4086-4180-a745-2a59f1d2784c phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:de1ee993-1548-4518-b72c-ec7d92fd09d9 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:356fd665-75d0-4b99-887e-86324e10c6be phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:099e0f22-df81-4b62-8452-13ee8cc0f8f8 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:8e18e55d-eef4-445b-884b-0d0df446dcdc phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:5b6fbca0-1dd9-44db-aacc-f12663a95afa phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:1f41c41f-2e10-4db8-b9d5-9e2613a73ed6 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:27213f62-d237-463d-9717-890310bc7cc7 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:e8b03544-14a5-4324-8755-293b4ce7c24a phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:c74f2e2f-5a38-43b8-bb95-9eecf80c9936 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:7b65968b-9ee1-47e0-a820-7dff59acf8d2 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:fae5e958-3e31-4753-ad83-d18d24a83084 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:464b6335-0499-4a10-a73d-03ced96d6a27 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:58df093e-45b7-4191-ad18-0299fd2285d2 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:39afdfd5-4244-49f3-bd48-1f46f420f4a9 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:26a86ad3-8b8e-4f69-944e-7ffcb5dcc401 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:d2c0822a-0f27-4dd8-8a67-54fad08e3d10 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:b5352ca8-400b-48dd-a761-a78b38ee51c9 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:4238d22c-dae1-434a-901c-88b7e7e78229 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:3d917dba-950c-4a03-acfd-9cf89ffc509d phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:a808feda-8e6c-478c-80bb-284954f8a06c phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:89ab1274-edb7-49c4-a66b-0dbb7326fdf2 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:e7b3d453-c53f-4a4c-8fb5-53e6698096ee phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:aa40aef0-a27d-4f6b-99e1-117c5a10c842 phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:656f2a75-b2d7-4628-bdc5-36aa1d5d47d4 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:2d66a8bc-4365-4414-a422-41a2bb7d9766 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:85413677-fcfd-4d4c-98f9-9aab9200f224 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:25c01c92-590c-4dce-b2ee-8f1cdcd4cf1a phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3288d95b-c4d4-470a-a172-605d3db959ad phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:ec9b4f14-acd4-43c8-992c-599b32484ac3 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:fb6b1c5e-4dcf-48d5-be47-98be6cda1849 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3e197189-5b17-4902-a64c-995772d24e57 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:73c728ed-c794-4b42-a291-2ed646411531 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:ddbb4e76-2cd2-49d4-8eee-97d95ed7ee09 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:c9ed7c65-c1e8-491d-8d6d-0782ecd140f4 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:150f8076-f83a-47a3-8b7d-b80991530c80 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:a52041ed-a95a-4267-b48b-bd7d7ea5fb8a phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:1be5b0a8-4315-44be-9230-5cc3ede8cd66 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:13a400b3-f5c9-4420-8c14-6e0628406719 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:82339366-c34b-44a4-9028-7d6bbb363ed8 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:fcdf688c-c2c3-43f8-8f8d-8899be7cb1e1 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:1a51d737-3914-4ab2-8e19-9ffa3ee6beeb phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:09a43326-7f90-45e2-a0db-1aec20b7ce28 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:c315cb38-60d1-4c85-8cc3-765959f8f1a6 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:e38ca2e2-c9dc-41b4-95da-02c46930dae1 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:1b048871-9c23-49fa-ab4a-48cd6711889c phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f7f156fe-6116-493a-815f-dc5ec2c1031d phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:97ed2e1c-c3b9-48c4-b76d-c8fe7f939add phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:1b3964e2-8207-423b-8b90-661fc565ee85 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:38509132-147e-492d-99e7-9a45a6d454d6 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:a0d48ca7-9e78-4396-9050-dac6fa37d1f3 phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:1c0561c9-31d5-41df-9686-b3c0303d188e phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:69f3f94a-5689-493a-a601-834d0bfdca03 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:d83199dd-f5a0-4a6c-8bde-a751b4dc225f phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:a2262f71-ea72-4c07-ac7b-d0754ffa6f99 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:e3e8d338-aede-454c-9eb1-3718a85256f7 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:e4b85b05-ef50-4470-92e1-9eb091e8f886 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3f349459-9e4e-47b9-bff9-ea6bd6448667 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:ec92f612-00e9-44a9-b6c9-33ef4ad9bb89 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:abe81cb9-0867-45f4-a319-b03451d1ff27 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:ee76a365-8bbb-486d-a414-a0398247339a phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:2003f8d0-6630-451a-85fd-716b9e10a040 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:e48a4e34-6075-4438-b173-abcdbac07b25 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:569070ac-1f19-4780-bb26-e97f6f329b61 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f5640489-1a7f-415c-9d0a-f1e45d86f648 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:1e1ee935-603d-4361-8a7d-55296a9bc7c2 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:26919cc8-ac1b-4a77-b36d-58fd08409903 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:a06245ed-3f2e-4e91-871f-68143a48b5e1 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:5306fbf0-65ce-40a1-9f97-28eb85f1e18d phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:8f9485c4-bd0f-4951-a3c2-ce8a94255f0f phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:69fa3492-7426-4b0e-8be4-5fd02c6dd4a4 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:8803211e-b6e1-465d-8747-b574a3c7cb91 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:3f7e83f2-7e99-4ccd-832f-53b163b64839 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f02f2a6c-8dac-497e-961e-59a3dabe44db phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:38d339a9-d5e5-4a8c-afbe-286c2c07b8c1 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:3d2abaa5-6aa4-4c8b-b64e-bf3c07de2054 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:a52dd10c-1b08-4cad-a3a8-d170d381ecb5 phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:145982d9-2061-405f-a8c1-aef723b52f5e phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:2e01f63b-086e-4957-a853-27738d09ac9d phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:654ff766-8c0d-436a-8fed-7b7f2793058a phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:4c2f0b3f-1f45-42b1-a823-a269283a5069 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:0d2d402b-02ef-4634-b812-4fb409ee7a22 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:46e96cf4-19ed-40e4-b734-3dd6631c11f0 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:fe38ccb1-405d-4956-a9c7-4e3738c513f2 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:a1db6c3e-b740-4866-93c2-2b406c5a1176 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:f71fa7bc-06b0-474d-8b2a-2c7463f86f05 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:bf8c9484-dac6-4aa7-adcd-060df6d45e5b phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:adc90a6a-ddf1-44b3-9e2d-952f82854cce phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:60213763-e054-4342-b1aa-a45790ab8cd5 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:3b89ea0e-1ed5-4589-b66f-f5b66100deb5 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:0114eb1b-81ff-4261-8dc3-26ae439ea85e phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:bcad3433-4e3a-44a4-83a0-fa6a3612d198 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:0662c11a-bc24-40a5-abb0-76001eacc014 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:30d16ac0-a825-401c-8e06-f12a3bd715b1 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:4c7870ec-703e-41ab-8e35-55bb4962a4b6 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29506490 uuid:f4f8cbff-d728-46e1-ac4a-00b35c96dd00 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:aad29892-447d-4315-8d18-31741d33ef6c phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:22ee42f3-164d-484e-8f6e-b46a7d250603 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0011087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:741dde0e-4ac9-4cb3-8e44-b58097a919d1 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:aef6085d-390f-4c19-b534-9e4d135f48fc phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:d91dca43-238b-484a-a4f1-85ac2e4cfdcb phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:f051dbdd-9445-4732-a4a1-dcd6b2a13b78 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29506490 uuid:e0d2a0d3-ff6d-47c3-a3c4-8b86e8e3bf20 phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_disease OMIM:613684 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:3bf0e230-e96d-43f6-b9a8-1423871da3de phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:has_gene HGNC:3373 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29506490 uuid:55146338-64a5-45b6-810d-3c205ae46267 phenopacket.store:EPB42.PMID_7803799_proband biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:7803799 uuid:c40c7eb7-205a-4a06-b672-6d8c8ae4eea5 phenopacket.store:EPB42.PMID_7803799_proband biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:7803799 uuid:e5ab6a17-b375-4ed6-a6a4-b4ec8e361542 phenopacket.store:EPB42.PMID_7803799_proband biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:7803799 uuid:5fe34573-8768-4595-848f-960637653b7c phenopacket.store:EPB42.PMID_7803799_proband biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:7803799 uuid:9adceadb-7bdb-4d7c-b433-6495bf6aa59f phenopacket.store:EPB42.PMID_7803799_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:7803799 uuid:76a17f1c-c6bd-413f-8535-367357e0c728 phenopacket.store:EPB42.PMID_7803799_proband biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:7803799 uuid:76e4a1c0-5c42-4c19-a9ad-fe9f7a2d80a9 phenopacket.store:EPB42.PMID_7803799_proband biolink:has_disease OMIM:612690 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:7803799 uuid:dac482f6-2afa-40b7-af71-75219fdeb9d6 phenopacket.store:EPB42.PMID_7803799_proband biolink:has_gene HGNC:3381 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7803799 uuid:23d9375c-502b-4bc8-8f97-8410365426cb phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:5d7e9154-2a07-4e0d-8488-72e83e03720a phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:2465700b-d1ff-4fe9-a4e4-c9dea06b324a phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:4f5e0b41-8c5a-45b2-8e1c-20477d3aa6aa phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:82e61a76-301f-4309-a681-ab1ff9b32c67 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:6cbb73fa-7f53-4bd9-b608-b58bf9905969 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e03fce70-5b47-4fcc-97b1-66f980d55368 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:b21beaaa-1728-46f9-815f-c3ab5a971e13 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:b2ab23cd-5218-4840-95c2-eb6b9b40e9aa phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:f76263f8-4bd8-45fb-8e72-e2a47e3eb07f phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:712c6065-69bf-47dd-a2ea-5748160a8a5f phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:434f01e8-bacd-453d-a9a7-c8be11cd89c3 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:6e11e1b8-d26d-4254-8911-729276a19566 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:aaff48a5-05c6-46be-bc01-973a1b28f858 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:4690ba60-61dd-49e3-aa29-abccbd39927e phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:576b867d-932b-4767-9488-ac240447d65f phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:e5c0088a-a38b-4abf-b7ff-6bd03653e2c0 phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:acaf456d-e6df-4039-ad89-b2a07fa053ed phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:82e2db70-2786-4e03-8dde-d63970eac9a3 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:4f898a80-26ee-4ee2-a073-73583148dc65 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:9ebc1925-2ae6-413b-8121-06925918a97e phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:aa43c910-c036-413e-9704-39c94ecb83d1 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e103f4d2-c0d0-41e1-9f59-6d21a76b10ae phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:3886546b-005e-4aeb-8700-292173b8f1d9 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:71db1140-c10b-4272-a70e-87c072a52aaa phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:dab55924-e075-45fd-8459-7691a20c7c26 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:b5ed5774-de11-4a57-843f-72ec62753d43 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:e71996db-0703-49ad-88ed-4e602f09aa7b phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3f34196b-1a8e-4f5c-8e8f-317124ab6139 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:4a5458ac-b293-4ce1-9bf5-660922e9a5dc phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:ca1f71d0-89cd-42a3-82a0-ab11ca112609 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:15d3f70e-b644-4f85-85cd-b8d1958cec9f phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:b0d31587-1dc0-4c76-91e0-40ee3b8a14dc phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:fe3f6530-3618-43c8-b49b-674901fa6669 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:127169c8-61b5-4a24-ad22-46a09e97304a phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:0977f9fa-f5a7-4999-bdd2-d4c27dbd0625 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e2ac1cc9-93cd-4845-9ece-e73c913addea phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:6a6b43d0-c14b-4161-8366-126684577b5b phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:f253632e-6a43-4424-aa72-8564715f5c41 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:4f881a0a-2ce1-4202-8d67-42d258785759 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:143b1f34-8b08-4543-ab19-f2398b656c00 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:02fe1da6-f794-4d8f-9b08-1e3ab70be3cd phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:4c7854ab-de44-467e-8089-abdbf1f5498f phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d7b560a6-428d-4fb8-a65f-1240a091e19d phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:f88f62a2-a852-4b3a-86dc-c4843075d4e2 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:9018a1cd-a101-44d1-a2e7-ce0746f748d0 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e888b77d-663b-4ca2-8a0c-ae0b60845b0a phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:15ea4bb4-cb8c-4da5-a6d6-da71121220fa phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:760a27cd-a9c7-456e-b3a2-05345168dc6f phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:a8557542-4229-4ae4-a0e3-034451991560 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:5c654d55-68c3-4fb3-a7b4-a0f909be9fbd phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:fe5a516e-3836-4129-b821-4a95b7a4f35f phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:ec59ce24-d909-468a-baf6-3bb2c6a99dc9 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:916422c0-a54b-4dab-9576-e48bc6961fdd phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:981f6465-b2ed-4630-a4cb-7bfd9db445f9 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d410ef24-ede0-44f4-a05c-56623066b2a7 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:c23b51b6-5369-4f0f-a8ae-03452dc7be09 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:263c6411-6d23-461d-a970-11106c931b13 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a83ce279-d0a6-459f-828f-60c0fc4e0a05 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:903c209f-9043-49b2-bb20-88f19ee5ff89 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:9aaf07f4-c97f-4b79-9906-1c6f8340d826 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:c6ed6c2c-06e8-42f3-ba84-bf0a3b67020c phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3080bc22-81fd-48cd-95f4-dc61c5017f77 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:7cffd083-fc73-4eb3-bce0-9597771e698d phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:92d5b4ea-41f2-44e7-a7dd-a755fa828c69 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:c81b1636-a690-4361-b963-c19887df67b3 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:6645d2e2-bd99-43d2-a6b4-ef5b455186e2 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:aaa4ba3f-85ec-42e7-aabe-ea6b814d0b3f phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:86752e4d-d3cf-456a-90f7-98042f9cc7ef phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:acd7e4bc-6655-49d1-b70d-d6c82d4f53aa phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:7e8c6534-b0a4-4a71-b428-1f895b80d39a phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:b3645fe7-33d7-4c59-942f-580cb5eadcc0 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:027fd87e-075a-4fd8-83b0-15f7f18bcec6 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:c681e0ec-eee2-4356-beed-7b8658b12a71 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:db5e980c-7f50-46e5-b93b-56582b3c5779 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a1820f14-8626-4b42-9a19-8c1123126551 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:eb681e49-9632-4ad4-9492-3a65d343b759 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:bb6301f0-515c-4a0c-8f44-fe7f4c2e7712 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:bd285aef-5918-4b2f-993c-415fa29a554d phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:18aed142-48fd-4983-af93-a685040a973e phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:2b159a9b-63e8-46d0-a529-942ddea73793 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:e2aeb6e0-ddf0-448c-a555-08b26ef29245 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3e3cbc60-b096-4c6b-874e-42e3857156d0 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:9db07fd0-0b99-43ba-bb7a-94c8b4a3018f phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:8f76751e-a808-4029-8996-913c7c868f85 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:a7be902d-3ffb-4e91-afc7-a111edc43b66 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d9e58bdc-465e-4d2a-be04-196010d3a92e phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d1a46c47-3e70-41a3-87be-fd65d8046658 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:6caeecd8-36c5-4be2-9e45-bceaaab45a66 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:83d20f46-30bc-4255-be6b-16f8b0dd172d phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:0243d7e1-5e54-431e-9c56-ebf6b2a7111c phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a8428937-48e7-4f16-9266-b327cb263664 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:3f38c778-a042-42ce-b2a3-9cfc551668a2 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:da4d601c-0b71-4243-9301-221d1ff3d6e1 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:7af89d30-6684-452b-bfa1-16bce46c3d70 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:49ea004f-4df9-4d66-b163-a1723be90428 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:64f5c8bd-ff26-4ab1-af04-d2bfdc0a4231 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d66a273b-bcc3-4b4a-9e1a-cf7a7218e88f phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:caa90072-3640-419a-84a3-709cd4287642 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3d7f90e9-4414-48fd-898e-0058c9baff7e phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d00d4542-a768-49c8-93c0-26906cfad989 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:61bfb691-bea1-43fe-a097-84a771e99037 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:b7ee3222-dc69-43c8-9f6f-763c717d5a35 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:e3d8b1d7-8cb8-482b-86c0-d9ad2ce56cee phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:fb2e4b2f-d1d0-4575-a4ad-2999a7246224 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:93244c27-c2cf-4bec-8d01-af8fce1baf98 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:002765ce-b052-42a5-8ed7-b1f9a8aac223 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:54763aa4-8ff6-4634-abcc-74842a1e0d4b phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:1d15ca04-59ce-4b29-a660-0a95b71fba69 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:14db0a42-e413-498b-8778-5ff0732d1eb9 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a4bae3b8-7d31-42db-874f-b16bc332e066 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:624fb3bc-cc8b-4f91-94e7-adddb71c78f4 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:5d36346b-fff5-4b50-ab50-8ff07559b73e phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:6ad7843c-c1bc-457f-bbd5-df47801e0be6 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:274992d7-31fd-462f-bfd3-48d671494254 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:7acf4fd6-d340-4095-b655-ed19f16a910e phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:73227d86-eeef-4ac8-a7ff-aae73043af42 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:4a70981b-3553-4e3c-9514-5d75ceb695ba phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3297a354-0d4e-452d-958a-7a1bd8b19cda phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:2f63f8e6-afbc-480a-81a6-3fddc2fd3bd0 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:46c2dea4-2835-45fd-aaaf-a2a9fba7bd97 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:ee14cf0e-6879-4173-8f2b-9f7e2d561491 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:1c15d5c8-fc68-45d4-a73b-cb2002425a61 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:edad004f-95ca-4320-a135-376aa51cd28d phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:3342e5c2-2f56-4971-a3c3-a8354b5c0ea5 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:31ac3625-cf85-47d0-963d-295965189dd2 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:edb5b381-7803-4ebe-ab97-77ac3a749bdc phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e5612e05-1d2f-46ad-b39f-165496a95fc9 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:ad32ed7d-61e5-44e4-be71-b7f2d22eec8a phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:f0a1f1fb-e9b2-4f65-8b19-fa3f6543ac35 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:2f133d39-982a-44ac-8349-21101c6131fd phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:55ded6e2-74ae-4c4b-b05a-057cbe60668e phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:471cac4d-e200-4970-b609-f7bfb8878132 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:372212ef-f398-44e9-af4c-edb10453ba70 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:397b77d0-2b18-431b-8701-7284fb5bbca0 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:7f9da02b-c1c2-4d97-80d8-7301a5cceb31 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:b5a5c823-caaf-47d9-885d-a447bdb89723 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:3b053d96-b353-4aea-ab84-ad3ef7c9e931 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:0b5f542f-2875-44f6-a3f4-648fdb890d81 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:60dce58f-21b4-4ed8-b740-0664da9c5614 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d78686d9-1eff-40b3-b31f-cedd9a9151eb phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e123b80f-22f7-4564-a917-4ce4aec094b2 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:5f4b59e2-0e8d-4c42-9577-11b6b1b22fc3 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:051de9b6-2030-4ba8-a73e-0ceaa6edf310 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:41fb58c0-052c-4e66-b3d8-378c07c6c8aa phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:fd6ec157-019a-474d-b368-a9df97f0e01b phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:642722bc-8473-408d-8d02-e2a29d4076e4 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:4a0b88c0-0dca-4460-aae4-e08428787274 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:61823093-691d-4ea5-b57b-d04cb9d090a9 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:fba9c677-375f-4b88-b596-0ba74bcc99a3 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:2adfee27-faae-4aaa-b43d-475677511019 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:0f4b29e5-5181-488a-9e20-d9fd2b53b635 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:715d4198-cd03-4d4a-b0ce-5da852f0dec4 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:0d19bfe6-0f4b-422d-bda0-9d53df4b916c phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:a50c0ffe-b00c-4662-b62d-12d38e350926 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:efc43bd6-6bd6-4f4a-a923-df98d3a605bb phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:f0f2f8e4-4401-4b2f-8110-e80f2a7b14c5 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:435b4df3-e635-4215-bc09-1ca25c10ab11 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:c67969e1-e2d8-4df5-aca2-6dee33277c46 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:15346fdb-efc3-45c4-b6ba-97a5632ede21 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:f746cdc7-25bd-4d76-bfdd-72eb5970d94b phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:014b9cb5-2dcc-4f35-b56a-2992747f48e2 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:c34cd640-9e67-4dfc-bda8-5a44475435e0 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a8fe7391-ff47-4ce7-996f-50b6b9f0f232 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:ac7aa67a-a287-47b2-9183-3b79622a8f59 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:08e297ff-adee-48f3-b3da-eb3940eeab1e phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:fbf295c9-a65a-476f-8ac5-9102b54e5872 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:b3b2a3f7-c9c9-4a21-b02b-b63a19588b6b phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:dd9948f2-31b1-4c98-bb38-760cc584f9b6 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:8fb46550-9c27-4a73-bce1-d22d9e6e77ea phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:18a769d5-c27f-4f46-9604-0f9ac1606ff3 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:4eb59813-c9d8-4918-8cee-099a6107fabf phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d33c7102-2a37-4718-9c38-6b0da0f7b2c6 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:8d8e33bc-583e-404d-aa0f-dd4d5ab50a94 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:73832a9a-e876-4149-b3e4-d07e8b327cf2 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:fe20dba1-2f02-4c66-a72a-10e47d74646f phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e02a0a0a-f48a-4c7f-8cfc-e19cd3902a73 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:0c7bfe07-6fc1-4bca-98e5-e69f342bfbdf phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d856da05-2fd0-49e9-85a9-84f5664c4a5d phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d5a7a979-10b9-4ade-957f-a3dcda92fdc2 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:127f1c24-ef59-4fa5-8d29-69688e27c1bf phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:b0f545ed-55be-4de0-8dfa-e78618145f45 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:9c735ef3-3aca-4422-980f-409cf090f10d phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:51506a3f-ef0c-4c95-a461-9ee4c26c4b90 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d2203360-3c22-47a0-a407-16c11a6f16cb phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:766e96ed-212c-460a-a2e7-6815a9199f24 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:73876ce2-0609-4bd9-971b-e0053f124524 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:86a7b72d-130f-43e3-9a8a-8113b0242780 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:37dddf7d-5f08-4577-b011-62dcc6890824 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:22c63c9a-eec7-445b-92ae-040d34248e80 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:60e9e89f-fa88-46c5-8ee2-9f582c66c729 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:25300120-8707-4efd-b98e-c0fe33d32306 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:9d72bfaf-73af-4114-958f-154a20e9dd47 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:7e81043d-35af-47d8-ad5a-eece703ec560 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a5caa2af-5ecd-42ef-b08e-af9f14d621cc phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d8692ff6-4b93-42d7-bcd9-005382464128 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:762b89dd-8659-4463-bc3b-fef4ffdfacd9 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:40b16a1a-23aa-428e-a256-860215d75ad3 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:5aa14536-7cb0-431b-a600-729f00d3a615 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:13e176f1-1f8c-4a4c-97f3-f83514f09905 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:5d56802e-14dc-407b-92ab-c3720ea5c6df phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a6a3c3aa-266c-4ac3-b1f8-c40853e301de phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3f70d029-fa1c-4b9d-87ca-98322a2ea4fd phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:cf75cfe2-1a8a-4ff2-9ba5-7598e744526f phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:cd8d411c-6547-4173-b781-071d766f7737 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:38f3edcc-27b7-4e60-bdba-826bd3bd3f6c phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d26d4f16-41cc-4bf5-a6a1-14170a0115a8 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:fbd1e416-c2c6-4ca6-ab24-922c5e462b1c phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:f480b18d-0bf9-4a87-ba60-32caaddafcb0 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:9d84c26a-5e40-46ea-842e-43967109bfba phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:a0cc2f22-acba-49eb-8678-4083cb4cb321 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:227dc5cc-a57e-4398-bc8f-7e0bdb347f1a phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:850d339d-f3be-422e-8628-dd7e68feb455 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d5af43e6-bcda-4fcb-8f31-42b494079711 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:f7ae0565-c739-47e8-92ca-5b7ff9ebf775 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:048e2fd0-7b59-48aa-9337-403c53e666c6 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:dde2a5f1-bd56-4339-9bbd-654f834b4e50 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:aeeb00df-4d1e-4400-8037-6f000dd7c894 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:a731f8b6-5af7-4e73-bfe8-6f5c7a0a09bb phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:b50957a6-9ea0-460b-9b92-2f2b2c1e4b42 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:680d6d26-2225-4ec5-a110-8d6846e17a05 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:7d7d2b0b-2baf-4941-b9b7-f286d3956ab2 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:5e856d19-1f45-447e-97f8-67da7c789ebb phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:7393b170-602b-4d9c-bae2-c54c9f9c483a phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:31ef9f75-f92c-4d80-8883-e77c048ae16f phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3fe785de-fbec-401f-8914-edc56c16c6ce phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:8ea2dbad-0b3a-4384-ab0d-3cc63ffedb69 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:2c2e055f-1c44-4cca-bcad-33b251021887 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:3784719a-e051-45fe-a85d-122b3a4fee7f phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:64ed14c5-7fbb-4923-9a58-7348aa83dced phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:17ad2e0f-58f6-4bdc-9eb2-d9b89f2d76fa phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:3eb3594a-48ec-4639-bd42-d4c9f78fcc77 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:db5fe5e1-40c5-4dd4-a020-3bcb1138be3e phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:bf33fe9d-ad06-4b11-a3e2-04ef4d24a104 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:03e06333-8aff-42ff-a096-a770e5494b9d phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:c77729f1-8b75-4360-8968-d3b7685c3ea1 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:523fdc93-2bff-43ee-919d-1e700030434e phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:36a89a72-c0a6-431e-ac0b-a8ce96a9a3eb phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:231eec34-65f4-4690-87e9-00981c38f226 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:19dddd56-2918-45a6-8642-5d74c0fa56ee phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d2c18912-d65e-45ea-a640-114a5134e7db phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:9cfb7117-a720-4d04-a4a9-35f7a33613f8 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:50eabc61-45d9-460b-87d5-bcba89f23a9e phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:4aebb783-58ff-48bb-bfc0-f20f83098956 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3fc5d968-3532-4360-b074-9b89691f5c43 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:1de22d29-7618-4af8-85dd-d033f7eb3884 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:26502830-e647-461e-a328-e2ca5625ede3 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:9afc29a0-5506-4ae3-8f7c-ed9e86130153 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25331754 uuid:eb9d6817-4805-4426-87cf-f8750c7afd83 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25331754 uuid:6d29bd11-1c40-4c46-a2f0-ff3a5fae3acd phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:25331754 uuid:c0003c22-7745-482b-9b03-74ed0c7568fc phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:8e6e531d-9082-4ac6-b9e0-ca8a11d963e6 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:69311276-54de-4d70-a924-3350422b2732 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:fb61525c-f432-464b-825d-2c2ba466a91d phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:8e40100d-2e80-4ac2-b6a8-5bf63a9b3d7e phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:f763137c-b1d6-4aad-a58f-ce70654de25a phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:e6a6f558-b18b-4cfa-8dbd-767fdcabaa7c phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:e157e0f5-3238-4721-820c-dbae86f17a45 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:7974a3ce-576b-43c8-a43b-c769f3568d71 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:151989b6-1b4b-4966-80af-2fa1bf095988 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:fd8ef2fb-ad75-4fab-bb3c-2bb19d7bfeff phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:a01dfe97-01ef-4310-9204-efa447807bbc phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:40347609-114f-4691-b71a-d890cc741545 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:111e07d8-7424-426a-85a6-100717507f2c phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:e68e0476-2a86-407f-9c10-c78530c5df48 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25331754 uuid:e555f955-6fd5-42e3-b612-173a24b4cc3b phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25331754 uuid:523972e7-b373-4795-926e-cc00b71d535e phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25331754 uuid:0c74c2df-02e2-46f4-a1cb-368f28084581 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25331754 uuid:c017bff7-b28e-48a2-983c-19a1172d2dbc phenopacket.store:EPG5.PMID_25331754_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25331754 uuid:a57133e5-0c30-4a91-b187-5f47bc042fcf phenopacket.store:EPG5.PMID_25331754_patient biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:25331754 uuid:cb420c41-f987-45d4-a8be-e96435b36fd4 phenopacket.store:EPG5.PMID_25331754_patient biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25331754 uuid:f2d4e796-899f-4e5b-923d-2edf00be71bb phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e177fcd1-01c3-44e6-bd51-f38f01f98784 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:4c0e87e0-b22e-4091-8e7c-c2f7ab078068 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:55997d26-385f-4ef3-9005-ce2e7bcbc55f phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:e763cdb1-58ba-46f1-bf77-10daa63699f6 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:ed132801-8411-4de8-9661-abf99ae10d6e phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:c4acaed6-d3b0-4b6b-9934-8ea97aa6f5f9 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:04744cbe-7303-43c8-b096-1568c2f34e60 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:5751cccc-7980-401a-86d3-1ba5f3ccadc7 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:5ee32293-8039-4590-89bc-19edf61892e3 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:81ba705d-95e3-44a4-8482-c2275af933aa phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:2dc40054-f079-4b0f-8030-100e426fab12 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:206c54da-a077-4310-be38-e09e11d9d10e phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:b35214b2-c657-4be4-8755-ad2397db6f58 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:75648ace-ee65-4921-9ffa-04dbb1135599 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:24857698-8a4a-480e-9b5e-88a63282f3f1 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:855706be-1db0-4781-8b5c-b9f7f48987b7 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:c8fde48f-3e2e-4d97-b5c8-3cebc6aea587 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:e0f0180d-951e-428a-bd12-bb9f69013137 phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:e6d49282-a955-44e2-8dce-64b180a54960 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:66a0cb24-59b9-452e-a21f-cc19c1bbbe2c phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:2cdf6a79-6270-4b89-8f99-7eb5d118b0d0 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:35e78010-c886-45f1-81b9-16c0bc5dfc0e phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:6928dd39-219f-4393-af15-03a0e64ce8bc phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:d339d25b-b9bd-4b59-a592-969952fdcf73 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:fa07755c-e95e-43b0-aae5-13f3e6ae49aa phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:1b93c033-01c2-4b3a-a2ec-cab9110c8cd5 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:015d3c54-912a-4a41-ab3d-5e86368c44fc phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23222957 uuid:59bc41b0-41a4-4888-a003-ad5ef8806583 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:1ef2dbf4-e755-4bad-a0c0-84373e28334f phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:89687046-8294-44c4-a18f-573b26e83a85 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:96602510-7c39-48e4-92cb-5ee7f5fabd90 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:f6b3591d-81af-41c5-8f93-b3360ede3fef phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:d696766f-b1f0-4654-a9bb-14895d720d91 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:3f98c3cc-30e7-49be-8f6a-ebd68d539779 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0000778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:755ffebd-ec6a-4fa2-a597-9ba18297863f phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23222957 uuid:dd0cb461-645d-4ce3-92be-dfb704b5d09e phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_disease OMIM:242840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:ca502ad1-a6df-426d-bde3-8f01a6199ffb phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:has_gene HGNC:29331 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23222957 uuid:23d767fd-bb58-4bb5-baf8-a5ad961c941c phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:8e92d275-4d0d-4d63-a6a3-99d767f8c68f phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:7e19af7e-f136-4569-b173-1dc8f5fea6fb phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:425fdbc4-f91e-4583-90d2-9e69f66170e4 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0000690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:94d48d39-6e32-4df6-998c-68d626012aa9 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0045055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:0cea4cd0-6bfd-47e3-9f34-fcfc0fdb5d56 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:1274bd09-9d59-4773-b82c-b7445b3e564c phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:1cb27252-9c09-4119-94f5-e1f12177b359 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9012405 uuid:197c67ab-2ac7-4087-95ce-0f2fa754e378 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9012405 uuid:a6e33db4-5b7d-44de-b37c-69034a9fba61 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_disease OMIM:616390 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9012405 uuid:67fb19a3-1fc4-498b-a411-aed9bb6c9a29 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:has_gene HGNC:3435 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9012405 uuid:6c2aaf94-cd6b-4f25-a731-d9e03ab4d57a phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:21c0a09e-2581-40fe-afb5-22ecae3fbed8 phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:fe0fae94-324d-4123-bd06-416455ba872a phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:has_phenotype HP:0045055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9012405 uuid:49c8ef66-a350-4b14-987e-6d874cdec120 phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9012405 uuid:c650e750-b343-49de-b8af-2a4cdb4bc199 phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:has_disease OMIM:616390 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9012405 uuid:094fd289-a32e-4b05-acd7-6ce6232fd7c8 phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:has_gene HGNC:3435 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9012405 uuid:ef92d14a-2326-409a-8648-90a81f6577f0 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:7bf21348-b009-4829-b316-b5ab4d150d65 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:77f7c924-c156-4cab-958c-2733cd263937 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:67b40565-bacb-44e6-814c-8100ae059bc1 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:5b87ffcf-8d0b-4a71-8fa1-808de6c5bb00 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:6a8461db-b89d-45ec-aa81-21dbcca965b4 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:2cd22f21-78f6-40d7-b901-1d3b4d1b7819 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:d329b369-8973-4241-a472-38ee2481f3de phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:ace10b83-d30b-442d-973e-e8f6c063d54f phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:a629a426-88d4-485a-85a5-0962a22213ff phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:ff74554d-2f36-4f9e-94b3-47a65f8339ea phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0005671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:1b2d830b-09a9-46e9-a466-247e1a24d66b phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:5debf1a8-7fda-4c77-8ea1-4f1b726db67d phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:56c3e641-8555-4bf9-ade9-b16f65442374 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:ce6a27f3-a733-42f9-9202-20cbacdfa892 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:bebbe82f-9bdb-40df-8dfb-c129537ffe74 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:b91c01fc-e0f4-42dc-bb61-66397cc95579 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:aa751295-cf8c-4c8e-ac56-e4bb12dff06d phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:bdc650f4-ef01-4493-a235-037dddd52ce7 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30113454 uuid:93e185d6-b4dc-4737-929f-04329aacf6ed phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30113454 uuid:a15d9c78-4016-4d40-95dd-38f27f2c8ad6 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30113454 uuid:d759bd9a-feda-4844-94b7-9ccb29610374 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30113454 uuid:7a3d0df5-74a9-40ff-888b-6e94aebfd596 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_disease OMIM:133540 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30113454 uuid:0d7a642b-4637-48a4-b05e-869b176508a9 phenopacket.store:ERCC6.PMID_30113454_index biolink:has_gene HGNC:3438 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30113454 uuid:4241f2c8-13ed-41fc-ae23-96410403d87a phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:b6fa0659-fd55-45ee-b59e-c6dd98bf7bc4 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:59a67cc9-30fc-4914-b321-0ef24890aa24 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0817027f-9d13-428a-9f2a-9fb4464db0e2 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:826a0fe3-6f14-4951-8f8d-cb4ff51c15ee phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:1f9f57cc-4d4c-4eff-ad0e-57d865db2845 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:618063c7-813e-4c50-b9ce-4b276f7b1134 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:d373406d-51d0-42bc-a6f4-29035228d8a5 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:31afce2d-368a-400e-bbac-43cdd8b028ba phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:f5c21a0d-e73b-487b-9c86-6fe4956f8a6c phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:2fa45f8a-1aff-49a3-8e1a-0cc3cc479a4c phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:3fc544c6-93f1-474b-8c0d-f7aed24b37bc phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:9ae61f6e-fb13-4e81-8934-1f471dbbacab phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:e4002fa2-0856-4171-8a33-4e25e5ca5a05 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:c3e49faf-d50d-491c-9873-e225c3f628ee phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:c29465ef-d6cc-41e0-a66b-c0689866183c phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:30200888 uuid:f2fd58f4-470d-4173-a833-9ffae77458c6 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:d55721c2-4274-4708-95a1-8fc519a7051b phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:b77c57d8-25a3-4dfc-ba4e-df01f675fba8 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:c2f925b7-5709-4517-97ee-e3c5e08866a0 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:3ecb2e31-8505-494c-91d0-3cd846c2fdd2 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:9b9c0a7a-c919-4455-b62d-6bccdcdddfc6 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:0d738f4a-67bd-4640-84ed-d866a3a9bc8d phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:853e2f38-f309-43a3-9f40-d05e3c63a23d phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:7465f58b-1c64-4b73-a2ad-ba77d10bde36 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30200888 uuid:68664d7c-837e-46b7-9c4d-cbaf95bdc152 phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30200888 uuid:ab80942e-5dc4-40c2-8da5-66108122e628 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:2033b895-117f-466e-ba19-d525d49d9ecb phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:e6ab226d-415e-47e2-a571-5263b5f83ecf phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:b776a67c-7ab2-4e77-a730-84f5be1ec591 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:fcd51dbb-13dd-4715-8c35-21d7fdb3807a phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:7dd53f78-f37d-4cf5-a908-20148abed6b9 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:df9ad007-237c-4c83-98d5-8265071769da phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:932f1ce7-4bdb-438d-8c84-ff8effc54a8a phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:ef1d5f99-1e99-49a6-8ff9-ec42af024f86 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:a0f713c0-ca25-427b-9e9f-03cf5655f61b phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:658e46b2-50b6-4420-9dc5-f0179bb0b82b phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:6701fac9-f6ee-469f-8816-c4b1c2021a0f phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:4dc962d5-994c-4c79-8d8c-6831d5efe120 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:18675acd-1dd4-42ec-8408-90590d31657d phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:19f55886-63c2-41b6-bcbe-eb19467af131 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:dd8349b4-61ab-40b4-89ed-4d117646b443 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:1606193e-55fd-44d5-9c81-3b6244ea95b8 phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:55eaa1d7-3386-4bb1-91ba-57ab38cb16a7 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:87478957-33fb-486e-9858-15850e671b26 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:3414775d-effd-4c93-9c88-4bb0f3193d1a phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:ff25f939-fc91-4d09-8e51-49d6aa22e312 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:dd81da8b-99ae-4a12-9214-c2979ca6ca31 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:6582a8c9-e654-49da-9169-87f2dc2b37e7 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:e5c781c8-e069-495d-858e-1d02d9303ad9 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:f27e10b7-52d0-428a-b2a6-649c6e46f620 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:eed85520-342b-43ff-86ac-0441af52b7a9 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:e3fd2c0c-7e5d-4185-a308-b8459008044c phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:926aabe8-4324-45d7-a3ff-29deae0fa1b7 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0ae89e6b-06dc-4100-a8a4-e87af1863584 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:81cd2414-b9d3-4aa9-90fb-93dd7b4f2ce7 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:d9e133b2-e7a8-4d43-b9bb-b2cac48e3e76 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:cc2a0caa-c7fd-422b-b093-17fc776e2f2e phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:002c4b39-3868-4a0d-a73a-868f7dcc1523 phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:584711c1-3246-4131-b4b5-9188078bbe9b phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:003d398f-cade-4dd6-b361-e1b27978bcf6 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0ecdbc46-c46c-4b7e-8c98-f7c9b3ebc347 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:59c0f58c-c951-4740-9857-43f10bcbd369 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:d6cea01b-44ab-4d94-b637-a6fa46c6a399 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:9bebaaba-d218-4599-8e91-f181d713294b phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:07287863-2dcd-4200-a630-ee3c1c16e9bc phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:93212ced-bc4a-49ed-95c9-45b8ae1a40fb phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:27733f3c-598d-4ca5-a29a-e875abbad8c5 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:1c9f73fd-3881-4d33-a012-359a57afac3b phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:46985ea3-42be-4842-8263-a3bb11984f67 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:c926e441-f249-4607-b925-e9efe2bdeb20 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:fe24ddba-acb2-4c3b-b4a0-deba613ad4b5 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:9fa38b3f-ab49-44d2-b405-cdce43f83925 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:6fe9c2fc-6d84-48e1-a981-538c0a6f04ea phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:92e7d44f-62f0-48d1-ada1-553dd1878237 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:1025b0bd-a74a-4d27-803e-ff46e84828a8 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:44d48442-82ac-4d4d-8b36-493573ba89eb phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:a4b54e86-e38f-42d0-8c83-24a4a32bfa74 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:64785b83-2cd9-48f3-b622-bc0cde701fb3 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:ec8a5747-8194-4472-9c90-f1323e1ef7a5 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:2d7c7e5c-f3f5-4f36-873e-17e6aa000824 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:dcdde307-ba04-4aa2-b827-c025094a584b phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:23da4fca-bca7-4959-86d6-eb2a16a85e68 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:2daa7d44-3520-4664-ac9a-c9bb22e3774f phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:1e091ab9-23ba-40d8-a3fb-483cf8adfa6d phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:359a775b-f2f8-487f-bea4-33cf3e7297b0 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:445cb8d1-4ac0-43b3-bc71-c87416c3a8d0 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:6c7915a1-2645-47c9-94e8-e8a6327683f2 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:bb9297fb-358d-440a-9d91-09ddd37a3bd3 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:9e23901a-7ac8-4f91-bd73-69a4595140ce phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:efc8af8d-c612-4673-a4a6-2d6bb8f0cb20 phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:5af3a414-04b7-41b3-ba70-ec8bda0ad85c phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:3c72d4a5-969a-454c-b482-2c45b71edc41 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0fdb5434-85ef-4b65-9f60-99fe429af78c phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:d8b0745b-b694-4466-a8c9-62bfcd3316f1 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:4e7d6efb-f37f-46ee-bc4e-421269879edf phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0644c939-21ce-4322-b592-bbc18992d730 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:b01c1e78-2fa4-4738-a165-ea3385000639 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:f7be0c03-009c-45c9-8b90-e679211f02d2 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:01f6b50e-2317-4b9f-bcef-22ac94380c70 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:36afec36-a026-486f-a217-37f7ff406c43 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:34ff96fa-fdf0-4f67-b1c0-f1d5eb9ecb8e phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:5e814f00-0a5b-480e-a161-70ff2c19650e phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:3116e4db-1902-4278-99fa-f84ace9589cb phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:82681e92-462d-4630-a72d-07fdc1f1cf4a phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:144b45cb-c47a-4b6d-a5e2-4b0c16256bee phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:630a6b38-0ee4-45dc-9e53-8eeef3b5717f phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:885686f0-30e8-4f4d-a5aa-d3b7da4f1ccc phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:bc681ee5-fc02-4b56-ab66-89020388ecf6 phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:302a58b0-8aef-44ff-b7c3-09c39e64df34 phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:30200888 uuid:52320004-458a-4598-9078-72aa9f907374 phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:30200888 uuid:cb2929d2-c0c2-4162-bbe2-36849f765e13 phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:9bc2320b-758d-49c7-b988-8862178c8491 phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:72fd02d1-2d01-43df-9635-22fe64acc427 phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30200888 uuid:f89c16c1-7291-41be-a2e9-f73fa782ac85 phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30200888 uuid:8b7cc880-f017-4797-818d-18d13220643f phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30200888 uuid:851c56cf-0b81-4351-9f09-ca8e9d085d8b phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:e1aca605-4e4b-4d02-957a-90d235831695 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:e5844584-fca9-40fd-9f17-c38f77483fcb phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:ab4788d8-5448-448a-829b-7edb526f83af phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:f1950144-df52-43c5-89b4-e166f3261cb4 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:1989414e-59e6-4a44-8555-c9842123f3ec phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:e836ed25-a575-4387-8579-70fb407f7e79 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:2751997e-8ea7-42d7-b977-ea878c1c8104 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:329871e7-f076-40d7-8c0b-ea97bf5400f3 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:b2ed7294-aeb8-43a0-a049-6a173c7d46c7 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:94756dfc-66ac-495f-a0da-ab3712bbd8d0 phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:a1881746-3e17-4214-8e7a-4f18f6b6b74e phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:82dcc6fe-c9cc-4e84-a0f0-fdde412fec1d phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:8775d7a0-25c3-455c-8d7d-1f3121ee640a phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:127dc24e-14a6-4f8f-a80b-1e0b9cb7b34a phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:32eb0739-6e45-409d-9ba1-31d28d5ff0cf phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:eaed928d-5825-488a-b6a1-cbfc37b53b3f phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:985af416-a580-41dd-940a-680aae01b2e5 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:47076bd7-c321-4e8e-8e7c-17ecc46d3de1 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:d43196cf-e6d6-4936-b42d-3c8be967853c phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:7c05051f-a8dc-46c2-9148-429f9cef8c00 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:d4a23725-aacf-44cb-b791-3d14fd4b1ee8 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0be57070-4b60-45fb-953e-7c63894417cb phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:3d1a12f3-5bd7-4a19-9ce9-4a958abf7231 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:0a28564a-0900-4654-8304-ec5841d1a721 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:761de2ab-3c01-46c4-b9c8-2b94aa901faf phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:19f9c09d-bb6a-43ee-83c9-794a20ffbae9 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:d6c421ca-96ac-4783-a02e-ad974c45455b phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16865293 uuid:3526d002-b110-49c6-95ed-a04241e16312 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:3ab218bb-e6cb-47fc-a70d-e5433241a52e phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:95cc3b85-fedf-4565-a05c-b2c6a3368b7d phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16865293 uuid:cb447074-d5a8-4e78-b56a-9441b930f2f3 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_disease OMIM:216400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:9d256e44-0d70-479b-a7b7-07cea120d6f2 phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:has_gene HGNC:3439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16865293 uuid:2452ed78-dc7f-4f2f-b801-d76a943b47f1 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30569521 uuid:2bcd82cf-c509-422a-b0ed-22106a19da25 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:ac731049-84c7-4dcc-b06b-9830760c62cc phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:95f7ae19-848a-46b2-a2b6-07a57038ce0f phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:9cd75027-b991-4baa-82e2-8d000e7e3a72 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:59825fd6-9203-4452-b09c-f5bc81929499 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0009577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:c587edfc-4ec7-433a-bd33-06270e39a8e1 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:706607c5-5b9b-44fb-896b-0cb34545a010 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:5e07d1bc-e96f-481a-a1d2-f63fa37101d0 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:56737bb1-60e5-4816-809a-4662193b7d1a phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:30569521 uuid:ceb9dfdf-ce4e-4d25-93b8-59b6cbfaf267 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30569521 uuid:9f2da1fc-7fa0-4c09-b7b5-5dbbee715b7c phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30569521 uuid:21b8e41e-43e8-4a1d-b7e4-9f9816d99aee phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30569521 uuid:6835d028-5de2-4259-8ffa-150aafb963d4 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:1a6dd0a3-8aea-480a-9acf-ef2f9604da4d phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:0a233cc8-3f54-4ed7-9e8e-f4322394a532 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:ba714977-d67d-4d85-a49d-caeaef39bd76 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:f6e3edaa-37ff-4727-815b-8a24adf538aa phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:dafc56d0-6d1b-41bc-9c72-1aa7f4d1c4e6 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:008f5a0b-cfb1-49db-a9e8-c14d2e492814 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:509d0387-21e2-4fa3-911d-3b0a1b5bba54 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:a0fac41b-cc34-4f8c-b3e2-ab6aa7d96950 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:ff7b4684-19d3-4eb2-a8cb-ac24e4c8960b phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:ade10205-0cf4-48b5-860d-2b297a328128 phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:fa8c86e8-3a0a-4325-aced-2ad2cb10812e phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:ef6fafb4-ca78-4e14-a009-c8844c5f056c phenopacket.store:ERF.PMID_30569521_proband biolink:has_phenotype HP:0032965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30569521 uuid:6e835a72-c197-4dcc-b91e-6376c5dfadcc phenopacket.store:ERF.PMID_30569521_proband biolink:has_disease OMIM:617180 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30569521 uuid:e0affcd5-f8d7-4395-8c13-a45eecd11c63 phenopacket.store:ERF.PMID_30569521_proband biolink:has_gene HGNC:3444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30569521 uuid:4eda2134-dd34-4fa6-9d50-e35f44ad020a phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:5caebf3c-36ab-47c6-b9e8-d2beefa83b53 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:7bf73d94-ddef-4fe8-864d-a7171fd56963 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:afe4fba0-5edd-44a6-966f-d6a0aaa511b1 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:bfe43f4d-9a7b-4e5b-af5d-499a42b077a3 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:909c65fd-4a86-4bbf-82ff-db31b48e59c6 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:a747cc5f-a7c1-4bee-8c69-c1af93fe14a5 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0009536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:e8327211-dba5-4ac8-9c21-dcb82e68aaf5 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:9b2bf6b5-947b-487e-883d-0958b7559657 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:27738187 uuid:4583bfe8-b2ba-4b29-9b5c-55a94dcb40ae phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:14e07b3d-c0fb-4df8-95d2-68edfe351351 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:02377002-f5d1-41e2-a16b-15a7eb4e1f10 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:46c9f9b7-b0b5-41f0-a56c-0c1d7103862e phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:89c6a3e4-d452-4f7f-ac20-9b6f8248b017 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:374f4b64-d07a-468b-9a68-22526e552533 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:d7e5be11-fdf5-40c3-bc0d-734b382e778a phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:755189bf-1da0-4ac9-8a96-485882fc0bca phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:8a20e582-4ced-4b73-9158-3a2eed515d6c phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:00be1847-5140-46f6-ad41-b1107cdec177 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:d9019e23-27cd-4197-807a-e4b1eab22117 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:2f681271-ac75-4289-b679-6c4b22553c8c phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:8708f5e9-2024-4ef0-b7db-db5f8e51bdfe phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:2cdb0667-53de-4e04-bd25-ddd20091423c phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:96dfa675-91ad-48b7-a91f-003e3b43df8b phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0032965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:81e5ccad-cc67-4f60-8d7e-7724793cdc01 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:702dfd71-e8a3-4455-aad7-900f001c87c3 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_disease OMIM:617180 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:8705db2b-816d-4d08-8d65-5afd3f322b03 phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:has_gene HGNC:3444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:bda9b733-c87c-449e-84e6-894f0a2559b0 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:c6a5e2d9-2080-4acb-8068-e8c7f80fa78a phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:8fcadd92-3ae1-4ff8-aa34-45b802a5112d phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:28a651c6-7343-4b1d-9f9b-632a7fd14cec phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:f95f42ce-ea44-4dc0-a214-eb1779126ea1 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:b698e994-c3e4-4236-97cc-94d3717ca11f phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:ef30c736-6c67-40a2-ae7e-df70ba793857 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:7bb0eaee-a684-4cf8-854c-2a27f9f8782a phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:39ba8e25-a4bb-40ec-843e-42f82320b28d phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:27224ed4-8b5f-4d61-a979-dd1c90ac0073 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:758fe13d-b51e-4948-8c03-f0dc2461b4de phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:67fa4796-1144-4690-ae3b-91c26573d36b phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:4294f5e2-7302-4c19-bbc5-c5f56450287b phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:9207437b-3496-4279-a509-3cf3bb38e20f phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0009577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:0962b5cc-d296-4ac9-8f70-33fbe6df2428 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:0989c580-fcfd-4228-b979-a3d9eb2b35f8 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0010107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:04a8957a-dc17-4308-8ffc-6d6968877868 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:ac925fc4-af6f-4a84-8649-c1d1b259c4e2 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:25a5249c-879b-4e80-9473-d412bc994d1a phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:9d51e637-4c73-4e64-8443-c4530e71178e phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:3a7b0f2a-4c68-4e5c-9df3-fb6806f39a25 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:93eb43c0-5a65-42dd-8dec-6d14e903055e phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:bb967ab0-299e-4932-897a-3a1d756a3bc9 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:88c975b4-87ab-49fe-aebc-40a96aa298af phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:43d1cf5a-6768-4c84-b505-36bfceb7bc94 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:88e856a6-3e33-4c5f-9484-5cadd1fe67d8 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0032965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:7f5723a6-21d5-4049-9b83-87ee0b7f87a3 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:51b6c231-cdb0-45e2-acd8-e80bbab7af7c phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_disease OMIM:617180 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:7b24a49a-9856-4a89-900d-06fe6496ffa6 phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:has_gene HGNC:3444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:2f08f19e-dae9-4610-af5d-2d0b1b792e79 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:68e1efc4-9601-454d-80e2-d57d03ab6b65 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:cae861a9-14e4-408c-80a4-81852aad0f9c phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:44d63cc2-15e0-4717-8820-d380ffeeba88 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:726a6af9-4e74-47c6-b3cf-3a35b438bdac phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:3dafa66e-4085-41fc-a6e0-81de4e428c48 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:5a300867-a666-493c-bb80-aa367b759f76 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:40e68574-f1e8-444e-8abc-100cd501dfeb phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:7f4a4bc4-909d-4f37-a0d9-c008f252e504 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:efcbc2f2-c4cd-484f-9cc4-64c964ae6989 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:9fb4a911-d284-4b0e-b8f7-e09e2fce6f0c phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:c56279a7-e4fa-41a3-b45c-7bb8b1394485 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:03464e6c-9118-4d90-8fff-bfe3c9d38d33 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:e2183568-9233-4ecd-96cc-39d4eb886173 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:507e203b-29a1-4769-b266-08598968268d phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:7d5d1265-3681-4d9e-acd1-0a74c72c7670 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:aa085c8e-3dff-4e7f-9eb6-bebccd4f6185 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:8097dd82-5d85-49d6-af71-f09a985fca34 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:a8bd4134-f464-4ae3-a2be-e2e2c0448fa1 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:b2d11ef6-0fe7-4315-8f80-e5df46383214 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:5c7a664f-f627-4cdd-96dc-632d4b86258d phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:0f325960-53a6-4565-bda0-5047375cdc2b phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:b7bdb7a1-ee9c-476a-830e-ae7adc604fe5 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:2454352c-8761-4ff9-8b29-ad2d10f5b1d2 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0032965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:0e76f735-b89b-4715-8b7a-5ee8c00e64a7 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:80898b68-93f3-46f3-86cb-0a7ef6282384 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_disease OMIM:617180 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:283cb69c-457c-409a-863f-04f6ec1e41b1 phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:has_gene HGNC:3444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:488d951f-e0ef-4585-9595-19f648ec4c43 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:3fcba93e-bb75-4ce6-8538-93d3e0c21350 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:8aff9fa8-52bd-4266-b07d-f3742a2a1683 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27738187 uuid:0ac232f1-298f-4ddb-8b6f-ebed89c93069 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27738187 uuid:ce94aa27-bc6d-4b77-9564-a93189485fc6 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27738187 uuid:e2ed5e7e-71a8-41a9-be5f-1d67cfccfc4e phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0009536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27738187 uuid:bb315c97-7dca-4e3f-8ced-39be69f8b748 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27738187 uuid:6d099b6e-3e5f-461b-bb4d-618cead7e5be phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0032965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27738187 uuid:64421a29-9251-4978-9bc1-fed38ad6ca40 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:27738187 uuid:2e0c00e2-f085-4e95-af03-e9e732d98772 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:f06df519-661c-4c4e-b73e-efabb339a5f2 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:99646647-c0c6-4304-9fd0-ec601f4d3f38 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:2ce5c3f8-4540-4ad8-be89-67301f1ef826 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:7ee86a5c-1bc4-4f39-9072-f184397bae78 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:1ed92fc6-f8f9-4de6-beca-9e3c1dfd6315 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:ccbce4e7-717d-4cd8-a5bd-05de3fb906bc phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:1b5c5f06-1391-4857-b6e6-786487149132 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:5e1c515e-f30a-482b-a0fa-8e18c4b1a124 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:d8c2749c-f59e-4e3e-8a5e-5ebf6a5c1cfd phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:744d54f7-a124-44f5-a9c7-f712844ace42 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:12d7697b-94a8-47b8-9988-9c71b113ac90 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:61a46399-219c-4c5d-8e7b-9aafb0c22646 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:1cdcd96e-a7b7-4b0b-8442-c355c74bd6d1 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:9921beea-1526-4f21-a137-81bf0ea6334a phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:bc071e7a-3e02-4691-8774-47e076c8069f phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:e31cae08-748c-4159-a880-81c843edeb03 phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_disease OMIM:617180 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:3ae6e164-2f03-48dd-b260-488eea9bdf6c phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:has_gene HGNC:3444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:36c8f03f-36f0-4fce-9370-f69f931af969 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:edf3a8f7-ffe7-48a7-a507-b6628df2c035 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:1a883345-d916-4f8c-81bb-4c47ab347f37 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:7237fa96-b049-4abc-bd0d-1fc5829e0f43 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0009577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:dc91973f-79c7-4118-a51a-1587f3e00b0e phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:c6d4c122-d878-4137-b699-591aedcece22 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0010107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27738187 uuid:6220b8bf-114a-472f-97d4-31c316140098 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:f86ecf47-22e9-4c2b-baa3-37ff211db229 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:4b31431e-75ed-4f6b-8e22-eba1fe8916e4 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:e17ac73e-f4d7-4615-99ca-c6a70e10f8bc phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:8e18aea8-021d-45a4-a66f-2afcd7b6d675 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:202bd293-99d7-4b26-8e3b-5e268270343d phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:b4d057fd-b0e9-437d-ac9f-fd033de5628c phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:702af6ac-49d8-4dd8-98a7-a330fa401a42 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:33eb9336-04e9-4442-aac2-24df61876396 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:791272f5-6419-4b6f-af03-ec1e7d19e7df phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:25925ab7-2cd7-4cad-9456-295e2138f1cb phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:e7b6b3b2-bb37-454c-955e-6a5c5b95f028 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:949cac83-d401-4d01-bd07-fa23080b6ad4 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:30e10953-dc23-4db9-b217-4a536c82ec59 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:e0798a32-a05d-47a3-ba91-ec0f3b8bcf99 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0030367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:d495c682-b788-4f08-94f2-56d51e5fed54 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:81ad0c7d-8faa-4652-a02d-818ae3a2f958 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:84dd9af6-b227-4bc9-8967-524d17661f13 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0032965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:9450edbe-f9fd-496f-ae34-5ff7d59a4df7 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27738187 uuid:e5626c74-98e1-4f6f-aead-73030f1d85e7 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_disease OMIM:617180 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:906ab358-38f1-4031-b1ff-cb79d5c71b80 phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:has_gene HGNC:3444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27738187 uuid:58fbca91-5588-4add-b6a6-5e396f4c4193 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e6e6d5bd-91a4-4aec-aad7-5ad54a69038c phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:f1d6a48f-c6bc-4edc-ae14-d96b39b4b81b phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:674a3707-3918-48a2-9767-9565f5a60d45 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:109f3067-2f65-4bfd-8b13-060de4b51969 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1556ec38-e162-4042-ac1c-0232f0042211 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0002999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e7e3bf1c-dd8b-40ab-a31b-bbb23525dc81 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e2ef009f-4f7a-46db-813f-f2fce9221721 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:9468e537-0d5f-4d3b-9898-8554d3ba681e phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:85d1a8d5-4436-43a9-8230-cbe1fdd3cc13 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:59ee01e3-e7fa-4d26-9ba4-459f22b8c70f phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:a9c7aa96-17bf-4520-a479-4e50fe71e7ec phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:f3fa7e6c-309a-415a-820d-68f8a0fa4a1c phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8fa8ca07-fe51-4d9a-b12b-c991a16d5bee phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e4e0bd8f-95c0-46a8-aaf5-58b21f1158b0 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1a47bad8-538a-4733-a21e-14d7990e1488 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:6d33e025-d2fd-48cb-a67e-5651285681ff phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:d47d3fa9-2c7a-4552-abc4-f58787e58266 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:46d45064-c12d-4eb2-b5fd-1eeda1198ad1 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0010760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:e70c45a3-352b-4ded-be1a-4e7393de7aa3 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:b9d13b24-8f55-4e65-ae03-aa2e77657353 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:15cf4d16-6aef-47df-b478-037f86e5e9e5 phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_disease OMIM:620663 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:4b0b09e1-bc2f-4a67-a1e5-5f361b9b066c phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:427e65d9-3f13-4069-a8a7-9a8c6de64175 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:0b31b972-0ac6-4df9-8351-c45829002e56 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8d16c311-e40a-489d-81c2-9933fe1ac1cf phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:03350f20-2216-4366-b870-4bff76b13612 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0003083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1ff14908-b125-42ed-b64e-3d844956e915 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:b28c400e-5ba9-454a-bfef-d731f0394fb1 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:73e0e5ff-a0e2-4231-b8df-e0b6afff714e phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:209f0f63-7ff4-42f8-ac7a-0b38489d8989 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e81d98f8-2d3b-45bb-a4f6-9b5c95a1073a phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8a11b729-ec95-4ebb-bd4b-7f97960ce7f7 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0010760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:bebed37e-6668-4986-97e3-83ff76b3fbc5 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:9fbefb04-bd18-4a57-98a2-4426dd860333 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:010d846c-7681-4829-9dba-a1321d256a9f phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_disease OMIM:620663 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:fc4e035c-bb84-448a-b95a-7a7f51ebcbe4 phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:c0417d1f-e312-4695-bb0f-3f401fc79027 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:2143bebe-8bca-4d72-934a-293d895c5609 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:eebfb051-1404-4da2-b15e-7eeacfc4b74f phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:de05b9d0-32aa-4a5b-a749-a3f046dab071 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:36c17a77-36d0-4924-bb71-511d56d4e233 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:1fccff0c-1100-4b3b-a6f4-e8990bdbc4e0 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:9703cead-5cc3-4ce3-88b4-3d0eb671bc68 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:9ec2f74e-5a17-4558-be92-d8bce96241eb phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36208065 uuid:5332cab7-617d-4d61-89a9-f236bdee1440 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36208065 uuid:f1671f9c-bdc7-4a6d-bb21-f1032f5acb6a phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36208065 uuid:3d211053-d765-489e-94ae-d8f7fd35147c phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_disease OMIM:620662 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36208065 uuid:d8b10f42-7eb8-4be7-9e2a-c4a8a5623051 phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36208065 uuid:73c50421-7c07-44e2-9616-7753c7004777 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:07472c67-3995-42d5-b083-585d668b231a phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:f88e9765-04df-4b82-bea0-9744208ce1a5 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:9fcc9854-632b-4bf6-9a95-f07d0c112b57 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0009276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:7fe95583-8370-4ece-be02-7d49bbe25d15 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:902ac8b0-bcfa-4c77-a88c-dcc4992fb69b phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:87399394-d32b-48ff-9fa2-5913c7bf5c3c phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:86507ef6-45da-40ed-9336-b1b2e5a4e05e phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:6109145e-4162-4d14-8c14-bbc60e87369c phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:3419505f-2472-406e-b3ca-94185d179363 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:14c567ba-5846-4c0d-8765-e45ec15f558b phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:cf816e43-875c-4e28-b549-92958aaccf9d phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:cc242efd-be1e-4322-b682-c587610d431d phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:c3da3fe7-d110-4b7b-a6d5-bae4c1af7913 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:03ee79dc-e279-4082-8a8b-f45eb6a7c486 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:ef7aeb07-5d00-4fc6-9549-63f11138cae0 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488351 uuid:6a20bb1a-7e53-4d25-a97b-6f185d9fdb56 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0003468 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:14e8c36c-df45-4c70-9d6c-629534ddc378 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:3815bac7-b20d-4acc-ab28-5f3aecc4f13c phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0005930 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:d06136f5-24f9-41ca-9873-c42b50d0e171 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001849 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:e591dc66-f372-4fb9-8a66-c4d745aeb305 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:08a14067-ac7b-46ac-a79d-462efe6d0acf phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:21a1e50f-37d2-48e1-99ae-ca5db08e3904 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:96c6f903-f5bd-4e89-b5de-65acf0c118c0 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:1f2884bc-f5ec-4081-94da-58bee62f06f4 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488351 uuid:d5ffd828-456d-4824-aeaa-583f332c0c21 phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_disease OMIM:620662 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488351 uuid:ac44d321-8a2d-4797-bf60-9f3b56b8957e phenopacket.store:ERI1.PMID_28488351_male_patient biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488351 uuid:f92d2c46-f9d8-47e9-aecf-fdb43bc2847b phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0008846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:752ff87f-c0ec-48b6-9d92-a73bbcae587f phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0010760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:158d7682-da97-467e-bed1-5765a642a8b4 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1e5d0c97-9ab7-4302-b470-3fce03803bd6 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e2f80bf5-5ff0-4497-b930-da282e352d2a phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:c81249d0-f16c-4c9c-b016-b170eeb0679e phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:a321dcf0-c063-43dd-9f6f-f935d89e1343 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:5894a5d9-b697-4410-afbe-88ebea208bf2 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:6cf3e29f-d411-40f6-bdc9-cb55c17f8753 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:5b4d3e30-c700-4ff4-bb07-9ddaff49dc4f phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:73121087-7fa5-4f69-85e4-30926147b53d phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:6cf1f394-ddd7-42ce-ac90-0ab0684d2b52 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8c3fcc1d-ab5a-4462-9c86-68faf4b0d2e4 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:bc2df2ef-40d6-4ffa-9894-1bfd12c5b748 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:373a7dcd-7b32-47ea-9bd1-64c642adbc1b phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:d185e2f3-a2f5-44fc-b5ac-7be0205edc9d phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:14d70463-657c-4cc8-99e3-9de7deb9f0c0 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:34ce9ad4-537f-4219-9d71-09bf3695dddf phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:4d33ba9a-7f03-4b03-b14d-c3c540adc29c phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:2709759f-e6ce-4029-8eba-0126c0c8b707 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:65b7536f-4bb7-402d-ac42-b6e123413197 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_disease OMIM:620663 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:507fe1b2-45f9-4c7d-ac84-4905dddafb02 phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:d4edd674-14f0-4e73-be6b-a139bc65a5bd phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0010047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:34f88c73-68e8-4299-891f-407851433962 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0008079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1c85d42d-af76-4ab8-b60f-2ae559524ee2 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:4d3d26dc-cf95-4709-b4db-f6082d91f490 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0005930 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:37c5cef4-28a2-445c-a74c-ca4d4e556d69 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0001849 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:25320967-24cc-4243-b8ea-02b626923a20 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0009638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:5f95e581-4bf6-4010-b180-edba35518f7a phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0004227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:bf970e03-4233-4ff8-9247-9bf4589d5025 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:9ff81040-77e3-400d-b34a-9ce34d197f36 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:462de485-2fd4-40b2-a8bf-2f8ea33dc8d5 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:f682e0fc-4cb4-41af-9060-4e170c0b43c7 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:75d966de-0d5d-47e5-86dd-5766cf988e90 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:18c2219f-3c6d-440e-9350-58760da08839 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:543f7182-2428-47c8-88f1-0864123cd298 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:d77a23be-1c1d-480c-9abf-f371a84d558d phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0004570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:3ecd5ea0-3012-4bbd-a48b-79be029a630d phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:13aff975-f9f9-4612-b330-62167b0a980d phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0002999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:515dac0f-c8fd-4f29-9d24-6c4e728c6d68 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:875cf4da-0ecb-46d5-b693-8d34b1620297 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:7551d706-5d85-4963-b00f-c278f3cddd0a phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:a320d20a-7505-4269-9b04-bed90cc472aa phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:754cb156-a016-4a73-a774-f11b7fb077b8 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:e71270b2-ad67-4879-b133-502fd31b496f phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:8b01e31f-d0e2-4de4-9cba-1ef7ae0fa273 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:a21e71de-6193-4a9c-a905-bcacb4af0fab phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:c9207d74-dbb1-4638-8cd2-0b0ae6d6b681 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_disease OMIM:620662 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:36588eee-8f76-4852-b293-fcc1360c31c7 phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:85840bda-df74-4e28-ae77-87c46d2baed1 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:486f9f78-440d-4df0-9d8b-6b936e24bc00 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:046271bb-aecc-48ac-8c95-d516d09ab848 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:eec0f13c-76a9-4cdf-996b-0134245284a6 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:dd17b5be-bcd4-4003-bb69-5d52d6e246a6 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:39449cdc-ee2c-4b0e-9fd4-a20e103aa49a phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:64069b2d-4a97-4177-b63e-d046bcc265b5 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0004570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e292febd-5a0f-457e-ac4b-4542918f3ece phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0003083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:216d8e82-968e-40e8-9016-1bdf5836fcf6 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:7b28f3ca-5b74-4d29-b795-7a089ca77ee7 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8b5e2851-e7f7-43a3-87ae-5e32f8124198 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:70f82a1c-9ad6-4839-9b22-a1911c5d08e5 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:14757dca-f2db-4c40-8487-f4f8b52e5a9a phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0040022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:f2de37f4-3b05-4b81-82da-299ab9e0137c phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0040024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:92cce5d5-1f09-479f-91b3-47d433963cd2 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:d77c44d9-e04f-4e2b-aa65-cee0d84b46c3 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:181c289c-625c-4cbf-9edc-2166ea523966 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0005019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:07afb575-4107-4869-8e52-0259dde8a570 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:dea15102-140e-476d-86a8-fc0e54cf1617 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0003184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:fc68eeed-8ed6-4581-b7ae-1e3f61a84e76 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:f5243a58-c1e0-42a0-8ae1-05e01c9d328f phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:606d44fe-21f7-4c2d-834f-2dbc29fb4a9e phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:318061f8-1d4d-4f52-85eb-5bd6efbba62f phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:bf6fefb0-fa6d-49cf-b7ca-0eec515bd1bc phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:43408cec-f4a2-4486-9a6a-a8d72ad42f1a phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1a152adc-b025-4f52-a6e0-a3b59af92977 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e9863f3e-06e2-40eb-b0dc-958f7115c4fd phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0010760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:6d77d6a5-24d6-4e7a-8386-d72d866c19ee phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:d83a9606-cc39-4f80-aea4-d53346c78519 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:e93c2d98-dced-4b5a-b235-2a301422eb73 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:5c671909-fd2b-499c-bc55-efbb503caf2d phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_disease OMIM:620663 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:474d304d-dc4f-49f4-9932-c204e4bbe716 phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:2d3c057e-ec1d-44e1-a6ea-2c1a8a4420be phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0001849 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:7908d591-8b14-47fc-a4f5-ba18bd29b5f3 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:701d7963-629b-432d-b38a-7a959457e270 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0001804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8a1028da-8c54-4dda-9ca9-f523bc2f6abb phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:72a4d8ea-9767-401f-9661-61a4f0e2165f phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:64adad8a-3f39-46ff-bb9a-b6d406c024fd phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:2472ec81-c6b2-46c1-ac77-24edbc240257 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:71a1405e-958f-44e0-969b-6a19eac55be7 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:fa42eaaa-8695-4224-9c51-a1d1a2e3ac21 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:20cc5a33-e45d-4a4b-8f69-51e2832d0715 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:e6faf913-b4d1-4f3f-a724-71a953b3a6f9 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:d20ae57a-1c6c-46d1-8cf4-8eeb35b49ff0 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:c4ecc745-af4b-4c41-923f-79e66a96eb2f phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0005930 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:d4aa1da4-74ba-435e-8902-b94035de503e phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0004570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:38a2f30d-d387-4110-b869-36a89c952c61 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:857cbfba-d2d8-4ab8-bb03-d3104ef4f9d4 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:a201169d-c763-4947-b233-19d6876e969a phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:f2e8cb2b-3836-40d4-9894-9349b156dfa4 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:261e6474-da1f-4cfa-8d92-d21133a9d31e phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:463a1994-9fe4-4b51-8740-e5b9be781a15 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:be5cafa1-0869-4493-93cb-a4850b0a666d phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:cbbabdd1-267c-4ae3-a09b-430cb5e55b1d phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:4616a2b2-ac37-4790-b2b1-4b5b11cd6374 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:a4b12c13-ffab-49ea-977d-91dde4d2b76d phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:d15bd7c9-a7f5-488b-a06d-9b1f3f3837c7 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_disease OMIM:620662 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:26ec8d1e-ee0b-4d0b-89dc-9c23542ef337 phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:079677d5-7682-4eb4-9b51-fabea507aaa7 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:652367ce-158b-4b03-895f-518695c15ff0 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:664a3efd-3ed0-4841-8ccc-bbd0672d00f3 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8b66328b-ae87-4b12-a92a-081ac31b61de phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0009380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:0bbfea43-76bf-483c-9c4c-8bdbbb0e551b phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0009487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:fa6b2339-0212-4b2f-b82b-295c13b688e3 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:1535d8ef-b078-4493-a8dc-0708f7e39be2 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:6c751a72-3443-4ad6-ab79-8b23c9853ae6 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0010760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:2a8f2a8e-8598-4f03-b701-2397428e43fc phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:df170426-d9f3-465f-a4fb-d79ca2502e65 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_disease OMIM:620663 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:af9b0a62-3fd0-4a5d-9f78-af0f5f14f2c0 phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:7ab77fc1-4db3-4912-9191-401432ae59fc phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0004704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:8507ea2f-51de-4f50-9567-eda33a3ec2c2 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:3be72f0b-bccb-460b-97a1-f50e57482a88 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:9ca7e53f-2577-4834-8ce6-2135d64d9adc phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0004288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:3c263737-8c40-4151-a940-33fe0ad0148c phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:c39e8e3a-3110-432f-af4b-e4afa28876d9 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:a8b75f32-5d03-49ea-b90d-23b4058f2473 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0008093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:04a15a9a-60cf-46f5-b4f5-f65a76dcda58 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:a1155ab2-abc7-4f5a-8e32-6b708988cae4 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:9cfbf1b5-34e8-47b2-a60e-18428f44ef76 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:20514673-975a-410e-a1cc-d5da4443f76c phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:3260b3ce-9fde-415b-8f7b-33706b8177ee phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:d5258831-e7b9-4017-90a8-f330b045b2c4 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37352860 uuid:0bfc8ab7-d6d1-4809-bd83-d01806a97785 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:cfcd86fd-48a9-4864-9471-8277f76dbec1 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0001849 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:63923011-bc12-47c2-bfcc-d3d8ed510dc1 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0001802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:dcd31edd-78dd-4959-97e6-ea4614e8b6fc phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0004570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:7259e124-79d7-43d2-8426-cfffc3322566 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:47947493-9d02-4ceb-880e-8b559f49a2d0 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0002999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:55d89652-ea3e-449e-b50a-5b5991bb98e6 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:4b6c602f-98cd-4214-99dd-bc86668acb16 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:023a5525-3676-4475-a636-788b41f9d084 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:bfe86e73-8182-4418-aeed-8a6e128dea88 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:de887b06-84a1-4986-9c35-2d0bd683f12c phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:3c0fc7e0-f0cd-4aa6-9ea4-09a894594159 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:d31d7be2-21aa-4d77-8d3d-94c2877e6de9 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:3e262f68-53ea-4849-872b-d9d4cb9a0ff4 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:c1ee00f3-3f4c-4bed-88ad-0b4b23afcebe phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:954d362d-a3ad-4561-83e3-59b9e83564f5 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:707fecf2-771e-478f-9999-76b64d5d7133 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:13f81965-6815-46aa-9635-4b27d6cbc6e2 phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37352860 uuid:958eb2db-3576-4f1d-b9b9-fc1d0200744c phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_disease OMIM:620662 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:d19e133c-ad48-445f-8590-b8702420465d phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:has_gene HGNC:23994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37352860 uuid:b3adb22b-fe11-4ba5-9ca9-90fd91cdb2d6 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ff48f5d1-7b31-499d-ba10-a53b96fe11ea phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ca9c75fd-8e01-497e-a532-dc55a302cf73 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3f0b2a2e-f649-46e1-8ac5-2016c9744b11 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:aba95dd8-3aa7-432e-b173-a7499ca51eb6 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3f8bdf48-befb-4e7b-9250-47959f132d91 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:799429f5-f4e1-4f2f-ab55-852ba049450d phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bd8df1c4-5a00-4b80-9339-9ac37d383aec phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a2a64b59-5d3a-4df9-8712-ae1d2223a927 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3d04de69-57ec-4c8c-83b6-c5e915111dd8 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:233eadd5-1695-403e-aa8a-feac07a67da6 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:082c5a88-49a6-4a92-b713-cbc8c753db6c phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6e7d4a21-dfd5-4da4-abe3-63cfda787e33 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8ce7e778-4685-4636-a657-02c3e7d76317 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:dc6fac1f-ec31-43bb-af79-708fcfe55235 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:842e6e6d-c46e-4404-aa9d-6aa6c9d1bc4f phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b7f213c7-26f3-45e8-895d-df5a9b232bdc phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bd8b2c6b-2a7d-4464-ae98-adcfa1bb56fa phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5ab6269a-c4fb-4c69-acdb-6e3d65bf07ac phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5fc2e8ae-e1d2-46f5-8d1a-70a0723509e4 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:81064e6a-894e-4b68-a882-c6c3ec07caae phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9201c067-d6a2-492d-bbfc-14d3807b4a22 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ed3a30aa-8b7b-44be-b3f1-044b2ffd7740 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:0f373e58-06e9-4910-8ba4-c743eaff5176 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bc711adb-d437-4beb-9388-39cb13f48881 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:15480c3c-ab79-4f49-90bd-05013d0ec15b phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c2426a38-651f-462c-9c5a-2f34c88c0551 phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:36bd90b1-7396-4090-b697-d428d0affcbf phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:f9b39961-97e4-45f4-9ebd-e16de2866c8e phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:ae0a0ad3-15bc-40e0-a8f4-1192ac9a0fac phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:b12f3df4-c739-4d92-a069-ea0d3cf1afdf phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6989b9d4-94f0-44d0-9f10-8f50268852f0 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:abd5bc0e-2508-42f5-bcd2-fdd3a1407a43 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:903591d0-b582-4a6a-915a-9469d787afc5 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:79d88cc7-b4ef-404e-9ba0-d31cd53f654a phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a2824e86-b3c3-43cd-ba43-b4039918b11d phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b980d3ab-7771-4dfa-9f16-cb8b1fe0477c phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f1aeb594-39ff-42ff-8ebb-40094f241e78 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:0cc1bfc5-d2a1-4bbd-8af4-5d330dc89040 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:951dab16-26c6-4113-b1f8-fa91bcb6ab44 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7448018c-2707-48e3-9146-2b1c8352117d phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a9ee2565-4e81-4de5-a942-5c2455164d16 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:de8ee6bd-e6b4-4d3a-991a-2059cc7630ce phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c056284a-f424-4a36-8172-7ccac7b18e8f phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1386ac47-1a99-46d9-9b08-a0c128904127 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:65986402-8db0-4e69-b05f-4a1d2849269d phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0007902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:cc5d747b-ac59-402b-8b68-7e725a9a601a phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:647c2313-3a66-4b3e-8b8b-f52d238f3d72 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e53a41b7-4719-45d0-a5a9-687ee7719a00 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:0b02a081-ea00-4644-a0f2-2a52b527f665 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_phenotype HP:0012447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:fdb16032-5d64-4868-8e20-43a3b40711e1 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:a0771f13-94b7-4ac6-8915-ccf934850af9 phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:02b2f766-3818-433f-a22b-eb2da79e9ab8 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5a39c9b5-8575-4692-bef9-90e16396b8aa phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8e7ecea5-dc72-4230-854f-cff20117f736 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1babd4f0-5b41-463f-8e3e-0e63d1642adb phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2d9e1028-707a-4d34-a7fc-36c60cd643dc phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:d84c8026-8df1-4a47-8b77-d853bfc59a07 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c3d5c978-b4c0-481c-9661-1e8a8b3a9352 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ea0f00ab-6705-417e-babc-53fc1ecbd25a phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1e135158-7ad7-4451-a003-e00a311f0373 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:abe988c6-4751-41dc-8dba-baddcb424073 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c73f6915-3768-479b-80a7-646a24db67e7 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:47037a74-7fad-42e5-9c6a-0034ff5a0da5 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7b579e71-2541-4836-9e61-1d302b670fcf phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ae0a0d75-f433-4649-a06a-2e8d495ed209 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b65ed062-7780-43c4-b4ba-8bd29bd058d4 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b763324e-9ff5-44f0-b7a3-70d4a3567951 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9849b5d8-b7ad-43f5-929a-03438c062426 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f34901d7-bf8e-47ae-a70f-66a7388c9274 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7014cf76-df9d-4c39-b155-ccebf430cf24 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7272ef91-afe4-4881-ab5a-77a0b7c83fb9 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:d183a841-23f6-46bd-ac01-94b4830bd70e phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5c85a527-a5ee-4768-a0ec-567d72ec302b phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f15267c5-8c20-4528-9b02-71a6491327e8 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:344709bc-c793-4910-ab3b-f783aad21e0f phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:756c2f1f-366f-487c-b69f-04da1e0ad8cf phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:23a83c10-978f-448b-8d14-e0b48d788655 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2e24bf56-6577-4447-8eb8-a42b8dd42de5 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ddeb8602-46a3-49e1-bb4b-861359b5a4bf phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:693525ac-b480-4759-89ff-073768b33b28 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:caff2c11-6bb3-425d-a8f6-6645935dcc36 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:02792e83-3596-4f62-b568-4f7a0e39bf27 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:d9eba1b5-5355-4f04-8a49-df9f0e9379a9 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:81fd1d14-9b65-46e7-8885-163b2df58a1b phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:b0c9fc7c-3a57-4bd4-b9f6-186c2c309ef8 phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:39a9767f-8f44-48a9-8f63-7eae4b663d6f phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:629f9e63-e7f7-4f16-9803-cbb1b7c7143e phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4eb9283a-e4b2-4b14-befc-95867fd3b5f5 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:79325026-2fc5-4343-b23d-de7e2b5cf2db phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:d1360ff8-9f15-4cc4-95bb-717fa21c0751 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ef10fffc-440e-4a1e-9f1c-b5e6ab387447 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f37f47de-b7eb-49b1-a4fa-9b043fd9e12b phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:152f3748-b741-4255-bef7-ccdd6ad6e417 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:acf91826-b6ca-4360-9a7c-9d6fa53e6435 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:43337a0e-c499-4b7d-86f2-a4c9ec3a77c6 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4cacfaa1-9fc0-44f8-98fc-eabecc6fc68a phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ebaba5dd-5684-4134-a7b2-333d8b1e5610 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5b901b26-3b1d-4c52-bb96-41a1caaf79f2 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e22d9f08-52b6-49a0-9c6f-6347e72198f6 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3cfee8bf-9199-4659-8856-4c4850458798 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6641e987-8cec-4c27-8396-295b3a538abc phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8104b42c-5ad3-4e92-86e7-2ef193903a76 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:3d176aba-a02b-4e11-9f73-b8979a51e51e phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0012447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:2f7aed40-51f6-4550-9bfe-e5193fcf5dd3 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:f2978b62-f7bf-4fcc-8cee-88f0ba0e5b0d phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:a9d0a225-226a-422c-81ab-bc689a04a0e7 phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:48dc014f-7bce-48a0-8c8e-9f45e67a88fc phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:57c76c59-0d51-4105-860c-0e7052cc2241 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4c5c7a45-9652-49e2-b454-bd4a5fd98a1f phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bcc90ec6-b95a-4817-8ecd-5bcdbcbec03d phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0030423 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6153c861-4555-4ec9-a7bd-f613b3b11056 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:0b08f18e-306a-499c-b8fe-723747310426 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:60a04803-b7d5-41f4-b199-4b46e327e07a phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6e98dd21-e27b-42b3-8f7a-d438e7bd60b1 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0001789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:eb7c7fce-0bda-4015-8ac5-643cca6302d2 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0002089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:d8b59c69-5dc9-40fd-9bba-c4a55e8ce992 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0035006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:259de410-ff38-4b1b-915b-6cc69b6f15bd phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8c39c3e4-c955-46aa-802f-298de613c6e1 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1b3d7a9a-f7b3-4079-a85d-c7c193224938 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9d7ef6b3-0c57-46a0-8737-d226233b540a phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4bb7190f-e394-4927-ae05-3ad55c6a7825 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8fe36552-8bf3-4c5f-880c-0aa0b031fb1b phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0007052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:67781e06-8064-4458-9c10-68f7df2fa25b phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0100750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2c3b3e06-df4a-4b67-8175-ed8744ff5059 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:d3854cf7-f1be-426f-afc7-4f4a6ae4a024 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9f8f0e4e-8550-4d36-9918-04aa60e393ac phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e43974e3-bd74-4a3e-8790-10e7a5d5be9e phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0004935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e4eb95c0-82c1-4e86-aeae-c6474a3a79d8 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0012447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:efc6799e-99cb-4a6a-9754-68fc9e790404 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:1f6de952-8443-4acd-8c50-567587543ccf phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:3bd794b5-cbc7-4787-a352-93cf51b40fdd phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:57502155-ddbc-4a06-bda6-2966d99cf572 phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:a5871528-d5a9-4cf7-8783-e1b2f9252920 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:178e02df-7ba0-4166-a22e-263659360f82 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:dd1a4ce5-3e0a-4590-860e-35bb4a3786cf phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f5e5a854-bb67-41af-b8c4-1539b63311cf phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5c5d1ae9-8ac0-4387-8a08-48276084e889 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:16dbd7e9-768b-49a9-9b84-afed734dc8ed phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:58f8a252-6611-4a81-b1fd-0a23dc24cab8 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:20cfdb88-c7db-41dd-b1b2-778a1c46ed09 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a911c671-6760-4a16-82d9-25c935cccf69 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5770dae6-ad60-4ab9-a574-4131e724d6af phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1107bbcd-b34c-43cf-ac82-ed232353ef14 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7fe81d9d-f786-471e-8a0d-17a0221de912 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:96a86492-84e0-4121-b904-447d89132de8 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:05bdcb26-f51b-4c4b-8ffa-24ea0c075e29 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:397972ea-1bba-4b85-b5b9-7ef742b8de82 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b86c26b9-ff0e-4a32-8df6-fa92963882ee phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:592f2b0a-ae16-4255-9e95-48a54a6ca2d7 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a33bc30f-cf7c-4716-8b8d-b5487f820924 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:dd02fa84-51ee-4807-918f-8d374693edcc phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bb240476-8116-444f-8180-f303b40b57c0 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:309507cf-d6c3-43e8-8e13-5b73d137db08 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:005f166f-bea0-46d3-b913-3b33b353a5a5 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9db8f99c-43a5-4317-b6ba-3807b77172a8 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:7a3a98d3-8973-40af-9a34-aa2e1fbb9009 phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:910c8274-84c2-4b1d-b59b-191e2f9b13c8 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b67a62e1-b070-4ade-8e55-fda4c61a0815 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6d4be178-6c84-4d98-8855-7d43a3d46dc1 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7d164181-d319-461e-8c5d-a9ad42e41b33 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:39dbf3cd-9f8a-4023-8d92-12e8f37f7d75 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:95a121e7-a245-4796-be25-af1199f64195 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5bc0e208-3623-446a-aa82-e1a40166d013 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ee815423-8716-4b40-9757-14b77c75d619 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9f16378d-2162-4e62-846d-b2078e9068cd phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:11742e87-4251-492e-9569-7b2bb90ccc14 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e6fd5f6b-c179-45f1-a55d-33685fc435ba phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:dbd1949f-b1d2-4c72-a5ef-38a323bb8bc7 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7e5c3934-7bce-463f-a00e-096012ee67e3 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e283e5fc-9119-4375-9fc3-58621b0b9e62 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:00c5c2d4-c369-45c8-9b93-1e42248b67c6 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:377b0202-8080-4cb9-bb31-813f47086bd9 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:806c2781-b1a2-4d78-a524-da2bcb898769 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4068bb4a-1339-4c83-84d2-8672eb3ece70 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:574bba02-8716-4c6c-acd8-d94ce9f65bb8 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:843e369f-6459-414b-916f-605a14d35f93 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_phenotype HP:0012447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:570f008a-d8d5-4c9b-a218-10952e571587 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:f69be7cd-ecf5-4c6b-a463-f5a87d014921 phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:1514d389-c7be-40c4-b4b0-bd63229127fd phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e33a0429-87a6-4e21-9639-be6f77ed9287 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:067be7f9-a17f-4e36-9858-2192018b9e20 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6441a801-0f00-42a6-8b8d-1421a9fca5ae phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c621d5a2-d44d-4c0a-96c0-33cb5fce7780 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f01684be-fdee-472d-9271-1d53a639d4c2 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0012447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:77d42e7b-27a0-49e8-b4a6-9a0578458ab2 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:46cd4777-6d82-42b6-8428-e57d0f44ce28 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:b77317ce-d350-4209-9570-db5aaaf2612c phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:ca92df57-d574-4704-8c8c-3b500e374944 phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:67193676-a18c-43af-bc56-5a8692b81e4e phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e7ac4fbc-4f4f-478c-ae3e-bd103e5eb3ee phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4dc35856-5915-4ac6-a596-d7701e1aebf4 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a6b7f710-c1e0-4b1e-bc46-addacf14e48f phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:97a412c6-30b2-4ed7-94ff-93b748f54b01 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4e615326-9fb9-4cdc-b199-d647dbc0d9a0 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e7852a40-c1b6-4b20-8437-6d7cdfb1a022 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:11c28861-f182-45b6-a1fd-24a25bcc0c6e phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a851674a-60dc-4681-8a70-ecb47a99cb5d phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6dee2ed7-36e6-4216-847b-ee431a336738 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2014e159-9ecd-4f74-b48e-77d21fbafb80 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0002132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6131fc02-2888-4462-b65e-f06e64e5657c phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2683f5d9-9e19-47d1-b728-daafcb6f5fa8 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:31894724-7c9b-4777-8df4-9792fa13afe9 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:afa89fbe-48d9-4b10-8d4e-9c60ad665437 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:f83e4b2c-c088-44de-b452-6aa1a86b63e8 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b62cedcc-a476-45f8-b558-2c0158176090 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:66091659-41ff-4d67-9cce-9fcea8f0066f phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bda479ea-52bc-4506-a5c0-641a7ab6d5e5 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:48909796-10a1-4076-b77c-849ad10b88bb phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ba0a11fb-0e9a-41e2-9e38-41f805d5b455 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4c232baf-c88e-40f1-8e0c-9f68e92b2028 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:0d259c91-3108-48f2-a93b-bd1be3ad5c3e phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:cb321697-000d-40ec-a319-401c59605289 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3636f622-2acf-4334-a4b4-5d7ebcef51fe phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3b471d43-0927-4c2b-bb49-342fb71bd96d phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:db5a977e-b5f4-438e-9506-a73a3950e234 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2225bb16-75d2-4bdc-9253-bed684baccaf phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:835bc68b-2d08-4ff6-a7be-45cd87e0e9b1 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:64da75b5-dcff-439d-9791-7ce04dc07abf phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5cd69c68-54bc-44e7-979a-fed94145f289 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:077e3ca0-7f5c-467a-90c8-0e53f0ea875b phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5eadf676-5d1f-4605-b7aa-0ea26630c54d phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8fa97708-fc11-4bb7-9fc7-50933a3149fe phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9436e0d6-cf2c-4f1c-a72e-fe95dee30566 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e7a95e28-dd9d-4ed0-8ef8-4a4c9085edbc phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:da8da263-8ff3-48d5-a029-c1327234e095 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c8def66c-60fb-423a-a2d3-38ded08a5d4f phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3c8e528d-cd26-4b5b-846d-e42a8b35ba58 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:02417836-e8b6-449d-be08-472d294f4661 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:8d90b5b8-97ca-4797-8c71-577e12777738 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ed63bc68-50b0-4d49-8bea-218b5a022126 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0007371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:df2773d4-4902-4c6a-9b51-ff6cd48074ae phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1a55932a-c846-4abb-9369-2ac1c3b9c224 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e55eef93-6ec6-459f-97bb-92e91eef86ce phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ed83dc02-99ac-4ee6-b9f0-912f634d1e08 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:dd553a3c-13c0-4d52-9cad-80a3029a27c8 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ebbdcc88-7a5e-4bfa-8c6e-4d1e6c3c6c6d phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c59caef6-5f01-4fdd-b77f-0ecfb7021f2d phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:13ab7f51-ccd4-403e-a2ba-b316a797a3bc phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:eb5b4f7c-8d92-4ade-be1d-b54f0996e05d phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9fa3c6fe-04dd-400a-ad00-6b3ae4a5f550 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:66de876b-8759-4c7e-bff9-511a9b975fa6 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:32ae094c-8218-4059-b441-6574059480f2 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7d6286ca-5866-402e-a0a4-162ace989a39 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4840d2e1-012a-44ee-8804-2874dd23ebce phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:fdc26442-fe01-4444-bf13-4397c13aad32 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:3e44b85a-c4f4-4f25-a14d-c2be842af375 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:da28146d-c36e-4bd5-9c09-8c929e1922d4 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:cde577b6-600e-4c66-9e3b-d3d6d345e118 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:fc8e2358-bfbd-4404-89d7-33fc71d63ffe phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2e661b2f-54d8-4974-8bc8-0f33b3c124a8 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:c4efbbba-832d-42ad-b60e-9e68139938f5 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:8415c663-0c6a-4bb3-a7b4-c7acd6dce0c2 phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:f00f1c49-b035-4cb3-b6d6-8a62e3df4585 phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6008855d-ce9b-4185-9dd3-dd11fbca35f5 phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:ba996de0-b8d3-4f63-9022-08009c210fb3 phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:55f6ea5d-1a3e-445a-8e09-98af24aaa9cd phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:2c1a94f5-0ca9-42e3-9380-bf9301af3d8f phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:9b1a58ef-3353-44ac-bb88-c53242e62eaa phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:332d4507-6c5e-45cb-b30e-a84724a0b32b phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:05b88a8f-9da1-4e26-877b-ccd9e6327d7e phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7bb1b8d9-baec-4331-a7a8-112c8c3df9ab phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:23c33726-eac5-46fe-bfcb-10b92a1560dd phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:e17abdb4-6236-4864-b490-bae403a6011f phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:180c7c92-f46e-4530-bf43-b8652b81e000 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:50164371-705c-47bf-80cb-ed6c985f9acb phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:333909e8-14fd-4ba0-9ba9-7c45f60faee3 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:b52d4e13-05c1-49ca-9cc9-b31f85066558 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:c880ca06-1bdd-43a7-ab47-c4c6901058b4 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:0994ad15-5c58-4be2-8c69-6243287c1c36 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e16042ae-822f-43b7-b748-13a171fe1cd0 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:6815d61d-45a9-4581-b1e4-abdd7a526304 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0002132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:a4315661-ad8d-4d6a-8976-f24a2a58d597 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e81ee2c0-2866-4ad0-83e0-0cb701e2339b phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:0a3ac2c0-6ac9-4e0c-9a28-b94da925ad55 phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:4efec689-ce45-4c16-9736-cc7f43ee76f6 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:41d0c7df-5cc0-4e56-8656-3e8097ce414b phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:4562a849-554e-400f-989b-c39c293558dd phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:bfcf33b0-72ee-488c-96e9-a6e88319052c phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:383fd3f8-6890-4c73-8766-b4255b96c1c3 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0030283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:55a5f080-66bd-4826-9905-be76ad33581d phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:50f07c9b-2783-422e-88fd-74f531de7320 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0000573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e66acf0f-8d12-42a8-8539-96dce22fc555 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:e2317b49-50ba-4a02-8c57-346ffa31420c phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0002324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:be40ee0c-5510-4bd8-a0b8-c5285c8a2a97 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5d88252c-60d2-4f4e-af86-983a9931b67e phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:05c2a7f7-3b3c-45c6-a2a3-fadeb6e8216e phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:7f1f6c59-183b-45ed-827a-22bc6127f1b2 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:35031e53-2c41-48ff-80ef-db179cd78aaf phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:5c9d08cc-6531-4869-9dfb-ae85c6f53f50 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:1c6bd3cf-2bc6-4943-87a4-4fe066dc26f1 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0012447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:3e812d2e-1ef5-4aac-adde-f29b70221114 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36996813 uuid:ef612f46-a973-412a-8e75-3541f826a5e8 phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:ffa04db3-80ee-46e4-a6c8-cdd76bb3cffa phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:ad7e3cde-eead-42bd-afce-90913afe29d5 phenopacket.store:ESAM.PMID_36996813_Individual_KCHYD24-1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36996813 uuid:113e1a79-d61e-459c-ba06-b20c9d16f802 phenopacket.store:ESAM.PMID_36996813_Individual_KCHYD24-1 biolink:has_disease OMIM:620371 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:d70a78e6-d258-4b25-ae25-7522c1f57fe0 phenopacket.store:ESAM.PMID_36996813_Individual_KCHYD24-1 biolink:has_gene HGNC:17474 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36996813 uuid:b58e12d9-274a-460a-8728-56d4244a86a5 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28132690 uuid:f41b1613-bdc6-49ea-b979-f9fc22dbc999 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28132690 uuid:2342633b-273c-42a0-a011-f3aa5a72df90 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:cec7e6e6-76ea-4a80-a227-7038ae0c685e phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:a7fa9a50-98c1-46cb-afe2-9a3d54a0a5dc phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:088e8ec9-8b26-4f19-a1f8-406347714577 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:dd96ec86-ac42-4381-aed3-5eff5fee1237 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0003090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:9adbdba2-9af0-46fc-962b-ec2dafa9e87a phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:80d593d7-3154-4591-b0d9-2475ae273cba phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:80e5fef4-74f6-41d5-906f-55a4271f9195 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:fe547759-563f-452d-9df5-bf76e7f66ac1 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:3b57e36f-6367-47df-b0e4-395b253a23ab phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:66ce7707-b6f1-4ad2-8c1c-eda2272d0355 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:75ffb04f-53cb-4dad-91d0-cff826f503a8 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:02292d88-8757-4b9c-82c0-bf39fb89403c phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:659b2d09-18bb-434e-8a14-a94f4c61d042 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:6111d784-14c2-47b0-9acf-cc2caf8ac8b3 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:52791798-e736-4338-8945-f604eea237bd phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0005562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:51bed36a-2715-4c40-a2df-a687ed76540a phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:4f6ba5b4-5142-4f69-8d9e-8c0e02342aa1 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:fd3792a4-a844-4a3f-8f81-517a825e3401 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:ed6081a7-634e-4325-a33f-3abf884e4b20 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:28132690 uuid:d13a8625-50ad-4c2f-ac98-b1b03d44b083 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:b63f74c1-8a0f-4735-8e17-4f9b2e4795c7 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:0fbe7264-a3a5-44df-9a44-a210702f2bd4 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:0f8081ea-2d49-4b66-a3f5-7b4261011eac phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0003090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:5fedc335-b90e-4a0a-a1f3-6c8c61b9bebd phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:9af6f506-6cfa-4e04-8d2c-926416c25d0f phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:49f5b96d-c3f9-45f0-a7ca-12346b5092ea phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:4e547953-74bc-4114-ba8f-5f848d1419f7 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:2853970b-94d4-435a-9418-d740b4d88629 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:9cbcfeb7-2a62-4197-afc9-08aec7a4ef17 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:28132690 uuid:fb63c82d-d2e5-4ea8-9c18-7cd5ba03f4dd phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:43f848c0-106d-4931-9d32-8d6ba80176b2 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:0bc6e7c5-580a-4651-990c-4d6bdc0660f7 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:96237731-2feb-479b-90e7-9667b14369da phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:834948d2-034d-488f-a4db-5c995f17d25c phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:b3cab032-9b89-45e8-a561-03e85674fae7 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:154d4566-db48-4f2f-82b4-4b7b682fa1c0 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0005619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:697171b8-28e9-4add-9c73-ca6242ad2dd8 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0008445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:2360fa21-b405-4880-a68f-8c8bbe844bf4 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0002176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:185bb230-ada7-4d25-a542-96df2aeb4937 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:ec7f574f-2e08-4fda-9b21-1efb7a4fb08a phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:03abd4d3-aceb-4533-bc85-4772544af7d5 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:7ae1ac78-b45d-4bf7-b6ec-ed7955b4b063 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:8ad919fc-701b-483e-8479-6ff0c5ac83f8 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:60431bbe-f958-4a8f-b60b-05cdc98befe8 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0100865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:c80ab518-8051-498d-8ed8-8ec141ed83d4 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:67fdc49a-e80f-4546-8b0b-da03fcc8a3f6 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0003016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:497f893e-58ca-43a3-828f-3e62b87f041f phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:d9fe6680-06c7-427e-b5fe-0fa5f82c8b43 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:cffefee6-76d9-44fa-be87-4a7c6b2e777f phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:cb5cf1fb-0acf-4b5b-b78c-2748ddaf5634 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:6dc72f52-4140-46e1-a3ed-543f063d005b phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0004060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:9c5dbbb3-90bf-4347-8afd-ef0a85646a4a phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:a699cfb7-0ff9-4bee-9161-c2d2e7fc7a03 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:e3e756b4-de87-4d1c-aaf2-82030351095f phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:d59f5ef9-786f-4710-8cf6-ea7c6527a931 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P8M14D infores:phenopacket-store PMID:28331220 uuid:b9ea9d84-f85c-49ed-9acd-29a2f1323bb3 phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28331220 uuid:ca36c440-5c90-45fc-ba54-54802a44cfb2 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:0a8f62c2-ae14-431b-8065-e12261287a02 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:39e92945-2ad1-4920-ad92-a3d1400ff692 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:b48229bf-fa72-4f4c-828b-e70a98f8d05a phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:12de7ea0-3998-43c7-9492-c6c4e60217d0 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:fa9caa84-9732-4117-a157-be3a24f007ff phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:a22dfaf2-a5c0-4ead-894e-1926c1c0bd3c phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:7a02bf62-959b-4d80-bfb0-2e3e6013a9cf phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:f8a9a121-89e0-450b-8992-d19f8d5166e7 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:ca603a41-f87f-4671-beec-377240402900 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:1ace0624-1394-47d1-9677-13cf3e9ac507 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:16a3d0af-72e4-4963-b3b8-6b4c0da658db phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:785f7a15-c14f-499b-8336-d672cdaf89e5 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:8640f433-32f7-480c-b35b-5cf3e98a21a1 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:0dbf5ffa-f7e0-4b12-a32d-152660b0019c phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:28132690 uuid:264d950e-3815-4b60-b2f8-9b66aec9bf54 phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:6b8a708b-5a9b-41e9-a3a6-b4960d04d5ae phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:28132690 uuid:4d2b3d11-e71a-4d8f-a4ba-3a2ba9ac1164 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:28132690 uuid:a02614f6-e78c-4235-8cd2-296d0c539c71 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:e29a3261-75c3-4377-b073-608dd7df9e3e phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:31372e9b-4b55-4c2b-8cb1-8947bf059c9c phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:fe2ea6e3-88be-492a-adf2-dd27115d2530 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:ec36c8f3-035f-4624-8abd-f0b4908c4547 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:3b3f83bc-b208-40fb-b472-9484852a58e4 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:5adc68dd-915a-4d47-b819-df5815f80921 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:f42a0c01-b77f-4663-9809-1bba522d7ce0 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:8ebde856-441d-4e1a-97c7-f274ce793626 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:89101016-1618-4f4f-8984-63be5e4125ef phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:3a67b625-f858-4b96-bd91-845d538118aa phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:73da9cbb-295a-493a-8026-d48fed490cf3 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:613ad897-5653-4ecb-b9fc-c8cbdc87d3ff phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:e47b02e8-67c4-482e-86e7-f01da456465c phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:ad5a5edf-2507-4012-ba6e-4106fd59fbe0 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:28132690 uuid:9982c636-c67b-46c4-b9e9-e8cf23cb6602 phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:9944cbb4-0b7e-4c62-91c7-b641ae702342 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:9e4ed9a4-392b-4fd7-ac3a-c9a9dc2a802d phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0003090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:e0fffb1c-7eac-4d48-a3b1-ff0586cde2e1 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:080339c1-2fcf-4468-ac0a-c46a3f90cc71 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:5148e0f6-a460-4895-9cfd-a8c050e6f93a phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:9686fd6e-7c67-4181-b1c1-b82f60d2bfb4 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:4b4844cf-07a6-4b8a-a4ef-9a3543125de9 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:40b803d9-fc4a-4d17-b040-59fd3b46e72a phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:4586b243-3d82-4ea8-b75e-e5960ca94ecb phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:28132690 uuid:1429e1c7-428e-4f76-bb4b-90ba516f34f7 phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:ee4e931a-df37-408d-a0f7-afc7827daa8c phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:2bc9f906-2508-477a-b945-721abcf2df58 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0034374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:382c6e54-ede6-4eb3-b441-711ea113bc03 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0008445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:b19cfca8-8a1f-4a0d-8fbb-8ec18d6557f7 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:59f7ba03-7714-47d0-b939-ed526cbaa0cd phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:1b483262-ccb2-41d6-9381-321205dc9b00 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:7ee2d51b-deb9-450f-8912-30bfcc7b5e75 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a8a3c640-995b-4cbc-a760-9c4afcd882ef phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:5dc52581-862b-44c5-b1cc-7797b31f3239 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:14fcdf7e-9a03-48cb-98c2-412d6d8bb130 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:9f7d61a8-e05d-485e-bbf7-ebfcdf78e846 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0025116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a0b86a89-e98d-4a1a-9ac6-7c42c101c2a7 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0030320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:ea70d92c-5634-44bb-9d38-0503a5eb13de phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:4c219974-1722-4a85-b26b-69489178bd27 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:e7c839d8-55c9-4c3b-ad3c-75ed961ca075 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:b2279197-6eaa-4e73-a1a0-4472707ba2c8 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:daee0f60-2527-41c0-af62-ca7344a920c2 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:83ad2031-93f1-41ff-b0ee-13cb20f80176 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:8912ad2e-26d0-4a31-bcdf-25e4b614c679 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:d79965f8-2854-4536-b09e-7520798aafe3 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:ae885b38-e08f-4e0c-92b0-701fa95efa4d phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:4c71d750-b53a-4ebd-8761-aad0fc76b975 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:5222aa89-a373-488c-be5a-570749eabb75 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:0f6b3116-59d4-426f-9ffb-02b0d9f399ba phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:4e5cce43-43b8-435f-912d-03e58afb3e60 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0004894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:5073ddc1-39f7-4748-add6-8a8fc1c4ce35 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:37550a4d-c7cc-48b0-882e-c7361df328c5 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:9c17daae-5fad-4d35-a8c5-41b70873ae99 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:7b7479ad-d654-4cf4-80bb-580a3e2e640b phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:8326dc51-7aee-4cfc-93e5-0f239550340b phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0010605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:33f28ad7-2c09-4253-8a95-5028d1e27f83 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:fdc3181c-90e3-48c7-be2e-aa2c1c3094d4 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:55c1fe5f-c751-4ff4-9f2a-1823c2bd3e49 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:d6e4068e-b2a5-49a7-bafc-86c6a0c632bb phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:ce22a95f-8040-412f-9718-fdb03ce981fe phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:a6dae5ab-a019-4eb4-999b-27b5776d6a67 phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_phenotype HP:0004566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:60193421-ce32-4be9-8805-f3d032810f4d phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28148688 uuid:79c4807a-ce51-496a-b954-3ea11f7d16bf phenopacket.store:EXTL3.PMID_28148688_P2 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28148688 uuid:a641f9c3-c83e-4487-a2ef-ff75ee8f435c phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:7ea8ca21-3a48-40d3-84b0-bdeb3f1c5753 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0034374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:92d3a24b-80fa-4f07-a020-c2182fe19ec4 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0008445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:faad0803-f0c7-4c9e-8103-0481a3390ee3 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:1d7a70f0-149c-4e75-9148-ff2d66fac356 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0004894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:da03cae6-83e1-4bb9-a141-672f9c1879f9 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:dd7c281c-8860-4afa-bbbd-a419858617fc phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:e81149ef-f754-4b5c-8626-b02a9dad8958 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28148688 uuid:3e4f2550-d62d-4fa1-b84d-89a5fee67a44 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28148688 uuid:a9aafbef-e6f2-41c4-add1-d84da7ca3fb3 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28148688 uuid:724e2951-9dfb-4d38-92e0-34aa6f832614 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28148688 uuid:8da254d1-58b4-4ebd-a444-e870380c110b phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28148688 uuid:1890f948-fde7-4a94-919b-9a1312011be3 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:c9192840-c6eb-4612-ab48-6ec5f37b3486 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0025116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:8da823e3-374a-4416-9471-4cd17d609260 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:bdca677f-1dce-4e37-89c6-8803caa8b90c phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:d72c2d94-a257-4df5-8d41-d3b7b11558b1 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:6341a943-201b-4f92-8ded-91a8048644ac phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0005619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:99b93157-b1b0-452e-96f0-1af12f54b1fd phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:7b0065b3-5f92-4187-a42d-b3f4eca9e28d phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:7ab7610a-ebdd-4f50-b54a-a1eb72d0b542 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a1a021ad-7656-4437-a940-d80641f7bd76 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0030320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a3be15de-0c5d-4082-adac-245ab46d1018 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:43db8792-7c91-45b5-a6de-57536c65ca12 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:a73f4c54-82ab-4a89-be3a-83a3250b4748 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:0a57c5f8-3d5f-430b-8e6c-4cfa43981ed8 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:de209f6e-cf7a-4ece-b647-2c74eabdcab0 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:766d7e95-24ab-4dfe-b427-06bb85fd359a phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:8e390140-33ef-4e1e-871f-20686089f8df phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:ab5f3d64-43fa-42e6-8aca-ecaa1e6690d1 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:db9fcfd6-d0ea-45e9-ad3a-bca88a6fc015 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:a5ba3820-dde6-4e29-ad7d-5d1e40270dcc phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:1cd18e4a-a18c-4e7e-8140-a61eefbfebe1 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:ab6b3d0a-f14a-4234-9b74-18dd09b7f260 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:38b9f73c-cc8f-4126-bd18-df0824f1cc9a phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0010605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:d980ef8c-53b6-4fe5-a145-f3ffdf7e9131 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:90437e9d-6d6c-43cb-9297-d33d1f39a45b phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:cee968c7-64b4-49de-98b6-aa169d59411f phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:12da7022-f26b-4f5c-aa0d-0a2980c4e890 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:2d4bc267-2ac0-454b-9f40-b77d214809e1 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:94a95f6d-db2c-4298-a33e-532e115bbad7 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0004566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:57f6aaa6-1a29-4082-91ec-d42a91384647 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:ea152b70-7af6-4991-8475-5d73290fb399 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:0a07aba1-47b3-44bc-84bf-dd1723e3476b phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28148688 uuid:2768dd3e-0d13-4bd1-a6e2-3eafd9039cc4 phenopacket.store:EXTL3.PMID_28148688_P1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28148688 uuid:ca32d36c-0096-4cd3-8ab7-fcc38f2c630d phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:e6a09055-085b-434f-93fd-53eb87535159 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:b82b10db-f93a-44be-8c0b-ca70c2932daf phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:e1161bab-1dd5-4494-a335-0f4f97c22d3e phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0034374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:1081ee96-e23b-4038-a16c-73ccbfa90a14 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:8fcb4af8-070d-45d6-a1d6-f0c350fa9dd5 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:c776355d-8546-4fe2-aaad-159150278ecd phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:c1b75a1c-1bd9-4870-929d-1fe0585a9371 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:8705d739-d543-4b4a-8735-f4894bf688a1 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a1f390a7-c39a-4f8b-b26f-7d4dfb80cbe9 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:b79dda25-9ad5-430b-9806-b2396a96c7af phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:7f2b41f4-bc5b-459b-a352-78403a13d433 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:96f6b054-746f-4248-8383-af62fe43e16f phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28148688 uuid:0e948e92-4e8e-4a26-8d61-07996ad0a18d phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0008445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28148688 uuid:323ef359-b2d5-47b1-94f8-d0c2fff5c14a phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28148688 uuid:4ad770b4-0e62-4e85-90be-00cfeb65e77a phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0005619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28148688 uuid:3b0e9be0-f28c-479f-81f0-80b151c07f5b phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a5dd02d6-9b1a-4a10-8bd1-959a2258225a phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:53486ef5-f1d7-46cb-bfe0-52d286b6a7b5 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:ef4e522c-577e-4bab-96e3-a5a4e9eef0af phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0030320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:c48d23ea-b133-456a-9115-a52d780e3d5f phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:a895cc73-e9ed-4e41-93da-30985f1f7dc3 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0010605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:96df5ebc-9ffa-4d5b-b0b5-b42288e93867 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:5928a5bb-92b9-4070-add3-1cf57a7dd513 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:441dd6e6-f81f-45fc-8d5c-8778c75b4b82 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:72a0500d-0484-4b7d-b37c-881e023625fa phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:cc27fd48-6b89-4e5a-a4b6-ee543fe230bb phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:d1cc76f9-f8fb-42e8-af46-9bec550d592a phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0004566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:435bbab9-ba21-4f88-90c1-515b3ff9a62f phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148688 uuid:116efb97-9765-4552-a337-c5437861e49d phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:0544c1a8-1b4b-4af3-99ce-a28cd965880f phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:64d654e2-12c5-488a-af6c-abce42595787 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:f05f2cc8-272b-4e89-8cb1-ca1cc2efb3a3 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:9c4525e1-5f63-4154-9e1e-2a4d0ff82a69 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:b90fcf8b-0db1-48ae-baa4-83bf5ee6cf04 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0025116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:3ca896c2-4072-41e2-bd39-15ea04be18c5 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0004894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:fa820790-d7f9-4e32-ae56-11a4de1ff5a8 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:44c33c02-8184-403d-8b74-06645586ddf5 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:9a5b618c-3d04-4f8b-b921-b367c25fe553 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:2a91566c-7f79-4930-a560-8d6b2d6f488d phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148688 uuid:869dbba1-e794-4251-b9b7-cf406bc82815 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28148688 uuid:51508061-a46f-4e7e-9de6-843c800589c1 phenopacket.store:EXTL3.PMID_28148688_P3 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28148688 uuid:6b1d5a9e-8c67-45d2-8022-8a5b3da0a64b phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:c16f9b47-dd34-48d7-82f3-96736c4d9fc1 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:8820c70d-c5e6-427b-a84d-f15d15a4ee25 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:11246293-e64d-45f6-b030-2a45c68ae3e7 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:141f991d-415a-483a-a044-ba71d7d92d5b phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:9b0a546e-4817-41b8-be03-106d5523f1c9 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:42127cbc-baf9-42be-b92b-976d1b36fbd2 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0005562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:b7e1d172-feb3-45fd-a6c7-986f1fe74032 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:c189fe2d-d209-4a40-9c10-477de1b8f257 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:c9cc8b47-05f7-478b-b447-6acfa906a9ad phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:fc003c68-df46-4641-9140-64550bb9c040 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:913a79ae-fc98-4bd7-9e40-f65bbb0db4d9 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:afb7351b-83a5-4040-81be-fe317f1b15be phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:980879f9-6833-46ff-b891-a3dafa46a300 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:280d49e0-fbf9-4986-9f51-cea0f2bf5daf phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:1724ba35-abbb-470d-8976-931de234bcc4 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:1e963bb5-9b20-4a89-99b3-edea3e8017f3 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:77a895f4-41e6-4a5b-bbed-eb0d3e54d6db phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P1M4D infores:phenopacket-store PMID:28132690 uuid:f55bb571-9961-4127-ba3e-9beed9830ea7 phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:e84b5a50-9795-409a-a453-d19897c4c83c phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0008445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:d28d4b28-6991-483f-bd69-d3adc461a875 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0002176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:1a04689a-d577-48bc-808d-9abac72dcc38 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:4b2e60e6-d8b5-474b-8fe7-eecbcc5b0bc5 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:f66e5868-7fdc-4c3e-a309-dc11a0a18ccf phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0005619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:4fd2e46f-1032-4775-92d1-e875de747e62 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:3339ff26-c107-49a1-8c33-783dd451ecb2 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:756d9b33-72ff-4aee-806e-b7c5d04382c2 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:02b4c9b2-80bd-4e5b-b824-0f9112bc8b1f phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28331220 uuid:8bd3f02f-c0f3-4d20-8fdb-815797f9239a phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28331220 uuid:6a0271bd-0fc6-49a2-80ea-457d4888d618 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28331220 uuid:5756474d-78a2-44b0-8f5f-407623653d61 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28331220 uuid:fad4a32d-c0ba-4902-a896-011d92061411 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28331220 uuid:4e5a6947-7eb0-427c-9873-66ebb177dfd2 phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28331220 uuid:5aba1630-994f-4787-a33e-2c80a2e017dd phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:1f03b51d-e05e-4f15-ae62-6eeb694e6af4 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0003090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:9781f009-5700-47e9-93b2-f5aa5d0c5662 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:e2c456ff-2e6f-429b-82ac-0e1360230053 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:82b98dcc-cfca-4ad5-9297-5dafc5cc3d65 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:87822b21-a8d4-4357-b00c-09c76ad0ca60 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:2715a840-9a58-4cbc-8bfa-bc0c14c3c195 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:22625e7e-8676-4a33-a271-4ac751f84953 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:637ef159-abf3-4b6e-90bd-ecfc9be52778 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:073dabab-7a5e-48ed-88ba-2e6178bf57e8 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:8056ed67-7624-4c71-adb4-cb4eae414018 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:7f3f1bdc-3897-48f4-94c1-b70663581450 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:258a1136-3d43-4cd5-98f5-ad66156ec055 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:28132690 uuid:0e561f09-774c-47a0-b202-9f09bd9e82c0 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:b99beec0-c9c0-4e2f-8dd6-5608c00111f3 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:5f0ac371-2fbf-4513-86ed-c4c9cb975c59 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:54a0e99c-3dd9-470f-bf6a-a48208817079 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:7e465f09-75b3-4d31-9aef-99aa12e3eafa phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:7f4116ff-b991-445c-9305-39747485f44b phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:099842c6-1b31-401c-99b2-a1476f23385a phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:d4621e1c-e841-4bba-82a4-38e6c181b9d7 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:399c87b4-4915-4b46-a6cd-7fb709ca28d4 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:3585b66d-8005-4bac-b259-de8653d097df phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:4ef1972d-a9d7-4aef-9a06-b5bea7f43074 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:b5f11b91-d27b-49fc-8410-a31fb3256bb4 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:cb9ff65e-4ed9-46bc-b97d-7ba8316c2c23 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:6ef7449a-8e9a-476b-b688-64612e0f2e85 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:53805798-dca6-429e-a867-e1d2291834c4 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:28132690 uuid:765e01d5-e188-483a-b4f9-ef808c3c8d79 phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:068da435-0e7b-4f99-95ed-e0bbc4e7ba95 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:68223692-211c-4583-99dd-9f520f74b123 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:67892ec0-7b3c-4029-b445-3f3083448812 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0003090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:d65f9c19-b922-4b67-bbf0-ed4f9d813f0e phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:a903a025-0b2d-4093-99fd-e07877af5a9b phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:420a1366-e66d-4183-a65d-984a77c4d5f4 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:7e2f7016-25a9-453f-ab24-e3ddbb7d19f8 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:c60091e6-e07d-4d30-8a2c-acc07704b178 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132690 uuid:dd318d98-fcfe-4a33-81e7-e27e58a5ff56 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:027265fe-31a2-40e6-82df-adb28dd7248e phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:a94e690e-8bc2-4af9-a0e5-6e43a204aff9 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:5fe9a010-953e-42b4-8c3d-154cd982ca5b phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:98829b32-3cfe-4cb0-8b6a-73e74e161e7d phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_phenotype HP:0005352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132690 uuid:47cad24b-6113-4993-908c-7e287679ef6a phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_disease OMIM:617425 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:28132690 uuid:e4a6b260-d4b6-48e1-b12f-56380ca48b37 phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:has_gene HGNC:3518 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132690 uuid:57221f69-459a-48d9-80e4-7d2243b735f7 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:425df89f-2af0-4ce6-bdbd-c373adf49cb9 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:13c23cea-4b2d-4383-bb83-23526b6a9cea phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6dfb761a-b049-4b9e-b943-f985d65e0233 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:89174e26-375e-4540-a386-8cb4596d5db4 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ddf116ba-6ea0-4c49-b5b4-323dcd758067 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:16bb8598-62d0-4fa7-8fd7-98e56c1653e1 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:532681a9-2bdf-43a7-a459-6146b7932db5 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:2a5d523b-cc20-4743-bdda-fc688c55a51c phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:60e1ea35-9cb4-4584-9096-7c86308dd936 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c8b40d0c-3a6a-4990-b574-7473bf74b664 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3d11382a-31f7-4e3d-a66c-d3b8b8592cac phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:814975aa-b316-4ed7-9029-2426a032eab1 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7a8364a1-b06c-48fc-8c82-1f503a6a14df phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a268223f-edf7-46dc-8de1-f2e6f119d0ce phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:0d596487-a94d-408d-995f-0e7d206bf8c1 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a055e2f4-e61f-470a-a1d9-89410ab25eec phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:acb6f53b-6f8d-4965-87b2-ad7279df7b92 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:59e5a432-b6b5-4db7-91a3-582c92bfc225 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:9823e6e5-6da1-4bf6-b6c2-f161dedfc5ef phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:cba2f413-a991-4176-8591-4a46eee2f73c phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:7fd415b0-badb-49af-b805-dac200c375c6 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:d403524d-525c-4812-ac69-89c23f1a6cbd phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:f04740de-37f1-4e4f-a15a-01fc942d32ce phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:63b72567-52fd-4386-9e5b-e5d15cc45a41 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:befeb716-00ad-42fe-96ef-7afe696e9e68 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:58aced5e-f79a-403d-acc3-6397db613f52 phenopacket.store:EZH1.PMID_37433783_P10 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:f2b9ac66-5f2a-48c2-a2e2-2698c28988ef phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:77df7bb4-b32f-49ff-9622-f2bcffa0aa41 phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ee0d1ee1-8fc5-4378-adcb-2b503c9bc178 phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ae0dc8c8-6f02-48bf-8a7f-4e66bbfe4041 phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:42aafcae-e288-4aae-945b-f06e25782668 phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5ba77d3e-ca26-4d65-b6b8-6cea47b3f855 phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:21fd36de-504f-4001-bc35-e3c479e8ae5f phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:db79e448-a389-4e92-9d3f-6fbfe3d9b11b phenopacket.store:EZH1.PMID_37433783_P2 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:7bad85f4-6599-43f6-bda4-2ef70cbb5723 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:31908e14-25d8-4b55-a4cf-7ee62a32f195 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0005281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:8c51ad05-9d8e-4101-9875-8b8b11fdf013 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:dbfa61c6-3a80-4a44-8882-98a26aa64e59 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:99603206-938b-4dd5-a464-9ec7f19618c3 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:8b6320c2-851e-4fb8-b9b2-ec4420ad668a phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7a7dc7ea-44f5-4898-9a1b-2c1834424a58 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7c47879b-86d0-4b42-893a-36371f2138d0 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:559625c6-e79c-40c8-847d-f1a4c963152c phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:89d714c0-bef8-42f9-a421-7365604bf5fc phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a84f9869-9af3-4849-bb91-649eda77b660 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:a25c2dc6-13d7-42a6-9ac6-365d1ccf450b phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:d07aefbc-07fb-4064-afb3-7ace4d20baaf phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:3e94ca2a-1fca-49cd-b199-bfacd97ea586 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:a557d5df-30c1-4640-a3d8-f5a694f830fd phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:ffed7c28-d05d-486a-b8f6-ed39c76b97f8 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:9447aa9f-f4e2-4175-ab0a-bdf7a25cc515 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:9463784a-fd48-4589-886f-c2127b21d1cf phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:30efec59-2894-44ba-9e23-b651495b5a8d phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:05c0c7ac-f4df-40d2-a380-b6e9cd266b94 phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e850903e-58ed-489c-b9a5-043c2d7a8f5e phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:3e6aa7d5-58b1-4ee1-a58c-79f4bebff4dc phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5cfddd85-7b8f-427f-881e-ede4348cf41c phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:dddde9ab-5c12-4355-abc2-d33a0e177efa phenopacket.store:EZH1.PMID_37433783_P7 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:a9898b0b-67c6-46db-a217-c24c5915c601 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:0a08f085-b88c-463b-beb0-75dd141bfa73 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c51cba31-fdc4-4735-83c8-9d13813170ea phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0002979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b2496268-2f09-4688-90d1-4bdd928202bf phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d98c9117-ed7b-477a-a853-552b804fe737 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6bf84696-c610-4312-b0ec-06208291ffa3 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d81ad57a-beb9-4f77-a5c7-c0e69f92f707 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:71c3134f-6567-4340-8e29-6d5cd37222d7 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:67fd2586-b66e-42a2-93ab-216cfbb98a8a phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e354a1f0-c640-4391-9d41-645972f5c97e phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:f86ad261-fa16-4ad8-97c4-773e507b5f74 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:d1dd8be0-3a0b-4cb6-bb0a-b3b554612d23 phenopacket.store:EZH1.PMID_37433783_P14 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:ada052ac-e837-4b33-ba9f-028ea5175e0e phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:111032c7-1019-4621-a347-735e1ba9795b phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:1af87238-b23e-4481-b03b-29edf31851f1 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:69df66af-00fc-454d-a049-7bfd724d5046 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6485efcd-77d4-4fdf-b743-794f08c9c447 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a3e88aa7-79f1-4d60-80d7-6a862ff76fc8 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:f15a528c-70a7-4ed9-b1b7-398d3cc64b20 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:87f40c49-b4be-4ee4-a558-1b05a736e48b phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0012117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:216d86c7-01b5-46d2-952b-db83eb13f8bf phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:acbaa64b-14ba-48ce-bcf5-e4da54603849 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5133196a-0056-4a04-886e-e748b4f1b24e phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e4f197d4-a0a6-401d-a6b7-347d0eeafd85 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:3a49c93d-995d-4bfc-b14a-72b2224c1f62 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:045c299b-846b-4a78-a2d0-2f7e99d694c2 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:a7e91539-5514-4faa-a40d-3be52a1d78e0 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:c75d7256-8a0d-4af8-8191-a9ac20d53919 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:027c4d2d-6d65-4894-af54-59bd21f0e45f phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b3a13efa-9fa7-425c-a465-4f7b5af10dbd phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6e8ef290-3c46-4e79-bc13-a8b8268f3769 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e2ec0ad0-81c8-4728-bf5f-f66a7e49d034 phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e9ec5b59-92ec-4343-9c41-f9947793fafa phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:d97a557e-d0f6-4c14-a2af-1fdf49f7170a phenopacket.store:EZH1.PMID_37433783_P12 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:07822568-fc67-4c96-8a48-f747ab4d192b phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:f5654e09-cddd-4dc4-ba44-d4852b63e0f4 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5c0dccd5-199e-43cd-b319-05d85739036c phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c25a2aa9-4b9d-4bcc-a0d9-75c0fc38a9c4 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7241cd04-cb51-4909-b8b9-161fa634a6f4 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:1e039938-22e1-4d20-8274-8feeaccab8b6 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:33476139-1cf6-4e37-a7aa-bca17727e293 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:903240cc-4be5-44de-ae6a-5e59bc6a59af phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4da73e1c-19c4-4b64-9fde-0d4939d01f2e phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d937a828-0e9e-4d78-974d-0ba4fc55d610 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:317335d8-a954-4487-806f-476deef6c6ea phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:15bb4f1d-ec1e-4203-b4cb-66b0c4c8c08e phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:ebf895eb-f2d1-436f-84e4-394c12bc7e28 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:f964049e-53ab-45aa-998a-d2913792e039 phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e6cb4c28-5404-405f-8f8b-1254cdd882bf phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:425ae392-b914-49b7-beff-5f12f5c33f1b phenopacket.store:EZH1.PMID_37433783_P19 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:e99ea4e9-23ef-4620-a598-93f74d8f2578 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:eea2f98d-181e-4bea-b1fc-6572fa82a4a3 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:82100e6f-6eb9-44bc-9773-53f06a1f0be6 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4c009117-2470-4fc2-b175-4b20065a15d6 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b46f573c-7d8b-4c4f-871e-994c730e2753 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:cca232e7-1d14-4cb0-8983-0e9cbc3b09d1 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:1c81e1d5-5fb3-4479-9cca-2444e88ca4d1 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:95f918e5-fc4d-4429-8571-ef89087be2f5 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bc1234b8-d6cd-4d86-bed3-a28431d704c7 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c9c7e6b4-c094-46c8-940d-47d3177d51c6 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4589588a-3bef-441c-be80-0433351f1a1c phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:99047f83-182b-4b55-a725-c061efc393de phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4bcc1190-64d0-442d-8726-f5c3add0fb14 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:0ff9a5ef-0d9a-4e1e-bffe-738b15d0266c phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b1a9bf3f-ea0f-4918-aa5f-87c8d9d705dc phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:355146e7-073f-42d5-b261-0ae231f59a93 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5758e48a-d758-4967-8cbe-17fd579135ad phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4d0946c0-8460-434e-84cf-090d74b077dd phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:68cd66da-9862-423a-bb7a-b659ddf06982 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7625b0c1-7d2b-4770-be7a-07cba96564b3 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:15c93c13-225e-401e-83a5-bd8d5741223d phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:99027cba-115d-4c58-aec1-241061cecc92 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:69a5c590-c872-4ac2-a67b-010015845b41 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d75d92a0-3869-40cb-a87c-21afed13beaa phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6fec48e9-d3a1-425e-bc7c-825813ab6fd5 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:9d7d3a5b-c84b-44d9-8511-2eb4483e216f phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0100842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d3e273a5-9a4e-41b6-bde9-ed02fb62f18a phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:115bd49d-3817-4b10-89f2-642c327cce21 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b183004c-fa41-4f09-b008-b8a3095b8b0e phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:96438de0-9156-4102-9202-4cd1480d7aff phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e376daee-e50e-473d-809b-53b3a46132c8 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:9775bd39-d4e1-4e7d-92e6-015c72229f28 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:424ab90e-3b62-4502-bf09-824aa7d080f8 phenopacket.store:EZH1.PMID_37433783_P9 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:64bfd85a-d1b2-4ad0-a528-f67dbead0801 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6b0e3326-c0a8-4130-b9a5-14c4e6f7bd0e phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3a74ce17-d922-46b2-a671-c955cc261e07 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:74123649-fb6f-4d4a-bba7-8b4123e21090 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:fe82208b-c08a-4e80-a3e4-96c36a24dc12 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:adb568b3-eb3d-40b2-adc6-680950117cf5 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3cfe6d67-7cbd-4a67-b81c-67f0cc879dcd phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6ee04fbe-86ed-4b84-ad1a-2e52db4e3c4a phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3d0e38c5-9f81-4751-863f-1260162527fd phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:f2aa4b96-f6d6-456c-bd61-d54c8f5e39eb phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:869f5107-758e-46dd-a997-ada237768b97 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:1cc641c5-ee9a-4c96-b925-78f167f4a36a phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c29b1cd5-20f6-4283-a614-0cd928b75c96 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ab1c25cf-0cdb-4ba8-9bfb-e986178df891 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:00ccc2a5-ba8f-43c7-8b3c-96bcfc3b8f7f phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:7609fcd7-7b38-405b-873a-7c408bbe2c64 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:345edd25-18c2-41cb-a434-df301704cdb1 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:dce2e135-4291-4597-a113-967a6bd6990c phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:caa2c64c-e7b5-4960-9267-da5dbf2b2d72 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5abf0b77-a623-4243-a55c-c512f1870052 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:51444c09-e51d-44d6-973c-2a18e64605ba phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:0008fbfb-9f3e-4659-88c8-e467b2f76c76 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:66d7aa0c-3c28-45b6-815b-aa1ebe91f983 phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:bbbc7b19-2366-4dd7-a2a8-1101d49b804a phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b01d3616-d673-47e9-92f0-3285b9a7a20d phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:57df0f7d-f6c6-4866-b6fc-996997525fab phenopacket.store:EZH1.PMID_37433783_P11 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:fc9bc941-10ac-4ff3-886c-c203608c3b52 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bd0eb03c-8419-4f2a-8045-cd731170fd51 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:574d653a-5ae9-4cb1-912f-5639a56d299f phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:9ae49346-9ba3-456e-b3b0-122c81960af9 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a03601bf-4349-404f-aad3-c36c34c453e5 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:19f741b1-2f2e-47d7-8a1e-a827217eec64 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:de377f37-a85a-43fe-a85b-7c3518aa38c8 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:cdc188fa-0c0d-4087-807e-c7885775a3ba phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:25835d89-abdd-49f4-93d7-65e43f96b2a6 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:634d91c4-ced9-44f1-aa4e-287706a97307 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d3ac542f-7e19-4665-b9ec-dfc779119fa3 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d1aecf0f-905c-4f76-8c4a-1b4fdf599951 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:1a24f565-46f2-42f3-854d-cdfe9247ee3d phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:86e90f30-a468-4fb9-ac64-9b0c6c1b4a2d phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b3a4ac29-4611-4cfb-ac05-64d4a3addad1 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ad70d0f4-2704-466e-8816-c54b31adaf31 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:84f9cd57-8eee-4ea6-8aa6-401054da958a phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:954374fa-75bb-4905-a4cc-269d35985500 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:476c93ef-1a3c-4907-8b35-bfb78d054805 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8451657f-8650-48e4-bf22-7d49459d6678 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:2aaa4ccc-3bdb-4780-b120-92d556680ba5 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5cbd9c05-0703-4897-8d33-c5b17c2ba5e1 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:2515e66c-3849-4024-af91-7a25e75dec54 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:638dda36-3ebd-4fc5-a385-e7ee477aaf88 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:d82e5783-29db-4869-8fc9-74195f764e53 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:72b8f963-76cf-4cbf-9628-3a0255114ee7 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:d9c00e37-864f-412f-bdfc-d01a3d59e3c6 phenopacket.store:EZH1.PMID_37433783_P4 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:e3ea101f-1fc9-4f00-a0f0-7af2ef7f9d81 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:26fe1aff-4e26-4742-b15d-6cfd13c51d8c phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5d8406c6-4636-4b31-b5ad-1c030887069c phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:9220d225-7577-443f-9196-b0fe1eefe84f phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ab6b6d83-1347-44a1-a792-450e25d1a867 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:128c0021-c6bd-4448-a91a-4c716f9cae05 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:34ca67c4-7dd5-4618-b178-467031f4c298 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7ad5bcee-b65a-4f86-922e-95964bdf175b phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:09072ace-0119-4311-9860-25fab695f207 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:001741db-2d52-4989-a9fb-ef1b5510c2b5 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a5e20401-5fc7-4578-a0eb-b43e24a343da phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:dc768150-47da-4b29-ab00-65046ebda3c3 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:68f9d4bb-4f47-4fb2-b351-f127d771fffe phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:0c2beb7d-d781-4830-a354-51e22b66adeb phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:528a2f48-9745-4644-b741-20dbcf3d3f8d phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:4be63bdd-fc9a-4309-b3a4-915328fec2ba phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:2fab6c96-d3ba-496e-85a1-a0646e613586 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e87c3510-2d66-40f9-8af3-770ae31b498f phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:ca88d262-9605-4baa-80df-a3620ab84cc6 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:cf5b6c2f-1b91-4778-aeeb-9ba434280c50 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:9060482a-9798-4344-8d89-99f48457135c phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6ecb05e4-8698-477f-847b-f732f05a4056 phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:ab044d77-5a08-453a-8193-f6ee995352be phenopacket.store:EZH1.PMID_37433783_P18 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:3f8886e2-c1c9-4efa-9d0f-96861abf26e2 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5b4e786d-5109-45e3-a143-fd1eabca614f phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ee6bcc0c-bc2b-4cc5-88a3-d7f734926e88 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:377f0eff-c262-47bd-b70b-d7d25d187ddc phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3d9a3f0f-175f-430b-b8b7-458e376c2df0 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c1f5371a-3f30-424d-94e8-3bf40d74e00e phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:2702f8cc-4ba9-4382-a19b-f3d86c080863 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7d731cf5-7d55-4afd-b20f-3efc89855f63 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3f5a0c6c-6668-456d-bebe-0ccc76191ac1 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0100876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ebbe6541-cac9-4fe3-9009-37202167a678 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4dbf1fe3-ae64-4a5d-8bad-5e5f7e6f7ec1 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:47b0f4a7-f279-4011-99a0-c063fc57075d phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a1ea3159-0356-4991-8727-de9e38d8936a phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:9f00ebf3-a5ac-408e-8524-c11d419d80ca phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0034311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:fbd0084e-4bf6-4793-9423-b2a5d120e99b phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:2ae74855-6a6e-4bdf-afc4-90873e5459a6 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8e708de8-096b-44cb-9fff-086635904df3 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5d609bc4-8c78-4984-9752-13b7f550e11c phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:575b0a19-b133-4a97-9b31-506da32a897f phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:7a9fc50c-95a8-4376-87a3-c9e69d8fc77a phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:c4b637af-4ffc-4ab2-8ed9-77df6fe49245 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:13dff109-ac45-4b8c-9450-181d8306ea34 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:7335ce86-0c42-4aec-bda5-bc06f0052a11 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8be1a341-dc56-4a1b-ade9-9c37a0e5f8c3 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:208541e2-1a15-41f6-9873-fd31632fd9c4 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:75991d41-e842-473b-be02-012700beb874 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:c622dd07-f925-442f-ba02-d259c034f959 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:eaa7a297-f256-4b5c-abc6-e319c812d114 phenopacket.store:EZH1.PMID_37433783_P8 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:07fad4db-dc52-4034-b056-0941d361e02a phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d970fd72-f7b0-4f44-8870-6a4916bc678a phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3629fe49-5550-4b36-b9cc-6a93dd789b87 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:946a38d3-188c-4c78-994e-b1300d2bc39b phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6d699c28-8f03-4f11-9447-7662c1f0600e phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:f63bd9bd-28bc-4cd7-b2f1-f9fc1d0bcd42 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5dc68613-a161-4596-ae3a-e1e310d888e8 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e1eaea8f-fe51-445c-b5e7-5b7d4bd694f2 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:00ab5f58-3a29-4776-8f04-8d952515dc99 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:aa67949f-0520-4807-ae52-7485f91b8c01 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:58c9b5ee-15f1-40af-af8c-9c8f69572ff8 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:50cda4bf-107b-4940-a956-d60ea1ebda9a phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:1b9c4ec0-1870-413d-ab12-b7c1b22438da phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b47add56-f929-4fe3-ad8d-00cd7c748db4 phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:da87d424-0e70-41c6-9fdb-3d8aab4dc88b phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:78ccb0fe-0416-4d85-ba93-e7c6546cd6ea phenopacket.store:EZH1.PMID_37433783_P13 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:cdaf6b64-41c0-4628-ad96-0a7f9f290b92 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:08cc7035-0826-45d4-98be-e7dcbfa56fb6 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a53fe803-6a3d-474f-8234-d92237391dbe phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:2bcdad42-7e52-47dc-82e3-e166cbb88239 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bfc593cc-6716-4712-8b1b-4bef045627d5 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7866ee42-ab18-49c2-ba7d-42b71788bb26 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:75f00e4d-108d-4f6e-a959-5b7bff3d8c5d phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:01de3648-81d3-4b1b-8447-0400b87587eb phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:f98719e4-462c-474b-a0f5-ee389b821d5c phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:208c7c30-fff2-407e-8e84-860c6265299f phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:71ac72c8-9e73-4c3b-b63a-676cb8024864 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:227e8c4c-fe13-46a9-ade6-b678ee4064b9 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3a2b00e9-3811-4298-8477-fdf9f8854144 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:2b24addc-081b-4733-a85a-f85c070eba93 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d07d3f72-66ad-4626-bbca-37815876d4a9 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:47c81671-886b-44f3-aef6-3b519c80c5f6 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:cd6ff87a-8fa1-45d9-8f77-d1378d74f87e phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4e79b093-5706-49ab-a450-425091f5a821 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:814f5fdf-2f4c-4b3a-820b-68d5e8dce62a phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:e4923171-8bb7-4025-be62-9c52dbe6289c phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c7dab742-0b6f-42c1-bcb8-24b285fec66d phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:26643c77-e338-48b0-8dec-286a2224e19b phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ae1689a9-9e00-4ca8-b538-c402e582477a phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ba3d2a30-748e-4ab2-ab8f-eb7b3de3cbcd phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:75d11512-efd1-4c72-90f2-c6c6647be631 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6b08da0f-6960-401b-9679-4586f3ee8817 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:9a39758a-3317-46ea-8922-6c8d939ade65 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:30b23666-2cbc-4a17-85d7-e9fb6c4d4f1e phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:4fe47169-eb2e-4ec8-9a4e-6b2e74cbdb0d phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5e290c2c-2619-4985-8ab2-3efd9d6a12f2 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:def5ef58-3ba1-404d-82c5-cfebc8e8fa40 phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:a0b73f13-b957-4457-903a-ee959b7cdf3d phenopacket.store:EZH1.PMID_37433783_P5 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:e91c5fde-2e23-4ac2-bcaa-a85eb7030581 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:17255b76-49d4-4cba-86f2-7c41b877d365 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bf4f7d11-5a70-47cf-b371-0a4a3d624b62 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:5e4e06eb-e347-4ab2-b514-d39bd2f484f7 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6ace4900-9949-4e70-9562-38f84def63fd phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:554bb7b5-62cc-4e9c-9e14-9965156cc0f8 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4d335c0e-ba43-48af-a234-3f1c8a7ff3d0 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:66762f69-9ae2-4fd5-9055-8a4389d1a38f phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:f8876e7f-2fb9-4998-b1d8-d2c6c67de8b4 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0002312 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:4b73ed2e-01aa-456f-a5c8-4b33fb69f707 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:930a08b1-c6a3-455f-b7c3-b366400a91da phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:38b87afa-7521-4241-8a47-e86cd8aedb3a phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:fd9861f6-b293-4e7c-8144-932b62198586 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:641951ae-0616-4eff-9d50-d06906b4be16 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:ab964ba2-8594-4a21-9b0e-c7be70e3c16d phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:064089f8-ddf1-49ac-9e7e-d9b03a3adcc7 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:41da3eea-50ec-4cc3-97be-cda2e4e29155 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e89f3b3f-ee9f-4de2-ac25-4269a333c232 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:d7f98f1c-8f31-4c2a-8016-eb3a34517900 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:1e735866-5d2b-4502-861b-a0c5f88c2a64 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8e089cfa-1999-433c-91d8-aeb1f5d70e08 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b3d30616-2a24-4150-a061-701afeb4b52c phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6d4cccd0-cf5c-4c3c-bd3e-0cf6195d07e9 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:2689d451-1deb-49ff-a6e6-93d36b88d608 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:5770ac50-01cb-4528-9c48-37dc87465f81 phenopacket.store:EZH1.PMID_37433783_P6 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:43934e3a-06ca-4268-a095-d876be6a59d5 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:0f106afe-ca1f-4b68-a9bd-fa96e1ec3526 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ba833f60-96d3-49fd-9a66-7be20db2e841 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b9eff253-cfb7-4206-b807-dd171d8d64e0 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a777cd23-6b62-4e13-9638-bcf0c101451b phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:75247670-c0ca-4dbb-b7b2-5ccc2d4ac740 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:c66238d6-6110-4325-a0ff-c724fdff658d phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:befe6aab-537b-44fc-82d9-466b1dbed2b2 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:136ed2ac-1a24-4ad9-a5a3-ce8daa779721 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:780a2257-02c3-47aa-a5c5-92de12758113 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:910cd458-38d9-4b42-80d3-e656d3f4a752 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:01ee725f-fb84-41bb-aa8f-7215c64ce10f phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b9662974-9f16-4014-a1e7-62876df8a6db phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b1e81fb2-6ebc-4391-a973-1a6d40a3bc93 phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:4f9ed6c7-3835-4575-a92a-f3cacffc629e phenopacket.store:EZH1.PMID_37433783_P15 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:ee036dd2-a33e-423f-a294-921cdbfde663 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:224063ef-c021-4d13-98ee-207ff2724700 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:cf5d5405-dfd0-47ec-b71d-2ea9537a58c4 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ac040231-7b49-40e5-adfb-8e9fac70cbe9 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:fb2fe370-16af-483f-a7ba-e89d6f6218d0 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bbcb8e1b-dbe7-4b40-90d2-4ea1a17ade43 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:1624bf4a-1d8f-4abc-8db6-d6689828ac50 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:731222c7-a5ee-40bb-a425-d6a4f9429cda phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bd26b6c5-8a5b-462e-a94d-6f825aae5864 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:8772321c-934a-4a6e-979a-9180c81949c4 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3e28d715-2582-476f-a08e-50e40136418e phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:310fa156-8c36-4c86-8b81-47355b048879 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:678dafbf-0892-4bed-a5cc-1ce790df87e1 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:26e3a51a-07f6-45c9-954a-9bc4b078a40e phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8c122461-4a35-4374-83ac-9fb73bbbd218 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:eb89289b-b03b-444f-9ff8-ace20903b414 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:a4efeab5-d5e1-46ab-853b-307f3cb91396 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5f456f92-7fba-4ca3-bd7f-38d018538fc7 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6be7003d-29a9-4025-b395-991d95b3fcb0 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:08a66135-fe81-4309-9baa-fc594871fbfb phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:5c0b5856-0a58-4632-ac8f-75b3df4f52b8 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e52d776c-e159-481f-984c-2f5ed20990db phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:599d76e7-8bdc-49eb-a5b9-21b4c95c55c9 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:20c0eaf3-5cd7-45cd-9eb8-a56c6450508f phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:f208b5fb-49b6-4418-b2e4-afdb28e314c9 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:1cb6bea5-2fa5-49c0-b413-eae4f0921434 phenopacket.store:EZH1.PMID_37433783_P17 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:6ca43911-c646-40ba-8d45-e2cdc78155d3 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:131b0021-ed38-4161-8239-378186f25d0c phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b2579d08-87a2-4269-af3f-88316400d9fb phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:fae40b72-aac5-409e-98d5-9c6b78dd69a4 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ae692ada-5725-4d67-b05c-a10443547493 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:f36759da-4b6a-4f50-b390-d10b99d8bc89 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8f40544e-4dc3-4b97-b203-e69857143d76 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:37e6940c-fb95-4a08-93f9-497f2345702f phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:39cfe11f-4209-47a5-bb52-ac89119be691 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:1606d430-ad56-4e26-a072-7b9fab792aa6 phenopacket.store:EZH1.PMID_37433783_P16 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:b8a7eba2-50a4-48c8-8687-52de4c3178b2 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d00826d3-6fea-4a01-bea1-fe660a45d8ea phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:726514dc-ffea-4c0d-b14e-a8f1a787bdd3 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6f108879-3cb5-4729-91ba-19af699ff75b phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7b0cc473-d4e4-4353-be1f-9454b47bde3e phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0033466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:3693ff2d-5d1c-47ac-946b-2e88eb31e27c phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:d2ec1381-6680-46c2-9155-109e971d9e9d phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:025bd535-fe5d-4aa4-84d9-6a12b77c7ec0 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:6851fbca-6ba3-4976-855d-8e32c918cc66 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:024ccbc8-10af-41e9-8a1b-3a49f3abc451 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:08227b1d-4c93-4666-8e6d-89ebaadae26b phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c877143b-01f9-4424-9fdb-81ed60ddd8fe phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:2c7f6fbe-637e-42e9-a0ed-e2b534615c97 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:ab017002-29b1-4810-ba93-8513ab7dc69d phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:e0c1397b-260e-4c20-a533-5e4f46ae4cdf phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b8c94d4b-ef36-4b9e-9aec-c776b12f3d5f phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0001897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:198286eb-844a-4181-8a1a-2c8c24ad6cab phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:21a7746b-5165-4666-afb9-e44ce3ea167e phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:587fd603-a3b1-4615-badd-641c008d7c1f phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:45ea57dc-4ff9-464e-8c6c-e8110d1b1367 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6061a836-e354-4e83-860b-8c3cd343ae3d phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:ac423cf1-37ec-428d-bdfb-c695a55fc1cb phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:f7c63643-acf3-4c1a-a18f-967e6b82cc74 phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:02c4b4a0-4f7a-4718-ac95-139f24bbd4dc phenopacket.store:EZH1.PMID_37433783_P3 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:20032964-cc6a-41f4-9a82-a1a333ad485f phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:24367618-8f5f-4948-84bf-575f2ca81ddb phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a59d5827-5e6f-4595-a79d-f4153718071a phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b0c28eb7-d6b8-4078-a356-83ebbe4339d1 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0030834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:a6634dec-3d68-4303-b2f6-39bb8de7f315 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:7ff2bad2-df58-4456-9f61-4889c0f2dde8 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:414c1a18-4041-4228-9329-728e4000e584 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:b1ce7ed3-445d-4d61-a540-4290ac008aad phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:642ddfd5-56a1-436b-9c76-23689910e0a5 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:c5dba462-6c6e-42ca-80f1-5bc018e7e349 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:cd3ac22c-2c02-4e84-ab9e-068f68bad2b9 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:55f7cc98-1548-460c-90b8-df5e166c5329 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37433783 uuid:bd81dd5c-5f2e-4804-9520-e9c688ac61ab phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:21d9b6af-d2ac-4878-8fe6-c6a59f4a93b4 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b04d834f-ba6b-425e-b185-1d27edef8fe7 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8e0287a9-9320-411f-85aa-efb0738642d3 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:b7258c04-8e01-401e-80cd-8f578875cb46 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:8a39e4ee-81d1-4101-95de-fb29e5cad499 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:6c69aad3-e49c-4b44-9235-20811404a66c phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0031826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:e61eaa37-5d14-4c1c-b08b-107006ac2fca phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:37953650-cfc6-43af-8367-e31f1e2716ca phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:fc04327a-7438-4c43-b8d8-7c152a3d5cbc phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:57a28452-f9e2-4c9f-9c93-2ac027a54bf5 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:341b8c90-b7da-4ecb-8016-12ebe2b70e74 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:79bd349b-c78d-441e-972d-31d319ee6721 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:2ff260c0-89ec-4a64-87ce-1ead8cdfdea5 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37433783 uuid:263f4827-7090-42f5-b6a4-762c77bb44f7 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_disease OMIM:601674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:7f25f9c0-eab9-4785-add3-3cca6187b6b4 phenopacket.store:EZH1.PMID_37433783_P1 biolink:has_gene HGNC:3526 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37433783 uuid:79f5e63e-f7d3-4653-8ae4-e92e62a544cf phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31044565 uuid:2c77f5b7-c41b-465c-aa84-4277cadc65c7 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31044565 uuid:5114d0cd-a83a-4f68-bbd7-b5467faa45bb phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31044565 uuid:cf6fe969-b2c1-44f8-9212-b6ab3469d4e7 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0020073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31044565 uuid:f780ffce-691d-4962-9c66-3ae885ca33f3 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31044565 uuid:424bd8e7-9161-4338-90f0-786ffaa8c637 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31044565 uuid:3bac8e39-d35b-4eba-8afc-f76b0f9c46d3 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0011940 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31044565 uuid:aeb4f3ed-a5a1-4f3a-b4d9-8261e647af83 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31044565 uuid:d7ec426a-e2ca-4b57-850b-67dc836977b4 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31044565 uuid:5a2cad1f-5877-4f7c-a39d-f9658bd6d821 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0009942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31044565 uuid:f5fc372f-2f3a-464c-a991-bf268a567f4e phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31044565 uuid:19505f7a-0728-41ee-ad69-c91e1d63f481 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31044565 uuid:798bb027-106f-495f-820d-924df33e67bd phenopacket.store:FANCC.PMID_31044565_proband biolink:has_disease OMIM:227645 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:31044565 uuid:85507fe7-e700-4bab-b078-c033864b53a1 phenopacket.store:FANCC.PMID_31044565_proband biolink:has_gene HGNC:3584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31044565 uuid:f2b7ca34-af52-4648-b317-de69053688b5 phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16429406 uuid:cc8dbdd4-4417-4304-bf24-5adb7e5024b9 phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16429406 uuid:b4c97336-2c68-4c67-8804-b7b2616933ca phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16429406 uuid:4a95784d-2bb8-4221-8a28-1833af814ce3 phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16429406 uuid:a8b174fe-06a7-4e37-b4c0-dccf968fdf88 phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16429406 uuid:0f8f9cef-e4c8-4085-8589-2613cc53780e phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:16429406 uuid:21a76163-5a5f-4b1e-8eb1-d030627ec8d5 phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16429406 uuid:283d9cb2-da59-47d0-9f22-24518e3056cf phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16429406 uuid:6c34d6b7-b693-4030-800b-d1e32916911c phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16429406 uuid:f82bc86e-2ff1-4516-8862-7577a986e18a phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_phenotype HP:0001909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16429406 uuid:5ecfcfb9-96cb-4816-854b-ede47fe0bfaa phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_disease OMIM:227645 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16429406 uuid:3215d7f8-e131-43df-8ab2-e9a122e4c435 phenopacket.store:FANCC.PMID_16429406_second_patient biolink:has_gene HGNC:3584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16429406 uuid:89df32e9-4682-4a41-abf2-95fe4364c56c phenopacket.store:FANCC.PMID_16429406_first_patient biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16429406 uuid:28a219e2-8e8d-4280-9654-f72b2b6558fc phenopacket.store:FANCC.PMID_16429406_first_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16429406 uuid:421e7a80-f783-4cc8-a0b5-deef5758982d phenopacket.store:FANCC.PMID_16429406_first_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16429406 uuid:9c98c683-181c-49ec-86cb-ed2c362f1237 phenopacket.store:FANCC.PMID_16429406_first_patient biolink:has_phenotype HP:0001909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16429406 uuid:48260b00-8fdf-4f21-9aca-98587abfb887 phenopacket.store:FANCC.PMID_16429406_first_patient biolink:has_disease OMIM:227645 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16429406 uuid:88726152-0e5b-41f3-8135-9519ed960294 phenopacket.store:FANCC.PMID_16429406_first_patient biolink:has_gene HGNC:3584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16429406 uuid:b3831038-f868-4a78-8029-86ff037f2847 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22701786 uuid:810a3119-660a-4144-bd17-626510235215 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22701786 uuid:49ed3063-c616-4044-8044-2b77435391e8 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22701786 uuid:18ba18fb-0170-4d31-9ca4-637fc3db09a5 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22701786 uuid:baefe450-8d10-4284-bd7f-0f737ce97a48 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22701786 uuid:1275c9b2-5b9b-409d-834e-f2bee90f85a1 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22701786 uuid:9c2d0c3b-ff43-4ea1-bd96-68dbf7de315d phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22701786 uuid:70fa07e6-0dca-49e8-9d9c-f467ae0b8cc0 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22701786 uuid:2e5a4cf0-455f-41f8-b5ed-2f965512c090 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22701786 uuid:cd219e19-f5e5-429f-bc61-005b3b1af11b phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0009942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22701786 uuid:0838ef98-c83a-49f1-acf6-10478a3597c1 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22701786 uuid:2d2e75ae-3718-4cc3-b703-11f9e4b7f4e7 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_disease OMIM:227645 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22701786 uuid:61487c19-5df9-4748-bed6-cb0447c304f0 phenopacket.store:FANCC.PMID_22701786_proband biolink:has_gene HGNC:3584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22701786 uuid:bd02a8b2-d938-480b-bcca-b7ce092440c5 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:ac8c3591-86a2-42cd-ac2e-ec6f7a248727 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:9265b657-5f9d-4fe9-9bce-c6c5e2dfa6bb phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:ca01fa73-8980-4271-a8d4-4bca13643885 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:f3004c91-9fcf-4d43-8682-25ebafc2565c phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:e0e82e2b-0148-4c2a-be01-2c44b26fd200 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:515bfc7c-6b67-4ea0-b835-f6920bda3e5c phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:6e227ad6-a9ce-4933-a52c-5d2dd2d68306 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:05fa1865-0985-47f8-b386-cb71ed2e95a1 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b85defc1-1a3a-47db-889a-4e23677bdec5 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b5bae4c2-7f74-4daf-848a-67f5dea24504 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:869eb861-6bd1-4940-b646-c276be6c1af6 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:4fd24080-39a9-4dd2-bf2a-938a836f406e phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:eb03745e-3087-4990-b4e1-70ecade98b04 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b75c5a2a-c714-443b-ac33-97c253908678 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:ed7672d4-3e97-486f-bd59-005c5a81594b phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:1babcebc-7159-4238-8768-f18e24cc61ae phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:c43fd621-dd4e-4803-9e6a-c46a154b18ab phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:96132c34-3b82-457f-9bd2-e03f97e3e227 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:29218068-83a5-487c-9e88-22d618b0f030 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:19cab352-eb82-422e-b6d5-d4f912348eb8 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:a1d5ac5d-0c2b-4a6f-80ed-035df0da48aa phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:46eb608d-5891-42fd-b299-293d2787f607 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:70626576-520a-4c28-9c2e-62ff9ff153d5 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:479d92ed-a8e3-43bf-bfc9-deb90660a8d9 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:5ce186fb-1335-4d33-ba45-c3814b4679d7 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0002949 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:81cee85a-392e-4102-aa71-34f8854acf61 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:2569cdd4-286a-440f-8a0f-01b39078b93d phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:6952d886-fc72-4b8d-9daa-a7bbd8d32112 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:fd65f256-2030-4955-bcb9-428807b4e01f phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:f8b4ae07-0848-4aa6-8df1-80aedffb3463 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:a6e9540c-a0b0-4567-a079-93c22a2c2c67 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_disease OMIM:609053 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26590883 uuid:9116cdd2-a4d7-4bac-80e2-45130d001d57 phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:has_gene HGNC:25568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26590883 uuid:29be5da8-d637-4ab9-98d6-a850f2ae7293 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y9M infores:phenopacket-store PMID:26590883 uuid:2154e995-8128-48de-9d50-17a9db022db3 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:317ee67e-3b8d-489d-bf42-650e78d52ebc phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:a470e8e6-80ef-424a-a912-a905f74ab558 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:1433e063-3666-48cc-b076-4d231ba9d004 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:217b3a89-1268-4a3a-99c9-df56359184e8 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:537a2731-ae52-4b09-9de3-8c49dc8e98c3 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:306672e6-4548-4d61-bc28-3f45d5cc2fa2 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:8be00e6a-f962-412c-83c9-d8c8e0e71867 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:84966dfe-de75-4e91-85e1-001c0794085d phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:2eecd4f7-0e9d-40d0-856c-35eeaf3921d8 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:094797b4-db3b-43bf-9e48-9751a90125e1 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:37a6ae6f-d71f-4163-8719-a3f78c5020bd phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:4e656969-ef02-49dc-bd48-e731519a5994 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:220383a7-9f9b-4955-a474-0a14c395cea2 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:a9175100-0243-41f7-bd3e-5b7b34e7bc91 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0002949 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b2bca51d-4b39-4eae-8b62-4374dbbb4bcf phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:d8b3abfd-4a53-4dae-a9b0-0ad24a7cb52d phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b635f501-f16e-4246-a2d1-40ec70507c23 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:ab636acc-1fc2-4821-9b72-e1fd711fe3cf phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:0f97f372-ede9-42d8-8a19-7217c999c919 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:34e0ef75-83ad-4494-ae30-06a773b82468 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:a814aadf-51e5-4a0c-ad8a-4366f8050f98 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:80a87c14-b6bf-401f-86d3-d90e14f1021a phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:02e3c52b-c346-4c9d-98a7-20942283926e phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:5fb4e15c-147e-4fd0-846a-7a3f98e0386e phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:c97b90c4-7617-420a-89f3-ede3755f60ae phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:db5fb5f7-ccc9-456f-a22a-d11292d719fe phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:b87b0753-ce76-4b4b-af0f-931c16db1573 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:be89b024-5c34-4f5c-b195-746c1bbbb7f4 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:4ac9b02c-7da4-452c-b0e7-23f8037de15c phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:5941c6af-5376-446f-aaaa-13b0966930cc phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_disease OMIM:609053 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26590883 uuid:d1755b2e-7c7c-4ea6-a668-0f0a891729e1 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:has_gene HGNC:25568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26590883 uuid:5244cde9-b5e0-45da-9c2a-485a26ec5e3d phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17460694 uuid:42b6a44f-4a1d-44b7-8f88-534c5d3d363f phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17460694 uuid:528ea8ba-185f-461e-9b8f-722ba9c26a83 phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17460694 uuid:eb931b22-b2c9-4465-a403-f0357c832b09 phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17460694 uuid:25bc26ed-03c6-41c2-a307-94dbdee26d01 phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17460694 uuid:b4056d67-71a1-4e44-8ccd-455d938567bc phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17460694 uuid:687ecbed-c569-4949-b445-1d1b7185af5a phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_disease OMIM:609053 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17460694 uuid:a6ece23a-f2f9-4f96-a643-34dc5eb81eb9 phenopacket.store:FANCI.PMID_17460694_F010191 biolink:has_gene HGNC:25568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17460694 uuid:3bd54045-a73e-489e-ac08-440fc6fc7e1e phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0003221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:69ca47f9-4144-41b7-9eff-0de772604595 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:3a603f69-7033-446c-b2bf-8b09d7041613 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:30727e66-9d64-4150-870a-6752db35f9ed phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b7a3e3f5-39c8-4f9b-9273-ad15aa04e721 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:fbbe4574-8be7-4d67-a11e-e8cf3fbf71ce phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:eaf98d21-12a6-4a1a-936c-3ba5142341d1 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:50c2533d-d5bf-4796-816a-51d2a3100f0e phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:4934175c-ecd3-47b4-970a-24f52ac87741 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:c151df14-e1cd-4558-81ac-bf0870df17bc phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:4df668fd-98ca-4dc9-be29-6715e6b264cd phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:2bb1b4c6-c4eb-4bb2-bc53-adfc91bda012 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:09f4dc59-ce46-4e6d-90fd-3a8b6a02dd1a phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:8ee10ae7-69b6-4c0f-9cae-ed1fb9860274 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:ea93c077-b261-4381-b4c1-fbe5060d1665 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0002949 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:2a0404ab-ecd0-4920-abd9-80057a65dcb0 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:4a225f08-4d6c-4b10-8143-ba38040644bf phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:b23d5268-ec06-4318-973e-18d3648b8ad6 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26590883 uuid:c14d610b-55e9-4c5f-87e9-d2dbe184a031 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:a5ae258a-535d-4c50-a46e-e5784d3bbdc2 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:c82ef393-db9c-4ed3-bbad-f7b7322eff72 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:0622cbfd-f3fa-4ea3-a3c3-2dfafa8efe8b phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:17c1fd4a-fafb-4786-9913-c49b637978c6 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:dc72b380-0a2a-45c3-bbd7-1dc39dc66409 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:d1c1a73a-07f3-40d4-9d86-df6b85c550ea phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:fe570097-879e-4bd0-bdec-24d8e9ebd397 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:e95e2d6b-ce42-444b-8e48-af0db19fdb02 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26590883 uuid:f8701b5e-64ca-4f07-9517-6775c6e1b5a8 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_disease OMIM:609053 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26590883 uuid:902547b4-9f82-490d-8721-69ad0f5b1176 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:has_gene HGNC:25568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26590883 uuid:3ce2b454-8883-4768-9d6c-8e6bb4db2fe5 phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0004381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:12189163 uuid:dcea8ce1-6622-4cb1-803e-34ff531edb71 phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:12189163 uuid:929874b4-5eda-4da1-98d6-43b6ebe04b6b phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:12189163 uuid:e646c4b0-52dc-4e95-8452-8204230227e8 phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:69cdb7ed-9f88-4956-b774-9af53ef78cff phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:dd93df58-efc8-4d27-b01e-0dc6305d46f8 phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:125d72fe-43e9-4ad0-b635-e230d4d50886 phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:35478818-af9b-4e65-b7f1-1d336d901b35 phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_disease OMIM:219100 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:12189163 uuid:e7fcca87-7038-4ab7-9fbe-5f706aedc79c phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:has_gene HGNC:3602 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:223d4863-d11e-41e4-a003-3f59b74ae513 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:95a91bf6-05f0-46fc-b7d2-51201a2ad32b phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:673c7a96-4f93-49ab-a038-ac657eee0eb2 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:cf652f65-5ae6-46d8-8167-a3f364517af6 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:a2f19bc9-2871-402a-a2b7-85a4147d6eb6 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:2b318865-6c35-45e0-80f3-a62f108dc005 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:bb622a29-11ad-435d-81b9-a8b8210b6196 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:80d513d3-fe9c-401b-963d-d86a2e2dafe4 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:e9bbd99a-3016-43e9-9e99-f86a2ad28120 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:e603dfaa-599c-474f-b774-335a7e810a7b phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_disease OMIM:219100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:33557e97-0a77-44e6-8e0b-f354987db1f2 phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:has_gene HGNC:3602 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:521db59b-8a48-44c8-9b5c-885be28346ab phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:e0a2fd6e-c556-465b-9ac7-dd586902ec8c phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0000015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:bb4b7cad-33de-49cd-b0fe-1bd19d4962d9 phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:dff95bab-f745-43f6-ad2d-d97b55148f55 phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:7bfaafff-00e5-4467-9a63-14b42db3c7e1 phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:0eac90a6-ee08-4414-9fb3-8757a35f8a2a phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:51747b9a-b2bd-46bc-9d94-6b35cf38a9f0 phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:aa37f34c-afaa-45e1-9dc2-8a19e540aae9 phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_disease OMIM:219100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:8b414823-1c0c-435a-9117-5980d489258b phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:has_gene HGNC:3602 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:f7442e12-7983-4800-a365-d2be83473b83 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:8837d576-00f0-48b1-bd34-7f3a5f7162fd phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:51188f69-49a2-4663-82aa-29f8c660d7e7 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:24962763 uuid:de87ef33-a8ca-467c-896e-a1bf6eff2dbc phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:317922ab-89c2-4a06-9bb1-35bb4a4eea37 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:58159bcd-3e20-41db-a6f9-93bf7740a761 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:74c18635-1fc7-48e2-88c1-636d774bc088 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:76901e8e-b150-43fa-abb8-4a3a65080c93 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_phenotype HP:0100857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24962763 uuid:9b17dce6-3fcb-4ed9-8add-33837e5ce362 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_disease OMIM:219100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24962763 uuid:e5f4dd15-c1ea-4796-9621-e02ba38b95d7 phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:has_gene HGNC:3602 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24962763 uuid:4681b851-3aa6-4850-83f0-a78365d2e1c6 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:a20d5476-d106-416c-99da-372a3c69ead9 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:44bb7131-f88d-4853-815f-b15cf86df291 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:1ecb2fb5-c264-49b2-b4fe-1fdb728a659a phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:cc02e325-28b9-4ea1-9508-0763f23e7da3 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:e7bc2724-f48c-4203-b2f9-c21e34d77f05 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:0df2ec38-560f-452c-a571-4e4784f909a7 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0006543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12189163 uuid:8486fbd9-06d3-4280-8e9a-0133488eedc2 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:8eaf1ef5-8967-4045-8e96-2fe32cf3ebd0 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12189163 uuid:1a02d1e8-7e1e-456c-8d7d-0fa28f99b216 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_disease OMIM:219100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:11c252d5-5939-40fb-8069-9a272ab92d15 phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:has_gene HGNC:3602 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12189163 uuid:003c93d9-488d-4d90-94e6-67ba8b0d5a87 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:96a45a0d-1e7b-456d-b9e6-ef9bc3878b7c phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5882a24e-8410-4e3b-b1ef-aeaf80edf78d phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bc18107d-b4bc-4610-8d11-6f115e6170fa phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b8e927fd-2b40-45f5-aa23-bcac31fa80f1 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:40398139-4015-4901-9104-b994c1fcebc3 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4c43bfae-01fc-4237-935a-a5a330e4d3b2 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:79a96a90-c41f-494e-9356-7ed92c86a9b7 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:43e427d8-df2e-422f-bc87-c4fc8dc67527 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7b05802c-74b3-459f-9b26-9db28c99cd16 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:2c23973c-3aa3-433d-8a8f-c72c85097df0 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:40ba153b-7041-423e-a22e-b3368386c968 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cd66a1c8-7b02-4976-b92c-265706f75c77 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:415731a9-dcc7-4c1f-a321-69ce31f34109 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5c47f059-1a1f-4772-92de-e8a821da909e phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ae5b90d8-b66c-4752-bc3b-d9a1acfacc51 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:992888ef-6c29-4182-9ee1-38b77a7146e6 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b2125225-a008-44d5-bc00-c338fc4cd877 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c5a2ddb6-83b5-4297-998a-8a952cb30515 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7545d8f1-3047-4a6f-a5bf-5c0435e6e350 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5ee6f85b-f50e-4197-84cf-fdb5733eade9 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8c70b37c-78b6-4f35-a284-340ddeddbdfe phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1b202020-1f06-4b76-8f92-36b2858542d2 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:491042d4-0761-498a-8c56-f4ef52003d44 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c3656d60-30b8-4568-adec-a3cd3e750857 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d2bf8321-5cda-4aac-aa7d-8f105f5225b1 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1dbaaa6c-838c-4ac1-a2ee-79fa95698b53 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:d4dc6c87-18c5-4a0d-a33f-4456c0871d05 phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:c2ea59f5-0475-459e-9881-d4b5ba291de2 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a5d02b33-e426-4838-a377-c77f4f08647e phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:28456e06-b038-4835-96b1-52500759a81b phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:45b893b2-9c26-4548-b999-b6bda4e1449b phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:db621f12-a4c5-4f98-82ab-e6941d296dfc phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:073bae24-fb09-4b0f-bd2a-b4e5e1824f39 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ccc44fcf-10d1-4a00-a216-c6aa0548544b phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:45eaad14-0665-44dd-9fa4-e8d0b34ebff8 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6f8fecf6-1ad9-4a50-861e-0ccac520e71e phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f3186f68-adca-427d-aa56-9d454290ac11 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5ad22747-f6bb-491e-843a-00b61bbf7c2d phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:012476a4-1f36-46e7-806b-60e26f4bb1d1 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2c8cd3db-b521-4e4f-9572-fee2c5619f53 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:17396e9f-b8c0-4eea-876c-52a56d8301fe phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ec65e574-ba05-4bb3-8594-a0ff8be9b0d3 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0e68fa8e-c7e0-4801-ab98-20119d2e4d08 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:dcc84d70-b0b9-4cbd-85b9-d6c3bbb35a39 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8688bb07-456c-4fe2-991b-7693a7ec3222 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:353d97fa-62fb-46b1-9295-eb51e52d91a7 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0e6d00af-02d2-4349-913a-74b1f7cff601 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ca107c01-bcf9-49e8-a35b-ef5acf74953d phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3d48f901-e238-4edd-857f-3f9a7bc33277 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:dc9f677d-b096-4a1f-b78b-40dcf34eaa6f phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0c4d2fcc-37a5-4b27-a031-3c57092e8a84 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9994455e-b44a-4db6-9f43-3b7fc8eed698 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f7ed3966-0438-4432-93de-e3902e9b6172 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5ef70a57-553b-487f-b7f5-99596764f24b phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:c6c033fe-10d0-452b-b557-8b6939416cf0 phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:1355fdb2-86ef-4e7f-a77d-b24609a2ae15 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:528fe8ad-2f28-49a1-b4c6-8f83edcf7935 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:7f42ed1d-c2be-4946-ae35-0a7bf4ffaf70 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:267a93ff-d635-4ddf-94c4-210ce9c69464 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:cde75313-5788-40d6-9cc8-7f641f3375d4 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:22ef8fe0-21d9-4851-be2d-95d28e926b91 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:8e2b4298-2003-411e-aed8-5366cbe08b6b phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:48013534-f8a6-489c-ae26-d5c934b1a436 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:f177679b-9d77-40ce-a020-1ff98b388ed4 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:1d4b663d-d997-49d9-92d4-47c03ef0b9e8 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:f4710c9d-fa68-47fb-9bb8-700ad58d4732 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:9293b53f-8f3f-40f1-a2e7-c5252417f4a6 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:060cc800-eb4a-436e-9261-345cf79164bd phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:b2de1d4c-979b-48c9-a476-a21dffd1e6ec phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:11d2bb44-6577-486a-9f13-74c00ff23640 phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:2a5e3151-10c9-4c58-a079-f8cf5f92fd0c phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:9e6c7699-adeb-4146-9656-f2d97d7e0edf phenopacket.store:FBN1.PMID_12446365_RWT biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:9fc2c0ef-3c93-4734-ba8c-1b34345c0705 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:9dfcecd3-620f-4ff9-a58b-402c17d2b067 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:cf6f069e-8744-433c-8339-5cb5e5f29d2e phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:dcf700eb-a558-48ef-bb05-45117a923379 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:d3058bdc-4189-45d6-9c14-a729a4d8cbfa phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:a8eca4fb-a79c-4fe6-b8db-9e817dc90d43 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:24aaf0a3-bc46-4313-8ec3-c6c7c87b1bb5 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:619ef933-d4b1-43f7-97f4-10d82d4b9a92 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:5a158cf1-629e-44a9-85c6-61c6c7845a1a phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31774634 uuid:6757011a-2ee4-4d0e-ab51-71b6bc480856 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:b67c8b70-90df-4e45-9d20-da698da8d44c phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:4881c859-6527-4ca0-93e0-6062c02fc85c phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:67365eb4-cb20-43a7-9330-e5b4e11eebd9 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:99e2d67d-42d6-4dab-8da2-95c5cb516169 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:6997e09b-27b6-4b1e-9fd0-70165b029cc6 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:1e3ca7f0-5458-4609-b463-3c6ee9a07cbf phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:9f15afc5-d182-43b9-b206-08899b487e60 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31774634 uuid:307cabbf-0a35-44ce-8751-8d03bd1963a1 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31774634 uuid:7557cd4b-657f-4186-a0c5-208d96e6f355 phenopacket.store:FBN1.PMID_31774634_XH601 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31774634 uuid:9d80f1ef-4cef-4a29-ba2e-98aee02d0af9 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:69beb686-3fb2-4a81-8588-1604c04658b0 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:51137a4a-71b1-4891-9de7-5da061cf478d phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:9faba096-98e1-4dc7-8c5d-90b3ddaa6caa phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:8247eca1-cb72-4102-b17c-c92774e6156f phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:831d8f03-3076-4c10-9d0c-ed81b3d144f8 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:0d05a114-a6e1-40be-b487-8fbc87096b38 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:61569047-b62d-4f90-9988-83317640db13 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4ea4b3c7-4205-4706-aeda-578119741253 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:128f1654-dd0c-4182-81e3-9ff5f79959e4 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:97e83889-6084-448f-b2e9-ac095eb95758 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:2fc16009-36d1-4008-8445-0d7cf090865f phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:9a6ed35b-1086-4966-936e-64a03c92043d phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:782759e5-54e5-4af8-8e97-128165868d4d phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:31fce4b2-97bc-41a3-9c51-2f1b63f8a672 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:2a479927-4515-4f58-bc18-8557eee1ed75 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:aae1c8b4-27e0-42a7-9e92-30cb228b4643 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b28476c4-783e-4baf-8db0-af172c8b916f phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:566523fd-9902-4ca9-b7f0-ae94a8256f4d phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:672c88c4-6445-4e9f-807c-3ad66a958612 phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:8d5a9e6d-aee3-4e95-853f-760a1ef1866a phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:03347faa-1030-424e-bbec-cc9c0ae842d3 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:f7edc7dd-eaf9-4400-9725-7cb1efcdbe98 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:ea2e7349-d85d-409c-9759-62d27cddf4f9 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:b2491ca6-9f81-46b7-809e-e93b7fa3064c phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:7abac2c4-e31f-407e-9873-a25ee2f12068 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:f570d7ee-b583-44c0-b242-f3034740368f phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:e149bdf8-53a3-4c5c-9183-2f65427c9a4f phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:e00a152a-2c76-4feb-817b-a5b2ef3ad5b9 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:081e5ffe-7491-49b8-b902-9d95cbfafe88 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:89cd79d4-ad86-49a0-a6d6-1955b8088969 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:07c299e2-1e28-45c4-92d7-4c2802a3f561 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:8ac7ff5c-697c-4ceb-8726-a3d8ace4e3be phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:37afb235-1769-4dac-8e17-fbd54895d305 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:b4a01c29-fa6a-44cd-b5d7-5f7bb541fc16 phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:3f6966c6-979b-4752-b84f-66fae3128cdb phenopacket.store:FBN1.PMID_8188302_III_4 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:1b82887a-2e8d-4772-ad33-d1bb75619d73 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f3ff41eb-a797-4154-8a0f-3d8954140c16 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:eddc2b71-f517-407a-8cbb-86d519007b7e phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:13220eea-69fd-4c8a-96b3-8a2df8824137 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0504f397-f6be-47f2-8ee8-ac199368ea17 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:77595c15-408d-4495-9c5b-ccc6bc8092ed phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:47e5d035-a00f-4e2e-a018-4011db34ed3e phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b4fa03e2-e2cf-4052-a4f0-38cb131bbc5c phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2f1e3d1a-34b2-4142-9c5f-538356589764 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d3f74f6a-cadd-411f-8273-763074db81d1 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c60e1220-f8b8-4e92-a416-b4b2707c4ef5 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0ce064d8-a6c6-4150-afbf-98eea1f05dd3 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:86c03653-077b-4e1c-b4a5-6a37570d756c phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:cd5138fc-bfa4-4c6e-b668-28b1927b7cb3 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:46523a38-1be2-4390-b996-99fec8d3f4df phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:074d0ca4-db21-4684-a931-beba758a2fc3 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8c147b2d-bf03-4f44-aa31-e0c2312ad9ed phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:00559946-2433-4bac-ae4f-918de6fc69c2 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:854ccb5f-3b45-48bb-97df-64d58048de7e phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1721e684-f25c-44a7-940e-bc2dedf2182d phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:75c31e78-bc05-49eb-9e78-89756bfcce1c phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:1452d378-2fbc-4527-a39f-f8d4b1e38965 phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:897c25f4-8259-4954-9925-fa02f79f3f7d phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22539873 uuid:3661c2c1-13cd-42f5-908d-658683c4aa3a phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:8683e87b-6246-44dc-a79e-95d714614bc4 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:a636d394-4aa8-4a87-b7c9-715b2cbd91cb phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:083ddeff-7267-434d-922c-cffecf28190c phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:a76904a4-2131-41f9-9678-66d41ccb6125 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:238317b8-ff51-4327-a1b8-20d3f8de9319 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:3941a8f0-dcda-4ee1-9ac4-89bd37f0ef6b phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:85cd6775-95e7-42e8-93e5-1763a47eecc2 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:ca849df5-b0f2-463f-b7ca-aa515c7a4c94 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:f43eb806-1e54-4bea-a140-89dfa8d52983 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:ca3c1c0e-b128-40a7-a024-b317c602596c phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:ec03b1b5-cab6-49be-bbf6-09315ac87273 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22539873 uuid:dcc595b0-d953-4f50-9914-ced13cbe37d0 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22539873 uuid:704383d1-6b1a-4af9-90b9-ac47488fc606 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22539873 uuid:0177aead-9802-41d1-832b-f71ddb6765bf phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8d29dc1e-2812-4b67-8b1c-cd74199d5bb9 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bc9d617d-856c-4ebe-8e4b-dacf61686cc2 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:746fde7b-1cc3-4efe-9c02-2b189f0f90ae phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f953d25c-26c8-48e5-9d93-6cd2df27fc2e phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f56e34ce-db15-4f66-9a62-8d1b76b3ed25 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5b97d650-380f-4425-a2db-d9cc844ad53d phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a07dfc06-923a-4a93-8192-45704b01d9bc phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:00b77a95-750d-4be2-94dd-dcb1212dab43 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:669a0f7c-1039-478b-a410-0a5c946d31ad phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8b6735bb-d1b7-4b2c-9ec6-f76d209c06de phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:79eeeb7f-9f41-4a9c-aff9-4365844e3355 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:557917e7-2944-4e1c-99f3-59357017e31d phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:38df237b-cd74-496d-a85b-628bbb47e852 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7d8b5248-6119-4a4b-bf62-b10e895eb58f phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0ed5b16f-4025-4a26-8663-2b667f7c3bb4 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b8d37ba4-a36c-4db7-b6a9-498dd725a2a5 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e5ed645f-e32f-4962-8422-a082dfa6c5b3 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c126e6f5-3d47-4f5f-a5b4-483aed23adfa phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1a1a64e9-6f0b-4fcd-b00d-644eb66e668e phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4a8704b4-979a-413e-8524-b0ee7ddfe31d phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:958f03a7-0e69-409c-b8ca-e529ee8282d2 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8890573b-f7c9-4081-a12c-14ae61fec547 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:f073ed2c-1367-427c-9bfe-fe879938ddf2 phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:081ee2d7-ae8c-4b5f-a1be-c9b7658d03db phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:d824066d-efb4-4cea-b747-0a67c5753285 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:48fec839-f58f-4fba-9c8f-0f4c149ee717 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:5bca1748-ca8f-4647-8bfc-7d575cb07b67 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:0efde86c-d4e7-4762-93a4-d549b316fff9 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:df88ac48-98c0-409b-9e7c-dcc5cbf9b8d3 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:10aec332-d632-44c3-ae9e-b2202004b335 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:201fa085-8a50-458a-a3f6-484e109bba93 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:e1f049cd-376f-4e3b-9d92-7ba1f4e5558c phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4296350b-de6f-4252-8975-bd51cea9b3f3 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:390e9ed5-7a94-4c25-a5e1-66a3f34fe4ea phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:947ddfca-e0d3-4d0a-aa1b-a49187632c1d phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b0fd541a-a7f8-4118-b013-c03ab25073cc phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:8367f9f4-bd84-457f-93b5-d8576ab6a3db phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:5ae0a646-5305-4ffd-9c95-4a2ff011b55b phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:d1b4e073-40a2-40f0-9ca0-13ecf7de9055 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:004a38fc-bfaf-4400-8a26-0c3c8687e37f phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:395c9d4a-c9ca-4acb-bee7-5bee18567239 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e682986f-4041-4cfe-a25c-8a3e7ed11f0a phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:92477e6e-1c79-4b55-a38e-90a2645c9434 phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:a2dec254-5f72-44f5-8f97-87ac60f4d9cd phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:8da9a649-ff2e-4ad3-9ae8-661a87a5ea8b phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:c2265b11-608e-4e94-a113-6fc0a5534734 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:c96929f0-61eb-4f39-927f-0430aa066c50 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:11ba4ce5-38bb-4ac4-8bd2-91dc7b28f3ad phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:f3a2188e-51c2-4323-89c2-60fd90175f7d phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:3b3cd809-8be2-408b-bfae-ca5de422abc0 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:b5e954fc-dec9-479e-a344-ef5701105ca1 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:89bef046-24cf-4047-87ce-c39d18b25654 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:23da90be-5aff-46ac-be08-01762d031414 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:1a49a356-2d3f-4321-96ab-9d551ed52a37 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:3af2166f-73ae-4754-bc45-7981616baaa8 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:32477dfc-abd2-470d-927c-b0a4dea2a452 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:90062b46-0309-40bd-a274-f363fdfb0f78 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:eb3fef57-9243-4858-96ad-695a4fe0cef3 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:ddfc8cd7-b2ff-4d84-8298-4040cfd597ea phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:3b277d09-4730-407a-b3f2-04e9b10300d3 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:3f97feb2-20bf-421e-b6fc-cbb5618919e3 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:08427296-2430-451d-be2a-e5d8b2233fd3 phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:d6c081f6-482c-4158-bb62-7c99f32b63ce phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:8b3e069f-e550-4799-ab87-d24d94c7717d phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:89a9abf4-f0c9-4e14-a2ed-240f535badef phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:37aa052a-7060-4df5-a293-1cf2305a185c phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:b4747574-655d-4461-be3d-068cb976e8ba phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d3da6fb6-fd32-4c7a-8910-7e2e166b5f9b phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:e02b96b5-73c7-41a2-a6b9-9acfddaf64d3 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:672c5d3d-cd0a-44b1-9d46-67a7f3a326a0 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:02b4eae4-e73e-42ca-861f-87505c483d37 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:7207ace2-4a0e-4f93-8fc8-7a7d48ea0620 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:bb5e3119-7742-45b2-a969-108d06bbae59 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:c4460b40-afe8-4970-b5e1-4d746dc4edd1 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4a981da0-21c5-4bd6-a734-80a4b372104c phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:a6adc145-4025-409f-9493-4abfda4cc52b phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:21048b96-bfd7-4ef4-8ce0-7a1c306207c4 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:c9b4136e-7fd9-4f91-ad7e-1b036d61ca1f phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d4ada776-660c-4677-9009-9d998600538a phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:cd3646c4-9f21-450c-8fc0-6fa8823a0f15 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:8a11ff82-7655-4fc1-bdb3-879a7e604fa2 phenopacket.store:FBN1.PMID_22219643_II_4 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:5041acd1-3854-4602-9911-c38e27f2f03d phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:53e49477-dc19-4db7-95fd-f5e3c2833452 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:1edd352d-e7c9-443e-9f20-b689617b5271 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:2b9a8d67-9b37-4f80-a23c-08d6162a2121 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:750680bf-0aa3-46f7-9be8-7cc0f5081d36 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:dd3b64fe-733d-4e6f-89bc-dcc90e74e6bd phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:57c3e324-673a-4696-b922-fa00b74d735d phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:4436e444-1ef2-42cb-94ea-2faee66c26cb phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:3617e8eb-eb4b-4462-8a82-dba5e59e4072 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:aca2284b-39b4-4d11-a4cc-0ecfe7cdb457 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:370683e7-8d93-458a-88b4-ad326e9014d2 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:0062d2cd-323d-4828-90ff-42ed3fd7ad92 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:d9b3cfb9-0024-470c-b301-c49a3cfacc14 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:0fe955cb-97fd-4157-8a22-b4bb9d2dca7d phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:75a7363c-7d17-43cf-b1eb-52c8f2a4bca8 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:2a811c1c-16ab-4c0b-9aef-99c7225c9e37 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:417a1029-b9ce-4dda-a55b-97f1dcde318c phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:9c2e9534-fcf2-4863-a663-80f19168d917 phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:5f94bfd8-7b7e-4cd4-b98b-697a3dde3175 phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:f458a53c-d60c-49d3-b5d6-33b926d47bc1 phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:8c709bd3-7626-4c61-a15f-ab024d7789a9 phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:4976cc9b-ba79-4c76-a2bd-ea5be8da0210 phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:adaacd28-9bbc-4750-89a6-a6e1f5dbd8dc phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:4e3c4ef7-3c3a-4cf6-9a8e-4d0c59194911 phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:baaf99d4-fa69-4b78-8ff9-b0514b53fc83 phenopacket.store:FBN1.PMID_31527767_III_9 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:9c854bba-2771-43fd-a13a-24a2acb2ba68 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cd1710f8-4591-4793-a4c0-c957f8292cd5 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1896abf3-6ed9-4243-89bb-f627f2062ffd phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2c1164d3-99a4-418c-b802-60cf90df6bd1 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:06c50296-3930-4262-a377-1471d02097ef phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5fa5a207-9d90-4add-a8f3-1914f12a1460 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d9645d92-ff12-4fdc-b145-9af12e7df693 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ebb52ed6-f179-4e6c-9cdd-90a8611ae0b1 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:94080aa9-4595-4654-a520-765dcbfdb785 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9f762704-6897-42d0-8f03-d70b661ba8cc phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ed73b42c-12fc-4097-8142-65c7c12f7b76 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e8cd51b6-73f6-48d6-808b-9fba8ee8232f phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bbd4be40-a939-4414-b523-e84f251d908e phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d396b31e-8c9e-4a17-a3e1-a19af459836d phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3a2c2fee-925c-4b0f-9905-94367858b991 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:76e7e599-ba37-45d1-ae76-69d74a0cda0a phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:286c921d-f274-457d-8081-a4dbb74a6295 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3da2d9d3-5755-4429-952c-51ae9622ca8e phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:371cae7e-44d6-4b64-a80c-9a299640ff3e phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b4d6a086-bdd4-48b5-ac37-b7aacd816ea0 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0e4cd7ad-62b3-4118-93e7-bd9f94b47431 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7b77f0eb-861b-436f-8d72-4137ae993b58 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:da1cbad5-20f8-4410-9021-feddf58051f2 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f48d65eb-2599-4c3d-b48c-69626320e057 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:60416feb-5a6b-435c-bd62-d2ef4c79298b phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8a3d319b-9589-4dba-8e72-236de4705d98 phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ee54396f-b0eb-4bdb-984f-735673e9689f phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:9f051221-fb79-45af-bf2f-4bab4b5a481e phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:5f170101-ee35-4d3a-ac40-41b1fe31f367 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:20c556e1-9780-4804-82b0-58457dd3cc96 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2a017643-32ae-45ab-836a-3e74619eeb98 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c03b059e-17bf-441f-8d95-31d5599f6202 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:983007b0-a7a2-436d-8959-c201c04c48b3 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c69202ae-a562-4c68-b17b-9afa456d4fb4 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a0c55e66-52fe-4796-9852-7500ee028d73 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4c87c114-9af0-4944-b406-7a15060861ef phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:baa2425f-c6e7-4078-a426-c0a6c1c85cfc phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:eb83838c-0725-47cd-82af-9ac6d60c2d1d phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c9efbe90-f897-4e59-91e7-042c3edb0d38 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3e03ed24-3b75-412a-8ae8-c9778bf70b13 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8a7e5ee8-d7d5-4c29-a092-40c12840a1b7 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c7d235ec-4ee0-4238-a171-27f6841c5720 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:775b0857-8fa1-4de3-a1b9-b063fdf93454 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bbc9fb82-2488-413a-8e60-7004721ee8b9 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:583c1d15-675b-4c83-a973-70fc88ac002f phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ee3cbde3-ad11-486a-984b-717347778be6 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:df98daa9-8cdc-47b6-a256-9b95907ec9da phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a1ec28be-27b4-4abb-a2f0-b48ba965dbfe phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c6f00710-b14e-4a61-91be-852d33c36c30 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7802211f-fc18-47b2-bc2e-f5e6677c429f phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c21c520e-7250-49ae-9b09-9bad3a759ce1 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f86486e1-27f9-4b2d-ac9a-d6c8c154c4b4 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:685af5db-edc1-4177-a684-0a6b18d636fc phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:026deb49-7b35-4718-bff9-91c240f88003 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:ee76afeb-3fa3-4946-8810-b82cfae82ba0 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:283ff121-1217-48dd-8ce8-d98a5b1f1f9f phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4f85720a-1c3f-4bcf-8c65-2a3059026985 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b873407f-c55d-4002-afba-c7d9f274e180 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6225b3ed-12e4-4a65-b8c2-9c3ee4480da0 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3f869730-0564-4e07-abc8-3b11543efdc6 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8e00047b-e652-40c3-ac8b-81fdaef5df29 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4b0b857f-5c04-421c-a496-17da38307915 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a6d69d04-e95e-45ce-bd92-2df031ac4178 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2cebf166-b2b0-4a7d-84c5-b04d09ecc7e7 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8a748443-0c08-47bb-838a-0d9e33a1a893 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6bf7a3e9-4623-4fb8-9231-dfdc208e35fd phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:387870ea-a1b9-4cb1-b8e9-f8270e1f1bd2 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fd6fe022-59b5-4f69-99ed-89449bf24cad phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8f3d129a-ff5e-48c8-b116-396b4f336f3d phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c56cce49-863a-476b-9920-e2ac22722972 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c91784a1-9c82-42c8-87f5-bdfeafae6160 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a4129db5-4e23-4cc0-aa0c-dc3d659adf7d phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3cd44b92-cd56-446f-a0fc-5d3a621404db phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:37e7877e-2029-4281-90a1-12e48f33dcca phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d58dddbf-34c4-4d25-9623-72c75ee69043 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:afc27f47-1384-4d37-ae83-f1ce609c9b46 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:4876b182-f128-4a0e-b434-66a04cd0e539 phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:c8c9892c-758d-4ce3-90e8-27721645a985 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:81545315-301e-4dfd-a356-156cd170f9b0 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:25236c28-7c2d-4605-8f9a-8f97effe8b3d phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:1e218896-e37e-4597-a1dd-07284bb8d174 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:f42eccc1-da49-4cf9-9d1b-90b53f35182c phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:d850b48a-0c03-4a39-8523-814e5f19be88 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:fc96182a-b663-4c08-87ee-f3354071c33d phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:38a89279-0bdd-42a8-bc13-8fb7b1db5756 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:9aa19223-9adf-40d6-9edb-8315c3233d89 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:0678c5dc-ea10-4722-99cf-f5023979cbf3 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:3f6ef284-924e-413e-8d2f-cbc79f481005 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:d4d6f37b-126f-46ee-b8bd-529f52148f31 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:eca6d203-d3f9-420e-aa3e-3b9bebf4d647 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:ab098a2d-4f40-4bc3-b5df-82c78d5f643c phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:1912e8fe-9fad-4d27-a55f-bbe07ec7f00f phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:c8251e71-af15-43ce-9905-66771f2840c8 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:dae5d8cd-ae17-4616-a0de-17c6795666e3 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:5311cc1e-61e9-4c51-a6ae-b5955e3ae92a phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:dac4aea8-7eb8-42b6-a9f4-f01621d993e5 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:c04695a5-dde5-4b2f-8ab3-f94c89f2bb01 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:0067a277-769a-4a0a-bb7a-29f0aee1185a phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:a1da28c6-3b41-4f69-9953-c478f1eef224 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:e372c98e-2c98-46cf-a22f-121e139a844a phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:a1f0e534-6b26-4072-a6a4-e380b5a1a669 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:4b051783-b67a-43c8-9a64-68418991b8e2 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:324f5738-64be-427d-8996-2f2607c5374e phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:27455afa-d9a8-48d9-a6bd-de4213251ca5 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:1440e430-40ef-4e10-af64-70c42ca00461 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:9490ec7d-eab0-464d-a693-bd9dc4a317ea phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:80ebd147-b08e-4db7-8155-c4318331e5b7 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:32c5f067-0d6e-4786-80d8-b95fc051e66e phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:b067e168-3ce5-4bb3-b41d-7d984e6e36e0 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:61999dd2-0288-43c8-a568-620a355bf3b8 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:7a0a0f4a-ae91-4b99-b161-3900cc2a28f6 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:acc6ecfe-f2c8-4bb8-a2de-4a9c13673bf1 phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:1320d454-df2a-486e-bd56-ce6152681756 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11175294 uuid:f23faf92-0f7a-4ed3-929f-a8a4b9e0aeab phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11175294 uuid:978c6cd3-c776-4fe4-9521-47d73d279058 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:11175294 uuid:f7bb51f8-f7b4-4ea3-951b-b96c28ce3abe phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:11175294 uuid:e9095978-a8d2-4c85-874a-a556e585d364 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:df5c97f8-51a1-42c4-8d85-332d55ece041 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:efe494cd-7bbe-4d53-9ff4-476530aca756 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:304d06c1-2a9d-4b37-bb1c-a4e451be33d9 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:b3878ae6-3bf1-4cd3-9de1-a4dff74a566f phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a6a986cc-2e93-4b52-8412-1b3b02dd41f9 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:d5d4db61-2637-4d4e-8d8d-afd16357410f phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:92e37cda-8ad1-45d6-9113-0b712864818b phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:33265c38-c782-405f-9908-dbbc0a4c45bc phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:de28b987-5ea5-48dd-9214-d74b43fba1a6 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b321d6bb-5e59-4903-bed3-7b1f9208e80d phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:523a2b63-6d91-4047-851b-3747aa025ac1 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:58751bec-e9d9-4df6-a60b-fdf4e2b25a9b phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:5c4ae0bf-c093-4bfd-bf54-19251fa20b19 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:1dec8545-6af6-42bf-a2c2-fcae59396c98 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:587121f1-ce5c-411a-aca0-34acd98eac23 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b42ad478-359d-4e1e-b1d4-14102a2d5fa3 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:11175294 uuid:d1a0f739-4c7f-4a02-93ad-4b8b8d03ca57 phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:48f5c896-a76e-437c-b894-c82e5aa9e171 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5ced04c9-320b-44df-8746-d04050907ba4 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8cc5b836-d1c8-484e-9fb4-1ccdd475beb3 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f1b5f833-3e78-4ea6-b3f0-a397ca2ef9d9 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f37b20db-31e6-44e6-a8f6-ac7fa63f101b phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ef4d3011-2fd6-4592-954f-2779c17a5d8b phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0c8f9004-286b-4f31-be89-b60bce19e55f phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:952bfecf-0a9f-48f7-81c8-1c9ab7a06266 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:005312c9-f1f2-40d3-a540-0f56af3804b8 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:90d15bce-36dc-4fb4-868c-dd6cd1a6fa20 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1c83567c-7a22-449c-b25c-4891028db08e phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:214615b3-2c12-4dd0-a939-773dcb941f83 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:63f325e2-b1b3-43ad-8aea-9ddf025c86f5 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:679e1a2f-51ed-46c6-9bfc-6b605dc2da9f phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ff57239e-37a5-4f38-bae2-1379b52710bf phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1c3552ed-3637-4ed1-b5e3-9ed6025ef6a6 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:66b5f042-aefb-4902-8b94-b1db205152e1 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f15c5140-e0c9-4ae6-89c2-54c53cffff1e phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dbc1bcdf-8d88-46a3-9cbc-c0d9dea9c7f9 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ffc82908-cd76-47cb-a3b3-faaa3c478d21 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8a4f2258-2f33-4b87-9dc0-a4a6d348d7e3 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b7eddcc1-d122-43eb-9384-eb881b04e8cd phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c96b4fd8-03b2-4ca4-b091-600bd2d83da5 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9c900f5d-e326-436c-9715-16137e3d2c3a phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b9afa3a0-f6ac-4184-8d59-a84f35be5d5b phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e99b0654-74a9-4f6e-bac6-c8c28a8e46a1 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f077193a-dd5f-4c3c-b5dd-6dfa5f2881b2 phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:7d690823-20a8-4adf-9206-c3a51d437bcd phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:6cf79add-cc8c-49cf-83ed-4650021fafca phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f96576eb-0665-4177-9216-659efcfdcdde phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ea824675-3d80-4b2c-a9ae-c04c9dc7b821 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:563626e5-cd15-4ce2-9054-8838ca87727d phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:089de689-75db-454b-aa87-5c5c22723f3c phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:abde07dd-42a2-44c5-b0f1-1886b10b8ac8 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8551077e-1a82-4bfa-9fcd-a1fce5133cf7 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8c093c30-6104-4b44-81e6-4d72852079da phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:359ec22e-3f2b-4d80-8d36-13e617cfac60 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2babd3ce-49fb-40ca-89dc-cdb7cec6e17c phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:68f17389-d1c0-49de-a61d-2dcbacce08ff phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:aefe135c-56d9-4418-9220-2a526c705648 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:39fbe8c4-cd18-4a10-91f7-b2b7013d10a1 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9e456bc5-6db6-46b8-90f9-e62cf0813e64 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c31dd3dc-6a88-4ca6-80b7-32d07b6fd754 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:68802d07-5337-4856-b5eb-f021d3d020a4 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f86eaa49-03b5-42e8-8f16-6302c0750778 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a1a22b6e-570e-4372-a865-617d47e5e393 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8c50c572-6aad-47a9-bf37-88934b0f5053 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7893b4d6-cdcd-4a3d-b2c2-78feb022e532 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e51769f6-bfb3-42d0-a8fe-f755429209b9 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:50734837-3528-444c-a6b7-ecc4a8848d0d phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0621127b-8dd4-4189-bb17-2bb50e6eec41 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1974d12b-e241-432c-bada-de8cfae099de phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5c03cce8-80f0-4a4e-b5b4-0a7ec5f47822 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b506a09f-c564-479d-bd0d-16a152298bb2 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:be5b6f28-b1a1-470b-8177-de9a4819b168 phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:ce1669e4-776e-40e6-8e02-c4ea4a0ff57c phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:98dc9ce4-9757-42af-a029-562b3f48cc1a phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:065bed1f-3bdf-4de6-b5ff-4af4d11028df phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:90be8814-b5c8-4573-829b-b4948204af05 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e8c2d68c-15e4-45ef-974b-096eb73859c1 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:98db0fed-9f06-4f69-99ee-d74b35737b34 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5750fd63-071c-4f65-975e-72a7a980e7a7 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:75b59238-9e60-4895-af27-268cc38bb283 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5a1d6497-ee39-4f23-8e16-dccd4d8e5d84 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ec22f4b6-eebf-44f0-a1f2-7e93988ca873 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ff3eacec-16cf-4272-b000-030a95980642 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a242fc54-da25-4b55-94fd-ec7a346cc679 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3e1930ad-dafc-4a3d-9c45-e307c6c700a2 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:dfefc29a-f3a9-4e49-ae50-ae943515f2c4 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d40df8b5-a84f-4aab-8dbf-bc4822615f5a phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:742fa0b7-47c9-4ddd-8ac4-0167da5de781 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f45b6ff7-ba8f-47c2-8485-63add6371c7e phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f2b0eb57-b6af-4d47-b520-51d39791eace phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7d343044-5bf9-4e8c-9c36-bc7175cdba44 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e0a839f2-1e55-44c3-9eac-43f365999686 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d94ba9ac-8f73-4d3b-9085-d55d1f2f1cdf phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:de7a9a5f-67ff-47c5-9dd3-28a15230c333 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:7ad1f3ad-e92e-453a-bb52-10b7ce0a5aeb phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:6059f5a4-9f6e-4600-88b7-2b6a58c844f1 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f176f76a-3e5e-4536-8451-6b4a93cf0690 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8664fa03-926d-4d00-8948-651244f59a5d phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ef74f2a3-ff6c-44b3-ba8d-5c1b0b799489 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6feb4156-0c2e-4906-958b-4f3de88f73c0 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:00898ae3-bc83-4649-8487-02363be8b86b phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d2d28e0d-8e65-460c-9fb8-161ebc7431ca phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:06ea4dba-684f-41a6-8e0e-6b245999700f phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4d9d8025-0970-4498-87ea-63ee5ce149b8 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:15d11aca-7ce3-4e6c-84c3-e47fa18b798d phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:fcbba885-9091-4d63-8a71-29e5fb238be4 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:476fbd47-cecb-446b-b5d3-b2e37c61825d phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5aa2fd74-7f42-4d99-9000-8bdfecf1d7d7 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7943ba22-2462-45a6-83ae-da41f41a5a3a phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bafc79ea-c6e0-4dce-b424-2c42a5ad31ac phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:26b82f07-bed7-45ca-b297-1df6b4c589a8 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:26bbad6e-9176-45da-a027-e4df94c30dff phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f4e21aed-66d2-4ce1-9d6e-20fdfd968cbe phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e8d4f24e-ba61-4093-a3a3-f8814bda00e7 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:567fc78d-346b-459e-91dc-b37d5606de1b phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e4b6f797-dd38-479b-86e7-296101b2bc86 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a5e7123c-569c-4267-850f-6381a5892028 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3077cd23-5ffe-4874-ab6e-dd2b8d7e3a4e phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cb097f60-6e11-4608-b519-71c740dc6fa6 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:52fc88d5-dadf-4e26-b7f4-537e448f1924 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:91e3d989-0472-4275-8ee0-f2048b0fa609 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:da8c7c4a-d79a-41cf-afd1-a44edfdc9ba9 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:b1a7f793-cad5-40dd-ab3d-d71d2edb6533 phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:b451b96b-9fd7-4cbb-9fd6-7a9036194a5f phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a23f03c0-1eb7-4d62-a473-cf06e1b49057 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a912e4bd-3909-4948-a652-bfda810e2d98 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d9f3e103-b608-4727-8dda-ee4aea85f318 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8890b315-f362-49da-a2d8-eb94be478c73 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c703bdda-51a3-4bc4-a66a-0a531563e45a phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8025c1f5-9978-4f21-81e3-267da753aa22 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:3ac3d196-c579-4195-991a-5d545124179b phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a37e20cf-ce4b-4bf1-bc4d-731426e4ba4d phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c7649fd2-aa18-4851-ba33-e16852b082bf phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:34196b21-f7bb-4a96-af67-8106cc591146 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7f8252af-b759-48a5-9406-5672c06f95f8 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a7b3a770-8882-439b-b1a5-696ba5a6b9bb phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6a7e98ae-f29d-400a-abc6-bc807122ffea phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:68378968-efdc-4898-978b-0da0026ba7b9 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dca2a203-f44f-4f0c-b5ec-018f18054f10 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c4228529-1dbb-4613-a5b5-2523f0608d55 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fec40ac1-c388-4f7b-84e3-d085114509cf phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9af193d0-b76f-4f58-8b07-d27becd7460f phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:efd87ca0-dae6-4aa7-b36b-b63b5041c289 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8fecceaa-5272-419f-ad75-6d88feb30952 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:15f9da54-893c-440a-91e4-a4713439ff4c phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9062d4c9-9d1d-48ca-bee1-34ecbccda8b8 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6983a85b-2f2b-4bff-96e0-550f094e7550 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fbd3ff1f-9d97-4b12-9cef-bdd03711a552 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a1542aba-3259-4065-a61d-8a4e720bbf05 phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:b9ee6318-881e-461b-b20e-e6a38b66783c phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:3521ceb5-18f6-4063-bc18-cb7ffe4e9235 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:d71fa1a9-380a-45a0-91c2-92e8bca8e7d0 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:700eeb97-806f-491f-a28a-d487c2bb0648 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:8eb6f32c-d840-474d-80f9-d617706954bb phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:18dc14c7-3bab-45d2-9174-7f46b6b36004 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:ace8cba4-6287-4fe1-9f44-e1254dd32f3e phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:20427999-b758-433e-ad33-ce0992553563 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:027fdc0b-288f-4ff8-b66c-d0227a1864e6 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:64f33d0d-cb62-4375-a96f-611b3d32540e phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:871484ba-9d33-4a7a-83ec-94f70fcfde6a phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:1ffe36f5-266a-412c-9a5a-ff144eca6811 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:89c1832c-f7f2-490c-8c52-cd43f2b3f2e4 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:fd66a141-f950-43f7-a309-466447845455 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:9a7c7416-34c9-4b6c-9f19-916a2e75fda4 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:8e39e888-f1ad-4f37-bf78-c510e39f39a8 phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:3d93427c-bae7-489a-8690-beffdd9b228e phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:66d9d032-fd4d-4598-beb3-b78a42769d10 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:e515ed25-ad5b-42ef-8804-fa9d2d13a550 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:080cbfc1-4ccc-422a-9661-e6e0e8a1f228 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:998abeb5-f28e-49f9-af38-1380413299bc phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:85d62adb-0973-4dec-a54a-7e7fe2dc73bc phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:7867e7fd-ec4a-4be9-9179-db0f0a8855b4 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:c8da74a7-22db-439b-91a9-a27cd41990ab phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:5cdcde34-ca3a-457b-8d67-da767170c49b phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:a016b49d-2142-4858-88bb-0ed2ac72cb07 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:3755f288-903b-4e5c-a85e-5b7e2c61a3e8 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:332102a6-1d5a-4594-8df5-0d84907f00b1 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:3bedddba-36e6-4239-81e2-389a1b978ff2 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:a91001f4-b9ab-49c0-8a94-07ef000a3157 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:910dd3b9-98d8-4866-b71e-23490ed0544a phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:af767b92-cd5f-4402-852f-2ba003f41706 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:b4466082-6b7a-4889-aead-2be36623580c phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:33576469 uuid:a1b88c48-cef4-4563-84f9-1be3c9c42ae2 phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:f5f9871f-041c-40d1-8614-0eabb608412c phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a78a587b-1c99-4a8e-ba2a-654085d8f6b7 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:9b545e87-4765-49f7-807a-06df6bc2bd03 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:422872df-16c9-42eb-9190-f0e85a7aa554 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:c51a2b9b-f9b5-4c2b-9318-565b81b4399b phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:e8508417-285b-4452-ab09-31404f6c2e02 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:671300cf-d806-4658-bd65-32077f86793b phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:c464fe56-fbe9-4aea-99e4-cb240ea2d19a phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:8223543f-5afd-400d-b36b-b5561c9f4d4a phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:d3c8d6ef-c5fc-42bc-977e-498b2dc0592c phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:45e5e51b-3a1a-4e9e-97a6-0041994a63df phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:42860b93-7726-4d9f-95e5-532caadb6bff phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:821cae67-1753-4fb3-9416-129830c28be9 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:5c7f3119-9b19-4d4f-9163-da634a57b3a6 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b980b30b-350c-4d46-a8c2-c34144cf4862 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:0116811f-32cd-4b8b-8834-67c1e01f5cb2 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:12fb3e22-6457-4c03-9ba0-72558abb4145 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:8e644f66-0699-4a03-9c9f-61a513b7315f phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:36c72361-ed7b-4fe1-9994-3d1a102d0a9b phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:6e633d5a-6bdf-4a9a-a67f-e01ca1cd63fa phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:09b78000-79af-416a-8b0e-1d59ace72931 phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:98567f23-54c0-4034-a53c-5ebec274c1ca phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:a5df7412-f447-4164-be56-80148a52b07a phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:9d51a0a3-5680-4f4c-ae49-98a47b6267b8 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:48743a3e-1ea0-478e-9910-bb65a74550d3 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c9330661-f252-4b7f-a089-3781f1b23d0a phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0b46a7e4-699b-4e72-ab24-2d7fbaa688b4 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4bb34a49-451f-42c6-acc1-3ee787a47b83 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f1e8d027-9c1d-4e2a-ab6b-ebe1b6347d0d phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1bfb1e4a-fb78-4de0-8def-8c60b5163957 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:db341c00-7e08-404d-80f8-bbaa75037ca8 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d56d0ece-9ccd-458d-afb8-d15f778d8c78 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8e69d0fe-4173-4f59-ad40-f77597c38004 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:853baa1f-35b7-4dd8-8f7a-050289be56df phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cc7eb7f1-9c7e-4357-bd33-e30846afcb32 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:47de7c90-a316-4b17-85b2-3a087ff96dc9 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:292df4d3-82d8-4124-a20d-e8432abc85a2 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e715fe67-a7c1-4c61-8329-3273a190150e phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4059a59f-01a8-40dc-9af2-3d8f464a2890 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5593e644-6f87-4f62-9f5c-9fdafea5c20a phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8cdf108b-b794-4e35-b490-fb6ad12f56cd phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:37668eb6-f141-464c-be64-114c1a10e510 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9c5ae3d2-7c69-4375-b17a-78ad062bb39d phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f4ea48fe-301b-493f-9171-976a555d85fc phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a0497d88-a4a2-409f-87f8-8b0b1b393f69 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d9ff282a-cb4f-4a01-aeea-1cc88779fc45 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b210951c-541d-40ea-bce9-66e0da7f4227 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f12753b2-61c8-43be-ab3c-7f52f26a613a phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:31dc988f-9882-4b47-88f2-a5aabd7a45a5 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:fa76faea-38b7-4c3f-8a3b-ca6e56604812 phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:2dd9ae35-19eb-4f8c-b1ef-4f370abe4038 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:10756346 uuid:735cdf8c-5092-4a4c-be32-c9124f90e1b0 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:1f53d73b-6c91-4401-b2dd-1ae44923a034 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:64bc2ee7-1d5a-42b2-9a26-bdd2a06172a2 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:5476eecc-dca5-443a-b2d8-6df4f4d48964 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:3d8ac3b5-7aad-499b-957e-7bd3921c5a36 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:6362e3cf-aed8-4054-a5ee-fe7a9eac3e8c phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:fde6ee06-c2eb-4d9f-9023-7db912ab0ec7 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:de699eb6-475e-458b-8815-2a266e6db220 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0012499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:0d640749-ee41-4e65-b344-c7181fd4f1e3 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:232a7622-cd3d-48ad-a88e-6bdf9450251a phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:643e4194-cbb4-4e12-a740-cef22c57f08f phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:4908fed5-c4d7-446c-81f6-0ea4eecfcbb0 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:fe4b71e0-f17e-482a-abf3-0e90471cd90b phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:c83617f2-8c2d-4565-b045-942288d62326 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:0c57f006-5c0d-4de1-9072-e066e6f339a2 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:7fa51a8e-b740-4995-ad09-bf32b8a2ae64 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:c3cbf327-ad60-492c-a926-5bf3ee3aab8b phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:e45b0cb5-5281-4ee5-a327-286098147f62 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:088cc2fd-00e4-49d2-bc0b-4da52eef8708 phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:af56aed8-ee38-494f-b96f-a0a8fe03eee0 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:b834968f-23f4-4471-92a5-52234a10edde phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:65e79a29-c9d0-41af-b65f-1fe901a8e945 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:ccc1f8d0-dd28-47e1-99ab-670fd8b6fdf4 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:c598702e-8634-42ca-8e37-eec1516b63e6 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:919510a1-2a0c-4541-acc9-6145020abbc3 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:e913c0a3-5e81-49b7-a2e8-817ed0f57905 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:03f4527a-a559-4188-b4d9-99be67a50453 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:52408195-1c25-4514-9f92-231c60229a19 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:5216c800-2f88-404f-b323-525df07c41c6 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:84f2cb6d-31b5-4692-898f-eb87cb8e0a04 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:6c5bb6b5-66c2-4b0e-8eb2-0487b3326334 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:a5e3420d-62cc-432a-863c-e2635b8d2290 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:514fe480-3835-475d-8cb8-ffb4c3fee4e0 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:da8b1eb7-0708-490a-bf44-06e0f7a37a30 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:8c19132c-b081-4509-a749-ebea4e1febfe phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4c9404ed-f17b-431c-961e-6085ae43bc51 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:1019215c-2869-4bb0-a136-e09115b3cf6e phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e8fac9fc-1bf0-4fd3-836a-77eee6a68a10 phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:3a206ea6-104c-40d5-b9f9-355f36d23c0a phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:5089b216-e62f-4f43-842c-28de8c5cfe6f phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:35d027c3-84c6-4f68-8696-b1021a871667 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:94a00fa8-cf48-4c05-b763-29472cd5670e phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e1ea453a-fc30-43a7-ba22-f06bad997186 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e79a8cb3-01e7-4bca-a33f-cef9bbe0c2cc phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a3900acb-e1ac-40a5-88ca-0c3fd956ca61 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:db6dd133-4e7a-47d7-a842-d327e9401560 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ba3a8aed-15c7-46a1-94f0-c36521b08e0a phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f509f7e8-a122-468c-86ba-5a08834f2ab9 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4bba4ac1-9e2b-4953-801e-fd1d9ff9ad8b phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:da5c6d21-b1bd-4368-9ba9-d12e55a1e093 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5b2aeec7-db0a-45d3-885c-d6469f1c978c phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b6abeaed-d61b-4dbf-8442-61bdd23d6357 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4e2e6ba1-d3ba-4123-b372-ed4e9890b7b3 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6533c29e-c33f-45dc-ba0d-4c351ee914d5 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:25b670bc-63f8-405e-b465-da7d59fdb835 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0edf684b-f5ff-4b90-9c64-78b2af5659fb phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8080116a-0ac9-4b5d-b08f-45c6c5a17df2 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e926980f-bb3b-40c8-99af-3e262b88df77 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dc0eb97d-f621-4f71-849f-ebd391903e26 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a567906b-f964-4563-abbd-d3d072eb0d53 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:594eec4f-8783-4428-82f9-5e22b8c72c27 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c8eddfef-bee5-4186-b7a8-c5d293fd262c phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d2094b2b-0a3e-4bba-b426-14c94f2ef9e2 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d59e879d-034e-48f6-842f-71a601c56131 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:61a664ca-7a2a-442f-a673-5ee1bcd8defd phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9da3e4a4-c751-4534-84eb-90a9e09f7b9e phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:5e848bb5-2836-4a95-902d-5f36c2a2bcd7 phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:067e8cb4-06b4-4213-b5ac-d2ceb378604a phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:60285e12-192e-4612-9a03-61cd87f2e50a phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:52fc9745-0e66-4f1c-a794-b9cdf0b69134 phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:1873fdfc-5f60-4d02-a263-8fe7031ed8d6 phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:e497586f-691e-43f2-b4c9-dfdfbb70414f phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:c78dd0e8-9493-4fa0-a96f-407fd2c0e673 phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:f431fead-0604-489d-8e6f-1e9503eb580a phenopacket.store:FBN1.PMID_31527767_III_12 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:10d3be93-3674-4ffb-9e9d-b003c56d92c2 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c333fd37-62fa-423d-991e-97901821687d phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c3016695-fcff-4cf1-b81d-45c75f2ea9a5 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8d45c240-6dd7-482f-8dbc-b2dfd26f9766 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ea1dd850-8606-4410-9838-e41a2e418c47 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d2c4b41e-e27f-4502-9893-a13b8c5d2980 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b6e2fdf8-27ec-4b3d-8ef4-5d1984bdace6 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:445eb017-47a8-481a-acf0-27384c388fbc phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3d180cda-a0a6-4736-b5b2-ed0e9df5b34e phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:49c94b0d-0dc7-49a9-bd6c-4c3ab5a1f54b phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:078ee84d-af7c-4215-9bb1-e3016d2f0bc1 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:08b66c00-892f-47f7-945f-3e3a051480f6 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bc09f746-0a54-4d80-b653-d580ff723a38 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cdc605fc-fdee-4d17-b293-254e97c5261b phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9a825b12-544d-4bfb-b723-081a71c9a0a1 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1ff59dcc-a478-4c82-bb6d-bd8530b0ce41 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b1d30cc2-94be-4a0e-981e-d421485762e2 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c7ed5679-79be-453f-a0fd-e25957c678ad phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:38f295e4-4c85-4112-b62a-48c5d249395c phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6f27333e-1766-44a9-ba5c-1a829543a28d phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8c794183-865c-45d7-9dd4-41b4cabc0d6c phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:11eb4f43-79e4-4017-ba68-b905ccc9cc3e phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:9c31175a-3119-42a3-9c7b-9cc1b1d1f032 phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:f812e0d1-7bf5-406c-805b-81fb6cec09d9 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:3fea1b38-7ef6-4bcd-893c-8bab073d0cca phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8ce8b265-4021-42bd-8019-fef4b86bcefc phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6f66f33a-971a-4a10-a12b-eccab8fe710d phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1c879bfc-d09a-4f5a-907f-1126c88f21db phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d398c39a-e198-4674-ba48-8eb86bfda786 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:28b48f24-3f6a-4a3b-84c0-f8de86e81c80 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:793358f1-0859-4b52-9ffc-1c1da14e861b phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:02b82b0e-ac0f-4659-812f-dd5a9e76c617 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:eb3bb0ed-f552-4f42-aaca-5d983e428cf2 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a5584ca5-fa8b-4e91-9270-fedea80c0a30 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1c0cf840-9d7b-4aa5-85b1-72f10fb8bf24 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6b4d69bf-cd23-4c2c-93d7-c512536d9004 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fa23a07b-3b37-44b0-bd0d-be466d5193ec phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cc8ad8e7-d7ab-4a77-a306-fd45fe920ac4 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:86e878a4-1666-48c0-80b2-86cb0085b913 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7a7b7803-c944-443e-8168-f03e6bb3b015 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5c538498-e56f-48bb-a770-58d60d8e9a00 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:29513dcf-2a6c-49a1-99a4-83f5c30fd965 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:20179185-1d1e-4a8b-b569-82ee04c72e09 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c4c51aff-577e-4e68-b6c1-23597711e705 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cfe830d1-858f-492f-8cd3-cd720585c6c0 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ece4a804-98a0-4fc3-a392-2398c8dc236c phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:646e02d0-e364-4001-baa2-29c8c30862ca phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:81d3dd98-ebb1-4f78-8955-f3ec191bd63f phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cfd1ade3-376b-4bda-9d9e-c47ae50e57ef phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:be0c564c-85e6-4e2f-a435-4a78201b33af phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:e59217d9-2829-450f-b55c-abda39e124a1 phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:1e21cee6-df9b-43f1-aaa3-4f3a78474af0 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21594992 uuid:eb56f6ad-3ec8-4f0d-b40b-280cf7c82d93 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21594992 uuid:74738b0b-8156-4fee-9721-51a0f315d7a4 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:21594992 uuid:8b58a58a-470e-47a9-822f-49fcff2c30e8 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:33dd4b44-50b9-4305-a6f3-49ce29ffc3ef phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:a16b2086-7cdf-4909-8abe-2bbb199456bf phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:ae84122c-358b-4c3d-8fe0-7f35170490b9 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:e6dd7f56-1d12-4e61-8e58-7a2cbd7eff85 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:0ad28881-c3e3-42b4-9eaf-6831af3c0014 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:a03e01bf-2dae-4d85-bffc-e3be3f2941fd phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:56b99b47-2611-4c0a-a90d-89aff848e3d6 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:739a1bbf-46a7-4d6e-aea0-bccb3b8dafee phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:56b5dd18-9c40-4b54-bc53-b89b4c241ce5 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:47ac3dbb-633c-487c-ba0a-87f824326ef9 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:aba23167-34c7-47f9-ad26-e6a235f7b968 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:512f39a0-81d8-4653-82c0-f558537f1a71 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:aa2353a0-0d95-44c9-94a6-f7e42197df69 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:1437d27a-2d61-413e-9496-97b7716d742c phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:57de55d1-6a4a-4641-8990-fa159d2d4fab phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:78a1599c-9702-4e00-92fb-1332a07ec38f phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:add5fd60-2a12-45a0-a0fa-427b2f7cbcfa phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594992 uuid:41140961-c142-486d-888d-d80d193837f3 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:b2306d98-6e9a-4977-8bb5-294a3c95d86f phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:312f8df4-59e4-4143-8240-a1153c575c78 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:5f75e37b-3d2b-4bd5-bc0f-68eb79242891 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:737ff17a-42ce-4bf6-85fe-ccc923c7cad7 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:6b60c2c6-31f3-4298-b763-9970b5709d2b phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:f10b9d06-8daa-4571-8078-b95783d4d86d phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:be83e89e-6d7f-4f5d-95ab-8376c6f9e564 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:fdd0a47e-522f-46ce-b373-16592c27352a phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594992 uuid:2c2ca7e1-55bf-422f-b763-bb984d2846b2 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21594992 uuid:2f29fdd7-3307-4821-aba2-d70fa93705a0 phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21594992 uuid:9acab38a-5e14-4a80-8ae7-6a4f4beb2022 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:6b340189-1991-429e-b65a-07ce23a4d74b phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:0be799d9-3f6f-40a1-afa5-058f8360b9ba phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:9298d8f7-dded-41e9-81d5-8342c1c72bfd phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:b82debb5-49b0-4b81-b310-6cd47c257fca phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:fbd4ddc4-820b-407b-b0c4-a6af1cbabeae phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:25310a69-45bf-4068-8f74-52a05e8dde6d phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:8bae28dd-83a4-43b9-b584-faee0669f310 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:9c977d96-3095-4163-b7ba-015529ba5be1 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:2260727e-a5d1-4bcb-874c-ee36e8795342 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:d1000357-839e-4805-9530-d4201ec5f82c phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:e0625451-cf5b-424d-af62-f1900b0bb6a5 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:a57b40af-c185-456f-974e-de935ed333be phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:a5e5140c-c8e1-40d9-94ab-1cd4b9babbb1 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:95c85f1b-6bda-4223-9b31-368cf30036d4 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:2e0efd81-506f-4da7-80e4-4461c67b7070 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:22736615 uuid:1fc38e4e-c7e8-48d6-af17-6bd5021866b0 phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22736615 uuid:e62acd75-6da4-4fef-a575-4d048076fc21 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d2f4559f-de8a-4474-9cb7-ce1f6ff6d210 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6a466358-a3c2-4bd8-a397-8a44c746f6d0 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0dcd38e1-eb18-4189-80b0-5c878cc6e709 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d9aaa431-f2e3-4eb6-bfd5-95bcc87d1734 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e2284c37-7627-4993-a32a-deab30b0acb9 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3dfdc865-88df-4989-8ae1-29d3370a1c4e phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:294a18d4-2058-43c0-95c3-44ff63601b14 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:33fadfcf-b806-4f8c-add6-d384408c67c4 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:fb069169-e46d-49a4-9d06-2b2bb408c08c phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2968044a-f809-4053-bc8e-e3953d988ff5 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cb0cce9f-f0eb-4a45-8c53-5cc90f261bec phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:15de8a71-4f34-43f7-aa1d-68db4d4e3e67 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:63c22a07-7a4b-4cfd-b45f-1f3fe8508653 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:61c726af-c58e-48dd-8d17-67341250e040 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:30457040-47de-478d-b85d-44b226024ecf phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d68b682e-0548-4a1b-a854-78a053495b23 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:875fe9c2-ae92-44fe-bd70-302d1675fa67 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:da93636d-250d-4281-95bf-9d3a284dd87a phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:bdc9cdab-cf50-46fa-98e3-1feba849a576 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8ef526d4-b15c-44ff-a148-a5f826d48f82 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:45eb7223-75de-46f0-92ac-d1d8e4ebe2f3 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:27ce7cbc-9e13-4886-a424-29c98c7bc77d phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:93c12d1b-95a4-43c0-b14d-1947826805fe phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1fdaed9a-adf9-4dc0-9c95-7b7cc6105dbc phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4819f96c-5201-458c-85c6-385ca110ab39 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2ce2321b-85a2-470a-9089-5d1afb7b0fab phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:e5133955-38c6-4c19-9294-72176d6a1a23 phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:29aad6bf-1d89-4409-a831-6515471777cf phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:6571b9ad-10ba-4fe9-9a82-e4bc83f0160d phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:96f32fa3-a60e-4d3c-844f-af566151db64 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:690ed6b9-be5d-4d3a-ac59-72555b993582 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:a8d99fe6-53d3-4d80-88a2-e5d85c534a3e phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4de27bb9-9147-44a2-b1d5-eac98acd9a0b phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:f49a125a-7ddf-4b03-b7a4-823f90430d41 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d91da0a0-4647-49b3-abd8-73cc1668b55f phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:620e3242-fc10-40dd-9791-3249177ad224 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:dac3e65f-5092-4d9e-adbd-82a26fc40e17 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:572eb8ec-382f-4664-b0cb-83e3f485df26 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:082f0857-8697-42dd-83aa-941c02fb69e6 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:35a5cc5b-dedc-4000-8be7-51c5cfc7a5ba phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:1d086da5-ebf6-473d-808e-f6622c6d1a53 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:bb8714dd-656f-4851-a2b8-da0e64d91a14 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:38d68bbe-5ab6-43a9-a64e-5762836a4bea phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:ec25bf10-9dde-40e1-a8a8-0db706f6b044 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:566f1555-eb6e-4b04-b17f-c8dfab96890e phenopacket.store:FBN1.PMID_22219643_III_14 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:e158473b-4172-4334-a30a-b44de3829aac phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:d5355d5e-0116-4c7f-80bd-8bd2b33d807e phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:f2872f50-8af5-4459-a940-aa9d99a4be2e phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:4d11329a-4b4e-41cf-9949-fc0286c4245d phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:2167b2c4-268d-43b5-8c41-d6bcd21799df phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:c22a9f4e-4787-4705-8686-f9af5dd03a60 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:1a2e95f5-4efa-400f-aeea-9ba3c66c06c7 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:dc9343b3-848e-41f7-96ad-114975dd52b6 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:6ef1991e-6df2-4b7d-afab-174de62cb57f phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:4ba87b6b-fee4-4cfd-a53f-fbfb539f4852 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:999b06fd-2cf0-489d-a357-5e5e46c06369 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:d17e55e5-8dd5-4ea6-bb39-68c738fd7170 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:438e55b8-4275-4ab6-9939-d4e571a0b72e phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:43673d4f-c496-4bff-ba07-1315dc1901a9 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:8f1a5b9f-f169-422a-a85f-38106fefd706 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:89143900-1293-4cc2-a5d5-0b57bc02e969 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:22736615 uuid:5f9ed30c-e579-44a2-b012-e686d36f7023 phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22736615 uuid:0b187fde-29d1-409e-a344-fdbb834775f9 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:623c815d-b87f-4945-8de2-5e7ec23dd529 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ffe5e61e-1703-4651-9d43-81ef0abaae98 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:02033daa-a5b1-409a-9b7f-ca1f71f2c836 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:75cc3171-2c66-423b-b594-617d7d2bdc0e phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cede2253-d1a6-4043-98ef-dcb092747c90 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a9763012-b5d2-4a8a-9eed-7d93fc2c9eeb phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d2be8f1e-19cd-4206-b691-c21faa294594 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:69369a68-7ed7-4512-8ee3-78c44a748769 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:25880304-d9f5-4bb2-8b95-c677b735eab7 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8c8b01ec-cf17-4e34-8858-b6f1807e2480 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8331db6f-1b17-42f1-bf69-28235ddd9a0d phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:42524733-9935-4563-b8b9-175568ee7792 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9618d57c-5a97-4c79-ad89-3d6b63b97c6a phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:bb05e5eb-040e-45e0-8f8a-ea06d4ec4cf0 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6fd48e18-909b-4f82-9e89-adc0604d5f30 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7bd1bf9f-2f6b-4d52-a221-f12f1951d75a phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fc785029-340c-4ae5-80b0-8312ec98da04 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:eafc916f-52d4-4b37-8635-a685a374b011 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7fbab1dd-0c24-4b36-8aff-d5c09c851a12 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5be1f465-ec67-4045-a83d-25aa59db952c phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c667d99a-6209-402a-bb6d-8f0f1a6769b8 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2d203954-e7fc-45d3-b773-da8a366530c4 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:401b3422-cbb3-4c6b-9a4f-0cbf3297034d phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d8d45299-52cf-4a66-9532-de4ed187ccf5 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d50b1858-0f6a-42bd-ad1d-f12b6a23298b phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9524af86-24d5-4115-b3aa-468d3cb4e99f phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:c531b17f-e470-4e69-9971-1dadb7e24bd4 phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:74722ec4-0985-4519-886c-eea4ba43cfaf phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:20979188 uuid:70d2b810-a838-4842-b7f8-03934c0aee10 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:20979188 uuid:86062e21-5498-4312-8d2e-aa8c37b27f5a phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:20979188 uuid:9298836e-9cc4-4c60-a771-c4dce649fc3d phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:414b867c-171b-4bc1-9be1-fdfcdccdd186 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:d855894e-b84d-4960-98d0-ced61fdaeb50 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:1e188b19-5124-4393-8056-eb5359eb0f5a phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:20979188 uuid:8db2eaef-768b-4a9d-9358-8c662395bf8a phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20979188 uuid:e2ce00e2-a094-4a73-8e02-12343d70bc87 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:7374d180-d05b-42cb-8957-37d91e990f99 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:25293fe5-3755-4da5-ada2-25c6a8f212a7 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:32119b2f-7c72-420f-9c1b-e9f68c773021 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:d705e465-6ebf-447c-9906-c961276f76c4 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:ce73795a-27e0-4efb-8a31-2f8b6cdec793 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:9219b3b4-84d7-4928-b749-7a38045de543 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:34cdbb0f-a9b6-4ab1-9668-9c9824cec479 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:e82f4f1f-8db4-4c41-8a1c-a0a08ffdfe19 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:d7b6783a-3ebe-477e-a5e0-d08e8064c197 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:72084f9d-c110-45fe-bbbc-78b2302200ed phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:7196edcd-3a36-44bc-b665-748b2f147973 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:241a0439-263a-478a-afbb-00c0cc20b0bc phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20979188 uuid:36a0d7ef-6519-425a-b417-c73f905e4130 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:8f4b4d4f-f9c5-44fa-8e81-e035db0ca249 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:114cffd8-1a64-45ba-b975-e2cfb9fbeb42 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:8b4eabb2-4814-4cde-801f-98d681feb301 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:ae26fdf1-3729-4ea5-85cf-27e6e397c11a phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:f237689d-e6a1-455b-b79f-ee49677e5ec8 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:01dca182-55cd-4035-b0af-066e5943d717 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20979188 uuid:0d5a2b98-f167-4692-9b1b-2055a8acec64 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20979188 uuid:08020958-67e1-444f-ac5d-027a820076e1 phenopacket.store:FBN1.PMID_20979188_patient biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20979188 uuid:1a63d7d1-f690-4a1b-890e-2a6e6cb58daf phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1e571c4c-b6c1-42ae-8b4f-99a44bf8b916 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c810f62d-faca-4717-832b-a65457a57ffa phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ac9cb4c5-096b-4603-8e3a-659c757505f1 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a2bc811f-850d-40af-947d-74250708ab6c phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:53c0f217-cee1-47a9-a320-0ad2a42eab92 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1972ef3c-4f95-48a2-b8c7-006a9b1a4f4a phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ca4b0d3a-0c6f-4399-9839-0469b3e959cd phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a0abda8f-9238-4868-92e9-8422874c75ac phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:939035a1-5485-4664-a518-4f576e978928 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:83c52ddd-93b5-4de0-8c76-b524b42774bf phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fe2fdbc5-2dc6-48a9-8794-1d820108cd50 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4e1e2051-64e7-4069-9ed3-7ad769b7ce17 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:da3cb4d5-57a9-4d27-98a3-65e7a9e949df phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8b4f3251-9f6e-4b80-9863-40f63fe2abea phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:645b9827-7059-40cc-801f-17f88e7e1336 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b4e51841-375d-4162-aac8-92fe187fdcb3 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3bf2ec0d-1cc8-4765-a533-5112b8cdbe19 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6687b0ae-8db7-4f22-8a4d-419e3b11b25a phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:657c723f-dcc5-4ea2-9f4b-1d519f485122 phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:622098c5-8d82-4173-8379-724d31796b8a phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:3769d9a1-6f77-4400-ae81-e4e3015e9fad phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:a3bfb9c1-addd-40db-ba17-6face24c5794 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4d7b48cf-cf0f-47cf-bc47-f396e697c0e4 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:839b25c8-3301-4208-87a0-24e648b5eaa1 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f5cfa7cf-5113-41f1-b18f-e9ca9d56aefc phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:97ae7d0e-b4ac-4808-8dc4-d82bc7a01941 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9c770fb4-e800-4263-bba4-72b0c6cc2a90 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:af53ac96-054e-4b07-92ce-d0743a414d3e phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b9c75079-8224-4595-b41c-9516c0915a3e phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d4d2635c-0884-4e81-9bdb-f8b6c1e7340a phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a1d906a5-765e-415a-9aa3-cb559fa28be2 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b9050fa6-bb5f-4b0c-b3ed-ea2d0fcf317a phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9aac70a7-9b9b-4433-a505-26546f839521 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3e8c299d-277d-4965-9628-d2629b4f21a9 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:01dd5c32-0fa0-4861-b130-fc4eb8bc4129 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3d6bf8aa-6513-4bb6-9d53-f95bcc310ca8 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:815d68e0-15e5-48d2-815c-29dd033967cb phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:67df3d3d-4605-46dc-aec5-7ece255a299a phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5bcb7021-0233-4458-a614-333b874dc310 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3ad5867c-2bb2-4f46-ad72-ec4a35318063 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d67cbf01-d86e-414f-acda-b1a0e76acd0d phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8a2e72a9-9d51-468b-82fe-8563411c97e6 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ee3919c9-229e-4389-95ab-bcbf71330c89 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7fb6c757-64c2-4211-bacd-755a3a32766d phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d5fde9d5-4ffa-4b4f-b009-054dd6019e9c phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:633d6e41-bc8d-482d-b26c-1c6137c72366 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d9f24857-18a8-4d8d-8757-97cd482d8102 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c953041a-93ee-443d-bfdc-dbebaecf1055 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:67ca7e69-9b4c-48d6-85ec-be5e652d4eba phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:a1afbc37-53a2-4558-a08d-63882f9bec96 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:def0b6f2-d240-4605-a53e-b61d66b12807 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:0058263e-106d-4cbb-8265-bc7da2278457 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:4b9bf504-2f61-40e5-9e9a-c0d9c79d378f phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:62d9f424-7006-43e8-8a41-746d0c58c49b phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4f31be49-39f3-40bf-bc87-633b2d868eb8 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:b52807f4-282e-48db-ad22-67b531f93ed3 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:cb7c408b-e1d2-45a5-b76f-b1a70161ae39 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:2227017a-8093-4bae-ac8f-57b8fd677891 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:124de048-07b3-4ee8-b0ac-665804dcf3d9 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:95e1385e-1f06-401f-917d-c71d5099af5a phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:2c2d1f9f-0a5c-42c2-b559-295470daf3b7 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:c86b8a87-c8ac-4c4c-8c23-16177f11cfdf phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:e48850f6-e37c-4f06-9f98-dcac51b39099 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:33a45b82-ad22-4680-9fc0-e9e5fa2581a5 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:1e952e04-3042-4454-bcb6-db36a53c174d phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:78ea04d7-b048-4713-8c02-a09873523fe7 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:d2d2a0d0-4e63-408e-a4b3-096de280c2e9 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:089e374f-3fb1-4983-a860-6f9bb6a27de9 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1a8355ac-ddbe-401c-acbd-f801bfb6c9bc phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:156a1c18-318e-4f3d-a48f-b4ca15dc57f9 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2d1447ff-0339-496d-ba2a-88f42632e468 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:651f0a12-e2d5-404c-ab44-9b622b1651e3 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:539d4ea0-7e85-4ad8-8675-8f5660f604ec phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ec7fc39e-1e1e-471d-96be-d12a33518203 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1a2a43e6-cd00-4b4b-85a9-fc57de1b56f2 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:444a94d2-15cf-455b-bc57-99e36e65a43e phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e47cf032-9e26-4f4d-8636-ac1fc7df9296 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fd6c4ae3-2248-4e73-997c-9b544e8a6bd4 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:af93b47c-96cc-4335-b9e9-42178d9f728e phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:877e7e39-861a-4645-93fd-ef4a539ae880 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:52a9b9e5-c7c0-4a92-ad7a-c30908a0448e phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2ae8e08a-3654-4578-b463-745cc8f4a20b phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ae5ea7ea-e2b5-43a4-85c4-a5818d93880c phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e710de0d-c1c4-410b-935c-6eb03830acf1 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b3ba7b18-c7db-4848-8e04-a93d4ba0f9b3 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2f99bbd6-1a73-4be0-ac79-747e0c1b9156 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:327d9dcf-f129-439d-866b-35eec38c67bd phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ed8f3a97-f4c8-47e8-8678-a4baa4220797 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:04ddb62e-c845-4fd8-91cc-c7b23a1eb286 phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:b0729093-3228-4305-b028-1fb46a0d250c phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:ecd9b43a-bd40-4e17-9506-6e9e3526fc7b phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:fffa135c-a675-4bdc-aeeb-31e58bdd0729 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:89be8100-87d6-4879-b5f0-b36d16c7682f phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:63a2c311-2449-4fba-b37e-95c392e646b5 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:91aea09d-db54-44a2-8270-922048a4cfa8 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:51287525-818a-4580-a226-17f505161114 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:6f2b02da-79a6-4fdf-86bd-dd46b6667aab phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:8beeb2f4-3cc6-484e-a47a-4a9173d7a23a phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:6d9b93de-6cbe-4ce8-bcf7-3c410393fea1 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:7e6640ef-bcc5-4fdd-b167-66f6ea48ba9a phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:8b769ab7-a743-471b-896b-6fdc2816ccdf phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:72a94626-b185-41c5-89de-45fed8d166cb phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:d8fbdfe4-387f-4784-9b6c-22a504dc9cd7 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:fd2129ba-5165-43ac-b982-9225cf3abbb6 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:312a47fe-6039-47bf-bb44-873734d7e530 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:33576469 uuid:5397497c-d82f-4805-8dff-cdd9704a319c phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:f1728cbe-8c45-4088-a4ae-d92e77760481 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3a8ad4ad-a985-44b9-a4cc-44986c993095 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5b68cbab-1c6c-427d-836f-b1bdcfde39b5 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4fcea3e2-b3bb-4f36-8f43-cd48646b47f6 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c8daeafc-050e-47a8-90da-20d2b634c1ce phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:899a316e-8f0b-403a-bd45-88bfd62377d3 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a2d348c4-d45b-4c9d-9c8f-c5bccd572155 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cef8cff4-2b97-498d-b6f0-08682f4ff6eb phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bbdf1de9-cbd9-4596-ba7f-bed7971a6a3f phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:68b94b9b-3bc2-455a-a3e7-bb887bcd0657 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2796e57b-7fff-4fc0-a97d-376407a99806 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4cf83d75-ab2e-4283-af7c-d7b6f511e5b0 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:593e734c-b78b-4b4e-94fc-7362a93989f0 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9ab1b504-f0fc-410e-aff1-415e323d2454 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0f7b976d-eedb-4637-be3b-e32d48641299 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:74ae5ef0-fb04-43ee-8521-f1249f5e7f5a phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:91846ae2-6631-4fe2-83f1-8130090a8ce8 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3d4485c5-40d6-4ffb-852a-7df112a97fa2 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6bc83acd-ec7f-4190-8ab5-547ec199b650 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:541e8a83-2911-4b9f-93ed-343fb939464c phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1666fcf7-7976-4a35-b075-01339185a619 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:d2c2156e-bdeb-479b-bb70-62ab442a2e85 phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:859e3718-c273-499c-a521-4b6e2400e279 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6bb77fa7-cbd0-4bf8-9ba0-919cfdb28425 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5bdba1f4-b11a-484e-8be5-cee9004e07f5 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f234ae51-1ce5-4481-aa5c-1986be56fd93 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1eca3757-ebdd-4595-9264-36bc640c964e phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0dd28347-c9a7-4b43-8275-8e4cc7337547 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:34092abb-4b0b-4433-ab04-0c439be47400 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b8107a78-ba57-4957-a666-abbfcca97157 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:519ef57f-878b-4a38-8f2f-b630c61e39fa phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:63ad2eb5-0f8e-4540-ba66-a416e371cd52 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ce56628c-332d-429f-9413-5b25cee39bbe phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:284fb062-10bc-4147-9bb8-c9673d412d84 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:96ab5416-7241-49f8-82ce-c7268f8ce9f0 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a887dc2b-749f-422b-8a6b-e134532c6091 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ff90a413-b9ef-445e-b308-d5984a4b3f01 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1b95b17b-34d2-4544-b8be-f526f59100a3 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:48abd958-7f57-43be-be2e-1d72318db5bd phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a6f4324e-f4fc-431d-9deb-79be5fb0d372 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a8d3173e-7487-43de-a8b5-6e070f5d716e phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c5383046-9527-4850-bd23-1179d4397f93 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9092f124-b247-4941-9fb6-2f96133574b5 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:35bf6e83-8ec6-411b-a09d-5dc3d717ea21 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9ccec392-b929-44cb-8190-bef1a1e97bcb phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:61cc79d2-1a89-46b5-8496-574ce252b551 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ba8dcd31-6764-4a9a-9612-9c54988f6b96 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2bea1eb8-1d37-4798-95e8-f49138783ddd phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8c48c9e0-1a5c-432f-b7f1-5ebfcb73899b phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:be60dee9-aa6d-4ac9-ad76-45e826588359 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:d1d1860a-99e2-433b-a9de-3e961dc44203 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:e875e102-19b2-4c67-a3e7-3f11ecbbaa05 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:e3230669-90ea-4856-9257-dda392d2d3a3 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:518dbe7b-e4bb-4715-b25d-37ffde590db5 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:9fb4ea31-c490-4e64-8bf7-cd2b60720598 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:6540a388-b990-42dd-9c8c-3ac3aff12c04 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f92ac3de-8b20-4285-88b8-5487875acd68 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:e9aeaa4b-86f7-4844-899f-d11699271654 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:875074f4-c7e9-40a3-933b-c56c4ea3e9ab phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f27dacb6-4d68-4af0-802e-f1f4590a6dbb phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:20d8fe7e-b9b6-4d01-ac26-d9960f1c8ad6 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:081bedf3-4ff0-4bcb-9aeb-9eeecdaa5fa3 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:1b13baf0-f255-425f-be8d-2cb202acc11a phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:ac5a8408-2a34-464f-8a16-f855c043cf57 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:99d47795-068b-440f-8d9c-26bb68a89abb phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:57de3f77-915e-4d14-8d80-381a3edea2ff phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:33576469 uuid:1795b5d3-f2d2-4dab-9810-0df6b2a1fc52 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:cd3a1fca-54c7-4582-87e8-119b0e7bb74d phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:888ae5f7-f3ed-44cf-8105-5f4178202273 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:8f71fde4-ec4e-4134-99ff-25a3c4073f73 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:ade789c4-e76c-4902-9082-c52d0e845cca phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:99ed46ba-152d-4365-a21f-6a5de8b2c209 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:b78edd6d-12e5-4073-bf08-d5650f8df3b0 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:be53ada5-b36d-418e-9b2f-1d04b86bf35f phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:6dc48259-c079-4097-af90-1fe9274b65f2 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:e0694847-4ec5-4476-bce7-e6c10339c147 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:045e251a-612b-41d0-ae01-e232836764ef phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:5709f3c2-d3ca-4cc2-9d27-98c80c8c516d phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:b377aadf-a5fa-4b5c-98b2-e80a3330c6ae phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:972fa2ab-569d-46cd-bcd6-d0d6c2e6bab9 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:fc745a9b-6c90-4e1b-97de-03cb2a8c8165 phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:433a8471-77ed-4234-b038-37aa488ec77f phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:ce3a24da-3182-4b29-83ed-7eb91865ab5f phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:589bbd43-50d3-44ea-bc89-bc75d0fec2ae phenopacket.store:FBN1.PMID_32404357_III_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:59ee5836-5804-4fcb-a0ed-e9583dcba2f0 phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:886cc2fb-628d-4807-90cf-35fa2832e0a7 phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:59e62e2d-edfd-4a4e-9f42-4155af99032b phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:e29a677c-2ebe-4d94-ae52-4c3f45dc99f3 phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:89262f9f-e9ef-450f-815c-f074779b896c phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:2284c1b5-9c8b-4de8-b1e6-9f36faafdbb0 phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:33d53c3e-a1e6-4589-aee0-546217f81cbb phenopacket.store:FBN1.PMID_31527767_III_10 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:9eafb2ff-ab3f-4660-b2b6-c5f91f46e60b phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:1decaee7-795d-4a5a-8490-6d3524841321 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:16bc3f0d-102f-4b2d-919c-ab6ebf7afcbc phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:7014cd22-4d25-4d0d-815d-292298e5d9bd phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:c6c7cd10-a1ee-4c20-872f-a508b63306b0 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:ce7b506f-ffbf-4203-b0ba-5761a2c47865 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:372ec360-e5ab-4dab-998a-d558185b88aa phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:abdb6e6d-dd24-4c4f-99bf-108b8eb8ce39 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:36018d8e-44cc-4046-9760-6de87918cec7 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:cd571d71-3cff-4a63-adcf-c1b70abab821 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:73e20244-3b9a-4160-9e14-aec0081e6098 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:0d321e8c-d5a2-4799-8822-d3c4719cf53d phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:eec35960-6143-484d-8729-ff852f12e772 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:8b09120a-5bb4-40d0-8f56-e15b227fd20e phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:ec49cb48-6dc6-4969-a200-28cdd067369a phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:0c726c04-c8bc-4f0e-8ec1-8d627da0f4cb phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:a3937ee8-d096-4a6f-ab1c-edfc9066c88f phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:ec423aab-58ab-4e02-8ad0-38a029c53ffe phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:7ecafef1-f137-4b92-8f93-4903372016bf phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e5e677b8-b421-4d1f-9ab6-e2284692b7d8 phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:2c773f14-a680-4ee4-bdad-2642e359579d phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:9cd61a6f-a306-452c-8f00-114ef923231e phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:086051f5-6789-4110-862b-d60528d65ab8 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8d209514-5400-4c03-8965-f446d1064246 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:7f6a409f-7b7d-4601-ae9e-1a9145a7d667 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1b1ee0f8-abbb-40c2-9d7d-77fc377d32f2 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4c90deef-914c-4507-b0b2-0b76fa2761c5 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d16ba52e-cf84-4bd2-898c-cec27129b9dd phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ed3cef38-d19d-4747-8202-7f1738755cac phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3677a94c-a328-44ee-8474-2cf67e39863d phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:967183a6-d99b-4401-bb20-08184a90986e phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:467fc3e8-513b-46e4-9a50-2d2f6f4d9295 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b33dec04-e2e6-4894-9321-583382f135f2 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fffa10b5-c19a-4b5e-a121-fa79fca9d13e phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c8fc39aa-87db-49ac-a3fc-1efd7f8da3b7 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:78093fba-7d43-436d-aff5-a2e32155508b phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:92b2d0b2-281e-40c2-a993-84f540fb26e3 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:06980f6a-3fa4-41d5-ab8c-e0a8c7caec9c phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:627555a4-90fd-4a3a-ae73-3ec16ae71cc9 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6a4cd594-f5fe-42fd-9267-d4f6d257a641 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f0b7f494-cf3d-4993-ba72-21e507ee2919 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fbfdd992-fa71-4927-acde-61b01fd98450 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8c1712d2-2758-40dc-8745-6bd52a5419a8 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:79cf998b-b425-4218-a7b0-111943013557 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c9901147-ecc8-4cd5-a772-3922d9b33b69 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:08b175a2-d3d5-44c8-88df-7d3cf5190786 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:87cf05db-b690-4576-a896-6917ba36a466 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:70b5b58b-a3ce-4716-b3ba-f89268da1817 phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:b8420e9d-68d1-41bf-a1d6-ec845ab053ca phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:91f31914-8434-4e32-855e-5ed677de7404 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a6993a6e-9769-4e74-b2d9-9a4df2bf35b1 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:7aa8c79b-1ce9-437a-bb46-49a58ee25b5a phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:c6f3d882-2e50-444e-bfcd-8dd8bbf70c9e phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:d350d2d8-275f-4b28-8e2c-6eab4d521254 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:7cdcfe61-1555-44e3-9ba6-94a76429eaff phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:2cb71d7d-0d24-42e0-a1e8-7ae30d38eaf6 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:96914c51-9be5-4b26-bfdc-24b82047dbb9 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:bbb3382e-f596-44f9-9f37-07b06460ce15 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:f29b8070-0f7d-4a86-97e2-bf77e366969b phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:3207a97b-9a5b-42b4-9d64-bb05711d5bb6 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:188790bb-67e2-4957-8d59-89331ada36d9 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e9de625b-76c7-4ca3-9a6c-d4cae16f9926 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:dbd8bf6a-7c0d-45ab-a38e-10362c70a8b5 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:f56b0bcd-b4ae-46d5-b54f-85d8d1ecbdb2 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e215c1ad-ed98-452a-9d19-6e409bf07c56 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:6f0e43b3-dced-493c-a6d0-0d7f4459112e phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:1bfc9c89-ac58-4277-98ad-d48e1329e7b8 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:63926374-7dbd-4d8e-9fb2-b7deb032a8a3 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:4feac90b-c0a2-4c65-ac58-c0f91d94b79d phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:2271957f-cae8-40f2-93fc-2c7c24bd29e7 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:5cb87fd9-b544-4d4b-bbf9-cad71bcde71b phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:ce335216-55cc-4d89-acd7-815c15864372 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:a975e357-cb92-4f0a-b214-3a8439f1acee phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:0bd31fa9-7402-4561-834c-d592b735f877 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:4978d685-1429-484a-9607-5f91a405c6e9 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:ecc99aa5-306a-4bf4-9385-cd6d86b37c27 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:6e12bc21-dca7-4e78-a8ee-cbb0eeda8d0a phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:ad246938-ac8d-4cbc-b8ee-7100017d4a8d phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:932c267c-6c56-4b44-b3d6-6d10b42151c4 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:9b5d278c-c6cc-4693-987a-1b6b4c17ce24 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:25ed5fd4-9d87-4cda-b1a2-2d97d9bffbec phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:f9d8989f-5535-4bb1-a983-b34eb6326130 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:be1535c2-e825-414b-a3e4-e0a8b05598a4 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:de5a5581-b8ca-4b2f-a285-820356110559 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:e4fcfd98-ca2d-4840-9beb-f0c2b9fc2ebc phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:6ff4c02a-422e-4c84-b68d-1348a7bc9837 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:953f50d4-bd80-4695-86a0-08955b738643 phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:906dd338-67fe-4fe7-8e63-2e64dc22ec21 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4714e6dd-e9eb-4389-8dbe-48842cd6dc20 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1fcd0161-ab83-4348-a6de-5f8ecd82fd44 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:01fd8467-46d6-4d98-b554-09a6f987e7b3 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:635a866d-ca64-4740-9207-1a634dbcfd8e phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1385fa98-2693-4e60-ab8c-f526b8027246 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7fcaf0cf-be06-498c-beb0-69103f55d500 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d5267323-5339-4598-9416-678dd5a55001 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0714c3c7-1565-48a9-a9e0-2cad922bcdd1 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ee0b92a4-98dd-47a8-b23a-f2a24173a2f5 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0605ae1e-2cb9-4302-bea5-4875d89aca3e phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:59b21f34-721e-4278-affd-bd6424ddb0bf phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6c3d6c11-61c7-4e3d-8398-fdd70d4cdfdf phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f8621a51-1dea-4d1c-a766-812ffdd0e8b2 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c9c83fc3-0f1f-4768-9bde-7c564a17aa59 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:19e9f4da-0484-423d-867e-e12e5cd50b0c phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:80a050ea-ccba-4dcf-b4c3-28b52d57251d phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ab2ef163-a56c-42c7-888f-0c04b5c50e8f phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:2b47e6af-0731-41d2-a3dd-079f6b93ce51 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:519fd72d-db12-4e55-8c44-9f4f575fc1c1 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c0a81a45-4401-42fd-9620-fac13bcfb28f phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:86642f16-1b80-42e8-8620-dd657ec91046 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b9bbc3e6-4250-4b6a-a196-7641f4f42952 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:254e9c57-69c3-41e3-88e3-801c74d34abc phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f6d46dfe-affa-4120-bd5b-3aaf2591f101 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cd26c613-653b-44d2-bcbf-a7bc39591e5b phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:1ec64fd2-7105-44b0-8eb7-bd6c5eb08741 phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:a260674f-519e-4e2c-8d45-3239530faca0 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:f67fdbd1-402c-45a6-931f-44efe785b5f9 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:03386dc9-712d-456e-b796-1a564e1fee42 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:bfdf6543-d0de-4730-9889-c5b568e86300 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:8544c5b3-9c1d-4b8f-8f51-73bad511cc91 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:166a4643-f2bc-4b35-aa57-3b43f5eb3dc0 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:ae7a51db-8e22-42e3-b5f4-48c599f60ce0 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:52ecf6c0-1537-4b1d-afe3-0b55eca8cb04 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:4f3eaf76-73a8-491b-89f3-0a391364c212 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:2570349a-df1c-45b3-8cc1-06be995c1c60 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:a4abca41-0b12-46e8-a02b-80478db616ec phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:66aa31fd-71be-44b4-b16b-d8878ca135fe phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:78b319c1-7908-4e0f-9dce-56d42a9581ea phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:4199a9eb-0eb9-4e03-bc71-56fca9a96040 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:ffe6eb38-2aa4-4fa9-85a2-c8d3cb5c6ba5 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:964d8ba6-39ba-4001-a1a5-ce8483bccd12 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:c1732aba-b13b-4faa-b1bd-918907ad4b5c phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:03b4542f-2034-44e9-875e-fd367bbaba00 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:f9533c80-ce9a-496d-9a0f-9ea63d3688c9 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10756346 uuid:53114d3f-ecce-4c98-88ba-725eb9d49918 phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:3a5bc0ad-bbc2-4194-8e54-3b4aeba8f1ef phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:7b837c39-c217-425b-a9a2-c3afb461dedd phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:71f6e198-e96f-43c5-b978-661bab978904 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:6c056a8b-996b-4f66-b384-49a8e10f2566 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:0df9fa70-9a34-455b-b96e-9565720fbb3d phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:30d1fb69-2a2b-472d-828d-cc2f05eefece phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:e3de85d5-7b8f-4c30-bec0-a4b8a3bed99e phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:ce79b68a-25f9-413f-bb04-fc4f66662120 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:7bc01cbe-68eb-4fa8-a358-6c13719c1126 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:1520d662-97b1-4f06-a9f1-0fc6941ded63 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:724ebb31-a82e-46b6-81a8-463838f1359c phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:8641456a-f273-4ab2-b476-4cd654c02f51 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:74b3de59-0d60-4e86-831f-95aa94d1261c phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:50a9d78c-de3f-4092-8aec-62577736346c phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:b07486ae-c5e1-4e95-95e8-38c7c3beeb45 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f74308d4-351f-4ccf-89f6-4065da9a34b0 phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:33576469 uuid:8f42cdf7-2f92-4efb-9e47-7e667f4f6e9a phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:3a04b210-b911-4975-b2ec-20774ec30c41 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:8220bbee-2128-49ec-a94e-c3e6ee619e58 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:3a42cb8b-3347-47aa-9128-a92721625a52 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:16b03e36-608a-4fb4-b8cc-4c83502c2f5d phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:cbbae3b8-07dc-411a-a95d-a8c6792c1a65 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:559eed5c-3fb2-4953-8172-e66cf31dc371 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:69fd97e5-f2bc-4991-b8d0-f249cacb4eab phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:711dddeb-f30b-4883-8e77-7316520ab201 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:821ddfe2-636e-449f-b49b-d0822a815a01 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:a8dc0725-875f-40f4-83ac-273c1afc0f12 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4a17387a-0a84-4451-86dd-2a508d76987e phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:10c9692d-35ec-4b62-9be5-b461b968a1fb phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:522b3c60-111b-4567-aa5f-319c210bea6b phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:bf447baf-7c74-41a9-affe-939ce28448c2 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:134e48ad-2234-41a8-8311-85bef19f0163 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:100f22f1-e73a-40fd-aab6-c696b7588922 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d251548f-397b-4663-84dc-e6fb39259bb8 phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:29c2e438-4283-4bf7-becb-130fce8a9d8c phenopacket.store:FBN1.PMID_22219643_II_5 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:18b1a360-d2ca-4ce0-a142-923db87aba99 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:acc59de5-ecca-4c7d-b3e8-e872a4af105a phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:23800cf3-7c58-4f63-b565-d4ac40f25418 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4be16b61-e89b-4a98-9c07-9cb71fc76522 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9f284e1e-95e4-4044-ba98-86f9f87d66d2 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0337789d-4a15-40c9-8614-e759a1386334 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ae22576a-e772-4dcc-be3a-cbb41213c706 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:efd7e095-aa85-4cfa-8e24-9d9fbe677d2b phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c4190643-dabe-4889-9b1f-b24f5ed5477c phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:39fd94de-450b-4210-aba9-4a4007481403 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ac113863-747d-4c3a-be6d-489483b4fdc1 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8c44c4f9-c5ad-448f-a812-46c0dd1da0de phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:7dc1b7c8-3929-420d-a10e-17812fdfc9f5 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:554e230e-8c0f-4a98-9229-1b5fa11b215c phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:15eeba9e-dbb0-471d-9822-412590d5e582 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:cbf2b2a1-01fd-44e3-8aaa-b996ffcef686 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1df5922f-d11b-4791-8bda-1934d40a1719 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1b4699a9-2747-414a-8dc0-6178f167f63d phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a35b0842-ec73-412e-ad34-3e01ef4130bb phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b3932438-ae0f-4506-880c-89e47da6aabe phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ab4aaf7d-19db-4a54-ba8e-4aa58e5a9fb4 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ba384fb7-9e3f-446d-a45b-97e55a472c86 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:395ac08e-1dc9-4739-93a0-26ba652b205b phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7de4cc12-bb88-4ec8-91fe-66d618f70fda phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:818caf8b-0828-4518-b3c9-fd0337906311 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b8b76f34-6068-4609-85fe-4601a20597d1 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f8bf4bc4-3440-4558-bac1-8acf205b2644 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:018c3e61-f33f-40ea-b501-677cb3dd4063 phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:f375ebc1-9850-4aaf-96ee-468f07967baa phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b4317204-ddf7-4e77-a56f-2dd26c335e4b phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:da20c856-f1a4-45c3-9140-205237fd3d4d phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:69fd3e35-dae7-4b99-86b2-993f21036937 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1d0f3052-c03a-4c91-b1f5-f14f99fa7214 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:63fd5771-5a2f-4670-9fd4-faab1129895c phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0ee4757b-c19f-40be-9bbe-1059f79b712c phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ede64f76-a148-40a7-8528-a9aee3e5e8f3 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1f71af6f-4898-4ffa-80c4-4e9cf85ddd83 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:22b6666b-2f8e-403a-aa17-e325e2be3c5a phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:627a9097-b57b-4d5a-aeb1-a3ea02195833 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:92028eb1-b5f1-4fcb-b063-773619000429 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:242408d4-e301-4c4b-a48c-fb613c15de3f phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:29210e70-36b1-44c2-8b6b-c9fd70db8f52 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8b0b0375-4148-49b0-82bb-f0701da15403 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ea632741-70f2-45a6-80ae-c44bbd27f73d phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fc7d802f-91b2-4564-ae73-0293b18717fc phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:80f2f614-1799-4dfe-a48a-4b2c7ce9f298 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fc02a9ee-9a33-4469-b2ba-6aafeee48d44 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7692511c-c815-42f5-ad99-ab5ce6b09122 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9c0b8ba7-1577-4320-aebf-69ed740e3428 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a37e669e-e626-43ec-b037-4f1ed852fabf phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1f3b5dd0-be09-45db-aa98-a92ca5211c82 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e2eed1ee-c063-4fcc-ae2a-940819eb9dd7 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:03eb800b-1c1b-4a9c-bfb0-d3d87a51a873 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:f828142b-0fa5-41a2-822c-80e4a8c01a8c phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:0e555e1e-cb86-4c80-94d7-5ab5c6e5b025 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:d461afcb-7cbe-4f9b-a83e-932abe8951d0 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:f2e768f8-f70d-45fd-9c89-976749efa3d1 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:0cc34259-e3c7-4eb5-9381-57a100a8019b phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:d2700fb2-39f3-49d6-b484-addf41cfbcb4 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:d6739544-036d-40ef-92b8-6f130c8b16fd phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:01a7ce45-516d-4ce7-80a2-9d65d6328e3c phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:35a83a38-ac84-4de0-928f-a7ed57a64d58 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:07e684a9-86c0-4da5-a775-09b94aaa88f3 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:96bbe4db-3948-4a86-bb21-d854ba5d36d2 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:73fa8275-a483-457a-8516-78fc23c94706 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:364960a3-68b6-478c-9ab4-30e718afc2c3 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:ee35c96b-e4e4-43bf-aad2-dc85506dd81d phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:85b6a309-2d61-4aef-9c32-e7bed8f2994a phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:9f8bb8bc-d4ef-4277-8ebb-45b6e9dcef0d phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37845262 uuid:18a7900f-3e10-4e9f-ae40-9054446edf3a phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:925815bc-615d-420f-ab7d-a1f4b819baec phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:d3c29053-a68f-41d2-878e-251caf0836c1 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:92c422c3-6055-45e4-8534-205173600259 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:3821a977-75a8-40a7-8b74-a0883d43d40f phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:c0477ed2-adff-4dae-8f18-bc011b2a226f phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:bb47a3fd-3576-43b1-9f48-aa2d96c2c80f phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:0da8611f-4991-49a5-8b62-cd6db0e0781d phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:59dc8fde-e7fc-4942-91ab-436a94da2a99 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:88e719e9-d6f5-4600-b31c-d3377d1bb2c8 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:503dc24a-219c-4dd4-a0c2-86930af759ca phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:5fe3e3c2-ee60-4489-bbb7-d4de58f566f6 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37845262 uuid:132b7859-c070-44cc-9e08-41658bcdfdfc phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37845262 uuid:0f9532d9-dc61-4933-b3bb-f0c0ed955629 phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37845262 uuid:7acef3fa-7127-47a6-9976-07df75dcabdc phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:03f16c4c-33ce-4bb9-96ff-e00696618b81 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8506c880-f917-45a8-975b-c15871d143ac phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:157a67f7-a8e0-4bf8-9560-1173df134485 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:09a7fe06-d4a5-4b96-aea9-f7d116c81cae phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9f3230a8-ae0d-4bf8-91b4-b80acc800b9a phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:31166b5f-c459-4451-8c3a-096eb91477e9 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c690f302-c542-4a31-b3b7-ddad40ba0af8 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a3666b6c-e12f-4bdb-bf9b-1d0b9181ac99 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f94c567e-a9d3-4d46-baf0-b1b3ef9ee05b phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:90112345-35c4-4d7d-a33c-72d2b9ca07d8 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5fc69d79-e693-4130-8810-e698d2e04790 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:790cf646-9fd8-41d5-ada6-032e2b744935 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:cae3aabc-c2f3-4b7c-be98-3c1e70c103db phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:86773349-dd08-4409-aa0e-d4ffe80fe6dd phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c1b27f94-a4d0-4ac3-9c28-63e968b9f89e phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0b9a6da1-3222-40c9-ae32-2e31619b403e phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b9b18c5c-29a8-4b94-966a-b45fa00df43f phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5257466f-cac0-4203-b22a-a469a6f68127 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:62e1a992-ea11-4b1b-a1b5-567406206a20 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:865a1ef1-0225-48d6-8d52-a96bd8f817b4 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5bd1643b-5e0c-4f8e-a144-ec08d7a0c7dd phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:90307f12-78f1-47eb-8af2-d43b57408306 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8d0428d7-03d6-46fa-810f-7960f9c8359c phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5a6a3765-cda0-4a76-a29d-c8c476c97547 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:18ee7e22-6a93-4f9c-8958-255dd30120b6 phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:9cdd1adf-6530-4b71-bf0a-425e0c64f838 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:2ed6d074-c747-4ea3-8bb2-bfc7b9150dd5 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:6be8e29d-a11c-46a7-8139-8bc253f8c271 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:ba1f36f2-82fa-4055-85c6-7c227f7bd47b phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:2fbdff5b-a457-4884-a72a-f5a2f40e3e9b phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:777db9fa-4c88-4442-af36-80dc9c3f7838 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:4221e295-ebc2-41f9-ba0c-001c05fcd475 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:35c0cdce-7e8e-4133-8138-ccf99a05da81 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:81d43a99-0770-4b27-8606-6ff31bdc63c4 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:d0745eb6-6bb8-470b-9be1-6de67af0be35 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:c4c04772-5b41-475f-8e3c-8bffa5ef68ce phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:4db5b55a-0043-4092-a98f-2ebd03f375ab phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24613577 uuid:544d382e-d26c-4735-8b4b-9edf6b07d574 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24613577 uuid:c1ff7d4b-e8f9-4d5c-b5d1-548e69cd3ff6 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24613577 uuid:4331452b-cefe-42f9-a63b-755665c1d317 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24613577 uuid:032fde3e-ad71-4287-942d-06f28e16a7f1 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24613577 uuid:bdf667b4-663d-4ae9-a7aa-9fce8f947bd8 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24613577 uuid:748f5e45-3a00-4c4b-8e70-cf90b3fa7b03 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24613577 uuid:f54d7895-e345-46a6-87f0-4bbd39731d38 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24613577 uuid:04d60e87-1abd-4b7e-bbfb-ff72b72407e9 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1f120775-2b80-4b21-a7d3-9e644befd231 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d2043027-ffe3-4cda-af9d-a2dc1d399ac0 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c5aa329c-cc1b-4eef-82d8-e196df4cc793 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:169dc0cb-3860-4ff5-abc3-5174ee57077e phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:708807b7-3308-49a8-813a-fe2bb83fcdb4 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ea43c4ba-b00a-4916-ab41-9c22f7043e26 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b7a77f8f-3007-47a5-abcd-0708c5d383f4 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6d7b752d-3d54-4267-bc5f-1c1f860a8b9a phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:27501e55-73d9-403d-9aca-679a7356411e phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:43b94336-efc0-4cac-bb78-418208c30a7f phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ae1d9ca4-9938-4c3b-9bb5-68d9d833654e phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:015fb5da-0b10-4454-8ecc-990c29f338da phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dacc42e5-85b0-4f63-befa-399c6b988cd2 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:91f41113-9715-4959-ba09-41531d419eea phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:09a17d32-75d8-4cf9-a4f0-9e97ee4167d9 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f6c0aafc-8f91-4c0f-a526-598871aef181 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:63efcd30-cfae-4c30-ad4a-c3f33032f298 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:45d21aec-e803-490b-a27c-f8e4e616bbeb phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d198e031-a5ad-423c-9ab6-ca7773d183f1 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9b4b3366-b585-4316-b872-532b2db4259d phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:55f495f1-d45a-4ea3-98be-41ead3d390de phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3e9af66c-9c99-45e5-bd29-02d10eabcaa1 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f65d6ab1-99a0-4f6e-b08d-140ede44f9a6 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:37e44a99-1b6a-4dab-9c98-a51c5334dc7d phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3d227a9b-00d5-4a44-b050-20e7eca269f8 phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:fb328e92-6a23-475d-9792-7ac73247622e phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:9c6bad4c-8f4f-4711-909e-0a14584e2b9a phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:8bc3e165-fa3f-4ba4-ac18-d82eff5597b3 phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:b1b7dc17-ce7c-4b2d-a9bd-c058a24e2a0b phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:42a632a8-2cdd-42ee-bb8f-a2690d807adf phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:087403cf-5a8b-457d-9674-de2bdf618cf9 phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:7be44e96-b1c4-4819-aa6a-62de5c4f3ecb phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:59b82273-7e2a-49b8-bd81-1e3a37e5d5bd phenopacket.store:FBN1.PMID_31527767_II_6 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:43c468f4-355d-4ffa-9b30-e6db865d51b1 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:d6ed10f8-2ce6-4bd8-951c-60d9c476e74d phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:0d7e6456-5808-4149-8403-bd59eec97ef7 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:8b8a3632-4df1-4da0-832e-646a37ccc545 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:50011b86-edc8-4774-8e8f-49a2a9c6a392 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d39a484b-0081-4ec8-bd1f-e0d2a901dbaa phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:c70901a3-8d3b-4b50-af7c-eda8ca628f73 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4d08d594-5b20-4c3e-9602-f071e1897139 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d08044d0-5f21-44ee-91dd-690543a25dfc phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:739829cf-df67-4828-bf67-ab35e693014e phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:0c9d1be4-607c-427f-8f86-e3fcaa805c6f phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:5b7cb0cf-a154-4580-a667-8facbd02ae18 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:67a3a9e0-2522-444e-8dd2-0d26d87cae34 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:96a263ac-5a7f-4478-a40c-2cd91d89e8f3 phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:c50b88d5-83b9-4396-b63d-51a3470eecea phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:6848731e-9a36-413c-8476-e25d48301faa phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:1e57bbd0-df0c-48bf-bd48-88d0855077ea phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:e890fe24-d00e-4bdd-ae74-8b0cc19b809c phenopacket.store:FBN1.PMID_22219643_III_9 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:244ec23a-735b-443c-abab-e8f3dc899f76 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2a9337b8-6a89-4d1e-a10c-1fc0b7599960 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c05e537f-2191-4c7e-bf02-b80f8daa95b2 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:343a9bf5-d5c2-4bc7-93f5-cab067e2dc3f phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:00c3a883-ffa4-484f-bf73-497bf5d07aa5 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c8ea935c-5b93-46fd-8ce4-c1f789a22bd8 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fd00f82e-ee5c-41ac-b198-6690bf6b1333 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ee0cb228-4d3b-4917-a898-f3d175ed08ac phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e45d790e-6f69-4d46-a134-873b591d3850 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0293cdf7-d6d2-4e6e-aa2a-1c4e88854942 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f52af525-d783-416e-a30a-f5f46815a459 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:733fd42b-44b1-4356-bb8d-aecbcea2bb65 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:19a982d2-03d4-4a8e-b1e1-6865df0e7fe2 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7992c91f-c19d-4e87-95ad-57526437194b phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5ba290fc-96f1-430f-8765-14f728f15812 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:54c767b6-ffe5-4dfb-bc9a-159946129cdd phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b44bc8d9-e7a6-4909-b62e-a2b9002d8847 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:767d86a2-1804-48af-a54e-98abfe87e85d phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f361746c-dfaf-4384-88c3-4f8af366ffb7 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3ca5d594-a762-4dd9-8c95-e38d546b2337 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cec52be0-2ffb-445b-bb9b-1718925aff77 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f3c6d02c-ee2b-439f-aab2-df287ae01e79 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e948742a-ef9c-4f1c-991f-69eedcb25355 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:20f98942-782e-4d1d-9b09-04c0d19108f3 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:333434b0-bc25-4647-9c0d-41c0dc521e5b phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:33bed000-d6ae-4ba4-92ee-6072ec478523 phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:16be4f66-3386-45aa-9fa2-72fe1ba5663d phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:6a415f7b-cbfe-4581-b0a8-a5e2d0cb81c4 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b58abb90-1762-481b-9ff5-4ca931b5287f phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b5c5e930-07a1-498f-bc1a-4f30e5acc65e phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:06793274-dfeb-4944-a764-3f9aa2bed768 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9a3cbb65-1ead-4890-a558-c15737bc1dcf phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3f189918-7947-4bd6-b77e-ab103d96fb05 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:fc14c212-4c39-422f-9b78-5416989681f3 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:80e28788-812d-4a94-bbf3-027e5e838133 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6da2ada9-350d-4b43-aac6-aaca183f4bb2 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a4de6230-b9bb-4717-9e4d-1ee704059e7d phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:33f03feb-1771-461f-a655-c0325940be47 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:31a26a90-ce6e-41a1-b3bc-6bde0ac89d7b phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:778b8ece-76a7-4a8f-9f72-85f8a3c961e1 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:cc9d20eb-bd95-4ae7-8775-bc1e5a5d29c8 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:05c423df-4124-4358-a98e-7c301b097cd5 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:60592fed-2e94-4b12-8676-fbbc333c9b10 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d89d3071-2f42-41ca-8f12-aac18ee5bd2e phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d7e1ea34-d28b-4df1-b9a8-720ff349cafe phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f20465b1-bdf2-4878-b00f-0b2c3e8da82f phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3caa4a92-df8c-4195-b098-689ae4183353 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d8b0d4dc-9577-4489-ab1d-e25e7fece2bd phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:ba3e89bc-e223-401e-ad78-bf73b722b301 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:f7c29ef7-efcc-4510-b74a-737d45f58800 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:41dc5ebf-b643-4131-b4c1-a1ddd94d8d3f phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e1c6f9c5-a2b7-4163-97bd-36c434696827 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:59a927df-5b41-4656-b13a-ae0a1361a9f7 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7ec28d2f-5d9e-40ab-857d-4a23b577d8a4 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:980dc9c1-948d-4a99-82b7-0ee71936b494 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8992cb05-2bd7-44b3-b8e5-58cbcb7c2d69 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:860a3ec5-2264-48a2-b14c-0e632ec5f6ce phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ac50392e-81fd-487c-be82-14c309c55408 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ef74abca-90e4-4820-8aa9-953b86284096 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ba008c90-20d4-47a6-8063-ceb20909849c phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c8fc0f90-200d-447d-9576-59623c35215f phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:79f34201-5dfc-412c-b646-36e522abf97f phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:acaaff61-d31f-4ca7-af32-02e60d2b6276 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a56e2c93-bf08-49f4-a37f-a25beae897e8 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a34590ab-6c07-4121-b6d1-bccf3e770877 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:24ee45dd-8105-4a07-9346-6d4a306bf99d phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5bd214df-bc72-46d6-83d0-414ffeb18518 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5183b87d-508c-4cdb-8d82-9678cd6c8f29 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c7c613b9-e623-4f49-97fb-ecfa0b8eb971 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6b8748a5-9703-4275-8fe6-53c196d39133 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8f032963-4ed6-40a0-9ddf-daf8329ab4a9 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1f37a68a-5394-490e-84ff-1e4c28e1bb41 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5825559e-a28f-4cfa-97c8-afe18eb0a21b phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ff3f9575-f8fe-48e1-b9e1-78755f557712 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5ec17a2e-e9b4-472a-b661-9096f801b99e phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b2577bb4-7d03-4e52-b454-165f84f4cea8 phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:fd504a02-0dec-4792-89c0-1ca7872a30bd phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:67e6d7e0-177d-4eb4-b119-999cf840ed23 phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:861a9f74-1575-4f56-bbd6-1daf3de546d8 phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:387aa012-3c5e-48ae-9605-3c73965b8b9b phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:112d237b-7ded-4060-863a-139c2cdf4d79 phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:87580307-a9d3-4b4a-b835-ac5fdde08245 phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:8adf8b72-3233-4895-926f-6e975bc184ba phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:6e0be241-580b-4c9a-98c6-14a384b8be1e phenopacket.store:FBN1.PMID_31527767_III_11 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:086b8a1e-0d2a-45de-89c0-1647163aa5e8 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1c6de236-6ff0-42eb-8d6a-2d58097a6a2e phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a625f247-660a-4c40-ab5d-b99efa5d0d8f phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e4d4ebc5-bb2c-4ac4-9c18-77c9bfb1b314 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:31244da1-04f3-488b-a00a-5b03145f9e3c phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:635991f5-cfe6-49ec-bb40-a306361b0a7b phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:70d9c96c-d13a-4452-8f9f-a7e0b74a7060 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:63b2e88c-b266-4a00-9d2d-e45c46670d25 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:db763d7b-4912-4771-a6dd-98e14a875a89 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:306e2f2d-7b46-4c63-9fc7-7479771fa9c2 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:af629027-f30f-4fb3-90f6-88d0b5d26d3b phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:307d4ee3-6fe5-4dde-abd7-dbceb6a6f5d1 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:241d99f2-504f-4525-b1ba-752e2a8bcd9e phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:04c3d21f-7f79-4f9c-bf7e-a848dae71f1a phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b3bee3d9-5c8c-4b06-a02d-400426809565 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e61b8b85-f6f2-4bcc-9325-a297540a7c80 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e5e64727-2227-43b5-8a55-084af5b7a644 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4698b6da-de16-4042-bb4b-effbd691af05 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:13899c8e-553c-48b3-a624-7d10fe80e348 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fbd85941-edcd-48c6-bde6-078a2d76f59a phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c7fff0d2-5feb-47ef-8e87-fc34eef96c82 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8b614d77-3a4b-4aeb-a767-1e2beda7f8c8 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:514a53e6-cdb4-4475-a5be-74955fc26674 phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:a4c9a3fb-b8f4-4b16-bab9-8b59e07d9a57 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f5a578b1-0b37-4628-9416-6fb57d23a44d phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:59eef5bf-4102-420c-8651-29531f52932c phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8a5bfb46-3607-4273-bec5-4851b4da6bd8 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:38a5fb97-ed73-4baa-a798-b1bf66099da9 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:72dfe41b-f76f-4e92-8900-abdea47f0a21 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:01b7de83-199f-40f0-981c-8a5f0c951774 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ef1ec076-ddfa-46cc-9a60-56239f25f21c phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9cf5878f-5647-4d4e-93ff-5cee0a60d79f phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:13d398b5-93e7-44f9-8946-b020926d75f0 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:742fe1c8-19a6-417c-abbf-60d7fa1b767d phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:09573b5b-d413-48de-bac8-f633505b309a phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c67d895c-67b2-485a-9e40-466513eb7455 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:919e24a0-9424-46f6-b6d5-711e4cda54a1 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0e927ea3-48a2-418e-9656-f96a15098c02 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:58723ca5-983d-496e-a39b-5cc49216d990 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e4cb1cbf-6bc2-442c-b58a-f6aafc65c97c phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:55866f9f-932d-4077-bb33-e6ab93e5096d phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b63713be-6b81-4e6b-948d-0a4c4e68bb29 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f8ae2c7f-1e0c-465c-a6d3-e289f07fb35c phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a70e44e6-b617-47c5-b69d-5e09e193a6c1 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7a63c6a7-25d4-4a23-9647-0ce62d96f88e phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8671a569-32f2-45f6-9631-7dc1a2a69d96 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:50c80c3b-73e2-499c-b32f-025f3a93a6af phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a23ea40e-7c09-4db3-9d53-8238947e0041 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:b952d1ab-6c29-4877-8cde-dc5a36bbac95 phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:3ecc147e-ff7f-4328-baea-df050438d06a phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:fec95c78-39b4-4ff4-964f-51b5ef54addd phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:86bfeb07-fe7a-4b10-8694-dd054ecc9847 phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:1a23f107-939f-4fb8-a1dd-c2c774a4d242 phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:a3a1e376-d984-4733-a41a-e9f41d2da2c0 phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:e06762b9-3c6a-4e21-8323-2da58335abae phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:dca6fa75-df2c-43b4-9cec-f7c9383245a0 phenopacket.store:FBN1.PMID_31527767_III_7 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:48678e4c-37da-41a6-a5d6-39066ed7af8d phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:bdaee4d3-b897-4120-b2b8-2193a932dac4 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:6b1910fe-ed46-4467-8d69-e4af8016d841 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:6d50f2dc-23ba-47df-9793-4be03d84eb6b phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:3bf32f48-ab3f-4ae9-af45-ff82fc333793 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:fc3f7e71-3984-4cc2-ada5-3efb3584e865 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:4f82fe5d-3f44-4888-bade-7ad6dbd28a7a phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:6779a61d-a89f-42f6-9e32-2dab40dac96b phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:a91ec775-954d-4695-a625-f9130694e321 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:930185fc-f158-499e-a583-7d48ebc2cf7a phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:4f46371d-6abf-4061-9878-0d0de120e33f phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:39124289-06ee-450b-856c-7a6666cd1d1e phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:2fea7b96-90fa-4d59-854c-215f7a34fd8b phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:5fd0d3d3-8292-464b-a467-c7f5eaaf86e5 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:6efffa2d-7593-41b6-8a28-e0dcb0b021f0 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:b5d1c215-c010-40c9-af1c-effadf18e9d5 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:88348deb-ed1f-4370-b5ea-a4a86707a146 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:d21fb0e6-2f77-4ff9-bcda-ed10a5cb9315 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:23d52dff-7ae6-4338-8661-4530e87ad10f phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:df0985e8-8b79-4644-91d9-cd6cf68cf307 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:5892e75f-cdf2-4044-a2aa-da082361a213 phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24665001 uuid:fcfd0568-5ee9-4a2e-9a76-4e3937e45f4e phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24665001 uuid:534d8bcb-9212-41db-9149-42c30ceaaeb6 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:ed9f13c4-2d6d-46da-b0db-4c94522238ed phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:5428f7bc-8dc1-4701-b7d4-cb702394e11e phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:e222895b-44d7-4f78-9925-e8020f183b14 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:99a441f5-0b12-4c64-b5bd-c3d4dc5d23d1 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:f123c6d0-b693-4261-8a55-a071aecd0d2f phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:06b6850d-3c43-4e83-b64b-cd926f5143de phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:234d3baa-faa3-4fab-b7d0-c56f6b9c791e phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:0b844354-7626-4ef5-96f2-6d750b984f29 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:58ebbb17-4049-42a5-bf39-7d9ab66d4358 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:56bb4762-ee10-4520-a37a-74eed1af8a74 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:36a69d53-fc8e-4042-ac76-03dd51ac9624 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:83aa9e6b-ff9b-4ef5-8501-bf033150e8ab phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:15638949-dc55-42ea-98b5-10884fe75d44 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:3a5c28f6-0a7d-411d-97f5-ed2a4fe208f6 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:26e3689f-0426-4cc9-a3c8-c1e8c243167b phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:3bbdcd6f-0e5f-4468-ba57-d97bcef099e2 phenopacket.store:FBN1.PMID_32404357_I_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:a7ed0ff4-8f57-4fc3-9fc9-08bcf880ad5f phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:62225300-341c-4440-af74-b30eccd02580 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7efba4d0-fd2f-4350-9a5c-bcbb5894699f phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f8082f33-e82c-4980-bd8c-7b1b8b9346a4 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:593e6e08-fccb-497f-8dab-5bc49b9fe066 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e38abfed-e12f-4089-add8-1b35e0446131 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d0bda13c-a4fc-47a9-9911-c79ae638f7e4 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d10f8bf4-b4cc-4373-b7f4-5a633282bcf8 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c15a9952-0b5e-42d1-9867-f062cec4428e phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0475f1ef-804d-4a59-a1ae-ac92b40c03b2 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:808dffe6-1c41-40f0-a25f-58911a55fe54 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:848d8e22-b3c2-40e9-bff2-b5a14843b3f9 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7b0ef4a2-997e-42b6-8563-4520c09b798a phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:eda67dd6-47f9-440d-97a1-547c314478cb phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6248d0a0-e5d3-4ae7-b3be-6fdf010bfb8a phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:57b9b156-cde2-4103-bef6-10d362f985ca phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bcfa3768-6ada-4a0a-aa7f-554615444ddf phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b7865a67-ec5c-47b8-b94d-e4eca6c51c5f phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:2e16c282-4370-4e82-ace4-b331433eae24 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7e992353-a926-479b-b741-7a73e6702cb2 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3d353107-4ec2-4eaf-8197-7703192a782d phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b71b548b-cdeb-40d7-bc00-f561c920ce8f phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c0b0a431-9355-4ff3-bd1c-89868c2e208a phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7d5ca0c4-f1d6-4b74-a2cd-c29e4834a70f phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:34090dc2-67e3-469b-8a6a-29a47535a0ab phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d0b3f308-78db-4eac-bca7-6616064bdf91 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:6924a8ee-7a79-4451-88ff-9c592f10b167 phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:8960e2ad-dd1e-472a-a051-5b03018cfe98 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:6000264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:3dcfa741-75d3-47fa-b077-fd6ac495d9e0 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:7d8328be-5a2f-40e4-b0e6-c735d2f33bf2 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:9dae3e02-9171-4e4c-b452-e46c262d7f26 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:b420eb4f-738d-49c9-b76f-049570cbfff1 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:c3fc18a7-db76-43e9-adc4-536c59884787 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:a6f00f54-5108-4f4d-8acb-6de6428dad31 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:6b54e271-e59a-49e0-a85b-3fe15298c4ca phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:9e7aef3d-4321-4479-a54a-e79d04bd39cf phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:550b4d4f-1a1e-453c-91fe-6fd99002834f phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:49fe7639-ed2d-4afa-9568-44baa184e4f4 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:c25ad96e-a32a-4236-9780-fea3aa464156 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:29a1e3e1-869c-4b3f-9ebc-2206d50baa18 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:e6d4d031-bf29-4ef5-b6f7-a7e0c4198927 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:66535e9e-1a96-4669-a437-5a81ef0d9cec phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:8fe6e74d-59ed-4cd9-a3e1-a8fc0e8d783d phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:ea1d7b39-d316-4741-a9c5-91a02034d907 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24039054 uuid:e10b04bb-5981-424e-affe-67315cac649d phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24039054 uuid:7a9b0353-b249-40de-966b-16f6da0b4da4 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24039054 uuid:774bfd7c-ce4c-4180-8a39-b0d215d3f85f phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24039054 uuid:8bc475b7-d6f1-4649-8d4a-7eaab7741363 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24039054 uuid:1dc70bf1-f253-4252-aa5f-d7907be81488 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24039054 uuid:e4dfc633-3b99-4a2b-a657-cba0287bf39b phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24039054 uuid:a4312bf4-4900-4be5-8686-3bde3e444e93 phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24039054 uuid:a23fe83b-66e5-4e05-a2de-6fc8de1ef2ac phenopacket.store:FBN1.PMID_24039054_propositus biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24039054 uuid:f6b1f71b-764d-4f8b-9707-ab9e3778220b phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:576a19cb-0ac1-4799-bfee-819e89bea185 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:41583374-290a-444a-90bc-54d038ba409b phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:5c074f7a-20f0-4908-ad88-572ee0fa48a2 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:98ab136f-e0b2-49cb-9b26-26cd4ee42b6a phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:aa84cbe9-27fc-4d47-a387-0b0a052030fb phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:d6de2aeb-2bfa-449d-872c-0b67c35c63f0 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:b7bda4d5-5432-4f55-a1ed-8e3fd06a4e7d phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:5b866334-478e-4b15-95c2-a84a2c66b64a phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:346a720b-4c02-4f1f-b2e6-f16da521867d phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:5b549653-50ae-4e47-889e-e1ecb850e05c phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:99b1283e-80c7-4351-8cca-7aeb265fa77f phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:ac0f8826-68f0-4210-ac86-d3178a9d8fbc phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24665001 uuid:b54c7451-d94e-44df-96b1-89de7b9ccc86 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:5c5e138e-3c39-4069-b341-bae581b82272 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:c07c3541-ddc4-4696-be4a-e497db1c16ad phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:e4671cb7-c527-43f1-9e2f-7928872ed08e phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:8662f6b1-b653-4712-a957-9489d20b3075 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:b29db29d-7d6c-470b-9f2a-1610c1446339 phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:12cff9f2-43c0-4675-aae0-bf455f3eb01f phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24665001 uuid:d48d16f7-ef78-4e92-adad-2f5a46a50f6b phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24665001 uuid:4c2e6694-ab20-4f8e-a14f-0ad0b4836e5d phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24665001 uuid:df7839bd-3ed9-4a9a-aeff-7dc8abfcef77 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:3dc1b581-e3d7-4ee6-b670-02a2c98429ae phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:9eb3fa12-0359-41cb-a37c-7edd495b328b phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7192ff06-cd56-442c-963f-01478c61ab57 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0007720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:92d1a6f8-2163-4ad9-a456-5e751e52925e phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6752a6f4-950f-4b3c-a570-ef3b1f355787 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9839adaf-6879-45a4-b8b6-5f94cb3e64ee phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b695ab00-a505-475c-ba7b-d9fe90ee1ac6 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7c1eaf57-807f-4edf-990a-6dbefe5f58f5 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a53c7a26-8d74-4121-b5ce-72a6c30bdfc1 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:72a51e29-a9af-40d2-8f56-b9f905f81311 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b77bec3b-a4b4-472b-9bd1-6eb39a5020ee phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:92e4c2fe-bc41-4de3-9eff-a6b8d599f8c4 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9e083f62-0ebb-4380-bf30-525d6f5503d1 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bd6c8dde-9cfd-484d-9559-549660e2bbb8 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:098a1ace-ea7a-4d3b-8f05-7d428a0e3d72 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3a09fafe-857a-4900-b208-6f192862a824 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:68b7f444-1b68-4e29-a1f2-38d4ce347b89 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0fa452fb-d135-45d6-a723-d3edafc95eed phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cee639f5-8b8d-4d7a-b1e6-9bccdc3a0ad4 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a8652cf2-05e5-4a6f-93c5-f1153a287d55 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:32e7a066-875f-41e7-890b-253d051aa62b phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c4a815d8-bf62-456f-90cd-41a53312d1da phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f5aee665-ec81-4dd6-9962-4e32cd9dd7c5 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7a13d60a-9023-4600-9bb4-029d0415bfc7 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:651f4644-48f4-4d28-a619-2617775489ab phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d99a63db-f3dc-481e-82a3-04096f454c80 phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:04d9eed6-c55d-4c46-bd51-c2a7317c7fad phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:992377fd-d836-4ba9-bbc1-cca1996cac9e phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:85022f34-0c08-4d91-9e4c-ad68790457d6 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:20725585-71dc-46cd-8562-e08b3c46092d phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:8d7e8589-b18d-46e6-8904-568738170f49 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:07c18aa3-c3da-4726-a10a-9286273cc9ff phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:980d6ff1-8a62-45d4-b1e8-43e353bc0e69 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:6048fd69-9b54-496d-80be-773a1beb0eca phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:1e5481d1-889e-475f-9d48-ab7c3f966337 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:2d209fb1-029e-48a7-bba0-db7fa95ccb4f phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:c5778532-deb1-409f-84e1-1becd828b663 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:98e5e9b1-c795-490f-823e-d9c8261aab79 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:42303406-0049-4e4a-9e07-b48f9591601a phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:01e00de4-c5a3-4ae9-8176-2bfb4b47061b phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:e45bd331-ccfe-4a8a-822a-78d41168dac7 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:d93dbe00-ad41-4f34-b537-3b93053a94d3 phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:96dfe93a-c1db-4ed5-b93a-31798a11834e phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:ae39ab84-ad45-42f1-9f85-22f2c5326e9d phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:f535cd35-50a8-47a1-810d-1b3e66f8a77e phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:d594a4e0-839c-4bc4-86b4-f72cefad4939 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f331fb69-7c44-4d9e-b9fa-cba5f9bac1d1 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2b9cac82-abfd-44d1-bfcc-b5a42a5dcb00 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:16e04105-dedd-4be2-9aaa-9d1bb261e714 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1f53aaf8-bfb2-4d76-9b24-2f8ed462008f phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:601e9562-11a1-420c-ac95-906a346f4138 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:302b60fb-7539-4351-aa29-166dfdaa50b7 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e36b7015-c056-45d4-b7ad-09b59a36fef3 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ecf3fe30-1555-4350-af87-9d33e68f37da phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:fcf91bd1-bbdc-42a5-8f19-96cd06508e49 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:462c2622-71c2-43fe-a2e1-9a379a83681f phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a14f3a72-07d2-419b-be5d-bdc52241a0c3 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:98cde1bd-e2c8-41b6-848d-1d329f4d4739 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3560d949-ee8a-4ffd-89b4-b13fc3393040 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2adca4a1-d3ae-4e12-babc-47d3af6f3ae7 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6fcbd28c-532d-4a12-a379-3eab4492724b phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1ce4e797-e1f7-4560-8608-52373a80592d phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6972bbe2-e3fa-4325-868f-fd1fb7a979e9 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c98b0747-fa09-4d9b-802e-7e730d0399ac phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:17fe7eb5-8ed6-4836-87da-7b29c0677375 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ce6514f1-0003-48e9-9971-9872bc6dc4f9 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1bbf95d7-0124-4188-9810-cda8e17728a3 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e10270de-aae4-4f4d-99ce-7d3bb0236df6 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f258f73a-1e52-4b0b-8635-53432d9875b9 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:10f6e2fc-27f6-4fec-b00c-475e8da6fdc7 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ced32810-122f-4bfb-9cec-f758bf656fff phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:054de17e-5415-4edd-a06f-cf1d1a4776d7 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:32c80598-c74b-43c5-9ba6-a04b0d646307 phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:e8ef784f-5bb1-4d41-b2a5-f24015f0d3da phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e076e36d-57b5-476b-a78c-b27b0d6a3725 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0f7a712f-a6ce-4f2d-8c48-634de05bb0ae phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2a945738-6ca8-425f-9ba0-ad46f78f4057 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:fc154342-c608-4183-be17-5b9c60d3e23a phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4d11bc2a-045b-4375-be76-bd66196c7d88 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1d0c56a5-5e87-48fe-9f7b-bc1220486bee phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d11c2a32-f592-4df2-92e6-8458e93b1223 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:679d00e1-27f0-4943-8e8c-3b2d2024e7f9 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e456a37c-c7a8-4eb0-b719-d9afbe59ebd4 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b00d9dd7-ae49-4a7e-b14f-36c67caa7f4e phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f59f7539-8d8d-4c80-bfb6-c7a6abc8b89f phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dadd1352-6fab-4546-8470-a238bf4afea3 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:86216052-017d-4b3b-b8e6-173622085ce9 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ecb6d656-3f45-499e-b80d-49017294dc4a phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:30b8184f-8515-4773-8f17-f95b8efb78bd phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e2a2d5cf-3703-4d77-8324-7dbaad7e33b3 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:90ebfdaf-b009-43b6-8834-a67161c89e6e phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7f6b2a15-da1d-4434-b814-913d9a398d60 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:39230852-c9bc-4b53-bf55-bdeb152872b7 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:577d5563-06c3-4d52-8a99-2da67d185d58 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:27f1ce71-4901-4234-83bd-f1a7e74db66d phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:67b14ae6-e494-4f55-8e1d-c85febc80882 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d8fdb674-c6cc-4be6-a268-2cf2f289c9d7 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d42bc3cc-e372-4a06-8dc3-829cf0efe99c phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d2301a68-e6aa-4af9-903e-82a8738eea51 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c0eba81e-4f89-45bc-a775-8184c684d9b3 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:16154d27-15cb-4a98-9931-4de1276f5ac8 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:a84af7da-fec8-4735-a945-68c8dc94b982 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:003e5e2b-54df-4ec6-80ef-a79a79387e09 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:257c94db-4c7f-4fab-8c8f-46b46c73e499 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:43085920-66e5-407b-8ebc-87a176104e82 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:9db9d2ef-79bf-40d5-b0df-50d7231abc76 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:d20f7d36-1c35-4c62-a526-1ed52f9d5f6a phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:20d712f2-0e71-4ad2-afbf-ba8dac95e554 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:ba255688-c06c-49be-b804-023984d701f9 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:18a71418-29aa-47e0-8e40-ed1db7d1d458 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:4f3b8911-1818-4f39-b6da-702ce4eaf6e9 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f4043d68-5f47-4bd0-aed7-7557357b1f02 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:0cac4dfd-f4bd-4af8-bb73-ae955a9503aa phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:8d1af6f0-c391-4085-94b2-e4642bcd66d4 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f3de5703-5d60-4e15-a8a8-5e3423d28573 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:0b28b5fe-9576-4ab3-9cde-9983155282d1 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:7c1c42cf-bc7e-4934-a49c-7b30395a720d phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f331b5f1-9144-4403-86ce-bd07afc4f840 phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:33576469 uuid:b91af999-d5ba-4770-aaa2-5c3a4ad9fe4b phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:a8e38282-7403-4cb3-83ff-d27ed543ff3c phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:11175294 uuid:fbb77714-e977-45a5-8bc3-6d6f850fe955 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:36afffd3-3e81-4960-ae04-788fb33e0bd3 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:8b8d3305-066d-45d6-83e4-3a8675a6bcd7 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:97fc098a-bc84-4948-a8e8-802cf8ca3c8a phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:4efcec83-736b-40df-b4cf-84f8a44e9f71 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:9bed2e75-b4c9-4510-820e-f27c04bdc202 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a525b274-33e8-4017-b41c-c3f17af5bfd7 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:951c2c31-54fb-484d-abf7-c3db91d6a663 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:2b22d65f-7735-4df4-b3bb-7859c27e1570 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:9a31dd0a-a799-4016-a1f6-56f50e3b6486 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:d46261a2-49a3-4a2a-8c1c-541aef4c87ff phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:04e96fc4-79d0-4909-a3bc-844665a729a4 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4fbfedf2-0a26-4dd0-acf8-d46b98a05220 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4a50dca8-5c9e-4230-9417-472fb822d1b0 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4ba78003-8fda-45d5-abc9-3153b904e2db phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:fb27a0b7-ee6e-4a28-95ff-af1772bb4f53 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:71e86cf8-274a-46cb-bedf-2e1fb69a5d8e phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b3fe989b-ac08-4e70-bdb2-1f61183c6f9d phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:6d270f9f-7323-4e4c-8e74-ad4aaccd5b04 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:2b083759-f394-4b51-81cf-2b09c767fb86 phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:d09e1eb4-5751-44e4-87a7-9d9b336449ab phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:aeedaee2-d010-4a10-9d80-d88c4e9bff4c phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2e462aca-9582-4020-8219-6bdd0de4353a phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e2be5c79-0e74-4496-8ead-4ee49b9c36c0 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:44555aeb-7e68-4c01-9158-c29aa61fac6a phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:23593d9e-4330-4195-a8e7-eeebadf8c064 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8e119e00-5cd7-4008-b559-4170b82a34a2 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cb449d88-4354-4564-9311-47a5fda5d153 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2866abe8-d362-4389-a455-5e704996e073 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:729466c0-f247-49f0-993b-cc09c28d5b86 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d773830f-5e51-4273-9342-04f0e1952d91 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7bd119ab-e4ec-44a4-8e09-78e802b7414a phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:edecbc32-8089-4624-8042-561f7f57d104 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d4cdbd75-d229-4693-a71f-8b3c3c8cec3d phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8777a95d-154b-4fb5-9f8f-4f12f4efd25f phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c916f707-75b6-4831-832e-afe05b966729 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e02bc013-70e6-4892-9f4b-88a75f1b71a8 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:edfeb07f-b864-43ec-b0d4-5bc62a25379c phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f84bcf0e-a3b3-40d9-bc11-6269ac17ee2f phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:86a473bf-ceb6-4989-b376-1057697b8484 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b16720f5-cd52-4b3e-b67a-c20646671407 phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:a6f1dd78-6dbf-4711-bcc4-b675814e2d2c phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:484d7a8c-39d2-4637-b6b5-30b59e04e719 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:0324a877-f78b-4f76-a079-4b2b3fb41266 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:c9a4c6df-fbe7-4dae-be04-0b4a0c01377d phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:ae8d2803-d7c6-43a7-aa12-e79e0900c7bc phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:8e52abd9-7668-4734-b4df-202a6a9b0490 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:03576f17-c7ef-4a09-8d9d-4b4461ff5ec3 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:f1d84779-3eb6-4f90-9eac-3207af38fa91 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:336f983f-d09f-4c9f-938f-dfc3d1d2ce60 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:fb36a548-b2e4-458a-b33a-92586c0fea2e phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:d34b52b4-20e4-4caa-be59-5ce343e14153 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:e018d61c-7317-425c-ad5d-bef1df6b215a phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:bccf0f26-1576-432a-b01f-0d91bc052b49 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:20d127b4-e8ba-4955-9a30-707cd1c1d8b8 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:d609d501-2e24-4a14-a5b7-cdf5e5dd8fde phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:1c65a24f-5cc7-4760-8c87-861f97266a34 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:d3d55b6b-2216-4ea1-bc06-22ea1504c7a6 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:32404357 uuid:3ee616d3-1ce1-4d61-a07a-15ffb0249b9b phenopacket.store:FBN1.PMID_32404357_II_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:52dbb758-2ef7-4057-9ab5-12ec67896cd0 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:12203992 uuid:d747f7c6-2922-4b29-8f82-f289fe8064f6 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:8dbbc32f-fa18-4083-b93e-8254e15c1ba7 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5a403189-6cce-4c33-aaab-f5cf275f11d5 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c232aafd-3686-4e9e-8764-d48f27b29fe5 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:069d27d9-1f6c-4746-90b5-302baf055da0 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4266e6ae-e005-46fe-a3cd-2a3aefc16d7a phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d4076cd2-6af5-4e77-bc67-6b74df1e3052 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c2b8778e-738d-4689-bbbe-f3513d89110e phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7467dc42-8e17-43b0-a4b1-b8dd5358c1b4 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d06917f4-e3db-4ea6-b392-f0d44f695d41 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e0dfb8a8-8a2f-4af0-9640-b8d83202b5a5 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:47400a84-808b-4c5c-a153-6820ef9ed001 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cbc654c2-31fa-465d-aa87-d04af1578c39 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f2aaf59d-6b5a-4d7f-8438-0a8aba6812db phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:66124fb6-6061-4d1a-8217-77a58645c0c1 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:494690cf-fdea-4099-883e-97632bf56c36 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ca99635f-54d3-4b6b-9c8d-44e1a29f6a34 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:496d1b8b-6de0-4adc-9245-1e36b0c5eafd phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e4933490-9aaa-49ac-9556-4b3b8136bde5 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c10578bb-d585-419a-8f34-f9a96aad1ccf phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:755a8941-6eb8-428e-9fe1-6ba48ead2b76 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:73467d6a-aca8-4075-9796-ba9e91c6b092 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7b46cbc0-f4e1-4014-95c1-9a4a6054ef64 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cec6e794-a6ca-48bc-93d2-463e00233e30 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:84f2ab42-430c-4da3-af7d-584113799ff5 phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation P43Y infores:phenopacket-store PMID:12203992 uuid:03fe3b90-16b0-4a9b-b44d-7737bb0fa28f phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:4edb59a5-1023-4429-b243-8c8d3545d9fc phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:f66f6876-e817-48c2-bbca-4a9e1fea67c6 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:f98d9edc-f6b2-4c71-8c49-09980ee11814 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:a853480c-e797-4e9c-85e2-6f1e7b8af075 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:7a36becb-78b1-4089-a439-06762a049deb phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:ead5d74a-b44a-4191-a753-aea6990f9f0c phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:c94be61c-50e6-4372-80b6-a07764ca1b2a phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:52ddef58-38d9-438c-a991-34414885f54a phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:b59f1af2-95d0-4287-8ce3-31b19f3f2d90 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:7c3722e8-badb-40cc-8f12-2dae5604a3d7 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:45bcb7a4-ed37-4327-8688-ce0f23ebc427 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:275c6e44-bae5-40b7-992b-a713b2d877ce phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:d0b6d5cb-d4e4-4ed7-8aec-c91f8885ee7d phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:73f1d480-d8c5-4ebe-bfb0-1a75c43cf4dd phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:c6ead4a4-31e3-4b36-b782-b0624ffcfa83 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:a7e80131-c868-4698-9bd3-111c1e9192e7 phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:1be58dac-f97c-4298-8899-9242b5b60e33 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:1f73c4b6-6567-45ef-b0de-2a106036ee91 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:03c46f52-961f-448c-8dc4-50c0d1fb6bea phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:3ba8fece-18e2-4d81-8af1-0f59d86269a3 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:5313fa4b-9e6d-4185-9a20-e19c48aa9d21 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a1597331-8144-469d-8fc5-6f9ebc585ec7 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:8d493e8e-87b0-4526-a9f7-fa596f18a332 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:1b14fbcc-7ebf-4efb-8a9a-e941aad5c462 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e4eecdeb-0bd2-4137-8ca1-74ec0816ac67 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:a0436fcc-6058-44f2-bea3-3f95edfb73fe phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:1fcda823-8da3-4575-9962-5da2a337d80d phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4fa7b7e6-9ddd-478c-9e1d-bd07ea7ee807 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:6ee5835b-05ef-4993-9589-6e129083f793 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:69abf200-fb57-4737-924c-e6fd99f3cee0 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:69d1c3fb-bbd4-4351-a30a-376659295690 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:3c8c4d3f-4feb-44fc-9043-6a8df284e7e4 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b3d7c3a1-927c-4756-83ac-5e1ebfbeed69 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:012f155b-8b29-40a4-be96-d1487a803d2c phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:765fde54-82e7-4dcf-a3f6-33ea9f43fc06 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:10e0c35c-0c96-4523-90f2-1d020116adf2 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:10d172d5-1ab7-437b-8635-41b1da1d49e4 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:e2c4e214-f716-48b8-9c53-cf8d623e3b47 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:1d2dc202-20c5-4222-b97f-90fbb78c9f80 phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:91505e96-cde8-4e0e-95d5-21a125bdcb74 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5b9738fc-48c0-455b-b82a-0cd948e25497 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:22ef6612-101a-4f6b-89f0-839d1734c2f5 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8f07948a-1810-4f19-aa79-2d1e6d550560 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c2018acb-4146-410a-b781-a241c88af9f9 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e38e64be-42b1-41c6-a10b-926b9e899301 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0ce3def1-b570-4d5a-87dd-03789f2c9c60 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bd29ba40-6855-4380-92b6-6ab87c31f7d4 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e29e6c2c-78a4-4cc6-9752-dd7a18b710fd phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b8015f50-382b-4995-944e-b2504772b742 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6e0a11e2-742f-4261-9896-9965523482b5 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:56423f97-985f-4558-b2b3-fdab8b515284 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:97384a46-8684-4bd1-a28e-88599aa98cd1 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:32c00a84-9418-4ad5-8a84-fb8e2898b6d4 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ee97a5a8-cab4-4b09-b61e-6c5058884e8e phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d3cb12b9-92bc-4043-9bda-ec4fa45bfddd phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ef3f4435-fa90-4ed1-8cba-3d48b89adde9 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:53d0f666-fd21-44af-8bb4-d39f491ca48f phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:52737b4f-1262-4328-b3c7-8224cba3e0c5 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:45abf5fe-66de-4e68-9654-cd17186de6a0 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:bd855423-37f9-4e48-9fa9-2c8a0554fdfb phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:249cc9ba-f1ee-40d9-84f8-cae093c5634a phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:f4dafe55-55e6-480e-961a-af31cb4e13a5 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f3ca61fa-41ec-43ff-9f9e-f827eed749c5 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:97c106e3-4b34-4aa7-a582-019cb2d0b606 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1e96cd7e-1eda-42cf-8bca-924cdbc167d6 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:7340177a-4e9c-410e-98cc-96ca7cb95634 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c1f0a1ab-7789-44fe-bece-25e0cc994fe6 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:38189be0-87f8-441e-87fa-3ede3da4ab52 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1b884733-c870-480e-a57d-bfa18f4ea861 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c2c00f3f-881e-4ddc-ae6c-084062f39225 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e2d2eac3-4568-414c-ad61-700ccd29f90c phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:7cff8d94-5ac3-445d-93ce-fb8bd1302daf phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e1a2c644-1b33-4ec1-9f63-9da3840328ae phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3a26909e-738c-4244-bd07-b3ffbe73d430 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5e734350-467b-431d-95ff-ddf0a1841a88 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:39e92495-4103-4517-9fc9-7e21a9e9c409 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6cda9f76-ba76-474e-af10-8b1a5cfb29b1 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:16384106-5ef1-409f-97ac-d2f518ee523e phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4a0d4f5b-11b0-490e-bc44-7fee15228b68 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:eed60bd6-4f98-48f0-a33c-a2d948c99764 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:91b5d481-e257-46bb-8ab9-c87df9664443 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:91667892-06c7-43ea-b6b0-5ea27ee81641 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:72293678-468a-4115-8bfe-b6ab86738a21 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9d3e47d4-5c77-466c-9cd9-ae5fdb1b6efe phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0f057585-dfab-461e-bcd7-431a0d42d3fd phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b30d19a8-3edd-441f-93d6-e3d7e11c1d45 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e967f4eb-d8c2-4944-b589-037dde1071d5 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1727bee8-5370-4bdf-9698-d88852a2b9c8 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:81efa404-fab0-4f04-9690-65f513631ac0 phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:6f0ce8f5-2a81-410d-b18c-4f89816cd1ec phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ddcaa0a0-f684-47e2-85fe-ecd13f518dd4 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:aff92698-6396-4a29-bbae-faf5d33716ca phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0007720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:45197480-bcfa-4037-9f62-aa887edc35d1 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:42171368-b9c1-4c76-bb92-3e33b3494728 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a9b82eb1-4d40-428e-9c24-edd30d62be95 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e193bc8c-7748-4c1d-8b86-556fe260934d phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d82c11a8-edc7-450f-8653-cf9bbee67db9 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:44eeaa0f-b4f1-454a-94a1-3e7b31cf23d6 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:467f417d-9394-44f2-9c59-2791bb8f2e1a phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1678d327-b86b-4c65-8b32-4bf480b70341 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1ef09655-9d57-43fd-8e41-3fecabe21355 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:54118a95-c49a-4a88-be9f-937bb7408a67 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:62961583-91b3-4793-8f57-87f1d8c9b7b8 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a691713f-4262-4335-8224-f38cfd257eaa phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6a5e346d-d629-4524-9ace-e4f353472358 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4c990298-997b-4732-a9cc-1032edbe42ed phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fe17df87-6686-4daf-b442-f8127579d666 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:500e7db2-adad-4e4e-904b-553d6f856a07 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6c889d84-dbf5-4cab-8257-e55bf1ced2a4 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ba1be5ba-fcf9-4807-b6eb-777ddbe3843f phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:401d5f94-da1e-4bd3-8394-7f7e4f4c25f6 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:875f138f-d19e-4c68-bd65-02f8a1a71c69 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8ab5fdde-2370-4065-883b-ba0a0d6ed165 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1112f702-4c20-4f90-9ece-a027401b728f phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:15c1d489-674f-4948-90ec-564c89c601f2 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c40aeaf3-01f1-490a-b247-868459ab948f phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0b217332-2396-4e12-ac94-d324b7938f8e phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:a763d2b4-f57c-4832-a73d-71032dc62375 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:40c423c1-26e5-44bc-af91-c2a2bc736e25 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bc45a23a-71d5-4295-b57c-1059f15ebed3 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6a6b91e4-2454-4da6-bcb3-861596c4fdef phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1d38cb0c-18d0-406c-8687-708238fdce8c phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:43edc639-cd3b-47fb-bded-9ed2bcc633b7 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:86aee2f6-6f1a-4bd4-bbc3-30af11afc1ae phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:2ee992e5-07cc-4d54-a052-99ac185a5c5b phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e4a3d446-33bd-43cd-9310-d660b41a6fc3 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:19a3cac9-ad1d-464c-a6ae-f4091e8d256c phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cd60e254-aa8d-477f-bfc3-f260a9a6579c phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:95db7cf5-9a49-4d35-be30-16d2e7e831b3 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:414c7abd-8c9b-4797-8eb2-54c6673d8ed8 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:af10e70f-dfd4-45ec-9e68-8792f28c0ec3 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b78668d2-2326-4806-b812-b5cd30952914 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4cca4175-86fe-4dbb-bbf5-b1541514addc phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:499e7a21-df79-4b36-9aec-f4fb93a96e84 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c320958e-42bf-42d6-848e-11a4616858e3 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d867a408-8836-42b7-b419-ea561a00121d phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:735abb07-357d-421d-88d7-2c0c540b724b phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7acce89d-eaf9-437f-8f63-f3246ddf79f7 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a8f6b588-0bd3-487c-87e2-1be5b4d1e806 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c187ff0b-4ce7-4ec3-9609-327c3a9379d3 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5498ced9-7bef-4253-82c1-8481e56078af phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:eb514594-0b7a-4657-aeeb-f24783c440b9 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f514035f-9956-4250-afaf-0be8e8039d35 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:089bab58-ecf7-4584-babb-2ba6e7ad00fe phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9c162899-520c-4573-98c9-5dc266eaf800 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:9fc5cb92-3aa3-4b7c-9281-f1825f989929 phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:792f9ea4-d572-465f-b10c-83c2979a7452 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:23412efe-fd43-4d9f-bde5-f4ba513bfc3a phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:276448da-3ead-4f1d-80ae-b39b7df7f7f0 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bd376a6a-956f-4701-a6ca-0f0c0c9d8f84 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:9c2686a4-4f0d-4501-9ce6-a72ec18be177 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:40b40ae6-996f-487c-b86b-f11338d5ba9a phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b898bd5d-194a-4949-ac72-05a981879448 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:580b728d-a504-4e5b-8619-3bc1c2bbc07a phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:668a2b4a-04ef-43b8-a3a7-d70b4478bbee phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5b6d83d3-a165-4264-9a56-388c802920ee phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c616c5d7-cb30-4d89-8fd1-daff125a9f2f phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1f660a85-d779-48d2-92f3-ebd11da0b725 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c6c49055-dbce-4f31-ad9f-25c4d9c9bbe6 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6df79b35-628d-486d-8163-dd134af335e5 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7e7b7a24-3e49-4856-929b-e1623ca143fe phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:afe3ecc5-2155-4623-8e4a-550f08255308 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f71b0ed5-15c7-4649-adc4-d52e7fd26c8e phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c7c4d95c-f209-4333-83b2-238781ce3e93 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ef240ccd-6f36-4b07-ae62-17546ba3c96b phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:882c9a3b-6f91-47b1-babf-ad001cb848d4 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:00750159-9839-4f1f-b7f9-f95f1de6338d phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9da543bd-ba2c-4d64-afe8-56b3305c6015 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:926cbdfe-c82e-4adc-8c1e-10bdbed84af9 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3fefe864-1455-4e26-9f2d-d9d8f5092c58 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3c130430-c579-4eb3-97be-4be4dee7f1f9 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b071cbea-c6c6-48e5-9eee-014d95afd297 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:945b3ca8-24b0-4c93-877c-6b218717dd09 phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:c86e47a6-c25f-4a64-8c4e-d96d710711e0 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1ab92bf2-b86d-49fe-93e2-88416160d0f8 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:543b650a-a96b-4b94-9ba5-30a5e4d13e29 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5fb95812-95da-462f-a1f1-1d609361671e phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5436b38c-47da-4a48-8831-125019948adb phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:55ebb05b-3d08-4dcb-85b5-83c2c4d37302 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ec769f73-abca-4fbd-8a6c-ba63535be635 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4daccafa-eecc-4f8c-afa4-222905d05bcb phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:dfd0f1ed-e693-450d-ab37-36e6bb07b393 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5a1d31e2-467d-4913-bb33-9c6cc71346eb phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8723fd6a-f156-406d-a910-74b5ea46eaa0 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:22368358-ecb5-4c61-9ef5-163d6abade4c phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c745a813-e717-4548-bd10-a54e7e00cc01 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4fac5669-577c-4782-91bd-055d6cf2ab5a phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a1573801-fe44-4de1-b64f-7e2ddafc7868 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9caaae4e-e259-4b69-8822-e1bab1a982af phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5f0fb6f5-79ee-47ae-ad0a-19a974a32577 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ee9bfa05-46d5-43e2-9ab2-73e2ab495ce1 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c3ba7f18-39da-4cce-8a1b-8de2b90ae82c phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ab22244b-0ea5-49db-b599-2559c1cb623d phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c1220569-241f-47e0-913c-96d99078f4b6 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:89935ca1-9585-4135-8857-fa92fcdb8ca5 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:52569f54-b734-4ed8-8b3c-fff885bdd1cd phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:436e21d7-6f17-49f6-82be-06fa61c72c93 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ed4c249b-900f-4cde-be4b-720dbc0da84f phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d6a3b089-315a-4429-97cb-3d9895ef46cf phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:670609f8-6892-4199-b33b-84642e3121f0 phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:854aaddb-5b45-4809-86c5-05a602f4b41e phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:50a976f3-7db1-4053-ab45-419db6e4f30c phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0012499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:10756346 uuid:c3b46ef1-1197-43b3-91c9-0ffc19240335 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:6549ac08-1e66-4a7d-a937-8b7a0f6eaa2a phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:4024ba55-c60f-4850-af6c-2be838d4bc1a phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:377ad1ec-6a44-4bf1-9b96-a3e8fc6a2bfc phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:71cf844b-6841-4209-9985-562d6d8931af phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:acf7b686-5d5e-4f64-b376-8d0331d61980 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:0cd2c554-a96d-4785-b1ed-2ad9f9af31b9 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:759fe54d-dae9-42fd-abde-cc9f4962a254 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:8eac6863-332f-4d54-b38e-73b04a545277 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:a576efad-b8b0-4d8b-8b4d-323b600d6156 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:eb35e83c-a7d6-40d9-a47f-4e4eda96b06c phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:6e437050-0920-471a-b691-8e397f8f4a0a phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:f21c4a6e-a6b4-44c7-9c32-4f2182fe1ba1 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:376d46f9-1616-4196-834f-223331aed215 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:800bb27e-b4d4-43a9-b8c6-7cf123633485 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:ac94fc6d-3f10-4535-90fa-778d610fa5b4 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:dd4abb85-5630-4c4f-88c8-07243fc2264a phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:bb27723b-2094-41a2-9f5f-eed54a7c508f phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:7b91b9cc-cbdc-4c58-90f9-e7396b179a6e phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:dcdf714a-a73e-4d53-a03d-ab2de16adb2e phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:72b1b6e6-9170-45a3-b3e6-c9bde0555f70 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:42d734b8-2d5b-46ec-97c8-7cad0aedfe86 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:376df619-30d2-44e4-acbf-bfccfeaac73a phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10756346 uuid:3299e043-9c5c-4f20-82a4-a2f0e85a0514 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:b0852e41-2743-4df2-93e9-956818f20ed5 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:5e8ddd6f-28a2-4c22-8855-71dcda6f2a4b phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2b3ab6f9-8845-4d65-9881-ed0ab98acb6b phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:25f819e7-caf2-41f1-8e19-9743845a1f9f phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:987b6e53-39e8-492d-bb29-63060db611ab phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b01177ba-c593-4781-b066-37e5f36098c7 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d00b6d3a-611b-4e0e-93a7-f1eee20a97f0 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d84736d1-2181-4eaf-9ff3-2bb8d7e14e26 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f0417144-1530-485c-80a9-fdd5a46331aa phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4f837405-74ef-497d-af36-0f8548e47cf2 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0a5efcff-2387-46ee-97e6-656b9851cce8 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:68852349-0194-41a6-aa85-59c576be5fe3 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7167abc7-a21a-47bc-9d01-2425dfe355be phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8851a6a1-3ebb-487a-8472-984d63afd335 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7252a359-8700-424d-8c38-6d50802a0f21 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:354019cb-85e6-4f5f-acaa-bf3b4cae83c0 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4a318f41-ff83-4a75-84c2-0be8d81ebce5 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e9bbd8f3-e72b-4070-8126-edcc6125b103 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:25c31471-47c0-4086-b1e7-b9e2c10318b6 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:516e79fa-36d3-42a7-b808-3efd6a614220 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5f7ebd95-d163-4470-bbb9-4ba4c38c1573 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:43b3e759-ec26-4775-bd4e-64d720c35b2a phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a6b127e9-ab1f-404b-af72-d2ca68b9bb0c phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:601b1d33-1800-4950-add8-da64d410adda phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8f2e6b46-f365-446b-bf13-1abbe37ac033 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:33ae564f-eb45-4edb-b1f3-12fb5866abc1 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f211cb63-23df-48f6-a39c-4474d7b39102 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:2e9ee712-0dcd-4713-929b-7a38433da855 phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:a9f4b6ea-253c-415d-9396-2465b0182540 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:c8d0486c-3b28-42fb-a09d-106171f2080a phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:c1b7bdba-40cc-4099-a0d3-2e1d78bcaf66 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:2d052d64-ca47-4b61-b8e0-0c569b296ce0 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:854c76ba-1c47-4008-9192-e5058ff2bef7 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:20cda09c-7a2f-4e45-8c8c-f7c45ffab7c9 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:b963f45c-75bd-4214-bf76-61ef961b6e04 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:488a64fe-b56d-41ef-bdd0-0bf54e15c5a9 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:6c0cdbcd-6ec6-4fd7-ab7e-203ea7ddf13d phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:39828321-a725-4a56-9193-c6da866cf42a phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:b5755990-9db7-44bc-bfc2-d362f3f32e2f phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:6573544b-f63d-4965-8342-aff14cd52639 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4f8867d5-0824-409b-a0d7-50c6b114a0d4 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:f97c39a0-2111-4d9e-97ac-a7ef88205cf4 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:db85926a-5b40-47f6-8d97-d91c5a53e466 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:17dc0f36-046e-4d75-8926-1914a3ccca66 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:6d2e57a1-69ba-4e42-96e7-9c248d34661b phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:ed122a9c-6035-4277-87d2-e5b966565656 phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:512b9f08-1e49-4c1b-a844-dd5c95175a1a phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P62Y infores:phenopacket-store PMID:20375004 uuid:e424334f-0fff-42b4-9d64-ce37d581277c phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:2eeac46d-bdd3-4ca2-b1b3-94cb47b0cf46 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:aa82c532-ad54-49f4-8a2d-852c9a624fc9 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:d614bacb-e9dd-4b91-8526-5efcfea5728c phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:3c29ff39-7383-4b15-a445-0e1085280104 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:ee7d5243-b7a5-41bb-8785-8188b145d799 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:00db499a-d66e-4220-84b2-6762f5f0658d phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:b69fb132-4c6b-4eb4-80b4-0d7348763ef5 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:861f5321-1299-44ca-9f60-b06aeb67fa61 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:3a72b6e4-69ea-4218-9f2c-c6b2f4ad2d23 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:80eee312-4e77-4aa6-9928-43cc730400a7 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:19859fc5-3300-4ec4-bf90-fb587693a24d phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:2f2147de-e7b8-4594-abb5-e9a63b3b931f phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:2f597430-2789-4914-8f09-a6e2614eb87b phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:9809aa42-ac27-4815-ad7b-832769ddac43 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:6990dd5b-0208-4698-aa69-d8b338b5925e phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:fd7d29ae-7c0f-42e7-adc0-2be5b2501165 phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:2328fd4f-7e73-4f5f-92f0-81d5ca20da5f phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:7621534a-de1c-4339-870b-22d1fc5f875c phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:530b0ee4-a9bd-4687-9926-4a93e9a28604 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22219643 uuid:4fbcb051-88e4-4c12-b4b6-1a87334bb772 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:13e132dd-6441-48e8-95c1-c9811b50abdf phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:d793c642-47cc-4516-98fc-5233b7826fa4 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:3679d7de-6b80-4f63-806f-dc139da91cb6 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:ba4b66a2-31c3-4b25-9c70-9c369f495c6b phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:aa120997-09dc-424d-8cd2-293dca79540d phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:a5f0b24b-221d-41eb-9176-59b94f882b3c phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:96e29b45-22a1-47f3-95c5-b4d5f0949587 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:ac7dd7db-37b4-4f48-ac15-71d446db469d phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:268d2d56-bfe7-439a-922e-20185d34127a phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:bde20313-2f50-4738-afca-a2a045a6d70c phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:31fd6d4d-1abf-4b76-bb11-4a61cb2e1490 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:f19f97a6-cde1-48fe-9045-5debea2cdbfa phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22219643 uuid:4eb94610-916d-47fd-b7ec-f3fca5284ed0 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:c5742bf9-43eb-4c65-9c0f-ff5b63033337 phenopacket.store:FBN1.PMID_22219643_II_13 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22219643 uuid:26d0c41b-c369-408e-97ab-5c88d1936c2d phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:21594993 uuid:ad639695-9ad1-4bee-95a1-f5d12eb5b5b0 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:b66bdb90-63cd-444e-995f-beae95adf7b1 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:6cf159ec-4f43-4f80-ab47-c3d42c65f8ee phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:26a1e921-ac9e-4f54-ba55-948c194519ba phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:c8df76ae-b462-4bd5-9811-9d989c76f2e8 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:02249121-8af2-4935-b9a9-49ee3224bb1f phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:eabba125-7e24-43af-9508-7ddd9edc499f phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:a531bcfb-d7a0-44ca-87f9-231699df6dcc phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:184bd15d-e4bc-4a06-a2e2-8e6bffc3c5d6 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:1c7ad9dd-7bca-4ec7-a04a-2ead0284b3a6 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:3e00e63f-cb97-48a0-96f4-fc2730c4fe8a phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:c4f756d3-19d8-4206-8548-5f7f4261f64f phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:5895f6e3-827a-43ce-8d2e-82496be2dbdb phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:ecec8d0d-65bb-40e8-8a25-a974e63db189 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:5214a0ea-cf8b-4869-be74-2909b4ff3932 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:04924481-20ac-4ad9-b94f-4627690538fa phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21594993 uuid:2d4a1f1c-e144-4e19-ac81-6ce4ac346a5a phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594993 uuid:6f0a2423-89c5-427e-8f4c-c8fbbea7fdbb phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594993 uuid:1d266d84-2970-4804-9928-0b3781825b81 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594993 uuid:e45ab314-df9c-4388-a3d2-9489791cb9d3 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594993 uuid:42a7276a-d390-42b2-b784-8544516e4abd phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594993 uuid:111fb9d4-a5c4-4e8c-af27-25fd0365baff phenopacket.store:FBN1.PMID_21594993_patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21594993 uuid:2616b9dd-aa7f-4045-8367-e3bb39ce3856 phenopacket.store:FBN1.PMID_21594993_patient biolink:has_disease OMIM:616914 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21594993 uuid:c23d426f-ff61-4ff1-b0bb-34543a1cedfd phenopacket.store:FBN1.PMID_21594993_patient biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21594993 uuid:46c4db73-520d-40c2-a536-2feb93114b20 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f5736969-4734-4b13-98f5-f1e4705de750 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:22f14e7e-9d36-4f4f-8150-fdae70d1acd9 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:49c3b1b6-ceaa-41ae-9f2a-8bad522f813b phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8166bbf8-f9c5-4cc8-8fbb-8f68a1f6170e phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cfbb637b-4af1-4892-840d-995492840594 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f0b11142-5d1e-4001-a15f-f44c19278dba phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:75e92819-2669-4277-997b-97136dc3daed phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8345e689-b6a8-41a4-9a3d-0b8a54b0e92a phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1945186e-2a01-41a2-a747-ea413d2df184 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:29256d9f-ba52-493d-b03a-1d922e10cac4 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:8f0dc9d2-e3d1-49e1-995f-3a53148757e9 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:49ca34fc-25eb-4624-96ba-88bcd882805b phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b5493d25-a4d0-4304-9939-2273dd17f21c phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4aefc57d-dec5-43c9-b032-f6ebe6bccea3 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f8f822eb-911b-4c28-8662-d59d100e4409 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a92a1b12-4ee6-4d7c-8f5c-9124c16bbb76 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:abc21cec-78cc-4532-8df7-b8bb864aa393 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e2539c6a-243f-423d-9baa-2fb5fbb8dace phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ef0da797-a408-4fe3-879b-ea4390249cb7 phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:a90b5439-90b2-4508-877b-85076d065e0b phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:ade71302-61bb-47f4-a907-017329c27c69 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:b3ca85c5-7454-45e0-b098-3539f3f873e0 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:958a8920-db85-42c8-bf4f-319d17bff0ca phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:5c618773-3fc1-430e-b912-2d766fe311a0 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:f80b16e1-6e3b-4c6d-901a-e7fa902eda69 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:2383a027-6d0b-4e65-9a6a-cce774505db1 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:1f3c7954-f8ac-4a7f-a7e0-120d7d4932d9 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:3de87c13-383a-4ba1-aa65-31e2a4ae569f phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:cdb354ed-8fef-4822-9010-df7154c5b0db phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:80c1fb16-2894-4807-ad08-c89a055cc679 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:29b18da8-ddc2-4937-aa3b-e5d0d016e387 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:a190ee8c-589f-4ecb-a50a-27f662456461 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:3cd50fe9-a051-4dc4-af5c-1f0ababa66f5 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:9b531f32-10a5-4bff-a22c-8af73c30b3d0 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:0762f54c-a4d5-4d0e-814c-6c14b5f65f68 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:c02b6b52-2210-4ed2-af15-abac88e8aea5 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:4d153320-66c7-418f-94b2-450f2b923b5a phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6fa43e49-1597-43b2-8b42-1de65c36a668 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e65dfcfc-3195-4ff4-b7cd-e741a64bb1e6 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c7f423b4-d6be-4725-b2ad-6402185402cb phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7463b9a5-8307-4eb6-a607-dd26435e0fb4 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:314f9640-f916-4d7c-90dc-1a0e58c15a85 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0071d3ef-6089-470e-ae26-b0c018110f67 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4f4a0339-5f89-4b95-ad09-0310ae761a8f phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7547a826-4048-4a31-a9ec-52d3122b43b8 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:136eded8-28e9-4008-a89a-68b091a77fa4 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:133e257b-5a79-46ad-aacb-506b93082263 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e793d4cf-1eff-48ee-a085-9c131e2266a1 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9ae800b1-89d9-472c-8a00-a828813bb480 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:824c67a4-51aa-41e4-bf9c-3bec7d5a1d5e phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9815c184-0f7f-4a98-ae42-72717452825f phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:17fc3ea6-2a52-4f53-afa9-7342e7f8f726 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5d205385-8fcf-482f-8413-52a49c21dcbc phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:52d21451-d5bd-404c-8dce-0bff26f9961e phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d2119d37-e542-42bf-9d9c-b78ac0a71f18 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5eda7077-ce34-41e6-a1d8-e0a40b655038 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1bf9af21-1e62-48ae-984c-f6cd0e946589 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:587d4989-a488-432d-95e7-907b10e0352e phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b55204c1-ff0d-4a4f-9940-6eaf362fd749 phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:18c8ab0a-344b-44f0-b4ec-b1bc49afb2bd phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:695488a7-8e7d-4465-9c87-6cf31413cbc8 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:51745643-1d45-4e53-9b56-dfc7d29b1bab phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:2aac6494-c934-40ad-a3b0-8fa350ff475e phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:e9fe80e4-80b1-4b28-b18f-a3a3775f9bc3 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:049b9229-75bb-4807-8a55-c6ae90b491ac phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:c048a1de-987c-4304-b7f2-9750065b7785 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:540faeb1-ba51-4d18-9a11-ed49dc612051 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:8a8eada9-aa91-4142-96ea-3fd09b40f5cc phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:75d2af76-bd8c-42c1-91f5-3897e05d273c phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a2105ac3-33a4-41b4-877a-fb1a884f66a3 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:1215c4fe-015d-4531-9435-4c6810d78607 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:540d1ff1-994b-4fa0-afaf-47da46f99176 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:abf9a699-3c0f-4928-a5f1-991f60e72dbd phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:15b14aac-1dbd-485e-8384-197b7d86d940 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:353a9ab1-3c96-4f71-90bb-fd053842a3f8 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:dd006586-aade-44f9-a4ae-e71a83eeb76e phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:fb5fc658-9e81-452d-a438-b90542668858 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:3766baf4-9352-4561-8523-292dd87dc3b9 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:da1495f4-f270-4f78-8bb2-d2565574e3e6 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:dbce71d0-d311-49dc-b532-220b5c08c0e2 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:529e7d37-86e2-46bf-89fb-a7f2d8839f61 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:b170d38e-4fb0-4e97-9d61-a74f3e7e8c80 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:d4771e8a-979d-4f10-bcb1-a0962f6ce272 phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:dc71003c-8a9a-406b-b096-d3d3415d728b phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:20375004 uuid:8abb080b-fef0-4c86-9ce2-c82c7a949942 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:ef0b66c3-97f8-4ed8-984c-e980939ecced phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:a865b9c0-fa3a-4538-a368-84ba595e51a4 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:5620d292-2348-48f1-b0fc-6aa667bebb91 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:3c75df37-d0ce-4e19-91e7-71f509a2d4cd phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:0e588462-2fcf-4177-98ae-b7b1b8f8294b phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:441fba72-6b89-439f-aecb-79b4932bbd38 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:048a58bd-a7e6-48cb-ab2a-216ba1a7dd5e phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:42158f0c-1fc1-450e-a71a-0d4db51cfe62 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:f5604db7-e1d6-430f-8fee-f7918f388fb0 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:a05f839c-a88b-4a9e-9f90-170f98708a4d phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:ed543d59-8bae-4d7c-b410-21e31f68f7e0 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:948aeeed-2d4b-4b75-b931-7f14df1574a0 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:106d0a20-3eb1-4f8d-b377-5ddde675d009 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:3ba24dbd-d87c-4d8c-aaf6-2415d42f6a94 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:a7890e41-9531-4368-bb01-0df3b358e0fa phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:c3b16be7-6d90-4699-ab14-a83817b99f35 phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:6a0559cc-cdf6-4b39-8255-10eb577b54da phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:426d7791-897f-46f7-b67a-368beae942ef phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cfb3280c-0f28-450d-9285-75264008e9cb phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:514420b4-d515-4e74-a384-eeaaa2cd5f95 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d0e7b8a8-6343-451e-b2d4-78028079cbde phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c2f64a13-6255-437e-925a-f49e79b20d5e phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0c2acabd-0d07-4b52-bc1c-9eba00a27035 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c1319e1a-1398-4d45-aa1e-8a0589591c85 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a382c237-ef95-40f4-a457-cad8b125ca45 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:265e6454-56ba-49f6-b84c-eaedd54c7c17 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b420b282-8e31-441c-b75a-1f96514a6cae phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5a3f7d7d-ef79-4dc9-bea7-6ce0081476fd phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c1e18a76-5ede-46e0-8d77-fde7affe546b phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:49c35d1f-a701-41c0-9e14-1c6fcb1e45ee phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c081ec05-9f3d-4c3f-9330-5dd7383a50fd phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e95e4871-df6d-44a6-8f1a-caccc43d2973 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f1e7d9df-4bad-422c-b154-d10b9cfccd5f phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:de1b5a1e-72af-43eb-9554-fc7143b88a9a phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d8f4f9d5-c05c-45a1-ace8-d0a7107e3a90 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a332a555-de0e-41a4-9323-d06144dc36d6 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:89fdde4c-1e49-4f2c-a621-491f5f569165 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:ab5acd01-19e7-439f-b9e7-82f49015b49b phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:f09eb6e4-cd23-4f19-a21f-64234265314f phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:72a9cd63-b5f8-4ece-8e4d-53f021fcdb44 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7ee80147-3385-481a-a518-8787f0987fa4 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:58aef184-03bc-4e88-929c-e895bddd7f8a phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ddf63120-9e1b-489a-baaa-45b28fa451bb phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6049c4ea-7903-4ada-b048-f3c974acc975 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2324c30a-8c08-4af0-a8a6-77ef1cfa2cbd phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:95d692ec-ff04-4386-a9ec-dc5f2f028501 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:790f7716-f607-4dbd-8442-431179d5529e phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5c6a59d8-0bdb-441b-bb27-b15f25fef9fc phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1b600d59-fc21-4130-b581-10593eceb15a phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:38c9db65-d9fb-4477-8217-59fe60a7bdd9 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ba90be84-7b83-47de-8414-44f02b5aae26 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:af7b514b-579f-434e-868d-348f830f2d1b phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ad81e728-8196-47ea-a13c-ba8fbd81adb8 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b0990c74-9b7c-4645-9bf5-a9dec444b878 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:22e4eff5-16bf-4f50-b901-779a65c55c52 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fe85b337-83fa-445d-b59f-ff2ae13689ab phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bb843e6c-564d-4950-b3df-a78b2928c9c0 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5d7c02d3-ab2f-4da8-afeb-320a7f920eed phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7274bff6-8546-4002-a423-be380a654a25 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6b22efd1-3e0d-40e9-8194-69eb36adfdc5 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:919a91cd-38fb-4854-b950-797518b13072 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:00c0b6d5-4eba-4324-89f6-b8778ed76a54 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5fe41028-0cf6-4018-af35-17af3306dd97 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:42723b49-d6d7-42ca-86c8-b11f12c53ebc phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:969e2153-9fb8-4243-a89f-0f58900836a8 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:04ab51fe-23c2-4536-bce9-9b410c8372a6 phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:16cc3d50-3969-4405-b5a8-992a0e358cd1 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:52dab9ce-9f11-4af4-97f5-b799bdef5feb phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e5aee18a-2a32-4ba1-85ef-6094620071a9 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f0613ebc-ddef-4003-824a-9e30234f84aa phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2f6a91c4-8b1e-47d2-94ff-0140df29ece6 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:3404f79e-cc08-474d-91bb-8703d9f777e7 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:862cfdf0-72ab-4ee2-8e1f-b7e627dd2129 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f3573a78-4894-46a4-83a2-0b376a6a73d4 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:539f7bb2-8881-4dd1-9b21-6a616ece0271 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8b740785-03b3-49ae-baa7-346fc22ac879 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a01d5ee4-6a0d-424a-aa1f-5b04215d0126 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b30bfa37-5c0d-48f4-aa61-66088ce3f050 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1bc9b91d-230a-4ebf-b4f4-fef8ea9b0403 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8a609aa2-a541-4385-9fd4-5f87fb7c6454 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c9b3542a-3db6-421b-88d9-2ecd53ba3dd6 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0cb53c4a-7b97-4717-ac4c-c10c98529909 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:667284a8-600f-4de8-917a-0f36478a9c43 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:21cf55ec-6419-455a-b71c-df88e784c0a0 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d8b09d79-9ce7-4010-a0ae-9d6c0484d204 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e7f6f14c-d285-4e2d-9a6f-3c8e73dd19aa phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:332df004-b175-44ab-82d5-ba17b9bfff60 phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:920d88c9-0c49-4cc2-ac23-996b855b65cb phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:3160dfd9-8539-49f5-bac8-f080cc77ebf4 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:584e1b53-d079-4cc9-9fb6-a9b6ff21a07e phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:3ff6ecfe-fee9-48ef-81fc-d67b20572f1a phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:9fdf9ad0-cbca-4e07-b613-658b1fc7caab phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1954aacb-27a5-4ad5-a9e1-a6133adda277 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7bb4b7da-c34a-470a-a0fc-5359ee4a0509 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bab598c1-b43e-4242-a0b1-acffb55027ea phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:846e5969-b27f-4f97-98f5-d662365ef283 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:783ffc9f-1474-4969-872f-7cc86ce0a38d phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:affa92a4-a82e-4bcf-b909-42fbe35ad79c phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f0e7fecd-2b02-4987-b31a-6abd9ddcfdf9 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:9cd9214c-45c4-4217-9e06-25746c3fc2a5 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b9dc6d8f-3137-48b9-afa3-5ab5b711af86 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:04da02bd-decf-4e43-b444-5f842f3ace71 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0571d6b9-4ff2-4085-9502-055d207297bc phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0ee32c05-1bae-459e-80e8-2f0ff77df6e9 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:641c5c88-04ed-4812-bd06-425be5483782 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bf05d705-af53-48b3-b0ac-76d0897ce091 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:162b4d1d-d4a2-4a06-be87-03787e19f660 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5eb7e2d5-dec0-4db4-9968-6bc14167ac79 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:41278cc6-879f-4dde-9328-2598d14debfc phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:65891715-feef-4023-81cb-ebe5be531e07 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:658da732-8084-476a-ad4f-c643a170d35c phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ab1dcafa-4822-43f8-86bc-11993ea8afa6 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4d6b2495-ba3f-42e8-94eb-9dbabc85a49d phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:546273ec-1843-475c-bd65-c7ac0104e98f phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:9b827481-cc27-4937-8a72-3996032c514f phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:899b2762-29f7-4dad-94e8-c88a1d72ce9b phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:72261d32-b186-4120-926b-f36eb66c23cc phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:4e2c7a24-41a5-4239-be4f-33129abf4a63 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:40646293-4fce-4165-858a-a7286b3987aa phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:a17b39a5-100a-4170-a0e3-4c8c5fd08c97 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:493258bc-038f-4b60-89d6-d8cec609faab phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:2471a2e9-81fb-4f0a-ab54-e6bb24aa8425 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:dc83e4fb-f8c3-46de-b1bd-40743babcd15 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:0e7908e8-8fa7-4a7d-8945-66f1882bff0a phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:1d52d3b4-bc37-4ad2-b991-f6960b91c083 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:0691272c-d500-4907-9a4a-73f52c362bae phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:82ffdab8-72f8-4475-a813-87f9d58ed547 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:61aeea6b-f9e7-4dc5-bca5-d03f9dde86df phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:aecc4ce3-e46c-4323-8534-cda280f41721 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:8588cb63-929b-4144-8bdf-d74743499497 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:b381442a-4ed4-4704-8a1e-998dcc5a9390 phenopacket.store:FBN1.PMID_12446365_JL biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:0373497f-aa05-4945-8572-2b168337721c phenopacket.store:FBN1.PMID_12446365_JL biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:a03534fe-6a92-48fd-8af7-3556fbba7c87 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:edd5ab84-40b1-404b-be9a-f6b5797bb2c4 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:33e9d16d-9d91-4714-99d2-0039b889539f phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:55d56a52-342d-4cf2-a608-0b042bb49dad phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:472e7a7f-51f7-4f3c-9f1f-0a242c4b4a47 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:82147781-ec2c-4dd7-a6be-e0c4bc9d22ff phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:49391677-6cd1-4add-9eaf-e8d5a02ad00e phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:105f3ca0-def3-4d9a-b02a-52d3b84e4413 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:9bfe4629-3887-4c87-808e-aaaab367c780 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:0d24d1a4-472f-4720-966c-5893be0d8ec3 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:8bafb009-30cd-4e90-a07e-e7899dccc17d phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:f5c0be87-3a3f-4207-a064-452f429de2ad phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:64243e07-631c-4951-addf-7c5a2253b6ea phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:9527e342-acdb-4aaa-8d86-b5f02ba74321 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:f21aae74-7646-4a04-b2eb-cabe95813197 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:038e19cb-3bcd-416d-b83f-52ec90dd61d7 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:22736615 uuid:34b9f0cd-a143-4279-927a-6b924c28a0c3 phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22736615 uuid:7db484bb-daa9-46ee-ad74-380d791db40f phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:651976ea-8479-4e8d-a64c-562ee6269b23 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22736615 uuid:027debcf-ab2a-41e7-aab7-2b75decffd52 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:81cf2b24-0dfd-4080-b852-dae15a2bf83e phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:5befbaa9-3669-4874-9963-c0e9ddd51c2d phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:ecca7697-d206-40f2-beb5-aa3fa60cbf95 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:2d5969df-f347-4d88-aa80-a821f511978b phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:030e2fe5-e47d-465c-962b-cdec6b64dfa5 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:f8e83a5b-1934-4876-86b8-11c0f0bbbb25 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:2ce2b4fa-2835-436d-af45-25a16f25e4eb phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:94812929-c575-486f-abdd-56720d47aae0 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:0f70e5b6-f201-473f-8def-ce47ff8b3964 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:efd9dbbe-809f-4aa1-8ba4-0616c7b74e36 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:6785a029-6207-4202-98ea-591e29dece11 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:badb030c-e134-4529-a137-e58c3d96a9e0 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22736615 uuid:5f62a3ea-4275-47d2-8b26-6627c378f794 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:22736615 uuid:9c627e09-8984-49ea-85e3-36c07a830135 phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22736615 uuid:dd4b3369-44a9-4b27-9476-a43740b35acc phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:dde49479-7dcd-4d64-a0ee-bcdce33252cb phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:f4a35fa4-3f79-4ea9-b667-2c93a33f8fb7 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:bb22bfd0-ac4a-4a6b-8021-97c66cbc279c phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:7b172fcf-4bdf-4557-8a0a-84fa044fd936 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:9204beb1-50f1-43b8-929b-7bc237f10be2 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:36b2156b-ea82-4e19-b9bf-699c6d15d99d phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:4f83ee82-4706-4963-848d-c1666f2c50e7 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:8a47d226-c72b-4638-9da1-7e7414581f81 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:f4cd4c4f-d316-421a-99c2-c9653b5969c4 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:9203cc0a-0240-4646-985c-bd888ebce385 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:522da4dc-2848-4940-a7c8-f8a0761b038e phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:bf74518e-0ec8-41a0-ba68-38c7ae28a405 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:534ac359-570b-4497-8cca-0923b4bd44e5 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:895ab887-fe7a-4963-85bd-3d84b1104279 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:93ccd208-0065-4cb7-81a7-a364793abc44 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:2d037bf5-b8fb-45ef-bd5b-d4012e102c36 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:7fe94f6c-91fe-4139-8079-641b1021684d phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:d5517f55-0460-47ef-b3f2-69eb89462ed4 phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:86396b90-38ce-4254-accc-5f4b1fcb42be phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:f350cd26-991e-4588-81ff-851c064c284b phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:846cb52b-b11d-4a56-a4fb-06d7924613b7 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:22a3c4db-c895-4dc0-b6e8-7cafb04946ea phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:9b13ed6e-0c63-4dc3-b36c-20859e86f9eb phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:b849c6e4-630f-423c-ab1f-440149b602ba phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:ac02d500-f6bd-4384-85f4-d4af03788c05 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:5ca5e5b2-6fc8-41e9-a5ad-e0df89e7b6d5 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:acdea09e-48eb-4cad-893d-136424983dac phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:deab24d2-83a6-45ae-898d-c99ebc9ccf58 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:4c1d5ae9-4c64-49da-b576-1da33435ece4 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:15cff4c2-ccbb-4139-8154-316b3f0d1658 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:5e223dbf-0f90-4708-ae9f-5690d38e2e35 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:2abed751-f76c-4c4c-bf73-31f83cda95c2 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:8e035b91-7bdd-4c4c-86ae-d0b5c1e52231 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:80fa5f4c-9286-442d-a09c-0901b3dad092 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:e7903d65-21a3-4121-a546-bb1213e9c13d phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:2145fb75-0077-4c4a-a981-d38a56dbb1ae phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:fc127a51-5fd8-4c24-b8d8-8ab000da4493 phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:3b32e93a-7d2f-4498-b290-94c41f819142 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:97504c09-4a09-4d0b-96e8-2cf41dce456c phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:90f81cf4-38cf-4dbc-b333-ebd317fd03f7 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:d4a472e8-0a8b-4295-afd2-d9e191b65034 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f6a29e57-0e8b-490b-a516-87965f954da2 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:b4b4b23c-93a1-4ccd-ba2a-0e2b127de6ce phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:5b819e81-c815-4fe1-b157-95c7956e41e6 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:8021e8e8-414d-437f-8050-de7e9ecb7b2a phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:12f14779-147c-48cb-8bbe-9be70dce3202 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f138beff-dc50-42d8-9cf0-913faa605e16 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:73934c79-4846-46b5-b4f4-dfdcf4182ec4 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f11936eb-15f6-40e2-a9db-f4e3541d31bf phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:8a5d9850-e765-4415-9676-534404623a6f phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:9f3dce26-face-473d-bc8a-f6a25c9dc324 phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:346e2ef5-963e-423d-b287-46d46f87b01c phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:4859f349-3dbc-4896-85ba-fe3cafcee74a phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:33576469 uuid:5cc3df11-6a1e-4bf5-a929-dc5e41acd45b phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:5d9f8807-13db-4b52-9145-effae0f42da3 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:10756346 uuid:5ec11027-30dc-429e-ba3e-f221e3a734be phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:7aff0627-0f22-4923-b150-5a6bbf5a946b phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:744df881-0f1f-4beb-8f7d-1c8421045186 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:ce6a53d3-beb7-4aef-8791-c59f0f1a3c3a phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:ffba611a-6b52-481f-9104-92cdfee15110 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:128d17ce-e2c3-4cd9-9539-fa25099d0deb phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:065f4525-bab0-418f-9b9f-4f609d65b682 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:d7fce732-34ab-435a-8d09-eb46855660ad phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:f3290c32-878d-4f94-9b8b-f90b4137449b phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:b3f15cfc-f0ec-49e5-9a1f-c7f5f50e855b phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:3a1d7cb2-6258-46e5-aa70-b370bd74da02 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0012499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:0fd9c327-223b-4b6c-8cef-4f9a81c6dc29 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:23a258fd-a621-40c7-90df-b199e2283eb6 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:152a5921-6075-439b-b3be-1b16e52aeeaf phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:10448059-7844-46f5-a41b-5431bf79d6ca phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:0d6608a8-9798-464b-a64a-b4f37e742f41 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:84675c9f-e663-4074-90c7-f5f2b0f58fb8 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:dd9b42d9-4c9c-4cf7-b978-cf54a57d8546 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:4bf8ff10-1e8a-4cba-a439-144f43a229a3 phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:231be930-a5ff-4c33-9d2c-af4ccf1a9600 phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:1270bb1d-ed50-45f4-bedb-6bcf16a4d01f phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:4b14848f-d81a-4efa-b626-efd471b6b11e phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:00fb3a6c-c4b8-40ba-ab6a-85a908a437a1 phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:92e82634-4e2c-45f9-a360-3baa37af667c phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:2b203763-03ec-4065-b41c-dd9c5b216a5c phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:2969f467-68e5-48c3-945b-633074236df6 phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:05088485-52ba-48ce-8bbf-cb45fdc75ad2 phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:3b8d2d4b-67b4-4db5-8d4a-ea98650b593a phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:ee07ccef-ed42-4d4c-b2ee-0461abf44fca phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:e1340b1c-8389-48f6-a255-3d10d3c6a2a2 phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:97a41a07-bf60-4344-b902-a333b1aad74f phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:adef11c4-0e4c-4f29-9cfa-239c6ba6a4aa phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:6e1dedeb-ecd2-4b4f-9fb3-41cf7dcc2bde phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:4b1d3700-8372-4a10-bac7-08320a6d57dd phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:71682719-f2dd-4436-9e67-d7a9c8a30bb3 phenopacket.store:FBN1.PMID_8188302_III_5 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:cec05bb3-9e49-42bd-a2a9-e83e1cf32136 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:f5535ad4-ed1b-4851-98c7-6736751b3927 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:376de176-3697-44de-b930-63848d6ec026 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:612f2c0e-eb7c-4acb-b4ae-1dbe3d21bbf1 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:ea4837bb-3878-4a2f-ac33-ae135a3ec251 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:a952ba3a-bdd1-4d21-b15c-999cc9a414f3 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:69ca5d02-cbdc-47af-bc8b-1c1cc4c2a64d phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:84db975d-ade8-41fd-95f6-bda0fb0a293b phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:08a987c6-f65c-4ab6-bbc0-34f1651267c9 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:5541ac75-8450-4480-af35-ae0e47347e16 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:7037c7ef-1df2-4742-9bea-6b72b984b54c phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:118f8aaa-c079-46e2-88e1-50f4d50c4ddb phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:0e79aca6-9b31-419e-bb2f-60c2e3787d59 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:51541e53-b19c-46d4-876b-c86e3fd9f226 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:ba6d5c2e-b6c0-40e9-9a38-5e2c9a48f27d phenopacket.store:FBN1.PMID_12446365_OP biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:f7161f00-2336-4d48-a49d-78e1521e56e5 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:fe054790-cd40-476e-a154-e6ad28b8de62 phenopacket.store:FBN1.PMID_12446365_OP biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:bfb546ab-a80a-49dd-9050-053d74a4d8a1 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:766cb023-4fa6-4e50-a8da-3ff9c0d9ad8c phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:1ff3ed4a-b32b-4891-887e-de3de3a7929a phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:f48ff88d-7aed-457d-891d-1afcf7f2836e phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:de58c6be-9aa1-4a4d-8b60-bef0bd83d4bb phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:0bc93764-d946-4386-adf6-c1bfa08f8077 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:3f09cb75-1897-46b2-adf8-dbef304165b2 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:a414828c-e424-4a64-a907-3944fe008243 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:fb212ace-14eb-4b42-acc4-d7f71b518429 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:d813d5e4-77ad-4e4b-8e8a-4bc8d78ab1fe phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11175294 uuid:2b6b027e-18c0-4e3a-b854-acc6b009867f phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:0cfe39df-a87e-47f4-b71e-5b3edeed4e8e phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:19456a79-5cbf-4287-82f8-0b8c9ecfb550 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:372b3275-70e8-420f-8a75-87782123f835 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:34d88855-f4f5-4ede-9ef7-f3f8a572d4ce phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:fcbce235-a3c9-427d-983c-1b422013ff36 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:792e2585-bbbe-4295-846e-bcc5cbca0c0e phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:abbab869-c8ce-45e6-9365-e6f069dee9f5 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:d2b2155f-0c87-4adf-85f9-4322a28d4fa2 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:24492b24-e57b-414c-a8ac-89a8f9737f94 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:61ac217b-2a42-49ba-96df-b8a4b9f64f60 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:ab696602-e69c-4a0e-88ba-ff5839b371c3 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:9ba92502-a97e-4bd3-80aa-845b75bb7637 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11175294 uuid:bfa73eb1-5aa6-4953-a501-cba45219f784 phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:11175294 uuid:712f23c6-3fe2-46d7-842e-ec9f503b6f7f phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11175294 uuid:78d1b9ba-622f-4112-a136-3879d9fbf03e phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:a43fe065-7a18-443e-a323-877d50d5196c phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:0e34db1a-aec0-42d3-bc4f-7d2a43d212d3 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10756346 uuid:b8a93ac2-ca80-4461-b2e1-82ed5abc25cc phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:8f85fac1-7c1c-4dfa-b363-d369c150cb50 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:c9d5f94c-3ca1-428a-9a76-8fb2fbeea0cd phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:0bd40e24-b583-4efc-9244-e0f82a108c50 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:65c038e6-051b-4a0e-8cf5-1d313bd87c0e phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:27813f4b-f6e6-4e0e-b6e9-114fb80fdc6b phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:4778bc94-3c60-4e78-9718-430e2f7ec6ad phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:dd1f71a8-9b26-4ef6-81bc-97ca23d12a97 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:678600b5-c5c5-494c-9d91-a9d9dc7d0701 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:f8fb2e8e-8c69-4c08-b219-4a6f3b507245 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:d06b6156-214d-4a88-80b8-c78443a9cf05 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:58fe2b25-cd4a-4523-b18e-5ff3bfd606bd phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:b82630b3-4d5e-4728-9bc7-662a1edff643 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:24103804-2bbf-44cf-bbe5-39480816c026 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:983d2a37-6f08-47b2-bba5-18c8ad2ca0fc phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:82e4dbfd-830d-4469-ac59-5b091be5d105 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:b2edfc55-3e2c-42ef-ac93-ebf41b38f567 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10756346 uuid:5894cc7a-827e-4f56-8720-95a0bf3e3eb4 phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:32869ba8-12bc-4beb-a6ba-64d966b99b0b phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10756346 uuid:9f00fd85-5029-43b1-a205-84ddc10d79a1 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f25ab45d-3963-4df3-ade1-6253d4546ef1 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:055e9364-b315-4a79-9319-315df4a34d6f phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6b621e01-20ae-4f40-ae8b-1e869e7639d2 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f6c7373e-4dd0-41ff-889b-2652a51ce7bd phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4380bd7b-8a51-4110-b4bd-789faba973fe phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:17d72b52-1b6a-4ac5-970b-8f84e7db0444 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4058a7f1-ab2b-4b27-bba1-20b1be94fcfa phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b9ec66d5-d895-4851-8bc5-1944de5bf34e phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ae3ac326-7bfd-4d3f-a460-cc7e303323c4 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:625deb25-782b-4138-ab87-2629b399c7c8 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:08735401-f886-4575-bb50-76997ef4f6fc phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6779df40-56b4-4c72-b76b-5e5587e7513f phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:9ddc9b34-f0cd-476b-a5a8-6c2636a9b64d phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:69dc0461-9ab3-4663-a9cb-45f9aaaab0cf phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:7d31cbb8-d82e-4ca4-949c-0c0642090629 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1800b19e-25a4-4322-b5b6-d44daf42f188 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:12f9822b-f329-47b2-bc9c-a765883222fb phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:155b95bc-13ce-49e1-b7eb-9a92fde52e0a phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0b9077dd-fcd8-4e97-a4f2-664cab414f71 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1d59baaf-c40c-4533-b6b3-f88c5dbe9f7d phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:9dc977d1-bd15-499a-94b4-f86a5e6ce8d0 phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:8f1ebaa8-b063-42d0-a8a6-bbb28a466d5e phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:58c592f9-4cf3-4e10-8dad-c4c9e174c59d phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:619d4c7b-e5e8-4389-8842-632c1cfb4177 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:cccce8a3-369b-4b21-b863-6d2ca1252852 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:fc494f41-bb15-471e-b538-491c61d855eb phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:c942ac40-4076-479e-9863-1c77946017d8 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:9774a49e-db76-49ce-90fc-8bce157e43b0 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:41d876d6-f833-40b3-89fb-abc5af49473c phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:9ac58109-2d54-48dc-865c-32db8100aa85 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:cc4463db-365d-4003-aa12-ba02c006a63c phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:0f7a297f-7995-423e-979f-15f8b8cb0e54 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:6fb5cca2-044b-460e-a6f4-d4a9da4ed56a phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:87421d00-7c8b-48fe-9dbb-277a6a4e2ba2 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:773a6289-ff4c-4abb-9362-1f8c36892480 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:4bd0afb8-b49e-49e7-9c86-44390d4b90cf phenopacket.store:FBN1.PMID_12446365_BM biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:4ce1cd61-2333-4b38-842a-1b5dd745604c phenopacket.store:FBN1.PMID_12446365_BM biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:c43d823e-fdad-4b86-8717-78a762986879 phenopacket.store:FBN1.PMID_12446365_BM biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:4031bc04-6218-4de0-b899-c8f9e6399bea phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c8849ab7-49a3-41e7-8267-4da62901ee4f phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f93eb33a-ae23-4f05-a975-35af267e8dcc phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:7d7058f4-39dc-4419-a54d-899566804d94 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:030a8775-cf94-407f-8f1d-aaea43ebca48 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:d98e9828-4417-439e-b68a-48a4777597bd phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:97daa400-6f8a-4301-b44f-f6d56d86210e phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:6cc4f8a7-78c6-4bb7-8b7b-c1b3bd07ccd1 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:132ffc79-bfd2-4a18-b2ef-a72ccb47f80c phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bb84bf45-2fe6-4df0-a921-49de4dd17c51 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a304f203-7e55-4937-a341-c528bd62dbeb phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c7e6b61d-15ac-46d8-a524-dafe620f1179 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d386bcb8-c5a4-4be2-81cd-a2d8884001df phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5459dc48-5402-4e8b-bb8f-ac289a3f405c phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:00a7db6c-4604-4d37-a425-091a7256b315 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:6879f310-88d5-43c7-8e90-6122c77bbe13 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:55eeed6a-6d3a-40e3-8fc8-1169cdc404d4 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7c3ad3e8-8fe4-42d4-aa99-0e4edb47de5d phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:11c2c0f8-2046-471a-b217-db5a70a04367 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ad2ead72-8c56-42d0-bc1a-4c6d33ab44fc phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:152e960b-ba1d-4453-b3e9-42395251f8ec phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dae0bba4-d317-43a0-b62e-07f0cfb38d7e phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9659febe-fedd-4186-b08c-3e9c971e128e phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0f906683-d291-46fc-92c5-ef36b335f377 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4727f6c9-b145-4ea7-9d10-55cc7f7b092c phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:be797345-af29-4440-b85d-dce588d2288a phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5e090e55-2acf-4a5d-a983-516682d773e6 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:296d65e9-0cf2-4620-a5fd-a2e9f78bfcbb phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:56483e0e-2cdb-40cf-928d-c1bbdb094782 phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:fd4e1ce5-a1e0-4cc4-b6e9-9d27458ed212 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2698b49f-f829-4685-8ad7-21ef25458253 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e3fe4e91-eb0b-49a0-a80e-a5b0aef2a60e phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:cfbcece1-a722-4c37-9279-30b6873a5bc9 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e34d9479-e9b0-4242-b7b0-eec5846b0fca phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:adc22d8d-9dd0-406e-ae50-c7fa9483c2ae phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:64db4970-fa4b-4833-af00-d80aa2f70b43 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4821a591-5c1c-4728-bdcd-ee24ed4928be phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b4c1683a-deff-4df3-8e02-592b925aaf41 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1f9f352c-2621-4786-b719-305e7fd61af6 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:4eb2c77f-199c-4cc9-9f21-d6c68d4c6720 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:1e7d2dd6-8259-4940-bfd4-e7c3aa20b989 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8f8a1b5f-02b2-440a-99ce-9d70a8ac9aab phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dbb15d6d-9650-48fb-acd3-dffd76a2e182 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:22693d8d-77fc-4989-81d1-d9cbccf27fda phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4c6f5726-82d7-40ca-bc9a-10575b5f8001 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f9865099-2a87-40b3-8a7d-ed5b460fb544 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fa0aa1fd-e268-41ac-8db0-a59c4289a4fd phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:23f09aba-5b3a-4995-9042-e41fa4ec86f6 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:bb73e144-7053-4969-ae6e-536e4ebbb9a3 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ce009877-52fb-4b8e-bd1f-f2c68b271109 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9cdb886a-4414-4543-a019-9ccbc21ed926 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:233dd047-9b4d-4067-8476-ef2f6df7fabf phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dc801fe9-d676-4586-af0a-d3a52376b586 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:138c5f59-60ff-4e58-b84c-3d9c6ea157c0 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ffd42c39-1fbe-4624-ab79-aad049cfa463 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:4be19259-1821-4157-90e7-4cda82f93b16 phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:a8459fef-3198-4043-a372-8ebf287596c2 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:3aaad2fb-2a26-4be2-994c-963d9fd66b39 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e5a3a00b-6b3d-495d-95c0-bda636befdc3 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:e854db22-a63d-4597-bf8c-8f9e746088d1 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a83ab272-d553-44ec-9f60-fe85f2746748 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:0f80e7bd-1fe2-414c-b1cf-1c2c62da10fb phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:9611d025-e92b-458b-b0b0-288a46defdd2 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:b42f15ff-2b8c-47cf-96e6-46826828e75f phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:654e35b7-21d4-4420-9b83-bc32175cf6bf phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a83de2ff-5052-432c-9a37-03fd2c5eae31 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:fe12d85a-7661-479e-bd1d-50dc9b748deb phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:51981330-078c-4513-8768-77840e1c08c2 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e5fc6555-a10a-425d-9f2d-6b02fe291804 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:507d21dd-a30c-402f-a846-2a54e1399aa9 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:4d651c89-f1c0-4447-af4d-1791ce480ab2 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:2cc630bd-418f-47b1-af71-42f4cc1bb981 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3e0cd95e-2eba-4df4-bd5e-13082b4a162e phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d39205b3-1b7b-4e7d-950e-f56f1472ad8f phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:0dc0b8d1-9450-47f8-b031-7a37bce37651 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ca25227a-e447-4c16-a56e-8a1a93cf6f58 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:fab6a91e-0f73-4ccc-9d9f-e2f6e1f8288a phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d1f8fc20-8a2f-4c75-a07f-0ed1f624a337 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c9e0d34a-7416-4d02-810b-397d71a65762 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:70f29854-c4fc-4805-af28-f74903a1a5b8 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8597beb0-b8b3-4c21-9743-d971ba61bbdb phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:457bf6b0-48dc-401f-8d51-8c080e0a081c phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:e3ec30f6-696e-49f0-aa0a-43f16d0193a0 phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:53c8933f-0389-498b-ac07-1ef36ff6660b phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:281c481b-0c54-4ba7-a189-6c470cfba54e phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:a55261a3-2a2e-4f59-b302-17d4bb1b42b0 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:17aba505-da4d-46e1-b9c6-4ab30114980f phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6a54bd64-7af6-4ace-8733-4ff2d335bb59 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4bdeeb8a-632f-4128-852c-01b10e6aa568 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:63bac678-ef2a-4ca9-9e44-67c37c6e7ae3 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ce7f69f8-f5c9-4da9-a88c-b231bed2d3b3 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:423de452-8ad6-40a9-ad51-e1cf0db2fd33 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c2702abf-840b-454f-9db7-f047fcb7c978 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bc8fe579-c80b-42aa-99fc-b63e6312fbd3 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3fd570bf-c7be-4d41-9215-5fd26dec0d2d phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:343c319f-259a-46bd-8189-e54732b9aa8b phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e75911f9-588f-4656-8448-df9fd311cb01 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:76c5e18c-60b3-47d9-9847-bae80c2da500 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4ab07f09-4008-4c30-be2e-06e345f8f78e phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b4f72bf3-d788-492e-9ff6-bfea498f5a03 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:472d706c-3eae-45ea-b8ee-97327ae7c8ba phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ee0a6099-2d38-44cf-8f7d-931fa7581986 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:346bc4c6-331d-4d6c-a4d5-777e094f1f16 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:71b6159d-798c-4d09-9b0d-350c373eb042 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ffd6bd8e-7ba3-4306-bbc1-228488c1999f phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:42dd31e1-bc65-464d-ba00-69975766d446 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:54bf849f-f2c0-4224-80cd-d8ac4d21f20b phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:5ebf47a8-b3f2-4ec7-92fc-9fb28692483a phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:013f3de1-33b7-40a3-a156-c859781284ad phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4341a368-3681-428f-ba0d-7c2b6e958483 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:6c443f57-8fe3-40f0-bfa9-c42c25f0c143 phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:d57e24b8-70fe-4ffb-9fe4-32b6868ebd68 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:2800a039-7e4f-47a5-8e48-8178cc5212c4 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:62a03fc5-55ef-4bec-ad53-6cc3eb25954c phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f74b77df-ae1d-49b9-86dd-4fb7d60cddcb phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0281c9cc-bbb4-4066-9886-268d2f629f23 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:b2393de7-a081-49aa-ae9a-0b8bb957760d phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:83253ec3-3ab1-4d43-b236-3c3656409297 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:135e6da3-6407-4c4e-847b-79ffdc05ba7c phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:f095af58-4460-42b4-8d6f-7aabbd9713e3 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:461c2c52-45cd-46b4-9bb8-53b4fc827569 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:92e336c6-2c00-4152-a4e7-d81d48ddf8c6 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:81c56359-5293-49ce-ba7b-151c3be6ffae phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:fee68503-f206-45fe-8216-c529620ed137 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:81ed13d9-fb62-4dd8-b5b3-e7fc0ce2d81b phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e02baf37-4f11-4316-a8e9-92aaa0b93f37 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:af047b7e-b682-41ef-8e88-0a1b556efec7 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:29342589-812f-4b69-a1b9-0ed5e4aabb02 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:20e0f8b4-c6bb-4551-a7f3-14409a7be158 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b58558e7-c1cb-4df1-8fd5-5bf6066508e2 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:478425c4-5fd5-4198-960b-14a89b189cb1 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f3cb6662-d412-4f15-aa71-d4eb41bd8ac9 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8815a0a7-498d-478d-aaf1-c653c0977b19 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:549c29ae-64cf-437c-9b72-8cc7a610bcff phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:eeb7e542-5fd4-4e52-9cda-1f7035ef5fbe phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:4fcd7510-ca50-42b8-a949-defe9220b2b3 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:79a9ac3d-85d3-4b80-855e-9cc820f01b30 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:e20483b8-40d7-4a9a-a0d9-5d9224f26537 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:141e6838-de3d-4f12-89ae-b0dedad0f37d phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:aaab2235-ca19-4177-803a-213584f04b60 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:01c9484d-7e62-403e-bc27-1116619af03e phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f9e430fb-86bb-4fac-8544-91fa34778727 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:b24c7734-977c-4fe0-9447-148f7cf8db4e phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:6ae02e85-bcc6-4739-8dc2-640650314214 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f222b934-0243-4ee7-963a-96b8f5114cdf phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:fd980017-d5c1-4fa9-aa7d-0a0392685498 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:9a39712a-58b9-46a3-ad6a-bf2372d69653 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:5b2856f6-b76f-4103-a04c-bc11122441be phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:cbd64474-84b9-44f8-9691-b44284e4ac12 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f41f01b3-2a5c-4821-8349-b487d9cb541c phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:88743f72-3076-4821-a3f7-477976eabb74 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:dec528e1-b583-450f-827a-f3c688b45ab7 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:61862ca3-793c-4cf1-8347-7105011ef0c9 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:33576469 uuid:38f0bdd4-ea13-4edf-8a56-9e089c84f253 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:d4a5792d-6035-43c0-84b8-6b9ac6d76702 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:c6afc91f-f7eb-4db8-88e9-61bcbdb5437a phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33576469 uuid:992e7516-dafd-4f6d-9efc-63c17fa8c57f phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:6d31a7d0-8f06-42ab-979a-68dc23d8f0b6 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:aa7924ff-3c19-4e40-a853-515f17ce12ac phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:da366a8a-0cce-488f-86df-d5ed543940e6 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:ca9b30b1-a55a-48e1-9afe-f1e66c97175b phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:e95903b8-eb7d-4865-808c-8132a9b2b687 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:9603f35e-49a1-4e40-9a16-7312dd9fdf27 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:f786fd12-fa42-4f5b-94f0-2ec014b5f710 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:2a6f12f6-af35-4ab6-97cf-3b60ee6e91d0 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:c0c8aded-2ac8-4a77-9928-40d383ecec10 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:3312a793-2aef-47ef-bfb7-58d28af865a7 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:a038f21e-25ff-40b1-a350-f19a4be5ecf7 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:a126a091-8384-40fe-8e7c-75055c51ee13 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33576469 uuid:09bbfc2c-2424-4d52-8dd2-098d8e8d5b47 phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:33576469 uuid:41a7c5a3-04c1-4c13-b6cd-0a0f8a7a222c phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33576469 uuid:4687b65a-49dc-4605-a22c-4266dfa33389 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:763615cd-b928-4722-aa3a-05b0486b812c phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:58f828dc-c244-4edc-888d-e6c15ada74b4 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:ca3df3fb-9e3e-4992-ba64-7c7e40dc34e3 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:fc057766-8ac2-4b70-aaf3-542a97cee660 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12446365 uuid:881ff131-eb2d-4e35-a724-95a96eaf3352 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:428b78cf-3587-454d-a890-7edae4495f65 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:03ba8aec-0913-4a4a-a24a-4302db0055e6 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:09ba070a-2c87-4c7a-b961-92ed870a6b71 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:108febfb-756e-4114-a6aa-7ddbeda55e93 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:f6ef752d-d2a1-4109-85f9-16f7e9555ae7 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:22086d2e-8588-43ff-8da5-d4d6ea6eebd5 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:b2269da8-c38c-468a-8eb2-c6f4076c2c1d phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:f0afc711-11d9-4555-a7d0-9c90852025fd phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:32f60182-fde3-42bd-8606-3e1e9f77cd3f phenopacket.store:FBN1.PMID_12446365_VW biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12446365 uuid:4d8dcc22-ca47-46a6-aa2c-727266f9a0a4 phenopacket.store:FBN1.PMID_12446365_VW biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:0fe15700-e0e2-40e8-84e8-3f6571a9693e phenopacket.store:FBN1.PMID_12446365_VW biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12446365 uuid:4ee24838-5ae2-4d18-8884-1dc848fc52d1 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:26f7299d-5902-488a-8bfa-8a351b279071 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ac36261e-5a94-42b4-b386-ca8ed3359f1f phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:20cffa59-cd02-4e98-9597-6bcc9c245a1e phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:ce212fa2-394d-454c-9dae-353820a75d8e phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:04179910-3373-40fc-8e52-d1ac09917d27 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a3a28d97-b7bf-4971-90e9-30280c00ee6d phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d747e6dd-118a-4f9b-a19b-b736eee9dcc8 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:55d4a13d-6c8a-4de7-ad4a-b0eb044dc9f7 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b3282c04-8fdb-4f91-8861-c685a53802a8 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:271ef282-5a54-4fce-8603-c7f6fb670a65 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d1bcd5eb-8328-4041-aa19-ee8aa0cee853 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:411a7269-58c8-43ff-882d-4fd91e79192c phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9421e29b-5d6c-4501-b660-13c784741bb1 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1facad88-0a3f-4586-8d32-46d335e78520 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:330c9764-7b68-45fa-a4a3-050efb56dc76 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:252441b4-0116-476c-bfdf-9a155ffd0659 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:feef20ac-efcc-47d0-936a-4689ce36ea8f phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:27afd62d-db2b-4100-8821-f3ee1337b98b phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:b67e0ae1-4503-4127-9b9d-6130bb6ffad5 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cbaf0373-b107-4cde-a95a-7d694138a09c phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e392c3ea-9f19-4018-97d1-9814c1fb5208 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:7850aa70-8ce0-48fc-81a5-5292b3260b61 phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:8cb38aa4-a58b-4183-b33c-ebfe53110a2d phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:1d7ff95b-4c9d-478d-b1e1-4eed8f05f948 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:47e21de7-accc-4a4a-894d-0ff1f3941b8e phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ac62553d-90d8-43c0-8110-784c91a46302 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e81ebfea-e042-4cc8-be4e-ef327a7d7dfd phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:5003a51e-e987-4ae0-bac5-40408e9c60df phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bd7d4afe-f273-4711-bf27-9ae390da00e4 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c4d5fb5b-51dc-4430-9be6-d13de1e17e3c phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:82245d29-1965-43b2-9f93-3c27cddbf0fb phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6fe510ce-0e7d-4941-8663-262b7f572ba4 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:e5d20d6f-8bc4-42da-96f9-152a5cae498e phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:67f18cea-5307-4408-8fc8-66b931101e1c phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1da4b1ee-f894-45ba-9fe7-da53eb4b583f phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:eb04ad51-b9f6-4351-b2db-c9daf47f5cf2 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1ce04754-d029-4a23-a467-8d025766718e phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:a605143c-205c-4037-98f3-a6cedecdfb2a phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1c7f0e0b-c2ba-4750-b3eb-16718d4cf9ce phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0a5c967f-f2a6-448d-8b3e-1714d7312f9b phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:fd87118c-d130-4446-b195-0b18115f902a phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:dcbd8e06-d361-4436-8a08-04e4df8a2ba9 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:cb70436a-2a87-4e54-8141-6df4f46ed4b5 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:12e9a704-03c0-44cd-b033-1ebf5d80264e phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ef7a131e-5ebc-4520-9a11-f1c61720b31a phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:aceed003-31ef-4588-9427-9befa696e7af phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ce4f8bd8-e451-45ed-b190-b7ba6c181370 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f64f5471-9af2-408c-ace2-0ab2ec810269 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3ac416cc-2ba7-4523-91cc-5f39d11f3ebf phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:dfa088da-0d30-464c-a4da-4419fd80ced6 phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:d0dfeb1a-c2df-4eb8-9542-afa4889a7d47 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:1266aa1c-f956-4d4b-9a7e-4c87427a0f2b phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:7320c21b-4b25-45ab-a022-aaf0b6c43769 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:b6257b88-7651-4fd0-9963-a85114230249 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8188302 uuid:a6867f7c-07bc-4655-8f93-8ac65123c343 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:27a13d60-dda1-4315-a45b-978e9ec416cb phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:08db213a-3ac8-4f78-9eee-ebefd21d5547 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:55ee1750-ea57-4e44-8058-bdc63f5539d8 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:81422d75-f13d-4d87-bf87-ca0babf6c68c phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:3bacf7e6-a927-4db8-9042-97a1af1fa48e phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:c6eb24c8-3c7b-47e2-a91e-a34d09c37e31 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:b55c884b-22a2-4fe3-b66c-c29cc903d089 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:2cb00050-efc7-47b1-aee4-3f014c06b2e9 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:e6626a41-b41d-4c28-8928-6d2f2800cec0 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8188302 uuid:235712c7-b6f5-4b14-9a08-03cd70da4393 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:d9741a32-a94c-47bd-bfb7-676d36b9610d phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8188302 uuid:951331b3-bb1b-4c82-8e44-7633eb62c70c phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:9da92031-91ec-4e4e-a0c0-6d015b6d8013 phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:ca8ce24c-c204-4146-a40a-503cb9484cb4 phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31527767 uuid:d28383d4-22bf-403d-8976-5df163f6a34d phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:9f098bf8-bbca-4a08-87f1-82230b62afe2 phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31527767 uuid:bef2c0e1-3e7b-4d9b-b976-3d098cd45f87 phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:7162e562-c9e7-407f-b713-27ebce215b64 phenopacket.store:FBN1.PMID_31527767_II_5 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31527767 uuid:c864a38f-c2cd-45a6-80d8-84df67d835b6 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:53c57197-248a-463a-988e-1726cbc245fe phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:06e86b04-0d78-46d9-8df3-c3903e725f28 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f24a4be4-dcd8-4ef7-abd7-23b690f9ffcf phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:19c24649-345d-418d-b0c2-f0f2d63d3ce5 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:c77f2e4a-53f5-4390-8ac6-196acb81527e phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:f7040ef6-01f0-444f-9e5d-740e564c8855 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:fe1df2a6-11c9-4273-8361-df6c4a41718e phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2365abf1-16a9-496c-9602-2da6ab89d58d phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cdd2c452-331a-4738-ade9-db49ce35dede phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:15d211bd-0451-4336-8117-4dd472e4f546 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:2a856724-746b-4b85-94c3-abf48a4cc863 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:78628eb8-3347-4f12-82b0-a5b3ad811915 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:70c24a4c-b311-4a98-a2ed-6d474f8ca2ea phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d01ef21b-3c0c-441c-81cc-85d972e56304 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:00a620d7-d1ab-4b67-8862-8646e1cb6a3b phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:8c04a495-64e6-4d25-ad3a-014a02f68732 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:1b62024e-ccd4-429a-8fd3-937d7c8e798c phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:3ca91f55-f107-4c2c-a4e7-73b1c1e8d55e phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7f133f87-df30-401f-97f1-666e14ae2f17 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:d4deb467-23aa-4655-858a-6cf469a8f3eb phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5eba2779-c4a8-4d23-83fe-4b3acc3a22c6 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:93497285-4fcc-4f6a-ae64-c43b5cafd840 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5851381f-4941-4440-b36d-84c115ef380e phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:dc573ae4-cfc7-4ea9-8e07-93916bc5e6a3 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e03f6f2d-4aeb-47b0-8fe9-cb0d44710d69 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:9bef46a8-f829-4ad7-b492-ce020295d4a4 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:9a402c29-407d-4a98-b52d-e4107b2cf5e7 phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:9f158305-0109-4f76-a440-f67af8782a3d phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:6123cbb8-b06b-43b2-b59b-714ce40ce55e phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cd005bda-0659-4e13-9c3a-ed4b67215bef phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:89051285-d74b-4676-bcc1-0e26a219a9fd phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:ab36b109-d55c-454a-9b8d-3971af40d7f2 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:9090e928-fdb2-4590-b8cf-b85ef9d99ec9 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:7b8793a2-1f70-4164-8b0d-e56478df60c5 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bd2dac4a-bc41-4906-85f4-092bf7618c53 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:0176dbc9-48d4-492e-b55e-2ed01e1c5ef3 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:45e2dcc8-c1a3-4ca8-b2e2-3f00c51abfef phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:617d4651-085e-4feb-bfcf-c0122f4b9a05 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f4f65790-5d60-4bfb-84ad-0db20b384301 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:3ba7a997-5586-4aea-8d58-eaf90ac7bad7 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c873c11b-854b-4ce3-8eb0-d105977d2334 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d5eccf5b-540a-4b09-9303-c376136c4991 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:34b20dd3-244f-4e67-bc22-139c1f7a7e5f phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:f1a40755-df3c-43fc-81f9-f52c8d4a8488 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:d6bb4e4a-b02f-4e11-8ff5-15db018fe80d phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:75fd2aa3-9793-47d1-b238-5276d7581cbb phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c7f7e063-c606-4157-b9d7-2779b829f932 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:6bec606d-dd7b-4e82-97bf-f2464b632bc0 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:66721cb7-0a7a-4c99-86f9-b2bf3cf6b917 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:2d3899e1-9fe4-4a8a-95f3-912ba194c869 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:caee35dd-a7c4-4fc5-baa7-960952dc7251 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:ff174ed4-ee15-4d27-9d10-1203cbb8eba3 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:01070c90-2dbd-4a90-8148-fcf4075d807b phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:e86fd79c-9178-414a-9102-6b8e52709a26 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_disease OMIM:614185 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:7404367c-5709-4cf1-8133-c6023260d406 phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:dd22bd29-e308-4a34-8f33-0e50e7f66844 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:c33df146-6798-41cf-9983-eb6f040ba0b7 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:f4ec65ac-b37c-4ed4-a454-b7b6b8bb88b9 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:87ed1cc7-4abf-41f9-90f0-ba30752c1b9a phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:fa3f8086-2341-434e-9a79-1b0ade6d6738 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:938f6ad5-f8e3-4039-85f0-7cf28ce8296d phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:b33be862-d7c7-4105-b26f-58ad258a3607 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:024f2c9e-f045-4778-bca5-38d8845e5617 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:fb2dc878-68b2-46ab-837d-b7c8491c91a8 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:da51bbc7-446c-4a16-b120-57bf4d7a1448 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:4cb60747-0a74-4b09-b59a-edfee1f43834 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:92615055-b891-4ef0-a99c-cc916df6f362 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:f719a0e9-b456-4924-a459-7b66f67adfec phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:2002993e-fa6e-4c2c-9d05-0e9863c4cf1b phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:9e4aa06c-187f-47d1-a32b-c45c11d8abfb phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:9dee9996-76c3-4c60-b3c4-b4cd28f1315d phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:32404357 uuid:72ade97a-7d28-4a3e-b7e5-ef91f975e44a phenopacket.store:FBN1.PMID_32404357_II_3 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:bd215b84-724e-43f1-ae10-821543fcef04 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:4accc995-a22f-4f96-8d4a-e384db4ebbf5 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:164e12ed-458f-4f1f-adfe-dc34b35aa4cf phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bca28e51-2246-470c-9b50-e8a39b7ac590 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c63be40e-d1ee-436b-83a0-64eb5a2bf632 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:bd2d3c5f-354b-4b93-9726-fb3d39143a73 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:903a32f6-aae8-4783-b8e7-1b326a31c37a phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:c1e776d0-d906-4893-96e3-2464b8b728bd phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:d11ff5b4-4963-41bf-950d-fa755a9b56f6 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0031027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21683322 uuid:cc7d2892-ea6f-4b78-bd8c-98020212f3fc phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0008848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1f9f24b2-9af5-429a-aece-7a6737ce8fcf phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0003502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:39104c56-9f43-4a65-ac66-bc2b5b901eb7 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8ec62248-0381-4168-aae5-55d3d224c87c phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:cd043e58-7ac8-4e77-a3fd-c783f1f98e2b phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:1aae9aeb-0a75-4aa9-a4ae-1237a61b1bbe phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:c25b43c4-bde0-4a33-9be2-ce9618116000 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:b32afa9b-4377-463e-aa85-2a33869505d9 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0010446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:8b0a8dff-0193-4b60-9a9a-9b7b1a6f6b4d phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:14d5796f-d659-4163-83f1-7a6470062854 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:0d1e2128-79f9-4856-86d9-9c7dd04a980b phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21683322 uuid:39313af3-c669-4fd3-9741-d9f2eeca5ca4 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_disease OMIM:102370 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:1b71a4f8-0eb8-493f-ac42-fbe3f6fe6550 phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21683322 uuid:0a38413a-6991-4388-8f8e-d9db3c8c94f8 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:bf9c555e-2a73-41b6-98eb-a19699372a99 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:52b55cfa-a90e-40d6-b879-2c806d6df459 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:854c3d0e-3d9b-4536-8adf-93e379c50c23 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:366914ee-6d48-4fdd-a315-913db300cccc phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:2698e145-5563-447e-94da-09da18a7ca3e phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a0bbb045-1232-4545-8edf-1204c4e512a4 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:ac11ad1d-6ca2-4bc3-9738-efd94b2a64bc phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:455c71c1-5ebe-4037-abe1-6dda79b753a2 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12203992 uuid:a10684e9-845f-4865-bc8e-1b16471803a0 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:59ec6079-f663-4c05-a8fb-3ec93f0a1077 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5f2b26a5-7f49-4166-a52e-80b08f1f673a phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:7ee58455-59cd-4eb3-9eef-1a07af23356a phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:190b056b-bf2c-4425-ad59-89f91d562ff2 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a3cf8137-93c7-4434-9aa9-7268e4f8af3d phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c3d1ba68-ba5a-4650-bc67-80cec212b6d7 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0100719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:692557ee-80d0-4256-99af-25607d2dfd0e phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5e5634b9-87db-4d29-972d-074f2a98b399 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:66614a4a-d281-49a1-9bee-aa0955a797f6 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:5c15ab0f-9d8a-44a9-8f46-1f4965db6d64 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:f84eb85a-5f4a-4485-9f98-7cd4d54c5735 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:80229b4e-751b-456a-b613-dcbd65bf479f phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:e9794fc9-c2aa-4a67-b963-313b94512dd3 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:cfb38980-d8d2-4ade-ac21-76a5671a8668 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:c99a76e2-f8fd-4e85-8253-2dfdba126aab phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12203992 uuid:a3112e5b-ac4f-4994-8cd7-5dcea61ed22e phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_disease OMIM:154700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:af4dbd4f-758c-40b5-b702-93e223a96ca6 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12203992 uuid:e1b7cdb0-4470-439c-b4fa-ae364a4e2af2 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:c2ab8d4b-ea6e-4d90-8c74-7a4170e69106 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:0bec4260-0440-4566-b9fc-792f29e4f0f1 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:282b1a43-e001-4eb1-b9fc-6b5874410a56 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:c80abfcb-969c-4994-a98f-16ef5ef6e408 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0030961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32404357 uuid:80f25dcf-3df8-4c8f-b778-976005b3f7af phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:3a327e23-e583-4ad9-a199-027452e00675 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:2bb13151-8c8d-418f-ad58-2b7a887f48cb phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:fcc911ce-9beb-4fe6-bd1d-2d4c62e0c5aa phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:c2b6d261-9c29-4755-b844-fd76a465118c phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:e31508c8-e11f-4570-b556-06064b25d8ec phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:4d48097a-3dde-4a52-b26a-61ba22bebb86 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:1f752628-315b-4aa4-a63c-71412034ea9d phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:de481aab-522d-4806-bb4e-cdb1ae625689 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:5266657b-0b44-46b5-90a2-420df91ceef6 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:7949ec33-12f3-41b0-a318-9999d1f09e53 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32404357 uuid:a1b3cc1f-49c0-42b7-ba68-4917ff24c092 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_disease OMIM:129600 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:32404357 uuid:4359fc50-3860-49b7-bf25-8ebee5c6cd91 phenopacket.store:FBN1.PMID_32404357_II_1 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32404357 uuid:e7a2ebae-64d0-4fa5-abc1-44fd13314bab phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0030053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:554eba9d-1625-49e6-8c43-88b61cb5b54f phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:132b147a-821e-4852-842b-b72395de1d0d phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:70931138-dd49-4630-97e8-5791b97fcae0 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:8be20034-bc0e-4e65-80d2-30d49b2de941 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0033482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:48b6043f-cf48-4538-a36b-20d0e535eb2b phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20375004 uuid:c9b6bc29-4281-4bbe-a3f1-9c9a62f97532 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:cf5345d9-a8c2-42df-b126-6c977f80ff31 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:1cf9dde9-f28b-4e18-aac0-0db1f74fe117 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:c8755acb-4fef-47d2-b5a0-c41217348d40 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0012181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:d8db892c-b6fd-48d5-9b3f-fd51d29728b3 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:4687b489-7cc0-4c1d-9af2-9ffe16761f72 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:a7b9158b-e1a2-4e48-b599-cb16957aa69a phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:7c0dcd61-c9d2-418f-8568-3ac8f2a0d030 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:593c3bef-1edb-4745-933c-d932b3f70724 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:0a98741a-1393-4b70-b5e0-94b9f791da19 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20375004 uuid:480cba3b-e76b-49b1-a8aa-13eac0a524fe phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_disease OMIM:184900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:a0b0680c-3796-4130-b813-a6855eeca1c6 phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:has_gene HGNC:3603 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20375004 uuid:f4610a6a-3176-46d9-a1b8-50f6b7b346cb phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:ae37ff54-79b8-4cab-9da9-9212f44654f9 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:67760c8f-0b8c-48e3-8c9e-2cb5a7fe6057 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:f505fbc0-8180-4ce9-a72b-5cabc03f270d phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:736be6ac-58c8-4326-a187-6ef2a6385c56 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:fe15f295-c00d-4157-81eb-52a17d41715e phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:5128fb3a-6df5-4157-be0c-3278fd192de4 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:c42159c5-692a-4540-8430-489706bbe068 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:c373e609-085e-4e5f-8a1f-b4852787c494 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:e7c93612-4cb1-462f-968f-65a90edecda3 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:638a17d4-e53d-4817-b87e-9d1506987833 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:7c431cd1-e4ed-4ed4-9eb2-3c7fe6b5c521 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:7e392682-fe51-4d06-9502-130f94384328 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:e280449f-d0c4-4c25-9da2-eeb59c09a385 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:56ebcd1b-eab0-4fce-99ff-e662ed1f1241 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:ca81b593-178d-4d07-88cb-6fac0bdce8a5 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:588d0b4a-bb6f-41d6-a718-84c61e7fb156 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:0a566e84-6d84-4b31-8b79-0863f827e55e phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11754102 uuid:91b867d6-902f-418f-addb-54f4340d1069 phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11754102 uuid:2b62851d-5123-4a63-abcc-f9710a477b0f phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:5f4ec992-c2a7-4807-a646-462d6f7ade48 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:25290293-8c42-4b72-809e-80d060dcb2b6 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:fe26b63a-2351-4b88-bdad-ea6d36d00903 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:2eac2a8c-e9a7-44c9-8e70-42370fa313f4 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:ca0b6c0a-dc11-4fda-8cea-f70296f242c4 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:7d00ec04-387d-4055-99a8-1a8280db30ea phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:04e0d8f8-15fe-4492-a603-3005f70752f8 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:fb7f239d-822f-44cb-a40b-5f041172a64a phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:468a035d-b8f3-4337-bc17-f0f3614e0fac phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:7e963263-2686-441a-869c-e920712d9a1f phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:bb643529-7bef-4e25-9f26-78fdecf1e984 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:82c5b155-3f3c-4b6c-a5e7-e6bfae8ef69f phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:7b957eb8-65fa-4264-9256-e630741e036e phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:3cc684c4-f43d-4d95-bc0d-ea6abfb0e4b8 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:bad7882b-9a5c-4e3f-9341-2d87c547fd4c phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:3e6c3ad0-77d3-4039-b366-9dbddbcb2b5e phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:56f84b8d-67ad-4fdd-9bda-a46fbbca0c42 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10797416 uuid:5a233292-4648-4b40-b24f-66640e23bec9 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10797416 uuid:97410a08-286e-4940-b7a8-92a5f11e85f8 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8900230 uuid:f0ced054-6ac1-410b-b751-6aa5024db482 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8900230 uuid:80e9059e-f05d-4610-8764-9923d8b08243 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8900230 uuid:d38295be-4fce-4ab4-95bd-91ee3723885d phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8900230 uuid:46621dfe-43fa-4211-99f9-f3512e3df4ed phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8900230 uuid:e6086a07-25eb-4da3-9618-564e8b432d84 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8900230 uuid:b22de7c1-85d5-48b4-a7fc-bf00c35f95e2 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:f2fa1a70-bac1-4fbf-babd-f9b21d6fa1c8 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:4e6805c2-8be7-4817-a09f-0983a2c4c1dc phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:ead7deee-93cf-4dfb-832c-6fcd896428d7 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:7b803e6c-738f-46b7-933b-01eb23f30eac phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:b60784c7-81db-4f78-9d99-82013602a253 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:a6f5000f-87b0-485d-9ecf-1cf3145e8b28 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:381dc5b0-1312-4b14-b9c0-cdb9b1e84782 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:a2d779d9-d31d-47d5-9127-d7fa425868a3 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:3a0dbb2e-b961-4818-93c3-2cfbb79ac263 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:8fa4ec79-2ac5-45fb-b34c-45fa000b2457 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8900230 uuid:6cc7aeaa-023f-4808-9eea-70f533e55e00 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8900230 uuid:f5882401-2914-44b5-bfc8-a66fe2720b98 phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8900230 uuid:6d894d14-4e98-4c90-892e-63f051668a5f phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:70f06af8-5d76-4b31-8211-919132e1bbc6 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:a0b3b98e-a3e8-49c1-b0d1-ae4ba1f45268 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:2a70f869-1421-482a-9c0a-cff4dedf8a58 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:b35e26f5-2abf-4bf3-8c88-6cc50b7fcd9d phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:1a0fb13f-669e-4ecc-bb7d-fe337e450d62 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:3104f623-9a11-4e8c-b0ed-a62afd6e7d8d phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:c5320d12-3333-42d8-8ffa-bf12d7df1bae phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:284de407-b74a-42bf-a8d3-e90c6710dd0d phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:6a492362-b67b-451b-a2e5-4926cfeee2d1 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:2f8b6ee0-db4c-4f6f-bdab-c709e527b4ed phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:95b4f8e9-ecb3-491a-bd3d-4ff247a6047d phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:86ab900d-f93c-4ed3-98de-106011cfc9a1 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:64ccdc53-7a1f-4609-8d5a-93570f691c7c phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:b97711ba-1162-483e-94e0-b8c7e404cdde phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:cba22ed3-7aed-4f75-9ea4-c90b1d927b05 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:86fca7c4-a2b0-42c9-86ca-643c8208bb44 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:535b166c-0d74-4c7e-818a-c378e0eb981a phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9714438 uuid:3bb6f134-f0bd-4dea-9cf6-e47508c0ebe6 phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9714438 uuid:169a4fb8-4b5c-4680-9a31-bd97d0f44579 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:2cd36eb3-1aea-4f4e-883c-7946f32382c3 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:989f28fd-514f-4e28-b1be-f12c7e15018d phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:608fa478-b109-4371-b715-db0b6ccfa5ca phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:609a3f30-092d-46c4-88eb-48cbd4d5bb26 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:b599ea00-2a3e-4dbd-8a69-5e73f8b56388 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:304edbdf-9f2f-4d08-ba3e-f782ce32462a phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:191c9a17-d7f8-4085-ac4e-e3c027760219 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:7830292c-dcba-41b6-850f-3c4210ba2285 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:81684573-36d2-42ff-a4f5-7bbd887188ac phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:c087bc84-44d5-4cba-a4ff-8a6bd35e32fd phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:098c7440-1321-4466-8baf-12496dbb654a phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:80970be4-0b21-4bec-ad40-30bbec93b73a phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:43d1b285-9dde-454f-b970-dd5cc9ecc7b1 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:f0fc668c-1777-4418-bdd9-002b5082f62a phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:037a939c-cf94-4273-95c2-cb8e7eace9f5 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:bad271b4-5a41-454f-a9de-5ab4e6f3c9a8 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:dccc9bec-db81-4ef7-9256-2cb1557320d3 phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9714438 uuid:79048fa2-daec-4865-af36-5d6e70b3969f phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9714438 uuid:01c08dc6-4d2f-4101-af5e-2a5554ff98cc phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:3cecf4f8-1405-4653-bbc7-779d9b5fe9ac phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:4a0cdf3f-c5b7-4020-986b-ef544fbc540c phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:29e0f088-0af5-4421-8ee6-1493488d0be8 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:78f135a1-633e-47de-b0f0-ab6998e5d220 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:04881fd2-c7ff-4345-abbb-53ca938df60d phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:b6192179-f6fe-4dc2-b190-4f64e5ed3014 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11754102 uuid:aa1f5223-6bc5-4e73-a713-7daae0468361 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:0904ebe5-ede3-4b30-bf52-c07df6594827 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:f72fee9f-9bb1-4b6d-bfcd-aa1d6e1c4b11 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:ded99a87-4e1f-4538-9812-59d69c71f194 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:cb289d27-f504-4dd3-959a-0bc220c76ae1 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:75458034-b0e1-4496-a974-3bcb46636e8c phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:b9edcda8-5ef7-48dc-84eb-36494a27a36e phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:29bfd4dd-65c0-4241-9588-0472daa2b03b phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:619a2e79-2d63-4d72-bf6b-b7bb20f0f1db phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:fe01873c-0327-4c6a-a45d-3adcd6d78d1f phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11754102 uuid:b65d4121-49f9-469a-8a11-5ba557deae83 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11754102 uuid:911554d2-a04e-437d-aced-27f3b4c31604 phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11754102 uuid:b4e3f89d-1636-4139-a2bc-f7838cc54713 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30147916 uuid:41d28477-950a-4ed5-9ee2-f12696259157 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30147916 uuid:daa0c728-5e77-4eb0-ad02-4417ff92c5b3 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:f3e815fd-cdd6-4907-a3c0-9e607b684dfa phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:1c4348c0-5e61-482a-91cf-da1e67e7726b phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:42a89cea-a990-4d99-bb9b-ff30afdfe612 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:e783f9e1-9cd1-406c-89f4-5d49a755f525 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:c6cb6c87-4ea4-4dbf-9cde-57cc63e3f834 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:8587da4f-ba31-4287-ac25-09a802a0a0b7 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:f4fb1586-44f7-4292-8911-4c397fce168c phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:37148e9b-19dd-46e5-9191-46e980926aa3 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:c7f8dff3-f6d2-4614-ae6b-36ed583d5bd9 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:ba74b6b8-3743-4d9e-9a0c-107670698f23 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:3c79e24f-cfeb-4684-a002-fb0602f441be phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:ec85aeb9-cb51-4222-b9cc-0b98e40ae2d6 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:12c67a30-821c-4ff3-9f47-6cacac39260a phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:3784e5d7-a2a8-492d-b570-03c734788748 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30147916 uuid:34f68b23-e5ef-4659-82a2-6e951292c259 phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30147916 uuid:838e120d-8ca2-4726-a0c8-a127d5217f1e phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30147916 uuid:6bf2f979-01fb-4a77-aea9-b4050d04217b phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:fa3faae5-89ad-4729-952f-db066e089d8a phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:30cd93ff-deeb-41e4-b559-bde5d63a12be phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:fb756f3f-684f-4032-9e56-13833770b01a phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:a556886c-e841-461a-9923-29e35494519c phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:6bc42e7f-3595-4ae2-b4b9-c00972d5c208 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:da433b11-20a5-4c3e-ac28-a72821ebe96c phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:6dbe3a77-3629-4697-8ae9-e35acaee28f1 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:5af7a8ff-715d-44ce-a2f4-d3554c47771b phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:cd73e7c3-ade0-445b-9880-f34e07798fdc phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9106527 uuid:b24d87f6-3c97-4f6d-bf8b-a42e2b00ffcb phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:6f93337c-8611-47dc-9e8a-c96998435823 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:a4363fbd-b369-4cd6-86f6-22b196ee5e31 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:b50f7d73-953e-486a-a95c-019068289114 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:21a92e6a-827f-46dc-bfc3-4b20970ceedc phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:d42d6691-896c-467a-a5ff-8ddff8bf8443 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:bc74ce2c-a16e-4837-87f2-2ddee6e69553 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9106527 uuid:7850e818-3148-4061-a8e7-fbe28a145b69 phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9106527 uuid:0c127ad8-556e-4e40-86cc-8f24cc935b9d phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9106527 uuid:f42d87d7-5fb6-4279-a234-9a32f0f6de16 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:5677ee3f-2a7a-4443-be9c-bb24dd2ab74f phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:baf1db88-c340-4e05-99e7-551522d8df47 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:1dd1ed0e-b5d3-4f82-85bd-118dd11a7f02 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:dc76859c-281e-4a15-8618-f1d4544cf75f phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:8960c777-abc2-4826-8771-87b15313fda0 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:f47a034d-478b-46b1-b657-a4bd5fec343e phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:f3419e50-bba5-4444-880c-99028c54d98b phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:2814bf0b-caa9-4804-bcb4-17b57e76bfcb phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:1140030d-489e-4cbe-a4e7-2ef0a77d8bcd phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:f74901ed-1ec9-4501-aea2-c5eed85ae196 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:9f59a94c-1b30-45c3-a234-e1471c99f9ab phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:235ceae8-40e4-43aa-9225-fabcef14a62b phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:b71e5bcc-76dd-4437-8177-559999938697 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:7493032 uuid:d9bf54ae-ee94-432b-a732-1bfdd12ccb3d phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7493032 uuid:56fa60f4-c305-4163-877b-b6de853d9a45 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9199560 uuid:23800404-e4cb-4c8d-b64b-2200233e19cd phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9199560 uuid:f77751b7-b3ac-4d54-a446-3a52e6c84236 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9199560 uuid:c36440c2-a54a-4905-bfe7-4993bec14d45 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9199560 uuid:a604f65f-1e0c-4d92-835f-de599c8b84ee phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9199560 uuid:530de41f-1afb-43f1-aa0e-7550bb13e7e7 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9199560 uuid:c842693e-057e-4551-b660-e94c23dccae5 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:0b18a7d0-cb40-4503-b326-762e82c2f98b phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:77589796-0584-4adc-815a-714d1acc3477 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:5dbaa9ff-e15e-4f82-9bb4-f938e1b82af9 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:94ea5647-130b-4a5b-9abf-465aabc85508 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:6a110e43-1cb7-423d-959e-a387d778e657 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:0055c429-9d4a-4c21-822d-06de44c03d0f phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:0163d96d-eebf-477d-8b1d-19e173008047 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:826bfdc1-f594-4fa2-a7fd-900aaec079d2 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:6a4b1eb3-084b-4931-9778-7bcb2fd11d8a phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:e5bb21ff-a375-432f-87df-62e5515ca558 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9199560 uuid:3b2b1410-dd74-44b5-a4b3-ce43eb5d7800 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9199560 uuid:b8d14385-abc0-47af-ace3-daf4495820e4 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9199560 uuid:afeeab00-0c85-49ad-9b3e-6fd3d7180016 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:f9b9a82c-c89a-451e-91a1-4a7a146bc2ba phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:bba06758-40e5-4c0b-a2ce-667bbdd97403 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:673ad143-15b6-4338-aff9-becdef67bc32 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:c2818c95-562c-4090-b2af-6d8ee9c2e590 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9714438 uuid:8db76038-7c63-45f5-9f35-a65b5869fb7e phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:b10d0e83-08df-4846-a5db-8af00a541eb6 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:e1083f77-fcd6-46d9-a3df-7f87399837b3 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:7fa0ba0c-56d4-4aac-b7dd-b63275590414 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:99e4bdde-0d58-431e-a90e-7b21c6202d3c phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:ca6a8d90-e1bd-4d34-aa52-f675de79f22c phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:b1b24be0-e84c-441b-869e-032aa44e2711 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:bbd16876-ae4a-486c-aa4e-c1d363488b24 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:612e7007-60ff-4e7f-a87c-3f6747b97496 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:89ace76e-597f-4f43-a61f-74f16b18d4ac phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:679f819c-4caf-4d6a-af29-9d8f349b8244 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:29fa6886-3544-4fd6-be28-21e28709a534 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9714438 uuid:fe4dc382-877c-4020-973a-68ca983d9595 phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9714438 uuid:07d66d37-0898-4568-ac07-dfb97b225c5a phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9714438 uuid:b6eda734-1aac-41f3-9a1e-9fd3d2e00297 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:2c1cb114-5366-4c44-90a8-848808b29fbc phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:a71cbd0b-2475-414c-91ee-6fa9178fa550 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:e52922eb-1fb4-40bd-9a28-a600b80c29c4 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:e9aebac1-1469-4818-92d7-b6f36947c854 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7493032 uuid:8c29fc8e-5816-40c9-8835-a35c15139a50 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:05433d17-1a86-4a8b-8b10-310ee6517a1c phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:173e5444-05ee-4fb4-9b66-aaffb4eb8c54 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:2384617d-f501-49f9-96c6-4a2ed30ead71 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:69a7e5fc-b72f-46d5-b550-d21d67b7ee58 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:7487c824-957f-4e67-8018-ef860fbdf28e phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:36f39c3e-7c18-4ce1-8528-cd7d48907ed8 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:0fadbe22-fb49-405c-ab2f-94780364c6d0 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7493032 uuid:c08a456d-74e3-49b8-9f63-ea69e128abd7 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:7493032 uuid:67782165-da4b-4a57-b26d-df5753e2c067 phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7493032 uuid:d4af3ae7-82b5-4d94-b220-7d731374f134 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9737771 uuid:53b482eb-f64f-4bf0-9ae5-7943cc78b568 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9737771 uuid:8b3e772a-df90-4dd0-b38c-898fbe3bf59c phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9737771 uuid:56af1fec-652a-4c4e-b4db-3b7089947a2d phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9737771 uuid:e402d121-888c-4969-8a14-9d2095278ad2 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:cee4c7bb-97a9-464b-9897-980bf3f3a7a5 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:8e7b26a3-0e55-466f-b750-10d6e4b362ef phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:23a88139-5b9d-4e94-83b2-67ebc41e0103 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:8864108f-cbbf-4603-b53c-0550b9cecd8c phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:7a9c80ad-d7dd-46b1-ba8a-1fad199188cb phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:9ef94348-ada2-49f0-8683-b5be18a729f8 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:5e133203-bea6-4a67-bdab-a1f2941a7b4c phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:2b239a06-bfbf-4c86-96e0-b443d33aba72 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:e20ff346-cce6-455c-9765-28ee5a61c5f8 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:76231e09-5ef9-4ff7-8193-c93660e84acf phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:afd9e57e-6253-4b16-8f0d-742c7c80e562 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:508ce028-d4b3-42a1-8c0a-ca9038934948 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9737771 uuid:e3019030-cdfe-4e01-b449-7e19599b1f14 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9737771 uuid:eb78e5ff-667f-47e4-a38d-5f97d432db19 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9737771 uuid:945677c4-c8a0-47f8-8f35-4f29fe385fa3 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:bdb46b89-6f30-4b3d-b279-b8aa35e6d9e0 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:d1220032-e195-49a3-a033-b8e613272d16 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:c57572fb-1999-48f1-b55b-843154054719 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:ec6096b2-f34d-4c3c-80f8-0f98847f10dc phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:0be870ae-78db-4c27-8c1e-6305b549e4c1 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10797416 uuid:7518b522-a457-43f8-821d-ffae36e2ecdd phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0001836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:d574021f-f352-489b-8c66-fc97819e3201 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:b124ba31-1e96-4def-8f6b-20c59c5ad479 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:94153b67-3b18-47b4-a3f6-981ea2b07c64 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:ebad6c22-30d3-4b1d-adaa-c2a77e0afeec phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:784ae907-610c-417a-9fe8-637621a68d5c phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:80856297-3145-4671-b22c-6958c530ef90 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:777631fc-4ac7-439c-8e66-c15205539268 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:6389480d-d9ff-4549-8cc6-09e58758c5ab phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:277fff72-9914-42a7-966a-518e415d489f phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:d033e36f-ff34-4fa0-929b-9def6cf0ae33 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10797416 uuid:530a3847-8db2-49f9-82f7-7f567a337372 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_disease OMIM:121050 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10797416 uuid:ec812df5-2e9d-4bae-b6fb-cc975dd1ba58 phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:has_gene HGNC:3604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10797416 uuid:91d2e960-b0bc-458e-8682-2e30690fc7c5 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:ea66f9bc-1d7e-4f39-916b-2bdd87341ef2 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:07199fd0-4916-4922-8b28-d46152c5e069 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d0692d12-2b31-4d0e-beeb-1ac5e41d369b phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:83a806f5-511d-4e80-8b4e-44a6996a598e phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b1989866-7176-430c-9f6d-fd20fad43692 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:5c9c9e42-61d0-4a78-9b23-826681990160 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:7053b021-47b6-4209-b81e-e7aa12a32c29 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:550ab4ea-75fa-41b7-8b2b-6f3cdb426522 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:eb591bb8-dcb9-42f9-8bb4-b4bec903df52 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:30207f76-a2d9-4b79-9626-3904056e0f04 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:65d981ae-76a5-4f63-9ae6-97166d220ec1 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e990840e-bcaf-41b6-b4ed-a2b50dd6e8c4 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:de99a09b-bc28-4c4f-abfb-e5978716c4b7 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:527b3f3b-b6ff-46a7-b88d-dff1aeca30c2 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:91ffa701-7af0-42b7-aa36-25b7c9f30fa8 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ff8e0e95-a11b-4432-9e76-12bfad7323e1 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e9325ad1-e59b-4100-abfa-0d77bd4c5216 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4a4a8c02-9a9c-4faf-983b-8f918c6a74ab phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1f2c82a0-c348-4ae7-aeed-566df7a55eb6 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0c491120-6cea-4255-8bce-da2066b236c1 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:aff90964-21d8-4f5b-9df6-93fbe4c6e1fb phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:06cd9a9f-d3fd-4cb6-837b-ead38a4424b7 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f0d82b4a-48b7-4402-8ad8-8a259df43af8 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6d0203c0-0313-451b-9532-3d98b3e0d4e1 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:855c9e2a-0a7e-4d68-adff-ecaaf0c9f677 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:fda568ff-e965-4d19-af97-9e8e16fa8514 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:cfe7ffe8-94df-46c4-9f6e-28b6c5551d8b phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ec598c02-1aa5-4eaa-ae3e-eff371493fc0 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4a08faf6-28fe-4ed4-8e42-54a89590af03 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b57d8737-a580-43fc-9064-0670aebf1582 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c02b2a39-6a4b-4698-b4f4-7b0db8596680 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:420098a7-b7a5-4883-bc29-d79250abae57 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ed9ffe7b-aacb-4085-9652-abd98badd6b3 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2fdd518b-7783-4634-be71-f9fe76deaa5a phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:a009638b-5ba1-4849-a029-5a8cbee53bf6 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8ef66936-6d12-402d-9bbe-493f77b64f60 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4b2a0f7d-913a-43c7-b5f2-51f7822fda41 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b72e4bf0-634b-4058-a61b-f6f6a921f684 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:05f41edf-73e2-4579-9b00-1d70cef6ae76 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e522e1e7-d888-425a-89b6-b2d7fea9d233 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e0f09e12-96c9-4425-a54e-ed9cfb1f95c4 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:589e8f6d-1742-43ba-8a63-f679954b81a0 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:fdfc3031-7588-4316-be9d-a12e15cc927a phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:23993194 uuid:21bea0a1-444e-4e1a-b9ea-c88e8b2d69b3 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:80a5d8ff-d80e-4b79-ada5-16bc8aef4b14 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30771478 uuid:cf83c905-f229-4c7f-a657-f02bdd593cf6 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30771478 uuid:956d211b-9fb4-4726-8e67-c33cb91f5de3 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30771478 uuid:771caf99-5d28-404d-a79e-531ed5e21d14 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30771478 uuid:a3debe4c-3da0-436a-b255-0b0163e61a55 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30771478 uuid:91bcd3fa-6a68-4329-b26d-795f7cfec2d0 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30771478 uuid:ed2818ef-5e47-490c-91b3-c7419c2e18a3 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30771478 uuid:1ad78c67-0564-4d8c-a65c-f337f0ebedff phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30771478 uuid:64d90f54-2b3e-41e3-bc5a-3f5322ba3899 phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30771478 uuid:f91b2927-2a84-4767-87ae-e1290d361d29 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b4258fc9-c627-4c38-a0d3-260b50efebe1 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7553a557-4eb4-4628-9d5f-8c2b91c1024d phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3be2bff8-db70-473f-ae9d-e0550b6943f7 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:71b6c6be-3258-4091-b8b6-c9043d703629 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:39e0226c-6d9e-4bba-9498-a7fff2980c9a phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:187d2597-9a9e-4d6d-96fd-ac1fcc110526 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a4e28bca-f430-4779-bc9b-46f28bec3fcd phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:16e92ba2-90a6-4095-9983-c207e1454b87 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:decc54dd-70fb-4737-ae28-59dae1774691 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:173d6f23-4699-482d-ad66-f6c232d59d53 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:dd153c12-6133-429b-aad7-104524cc532b phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:f9e0ca79-14a8-4ef4-b81a-9b5b00b4c2aa phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e9916a0e-f836-4b27-b8a4-7573f371450a phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:34dd9288-28f0-4cb2-ba4f-91f905bd89ba phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:05db5cc8-1556-429f-9e1c-f3e36e7266f1 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:297920a3-ae50-4fe1-ac87-473caff2b22b phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5470eff4-0bb9-491d-851a-7a271119b872 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c90f2ec0-5a7c-4295-a77c-67563e11c196 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ed70f660-4ab5-4068-903b-f451d83a38b5 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4c6b0b15-cc1b-48c3-b2f9-70fe53d2ed04 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7256212c-067b-410f-abd2-7e8c7fe41a2d phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6f75c963-3412-477a-be4c-c9b777ebebec phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:af488e53-2303-45e5-a3d5-0a7a5ec1c986 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1c1ef8f7-ee17-4dc1-ac8a-b12ac4fc0a26 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e7c0212f-94b6-406b-b7a0-cad9275ea668 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:947c0e03-3a90-46df-a2ec-0d757c669533 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:14e2802e-0ead-4eea-af4e-82a240fbb630 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:220ed8f1-4fbc-4c66-936f-57f2500bab81 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:764d2808-b630-42b1-bb83-c5ab485bd49e phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8183278a-1ada-4634-adbc-ebabfc47ce83 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:25868664 uuid:03ec9b4d-9fd4-40ff-a458-8a723964cb92 phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:a987571d-7547-448b-9aa0-c6e588e47977 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:128f5301-531a-41be-80cc-8ac214b9eef5 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:e923a8fe-50e2-4dbf-8ecd-dbe54e372d62 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:ff0506e8-f150-4020-bc36-3563eaa1041d phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:bb2f2eea-ff24-46e5-a7ba-8afaae65047f phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:2152494d-0b54-470e-b75b-7cd9f9a13dfc phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:e33f009e-e2a7-4545-9615-105bfd3e42f2 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:5cc619d5-5c5e-4d2f-b722-7d1e69d07b15 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:19e7cd34-c690-4151-ae78-28fc9c23f438 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:0affd2d2-5699-4bc6-ac93-6972ebd08eb8 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:e820af90-4ea3-4c1d-b276-18600ecef1bd phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:232a467d-a54e-4633-9504-ceae1b4220b9 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:889a9200-b794-489d-9f59-939cde419c5c phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:6ce26de2-af86-4b0e-a41b-8c867a2288c7 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:b7fa891c-cf51-43d3-9c0c-70a321926128 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:d52462e2-9ca2-4963-a9e7-d75a5da82274 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:edd29c52-380c-4814-bdbd-051bba929f62 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:5286fa1c-ae9f-4fe9-a734-3cb8aa687fae phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:27743463 uuid:56680fcb-e6c8-46a8-b8c9-54565f2340d9 phenopacket.store:FBXL4.PMID_27743463_S6 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:a75655b2-283b-42a4-b22a-6afcfb7d8d01 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:df952df8-7d34-495a-9928-2e7e331b4f6d phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:388854b9-d89f-4eed-801d-0c5848ac60ee phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:380b7f66-9caa-4c79-a203-94b174aa5367 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f74e007f-f9c2-4195-89ad-b9a9a9adf0af phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:35bd7624-c581-4521-9858-4b0b637af25f phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6df0384f-397d-4083-bfa1-451b9d7c28cb phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:81102802-923f-47e8-8f7b-4a5e20e616ca phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:698fe543-fe35-4dd5-b68d-971b6f29a402 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b0169d04-6a8e-4a60-a1ed-36729d1ac386 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:68376aa0-fa16-4ee7-bd07-18e605488aca phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7f925072-67eb-4460-b58a-76f0ad8434b7 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8f5b1a2f-664a-4e00-a764-9f141256141e phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7658c31e-62ad-4612-958e-3c4f45961428 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:74413076-ebed-41f6-9498-121279222a2c phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:aad4ddde-f3c4-42b8-ae0b-e0732cf8f7be phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:96762ba8-a6aa-4a74-9a67-ad93d958b1d5 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:45477aef-1f76-4e42-b4f1-eef3d8a78bb4 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5039971e-ee27-4fe8-a0c8-67e8de715cc9 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b4f00721-f13c-4852-81e0-a020fa024a4d phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:9d488f65-b06e-436f-bdd3-3e0031414d8c phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:25868664 uuid:18384322-5e82-4d4a-b274-41c0e8a35a20 phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:e5a824a1-9097-484a-8460-711f1a83f047 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:2c4eca25-85e6-43a3-bf7c-ac20ba534eea phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:a993f9f6-ba85-41db-898b-530d3818acbc phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:0fb42956-c867-44c1-875b-301c666f8845 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:385b5e59-7907-4c4b-a560-8c0dee9ac190 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:82057dad-ffc1-469b-b4a5-bcc483073904 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:834e600b-7209-4047-bc5a-d66569762935 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:2bc4e91e-1d4a-4221-b4d6-dabb193062d9 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:73afcceb-668a-41c7-8348-237b16a556e8 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:55363e91-c686-46d2-99e8-a1504a875bbf phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:780c8b69-d7f3-40b1-a8d8-bc4f8e8c5bea phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:80e1bbbc-28e5-4169-b868-9ed44c81b27b phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:20ab8e91-4c0c-4285-8d5f-8bc81a3083e2 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:d6ac4477-fc39-4d95-ac87-e0203c5797d6 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:667468f7-40c1-4b82-b7c0-ef512b2e2588 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:316d7a21-5593-4303-8669-14889625aad0 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:7ead4e05-5d5c-47a5-86c2-26df82420aa0 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:a6ebc50d-3996-49a0-becc-41674d3ac6ef phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:fcaadab6-d582-4068-b761-d535ea135dfa phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:e01464df-4338-42b3-be69-2c58e2beefa7 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:40ae1c95-54d0-41e1-8939-9512f3619a30 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:57c5007d-ff34-4059-a4c8-b6c4ee7146c4 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:c2a69241-1e10-4fbe-b9ec-ca3c7f4ad387 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:69040149-cb19-4d2f-be84-6f822c096b65 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:b7a530b3-5ae9-4c0d-8e5e-63276c4ede7d phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:8086e966-32f4-472a-b5f9-ddeb56e5c0cc phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:c3964a3b-6a20-422f-98a7-d979671eac2f phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:f3762a8b-9758-4918-8e11-8bac9453e10e phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:07528666-064a-4fd4-8cca-a17526268602 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:9fe3ee6d-d731-46dc-8446-31d90b42b8dd phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:f04fa462-1c7b-4f1c-87df-6897fd013c0a phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:f5a35758-8b3b-4277-87c6-9682157c94b1 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:2858fb9c-fffc-47cb-a32e-4ef6365bc8a0 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:852e6915-0f58-4da8-baca-042eabb2e684 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27182039 uuid:9278f9a5-5929-4613-b67b-2bf72b9f8ed7 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27182039 uuid:ce316fef-4fc6-4636-a2ed-a8cae501ecf7 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27182039 uuid:3ede7a74-d2b2-4abd-b539-31773c01e194 phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27182039 uuid:d1da10d2-8e76-4612-a87e-cd95591449f5 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6db6b2b2-54d6-4fa6-9b30-400c3a11afec phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9dbe0a67-bac8-492f-8d58-1fcebc70dd73 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:cd4d4a60-b06b-4f05-af57-46b94bd71a8e phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7868543e-1d1d-4421-99c9-a5fb12fdf16f phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c0daa9b4-2f43-406f-b710-85ab3c92b79d phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ebd70e93-dda9-4c54-88b9-a83eb174c3b5 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a0345593-f96a-4149-9720-222243f04819 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:97d05fba-8516-47bb-912c-4647408d1ff0 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:353a9984-471c-4d40-a01e-ccbcb69303f3 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f5d6c453-9b08-48c7-886b-1dee284e8884 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1f2a401d-02e7-4684-b647-2673e085030f phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fd4b7762-5787-466a-bb20-015ac004d961 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9f786a41-cbd4-401d-bd46-cd5b95fe228b phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cd2d3c73-4bc6-44a5-b2ff-3e52aea29851 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9c01a5f3-69c1-4dbf-9eef-dc7fd8b42aaa phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c29db49a-0825-4936-8dff-5d4163fe5f7f phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:878ef013-f68e-4a6a-904b-dbb2652154d6 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b1151dc6-794d-4264-a69a-aae75373bf14 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6e855418-2141-417b-8314-a7b30e5735a3 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c9afd0db-105b-4e17-892b-e7ee4bf12b95 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:461a629f-831b-4491-beeb-1546b84cfe69 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2818e42b-b8f6-41f2-a79a-f0f24014ecf4 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:26dca71a-8f5a-4836-9ae4-31214c6d20d1 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:73a7e161-36ca-49f0-b782-21b9f373a4b6 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4ca42441-45b9-400e-8f4a-931474835ce5 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5dea8d88-764d-49c9-9861-2b09d976e029 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:569401b4-6e87-4286-9126-27b62b09b8f6 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:09256ad6-d519-484b-8d2b-f2af3a42e152 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:18fac4a2-44dc-494f-8e81-ac36c940940a phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8bf8d554-84ef-48b5-9eb5-99890f0f05d2 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:20b1d99a-61fb-4da6-866b-64d80dcea2cd phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:03cd9d13-9170-4032-b5a7-9ae4fb5cb0a3 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ac3e866d-07e0-417e-aa2b-94558e3a5b05 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:09117d12-b5e9-41ff-a240-a956b0e9f2f6 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:32fc47df-d4d7-4de8-a611-f3a81648dd06 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a4cd57bf-bbe0-4c5c-bf05-591ca194bb6d phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cc46c37e-fdb5-418d-9e9b-6fe52d4e6d9b phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5e8aff54-a1d8-4a63-a032-3cad649706c9 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b53b0cb5-b809-4812-bd56-55c7939188f5 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:35cef73c-ec92-4fb5-96b5-955ad79db76e phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:614d64bf-1005-45a8-b2c2-248778b30618 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:36ac021f-565c-4443-86b3-46af99f64011 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6eabce68-267b-41a3-9bd8-2d2a02de3a91 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:529b3386-cc17-4077-87f4-550b479974bb phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:876a87aa-0646-4e76-be6e-7e3381cf7acd phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:28940506 uuid:f09c2476-078e-40ae-9e6b-94b0fce1fd97 phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:44ebf29d-5d65-413a-af7b-94b904a71cc7 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ee638106-ab62-4aa9-ac12-a50495aa3109 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3e37d515-605d-4377-bfc6-16ffeb5ce7e8 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1be97422-6d37-4080-a5fe-0d8b7fd451a0 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c4663d3c-2267-48c7-b346-6954ec52d145 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5061e9af-d32c-44a0-beb6-290851aec5b8 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6d30b487-4eff-40dc-aa9c-22daef47099b phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bdf6a92b-1fbe-4c56-bf15-9399d0170400 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1124c20e-3da3-4cb6-85d6-5950d086bd0f phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5fd717ef-e979-4e29-b0b0-1c4e7158cb2a phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:627f81a4-ed27-4d0a-8e6e-2bc360bcdfa0 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:da9734a2-a0c8-453f-9d0c-da189f20b3f6 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:bf3143ab-4280-430e-a0a8-08e51a13074b phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c2447941-c3ef-4a00-b9c3-c5a59e5db3ab phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:4206cb0d-b3a7-4388-86d3-2b8d4f14e291 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:36ea957e-4a93-4685-bf66-63097d47d2a7 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c88c41cc-923b-4aeb-a936-59fff2282971 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:755835b6-1d16-445b-8aad-3df0e100500a phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:62a1998b-a390-42ee-b325-c02aab2bd66c phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:66c0546b-69fc-4616-bc73-bc665fd834f6 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c12ee87c-1892-440d-8931-be54891319d6 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b4c087a8-80d9-416b-9a10-864efa4bc32a phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:e121a619-a2f4-47ab-a099-ad8cee2ef3dc phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7bb2289d-317e-48a0-85e6-3d87b7c83604 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7423591c-b9b4-4f7b-8c93-8daecc95e1a1 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1a531000-9352-4274-8116-2c2354f38d0b phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5f622630-d15d-476a-98aa-7a65606404f5 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d837aad6-77e0-4fe2-9ce2-daf75c572589 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:0a03e3a0-aed2-4a7b-852a-e2688f5a5144 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:e24b1a00-c238-4af1-bc84-e9e57d4f49d9 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5b3e2367-f121-40e4-9a57-a5efe813bf76 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:82ce9f60-37a3-4bee-8e6c-b3c6843ad21c phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:9d2a7e45-c5c5-4dbb-8e8e-25814a4e1b67 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f1ee7730-9443-4907-8c3f-5c12b6301cb8 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2c0bdff0-cdbc-48d3-8e63-3377f692b52f phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c0661cd5-a3aa-4599-86a2-d88a8ea2c4b3 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c5613523-0186-4bbb-8460-7db6661afd16 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:59331c27-b1c8-4b27-9e4a-9d0ade549a4f phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4557b799-6136-40ee-b9c1-4dc32ff4ba84 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:183f2431-de2d-4282-a06c-98cdf585bc9d phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6c2e9d02-731a-437e-b417-cf1c3cc60939 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4a83a2bc-8853-4822-b869-2f433377a7ca phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:57b4813e-8d2b-4d13-bc21-f36851952eb3 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:85d29828-ca08-4be5-80e0-5eff45c857e2 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d46c582c-9ce9-4f69-a6ca-5beb6846e029 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:9fce62e5-bd30-4a10-9dc8-3a5d3152857f phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ea1530f6-89c0-4249-8cca-78320324994d phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d650ee48-cad6-4310-a8db-2ca262e20810 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:36d52776-b1f1-4459-b4e9-7008857572c9 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7a1c1cfc-2185-4274-a452-f56a44276e25 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:07c5e427-ebd1-4984-b30e-2bffd262e65a phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:435dc28b-adbe-4db2-b101-ffce24a0531e phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5be95712-0d4a-4320-956f-1438fc4e3c4d phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3ab88d18-b97f-4311-a9ec-3ce701175443 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:60328b21-734d-456e-95db-ed4dcfc085bc phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bda6b600-e504-4678-8226-ba304afd6bcd phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3fae1a2e-fb8a-441b-b627-e96e05a86dc4 phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:b91c4dd9-555e-4d43-ab28-8b3b3300660a phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:b1dda992-e812-4aa3-89e9-da3476178ecd phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:a1cf3974-6cc3-4ff4-bb6a-0977e906fd42 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:0995a147-e217-4210-b830-db78cf335095 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:aa20686d-c34a-48ae-bed8-66115b06a204 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b8ed9988-cd1d-46bf-8635-ecfbd3a265a3 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:96d5ff4a-ef26-43f5-9d68-5f11d5c22bdc phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2f8ab537-649b-4a3f-b198-2580d1732a97 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:83a65143-06cc-4198-b73c-e364f735d941 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6355cac4-9625-4b9c-8fe5-fbd8610ad259 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c4371c15-5609-41b3-87f3-a9b5a720f57c phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4ec641ad-a5ee-4161-9384-b8562dbca431 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:01470cc5-40ae-4f38-89d7-e95b8354ea27 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7eefb4c1-17b2-4620-b810-3c95dfb2ced5 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c76c5581-6c26-48a6-998d-a102cd141bc9 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6fc9a287-86df-4c89-bf66-bb547e4fd4dd phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6f57991d-d316-4d7b-8051-59b8c98dae18 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:751018d1-6d60-4ea9-8bab-71bb0a36b0b0 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:f6cd8b82-a1e5-4016-b9b3-20b5d0d9d44b phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2a209e03-38b5-4e1c-bdad-e2ef5d7cc184 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:de6fb4e1-a016-436d-997c-0570fd6d04b9 phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:e346b143-d074-448b-8981-bb91f7ca326b phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:150e41ee-51c7-4185-b6f1-d6713c4dd670 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:446e8e6c-d91b-41e3-81e5-e84cb1ee11d1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b5932575-f141-4937-bc18-52889b92df18 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:236bf351-639a-4628-b82a-efdac9c5f3ab phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3a698970-5261-4d5c-9563-60a861c22280 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ecf7a66d-11e0-4d91-b9bd-1df49847e4fc phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e41cc644-411d-4132-84c2-5cb6efead413 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:59126c42-cc33-4329-8ce6-148dee76e33d phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e0c8e303-7338-4e77-af13-42b6fc709a73 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c89b0eee-f50a-483a-9483-8614c24ff6f2 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:74fccd50-403f-4ad8-bf82-027b6fb21efb phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bd64e03d-1dbb-4873-9a18-08ebac067556 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef71cc8f-0785-4e7e-9fca-e684bb7f1165 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5d7e611c-4446-4b59-b9f8-06b28b174f80 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:86e62802-fb97-4796-9cbb-469ad9cf71de phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b856fee4-591a-41b4-954f-9c4c533b0f89 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b40e6e3e-f2ed-4ed2-b0f6-2f71ee5d6bc1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:85ba3a6c-9c19-4daa-9be7-24a5afa5a379 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4023a933-d619-449e-bb8e-81b1bdb2dff7 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:29702eb1-5918-4428-a18f-89111b4a3d22 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fc91b7df-e561-4f96-8dc9-c453a3623c5a phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:055fe709-ba33-46ac-ba79-071c2c778871 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:555946b5-b7bf-4dc6-a4a2-2d66a6bed414 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2f29d1c3-8a6b-4a5e-a545-8f6b5a79f865 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bae0ac5a-bcd4-4e28-b4ec-531d80cf3502 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5b61773e-f872-4e74-8b8b-156dce10b6db phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e6b61f56-6af2-4291-bc8f-fcb388b1eee2 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c322bba7-c896-4802-b7f5-1aa47aa36df9 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6736703c-44ef-4e48-bb50-709ef5c7483f phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:149fe3b3-82d6-46ab-a32f-967567d05347 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f04fba13-6842-4dc1-a29d-0ad40d4cbc3d phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:95a9f4bc-7fc6-4dba-a339-ae052b771e35 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dddb62c9-8e72-48e8-86c5-1b878fe2da62 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be7f7186-adc8-46bd-95ec-c18e95905f03 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:efe81856-7e8b-472d-b769-8c8a6b8fc6f6 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:630ec324-1ac7-4534-91c0-01c43dab65b2 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:262d3d67-6620-4ac4-b135-e1d5f371e4bd phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:246d9e73-f57f-4e4d-b9e5-bd4f2720bc17 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2e612cd2-c4c2-41cb-a238-c31822a96af1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eab74a49-0d4d-4326-9037-4b75d59bcf5a phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9afb4d5d-d90f-4a4d-b085-322c73cb3334 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a2008db8-93cb-4507-b630-e12a494105ca phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3a10bbfa-a650-4404-b430-5c66ce4c5a48 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:717e3bee-75d9-478a-aee5-f1f016d8342b phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4094076c-a186-4e37-99ad-32099ccb0032 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:28940506 uuid:f85d9c49-e7d6-4485-b29a-32ad46fb64a2 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:ae90e492-d4b3-4070-bee9-7b5908864ba5 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ad34d809-37be-4d2c-9125-97b25a661573 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3186910e-3fdc-4a8c-921b-45f0fdaae537 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e348e434-21dc-469d-83ad-7bad54367bd5 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e9039561-6252-4cad-8331-2267df7c4d7a phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2ccae58c-39d0-45b4-a9f1-613f43ba9000 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:53c446db-f1d2-4ec7-9c0b-5e98052e66ae phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:87ec4e9b-70a6-495a-b92a-37fc7a10fdb4 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:19df3546-2b6a-47e2-a121-51fe10c6c291 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c2c5697a-0fe1-4b58-b3d0-e69205e5271a phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1a81533d-758d-4892-94be-2ae8ea6e1488 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:51e1d7af-eb9e-47d4-8216-00ee6821163d phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9e2857bc-4bfc-4b64-8898-b0ab6619a17c phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c0f29f56-1950-4ea6-9afe-071dde8ce0f1 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1fd91e32-229b-40df-8570-f203a7c4baba phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8c3fab29-f1d9-4a9a-a730-a3245c277302 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d41a7dca-ec1e-4274-a211-092c97323c21 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9f3bf5ac-3baa-4bf7-8028-db43ac626fb5 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3ceb6875-54cc-4e46-92d3-7d9b110f58b5 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:017b74de-ec35-4a80-8ff1-cc9b5c780b61 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ba080193-6e19-49cb-b51a-7e1f43196fa5 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a1c869ef-f7af-4152-bdfe-619ba446d7ca phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f9db5fad-bfd9-4b18-a028-95ec74c52e3a phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3c58bd65-2819-41db-b5ac-3c50793133c8 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3de32651-1197-4b0a-bae7-d4265aa93363 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:84142b4f-2819-4469-8902-23fa2990f879 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7dbc97c9-e25d-406c-bf06-d978f9b3415a phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c97daa29-ca1b-4200-b51f-2cfc617f55cb phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3d519ad7-763d-4392-833a-b4704682f346 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cc9a9a09-627b-4923-bd80-977527642bc3 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:526ca255-2286-426f-ad62-2bbd8dbaf96f phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3901942b-a56e-4edf-84a0-da72e823b608 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c029e791-6385-4368-a479-a154e571f6f1 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:995a4f9f-3bd0-4680-991f-74b2f7f3fe4d phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fa8ad72d-ce02-4cb8-a5dd-3b6e59145ff9 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2f1de26a-ffb7-43fa-a1b6-487baf5d83a6 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b321ab9a-4413-4f49-a841-1b98594756d4 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f3162b2a-f443-4487-abbd-2100f9cc7465 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0b96c888-c4a4-4053-a99c-d7229ef3fbc8 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:55914800-f392-4289-a30a-fc4ae9c48e65 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:25de1716-414f-4036-9dd8-10d9f29150bb phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e8dcd213-8e98-460e-9d1b-29358d01cb04 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5102bb3d-f6fb-4c8b-832b-14b37679323a phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:47e57df9-8cbe-4c22-b34c-aee733d2b55f phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6d54679b-f50c-40cf-9091-48bd4eb42b78 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:cf8c4679-8b13-4a81-a9a0-924aa604eae6 phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:72c0a679-e8a6-4dd1-9bd3-03c391f57975 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:07c3519f-c3cf-435b-8db9-67d4bf330eb8 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fe3dab56-4f41-453d-9567-842d960f8402 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:efbd4196-dca6-484d-9333-9bb51e201bb2 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:76411e80-e689-49a0-bc88-b027ef692621 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:546509a5-4b76-43bf-a19b-81388a790b8b phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a86e999e-1d68-42c1-9287-fe3420330cd6 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c20fef5f-5e99-4db8-8166-26be442f47c8 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b3ec1288-10d9-4d73-bb19-587ca6bd43ff phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:412fa4ef-d009-4393-8baf-697e232ab86c phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d2082a83-8ca8-4dcf-9868-fc5b15ca35c8 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c177f452-a677-4b88-8f6e-f33bfe97b0b1 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:81695856-e8c9-41ff-bebe-fc4888c6da77 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3376f514-1d9e-4bb2-ac08-a2f70003f433 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f894da78-d567-458b-8727-7286b6213512 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:20ad579c-0984-4c0e-b55b-1c294cbafff3 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ea62279e-21eb-4821-86d0-e1c713b9dd7d phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:30420caf-49a8-40ea-976c-255a99ff57b8 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0842d75c-0e8e-4cfd-9f4b-92597ca056c8 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e5aec52b-0e4b-4c01-a150-c0ec35eb570c phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dcddf569-a18d-4798-9f4b-0480f170a586 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3ced8547-c692-491f-9c2c-c9b63251ef78 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d8fb03a9-f1d2-4681-a73e-28c9ea67904e phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:864add0a-9a18-4eef-8024-c657bd213bfd phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9ce7a510-c991-4d1a-8b93-3c298ce79ec7 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c3cd852a-5cd9-453b-9fbb-56241c88f792 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b8c6603e-f753-4da2-88c7-b7ec96fa3528 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f799b9fa-8286-4b44-afe0-8d58d996e0d1 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f1ba6c30-2a7f-496c-9b29-282797bbe3e6 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2cb374b6-28a9-4b13-adfb-c9c555c64a99 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1705a05c-6095-4983-9205-fc367c1178ff phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:40ba973a-7a2c-43f7-bca7-2839b19a5267 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:91bca117-b1b8-4130-8144-1cbd83de6f8c phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2725ad58-1854-4436-b036-d42a64e84c07 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:50da13c6-86ca-429b-9edc-64758e92edc9 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bb1a4b2e-6cca-405f-83e8-aff77106925b phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eaac40bd-dcd5-4cd4-a5cd-1fc9df0a170c phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:537f1653-aaf3-4f42-8ff4-611b5c3adad5 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a4ffc672-2dea-460a-9d43-7438b8f5cf70 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:acd5f37c-db2e-4c5b-9cd5-ed832bc3270a phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2a0b4b37-c339-477c-a1df-9cbc7877a78a phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4d74ae76-61f4-4d04-a15d-cfd7f35bc932 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:623286a5-524b-4fee-b18d-271d811fbb02 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0beeb066-0d32-4ed3-a528-0b48708204f3 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3766a512-f18b-47b9-af63-5399072bbf1a phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:709006d8-905d-4e2e-bcf8-5f91f04f3101 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:75aa68f8-f3f8-4314-971e-0ba2692833c0 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:64e2745f-29eb-4c55-b1f7-5a637433cf08 phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:ae5a1bf7-0fb0-47e2-9033-834acd06b9fa phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:40c818d7-4396-4e3a-97b8-f28e7fc6c418 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3d6629ab-e91d-4bc9-94b1-0be1526cdf4b phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:82ae0549-9cb8-4dd6-9832-b9fa84abab43 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:96d53490-9bd8-4fad-ad44-8446e5bdb6aa phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2dc2f31a-ae85-48f7-bf56-8e241999a2c9 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:85d93846-60e1-4f27-ac37-2110f6bc2e2e phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bfa9861f-33e0-4ad3-86d9-c58c4d4720b5 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e5a4e550-d57b-485f-9fe6-46b0bbef91c4 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7b092183-d26c-4b92-bcdf-782a48616f0d phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7e848c49-b955-4ef9-8f8b-f3a2b032bbe1 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6409a2d6-b6f2-4a26-9b55-592fb33403d1 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:244948f0-b3e8-449f-8120-6af85fda0b13 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:a99d7a25-fc9e-4fd2-bcd8-ab0857235562 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:37489f4e-b569-4910-bfef-a9e900d309e0 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9e8cceed-9a3f-450d-bdea-365b48891aeb phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bae38d90-5033-4fba-b597-20740431c31c phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c0852e5f-bd93-4857-986b-3e27b2189a55 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c1f82afe-6775-415a-bdfc-b0c20d999bf9 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:98bfdc28-4e44-444e-8f44-deda4cd36a41 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ef805e3c-eb24-4998-ae19-c6ea4fcb7349 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:77fbb2c4-b3b0-4454-842d-c64ffa559542 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d1f0753c-ac33-4a85-b6b5-fd971a28eb48 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dd999a18-1902-4588-a29f-32eff196ec39 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:618f8955-93d1-4079-a12b-70e01b1594d6 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6b26fa57-d1cb-4650-aaf4-915310cc83f6 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:caf9fc7c-afa9-440f-ad0a-c885b7d4b4da phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:3f98a393-7775-42ff-9629-50c59b1e1c63 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8565c3df-78b6-4669-b25a-c8d0917403ce phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:912e5d37-3e6f-4e85-ae2e-3dc0e216f2bb phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:05c970ba-1235-4937-ba93-ad7bcbfcbe5e phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:cb9c8375-8c00-468a-a4bf-445c7ba610b2 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b1807d38-b5f6-4348-ab95-49f06f446059 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:79d3676c-4d58-4b76-b88b-299da370d129 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f54b0bd2-3b18-4e00-8e18-bfd00931eee7 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3d07f353-97c5-4f7c-b247-583b5e9b1d51 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:723bada4-5ec3-4fbd-8a5e-072c9f7d3805 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c4279002-3ba1-46f2-b6f1-11bcad0f1a44 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f11cb90f-3cbf-4d26-80a1-fbcac13ea368 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:71e5c83e-f722-49f3-8466-f16f83660557 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1b6871b7-0cac-4089-8257-9970fbfce7df phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:38a36f8e-c30a-4375-88da-5300f1ff247f phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:dacafc0d-fe75-448f-9965-825a9d1cae75 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7edd8c66-03ef-46d3-8cc4-f27478e52c6a phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c2a71e99-8d85-4119-bcd7-f92827145cb2 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c811762c-bf03-4b65-8cc1-508fc74cfcff phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:41f9b2c6-6927-446f-b940-9712e69277fe phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a39bc978-3020-4461-8dfc-2dbe0d73a8b5 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:073333cd-dd64-4e42-8f05-784ce9a2b13b phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0ff49933-11d3-486a-9897-7978d9a42703 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:69917e6b-891c-4d32-9106-ad5850883233 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:47816475-d880-42ac-a4df-5cc3edaa1e64 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:23d638ee-ca88-4b89-ac02-9d8bbf5f384d phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e357a7df-c724-430f-ac96-926fbe37cca0 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2bcc4851-931b-4443-abc5-0cab75f536d7 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ed440d1b-d141-4511-989f-ed806df6696f phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:98c9c5c8-19f9-409c-847c-b9b5afb0db55 phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:b9817c63-23f0-4db8-beb2-882885618b7e phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:555ce2ac-d5eb-4e5a-b48b-780844c55532 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:085ee887-9645-429c-bc8f-fe3c697cd297 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1f9628c6-b203-4464-a911-c2956d1e29c1 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a6a3246e-26f3-435f-85ac-cffe9c058105 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fb645724-1b04-45d1-8282-ffeee4b1a765 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8ebb2ea6-008c-43e2-977e-16f61a5ee7da phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:77ac9193-0f48-4f4b-8d42-83320215c4a3 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8031dda1-450c-440f-b5a4-9026235aab67 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6e5a2648-cecf-4f41-a161-c4f10aec6ba9 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ec46b7ca-21c0-4507-859d-a2c05f0fce61 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:934ff52c-2ac1-4018-b145-85601cde6760 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ed7b389b-ac05-4a37-bd4f-b0becaf8b9b9 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:de9dc01f-67f7-4add-b102-be9e692f27c3 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4708cefa-52e8-4c2f-84b1-ddf29d18399d phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a7f0cf14-dd06-42e3-88c3-96a3eb4594da phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:67674793-ce1a-4c0c-bb54-aae8e9ed7d37 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:31108d9b-fc2b-4cba-880a-5713f98ca48b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b5ad7945-0d36-4149-b69c-a9ab0b22a481 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:15686476-fd4e-492e-8bb0-60664b86a858 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bb839a03-4b0b-42c9-9464-f24621d820b2 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7bf4dfba-816a-474b-be8c-b4890dbb8c1a phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:144a64d4-3497-4540-9869-9d6e3c82a75e phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9ef371bf-426c-4599-8882-8396f90c86d8 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b06ed75f-22df-4d64-8373-30dddf37c3cd phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1e0a2d58-d217-45e6-93c0-8a698a07fcb5 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4cc2329e-b51f-440e-ae81-689091e45168 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3b6e95d0-82c9-4101-b443-686da41b61bf phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:58e2234f-7b3c-4b78-b6ce-de23032af906 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ed71b98e-e86d-4326-81ef-9a0499c8d455 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a6a11f78-dc5b-47b1-a054-6bf3884d5969 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:882a4e96-d228-4789-9bbf-6f8860b205ac phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7a468bc7-8a41-4a52-875e-bf12359d73ff phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ea571f1-efb6-481d-af03-54aa0365b80f phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:26d70e10-a917-4ae8-8da5-641b5528c219 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c92ebab2-175a-4d80-8b60-fbe294b42d29 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:262fa334-163b-4cc9-9835-1a276a729137 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d5ac10de-8e96-4479-943c-6ce70bca456e phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:09f94b93-22e9-4152-8580-03a89e4e07da phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:439dffe7-d033-4ac3-8774-accc86f4555c phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bcab8527-b86f-4bfa-a8a4-9b761a21ea02 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5dfec0ee-a19f-4858-b960-0692e6591183 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5db76b76-ffce-42f0-a95f-9ea0b2dc4244 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1db94027-fad6-40e1-a8c2-f5a3f33965f3 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4e9d4653-9670-4e51-8f7b-db71c585632b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:296bd819-a266-4fd6-b4f3-118a48dcc057 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6105a554-90d1-433b-b8e9-a5af022affad phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:95ac3748-33de-40cc-b008-3d22d56f1390 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:130574c2-9292-45c8-bb08-6dae576d4757 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a7cbec28-c285-42a3-9375-27803deb3b6f phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:6714dd10-7d09-47f7-a332-915062e93ff7 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:36ef4142-e647-4b12-b710-f924c6f70c4a phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8734870e-93a1-40b2-bcae-e0d160b88f52 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8cb8d625-a0f6-4799-8387-3ece7182278c phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:67ed1164-5b42-40a0-a946-36e59f14fda5 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f85d10af-c167-496f-acf6-20ed0ec1d7d0 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:47dbc456-7bf3-47ad-b345-5b6a0b941603 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2172c3be-fd11-48fc-b231-7edb20608932 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3fc48032-bdea-4792-ada8-248b5f7eac95 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:acf81290-478a-4b2d-8839-9a11b9c34ab6 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1dff76f1-487e-44fd-b5aa-c6ff8b938d1d phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5e6053c6-57a3-4b49-8322-e5af1f214ae5 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2e2864b1-3217-45b8-8b99-43e20691554e phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a8796c99-54fc-45a0-922f-2e855d980782 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2b4ad21a-9d00-41ca-8df8-4082039067fd phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:73095403-36da-4ef6-92f6-5a07d63505b5 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ff7585fb-02bd-4bbc-92d7-f42b2f3ec978 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ca829272-35a7-473f-a2b7-85be2cac055c phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5e4cc39f-5b93-4efd-818a-9f4e6dc56241 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8ad075a6-17d6-4f61-8c34-14c80dac2840 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f47649c1-041c-4d23-9618-ebf2e25e5692 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2c431ec6-beb7-4faf-ab86-ae62d2dd8b56 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0c5f1746-3ae8-4112-b146-13d881ad19be phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d4acd0a3-b02e-4b0b-9479-a15d44cc51f2 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5bd8bed5-ee8c-4d03-8ed9-8b8badc8652c phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c710531f-8c6a-49bf-9831-1c3446d4880f phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:086abf3a-758d-489a-aabd-05ae165c7a23 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bdd2b1fc-c2f8-493f-b8e7-42da2ce2c554 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4d332f02-ee4b-4356-950d-ca4ec5f0e203 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:16274ea5-c6fa-4a6e-a479-c01241e5b04e phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:839018be-22fa-48f5-8a2f-fc881c648437 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7c8b7856-69f1-4247-b93e-8ac1b4507fac phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9bb5fb88-0115-47c8-a9d0-b4421a75b19f phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d2e92423-6d03-46b4-a2c2-552b27f40e9a phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a3852c43-cf9a-4a96-ba9f-41da2372035d phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:446e762a-e92a-4e37-a2c7-d72f9649cc35 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6009161d-38f9-4c3d-9cd1-59d350544609 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:90044549-842d-4589-9ba2-16a51574ede5 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:52eaaf7b-b670-4fe5-9d99-dda790f8272f phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:66f8fcb2-8d90-4636-9f5e-cb1606ce811a phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:62f83374-6b69-4e4c-a524-9349bf9d9dab phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:171252ed-a7e3-4f2b-bb90-8e7c3a05eaba phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d14dcc97-3bde-4c03-a3ac-2f84bb267ced phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:75c930c6-686a-498c-b6ab-71278e64a0b2 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7292e51b-10fa-45ee-842a-e41a87905f64 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6208abbd-b892-4309-aa8e-d58dc0c6029f phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:9ec16ed2-eabf-4fd1-a1da-a40e2ce3d887 phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:bb4a46d1-5325-4fc0-89ff-1a92428f3d02 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:ee200ea2-af81-4943-bf48-bc51eea1646f phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:2bc4ebcd-17cc-4efe-b82a-2e8c7a7bc813 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:addbbdfa-63c7-4eb7-a670-4882a18567bb phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3e095b0d-70e7-4590-b8e2-a9979f5acd19 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:9a26d8c3-96a1-4e91-b2e7-bc68bbd40924 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:fd3aa4ad-5a8f-4fa8-8977-3d7853496fb8 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:6a4b0a36-2014-42a9-8aea-2a4057137e28 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:ff8256a8-c8ea-4f52-8a2a-6211a53761f0 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:83768c57-d9d7-4a93-96ae-962076ab3834 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b4acc6e2-99bf-4fb1-8fe2-7a1a31457359 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:86a4de88-b8df-44b8-85d1-7158454bd9a3 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:5900b17d-0c36-44f1-94f1-9e3f5eb3c937 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4c7c5090-3502-4841-ae83-3a630ec32a46 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:a187c9ce-4ebc-4424-b446-896f8d449b87 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7db3c70d-cfb9-496c-83a3-baad7852ed8e phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ec438558-5aba-46dc-99a3-d42fa9508658 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:22a0c410-a9f5-49a1-a9b3-cc89d2f1c645 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b46a9263-cc1d-4300-aeb2-4fe84596c681 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:33bf5022-d4a7-4d9f-b04f-1b5adef2712a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:02238244-7a0e-4094-bcc7-d47922ee1ae5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dac8d4f6-760c-4f72-93fb-c27d4f2de793 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:395e477e-b61f-487f-941a-01ee5adb1a9b phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e0df6e1e-316f-4afd-9483-5f221040f90a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:79bb913e-8192-4adb-89b2-c3c4ff778e6d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:52a41faf-3f3c-4f54-a467-ba88f6501529 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c3a65636-86e4-46d1-8f4f-c55ac35a326f phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6e5d3962-a804-4a45-9f49-b8c4b8a7b312 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:a7f49d0a-b167-4f58-a359-3d03a916f3ee phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2148dc3d-bbe9-4726-bc43-921693dbf371 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:c9b4c2f5-9214-4419-a6fd-1259839a08a3 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:b4166596-22ce-415a-b633-fed3d1512e58 phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:11de8280-5a40-481c-abc3-0bf990f7f6eb phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:5bb36b9e-6c77-4f92-8aa0-479c4077d3ff phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:df41555e-e4c1-4e3b-b46f-6060e33dc832 phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:1228c00b-19c5-4bf5-af23-ad68745a20e6 phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:691e777b-31c6-42af-9444-41c4e43f13f2 phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:72a052e5-76c7-4a95-b120-97272b81827a phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:e5990b04-c508-41b0-8611-f2284af87bec phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:3585ce61-07d3-4303-a472-f422782d54b5 phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31969900 uuid:0cdf591d-675f-47e5-9198-26a251e6b0fa phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31969900 uuid:15dd8993-7d79-4f3d-83b1-ee21b12acf28 phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31969900 uuid:3fc6bf86-c233-441f-9429-c25fbae6471f phenopacket.store:FBXL4.PMID_31969900_S2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31969900 uuid:be365063-d29a-4438-a133-366aa643e78a phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:cfae7c16-8254-4953-91b1-2abdd140b32f phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c16ba0a5-9d56-4117-b897-12eb65fb2e26 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:dd46721a-9451-45ff-a838-60af1f848507 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9b355228-d3a7-497a-a498-683067c32b83 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a8134e91-ccc5-4d42-8c14-02a9b4ee0cf2 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:67bc433e-3589-4028-ba73-99342675f5a9 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9161656e-8ae3-4e98-85c3-91175d091218 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:25eb020a-027d-4296-a0cf-bade070ec0fe phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6221b18f-a00c-45ca-adbd-26f06fd725f1 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:830173dc-ea0c-4967-903e-304c04047e00 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4ee1fb4e-3e1d-492b-be5a-87209b193ea8 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d9646780-56e2-4498-acf3-691311bcb92e phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ed47d7a0-3b51-4344-ad95-43d9adbcf2e2 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:87a1e6a3-e77e-4b83-8728-319c3fdc045b phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2bc66aef-4075-41e7-a286-7cca0624b656 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0baed57f-967f-402f-9d0d-628e3caa3ab2 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9a27fafc-4611-45cd-8451-793c28760e02 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e42a2897-dc37-4744-8c05-69e77d1fd81b phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:31c23fca-3fe9-42bf-8c7f-100cfa0c3ae0 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b3648038-2d61-48a4-9915-edaf62817cea phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:419cb51c-f62a-46d7-9771-099e73abfab1 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f6c3c94b-aa94-457f-b11c-b6413d6dacea phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb3ef8c0-a547-457f-83ce-68cfa36dab84 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be62b83f-9a3f-46e2-ac54-8ba5b2bf3aae phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:825abdac-8098-4da7-b751-37c1ac32f4e8 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5a9ae5ae-c6db-4ca6-aa95-cd8e2f6d0da6 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:39d3a40a-a3d2-48f2-9726-d3fd614b463f phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a7450c4d-10f3-4e59-ad51-02de2a4b37f3 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dec1a88f-9284-4373-bcef-f9ee14f65160 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dfb42911-9154-428e-85d0-a3e4f0e7134b phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec82eec8-f121-4ac9-9caf-b2ee9e98bcf0 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b431a4d6-e2e5-4fc6-bc8e-dc6f24091a76 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b7cf60cd-d427-4cfc-9995-f4e8ffd68aea phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:da3915ef-04c7-410b-a77b-d8ac774c69f9 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:beb8b5e3-3664-483d-9398-09407cc812e6 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e769ab54-7ece-4b4b-82cf-bd570aec053e phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9b75693a-5403-49dc-a16b-61ebe0b37405 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ddeff27-56c6-4639-81b4-ebed9271d9fe phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:22870fa8-493f-4614-b739-a119824f4d67 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:69574539-a469-4224-baad-fb9b6d0e5d34 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec922d6a-b3e9-4159-a6b6-5e6bf199c407 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0d7f94e0-05ac-4ead-96e8-27e1a3ee2ccf phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9c81dcd7-ba59-41ce-b666-f7ca7982bd3b phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3b2274cc-97d8-4743-b026-1869879dd66a phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:08707de0-701b-4684-9e24-f2e5b9dc6486 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:62de32c2-85e4-4ba7-85ca-b7f25a83d801 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:96a45a7e-ff7b-4a2e-9503-f0f659d41282 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2770def8-093c-484f-89e3-ec167c50883d phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:23455ec4-f60b-43d8-8042-57b30bc25133 phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:3e925080-2e12-445c-9a45-abc8a6552377 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e8971cf5-4a80-42a5-8d30-e23d35ac97bf phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:700a5fae-877b-4baf-95ca-f0515a5876be phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d3fd1ae5-dd2f-4e21-bc0c-2bad383867af phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bf89da3b-b7da-4ed5-a570-c3979fd1a8b4 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5d4ea1f4-6e21-46fe-a883-b3820a46a21b phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5f5ad792-a562-4d2b-b991-56b7b036f297 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b4be6b62-1ac6-4444-9abf-3a2a3a732ddc phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:86c5a25a-2140-4036-8bde-8c89fb6a0fb6 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:21d9891c-5ea5-4097-9a95-ccfb86381baf phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6224e635-67fa-4487-a55d-135716783288 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:600f0853-eaba-46dd-a867-7fcdcc1757ab phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:37865ed5-3c86-4b32-a708-ea6d2a39e9fb phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0c8ecbde-e274-4add-8568-558ddc6695ed phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bbab0247-4265-4d8f-93a3-4a63fec3c957 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:19aab2ed-5811-4344-9340-3766b67728d2 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a5b097f5-783b-4824-9bd1-698df1c0a5b3 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:79f264a6-370c-4157-bc7d-84dca086da32 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fad03eab-c832-4214-be7b-8b8893e9a44e phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:81c80005-e948-4411-9ed5-f5f447fe5af1 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:de8af28c-e7d5-469c-883a-e9807708ee21 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:39b1627f-985d-4b3c-952b-1eb4ca428bef phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8dd23656-8338-4d56-8198-761a4a10ffdd phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c7b12d45-1461-4046-801f-c99fef3a07b1 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:21512dfb-d127-4f33-ba19-2426215fc53f phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:feb60282-a665-4053-8535-97dde6bcd001 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c4010217-afb9-4b33-8ce2-0f8a9b971b70 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b496124e-15ca-4292-99d8-dc38a85119e4 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b309c631-2f94-4800-b554-6c22b1f6a588 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0e1ba423-07c8-4cc8-96ac-1b946ce316d2 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0f04d338-a40d-4c55-aead-9db2f10b3938 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6dd0944a-71c4-44eb-8460-9942a6591c97 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3522ca21-c3d2-4dc7-a4c8-d9b9b105efdb phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c412a5f6-2ba4-4469-9239-0eb4f32ea012 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5a25b293-c4a9-4a80-8ba8-e5bd18c475a4 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7518d9cb-7c0e-431d-b444-a30147131b16 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:aecd19dd-2cac-4612-a413-63e0f0e6b8e4 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5c9b3062-6161-4364-81d7-def1825ee773 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cec5cd6a-df24-4580-8516-17d7d053579e phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:34d6b7b3-f22e-41a9-848c-ba68f365ce93 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:78701f42-71c3-476c-a8d7-dde96a0677b6 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:44f65eae-7004-4920-813c-229916f5cae9 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6af7c310-16f9-461b-b6df-dc380695a1e4 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:12133ebb-adc8-4a73-9a3b-4dec17206a7c phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4a61d375-b41b-4c45-a776-f3a30143bea5 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4e3fb1a0-dec8-4ff3-9c25-31ea636c739e phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:68e28d62-2017-4752-b741-f70cba8b23a4 phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:8499547b-2917-4981-a051-f0434fcf89d3 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:df30b1f8-c50d-4941-9376-deceb3d646d3 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f5bc79d7-1d32-4383-af2b-3b5f3b0b9ad5 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:71cf7a83-a3b4-4699-a5e6-e1c35e41fc88 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e9cbc8c0-82d0-435c-b848-156b71044eb7 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1172d3fc-9101-4d96-9e0a-1399e8a55b10 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6ccc5823-cea7-4047-a78b-30dcc3107a09 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b6108b70-5461-4c97-96f9-fef6c9b90e4b phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef41a26a-e757-411a-9a8c-c99a69d3e3f9 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3347062e-7526-4069-8cd5-680b82cbfa23 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6b8fcb40-2378-432a-9e73-0aa87dae3b50 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e0e5389c-da20-4f92-abbb-3feac6d52352 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb82eeb5-89c6-45eb-92ba-f5a690d866b2 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:094c236f-1e51-4335-851c-0c4bf9736494 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2563b803-4957-456f-ba89-271de6a8ff46 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9732f1cd-4cef-45b5-b135-3ba6bb530b6c phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c788ac3f-8400-4964-a00f-12c54b9677b5 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7f818880-fb19-4db2-8576-a3286bcc57b7 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8579cb26-ad92-4a4b-95df-b9f7bcbf0198 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cd92c887-01dd-4c41-bb00-2351f702cbd2 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bad68bd7-7c11-4be9-805f-b64ad70b9c34 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:22f8eb51-bc02-454b-ab6e-07ea31cfa2b3 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:388d8a26-52a0-408d-b092-fa6129787aa5 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:369ad685-d42d-428c-b1cf-5f8966d61bc6 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7f52c7b0-5fac-4543-b825-ac96976976ed phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fbec7bb3-3c1e-4889-966e-123241f1f1d7 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:28b1e2ec-6e95-45c1-9ad5-d3d7533ca6e3 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:43793c00-0ac7-417e-bd61-efe6d98d1594 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d4d29b77-7509-4ab3-b89b-75e1d286cf00 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:39e1dfa9-c60a-4c8f-bf71-2dabb5f7b940 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:44d9013d-1734-42a7-a2db-5c1bd11d37b6 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8fd6ef40-b69e-4d7d-b88a-eef5c3d3164b phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d853c03b-722e-488d-8e5f-4a005cffec84 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eeb7b446-3a82-4537-9e1c-c5fd26de8542 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d14c75e0-6956-401d-a6fe-a7242fe77b27 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:30a77259-462b-4a32-8d25-722fd846436d phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4639ae53-89aa-464c-899f-d624aa004e27 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:619f00bc-d98d-487b-b8b5-0f7f998b4474 phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:d3652542-0361-4386-85c8-ec88caaddbd6 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5f1c791e-b4da-4f5a-a6d6-de36e0d8374d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:77c7bb3e-e0c5-4d36-878d-a91bffb3d347 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:808ef30b-6cd0-42c2-9f18-d5ab06bba8be phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:af2fd73c-d279-494f-af6d-8f31222ca93e phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5437de86-3fa6-4679-a5cd-cd09e749ede5 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:acf69ec1-04e6-447a-aa8b-f8027f65451a phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9fbcb992-4523-4b79-85d3-e3497295c5e7 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:470435cc-b3ef-4aba-b5b4-ed5510370cc1 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b43a4e7a-8e74-460a-9391-d810a24addc9 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c8ef8ed0-e5b1-4dc1-8645-48e64ae34fbe phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5b113daa-42bd-479e-94ff-9115cdf8064c phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3e6095ea-2c2d-4537-a45d-e410a5c7b1e6 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:db9aaddd-da92-465e-9a04-005b095e3e2d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2b06ad82-af11-4634-bd58-ee9a42f81219 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9dc90cea-fcaf-4834-8486-85cbbd7565e4 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f14307b9-f5f6-4050-b134-01957cc5754a phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:60f1435b-b0b9-4e3e-ad31-a89f1fefba44 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5b137a09-1e94-4887-8f98-08517a4e08bd phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:854fdda7-e6a0-4851-970c-f6816bcd0d56 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4720152c-13f3-4d60-8eef-4e6d81d44f47 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8d2468d5-2142-4a3f-95d9-fe94d736796a phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b1e2025a-1ad2-4eda-adfa-e616dcd78d03 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6aa399e3-8b59-4047-946a-ecf3adf96d32 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:21defc67-f804-4279-a3aa-1b5198e42197 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1506432f-e55f-4099-8636-24632c33d219 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7c48248f-6707-4541-b553-fda42d46cb7f phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef99d4bf-92cb-4170-87a0-09ee0ea40249 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ce934401-9003-4ab0-a39e-672c1fd83b0b phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6b90cdc2-750a-4ea2-b12e-fb70b6967cbc phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:575354db-d671-43d0-b3af-f09e9171af94 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8166766d-d1ef-4e58-ae2a-001943f1a76d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:77903b2c-b432-40eb-9f3e-bf600697ccaa phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cc3733b8-f28d-46d0-8a0b-59a871e304cf phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:90270465-7186-4b96-94e5-e6362b91a848 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9b0a42f1-d034-4a40-a38e-df396218d42d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c4844a30-8f9b-4b39-a546-c59f70e803b7 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:47df3a15-1abd-4929-b44d-5229404f50ba phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fbaddba7-46ae-44fd-b14c-33df50a03d13 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b3a9bbbe-809e-4dac-b370-ae90f10fffb8 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9b77e884-2ba6-423a-ad72-87b32c694c20 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a965743f-d41b-47b1-8eb4-2dbb7d0e3dbd phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:68f3303b-f6ec-492a-bdd8-0cc7b26eae60 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c8b0e3e3-2eee-4054-a2f0-c4f2b87c89d1 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27d248f0-bc68-43fe-aa76-509532bfd6d1 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:acb90595-83b9-43a5-a999-0d33909509fd phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4a50eff9-8ff5-4bf3-806d-5ec3ddd76ad7 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3d25ba71-4ee9-426c-84bb-26055f1e56b9 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28940506 uuid:9a863ab8-d37d-4d3f-94b5-0d0b0c97820f phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:6d410389-8c6a-40c6-b140-fa3f4f57ed9d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d81706ad-d01c-419e-b58a-826ada081529 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:2f58bfb4-1d87-4511-8d08-0d6e337c994a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:50ff748b-7bef-466e-a363-68f807acc286 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:e483e98e-083b-4a19-b02d-46a4fba1dbb2 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:0e6fa954-7cdf-4c3e-bf30-e0027ada9334 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:01160aa3-d6c6-435a-8e2f-ff15b0c09a19 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:5eecb03e-4f9e-4601-b651-043564ec89a9 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c579ada2-3aa3-4a7d-8712-fb74f2ba762d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4fa53f2e-3cdb-48ef-8c27-a7ea6e060fb0 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:84610764-ef0c-4334-b3e6-4dc4bfc15cbe phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:5fbce649-5a9c-4e0d-963e-227172127217 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dbe50638-c540-4a1f-853c-1b6f6fb68c67 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:cf3a4f80-37b7-4a54-9afe-969be30e860c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e3470958-dcaa-4ede-aef9-2e6d06744383 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:51d2d2bb-5a24-452e-b0b2-cba263a5f0c9 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:95ca0333-6c69-4f4d-b471-272c892a0344 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b5d24d88-5c7d-473f-9767-34e84f7f227e phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dc7ebe29-e60a-4298-9332-5c270bbe4bce phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1500c644-1476-407a-88a0-c09b39090772 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:304ba12b-714c-4846-9936-e31dce7618de phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2f9d4a58-26b2-4bcd-a3ec-bcd65e54a97a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2f83f7b0-fbc7-426f-8157-ac1c7e76770c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1ac55973-63fd-44e2-b246-f571ca4654d2 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:04770435-c585-4f5e-a445-0ae5fffd0899 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:622ffad9-27b7-4981-8d38-b4b5e1c86e99 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:cea37cda-ccbc-478d-bf9e-e28cf853be93 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:29fdcffe-81e2-4f0c-a292-bbffe007a70f phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1bb12168-6650-4778-8ccf-41ed000a1680 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f921df65-0af5-4f10-a119-79536f2130e2 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e2ededb5-ce36-4ed2-9cb3-a68339686850 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5dca057a-0222-4c09-abaa-558b3bc4a2dd phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:06236630-4e83-441a-9cdf-9550d7b49435 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ec2d015e-5e73-4012-90a4-8cab1db9ade0 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:36b5574e-f31b-4ae2-9c9a-95417bd49e2c phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:30c95e12-0d20-4730-b449-097a43525909 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2e294d6d-d1bc-4650-864c-57835fa635b3 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9a011ec3-62b4-4fb1-bbb9-e60d8e06f803 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0a79059c-9f0d-4c11-ae51-1cc21fb421a9 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f66aced9-c51d-437a-a447-e2945b97437c phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7d1f63be-3d75-4ea5-ac50-5e6b30dc9aaf phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8036b380-4b13-4747-876c-9c70d91e8c65 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c3d693ef-2f3e-4874-bd6a-9a93d65cc3c6 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9dce1c21-b0ef-491d-afad-b889ab0f99a4 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:56730c90-a8f3-48d4-b69f-869eb52fb386 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b039e69e-ac4c-4512-ba5b-735503c474bd phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:01a6fe6b-6375-475a-9f3c-14215a860fb7 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c97be054-e654-4e06-9dc5-10249fa837a0 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0739d6b1-017f-4247-b6bf-26b24579e77e phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:04c3423a-54d4-4392-a8d4-791087e44029 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c79534fb-baa7-4418-8b88-dbf1f38cf825 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:82a2989b-0fef-4ee3-bae4-9c6ec33e7842 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7cb9e009-f134-4170-a240-72d82b50119f phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:efc60e56-8c54-4b7c-a7bc-9d4f2c303904 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:48711e30-f825-46dd-b2e5-15d9fcd07bfa phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:26d8d292-69b5-445a-ab38-6c7d5a8ba8b2 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fcb0031d-99d2-41bf-a847-49697758253a phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:735c8a86-850d-4bb9-94cd-007b19cbbd44 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dc6ab4a8-48d8-47e0-afee-94ea2d9a5126 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ccc21206-c2e2-4e44-b697-acbeb56cd847 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:970185bc-4677-4666-a8e1-53e64c69e7ae phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dc2a9610-c8f1-4c83-ae1b-0c6b6530690c phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9602d339-7d78-442b-9fc1-3282a12f5a39 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef8195b9-91f4-4521-ba49-19855ad258ee phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb73afcc-a640-4440-8c66-df94b52e5c4d phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e7936448-dc33-44f3-8245-22958c122721 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a6ac10db-b9b2-4109-b5ee-b9e03356bc6e phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7f35bcb1-0523-4e24-96e4-6ecbca9e031c phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6b29640d-559b-4266-a293-8491e89d43c0 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e91233e8-656b-4a1f-a7d9-4be245879617 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b56e7ff2-218f-4273-9439-90caee9a26c9 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ee7f421-738f-4de2-9dd2-dffff91ff12c phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8f34c1f5-dadc-4628-bf59-8db0e7267c34 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:0083b250-4253-47ec-99a7-dbdb20fd7fc0 phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:3480339e-0bd9-4774-bb8a-c0515f20d235 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2afaa2d4-53c0-4a92-ab53-f1a0665b7e97 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5c4fb4f7-c038-4086-aaca-5181da82722d phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d68c9e20-9e49-4a5e-b568-e6b77820fed9 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:fb997e1a-a41b-4c25-9114-06a623e5b05c phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:81baa222-7860-4098-ae27-2a1479bc3f4c phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:01a20996-928a-40d0-872b-24480d3f2518 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:56130cdf-c644-4612-b8ef-d33ef9c17231 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:860e24e1-8885-4c14-8485-8cb3ddc81f74 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:60fc74bb-e82c-446d-ac43-8f2fc50cbbd1 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cdc4fc0d-89f4-45da-8ce9-21045ff70561 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fb16a524-e21e-4f8c-af7b-e97ce3bb3dae phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c40ae145-5450-4892-bafd-e61ce409380e phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0f3b3e77-2bdf-40d7-91d6-35c0d8a3e68e phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:086aa89c-221f-482e-b0aa-6967bc840dd5 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fc274fb4-5cd4-49b2-82ac-db77f1f87f6a phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:19a96ef2-a097-4f2e-8689-3e76639cc768 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a8b570ae-dac5-4b67-b7be-11a1bf09dbc6 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:25ecd9cb-2106-4766-be52-c26ce54839b3 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:07d367bd-cdcc-4691-856e-fda071b25e3b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6fcc5cfa-7cec-4452-9b93-fdbc817b3257 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ca346970-8807-4f52-98a7-2ff06b0429c3 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:28957419-f00d-4b9b-bdcd-ecb3fc541369 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:a7870908-d851-4130-8c8a-40e2830225eb phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:925bfeef-4966-4423-b3fa-10dabb1781b0 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5e9b58d4-6c5f-46d7-acab-abd280734ff7 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:45b7cc1f-c26f-488a-bfd0-8dc849f569d7 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:df62717c-f823-4417-9bfa-8f59808c9867 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5e50ef3a-8b40-4614-83f6-34b2bc9e3331 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:fd447df5-c0fd-404f-ae85-231d97c77404 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1f352fd0-0f69-470b-a0f1-59f8ea1a43d7 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3c915d00-2cb4-4e9a-b1ec-0aae87c6a641 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b8913db0-0abe-46ed-9dca-b47a91dafb72 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2645ff04-c12e-45da-80c3-fa729051f2a5 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b2a0e420-0e7b-4fc4-bf2e-3cdea99d892d phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:bedaeac6-e561-45d1-ab8f-1e15c6f6ded7 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:0d335789-24d4-4418-a0e5-48efd37c12f4 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d56c95e9-1b1d-40d3-8aec-95972322efe5 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:bf708717-1647-468a-afd8-bf7f8d23ff7a phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:94e4975e-7265-4357-82c8-2c49fb61278f phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3044b8ba-d320-44a2-b80d-725e0dd2847e phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3a5811f7-9b9e-4219-927c-f179c00f98e8 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e5cc4a86-140f-4d00-9cf1-32a3d2144e6c phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fb0d9d84-45e0-42e7-b2c7-4274ffd7d19b phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7c925efd-05a3-485c-8cb5-afdbfd5c839e phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:24e1d7d7-091d-42ab-b491-3a8fcb9b0f3a phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7aed20b8-3341-4c73-b7be-f30a991f82fb phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:10bbf349-a26e-4df0-b35b-13bb762cb544 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:4874803f-5b79-451f-8dd3-73ddf384d0d7 phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:f2e4e3d6-dd3b-4d15-a666-8ed4d23a2199 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0ea5eda2-e30d-4e72-ab2c-ff5b11332a79 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:295c7c0e-340f-43f2-950e-da53e257e39c phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:20d7efcb-d482-42e4-8d43-0520accc14d2 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:21a4b8b3-38d3-4d78-9da2-7eba344432f2 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:22abb403-3e9a-4ab2-ba2e-f4afeddf100f phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fa1c6164-9e01-4037-8dd0-1db65a69b466 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7e2995a1-b1f8-4db7-bbd6-6349a9a00bd9 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:715dc254-ed8f-448e-8bd0-51e22754f2ab phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:922a6c95-ac72-42bd-b8c0-a82d9579428f phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0f840371-ea94-416d-9b99-730d1103f098 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:46f394b7-76a7-443e-af04-b7ee86e0b29b phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:144683e2-31f0-4171-9b6c-6f739a799433 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:30165292-2255-480e-a195-1eeac337365e phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d7c5ad31-c143-4ee0-9fbe-6fea5a244a54 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4e0c0266-706d-4522-9140-3001f6a359ae phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0bd775b1-6d64-4269-95f1-a5af2b981e0e phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b70948a8-b2bb-4c0e-84f3-4bc86c8a35b3 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4d3b739d-a539-46e7-80d1-5324cbae409b phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d5f04e35-d74d-4826-b1c7-1e71824bb731 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:04d509e1-4583-4b82-a017-ddd97ef556f4 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ae710f23-08a7-4f26-9bcb-790c61f3ab2a phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:24573671-05d6-47a3-b9db-4ee5eb4daa80 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f11f5a00-f6f1-48a1-9785-a43633499611 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:78bbe3b1-f125-4a68-9fdc-cad2fcaa7a05 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e9e8ea00-4e31-4be5-881b-dd6f2d3d43c6 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b8f7715d-04f3-4adb-ac42-028d7edfeae9 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6a7c1c5d-a1f9-46c1-9bfb-bbcd382b6846 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f3fb1e43-c528-4910-b800-81e4aeeed8fc phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:635c491c-dc9b-414c-87e8-5a2c772ca8bb phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fbaeec91-4614-4f3c-b6d3-c17799666769 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9b3f9adb-ecc1-4ec7-9483-1bea427faf3e phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0e48aa53-88be-4470-817a-feec7c8c6971 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d83ced15-abdc-4f87-b263-165bcd507bb6 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2ceaba53-24c4-47cf-ad8a-5b48f7d7f17c phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:52a745ae-3580-4e3a-bab4-6c3204b6a219 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:08b76efe-773f-4404-9aca-6c7090706ba7 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2a43279e-e87c-4ac8-9f6b-9cce1ef527e7 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ae9e8026-c1f4-4233-a475-bcbcd252c04a phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:820fe999-4a47-4e02-a3e4-59c1b43a0a75 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e5b1ca3b-60f9-4179-a58c-3d507ec50839 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2a27c3f1-8c04-4415-a17a-d06b8c16fc8e phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:187fc474-984e-4e5c-bd4f-64c251e349ae phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cda383db-1260-43f4-adfc-e6b544597aa2 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e1a8c4c4-67ad-4714-b3de-bd6cde26f0d1 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0c1f75fc-e0dd-4d9a-8339-650541335ba1 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:13cc7b00-df26-4894-aec7-f558d30122be phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1c17286a-dd11-475f-b151-2080b78b51e8 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:bf6ab8f7-77f5-42f9-b536-c7583a7fdf98 phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:239c76cc-aebc-4691-b6a0-b96f6a348814 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:9e1ee1e7-a565-466f-92d3-8f93ba4d9118 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:bda66b68-2e47-45e8-931a-551e21d208a4 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c5fa89e8-f90e-4362-9d99-f48fcf3028d7 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b2eae259-91d2-491e-a2b2-cbedb9af454b phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ca9ecc47-0b3d-451e-8acb-6f88eadf7f1d phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0e9aa9f6-49fe-4cee-a5d6-fa1a28fb4e6b phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:76a3da78-7adf-423b-8e75-f7d16839c8a1 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:47c6dba1-4406-4230-a67f-f54002790e83 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b4ecd036-7479-4f94-8fb1-44b6b0295e1a phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2d8dc2bc-26db-4962-a4fd-517e0e1411b4 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:70f691a6-480e-4698-aa7a-62b2e340abda phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c8c1205a-4cb9-43b9-9f1c-98a31830bc8f phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:73596b70-16a7-4cf2-ae9e-e75280d21b54 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b71a0f60-3d50-4966-b36c-d294778a0cf7 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6cce32b3-af38-4635-b5bc-8a8455d9d6d3 phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:7c76fe85-590e-46d2-b8d9-3423fdefae7a phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:96a33f44-773b-4c68-b16f-c38c3ded72b7 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8ba7d209-1ca0-416d-83ea-10932770498a phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d6a0ab42-743c-444f-8510-a589c0686b3e phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:dab6a4cd-e360-4781-b3c8-a96903e87e04 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bdb4fb50-2b45-48ea-9321-ed6bf81abe6c phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a334373d-35d4-4f1f-8c4b-109b0a20075e phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d1ee14ee-44c1-4145-9f25-44c71d2e0f97 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:75e10012-cd11-45c2-acbb-ac0fa545b4e8 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2129e793-0bc7-446c-b36c-9fedd04da779 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e5e26bac-4e8d-4b06-8e3a-061d747b2a01 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fb272c95-2849-43ca-b73b-36dfcb3f1365 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1a05e0ea-d4de-4fe1-8067-be1266a95d4d phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ff418348-ea19-409c-bce1-338fc1f2dbee phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bfa5c53e-8ccd-4008-a238-fd01233cfef8 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:394d4312-2ccc-40bf-baeb-c449d2275729 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cfc1bbb2-7c4f-4182-80a5-cf6ce8654e0b phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:35edc3bc-6d3a-4689-855f-714839542b05 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2893d1d6-db60-43a5-99dc-58720a795213 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0c203008-9892-472e-8fdc-e0516a64e908 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a25f211c-e50e-4764-bf89-6f1a6e810d31 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c6c9dfff-ea80-4888-a009-3e97c666e9ef phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bd435224-58ce-484f-89d5-6c942e1e097f phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3339fa0d-2fe5-4645-9ab6-6078b2c56010 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef4c89fb-0e8b-44cf-aa21-19f01441e2a7 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:95fd53d1-be76-43af-9ac2-0191ba79de3c phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ea961288-1e79-4135-97d0-ca3725d85fd8 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:84647c06-e229-4ba3-ba0c-a7b1b4541f4c phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:af4c029d-4d42-45a8-8ef3-c46a81996f15 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a223a489-7d54-4aab-803e-6709db917437 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e950f558-60cf-467a-8a7d-233e0c53bbeb phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2f8cf439-8430-417e-8ef8-4eef9458b8cf phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:14adfdac-9716-4951-8a0d-b20aa274882b phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4cc72c06-7646-43ed-b74f-8b0d90932ec2 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:82aa0efb-b625-4b5c-9176-907dd241eafe phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8f609f06-52cd-48f1-a271-1fef272d1d2b phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5468664a-f889-486c-8803-1d2e316dc1c1 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:abfb3897-1f9b-4f73-8a18-1d21fcbfb66c phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:92de840f-d4c1-4ec9-a987-26064f7ff33b phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bf0d95a9-82a2-4f1b-b0ad-36c7f8bcb8f8 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:58d9004b-c904-42c0-969a-a700fcbf53cb phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:39da6494-d46e-4bac-a554-fadeffff2bed phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a7d041d1-e0ab-410b-973b-e2cc9955807c phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8bd087b3-2b01-42f2-846a-c2ee52781fd6 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c5b35b72-9f64-4438-b8df-aaf290706a68 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2438da62-53f2-4aaa-bea8-a4ed91d7d9ed phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:53052ae7-5933-4a56-9b1b-582aa17ff095 phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:f331d86d-6098-4270-bb2b-ed7dbd081ad7 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d54bce89-ef5e-4b1a-8599-d94c54c01364 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:325e4109-8707-44f1-b419-4a6322482c2a phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:79e9de26-83b9-4f58-ba77-cb28736b60d6 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:e9b120cd-effb-4dcb-b566-ca95e8d38e94 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:33441ff9-5cdf-491d-a526-7ddf9c4c3e3d phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d7f7918a-3ff4-4867-b1cf-92cef8993fdb phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:36f4c5ad-51d1-40f6-af50-59b4fae649d8 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:a0a4761e-f121-4653-acd5-25e1e26e348c phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d8714d04-3859-4c02-a358-6b280ee41b82 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b4441517-8d72-465a-b66a-b91230919f1b phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:815d3118-3421-43c2-a37c-9c6cdb7ea9ca phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:de16c72f-2acc-4c9f-8c9c-b310a91e0264 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:c1793ac9-d6d4-4217-8ebc-153f24b63231 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b0372416-f0da-4c11-bd9e-bd3ef8e3283b phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:023e6c92-3b00-450f-8df5-223a9bdbb377 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:6af8082b-b3f5-4760-81ad-901c8faa88d7 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:65cea769-12d6-4eaf-8bd8-0c2ed3d54043 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:008a1a15-1a1a-45cd-8e22-19a23d29cd4c phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:a4928f2c-dc4b-4b26-a44c-cd7277e767bb phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:804f2580-527e-4396-9295-bd87c93ea12a phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e00255b7-e029-4940-b25f-565df4eca0aa phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4cdd9fcf-642f-453a-a298-cf50cc4cd64b phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dec737d7-86ff-42c0-8046-de90d5d215d0 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:de5fe953-b398-4ee4-a037-037f862ed26f phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b55de680-5180-4a0f-b79f-f0d3f81cb014 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8375119e-a710-45c3-85b1-f1bf7f52d415 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9feb31a0-11f0-4eab-84f0-bb4aa6fce5f0 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:3a46b157-879d-43e1-9cff-b29fe050083a phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b8104e55-716b-4d8f-b583-0b6d76efb0f9 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:34d2172e-8c75-4843-8c11-e79765422e11 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0f4ea6ff-d674-480f-8038-45b33ac434e2 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:036788af-d207-4b35-91e5-ccc432f1b745 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:89993390-1540-4285-bcf1-c9c3c488824f phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:164a0f8c-180f-4e4b-9686-39c217d6c0d8 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:a9037981-c4d5-41bd-8290-e012dc200c30 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:637a48ae-d81d-4fef-9b3a-d0fc7fb1a890 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8cc2b76b-6540-4213-b1e3-6e1797924d6c phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:5f1ed402-991d-4ebf-977b-bb8cb32c92bf phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d5445782-ff30-464e-bbc7-803162e09caf phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9ec38519-5f6e-4b5e-bfd2-90f8f86a424b phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:74507a24-f704-4e88-b958-84ae054653cb phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7cdfedec-686a-4d5a-89ff-a7185fe95695 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:71f98531-ded7-442a-a179-895f91bbaca4 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:cf2250be-0e86-44e2-b672-7a4eabd592f9 phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:23993194 uuid:722320b6-b3fa-4a05-b90a-cbc0bc342c1a phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:f002cbb2-ce3f-4374-a6f4-693228e44348 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:5856f422-93de-40d2-9d07-493c6a869502 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:4fb65919-3fa1-4ebc-b627-75648d25d77a phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:76bd505a-2b88-43dd-9dcb-355d16a09bab phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:84eeb198-97b1-4a9c-bb44-50136442046b phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:3443b3e1-d043-4b69-b70e-90d4cbfaf950 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:34cf0567-cac8-40d9-8fc1-2fb309c49dac phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:30711f46-6ac5-4ddf-8959-2d4945e97f23 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:b211a056-028c-40b9-a57a-90cfb6fb0bfb phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:d8fd1f6d-ed1a-4fea-82ad-ccd65b062852 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:f373fab3-0507-4b75-ba35-c6c4136fcaa8 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:2edabf9f-bccf-4d4c-ac4b-c40e909196d7 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:fa486bf9-c3e4-447e-84d2-e7669299cb73 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:eb4d6dc4-e975-42c1-88ac-6eb63a3a9616 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:27743463 uuid:25bc3f21-2aec-4617-b774-0a6193a5df41 phenopacket.store:FBXL4.PMID_27743463_S8 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:c812788a-6a2f-450d-b3c7-90ff6a57929f phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:57f8927d-d16c-4058-9949-ecc6732ace49 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:59dfdf93-2eca-4830-962e-3dd6a6799866 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:b7236caa-5469-4f46-9dbd-9fa2acf93dd5 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:60268933-6afd-4622-ab24-8d6b651f3bbe phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:04501ff9-84b8-4ecb-986c-3d7e97a913ef phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:388d4c29-2514-490d-b0cb-b90ab207e1b7 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:714ad192-97f6-4410-bb06-70eec0cc67d1 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:17a666b5-05e7-44f8-95e9-f65b753c5824 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:8944649f-9263-47cf-ace7-e9764d56aeaf phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:b024ac92-f34a-4803-9922-723dd151bb49 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:348a8eb8-0467-4f2d-a366-4069f5f45a18 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:0e68b12b-1249-4b0b-9b4a-b5ccbe55219f phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:a852ca0d-860f-405c-80eb-66be45be129a phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:fab38814-cd8a-45d0-8ab0-b3d898227546 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:9bb49600-4745-4dd3-8ac1-56e5f00e2ff6 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:caebf840-298d-4451-a205-cb8db693ab5a phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:3ee4971c-baad-4cc1-bd79-70b20593173a phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:a6495724-c751-4403-a783-96556202e179 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:8d38b472-637c-450a-8ba0-88b31bedb4a0 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:a3d35c59-c5bf-4edb-8860-1fff1039995a phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:2bed2ff9-523c-47fe-ac77-54a7a8c16442 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0034648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:734d1ac9-27bb-471b-99e7-af7471815e9c phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32779419 uuid:6fc07b94-0bb0-4d7a-a115-26b437a8944b phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32779419 uuid:3df1b06e-0c42-44bb-ba30-8a911d67d465 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32779419 uuid:4889c910-4446-4e71-8e43-1122be9f19e1 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32779419 uuid:3c98d566-d7be-41e2-9a0b-b5bf4a43c36b phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32779419 uuid:75949b0f-7b31-4112-8dc0-1329aa4c2020 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32779419 uuid:2ab9647d-3dc4-4a06-8404-347cabc3f596 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32779419 uuid:640148d5-225c-4202-9f8e-253a5e7db874 phenopacket.store:FBXL4.PMID_32779419_patient biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32779419 uuid:18491612-9dc4-4b7b-aa6b-e8ed58b5583b phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:2697e49d-ffff-4ce1-a6f2-3561f63a144c phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:b99c6206-71b9-4ec5-b5eb-ec618ce5df4d phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:e42b5e6e-41e4-4bd3-88bc-68f79b19c251 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:37f2ab39-37f0-49ea-809b-e4c3e953b79f phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:c057eb10-7074-456e-95fa-d3e6c04d2a6f phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:95ca6543-e8a6-4a19-8983-44ca9b4aec67 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:cffda21b-2a48-49d0-a8f5-b9b8e9b55d46 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:22d04686-b0ef-4203-91a9-075ee138229f phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:9a7e80d9-2575-4cdf-8da9-ae462d103330 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:20754449-6d72-4cb3-8688-b060fdfa1de6 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:527ee3e9-04b0-4cad-8719-79d593c330b4 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:2d957486-0662-4b96-8ae8-5e5768a9d93d phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:2824387e-0a0d-429d-84b4-71020c077537 phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:27743463 uuid:3f181b83-50cb-4dda-a80c-399f5c6aad3a phenopacket.store:FBXL4.PMID_27743463_S2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:a0b5fd35-6bdc-4389-9c5f-8e062209c890 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3f127232-0f9a-403f-ae63-7115c604db3c phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c19da0a7-8d0e-4c3e-94b3-9f949647f2a4 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2e5db859-6dd2-499f-b805-c389441a7177 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:70e0ddd1-5924-461e-80e3-39480def6ce0 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d19ec5a5-3891-4de4-92c4-21f203f00733 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f24ce556-8949-460d-9169-55aad8a313b8 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0ebb7c97-4522-4e4f-ba37-29e010c28858 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:54b2ad45-f88c-4004-be3f-b3abd712e69d phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a8c6bb64-980f-42ba-9a0c-3b95378a4131 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:80323420-9dc4-403d-9bae-cea9ab0251f1 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fa150f7b-8163-4ae3-aea5-7a94e73f9f46 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:894035a6-de5f-4a09-9856-e41851ccf0f8 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9675b455-c368-4f9b-83d1-8e02bc0a06b8 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2098a27b-8eca-4ff1-bdd9-f1ae6d6db612 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:360eb1e7-ff90-4a93-8ffb-b2dd382b2d46 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c87a2451-ff25-4949-aee8-b596b2b8fbb8 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:58ee8413-808d-4ce5-a605-c30b7ec71b99 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e52ce016-61f9-4b6a-9a0b-8f82eac533a6 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fff597a5-2e07-4e9b-bbc3-528465420c09 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0b2dde25-dd3a-474f-8fcc-8ceb614c7c85 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:caa847b3-ded8-401a-ad8a-02a3b1dafc8b phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4298381a-83e6-454b-ace5-28caabeada23 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c16255b7-3319-45b4-b6dc-fc53b782e50c phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:57c942ea-5c08-484d-b287-4d75795cf419 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2add187d-937a-473a-b78b-dbe94863d169 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:447e5968-b6da-4150-baa7-2b49fd75684f phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7d5e5677-26b3-4ff3-9722-99a2232083b4 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c3c9c594-ddfb-4dd8-9c70-17e4b3faf525 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef015bca-4de7-4b3d-9705-dcfa61ae1171 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f0665a09-41a8-4f42-91ab-4f63c0d3e869 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:752884c6-2764-4976-b0b3-6ad08b986c96 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb71d971-a86b-4fd2-bff8-cf2cd2c653b0 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:211c547a-6a2e-4396-9f65-ead80b520062 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0c2d4c96-2a73-439e-b6de-a606086c8f55 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:68508333-4722-418b-b794-d6eda0c2f5b6 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8e52a2d3-4749-4754-9ce5-10a81be6aa58 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:03cce1c2-ec15-4216-a203-6bddc766429e phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2a4bd7a0-4579-46aa-b2fb-f956e7f41f32 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2fc7f295-8724-409e-8612-86a7ba3b7f20 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6b6a91dc-9580-4f90-b7fb-c0bf1d3cbc96 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b7e5484a-c5d6-4ab8-8d43-860c8c51709c phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dfa0b493-133f-4071-b614-aa1864f78187 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eac8392c-24a3-410d-a4e5-af09ecafa47d phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:88436293-ac4c-4b23-8937-cabd8276b2d2 phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:771b3f57-e268-4f19-8323-7dcefe3cb7d4 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d1c3f7a1-ec88-451b-ba56-f5e73f0c8899 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8df79a93-ea96-49e7-91c0-861c6437fc5f phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f195e79a-7749-4bc0-9657-108fcf6d80df phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:10ca551a-2245-463d-bf10-b3a5c215049d phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:26129311-1c81-4820-9eb8-0b07580858a4 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5a1d7805-67a2-4058-b3cd-6f8c7e41f07a phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:03772672-1ece-4606-bd81-d9e4abd61051 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fd607044-c632-4ef3-a9b6-77878e5aa277 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6335a096-b634-410c-bd8e-ed4125f38c17 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4f0447f0-f5c6-45ac-9890-e2a5a94aafa7 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:de37e67d-2c7c-4c06-b271-aa8fa5a02a1c phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bdce24eb-5f96-4fbd-9f0f-4b14b01895f1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:50b1555b-ac75-46cf-a42b-ef76763fd1be phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1cfc43f5-5843-4993-8747-af58b9c0d9e6 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:49256bee-c66c-472c-86be-62116de5cdc8 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:67915230-a1f5-479e-a00e-664dd0c21a6c phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e84c7a63-6c35-4641-9f99-790d317df74f phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0e2984db-6b97-46ef-9bea-7d0bb79a480a phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5052e7d0-91ac-43eb-983d-8446499ab00e phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dabb5463-2c87-4660-89eb-d6e7aae3d718 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b45d300e-3247-469a-8ec3-5209595cf376 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:58baa778-8bea-4b7a-875a-6920ee826d31 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:25336588-c4e4-49fc-bcd0-317961cbd45f phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e3b8d887-0189-4108-8c59-f75187db0862 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fec25242-cdbd-4db6-aa0b-d087df329830 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:325615ae-06d9-4d30-867c-cc61276065e1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:093f469d-5bfd-48eb-811b-4d199d9c61ab phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c3dec623-eccd-4264-bcf2-cfef1ea61143 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:18b0dcac-5628-4b92-8e5a-4537a2487375 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec7e9114-300b-4f57-8ebd-20057ba94b7c phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27215247-7b68-46c6-86c7-70e0b759d25e phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eef420f4-255a-4138-a058-90884684c6b5 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a52fb657-306e-4ac4-8bf1-14ff90e4a22f phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1cd50f33-d065-4ca5-8be0-56197f5bcdd2 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bb081640-b291-4dda-891d-e07b6a56c548 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:54350cff-effa-4b3b-8598-5f163dd84044 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b83afa2f-ca13-4804-958f-e0203b2a32d8 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7ac58372-5a8a-4d56-9917-372cdacd0c5f phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6532b058-366f-4160-b49c-7847cdfa5b02 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a7ed0cac-1393-4fdf-8ace-ad8e0ebf1eb1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2ae2ea73-6de5-4726-b791-a0cbac80e793 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8fa6e882-1102-4bee-aa37-efeaa6004db6 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c587c3d1-ca3a-41a9-a5ee-abea5625f2a3 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ac0d1e89-1a8a-4add-bdd5-28e7f0cb1e35 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:57d0a0f5-a2c6-41a9-8d23-304d6a18ca41 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:22c70875-911c-4098-b8d3-db4490ea4cd4 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28940506 uuid:a6a06176-4101-4efb-be04-7869816525f1 phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:c24cdc5b-a706-42d7-a9a2-d49f062c32cd phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d133a19c-4820-4007-b911-0a95d8d1345f phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:12d7a059-4181-446c-8ff1-424597554a39 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:039f02d0-c06b-4954-b7ec-bfa99d2afd41 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7d83d941-6338-44b3-96da-a608dbf8125a phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:007092e9-2e98-4137-aa13-e844f7b07ea2 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:fc07283a-6758-48ba-bcc8-418f0b5c26c3 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b2fe7187-73e1-4d25-8f71-9c51b4ac2ace phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2adfc15e-618e-445b-a655-6e9c89352d50 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f139a43d-9073-4ec3-b3f7-9bcc7ac1a15d phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:88d82408-652b-4718-986f-6855e923b79c phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:8067f702-205e-4fe4-ad49-1ce0d4c60743 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:9ec9f32e-25ae-4922-a1a1-136a65e84db8 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0619fba8-6b61-4684-93d3-af0d4b10b9b5 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fc6fd4f2-25f8-45c5-836d-de82ca908756 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7fdf4de9-8ef3-45fc-9d2a-99d8499b6df5 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:76de0150-dd86-44c1-a8fb-b4b8fb821b93 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:988173dc-c48f-49fe-a05f-d0166cc4f8ec phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:33f17c7c-8ed9-42ce-969b-c278d1647860 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ae34c892-ef56-4021-94f2-d0113a2d7942 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:863dcb34-faab-4184-b707-f4a2d1c041e0 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fa20482c-1ec1-44db-bbcc-7ffe01753bca phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1d297d15-6c99-46b6-a6b9-dcbc8299d6b0 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6e50efeb-4622-4d28-bdaa-12a60e44819c phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d8b56f55-61b9-45bc-b24d-e4d667a02bc7 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0f25199f-7916-446e-9f3c-8903a835207e phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bcf9ec78-fc82-4385-8585-53ad9ada1c10 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:eb660f35-9818-44f8-b12c-e3525997e58c phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:655a0084-8358-4052-86fb-a776005542d6 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:25868664 uuid:5429f70e-5078-42eb-9f44-75f46eeb8979 phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:75942273-bde4-4d26-a9e8-0bd3d684bf62 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e1259961-24f5-4e04-b742-4aa3a79c95b3 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b0a67788-7093-4a9a-9aee-55b9f0274dc8 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f73873db-7e7d-4c3e-8b0a-1340c600f9c6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a2e884c1-731b-48af-a993-fbf0a18818c3 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e970aea5-1c67-42a5-a75a-dc7e7716af10 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5b3d3b6a-0e24-4efe-a3ae-36caeee93819 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:51e5e4f2-208a-4eab-9b84-1ca9ca24dbb7 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2e552ad0-0619-4c19-b24c-e06093fd49ab phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ed15a9a0-84d6-48cd-a3a1-125dfa417dc1 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fe92cdc0-73d8-4b03-ad76-a7a70dbbbe60 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0a9b5675-5e5c-4623-aa93-b63848945949 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:44097348-d2bf-41f4-be4c-a1165f900e77 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4887c611-27f6-4558-8d5a-5cdaa60d5dae phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:97fae710-e72e-4ef8-aa42-0689e2fb8182 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f5e8dab7-a52d-4b7b-bae6-6100f1b76d60 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f60abcc5-8abd-4f49-bb7b-0abe673fa612 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:577eb305-1c6b-4a51-ad23-f213be6ae11c phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:49b0940e-eb10-4916-a117-02b923efd836 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4ab47850-0600-43e0-b76b-ac7a0eb8bbb1 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b035c3fb-6473-4707-bb4a-9f9e10ceec20 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:415e2bb5-f300-4ced-960d-47cf87716f60 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:69d11eff-9d4c-484f-bf64-7baf97a10485 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8bd676db-30e0-45c8-b01f-6870c287a8ba phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:daa34016-fc29-4966-a2f6-09765d0a7dc1 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9f773107-b6d2-4f9d-8727-f5408e578e8c phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7be21046-48db-4ba1-8736-7e7524ca6472 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b32da532-a318-43b7-a418-408327692bfd phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:64ecdf0d-9cc9-4448-9e7f-9ca6d76d40d6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bd5545bc-5d45-4412-a099-5d848b377e5d phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c21acbda-57aa-4b42-983f-79d83d31fbd6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9b11e02b-8bc4-4e2d-8f63-3993e0784b59 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f40365ce-081b-40d6-a73e-fc48cd6358cf phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:00d12c2e-39b3-4412-9f59-0c739b6da50e phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4ab22165-a76b-47c7-9cf3-632cc9af30c8 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6d6b1c2f-6bb0-478b-b2eb-0014b2840e5f phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4b8e3354-b55f-414b-8bd8-00f5c6e2f70a phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9e48cf73-3a0c-43c6-b5df-0173e84432ce phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4b145845-9550-4bdb-aae5-771e4cff30f3 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f52a8c10-641f-48ec-8ebc-057f75a2162d phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:90ccfff2-f471-4047-99fa-680423f1fd80 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e0f74b7c-d83e-4701-9cf4-23e5cbc5f671 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6a34c71d-9fd9-4da5-ab43-6de3efe014f1 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bdb5e4de-607a-48b8-95f7-efef7d974b91 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:52eb53a2-4e99-4fc3-9bb6-2ea4c6a8ce2b phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8cb31f0b-71e4-41be-afd5-8e61cba0bfbf phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c7880faf-3515-45c3-b690-164b49441d61 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:68bb9011-a4fa-4ddd-84ea-4c30f603ede6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c1c5fbc2-62fa-4d22-9c36-eeaee3377984 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:86527da2-b08f-412b-a33c-d4fd65b74f9a phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:00511d4c-edf4-4253-86a3-826cfb038f2b phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:28940506 uuid:2af9e37b-4d02-4243-a8a6-4a5b03ad6d85 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:01953539-90df-4068-98e1-c8bb7b023832 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:a40f74d7-d414-46fb-b69f-2ff8f8379091 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:7b746996-282e-4cd4-9d7b-5dc39a0f3e2e phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:71df9946-16f4-4971-bb33-e6d829ae2b42 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:a363b2bd-cccd-4d48-9bba-62a55b368e49 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:5606a43f-4695-4b57-bcc7-df3538a98c35 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:74835049-7312-4650-ade7-e87960b6f5b2 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:5508471d-630b-4fb7-9df5-cf7484bf0078 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27099744 uuid:51f1ae63-439a-420d-a3c8-105cafb869d0 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:d626cd6d-3181-45ae-a049-f3ac025ac5f6 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:39ce3001-0ced-4f9c-a76a-09790e9aa9c0 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:77f5a192-5d98-4c2f-959a-b52c33aad528 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:2d9ebd91-b647-473e-aa22-2cb2d8c6f367 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:870de3de-d134-42b5-983f-685fed6aa3ba phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:6e09cf53-b720-43e4-a45b-81cf0e8b21bd phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:ae5356db-bf37-4a18-9030-d3becd3d8cd7 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:a0c2205f-bc78-4114-9c64-0b4383da14e9 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:1118cce0-e73f-4f7a-a4d7-810592c07add phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:0712784d-fe73-46fe-88db-8a3d0fa00204 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:6390d32b-60b3-431c-8cfa-601e81e28e8c phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:334fef12-8df5-47e1-8c53-2543024aafe2 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:9746045c-9de9-4806-8312-b39d04af4dc5 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:558782e5-87db-48af-bdec-879574cece35 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:144afb91-c342-4529-92f0-fab2997978c5 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:c1c5465c-8e26-47d9-ae6a-e355039af0e2 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:3b8532fc-ca6c-49b2-bf02-0745623b640b phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:28cd7666-1d96-4bad-bf48-35eb67e9b3fe phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:859d53a9-b1b7-41ab-937b-494dd832246f phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:8820dc87-6d66-476c-895e-b24c7ff3d624 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:1947abb8-7585-4ad0-80d0-c11d3352f5ac phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:3438466c-9a46-4b95-b924-bf9a994f3d6b phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:d7f14904-8eb2-4545-863d-bbd1bdf5f3e5 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:2cd62e1f-b598-4908-a02e-088a6ebf656c phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27099744 uuid:3ae722bb-32a6-4f92-bc40-e101a765b019 phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27099744 uuid:21e606e8-6939-469b-919f-49631e92b37a phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27099744 uuid:9fc3a501-1d5f-43d1-b668-8f5025d91474 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:10fbe672-eb4e-4cfc-bea2-29bb8559ba26 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:80f871f6-631c-41be-9ad9-a9be9a853827 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:fb5979a1-5f97-4fc8-817a-50d2f6e21810 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:61ebc602-fbe8-477a-9bd9-0f5625783445 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b6cab8f6-87e8-4bd5-b9ef-9286434a4533 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:8b98c957-837a-437e-a6a0-ba9193cc9269 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:6ef65a9c-ae49-4973-805b-73ed66d0b891 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ac907dc1-2137-4f36-8b3b-7ab37c5dede0 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:eb6151b8-ae5b-4095-9b7b-70b08cf76b1d phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:24627e4b-b89f-48e5-8f04-ccf205311f67 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b6b46e81-8afb-4971-8395-8e65f2593b61 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b6ba062f-7dbe-44ab-829c-f8af944120e5 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:9e076666-961a-4c93-915a-68b0213d94ec phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:a7a8e297-0ae0-4fe3-aa77-b9edc182aca9 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:73117773-ca74-4638-a29d-62972faa021a phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:efeed8ea-92ec-4b08-998e-a181889f6292 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0659c18d-d7f5-42be-a7e5-a0b0ab0382f9 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1a4b5a35-62e3-4253-8175-02ef861745a1 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cb644f85-c300-48e0-a0b6-eef94bcda399 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:878188ee-0b1d-4d5c-a91a-c2a8c436670a phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:aaec9cff-a6e8-490b-807b-908204f9e817 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d6725306-9eb9-4fec-89b1-5e9f1aa94a8d phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:f8752ee1-f1af-44cf-8c55-e266137e2106 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c154fa29-b074-4528-a97a-3c8656ff4405 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b6f4cd7b-ebc2-4345-9c79-eeb75585a56b phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:62a5f227-6afa-40a2-9e2e-7f4eead96d0e phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4d04d3e0-9b60-4ca2-8453-b8373056ced5 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8415d3c6-c22a-4985-8bf4-b13ab3f3e8d6 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d884120d-de04-4272-9a35-2ad8cf102ee2 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3d5df2ff-7590-4442-8081-173f72d269e7 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:d8f9e515-f2eb-46b6-a091-0373f6920239 phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:c01804ba-baf7-4579-9f8d-cadd34891e20 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:9234fd1f-2082-4fe8-b83e-cce9b7a370c4 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:e0a5b699-2d37-4750-ad6e-c556f4d7b446 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:9fa4aab1-c53a-4194-865c-5fa342897f5c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:2f75c272-551d-4bed-a2f7-2b148953b027 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:72e927d8-0446-4770-86ce-f356d25bc913 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:5f2b3514-48a2-4164-915d-55002688ab3d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1d5d5c72-6585-4cb8-9bee-d548345321c2 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:73e0ef6f-24c8-439d-82ac-2112088fe6ed phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e2b42a56-5f3c-4930-ac64-bdbf9b9c8433 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f11c100f-6126-453d-808d-f073715be3fc phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b4312199-2d9e-4d7e-aac8-e1bc537ee17e phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:41f8119e-d846-4315-9588-b76d91a9aa1d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:41dffb3e-b1ff-4e86-9fb5-3ea41bc0ab4c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2b4cfc23-5cbf-4f2f-89cd-2c196e2b7c3b phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:04675ee6-8186-4100-9717-9a16df501f32 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:713087d8-2e78-4e11-a07f-8626560f83f5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:fab4481d-d28f-49b5-b0e0-d9434ec5122e phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dc057f19-1f41-4c14-a307-f8681848c5bf phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:756255fb-7f0c-4ad7-b346-a6457ad2860e phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bcec1f15-42bc-4aea-bb70-2bfe9a20eaf5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b66e97fe-c0b6-469e-b050-05ab1f47de39 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b78e227b-0172-4caf-a8a8-3bcec11d23c0 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ee7b9a58-6180-4bde-83ee-54968aadae5d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:910fa1a7-5b7c-443f-94a5-2c5a219fd3e5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0e58c807-1b12-4527-9fa1-66e3c961d897 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4ef050fc-4267-42d2-a39b-2e40a578376d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b1e60f1d-e255-4621-ac4c-fe53ea376976 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bbeb9186-63f4-459f-a59a-66e38c7b07de phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:46cd08cb-a862-41a8-b86d-24de7d314f8a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7b8e6bb6-beba-42f6-b7b9-67afa4a6e495 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f814cf27-3f71-4283-b267-080da4f5d438 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:fae7ecaf-b0f2-4729-a0f6-554fac1a3567 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e2726b5a-93cb-4e32-bb84-b6bd2ddaa910 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:387375e8-e94d-4f9c-a8c8-4135187eac73 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:248adf6c-890a-4e44-bd05-b27d0c974b0a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:5a2c9ac6-f651-4453-82f6-774b274b8bcc phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0dd67640-47b3-4128-bf3e-6c52a0ee47fb phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:5ef2194e-f544-4c52-8997-83fd2cc6fbfe phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:63769e5e-29b4-44c0-ae66-c3d64d5575c5 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:5c33f3d7-83b8-4502-8d68-96121741c47c phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:1c6a1916-c8dc-42c4-9748-bb400569df6e phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:633cf4af-14c0-47ff-9c02-d11ba346e9d2 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:74fe69e5-50a5-40cc-8572-92627bb21f26 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:fd41dedb-4de4-477c-82ff-fbbbec4e0546 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:73fff72f-5107-4100-adeb-544acd44385f phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:cae19289-1bce-48b3-86bb-9ca879aa3831 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:7ea249e7-644c-4ef8-9735-cefa7b41a812 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:a904b0fd-850f-4ab8-b744-9fcc98ef6ed7 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:a9e10f21-2ff0-4d0b-b22e-c01941caae8d phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:65ab28cf-ddf6-487a-9b95-e4c89ea9debc phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:1ff56d1f-85a0-4a54-a43d-a555702e7fb4 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:80cd8959-c785-4bd5-abee-c800dd827a4f phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:9f853fc3-cab6-4c7f-99d3-854208558c21 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:7385cf37-5cb7-4536-a6ab-a99c58071593 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:6d88c37c-1b39-4522-bd13-867dd6b2801a phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:3f7a7a0e-0b92-42f8-acbe-7ef0f5e8a47c phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:2a4c3ded-737d-47b3-a5ec-801d2e008d90 phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27290639 uuid:57b35677-5bb3-46c7-a236-02a83bd113be phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27290639 uuid:e4681a55-7a1c-4734-b388-c46ca7241bc4 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:171f24ad-46ea-4857-8e27-89b5f56426c8 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:d122c129-cecd-44a3-a8b8-b2cb3ffcc387 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:84a2cf8c-23e5-48fd-9712-8a574ad5d23b phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:2f4830fc-5cef-4904-bc9f-2ede77c09e06 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:6eff71bd-4a46-405d-88f1-51879fd0064d phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:f056eeb6-2fc5-492e-b9de-9056db50495a phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:3d4a7507-2304-462f-9c52-9d13f0f41c30 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:4bff41e8-7bb1-43ac-b115-f0a58b3b982d phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:f707ae5a-85a9-4701-b725-eac44bb4b5ea phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:1780d543-1a37-4588-aa83-412df829145e phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:beac8cdd-01ec-4c19-86a7-1f9f2d057fb9 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:7f9c086c-8c1d-4765-b2ab-fa2eeecef5c7 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:07809721-2ce5-4164-8791-805aaf549e08 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:123f3edc-acfe-43de-9222-8cb5289a4e75 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:03d279b3-0158-4cd3-b561-2ac97dfea1c9 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:d1ad8214-1944-424b-9200-6588e7fbde00 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:f357f15f-5ac9-4d51-943e-d742730f2eae phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:0b3bc75b-c69c-418b-bbbd-3ef785820d4f phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:7d9e815b-14fa-45db-aa42-3c9b2d2db695 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:b16897de-42e3-40c4-811a-58bb6a9a7823 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:7891b3f9-2718-47d2-b1f4-82317bf34330 phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:27743463 uuid:9c334254-fbd1-44c8-8d37-23f9255f59cc phenopacket.store:FBXL4.PMID_27743463_S1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:435025eb-b636-45e7-9553-6def1ce2b7c5 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:cb4c4c0d-47a0-4c79-9c16-db8843840508 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f80d4e95-4707-4250-aa3c-63b5606466c1 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b7a1d9d2-d42c-4e3d-ac66-b217cc665610 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:40061aa1-36db-4d89-bb1e-d680595ebfcf phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:aac37069-7374-4dd3-b5b7-56a37b549035 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:70e3306e-5a17-47c0-8a56-99095cc2ea85 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9fc47032-e04c-4312-b36f-1ea55e8e7e42 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:24b897ec-3991-43fd-9f18-7a3b2f9deb97 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e5c6726a-ddd3-4a70-b3d6-1be7cc59a4cc phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f426b66b-41d9-4b7b-a0d0-3545066dc54e phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:df06a8c9-4652-4ea9-a399-367a8ab40a00 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d2737aaa-fc81-473c-a3d3-d30ec739360b phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6befa16a-ec21-4164-b469-5c14614bcd38 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:55475a6c-31d5-49a4-86e3-2d7e0905533e phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:86bab0bd-c5cc-4023-b5ca-31082530ea47 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c52cf3a1-3a81-4cd0-8c63-62c68ebf2e7b phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2152d97a-0b46-4080-a9cb-15aacf118f62 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:40790a96-de49-40b5-9f1f-aa171d06dbd1 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e9c49eb9-ee66-4232-8fa9-46442ac45920 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8d47f593-18ac-4136-8a08-b6f25ba5637b phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec13381c-2ae9-4916-a1dd-d4df701bb9a2 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:13eb3df5-06da-4828-8ef7-57f291609ddb phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d7e4453e-ea25-47a2-b969-238405c32676 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0bf3bccd-873b-4f06-a0fe-477d99031d05 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a2e919be-9753-4471-bd92-03ce61f6a00c phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:863eb1b3-0596-4bf0-9657-9b73c7e88501 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b1f3b7ca-70f3-4274-b085-69bb0bf581e8 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b918bc54-fe5f-4124-8ec9-c9f56234c3f5 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9b0723ac-af0d-472d-9d04-9dec428d1c7e phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:06ff17a5-dfba-4d79-94ad-0ec821e66a14 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:431ddefc-94e5-412c-bb3a-3b0901f4759e phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d7fbee5a-7775-410d-9ac9-cccc732e941d phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a467263b-5e26-4d84-8d95-554f2e9685ba phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ee378123-8940-487c-b53d-3325d9ca0181 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:48bd4f14-bbbe-4973-91b4-4732564f5edb phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5bd93dcc-656b-4b3a-810e-cf730bb08968 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cf2274c3-4996-48bc-8f02-9f13f169ea7e phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3da20468-bff7-444a-a511-b2f3dab48c7b phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2fe22d9d-1d1e-4780-9020-348aa11083c6 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:99fc303a-5d42-4992-9e60-17022e4b5f50 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5e373c2f-ade3-40cc-95f7-63faf2062511 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:50ceb43f-6bef-4a28-9d7d-081e9ec6df6d phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fcb8a230-43f7-466c-bbb9-2b73c2ccdf57 phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cc6ea612-d892-461b-863b-047d1b2bc38b phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:80c68706-2cfb-458a-a8c6-230bedda0e9e phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:a864ed29-bc4a-4b3e-9482-c28183a68972 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:0400c2c8-997c-4edd-880c-b565a02c5dd0 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:e8cf6327-388d-4e5c-8190-61c958bd6ffa phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:baba4d3c-2f58-4b74-a7a1-d648aa87f6c0 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:68f293f0-ee5f-4f30-b44b-94d322c20779 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:d1f5103a-e22b-4032-b6a3-d67e52e95521 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:4d590bd1-a7b5-486b-9866-4b781adcc4b6 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:6419b642-3093-4de6-ae1c-353e8d73c384 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:318652e4-3187-45ae-bca5-ceb83574dd07 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:f92d15d1-7921-4e85-8fc0-239ae610faef phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:cdec4d76-881d-4133-99b3-e922fef98354 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:85076b9e-8934-4836-80bc-a3f6acd8f71e phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:bde0f856-2bb2-416b-81f1-ccfa32fb8159 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:0793289e-9a13-45bd-a267-ea63f5fd00fb phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:c7b966f4-dcdf-4c6d-b82c-356e934442b8 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:fdbe645a-3f69-4d20-a4cc-a810fc5d9541 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:8a7ef305-bf02-4d08-aeb9-f6e9302bd5f9 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:9b157af2-b59f-42a2-b0d8-963f40035a64 phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:27743463 uuid:099d11f4-ed27-414d-be85-74dffe459b3c phenopacket.store:FBXL4.PMID_27743463_S10 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:5752ba87-2a0a-4507-8305-57707cd69bf3 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:e38d4db3-7a20-4e27-9a83-905146e75f87 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f25dc386-0726-4ff1-83de-b0b9194b9640 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d3adaf31-e61a-4a7f-8206-250554ca0ccf phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:96d7b9bd-df6f-420a-a696-d8ff7dc57cf5 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:08507098-6e9f-403b-8808-4326d7f8a5f3 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:abeaf663-3a10-4867-9a54-03e85b34be99 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1f892dbf-1345-46e3-bf34-1ac9bc7e9798 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e888b597-3c68-47e0-9d3e-569c0df5337c phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:14fbc618-fb63-44f3-b042-12cc37093ec5 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:9412229e-8b4e-4d49-ab00-4a5a1f4d40f2 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25868664 uuid:defdd636-f9b4-493d-bc73-ed38b6182033 phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:23ff49b6-bc7f-4232-9103-afd868224d7b phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:15aacd9a-a89c-4aec-a51c-d572fddbe02d phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:30617758-20e9-45a3-9a91-29cb3bca66a9 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:dc1cc285-317e-49ae-940f-ca43c46d0426 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1a8c187c-30d8-4df3-a384-8acfa1b14346 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e12984e5-232d-41de-8df3-784290d421ee phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b776b0b5-7605-4af8-97d1-138a46d3df8e phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c19fd1e9-7467-4b3a-88d6-bebe13d3cf9f phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:571588c5-03f9-4c9d-bb6a-17053f067c60 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:96fd5921-532a-4cbe-90f9-28fabce1da93 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e99456c9-a38e-4a39-9920-2b525699b266 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9c50f35f-8b8e-46bf-9973-e4783a03bac7 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b94f571f-7c8f-4533-921d-ecd84881c17c phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:90bb7f59-d1fa-4d5b-aae0-453405ebb686 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f96b540b-038f-4190-a22b-46ce4a395f8b phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a70392fd-d842-48d1-a806-d375684fac9e phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2d472ccb-d32c-4af8-8006-cdd5b34dc4e2 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:183db220-c9f0-49e5-af34-6ff834ac7f12 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:830d2bea-2dd0-4323-8c7f-fa78a45c2c1c phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0e624892-0b0b-4b6b-b9c4-c8ef9117055a phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1e0322d0-18d0-47b1-b2c0-aca6122d3c79 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:592a8c2e-f139-4bf6-86f0-6bd3965a9512 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9a1087a9-2e2d-42ef-a813-a6208952b82f phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:baf37089-f943-459e-bfc6-2fcf5338d934 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fdc122cd-94fd-4f52-8415-bb01ca342c07 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1b1c159f-c9e4-40ee-b4b0-fe6a6b1a8dcd phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d518c968-cc78-450d-8c9b-fef6a0798a81 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:174d4eec-9bbb-468a-a4da-1c2fb5e2d270 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d30dc874-9747-4c54-a55e-65aab9751887 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4cf3e943-75b3-4a9c-b456-2ab795a8b078 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:badaf0d2-fa66-4522-ad5c-d541fd228dfc phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d1e576c9-13be-4243-834e-1d5a3baf3810 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27af3bdc-0061-49ac-ad08-025832ef4044 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e1adc161-7cb2-4c77-b558-3a36c886647a phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fe13b50c-b46e-450a-879c-c670d408c056 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8e160c9a-763f-4a45-b9a4-d806d9ab7c02 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a97925fa-5e26-4aeb-8d2a-298373c03f89 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f8a717ba-ba54-43e9-b3f3-5b44279f1f91 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f02b6212-9f81-490a-a99c-d95c307501ce phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d12918e2-ad61-4349-93f1-8fe935464aba phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:543f8149-fc2f-4778-9a4d-7118ab92dd18 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bf89c0bc-aad5-409c-aed2-9dcc4c49736a phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9737dc26-004e-46c5-a920-4e0c0e70609f phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:62899f60-4e1b-4da0-8c4c-31a53e2633fa phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:00741156-94f0-4534-89af-a89d1901e3b6 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:9b68a465-0092-4ce7-ba2a-cd9ecbd733e6 phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:c7ac03ed-b008-451d-bac9-9d849bf4df35 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:37426afa-f9db-4501-b21a-2f11dd596ffc phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b30dcb9e-ed24-449d-aff5-53bcaae1cfcf phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2e1cbc9f-9bcf-4eee-8e21-0d68a564cabe phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e51316e3-c7a1-401a-93c1-7ec269b58e57 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a990608b-25a1-4f36-9e65-10fc9dbf51ee phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:79431dcf-1962-42aa-84b7-2e14f921d7c4 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f39f16db-a765-4338-b0c3-da3dca5df0be phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:87c410fd-16ca-4dd4-9c5c-76968e03ecd2 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:87df110f-f3a9-44b6-aaf1-c157ffe997af phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:039bddca-6e19-4771-9fe1-99cf17d3289c phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:621c5dfd-3f11-4ef0-827e-b4ca849c7bff phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7c34d261-15e9-4fc2-a56d-f803d817f5a7 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:01558050-e839-4473-9db9-bac946e5ec8e phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:900ae4f2-b975-430f-be43-f4f24e64370e phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4d6d4894-7c4a-4d8b-a5b9-848b654efb3d phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:af0d4a1d-9a94-49d6-bc82-2cda925a8dcd phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:014d4e59-65c6-45b7-8770-7774675e32c2 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:97992363-7006-4f93-b734-586a5bb2f809 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7434cce3-f211-4d99-9283-4960f44336dc phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3ec138d1-9aab-4862-8610-c175ce816405 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6039ae71-d40e-4884-a498-b21f0ee0c478 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2bb36da0-e9a8-4340-b8a5-2d5279d910ba phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3607b293-23a3-4ef1-802f-74b353514462 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d011a0da-d8a6-4a19-b9e1-094fe11e65e7 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:77827a5f-b7b6-43ee-aa49-870029d554fc phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cb7d133e-5afb-4a9c-903c-b61b47f783f8 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eeaee7d6-a609-4d69-89bd-4ff31aecdac0 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:41216e7a-e8ce-40a9-ae7c-313c8f82712c phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:074a380a-8e72-4a8e-add6-083bafb0c90b phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8eb82071-498d-46a5-ba11-81e4ab2db2d5 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f29a88ae-02c1-42de-b27e-e8114f0c791b phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2834b04f-f14c-43bc-96e2-0fbb5afa6f2a phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:48093526-bf2d-4acb-a928-492122edcd94 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9afee223-cd87-48d2-a5c7-4d0dfd878350 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ad2391ec-3907-41e2-8b6c-6e8db81e0872 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec45605f-45e4-4370-8c6a-ccd6e9ee63ea phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef4c2b81-aa99-4050-8d0a-492afaca02b6 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7e112a58-8b1a-40a4-bdd0-8c1c9099be9f phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ad0ca9fa-9491-4ab9-a016-874ed20d9e9e phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ee5a2eb7-8e04-41e7-ab1b-4a7bf91b96a1 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a0f397e0-0b40-4870-a886-eebd2c410ce4 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:58f8b475-a3c3-4f97-8d5e-809764e5f97a phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b048bb6e-a2da-47c7-9cde-b4ee80bc6a6c phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5d2f36d5-0937-4eeb-9af6-84b7a8d42872 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1b134fa6-3cbe-470e-b300-f7e8b6b3f9ce phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:151512a5-525d-41ee-a348-c9f8b046193f phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c25a892f-681f-4c6d-ae23-513065b4d55a phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7cfb8163-2670-40ad-8b85-7ef17b6ee035 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3eff3b30-c428-4903-b0ac-4dc0b7d94094 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:195c725e-27db-4150-9cf4-ee28e313cca8 phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:63c1dcb7-641d-420a-8b0b-18612d389c79 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:25aca54a-782a-4a19-a810-3bc2051e6c32 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:e16d17da-35a4-4a87-8ec1-4ce9fce38012 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d9844060-720c-4a7f-9f2e-4044de1ab455 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:de898279-b5d4-4cac-93f9-a19ba09cefd4 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:4f2f8619-555b-462b-b1d2-9ff114e721ec phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1ccfbbe3-3eac-4dac-9a94-c7823200aac8 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:28b4926e-094f-461b-88a0-28079c4419e0 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a5ad6339-33ae-461e-a29e-64f70de69349 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:90272db2-7de6-4404-bfdb-825528c33324 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cadee513-c9c3-4081-aa3a-3767a4880f85 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0188c4a2-73b5-4d22-83a9-83395266ecdc phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b27309ab-3b29-483b-b5bc-0cff512d5774 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6af62817-1fc7-4086-827b-94f8616eb9ac phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:9462317c-6470-49ac-b78b-6f289f99aa74 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e43b1aac-af3c-4ac9-84c7-6d7c20328569 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ae40cadb-0612-409b-baf0-d33c4a079135 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c3a18d6a-bf8b-4708-91d8-14fcac5a6154 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:72e74ac2-3297-4a9a-a41e-7ebb363feea9 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b7890b0c-aa72-4023-951a-46701bc226b0 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:76523791-ab51-496c-931b-e2a3ebca04a1 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d6d7f453-6ece-4f9a-bcef-656c5e41b2d8 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:59cfe115-e19a-45ec-8f76-06a3e2f81a66 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:369ed35f-5648-462e-9091-22b69531d7e4 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b22ead19-6e4f-4009-8e22-144e53edc0db phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:7f66935d-b3d2-44f4-a380-68500ce4e297 phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:3295473a-3610-4335-a467-a35fa46504be phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8c2a910c-5b7d-4793-ad99-e2f8bbe79d38 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:05f1f619-ba9d-431d-94b6-95ef23e23a34 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:32451062-57e2-41a6-b431-aa904ba3cddb phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:230d7aaf-cf6d-4799-850c-e298cf9a5330 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:de351762-ef72-4789-917e-da6037564da2 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1fc0a265-aae5-4ae3-ba5a-0e1b5f1d68c0 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:15f9c5b6-2166-4fdc-9b3d-5d86359c23f3 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5a57db91-e982-4aef-ac16-e0c125891df7 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f6bd74e7-dd6f-46cf-b158-3cf6d7418df7 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9ddae976-aa93-43de-acd9-e36c67821fee phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0988b947-50a2-4803-ba5d-fac72d55c321 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:93a5e411-a403-4083-8664-31cf02fa3483 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b449e098-ad40-49dc-9234-582f95ce924f phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c77376ad-c1a5-4914-848c-d339ce9362a4 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ed1e9648-373a-4e51-a995-50ccc85d9196 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:961e8e19-ac1d-4de2-8263-77603db3f620 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6cfb0f05-29cd-4def-9348-00f2527acea8 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:84fccd76-f65f-4022-a45d-51c618472363 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7478de05-15d4-4924-a0b6-e4ac18128ce7 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a7606ad6-5bf5-4cc0-8896-704eb95d8a00 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:10f83329-60b7-48ca-b72e-039711a53f51 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8842bd1f-70f8-4dd6-bbf0-b985b359015d phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:aaa74f90-6ec9-4fdb-b324-aa1e94a65100 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:af8acd9f-e1d2-4520-8be3-7a2099432d2f phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:10ce1c09-ef9c-485f-bbfd-4dbc140e7a29 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:57777052-d1a9-4987-b8a3-56d24c78f233 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b7a17e65-c870-4ac1-ad25-c5fb78b9c2bf phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f2750bf0-740f-4c1a-9e01-57973f7bbdf1 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27ae7c9c-e65a-46ed-afe8-17f5cc6096c6 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:acc32597-9ba6-4f46-9e2d-a6fc40104af1 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:baf2f588-c755-43d4-ae8b-ce85fa03cd57 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4b5500dd-c0c8-4fd9-ae73-84a962b0fe17 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8a62f509-fd1d-43b4-8633-7cea7152a48f phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e466eb38-4bc1-44f6-8c22-028207e50b14 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d0844391-c835-490a-a0bd-fc2b75798cf4 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:003b7c6a-5b6d-41b1-8b21-8a67cfb7ded0 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:96339e68-e77b-462b-b5e4-6585cc93ba3e phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b69094a5-19a4-48c7-94b9-f23dda46c0d9 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b644fb08-2c0b-4032-86c4-e26044b7d108 phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:48dfbafc-8d89-49bc-8d83-2f8a0a9b6aab phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a4049e8f-0e0b-45a1-9276-1b709830b3bc phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f842da9c-7267-44e6-991d-52b2e94f291c phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:277a5311-dcf4-489d-930d-75d61958802c phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:1854f2cd-f5fd-47b1-ba82-0d45bf4ade09 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d56f9ef4-f563-4952-a6dd-98b00692d78f phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2b96c884-b7d3-46db-9b0e-1c464549d16d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6d9934fd-8a1d-4fd8-940a-ccac9be51074 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:dccb38d3-e31e-48b1-8adf-8fdbc469d6b2 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:011e0b80-f12e-4d4c-b0cb-7bce52806032 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0ce6064c-7f49-4a13-a26e-fa3986a04fbd phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb39ab83-702b-4b40-9d69-2285158d053c phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ad302cd-b83f-426a-bed5-21b29c03e997 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:340be80a-f928-4f95-9e27-0329c578a5a2 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d4d31320-bba3-4241-b301-f37970d4b0c2 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8be4c470-fe89-4738-a6e3-a23a358aa2f3 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b801ccd1-ddd9-4a5e-b437-389527bc4f57 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:47580fa0-881a-4289-94a0-59ef5b16bf2d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:14eab69e-ccde-41e2-806d-8f51a2d3bcd7 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ed00f996-5207-4436-9a86-a88a3e56ead2 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:65bcf0b8-f4bf-4297-90c0-46759c11babc phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1f4acae6-0fb9-4148-a812-043fffa80e33 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e6991e4f-3cf9-4afd-b716-4b34014e01ef phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c84bcb2b-e9ee-45b1-8e61-c308ad74ec3f phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:06a31b92-515e-4106-b0cf-b083a9de9067 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:af1aa460-caf2-4c8f-81f8-3200a686a6a4 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6c283d63-eed6-421c-969e-2a447f56edc7 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a513d9f1-f442-44a4-a375-8c81f0e0cb35 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:86f07855-6949-4418-a9c3-bcb902f91631 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:03c5f65a-c38d-4c27-950c-3b8b6478cbb5 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6918e4d3-8b68-4d31-885e-dc5f575bfa84 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9a2a8186-56f6-4d9e-af64-b1e547330afe phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:39998d8b-5d1c-4475-ae4c-132f3bcfae89 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5225696b-46f1-4032-a0fb-47593020ba91 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a6175987-646c-4734-9b67-4ee700405e27 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ee1d24c0-cee1-41a8-b747-ce8453366971 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b2bf27fa-e94f-4a61-b69d-c31d857baad5 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f9e4ca1d-d55b-4f49-b734-6da10f3ad893 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:51206c39-ab1a-4fd2-b793-643f61e4de69 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:40afb8b5-5de5-46da-bcfa-d3c733edcec1 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7db658e7-861d-4edc-9d9c-7021c0eb5d78 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d85d870e-9757-438d-811c-2f8bc8b80cfd phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ce8daa8-5811-4048-aa9c-278ed545f94a phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:baddbbc7-7574-4822-93c2-cc4d0564ca2c phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:322244fd-a909-4e6b-9c5b-f95f2abd3fe1 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a062b17f-e246-40e3-8435-5a4b087cc4b9 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cdde1eab-a243-4b43-8871-918175f08d93 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ea9d0f0c-0969-4d98-a669-f068752b649d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:19568269-7c93-47c8-bd45-73e5082a1803 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:1db002d8-4b75-4415-8048-8e3d2a3d59d2 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c178f3d2-ee02-40ab-9f93-4b097ba35bd0 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3a010f39-f1f3-4fd2-b610-e47a5049a410 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:49e8699c-9b52-404e-9d22-13e2b77d7bf7 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:842204bf-dc4f-45b2-bdd7-c6f02c2bcc4f phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:39fc8897-8a1e-4ec7-b414-eccd994a72f2 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:94a4e962-1608-4494-8d03-d256ccecd0c4 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d744fbc7-24b4-4b4c-9cf4-bd4a73c6c051 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:dcbbcb54-f593-4ac2-ab25-3b9943915bd3 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e5241635-52e4-4c0c-9b3f-243a94add1d6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b94f015c-6136-4452-9f45-a85e39c1439b phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5fdb3302-6f39-4ca2-8687-c285213157ae phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:465acc96-00d0-4db7-9b25-d96e04a2765c phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:472605fe-9832-4a9d-ad1a-7dd1bddba6c6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:393fc870-9a17-4d3b-a1f8-a699976bb3ee phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4013be89-3e00-4610-b015-9242e7689ddb phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ac53f59a-6935-4ca9-aa1a-a556b7205ce2 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ba968981-490f-4787-a96d-428041ed60a2 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1f4629db-7bc0-4bcf-a441-dbd970a9d65a phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:69f95e6f-3a13-4739-a022-7e38c38a55d7 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:11a49364-901a-4e86-816b-77611b8b3bc4 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b3b6d911-51f2-4717-a67f-58977885968b phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0768771b-3223-413b-8b34-ce78f0f2cfa1 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0326c53a-1642-4664-863f-8f6f01d0b1b4 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eda359c1-3732-4ca9-aa1d-b9a9a85b4f6e phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cb546f08-f443-4ab7-bad0-1398eabda7a5 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5b14c47b-3111-41d5-babe-dba4e3b6f182 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b62f30c0-919b-4d93-8636-97fe954bf864 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:770b37dd-c6b5-4f04-9fc0-d4265bd9b1b6 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d0b35a1a-7fb6-4c12-9504-e0baf0df4cbb phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c9765a10-bb59-4820-85a8-ba2a34a83b31 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:50ac5e10-3e56-4ff9-94f0-f04b6eee62c4 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec3a23ae-f6c5-4437-b8f7-38ee1c8d9b49 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:339a192a-1bee-4a8b-b866-c30754713e89 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2587a8e2-24c1-4e09-a260-0dfb2cef5f48 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:70bf0360-7c03-4ba8-b216-aaa3b2350272 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:578d1884-ae08-48ab-9d32-a43c896629bb phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:13544bc3-e978-4233-81ac-6738b25ca998 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:190e3e4b-6917-4ccb-9bf2-4a13e31fea7c phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:28287232-75f6-4019-9dce-3dafe5d51938 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2ed58643-c787-4e30-b685-76c62fdebbff phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:afaea8a4-e3aa-4bdc-89db-b4560c64e8fc phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8196f646-2099-4b58-8ce5-c3d06f9b08cb phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b778f492-a88f-4639-a3eb-0a3e8c90a07d phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4fd8d841-ba5c-4c73-b7b3-3da5d4ee15df phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b691dec6-8fdc-4f02-8885-b26698647658 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3e66602f-6884-4246-a646-5f67b7397c8a phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c41b67eb-f1d9-4b88-8374-ad905bcbd09c phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:21c8c6c6-b54d-4d68-8ba9-f84fb97c2d18 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be44b570-93fa-4fa5-9dce-ab43f2cf90c0 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c735db8f-f675-4ce1-a0ce-622f985844aa phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:29a6f356-4dc1-46e6-8198-296b12959b38 phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:28940506 uuid:23d7c517-4f7c-4d7d-a115-327b57f03dda phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:7b30797f-a400-40cb-8cc0-5b783b328744 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:2ab09975-9760-42c3-abb5-8bd60ccf2855 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:d1a46ceb-a0b9-4335-8421-69d9dab22d22 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:999518a0-aabd-4486-8b61-a9652da0e63f phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:9d5cb514-3623-433b-9ad8-7329fc42a978 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:b0cca96a-7736-4046-b486-28c1f32d5e8f phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:2fb09aaa-e61e-4fb1-8431-f248397c2010 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:d1f73684-eb5e-47b0-9272-9aa6fb13fa08 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:8dc76070-0091-444c-830b-220d2304aff9 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:2fda8914-87d0-4175-be40-ae37ddf8c1b8 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:a013452c-c30e-41be-a9a6-e3850642b1ec phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:9d04f04a-0b81-4eed-aa5b-146b35c28b71 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:32da1cee-4fd2-4e71-bbfd-975df861653b phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:26c6322b-97f8-49be-bcb1-7eceee8e8153 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:46b6c7b5-87fc-4931-8549-f577c52366d1 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:a920f90a-dbe3-46a9-9eaa-28fadbdbe626 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:c7c3a42b-5c15-4c16-ad1d-7e33714445d7 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:ff7b76ce-fe39-4198-94db-e4bb2c9efd80 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:c54bc36a-df0a-48da-8bff-a1d818da1151 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:ed41c9c4-522e-4da7-8e78-7f924c65c78c phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:4fba88b4-a62e-45ff-b643-50d58ba6f962 phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:89a3619d-5f6b-42bf-ba89-6609da351c8d phenopacket.store:FBXL4.PMID_27743463_S3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:cabdca39-0e4e-4769-8904-9e9391fbe5e9 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a545964e-889c-425a-adfd-d73bc58700c9 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:798750bf-79a7-4926-ba79-a7db2252355d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:672e08eb-070d-44c0-8661-4ec2e60fa791 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:602720c3-d02a-452d-b04b-c692160ba55b phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:25238544-3bc6-4479-b034-14854873152d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:03bbe282-2fd6-44e8-812b-65ffcb37f919 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:61d2719d-b1c2-4435-818f-b4132680c387 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a64f12bb-2e6c-4f1d-8f73-e9baa34f45b0 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1da2cbc5-1ee3-4a74-8319-0d2eb69def96 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2104b64b-405f-4a95-addd-f187f90c7e33 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:279641f6-9b5a-471d-972e-efb598e9f225 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7959476f-4c18-4617-86e9-fe2411e6e49a phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b37957cc-d089-4ac3-b8c6-848cfebc2b2b phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ba04c219-9e56-4146-9651-0b5b7b51dfae phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1b77e6f8-3c63-493e-a35a-e8bda4404926 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:44f7724c-bf87-4604-8398-79089fafd378 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b8aaa751-c64b-4e87-8cac-b84318123de2 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a71c7137-6365-4277-bc85-d14123222ac7 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ee92c466-f171-411f-9ef3-5c9c325b42c5 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1a9fdec3-21a6-4840-9715-5e92dc90dc71 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:15e57a0a-8647-4e9a-b0d7-85807b695979 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5f20abee-e0fd-46c7-b369-ddfda16d9fc0 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3c4e3078-3731-4a1e-9e85-41d20260998c phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:80583bb5-9b01-48b2-a7e6-cb6291e02676 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:31d9126d-7253-43cc-b349-5477347d0c8f phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8ea6e2bb-ac27-46fc-b3f5-493733ec39a6 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:489d1ccb-5e71-4c4d-b1a9-9bf1eac5cb9a phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3df791d0-447a-47c0-934e-e4ec1b530a3b phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b4ce68a1-26e9-49b1-81bc-e5c3be11f24d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:97daa309-ce30-4a69-8751-6416792903e9 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e7d51e06-1181-42f1-85d8-7f01575778b0 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:52a3497e-8e13-4752-b6c1-2ed0af754d1e phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7a424988-ac75-4a79-a6e8-e84efd170752 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0b9e1d79-7320-4669-9b2d-11c3e125b418 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cbb32b3c-22a8-4c0c-9d82-db737ff263de phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4f402267-0c96-4f6f-b59d-131c6e31a2ed phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a80d463f-10a6-4325-be2c-2ace666d7336 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f731f06e-513a-4c91-b0c7-22f4d314ee93 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ea96cf2b-465f-4d6e-bb52-a072c43b8e60 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e2888ea2-df79-4062-9336-56fbc13aeda1 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9e4003a0-3614-4062-83dc-f90df45dc463 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:28940506 uuid:87ecdd0a-9e54-4166-a0eb-37a52492a681 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:93cdd870-4b15-439d-9024-c600035b8545 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:7cab049a-f4e0-404e-92dc-eef2f04e0cff phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:c506b7d2-1831-4843-bcff-ea29ed0721d1 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:b4526194-f87f-490d-8f2e-aa1290e9bc94 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:df30cc3e-1938-4ce6-854a-508d48ee7d5a phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:41c0fdd4-d35a-46f5-afdb-0803ceb1608b phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:1a529452-d2de-408d-8867-dc41c76aed58 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:7d9ab039-0e7f-47b3-8714-062f9a24f855 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:19381125-d1d2-49af-9c5d-6ddbf9ed691c phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:435c543b-dc68-4b9e-a0e9-1ac87d92fe36 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:55283a95-2037-4d64-8d11-dee0a3d720a0 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31969900 uuid:55fd6c3d-a5af-45c3-be13-7972f3d77533 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31969900 uuid:0309ad5e-6d15-45c2-a4af-aa258b33a455 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31969900 uuid:7ef359d1-9bb9-4a3e-a129-03726e0c7668 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31969900 uuid:d65cb21c-4c79-4f1b-8480-a00ffec2e521 phenopacket.store:FBXL4.PMID_31969900_S1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31969900 uuid:68bc2baf-15ee-4b05-b2e1-b2cc3d7a3edc phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:05c3aed6-ced6-4cfa-a28a-d057e4d0cff7 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:cee18a5e-8041-4181-8206-fbbd2e6a3713 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ffebae3a-84c1-4380-a399-652cd8edf56c phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d2a29030-7ebd-4267-b868-103ad8129ac5 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0e63d38d-b0b0-4e53-97d6-c2ba0a107d63 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e0e20535-2391-48db-8356-2aec26768f8e phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fa31349d-243d-4a80-8311-3c546fccbf19 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:202a804d-6609-4d14-a264-7f418ddf27cf phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6c0e6062-05df-41d6-8014-bb57cd938272 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b9e7a99c-413a-44c5-b4c9-ff06f2462a8b phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9c29c5e7-8493-4212-8cca-34d2ff928af3 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c40a4fa5-bdc7-4b87-b208-90097bfbc095 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:57d25bb4-8f52-4405-9e54-7202de70b97e phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:03326e77-df04-423c-9683-da2568e04769 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4489766b-cf1d-4f18-a4a8-d1ccff412863 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a8166c30-aac6-4fc5-8acc-54348be8e3e0 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:673bacc6-faf4-4c00-a0d7-a7e24992ef28 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7750c0f8-3276-4662-ad3d-8e59ed9110db phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a30fc636-84c4-45b0-8cdb-3c075b3f792a phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b8db781f-22f7-4dc9-a48b-562db93e84de phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:76eb2caa-5e77-4b17-b921-463a38f2ab6c phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b6f0df47-5e7d-48cb-848e-cbb00d581fc8 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7d151fd4-0ed4-4420-afa7-c5dcebfce3f9 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:280d8dac-7991-47d1-abb7-f05f55b7ac6b phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e60159fd-b866-49f8-8e44-6e6b85bee726 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:87c1d479-9426-4e51-9bc1-495106a570ed phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:70e4e5a6-5dd8-4274-80cc-4a32bfc7d729 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e8f7aefa-3bd6-4dc8-b21e-c0727647dda3 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:99584bcc-d5b2-4c2d-9c21-dce9f7511e6b phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:276b1322-23f2-4b4c-8e00-9812bcae5042 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9f98af3f-0e45-4901-9a5e-d8b70bb649c5 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2700eed6-a985-4575-bb4c-64b25b0d8f13 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:afe4bcfc-07ef-4018-bb98-d97c2ed5af06 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4bd1d8eb-da37-4256-b721-904a11a71605 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be6c35e1-bc5e-4f9e-a630-3bb21a1f63be phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:96d89ad8-8bed-4a08-9185-47c21153411b phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9ca56647-3614-4699-a277-e05392a14276 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f2ad7493-66f2-4c0a-995c-bc6f0618ce91 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dbeac27f-c0a6-454e-b3e2-79ae10ba8ade phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bb046ad0-e8e3-40aa-a149-78d26c5a623a phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8546fce1-5da5-4123-b162-e09d16d91854 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4694515c-11da-4822-a19d-0d0c074297f0 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:84a7c54b-7ee8-4bb8-8a2d-faa391ee0164 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:37c4bab7-909c-4469-b717-849521c60250 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:56b5f797-c979-4c59-b673-c61dd2c39228 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:394606e7-15cf-49d6-8dc5-f631d5e4bcbe phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:2dadb786-de1d-42df-8eab-1ad66f688236 phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:20c16688-1a5e-4b4c-bb6f-610fcaf1011d phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:30804983 uuid:be1e4061-eabb-46c5-876f-80d4bf5b6807 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:30804983 uuid:31c9fc2a-dfb8-4610-bc64-ef2990d645c6 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30804983 uuid:5f211a81-9fdd-4f16-941c-c1f325e14a31 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:37eba291-5f16-4e8d-a76a-7649935e55e2 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:d2e26de2-2ede-4541-8a4e-f33f65dd95b4 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:df4784c3-dd7c-4ddb-aafa-eedabd310b32 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:17d8d150-5590-4bdc-84de-35d998d7a5f8 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:588c0793-2136-4941-b719-dd02b1a502f7 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:8be3d238-7c79-4d9e-8f7e-b2d4f7f6de90 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:32512ab2-435f-4bfd-84e9-62c81091af84 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:8eb0efb8-e174-46b5-8189-c6c5c7a849d3 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:f24cc01a-a42f-4254-9e36-ca6f994c7d56 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30804983 uuid:c2a91f30-42d3-4e8c-bb97-a15fcaab4742 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30804983 uuid:61064821-0007-4244-b4f9-4c853c967ad7 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30804983 uuid:c50fdf90-0965-4937-be31-3292854612c4 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30804983 uuid:86b72a68-ce53-4149-a93a-508c95152cf0 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30804983 uuid:ad9891e0-9b5b-4daa-9636-e7d743f560ab phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30804983 uuid:31ed2aac-cd13-44d7-972b-5afc91442906 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30804983 uuid:de04ecf9-7a45-42c0-8fbf-fdf7825b7226 phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30804983 uuid:ce6a4611-f5ef-485b-b3db-ae971b7c7ffc phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30804983 uuid:e9eb30d7-77ae-4207-b3ec-e2d0be45607f phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:8064cbb2-03c7-485b-b89e-b85d5c9a6a48 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:031d0924-6499-4949-a8ea-9cfba5821438 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:fe88ae56-d211-4ce0-9d0a-f9ba08dde369 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:3ecd455f-5a7c-401e-b79b-f843e7452d30 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:32b5610a-eda0-4aaa-923b-c03692cec162 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:6ea5bf6c-a054-4ebe-a023-ba0ce14c5c8a phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:7403e45a-a81f-4671-ba74-d6fb00f817ee phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:ec911b2d-1932-4bb9-90d7-397e49f16222 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:d4426e4f-f53c-4607-86d8-7ff251469110 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:27743463 uuid:d024c605-c0a3-473e-b425-5e9135501885 phenopacket.store:FBXL4.PMID_27743463_S4 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:bfcd90c0-56d1-480d-bd23-5bdf3adc2c93 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:d9833d54-92ea-405f-810b-55a1089fe07e phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:9c5bac6a-42d1-4cde-bbbd-f5ec4c85e812 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:5bb4d971-1959-44c0-a51a-83971b4c1aa7 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:65d25a29-f039-419b-941b-0d1bd66b27d1 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:3a878644-58cc-4372-ae83-5a017378d267 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:f7941483-54ee-4f0b-8a01-c1a079aa73fb phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:a60531af-96db-4c93-9ed8-69d8a35844be phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:ee687d65-6fbf-445b-9237-1553d3a67425 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:c43ef66b-ae08-4cb6-af0d-4699c071ff7d phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:7ea60aa7-e7c1-4989-8af3-1cd211b12938 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:2431b0c5-43e2-43df-af7b-df216e0a8c26 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:8cca3fe1-6320-4a28-9464-35daa459b6ed phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:2e31e372-ba7f-4deb-87ca-bf15c3f5b019 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:789ac8c7-6ad8-4935-8478-2f352f28b9ad phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:36d83400-4d54-4884-b392-c6ccb00715cf phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:0341061e-3ffe-4f67-9cd9-2885843fc8ab phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:4a696ec2-644e-428f-91d4-b0c333361381 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:27743463 uuid:9e5d3848-e548-4e7d-8a7c-81e6f305ed09 phenopacket.store:FBXL4.PMID_27743463_S9 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:e3d87c40-52b5-463c-92b6-31b413a491b7 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:41722fca-7ce7-421c-8411-7ac4e5c41e7f phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:5ec8909a-58b6-4e6d-9533-22e92de34e26 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3c3bdc36-6d39-41f6-b102-13809f1315d7 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:a3f04f02-cd50-4058-ac6c-695e5ca478f6 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3fbbb8ee-89d7-44ea-9b3e-1b44d4cfe472 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:2dc34c8e-5094-4cbd-aeab-f8109664277b phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:f0fa1575-d17b-49fc-912c-5e2e5ebbd339 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:f4afda80-cdd8-4afa-bc30-41d3a214daa8 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:09414b34-1caf-4ae9-98fd-e6535f3d4426 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3c56572e-9c5d-40c3-9800-f1654940708a phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b4e130ae-e1b4-46f8-971f-bc8d5d3e62fe phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:203de6a8-98a7-4864-bece-db6f9180504a phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:bcb280ee-103f-4516-bcb0-e0be8e5b5e62 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:eb42e9bf-17fe-434b-8751-af7893504ecd phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:f4250be5-4642-4f6f-90ef-5c58e280212d phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f26c316c-5bf7-4b9f-86f0-657da5a4ac47 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:5d3c4e56-6d93-4575-84b4-462686441dcb phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ca4f3b40-57db-43dd-b427-d775ccad4249 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:586fb37b-8d69-4027-975c-1355118d0291 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:fd046f41-71a9-4ba1-a11d-3c709ae37282 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1246ec5e-aa3b-4608-8440-0a8a3be43a78 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:295df30c-8eda-4ee2-a3d8-3b5816feaa80 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f6f69f8d-24f9-4233-973f-38ceb31fd75c phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:76b0dc77-9e53-4cbc-94c5-2b4fdd55f673 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:839fe978-4750-42e8-a095-9ff017cac56d phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c256331c-d233-4278-bcc7-4dbd0ce86f06 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:aaf747c2-149c-46a0-ba9a-e528460ca9dc phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:208d2799-b7c8-411f-ba86-c71601e31a32 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:48f1dd0b-4379-488f-a866-9660b6fce22e phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:113c2c36-d19d-400b-b32e-c09908572d6a phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:fc902e91-5719-45cb-99e3-8c19a1d60a55 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:386c7913-b737-437e-87a6-1ff3d6813ae0 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:43af7fe9-2d82-4cf5-9edd-c2c6cd981871 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1e02dc04-119d-47a6-a4bc-e618b4a861b3 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:deab1995-cfa9-4f57-b074-98fc5a110396 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0e177687-b0c9-4358-9881-76668c6f07b9 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8896af4e-6d09-4bf1-a752-a5720ba410ec phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b62d4ead-99cb-402b-b961-86be573e2f38 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1ddcd049-d32e-452e-ab65-bbb8624968c9 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6e97dd68-5fb6-45f6-9139-c022ee771b24 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:76e509a8-2652-4621-8b1e-66429de7ab30 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:945cf43e-9d32-4ea7-b822-965ac012ee95 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:a271e140-202b-4532-9865-8317126ffea8 phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:2a01fc28-c739-4cea-aee1-b7a13c021849 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:23947c85-0ef9-4f53-bf30-6f705502237e phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:f4131f74-9d25-4bed-9843-82315773aaef phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:95a3d306-e6eb-41e1-a6e7-2e39a85ab042 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:55d3ca00-86da-440f-ba98-9439726a7098 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:f85fa6b3-2532-4996-9e68-9ba4a6cf7908 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:da066e82-d388-49c4-836c-292d76b954d8 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:9139a92d-a737-47b5-bf5e-b97e416ef43f phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:023bd273-e696-4e8e-8422-083d7c19e786 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:a34f58b6-674d-42c1-8363-d13b4f42aa14 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:9a1d7bed-623b-4602-97b0-e50734ff5645 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:ac8557ad-90be-406f-9dbc-92c418198092 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:e0f792d8-8982-40d7-b4bd-699a8eaa6081 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:cc0c69f3-7b40-44be-aa6c-4292d30d2111 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:acb1a3b1-a51d-44e0-98d8-495bcdd4dde5 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:a5f67614-1d7d-4416-9935-ea0699eafbe9 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:1955d8d8-1e9e-4082-90a0-7c46f2dfc896 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:4d520e31-245b-4446-bf38-e405abc7f29a phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:5a9ba92d-372d-425b-bb4f-c68a37eb486a phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:17c809da-7aeb-4482-b909-8a19a66575ef phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:b3619d2d-5f27-4e90-b575-8da93012cd08 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:194df95a-bf7e-44c1-8f2b-2fc3e791663e phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:cd342057-1361-44df-98fc-025429d8816d phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:d66d7f4e-1f22-4111-b1ef-8dd6572161bf phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34602956 uuid:2bd69b0f-1f0b-43d4-82d8-3ae9a33e2fb1 phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34602956 uuid:6de04324-5acc-4103-9f95-ec4f2025bbeb phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34602956 uuid:d5994044-9726-44a2-adc7-ed8fe218ae3a phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:71a77e16-283f-4d04-9115-b91e25c810d3 phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:57c7f608-fee7-4ff6-885b-962ffdaf753f phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:967ad377-9747-4f67-8a3c-2a9dc94acf05 phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:03539883-bcf5-4ed1-a5b5-6a840fd82548 phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:31a0d346-716e-4229-8f68-d9edc6c7230d phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:27290639 uuid:e41c428f-2c8e-4121-8e59-39690090298f phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27290639 uuid:e19c22a6-6f09-476f-a537-46ab4db1c3cc phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:ae350b46-1e75-4b4f-8ba9-7b4fac5eec8c phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:5322b9f8-3981-4088-bf00-56def3309f5f phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:0eedb42f-1a3e-4cd5-925f-d50402ba9f87 phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:eabd368d-1dca-4e19-99dc-464db930abba phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:f6ab34a6-1b0e-4f20-a282-fc793804b55e phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:9f5b3b8a-63aa-4912-958f-3f87e6104313 phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:666b0a40-ba56-47b2-9330-3465707bbb74 phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:ad1552a9-0717-4a0e-bbeb-fd1d3495b8fb phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31442532 uuid:9c8cf161-b06f-43d4-9b1c-b9f94c5360cf phenopacket.store:FBXL4.PMID_31442532_P2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31442532 uuid:fefe48f4-cae6-4dc0-9dce-4ea94797af13 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_IV5 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:e148c9df-c0ca-49c6-a1d9-5a77a80cd176 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_IV5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3ecd2bcd-9a93-4ac0-bcfe-93474e6832e6 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_IV5 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4f037836-c0c6-48e7-bc23-9d8c6a4c0fc7 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_IV5 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:a3bfd7e8-8c38-4869-b299-11a6f584ca04 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_IV5 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:5d71c769-f957-4661-9023-baa3e3432948 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:8aaa97cf-524d-4e7c-9708-0218c1c78a2d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:45164910-6b8d-43b9-ac23-31d5e967ea19 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:0085af10-ab49-44e6-84fd-5bc989eac4e5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:40870064-1425-4cbd-9273-ac113a96548a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d93e9566-23b6-4d8b-acf5-82cce2b582db phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:a786469a-a266-4333-ac91-32751253e9c1 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:17cfb1e3-9332-497d-9d98-677aa2c37ef0 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:5dbc8df4-5e9f-40a8-968e-bb668cadb0ab phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9cba129e-af19-4da7-8c11-64fd69f9750c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ea7d7039-5819-448c-b6ee-34d8ddc60842 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:953fcf19-a02a-4acd-89b0-24f82913ab8b phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:93859afd-605c-4c17-a8ab-cb31697d0f6a phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ba2abfe2-f7fb-45a2-af31-d0b05b7cc445 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:902e74d8-9f96-4ec5-bbea-96f67277100f phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:da48c215-97ee-43b5-a7d8-2d8da6eb39fc phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9048f19d-cc08-49e2-9482-df516b397420 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:843ff78a-4d06-43ca-9025-c13c9ae7a2d7 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:22a32d40-3b39-46ee-ae34-c1091f1c35a5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e42ff28d-62d1-4745-925b-d334ef94e7e6 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d7cd0e9b-fc3e-4776-ac87-5bb37aa3c916 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1edb04a4-696d-4cfc-838d-377de8efb34c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bca0b96c-40a0-4967-b975-3bb568b081ae phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6af4a9e0-bbd9-4a6e-a15e-a17b17dc2008 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dd7f6172-ce85-4283-aeff-d415050db351 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f412320c-6f7a-4e06-8763-c42ca53ceaec phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9efebb81-d9b7-4828-bb94-1b618299d2dd phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7db1a863-8006-485d-90d7-fd6672e01f79 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2a43dfa2-e1f5-4a1d-acc9-7a3ac6388cc1 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d2e8ff9f-6875-4c97-9940-5a9275189efb phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:becb470b-c370-4e2e-8d20-67a9455c8a6c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7ea7801b-9053-4fce-b956-e00c03e5c9ed phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:64a602b3-dec1-4634-99a0-290d2f4cbd83 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:34b1ae0a-bbee-41f6-b6f3-bdf3df6bde62 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2f7f3d10-59bc-4f79-8dd3-e8be07a73eb0 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bece690b-ed69-4c7e-8937-32eb00da2587 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:b3c81bc2-87c2-4d02-ac96-07c1fcbbbbc3 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7050aa92-197c-4c08-8895-83149ad16759 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bd904e36-c228-44aa-8b75-00d1a5598e42 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:36674cd6-5fd7-4d71-8456-1bd09714c8a9 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8eaba6fd-6f17-433a-a03c-0a5dde7df297 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d667ff96-aa51-4e9d-bff3-2afb906c4e5f phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bdbaf7e4-4623-41b1-a478-c7502fc708c8 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9c5bde7e-b639-49ce-a6fd-549a6e74cef5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:23993194 uuid:fb60971d-58fb-468b-84a9-4bf857c4f816 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:a39ade66-9a3e-410c-b898-d7ae2591847b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ddf0d3b8-d4df-4ace-bf54-706ffd8446fd phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:902c32cf-ce56-42c6-8a73-40b641177540 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:70655b31-0ef2-4412-b86a-59cafcd722c7 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5451b2d1-8e8b-4b6a-9866-3a924c32ec56 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:200b726c-1fa3-40dd-b8af-ef780baaf573 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:03b9efc9-5250-4574-9aae-e163a691cfca phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d1b8bf0e-1dc9-43a7-ab56-3d60efa8921b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:66c03e17-90b0-49ec-ae37-f2fa99cc4bb5 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fea6fe28-b70a-4e7b-b7eb-4a9a960f560b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:31337483-3452-47d5-956e-570353b7e1cb phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e853d179-ce9e-4d62-92de-d70dd6277b25 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2cae26f0-4180-455b-9777-f6df961dbe5b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c82b7d1b-309b-42bc-9288-a72ec1f7ce4b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6c0194b5-f843-4725-ae64-db4ba1cdaa0a phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b5214209-37e3-4099-9620-861c37f8ee9d phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:98bb9bf1-9c7c-477c-af26-4677223b318b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6f79520f-73fa-4a14-88f1-06bb9c76aa9b phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:82e4e373-4a03-4513-9dca-952a928d8b66 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:701da83e-1222-49f8-ab6f-6aca469afa2f phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7faf7c60-e747-45b5-9c71-222a6581cb2e phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:43cac041-84ca-4ad5-8ff6-1fd8e8ca1daf phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:435927fa-2199-48a3-a578-0a5f380ec2b6 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d690bda3-a006-45db-9253-30022a0c5a58 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:25868664 uuid:85d92c0b-2169-4fc4-9880-fe60fe976969 phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:674da421-5a96-41d7-8595-ce6365ba8eb8 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:26404457 uuid:136841c5-0a9a-4a0b-9a50-5ce173bb95a5 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:8a18d9aa-eeb2-4a41-8d9b-a632ab8dcace phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:02787ded-6a3b-4d2f-898b-2f3e08e610f2 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:3a76e9c7-9555-4b0e-a74d-d3ffd117e915 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:1fff1944-5c18-4387-871b-d0bd2ab80c68 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:8364ed43-7ee5-4509-b8e5-633739b847cc phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:208d0de0-a7dc-454e-87a4-732e378c0918 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:54049071-aff7-4fb5-9e3e-d952e316e7d4 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:7599df21-7c5e-4096-ba2b-3faab671a3cb phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:bfc832d8-5046-45e7-bc1b-cebf1c789a17 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:23541661-5918-496d-ac29-b25fb69d7993 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:d52f93d6-ea61-443f-9f2a-10b87e54be35 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:28ff47eb-b6df-4d1a-aa3f-e986c1ac4418 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:ac539e77-0915-452e-b0dd-59b132845691 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26404457 uuid:a6afd47d-5c03-407e-a7c3-6e7785d6573d phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:26404457 uuid:0d3eeb85-3de9-4d6c-b7a9-2a70449083f8 phenopacket.store:FBXL4.PMID_26404457_subject biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26404457 uuid:976cfb8c-1a56-445f-a63f-e6f1eee63868 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:44abcd1e-405c-49aa-a410-ffbdcf56a130 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:75cf74a3-53e5-45b6-96f4-9d8560866f8f phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:82018e2e-8165-42c1-b2de-ee6e818ceb75 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e385b985-c008-4312-9b63-6217e58e11ba phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:eba2e545-4699-4463-9101-b71343239fbe phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:aed3b6d8-faaa-419d-9e5d-848536a0145f phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:285c01e0-f49d-4d3e-ae94-0158cd5b79ef phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:130b92d3-8862-41bc-aed9-ce703482eb08 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6b1aa5b2-0b5e-4923-945c-fff472f95030 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a36be539-b4c3-4a4c-8e1c-e5df1816f29d phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:29a9e76e-2537-4562-b22f-123d0be03f06 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:11e00092-5785-496c-8ea9-501deeb30138 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c44cc21e-bdb5-4e8c-8a79-bd75f13b21fa phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:405c9e27-9df1-4b80-9382-b31c3388224a phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6e53a464-cb0c-48b0-b27e-8a8cbe27a73e phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3ab5eaf9-d265-45da-ba77-1a6169980631 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b9fecf7b-3f9f-4c95-a348-72fecf3023bd phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d05af65f-a80a-40cf-a101-b0d8c5edf3d9 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c8fa0029-b6c4-4c75-885c-a9ed1066ea7f phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1fd0e0f6-6881-43a0-b00e-7a314fde4a71 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:714aa05e-fd03-41d6-8492-52214c19df46 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:64280d90-daff-49cc-bd4c-59c2ade423fe phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:05bc0f45-258d-4dfb-aee2-c4756e5aea2b phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3b3c3d74-5862-4c28-a92d-f564d0cf2034 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dd4c7e09-77cb-4def-b1f1-b7ec85fd151f phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:74461283-b897-446a-b59a-7452717ed3b5 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e3707cb0-e48f-4337-9838-3b228a3260d5 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1f299e40-55c1-4b0b-af45-c74e48562f5a phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:661bc10a-827f-4231-a259-19a23ad976ca phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:72ac07ae-494d-4f6f-b844-a37e9b493179 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5af2e165-8806-45bf-9723-fb5622e6cdeb phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:69c4a60e-c127-44f8-985d-52cf9810b01e phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:05aa3ae2-725a-418d-a1f3-f02acd16a8d0 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:17eb1f48-0958-43cf-954b-6652d2f168ed phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:662f6d30-a8c7-4f47-8e0e-8c13f600a033 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d1cbbdea-8ddc-44fa-aefa-d6f75a5888d3 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:87ec8acd-d8dd-4208-8e80-077efbc934bc phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c1d97c28-9034-40e7-bd06-c549fd27e4bc phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5934eb2c-8980-4b41-a534-ceeaa1b3a2dc phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9e789a2e-6bd6-4b30-a542-e29f3d19487f phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f5858c44-29ac-401d-8f63-dbd9bc0ab501 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:56557a4b-44d9-4d3d-bd07-3c205d243bc8 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8e6e6570-e770-4628-85a8-a06c96812b9f phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:01acb12a-8f9c-4e38-ab08-aa1abefe3d75 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fa7cb7cd-bc93-45b7-9d19-0577d50b6791 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2d42e39f-b2dd-42f4-972b-7a20e7547227 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:048f0594-1551-4b52-a079-8357cdb9d6e5 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:402d038c-bbdf-446d-9dfe-b3b8628ed890 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:89217d23-cc3b-4439-961d-b9508752ec53 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1388e18c-4b3d-451f-9681-c3f72a76b788 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:7f418479-f8cb-4f3e-949c-07d2f9ae61c9 phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:253d8a9e-7367-42c2-92b2-bfcabc9b420d phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:73ffe01f-292e-4a6a-90d3-c899d78deac9 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b031b71d-bcfc-4ce8-92f3-0e05958f29f9 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:2bc85bba-39cd-49c6-90fc-c0ea2ded18ff phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:4e8d7952-de40-4854-bba8-2083f7024696 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:edea3715-5328-41be-9bb1-2aad73f111c5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:eda9988d-2d56-4cf3-8fab-c845c23092b1 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:eabf60af-30b3-4593-96c3-aa6923a4bd58 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c49ef8df-71a0-4a93-8887-d8ec1347994c phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0656b46a-0266-4cd1-8ab8-29cea7f2b988 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0feb84ed-17ea-40b3-bdd3-3e1705825606 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:456ee44e-d5e9-4c27-8a25-743c32e41780 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8b490cbf-847c-452f-8d10-b18941aad4fc phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:31cea4c8-0edc-4c63-95d0-ad3c5083bea5 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1937d286-bbe2-4e1d-bd81-cb591fedb0ce phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dda64c51-552d-4a38-927c-a0c26829ba21 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7903f580-dbd1-4a03-bc55-dc52c87fcf42 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:745b9ac5-a528-4737-88ab-3aaae61e3fff phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d2702ffc-9385-4317-9097-29a84fd79712 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:908ac593-1f19-4a4d-afc8-1220b6d9d042 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:034eac58-d579-4cc4-8b6b-32328122affc phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:01464544-04c1-443b-a69d-86815ce32192 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:593b659f-5067-4172-8fd7-f60682e59ae2 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:23993194 uuid:0eaf8765-e219-4d95-8f7c-98768ced0da6 phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:71850e56-ac6f-4298-9c65-7ba80806201c phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ef7e7aad-89ad-44e4-b414-281f6701a504 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ba542290-ddec-4193-8d57-5a569eb41608 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:272851d7-68f4-4328-a060-eec6a34657aa phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8fab8e12-fcca-4e84-8b23-e6157a1dcdb4 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:03912683-386a-4e97-b818-e46878a40a5d phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4af5505b-621c-42bb-a410-3d5f73ec2301 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:02ec0381-3664-4c12-bdea-b95b81b7a18a phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:696d5e5c-7205-4784-acb3-d1ae4a0fe37b phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:875ab270-2ef2-49b6-8096-1cd2a4793e96 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:68409124-954a-4b50-a08c-39e93934c0f6 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b2b75c41-e15d-4ed3-8eb5-e1ebf99723a8 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e7babf6d-69f7-4760-b8b2-790acfcca167 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:168287d7-461c-4e56-abf9-b382984a44fd phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:57fed0e2-18d7-4c6c-9214-48c9ee1e7a5c phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4c4354ad-7d46-4cce-b834-a9f2eb03c5a5 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4f7eac5b-a4ce-4307-8322-0bf1462607ef phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:87036039-d5fb-4b51-b2cf-cf91d7c840d4 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0c397b97-afa4-4796-b719-e06c4f372aa6 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:636b8e9f-fa41-4090-947b-e45c796d239a phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:40be94a2-0333-4ebb-b312-55bd5fcc8e9d phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f38c7678-f1b4-4fe0-8866-1b343021908c phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3267ff69-122b-4cd0-884a-860e495aa887 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e6f2b688-3e63-4390-b700-dbf8deb63352 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:793c445c-7f8f-4e12-8403-4bb9aca0f5a2 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:aea1d7d0-f868-4b1b-aa69-9592d1f42557 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b0845733-6e9e-4100-9e7c-bd843ad83951 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:15e520ac-1c5e-4156-8ff3-7f94b8ee9dea phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3fcee9f4-f821-40a5-b97f-03d6320c9947 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0f35425f-fedc-40ad-a18f-f6daa65c1c5c phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:77af9b22-188f-4dcc-a6f7-c6de627dbeab phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:aa04983c-bff6-4196-8db3-89ac423b4e39 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:16e41436-d588-4b6e-be9d-e67ea6417f60 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:304a841f-6f6f-4006-b63c-584401f1e747 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9a93088b-f8a8-4178-b596-9ab51e287fab phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9fc4a4b6-a7c5-43b4-b4bb-48dc6cd915e6 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4eb2686d-b0b6-4750-bb57-276a0e2b4cd6 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5828a612-0639-4306-9a31-6e5e8abaf267 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:22317f46-ef7d-4fb5-8d1f-37ce067fc344 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2e2219b7-f6a5-436c-b8eb-b06ef55425c5 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9e0ed67e-3518-408e-9bbf-024e008ba221 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:241d65b9-7b3c-4186-b548-0f321c5d5eaa phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:addbb7da-8386-4260-93e8-f8c6575ef272 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ab7845b-a63d-4b74-84fd-e67e9f366de4 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c35f7a68-9378-4184-8087-4a8bc1a6250c phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d8e46e20-3b15-4f9e-90fb-97ac40262323 phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:f488bf19-ddbb-45e8-bc5d-74883d53ea5a phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:d6f627ae-68da-4783-9b39-07ffc93385d9 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bbf1e76e-266b-4080-a076-a299aeb04be3 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2817c0e1-ad3b-418d-ad45-b78c1d91e2c7 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3fbfd846-5703-4ba1-a7ca-ac803df89de7 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ad461408-3959-4b0f-9e40-eb58075e4869 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f6f4bdb6-215f-452c-9245-599933707ae7 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:10df72d3-0b20-4abe-b284-67ad71edb1dc phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:951b8f02-2ef9-4464-9139-d7a02f030562 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8616b18c-4f2b-43d0-af90-f9208f0e6412 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4880b3e9-61da-435f-90c4-0655b9d2b962 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bd3ae553-1b6c-45d6-8e1e-80038da3a26b phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5881e7f0-1fee-47ba-9362-742a61a5079a phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ce37f2bf-91c9-4581-a3f0-1e4ffc75fb1a phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:07572a6e-90fe-452c-935d-76dffb7f6139 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:81b75caf-cb66-45db-a3ec-4ee1b3a3cc18 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3b691294-66bb-4907-bb88-f91c7565ab38 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cf39a80a-26ca-49e1-ae0a-84e52a54b996 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:11ed86a8-4ab7-4c54-a330-bee56e274f63 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6196c394-10d7-4b1a-8805-3ee9a3fa1b50 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0e720489-c238-45be-b103-d42c5e0e085a phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be9c198d-c37d-4ea0-9c7b-8b60baf3e0ec phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0c776f50-c13a-4012-9d76-46890671ef0e phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c3ae6362-6e7e-4661-8ab8-b3364a3e9b9e phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dbff38cc-e341-475e-869c-645d9daab4e2 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:54111680-ac17-4cf3-90ce-2ed7307e6c0e phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f9871bbe-9ec6-47ed-b393-bbaddea577b0 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a8cdf136-ce69-4616-acd7-5b048fc77e83 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:de10aa56-1e44-4c63-b5e2-50e86cef1c86 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c8a63731-08c7-44d7-8254-ba8f13776e90 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3cbc4d78-1541-46c4-813c-ebf7fa6258b9 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:495c472f-ea97-403f-bda7-6ed533b5a300 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b38fd71a-4c1f-45ce-bda2-43d86a77f4da phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:14ae7a00-fb36-430b-b7c6-95ac6c3a739f phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e96f37ae-a354-4e7b-bd03-2aad87be5a40 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8536b8e4-26f2-426b-8fa0-953b71b2ef61 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1b1503ae-f2ee-4d87-b83c-0d0ff2d2fb61 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec40191c-82b1-4fff-b836-d088b8f9b770 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:959f7c05-ebed-4782-ac3d-5ca3e01a45a9 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7131321c-aef2-4509-b077-e4ee91378cea phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8ee363f3-dcaf-4cfd-8b25-e8fd833850ef phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3529d5bc-38e9-47fe-99de-9a2466864787 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:87f4b3c8-0879-4b3a-9e57-784d779825dc phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d80952aa-4e80-4f5b-8edb-31299cd04da5 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b0f387fc-bb29-496a-b57a-b23c3685c15c phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d291b9b8-8ff1-40a5-9907-78334e58e2c2 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e694415c-2962-4b20-9fa8-3e22d39323fc phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8955f7a1-1d70-43d6-a454-16477361002c phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f1f7afe3-9724-4072-92f3-9129092d917d phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28940506 uuid:6a22b6f8-4839-4145-8182-a7aa983eab28 phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:ca0ca062-cd1c-494e-b458-0bd48358c995 phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:29e22343-0443-4118-8d07-ce36d98ff586 phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:f8df4ef2-9d0c-4a48-af69-a9f526e651b2 phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:8f75ca54-77d4-49b2-ba45-f0c888a54beb phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:d03593d5-2cc4-47bd-98ce-843a07e909ff phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:67cf1d73-19d2-4a64-a4d2-49ca2d5c9121 phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:126fd3b9-5597-48ae-b8ba-291d1ef9c440 phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:09e2c432-728c-4246-84fa-42a1be0adaba phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:01304a31-ac9e-4643-821a-6427022a3caf phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27290639 uuid:4b67acce-d637-4e53-b701-c36f26da740e phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:b94f659d-38e4-4b44-a2df-7e0b0f29ce80 phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27290639 uuid:9440a547-369d-498b-8ab6-1b464513836f phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27290639 uuid:3d89cd2b-4345-4516-9662-8a3c64f3354c phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27290639 uuid:7b18b939-c86c-4771-84ba-cd40b4afadcf phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:88fe4dc8-c510-4d28-83aa-ed6e5fe3a8c8 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:60cb4d9a-3fd0-43a5-98e2-ab0f2fc07fbe phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ad76591d-2586-42a0-9f53-a1421411ce2c phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:114a9b50-bce6-49e3-a8dd-27254811d389 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2f792b2b-1d87-4b98-bafd-fe6e0528ad66 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3da048a5-2dbf-409e-b22e-c6142c2cfdea phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ac36987c-e9c3-45dd-b2ed-4357a7c8e9d2 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ab87652d-c613-43b6-8aee-088034dfdf10 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:04c561c1-d90d-45b3-882c-bd43846efc5d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ad47c7eb-191e-47dc-bbec-76a2654b7150 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b7f16446-cdd0-4355-a2f0-3934730577ec phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:14b3d51f-b630-4bae-a29c-d06063feacd0 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:74280e63-c62a-426a-9047-3704bbd2e5dd phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5f2466e9-703b-46d9-b29c-ec42ff31a087 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ac053335-a9d8-48fc-9ea9-9092b57168bb phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4cc48aa7-bd85-4e33-bb65-927e6e0d59e3 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4a33f624-3ef7-45ca-83cc-e5a5f1de279c phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eaf0fcbf-4a3e-4d4d-8fe0-b61609b63716 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:77a41fed-ef42-48f8-8dbf-fef4da57e670 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b6621c5d-fc1a-4a86-bea7-acb585798b34 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:062af668-0cfd-4ee6-8bf4-a6f633b79540 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bf0b0d6b-7103-4056-885f-49dd5e83c325 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a09747c6-7bb1-4df0-9f2d-15d90658844e phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f313b9c0-0add-48c5-a4bb-43cf9793c214 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c8cd9fb7-2b40-48f3-ac2c-975f9e9530b5 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9aba7256-292b-42ae-a5d0-f03dd73f3149 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4e7baed9-3be7-4589-b2e0-430bfc866d0c phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5ecf910e-cf16-415b-b4b2-484cb8e614de phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6c9ed88b-ef4d-4981-8cb5-2f9a670e2049 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1bd5b76b-12f9-49d4-bcf2-57aa5d4b35e9 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a002308e-8598-440e-ac92-dcdf25620bbc phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3c03221b-58d4-410d-8a35-c731c4a34f6d phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b38ae4e3-00cf-45da-8a79-e2d432f3360b phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:066a484e-ee4f-4064-8b38-0a3588833450 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9a8ba48c-f4ad-4a07-8cfb-2304d542fc30 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c4ce5699-e66b-42de-93f6-9470ddfe095e phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9186c369-4e28-482b-941e-d4292b8a9c36 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dbab46bf-ef46-43e2-ba6b-77f1e57373c0 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:12b51e58-e27c-4b69-acdc-915881bbd734 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e8c9a37d-bc3a-4c4d-ae04-8ce2bc777f10 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:364851c6-3c34-49dc-9b6d-39cf6572d57e phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bd255a49-02cb-43bc-801a-9628919f2065 phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3bddcbf5-6eb4-4d22-8b5c-f109d00f32ce phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:e9a4e780-861d-4ff3-9236-d178f7c3efcc phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:8a323fcf-5ede-4805-b4e8-9b61fc139a37 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:86868ddf-4311-4c4c-9bf6-6fc52b5f1a5d phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:3a91c10c-f6e9-4f9b-bda1-2d5db20acfe7 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:ad59feb2-07dc-4365-aca6-c62aefd0641d phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:b0d22598-307d-4509-954e-bd903af0af46 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2325abca-d497-4931-923c-9060c3b750e4 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:79612022-f946-45b8-b4c9-63ed2193d43a phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dd69d240-caf1-44af-87ab-4b434693710e phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:0e83a3a4-60e3-4cbf-9471-bd43ac859195 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:bc644f91-c908-4fc4-a7a3-4f19ff0a4095 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:7821d4d2-71b8-40e0-be42-c3e0eb796413 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:1929bb50-09d1-40f1-a7d1-8bd3f5ec785a phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dc2ddad8-1077-4370-80af-725fa4f4b017 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ea95150f-71fd-4a0b-ba92-a85c60a2d4be phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:cbf3c51f-60fc-486e-9f24-7550047dbc00 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:23603c3e-8d7f-4759-a276-a6445aaa7194 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:50b683d3-6536-4af3-b778-f5684151f0d4 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d3428855-04e1-471d-bc1c-4fbdcc72f2c5 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:11f21fc3-89c0-48dc-834e-5fb31b259c48 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:d43311e3-37e5-4e5c-8ec5-95adfdcfba9e phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9437a40a-c794-4392-932a-a7275628af24 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:53aa77a2-f96b-423d-b3fe-48b0fb901f65 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:96f7f3d7-8d9a-41a8-b05f-ce7dbee179c7 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:8edf7ffc-d328-42ee-80d9-8e0cc6ca6454 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:23eafec3-2ddc-416e-99d5-b65c6cc26ba8 phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4e2db597-4f7c-40c6-95a8-074a59d0f5aa phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:3be2b3ce-eb95-420b-a1cf-e15871b6faef phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:143d1945-eea3-46e7-b770-29291fa5bf40 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1724989d-0d63-4f94-afc6-1115f1b1916b phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bd3048ae-9966-4fac-92c3-8d839ffb8227 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ac2f3a57-6c3a-4eaa-acc7-992a4720f485 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b2ab139a-27a7-40b3-b820-e70b43fac7b9 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5520fc9b-c011-4b9d-b6d0-a3d73848cdde phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0092b0c0-224b-4b93-a701-5c36669647af phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c76cb2ca-2f82-4676-bc4a-32b8b9d52a41 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ee7595ba-15a0-4c41-a496-33426e8f9778 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1e93a43a-1e51-4a25-a0d7-645695b4258d phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7282b774-99b7-4a0b-9137-3e63a668863d phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d35125fe-401c-4031-a84b-ba67949d1362 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2dedb013-a456-4d69-9cb0-73ec8ce2dcf7 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1f447729-6663-4923-b47f-c42d7e7f38fd phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e2dc81b2-6875-40ca-98ee-bcef6c9782f3 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:727eabc4-87ad-491a-83fb-ee653bc1bfae phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b5454907-74f3-4c31-990f-b64e09084ff5 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a680d0fa-cc9d-48b4-8f6e-7217ac3afba2 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:765fee58-ca65-4024-b98c-a980d5c1a4b9 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3312b262-3fff-40e8-a177-88d1c1f156d1 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e8a52428-0ee6-4767-ab91-903ff223a191 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:96072c09-2664-406d-aba4-23c6d7bef9ca phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ff99873e-835f-41e7-a072-6df53eafcea1 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0f2ab9c5-9449-4c17-9d0b-b826dfecdf9e phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ca913503-75ff-4d8b-b145-3e29f24e234a phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7eaa90d1-5f6f-4888-b00a-795e25b128c2 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:86e3c86d-8a7c-4843-be0d-ecfcf8368abc phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:77f222e0-f875-40a2-8475-b4fc619454a0 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:64bffea7-6f9d-43ee-8ef5-60dcafb1732c phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b9197fb7-888e-4dbd-8490-23d1ae30e1af phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27321731-3c5b-48eb-bbad-f25151c33329 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:14fc9eec-8290-42c1-909e-5379a38418e7 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a315e755-a0d2-4c60-aa5f-3c3fcd7e2bac phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:08cb539a-999c-4c01-9f9f-575247b3a93c phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be0928ad-021d-451d-8407-ea9b490c3e6d phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:162d8437-6678-4715-ba78-b70ff7a808c9 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ea559c9f-cc11-4c58-a7e5-50588304df75 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5bac6af6-ed20-4ba2-9f71-862e2a0568a3 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5d578a1d-c6c8-4953-a586-411b4b92e1f5 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0b7e14b5-6445-4e22-b8c6-3b9e8924788f phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f1f4d248-a3e2-4a3b-b693-75083ee768af phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27b0da14-0a00-4936-9b4b-7fd6e13f715b phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ecbd89a5-ec66-4a2b-a361-ea584ebf7144 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28940506 uuid:8d3f5f76-38a8-4eb8-9dec-f262486ed317 phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:d0eab25c-a2f6-42e4-bff1-ee0de278ba0a phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:450170d9-ab33-43ae-9bcf-a9cb470447d4 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:844954a7-20ed-4889-8936-92c035413b67 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:16f295cb-cd9d-450e-83c5-3c17383b6a1f phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f0c26d05-32b5-4727-816e-65c20e3ca996 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c4c5e8d8-cb86-4cf2-9376-af8117aea997 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:599f3cfe-4da8-41e2-92f5-48fc173485bb phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7976bb86-2a73-4645-97ec-251f48871bf8 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3b57ae42-335e-4dae-b8ee-15011967e84e phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6c1a9b53-a988-45c9-9325-844fe56534e9 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1bcef9b6-b047-4443-98de-73aa5f2775c5 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e2877626-48f9-4019-8f6d-e91f6047a2c3 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1a86e2c6-2b44-47cd-917d-f21a7b3fb1d5 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0aa53f74-b3da-40cc-9208-9756c6a1ad67 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:857f1629-4f8c-4adb-8e1e-779992ab1a15 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27a824ef-851b-452f-a6d9-9c795b881194 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d3e8e01a-394a-4f9d-921d-c0f35b4e6f78 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4c0b5627-09a0-43ee-ba6d-e78e8b1a53cf phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:22898c3f-3dc6-44f8-917a-094ac2f59bc6 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bf41e8a4-ba63-4362-ba6e-fa13c2ba0b74 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:468f50a6-0bfa-45fb-a22b-75b6c40a008f phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0d41a82b-940b-4929-9d68-7e646197090e phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:21582131-bc39-4a6a-82fd-c590598858e2 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cd4005ef-1bea-4fb2-94c2-b68b9602edf8 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:df0adfae-1700-4161-a058-de2cd79a2515 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bb1e0b70-6594-41f0-b15b-cd1cbf492df5 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:78a1ef59-a06b-4a7d-a14d-7feb6cb158d7 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:89d8ea57-b671-452e-bbee-a8c58b8546e1 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bbda4837-c28d-4715-9e19-4d9f08106fcd phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d258fb74-dce6-4998-9dc6-3e6d2f9baa2d phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fcb5a549-2016-468d-8280-91a3eac474f9 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6a8e331c-b72a-43d2-94f6-864277c9536f phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f38a49eb-69f2-4423-ab5c-4355207aaa3f phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:467d986d-c973-4758-a2d0-d0d82398ebd8 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:53e17180-44b8-41c9-91f6-41db10bc369f phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5216c788-03cf-47f0-b0c7-511240e757c4 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb582aae-9917-475d-9e54-bf3b2d1c6d83 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f8700c5e-2ef0-4b46-884b-e3c557e746bc phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:065c13ee-4d93-4328-b607-a162f36e5453 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:88ba0fda-acbf-429a-9cfd-eb3914cc3c87 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5706a311-46f4-4aac-bd8c-1dee385bc550 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ef3422ea-2749-4f3f-a90b-102dc5ae6958 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f2a6384c-bf45-4ead-8b09-8a62450eb63a phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:124dcec0-24bf-41e3-91f7-20237b9dd463 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1a171c8e-cc36-4204-b81c-bcff98c0a7e7 phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:20bbedd8-ad32-4f31-8e0e-c0eba404613b phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:e5fd7b31-204b-47e7-b8d6-d7597ff3780b phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:41d821f6-1168-4772-9c75-9d4296e4403c phenopacket.store:FBXL4.PMID_31442532_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:c071d7dd-3fe4-49e4-bbd2-deb9048903b6 phenopacket.store:FBXL4.PMID_31442532_P1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:8c111bf6-248f-47c3-b32a-8e0676b35a76 phenopacket.store:FBXL4.PMID_31442532_P1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31442532 uuid:ac4fd347-b733-4b6d-a729-9d7102f7a363 phenopacket.store:FBXL4.PMID_31442532_P1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31442532 uuid:3bf5b149-204a-40e2-bf5c-026f399f7b82 phenopacket.store:FBXL4.PMID_31442532_P1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31442532 uuid:7b92ae38-b903-4b9d-aafc-4f25427ee32c phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:a8401410-62df-4444-896c-d8c305b9b362 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d050a41a-f029-4603-b253-36ebaa547ff0 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f00fb202-568c-4912-8544-7ab0cd82b8b6 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ca063d81-d339-433a-b1d3-259e923bb4d7 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c430b4c7-2464-4437-b534-211196d4368f phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1cbb496b-45bb-4ba7-a4ca-184c27970908 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f91309bd-9b98-4da2-a622-17898a7a80ad phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5db8b327-6691-49bf-bfd1-a2762d43bdb8 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:0217ec9f-5609-4874-b6f1-9ab35c2b1dd2 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1a7fb9dc-8f09-46ba-948a-27c20ad25db9 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:9afc2396-f4d4-47d3-9902-5130696d8f2f phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3f4867be-ad7d-42c8-b28f-062bcbff1288 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b321a195-e436-4ded-bfeb-df3b2ebe141a phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2af77ac5-b3ef-4789-9abf-cceec37c1342 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f5b75734-c659-4770-be78-08458f7b87fe phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0d31801e-917e-494c-9358-717e88ed1c94 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:71d438d2-0d44-4af4-85e2-fd5a5ebf2003 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b2166d1b-00ab-4443-87c1-7176384fb243 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cd1eb33c-6c4a-4bed-92e4-aa7e6aae7754 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ea9c77b7-6a84-4e1a-b439-d3f1d7a58da5 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:437a1eb3-89df-4b7a-bd24-49f46a94f96a phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:daa60fb8-e8b6-4433-bf90-a2adb699a47e phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:87d4db8d-c889-4452-83b4-625ca9703660 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:88636995-ef9f-45ab-9fa9-29425931c885 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:dd518e8e-a9da-4ef7-8ddc-ce9c71174be8 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6693738c-7bcf-4a1c-8254-c99d188bac34 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d9bb8788-9575-450c-9f50-ed8832bdc5c9 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:04b6c7a1-0c09-4daa-9d4c-bfc77e9bf773 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:f7b191b7-72b7-4fd4-a6d5-2b0db7610e03 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:61472649-f1b9-4862-a883-393ab07e81b2 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:182b7b2d-c6a8-4764-b66f-fa681b29f2e6 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:fcd93539-d788-4688-ba02-69036e09b767 phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:630dab0f-c8b7-4bd5-bc69-c1f00cd34f2c phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:14de22a2-5e1e-4635-b863-69f5de535cbf phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c3c09c5f-2d0b-4352-a07a-a50b695a8e0d phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:feafde17-2b08-4f45-b51c-2395f59b0604 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:757c2162-5032-4743-9ef6-fc475d0b7264 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:378bc332-2879-41c7-b8b1-350699febd1c phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:78984d09-1f61-49f1-a3ad-d49e731a5b22 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:fa3deee3-f5ed-47a2-8900-2ba492803d89 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4901535b-9ab9-48ca-9c82-4513108cc2f6 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bc6f9f17-bca3-475b-abcf-99ec0d01cc64 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ce1dac75-463b-4b6b-821f-18e517dbefab phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:ac1b3786-669f-43f5-8896-2ceeb80783b8 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:0b61d829-a57b-46e3-9130-e931836343de phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:65970bab-3a98-4e87-ab15-7ca87b2e710f phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1c6f68ce-8463-497d-a8dc-2fd5b6a6ee78 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d969a7b7-2fbc-46c0-8c9b-8edbf3ed44e6 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a4d5adac-0ceb-4762-8687-e69156b850e2 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:69b1337c-d263-4d9c-8146-db7c72e0d5bc phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9126696d-7906-462c-88aa-7e29dce68622 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b923ff3b-7752-4deb-981d-56e0ede9eb22 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eb909b06-6e94-4a0a-b9ca-f989efc382ba phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6c0fabab-0aca-4a13-835b-48e6a82885fb phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b0471c6c-c071-4c91-997d-0effb844276f phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d4179b6e-1803-4b4a-b62e-808241a4c723 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4cd75280-5969-4b27-8d86-e093d2bbfbe0 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ecc522d0-ff0f-4e45-a913-b4ae58096d76 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:690a8fa7-951c-4f92-87aa-f3f423e8304c phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dcce634a-87e1-45e4-a685-1be795b245f6 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9676bd29-5f9f-48f2-883b-95daf7f4ead9 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:702c6766-5ef4-4ad5-8a50-27639f47d95b phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cbe385cd-85db-48a6-bc04-a86de7ae2f7b phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:dd6e9fa2-8dbc-4164-9e47-1259d2e008a6 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c4333d16-aa33-48ca-80ad-cbb522dc35a2 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8c72cb53-d652-4a95-99b8-b623d7f43bfc phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:23fd561a-b926-4d86-b398-fd59b27ca32e phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3435d9af-011d-4c14-bda2-fba7c4265604 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6a2e632d-eec3-4a81-91da-e71483d1c4a0 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5575c718-0a56-4463-beff-cb451eb05f7b phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b753beae-7f67-480c-9e94-15800d0d58a7 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0f00f010-a524-48bd-bc8b-6a5fe0c6ad93 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b34e4976-af37-493c-80bc-02a6dd0847cf phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a4bad980-3caa-4e40-9d8a-832144fa1547 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e617979c-cd66-4d5a-839e-d505817ebbbe phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cf63d147-5e90-4056-b1b5-7d177c021995 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:229b11de-808d-4be4-9c19-9c5e8b9aa3c2 phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb037b61-f255-49c1-8251-44c0fcf0f58e phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:882b89b1-6e31-4b13-9496-40ac0b5db1df phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:dd858647-5f3e-4a75-aed9-269ffd83d36a phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:6f13fa10-d227-427d-939b-bb71f21b7f3a phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f9b9df46-77e3-4247-84da-c9f1334cf5bd phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2a711466-8085-4608-90a3-2f5242ad577a phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:dcb20f42-318b-4864-bc8b-51a1b3dce1fb phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2570e546-d0f6-4a1f-9252-993753f3b81e phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:0701504e-8150-43da-9cca-6b0f62b7a160 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1b26c756-c073-4ef1-96e5-81d973c2c373 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:0b03976a-8e72-4084-a319-4940d28cdbd8 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d7815b79-52de-4aa0-bc2d-d418d7699549 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c584f4b8-5c5a-49d1-827a-b7560aa70268 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:bd5c484b-f199-4a83-ba3f-691e5a2878a2 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b9a8c322-e6d4-4120-b6d1-dfff1149b649 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:193bddb9-3215-41ac-9942-ae184ad21bef phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:1d4f85f7-f7c3-4181-af8e-e38fee8b6e99 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c13f417d-e0be-400a-b4fc-fccbdc1641fe phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c7202c5b-62e3-4b62-965e-149e97020c19 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b8bf97d4-c204-4cdd-810f-8e50b985eb88 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:59e91210-181e-4f87-9450-2958d147c71c phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:28bb8f96-da45-49ff-9362-8477c050fa84 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:161e6a64-fdd8-46f4-a886-eb1348834b44 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:501ca083-6a4c-403c-b7c6-7a4881593271 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:4bffe479-de2a-45a0-be69-e627921a60b2 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:9e6ebaf4-456f-4a19-b73c-30e1a329f2ac phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:404d1b8e-b6cb-43b5-ac94-b1e15e40a63d phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:906b0604-ee7f-47b6-9bd3-44ac19b06eba phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:92b52367-25ac-41c8-b0a1-81c12d5aa3bc phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:56940caf-acba-44d1-8824-0484f31be749 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:420b71a7-492f-4ff1-852d-0e5167fa01d9 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d7352e83-68be-4fd7-85ce-9a0f440ae165 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:08b9eaae-b5c4-43e4-8641-9c963a967fdb phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:36238737-131d-4cb5-91c4-0dbd7cda93ae phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5a767bc7-78e3-4152-81a7-1002fe0bb370 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8b7fef85-897d-4ec9-8bef-fb5c555357ed phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b3ae4896-1672-4de1-a935-4628d1d76f5d phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:fca2a156-84cf-4c7c-81a4-f8a12a1518ae phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5eb02e19-c4c1-4ea9-9517-f9ae32533bf1 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6ba02b21-da0c-4192-9669-f69a7f3166b5 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e7d95ed5-eed3-412a-9038-95d7b90c77ca phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:64061363-4ab7-47e6-85cf-d96dc12453be phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ac7aa2b7-cf50-4c08-9fd6-8700ce724c06 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:15ba6da9-e034-4faa-bda1-3c3b07178103 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6495e979-7377-4e37-a383-e1d324f6c046 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:64aab8fb-27ad-4972-98ea-63aa108a638e phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d0aff2bb-6f0a-4332-91b5-825f7a0bffa1 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5ffb97ff-2844-4fae-9d7a-db0397e03bf1 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e1349865-6f60-41cc-934d-c27472515ad3 phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:36f61c52-ec4d-4585-ac74-bafff120942f phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6167dcf2-6888-4c3b-b777-a5bbccba4ddd phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:c3dca523-37d6-49f2-a669-e9655e2fb59b phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:0c2e0fcc-2d19-46f0-92fe-1dcfd7b44106 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c34b810f-6d53-47dd-9ed0-3cfcff36e2e9 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:8a1eeb37-5835-4b43-afec-3da6844346c9 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:06253bd3-3862-4fa6-b394-3ae0425ee432 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:34012825-6362-4666-b974-51078e3d1250 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c1322332-8dae-4725-b607-ab1bfd338b42 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d7bba0f9-2a1d-46b7-9730-eb73f0cb572c phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a5dce165-5017-40b0-888f-a7ecc4169eb0 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c5d9e433-a64d-4506-ae44-5cf9650ec56a phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:64a764e0-d36a-47d5-bac3-282b72cc844d phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:25cb7691-4d09-46ec-9dc3-82bfe5855433 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:c7c263c9-27be-4b62-bd05-694ee8fb0e9d phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d4d01905-f9ae-4f10-8953-8622315b98f3 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1ab5032d-1abd-4503-a489-0ed39991307d phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a95f812f-57c3-4d74-b486-360c33ac4eb9 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0ddfd48a-6981-467b-93f9-f6e793f03010 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:aea8fea4-3770-404c-ab23-27203373966e phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cf279305-48d8-43e9-be2d-1f175c43f758 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bd1df1ae-e628-43e1-85b8-20b5aafa857b phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8f669b93-eea0-444c-8267-46254d98cf01 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:25868664 uuid:d01eec07-0da7-4252-9cb7-b6d6c527bc76 phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:fa265b64-cedd-4122-b6e7-66fc9dec93f7 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:713608e6-3b17-438a-8ccf-46266673b742 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:80d95a78-791c-4737-b999-c63c08ffdae8 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:de8e8a58-83bf-4264-b700-983133c5bb4b phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:187f7a31-c729-4a2d-b89b-babfa1cf0664 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:333f976d-fcf0-49bf-8f2d-dc05d816b231 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:105c612a-99a5-44d9-85d6-73b0cec4795a phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:9f62fbdc-cfdb-4658-94da-de769bb08a7d phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a3e67d13-bd16-466f-838a-4dc57e6998fb phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2050f814-ee1e-44ca-93f9-7accec1afb3f phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0450640b-a03e-4fab-aa50-0d743d172bf6 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3ce4e5d0-3044-43aa-985f-4c0044aebca5 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:09dd1dca-e079-49c1-8434-b43600938723 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:728e78de-9ca1-4d07-9a3f-57a4606cbe46 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:aedc8239-2ed4-482f-a8fd-0110fef68fd1 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:40226a5e-5116-4121-b131-1e49b4e008d4 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e199ba07-137a-4e3e-8a3b-9251ebf67d44 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:45bda46f-1b44-457b-89c1-3eba3afc4c03 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e72d9c62-cbb4-4702-96cc-38a753fa45d3 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4f6946a8-f88d-4678-a243-4954eef5ec86 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:27962084-fe34-46a5-8baa-936fbacc1a8f phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3227e4c6-b011-45f7-b74a-5e217f9a31ba phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d87b2fe5-5331-47c5-aad9-6e88351495b1 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2037c58d-f31c-48ad-afbb-cff251caf2c4 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:746e7ff0-dd9f-4f19-9452-bd13bd6aeb46 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:18fbda89-8bcf-4962-934d-475a3d14a2eb phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ec322891-cc86-4917-b824-ee0b4c9fa5d5 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b07e2106-c592-4d13-829c-90f54c5e76ae phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e4e33dbc-f630-4572-878a-5ecc3f5cfdf9 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d3903f5d-b558-4a5b-b2db-dbc663dae9a7 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:801fb216-6a8c-4a6e-a450-a9d2d8d483dd phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:52edb653-4fca-4b78-a449-e3a5103615b9 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:be515007-cb95-469c-ac99-cd5f1073b4bc phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6b993a94-2c96-4bce-a54d-76550d75a9db phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ed824322-64ef-4658-9000-47722f948208 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2078f6fa-9636-49e9-80f4-531eaa6bfbac phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4d0621de-c1fa-4d59-b32c-70ed3d11ecf0 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:15755d4a-4ab5-4007-b884-32072d8d7ae4 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4c42d3f8-1cea-462c-8361-87822bb0f3d3 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9302e8d5-53a1-4556-a57c-c564eefc6597 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:df8ad1a6-f7cf-42c5-bb31-7807323899d5 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:afb5f7d4-5164-4e5f-902b-b34da29ef0ed phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8e2879e7-bd13-4073-a947-787639ab9875 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9be87a70-55f3-426f-bf8b-8695c1b44ce7 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2eebfce9-fbb7-42fd-baa7-0e05494da185 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:78f64da7-48cc-41cf-8ff1-547728595469 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:3a881eba-efe6-49b1-a9e3-396e88e9b4d4 phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:df055c19-28f5-4634-a6e0-093d6bc09d4c phenopacket.store:FBXL4.PMID_27743463_S7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:ba2ae917-7055-4c28-8b8a-6962ad223727 phenopacket.store:FBXL4.PMID_27743463_S7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:998458c4-035d-4c19-8efb-801ab27183c2 phenopacket.store:FBXL4.PMID_27743463_S7 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:7ca4f310-b1e0-4b0a-b521-7943122a072d phenopacket.store:FBXL4.PMID_27743463_S7 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:01d2d7f9-bf68-4d98-ba65-ce797b6d3167 phenopacket.store:FBXL4.PMID_27743463_S7 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:75b9e435-6505-4452-9de9-440033a377bf phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:fb0dce8b-6cff-4298-a0d9-f8ea2fa66a59 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:e687a61b-8c7b-4b25-8022-bcf94a50c43e phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:695fc3ea-12ac-4d67-b1d1-d592977b4ea5 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:c8f1b35b-2592-4bdd-8850-1afe8b32a491 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:c82e0952-1cb0-4025-ac7e-43d3f0245e99 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:07c45c30-dbfa-4484-b48d-6f9ed5127207 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:7359250b-6362-4a82-a2ae-f1c56c41523d phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:b9021537-df80-4a37-bfe6-5182f947322e phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27743463 uuid:3d8b6cc8-669f-4bec-be53-4f1dc73c179b phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:1c999706-e6ae-413d-aa3e-73233cbdfced phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:79743f10-195d-4646-8e0f-8cda1d5985d0 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:1174ed9b-f2a0-4695-adc6-75cf7bb0c99b phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:6dba098c-3582-483b-85a4-f58dbbd8a244 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:431b2593-fdf5-4c0b-8183-8812acee3d7e phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:0850cfab-233f-4591-941b-576a58022f02 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27743463 uuid:809119a4-ce21-47b5-84d7-f3afa37126e5 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:27743463 uuid:70d62b4d-8b2a-4f85-a730-f3b36dfed054 phenopacket.store:FBXL4.PMID_27743463_S5 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27743463 uuid:1c776eea-c56c-40f7-9391-a20d07825965 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:52348c4e-7c5d-4ae8-8807-6f07782ef825 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5903cdae-6147-4df0-884a-5196aeca33c6 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a53e1e19-b8dd-44fb-b70b-29fae193a6b2 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1b162b8d-b1b1-4d37-99a2-da35b61ec0cb phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:16629420-7c0d-4479-9a51-6a01ff5ee2ee phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:64cc66d8-195b-4f26-9906-1d6306a559ca phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:02f8dbbb-16fa-4164-bf9d-b55cc069eb8d phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1d454031-d7e0-4f58-8c3c-614d63b21a20 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a404dea1-21ed-43af-b8cb-4d55d4a32021 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:b0ce2ad1-d25e-425b-8f03-82a8f7275955 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8ded3fe5-e897-492a-a601-32c47a9d2c71 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f54f1895-a044-4fec-b389-563dbd60facc phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:8a03d6a4-078e-4626-9381-7e551a9a8dfe phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:208a9771-cf3e-4ada-8dfe-18aa09011e33 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a4b2c211-6297-461d-b544-6a443af03396 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5fe60662-2d74-4f24-9e8c-2a2d41906fdc phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:bb30d8fb-fc0b-483b-8923-5e4b40ca7863 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:39c797ac-67d4-497a-95a1-91afcadd7bb1 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:98ace157-fb71-42bd-9447-cfa3593cf990 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:51d65922-d753-4db7-bd6f-3d9cf68e481a phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7157f71b-761f-4a9d-afe3-c7ac47d23cd6 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:11a2df7e-ffb3-44d6-834c-72a95968dd6c phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:a8f94aec-8ee7-4be2-ad19-aa0f812212c9 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c8a44511-d17d-4891-a351-5aefcbd11c54 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:20c337fd-aa83-47b3-8338-fd99789fd31b phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5507e7d3-0418-467f-aa7d-66832445dc4d phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:d83644dd-dd01-4f19-aff3-af3b7e7a760a phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:25981483-afc3-46c2-bbab-25b39d640713 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c14b4639-120e-49a2-a0e6-4e38ec8c81d0 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:90098437-4294-4e15-b1b6-6dbd81dffbb7 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e6858fa6-bc0b-4349-976e-116bba67c3ff phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:92dc1f73-7102-45ea-af10-ea8d56f07581 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f039b760-2ede-4604-a9bf-7b76dbba0fae phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:49b9679a-cb85-4d2f-9ba6-bfb6e111c90a phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e026cb96-1ed5-45d6-94d4-bbccac147c1d phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0981613c-ddf0-4a96-9965-bab7dd8328c3 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c5a94164-fb0d-4c79-9fd8-705a2ef4e093 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:01a96c21-ca98-4a5b-8e2b-89d5d70cc5f9 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:04607679-edf3-4689-806b-c044bea5e9bc phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4a69edaf-d113-4d31-98d9-df99c3e5b56c phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:53eb54b0-14a1-497e-bd91-35d83cc50139 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bb944902-c63a-4a84-996c-e5b782200a31 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3e104b91-192f-4806-8ca6-7857ff1aa817 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:84e6c3a5-c8f5-41c4-8e4e-0a19bf6f165f phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:17bcc1c8-efc2-4f4d-a342-f7e0d7b9420c phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fa061962-c6a9-4ee9-8bae-5cfa7be3c265 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1d30546e-d5fe-485d-a1d5-a2e273769877 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1b19ef6a-f70e-40ab-9524-b81400388b10 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9582e519-58b4-47a2-8859-25bb1061a7b5 phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d20211a5-9f08-40e1-a8c9-5e40fc5e816c phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:a8e81967-e22e-438d-9f6d-57b3a914a52c phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:c25da214-fa1b-4016-83b7-ef0c89beb54b phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:97212aa6-b73a-4233-ba32-063e11811d9f phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:84851679-61b5-4ab5-990c-b9b8a7c634ac phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7f00a905-db7e-45f7-a469-5343ca542f0b phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ea2b1112-0670-43c5-9a7f-5876e09e718a phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:851a670c-fdea-4b0d-baf8-1395e9ec1078 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:428f5658-ffba-4ba6-ae04-69a7f09e9c65 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:dd5fcdb6-22a6-4433-ab7e-f8b67de91fc9 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:d41a84dd-9d82-42f6-a85e-96ba5fd69e09 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:05061b6f-3811-4811-9037-2eaf47599126 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0bcb6a36-daa7-447d-abfd-c35eebfe2823 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:eae7ab47-4e8d-4ede-9b3f-904853995f80 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cb426c87-ba64-47ba-a333-5ef1b40ec492 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3d53a1be-af82-49de-b3cc-7a2abadaef6d phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a477506f-970a-442d-bee7-3fe0ae05ad29 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:120f0030-f835-464c-a31a-e4057d820fe7 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d31eb6a7-97f8-4dca-8307-536348a76cc6 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2b8add03-a57f-4eb7-8f01-8d8e8e141866 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1c32933f-cb54-4607-bfb6-47f705f5c0e0 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:25d43d96-fdc1-4a45-b9b1-885c3477a1e2 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3be75bee-fa19-47e7-9c48-6d85bcfb36fb phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bd713d98-8ae1-4fab-ab51-20183fcfe0a8 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0cea96e2-a541-4478-b9b2-1a6cafaf7f56 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:40bcfa3b-1f0a-478e-bb88-27cee85740f8 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3cab525c-1d10-4023-9db5-902729101f47 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:df1e1101-7a8d-4804-a5cf-c143de123cc9 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2217ddaf-1eed-48cb-94ec-88edf3648b90 phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:10ca3e0d-b6df-469e-b35c-47b8208b8c1b phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:86b82376-e350-425f-b561-38ea79a88b91 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:e2b8c789-9877-4c13-af5c-71a70906c9a5 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:9b4aebdd-43ca-4052-b8d7-d195636519b0 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:dcb0d4df-df4c-415c-9fa5-9120f5508455 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7443f0d1-edc0-4576-bc55-12d564533c04 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1b10da57-a6f2-41d2-b6e9-4b05bf3e77df phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:e354c806-423e-405d-af74-d43103c6a360 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3f410b3b-d9cc-469a-a0d7-a7c5a96604b9 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2f4f09e6-9677-43c1-a9c9-abcfd446cfef phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:1216a779-76fc-4350-9541-35fcde4c9b37 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:72f6da56-4363-4753-9c9b-2ad5baafbaa9 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8e91708d-3a66-423a-ad87-094d9e7fa1a3 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:f9353a7c-1550-43c5-a1cd-2b82dfa06372 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:61a3725d-2b16-461e-aa89-35f51c95195f phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:37602bb3-3cfb-46c3-beb1-1e6fb87dfd42 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:6103fa1f-9579-461f-bdb9-bf4924cc04ac phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cbf97518-9344-4583-996b-c031c720828f phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:02c2aef7-7b25-4fb8-9a4c-402076780615 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5d2daeb7-d03b-47b0-b203-7511e39c98b8 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:02f266f7-cd3c-4c3e-bde1-5e09dcb884e3 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a305eb20-850a-40b5-992e-3acfe019e712 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:98c09c3f-e20b-4c0f-a98a-ba830de8ede8 phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:ac6eb668-02c0-4c88-b6b1-56dcb4af0495 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:40a12dc0-b09e-4f9e-a9e3-de889e62101e phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:00538a0c-e707-44b5-9d98-4ab2a97fecc7 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:81da8e63-aa61-432e-a7f1-74a87ea7b68f phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:399cd3d4-aa11-45ba-8ab4-b0b70caa6123 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e0b513eb-deb9-404f-928a-efe6a84edeb9 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:51d15217-0185-47dd-81a4-dcce76dcdb68 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:28dc7d3f-0d4d-4041-b1cc-c8522eb380aa phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:99894c44-bd19-45cc-a93e-5718d1e68aef phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1ef6085d-a8fd-4753-9c36-80492eee5019 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:6162cfcf-ff21-49fd-bfa8-5075224f3ef2 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:eb02feb0-1a45-4089-9a65-9321a814469f phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1d479e77-e076-463a-979d-0ee236068f27 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:256feae9-9b4c-4fe1-ba92-e37ec91ca0d6 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:11dc02cd-3be1-4993-8fb6-1285833486eb phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2e5c9c68-3776-4b5d-b4b3-ae816e80c299 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e5199b45-a628-4693-bb74-9c7b3fe15362 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:406b2efb-4f6b-4c87-a11f-de8c366b842c phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e13ef85e-8551-41b6-a8ae-1d48231dc685 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e2ed0c1b-5e69-44f0-a71c-556fc4f86ea7 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fd993392-69fd-4687-acc0-88dc060b1f2c phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a43a24b6-dfd3-48c1-a3ae-15ec478fe18c phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:594b914d-f26c-4d02-a155-116fbaf2e640 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:543acf70-1847-49d8-b8f2-cfcad066d832 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3d086e50-0ebf-4380-b527-ff34e4fef747 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8a0671cf-32a9-4336-8f6c-699bda04cd6b phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8f9f9c3d-f3d4-4b01-aae1-753fe8f24206 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4396caa4-ee6b-49b8-820e-bfb5c6108483 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:24e2cdd8-bbc3-41fc-9b01-2b1496ec0a21 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:02b1e635-687d-4181-ae45-30e2fde10e54 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f7e904ff-b1db-4fd9-abd6-234de0a737a4 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2377e0ae-79c4-4fba-830e-a13ece8e29c2 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:00b8ace9-beeb-49b6-ba4c-bcae74cb3ada phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:88ebe7c3-3608-4cd1-bc69-b88ee190f28c phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:71b5616c-03b0-4b54-a5ad-9fdcbb92c264 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b838f3d7-f5ed-46a4-84dd-3735cbe4af2b phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4de4ae5d-9f72-4d52-8f72-e20828b11288 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:244df43f-0404-4644-8aeb-938b15edc845 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1ef7b6cc-4575-42a4-a902-c24cc4a7ceaf phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fee7ba42-5b18-4623-83c5-31e5ef49f1de phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a7db11a9-e108-49bf-b9a5-21a18008c4ff phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e4f7e641-610d-47f9-bbcf-929f5baed987 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b66e2bf8-249b-4a39-a633-7ce5d9635524 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9adb448d-d4d5-4aa8-a2a2-60cf54ff256b phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7bb6a56b-9300-4c82-a288-650a65efd0c9 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a5a5fd15-04c3-40c4-bdc5-30fa2263961e phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7e3a1026-9998-435b-92ca-33b2a46e6290 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b91ce1e7-aa5a-4346-9e8f-37ff75c1d8c2 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1f951ff9-a292-4b4a-918e-fdf2a7baec20 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9715a0c9-b62f-48cc-94b5-34942c19ea54 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:efad5b58-178c-444a-b2a9-f97592448737 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:523cccb5-1823-43ae-8e8a-dbc4ab02be0e phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:c242fc60-c59e-4cc9-9482-d43d490bda66 phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:a65dc76f-ba8c-4741-93df-48445b47a9a0 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:47c5e75c-b54c-47e8-a34d-ae70853a6b94 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1a76d5f5-7b29-4b88-a418-84258be64492 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:cc67266b-4892-4753-80e8-bf83a4fb60a7 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e1d6a311-2069-4114-a5af-49b26c7b0b52 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:73ebc0de-c035-41c4-bb20-f907c76e1359 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:2fa46c8b-ff35-47b2-9471-c8a4846252fe phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:19c3f8dd-bba0-4d09-81d7-20930b2b669b phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:34be96a6-9dc7-49c4-90bb-6f29eee80039 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0fbfc019-7695-4e02-935a-d6fb5e0bcbdf phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2ee5c8b0-c367-4b54-8d27-4c23000fcaac phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7f4cb0e1-da3d-44a9-bc40-249b3c9940c4 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:265ca6c5-5097-4be9-bcc1-ae659477cadd phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:81bbc759-d769-4773-b319-ce796399738e phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f0be2bf4-b111-4020-b752-1c15eac0b8a4 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:09a6a85b-16af-4426-ae36-784700b7f338 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d1115138-4f3f-4237-8c6f-3a7bf62d25a9 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2e6b210a-a439-48c4-b33d-24dbe31dfe1a phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0614fe4b-4551-4378-a57c-5786ee6053b3 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ae0537ef-33d8-4d22-825f-2bf9934802a7 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a0628aac-0a71-4cc6-973e-5e2d8f8b8f72 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b10046fd-4693-47c5-a0bb-f3aeacdffcce phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a12f34ad-66d5-4db2-9569-1d6d905587e0 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:850f0608-2238-48a9-b3ea-ce5a689743ec phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:65160e7e-1310-4ad9-9862-bb86813db877 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:68f1e771-3693-4562-95be-236aecdb6ea5 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c0aa9219-0b86-4373-a250-9761a61133aa phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7f1e2b94-e266-4399-85eb-29a51dad202f phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2e14b0cd-313f-459d-96f1-66d06a7cc525 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:000d832b-17ab-4170-83a0-ed3f36c5d0e6 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0234ba09-d409-4488-91d4-c914c91cf809 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:52dee16a-6f78-4853-b33a-c4007d48376e phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6aa6e686-c5c5-4f17-b871-c79b47435bed phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:011d1d65-39b4-4481-9dd2-9b4a4d3e053d phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb5d83b3-e766-4c36-b388-b7c739e0d020 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8a4e7208-eb4d-424d-8f23-24d6e4b4d2f4 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e29cd351-1728-4f2c-8b24-304539946f5a phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fc3f6b6f-d5c8-4819-810c-8c48ea7b4467 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e6166a2c-d2b5-4b02-97d0-0a0abfaaac4a phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:bd2815b4-74e0-48e6-9b45-d36c2808468c phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cd2b0598-850a-4901-a5b3-71ac20b74501 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9fd7e459-b1e9-41da-8a64-78c0e7bdbabc phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2edc2054-7a48-4073-a35d-498c5e74d40b phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1c6d036a-c573-4b7e-a07f-e7791e4d9383 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:149ee093-0f17-44c2-865d-fe546e3e2363 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f74b68d5-4450-4185-acc3-bc0bcaf4d80f phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:28940506 uuid:b3870be3-20f9-4b99-a0df-9f74fa7b9855 phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:0d20475d-dd1a-4b7d-8646-1033cb0642f6 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:9660e135-9cde-4777-9767-beb6cf8d42f4 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:27c67826-f632-4cad-a89f-1b5fb98de9f6 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:36bdfc06-4420-401e-b8b0-4f22869d59b4 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:f7cf6893-a5e9-4fd4-a26e-e324c86ad695 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:f9f63346-b898-45a4-a4f5-6a18c564e682 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:a860da19-1429-4f49-8a96-ad45c73941ee phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:888d730e-9c74-4ccd-aab5-280129e04ce7 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:05fdb896-c6a0-4c14-894b-7a0cd6f4657b phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:888c56e0-36c2-4d2f-8f98-09acb266cd63 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:d868702f-8c63-4495-a149-2e8c069e8063 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:896c44fd-f749-4c59-b36e-4c9b8c23f958 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:9d0f3a05-17e7-4760-9a00-3a986284f67e phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:669429a5-a7d6-4d6f-aa09-b3d7b1f29e90 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23993194 uuid:e8ab166d-5518-4bb3-938f-6e67704d16f5 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:3cea04f9-cdb0-4ddc-83fc-d2036d73c583 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:24b30099-b10e-421f-be26-6e472133bb08 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:17bd19d5-b908-4bc9-b65c-733bcd14d898 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:08a50852-7c47-42eb-9b20-8da1b3d421a3 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:cb7bc0b1-db3b-4f0b-8eec-26fd785315ee phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6eab4eed-01ab-4355-a152-b3cc4c200b03 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2c5247fd-45e9-473b-ae9f-4bf8fca8c5a4 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9564fa33-1cd6-4bd1-9c34-4703ad0c6ce5 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:f04df46a-ae42-4848-a2bb-1d3efc87b8ea phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:77c41353-0e0e-4938-b541-3534ce8a6926 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:ac0ebe83-e6cb-41f3-a94b-272e5a921664 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:6922fd82-85e4-48c5-8115-7d6fb0782723 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:3e6c0528-9b31-4194-b0e2-f6162c59df76 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:3baf3fe1-af8f-40c0-8549-b163c5658829 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:57a324af-e98f-4f7c-bcd3-447b0f9380c2 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:e10dbcba-ead2-4b9d-a07d-244d1423aaca phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:571ac8d9-40e2-4b6c-bf09-3c2cb36b430e phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:9e5c14ef-ab68-4896-8ffb-1c916613075d phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:a1ca241f-2950-446a-9003-8f3c79104f44 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:c2b5411e-5501-4ccc-9c95-3aab6865c6d5 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:dde16bf6-9b33-4657-bcc8-083d075e4e01 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:173b205c-d442-49d9-9095-a557a3eecada phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:4ad04352-8257-4174-93f2-c93a727a4c35 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:3cd35a48-0309-4d4e-9dc5-4295c15b8536 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:87bb105a-011c-4e7d-b0b4-2f7ce7098832 phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993194 uuid:2668635a-3cd7-4eaf-8131-52cde515a53d phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:23993194 uuid:bfd4cc2c-6f73-42a8-bbb1-596238b267aa phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993194 uuid:2fa474aa-7bef-471c-b0d5-fc966c54310b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5e15be4c-4535-48b7-a683-440e1cba889b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3dbf5ebc-b24f-4285-894e-ace2135c5be5 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:5819c5f9-64b1-4d4f-a759-d1bf187a800b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:3e0e9e02-e800-4610-9555-616377f07045 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:f2794358-8d49-4d92-b631-454767328b2a phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c95884d1-6162-4174-975e-8c21de09b6ec phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4405c996-1625-4f6d-9db0-afd05a7b3fcd phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4f49dd4f-8771-495a-9b83-d5e9949bd0c9 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:e8b7c18b-e459-446a-89c4-6f981c2f12d0 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:7e938a46-67fe-42ca-9841-404f4e4cb423 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a0e791d8-2234-4a76-aa9b-387b91391071 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6f5862c8-420f-40c3-b837-1b18375b34e7 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:efa66d56-877c-45b1-ab39-c44723606c33 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:2ceb4208-3122-4be5-96e7-850bb18ea76e phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3f73974e-7144-4324-86d8-0edeb8e0979d phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:937847e9-7b2f-451d-8bc5-d61d87ee1c29 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8d7b9baf-8719-4900-bb0c-31366501e083 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:29ef278e-9c6e-4be4-b847-3f565b7004a1 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e3cf8e64-dfd1-4d92-9b9e-a60cb63ebec7 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:68cc5c3d-9cf3-460b-9841-4a4743789782 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:de5ba7ec-1bec-4e41-8cf3-cebca2b3e230 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:510ce962-0d19-4165-a158-a3658ffe2b6c phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b88a71fd-99cb-42f3-9aa4-0a70acc2001e phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:69120039-59db-4d82-9fb1-4a3f30d0d91d phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eaa75436-4687-458c-ac07-d04f0f4b3d3c phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d65b5b71-37f5-4131-97a3-451999e0000f phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e914ede6-95d9-4060-8639-471335f655c0 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:db98396b-41f4-4769-aa6b-13416aa2f26a phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:890cd515-0a73-4e53-b834-199e8b208311 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:075a0c0b-6487-408a-8dc2-3666e8588652 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:523ad1f3-d9c8-4ea5-8cc2-295e59f007ed phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:28df0571-2c46-48d0-9918-f9e1f588f4e0 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:75c407b3-6763-4658-8521-8ae798a39f18 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:adda25c4-f029-4679-9cb6-7262daa4e3cc phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:b7911f87-9a4d-4314-9653-84123720554b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3b90e87f-a740-4d0c-ad6f-a5b37e7aa073 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:3ad66294-2520-487a-b327-4cbf121fb564 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:741272e1-8929-4d1e-ad7b-5c8f3aadd755 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:74fbc898-5d9c-47e9-addf-cc8ade718e45 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:097d0f0c-bf76-43c5-913d-de06835bb5b3 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a89c8dfb-2e0e-4639-9abe-4ab2a72609ea phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4b6bb2c4-3e50-443f-93ed-20aa8ecb3c89 phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:f763be1f-5f33-4c50-b3c2-0ce6f4f2d19b phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:c7248d13-c6f0-4bb9-bdb5-3c0888f15cee phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:2031d33c-672f-44cc-9eb2-88ab68245724 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f757fdf3-5281-4940-9846-1b4515839238 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:08936952-37eb-4cc6-ae3b-920c305e061c phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:09ffbfe8-c3e8-47d7-bd30-3382c2947d89 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ecf3e8d1-91a2-450b-8dd0-b5df0c1a7697 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:36f4ac97-9b4d-4b2d-b18e-b99f688c6f5d phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:58b4b874-e579-4a27-856b-ec51ec4a5b94 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:42b71bff-5cd4-4425-b557-cfaeeb5e1df6 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4a54039b-4239-469f-b2b6-fb150e168732 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5f4a0d00-7f2c-4717-82b8-85da6fb5f675 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:570ef0e5-8cd5-4542-aa71-fc4bb193f254 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:03557ce2-5e17-40b6-8cee-22a54f0f0375 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a09456bb-737e-4e45-bb7d-2bc7e61aed49 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d34502ba-1041-444c-9dc7-d5f9fe930cc2 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:95715826-06dd-419b-90b9-bcb35e4dfba6 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ae0d876b-6602-482b-af7a-8fd0e8d7a42a phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b1d45137-2284-4792-becd-f1f303e35d77 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:748d17d7-9ac0-4fdc-8ba3-7f805c0edfc7 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a5d2d956-cc46-4127-9da5-9f05b56badd8 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ebe7a92e-cb69-4dde-9e07-ab78fcc79e57 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:72ec1853-663a-42f2-a891-83890fe08e5d phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3e57cc94-0e3c-44f1-bf01-7f202f107b02 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:be5471aa-3428-4b14-96be-9b88b2233958 phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:bd0975b0-9f93-4297-b7f6-7ff0e2afad5b phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:b7a3afe4-540b-4e8d-aedc-6228b3ace0d4 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f6432b68-e254-4cef-ad60-b5ea2231f37e phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0011925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c6568557-e245-4463-9312-79edbad0cb60 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:291d0106-dbd8-45e3-956f-32b956871d35 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:c989c9e6-de10-4422-8aaa-19fd97e0ba9b phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:73cea224-6d7d-4e4a-875e-835875b552ff phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:906daada-616b-4ceb-a537-4b576324655a phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:7a40bb6a-5615-4d79-b2ea-5f937e4b754e phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:f25360a3-891c-44d0-9a7e-1f4254ec5422 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:e849d7a6-f4e2-4b6c-9995-5242c5e7c307 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:5a4ee415-210e-4819-ae1f-37c9815046bd phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:51e36df6-1a71-4cb2-ac7d-06e11bf6627e phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b26079e1-d92d-4820-a334-947306e7a69a phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:07822dee-bb42-40cb-93f7-9c2ae6e230e2 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:ce7ea07b-5e08-4946-9008-22d0d2b002e5 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:764ed0cc-850d-4183-956a-307b7434f146 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:b0adc2e2-c45e-4713-971c-f4c1abd448f4 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:3430cecb-12b4-48a1-89dd-65ab5aab0ff8 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25868664 uuid:052dfab0-7e69-45f1-8af4-98132103bd03 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:33abd9a2-0dbd-41e1-b1b4-69ec09047b47 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d99a054d-303f-43f7-8653-2b8c6743ddcc phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:7953c056-00a0-4780-b167-57a9bda58cbd phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bde07e0f-213c-4b9f-b257-7986a11e87a1 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:2dd9d650-e54a-456f-945b-8d1ad73c47ee phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:141b18a1-b0de-4787-be61-f1ae5dae0dfc phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3fe7b528-bd05-4904-8a03-851d1723fe81 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3581a1e5-e0d4-4950-be81-c1faff6c5b86 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:936b0867-598e-436b-b9e7-508641ef532e phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:646e6dcf-1897-4bd2-80d7-4e38a0b11fc0 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:10c24653-3384-425e-8677-6046aac6bbcb phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:a41f6a9c-2067-4966-8e17-7a152654f57c phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:5c185049-9c66-4417-ba00-4887c5840ca5 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:bec14b25-6b24-421d-bf2c-6cc70b9886b0 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:0df66639-9f2f-4e84-ac41-1c2c683087a6 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:b30d53cf-b78b-4a91-b4d7-094345f308e3 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:cd676a19-d074-446c-9839-0f4147e436a2 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:942ee3c8-8e3f-401a-a20c-24161a2faf0f phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:950af735-8aa0-4cce-8152-372c332052de phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:9231c7de-39b3-467e-a74d-8881901a1966 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:adb94dcf-8fa4-405b-bde0-c8cc0ca3590d phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8db451d1-9c97-498a-b34a-c6bc629324c3 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4e28bcd2-aa67-43e3-bd7b-312c40ca2443 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:3ee1685c-1893-4328-85dd-2aa180144f76 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:4f410680-edf7-422f-8c7a-0072ecbd1f1d phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:40e2e85a-2b00-4fc0-955b-32b1202aa8c9 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:8d1d4e45-5609-463f-b04d-9f8c93828c56 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:62f482f9-1b20-4b80-a7c8-50d99800b50e phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:d4374b77-dddb-4087-a61b-2fbb336cd4d9 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25868664 uuid:ddd173be-d27d-4cb6-91ff-4d08ab1b5715 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:eb00d590-e33c-4bb1-a323-eb14250cb835 phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25868664 uuid:99de0efd-9d4e-4842-999e-99c12e9c067d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:018110a1-5752-4868-860f-3f650204b0ac phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:1d73dce6-7588-4e68-9ae0-3a493ddfd3fb phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:93779bd3-b7b6-4b04-b0cd-a7c688fe2d9e phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:4ae12294-9366-41a7-aee5-9e6bdf9e449f phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:79602560-437e-4e42-919a-d3a508221f9a phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:c3fa0ede-935e-41a3-ad3f-6ee5db5203fe phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:37e81f4b-9f7e-46d3-8895-aaa32c10b319 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28940506 uuid:be80b639-c8fe-4840-a5de-e60964c7745c phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e1cd517f-0c04-400c-bdf0-df517b5c5f4d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:0a48bf0c-ba48-40e6-89af-6cc579e29639 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:14f33a76-e7d7-4b93-84bb-15b05a89a73d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d61f287e-fcad-4abd-9aaf-44a624f6cf2f phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:c970b275-5b5c-4b37-b6fe-297b104e3ac5 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a397f2c6-a889-40f3-9ffc-1cf75e9c4fb5 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:304c2995-81bb-47c8-bc38-0cbccb8ba5eb phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:aaba8901-2144-47b6-9add-2a33662820fd phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cd12c59d-0cf3-4c5f-b6f7-213f93bbbd56 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4d45cdde-c254-4649-ac56-f1b813e9225e phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e8265eed-f062-494c-936e-94bb212b88cc phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5a83b68d-a4a1-41ef-a359-45f8468f22ce phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:53743f5a-caac-42e3-95b3-0f6d14a50ae4 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:cf86bdcf-e36b-4e84-b59e-1269ca4f3aa8 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:5463a573-5c76-42da-9eb6-4eec53df7914 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:f88c26d9-5f9c-4f5e-b149-52cabade76ac phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:970043e4-80d2-4161-8d70-41a2d2d347ba phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8404134a-b52a-4775-8a16-8a8e7cb3a25b phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:827b2220-efbc-4de2-b9dd-3325b5bfb451 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:d024c7fd-05b9-485d-a331-d10bb1cc1819 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:eb17b68e-0fa8-4481-abd1-c1896fa11c5d phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:145bb4df-5c2b-4d3e-b4c7-7141a3cfb872 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:e74b84d0-1d02-474e-80dc-e70c5d5ca2e4 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a85c252f-8e7d-47bb-8957-a5668bb2f0c7 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1e67bd97-343d-45d1-aa9b-05db8a7d8399 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:fb47ff1b-7bf8-49d0-a279-4f59d0b5ecf6 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4068888e-6509-4283-82f2-1cfb7064621b phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:1fb4f787-4909-4304-b077-70d2e26c3a2a phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6976aa7e-d1e7-4902-9ad7-c7535324ed1c phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:225c781d-31fe-4506-9acc-b1989cf28e47 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:9ac730de-84bb-44f5-b57c-70e376d3788a phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:450cc0cc-4420-454b-94df-6ffed40ebf44 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8d935427-af6b-4f22-98a5-72bdcaae9d58 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:ba17e417-c9fa-46b0-ae00-2391168ac7ff phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:8f0a3037-d637-497f-923d-bc41fd33d470 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:20d0e4a6-5d92-4fa6-b9d1-de4d047d21b7 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:75afcfc1-1085-47c4-863e-47fa774a35f3 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4b5e599d-1bf8-46d2-8553-d91f57ccb8cb phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:7c927fc8-6704-4974-9e1e-17cfd99a5758 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:4d4bdac8-6779-4838-b032-6a9b5e4588f2 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:a69dcbe7-a12a-488f-b861-98533597c155 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:08d64bfe-91ea-4136-83db-57a64e6155ae phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28940506 uuid:6cd3b644-0082-45ef-91ef-75ce99f12313 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:28940506 uuid:ac822dad-8c36-4bf7-8cd3-79b818a3c372 phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28940506 uuid:719dd892-750b-4d21-b8cb-8285a623a72d phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:d5019722-5fa4-4cba-9629-95a7afc4aa67 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:58e3005f-47a7-476f-b13d-93c1deeedb44 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:d137b058-67e4-493b-8e18-6c31f633b94f phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:91d5cdc8-d624-4867-b15e-92a97c4e8b3d phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:3ff2ec8e-c384-4a99-a1e8-095bfb030bb8 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:f3b473e7-78d5-4770-b4ba-b8f901e4ad89 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:922f764f-0125-42a1-b113-328170e34658 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:b3887c3d-ef90-431a-b248-9bf065ddce6c phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32559514 uuid:d0dd3be6-f957-474b-9de6-3d5d891398e6 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32559514 uuid:810f1616-1408-43a1-9c65-542747076119 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32559514 uuid:42b92ae7-052c-41a3-ba0c-e47aee3e3af7 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_disease OMIM:615471 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32559514 uuid:814ba556-41de-432e-8b05-fd6cb3ae0560 phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:has_gene HGNC:13601 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32559514 uuid:376f64a3-8a85-4eac-a5db-61895768367f phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:1f0dc6a9-b017-419e-a043-001d9845b797 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:80adb667-623b-4cf8-b0a8-e56e3019519a phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5e756316-3cb8-4453-b951-d8ea8b424d79 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c3a3c9c9-f723-40fe-8d7e-9dbb9a547720 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:74c34a1e-301c-4586-a26a-53fce279992c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6e57e556-00a7-479a-ae25-d98976c96a82 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ebb5cc09-8165-43b5-abe9-6eb72a294a46 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:267bed75-f154-4d5b-817d-cee00c8ec928 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:850771a0-d6e1-4c72-a84f-ffc4e74490d8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9d57c460-3c98-4001-986e-ac355ccb0542 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b7158fea-3d04-48b1-b7dd-fb11cf600e18 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a881cf5c-ae55-475b-9627-d072b2009f43 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cafb6ed1-4545-4c51-bb70-a9c1a2bdaa83 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:380b80ff-d2de-46f2-a848-858f796b99d7 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ffce5795-f219-4235-8378-85300003de21 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9f3dc753-b215-4d3d-8382-ac8eaca7b1bb phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:762f2b1d-59c8-46c9-b285-8960c79d84b7 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fe0f95b6-8251-4a3c-9df5-537231c93154 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4bb63b1e-8484-4dc2-8936-ad0d6be90124 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5323028b-2058-4a6e-9704-1100c773f1b8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f6a8f0ff-6dc0-41fc-8f0f-2d6ea73ca329 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:32aa2dfe-ac75-45b2-87ac-8830e3859791 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fbd370db-d543-4509-a0dc-3fe2224ebfdd phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2f7943b4-fa72-4737-8591-4473191073c9 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:089d4fb2-6cc7-4d98-8170-e4689649caf2 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:00eb3b96-fdb9-4e68-8c6c-04e880569a46 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0cae499a-fd99-4898-9ca0-288d31465d8d phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:83a6c469-390f-442e-9c3b-0be1ec297d6e phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:05f13b02-194a-4652-a574-c506da923d90 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:090a6412-6d43-416e-97af-eb9cf0130928 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:194434dd-d981-4005-939a-edd0346f47fb phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8e00824c-d758-4083-9159-a31abd959fd2 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6e297ce7-6b51-4e6a-8959-8ae87212ce03 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9b77c041-4c1d-4305-a280-a93b84179e36 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3a09e4fc-03e5-4c52-893d-d785e1013f86 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cdf24149-d082-448d-8572-75f62c06633a phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3554074c-e473-4f16-acbc-0eb3cf8e723a phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d643c77a-1af7-49ec-88f7-3b8f9a8ba4ae phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ab461aa5-008c-4665-b900-36ea76c77165 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ae7c2155-be2b-4c3f-a2a7-93f4b14db3f4 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9749b205-f61e-498f-8f93-5b01c7bcaf54 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bc1957be-9005-40ea-9656-401378771a40 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:19a23bb3-66c6-4432-8f8a-9ead6b41e981 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bf48446c-1596-4b83-a738-725042db68d4 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:39ee338b-d2b2-4c43-afec-e57b7376584b phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d7c7a853-b175-42a9-9c7e-64d7e73a2745 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5b02afcf-cece-4779-86a9-1c199facbb16 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dcdc098d-a9a8-4a41-8356-8c1c5ce6028c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:901a8dde-3b35-4085-988b-714404219d7c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8040a839-f217-46ca-ab43-565585563412 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:122615b6-4f55-4fa0-93a4-98f62ede106d phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0f9ffa10-c570-4a21-926f-9be327c42014 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3719db91-4f33-4adb-bf19-75ad01ef1af1 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7e94a0c0-64b2-4a1f-8078-4bce3dc4611b phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:51fcb2c1-c6cd-4bd7-a920-08583c6960d8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ab41d76c-4477-4b1c-a039-f2e923c463bb phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ceafbace-7823-4ebe-bc0b-561bb658aa54 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b922db41-6a55-48ae-89e2-09eeddfdccea phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7718f89f-10d1-4af1-9707-da7adda58405 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0eae4111-83dc-4d70-aa4a-2e60dee38b19 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:062e4403-6205-4311-929d-88b099dbcf77 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c656cf52-a1ce-4c97-b70b-be6a9ab8f6cd phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fe272679-edbb-4ac0-9e10-ff8a7270e50b phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:64c151c7-1eaf-4f5a-bb9b-17843f4fca5b phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:76ab1cd2-a9fd-48c5-ba02-73b1dba6213f phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:32e3bd74-1c9b-4f68-a318-b9e6534a9dd9 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4d655357-27c1-43df-b9de-cc1ee6927c8b phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:951b1107-2b65-4ca7-9874-ab9b2105b2b8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a739682e-cbf0-496e-8398-9b6342d5d3c4 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e3d9ede8-68b1-4d25-a19f-459dc900d3e7 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7cdcdc72-c472-4018-b2bf-1e8f1fc60168 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:c9e449a8-42ab-4d06-89e9-927d5568cf31 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:9bc77f28-0961-47d6-9a47-ab2aa1bcd00b phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2e78439e-b3db-476d-a6a2-f3870c04fe7d phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:9e53611f-1cc0-4939-a44e-0bbd6f2ac093 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e1c44cc5-4995-467c-a08e-69de6e4d45b2 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b4217dfe-7025-42e0-952d-b465116f4385 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:acee7a92-be78-45dd-adbe-f06dbe2f215f phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:676a92dd-137e-4a45-830f-377cbc328a53 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:00620ae1-c4f1-4426-8836-470917a0d6ab phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:8490c0bb-eaa4-48d0-bd65-6a72eeea087b phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:1b9f5ddd-478a-47f4-9fd9-580c7bf67245 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:99b01e00-bed0-45ae-9c46-f04790aa797f phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:da8ebb17-699c-4bb3-86d8-71cc3290426b phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:8edec409-8515-4227-bfcb-74b1b8791d71 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:9032977f-958f-4739-9b93-13e6df5d2237 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:fdc1cac9-4dba-41c4-828d-7c84270b4945 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0623e8b1-04d3-42ce-969b-1b135e0e53c4 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6bb2bc33-6f85-466e-845f-ca8c41dad9a8 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5120e897-dcb4-479f-a4f9-709ad15dd119 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a5e88d60-c1be-4e6a-9d34-7beb33aabb3c phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:11c3241f-bf57-4bb0-80cd-305790d76010 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2678e7c6-28eb-4ad7-ba50-953975d1753f phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:042515b5-b7d6-4f44-9aca-6daad89d1498 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6b935fa2-560e-4dc0-8650-7d8ba5329346 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ce847cc4-8680-4935-b547-2e86fb2c3ca5 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2339458e-68b3-4dce-b846-9c76edd2bc8a phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8f704ae5-ce8b-456a-9c77-402b907c954b phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f89e3674-4605-4ac4-81df-8240ae884a8a phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8be6d286-80ec-4331-8d4c-4227df65b4b0 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a8404f2f-7deb-4ff8-946c-c405d09bde14 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4738d8bf-23ff-4034-bf9f-8957ead24025 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:83cabc6e-1043-4ae1-ac89-8f0d3c56215c phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0ed03f9c-f982-47e8-90ba-7ebe02213dc4 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8bb90a05-6277-4d23-8251-d1a2ff38cc67 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5248cb7f-353a-4671-8a77-0e5274f249ec phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8528fb8a-c0f7-432c-8ba8-4663d909aeaa phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4c9105e7-9c72-477e-95ce-c7c404ffda2e phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6fe074aa-b12a-4bc3-b6fe-3617d8130c29 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:012c6f9d-a244-4454-abd7-0d18cb6432d5 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:140fc07e-a40c-4cb6-9f9e-d81c8d7d3a4f phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f4d918fd-078d-4795-bb1e-4e3e1f17ec71 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1553d718-b261-4802-ae55-f20eacef0923 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:fcf0b777-d7b4-46bc-bb83-6106c6ee2869 phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:fb875d56-16da-4bb0-81b6-da92068e86af phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:17c0d2b1-09bb-4a31-8515-7197ca343c54 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2fa44f84-a7a6-496f-afec-1f48757434ff phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:60461d5c-57e1-47a0-84b0-8abb793e04f7 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:61f36a78-a782-4dcb-91d2-41f05b0b37cc phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:06b28a05-1070-4c63-a4c3-ca9008fdfed1 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:02903c08-1d10-486e-adee-631a9bcefa3c phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:9fde6559-6139-47fa-859a-5994b496c685 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:fae1c12d-f742-4dd2-af49-8057c69df116 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ccd765d3-d571-4378-91d4-61ce63049c14 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e60b0a97-1580-4de5-939f-34f37f660a5d phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b33a3ff2-bc03-45be-9b02-a5e49a9a3516 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:a38db0a2-a7c7-4eb8-aa7a-c25d75ecf2c7 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:f664f9f8-b4ee-41c0-acaf-21335fc49926 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:83a8ff4d-6f8d-4952-8abc-51da6d8d00c8 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:1e4d29d5-e36f-4346-838d-36cd3b40508a phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:be11ac06-c2b2-4f46-8317-e31049491ced phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3ccefb8e-e3c9-4d6e-b71a-2b96de2dfc85 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:739f0fab-6cb8-4075-bd88-532dfa073c15 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:97e80a5a-01aa-49c5-b390-f9db1994a050 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1181927e-df37-4710-8402-7aaff17497dd phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8225dcc5-b879-464c-8122-68614ddf97fb phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:402faa8b-fa31-4177-a557-ec9922bc6806 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f0621df9-1006-43d7-8e9f-6165f08e84a5 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:740bd6ec-f97f-4f8d-8727-667fda4927cd phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d52d3ffe-60b7-478f-b409-26b6ff4311c9 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d73aaddd-4bd2-4a55-a0e3-edec2e317aed phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e3062367-47ab-4c01-975e-1a9e92aa671a phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c510c37a-5b30-455b-bdd6-b873e74d685b phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ba8d6ec2-3c61-4978-bd62-72a8a7e5228c phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:eea56cc5-df46-4558-90dd-8e6236b86348 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9b668f42-68ae-4068-a776-e3727b29866a phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7b1b5f44-97d3-4c76-b42e-272366559cf6 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1fccdd98-95b5-42e4-a72c-a568ebd791d0 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:32515211-f4b3-4b57-94b3-40e4892ef774 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1bc057b6-87cd-4085-b253-dfb7e98c6f2d phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f6abe7c2-cabe-4be4-8503-638faefbe4aa phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dd4bb890-7800-45c0-85a2-645874f395ca phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c6784a4a-0ad9-47c7-bc60-f8a78d46e55e phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:53e3f21f-9d85-4547-ad70-83e0be679955 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:80bd6040-cf6d-47b5-ad4b-42ed4b9c8cbe phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:6dd765c2-4c3d-4bd3-85e8-3da68c4ec8c7 phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:adc5fd97-3687-4eb5-ab02-40a61695c631 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:d6e5612f-114b-409b-a812-24ac1a2b7b42 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:dd45ca90-7c3d-476a-b833-6ecf07f2d6dc phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:130d616e-a9a3-46ac-b816-cba73ac614f9 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5dda74e6-89a2-44a3-b447-de19673f50ca phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0520cc57-5c47-4ede-842c-877cb96113b2 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:84054397-861d-4bf6-ba17-1a5e80e3eec2 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3f016a53-032c-4b24-bfe0-a282707d7838 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ca267e3a-3b0a-40d1-877d-3e685150af47 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f5ee3318-2f07-4051-b5f5-eba47a608769 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2c376c7f-7810-4fa6-abb9-852de05e03e1 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e81257f7-7173-4f33-96f4-5f8504bc15e8 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ba6ee783-61f2-4bcd-b6ed-43bd72948837 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:776bcc26-8c2b-4342-9242-4f6c72992d18 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:615e3857-e4d1-4330-99b2-3343166ee25f phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:41452351-8424-481c-ad89-263e05d0d3c7 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fc453579-08a5-4885-82cb-e05052a06bff phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4ebdd8a4-4dd4-4a24-8cf0-b7fa6762b7b8 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:de710a8a-5817-4190-9147-2553be050099 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cd6b4f20-8bf7-4bb9-b328-f8bb88c76764 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9a88cf1c-a6ef-4d54-bf80-58d0ab5e0c05 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c02b9482-f7e5-45b3-8f8d-6d6930d5471c phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:78623963-9012-4802-b1f6-2c35ff8b1d28 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2b54f413-fd57-4122-8bf9-c47c7133b42d phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:649e062b-ebcf-4b38-88ca-e88d62d89c48 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:198ae015-6b79-4603-b65e-f853af921356 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:587096c6-75aa-4796-bda8-aab154d4ae5e phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:084ebe4b-85ec-4aba-9341-c70e33aaa96e phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a3c826ee-8f01-4da3-a11d-85bc1978a472 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:40419c30-fdaf-4202-beef-dfcacc770ec3 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9449b003-602f-44d9-9b26-8a9ad687f7f1 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:12b3d9d6-1278-4aa7-8e4b-67b359d6809d phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5bb639db-7c0a-4d3f-9354-399035af81ab phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:968358e8-d4fe-4991-88fb-fd67137411f7 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8925ed1c-0412-492e-81e1-dc19ef0735bd phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:384e34e9-050f-4f1f-b13e-17258180cd67 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e5998a00-cc71-432f-ada5-603a2f6561ae phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b0e6d036-d66f-4399-92a9-35547776e60b phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aca15a98-a2a7-4d5a-aab0-ca36187bc2dd phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:36c2c657-840d-459c-aca1-932b80169ded phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1b9f16ca-939c-4dec-9a26-44e2359c2f1f phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:68c23b4f-f9f8-439f-9afe-b68ffd1e36e8 phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:9ee31f12-569d-44c1-893a-f40489bbd4dd phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1c41ae23-4997-48c6-b865-d69295c5fe5d phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:388916ee-0659-488a-8ed0-ec34eaf4c616 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:dbb8a8b7-ce36-4c66-844a-a85b8b9eefc6 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a3bbbfce-e049-4ae1-88ff-945d26b87662 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:519cc646-1de8-49f8-9360-5f9a1ac50d51 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8b52bba5-99e7-441c-85f4-8c1c5d196b01 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c794451c-4a78-4731-b85c-4aab805d40c0 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8a329cea-c386-4ec3-8fb0-a822468445c7 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ab4a28e-8d3d-45e8-8460-7e94c8137a49 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ee96ca42-dcf6-4633-9b92-2663f6ab3b87 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1f8b8586-2c10-489f-b600-4062eedc6b3b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09fab115-3bfc-4468-b3f2-0d5bfa8458cf phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2adf457-1a8e-42d0-bee9-c01fc1cbae5b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0bbd61b5-138f-46b4-816e-0a3f923df7cc phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:20b69a3e-f77c-4a94-8ddc-b9dc0e8bf4df phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cdff3613-4336-47a0-aaab-c3af31af17a0 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3c6ca533-bbb0-4fdd-8b50-76b096d80c54 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f8b6e2a1-895e-454c-bd7f-e9abcfbfd50e phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3671c763-be4b-4771-afa5-bbe4803fd366 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:293753d9-e649-4a57-a8a0-5fc94e8391ce phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bfe24b01-d389-44ac-8b31-ab8b69070925 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d7c3004f-d18a-435f-b7e2-0f087366c8f2 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:10fe64a4-affd-4713-8ad4-5402b8efc977 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:84d49d5d-cf2b-40c2-82b9-c064c366ab53 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c97b833-0074-4c38-b6ec-b604a5d4ef8f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8208bdaa-4072-47aa-8156-a974417eff85 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:427f5d94-27ea-4092-bf9c-c01982241313 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ab5f5ec-9f04-4c9f-91f4-00f76a07171b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3f965052-af4c-4e35-84be-6dd5a98a3c6d phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a4163c9-0ce2-4ff7-ab12-158e8b79cb3e phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9c0c6600-0471-46b0-9921-eed4c83b2919 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:47318996-9882-485e-ae62-606fbde3f2b5 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:187bbe5b-7d4a-428b-b733-0f0eed203974 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6673b0a0-c3df-43b4-ba8b-92c03117a617 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1780d636-e8db-463e-b5b7-183be97e253f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:30faf3eb-b43c-4323-a5e1-a80516567068 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d944f58a-8ec9-498a-bf52-c39c43445fa2 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b817c103-448b-44ac-8bb9-4d2961ff79b3 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:63029664-9bc6-4c90-b243-6ed0e62656f2 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:850e69e2-4521-4a36-9f68-77bb63c8412d phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:baf26fea-5fb7-4305-a56e-4969aa5da68a phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac90c16a-629c-4e59-96bc-2ee3714853b7 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9f5928a0-dced-4366-a461-db93bcf50f8f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:00147907-be7e-4f03-af96-63d00e60faba phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8e20c3c6-bb02-4641-b38f-91f9832cbbd7 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3d4e8863-f4c9-4e21-aa10-5af7bd08f56f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f2f86091-9176-4fcf-b68b-0c14e4e1ca87 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0bed4d30-de62-40b6-a759-7a7a9544de96 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aefc4d29-e0d2-4dd0-a1cb-3a28b791904b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b7f72c9-6c8b-4ea7-97d2-ba9b921e5fa0 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:17520a56-1591-429d-bf72-5be6b26a837f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:367b9a10-8a40-49a3-93b4-763c8e3cf52d phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dbdb2a32-7302-4559-a5dc-a6871267bc04 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:40f45f08-2ef8-4f7d-b998-4072f96086fe phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:00ac2fe7-59c0-40d5-833b-95295e8a0c9c phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6d08fa6d-d914-49b7-b78c-0ce932333a56 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7fb5b6dd-83cf-41c8-8dba-13301994cbed phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59ff5eed-60b0-4844-98c1-cd0299ffbe32 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:974f218f-2575-4864-8638-e6826f841ccd phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f843ba5a-26fc-4c10-9e1d-b10c2c629c0f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:988e2297-a3f4-4903-8a2e-808bdfd712f7 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72708cf8-9230-41c2-8f0b-5d0d3871b8d0 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b3ed7a2d-6a0e-4fb5-8cc8-e8b7346fd40e phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c463774e-feb7-441a-b0cf-300b58de0a16 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dffb330c-1f18-4f82-a761-4924a3e117d5 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:122795ac-09ad-482c-9dac-c8c6d8ba4d99 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ef8397db-59ad-478e-9278-826917c98a72 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d213c900-e424-4b6e-956f-45ffeaf4c513 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2790354d-bac6-4d55-a8e3-3a73c330481b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3a086be6-98cb-43c2-9913-9fa9e1cc02f0 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7eefc87d-633f-49d4-b62f-3787c0135a59 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:515cd59a-8924-4dc2-a782-838b2dde0723 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ecf70913-786b-498c-85b9-3d26debd3d6a phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0460681c-0549-4f58-9e0a-e379003a9967 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5d544e55-a8bf-42b5-ad52-c0c4daaa2511 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fcff3f1c-3484-4b5f-b75d-6d797323eb61 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4500da6a-ecae-4e50-b0cb-5c503d17415f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:171ad2ff-b4af-4ff5-9e5e-14e84610edb9 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:684bbd5e-3c98-4cc5-9b49-36fa255a46c0 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9c76e8a4-d8c6-4799-8b8b-583349ad6e3b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:230afe52-db74-43d2-92c3-bcd0d8b0f600 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:32b74eb5-412f-48cf-8799-4a829c75d037 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:94823310-2118-492b-9f30-d46a2720936c phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf3da2d5-5eb9-4589-86b9-34b851a131fa phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f59d5b63-9d45-48ae-8041-8b9bec9b315d phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c8954086-99ef-4f0d-97b9-bca51b21fd23 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5d89b607-dde2-4d94-b9db-4ff96a0c8bdd phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d15cfe79-12f3-4682-ad81-e9bf79905e6b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:73a0a0f4-404e-4371-9aff-f2909b8cd8ca phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0c71487b-a584-4746-a442-005bf1f01c64 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a1a13545-a777-4e32-99fc-b2b10ae81e36 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:52637162-0fef-45d8-81c7-6656d2899a5a phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f42c9179-555d-4412-aefe-cfbbf87e5c1b phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:911e2c53-68fb-477f-86da-0919945dae1a phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d5b38cde-11ef-45a8-ad1d-001cf99becce phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:077f4be7-f830-489a-9ece-eb6e0b0fa3f2 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:47090ee7-5f2d-4347-a729-5eda8b998b8f phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6fefdc92-68ba-4313-800e-7fbc3ba8636c phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f605ef9f-091e-44d5-8f72-b0edb0242246 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:67e4f6c6-6a98-4c55-97fd-d0081cc9e033 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9a203888-8845-4ed7-83cf-099f8fe48897 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f5a6cfab-3c2a-4a11-9468-5b7e467e4dbd phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fbe0dbd0-5a0e-482d-bfcb-2fdbe66a55b4 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ecdc9d91-9b09-4d38-8899-dd7ed9bd3049 phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:088839bb-f1f2-4455-9c5f-b2133ed8a50a phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:bbab63c0-8af5-4ef9-aa9e-67197a6e0455 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:46efd1c3-c556-405e-bfcc-442a924b1cca phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:03797a37-8548-4b53-abc0-9f3d7eb49a25 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:73150103-8d10-4f63-9968-55bac8a69620 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:57cf2285-d9fd-4a40-8968-17bdd1239bb7 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b28354b3-06c1-43cc-b9e1-abaee05b184f phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:acfb03f7-5155-4021-a977-ed7fa23c57ab phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1cc23e4d-1882-4d4e-b766-b7caba36f9ac phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:07a8a48b-5d7e-4111-bb62-0e3cb010963b phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:94301884-786d-4a58-bf24-66dfb56e566a phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1d2cdcd6-856a-489f-82e9-0640706948e6 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1feca2b9-b957-42c7-a797-7a1d99009b05 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4a166db5-d94a-4f3a-93a2-4a54db0605ff phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f8ef534a-ffe5-404b-8ba3-069e651145d7 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f4c9a3fc-cd48-4d52-908f-636d1b79b0dc phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e439e442-3829-4d8c-8577-137c85095187 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7ec67858-b232-4866-9b32-27cc0ee3dc7c phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:139d8779-531d-422d-924a-84414c6f7bb8 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:40ef9dd5-7ffe-4d7c-b4d0-e735d7c1fe23 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:97a62550-6217-4eef-9631-a22ebeec6037 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fc98c05e-ff80-4b1b-815b-d271c026f7ce phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:44a1a36e-c1eb-4f0b-b833-1d0f4351f26e phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d5f3b0cc-31a7-4687-8f5c-c082c38f9943 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:0eb15f3e-ba79-47ce-8c12-26153c7ca512 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b591aed3-2028-4795-850d-5d5006e9ba45 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:38c73636-463f-40f9-a72d-025154c5df11 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:889e6e76-6107-426f-ad90-a098ed718c17 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2f03abce-b20b-4af5-9c00-746f45b22cb8 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:954cf06f-ba0e-4c47-8b77-0b2edeb3b963 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3fb166f3-c775-4115-8935-a86678c18da6 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1400e343-1bc8-4372-bd25-3687470a3fc6 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36d581b6-b1fa-43df-933d-e8d0faa676b9 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0991cd97-f953-4216-a965-b6118cf550eb phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6bf559e1-d4b4-4f39-a2f4-d06b7e1b60f6 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:874c9741-22ad-4d42-b49e-5fdf3138fc91 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:699b884f-8c38-4387-b5f6-88b295a484ad phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d6205bcb-7af8-4495-8f64-b2b85bc7d4e3 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4a1782aa-3c16-48dd-a06a-a83c64365255 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:809aeeeb-e735-48c1-b901-c66826b8af35 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22fc22a5-5eea-422b-8aa6-0de57191a920 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e27ecc1b-7122-4d02-ba43-396a0bddec70 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a1884d2d-e551-4746-981a-cb541a2b292c phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:807a4815-431e-4027-8e0c-2b6dff47ccd6 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0da93859-49a7-4546-9ba6-fe1afea78b36 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c5ca36b-a9ee-415a-8b98-da1fc8643c16 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:935d06e8-429d-4124-8cfe-84cf4683c094 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b6797c4e-70b3-4c97-9f94-ea02cee24d92 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fc877c1c-2b2a-4772-8afb-d55860b9d394 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:45ef893e-0446-4096-b2a2-b65fa0bed6a2 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cb0c5fb3-38be-4342-b859-5bed8a468cf4 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:46f3a0c1-39bf-443e-b51a-4e723bf918aa phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:908dc23a-e10b-495a-afce-6aaa91dd5276 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:18c5b1a9-61cd-4f7d-bb56-24a0c36b8d23 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:97daa8a2-d9a1-4303-971e-c5657eea44ed phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:edefc8f8-4df3-4ba0-8d9c-f8055249cf85 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:18bcae42-8698-4e21-8bee-5e8c56c1f8ff phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8156ce10-c1f6-4b48-905a-0eb817ca73cd phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7325c688-7655-40c5-8f46-735194f587a1 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a004f696-da27-4e66-9a5c-7e513e323df2 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e763a531-8964-40ef-8cfb-7b1b99d0c272 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:63051f1b-9979-4e10-ac78-db432d7b0abb phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:74bc6d4d-767a-4a98-ab10-4cd74c53dec1 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ac03e4f-d6bb-4494-9ef4-8140b89c5b1e phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:897d544c-27c0-4965-aea9-fc85c46355a7 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cdf32d81-4f75-42d4-9296-d327e0da8447 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f67d4dc-573d-4c66-aa20-447529760538 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a9e8defe-f1c8-4a93-8915-0957fac2153e phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f4b6c341-3932-45c7-a7c0-b8497c597ab5 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b340b324-44be-4f3f-8f55-39e518dc3caf phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf59e7a7-411e-491a-9565-09142fb6d6b9 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:79c18507-4693-4686-bab9-e250a6e44e4e phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:977a7afa-945b-4ffe-bc3b-8cef01bb1eea phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ff802984-6f68-46a9-99d7-47280e03512e phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:941f44ab-e770-4875-a9b8-b6cf77a97787 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f6667428-9428-4aed-83a0-586f09905b77 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d8859076-4d10-4434-abb7-d85456520174 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b07d7a4-6eb1-414d-81cb-fdcdb3068076 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:690f81c8-43d5-475d-a6b6-8213c91a80ff phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1251f963-1b26-4105-bbf1-c867cfe04453 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c418a573-3b29-49bf-9991-535af8cdb08f phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9a4bf867-6043-4d8f-bde2-d3102aa85c2d phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a921c733-19ce-4c33-8fba-d109b5698714 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7f42a5e1-19f5-456e-88fc-9d2593acbcd1 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f22909d-0482-4cc3-a68d-2f656013b1cd phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9ea9c25d-e105-4e73-9fa0-2e6ddb857cd3 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8b159e02-b320-49f3-ab4b-bf117f567780 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8da91836-4d7e-42ce-bb58-e54deeebad90 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f5e816fa-ce52-4917-a673-3664661d3dd7 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ccf58865-f099-48b8-916f-405f85af0b2f phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b0f2b2c-b080-4d19-ab8f-5c42eb4c3aea phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6cecced2-413b-42b4-bbea-e38ae2a30b2a phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ef3a705-bbf6-4826-8a90-da6b29344e36 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a342cdcb-29ea-4ebc-a2f8-7f25136ca8ab phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:40ec5757-97d0-4579-8942-6e34bf7d934b phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5f813289-f9ec-451c-b5df-bf6e4bdc876b phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f307b1b8-3397-4dd1-ba58-05eb1e637e78 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f20ac8c-983d-45c7-8579-af21b2a57823 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2bf2ee7e-2b05-43e7-b9fa-6ce1179fa3be phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:784d8def-ab0b-49be-ad1c-e11308e73c1e phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7fd17d37-d647-4e43-bda4-fbb6227fcb7d phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c709fe7c-8195-4a77-9622-a9e75c95c4e8 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:765d0c94-4a5d-4aad-b13c-600b138170c1 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ed39da84-71c4-4642-9ac3-b0a53a679cba phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f018a40e-f018-4016-9b02-b562bad33353 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:be0f32ed-dfd3-4a05-aae2-aa892fb7485f phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e0ecda7c-3712-4ff5-9e75-c5aad0a0f7ec phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:96cf38b4-3564-4617-8fb9-b47936a912c7 phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:bbbb3a5d-fd88-41f2-a36f-c43a62653e40 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e6a03ae0-1cc7-49e6-8c06-40dc171df39b phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:eef43847-4743-4c40-8dc1-df2c8c53d3b9 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fd585807-8c51-4ae8-80cc-6e4d84eaab7c phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4fb13734-0b98-45fd-9f55-b27fe3fe33cb phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a109cf9c-af41-4022-9216-d81c24aba2fb phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:88b9e0f8-2165-4e58-8ca7-0b460985f52b phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b41016a3-bd87-49d3-846b-d35c172bacdd phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5c3ac321-3070-4733-8e76-467a945f35c5 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f84a8264-cc4c-4645-b1e5-892fb18a7b33 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8cc6511a-6dcf-4c9d-9fe4-d83e36abe68e phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d0a24c4d-0b29-4bfc-b1f1-42526882ef04 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:9832abc2-5fa6-4a5d-b159-dae1d19ce18c phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:9dfeb25c-525f-4192-96dd-4bfb039b0067 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fe909ae7-add4-4e88-9e6c-c24c0b40c1e6 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c045655d-4ed7-4393-acda-c4a1fb035c5f phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:223353a5-130a-4a3c-9301-496adf9964ad phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:bba97de1-c5b5-4ace-831f-3a239d09661e phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:50c4c566-199a-4a8c-be0d-186dfdf5dac9 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f6aeeb03-0a56-4894-a6c6-5d8108d4f1a7 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:17b590d3-5895-4ed4-ac08-dfa4a24ac5cd phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3e67c4d1-65ac-4220-b861-2cdec3119b01 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:838f4724-beab-44b9-ac75-2740b87a3453 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c407bed0-20cd-46d7-a9a8-650cb05bf0c5 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c29e785a-246b-430b-b444-782a054e5111 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1fec80f8-c3ba-452a-90b1-0afc4a2611c8 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d751e654-30ae-4b7e-97f6-163b095d7bd7 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:653b7b11-2f07-4c96-a1c0-fc25521827a1 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c285f902-3a9d-4ed9-92ee-4ef5a844e535 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcb7b773-760e-4505-abcd-5d68e53f5814 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8d2841d2-4aa6-4e49-8294-e26300520667 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99d8003b-4d4f-428a-be45-6f551d2edb0a phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8eaf6547-56d2-4647-a419-ddc418d07bb8 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:944918b7-45b6-4fcc-916f-39be72987e41 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b9cdfac-20e7-431d-a057-9491405c79e7 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3f1fc815-74ae-4449-b9fb-3ba9cd8f7f8c phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8bfcd9be-8d27-45c1-b83b-0bd186c2c444 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a3c4c868-8095-456a-a75b-58b9fcf926e8 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4f353d60-1245-4885-b2c4-5cb9ff47ab5d phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:212ccf55-a84b-4bf6-bb77-37b7588f59d3 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eaf111f2-a5f8-45d7-b071-0cdadef385eb phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab782338-7c48-479f-8594-97b06728a270 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9211dea-d56a-48a6-905e-5e9285c74379 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f012b3e7-d853-4ca9-bdfa-e0774f8c1e2d phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:53f3a966-6965-4431-9c25-20f4fc69c898 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4ce132c1-adac-4035-8edc-2b268e7b9abe phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ba9b68e7-5136-43aa-a03d-8d83fe08f900 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:efcebf11-b94c-4150-8847-b4f3b9723898 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a5ad122b-43ec-4ea2-b155-645d668696cd phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7de4a50f-b1c6-4113-84f3-2cf4f9bdd415 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:15a039a2-d0b9-4ed3-81f0-f71ce8be2425 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8440cede-21fd-434a-ba90-a5ee188b3b47 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5e8d444e-5595-4d75-86b1-cefc4e1c7599 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c38b5375-310e-4433-b5c2-791258231dc5 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:486b5bef-8a8b-46a1-8bdd-12ade80603c7 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36b28a69-526f-41e5-a3a0-ae2d1ac84d81 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c931a52-1fc1-4d70-bea0-d98bab0953ad phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d4082dd2-8140-4439-8298-5b6427363260 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:12db9559-9b1c-494d-b648-c11e5b142517 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1dfb9d5e-2cd7-4643-b45f-e42efb0b9e9e phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fa509cdc-8884-4a16-8198-7a60161a2b5d phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:29b845f3-3933-4bdf-bdac-f1b4456c7693 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:41cb8012-f6f5-4f80-8727-30b2c2d955d5 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e81ab32a-2efd-4e86-a982-426a66c9e6ca phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9fc3c41-005e-4b50-b047-87bdd3adf235 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e7c1f161-5ff4-4614-b7f8-3f8011c3cef7 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:92f12f5b-1851-4f00-b9c6-9517dd031601 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf5d1116-d6e9-43fe-b734-c6553214206b phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fb096419-6462-4d14-8370-536bc17e860c phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d37387bc-0345-492d-983a-715e40559825 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4dd99333-65ea-4c3a-b971-342b44a5ca05 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ba07b36c-f021-4c8d-bb53-0ab975ff2bae phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1a2b74f6-623b-469b-bc91-9906220a7f7d phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e4bf7dc2-8be6-45d5-984f-58534309b7d0 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcb62fc3-34c6-4d21-873c-90cb9741febc phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:87c26e16-3846-4a26-9f03-4c4005510a80 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cc6dc642-8c38-42d9-b6e0-815399df030f phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:00048e8b-3443-4fa5-aab4-c8e4e428c2d4 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9a111089-493a-4c4d-9ad2-739a99d1021d phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2ca19474-6cb8-4582-abd5-0476fb731db5 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fa4ee5ee-95fe-4b69-ac62-cfaba9ce85bf phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f04f1de5-1259-468a-b9fc-5c0955f128c1 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:efbc70c9-cf69-44df-9c6d-b08bca9a3a4b phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6b2fda84-f4f9-4422-a8b7-9fe6d75248d8 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:18cf3533-bb5e-44fd-8ebb-11c65461aa51 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4840f102-5211-45f0-97ac-7b93515a6f31 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a8d00fff-023d-4f69-88b7-5b70d4447154 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a52dde1-7361-42d9-9d60-b62d5958d4e9 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b57bd6b-2897-44e2-886f-b2b365b490f9 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4985afbc-8be3-4b69-857b-00f610cd60f9 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d8069402-deb5-4c3d-93d5-b8ba1b283e85 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d9ef580c-95c0-4c7e-a749-635490e87ade phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cd64e0c2-ac3f-4e3f-aed1-03a9a0606210 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4f138b48-28c7-4157-ab45-b435450d1120 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c2ab9e4-61c7-4898-8b77-42c70d797c84 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:693fbd17-9c7f-4e83-8c79-bf10bced711a phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e83ef185-d3fa-4dfa-bf77-392790c81b87 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:44a75907-119f-47fa-81bb-0fea7586bff7 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aec06f85-bc62-47d4-8c43-eb6e46a39185 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28b2d654-a7c0-4ab4-8a87-0d1e3ee16a6f phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c7bdc77-1e25-4dce-ade1-0fb14beacdc0 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8e242bd4-919f-438a-9826-4b1a352ec8b2 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1aaa4f93-634b-403b-9878-302e8ed32f13 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:effd6832-6fc8-44d3-9f54-df310ea02337 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7157e9a8-bff5-452b-81e4-5d7fdbd069c4 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cb1cc4e2-7a4d-4387-9fb9-0666f85d1d87 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:9f09ac3f-f347-4e15-a821-285e2b0f5192 phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:3bcc222f-97b7-474b-ac26-5f2bc4006c67 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6341eb44-cbc5-4fe6-95c5-d998f8b53522 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:316e704f-2ad8-4e54-99a3-609392d98c7e phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:38b9bc04-c200-4d15-93af-84960ec8a259 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:554d4d85-1909-444d-abcd-4529847e2aee phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:4e5acca9-7fde-4bed-848e-e1c4dd1fda26 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:961a9d84-e29b-4fc6-81c7-5d0df6912e22 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ae8752d9-9359-4776-aa85-356cec9e5f4e phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5f7d08d8-560b-42c6-b731-30bfc9150b53 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:0d9bb791-9990-4867-a562-0670895384e1 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:29b8ef0b-9a22-4182-a906-6992af81762c phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:01a1f2a9-e87f-4e25-9ac2-9f35425ffcc5 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f5c6c3b8-08cc-49fc-81f9-2d176154318f phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:37fcdcc1-c213-4045-b21b-060c27c93ec6 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a96e92be-5f61-4484-ac34-071f1ca3429b phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d1a5c822-e6be-49bf-a3a0-2b8700eae0c1 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cd41e82c-4f28-4b00-ae23-dc15f90368ce phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5688e2e6-e8a7-4e73-9b10-4158d85d2b74 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:940fac61-3ae8-4ab7-abef-532d18b09c77 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3eba69ef-0082-4e72-bbd7-902852a33138 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5c88f98a-cb9d-46ba-8fdb-bcb9d53f7446 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1453b27b-ae45-40a7-961d-2b43cfd5b9c7 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9e4682e7-1c54-4d12-8e05-7db549499a88 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:61c42b67-429e-4e5c-8b67-9d191ba46bbe phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:03c566ee-0213-4ab5-9268-55d8540443dd phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fc96dc9a-2a6e-4d3a-b5f0-1167b2c3098e phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ed195687-124d-4570-a3cc-47b637e6d873 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:07e54583-09cb-44ad-9f7e-caf4d832f22b phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3d51e95e-dc76-4f37-9002-4892fa2111dc phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ed710853-567b-4e9e-9aef-74c414a38fb1 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1a81ee09-b053-40d0-9ace-3e12d878e4fe phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a7eb8a23-4149-404a-b48b-e759c24865c7 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5402b87d-cc87-4451-bddd-6b07dbcc993b phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e1288d3c-06c0-47c5-a0bf-775f6d1aedf0 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8c1ec42f-dc58-4166-b1e3-fe5a134f77d5 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:66a608df-e73d-4cfe-a499-a4221ea0043a phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0693796b-23d8-4310-b7fd-a106e1d15d9f phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:79eac20c-7bcd-4029-8229-c11290441554 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2f048540-71e7-44cb-96a2-805992580fa7 phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1deae191-bc24-490c-b655-83806159110c phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:abea37db-7aed-478d-be45-480a48ac509a phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:c3d8dabf-58be-49e0-b251-3acaf50e282e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:987b0ef8-2d17-485a-b16d-bcf6ca1b58e1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4987bacd-d588-41c8-b97e-8b01f83becbd phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bad8c83e-7c28-4cb8-9cbb-bb8e59e582b1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3d8c845b-2767-4d7d-8e8f-27dad386b47b phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4a350753-b9b1-4f36-a1f9-fb19ef096300 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f2f9e743-4569-4eee-babe-966bbce0f6e6 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0986584a-91ff-490e-833c-333e9bdb8332 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0e075644-3440-4b9e-8542-b65e208ae941 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1abf29f9-c8e3-41d0-b2e1-f9868c45a215 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:12b2584d-565b-427c-8494-b3b15ff7bdcd phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3c75dcfb-baf4-4288-a2f5-c5858f94a3bf phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8ab496ba-6349-43f7-8777-289f07b7d4f1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4fa46f7b-9d24-4143-b2ad-4dc8f5dac9cb phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:17989225-e783-427b-bca1-289aaf18e673 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b66c17e3-df5e-4ed3-8718-271758bfa01a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:db84a2b9-876d-4cf3-8356-75e455caada3 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:576866e2-0b5a-4ab2-8587-99ad8e0b117f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:91ba888b-d1c5-4c0e-9739-b10995220d4e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4496d354-7084-4979-a772-dbce91984288 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:42d019a0-146a-45e4-b735-c8f12e7bb42e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ba143c11-d09c-432c-b534-7c47989670f3 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7e60ce35-189d-4c67-97b9-b5c335c2181b phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0352a1f5-1e80-4c31-9b01-1e2cd3cf775b phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:455a9039-926b-465c-a51e-d2322c24fe71 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c5a124d9-1f67-466f-be0e-8d8b83a3b8cb phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:732e78be-ecb2-44a3-81ba-79162662675a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:05e86c67-c27d-452d-8386-dd085928851d phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cbe997c0-6897-4b53-aebe-83259dac381e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:464da5f5-c993-4788-837f-ff396377fd11 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0308821a-6fa1-4e87-b726-9fb337b414a1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1ef132ef-ede0-4c41-90bd-0d5fc656716e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2cb65704-1dc9-4b71-9ed9-3f48b3606371 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:76cb7839-4bb3-45c0-ac4d-6e92f2feb73a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:14a35e97-a64f-4340-be3d-adef3c44f1c4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:488e1378-575f-4b3e-ad0b-f9f9aeedfd32 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0385b551-8056-41f4-aaac-555e597702e4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e17316d6-20b4-4776-ad88-fae5cf0ffdc5 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c7e865bc-131c-4914-9569-0cac9e3b449d phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ffc4fbd5-c151-4ced-99c8-fcac0c2f2d2e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f103e2e3-5b99-43dd-a5c5-9a999d55c4bc phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b6b8479b-09b6-49f6-86b2-483297670476 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:901b4587-ca53-4572-a048-be5a25df9fc3 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e8d0aa47-8e0a-49cb-b3a8-6447e256031e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d3c0aa3b-ae69-4590-acef-4f63c4dfbf8c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:84f60de3-eab6-4cec-8abd-4d4ecbb1ce2c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bc5988bd-cfac-4dd1-88d5-60dbb29a7299 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1b0dae74-2d70-4ce3-90cd-25754a8d17da phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dd10bc58-27c3-434a-9a5b-399ed5e4b62b phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:69c90c95-61a9-4fc6-a804-4f02c426ed63 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ab58f256-d0b0-49da-9350-3bc59aeaf876 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d2b9b4e4-61b4-42ec-8ead-24ba6481fff4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:10db2779-c358-4f0c-aeaf-6bb5387911d1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:01c953f7-1ca0-4d07-9093-297817dfdb48 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9097483d-089b-446b-9f38-e445b3ae5ff1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:291d1904-e9b0-4c26-a0ca-d0ab7ecd9d39 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3f2b9894-f7a1-47f3-baa2-0b88a9955945 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7382596d-4a4f-4c15-8254-1e25880bfb07 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6cb4c8dd-8970-4d30-a374-8f9c3853752c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b777cf74-6e0f-4761-a57e-17bd5ebf0566 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dc39ce09-211d-4434-a058-ba2b108098fe phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f11f9980-6a1e-4953-817e-bd289170a00b phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:baabdcf6-233a-436c-b434-e7878ef68bed phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0739dc6d-c2b8-4da2-ac0d-28bd1d771894 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d5c4e942-a4b7-4746-a274-2e468b2a312c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fef12c2d-cea2-4896-80b8-0f6cc2fd54bb phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:29bfc742-12d4-40bd-ad9f-fdfdde69fde5 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:55a4c498-6880-4060-9be2-04746a6c84b0 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ac29ecc2-01c8-4c04-ab57-375e5ac66e3b phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9852f8af-8c86-4e3f-846e-265258fffc82 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c9302406-dbd8-435c-892b-5ba2ebc74411 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8e263990-8f42-4a67-9f3c-4d33643934cb phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:4e496851-5fde-419b-9369-3513268b4015 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:3f4a2565-03a2-48cd-bcf0-c10f573486df phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:65489dc9-15a6-4d02-b189-43b38eebcb80 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:989bae6e-8671-4c33-9c84-b893bb587ba3 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:895a8506-60c4-41ce-91cb-86ea61505309 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:74ff3cca-877f-4121-9f6a-117d5ac2ff43 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:06bc7e5d-eef5-489a-bb11-d4b543835e17 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1606bd01-e26f-4f19-ba7e-c5d27c05c8d6 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ea8f1510-8430-4155-871c-fed28a33c78f phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c3216354-04dd-4cf5-a989-6397cc7cc0d2 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6f71c000-26f4-4aaf-92d8-5ef56a325eab phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8bae5d51-f73d-4e49-a5dc-0a16abbe47e4 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f9156034-d50c-4c40-b181-4a80d25270fc phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:80ceb8d8-f09e-40ee-88ea-d39a0eb3a380 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:78f37b1d-06eb-4b13-ba79-5e7837554b40 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:80a1725e-938f-424a-80cc-2d30666c4042 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8e09c8d4-7924-474c-9a41-5cdc6fa0c8ca phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bec4de6a-0202-4c30-bb04-0250244c828a phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:db1cbb34-6a64-44d3-b08b-9a4eabcd3ef0 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8f8f647d-4cc4-4496-abc3-5a49dfa64d11 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f397b23c-94b6-4f04-bbe0-3e9a949ab4ca phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7309e61c-6940-4ae3-85c4-bf01a530751e phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2a015423-f389-481d-832d-fe4a59c91ef8 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a1f8be30-de23-4008-afd4-1ef9a5dc714c phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cf93d2bf-5fcc-40d4-830d-3d816ff40ebd phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:57e69b0e-6c35-4b76-8ac0-5743fb93ee3b phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:56c20e70-4ef9-4171-9019-dbf40ef7d642 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:14244e2d-d164-4a97-87c7-474bcdd4af76 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:74b2074e-b48c-4068-a578-5bd31a625a95 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bbc1fd8c-c753-462a-82e0-8eb180e18095 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e3e84970-3fe5-4775-a749-4fc0b2c7dcf1 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e43cc091-41ab-43e3-aa69-e6a052c7d6eb phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a00e8e01-8bde-46df-8c01-cc850f4b1132 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0ff772a5-69c8-46d7-bbed-ec84d0caf639 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d7935810-02b0-424c-94b8-71ec5d48cd22 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a8bae098-6b49-4ea1-a32e-8f3d26778dd5 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:64e0ddb5-25e2-4223-aee4-8cb64f615621 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b349ec04-6628-4ee1-a852-d29b9ec6b533 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:64e027e7-9adf-4bb0-b492-d228def5e1b1 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e847c1f0-c6c9-47ff-a2c0-9be4160a5a28 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e8d9242a-5952-4311-88b5-2f76aaf7d60f phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a41f6372-93cb-4ebb-b602-23673f510cb2 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:25075e4a-0bff-40ed-b473-d07dd66a6105 phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:9ed35d03-2a08-4adf-8915-86e127f060e5 phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:21bed6cb-ad03-4351-83f8-9b120cda6979 phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:67272e82-f60f-48f0-b72e-5feadc56d02b phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f495ff59-8c4c-4f95-833e-8e3478b216d0 phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bb94c199-7149-45aa-963f-97544ad7215a phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:29545808-73a9-4f61-9b63-27793bd100fa phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:610fed95-0b1c-4a5f-9cac-b7432089935f phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:90f13150-5689-41b6-b7cf-28d0db59acbc phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f31093e4-b671-4f13-b5ea-071d94247760 phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f2e4ca6a-dd83-4f73-9a32-50b9a473d6e7 phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:129a41c7-77f0-46d6-95dd-83a0b7dbe461 phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:7ab25651-5e61-41ac-a28f-1cdd4f7ae06b phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:4f89a2f4-07f3-42e3-b90b-4b5a6cd46571 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:deadb971-094e-479b-bc7c-195b7584588f phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:20092839-5b99-427b-920d-9c2fb85fa9f3 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:848b2e2e-a161-4f76-b202-6f1ae726a5cf phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:47994e76-6c0e-4312-b746-927c5390ed18 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:14124234-4549-4637-8f46-4c8a2f17bc23 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c4cb76e4-e628-4217-9faa-3e1dc9b03ec8 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:49ecfe70-15e4-422c-aff5-a720b4955f5d phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:647ca25a-1e7e-4c30-b10b-3dce0bcd120d phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:325c8a24-379d-41a6-b6a8-bb5ca39c0acc phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:64f2d557-51bf-4dd4-b769-2d04fcbfb5bb phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:760a8366-ce1d-4f94-a4ca-5cae08226df7 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ac78eda2-5d74-4a5e-b283-ada16edd005b phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ec2ae6df-3548-4597-b659-4b8f348015f5 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c0cf0a3a-e60d-4954-9429-cac5b98a3746 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:14624d45-228d-4de1-a744-b313753394e8 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:56509040-7fb8-46da-a266-6a176904b6e6 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1e882d2c-1847-4205-9d5f-13786a6936cc phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d8b3caf0-9c9e-4c7c-b575-f75fcb4b3f89 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e8109cb5-9622-4165-88d0-ad4c6cac7ceb phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:81c6e18e-83da-4fe0-a62c-05fcc7adf9c9 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7a9ae3c7-9c58-498b-a4ae-0c6f306907a0 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:08a2404b-f603-48b1-90e8-efafa53cf8a0 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c7d7f11c-b8dc-44b9-a0c6-2331800874ae phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aae64337-6423-4e8d-adac-a67472153cfd phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:63cd3f18-4a1a-46ad-a8e7-d03b5b0d6955 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f07344c3-55e9-4e53-8f62-12c70033b582 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:07c504db-f3ce-424d-a49f-0a19c70b34fe phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9ea485c0-09ac-47e1-b44a-37487855854d phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:692aef73-f5ee-42ab-8177-50ac736d1878 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6d5322a1-d329-476f-b86d-a9769e83f4b1 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b8b4892f-b70a-41b8-9f05-30568e89fc0c phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:926e9f9b-850b-4418-92e4-e85eee54eb94 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:34963a66-8a34-442e-8273-204997b1e8b9 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:303d1965-4249-48a3-9d36-8d21eeb0c131 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1277003b-36f7-4cb4-902d-e0786cd97b35 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:10181720-9915-4d1b-9a32-90c2c80b3e34 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:42c7adef-6dfa-4bb0-828a-eaec68eb3635 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:d0b24800-edbd-41ce-be71-cb6d117e7736 phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:e9691dc1-b4ca-483e-86f1-8cf0b3716fb6 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:766f5e3d-fa0a-40fc-ba1a-065b2feb1043 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8141f48d-c3f1-4b41-ad94-483413dca5d8 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:503372e5-2166-4d46-83e3-94fc15296150 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7c57d155-cf70-47a1-95c7-54ebd231de60 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5dc43860-2a6a-438d-ba88-b0e8468471c0 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:0c7e9159-3b70-45b3-b353-9f605a1654df phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:635adff5-a1f1-4310-a818-3c0340751940 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ffb97b07-c8f2-4653-850c-51fb2841c8d6 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:3992be86-7ddd-4c0f-93ea-deb2003e2f43 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:254a4bfa-8ea5-4b62-a338-0374d1a1c29e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:09a6ddf7-d967-40e1-af4b-ae3d22cce026 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ff3944bd-f6b2-45d9-87c8-6e1b9de327ff phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e3b5684a-1e07-4cd9-868b-950ccde2ea65 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f1d3b840-66ef-48a5-a708-2cf0b0beee40 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:88effec3-7337-4ea6-a3da-6428da6c3701 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c5c8ab63-f082-4623-9f67-8a3c53b56843 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f93c420f-7c87-4e64-ba92-a0289ce2c183 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:34c4696e-243c-410e-840b-1650a63321d5 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4f6213e1-1906-4ce6-b63c-d32d0069da39 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:501e9cc4-1f63-4543-a862-63f8cd05cdd6 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dc3e01c2-4a1a-460d-b731-e50564a22292 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f25bbed-4ef7-450d-8e62-97b8bf9b2598 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:892884f2-309a-4960-abfb-0a11abd05592 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e32699e8-c761-40ec-bb9f-24160cafe76c phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7af6b004-0f52-48a4-ba2f-d63b2232a198 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7868c992-b999-4423-8d97-60d45e609268 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:be9da1a6-9c50-4cb2-8a70-78bc98299ff3 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ed980e6-ca67-44bb-aea3-6e7c0e42eb2b phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b8c14b90-447c-4fa8-aa3a-f8b0f82bf647 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eb73e188-e052-4540-a596-259dd362186a phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aa58b579-abdc-4fd5-b04c-d5416da6594c phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22bfcb49-7f36-434e-b9b7-a1c2836e2b3a phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d7359c6e-1059-4bc2-87ce-6dd537bbed89 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9a88e6d6-b235-4318-a945-b7f511f02ad6 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:26a21a25-fd3b-4357-a5d5-e0f601673eb8 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c495abe2-b602-4cb9-8e15-759662c98056 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bdd75ff5-30c9-4571-b586-2a84a69f8675 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:50fb2a28-d112-420b-8109-bc0368cc03ee phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dfa34450-4496-49af-bbc9-180aec57c9d2 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fd1e3f17-0fa8-4db7-8a97-a60d7af60ba9 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:46621695-4468-472d-a25b-4c9ad6613f8e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e4089c0b-d651-44a3-91bd-6fc937a02dda phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:616ee9d9-db89-43b4-a058-e0f349c9498a phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c91cddbc-9c90-47d5-8f95-ac25400ed0ba phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cbc809ea-1ee3-459e-8aa4-9ca90643cc33 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:132abed6-0aff-4be8-b844-591edb6c4b7e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1a3d26e9-0b2f-4ce4-88d2-b7672978d6e5 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ee137e17-376a-4754-8205-3cc5a02fce0c phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b4a96cbc-3dcc-4ab6-80aa-c5ad5053628c phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b562289-2981-4433-a1f1-41d08f00a817 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c5fd3b55-076c-4bb2-a1e0-d44333346709 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:464748b4-5fa7-4960-9780-c6d3512d2545 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bbf542a6-9a65-459e-bc1d-bc3b22479298 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:55029ea0-36c1-4063-9b4a-52051e169dcc phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a8cf01e8-9fb7-431c-9fbb-8ce098aecee2 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f03029f6-5b2f-4082-8a5e-adfaf93bc789 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:478f866c-ec0d-4372-9a94-eb42ac52a4e4 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4915a3ef-6cdf-46c0-9098-91fe632139fc phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09944c77-1958-4745-ba97-a72c55a650dd phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:902a6701-e458-43e8-be30-f155b640a2db phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:755b9062-d576-4426-96e5-85e25eecf52d phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7f2a6187-07e5-4d91-bc3e-fc7a001fa4e5 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4316c4f3-6d3a-41b9-865b-f9cb17500587 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:30611085-d365-4693-b5c0-7c578ea876fe phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:acdb755c-74b5-4091-b4c6-1d2d6ab24327 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:265b4af9-475c-4b6a-9aa9-e22899c0649d phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:23b5334e-a9ce-45dd-807f-821305877e66 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:591209f9-1f3a-42b7-8ca0-ed36ac9aeb0c phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:382027b3-6c55-4e28-af83-78cba90fbf59 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4ff39e42-6d9b-4446-9a89-c5e06f64d7a3 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5c5aedbf-b034-4a04-9d73-6739c0692a66 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab101695-d928-46e6-826f-ec2dc3339a50 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5d8bc1b5-4870-4c99-854a-899fb5ae27a7 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:19f8a145-17c9-411e-b6d4-61a6c9d36ad9 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91cdb688-44a1-4f05-a769-631b159bd3de phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:387cb623-bdcf-4905-b172-e5ee526326af phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f7e4718-7f13-4491-abeb-b7005571915e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c4981b7e-e3ee-4fc6-9d4b-fbdb480dd66e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c41946f-0627-4061-bf2b-960eeed9012c phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e5ef3176-d892-4bb1-812e-4d6eb3fcb582 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:90651b23-699a-4aad-9386-0f02fb3fb775 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:08091cfe-0408-442d-a1a2-d5d736c90e41 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:14de54df-62ec-4977-a2c5-e7594a899184 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d2291e26-d538-44cc-9694-0e287bda960a phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a4d9f8a-4a46-48ee-9d51-541b0462d424 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:53d080b2-9150-40cc-a9f1-9e4a6d445ca3 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e55a3937-1574-4d0e-8a67-002e5f7e596b phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:503af580-37cd-4cae-ad3b-f272d7257505 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8ddeec54-70a9-44e6-b715-d2022ed7f187 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e5fd8e09-12e5-49fb-aa47-5738d0cbdf37 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9c53934e-e134-4373-b264-d5db5e2069cb phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:301584ca-04b2-4f74-95a0-2ccacc2555ed phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8e58269b-d18f-40ee-8b45-2577227819b6 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25f3d751-5ecd-4e32-9d10-ee58a80c8cd2 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:abac1b14-d55a-4587-96ff-0c34a06aad40 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3dfb426c-b951-4134-925e-597377d34462 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1582897f-951a-4882-b7d2-77fb4cc31a9e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:52e74db7-1315-4870-80a8-c06f4bd618b4 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:86bf79ec-baff-4629-9bc7-4ff82a5eb37e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d9fd0a06-b1e8-4c44-abcc-b732abc1660b phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3e787265-5bae-4663-af3d-b31460c4f940 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a9aad631-3cfa-43b2-8372-4379db1c7d03 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2c37837b-60af-4649-a47f-5c04974f6fc7 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25f33e06-bfe3-4a2d-89df-fb4692bba1fb phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b7da975-1d42-40a8-bb4d-f5513882a62e phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:eed9bed3-5914-4adf-9b22-8b29c5e5d811 phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:c3640c4a-cda0-4d9b-b370-eccfc4afcaff phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b87a4ecc-19f3-47ef-9c88-49595d3eb1fd phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:28f72902-11dd-4777-b772-be524137749d phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:307aa4ad-2368-482c-8082-391d6a07b6e0 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:d5a59dcf-2552-45fa-adc5-7f44ddc4392a phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:9dddee69-1d07-4124-9b9e-78e78ebf02d1 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e2e5108c-bc9e-44fd-8ecd-c1176d506d50 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:92bad97a-37c8-43e1-93a2-d5d1d5dec5cc phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:454e18d6-b944-4367-bc7d-fba3a76441cc phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5ab34668-20b4-4201-9ae9-4776990457f7 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:15ef4aa9-b68a-4013-acda-9897bb6479be phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:01c7ab7c-9255-49eb-8536-0e88e684cf23 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:57d34e99-989e-4e47-88ba-87d0c4185e00 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8bab6805-ad4b-48f2-b06b-16fe123ba5e9 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1854c9f4-583b-41ad-a5ca-0eef27a405f9 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ec1c9042-0061-4bb9-9944-73398f488afc phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:20b6871d-9d61-476a-b437-a0daa2d3718f phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4b5045c3-02fc-4d0f-911a-48a8ffab7a1a phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b6b9df4e-bb4b-4a2b-a0f2-27d3d368b098 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3bb0c927-d55e-4f5d-af43-d65634177cdd phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:89c926b5-a25a-4d98-a695-2f3a939038f4 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:02d42b73-e46c-4d06-ae25-315bc27f01f1 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dc849af3-d8bf-4767-9312-0fb30192caee phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cb232582-f371-49bb-8077-f4b60165b963 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c5164b39-896d-42a4-a767-4413bfa665c9 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:33cef379-8351-4149-9f6b-09c65962176f phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f07dc435-5a63-44a8-9570-263e5592d4af phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8a48331d-6b93-4f84-ae87-90a1b82eb9fe phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6b9ab3f8-0094-4b1e-96ed-3c28b0d348d9 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b4c2e8fd-6c20-4916-8bce-6e67d8ccc54d phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b5cdfb29-ffc1-4086-862f-46ad381318e4 phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:01e6fbe1-75df-4cf5-9ba7-b4217eceacea phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:173ce247-d4be-4877-84bf-a91d3415673c phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:f6498c1d-9be9-4f0d-b5f9-77724046bbbc phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:13b8bf17-a8a4-4170-b7f4-446586a4b7da phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:949eb036-2347-4928-bee1-e9989f433036 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5825a8c3-4bf7-4eb3-b1c3-74a09c799547 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e3275f8d-dff8-485c-94e3-d49e6a0d8d6e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d8d353ad-8621-442d-b147-1539bf680ec0 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f78a3cce-9bb7-4925-bce7-429c12f67723 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d7799f5a-2283-49e3-ada4-6c6292f6a332 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b34195d6-b33e-4c8f-96d4-3cadc79e796c phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:3d7b9aea-c4f8-44b5-913e-d3e16e93945e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:70ec16a6-7ee5-418a-bbab-a1fda7a8264c phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7214a56b-9822-4630-9c11-eca28574026e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b64d5d51-f6dc-4dad-bdd9-80d427b01af0 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8074c7b4-45c0-46db-b038-d967464ab614 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6e5ee1a9-c6d6-4e2d-b253-6ad2c3894cdb phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8a5fcabe-1ac4-4dcc-9bb8-6b82acbbd536 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6711255-2349-4b78-af7c-b7ce8dbeabc6 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f1e999a4-8a94-4495-a096-bf4b85663839 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7355899d-6d9d-4bcc-b57c-19928e8d0986 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1fa14750-b5f7-42e5-8af0-cc6c9202a677 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99fb33e3-dbe4-4b16-a8ac-3dcbbb9d07fc phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f93a28eb-268a-4f64-8e8d-97f15fb11902 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2fb60af7-2a54-4c91-9cde-06e8b178bbf8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dbc4b7bb-78bf-47e1-9935-e4e0f8e0c8a8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:45ea706c-3e3e-4d33-90ff-b173783f18fd phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3ef4ef37-729b-4793-bf73-1fc4c8935c55 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9d403b5-99c2-4e85-bfb6-8ac6acc02441 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42e7a417-393c-439c-b66e-f0cb166792f8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c95de751-9f4e-407d-85ce-f97a547e4836 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3ff76bb3-5fe2-4d05-894e-9f1caa275c51 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:39d72f02-8476-4175-ade1-142b1412e142 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4adaa005-0f70-4f7a-aeb9-a4afb6254a24 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:85e3a950-2beb-4441-8d96-9225f02c9cf1 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:476aa40b-c8b6-4c52-8331-6fde47d687b7 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9ea41da5-ed9a-42e5-aa49-e5fadbf4012b phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:407fe3e9-2c0d-4020-b31e-94c955afcce8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:33bf7e1c-2f5f-47a0-bf2f-80b73e63ffeb phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bc78a005-30ad-4e18-844b-c44aa7dc9714 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fbb0be1e-cc51-479b-bd8c-79fd9c197ce5 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f3a969a-664d-42b7-8c27-01d80fbea8f6 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:35f01bdc-0c7b-4d95-9ada-aae147f9e7a1 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0a69fcbd-5d50-4da2-99ed-64d43b6ada9c phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b8767c9e-e49b-4cec-90f2-7ae1c1a9d4ad phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0abd9225-6855-4162-beba-208d7367d778 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7186ada0-43b2-435a-9aeb-168bc214f7cd phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36bee917-3340-4e76-94db-7f5051653c11 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c81332af-1ad5-42cc-859b-4781f9c74448 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:401c638e-6abb-4c56-9e91-57a6b66ad5ca phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e1ee7352-a186-44b4-9507-5d718467d34b phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4201ab5b-4033-4bd1-b472-947f8cee8998 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6634eab9-4ba3-4ecb-a21f-55719e440840 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ac94807-7971-4337-9f4a-91d110f3529e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f848ae9a-79fa-46bb-941c-82f1ab01ba67 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:da48adc7-1fbc-4bcb-b093-802d908dab96 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:642dce59-71ff-44d9-b65f-aaf78e8c4c99 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:737a638e-7239-4934-8161-de9478b478ca phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a05f8c52-c9cc-4948-bcbf-fe2bee591c0a phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1405eb2b-07e9-4140-8aa8-52897816a220 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eeeac06e-f8b6-491c-a04b-e7a75110a27e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ce0f15fc-8f00-4997-8839-13e0fccde662 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:968699a0-d11f-4dde-9203-40788ee58bca phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:53d177dd-9394-4a13-92c3-79e3f9e322a8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c862a39e-d7c1-4deb-a4cd-7c47a9523fde phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8765e790-d99b-435f-a99c-c76ca11cb773 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5672082f-ebce-4357-a436-053bf6fe80c9 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ee5ffa77-cd1a-44b4-969d-12e93e477c83 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2010f055-8098-45c8-a26f-5fdf5f580a88 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:329cc5b0-ea07-4101-a284-c8a3f461afe8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6598e1a0-df46-4f93-a752-2707a9752c63 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c8cb6b46-6537-4165-a6d6-c48c93c60ffe phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e26d9ede-90d8-4418-a911-b24f132b79e2 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:00242b9f-ff58-4f03-98f1-b34405d07cf2 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:474332ab-f0fd-4062-b112-c68ce8c6adce phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:298bdb66-72eb-4192-b319-163fc05caccf phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:48ef86d7-a4e9-4901-aeb9-4dc9b89d616b phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ddbfc7e6-e8b3-46d3-b3a9-dcca30aa933e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:39274be1-a033-482f-9562-a9a5b8f9408d phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ff581215-ce86-4a5f-bab2-51e4b8cafcd1 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:410edd5d-3aad-457d-a4c8-c27e0b671788 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0092fb65-9359-4fb1-9c8a-f9be2369ccf8 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7f6b0727-a213-4f07-8d0d-3efb0385da80 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3b422d2f-4fa1-42d7-a3f0-229dbc0dcd27 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f21492d8-77c9-4988-9d22-e699428eb8e4 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c6ea1b03-0bfc-4971-8fd2-8109116ba8f5 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3213640c-451c-49c0-8be7-6b6bdb9a3a02 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1821ffd1-021e-41da-be86-0dd5ce19e714 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:356a1e2e-ed56-4b09-8ab3-e5c1797c42af phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d90af4b7-fb1d-4778-a881-8b2ad5cfd80d phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:14fd2710-f335-4f0a-80e5-64cb81616cc7 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c2f63fa0-9ced-45b9-b736-825d17f491af phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:23af587f-dbbf-47c6-992e-fb8aa963f768 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:46592daf-4865-4f8b-80dd-7270bc2d35e1 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2cee9775-d197-491a-9ecf-a6a7658b556a phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1230dd0c-91f1-4fdc-91b2-5cd3a919932e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:81714305-bd5d-445c-b6c0-24f8ffd33eaa phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:07fd40a5-eef5-4795-b201-9291d10e501e phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0d8060f6-3de3-4e09-ac08-10a1aade9a2d phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:924d66cd-fe0b-411d-84a0-78594ffc911d phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4a8a7f23-be4c-4fe7-b052-43ece073d329 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:49ecc669-6197-427c-a0e8-f6d5d2c035d9 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ca271648-2627-4430-9e90-167a28edf44c phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:50a61b68-a43d-4cfa-9258-8cf7bae401dc phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c8265481-74d8-4377-bee8-d298ea76fbb7 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cce50a4e-4531-4135-9846-cc7b431ecd83 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e2b244d6-8f09-4588-bd99-dae32ff6051f phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c7cb5ee9-9700-42f7-bb43-6565f9a0ebfc phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bddfa494-da55-4b6d-9d7a-8bfe510c913c phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:e148b645-656a-415b-82f9-582952d69016 phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:a378c3a1-e1d2-4e0d-8f7e-e6cd912665af phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:f68483c9-5a4a-45cc-9101-5098e5c9bd8c phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:269d44a7-0391-495a-9bad-c5153de04af9 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:4dcddcba-c395-4831-94b0-e6375e3691eb phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:be93ec70-e847-4e4d-bb47-d3b5a619085d phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:41310b81-5452-4e88-ab46-ade8041896d5 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5baa1037-8b40-485b-8031-fdc7db7abe9c phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6dd37f34-0543-46f6-bd59-dcfe214e630f phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6bf493c7-c083-41e1-9966-1d0131b2ee77 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cd0e83ad-34bc-4a8c-8343-d263821f410c phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:46cd60bd-d85f-4f91-896c-ec4e167ca9f3 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6192c322-2f6f-41a7-80f5-fa3c145596fd phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:72bf0251-6c1c-490e-bce7-53e0b478f653 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:718bdcb9-860d-4924-84ce-7694167b15c0 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c31e4476-cb90-4dd0-a3a2-9387e7516cc2 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0122d3bd-5d73-42cb-8ea5-3d905130449c phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:78cd8b8e-7233-464b-a46f-b0b0212c091f phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a83252ae-5011-4de2-81ce-e859e17ae49c phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b117dd0c-707d-4c19-ad88-e911580ac86d phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:93c953c6-5ffd-4167-9395-1dc24589e2dd phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3ed11523-a78c-46f9-b617-da3b52c989c1 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:66fbb61f-6d13-4684-b7d3-5feb8f853ac5 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6d347148-102c-4e71-852d-e3e7f9c56307 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:13d43b2a-8b8e-45b8-b9d0-dafb0615f27b phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0b6fdb1a-4acc-4d5c-b842-82404e029444 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ce9bdf92-5029-4151-bc5e-61041fcf03c9 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:90306acd-0ea5-4bdc-a775-528184d7e3e0 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:de97adb7-c290-4988-87b8-daaab845cc85 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3cd82a21-6331-43ad-a324-953b2b17c70f phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:100fcabb-9076-4f0e-b20c-903c254a62a4 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fd88008a-671d-4ec8-bb1f-9729b88c16d3 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4ddb3129-5040-44a1-a684-2abef24ffdb5 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3187c92e-b713-45b0-812b-ddb5104eee20 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8c62e86c-1d2c-4aad-a8bd-eaa887f9fc35 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:25c5053d-e1d7-4207-bbe7-7e710b6e3831 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1f4e499f-d28b-47be-90d1-d117c79f122d phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:40b052db-fc11-4413-9646-205b6091d518 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fb4515da-f343-4aeb-b766-2651ceca882a phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e622bb77-35f0-426e-b503-df3599dca946 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:43ca05ea-5e02-4d14-a5f6-736d1d4cbd23 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c5ff9c01-208a-4908-97d8-7b2d521de30b phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:7dd471f9-c43f-4413-9001-187fdd99b022 phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:b7aea9a5-4165-4b51-b5fe-4870547de8b6 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2b8653bd-e9d1-4d51-8e8c-2f3a780467ae phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:fed5eac5-da43-4610-ab77-51e36d3d243a phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5c54ce4c-ced8-45f5-8bfd-838e97742200 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5f131cc8-c252-4fa1-a984-b4644671fdb6 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:1c8f2c3e-977f-4f8a-9c05-26e76c8fe761 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6e110bc1-c68c-49ec-9df4-0a42e298776c phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b1926cab-3888-42d3-8fec-4f86b618a956 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a1d22ec1-26cf-40e7-94a5-25108d2232c7 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:07afd72e-9bcb-4752-b149-d8367e55087e phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ca238465-c36f-4b93-bbd5-b5487431f36d phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d049425b-28e8-45d5-a5be-fe9ad12b65ef phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:54323ba0-9def-4776-9317-69d2babe1524 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:83b74a60-c6f2-4aa6-8869-fe5dc945a3d4 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f44a4b63-7094-4f1c-9947-eab1c8b463e2 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5fcf452b-ee3d-4df7-826d-40445c4c610c phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:779a1a2c-cbf7-4e33-9cd1-a26bc271e21a phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6c3ce5bc-e65a-466f-a72a-7ae5ce4089ba phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d64335e3-c778-4b48-9153-470158ce28f7 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3c5dcd1b-6ee5-4b37-8fbb-0d7b73b11b10 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1e60847a-48fa-49b9-aadf-d14df7862e3b phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:db47cec0-5ce2-4d48-9226-f26961f491ee phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2eb00b3d-0dbf-4bd8-a996-8ca4fa40382e phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:df20ccf8-af36-4689-9077-2adb3e4da951 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e9bc995e-4201-404d-b7ab-8366fe53a0cc phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:36b7246a-cbbb-44f1-be46-0f405515a82f phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:637ff3a1-efd7-43b2-98dc-73f115ca0d8c phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7fb540b2-3233-492b-b2f5-f8e281fd7cfd phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:227f0eab-a946-47ea-b18f-1d9380020dba phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dc31d87d-a432-40af-a53f-59dda998ce1c phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ccc9c858-13f7-4f4b-ba98-00d01417bc71 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c7ede426-5e8c-4f4c-9c1c-80243cb5429c phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:61b5ba7c-57b0-43d6-9ac8-6969bce80d09 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ba0bc9de-3bbf-4e35-86ca-6284a08899d3 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:848324bd-f4e7-4f14-b4d4-c3495e17dcde phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e1b6e204-6b49-4a35-8b5f-fb4f20940c83 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0b14cff6-579b-4e66-bf1c-4e60e543c20c phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0b5b6a02-c3be-499f-833b-15c824375d4e phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8f7aed0e-e28f-45b8-8a3d-eeea67b45f2e phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0d1bb379-4c25-450f-a190-52bcb875ecbc phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:4794749d-a1ea-4b7e-8ad0-8367d083dcf0 phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:be06012a-6cdd-41e7-baa6-fd4c1f8d163b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:d16e8fae-bf8c-42b9-823a-190d773391ab phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:705bfab1-b06c-4793-ad52-d99874b13f17 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:377f73f7-8a23-43bc-8286-21d7c9ea2acc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:748807d3-d7e6-4b9f-bca2-05a57eef9c2f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7593b251-e52b-42b2-af1d-1877905ae4e1 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6ed05159-94cd-4e68-97d8-ab50eecfae9a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1ffff685-fb65-4d59-85f2-c3f5c217ef69 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3ad8f55b-6e81-4d25-9804-3e427c48dbc2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a954bd75-353f-41c3-8106-7bd6c38de497 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:44ea0228-ab01-469b-ae27-8b5265762c0d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e0711ef3-4ffc-4fb4-89ad-9ccc59a0ce11 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:494a73ab-4b27-4c6d-9b91-d306df41bd25 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:26f26ee6-5f92-412c-9f31-446ce9a28e3a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:038924da-6e1a-4854-9fa5-64eb76b046ec phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f4c37bd6-ee47-48fe-bed6-b9e9ce46aecc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:aea8fe9e-2a2f-4534-a0eb-8e42e7dc09be phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ff99d7bb-8b90-4fbf-8d39-464c45ec00aa phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ff1d0fc5-2d4e-4f68-873a-0555673833c7 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1cdc5822-6dbf-4333-af6e-9b741524a9b3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:df3b579c-a39f-490d-8e1c-72bdc773f56b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:db7cc8d5-2bee-40cc-acf5-c30f40551568 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7bc40fef-6119-4f19-8cc8-49591f3ffae0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:df6e8cdd-48ee-4dbe-bab8-e99fec306a4b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8c64bc1c-4940-4976-a89d-c721d82d80d3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8fb09ef9-f4fa-47cf-bcbd-7a6a1d5a89a4 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9c6fb01e-565a-4c99-acf2-e24f3aac1b26 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9bbb0cf9-bc4b-4876-a1cc-85a3c0b902b0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:07ca56bc-3869-4b31-913b-0b67082afb48 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0b7a2ce0-e726-4e8c-bec9-d070ed7dd724 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fff6caa8-c758-4468-b8c5-212729025b94 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ae324e42-e5ca-476e-ba52-ec2bed462679 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2e24eb7a-0b6d-4ac7-a4a3-611af5392786 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c0a14b60-faff-4e50-96fa-d38f2aef9927 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:00cc86a4-2ee3-4950-8dc7-596476df75da phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:abdec57a-7604-45ef-ae78-591b537e3955 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:15df15e3-bd8e-414c-9f2e-3dc7ae45ec33 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4a7bd4c8-0bdb-48d9-8a6f-5c9a71879c9e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:177d78a8-9411-4e2f-9464-6ac4c3ba2c62 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a65c22f6-f02b-4b1e-998c-0024e90ee4b8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:74a5dcc4-8bc7-40bf-bbcf-51151d21a627 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3b6fb44a-b467-49d7-8d90-fad1c68f4688 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:05a3fae0-7091-4b7b-a3a9-d5175e5fc2b3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:92c040a5-2aae-45ea-b106-1b0faa4c70f8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:488f3b3c-6762-4245-8f80-57da3d43f234 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ebba4eaf-fad2-45d2-b300-b99ea8c5bc7a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b0aed1d0-4d8e-42d4-a930-d97af443fe45 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:31694b53-1f5d-4dd7-9a48-118fd06e50bb phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1c61e910-958b-4f60-a31e-bc01c36cd2ac phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:74f42a06-ec16-4af6-b146-215891bd3589 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b1a15c94-2d46-48f8-99b7-197dc61a971a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:404d9845-e979-4d16-870b-4db233b3c9c3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:39fcfa80-097a-44cb-a76e-aaaf53cd7a9e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:88692eb1-8b61-4507-bd03-80464d448c55 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b57b7c2a-de24-4988-ae88-5ec0a44adf58 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:458bd920-2aeb-4a45-92ef-ef6abf955a76 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e377cb73-77ee-4395-b12a-0cfb14cb8ea0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:aa5b30c8-24a5-4d31-9f40-b00e1907584c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:457d663c-ce29-4b6e-a088-b2b84aa4b810 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b0cfb0c0-f238-4ab2-832b-97163001a4bc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3d4d1d5a-d61b-49e8-9da7-4fd84222e655 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:79180ee0-37cf-4c17-9245-6a9df9f66452 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0d6a55b0-6907-41ea-929a-3506d6720b0c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:188056d4-502c-4b59-b852-03ca48ae556a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:46e4b60a-0e5e-48df-8ccf-98e831b9088c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7ba4306e-dffb-44b4-8344-939a321c8e55 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a09c2a22-4893-4f8c-9931-5beddd917e8b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3ccee6b6-4780-4276-b74c-423b95d14600 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:901d7e89-6dd9-46d6-9020-3b8d4f2a7f77 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bb3fa858-872e-4d47-bf3e-6297c260329f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:64198636-1403-41c3-b759-d75369721c2e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:746346c5-95ff-4a25-b0df-33e867153c47 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bc353e6e-6f32-4ca8-a3de-4a4f8602afbd phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f4b110a4-ab0f-4074-a018-ccf02dfe0867 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7e35b577-4b15-45be-a4f1-2e1c8183c3aa phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:aaf5d936-9dc9-4a73-a972-4c36ca0049eb phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:25e9a1fa-04b6-46dc-8ea1-5b4a244f0d28 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:20265936-3ca4-4c85-b5bb-5d41e2ad4eff phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:682258b1-2e53-4cb5-95eb-c58dc949105c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a8d5e420-5d88-49e1-bfca-6edd0e9f3d0c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e7cf9d95-c9a3-4102-9252-4a466a1c92c2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cff651d9-cd3f-4e2f-94e0-4d43e045be60 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9decce67-e693-4385-9a12-9d8d0d396fa4 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0eae09b2-89ed-4a58-bc8c-1b8d9e739032 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f3fcc91b-9ddc-4995-9e0a-28e0ac47e28c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:33bfcde0-17e4-4cea-9e6d-b56447cd535f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:73393260-5b7d-4041-ba5b-ab04a629cdae phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:21766e2d-4d22-416d-95f5-3e448dcf49c3 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:aa454496-2602-4683-914a-aa1fcbdf8851 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cca2d083-2510-4a9c-93fb-86403d894727 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:11a83c6b-b6e6-4c1d-a4d1-8d6658ea9aa4 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:c2093717-823c-4d4d-b7e4-787b5d2a605b phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7373a44b-544e-480f-a647-abf2f5ff144a phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8c8343d9-ea5c-4709-beda-ab0c0c2d7cf7 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c94cb4af-918f-491a-83f4-b329a89b177a phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:53432dc0-15ae-4132-a6e9-e6ab53b9fb7c phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:befb48c2-4918-4f44-bc4e-66eb79c88621 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:914a5033-c246-4167-bd3a-a31a72664213 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9bfebe6d-085e-4395-bec6-48f08bb5dda2 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8c1da4d3-54b0-4c30-b6ee-b2611e1a7551 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:18a487af-bf5a-484b-9fce-96f32a636c43 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:be107205-f3e2-4291-adea-8e2d5d64edfd phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cb35b60f-5041-4bc4-bd05-09ed847872c1 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ecde495d-bccb-440d-991f-3e9c5ac95918 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b31ccac8-8ef2-457b-80f9-269849dd51e2 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c939257c-facb-47db-ab22-347c319396a5 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ca2e04f2-86a5-427d-a98c-6931cdb5cec5 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:726d0557-6af4-48f1-ad8e-35ea8e4ea978 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:651aae7b-841c-4b7d-9da0-b18de92e90cd phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:669dd266-0d74-4d5c-9f57-54da89c53047 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:02f5254f-75a9-47d5-81bc-3e83f97eaf2d phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fd6a702b-a8ce-4bc8-abe2-42a7df7a12c8 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9026a76a-5660-437e-a00d-cb03be2646d6 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7c715fe1-e214-4e90-afc2-519992659634 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0b44f02e-74b3-44c6-bbe7-ca356df5b51b phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dcda1b69-e918-4017-9c2a-174f9daea07d phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0906f7cc-fa97-4e97-91a6-4ce17310bf74 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fe9c325b-c7a3-4c01-ab84-9f1ae677c50a phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:74abeb90-fc5d-4a52-b7e4-d4f303fe857e phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3cdc8123-e254-442a-a2b9-148d1d1fba66 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e9f2328f-554c-4af4-9179-2a463df716fe phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:340568bc-e14d-4583-a72e-7d548d918e84 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d96c1554-b82d-424e-ad8a-3feb87b4e954 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:71c0fa0c-873f-44fe-b99f-20fe624c7ba4 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:204b90d3-ed8b-43a7-a5f9-77f940f0e700 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4758cecf-c692-488d-b9db-86186c410802 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:02418b19-f81e-493f-8369-549985ff0709 phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:e7ee6f82-07dd-46ba-bf70-88aea699ddc6 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d6fb30bd-9791-47a1-b322-6f6c0c4fd155 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:006c79d8-97d4-437d-adb3-6ef27f9a597b phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e536001e-1a3f-4455-8691-bec416bd918e phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2acf9034-c82f-41b8-820e-5b052e72f962 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:06b2b2fb-8804-478c-b866-d3711261b263 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:94d0548d-7733-4de3-b017-46db104e0659 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:89b77775-5f7c-48be-8ffb-798c202e0955 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:0915a696-dddc-404a-a59b-b3f67f099748 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:89d47f89-faa4-40a1-8bb7-37c2aaac507d phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:300282e7-5d97-4a29-be52-2063fdace2ec phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7dcedf9f-5377-4b61-b29f-26e5be08fee1 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fdec7d40-1b31-41ff-bdf2-01d98269f3fa phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:95589d17-866b-4e5a-a0ee-074f71f7f3b6 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:bd20777f-28cb-49c5-85f3-d4669bf7cc74 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4b2c5063-caaa-4a55-9862-e76900b28ca2 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fcd31f6e-8dc2-4183-827f-9d05008e8fcf phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f7ece4a8-5534-480a-a107-dfde4a09f983 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b45528ef-2f52-4719-9491-89e419c8dc65 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:53d50aee-0122-4765-bfba-9b84d8b9c809 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b88796e-377e-48c8-995c-412a5142bb60 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bd9a0c47-7ef2-4d79-b9ef-1e3e4c202c3d phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:771170e4-eaf4-48cd-82f5-1a9c99d63e43 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:35f6f3ce-a616-4de6-8d74-eed536c6c2f1 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab0a92ad-8c8d-4d23-ac83-2533505902d8 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f51dee62-1ebd-4aa2-ad30-040280ff8432 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2d1d9d22-52c6-4bf7-a41d-abdef9c2a460 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:796d61ac-619e-4d9d-be01-7f8472221352 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01bd2d9d-f6e6-4d15-9d7b-376dddd71863 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:82d4bc20-570e-4b67-aba6-dc7eb32f0fce phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2b4d8897-607b-4f86-a107-dbe4d46c7b71 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:49050202-a201-4ebc-8843-6aec91213be3 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b220fc93-8149-4bb2-9a92-675dfa66f2a9 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:51215845-decb-4f5f-adba-bacf30fb206e phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28853f9c-cda2-4c31-b722-78b6954ef5b0 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2573b90f-149b-46ca-b3be-37004f99486d phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4bdb0ead-b3c4-48cb-8450-43e8530d0afb phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c1000fc3-4db6-4774-928c-08a6280bddab phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e8247e8e-0825-4dda-9574-72feae3efa66 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac61208c-18a1-4055-91d5-e3922f1a71c9 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dccce7d2-4d14-473e-aee9-a7738bfd7de8 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b8a615e4-d136-4090-853e-b0598f6e0196 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ae02402d-ed6b-47d6-a2e2-83bb61a86fab phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c2116ba9-926c-4a65-a1ec-352382da37ae phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8aeed3d3-6307-4c6b-ba69-a3b50c678022 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a0519235-9a84-42c3-9e6a-62eebe1bd5b1 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cbed9811-7286-4499-896d-aa7f9a40661c phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2570695d-17d7-4bc4-85d3-350e8b2d0a44 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8e6b7e8f-bb09-43e0-9f8e-f6dca28f6094 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fbcd2309-2ea5-4475-b796-3ce817121772 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ca2e665-cd65-47af-a66f-98f8cb3e9f04 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0f8364f9-16a8-4a2b-b0e9-3ee3cb3ef81b phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:89d58574-f33a-4d0d-8ea1-9a8dbd9c9b04 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bd07ccdf-0073-479f-b3c3-91472848d68e phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6e878ee6-1412-4a7c-ab2c-d1dc23dabf4a phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:43cb442e-d0c5-4947-8b34-98b6d748e32e phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0e6d7105-5208-4703-b40f-922e50810c65 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c12a0045-48c4-4d01-8de2-f926ef99e9d2 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:56ef01c9-9fa7-4c51-8421-94e0c83d4ce6 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c39e90ec-95f6-4a5e-941c-2f05485e737d phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:45c0d688-c976-4fea-8b1f-5d6cabe4271e phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:300a09aa-3ba6-41e5-b486-da0a162e08cb phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:157cf338-df15-4dfe-9768-328798153c69 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0c78d308-0557-4020-b84a-85a45c83c0b1 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aba397e1-0425-4a76-92b5-216bace6c3ff phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0101da3c-6a74-4e2e-9b31-ad82fa955a0c phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d8be5a48-9c4f-47f6-a9a2-1f1c82474a51 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28a3bd42-a7dc-4ed9-bc7f-340c2d6ee920 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ccb8a4a8-7dc5-498c-ab5d-1ea377d57faa phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3fe99826-2de4-4d54-9113-4ec86e002386 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:02379dd5-bb48-4fac-b0a1-7185b21e8148 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2f52ae9-4e2d-43ff-8032-ea355b74c58c phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4d6e232d-5dcf-47f3-8cd5-9c78cf798c94 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:20a09462-da3d-4ce8-94e5-d961652caa64 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bce99624-3930-44bf-9a0b-935f2b245849 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09337657-5ea8-4ddc-8598-a09e9cfcf678 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:63dcf3f7-e90c-4213-9280-a104e0108fa5 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9e42e1a-b6a2-4be3-b1f5-d91adfc0a11b phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f0b417b-9206-4518-aa94-4e8847416e4f phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99f11bb1-82ca-451d-9cf7-3e450f4d26cf phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fc611138-4c57-4d10-b491-c604a7e4371a phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fdf82766-d87e-404d-a4d1-94a4fdeb2480 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ffab2864-a63e-4afe-ae21-6230187bd339 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2eda7ba3-6728-4246-bf8c-4c3aebc495de phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:812807c0-2f54-45f0-b2c5-3d8b2218bc21 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91f9fbc1-5dc5-4ffd-b5f4-5dc583c36df5 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d7cbb97d-4d3f-4163-a9d7-3681c1c708f8 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5bf510df-c02e-4dce-8369-47e041924548 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:13de92e0-9b20-4780-a86d-69b280f2d183 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4a7a019b-0ba2-4e66-824d-e61b7c8f6abf phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dde1aa79-b550-4cea-b985-ce5435af93f5 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:58fd0459-b1c9-41df-9a94-635aa88f80cd phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3112632c-0b47-4831-b048-cf0a26bc5748 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0c45d692-8d2b-4182-bb08-540108b7e619 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c764bb4-e87e-4200-a62f-984cf56d523f phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:de260ca7-0b85-47fa-a407-368c72710393 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b08bb562-7b2f-45d9-ac81-dff3d1375e8f phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e9586362-b609-41cd-bb75-c0ec79037d24 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:32180629-1861-4a32-9120-c310f8770153 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f5e9962f-be16-4f57-ae7e-3043e98d7864 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c5fe62c-8474-44e8-a7e6-320eb685cf99 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d60c00e0-9ee7-4d7c-908c-b674ca47cff2 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:35f0bf46-3a6c-4da6-aa32-dfd711786bb0 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7d99e449-e6b4-44e0-af88-f2072d581061 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aac3fa79-2cb6-44f7-a497-013d08032249 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:5e4ee35a-b8f9-4388-ba06-70baa4815261 phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:db923fec-91c4-498c-8a83-3e34ee513c6b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:0f554f8a-121a-4956-9fa3-87a7df6e7280 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:548b67f8-0105-40df-9c75-03e3c9f3321a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:5af85abc-1561-41c7-86da-9fc576a0a5c8 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:a01506d6-fa51-4819-8c1b-273242d85b35 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:122041a9-2e96-473e-bf47-e24b256f5755 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:35b38add-3d6e-41d0-bb01-ecc2925df444 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:066f2386-a659-4c5a-9d9a-9579a6d227d7 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:23876d2d-7894-4bc5-bbb8-167b6f950a44 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7df1c6ae-4ac5-418d-b3dd-a9e87488a87b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:10221d39-67ee-447a-bd96-f6dca86193ff phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b8b9818a-da2b-48df-83d2-6024425cedc7 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5889944d-5c73-4fb5-9642-269705eca78d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0e656cdc-5965-428c-af90-5c6f5e7914e6 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:52cb936a-1987-409d-9995-941d2dc34cef phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:af81de97-1587-4e42-a249-090d30c378c3 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bbb3ea6f-f2a3-4394-8116-eef784fd15cf phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2cd6ee42-f263-4340-95d1-1dc172572444 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2fa9cbbb-b8a7-43f6-a716-00aaa62ff134 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:26c18703-8373-46d2-808b-0ccba7a157ec phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ce71ed94-ab45-4a57-96b5-df42704c751a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bdd6f8f0-4a9a-4e23-872a-5a8110159053 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8ef1a79f-a483-4c1f-915e-fe2c71b3497e phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fe98727f-9624-46f0-89f1-0ced69f638ff phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:262ed390-a764-4b73-bb50-a49953d8f38b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ad871017-cdd6-4dba-8f93-a80f6b6f5174 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:90947ed0-2681-4f89-a958-2f2997801de8 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3ca5574c-4f07-4695-aa4a-cc6523c42811 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b0a958bf-4495-4005-afb2-219d7a02a419 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b88fe460-820e-4fe2-be4d-76872a0d236a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b363e528-9670-4e5f-8ecc-5962c912d449 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e4a85bf4-47a9-4fe1-9e4c-7e25e1dfb6cd phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:496cf04b-2c1f-4985-aeed-fd99fabc8546 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e1ae8220-3efa-498f-bacd-0fe520776318 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:269f9c78-5213-4afa-b1f0-a030a00bea8d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:04279e47-de8f-4c35-9997-f783e1a98eb6 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:21fe8214-fb37-4b68-9d98-82c43aabb5da phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:23ad5d45-41b5-4af7-9433-7b5f67d63cee phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ac26c7f8-ce70-4adb-b354-a92f10f1fe79 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bc51eb95-5023-4c40-a1c0-64a7835dd7ff phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fd25b076-f2a1-4b0f-a8ce-78be7570a5f0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d3946423-1491-4974-9f50-0674b65c953a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:504b9249-1a0f-48f1-8e64-dbc31b47f58b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e29ebb1e-3a59-44a9-af6a-43e3ba50b29a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:07b1a080-273b-4e00-8d4c-ca0eaf919029 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:100fb853-1800-42e6-ac5f-e3595fbda73a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:96de1b75-de59-43ba-8674-b938671f0855 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:71158c40-5f75-496f-b31b-6b59abebe378 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b9718c27-1082-4c1c-8d22-d3271f199fbe phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0b784166-e1df-46a9-830c-47045bc030e7 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6bf67010-6fcd-4313-b50b-97cd5eea5c86 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5f59b771-98fa-4cae-b7d0-86ca428c37dd phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:86a11b09-c998-4e65-942d-40c7fd497d3c phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:df6a3f6f-c71c-40d0-bf19-ea1bf63b800b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4ed9ca99-f689-4aa4-988c-43fe1771c020 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ff737132-345b-4bfe-8785-047f91c9d350 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2877f5dc-b731-45ea-bad3-ddb8c5eb5c56 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dee28a40-ac9d-48a2-ae9a-161fe40f9ae3 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b9df9e43-0dc9-443b-bf94-73fa670c4156 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:80a2f732-f1df-4bd1-bb18-c3f2cc9b6d0f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:390fd0d9-d6c8-42bc-a974-a91b314e2681 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7d632ce5-9204-4dab-9d7e-7f620ac74da2 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:19961edc-ee25-4ed9-b909-172466aee313 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:51e47e89-9296-475c-ab7f-b443f78b99bd phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:865c6b1b-a9bc-4c00-93e4-a5ab96540b1b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:de4ea358-dabc-4bdc-8b61-75c96e26141a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1d2f875c-d6a6-44f8-8fa7-792b3eb6b7bc phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0d66ca34-795a-4d19-8362-b684646c6049 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f547ff1d-be51-4f03-a7ed-9d91ba933201 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5d3d2794-2831-48e7-b418-8b8cd581efe3 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:16d1b3b4-b61e-4cd3-82cb-b4a5e2758395 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6fb1b896-90ce-4959-bdea-b96b3b5f91bc phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:79eee3c6-0f4f-4f8b-bad4-8ca0a1618f14 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6e69cd8d-bb84-4b54-a4fb-d139370f1a87 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0f79aa59-4d4e-4ac6-89f9-8ba7b4fa0f42 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5dc1a62f-068b-4132-a7a3-92bd7cc9934f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0e9f8403-5b5d-45dc-9cd7-acc3acbd96ee phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9d194ae7-03d8-461e-9abb-0b5851a89083 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e78b9a65-e7c6-42a8-911c-5ae9946e6eb9 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0ac48cdb-1fab-49ac-b6c6-fe4359ea901a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ad8acdbf-aa90-4cce-97cf-62d1c935b1c0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:695d0777-9438-4c2a-97bd-1116bb1abce9 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:fee990a4-9d1c-48ab-b0d5-d8d2f40a7468 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:25455383-d472-4e03-92c5-ad5d9c927f7c phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e761cf6a-894b-4571-b5ca-ae08b07627b5 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:07aab3e3-19ea-4862-85c0-ea3065db92b4 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:3a933796-bf63-4c1c-b6d0-4a3786ab6589 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fd97d4ce-7612-4cb5-b3cd-65cc82aa9529 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d6993d51-def4-4d35-8fdb-7b1fa87657d3 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:928d4635-691e-4bb6-94b1-5961c3a13edb phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:95212a9d-218e-4e36-acda-db47a84710e1 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a155d17d-a321-4d55-8e00-d432bed70fa2 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b30177fd-801d-41d8-b9b1-bc3cfbee010d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:19b5ad37-5460-4e4a-a095-4833e6dbdb63 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8a5416f0-4b1c-4116-995b-458487dc8bf3 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:eb5b6c35-51e5-4daa-9e58-3d069ba10546 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:6e9dcab7-e417-40c2-bb33-a2eab52e9b99 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:151e996a-e40f-40a2-8c67-a64e2e7bcc3c phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8ee19b1b-37d3-4a71-93de-69915254930f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b228057b-5892-4f91-b4a1-00b4ab9cb38b phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e463a0cf-66c6-4c2c-98fc-a17ba280eaf0 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ae6c5b71-91d6-4692-9e0a-718c78afda10 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5b39be17-dce2-4058-8113-7b2271dd27f9 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d4dc2be5-3eff-4acc-b7cf-e9ee20152145 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:750b635e-414b-403f-97f4-5977daa02053 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2f23dcde-1e99-4467-9368-3c30d8960057 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a46d9eb6-d540-43db-99ff-14dbe68d030d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:94a263cc-545e-4c4e-853b-3e85c6a8b1a9 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:6c8f397d-8edd-4895-a393-e92e3a639c75 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c14647fe-26e2-44dc-8452-01ab4686ed10 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4e11549d-1de0-4b7f-971f-cb31117ad44d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e981fc70-f403-489a-9432-8581b49b6d8e phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b4d61ad0-262d-452e-a9ea-acbbc5506c72 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:463f2501-eaef-40f0-b709-0b40d2bc74ef phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:deff7211-4f9b-444a-a0d7-fb3c3ac7a6ce phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac4fd375-94c6-4336-bbee-017c2fbe8fa7 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:18e10288-3aca-4df7-85f7-3879dd8a9950 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f3775d93-eeac-4487-b464-076d2e5b400a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:595ab205-a157-40ce-9b87-5237588ca747 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1158ec75-d53c-4876-b56b-c5fb792e68d0 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ac53f71-5e7a-4ac0-90f7-0aac14426a6d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b52b5812-6049-48f7-a3e0-47118b8a16ed phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a75e907e-b188-410d-8de6-862b20b6690d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6247085f-3dce-40ed-9508-23fedfa439ad phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a6e6e7a7-1e33-486b-bdaa-2a9dbb65502a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f2271c13-6a9e-4f44-a785-68749d69368b phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8e0c8f42-a81d-4416-ba14-29ced6aaa4d8 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:80b94642-4623-4eee-a79c-2f0a9d0919e5 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:688ea34a-05f9-42cd-a422-4c0683585453 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f181ced2-1b7c-4bee-b62e-2f6b9ad7bda1 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:006b17e0-8812-4720-844c-7f808fc6277f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:105c2dd7-d0a3-4253-85ef-d7ab9ed29c21 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9f216612-be16-4a3d-8081-b85f176fdbfd phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f38cd50a-bc58-4602-beff-47932c071f8a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c7f64c2b-a833-44a7-a612-81b0a8d6ec9b phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2252357a-7f18-49bd-a6cd-74fc6107a27d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e35968e6-a7bf-4d8d-8185-d17b1dc7b54f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:408e74a7-847d-4f0c-92a6-560c7067945a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2740e644-c3a5-404d-b912-e824eb39493c phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6a0ee785-e2d1-4387-bc94-947f58f87b68 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:47cc3496-c23f-4afb-8918-c30583c43734 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dca326f5-31c0-4693-84a0-ca9e32156ab8 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a1625f19-67c1-47b0-908c-79de8781d829 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:08479891-790f-463b-a7f8-ef895644d663 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dc4aaf19-e138-419a-bf9d-f6987656e28a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f9206bfc-7c3f-4b9f-b483-9d91e6914e3b phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8349b7a3-77c4-4d07-9f8a-f7fdc9ea0adf phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:35a50fd9-c035-4c29-bd90-8af08f005b12 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a10ab050-4711-4223-ad3a-bbe2db012bf0 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01ec982e-3c3a-425e-88f3-e9702f083cec phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:740925c8-fbd8-4285-a512-5e733f9fe11c phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d15ba2d8-2422-42ef-9cd3-83cfc0ffca3a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:18ee3189-1513-4735-84c1-3ae14a7863f6 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:850d98d3-0047-4864-b841-6451f0a20f5f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b72738f4-72c8-4d5a-91dc-5c27b9131b56 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:60ff2e21-3378-4c28-9a1f-47123a5514ca phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:56e3c9d9-dcb4-418e-aba7-a76c294fe917 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:106f60fa-1e87-4f23-aa79-c00fac938ee4 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:37b40b79-c5dc-4993-9046-4f47a8222c56 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6ea2de28-591d-4262-b197-c82de012c420 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75bc04bb-51d3-438c-bc11-d02f64f916e8 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:23dd6077-7fc5-4710-ba46-9b69d6ee638d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cee30148-7223-4679-80b4-670dd5f36d50 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d2bc9a8c-8e7f-482e-b5a6-ba9e32ea5989 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:136c63a4-9e52-42ee-9e7c-163f3751460b phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:619d4319-1ca9-415a-95f1-9efaf76a6fd8 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:368d5dba-bb9b-48a3-ac74-822e3461200d phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7ea31521-904c-42ac-8a13-1bd3cd2c0bf0 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:92581ed7-ba77-4f26-bf94-d222bd48db56 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:be24f940-10d1-4fcd-8fca-c480a55edd4b phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6c51efef-366c-46a2-897e-ab776662e14a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:486ad306-f015-4fc0-9a62-2c52ec569fb2 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:73766d23-f417-47ef-9fbe-9f76f341d46f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:69295dc8-75cc-472b-9cb4-1790b5ef6611 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b361d74-3c16-4532-96b0-50df1cfffe81 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8a17e4f3-8ee1-4faf-b573-57eaabbdf49f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f66b1d46-cbe0-43fb-8545-d5097f816069 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b751644a-1eaf-4452-8d9d-24d55a34a4ec phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75e56392-b756-47d7-a808-0d4294f70dd3 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c88ddff-b95b-44cc-a463-3d4af9317b5a phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:87ffaff3-27a1-4d2b-88a3-438798511515 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ffc55c55-14a7-491c-9d3a-2c87d11fa2af phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9f884939-a2cc-4e14-b17c-c250eb4f7467 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:128be7ac-0568-46ab-8979-8b252e240d71 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6586e217-e4e2-4f4d-824c-1d4d34e64a63 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cf33b2eb-7e6b-4c0b-b023-3cb6d4cdbbed phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cb4025bf-8888-45cf-a54b-525e81edc1d5 phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4610cab2-a811-4f49-80b9-5bd47ecae92f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a1e4c7bf-e0b3-41f8-9660-c3bf147996ad phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:6536d206-8056-4091-80c9-9aa7d68f818f phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:23ce7078-9b47-498b-a45e-c0121a442068 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:3fbcdf29-cff7-4671-acbc-4f4778cd627b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:e581e57e-2707-441b-82ab-5b4b6837ffc8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:7906ddfc-b5f4-420e-a861-5317c3eb0679 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:a45e6b61-5bc6-4c9a-aa23-f154b53b23eb phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:27f04625-5e1c-41a8-a3f1-7cc4b098cff4 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:83d70ec2-9de5-4d9b-86e5-1820a568a5f5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:59c8030b-cc73-4cbc-8319-cb6f3fe46de5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6ed35e99-b3e6-45a7-aa64-8172301a0f47 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:aa98abec-ebe5-40fd-a575-06353255bc5e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d08fb628-c901-4b53-bf67-3588da74a37d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:df91a610-a409-4970-997a-a78d54765771 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d8c02284-4a38-4d01-9669-55f8f1b40911 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1a3a672c-0d25-41f1-b01c-4e3a0a64c315 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ee324deb-ee02-4690-82b3-e656977887d0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c6fef765-720b-478b-8ebb-85691268bfe3 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:714a704a-5119-48fc-9035-b4c80e9b81f5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3085a3a5-3440-41ff-8bd9-381f4d72166c phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:41e8b6dc-a26c-47ca-b177-e46f45853b13 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:291abad5-aa09-43dd-af47-97c66b536502 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:af2cf5d9-8f52-4676-84b3-357c331b1a31 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cf247533-a464-4985-93bf-3338508e1667 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a9274d9f-a277-4769-99d5-bb882b5be824 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cc2a13fa-02ff-44a9-86bd-efe65f5c61ab phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:937dd75d-edc8-4412-9381-b90c91774fcb phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9b4e6f75-1894-485c-a424-08b88cb5cb66 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3d196e9e-f716-4d34-bcb2-2f63e94ce55c phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e8b94b3c-099f-4623-8deb-2033fb3601a9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bdc1a3e4-b45c-41e9-bfe2-7875e264bcb9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:09949a11-51ae-400d-b0cd-6aad8bc766ed phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3fed7f39-5b88-437b-8566-26af6d2a3159 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:db93d608-eb33-4897-9a29-fa373239fc90 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:df8dd6d5-6042-42cf-960d-308c599ffc6c phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:02710b32-ae5c-4dc9-9761-dc5e559f3574 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:27b6f0c9-9d36-4ae3-aaad-18a6a8c021c9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ef764057-6f72-4d0f-a1e8-70b1762e48e5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ea3afa0e-e93f-415d-b3a9-9cf426776a75 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:928b7326-3c36-477e-bfe1-dabf2a0de272 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:207238fe-214e-42ed-83c0-328ca7248f33 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ef812a92-361f-4f06-b3d2-4c3f4653b67f phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e1ce0b4c-9a9b-49aa-ab9f-2059c7b90ee9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:601876ce-941e-4ab8-bbb9-63498682b1dd phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:262dd3f3-951f-4c7e-9b21-027cfa05a23a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:986775f1-18d6-49f8-9aea-a6aa7d49923d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e44e025f-2753-43e5-8b2d-063cfd87a611 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b360752d-3e51-4658-af97-bd655aff2ee0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ef39b773-3afb-4ddc-832c-56fd43aafb0a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b127e3cd-37cb-4ec1-a698-d843c100ec32 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:25b80715-042f-4504-b898-2e3e4856d660 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d592022a-627b-439d-8c8f-07230c8c87d7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:25fb0dae-357d-484f-9821-5e21b60bb7ac phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6e562df8-93eb-4ea7-8026-cf9938190526 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:be28ece2-e68c-49c0-9928-9165c9cdb0ea phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:116d61a4-89a8-4d09-a3fa-724b7f41899e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6638380a-2057-40d6-8a64-4537feab4f38 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b11acb78-5342-4eab-8fc9-058ecf6c7cef phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:11f7f21a-efa7-4515-95a6-3bdde8205de0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0c2c61c7-e5c5-4efb-9a34-a2fcfa6ba232 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4e30882b-e0db-4281-b348-15b68197587e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fdfe5b8d-88a3-49cb-bf06-8f6cedf244af phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5be90ac7-0740-4f95-a3f2-a281d6821745 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7552f7d4-984b-4df3-95c6-75a571d7317e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:00bda520-6327-4d2e-9cd4-3f2c6e3aab18 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e725eda5-1762-4608-9eb8-5de4e18e099f phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:95acebf2-119f-4886-a8f6-ba4874a0bd50 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ccbba8aa-ee24-4d36-8ebc-8ba87a3c2190 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:838f8900-e868-4d22-83d0-d6929b0c4eb1 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8bcb1a99-fa89-452d-80ed-aa50f225461d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8bbdabcf-40af-489c-a405-b444710f8aef phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9399d2bc-ff8a-4110-ab68-b3f85df5cee4 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bd61727a-f51b-4bd9-a1ab-24ce73ef2d7e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4573fe9a-bee9-49ea-a4e2-8b2bb5485084 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2b913f94-ee48-48d9-95cb-8bd1c58d5510 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:97801eab-e15b-4a94-a266-042368ea6ddc phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:df850f50-9b77-4a87-9a92-74aa3619a584 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5adbac20-38a1-4998-a126-1dbf6db1582e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:88bacbf2-d5c3-4d4f-839d-6b5ab53993d2 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f89a2210-ebe8-4b9c-bd3c-e26aea1bcc4b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ef74263e-1228-4ffe-9e3b-4f2e65b3d7df phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:58d5d947-0c67-4faf-bc67-484dd2f03f93 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dc1b7575-dded-4aa5-abfe-e6eeacd26de8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4e3ad640-208e-4d98-bde2-3e1a8ec07e46 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e29e0b04-c30b-486d-886e-272127a00845 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e5ab14fc-a6ac-4a60-9940-42af885f01f3 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:90590e2f-9733-44c7-a4d0-2f0a8ce27762 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4edaea20-d02e-46aa-8946-97fb88b39d35 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:7d90acf0-2d70-49ce-884f-406e20594097 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:1bef6940-bc05-4d93-9fa6-db12f7dc399c phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:102a8ecb-9ef7-465c-a143-653deaf2599a phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:61566a6a-2f7f-4465-81ee-d89fddafde3a phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c041d461-3a50-4b8f-80a9-36414bf3d582 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5e9c6fec-0296-44a8-9f6f-497d3d8216a2 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8c9ece62-2feb-4597-b59d-ad24bb594bba phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:20cbea8f-1e9d-4d8b-89a7-50ff274978e7 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:145404e8-6961-4375-a655-64d275e43e58 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ac3ab94a-336d-4daa-8ca1-158e0f9854e3 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d3354fcb-8a44-4bf3-b905-769c261d590d phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:156e290f-d176-4463-b82b-3a8ea60fb83a phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ecdfde1e-da50-4360-b8c1-3796d09955c6 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:16b3f34a-4ac7-4e4b-9189-0e23ad0a1723 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e67e0bad-a783-4b4d-83df-e3375f71737e phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:625c600f-85d0-48bc-9657-53f11c60e1f3 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d2324e2f-9218-48df-84ab-befb889df33b phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b5b885d7-6d17-402a-af0a-1b11dc05fb77 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a43283d-0155-44a1-bded-7761a111b996 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3503d0c7-6bbe-4a11-b254-2e46cb1c6b4f phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:40044871-f662-4c62-89cf-a55e199cbf60 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:590a97b4-4832-4c71-bed6-36ef0e1289fe phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f497b93f-b094-446f-86e4-dcb53fe5f998 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0755dd82-f82c-470a-bad9-dcb74d202c2e phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7de987e3-bec7-43ab-8bf9-f01e2d9da355 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:06d51227-59f8-4afb-bc54-9e3c48085f82 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:799be356-1f5e-4ac1-8ef0-e520ef11b8ce phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6388b325-152b-48a4-9e15-8d5de74f2351 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2734256b-54f5-407e-b3d5-ea8885d84574 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6b43781d-83c7-4358-9de5-8826246c9db8 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9dd39082-51aa-4ee9-8207-814613a1a8ad phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:651c52ec-6d23-4c84-a040-3c1ee3d34efe phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:74e876d4-e39f-4966-b82d-39af57cadbdf phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:34a3585c-b2df-48ac-9899-de90bbf51211 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac74a884-b774-42c5-a72d-af7361e69476 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d5ed4238-6532-4be4-afb5-1614a5aa6a9a phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99ce5cbb-5f75-4a2b-9502-d7e619be6600 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f7c7985-d72e-4d26-882b-01bc930e23be phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8994a539-9033-44a3-99c7-226b3da56e28 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:02af163d-0168-4512-960b-cbb56d03dbc1 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:836ee647-1327-41b8-bc9d-2cd649ec1d11 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4647978d-dd60-4810-9590-bd76ac5c9bae phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a5261561-7fed-4a3c-86e7-8732bf96ec92 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bd365334-c61b-42cd-938f-f732e3e1bf29 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:071513c7-1674-48e1-b234-08c0a2942bf0 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eb0cbabc-715f-4c29-90c6-1b1c0bef09a8 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c0131efe-2a67-4e97-a14a-0e5db6f2ac07 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:44b18b1c-9f13-42b9-b1af-e1b38033e655 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2e8d813e-6469-4a28-8a9e-2eb312229be6 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b15705b0-16b5-4961-a4e2-dd76ce70a910 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9362397-e9d7-475b-aa85-6ddfe5f8ff3f phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a7739070-68f2-49a0-94a4-bf5f5ffdc842 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f4ba15bf-8d3f-47c8-9c11-1bbf4ec7548c phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b3e60b64-36c5-42f6-9b88-e0a0bf43c121 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a70a288e-48fe-48b3-abbd-632e1244512a phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:018d9205-da56-4cba-9bd6-7451089e2ee5 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5eedbbac-b54c-4fca-b9d8-4132c1c58180 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:566b08c6-1301-47cd-96e7-5515ff531fa1 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d06218c6-0065-46ed-8066-a7eb19644ffd phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac2f9cd7-96fb-4166-867f-96b67883ecd5 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6a2da120-8aef-44cd-b06e-78f9cbe22841 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3202b9f6-bf5d-40d5-a7bc-adb7a8a7ccae phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f8d5fd34-8f77-45f7-84f7-18a6c8de3c44 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e2990816-e74a-4ea0-8d5e-12e828cbffe0 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:79c12758-e140-4b07-a9d2-0157eb277d6f phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:466496aa-e48d-490d-8667-8cd10d43c69c phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9e6b8f49-63ef-44e9-a22c-e59557171dde phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d3b6d554-0cef-434e-9f0d-0d5be44d9e8b phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8ffa7343-51ca-45e3-bf9b-765012539ede phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:57f2f586-8335-4b50-9104-6bfcf4f93361 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91b42e5a-9652-4ba3-98dd-00ac2b8a45b8 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e687207e-e249-45b2-8379-a63ce3349d5b phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:32171508-b269-481f-ad59-2860a88623c5 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d4a7e17e-7e7b-4d01-861d-275fd64c70dd phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:58adc121-aaa6-495e-8dad-b9c654c2834c phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ada5843f-5f41-41a8-8cea-5cf5cbf43473 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ec7d221a-ee52-4e9a-a109-ee13a76f11b0 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fa5d6663-0873-4a60-bbce-b57c40141322 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d60911bc-a400-4da3-9cb6-8efef29a90a8 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cb035aed-a08a-4655-bcc2-aa78db4197af phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e9412483-327f-4b9e-a80f-92ceb8259a3e phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a6048923-e70e-46de-92d3-f2792455b07d phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ba20b2b5-2728-429a-8911-d7b15a906875 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f23fa0a-42da-4083-89b4-bfe9380c99e7 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:207b0d2d-7283-4b8c-b0cc-c73004c03a0b phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:575de875-1fd7-4c8f-a305-7add444d7be4 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:981b1f19-c6b5-45ca-a168-a662ff05d885 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7d97cb19-7c72-44b7-af86-e7229b7bda75 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a275cf0f-0f47-4884-b674-e93d54eb6d45 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8658b3bb-82bc-45fe-9b07-80c9513eb561 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:02ee0649-bd98-442d-b358-71a19de2d553 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dd9b57aa-55c6-4b96-b1d5-de9c8deaf9b0 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1a2e3e88-baf7-4720-a3c9-1005c44e2124 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d2e5a68d-bf52-46c1-a4ca-65a489267647 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bfdd87e7-a966-4a9f-8b58-f4635fc338c5 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:536f6114-b570-453d-bfa7-6f7123836258 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d6d31ba2-f4f4-4fa6-acd2-e0e88b049d51 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fd2b42f2-ca56-4e2f-9473-0bf9f8b7be54 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8c9588b2-e0b9-4ef8-9cdb-72e41a61f58e phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e37bc5f6-f805-43c4-af2e-2402e3764f16 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a29dd748-846c-41f4-bc1a-b0aed93d1954 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8d63d288-5148-4c00-9ce3-02f164019454 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:973af9db-fb56-480b-96d3-aa8edb2527b0 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4914d10c-4261-4e5b-88ec-406a7b296b1c phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7d91695c-f87e-496f-a04a-b129bd3b060b phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:83b866ff-455b-496c-9512-6dadf5a72766 phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:74bef65f-5070-4749-94ae-6fc2b7f2b999 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:07ba67e1-e19b-4f65-9456-ecb182452246 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7dfe4a3b-a1cb-4e20-87e8-4f0ff841bcf5 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3c07316e-6f1b-441a-a3b6-7ac72a7b8aa7 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1d31d818-adaf-420b-a278-11842adcb738 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9f2f9b99-af24-46c9-a705-c099a74e0961 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1426656c-d5c9-4556-b780-bca7a1bcc915 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6c58ee5f-fe6b-4ad5-aca1-ebc77fd8e49e phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5005d007-d876-4c69-bb2b-4df9bc1b04bf phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1afe6bca-11dd-458e-ba72-ce00711d88ce phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:60b89274-77c3-417b-b6ad-632f0257b155 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:083b7d61-07d0-498a-945c-49a012416d31 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:31c929b9-7db0-4e5a-8da0-81f0170bb3d3 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f2e7ca6e-f686-46b8-9782-b38ebceb22ed phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f45dcf8f-191a-44b0-a4ec-1f8732c566db phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1d6ebaf7-4ac8-4e23-8cdb-3d2ef11ff3c1 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a50a5a05-4b2c-42ce-8f43-684b1332c5f2 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:81f36bcd-180a-419c-91fc-b454b66c756a phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e73d4c1a-d19a-4b86-83e2-9536c531ddf9 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:608f19de-d22f-4350-9588-3fb47c63f5f5 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c416ea46-56a3-41c6-bed5-0daf03297aec phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:33d1937d-a171-47c3-b60f-70ccf723ec62 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:28283023-6a6e-42e4-843c-d167d64c63f5 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8eedf766-1236-43c3-9371-c801d996fb39 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8a846cc3-99fc-43c2-a5ec-287f4179e654 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8255370b-6f89-48ee-b664-e3efd6222357 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:32b474a4-7f68-4132-9536-f301ee1a79dc phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:eceb039e-556f-4a3f-ac95-001d26de1222 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d5c63e1c-e384-4d60-9e03-4d96f4d49379 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:35f9ce19-bb02-40e9-8677-d804c6ef9ac4 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6ff28964-eb41-48f1-8a31-f44d6087aa0d phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0af313ea-c37d-48d0-900e-b0b0aac73f94 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:304ad8fc-0b21-4b63-90b7-e3776409e700 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e925a9b3-7434-4cf2-b1ee-85719eda3653 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2a99baa8-0b58-49f0-a5de-b7bedcee5082 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a2bf0cbc-5063-4d3f-b6ee-4034c5baf31c phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8f3073d1-14a7-4afd-b4af-9a14b919dffd phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f3e8b945-f59e-4487-b581-0f0348fe4340 phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:1e852dd3-dad5-4a2a-b95e-18887d8c453a phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:9c726734-d2a4-4b86-89e0-4707e045a561 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e5466546-cc4a-46ad-a4de-8765592b6cbc phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2d183d42-393f-4932-8fd0-0bb8e36eef1d phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:efd6663b-95be-4f62-b271-0f46b028c3bd phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6d5d51f6-2ecb-4d69-a06a-83fbc45c616b phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:9eb31046-1d08-4143-9b26-72c07df14f0a phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5138f123-c9d9-4240-bc7d-556238a31c68 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1902ecdf-6db9-43dc-b5ba-e445b6801a1b phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:80e27649-af0d-4283-9570-0078304fd77b phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fd4333e5-8f54-40f8-b2cd-4035b610d1c5 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:19ab7e34-bf8b-41a6-81a9-3371b8cd0b82 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fbf1840d-5184-481b-87fc-1188c7e41fae phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4a7f3889-d36e-4ec5-bc3b-df2413d40d28 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6a99a852-9949-4b66-ae2b-506aa6a6af0c phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b1e1e054-616b-48b8-9d58-20717b228236 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c00cdd2b-2517-4807-a106-c48e64ab8007 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e3b1e987-7e98-46b0-910e-40a3cb2c3c6c phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5ed6551c-e9a2-4226-a610-3e8562f41f60 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a0bbe549-25ab-438d-aea9-e2da8292cf5a phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aa3bad75-d940-4456-b99f-587f679daea7 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ff5b4ce5-0e11-489b-a46b-392c0b8cacbe phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6142860e-365f-4836-9b48-1553a7fec8cd phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bff1f41c-160d-4fd5-adde-60c5bc494fd7 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a6b14fe7-4a01-4480-bc01-95963c24e744 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ccb17aa0-6250-4da6-ba25-ee0b380a7ed2 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cc8e1f51-795a-46d6-9d45-98c529e49e52 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:380567c5-690a-4c42-8f2c-d47720f79546 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b96cc4b8-77de-46bb-b303-bd90b3eb1c73 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0ef2f0e7-a8d7-4f85-af0a-c7f73e2cd43b phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1d339d5e-cfd1-4d5a-b412-59e9223f1bcc phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d1366752-15a4-49c8-beff-1f0354eee855 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bfd4c7f9-e369-4287-a8bf-79c787141790 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2759e436-0b4b-4362-97a8-ba74cc910290 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:afa6d410-b73d-4bc7-bf55-f0b6e4466c03 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d5edb9c6-2e86-4921-a41b-5fd836d3e398 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a33dd626-b6c2-4120-8848-24799cad960d phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bd9235b1-4ceb-4dd1-bb83-2228478ea1b1 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:94a714ee-7228-4f8d-a5ac-773e78364182 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4ed61e46-ed26-4f03-97e4-9e19adf362d2 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4354c1a0-f665-4028-9da4-e47878cc701b phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:2b80a2b8-74ca-47c5-906f-edf34fc71c03 phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:05cb3c29-0eeb-486d-9953-6f37bb9d2aaa phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:22279cef-c9ae-4ccd-b7d5-ec707e6d00e8 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b0c80c14-282a-4b5c-861b-77c23bc9a3c5 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c4331f92-9a24-4eb3-b543-0753c4756928 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7372ed65-5d25-4886-a0a2-af6a4bb110a8 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f2c4cdb0-0457-4386-9bbb-44356e761297 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7f65e4cc-73fc-47ef-b70e-1fd5ceaa7f5f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d32cc1ac-a0fd-40f3-9695-1b75ac17b3f2 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c8c8d226-e68f-4f55-a8e0-2daeebdebdd0 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8378703e-fc69-4772-89d8-6a78dc1606f1 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:653cf1a1-0d34-4de7-95f6-4b1bd769fd63 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ac94341c-93a4-4058-bbb0-8ba7ea52fb5b phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8a5fb4f5-4f1e-4a85-9f92-d36d54639683 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5df6d322-ec96-440c-bfe1-32752c529104 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65b38360-ba01-4cb0-87fb-f138ac55e9ca phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:62aae8a4-b8cc-48ca-a895-404a97ba1ee1 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e487faeb-6def-43a3-bada-e6f29165cc0f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4fdc38e5-7587-4973-8d9e-ca8dfa3ca11a phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5f39d537-b71c-4864-8d56-b58d90b1ca86 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:69869b07-9df0-405f-a302-4d2b3c72be5a phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:40d2b4e8-b232-4b8f-86fd-d33fbee725a2 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5839e69c-b6aa-44ed-a60b-88401d22e2aa phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22608a14-5073-46bf-be41-0cd5e79666ee phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b88f478-1409-4672-a579-5a9b00af58bd phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dd9f08af-a433-4a4c-a908-e4cdcd8866a7 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3770a447-2308-47c3-93eb-6fafdbf1162f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:10d77ed4-dc1c-4b41-a51e-320bd7c375a2 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d6609e45-5608-4e2e-b0aa-8f3250f60821 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bab628c9-6e90-4c34-9bd6-cd5436d0ceaa phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab679d6a-e783-45d4-89ee-570e6f98fd7c phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:33f1e664-1da0-4912-a040-d97c56640bba phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:56d60af4-239c-4aab-b9f7-5f10527bf188 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:02773151-fc48-46c0-bf67-733e2193537d phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2d5c8adc-b583-48ea-a636-d99bce39d681 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ecc0b54c-48f2-441e-bca7-92639c0a40e5 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c455447-ff1d-4871-90dc-767328bf2873 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e2052b4e-a7c5-4dc3-bec1-1aed671aac8e phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b46c96c6-eebe-4633-a740-1cb52e8164a3 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcf78906-296e-48fa-b315-ee4077f0eede phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b23cb284-2c41-4d01-86d9-a5d66564f6ba phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:06c4b762-d648-4151-8716-46cbd5b0ff4f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c46e1c39-39ca-4a80-987a-89ddddbb7aa2 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2cf41886-b523-4ab0-8d6a-6f7772646e42 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c41dd24b-423a-4409-873e-b6aabb4459f6 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c4214e29-41fe-4951-91ba-1e935762f638 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d9d33058-4b28-4a2d-9064-cb7f6623edfd phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0610b79a-e4da-43ac-b2af-a0812e2c10af phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0415b786-2b3c-4ff3-9c7a-ee040aa4b845 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:07f08fa2-d8a8-45a1-b3e1-0bd53499dfaa phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:16abe040-9266-4de0-b284-3a239f8bb0f1 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1f809425-526f-425c-a878-ae51d6261c9f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3bdf9ef8-2d2a-4641-b163-e9e79f1eacd6 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65d4bdef-a5cc-4ef8-aebe-5751df9d3ffb phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3146a7c5-64bd-4590-be15-133eeee16728 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:be4e49a3-3874-44b9-a7c4-d072ea828140 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:db082468-06b9-48c8-9e1d-5c0789d934f8 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3337e95c-9f79-426b-ac5c-00f567e1fb23 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65f69166-533d-419b-92cf-031a0ff8ef15 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59ac2a49-b2e8-4d2d-a70a-81bcf8064e00 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3ff93c77-7f75-4d66-a760-176871810fb4 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f260e6e-6859-4666-a217-39a465e2c6b5 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1512370a-b198-4701-8ee0-86e7ad67c2ee phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f18e7ea6-aaed-40c5-97ab-d335492cdda3 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8b2a445f-6e3a-439f-a7a3-f52ab52b5358 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9391f13e-bc02-49da-aeb6-3d00e6c10be9 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3268f70a-afba-404c-83ee-f32c8a71112e phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c41a98cf-8d66-46d8-83c2-bc903068ee25 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1d150578-e2bf-4698-ad8b-2f1143ad49e8 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:488c1724-1445-4c22-afec-3704d86eabf7 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9ac2b1c5-22c3-41c4-ac02-f392441ae1c9 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b1ca4fa7-dbcd-4a00-9d46-b368373458f2 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b77d11a1-11cc-4701-b540-df2a4174b6b2 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:60d10e61-2615-4532-a2e1-0f8ae4718e23 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ead263e7-fd04-4b86-8e98-c2a534e6f534 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:21df8806-ce85-4b25-bc3a-5ce3f75276c6 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:67537004-0351-4a8d-bd38-2838194c36c8 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:56bc412c-47e0-4b0d-9cd6-81678b71889b phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6051aea-a8dd-47da-8a2e-43d8cfa4bd48 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9a3b1296-a2e2-48e7-827d-4be8066b5832 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:807c87bb-aca0-4ab3-8060-7268bd3d1606 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6d2d88fd-bf3e-4039-bec1-90a5e53d5923 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:27f40b1b-444b-4b3a-858c-20ebb810fff1 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f3527658-9c7a-421d-b5f9-0ad0ec45c889 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1db70417-a410-47fd-8dc9-08f288f55e88 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3a520063-4405-482c-873c-27d42898749c phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4a62c929-e3d7-491c-b63d-3a150edded70 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:136f2d3e-7add-41fc-9cce-c14a0a500855 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aa37b16c-5ab7-47e2-b772-4b2247ed4413 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:44254b25-bdb0-4c6e-8714-a6bb719c2b3f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b40669cd-ad6c-4534-b26c-4b981cb699c6 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:571845aa-4d71-44d1-99c6-6a3340841c57 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2c3db3a-3f83-492d-a131-9c190163e9a1 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9894442-c2d3-4709-9213-64adefe3ce60 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59dfc842-2c12-495d-bc71-0e089542b7fc phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5fee7fe4-c5fd-4844-a9e0-2bdb6ce72a2e phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:272c2de6-e117-4882-b504-1f51c26c1e4e phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:98aea72c-bb7d-4e0c-9012-89be3c8979a6 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b475be3-9d55-4c0d-8a94-b3dff8c05f84 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a03a3b51-a7a1-406a-9efc-f58652ab9bba phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f6ea91d3-9112-4233-9b9c-e3a7fa6ccedc phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a4ac2f8f-97f2-42b2-b8b6-0840bf42da1f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0af283c7-be7e-4599-97e1-7fe30ff341de phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ff14f44-23c7-42e8-8c75-59aed8bc4282 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b9fcbe1e-00f6-41bd-bbcb-87e3814572e7 phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f36cb6db-1eaf-44fd-8eb7-23169581e86f phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:ead2f54c-21fb-41c9-8a3f-8a3fd1779b0c phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:574b7ebc-107b-476b-8da9-7ab7b1361166 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38740982 uuid:13aaa72e-e1df-427a-b97f-bcdcdf4662a6 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:261b2b7f-13c5-49f8-a57a-ca158d0fe5f1 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:0b563c88-6bf6-4df1-9347-cd605fb77025 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:7a96e46c-cd93-43af-8210-1df6bf77ef8e phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:a06bd526-f3e8-47b2-b8b4-283e78cc2144 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:79829847-16c7-4579-a590-4a3e9dfa24b9 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0a9df909-a136-467b-b98c-206b04d925c4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f323daf0-fa4e-45d2-8061-54f10230bcaa phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1e0966c5-13f6-4e87-8c6f-982ba88dbc58 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5bcb9f83-6651-4367-a346-c9f030a32195 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:162fdc80-30e1-4664-b43c-7b79fc1c1a4a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:888a6cec-d5be-49a9-82a5-41f0138f5218 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cfd7609f-b0a5-45e9-94c7-f193e3f66bca phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cab6784a-d641-407b-b80f-6d18b714997a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f05f6ba1-9c4a-4bb4-a64a-954977d7fae6 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5cfb3805-9e47-4eaf-8991-7e806bf616c7 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:05ed9ec9-ac5a-49da-a54d-e3e4a72e826f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:241db038-337d-4ee8-b5ff-4996c6bf8848 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b2a233b5-e195-451e-b9d7-508fb3170814 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2c5d0b91-faeb-464a-9718-3bbdb3adf8f5 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:59cb35da-a75a-4b5d-a486-2f710d342c6c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0698222d-eef2-4077-a278-476c8330d6db phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8933a06c-d58f-48f7-a33e-16c8f95ae649 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4c08b76e-1e62-4f1d-ba40-329e403a0e5f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b7baa1f5-7645-4478-9eec-8c66d10ae412 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:980b24d1-7df8-459a-adf9-a0ce5f6f043c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:597ce5b4-e730-431a-8a57-834c8e3d4d6c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3ca64a3f-51e0-44e4-98b0-96fd2e14543c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fc32aa31-706c-423a-bfa5-18ca6f3b0a35 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:26af3028-4421-41f1-85e9-b898f3ddcaac phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7a941f57-fe42-4e1b-a713-fcb909f57464 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4c01b0fb-c606-4922-a8be-ccdb13f60c21 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:62a6422c-7ef9-4efe-8dbd-f18498c228e7 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e2bbb497-47c9-431e-8499-6dc80bba3467 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f21dbb8e-eb32-4784-be53-6828a30d450a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f86edb30-c6e5-4000-8af3-ee7015ff98b4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:acb1d5f3-4080-480c-a013-053fa6171fd4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:83c49cf6-62cf-42d2-a5b7-7e5404eaf8d9 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b62971b4-634a-4b50-be24-2da3832bf98f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ab92cd40-e92a-40a6-b8e5-b20b109876cb phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:418e3018-40fa-41a8-b8c1-f582a4d77cab phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0dc552ee-6a71-4147-a50f-a8dd2e720ada phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3320cdb5-fd65-43f9-abc7-a22695ab0670 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:35a7e3a6-bfb3-4edc-8d11-7327f4222b66 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9b9d2ecf-c3d2-4481-ab63-e6e13562225f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2a1923e6-2ead-4cde-b34c-f8d5ab95a68f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e2cc56e9-9e3d-43b3-81c4-1936e39dc9e3 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ea2a1d63-3a25-4916-9fc3-58639e875db5 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d4fc40bf-00c6-4301-8374-ec27bba39618 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:08ae82c1-693a-42ca-8e30-42d6e2cd5f89 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bb4cbb76-3cf7-4a4d-8537-4b7e6daa92cf phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:107070e5-0eab-40b8-bb46-64400f72f0bc phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d74fd894-895a-476b-b3f7-51513b9e8405 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d9f033e6-ccf9-42b2-a1c1-fd820f3e1118 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:23d0f7c0-fe9d-469c-8f83-c3f9d2931ce6 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2fa58baa-b261-4b62-826a-74daa667f810 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bdddd2d6-98bb-4bcc-8c9a-72b5404b0ee2 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:943a6fd8-167f-4bcf-bfef-def325c73232 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:937580ed-59f2-4012-9496-78c455d0bfcf phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5b7a9b27-a38c-4fb9-b1cf-8f1a336eea7f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7ec80ebe-6ab5-4b92-831d-e96c9be34c89 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:da34e771-46bb-444f-8711-6567c404f262 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:95c0678c-eb3e-415d-aba2-8bae02327c44 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:58dc3cc9-9424-4c00-b76d-43385b7ac2ef phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:aba05216-96df-48aa-9d08-07e458481bfb phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:01672447-4220-4771-8098-742b1bc7ce8f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c18391cc-0ddb-45e9-a626-47a30f2aa667 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1e1a0a83-ae51-4c6d-9552-e07d415ad5f3 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cdfa11f9-42bb-4d1f-996c-52a425c8498d phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9097e458-025d-4fb1-b628-2b2653f74606 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9630d12c-15ed-42c9-8f55-fbc5c6f12eca phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:31cb93f2-ae49-47a8-a1a6-501b2c00c14f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d768d946-c114-4445-b0ec-a96c6e529fb7 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5b3e9250-0e4c-45cd-9af7-b4f1fd27ae53 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8bb49dcd-c6af-41ab-8a96-1b9844866119 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7983f6af-92d8-4af3-9f94-3e23b404e684 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ba3ac2b0-bf28-49bc-8460-f84726742882 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e8de7b6f-2f81-4ef4-a9a6-f2bf325f5f8a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1ceca9e1-d161-4643-9341-9f556668fa82 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b98ceaf1-29fe-44b6-b164-d385781dfe6a phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1e2573ab-99ec-43b2-9033-13baa8ff031f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1a53f02c-4574-4d89-81d6-fb7dc23ccfe4 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c936237a-b3b5-475d-a651-e951484eb47f phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ee67803f-f928-4127-b347-a56af8029064 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:af4ec7a5-5002-468a-a22a-2317e33f8a2c phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:4e013130-7ab0-48e8-9aad-4a37374e6e94 phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:2c47888e-bc75-4eb2-83a7-d630d4f29402 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ea329a4d-a8ed-4dd0-97ff-298e95ce95ba phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1242c6b6-ce41-472f-9090-9d7aae52b7ef phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7046be83-516d-4aa3-ae8b-40cfabef3c3e phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b29a92d9-e164-421b-9101-2cd55382a0ce phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:9fc39618-90c7-4974-8b65-eafc391a6029 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:df1c327a-57b2-4cae-9b4d-e9ba56e1302d phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:84fb7fc7-d372-4b09-9530-b50b69891eb1 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5c62c717-bb2e-4600-be3f-ecdd23388bc0 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:6478c2f6-084f-4a15-97b1-0c34a8629b93 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7f149e7e-9c5c-4857-8cb0-84057c7706bf phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:76320bbe-b080-4f25-b2c4-3dcb1afd53d5 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a8554d0e-976d-424c-8c0f-55e39898fe86 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:0d7b1665-1359-40b6-9e4d-603eb4a8fcc0 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:78bc8867-ac4a-4356-a47c-311f6f1e7822 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1e0225d2-2066-45c2-94e3-a7da86ac6af2 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:92988fbd-8e4d-45ed-a45f-ebba44c66714 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:07522d5a-2e78-474f-8f8e-d7b35bc38b9d phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:206e26ad-7493-4201-867f-af050227f556 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9ac6d73b-006a-4cca-abae-8596a97c4579 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:98936b8b-0a3c-4944-abc2-3711131d1b88 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:58a3302c-a125-4495-8251-b87e69c2c11d phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5b2a3204-f539-464a-af6b-337fbd169fd6 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:84e04935-63be-4d21-ba30-cc1122718594 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f6258b1c-6171-454e-8b86-6efdd0559ffe phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3bf199eb-8f88-4858-927c-ddf974424d08 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2df4d2b1-e6d0-4284-a41d-5a55fbee07ed phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c7698711-1fba-42e7-8965-4749b66be03c phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:32b5068b-8205-442f-a8ea-1f61c9a2b75c phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7898abfd-060e-484b-8950-e3974c3d0fa9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2d1ea2ef-fa18-421a-b781-a1079a0b0a30 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:411b18c6-c048-4830-b12e-e298c1ea4382 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dc76c01f-085b-4aa0-ba0c-27c894bce4c2 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c1957f70-558b-4c69-9413-09944240af58 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dcaa3051-44c8-41bc-959c-2b67958b112c phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f3d8de8c-f333-4449-a859-882dba6658b1 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f538c3e5-1734-4043-aa5f-2e8fecd858cc phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e919e420-02d1-491a-b8eb-9c152eb111f4 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0f51e701-e7ec-4816-b40f-0320f8a9830b phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:08746b8e-31ef-4c1a-99e4-acb6788bb581 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fb936097-c71c-41bf-9e53-47224f0e5684 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ed6d7e04-c311-442a-a472-db3f69dd8edc phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c8605c67-2394-4a3d-a3ce-cd71f7f06aef phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b3eae65f-a741-40f1-98f9-335e16c5e747 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f9b85b4d-c4a4-490d-93a0-6ad6a857f00d phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5084b0eb-0534-4a0a-b3d9-c729ab0e20c5 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d335a6c0-a8b1-4ab1-b262-7dcff4c16da8 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ff497334-68bf-4566-8f7d-493366f70eab phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:edcda86c-f460-43a7-9114-80ba7e97386f phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f25a735a-5c6f-42e7-a622-ea1d8f451d9d phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ca538c7d-b965-4a92-b4c5-a8344effaa3a phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7e5353dd-7dc0-4b5b-be29-cdc2371826cc phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7f944074-c960-410c-8d3d-0b195b3e5cc9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:57246e08-fb1c-4a8b-8bd0-acd1528c6c14 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6d972dd4-6249-46bc-931e-2dd3a11e4eba phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:29b13b55-b677-4597-bd4d-1c7c372ec66c phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:402cd6c0-e5cf-4a49-980c-f097a0a957cc phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fe1753bc-5fc2-4bc1-bccf-47b6f2df2e58 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5c1dfcf0-f2fc-4868-bb67-cdb8387a96de phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:092d2a27-7704-44ec-8c93-f70eeb5d20d9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ba5a3818-1bba-4968-8688-d0f4dab0bb0f phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ff76c2a4-e091-4183-a131-156c5b17aa11 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9d7fd1df-ab6b-4a82-995c-0d4db7cb248e phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8151ad88-0e53-45e3-bf4c-d93189f3933b phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:117e77fe-7ab9-4c30-a196-77fab321ac30 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a4226456-7427-4840-9e42-90759cba66c5 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8807bf25-e953-4052-9f1d-5db56dfdc10a phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:74de8194-7e44-4831-9da5-a673a3b1d452 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d19f3d18-9f37-447b-9a2d-9835d58d7a9b phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4617a6cf-5b0e-45c3-a0b0-a4ac7fae6684 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b5ec3288-e65e-4a84-94aa-afe959d30670 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:491171da-ac50-4e6d-bbf1-21b71cd34fe0 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a617f622-7c55-46b1-a1a4-e90ad401b6e9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7d8cbb36-fd5f-4011-a928-4742800ede44 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4040ca04-9904-4651-b49a-d3a2f5eb19dc phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2e72cc6-bd4f-4030-bee9-8688c0e970a9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ff441b48-b98e-49d6-84cc-e5ff23d69c4f phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0c49cc1b-3038-419f-9aff-3a6a1ba29db4 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2673ee56-c957-4f00-9576-98147238887c phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b29dfc2-c0d7-48a7-8430-c7045c0cb5b2 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:471abbba-8f32-46c4-925a-7eff2c870e14 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c72ddb4-9b6b-4f1f-becb-9bcc92e8dfa1 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:999e3e0a-0f16-42f3-8a21-2275e5457e08 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6606b580-026b-46d1-8e1f-7c44ea689b12 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:33b80498-cd1d-4474-8d29-1cdb33eb376f phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1ee9b518-2075-4684-9c69-60972adb7327 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c264ea49-66eb-41c3-a869-846d921b6162 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:edb1aab0-242b-41cd-8e28-5bd5cacc5261 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cac67c24-72b5-4e9d-b422-d4927b09cfaf phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6866670e-5e51-4dba-8988-e5387099aa71 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a3558897-a96f-425e-82a6-bf0578e569c9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:70407753-1e07-4b1b-949e-1cb2cf1a9c57 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:428891f7-957e-4c32-9e5d-1fc60d48e324 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22f4e9bb-5eac-41bd-bf6b-7b472249c800 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5e2afa2a-443b-4d5f-8b50-3bad9f5c8336 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ad2f0d39-36c7-42de-8e6e-235d4718b483 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59fc8c12-09b0-435e-a4ff-9e71f91a1604 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:af561420-3722-4729-8c85-31114320e3c9 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dce1c6d7-6d6d-4c8d-b7f3-3e1a3f49db0e phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e7960ab0-57f1-479e-9ccd-0441051b39ae phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c48f61a5-435e-4a36-9553-155b6b01120e phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5eec776a-28ef-4890-9f4e-90bb1e275359 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f2a577b-c288-472a-9a09-f588c567ea04 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dfdffc6d-f850-48b1-b108-7e3d79da3094 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:f83912a8-4e1e-43f3-8a4a-105caaa1fe02 phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:17e8773e-73d0-40b1-a97e-520d5b2130a0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:1649874e-792e-490e-afa9-1122b086577a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:19c2eb83-15b4-4711-b8a9-a01470699195 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:170e95dc-bf0f-4310-9861-d39966aab04f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:82cf0cc8-339f-407c-b2ab-6f5907e75d97 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ad42a43c-38be-4b4a-87c4-04dd7809732d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:00e224c0-2378-46a6-b506-3af7d9590293 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1b8542cb-40ae-4231-b960-c3f9e3e40f4a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3512e899-8c57-4c07-9d94-47a9a78d7d29 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bac886ea-2a94-4a91-8d63-72e62d6a3ef2 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:65772ef3-577b-4226-a601-372943ae568a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5ded5605-938b-44eb-b74e-2f7c15ab17cb phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d0409d4d-4bd1-4f5d-800c-cfb1c9a79762 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1af5a2dc-945c-48fd-9847-c9a5ded53806 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:79469700-1402-44c7-a577-4d4b80df0218 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c7f22148-f47a-4d49-9719-072f3da9d826 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:be72ae60-69e8-4dfb-b3c6-acd2ecbde617 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:356a8e79-327d-42b5-b0b0-fb98a41a00df phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b2ab1b1d-2f8f-48d6-9456-3d9d8357190d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:01046250-b04b-4502-bdbf-1a790eaab642 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0684e5e5-8f86-4cff-9fc7-2bcc9aa1484a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3b7b5175-2a92-4efa-a2c8-26bb8837b1a0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2aa46d07-5594-4035-9c69-b11e0db969d9 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:91831879-b3b8-4ef3-a1da-a12bdebcb37f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4e0d08f7-1f96-47ea-b34f-f0069c3a33ac phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2f5ae572-da9d-460d-99a5-543a25675f37 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e803a10b-4083-4101-89b4-bfb199779af7 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:787251e5-407a-4611-96c9-b4573cd6fc35 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a857e640-7fc1-46d0-95c7-ce1b4aba72ed phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e444d78e-9975-4a18-92a7-6754fa1ee852 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:871cff79-41bd-41da-85d4-92e5db5072d7 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e502621c-cf04-4c79-b5d6-ae99b85475f5 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:47f70b73-a53e-4547-8183-5a647634e12f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4a0757db-aea6-4a46-ac29-b0334541a41a phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b13a3804-b10d-4bb0-86ef-b9a7c6043068 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:345ca3f5-3742-4111-8529-292fce94b1b3 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:60e8b6ec-d634-4c1a-a7b1-ab869133b835 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:45e324db-eee9-4a0e-b319-7763b6eb2bbf phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:36cfb9fc-4cac-4e1f-b8f0-ab4f51001094 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3255e1e4-a449-4d3a-911c-9b0786c23840 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:47eea67d-8733-4585-ace1-82212ed77ede phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:67646180-bff3-4974-9caa-fecd36f60c31 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a69ee73f-fc09-469c-878d-b8f8f88db48f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1b921b6e-60f1-4086-9d93-d7b82fbdea51 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e3aefa07-64ca-44d0-80fc-d1857aa25556 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:73f01d9e-a4d2-45bc-affc-24343604c160 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ae30d8c7-b941-49c0-a9cd-59030cdf5125 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3121f4e6-349e-4f2e-83cd-af768860f5a0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8b35b6ae-7ab5-465f-865a-5b17eea9ed8e phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0d951874-1b30-473b-978f-ee4540eba5aa phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d2c27776-51bb-453b-9ca4-967f2c17d03d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:329d8ff6-2ac8-49c5-a08c-2a2a795e20fb phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:13239a4e-c225-40ef-9c43-d4a3f1cbfe98 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6149837a-28e4-4586-a580-5e4a40ccf0ad phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6705f0c0-4c7a-464e-b813-ee28fae7e67d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c8617d03-6fb2-45cc-a37d-0ba868fb4769 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c504bdbb-6ee7-428e-90bb-ad2b2ae480a4 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:21fbd21f-02c3-4f97-9c49-f9492ebab1f1 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0752bb45-bd58-4061-b1dd-71c55471b72f phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:06e7c9f8-31f1-47d1-a6f1-912aa7ff93dd phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9d047aac-3c44-432a-b454-238d0e993d0c phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8d370ac9-c04e-4447-af73-f55208c574ad phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6ea33ffc-c9e1-4b3a-8d81-7337cf1d1055 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:40c6b146-c6da-4620-92f8-2031ef642b27 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b3f65ba7-6ff0-4be4-9445-f1097913ae0e phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:edd5287a-b19b-4706-afd8-2f7225ecbd6b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:46d0c497-33b8-4864-a6ca-c1645c986713 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:239797a0-a677-4834-aae5-e4593dc18f72 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:30073634-4f67-48b1-9081-2ede901a1fc0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:00aaa4a3-0cb2-4ba9-bc76-84ca17aed3ad phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:17a2e935-df05-406d-b700-6d1970611299 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e45692db-4688-40ec-99b2-3e761b3eaa4b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f72dffa4-12fa-4235-90f3-56686afb0c08 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ea78d55c-2f27-443a-877e-0f291d3c0e15 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2bffbeb2-9635-47fa-9678-e2e1bcdc63cb phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:83633808-c47d-4b93-bac9-79c4250ad73b phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b8c95f12-d9af-41e1-a63e-813dd10f27cf phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9a1226e2-032d-4b31-a6cd-1dd34f55e7a2 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6302d16f-c4ca-4864-bca2-44256b28431d phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:28879f9e-ab93-43e5-97ce-6ff6f43ef004 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4fda2cda-d8d1-4745-a702-0cb5c8cd22b8 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6ac77124-185f-4eb9-bbf2-38d442a0fe24 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b2a0572b-d9f7-4aba-be67-f6b72fbe2065 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4e3f4c3b-90fc-408b-8244-5a3b3d66d3a0 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:33fd9fac-ae30-4845-bc73-16d5162c6667 phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:23b115d3-1a19-4e7d-a320-9c0d0c3899ad phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:5f39a643-52db-413b-910c-8337ceea498e phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:7873d1c4-fea3-4c1f-9dac-47cd782c83d4 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2cdc21d1-95aa-4ad6-b502-bff3a714871e phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:94eb1894-5fcc-4de5-8307-9c3e6e750314 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:58a329d4-3494-4c14-b3ce-20f139fd5a19 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:859a5a30-262c-40cf-bd3d-41a6beaf8687 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:97cfd24a-eb29-40c3-9c4c-dd2b9ec60232 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c1f60c47-bbe3-42bf-8d10-ab76320341f8 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:7f054eb0-beaf-47ad-8e79-557ac8e8f70c phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:977a66ed-51f8-4299-8361-37109b5862e7 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e186bdff-24d2-44b4-b3ba-3e404f0309c3 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:da116890-0954-486b-b078-b7418dc7e1a2 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b87ec327-3f6a-495f-a78f-4c4328fc6d83 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:298f5402-39b6-4c66-9e1b-11082c0815bd phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d45afbff-7f2f-442d-bddd-af4421ddf00a phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e64394a8-8e11-4f60-a49c-ec70dd1cfdae phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:39cbf48c-248e-476f-9314-144c2093f561 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:23f6d335-4fc8-4181-a088-f48d9dd9a75b phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42a91889-e38a-4e68-82cb-aead9b61a3ee phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:920ac7d4-768a-408e-8971-4a150269686e phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f66399ef-e781-40e2-a798-14f36f2f4080 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0d581f58-53a3-4c24-b81f-3c72c6b77b3b phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:141d61e4-0b82-43d7-ad56-63f413c1e1ef phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:626a7883-aa8a-4e57-ae58-f39a4d78460a phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:79db2a21-6c44-4af3-acf7-7e0ba8802c50 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dccde922-7f94-42f0-ba1c-392b685c424c phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:253d3636-ae9b-44ca-b365-53b99c971343 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36a9adff-374f-4961-84cc-54ab737a96ae phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:312e6df9-b833-48ea-890e-a798be32fbeb phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8fe9f1bb-6ec6-4b4b-886c-32ef339d6665 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:724e5c77-0527-44e5-88cd-3ad26e13287f phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b862376-0230-4131-bf0b-48842dfe889d phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:55e9cc78-b8f2-4905-b0a1-71df39079e25 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:703d7c15-679a-4867-8170-305e9a9ff7dd phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:529d3166-774a-4e4e-a860-117bbae3add1 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b6a16fc4-e759-4c48-b258-97727237f53a phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d74f3773-4085-46f7-b404-1432e5b1d4c3 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab8dfeb4-43da-4cf4-9d69-2e6b4ab2331f phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b66bc5c0-60d9-4d9d-b267-6d20b2c0d372 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cdf5c974-7d98-4b07-bf6a-e46a877aff5a phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:10b5e420-1346-4bae-8784-3876a6f41de2 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:220a0547-2a2d-4b2b-a086-0817b0ea949b phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6020f682-c2db-4241-9701-9ad49bdbd8f3 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2205c86e-5bd6-4ede-8ffc-abdbf636f003 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dbd88de4-4ec4-49bb-a4be-c2013564c7ba phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:daad582f-ae6b-4e25-8f96-3f2334ca363c phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1884711d-cb7b-4618-8cc6-7c28c7cb157a phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c4393ffd-1102-4b78-8ced-cd67c6268df1 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0e182539-d0d3-419d-af3d-2da4044eaf15 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42d7b524-2160-44a8-90b3-8a99482da237 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:086a100a-0310-4386-885b-602e630e1bb6 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4fb2253f-7412-4ccb-b284-762ccc64d10f phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:baf5393c-98e8-40f5-bfea-e8a986c5ad41 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6cbe0331-ab27-4f07-a63f-d576ff25f025 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:558f67eb-dc75-4ca8-b4e3-884058b0201b phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e669fc85-59d2-47f5-b560-d7366e940cb6 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9bafdd5b-0241-4867-8cf1-28817ffaa0d5 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4559bff4-02d8-4f1b-8c5b-3c75067e5081 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a4a0a104-8def-4bea-a0cf-22a51cb4cdea phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ae248dc9-cd37-4e65-909f-d68b77a8ccc9 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1122a15c-da11-4af8-9beb-fcbf0de37d77 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:809cac56-e994-42da-a329-0528997f23b0 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:88add940-af26-47f9-b811-01cd59f6b45e phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:501abc25-a9c8-4f71-9fda-cbde346723ea phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7aa1dc4b-d75c-492f-a0b8-5139ae50018a phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:56022e46-cfa2-47f9-8768-12103d6ce472 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:815e7add-a9aa-4aed-aa53-6f77cb5b200f phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e22bc848-86d3-45ce-b63e-ef41e0e485a5 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f14445b5-e595-4c44-825a-b6b5d60f44dd phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a738b5a-69c6-4187-a255-16c6222de900 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2344bb0b-1fa3-43ca-a3d9-5f74e18d9a09 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:43760b2a-b7fe-4de3-923e-978c3e8a7af9 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3bf432da-832b-4e6d-8346-64ebf238d4c6 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0465337e-a3f7-4378-9660-c83142dd4ba4 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2bd46fb9-860e-4109-b6af-824b64d48ebf phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:92f55bdd-4bf5-49a3-b634-8d4b917719b5 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b20f65b5-d19e-4cee-a65c-b22ae84c2397 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:edd83adc-ed72-494e-83ae-43a8b994ed0b phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c60b2f9a-2679-4d99-92d9-ec906aa73bc0 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcc56a9f-65c7-4654-903a-b2badcd1f2f5 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:88cdb2f0-b7a0-4a37-9a90-977c76e58f08 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a32f3388-016e-405d-96a4-c7b734134196 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:41ede190-b5a5-4885-b2cb-5ec326c37292 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8fd7a362-0f5c-4e80-bdfd-a86d7eb8037e phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1634c4b5-0558-46c5-ba55-23258516e4de phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:065ee6e1-1b3c-4938-aa77-79970d84ab2f phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:424940e4-44df-4837-bfc7-69a370a689e1 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:64b5e646-e569-4067-8397-64012f4107b3 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:433dc1d1-3df8-4e94-bd54-a6d1a341a0d8 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fc98561c-e383-40f1-90d6-d2ffbf8f8481 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75cb955e-ac3b-4ae2-9c85-8500d3b6e418 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:313abd2f-465d-4edc-b45a-af6f335621dc phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:08ae0acb-5f02-401a-a734-267117fd6821 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b0f80a54-1677-4e36-920a-110e0f4b9ddc phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1d3c0e08-aede-41ab-9642-b014471576c6 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:49175de1-c46e-42dc-a5b7-0a0ca33ce83f phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eddb5486-1cfd-4307-b185-bcb051c51543 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b23de52d-1b05-4141-a3d4-1c460b0ed1cd phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3b595436-c9b3-4b91-9258-2beae76295c5 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c483ce7-b594-4741-a26d-a7562f822715 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8afa7001-934d-4aca-8da3-2c1acf15fab0 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2ca8ec8c-0cd4-4406-94d7-4b954a86cd2b phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4bf8d959-2426-43c6-97f4-777186659fce phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:00b65dcc-5da8-4f6d-97e8-bd2ad65f4d69 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:83960fba-ab8a-4b3a-9639-b0c29fb81ef0 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:605eb9ba-087c-44d4-bfdb-ca9501233872 phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:5415d89f-dad9-4b64-8b31-d463f63425c1 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:51928596-a42b-4f97-93c8-bd99c71fd23e phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:646f1bcb-2deb-4b7b-9ab9-2485a50c953e phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:a02f1f2f-9dc0-42f5-9cbb-6d151862f004 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cc81e878-ce3c-41d4-9751-f1c63e7e10a6 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b505bbd1-8ebf-466c-af25-0ea03588ee4b phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:f9933f65-f029-47d4-a3df-63908e46fd01 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ba0590e6-327e-47f5-99d9-d8149824f79c phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:039b395e-22ee-4fe2-ab1a-e1ebd58d00ab phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:61c6c923-7466-416a-99cc-d5d5367416c9 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:c10f3206-166c-46e0-a3aa-51ccbb382926 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:450dcf4a-29a1-4936-914a-1dfd1235f00e phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ef0d1f96-ffd9-4e32-ab4d-e91dd632b83a phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:47e463a2-5e17-45b1-9980-737e08e05a1b phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5164ef68-c08d-4636-9ce0-96425d8034d9 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cb5eed96-5282-4e23-9d62-0dca7e4b829c phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:a84339d6-4586-4a35-a6f5-06bc647c40cd phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:7aa76e66-4d19-4ab8-8fd5-593e03de7b92 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:707cab73-4d83-4ef8-95b9-37ec117d57a9 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:0077cbf5-ded0-4568-9817-c911517859ac phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fe8f2a98-45a3-4486-9209-8335c1e2e237 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0582dbe7-5965-46fd-83dd-c3135a246823 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a6f6841f-14a3-4864-b1f2-693ddcefe87c phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:91476dd3-9933-40b9-a7c1-cf80e71506de phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:709af1b7-b68a-44e9-a7ba-723887576512 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:498f0474-fe3f-4fe0-8523-0de8d32a952a phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7865ce49-a6b2-4fd9-b70e-22df2300b670 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c2f0d5a2-5419-49c2-a67b-590101c46f57 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b5d0b803-77a3-4c70-861a-891d824a54dc phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:efd919f1-acd1-497b-a3e3-091ecde7cb86 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c77bad72-f666-4b06-8f89-423a06b4149f phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:37698032-7c3c-415d-83a0-be8e15e5418b phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1fd68e5a-9163-44fa-af1f-9a6065643d1b phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9469a753-1b88-4e44-89db-385a552c05a1 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:95c89ac0-a97f-4c85-b74b-d759763cc7fc phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c50985b5-7c78-4087-b36f-ab8a43ea886c phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6e212105-e954-42d0-96fc-25fabf61b839 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3b7b7889-6d6b-4fa7-adf0-a1ea070b1a72 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9c57a776-b3f5-480e-be5e-b30b12f93aea phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:523eb57f-3d42-4334-ae41-27d322a8144c phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7277ab62-dfd1-43b0-b685-d22027f6cec6 phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:0332ac20-8ba3-4e7d-9f7c-7569324dea9d phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:0c40ee1d-b9a5-4074-94cd-480e528c5e43 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:3f6f0f98-c103-4db3-b269-5c67e3a45894 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:8292c5ec-f93f-41d6-8a19-1bd4cd4b9254 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:63f816c8-55c6-447e-8702-8145ddb29e3b phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:dea6902e-048b-4489-9034-6f1a9c9baf3f phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:430e90bd-74ed-4156-85c4-15e800c054e1 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ada99cb9-fe3b-4880-b7fc-5343f3c43388 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:75a0f6f8-f39e-4aeb-b34b-e0b96eb2ab6a phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a932fad6-5d7d-492b-97c6-02c92a066f64 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ad956d33-e2ea-458c-a5ad-933f45d4a69b phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8fd3499f-7b0c-4e8d-be4e-f62c8638831b phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:775737c9-e93b-4173-b70d-15031709b973 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2f1dfe26-64b4-4137-9e6e-235959f42c03 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:50015d94-ba7c-4c22-b7c1-0c7d7db2e3ee phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bb0e0b59-bd03-43d2-972c-184cc264849f phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8f7184eb-6a11-4524-b797-6a6dc925b006 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8e133707-3cdd-4366-8be4-1fe8a0c1b2be phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5f0dee3d-8562-4b58-a0f7-d6700211db77 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8fd1318e-ad07-422b-a325-e65018980abf phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1e88b826-e248-4c04-bf2b-0b8126866413 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:94f0f188-8886-4503-aea9-7a62f3ed6545 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9b937d04-7508-4ba8-9673-f091d8863442 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:25635749-e9a7-439f-87d1-828d654550b1 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b8e0659d-7083-4b88-b734-3eb5d212723f phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:553a810a-6344-416d-92df-0206fae8f3ca phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b3581771-6ef8-40c4-b372-fc24b1deb8cd phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2810e94f-2f53-4ba7-8673-16308b0b59fe phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0cf37beb-1c9b-497c-b413-74ca8e2fd5fb phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:87242e36-a91d-452c-859d-6c8dda9693aa phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:834694f0-d20d-4668-bba9-e1ecd7f9ee86 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c0608743-616e-4d4f-bfc5-994ee8926f3b phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e4118625-eca6-41ea-b82d-2baabe62ae23 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:60f788a0-78b3-42d7-b413-8206e9b54d2f phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4d753efd-ce7e-4a98-b33d-6f483a8da09a phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c8255167-b54c-4336-b81c-16fc7ff450a2 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1bb7b6a0-be92-4054-8658-a44c43ab9343 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:56eb2346-f844-4827-9c2e-2d02adc00392 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8e50aef2-cd4f-4a45-bd62-f9fb86444bd5 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:964440a8-600c-4c9e-a926-120d6796bcc4 phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b3cbd52e-5694-4f5c-b695-6b639508573c phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:2ba335be-eaca-4e09-bc2f-4e38a7f2385b phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:959c029d-a2eb-4efe-b497-8409827efeac phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:2f495c96-f1ac-4e48-a3aa-ca2910adacfd phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:286e84d1-9cd6-4e30-97d8-0e1a040ce702 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:9b56ec8e-c264-4603-81a9-bc734ca9c3ce phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:c92d765d-b228-4a5d-b328-ff961b243bfc phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:976cdaf6-bee0-487c-9392-ae82ef7f6ef3 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:d294cb40-2e16-444b-ba08-fed853243bb8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:08ed1ef4-8d82-4ae4-aa22-a46600ed5297 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e32043e6-7753-4039-9538-9f23dd430131 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5b1a408d-a7cf-423b-b36c-d8f59e7c3674 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5f1d06fd-f716-4297-90c0-b92b3adc2391 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:acada477-556c-4e77-af86-6685fa04bb84 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a7dd6c82-9efa-4967-8d97-462f163149d2 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:444bd351-a283-41a6-b136-9941db0bcaf7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8b6ef7a1-ffe8-4c07-8e85-b30462660ed9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8f2c9c29-cdd5-42cb-8770-0dc08bb70145 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1906fd76-6c89-4b90-b373-642509fff7e5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:76aeeb60-ac9c-4d07-935d-a82450957f91 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d94c15c5-0ed4-4234-ab96-db48a5c3baa8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:239cb5cc-578a-432e-ac16-273eb20e0584 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0a4861ff-abe7-49ec-86fb-3bf062c12911 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d75561b6-6e46-4fae-81c5-a13595203510 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:34ec71ec-c26e-4bdf-89c8-8314d573160e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1dc4d903-fa61-45a1-9236-16a5779a9ff8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:02a47c88-77e5-4387-8f74-91c466a6fbb2 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:88bff259-6559-412b-9923-cfbae83d0837 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b99644dc-5362-4597-975e-ad68e84ff762 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:edbf797e-562a-480b-9f4b-099e9b813e94 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b8871ad5-0acf-447e-a455-8ddbc3b02fae phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:54f6bb4b-5fa4-46cb-80c8-1aeb04925211 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3cbd5ba1-a285-4708-91e0-790125cffa65 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6a3c2b9b-bd51-4c5c-8b84-fb38148f1e1d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b1603e22-68f4-4999-a7a9-e05bc45f653a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:207976ff-dd83-4c66-8c89-a1f7ed8c850b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9bc1eeee-edc1-4a34-bfc2-0515987c7350 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:18b68b16-05b0-4f5a-95d2-4008284a31f7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a0f45e16-a887-4914-953c-c3740eadd627 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c37c7b68-09f4-44e3-957d-41365faf9593 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:65f31fe9-fd01-4a62-b95f-85c7b00cf339 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2cd3b61a-c400-4a94-9eaf-bbd537592cd4 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:279b955b-7c2a-46a3-9a6d-131205999cb4 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ddf585a5-f971-483a-89ef-7d67ef4f5e09 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ef788adc-06ed-4579-8819-fb92b2901660 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:374b20ad-6c06-4ac1-8f10-c24a338ca914 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4d2cc71e-1425-414c-8855-3a1e8b16825c phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0b07885c-1bc0-4c18-98b6-02549061032d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fa1170c9-08ee-47fe-9c72-603e854a6617 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5f44853c-aec3-4886-b3b9-e2254029f2a7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:96c2a15e-1251-40db-b248-9f6ed873e010 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fb817975-f670-4663-bf90-65354d0a1208 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:828bd232-ac30-4762-a8ee-24d21a82b0bd phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a0482ba4-d9b2-4151-a35d-ec318b3b19aa phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d8ea7546-64e4-4d3e-9183-deb353c3babf phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2f7f36a4-d09c-449e-a395-968df1f35a43 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f2088a6d-526a-47ae-a9ea-d8f96bbef17e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0c1820ac-f583-433c-876d-30f2bcc6ec80 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c61ea867-cd05-4acd-835f-44b4983e7911 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c9d3b710-fb10-4e9f-95c1-aea398a8ebff phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:26944f1f-1774-4e3a-b8d1-d5661da608e5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:86e13856-c593-49a2-9204-f75c4ff3f91a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8f870102-17ca-4c17-a3e8-ba79ce23faaa phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:438382ab-0257-499d-a176-7d88e838820f phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:26866e15-b924-4fcc-aa32-60dd52a62a1d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5c69eeb7-799d-4a00-8147-c7c0b5b4ad7b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5523388a-c89b-404e-aae9-3b887fed82c5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:39a8d537-8305-4252-bf01-661eedfaaad7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:caacc4d4-b08d-4ce6-885f-4801854a66ce phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9a321d53-99c4-44c1-a739-85e111854bae phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:869dd39a-990f-4196-8d64-2722ff2af270 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5d5e3b59-a66b-43db-b9c7-5b50dca6abae phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a0d6c3eb-1c62-4f91-b91e-cc8666383f73 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c83cc694-36ae-4ba5-ac76-893aceca2a66 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1d5640f5-659c-445d-a4da-95f2b335a1d9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:103676dc-1c11-446e-9192-bfbcc7e9208d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:44d72032-f734-41b1-a362-1854d7ffde9b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1766dd81-d0b1-442c-870a-788d0e0eb7a0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1ad5bb1f-1c92-453d-99db-759a24a5aa45 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4cb22ee7-3b7c-4dc0-98c6-3db2aed8b810 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ce762a33-746b-404a-9e37-3f988c2519ca phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:da590452-c6fc-4f11-b0ef-bc21e8f67fbc phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3c64a439-7100-45bb-9eb3-206a6fc44993 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:209e3d05-dcd7-4831-959c-8224ace36c54 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ffa3e432-5e36-4189-80f4-c8da5c68dbe7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:252fc41c-ee8b-4ab8-9226-0033d90ff23b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9984a3fe-5e66-412f-b04d-3ea187b7d79d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1bf43c50-3e46-4802-b463-94a68fc3719b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:16a83fa1-f16b-447f-b27f-0d40dbc9d3f1 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:55b2e1fb-cd69-4bd6-b39b-9e5dce7c5e92 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:d4c573b5-9a4f-4d1f-8a2c-1fce0697c212 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:417a74a3-d793-48b7-b729-94b0523388e9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:a207cde4-7364-490f-b7a9-59389753a06b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:3030d9cf-f503-49cf-bb76-9a9694bb98fc phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:aaa2ec5c-e51f-42f2-8ed5-d077c025f15c phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:7706a95b-7a3e-43ce-8695-74b1712ba376 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:83e607e3-0c65-485a-b714-444d6ce404ff phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a8152f52-55c5-488a-a3b3-94df67029da2 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5145f99d-c74b-451f-94ac-f96d138a305e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fec36242-352c-408c-ab90-62b3119b1072 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4655b562-3292-4499-b651-3ff646ce894a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e7135802-ee32-4425-8945-536f61128b73 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:38bbec25-609c-4ffe-9bc8-9d9c5a24b759 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0d905243-c77f-4b32-929e-0108aaefd9c6 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:93b8ac73-fa3f-4981-8e3c-33c9e06534b7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:39e03560-b48a-40ce-9cb9-956cb1bc0938 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e014f753-9f7f-4658-9f9e-77102a0b3153 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:12308f53-4196-4f66-936a-13b512ed1568 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:943cdc5d-58c5-4c20-b6e5-90cf94418c6e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:917521d7-3d1a-422c-9f12-e81921568779 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:642180a6-512e-4cc4-8d01-098388dd53ea phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3989bfdc-ef8d-4833-88a8-70aadfb41d82 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:91287682-0b28-413a-9b18-a28b16faea71 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:183eb615-6c08-4c5e-9e53-e25e803c2d8b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:95ae1593-959c-47e6-9267-9535346430db phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0f1de8ce-da2d-4ecc-acc2-e8d240dbfa54 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1e6cddef-88b2-44f6-85e6-fffa8e02ddc0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bb62345c-c4e2-468a-afd7-d856995e4944 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:42ffb298-fd23-4bc0-9eb4-57e4d697d7b9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:95a4dbf6-4ba2-4e29-8fde-786c98760762 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:12dbf13a-570d-4077-9e25-c62c06475aee phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d0a911f3-f864-4c0b-aac0-827be738475e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c37b99f1-3d05-4c3e-b79a-71b3f96231d7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:12702c23-7ccf-4557-b38e-df5a1731cb4c phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cbf9980b-89b8-415d-97ce-9255057062f7 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7bbdc426-92ff-4c09-b58a-a892f5c31c8a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d3df1609-3120-4eef-845a-0b66b27fe3a1 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e569c92b-a5d4-4bc0-befc-4c0fc5e860e0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8252f788-14d2-45f4-bb9b-c620c60e7449 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d0bac3e6-bf4f-4048-a3c5-6aa942d3334e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8b8682e2-52d7-4d8d-a075-e381575d0cc0 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:67e769ec-0c8c-454b-a616-8c209770e7c6 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ddcd2e27-93c0-44fa-acb7-c21cadea44b6 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b2570f27-d142-4481-8ca5-dd1f2de02748 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9db5eb03-5af5-403e-8aef-72dcb2e33ddc phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7f233cc9-0057-4475-82e4-7e958fc44993 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8546d9e8-d46a-4a89-96d3-90f3c31255d4 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8a0db0e1-5042-4fb3-ab41-810148c5fda9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6be32a76-a4f6-464d-be77-74ed6fa82133 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cfee2d19-3a1e-4e15-939d-87ed4db4e5e3 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:daf7253b-1c13-45fd-bfb3-e066d85ce55e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4aeeeb4e-31cd-4ffc-ac98-980bfa7884d6 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:94e23cac-71cb-4be0-a452-15345a63fc42 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ff5d6aa6-164e-4a8b-966a-071cd79a10f8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e093fae4-577c-43fa-83dd-4263e612d349 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:257fbf08-3c60-4d25-99d9-19ee07f4cbe9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6eb1b730-b1d3-4f8c-9f7e-dc55cc48169d phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:84d42a41-9f73-48b7-b51b-cce6aa11eafe phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:61e4aed9-2f9a-4bf6-8535-7a3e14e7e3ef phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:687872a8-1ed7-4dc8-bfc9-ee99dd587942 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fc247b98-fe35-4fed-90e2-dc898c258aac phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:598c3741-0ec9-4b0f-afcc-2c2e54c95971 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e9c828fa-308c-4b3e-bf2c-aa1433524e60 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1788bdb4-37d4-4f4d-bdd3-8959ac5e6a63 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:786c04a4-89a6-43fb-b4f6-33b0b632dede phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b0dec20e-fc77-4af5-a608-4d42ea90ff4e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0637e9a1-fe8d-40b3-b051-ac7173e31982 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dfd07308-9066-4ab4-8ae8-125242e3bcad phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:508c0ee0-ebd6-4e74-8fe1-14d6cde13b86 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ca79fd7d-abbf-41f9-bc14-e343f2b289cb phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:13615d0d-4f4f-41bc-9643-141235c920bc phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0b599c58-9df8-440d-8abf-044770ae656a phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:41e769b0-4415-47fe-89ca-bfed9d83122b phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:12cc3dbc-31fc-45af-936c-712d706cb153 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c93849c1-dfef-4947-b8fb-3765d701c886 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:77955c7e-e163-4d1c-98a7-24abbd842cf9 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c82ac9d3-7fa3-4e6d-90b9-6b911f89ab27 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4590fca4-7ff7-4400-9aec-cc48ff39074e phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bc96b0b1-4778-4cc5-a604-0faaa86e21fe phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2559ef9f-8199-423d-a4dc-49b6dc3e4006 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:43805bb6-206f-4786-b976-ca6b1003f2f6 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cf1ca5a7-9b39-48b1-a25a-46f3fb98b8c8 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:18b6d206-f0a2-4f7a-b2fb-097a42bc7112 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fa1e88d9-8f9c-41e9-a47d-748e1411d5c5 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0fcccc5b-b273-4758-af52-ba5913828fb2 phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:3d64c403-90c7-4ae6-8db1-2b9cc6585fbd phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:95ad0313-5724-461f-9dd1-6439ec6de67d phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:cf91aed3-7fff-4160-bdd9-91e6ffdc4267 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1b19589f-8fe2-43ea-bacc-d6800d02d2e1 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f907136e-80b6-4159-806f-36b2316f4cd6 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:9e876dc1-d3bc-4e76-b7ef-7a4edf505a02 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4ef653f5-6b7e-4b01-840c-4aa8e421191b phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:838c53a3-1bd1-4dc5-a2f6-e41147b122cf phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2a19de3c-9bb4-4bad-ab5b-e1e24c3995ba phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:6888585c-1eb9-44b4-82aa-811e4796d221 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:743fe847-276f-4a39-9d4e-27f0dcd9b9b4 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6ecf909d-c5b4-4233-89c0-51e13cecf4b6 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8264d8ff-077f-4b7a-b994-c99364da3eea phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:970a49bf-7c5c-44d0-bd11-8292dc1a4889 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:56e96623-cc55-4a7a-891e-153aa8776a5d phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5345d697-0c30-4c47-aa18-98c8eedd576c phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c45b92a5-0f51-4c6c-bd04-c59c2abe5343 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ad0c4dbd-6dac-4440-a6db-311935467218 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6514b1c1-378e-4231-a81d-bb552a5c3a64 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8976ad05-51e4-472c-a92d-10d0d3fb9293 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5276be1b-db8e-4be2-957e-29dd45b8574f phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:34013132-e2a3-4bc4-b5c9-d8a889fb6f89 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f1c02d0f-5182-4d22-a317-4b4c1acdff26 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9f6962a3-5b1a-42f0-877e-04bef725f0fd phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:044afd0b-7447-4f5d-bc11-0c77d866eee7 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0dec1d4e-f269-4325-875f-4c5121b6bb27 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c5a8efb-8609-43ae-9bc2-204014ff90e4 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:da2bc45c-5111-4753-946f-3c6600edda82 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5329afb4-bcfa-4227-81f6-aad25b396e90 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:af69caa1-1a5b-4c93-bb55-7f20b54d352e phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bd75ec0a-cf3c-4fbd-abc6-66b70b24b94a phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b7851b7e-5710-4768-9627-6d43fc484a72 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:886410ac-be22-402c-983f-e919f54fa298 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5b632de3-e413-4474-b827-1a310ff1ea48 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36fb24c7-0389-45ef-99df-690d8915bcff phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cc4900b5-eba3-4cf8-b627-c4633df94d0c phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3e35f437-3129-4ff3-90ff-a31a0b02fb19 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:189954d6-747d-4051-9ae5-5274ce349f5f phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:908c0bc9-0dc7-443a-97db-dad3edb05ca5 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a1f35e90-8fd5-4814-9a60-7a9f745fd2a4 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:330b34f2-7103-4487-87c2-4c6ea64907c0 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bce8d095-f495-4cb3-8848-280ee7627022 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2126bf30-42b0-4233-b0ca-244835459423 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01ca798d-a952-4383-a7a3-e373f46ad241 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:508649fc-bd21-4350-966c-e1ef2eaaa3c6 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75aa4393-60d5-49de-b770-6497dc79bbff phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6da20941-5e29-4e19-a3c8-3922f848d5f5 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf3798bc-ebbf-42b4-845a-332f6fecb1c8 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cbb82d54-1a7f-4dc5-a3a2-0da2dc8b5083 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4994454c-0c3a-4469-b5cf-cf4aaa9b990f phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d80de725-1a65-4760-9a66-48452f0c7cd4 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:574e82e6-4e56-4989-bcf7-4d4facaaa937 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:97ee4407-6d76-4242-af4a-159bb526f99a phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9050ca21-7371-40a0-ba9b-657195a42613 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3bdf37fb-4a44-484a-8dd7-fb5f9e7dc123 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:62fb5907-6d98-46f4-9063-c8fb63a4fa07 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f6a7626b-3be2-4475-b439-59f8db9472ad phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9dd9ed32-f292-4707-8c90-3c8dc50c4b02 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3e2a0b08-a73d-4742-adc8-84fe63021f4d phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c383eab9-2a65-4c23-b56d-671ccdc86c91 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dd139e4c-9f16-47d5-bc94-ac0cdd1fb6cf phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e11f54bd-2df9-48a0-8f03-8030933cc820 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:90d33fd0-b3fa-4a4c-b918-91ce843bb15d phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:293eab35-c319-4e45-a40e-860d00bcae32 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:55f6ea49-89ea-4188-9b71-caec09ede3b7 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ced71d60-da3a-4c9d-9b87-ded5ea8e2413 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1283c175-2eaa-447c-b72b-0b98e94c9c8c phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2c96f321-6f87-4574-8382-afc59a4f4c56 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dd7e51b7-ac18-4a92-b270-c53a8f606e58 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b514e915-0bbe-4453-939b-f7aafdd90163 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d8da2f58-52ea-4f89-a12e-5a3e484b71cd phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f072500a-1b9c-496d-8e58-9b94255c2342 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b6d7437-f369-4fbd-a670-0aa9a3e267dd phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7ea70c3c-2bfb-4491-a897-e21d520b6279 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6a1ad2e0-689a-4644-bec9-0906197e7180 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4e17bc62-cedf-467d-a639-25dac91eacaa phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01750631-b3ef-4ab0-9dbd-0558ff043875 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f8fafe3-7801-4be1-8640-34dfdfecb54f phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eb3d8910-1e67-4b85-bd87-23f31b454c43 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09e41fb7-611e-4f8e-abfe-2949e8e81f54 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:62ee4f86-7f18-4c1b-9de5-d13839988238 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:945f78f1-4f16-4ba2-9778-bf5160227998 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b675b379-88ff-4c04-9271-1667d5ec6ce2 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:daed8bfd-b3df-44aa-8838-5c42d678f457 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:df7c94f6-611a-4df7-b966-c081ea198395 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c3f58329-2204-49fb-aa38-51219a4869fa phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2145e60-73a4-4af0-bebd-c47e4ba76599 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1477e699-036d-4e67-a30b-21209eb6aed9 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c108aee3-94fc-4c0b-96bf-d988ce25168b phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a71625f7-8efc-49fd-ba3e-a640a4d44800 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:180dacff-9eeb-4c56-8de0-2a0d0f6cf701 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6371c0a7-3a6c-421f-bdba-21d08e3200e5 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b17ac67a-3ba9-4f19-98b0-869a24956667 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fde255c9-c688-4d96-873c-3d25b39c0633 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9183c966-7e28-4c4f-80a2-6b9cbee7173d phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f574788-d4fd-4dfc-8a4e-9174022ddcf3 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:647fe5ac-03e2-4b26-9c20-2cdd9415e157 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65a15db1-0e49-4af4-83bd-43258d1b95d6 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:04f699e0-9860-47a8-a8fc-d77bfc4ce7fd phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:31884f8f-82a8-4acf-abbc-be7a13bd70ed phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c1961fa3-09c4-4782-873a-b727a3e09d35 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7d90cdc4-5675-4a2d-8246-40f3965355df phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e2d65bd3-dd73-467b-ac3a-2587828af518 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6ccbf2bb-aff4-4034-bc99-31d63119df8a phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:edd8cc78-fdfc-49c4-8fc1-426e3aa14067 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28b4e331-35b1-4676-a797-a2c2ef587116 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c9af6079-de91-4016-a207-3d36501a9867 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:438a79aa-2ded-4e14-9e8f-e48090bb2772 phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:5ddf4232-b4b1-472f-8f27-f65ab84c1fad phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:760890a8-6199-4cef-afcf-e21cd12cedf1 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:db7960f4-554e-49c8-943e-01590b0f7f27 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b9eba824-df1a-4a4d-b712-34cb633b3b8c phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:3de0b752-8ae8-454b-998b-d0b7ff422f4e phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:79e1f9a9-215a-4c3b-ad82-a5124dcd7887 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:db7f4c68-6626-4a23-a59a-f24e74146a2b phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4a1b7e85-c259-4838-909a-748112c7685f phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6751d994-84c4-489b-b68b-13352deec093 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dc252fb7-2eab-4e1a-9629-d4187a10f830 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f3ddbb76-6f53-4b29-aaa3-79a00e047cb5 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b145e66c-b0d1-4bf1-9452-e5d11fc43ba3 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:90b7ebd2-dd88-4e59-b63e-3f894ed3ec97 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a9bcd629-b828-4125-a44e-d6baa89b88c0 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ff627736-b7ed-45ae-8118-d3cc76a43d33 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3692987a-1735-4933-bc87-6cf610967910 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:356f612b-581a-4ad8-827f-a50b40a1b918 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:575b22e0-8736-40e7-8fab-e850232f3b00 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ffed32e4-a259-4862-9fa1-61e8ce967caf phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c317c719-3585-4d50-86d8-c682b93e5850 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1d8efe16-057c-4c1e-804c-ef9445b88709 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d57afe30-a39b-4846-a390-34ba920086bf phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bb972c13-bec6-428c-92f2-239c6508e94a phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:64d0fe9f-e8cf-4c85-8524-e107b2eb130f phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2cb58f40-cf30-46e6-9da5-a4300dd36922 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2b71f32e-f51c-47ce-808a-78c013a0e3bd phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:29d8835e-9cde-41db-9e22-839abb85fa6a phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dd7f8a44-d4bb-4121-89c1-5051eff0b08f phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:35963209-8898-4b16-b04f-1eaba1b37b76 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fdc205a8-6891-4cfe-90de-46ca8aae1ce5 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0f7e52a5-f2ad-4a7f-8ba3-9ad062fb0343 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1b4549a8-3aca-4c76-90ea-ef422677fe87 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:eb45ec9d-4d85-42ae-9ff6-7e12018cc358 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4e585881-0dea-43f7-bb5e-a517ecd9460c phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:95766f0b-010a-4362-b32f-bc03338d4b13 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b9f846b4-741a-4d24-aece-7b341b96142d phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:1c90e651-01b7-43e9-bb3c-17f1dc861dd1 phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:ee8cddb8-9b35-4ff7-b5d6-55062358a6b8 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ca69682f-fddf-4b76-91c5-2301bf4d597d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:3912876c-943d-4f18-9673-9c7c7dc8c5ce phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8c2dcc6a-7d6e-4377-a78f-e72627dafa40 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:b1cea847-853a-4a0a-930a-48fe06e7ef0d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c8984c5a-27c6-4d57-8cbf-ac8607622403 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:cd75a5ac-07e4-4c15-8999-2c7807b9bd09 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:47032acd-d925-4d84-af46-90a0aae42311 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:25b08b26-c467-4def-998a-c34112b222aa phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:be7b0d4c-f5ba-40c0-8e11-f3b601d3df41 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2d590a61-194f-4954-b127-d3977eb9f15b phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:920b456f-9797-429b-8d9d-89412c019534 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5e84c467-6a44-474c-be9b-20a8cece1566 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4a47a0c2-5e1a-45db-b0ea-8368d6ada9c3 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4e184cbf-654a-4566-b548-4589acc9ff07 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b252e218-0c7f-442f-9644-c1233cbae30b phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1d4833b5-5c8b-4844-a718-7d024b8552fc phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8c6f41b7-f530-478e-a351-f570a6061735 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f2ea0e2d-1ea9-4529-b941-334bdfd7e977 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b77cfb0-0e91-452a-b148-9a687c2abf87 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c251e3d5-187d-43a9-9eca-19bcb836c2dc phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:81a5cf27-4d52-481c-adf1-d64b9e034bea phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f8065604-d2cb-4eb3-8cc2-d2f6480f1c60 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:40081200-733c-479f-80f9-8fbc1d7ac921 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c56aa442-9480-4b97-b9dd-e0cf5ae8bab7 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2779f781-b48e-4097-ab47-7d30625b2571 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:46657bab-ef17-49ce-9b02-aaa51cfb619e phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:73f89bba-4f78-405a-9382-fa33b85c2337 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:76f223de-e15a-45f9-acdf-63ceb8d6ddc0 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:13a441d3-95e9-4f30-8c54-619def4690a2 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e77c99bb-c93e-43fe-895b-f76e52d9440f phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c6d4efb1-8fe0-4d61-b696-5a4d876aeeb5 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:145e42be-57bb-4861-9cd1-9e4fd0336a4f phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b9a28c19-c830-4b40-9b28-2eacc14ad76f phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:439434eb-8fdb-4417-be2d-beaa667520f7 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:520523c6-739d-4431-9590-90d99168749a phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36306325-5ad1-43d2-96e1-144b172d8c97 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e4ea9702-4ba7-4979-8c2a-533bcaf8938b phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:83fcdb48-8c8c-4c43-b86b-cba9f5be1cd6 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:da06b8fe-1309-401b-b365-8ce12da2a8c8 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:96d174fb-b0a3-47fe-bd3e-3ad9c2036f28 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3cb17e11-896a-4ba8-9c79-4ac122444da5 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0fc3e919-53ab-410b-a1c5-ee23f4d81044 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4d31266b-c9d2-4771-a51d-5ea5eeb32c4b phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c0fc34ed-2c2a-4c99-b3b6-6d0b28e9e790 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:24568d70-d2d5-4ed6-a9f5-0882163059c0 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c6f1a699-8238-4ca1-8f12-90a14e794ec1 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d702345e-7f5d-4e35-af08-702d04732459 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6a7a562-c916-4704-b8ce-2c5593e506b0 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8836053a-24f6-4df7-b27d-f520f84f0068 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9fc73570-78e9-4ddd-9d57-f5436e989e85 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:02e97ded-25ea-4d84-9897-93520985565d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3f68cea2-b7ad-4e56-88da-e46785a522c0 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6def78b3-c739-4b04-bbbb-441885abc7ab phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6b5b3948-d54d-4c34-a648-93540f5e9277 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6a4d42d7-efa4-424d-bbcf-7eac92594657 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bfba732d-9440-41a9-9656-97340b2903f5 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72a2a6da-4fdf-4ac1-9430-61d515acd349 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0a9e07e1-6ae0-4cc8-85f6-91c66a802489 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a4b2d6ae-09fc-4155-a793-0a8b147099cd phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1eed8092-1c58-4037-bc3c-eb9c51237d28 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fe7557c0-5211-42d3-b757-16611f7ea9b3 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b282456d-535b-4a0b-a50e-9225a20ce421 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:471d7cef-b435-47bd-ac0d-b76a8a661c32 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:290d9874-4f3b-4df0-8cbf-c7f0d2efa9a5 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0eb59236-3356-4f8c-b9e1-4afcc74870ea phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a415fb7d-292c-49a8-b630-4a470637fe72 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2191d6c1-c050-4e87-8954-c5a4ad816d85 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e04e9a26-8076-48e4-bd0b-87726320591e phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72e4642f-a246-43e3-8b69-e5f777800e74 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:77672697-f257-42d1-81db-e0174f1934c5 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dfb236bf-9d7f-4e60-865b-a25f3f9ce912 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09c94160-882d-41eb-8cb5-2b0d9f07e01c phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:12876496-b428-45c9-b015-d48ee4344a27 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a89418b8-3242-4150-a1c8-8d43962e3ce6 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:13ae7ef6-0fdf-43d5-8d17-18afb79df77d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e822306b-56ec-4748-bcd2-ce88576fa5ac phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0538569f-c325-42d8-b7c3-12b914f30afe phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b9515b52-f137-487f-8482-d58d88a29d54 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5754f56a-848c-47e4-b754-784bd990cdd9 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f26a8888-615d-4367-b550-4bd9fcb558d4 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d1ff7411-6ee2-4df4-a76b-0d49120f36da phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a7c4d206-7f2b-4205-a222-2a46e0dcb73a phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c3efc562-36f5-40ba-a011-c0e34c8cb395 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e7b1c383-0db6-4ff0-81b5-d991efed3b6d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:67fc98f9-7964-4ca3-872d-e3474654c1dd phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8091536e-ea41-45db-923d-49cc4102c71d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5530c1b6-faef-4966-8680-512b8e0a3a96 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:80baad8d-3f24-49d9-b381-f162549cac2f phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dd112b87-5482-4a96-9faa-166606d2744e phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ad9096fa-cd69-4742-ab36-1fbe5705a1e2 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:24ddb1e3-dea5-4c48-9a45-364da61d4ceb phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8ba4646f-a6c4-4158-b6bb-eb8204fbe89e phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:36fb2b0d-2a03-4458-9a89-586cbdca51b2 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d46daf87-3bb4-4baa-9967-bbddb6087b90 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d9dc3813-2091-4042-ae90-265fba1155e6 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6f18fc2-b708-49b4-8815-cc763c6f0b0d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ec2b7720-84e1-4c53-8d21-12f67feef15d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8c834377-5025-4b2a-a845-ef5dc861811f phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7cc6ba06-2a53-4479-872d-57d80a775919 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2505ce1-597c-4f7d-9cb8-57c205694aa0 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d0265d8d-fd96-4fcc-8544-5a78794df931 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:62f488c3-9b92-43c0-9c3b-dd4fc55a0b58 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:24a5a5fb-9a6e-4525-8f56-7da0bcb1f25d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:20544f02-cdd2-47ad-9d8a-06ecec78a69d phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:0e843053-aed2-466e-ad73-3b8ef7190bf2 phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:17bbf9cf-4792-4650-a144-767de6e335f0 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:3b895ce1-6d5c-4954-829a-82e6ea04eef1 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fb96285d-2731-4b48-9f32-3040fe529429 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:54858ed3-f328-43bb-8e09-0b5b713c9cf6 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:41efae46-347a-49fb-a3df-ffaaf876f5a8 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5a437d45-d3c3-4bde-8a7b-ebac8fc45ebc phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1617bdf9-38ed-4e7d-94c3-15c979e3634d phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e237c2f5-74d2-4d92-8f06-abd37efb38d8 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b377166-3a6a-4ebd-91b7-3b038a93e0f0 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09c712b5-cba7-4810-8432-3acaa1fe315c phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:130ce67f-9496-41c4-9966-02e13c95af7b phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:366c6fc8-6170-45e0-96da-1e385bcc2060 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b7a1f95-7f93-4984-a756-cbb210859dc1 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6994d2b-934b-4fdf-8f59-47eaf45a2834 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01c0a61c-e94c-4c4b-b390-fea0d4831103 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:965db10e-27ff-4bcf-8521-6f76db5b201a phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:63744839-45f5-4d35-b46d-b9bbb7b18aed phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cab24b63-bf29-4cf8-a823-22d846de474a phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:29b8cd2f-0598-44d1-9d73-c37080830632 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91187ab9-f57d-4747-9ebd-5db0e51d9ae1 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0dd1e65c-218f-49f4-807f-efa682d744f5 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:db2af04e-f73f-42a2-a567-f95626637cf3 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72b57828-fa9c-4036-a168-70700f4aa496 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:407f9488-ea58-419a-9491-e397f1f4b870 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:92e9ae03-3a5c-4c20-ae6e-8dd79c339859 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72bc09b7-1aba-4583-8ab5-f92aa0a68a52 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:13720480-caf4-4ea0-8e44-a3af9bc84b6f phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:52eb0d9b-6dfd-4bfc-9ded-b7ef66b0240b phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f069ef41-8cce-4082-a6f8-11db43b8d1ea phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:abe0e6c6-189f-4f26-9712-4b8aae7b1066 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:314c115b-960e-40d9-af39-249ac9b6b14c phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d92a31c6-d05f-4d3e-9d9f-61ab2343dc39 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f8864bd4-d0f4-4600-a2a2-4b6621d003b9 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f8134d12-f7af-4f2b-8298-9ccb8614eefd phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9df930de-dc6e-4e75-ad8f-3566e309040c phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c32ba6f7-179c-481c-971c-c1b316038f6d phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a9f7012d-fa7b-45a3-85e0-51540edcfb13 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99c2d3ba-7e76-4103-b0d1-8c9198764ca8 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:651132ed-3778-4323-8283-92b3e26992bd phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f68c963b-0535-43eb-ab4f-303fefd6a64f phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:efbd5224-9d72-433f-a4e9-976de190da8a phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a3fa9aab-6b07-4216-9b0d-953d1af429cd phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6ccdf47a-eb3c-44ff-a78f-36ca128a9377 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c7b42807-04ec-4f34-ae31-ef1b307185b1 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:488fc607-dbe3-4bc4-9af4-2f51cab011b5 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f4062d8e-1cc5-40bc-8c4d-5f2a11fd0632 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:67ac5881-0616-4816-9acf-1cdfa56ca098 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:553bf8c8-6bd5-44e7-ae93-a517c146a92c phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d4a9025d-71c7-42c7-bc73-e11c2d3c9b59 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0cf595cb-3f34-44e8-94bb-af331196d6c1 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c65b41f9-7fee-4e41-9d62-6a7b34944dc3 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6d3a95e-789e-4448-b854-49c935dec1c3 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28021d8f-0822-4261-b566-1836b71402e0 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:469c9b3e-8396-48fc-88b3-89ac19323905 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a3f6746a-baf2-41fd-bf71-1a799945e57c phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:81d4e476-4bbf-440a-96f1-81c26d69cb23 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f414e7a1-197f-46cf-99b5-46a6ddd2692f phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:52ef4031-d954-4129-b347-80e371538445 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5dcb9e84-93d6-44f5-920c-f353b497e665 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:03f1becc-b90d-4288-a340-be332e0d1d8e phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:69914617-799b-4dfa-b32e-13bb0b661f32 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:71c73bc2-62c3-4470-a2f6-80e3556a44d3 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:19bbfdd6-540e-4766-be4c-9ba35dd2c3e7 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:51e92334-2cc1-4c6f-aabe-2b88abeafab7 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:11fad3fd-751d-4e64-b31b-7782ec7f9aec phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b7fae418-b994-41d6-98dc-d6608f0b507b phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:40c3ec3c-27cd-4116-bcaa-35aa77d835e0 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f6177cea-7bbc-4168-8251-9227902fdc35 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7f693e0b-6b4c-4ece-98b4-3da18711822a phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d3475621-f386-4183-85d6-bc274c275ea2 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcf37043-b343-41dd-afb9-2534d28355dd phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:98ac4001-e9be-4ca2-a838-a7e04baa2cde phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6a74ddee-3196-43cb-8897-1c6bf0e6a9b5 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42aaea2f-9ae6-4116-88aa-5a3aafff1cf7 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2ae8fb95-cabe-4987-840f-5450f1ba3d99 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4deb34ca-b229-4e81-98e0-befc27ff4911 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01aa4f23-47be-4025-b2db-7baf47b85c9d phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:78463e70-612e-4e2f-93d2-ac6002ee4e60 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:433fdadd-aae4-4256-ba59-9aae46b7dc9f phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9c29bf50-72f7-47d6-b008-2b7f2bacf425 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e9c4a0fe-7bf6-4462-8e27-db1653a567e6 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d3590ad1-af67-4b86-9c7e-baa6e7996807 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d51ce909-40ad-4468-8de6-3214b16f1b1d phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ed0b889-6188-4435-8e41-22b60c2ba881 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:88110f36-e750-4483-a37a-7f7d11d49986 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:462fdc29-ffc0-45e4-bae8-045da73e6c52 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c5ae41cd-bf60-42cd-bf41-8dd06f5b9d32 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91ce5816-a79c-45bd-a39d-d640ab6e64b2 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:76c25d4e-cf95-4654-a34b-fd4302e7371e phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:115a4df8-3dec-495c-a602-dbeba2263fad phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ba77692e-d476-43b1-a14f-a87687a935ac phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4be4bb35-b067-4574-afbb-be2738d54d4e phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:62517088-d1bb-4cbf-9668-4868f2c668c7 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:05f52055-af48-4fe2-ba37-f08bfa6d2c7a phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5e7872d7-c60a-4a57-92b7-38eba3d874f8 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b21ee2dc-a091-436b-8429-04bbd27d9069 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ebc60ab7-e852-485e-ac4f-9d11763ec329 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e20d1fff-e610-4554-bd8e-483ee2a13063 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2815e80-2ae2-4ee9-a389-7f97591c561f phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2045e63c-dca8-4896-93ad-265c2299d1b0 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99f1a83d-5a06-41c6-b5f3-06f6689dc89f phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cb39c59f-8bbe-4fda-847a-2077de1598cc phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5c49bcdf-b89a-41c1-ab67-8f6a0b1e71db phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d1b90058-821d-4550-8607-75c0cf6e4efe phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6a252511-ca6c-4538-ad37-bdb0f46cfbb7 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:73161c7d-de85-415c-b8a9-44776167ef62 phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:00fe8753-5bc5-4c7e-9971-73a648f94389 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:1f6ea264-b036-4e36-81ed-b3d1c3a952b4 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2b5cef79-f430-4ff8-a55a-61a7dec4742c phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:3fe18e50-80ef-4a63-a9ca-7bf8a7c9d612 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:08dfe19a-72f3-4558-ad01-2b0aabe8cc3d phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6874f2b3-81ce-4f40-b695-7879451a2ff6 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:c97ce123-81b3-4aa4-9406-bf5b163101c1 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:bcde0037-2272-4831-9399-5ff07b7d94c7 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:7b69eac9-bb13-4574-8676-528835b7cce9 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:fe32ef00-6499-4b4b-b1f8-bfe9add96347 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:4d615678-ef8b-4bc4-b3bb-322ac32793c1 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:741eb891-c688-4aec-81df-eadcfd1396b7 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f58a9301-499b-4f64-b32d-ed967b1aefc6 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fcda17d5-1b1a-411b-801b-9681804a854c phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:06cfe154-85f9-4a45-b684-0217ece8c6b6 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:36a2fe69-0730-4f87-af0d-a0279b30304e phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7354a10a-8c60-4028-a768-2a44ba6ffb63 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bb7e53cc-a31d-43da-bf77-617556bb7c68 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ec53809e-3f2f-48cf-84f8-35f83941a13a phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d25624b6-4e20-4472-b74a-eb3f1ebed609 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:29ce65fb-fab4-4464-b2ec-370a0ef09227 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:54dbde44-d81c-425d-ade5-fb246fc3ff23 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2d15d1b8-f4d6-4983-ae20-ee04e7fdb707 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:eaedff64-e0b4-4526-8421-fffb4dae046a phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a1e2a418-3cf0-4e05-bd9d-0fc1e7ebd1d0 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:83bf8290-d7cc-47b3-b315-de93f107c074 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7d2038d4-f472-4170-8090-27e0061cd849 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:843ee0f0-02b5-48ca-b38a-928b0cf51bde phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:24631bf2-3543-41bd-b826-9429fa922061 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fef12a87-d61c-4872-a1e6-b2aa1b6cb951 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8a80901c-01ab-4e80-88e1-9a8943fdcfa5 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3f2d2cb4-1b7a-4786-a8bc-d345c310dd4a phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:29f02ecd-b4b4-4c92-a921-9a353e48c971 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:33a825fe-dc04-4e07-9ce8-5fe78fe90d5e phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:11d1b7a5-6e9f-4fd1-929c-f49903d152c3 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:87734e3d-0afd-49a3-86a4-e11f79e86a42 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a451d54e-f689-4a4d-99b0-7bb853449b4d phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e63cc3a7-f5e9-433c-93af-7edc90742624 phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3913aa71-5a9d-49e1-aef2-496523bcf2da phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3f92978c-925a-49bf-9c2d-14e5a144cb6f phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:d66bf399-08a7-4f29-8ad0-80aa4419770b phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:59c942c1-b597-45e5-a248-07c8937b057c phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:7401557c-9565-487b-a8e9-ae6ac5a459b1 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:f543ddfe-0214-48af-aa7f-025e8b3036ff phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:85616412-b0d1-431e-aa2a-8879687af833 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cfa85881-aac8-404a-9929-723c823bdd2b phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:c0c8cdd9-486f-487f-8231-dbf93cff7492 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:165d3b2c-4feb-4d1a-a6d1-e6404911c269 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e8d32f33-0c1a-4088-aafa-f29c7fd23aa3 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:adc256b9-2b7a-4e9b-9a8c-1acb30c9bca0 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:8a9df545-4a99-4fac-b842-654449a0f051 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:696668da-8bd9-471b-b340-2c477eeb5340 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2678b2cc-cace-4246-8b1a-8747f9d5ed86 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4ec74ade-d178-4287-9e6f-6192fbca40e4 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:024e3841-ddc0-4595-a02f-ae10fa8f607c phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:afd68e3f-edf6-440c-8d6e-6cbcad97c7bf phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:846b1337-d8b7-4ba5-842d-052840662f2e phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4c2c4fdb-4a03-469d-a77c-0910a1734ec8 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4e2c5428-07ea-40b7-a2c9-d42253d05c14 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7b63dbef-ba33-4076-be61-dea54723239f phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a421ec62-54f0-4662-a7dd-9dbe35f1458a phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f80a3098-f2c9-44dd-9b39-e73d85e90049 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:32d07bae-ec11-4ff9-bdf0-2a4b7944f557 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5bd1ff8e-d83d-4ba0-97ba-1be968f87caa phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1d00dc33-5656-4a40-bcfd-894a1ee1ff57 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:842df77d-c5b4-4585-b2d8-bf9eaa7853fc phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5c22e654-61e0-4798-a7a6-1fa254631c2d phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3758db26-ed45-47ac-a2f3-b98a06e7abf7 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ab93eb3e-da59-4cb7-8f5e-505033617591 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:040b7bbf-ba54-437b-92d5-08e44f7039fb phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ae6b0ada-b923-4952-b963-726887af1875 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:adf3cd89-610f-46e3-8175-8d8433ed9a12 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aea50870-3da1-4f93-a571-0f1e8113d603 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f5860fa3-8bbf-4c56-af93-eb713cd32554 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6fe32b06-72f5-4987-a9b3-85de12af7574 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4200c306-3e00-4af0-a429-8016957f1009 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:78370e3f-562e-46a8-839e-b4af127e9d12 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:15be57b3-2053-42f7-9606-26fba7471da0 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d30ad7ea-cb60-4f05-be3f-cc8311804ae8 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8431b50f-0352-4a91-ac54-8a872776af5a phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4bb0e5cd-e7fd-4115-b9c4-cacea6209d1a phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:985a8dc4-2bee-4855-812c-b7ddaf7a0080 phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:f09798ec-b28b-4ba6-8625-eaa5f292d8c5 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:bd707384-20b1-497f-8c3c-302829abc520 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:d0f4893d-ff9e-47ca-8660-18e56aa6509e phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:431f63d2-ad0e-4f72-8e8c-c759524b9815 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:fc018d12-54b9-4dec-92a5-a0195ca335b7 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:014926fa-2be0-46f2-826a-86ceadd2ccb9 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:c6a24d4f-c011-4b98-b29e-c21f38e1f5cf phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:02817008-34ca-43b7-89ce-ad79802bb441 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:03cf4d84-0b7e-4c47-bce1-1ca5ded203b1 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:219415c0-0788-4408-976a-d650c5148e07 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1c412cc3-6ca5-4e34-a73f-76a3b0f144f2 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:067b0e21-db1e-4e89-bff0-821ec09af357 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:57e9f11b-742d-41f4-a509-be473aef34fc phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:36555430-84ef-4580-a195-17fc80aab7c9 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8d3d47e7-1800-4cf6-b031-bef7c896c8c9 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f6f2a263-bf01-4ffc-aaa7-2ffcf4beb379 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:674060f8-6c0e-4157-8c05-fda73b26e698 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a087aba0-b34d-41c0-b9d2-3514cb707216 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:30778c1a-52e9-411a-b14d-b4ec1a916a86 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5e232b29-3b0f-4697-8475-90260f132757 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:48ede627-4284-4e12-a4bd-13ee1d262ccb phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c7fd3959-d848-4d46-9e32-cfb269159b44 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:106e119c-4c19-41aa-9ef9-ddacd8d5a5a6 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e3a9b43b-29a2-4340-a2be-6493def74987 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0ebf9cf3-8c9f-496a-b20b-9106637e86d8 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a7223d17-2dec-4e9c-ad06-030d365e4180 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f0d37ba8-9080-4277-bbd9-79d273791b5b phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:49925065-fd91-464d-a158-27ca58376dad phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:800965bd-fa54-49db-bd0b-cde4637a639c phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a270abc5-1dcb-428d-aa86-a4906423acdf phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8c7bfd8b-2ff9-4fa4-b919-383a257a4e1d phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6b836f1e-5841-4fe9-9377-38e2a66b234f phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3e7e2f0e-0397-4d05-ad44-47bf0aa1cb0c phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aa2c93e9-5ff1-49ac-a182-226be4fa187b phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:54b11de3-a0a0-424f-98d0-81113efed090 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b8770e91-0b12-4531-b1a4-12fff2dec80e phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1aeca088-0e92-452e-96ef-172ef5cf8a69 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b5a8248d-bc57-42b1-9111-097484c50280 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d6681bde-2b03-4a66-bf40-9af1933cc494 phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:7047c49d-d208-4b37-8290-3852a99f178e phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:d4eee699-3e3d-417d-9f49-db1235fd8f09 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:fc152aca-5883-4f2d-bff9-8f7dfd99f423 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:5955feb6-0e4d-4403-9c3b-4ca6658ab004 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:d1150ea5-5e50-4fbe-861b-eaa62a96e9e0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:8aff7ca3-49fb-4e1a-a746-09fbd1e4cf8a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:273a2350-8a32-41a4-8b55-220051d90bc9 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d8cd8ae2-0f49-4fed-a8cb-a12004a97cc5 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:38e9a505-52f8-40d5-a6ce-137eee0ab70f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a075fddd-cd84-4ea3-917d-a048f15a58dd phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:927fde71-e63a-4f38-a44e-f8caab2dab70 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e0c20f31-a107-45d0-a927-a4be922624e3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cfe47a20-6f15-4654-9dda-6455087db7d8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:42851a23-7944-451a-bcdb-6e947cc8565f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0401e53d-c3e0-4e3f-87fe-3c31a7401903 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:219da4c3-b87c-49d5-91b2-c32d370c24d9 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4dfa2c2b-f313-4799-873d-3e379856449c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dbae2d49-8020-4d82-998e-847e9e7a8c95 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c2b922ef-215a-4a18-aeec-698d0a858d8c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:145ac2d0-6e58-42e3-9f98-74e4c1638ed1 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d1ba4dd5-8ed3-4dc3-b529-f89c8ad5f167 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8ff89262-85d8-48a6-85da-ef55970878c4 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a224556c-8696-4653-b679-37c089758503 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8c357c4a-df8b-40d6-92d8-0a305dd8edda phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1bdcb5c9-0535-43eb-a2b4-90a2abdb5b07 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:02d74ccc-2a3d-456c-8bdf-b41b9a3e0203 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c90c121a-ef70-469f-8af5-7166e169a582 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6883c4ed-ec4e-46a2-9186-54de38195132 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a2297e5c-5411-4bd7-8eb9-db03f8f4e07d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:101f8b50-a2f2-45c1-94d5-16c9ac582d18 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:807c0746-8e4e-4ab8-9952-b753c6726a90 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ef07b91a-fb1e-48a2-a5ce-e9d85298e790 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e7012cb6-3fc4-48c0-bfda-e66f022c0d6d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:37e4197f-1334-497a-91da-4cd00efd5b52 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f299632d-69c6-4e7a-9e60-525dbddda1c6 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:774dd304-3f54-4124-af00-7f59300370d3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0e7180b7-10bc-4302-a4f5-65708458fa7e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c8904ff7-e3bc-45f7-9761-94ce57633eee phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5e05fabb-7b9b-464b-a683-45a0d3b2ee7d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8994f95d-a9c7-401d-bb0f-2ac2d8e92678 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ab768a5e-385d-42c9-a583-90d3a8b5987f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b6380b5e-9b2f-4dff-beb7-34bd872203e0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bd56aeb3-4fb8-4f7a-9817-0ecbc901e8ab phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b351ced9-4583-43dc-be10-824d8bf58400 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b81dac49-3dde-4fce-ac32-ef8a2936e616 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dcee92b8-829c-4e9f-a98d-93415ad0ad87 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5d491edf-073a-4343-aa8e-150b76ff30c8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:68a4554a-ee67-4259-9878-a0bf78f09805 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fe308e04-1787-42c4-ba07-94fa3db813f7 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7fa47d3b-4a8d-40e9-a33b-ffea51b9b92e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1f9e172e-1a06-4261-9516-b205c655091b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6b92854e-f26b-4404-81f8-e15f8883ef99 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:55d5773a-96c0-48fb-916d-e150062dec8d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:29bd1c95-ec77-4d70-922e-b149467d21da phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1d6cc104-a9bf-4f58-b1f4-9130d7c57fb8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f0073068-c9e8-4eee-8ccd-4d3881d29ff2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:236a123e-6176-440e-8bf8-f670082fdf60 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:51dca47d-e4c9-4a26-b97f-e5889f6252a3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f86f91f7-0530-4792-b61b-dd1e4d9e8945 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:af1ecb8e-e51d-452f-9cc1-646bc6ceacac phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:429c5599-5898-4212-85cc-4d811aa3f18b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:efa95cdd-5fb9-4cf1-98a5-66082d83352e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dc502a80-a4a5-4add-804d-5fe12b5c94fe phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d3ae8c14-c992-4040-ab39-009fd6b8befc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e0ea5f10-4516-4fb3-86e8-c49a2e4e1161 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f7f784ae-27da-4e14-8685-5f34e0c5a04d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2e674e78-2d8c-4a32-b9ee-8328318861ed phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4b9c2666-cde7-4953-82f0-cdacd4f54d37 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:49f40f4c-7c65-4a12-8c68-5fa2cd5752b8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:26e6a1dd-88cc-4e70-a1ee-379e1fc28ede phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f66f2d81-eee9-4c13-b0be-5683cc612978 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:17ee6397-6798-431a-b7cb-e48ad4b533c3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d0f05dae-97b1-4594-9830-798bf50fd9a9 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0a7a356e-d8f1-4efd-9afa-49fd9450934c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9355acbe-0078-43cd-a2bb-039828b9a337 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:73704418-97b3-4169-bb8e-c25ace960044 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:faa1f5b1-aa0f-4a1a-9604-3af767a04fa7 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:606e33a1-8505-4cda-8a79-38923ad4d5a0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a7123d5e-823a-4d71-859e-25a03dba8c44 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7842e4d5-3bad-48cb-baf6-cbad3ce070d5 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9189cee8-e7db-4e89-8058-8e8fa42ebd79 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d37491ba-2765-407c-ac9d-e4b0924dcb70 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e44cd1a9-4382-464a-8cb6-b0a037265ef2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:28508e96-bc4c-4798-a36e-7a97d69de319 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6cfebdef-968d-4254-b0f7-899682c4777e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7bfb2a95-ac8c-42e3-b371-ab860ad277ce phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:61aae187-b49c-46f3-a2b6-c443204d3b0f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:148df2e0-7882-496f-9c87-2c76f40f87d6 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:4e98e45f-08c7-4bd7-9aca-4a5c48c3e2ef phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:df16d7d4-28b1-42fa-899d-e970ab48092e phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:8dc7980c-233a-4d74-a585-be2f1c370db0 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4271a1ae-b5ff-4d83-ba90-3f7c85cc0f99 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e25de924-282d-41e7-bfb5-3a22898db5b6 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e5e7d4d1-3cb9-4aff-9f61-d1d912cda820 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:3ad306ec-adf2-4126-9ae1-168fa47c5d12 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:88730934-2909-43e7-981b-ea6c384b1f6b phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2d03d975-3322-43af-839b-8e26234bd9fa phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:138793bb-97ac-4ab6-a077-7d6066338254 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9b5a4d8e-19bd-4c66-85ef-0a1b7c594bc1 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:608ed232-12cb-4081-9d9d-8383d3185648 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0d0c992e-54a2-40f4-9f1a-9216f0650a7f phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf7d9908-3548-4874-aa34-228718a0c256 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f7e91f4a-feb6-4490-83d2-883c806fbc60 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f293b8bd-3dab-4e0c-bcbd-f61e6e18c627 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:64ba0825-4abd-42ab-b883-3df6c61d79e4 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e7abca1a-d83e-422d-bb4e-001dcffc2f8c phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b87183ff-977e-4431-a7ef-c4fbba3821ab phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e373185d-f61c-48ce-9834-1c235817f0de phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d86d96eb-36c6-427c-a18f-14e78b56dfa1 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6b1c9941-bf20-46e1-b664-253af691abba phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d3373135-7229-4e07-8a52-1e354e18d733 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fbdbc163-2eab-4d37-9f45-c58354ed8ff5 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b7a7cfc-c858-4080-9d84-85b459609333 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:326a2b7c-4d38-45dc-ab00-b527ab220f71 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:df65cc57-401b-43ad-af83-1dcaec2de0d4 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5449fa96-fef4-4424-b1a7-3001a14b72f6 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c1548ec2-4776-418b-b60c-fc91342a6544 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a18d5876-a333-4c38-9a0c-31fb78deb8be phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c2253b32-c3af-43fb-a646-dcfe9091cc7e phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:12fd4431-366c-4586-9746-1755b47de387 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c2565c4e-9305-4e47-ace2-90c172ab1725 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:24bdfe93-9224-443f-83d9-be6e2cde3116 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d64f2d4a-9e4d-4c1f-80d7-92ac6c4b2a4e phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b4cb4c4-a508-4bac-97b3-8a703f4dd5c1 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c20834b4-9a08-4102-8c0a-15c1a0481ba3 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5e0fda8d-9a2c-411c-ab05-b5d4b8edda48 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25f62d3d-3ccf-4ddc-a5af-31515501e589 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c1abe72-2e8c-4a0a-94ce-7148bf1e8edf phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7860eec2-8728-49c7-9c69-8ea649a26141 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a7f14a67-1353-4460-af9d-f56174e9cdf9 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6cc15192-1515-40cc-bdb0-083462793d73 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:12bd31dd-2cf3-4808-bc74-c407a58d0984 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cf0358b1-f366-46ea-b94f-83e75c4e1ffc phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0eea1e7e-bb1c-44de-92d7-7539f165000b phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8260e063-6a9b-46e8-835f-3bfe203364d3 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b148be83-ea3d-4fae-9853-3b246bb708ed phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5f555285-26ed-4338-8e75-f908ed92768d phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4f65d93f-6ad8-4864-98e0-8cbf1304bfd4 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c2214df-8dae-47e5-b678-59a452c118c8 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:80f7a312-ec20-4e5d-8d23-296c5893e73c phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d9794436-0b11-463e-8e17-76f99c5ce51b phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3d1acd2b-a401-4d3d-9a9a-303a3b6745f5 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a91dbb77-7ebb-4bc2-8ce1-803c0758e958 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75861787-3852-4e39-9450-d68acb6a74b6 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:351c33fd-0aaa-40d2-b252-5e92ab615165 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cdac175e-f19b-4454-bb48-aa59534dfa60 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6857b042-4ab3-4e89-9fb1-93468ebe58d4 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4a872b88-755b-4ce1-84f4-2856283b1572 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f54916cf-1868-49d0-8744-2d9d73b15f81 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aa55c664-d3e3-4f16-9dd9-901b0f0b32f4 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0009a371-293e-4b8f-be3e-4a3d5084b35f phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ecd5a571-97c6-409e-8c95-f77ff2a8cb95 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:76be2c44-e7de-4b91-997f-2aaf84107cd1 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f085c306-8812-426f-9537-fd347eda3ede phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3b339567-5c78-4bd3-b6db-ba61958b2014 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:168706f0-51c0-4669-9d64-4261242ae148 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5596a901-4768-46eb-a338-1ceddff6e616 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fff85cfd-4dd7-4d9e-8e66-82513347dd61 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cbfd410d-e67f-4a13-92ca-35daa13c1231 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5711ed75-f7dd-46e8-8845-cc6642dca15e phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:48d74cf8-1c41-475f-beb5-75d1487b638d phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7bba9725-567a-47d6-a246-639ab3168765 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5fd94061-a8e0-42a0-baee-ef29c84e9f86 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3200d0af-f93d-4d69-ba35-9765693485dc phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7152a8c6-c689-4004-8848-78665a4043da phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f675f7fa-c725-4566-a907-5bb46578917a phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c620c8d8-2fcd-444f-8e98-54a8e4a651ff phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8d109826-73d6-4cbe-b0b2-06bf705bdd12 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:765ddac3-98bc-4c8c-bfed-6f5bb8072929 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:524e1060-35fa-4b85-a6fb-174d399cde8a phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d683f2e7-4f8b-4941-99ae-09bc1456679b phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:702ed0af-680a-45d1-ac5c-2015758d459e phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91b15055-42a7-4f43-9a08-5adf80c4eeb3 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:41454751-2684-4fe3-bb69-13a9e19d4139 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fcdf7bbe-a92b-4987-aede-da2dea0dc1ac phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c9779f0-6df0-43ec-8d29-00e953fb4659 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:df4b8610-0dcf-49ac-93f1-8a9d3e98040a phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fc2db385-ddc9-468b-aea8-a55b3e23f28c phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:570648b0-4223-4fa8-9965-e2212b96e1e6 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c159a9e-854b-47c6-a7e5-d36a87b6b602 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d9aeb07a-2b40-40e4-9a27-f08f23fd9adb phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:de11f97e-f2ab-4a3a-9bf3-3f2a250bb770 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:460a91c8-5974-4f25-b681-cbc788be0866 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bba7950c-6ca6-455d-bc5f-132fb598fd23 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9713e150-c976-4caa-a29e-4b6c4660e300 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b982f70-f7a1-4a8f-8d3b-0fc6ae46e933 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c1cb5e42-32e7-442d-961e-4156f36218c1 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5a4c26ca-ae27-4a95-bdc9-9274ef9151ed phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6fb28d82-edaa-43bf-8a87-34272467e76b phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6d9433d0-ebe7-449d-86bb-b06020d449c3 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3075d1a8-e827-497d-bbb5-8ff79baa72c0 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7770745b-e70d-4d33-8d1f-666309d94c90 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:1ce1a25c-a59d-4900-b3a6-36f4ad30c718 phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:45280b3d-20b7-4c3c-9163-509c22e84c95 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c8a50740-9b15-4a91-aa7b-7fd1e260f072 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f53a9ac5-24be-46d4-ba91-fe80b249cfdc phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:bda2a71b-71fb-45e2-83dd-5379e10bc2b1 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:880fcb71-677d-4358-95be-27ee1392a66a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c078386b-a36b-40e0-9645-f0e944b8f9f9 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ef9a0656-7584-47e1-84ce-cc377b5e0a14 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:06d24c7f-bdea-4d3e-80eb-14c7e7002aa4 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:278089bc-7d77-45a4-9b7b-5749eed8fcc5 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7ab2ad69-8953-4bb9-a115-e3957d392743 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c967605a-5b30-4e32-b79a-a96af366bc3a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1a279f08-cc6c-42bb-8135-a3e2dbf06c4b phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:00d55054-8f05-43b4-82da-cde4f62389bd phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab8ea970-3602-4ea7-9fd6-e36e90f2d234 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:df86bc3d-e2f4-42b4-a561-1eb813682111 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cda5c632-0c58-4d5a-98b5-2be5cf4f5fda phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d921a931-03db-4311-8867-e9e4de39edcc phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b0e4f8a-46cd-4d3c-ac61-287003031785 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:582b2d96-08dd-4d8b-aa4c-21888a8084e7 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:255ed0a6-21ff-4f54-a41a-8fb7c1c31072 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f7f271f8-c420-46cc-a9c4-17b750605372 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c663480e-0ba5-490e-9f8d-7bd740277359 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c812890-0689-4b62-b8e3-a0514c63b5c6 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:81a849c9-e7f7-435a-a2a0-a873a03d38cd phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8363122d-7323-4f09-810d-f17ddcf0e181 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac52ffd5-971e-4b24-b0c6-02548102b70c phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:edda2cca-6292-44ca-9944-5b6ae2299da5 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c732f584-6d78-4e4e-a5f8-406761cf588a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a5745fe7-0f32-47e2-95da-0d07572e2d41 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c112a0d8-6e14-4139-966a-bb94da1a3c5a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d4a22c63-5002-4975-ae94-de1d88edef91 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8a046129-3b4a-4829-a2b4-5e41037ec76b phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7c1550b2-7185-4f6b-8402-3df281bb97e9 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f74781b-b050-4d68-ab64-4dca2198a61d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a680ea4f-e8c2-4168-964c-4a7b4e5666aa phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7b1942aa-42fa-4482-b94a-9773f7c3eced phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d0d5058c-6bd4-46f6-aaa4-42b04655bb0a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28799e07-f9fb-4f1a-8cf8-a61767ccf8de phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2b273758-5d07-49a7-aef1-18bf5ae23ddc phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ab5b4d46-d356-4ba8-9d39-fcb63f75ecd2 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7720db43-46fb-4367-b350-4faae2913fd3 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d2273404-f7a2-4254-a537-4021c77ccb53 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a435dfbe-b5dc-4469-a391-1776d9a57611 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:607445f6-4dba-4d1c-8360-9f70e6551312 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8624eeb2-f999-4a72-a276-629be5092ed3 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01a3533d-8b3b-4715-a0e6-18cb75c0f474 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4ea4ee84-21b8-419b-8fda-d1422de35fa2 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ddc0e4f7-f85c-4ae3-bca5-374a49d9034a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf851051-9c7c-4cf7-888a-7cc0d4c2c76c phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9cf3730f-39b5-43dd-b08d-2239bfe19f52 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c0c43c56-d70b-4250-be38-513d582d0446 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2108811f-f633-4561-bca7-9ffa95b96965 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4b33d439-1de8-4379-bbb8-c6c65299eade phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f0113b08-e5ed-4b01-93f0-46a84c6d3c86 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:95459839-ce01-4564-a13a-48911fbc2a1b phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:009491d7-d783-4183-8375-17e9ce78dc4d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0fa042af-25e3-4bc4-846b-aed4ed1d5a71 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:533e0df7-64e2-4089-b8d8-fbb2531c7aef phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:52c2c467-797e-4e46-ad31-522ad8087422 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f5ca134c-e6fa-45b0-82ed-e344d69b3cdc phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5626cb5e-2c87-4ad1-838f-a3bcc97fd478 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b46345b3-796c-431b-8a1e-8bdc002aab1c phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:14733b98-1a7e-4ce8-a8d2-7c5bc860ed6c phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:880726af-d166-4218-9058-22f06b54fa61 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ffa1e385-7352-4341-b01a-6328ea7092ac phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0aedb038-5d80-407f-a762-dae9e261b611 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3b103a6a-917c-4aba-81e1-a3c02d2b52ac phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8320e6ef-8ee2-4ea3-b520-a34d8e45fc83 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8964a8d6-da91-421d-bb5e-25fb368396a0 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a96f34e-a371-4292-885b-4ba13b1df91e phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6083ffe6-5832-4f36-975e-515c878a5514 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dddfd327-c011-47de-9cea-230c6f5d203e phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25ea85ee-259e-49ac-85e8-816aace91aa3 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0e68404b-1392-4e74-8a70-83f91a7ce7dd phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d43399d6-1be9-4da7-8e73-d416634a6d42 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3f9098ae-0d86-4b01-8351-7dc901b8209f phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d7c32b26-365a-45e1-87cc-84f5e0471e38 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:90ad515b-1e95-40ed-a05c-394e62e9774a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:addf1d6a-f20c-482d-bf2a-9d4a4cb78a8b phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac0b918c-2581-4b2d-a1a6-02b3be60c290 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9d1143d7-e394-4847-964b-ef3e89fab4c6 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2fe3cfb-4548-4827-b506-c74edf5635a0 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:93497f32-07d6-412d-bec0-368f689ef0a7 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42e0d2dd-8f24-47ab-8520-269e9c71e3b4 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1fa32b06-f482-4a4a-b022-498cec400c0d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d5b824d8-ca4a-4304-b1ce-959a99183d48 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:549a2aad-f913-4391-90c5-8def6bc64bc0 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e86c09fc-7e0e-436a-aecc-857b9d93626e phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f539a3e2-8551-4c8b-80b6-41dd2d76e7dd phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09d1626e-6f73-4104-bcf8-ccfd019d472a phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c34d21c4-6f25-44fe-8957-41009d8e1d45 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1401f2df-30c9-46a6-93a0-f99b5e246c5f phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:193e03b6-6bb1-46ce-afd6-702d576d38f6 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:58388bbb-fbc1-4a0f-86c7-7f53e3ce5bbb phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b8eea1b8-e273-4204-af2d-ca3d7ec7ce6d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:18497f2a-44f2-4856-9784-2e9424d49749 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c8b39f9-0122-41e0-a839-f5c53d5856a6 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:80fdf013-4649-491b-962c-7cb5963ed0b5 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7a39e3fa-7b3c-4477-ba0b-478fd9d5519d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:378e84c7-ed77-43ce-be10-b0163cd44e87 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1787b7dd-ad2f-4f6e-9630-1f9a141c662d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b11a6dd9-59f0-476e-881f-1f9fc66944aa phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59c8a480-601a-468d-a5c9-fb3f0c860b99 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f755bf41-5209-4c49-94fa-4d48e287ee8b phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aa4f61a5-5399-4f1c-903d-cc7d6c74b94d phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:a720608f-2315-4cb3-a792-44fc60c7a2d5 phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:5475deb3-c904-480c-b72e-e4988c4cbf64 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:ec8ae03d-ff03-49ef-8f03-db05c17a0535 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:ff3b7be7-8c37-4474-98df-4020dc9ea133 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:f3d03609-d4aa-44e2-bdcc-2031fe7a8646 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:23e3b307-8d94-4a90-bc1f-1ee765d24f5e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:0a5cbc52-f8f6-430d-b4b4-11591d4c2d4b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:3fd7f478-957e-4b45-9efb-d3f8ef778bf2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9645b223-283e-4387-bc68-7606c9377231 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1f2e5b6f-3212-4720-ab36-52c77636d0cc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1c727119-b496-4b06-bd05-c0c5d9cf91e7 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9cc82ff1-4641-4719-8215-7dd5b10e2e00 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9d040cd0-63c2-448d-9045-70facee629b6 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e89a2d10-f372-4411-9658-23038a6c54e3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1f1f9026-2a36-4d25-b8b7-41a6613bd7c0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1bea5c73-ec7e-4579-97f3-d7093f087c29 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0f3ebb55-a0b5-4237-b095-6380a4dfcc85 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f49b797b-5144-4e98-98a6-f4a3958ea124 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1c78dd79-892f-4d11-8f64-bd714f1ec584 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d08ff432-7b3b-4a94-9968-4efdd91d0c21 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4d9cc969-b5c9-40b5-b750-ce9a9857e142 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d2cfd6e5-f42d-40bd-ae1f-edc428f398a4 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8bfe3077-3d97-4cb1-ad0b-77de812c67c0 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fb9782ca-fa42-4be1-ab4a-1a39a3d1a98d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bf7bb907-c34f-4da1-bcc1-5121fbad71dc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b131ea2a-8bb7-4acf-8b8c-24541c0e9276 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d4dbe1e7-a0f4-4f2f-988c-a968f1e1d384 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:66f7932b-08f0-4077-be3c-859aea4fb34a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:60b42d1a-7d2d-4538-998c-16bfcbb0ad6a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b33130f8-6bed-481e-96ed-eeb86aa50bea phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:2c3646b2-1e6a-4a42-a6ce-e563bae0aa37 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:626c6e44-8fff-4d26-9776-2e5a337b2990 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:63ad2d32-359a-4012-8491-c2236065f186 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f1cd6682-f8ab-42f1-b0de-20c5013109dc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e14f1558-fb98-4252-ad7b-a59c11d356f9 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3ffaedb8-0754-4c74-a172-4cf06215dd75 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:afa59814-87cc-4cb7-8507-5ec99a574fb8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6d059910-891f-4d00-85d5-7b27443d3daa phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1ee629f2-0763-4c6e-b094-274f704248d9 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:9f00e00d-4795-4222-81a6-7f67a4c62a2a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f5186f88-7903-4e14-988b-acfb3f4cf11d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b1cbc9d8-455c-4b09-aa5c-46cde55aa11e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3e68f496-6fd7-47b0-9639-43c43dfad3be phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b3844a17-130d-4eb6-b6f8-6cac6ae1a822 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7229a759-861e-4f92-a929-28d88925578f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:30fff3e6-bc94-4189-b19c-ae6e6caab178 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8339b1bb-9f6c-4a98-b5cf-ae83757a8d68 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:599b86e6-c2ce-493a-ae91-d7d61847ed72 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e56b176a-df7a-4697-91f1-1ec19314cac2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5afa03ab-3fa5-4d4a-a417-65bdb26ea17b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:277b2bee-53ac-49d7-bd12-aded636261da phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0a94a714-a39d-4269-9f3f-6f8b150bd9fb phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:28fe0576-b0d9-4b68-88aa-b0530e3dd078 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:03614783-f2d5-4363-96d3-ad6899d114f4 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:baf16aa2-4b3a-420f-825a-171332d26255 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:294f067d-1b7e-4a28-b2e7-3892eb0943bf phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:85dde282-680c-4f1b-a63d-6ee920296f43 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:33859f0f-2cb8-44cc-b464-3aa3309db923 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:30856a28-c09d-4d4e-a0c3-80d5732e1768 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a4c50429-408e-41b6-9c5f-119c45650e0d phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:652da5c8-c31b-4045-99e9-06008ebde479 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e5ca2a6f-9e02-49d9-9a39-d5ed5f2017e5 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:789cd03f-9959-4fb5-b8e2-d0deed9acdc8 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1c4dbf81-fd93-44b1-b8c7-1d7c7994fa96 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5d971261-2041-4b82-9055-9cda0e0642c4 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c7afd1b8-04dc-424b-838a-8c7d52d85d10 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c942fb97-c39f-4e62-8ba1-dc46f9531678 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3d80c238-7c6f-4b31-ac87-2e69a348ae81 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6254697f-3c0f-4341-bb90-c889f35bc14e phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ea2917a9-e6c9-4aaf-91f0-d1905a943de5 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:31396f35-b2d5-4cbf-975e-eaabeb588f89 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:da1d6bb7-ed26-471b-a08d-1d7ce4d3dcdc phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:92763c73-1f25-46af-8957-bb86eaea5c90 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:dafbae50-ea32-4c2a-b369-5a560b1d099a phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6d241785-2cfd-4096-aa89-6ed9c894f54b phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:520572d7-dab9-4794-bff9-e8663fbf2f7c phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:259d2492-8d93-41f9-95ae-9f3ea3178d35 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4c1b0888-17f6-424c-941b-213613c3cd61 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:99d8ce8e-6871-4739-8233-42d956d0b68f phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:91c119b8-005c-4fff-8580-ac13c24a8d85 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a8ebf04e-170b-4666-93ad-695f48aa38a6 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:db5b6c1f-de01-471c-831b-50a8d047c2f2 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:793dd0f7-8ae0-44d5-8e50-12e50f4156cd phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:392cbfed-e68c-4980-9f92-b8dddded3ca3 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:96462c98-7f0d-473c-a0a5-517bb5b21c91 phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:913443c8-4221-4e6d-98ff-84a82fb4e8f9 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e0be1f41-aaea-484c-a349-0b5f8e550f25 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:3793aeb8-a70d-40d4-896b-aa324949458c phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4fc4a1d4-df71-4b18-bd86-c6f294c2f4f9 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5a2ed3f2-e5fb-495a-817a-f975ac430412 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:11bcdf31-5735-44ab-a637-51b68f9f99dc phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:70004283-72ad-4875-861f-5e4cdfd4ece8 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e4f797d9-87a5-42b1-8545-df35a90ee855 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:18941539-1177-472f-aa13-7f9631556539 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ef84e6ab-6dec-4ac2-8f75-fee35f09643c phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:358d7d9e-1fe9-4bc7-90e4-a57e9dbe4204 phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:94b5a530-7ff9-4a72-8902-1d9c4123fef6 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e9553adb-0597-44e2-bae7-96e4e9ebb5a7 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:63beeb6b-55da-43a5-b8c0-2fe57e93c636 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:82b87ec5-ca18-413f-ab36-50856bbd393d phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1b09c86d-51d0-4396-b478-014237da92d7 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:38dc2964-6b13-46de-8526-71c6658dd188 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fee08c1f-9687-4c44-b92f-07efae077ab2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a3e8b468-3f50-4910-8cef-094a8f79e498 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fe578694-d1e5-4dcc-8030-2a7b2d19d045 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e31ba2da-b557-4b92-a9fe-034427feaa8b phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1b4e40f9-7c33-4bc2-9811-b21230573d7e phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0d393a2a-e2c6-4bbb-b391-72b6538828dc phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3ff44da4-03c2-4ab5-a1dd-254b2f746d52 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2337790-219b-4420-94ab-5f87934fccac phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1d0e4aef-4c69-4533-9506-a9eaa1e11bf7 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7e2c377e-6c8d-4442-861e-84760db6d5d2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c3abf3c3-e2d2-4aa8-b52a-0f40df8fc7b7 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59070467-c380-4be1-a922-7505d04f25af phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:636e138c-bba8-48f7-a8cb-4142f28acca1 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:82cf53ae-2b63-40c6-a2cf-4bed60e79b86 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a40f071c-853f-4b41-a440-b6395847e0a2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72ff53b2-1f09-4e2a-9cbd-b52e392ea1d2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9413c7b6-3b62-4306-b0f7-856516b60ee4 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1e9a0fe4-0b67-4b39-86ff-d05c3643fbfc phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:24030eca-50cc-459d-a716-1b2b8be525c3 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aae3ac66-4440-41be-8c57-171fe38c93e2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:91d737fa-8ffa-471b-b41e-8ce9f05d4379 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7409cbea-8d3e-4131-9031-d918c778424e phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:96d4c73d-9673-4e50-a038-189f7f3e9502 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e094e937-9f0d-4535-85de-87edbde5d1df phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2db39ac7-9d70-411c-b5b0-4d4d40a075ab phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9dcbcc42-d19d-482d-94d5-2eb339e1267d phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:524be54b-075b-4030-85ed-62884baab715 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0e80a4a2-4330-4117-993a-f6eccbb6005e phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcd322c3-7f75-4c5c-aa76-27f4a9940eda phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25be5959-82a7-4880-b5ad-97f60eb97229 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aaac4992-c4e1-4fc7-b849-34ada20138bb phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:351c938b-ca6f-4856-8cbe-347e7ee2f830 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:584a44fc-f98c-4a2e-bcea-2e622a751a07 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c47eabb9-c050-4b09-bbb2-520a8b37e6ad phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:09a6b867-28b7-4c84-bc2a-109f2e60cc4f phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:77fd6f58-0544-4dcc-8f26-cc889f615537 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5f4f87a2-d030-4bbb-9198-65b33187c270 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:38dcd071-c9d0-42fa-a473-54561c5dfebb phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d3146b13-6d5e-448b-aeb7-ba7cef353f7c phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f1992468-9e95-414b-8e62-01ddfc6f310e phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0c2c19db-81a7-4909-943d-a6fc7fae1656 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:66986b7d-8ab2-41bb-a611-4e3b1b4efae5 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f6a5f8d-639f-4029-919d-321f48188b66 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2840255b-1529-4cbb-83d5-114a24999380 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72f50277-1079-4b5a-97a8-70df27efd361 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1e7480c6-6c4b-48fc-8994-6079d07b50d4 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2bd08cf2-27dc-483c-b685-b734b104cfd2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eb77080e-3727-44a0-b9ce-3aee67023507 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ff49350-f2e2-4632-9602-686c8d100ff2 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25b41e2f-a612-4780-afee-4e49f647e8c9 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8173d792-bfd0-489d-922a-6e8885c24a39 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f3649003-96c4-41be-a969-9ee8d84e2bb3 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9e6a56ab-16a4-4ea6-91fd-687c6e13e3f9 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42a3b5f5-78b0-4c6f-9d99-fed5560504d6 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:059de502-4b94-4955-bbd6-fdf14a6d56ee phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bde6516c-07dd-43db-8c0f-4a3884f93e0b phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b871c83-9360-466f-9419-e63dbd3f353d phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3570aee6-41d7-442e-861b-dc5553f23441 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e36ebc85-c1e8-4d85-9424-d942b2dd1e11 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b7e3606f-386e-4932-938a-6974b842e2ad phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7aecc791-c834-4e4f-883d-4fdad9f0f5a5 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f12d4edf-ed44-4568-8cc8-939865bdced4 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2c525d6e-34be-4b4d-b502-937b991ccc47 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0734a051-0902-40a1-bfe0-878ce7139264 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:247eeefc-f7db-470f-a077-31207766dc31 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:28a42b55-9029-4441-8a2d-b183501153b0 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dacf1616-3d70-40d5-9203-c88322e1cf1c phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:979d01a4-c58e-427e-ab3f-e8d2a649d10b phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6835216f-bc72-44ef-a28f-9e9fe060939d phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:20f5c726-fe54-465a-bb56-f1b56ae04414 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3504665a-6f76-4a53-9aa3-dc39aa8bc0a8 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42a0600e-e7aa-4a0c-90af-283abdcb01f9 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b56b0cb6-bee9-4875-8708-59bea0246bba phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d842e260-205a-4769-a7ec-d7c6dd6f2100 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f6e09f73-f551-4264-99ed-ee928f9da5c7 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4458452e-3b43-47a2-8715-96fefa405684 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac491bbf-7128-4104-84f5-2c9f97350d86 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1653ffc1-3e3b-4a1d-8872-5d17735c6b0b phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:43d487db-ff7e-4207-a9d4-38d30c28c129 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:59d87214-8b6a-49a6-afee-13a3d8fee00e phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:06660750-2697-40d7-aa3f-b16bf39f12d9 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:26fc7cee-4ae1-4cac-b6b3-4cce6daa4cec phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d96809dd-8863-4c72-baa5-7dd04e94927f phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3543c012-f27b-4b92-a9e7-80346441e4e0 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8525b7af-a50a-4067-b606-019e69c9bf59 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:35b5ea85-0f36-42a9-b467-825a41520b36 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c149d109-a2cd-48c1-8a2d-cdec6788ec7a phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dbc2142c-dd39-4acb-bd45-fdca3286b8b8 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:33c2689d-bf5a-411f-a5cf-f6105653b549 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:93b8470f-362f-44eb-8776-1d9cc0ee1f09 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65d77ef5-3150-4abe-82c2-6896ee74ec32 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e5a6d1df-6861-4181-9eda-e9de3ff77885 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b9fd79c8-48f4-4a06-9bcc-9f3ca485eb14 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ddab8cda-6dc0-4ab5-9bdc-e5d4d58c5c91 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dd553a56-34d4-4415-8ae7-43bfb870fc89 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:642cddc2-adc9-4714-8dfd-837819b37b48 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3976f0aa-5ec9-4be9-a808-92bb68c83972 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ea0a9159-9338-401f-b290-1f80fdf0df50 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:2bd2f0a3-8040-463a-ab11-63dcab555bc8 phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:335d02ab-d654-4681-a870-1db6df46c95e phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:433980e5-6e1a-41d8-ad18-bb6590f2c1a7 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:222a8a19-edf1-48ff-b7b0-4bfcae7a1824 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b16d02e4-5b01-47ff-a2c5-5a01c5594abc phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cd662302-5d60-4858-922b-7079b9bb757a phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:65e507a8-a1c6-44e2-b10d-cc84a7774670 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:eb67a533-8a64-4251-abc3-da6349874a9b phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ed1b63a3-1124-4066-a7bf-4f9eb70c93ca phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e9e7e8bb-f6bd-4e13-a2b2-2fc86cda8ad1 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:64271d95-1141-4d96-aae1-b900bf9f452d phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:138aaa3d-88bf-49b8-b456-1d6d1ff2b727 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ea458048-4895-4126-bf9c-7825a3cf129d phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:98ca0911-991b-4729-9b28-5cda2b9be330 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bffb2a46-ab69-4d9f-9b14-c4a92b6b1ca5 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a7b6905c-1253-445a-a13a-825de9c260e3 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c1300293-17a0-4a8c-b6e6-dcbdad60421f phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0d41220a-34ac-46e2-8ba7-aba86fae5cb4 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:952e94b9-51b2-42a4-9745-df60dd63b0c3 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7b9a9c8f-5ed6-469a-84c3-ae3a6cf871a4 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:15071e18-d5a4-48fe-8e92-572b9685b1da phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7f89c2d9-58c9-430c-b34e-8e0e8410172c phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c296f1cb-6095-4130-b5d6-f8c893ea60a9 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3d36c71c-0437-4cfb-abcb-8d160efda7ae phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:86a52479-6fb0-492a-bc12-364b34ac3c88 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:15b28b90-1c24-47f5-b410-2ac540fd9678 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b102192c-466d-4cd2-be57-c9cf579508b0 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2af0ab2b-b49d-4be2-93f3-27dfa0998ddf phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3e6758da-6f1c-41ab-b8c2-4059b93828b2 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9564c9d1-abe8-4303-9667-00c5572227c2 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:dd0c948b-50fd-4fd1-aea4-72829ec1e8be phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:65dcce3d-7f5e-40df-abb6-5c19e28c5808 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c5787cd0-d9a4-43e6-9ad1-26ae7398a039 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cc0c0582-eaf8-408d-aaf9-b8b74bfc4ee2 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6fb38c40-cbea-427d-bfab-297700d8f257 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:780fa963-8fce-420b-b259-d6be2e99e3d3 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:53b48d24-7561-4366-a30c-5d6df7e56a6b phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:54201eb3-640d-41b5-aa1e-4f0cd849c619 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d8c93266-53e7-46a2-bd24-6a3effa96cd3 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b1ca7ce5-dce1-4eb0-90e6-7308e1ce7556 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fd6c1e27-970d-4270-b370-c5637855adec phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fa946fdc-5559-48ef-9e6b-cf75ca247c26 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:ba001b22-2dbe-467a-9be6-c35182c0dd77 phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:be4e2382-e526-4204-bbf9-8b04534f1cbc phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:979713c3-7dc2-4241-8396-ed1cceb43162 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:5b87e7df-365f-4b16-9be5-0492066dca5c phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fac06f64-7400-4cf5-bf1e-301be6d51dd0 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:267ab6ba-2a3b-4119-adf5-e70f9f9ee9a9 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:6fc0c474-3c99-473b-ae9d-e0ec3b345ad4 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:99dd23f3-ed82-4655-ade3-cf5e50c07a78 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:0541f64f-5aea-4711-a528-a645b0255a8f phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:a70f8222-118e-4ffa-810a-409b957de5c3 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:104ffc00-4a83-45e6-b024-4f54131a0149 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:c8722092-71f4-4d14-9ce8-d162e0c47f61 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4ab942fb-f8f5-40c2-94cb-2c48242dcd1b phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:72e5df7f-d350-4d2d-906d-f2011604471f phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4c6be6f7-4cc5-4592-94e2-77c2800cc22d phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f1c822dd-1a2d-4511-a3e5-7482aa454f0e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7de27352-95c6-4578-9cfb-5ea9112679af phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b73cb9f2-b23b-4627-aaf7-daa2e9d47756 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e2164ac9-3e11-4464-8697-a229587696d0 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25f3fb6e-4f7b-4c54-926e-fbe44ced4d99 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:68502ecb-6f5c-44bb-9256-52eb731623ef phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:838cf5b5-f95a-4e52-9368-814493b3d883 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ef8a1237-9d04-4114-94b7-2ad13d5f09c4 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5dea51af-3f39-4473-9e25-6b552c2a5b14 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:334308ad-580d-4aa7-b251-886f8f1a2227 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2b59712-9917-4fe6-aec8-a8284bacbf5f phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:67003432-7269-41a6-a568-b7132a564442 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:738df131-2370-4a63-92da-6cabcc1a843b phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:555d4364-55f3-4d3f-b7ee-5be8eee74ca7 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d2081001-a815-46a5-89a8-c90636270a30 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:79b62014-c654-4d3e-834f-35ff5b5c95ab phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c26cbebb-28a7-4b06-bdbd-03bbe85238e4 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4c197f74-e492-4ea4-bfec-cea267530907 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3858da56-9a2a-4c56-b819-5b74fa0408c3 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:37e92e17-5748-4f30-ba07-8234f578c711 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cf3c5b89-8c7f-4da6-9d48-b3c89752ac7a phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:001a789f-8be2-4f7b-a5ad-5519bf9bf9ab phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:db5e8164-1924-45de-8682-323376f87dec phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:962292c3-c6a6-429d-baf1-3f10208e5be0 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:47b3b9b1-3a9c-405b-bab5-34f3a6fd082c phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:70c22593-1779-4e27-82f9-4493c20b3e98 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2da703cd-652c-480e-9fc2-8f07dd339ea0 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:567de757-e52e-4424-bdb4-173eb8876cf9 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ff920d97-3760-4b2a-a07b-ca17787b4e12 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6e0f72d4-20ed-4522-a601-b67fb4d5c48e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:da354dab-df0c-456d-8e82-5dcce0ed34e6 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b1d6cf8c-fa0d-4e11-8692-73d278b70b3e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:19b8e4af-81cb-410a-bd2a-43c7cc6b233f phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:90fa0be9-e723-4fe7-bd36-6ba44e44faf6 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:03ac6a08-8d6b-4b4a-a0c3-c4ae04184335 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7137034e-3ea2-4967-87fa-5a4f445fd043 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:574b7fe4-dfd0-42ef-9899-3a87b770d8a4 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e178cc84-dd84-40dd-9fc4-fa1c9bf053ca phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:06adbd4c-062c-4b43-ae9a-29477df181f8 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ee73e62b-f982-43e3-8f70-3562e389da53 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:854daa36-5e8a-47bf-ae52-0904b14fedaa phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4ea71a42-391e-4f0d-8799-da1997bb933a phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fb7462e4-bb28-45f2-884e-6ec9e27fe4be phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2897aac-78b9-4fca-8e77-593d82f7c3bf phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7651ae5e-c2ae-4855-b51e-f5aa4c279c87 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:64ba351a-99eb-475b-aeb9-8c923334d6c2 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8c2b0ba2-bbc0-4ada-a7f7-31a5edf649ce phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9aaf7343-9556-4425-addb-10ac207b89f6 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7be5681e-33f3-4324-9072-1c04d7b2170e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:37817aa4-393a-4fbe-a3c6-a8a72b1fedf4 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9c0de1d6-1741-4596-82a3-123508043184 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1fe83e15-e4f6-4448-94ce-0f0ab7dfbc30 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c37f934c-2e0b-4bd8-b2c1-c2e502c11e8e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7ad4140a-62f1-4162-b20a-9d4bca6a3663 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ef335381-3875-42d2-867b-b7cf6cfe16bc phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1b63355b-1d25-43f8-b183-1d47a589b2b2 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f8d51948-de04-418a-ad12-29143a4e827c phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:962c9867-3d44-4e08-a378-ee6b8e60cd08 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6f2abe2-5125-4dba-903a-446c30dc03dd phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f78eadf3-5baa-4ca0-a891-5971c52df4ed phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2d6d61f-1fe6-4a83-a5b1-832e0836945f phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7fbbc72b-45a7-4e36-be0d-be03ef561072 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c0729e99-abac-4983-b314-945f6f3e7a32 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7ccfcc9c-de53-4a32-9045-0e89f7f0fb16 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3f295fd8-66b2-457c-8117-d474154b17fd phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:eeed0188-abe4-475d-a8dc-f84fccfa88af phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7712ed16-da21-4877-91a0-c630be9af05e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:509d49c2-60a5-4690-a662-217dc97cc986 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e1bd5296-ea30-42d9-9485-57221112175d phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e704be39-6423-4be8-87fc-810e80b72784 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:76a265e0-9df0-4421-abc5-8e7b1a19b13a phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8f2774f6-c829-462f-a13e-f0167439f8c1 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6064ce28-1b61-4f56-b2ad-8e4968710147 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7e85a930-6161-4ebe-9b85-1d5841e9031a phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:42b319b0-a35b-4887-87d1-109c9567ece3 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ac5a93bc-20ce-4dce-8c77-d25a0ffbf3bd phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e45cf572-5f94-4195-9812-bba44ab060c0 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ce81678f-8ca4-481d-9bb9-9edfe0bbd62d phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c00ea394-9852-42eb-b3c8-3c82f64f8beb phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ad30272-a488-4e89-8a91-c095e058cb65 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fc358119-2711-49a0-8b9e-556d47c3f8c7 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22b83af9-a3f1-4f9c-83cd-8858b01331ae phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3b38a734-7a72-4330-88c5-e04c84bc1a40 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5cfccd69-3e78-4244-a8e1-3b27c854efe2 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d157a6d6-19c4-4dbb-b8d8-227ca954640b phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:220c74db-7ca8-4086-a887-0962363b877f phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ad812fd7-b2c7-41e2-b996-1559ea2f3fac phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75a117e9-08b9-4dec-89ae-4728d423dba1 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bcf89658-69ba-4788-b1f1-72663aa16e7e phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2e26d44-c2ae-4f1b-addc-f9ac5b1cb3f5 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9b3283a6-554b-49f5-9ee5-049e1054e966 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:97598e62-7696-4506-b8d9-9d6cb14606ba phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:48a65fda-7b18-4c31-a106-579078653747 phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:2bf759ed-9772-4760-bc05-ed8af75c836c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:38740982 uuid:e421a082-10e0-4831-a8ed-6d4ba4457f6f phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:993c6dea-b5a4-43f5-849c-4aff58e46372 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:99827061-023a-43fe-abe5-3c7151e3f135 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:874fd10c-87af-409a-aa77-89160c3fb503 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:eeef8a2d-afb0-4bcd-abb8-7a831bed22a1 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:0f9fd008-9c02-4087-bacf-e5470322f191 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:e5c21ecd-c311-4f2a-9206-9c79227d8c89 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:630de03d-8f87-4d9f-952a-ca0a431c07c3 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38740982 uuid:e5129d2b-293d-4137-a7b6-43ba812d6e97 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0836e9d4-e0a0-450e-9643-36e6bc2cb21c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f020bfba-5b13-43b4-b4e1-be0898dd2bcd phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b139dd5d-bdf7-4042-a3d2-5703062fefe4 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5169c795-a7be-41d3-9ede-afd5e79fc02d phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:c87ec959-eb3e-4be6-ba03-b9e7508216bd phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:60953f40-ff96-45ff-be69-715e1ddab6db phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:28f8aee6-23c6-4563-bae2-2c6a4ac350f4 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:786674ad-e264-4132-8e6a-317621f2e5e8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8f8903ee-966f-4fb5-bfac-7c2fb75b91a2 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f823ef3c-f728-4f5a-bbc2-a7302fb92e67 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:841110b8-c1c0-4d95-9c2b-7bde23988a95 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b49aed5a-ae4c-479a-afe5-ed611b53e407 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4de6c202-b5a8-42b7-9458-741e75344b12 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0525745f-695d-478f-8053-f9cd17f922ed phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fdb2aa94-145e-42c4-9678-b5c37ca981fe phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:655af864-6dd2-412c-a5b9-e2cb3eaa84eb phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f03b97f1-7c7d-47f8-b643-c6a79601a700 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fe34dcd1-41bd-4943-8b1a-1262757c49fc phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:629761ec-2b45-45c6-8df0-a22f8cdda0ac phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:84c015a9-2c0f-4996-8846-456f83bf85d6 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:b2c99430-279c-46cc-bfd9-ebee64f5cef9 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:127fca0a-9b9b-47f0-9cca-73b68c04eb02 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:890659ea-1001-4696-af75-22b243c8100e phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:69975e13-e500-4546-9f8f-6c4fec21875a phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e68040b0-9f14-44ec-82cb-df0eaad3a66a phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:701d4e85-0d01-41ce-bef9-4ae34445555e phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:f62c293d-ed69-4777-adf9-5e73d7232582 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:bf8f4a66-21e8-4f43-b29b-4d5ddb34ec69 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:0796579e-a2ac-44e6-abb5-f104ff9fd836 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1227b7f9-cee7-4e53-b500-a4f13eacf4f0 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5d165978-7fae-440b-8fe6-b7c995aefc84 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4bf56803-096d-4ac4-aa2f-726ff2eac728 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:83f490cf-9bab-475d-8425-0a9f9994f812 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:fccf6eab-c5de-483a-b09c-86bf311e7e59 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5a7f158f-b400-4873-99d6-0e358804ff5d phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8f2d1c1e-a9ba-4b17-a5b0-c6e545abb4ce phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e414a60c-2d15-4bea-b2cc-31f8b035fb37 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d352e8f6-b54b-492c-b5c7-fc8009a3f441 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a248e239-7743-43c3-badd-cf2ba6503d6c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:93324a94-e699-4dfe-85cc-9ea7d032dcb5 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d2a3524e-d9ef-49f8-bc07-d82075ed4b0e phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:319cad38-33fe-459c-82e3-2912480f4d6c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cc217989-16a1-4452-8bd3-617a50446bc4 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:08a6d1a8-76ad-4a52-912f-99e9f00a7800 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7be0ee1c-faec-42e3-9478-7dd820b1a9f6 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5b610916-75e5-475d-80f7-e9484a52b4e9 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:631bf7f2-9a52-4986-ab1e-48032ff83184 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a03b6d16-503f-43c9-9b14-a4e2f04d5bad phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8e95b91a-492d-4db7-aaa0-d51c277395e8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e619982e-885d-4c4d-9b24-47ece4eae93d phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:3b512c63-0df8-4894-a4cb-8fa637b84ef8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:e34822e9-fdb5-4090-9bc9-9f5c47893d35 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d508bbba-499f-474a-888a-09e164069f47 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:54f7f70a-ac1b-4104-9262-f494d2bd24cb phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:8ef49c28-d34e-4774-9a17-405b37cfb7ab phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7562c398-dd61-4395-a17e-9b6620933a59 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:1873e8cc-ed63-4434-8a1d-9320f2364ba0 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ab958837-fc23-46b5-9f7b-89912c833db6 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d8913ad5-5243-42af-9dc2-d57306fd91f9 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:39dc5f1e-b82a-4c38-93a1-b372fdafdc86 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:7c6bf22c-18d3-439a-9e60-4cc9e41d6571 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:20292821-165e-49fe-941c-3d87316a54d6 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6d579b67-b62f-4fb7-9720-f060cd4cc37a phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:4d4ef64c-ed5b-42bf-aacf-94ea3f7c9a7e phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:a2c46674-c562-4bb6-80a4-50f07206d265 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:d83b13fe-cbf3-4d44-9921-2018bfc76d00 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:ec1e2ff9-441b-4b78-bd8a-b9a536199fa8 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:57584e0f-b0ea-40fa-9575-43c207bb7a83 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:559bc5d9-cec6-42d3-ad94-36bc61967055 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:16817046-2cc3-4f1e-a0ec-b664825427d1 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:48c9e1ff-ee51-44b8-ae9d-2f3509862b0d phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:5f0c0ff1-6528-4b1c-addc-c74c820e95c1 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:cfc69038-9fd3-4f3b-acb6-283c95933814 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:409c87dc-ebea-4f76-9fb8-462883a4e51e phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:95f8c20f-6d32-4c02-9d53-9cabee603286 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38740982 uuid:6e016f40-d42f-4ac7-aede-75e626ddec6c phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:b31da72c-25cd-44d2-941e-1840e1979db7 phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38740982 uuid:2010ecf5-6713-4638-b164-f8b6d14bac44 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:8abe3b81-f9d6-41b6-ae69-2b437ca0c340 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:f90f7121-e99e-410e-99da-ace7cbcc4c24 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:6c71cd6b-af1c-46d0-89c5-ae55246b34b6 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ad48fa7a-e221-4bce-9677-a87e2506a94d phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:bc081a44-56f1-47f0-8a4a-72fed5086ba4 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:cee691af-f762-4ee4-a0ca-c33a466846a8 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:d4ec4f02-db84-4710-818f-216578eca310 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:0cc709b4-1e7e-4095-9653-aa0d592baf39 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:e109cb69-24b9-4fdc-bf6a-62289bdc5a77 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:23437b1f-3acd-4f21-9514-2c5deaba1d70 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:12a4f8a4-f03e-4061-a0dd-45a6a2eb8875 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:7e61a2f4-7fa7-4a74-8510-12587361ed67 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:b1170772-5898-4828-b461-5a6145c47f15 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:381c8768-fa3b-442f-aa1a-b205912f0e5b phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c2342c2c-6682-4b5a-bf48-284a3d8f1100 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8215fb15-8283-49cb-951a-507dfaf8f490 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aadf4bdc-95ab-47c0-bc11-1de3ebfc1646 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:26f8479e-0fde-4538-84f6-27b3a966e888 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f24335e0-dad0-41bc-a3d9-ab3bbd6fd0ee phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fdc612e0-df82-4b70-a6b8-c4713150183a phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d4a83a1d-3ba0-4622-8ac4-0d7391a4387e phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a8880cdd-5f64-469b-a215-62dcb0e3db59 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:39f6fb2d-a9d6-45c1-ba96-2defccd000a7 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f800607f-6cd0-410b-815f-d648af375ba5 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:de3ccfaf-2339-4ee7-970d-fcb1c1127d40 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1fc35f9b-9526-44d2-9a19-94a09b4d654c phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8de50c20-3379-477a-85ce-fb5548797326 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9fba8184-7efb-47f0-8531-86f2f6af127b phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aed05830-0d4e-404e-b31d-ab0b1eebb9d1 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c94f6725-3372-4d30-8165-3287f5dac815 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:56b05365-02d9-43cc-aca7-6a4d798a542d phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:56d33aa9-7f45-4efa-aa13-26995b789eb1 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8e89347a-49a5-4ba7-8e62-03b3c085846d phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7c7d66b9-4f12-4732-8d48-039898a72ba7 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:05519bd1-3991-4f69-8d17-d645054f013d phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a3453147-ed54-4a3d-bd80-1b9fd150bde0 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:322d49b7-d6a7-433a-b0fa-56e292cd4590 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:73af06c6-d376-4ab9-9eac-376cce372157 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:cb033ccd-68a2-4a0d-b5cb-e7ee11ec3beb phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:566d3fd4-1d4d-4c91-bd54-31dcb61e9ab3 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:2b6fbdfd-23df-4a2f-a9c3-c89a25ad0227 phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:ad70d83d-d132-4bc4-b643-c8d4a6d97c51 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2fc3e8a3-f7c3-425f-ba24-d8b235a9d0d8 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:4bca472f-5e6a-4f3c-a3f8-acbbcdc27e9b phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:4049aeac-7488-43b9-9463-226ecf359c3a phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:d25e0ba3-56e3-4c1b-9019-86f59f566f63 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:5b465cc4-d6b2-4226-9a1f-6588e8baf96b phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:869cf9fa-2bf7-46fc-b99b-8276f64b37a3 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:56ff4ccd-e575-4ed9-a23a-a28ae72afd16 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:8a771a28-9509-4957-8e4d-b9d1ace50a14 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:2434cc86-e679-4594-9c64-06ed17f0a97e phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5fb7b098-6501-4dbc-afc8-7f06ef73b3b8 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ea9a51c9-4f69-4295-b3a3-8fc25934b910 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e5d5a351-2ad5-4526-96f2-fe419628c305 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8f9d3492-ae28-47e3-aa52-5e334af22ff3 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c4ab0d98-7398-4e4c-a962-588dcc59620c phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:133b94de-aebb-499e-ba38-1ef467840d40 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b5d6d552-be39-4ac6-8722-2f448b946b29 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:155ae56c-8f99-4d96-a17c-4da3cd0964e1 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a50f2490-3818-4bea-a3fc-65bf9f01df95 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2c7eac3d-9134-4ce8-8b16-410c01b1361e phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:491562ed-b163-4bf9-8215-a4eafba707f0 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:b9bade7a-9d2c-4e28-9a0d-d92a1a689a10 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:44446be3-2640-438f-b86f-c9d7a2442f48 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f14eb3d6-fd01-4524-abf3-cff16dc8f6cf phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:069a3ba8-af1b-4b66-b110-5f25d97db576 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4845a090-005d-4b4d-bfc6-2317e1488bdc phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7912f539-3f6c-4201-9e21-753e97cc0988 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9da15972-6939-4287-89c4-1aa01da02e92 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:2582402a-734f-4efd-b996-d206d8ea6e39 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:425599e9-0d31-4522-bb61-3a3b3fc4dd24 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:0a2fbd31-d5bb-4dd5-892e-9a1f865bed3e phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:adecb1ed-ab7e-4e33-9451-244e20177d86 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:e1c47266-43ee-43e1-be11-2b3b2f184e9a phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:fa9eb97e-4992-4f33-848e-a1429a55331a phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1c769a29-fca9-40fd-a052-61e0c84a26e8 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f7887e3c-625b-410b-b303-262c6609dc1e phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4747f30f-f177-41d5-8735-0ce0a3ee6742 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:aed8256e-edd4-4587-a2f9-7595d74f7878 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:7cdff307-607b-45fd-bc8c-1ff443ab4358 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1b96465d-2358-4037-a9b8-01a84947f73d phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:686605c9-3405-41d9-979a-d39831d99148 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:19510c61-d759-4dc5-a53f-bc9038748630 phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:a05925db-8f0b-44d4-9ba0-324ae6487c35 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:312333a4-352d-4878-b27a-416cfdb4c01b phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:ceb9b6a9-bd9b-431c-a1ab-1556b85e90d8 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:616ece69-d8fa-4708-ba15-287ff42be9b7 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1742167b-215b-4498-bb24-dd4d350933a5 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:d626198a-d79d-481e-a0c7-90ac24f8f9f8 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:cb9960ab-3495-46cc-9638-54bb5e5c8375 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:bf92931f-7c7d-44da-a3bc-8fe4f35af0e2 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:91f3c7f0-f986-4113-8a6b-9cada9806590 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:4575fea4-a778-4467-8363-7848ad7c3b11 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:1dba7a8b-9531-423c-8976-53d76c45e29e phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f63811f8-89f8-4451-98dc-4480350ead74 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e64943dd-b5f4-424e-83d1-2823e802e42e phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:63fa644e-3382-4537-8716-1aa981852de6 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:38136ea1-5f70-425b-9b95-a38115259d71 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c3689510-e705-48ac-b2b1-e5c92e0c39c7 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a4edfc34-625f-4c06-b6ac-203a61514f13 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a385dcaa-b79b-451c-8535-ca911d0bd872 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22c097b1-8526-4a74-8400-eef409fd14c3 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e680d08e-5bbf-4412-92b7-0d3bff9700d0 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:930beade-f675-495f-a0af-339f903ff005 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0b853e70-0ca4-4c97-96f8-aa4b09822da2 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:75aaee37-172e-46df-99b5-3299d1869d08 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:054a2af3-b685-44cc-a33d-3809ccbae776 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:898e6527-7075-42d1-a280-87b717023418 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:06239af3-1249-41d9-bd90-2311f6c390e0 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5103ab77-8c52-4437-9966-70792964a99f phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:701ecf17-eef8-4162-ac2c-a2170f7b4c2d phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cb28047c-56b2-43e8-97fa-a6c5581e85ed phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:db9aaba4-710b-405e-90c2-4def7bf7b700 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4594abdd-547b-4254-a92c-8b25ffe1c7cb phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2497879b-f465-4ab3-94cc-506427ed825d phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:311a1a35-fab3-4fbe-8f33-15aca5c9a0ca phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b153bde3-59ae-4064-bdb2-b8170e7f9ac3 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fdd5682a-07d6-43a2-8d16-7d22e22914e6 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d3d37dea-aa59-4c9d-9625-116b1ba96fb9 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1cb77459-1b5d-4017-85f6-2ededcc67830 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:26557cd7-0192-485f-851f-bd7c3ad7f2f2 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:05a01baa-9468-4c4a-8870-f730cb5a48f4 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6b1c515d-66e0-4518-9142-e853044f56c7 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f4037283-92dc-430d-a02d-75f706c94876 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ed4d7ac-a00a-43a7-8c69-2b4f353fca13 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:26985723-3c3e-4e0c-bca1-baae1a0b2eb2 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:17ecb5f6-5093-451b-b997-753bea2e11c6 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a2b7a7ea-9325-411e-b2af-c16fcc89870d phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9dab6969-2de0-4e4d-b91a-7afba803fe7e phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:60d5ad43-de85-4f69-b9da-cb391a687b88 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e1dc6fac-f3ab-42f4-b2a3-9be8642016f9 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:cab98225-4564-4dd8-a834-3ded8809cbc6 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8e2327d6-b37c-42a1-88a2-45da35306c76 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f0d534cc-d04e-4186-b654-8210caa9cc6b phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b67f7ee4-f548-495f-999d-1d689d08817a phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:07590e04-35de-46e2-ae78-cb7b8725e853 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8558b858-2cf4-4c73-87c4-e949ed5ddb35 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dcefaed8-9fa5-4cb5-8b14-a5d89ae52d0b phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5fd4a353-e320-4bd9-ade7-9def79396456 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9f4c4c19-f502-420a-81e7-d59b72b859cf phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f89945a4-b17b-4fd5-8bd2-c2b2815a75f3 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c59df954-7081-4fc2-b8e8-dd3668076384 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0f017f95-5be2-4697-ae68-6044ccf0b09f phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2f3e2463-84a2-4b1e-b81c-5200c8f1a492 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4ce76087-9a1a-41e8-9c0a-b69c8742c9fd phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bbb44ed2-4a91-4589-8b13-7a814497dfd9 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d868a538-4838-49b6-b400-227e2ea8ce6f phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8a2dbe6e-4370-45cc-824a-9b31a709c9d0 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:02388b2d-ed28-43cd-b8ec-6f47d942e3a5 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:15782de2-3ab2-4e20-a31a-2ce5614a57bd phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a8eaff69-0c2d-4bc8-b75b-cac5e13e577d phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c6e1aedf-2337-4734-be68-b38567181dad phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:222a18c4-4299-4222-af0a-5b6bf8ede832 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a9aba496-2644-4cc9-a2c3-f958f15bd67d phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a43be7e9-5cb3-4c52-9040-0c7f8486f610 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:83b6c5b2-6b3b-4ee8-9cdd-fbfaebe851a1 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:435f19b6-2328-4343-8e3c-12712d400183 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ede170f5-5920-4e0c-a098-429d440730aa phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:870b9280-971e-443d-96e9-7353bf6ac2d3 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1c89eecc-f0a0-45f1-ac80-1c1b183a0cc7 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:50e09c39-7e76-4835-a0ca-3da5124d855a phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b6d5cb58-30f4-4701-a538-31bcdaf265fc phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:47fe639f-cf7f-4d89-9af7-cbf76eb7924f phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a735f8d5-deec-434e-b661-0d0870c354d9 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5589c4c6-8489-4860-9c2d-da3b6cc49327 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ef3df691-97a8-47d6-a08e-2f716288f836 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:848634d4-e047-45a7-849b-6d098d371cc6 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:63ab2189-ea6c-4e82-a149-ac70e52b3c4a phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:46866459-1c14-4831-b01d-d12987186924 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:235d0210-a456-44ca-be1a-7292be820c3e phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bc08b533-5d47-44a7-b68e-dae6b8683f7e phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:03959684-a656-422b-b059-435796aa1045 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4fcdfc70-5091-416d-bd73-0981dcdcb007 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c5087cea-b66a-44c6-876e-79a82f40e8e2 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bb479015-f18d-467c-92b9-35774f7f1a47 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6b63d780-8bed-4271-8bec-fbe4562aa9c4 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ddcdfa2-e21b-4a0b-88b7-f3602eaa016c phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e4debd81-32e7-4a24-b89a-b328c3950d77 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:921eca76-4505-4a52-8112-88d56ef46b17 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:01cce625-231e-45aa-b50b-0f759736bfab phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ba03dadd-9849-4aa9-987e-2709cbcb224f phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:86c28415-66ee-4648-a1c8-8001ffc7f087 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2d6a8ad8-a559-4658-a0d5-c046227f02eb phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b49afb01-d4eb-4889-946d-a3b2c70e0baf phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e0496238-dc00-48a1-b27b-d0aa211ea3da phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:126ec583-5ac3-49c8-a895-fcaf7a4f5f11 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65a22bbe-1918-47eb-af70-702b21e8897f phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:99cee145-604f-4522-90e0-018545d34b10 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:07548736-e9be-48fa-97ee-3b9514d88865 phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:92dc224b-38f8-4657-a2bc-a9ae053bb9ab phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:f7334d82-6224-4f25-9166-5d9eff15640a phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e328320e-0a9a-485d-9c32-3e1ab8a0ef93 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:fa31c8de-3317-4557-b5d9-13a8161a5940 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:2e03b9dc-53db-47ab-8e0b-c62fea4649ae phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e454a519-2615-411e-a24f-20bd5a5e9ecd phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:898bbdf1-01c9-48bd-804c-39912c66d18c phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:77d47d72-09f7-44d5-be1c-80acc30e3eb5 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:bd5d0dc8-1db2-44c1-9d48-c2676fda0f0a phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057029 uuid:e98e74cc-050f-44be-9c26-86a63e1c8862 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dbfbda7d-31f4-4245-92b4-617720299d9e phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:84f5b6fa-4aeb-4969-b853-c2af417e00e0 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9935e7e9-a7f5-41f5-96ce-872e2b71ec55 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3bf2a4ac-ebc6-44a3-b084-a070fa818eaa phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bf889bdf-c68c-4639-aa3d-363cd339174d phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b5eb392e-ede2-48bf-b775-24028af040d0 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:81e56d45-cdd6-4c69-a47b-06f13250147f phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7d472e20-803f-4a41-8563-eb97689fa9e7 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8848f7c0-a147-412b-9220-5dfb968bbade phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b5b6ca9a-1a0a-4af9-9abb-73572e7870fb phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0010749 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2af7860e-cb53-4fcd-b4d2-7a92ba6a5995 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1e51f5a9-a3a7-448a-8bb9-ce864a2eb74a phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0fef6d54-2016-461d-9c29-bc9493ddbe02 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:4ccd3a72-bca1-49b6-b955-feedf10b2bbf phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:25d1fdd6-3746-4fcf-a8f3-e2d3eac99cf6 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1fb41ee7-2d16-4a46-b7f0-5d4d595b958c phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e6998657-94a6-4259-a714-ac480e552571 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a7564b8d-4011-4f87-a766-63086ea3d4c8 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5d8b2ce3-832b-40d6-ad4c-ac6b134819d8 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:1b584f69-a819-46e7-aef1-1f65855fd97c phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6136906e-21df-406a-a1d8-fe512c9999e7 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b2bfbf7b-2774-4b68-87f6-24d106280b94 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5319d7da-923a-41ac-ae67-825c7cd4d133 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0011271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b047d53b-8789-4f01-a93d-46670ec9211b phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:79338beb-7fc3-4e9c-b157-230e6a3fda79 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c8e621f6-93ce-4d95-9695-6e8575d88531 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:35196529-6d5d-48c9-ba64-3c02c10a38f5 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:13399692-36c7-4e42-8083-517d6ba44d74 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:41037d79-913f-4f68-8723-cb0efc557f4b phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:503ab54e-d012-4a6c-a6cd-fc79bfadba6b phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e3a0127c-1eb1-4241-ad4c-ba548f32389b phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:83d9579c-6586-4282-99ab-6d68840b8c5f phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:aec87cbb-d531-473a-b926-9322afdfa813 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f806718a-4bc3-49cf-857e-db9b8d5ce202 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7192beef-5843-449b-9bf1-300e6e60a899 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d6b3f28c-bfd1-4d0e-a26e-62d481320bab phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dae06f62-956a-4c74-b997-bed4949e6a7f phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:da0fd166-8992-437a-8fec-2a311266f2e7 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0ff87707-a02e-400d-8ee0-c2deed008582 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:45378204-27ee-4c78-adf5-349c8c296211 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e91b0430-8c08-4389-8111-c8cbd83ee3af phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:543677a4-fb28-43e8-9551-0ab0bedf91d5 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:34a0ac10-49d7-4af4-b64f-c46c6f9f6952 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:989ffbc1-7a51-46ef-8233-905b739a737b phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:af871115-8b03-4091-8166-f44d84597485 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:70b857b3-6b56-4720-b6c4-60a95bf76412 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0389d08c-1eb8-49ad-89ae-be34838c4e36 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ceb7d529-18eb-460c-8746-8bce2ccddd0f phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:6f3e972e-58c3-4033-8121-4485ec392424 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:ef39c8c1-e313-4a4b-852d-63369b31ca25 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d888eeed-88e9-46dd-a867-c532c116db01 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0555c51c-d3af-4a88-bf34-5eb7eaf0fdd2 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f4468f1f-0f97-48ce-ba9f-7444c3b79293 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2c664fb5-3a76-4704-9af7-737280b75bfd phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:db37dd9d-cf91-4c56-bf88-1f180d0ad663 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b4fceae8-3057-416e-9903-f78193462402 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:50e8d00f-accd-484c-bac3-1daf4345c87e phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bbd007c6-021b-41d9-820d-dc51d3bab579 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:bc5bdd60-741e-43c6-b203-a184bd49d45d phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:7bcb50cc-6186-4b30-8e08-61a31ad69ada phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:72a5371e-6c4a-40cd-842b-adc3460583f5 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:8ae37842-0b31-4a9d-89ed-1df6b27b10e6 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d046beeb-f8cf-43f8-881a-34854f42fd2e phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0009836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f68c48fe-9953-4b3c-9599-4f8a57339a64 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2257e3ab-a1a6-474b-8299-b966349da3cd phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:283d6eea-8e56-4c3d-ad96-17a8a5bc1144 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:26833867-83b8-44ae-aaf6-c499184fa778 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f9ad0f7c-acaf-4d43-a0ec-26f909edb454 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c021418e-e429-4bb6-92e0-2b8a8fc71958 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0004442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:f25b96e2-ab1f-49f9-ab7a-511ae56f5eb4 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:fe74063d-1e34-4538-bd13-4d5b2f1b00a5 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:24d6b0e9-4522-43a4-bfcc-a40815c5ae0e phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:65a205c2-373d-4d6e-842a-8a8286a153d2 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5b099602-60fe-45ba-850c-e7b72f5c4123 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3755ffd2-fe5f-4553-9a02-43f99864fc03 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:31fc2dad-64a6-42db-b34b-5081467d6ff8 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:22212a0c-2359-4232-bdff-19acfd043382 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:632345e1-e677-4df0-9f5d-232f9246c3b2 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5bfdd5ac-927f-43ab-a1c9-a95418cf58b2 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:442f381b-def4-433a-9029-57327c65636d phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:b5e8f644-2b2b-49b4-a4cb-97077655bacd phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:0143e76c-fb41-45dc-9085-2b3367798021 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:2a876a6a-389f-48d2-bb76-d7c662e362f2 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:3b371965-a3b8-4f3c-acd6-cb59ea3dc303 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:512be594-0101-4447-95db-adcf8c8b4044 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:dbd64010-f5b3-49c5-bedb-efb61f13626b phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:a34abbc2-2acc-4d6f-842b-73c0a44da25a phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:9b4ada41-01ab-4d3b-acc3-737127fb81c9 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:74e7bfb0-46f1-48ef-bd04-35a4666fdf27 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e693db54-7d9b-49a4-ad09-b502f271b8cf phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:c3b03bb8-4882-4c89-967d-1411bdf87e82 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:5ea74020-d97f-4ff9-99e1-7926d013f1fb phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:e83ef793-f811-4f6f-a191-e550f70027e7 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:050a20db-f7d8-409b-bb35-2ddfeb236cd3 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057029 uuid:d6b5b426-1e4d-4e26-b245-3652ede6d208 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:0af012d7-2030-4144-bf68-e4a7e6beb0b1 phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057029 uuid:33ea9f0b-2e60-43ff-adca-ba96c537e4e0 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:47582ddc-9566-4535-82e2-8cb7ee8157cb phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:56991b3a-c85a-4e1d-8de2-012b1f8e58b6 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:aeaa2078-1ffb-42f3-aa06-308a90fc78c1 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:c942a77a-d1aa-49ae-b9a9-18e08ef141e4 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:ac83ebca-4b26-43cc-9e57-db5d155bdec9 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30679813 uuid:092f9a16-3d08-4b65-a3fb-03f2eb210d1e phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c4bc0232-2ccb-4ac6-8d86-7dd39e90da2c phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c7fc0c84-aed1-45a6-be8b-dfc67b31a3b6 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:20370e93-6e64-4a27-b02b-0863be34bdf7 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c3727718-1f1c-4d18-ad3a-882387f30d5c phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:135e57af-1920-4665-99ea-073cced926ee phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4debcad2-04e2-4247-b836-58cc994a3831 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:1047eb7e-f25d-4f52-847c-370d6ee6f2bc phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:ff1755ec-9f42-4c22-b0f6-ae9088320784 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:f6f51f1d-445e-47b3-9fc3-73e696fb1930 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:eeda48ea-7401-4b42-9609-ec6d45373c31 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:3c105066-0288-46e1-941d-59e7d668e0ff phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:6c01581c-fa6e-4ecc-a941-d28cea01c14a phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:a975fe5b-9f19-4670-9e8e-4d8d9a6fef81 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c9d55f18-70a4-4c2e-9fc0-75c0205dfd2a phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:8206bb39-9950-431f-83de-8dc05a8a3c48 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:c740dbb0-f4ef-4f11-8b9e-87118451694b phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4dfaa93f-27c1-4cc8-a521-b85b2ec24efc phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:d2ef4df0-e0d0-4975-8163-1629b2f2f7c0 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:5ca298f0-35d9-4621-9e63-45ffdb75c330 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bdd40cdf-5087-45be-a999-fba5b2ebed4e phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:4f15d920-8340-4335-9d5b-917b14446c5d phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:bdb6c0df-5f60-414b-a9c4-fe90f591bc6e phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:577af336-78c4-420c-aec2-5c42cb8b2871 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30679813 uuid:9f06cf0d-21a0-4769-91e5-b4f9f2dfc87a phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_disease OMIM:618089 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:8ed487fe-c78d-4517-be32-4a79e5ddc295 phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:has_gene HGNC:13590 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30679813 uuid:9bdd2c23-322d-4b62-9e01-fa60d8e23017 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:5a0e193d-beb2-4136-86f6-1d10ed4b845f phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:46c1becb-9d3b-45ce-a973-a0eec9b6ce85 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:d4b9d871-a914-41e2-a9b2-fb34d90d98a7 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:3a0e54a1-db35-4514-a0c7-80653ed8ee88 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:dcb3302c-b122-4143-a143-8277d4de5a5c phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:2db8b951-52e5-46fe-8031-be9d2ee56a0e phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:98ebd18b-e5e9-4d4d-bfe3-1f62d634e0a8 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:6bcfcb8d-fdb3-4f04-9a4e-ea1d0feb3f22 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:053ad85c-6b33-4faa-a6de-434ececa2cf3 phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:9a154a47-7d9f-4d6e-a5c9-0a63a351677b phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:1648f76d-58ff-42af-aa68-0ce76d0bdfd1 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:a6232c27-081a-4956-90f1-7fe81a26e828 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:5e49887d-5181-4e13-b340-09134546db77 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:b88113f7-80eb-4bde-88df-003c188f1a4c phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:08d4b674-ea6a-4346-9e9d-6ef2373534b1 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:b645d82d-5c22-4057-b088-d785fb9e2243 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:be11f3ce-8d4a-4993-9906-3efcfd390a33 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:8b7fcfb8-f2ff-4857-a9c7-85ee5365e4b2 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:95d419a5-835e-4bf7-b190-adeb644c8439 phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:b86807a2-0e79-47d0-9021-d580cabcdafe phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:28cff7df-f899-4b07-813e-c5ba0893381f phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:b03dde74-70c2-4e4b-a960-8c692991fd7d phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:6ed420e8-42fe-43be-adbf-a8b34fd52205 phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:b6fca2d5-d18c-418a-89de-fdc383aa97cb phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:f9c7f945-75c5-448e-9639-fa8a2c37f482 phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:1e9cc44c-8463-4497-9ca2-416c542d05e1 phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:dd95cee0-fd56-4db5-be71-38a3cf0d38b5 phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:13cab7e6-c760-47e6-9255-11947c5add27 phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:d1a58517-d205-4b95-8214-1b39b8e450fc phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:fced378b-a16f-4df8-b8ac-28a7ebdbf20a phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:a436f506-e79f-4b13-8e3a-181d7adfaa3c phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:519d6a77-595a-4e3c-852d-620a9558049e phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:6560a794-f014-4fad-9fac-e950dbafcd60 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:3c710fcd-be94-407c-94e3-b6f141064b48 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:724078a1-562b-4294-a1de-1cafa7da3fd0 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:8acbd42e-d0f0-4c61-8bcc-01abf88e085c phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:968f3aeb-7820-41b9-9d23-62f179485b14 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:7f996f8c-7637-4599-9090-e631bf2eb32d phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:be561ac9-54e4-4d6c-befd-ac79d93ff479 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:29076900-92ef-4948-992b-713141395d53 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:9c0b7b52-692c-47a0-a7f8-b4aa1029b57d phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:f7876cdd-b193-491d-981b-0dd4a213998a phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:4a881acb-b62d-4c84-971c-d75ea23d46e0 phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:af11af9e-fe7a-4a31-ae3c-3fe68bd447c0 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:bf2757e5-4caf-49db-b6c1-f299c571f391 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:d45fc4d6-f938-4a8d-b319-d87db4c63543 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:854941c5-0fbe-4e27-a471-da90b4deff4f phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:f15aa87c-3b6c-470f-9b5f-ebac4be98366 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:2c23a3e3-7f63-4c35-abf7-2c6db49f9192 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:1c4c20f1-19be-4a23-9431-09e3ba22f69c phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:76ec49a7-06a9-4541-a25e-86e1bc781cb3 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:85308157-4bcb-4974-93cb-92ce087f6e7b phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:8068514e-8099-4276-a66e-6341d1a1a7f8 phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:a1f54972-5012-495c-b63f-dbb562b5e425 phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:72778789-8ef0-4125-806c-9e44da933d7b phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:da6fce71-b3f6-4644-b541-a18adbcaed02 phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:0a2b8f69-d93a-4add-a377-702cf45fc151 phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:0b7438b8-1d9b-4633-8c2c-dcfbe71b056a phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:2f4545c4-96f9-47e7-a163-e4ddfa3a1c6b phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:4a938dd1-9ac8-4bbf-b43f-1dadbe3428e5 phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:b2f5722f-68ba-4fed-b75c-a767a0f2b7a1 phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:948bf052-7045-470f-80a3-e96f33d2f25e phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:fd86959c-5352-44ba-8b6d-96c776d1d135 phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:78352f58-6996-4105-ae45-5214316fdbbc phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:16867706-5659-46bc-8a55-a2fcbf6b6df3 phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:74bd8a27-f1a7-4800-9d8d-e785cabd0f9b phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:c7159e45-e60d-4504-bc15-252d5a9c0652 phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:1a6c6185-22e5-48e1-a8c0-9ce1125fd091 phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:c061afc2-3468-438a-bc24-0932594cfec9 phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:bee96e6f-4163-4b41-9ec4-5873fd7ce7d8 phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:5199585a-d5cb-48b2-9b50-9a3622b9ceeb phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:bda0266d-5a10-4359-bb43-edda8516ef4f phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:31a6a2d4-24a9-4e4e-8ffc-ef2f77506e2e phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:82fb5218-5c6a-4b09-b603-3261408f0961 phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:dc579697-19b2-47f5-bb09-c1d20572a6db phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:b76ca25f-4d22-46a6-8aad-575afc65ac67 phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:25085748 uuid:b09d86f4-d783-44c3-b355-e28fe2874b5b phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:25085748 uuid:5c23b7a6-e96c-4202-b166-f21855cff97b phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:25085748 uuid:e7208753-93ad-4fd8-a541-070bb6e865a8 phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:29d969ac-e8cc-4e82-a5d3-177316a30518 phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:d1b63a9c-075e-4809-b739-ae9311f8920f phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:29d15705-1c53-489b-bf6e-ae867c61e3c2 phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25085748 uuid:5bbc9816-52b7-41cc-b1be-7da91d9e5637 phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:25085748 uuid:97e2e9dc-f96b-4085-b827-8dacfae00fb5 phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25085748 uuid:a779c529-faf1-48fe-9292-282695101967 phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:8b06d19a-aeee-435f-bee1-b24779f368ef phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:c0bf3719-87aa-4a7f-b84d-7414ba922fee phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:55212313-5255-46ec-b30c-3ea69138e7f6 phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:ee63b77f-27a5-47c3-b505-bfeb7976ae56 phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:a095524c-7ce7-4849-8aa6-33955f255b0b phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:231dd8d2-48f7-4358-aab7-f63cde3b6afc phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:1b1ba456-eebc-4610-ad55-6d84d488faa5 phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:4cdc814a-31e8-49e3-921f-0e756a7e6731 phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:1019ba05-ff7b-424e-87a6-246ddb73ade6 phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:ac3accd2-69f7-48f3-b4a0-3f41da18c66c phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:49e4ecdf-0cf5-419f-9494-12f0288671d2 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:d270ee58-b9e3-43c0-bee0-449b37986f81 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:0c60bf34-5d04-4199-b3ca-c90552a108af phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:15df3c63-c0f0-4b3b-ad60-ff28f5ee1274 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:813973eb-660d-4176-b8bc-5b9be2ea7058 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:d5273f66-6531-4a70-849b-5c60e1462ca2 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:4a8d250d-d00f-4f9d-8a52-40b39e4ddd35 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:6fd5a158-3309-4152-a3e9-c9e5f7512734 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:640c0ea8-7338-4110-bbb6-e512c37e2093 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:6ca24c85-c547-423a-9292-c9fb3625fb9a phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:312e77c2-5f34-407f-aff3-89c2ea675942 phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:29aff19a-9818-49c4-bcb8-3724a5f0c36a phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:cbf3f19d-a451-4122-81bf-e4ef120a6c22 phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:c6d973e6-7a79-4ee6-a8d7-2c8a047299c5 phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:8279e553-9cc8-4e51-91be-d2dbe6671ae6 phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18513678 uuid:e05ebc91-0235-4d41-8727-554f94a0def1 phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:34c79947-bec1-4378-8a5b-6dff85c494ff phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:9082740b-6015-440e-b2cd-d591c8c9f2ed phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:8271e189-813c-42ee-b415-7649448a215e phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:76a29e1e-0829-4009-aba7-48717da6d6c9 phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_phenotype HP:0031435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18513678 uuid:20c23965-3093-40c6-8989-5be0dffdc436 phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:27b21241-92b7-4e7c-b7ad-d913a11eee2c phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18513678 uuid:e3b48793-22e3-4be0-abf1-b389e29e3769 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:25085748 uuid:f28cfe1d-8784-4323-bb44-83494bd8e451 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:25085748 uuid:c93be1f4-809c-4b80-8c0b-a024ce3c3f83 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0002548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:25085748 uuid:877e9afb-b44f-4727-8643-7824daebb3e2 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:25085748 uuid:893c0f05-6df7-4a6e-9b3f-2017e3835fcc phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:517e197b-bd7b-48ab-a1dd-bbb16b4eae34 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:e493239d-3fb0-43bd-8ba3-9313a57ff5b1 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:2779022d-c91f-4909-9958-8632618b6494 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25085748 uuid:cccbe2a7-b542-4720-a614-46eb5de85ad8 phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25085748 uuid:ccc3e8e9-4b73-4182-8805-39d307b2c6cd phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25085748 uuid:d100a28d-bd17-4c97-aae7-267902ad3cdb phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_disease OMIM:260300 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:25085748 uuid:63d3c332-7098-49a1-921e-1744f433d94b phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:has_gene HGNC:13586 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25085748 uuid:65584044-13c3-4d0d-bf0b-6ec7caefc6b5 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:3ba05b8d-beb1-42ad-905d-d0558aea4dfc phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:279b362a-f8b6-40c1-b679-7e585a369564 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:0339bb17-fa80-4798-9f18-a2eda0d85abb phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:766b1c6e-27a7-430c-8024-26349454d906 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:817e2c59-bef8-4235-a617-174d74a0e9e7 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:cfe79f84-87ec-4f81-b3b0-e2ad7667025a phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0025289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:c297ea63-2f0f-4e38-929d-c4bd8bc1a83f phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0031864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31068971 uuid:455b3059-5b44-4ca5-a51f-ef1bdf872a73 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:31068971 uuid:7cdbdfdd-0a92-4ad1-91de-b8596119810b phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:31068971 uuid:5f75ec17-534a-4a8e-b48f-02bb8a304461 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:31068971 uuid:4918f022-1c24-48a6-8cdd-17fde5441a62 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:31068971 uuid:1e576b24-a0c0-4779-825a-dae5cb8676a2 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0032455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31068971 uuid:7fdfd932-9d14-491c-9d54-2615511c32d0 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_phenotype HP:0010701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31068971 uuid:724db982-b049-4075-812b-a84a83e6f35c phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_disease OMIM:612840 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:31068971 uuid:11836864-26d9-4212-bb66-c445c531e017 phenopacket.store:FERMT3.PMID_31068971_proband biolink:has_gene HGNC:23151 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31068971 uuid:84466bed-b98c-4d52-b1f1-31efbb20a4c5 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:10b8ebe5-7922-4824-9ef8-864202886bb3 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:b411c3db-5f2b-4fdc-a866-8143bf7d3dea phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:814cd7f2-666a-44ad-b444-d5c773a94213 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:24e15ebe-d4c2-4876-938e-06e7c835982c phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:319220a0-5d5e-452f-ac79-e6e4e3cff258 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:6724988b-e7a0-49ba-b3e3-fb254048925d phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:4406639e-a82b-419e-a276-f9c753238ac4 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:56a95438-bb83-4c58-be9a-928a7d4a1aed phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:2e586e03-f837-4a72-aed3-9b9fab4bbed2 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:5da7cb3b-003e-4649-9f22-5f3b19a7016f phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:e2ece0db-82ed-4ecd-b0b9-29d50f88da06 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:d87f9b01-20ce-475d-b3e9-a4dde087c323 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:67002808-33ae-4a9b-b2d0-de0d41983a44 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:23370bf7-6746-43cd-8df0-d15e3c8fa751 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:c5861c68-b70f-49ed-a173-2978a1ba9d73 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36051692 uuid:43012ae9-1afc-4fbb-814d-9119431c37d0 phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36051692 uuid:cac46461-7b6d-43f1-8a33-876363df9a18 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:c7c9295b-f7b0-417b-ba5a-4feba6e970be phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:d67886f1-e67e-41da-8495-97d56fa452c0 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:728d1715-df75-4b56-b5d6-dfe2332fa7fc phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:0af72fdc-d4b9-4602-9870-e53639c51c38 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:2f5e7364-c2c6-419b-9bf7-de6a68315ec8 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:43159b88-1f66-4d30-aca0-e084703ef7bd phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f5de8f72-af3b-46d8-9d6f-5513c6feceed phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:0e65a68e-53b4-4333-a06b-37f403942f95 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f8af2962-3b5e-4691-8c71-34dd537ad3b9 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:d24b98ff-dd00-4048-8ff3-64de78baead0 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ce96d628-4e9d-46f7-91d8-079cde82b16f phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:e578fd47-3717-43fb-b931-d853bfb2f4a7 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:726a7fc9-d975-4bd8-bb6e-8cc1f92edf07 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f302b06b-5bd3-4804-bc60-9b7b6deb0a9c phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:78a8a7b8-6f23-487c-a7ef-3089df1aa995 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:bc104ad1-c963-4719-a2d5-5b9cf5e924a4 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f2064ab1-e861-4a18-932a-26a0b93b6f26 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ad76845c-34ca-4986-a900-60c23d4d37ab phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:10937f99-4e71-4d33-940d-fc443bfff55f phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:b0547578-9e9f-4057-a87f-285ca97d6e3d phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:9c23cbbb-27de-4b87-a7fa-f7982a386f9b phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f1b345d8-68b8-439b-9060-6d887dd7b625 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:2c3457da-dfdd-4da0-a6d0-14b54c9b8f69 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:c65d85a1-954a-4ae1-8810-10cb7eecd2f2 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:584f1615-6e5e-4135-b6e2-21371a633ad5 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:bc9ca420-e4e4-4a24-801b-4e4520dc359d phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:7ade1657-5a88-496c-980d-190403b48913 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:784ad1b0-4c7b-4e01-bbcb-ddb239cf94cb phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:e24310c6-bdee-4b46-b4e3-db7270bccd37 phenopacket.store:FGD1.PMID_20082460_case_2 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:817e04ab-17a7-48bb-9d2a-09dc019dd50b phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:56ed5304-8173-4e02-8bb6-2f244c8aec4e phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:9c495e2a-bdde-4ba0-8f20-3aad16f86f28 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:f84e6595-2a2b-4e1d-92e1-d59cf5b821b6 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:30e7b7ab-67b2-445b-9ade-610017d04628 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:b2430cd1-6290-425b-ba49-4c0c60db61ba phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:4f9abfc3-31e7-46f0-9373-f27da894c65f phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:6d522077-0f45-455c-af8a-ac99a0b2dfa5 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:149130d4-c665-4ad4-bc5f-7877555c8091 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:2dc2fdee-f2f3-4850-8db8-66b50a6607e4 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:1da40d1b-9c70-42f7-925b-019b5851f86c phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:8c0e004f-e247-47cf-8384-3709996655be phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:767fe0a2-3784-4d2e-9f78-66c8ef40b749 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:bcbf5f1f-c642-44c9-93b8-e33ce3faaf14 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:dd195271-025c-4c7e-ab52-ee970a53927a phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0008850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:f9843d0f-ec29-48ef-a962-1be8edc74d21 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:548516ca-5650-4f7e-9471-568e7fb9d577 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:5d8c9919-58ab-44a4-8857-133bb53bc78c phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:33fece48-8dca-42e0-abe5-a81f28356d07 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:a55adb8e-9cf1-4656-9e52-d6197f6c79d9 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:55604d6d-8807-4c5a-bbdb-3a6444493250 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:610d62fc-1ffc-4230-85e0-08706fd9f1ee phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:583e6529-40e5-48e2-aa38-f3981da42615 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:19a3f33a-71c6-4c00-814d-b8b8a11b5f65 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:bad473a0-9597-4de3-860f-e7b065c9ad30 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:3ea996c7-248d-438a-874e-707a235274c7 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:4273abde-4657-43fd-a1f1-d0e7aba032e5 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:1afaa7f4-9603-4da6-a533-fde83a734331 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:2819fa7b-1e2f-4740-9b7e-a460f7ffc233 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:a969ec78-9619-4f12-b996-098ca117a7e7 phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:533fea1b-16aa-4f81-be73-f960a1c0fcd6 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:0490fcd4-218a-44b6-8648-fc1e3944d12c phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f4129be3-3cbd-481e-a6ff-11e7824d4f8f phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:187b398a-68b4-445c-903e-c64b04aa160c phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:58c3f4c7-30f3-4c3e-9edc-d9863491e0d3 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f83c8ac1-4151-44f7-a979-88773b85f863 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e04d7311-c969-42ce-80d8-bbb68c4f745a phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:af6c39be-ab18-4873-b71d-8d24901a329f phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:8b7dddd7-d5fd-4a26-b9f9-8634c71a4e75 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e5cf5c39-05b7-4c47-8fb2-0488ed671eba phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:fabefc66-1a4e-4f25-8a7b-d408a5b51cc9 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:3e3fe6cd-b593-448b-bf37-29172bf59ec8 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:1df14e7d-520f-4cd3-ae83-bfc49cf32697 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:29c88ea3-e99a-4def-a3b1-3819c9ecba1f phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:9e0e753c-dac3-4ea4-b1f2-67693ace87eb phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:d6af8754-6e9b-44f4-a61a-63352d115b34 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:d4cd2327-f022-4747-b274-9b1899803dd2 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:e36f700f-5e1a-41f8-a70f-8decca8f8105 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:0dd8242e-213c-4e7e-8c91-8b286461cb53 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:9fc1af2c-ffe9-4aa6-bf37-90171cd6d757 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:79ff7ac1-f007-4de6-8b85-5fa96d0321e4 phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:5929bc97-2337-4f64-9c0c-c09db17239e5 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:519a4ee4-8cdb-4b27-b63a-5242ea817c12 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:f8872483-9971-4370-8081-460491184a21 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:ff60fee2-24e4-44b1-b406-2c7db96fc03d phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:dee5664c-3efd-4e03-a1e7-93765eddc406 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:d4c0e02d-7271-4af7-98c6-80c8916abeb3 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:5d8b505b-d733-4a7e-9370-226b47bc7878 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:de68753f-5de1-434f-a51c-91d899839d04 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:e46535cb-923b-4fd6-b199-a62508a9774d phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:015ef224-93a8-40f4-aa86-bb741e32319a phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:2cf555d1-6575-4187-a430-4a878a8a7d97 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:e5545a29-33f6-4c51-81e5-0c8c1115558a phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:38704ce9-ea30-45be-973e-1acd8bd09d5e phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:cbeac2f1-eb8c-46f3-bae2-e0bdc6c9abde phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:1f8e0a90-8b70-4bfa-915b-3010f6d7911d phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:72f60969-0a05-4176-89e7-34b35250ba2d phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:653da152-7cf7-462a-966b-dde42c6ee585 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:e7b6f04f-2c02-4741-9540-cf8869c0fd2a phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:c782c774-afb7-4733-a000-2cfe15f03e75 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:61cb71f9-3192-40f1-ab25-42642f28b2b0 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:f7110aaf-4c53-4e4b-b700-6bb6305dcaee phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:ed8e9d90-9e3a-431e-99a7-7d217e06c04c phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21739585 uuid:48696a9c-aa8e-40a7-ab85-9cfbcfcc34e9 phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21739585 uuid:7ac29bea-67c6-47c8-a54a-7363d5459e65 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:74213abc-feee-462c-bef9-aed92250be80 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:71128112-f466-4fbb-a872-19c61c8b6865 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:85a14f83-76de-4c47-aeb5-349bf2f921c0 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:238d18b9-f3b6-4867-b2fb-d291128ae4b0 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:c1b2e734-6212-4080-9c0b-f9d66e131993 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:a0b32645-5836-4dab-b5d4-cc5acee80472 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:7d67e3a2-8ece-4fed-8cd2-8e8d44dda484 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:9a98ed55-e7fd-459f-a9c6-48c07ed12b11 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:07b93af1-7bbc-42a9-819a-aa46bb8bd104 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:0afc8e1b-94ce-4982-a1a1-14d389649a91 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:2aa2738f-b8ff-45ee-846c-dec46fa6be99 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:4de47fe5-9100-4284-b6e4-539e4cc0b226 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0008850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:0450e10d-a237-4686-a246-e5c692e260d1 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:3f498754-76d7-4fbb-9e65-1a141ceaff7e phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:64000663-ea02-4250-8794-23388c8ad7d2 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:16722504-33e6-4035-85ee-7258a21ab1b5 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:2255f6be-58e9-449b-a24d-5f888b9a015e phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:15798cbf-c86c-415c-936e-01791cb7774c phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:ace722fd-9062-4841-9631-765cbe5997e2 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:ed485cd1-0ec9-49a6-b31f-948a56d2bc1a phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:3a0136fa-da12-41ed-92d2-65dc34eb8ae0 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:2fba6f86-ffc9-4764-b136-a47fa6337f35 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:84c601a2-79e8-44ce-91b2-92aa0aaa90cf phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:5c1f3256-09b1-4dec-b4c0-7a1bea04098c phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:b2327e12-bd0c-4b1e-b31a-4d2280c254c7 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:aba439e2-08c9-4d56-9d88-b677921d0d2a phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:b1e61f3e-32fc-4783-994b-3741d873f637 phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:66f7c14e-b447-4f39-a6a8-bfaac6df9045 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:f9f35e6a-bf1b-4f87-8a58-dfac2f636804 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:03f3fb19-0caf-404f-80ad-d4fab2f7173a phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:6a72ad68-aa4b-431b-88e1-9d02e8c80de2 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:656f94ef-12b2-4f90-876e-e5a3a9aa8e0e phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:9166e72b-8fce-43e6-ad8e-5896bcd37e71 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:1e6b2c99-806b-477c-8f7a-1cee3bf85819 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:3a1a7266-664d-4d2f-af99-463859325640 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:867294d1-c5ff-46b5-938f-b10b6378b818 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:b0fd662e-69be-4d38-b0cb-df2d6edf518b phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:0059ec31-da77-4a2e-9157-28837c84c84d phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:be31c01d-619d-44e9-8389-ecee3b3bb49e phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:56d781ee-17e5-42ec-85de-387b59463dd6 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:29d80717-6a7c-4593-8185-0174f580512f phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:18fe82af-49f6-49d6-9e3b-b6cce94341ef phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:43e7f4c5-ec36-4e8b-8d05-0dc7ab2dec19 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36051692 uuid:ae2bf120-a141-4dac-b034-f02ddb89c250 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:0a5b577e-e07f-46b9-8b01-e0f23b26688e phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:a564f40d-599d-456f-be14-ea5a8836be19 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36051692 uuid:27029c36-2084-4246-94b5-bc71175287b5 phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36051692 uuid:014350a1-b17d-43f0-9412-68ac054c93ef phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36051692 uuid:551df78a-21ec-40d7-a12c-d782b6186b2c phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:3df0e13e-9289-479d-a712-477e01685db2 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:3923a0e2-9a66-4438-b46b-7e08fb47e97c phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a365edcb-345c-4dd9-b546-f246db05d9c7 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:af434d0c-9597-4f1d-b426-11c9fe9e3484 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e8d06760-66ea-4c0c-bfc5-45daff57d9e4 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e193211c-a31d-4ad7-b47c-843528479c6a phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6bc4d7f4-986e-42d1-ae70-3ef885dea177 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a47a75c2-85ac-4a3c-a971-3307374ff5d3 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:0b9b12f6-357e-4f8b-94df-4d9fd8019dc8 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c3c1b613-461f-4030-ac47-0c939e8ceb58 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:89f289ec-99e8-4e5d-8204-ca58b98263cf phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:74c946f9-8db3-424d-8066-10ec36afce72 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d91499de-3a9f-4672-aa80-88c2e7a155e9 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6f5a7f15-bfe2-4ce7-bf60-c08b738eaa41 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:cf6153e9-bf50-47b8-bde2-a9447249debf phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:1cfd0b86-5ee3-498d-9b9e-83b91c34e43c phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:995bab4e-c5b1-4250-a420-edf46600c753 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:89235dba-3d32-4454-ba23-5a3e501a1680 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:2935a912-8ab3-453d-8503-efd13b3c7d3c phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:155fa676-6abe-4793-b0fb-2e7ad28c4c3b phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:6df0293d-d86f-412e-b46f-fb272f25b030 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:97579c1e-c8b6-4bc8-a3ba-d40d2d5f2d61 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:1b536091-8685-481a-bf02-ed753747fa6d phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:82f0878b-1c28-4472-a97b-f2b9db4f44ab phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:007f75b5-bb3a-4541-9cbf-54a8476f7cc1 phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:9cbfa673-3ff5-47ca-9fba-c33bac28ee38 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:c69ec90b-570f-4c45-83c9-6221efd38d9f phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:7b987233-d0d2-4544-b2be-2a163095aa7e phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:efc1371c-cfca-4ee0-a3ed-927eead2c05a phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:1cabe0dc-76b8-4696-9a88-a51fca0d9c55 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:62cde520-848c-46ea-bd1e-06d2ee7fd4c0 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:bcefc54e-1147-4a2a-a433-6fc83b850d25 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:a321472e-1a63-4a17-972a-173234ec683b phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:9445989e-1acb-4887-bfd0-53ea385510fb phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:bf9aa141-5134-48f8-a060-a964ca9ccf33 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:b0dbd3e7-85af-42ce-8098-bd661639b254 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:c9653528-283b-4b37-808a-26fb5d7e17f9 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:be82b902-aa10-4fac-970f-f2a11eec8a9f phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:1a00e74c-03cb-4ffb-946d-46772d57b523 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:64554b74-6d89-4f18-b6ac-adf8abf29ca8 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0008855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:77283241-d6b5-482a-abac-7529712a2fa9 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0008839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33067218 uuid:32b1bf94-8f13-4739-bcaf-51ad9590f8ee phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:e884787b-6cab-4ce2-9f07-7ba4f44a2cc7 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:c911a705-c9d8-4919-b98b-1c9c527ea7ca phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:5defdcb8-66e1-46e1-9ca4-9a18f171d7ff phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:e378b2b7-4e37-47e3-a788-a7e8b7cdf1b5 phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:526cfa9b-1722-4dba-85c6-25931c44c88c phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:638377af-97e2-4b01-9cc4-3f8982fbd09b phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:0dcf297b-936d-40d0-8b49-df467865ddcc phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33067218 uuid:8a4a4d39-a5a0-4f09-b19c-724e3ba67f3e phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33067218 uuid:058bb93a-3cdd-465d-8585-4e7ea03b302b phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33067218 uuid:588b3bc9-a1d9-4045-ba0c-a853070e8f7b phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:ce21c51f-6a5d-47b5-8c78-95d82f8ac83f phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:ad36e1fa-c9b7-494f-b108-5b7245eb11d2 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c752acd8-90a8-4362-ada1-4ff6ffa4e8bc phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:59e2ea0e-3442-46b8-9823-8944dff7f06e phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:aa4f4925-a4c9-4a52-8c1a-aed0e9acff8d phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:3b447e65-6b0c-469a-bf01-c63f2074226e phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:bdf5399d-d330-49c4-8794-412eb449f632 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:7859fb24-d162-40b6-a63c-8192c6f52228 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:cfa102ab-d304-48f0-8168-904ac7c57a3f phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:64caf10f-db31-45f3-9a9c-377ebb41ed19 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:4c4552fe-5160-4094-86da-430791db3089 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a0ceb499-b65c-40ff-90d1-41fc24b76382 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6bca1125-d458-46f8-b390-73dc1813ea61 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:583821a3-a9a3-473f-83f9-4f7e4412128b phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:7033f3b5-eac0-4de4-b61c-5c53d39ac543 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f3f963c3-f190-44f2-ae1c-bdbd447fd280 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:82d4d573-19b8-4353-bb43-4d7c5ae4e9da phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:e226f9b5-3054-419e-b6fa-28874c4fe000 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:19849c3d-2705-4f49-bc19-210748fc5955 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:8297f283-686f-40a0-9d9c-af1715927709 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:b8c4a078-7394-4e4e-aaa6-04b00d50550b phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:690186df-7848-44e1-89e9-4264193bc742 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:5e562bb3-837c-47a6-ba4c-e630870f9001 phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:7229d14a-9078-45ff-8190-e9be276a8291 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:7932b455-073c-4b20-ac7b-6eae01d01552 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:65b59308-f481-41ac-be4a-92f4fe5ab69b phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:e301347b-cf99-488e-97e0-fcdc61b029ee phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:fe8824f8-3ca0-4cec-b8c3-6c4d4f275079 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:7432fccb-e2ef-43aa-a443-e89a252df6b6 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:66d9d944-aed9-4540-b592-17b22f9df535 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:1ef74065-f84e-4c3d-9604-6c1cbef530a8 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:f28cc9cb-faae-4020-9d98-1eda1dbd12d9 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:0f498381-e810-4721-bba7-d60c64f786a6 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:fef4679d-f191-4c46-8413-d33078933534 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:703f9099-6adc-432c-9022-e33c2b6ff82b phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:2c85b1a4-796f-4c04-80a6-5fbd3c02e0f1 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:4fca7a28-f98e-4b0e-ae84-a108184ba2ad phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:0e82d03b-3bc9-4ff8-9bc5-5139cad0d59b phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:a366bbe4-2b4f-49e3-90c1-2184e5544661 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:27e7ca96-c65a-456a-991d-2f9023e49c17 phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:5274939f-d9f1-4a2f-8831-2cc6fa911ddc phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:1074c763-b01a-41b3-bb5a-53fd9117e85d phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35388608 uuid:c825e33b-de09-4369-9131-b9e4c2ff37db phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35388608 uuid:1a82ec94-3f26-4123-8d66-01e744d63aef phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:9c7fc658-d6cd-4490-9d27-928d32741a44 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:33b7c13a-8b73-4ec9-96af-67edea863000 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:bb0062d4-2fdb-4d9a-87ac-8a95c9c63493 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:5b6fa65f-376e-477a-93cb-90dec2c41dc3 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:8b6333df-2b0b-4525-9a7b-6e2d9a8869df phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:b114d5b5-af84-4122-9949-769aa528fedc phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:930656be-e11d-4ec8-8f3c-61034f98b731 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:40e71de6-4ec7-41c8-a678-45f0a0f5a489 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:6dac61cb-47e5-49be-bfbc-9891dbbcb764 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:ee1c154f-fd1b-4cfa-862f-39ff4d5e1365 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:270f2fda-5d14-492a-9ed6-e159c1abddf3 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:d8a00c4b-116c-4c69-a925-a43a5629bd43 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0008850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:faab38a9-3ffb-49c0-9002-29fb97c9da49 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:3febb13c-9c90-4df0-9be1-ba2287c897fc phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:507efdb9-ecf9-4ed6-952e-f18ad3abdda1 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:38ca3f48-aeff-4d27-bc98-414da96b18cc phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:e1316452-7ab2-456f-8a74-c0a6611253ca phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:6ec6f1a5-94ca-4281-919e-13d203cb267e phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:e9fac34e-297a-47f6-9211-17d37d2cb9f2 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:9914d60b-664e-4213-8e39-c67e3cfb8fb5 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:10f3090f-3db6-4580-bfec-44d8398e3912 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:a1f603c8-d654-45b5-b208-03e8847acb56 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:7c3c39b3-c1d9-4cb5-80f9-8837b4939b66 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:8a808e47-a9c7-44a8-9f03-aa25f1a28f8b phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:8067d843-8f9d-418e-bbef-f3cc82030e85 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:7bd1a32e-9c19-49c3-ae53-ef830c4563f2 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:6ca42972-ad5b-4923-8807-d0a4fa12a6c1 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:c58737ad-2183-4c8e-8e87-4a9a88c63460 phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:06ed6505-bfa7-4078-9be2-8b7a0600b7f4 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:d7522c23-f04e-437f-bc55-2d782afacd86 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:6c605940-7dee-4d2b-8bb5-35163084e54f phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:b036e714-a92e-4f43-a806-3583b774bf36 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:0f53ff95-cfc6-4c0b-830c-b2559f873e33 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:942f4505-a845-4d09-b16c-e898d0cef951 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:ef145f41-cdc8-4c03-af66-af4adbaf5495 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:fec55ae1-21f8-4f6d-8442-19d82eac093e phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:b008b149-333c-4012-99f5-448cb037a97c phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:ba8b63bc-6223-4f94-8417-69f3cf6b7f66 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:130c98d6-baef-43c0-a8cb-880407e3575e phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:5c4cdc82-9fb9-4044-8fb0-c9f084710a2c phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:7c91bcd0-c023-4873-bfc7-13875ba65630 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:0fa191e9-f0f5-48e6-9086-bb53ef61ef41 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:03d29483-89fa-41f6-b3b8-37f182bd7514 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:fd6d7618-9779-409a-9565-34131191b739 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:bb512738-437b-4b5e-9835-434fd7e7b0ba phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:f9b9e6d9-6cdf-4dd8-9666-a7231c9401cc phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:974f57cd-3404-4776-85e8-f6084f4cc309 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:6d9e3ea3-72a5-40d6-b11d-d4fd5f2048b0 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:fa7ccc0b-8038-4d61-b05e-abbeaaeee2d9 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:bfc3fd0d-e5d7-4fd5-bce7-9504978a341f phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:fba62790-5ea0-48f5-9c54-d29246edd8f7 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:e79e4e28-3d66-447d-b34b-01ea8547db72 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:1d94bf0a-f355-42d1-b27e-07db4e008975 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:0ca03418-6c6d-40d1-ada9-8c1e66e06dbf phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:6950f002-1924-48fb-a1c5-6bb3d96e401f phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:0b688f73-abab-4ade-a6ee-0f8039bc5112 phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26029706 uuid:bd33532f-95f3-4c5b-8623-b559099289ce phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26029706 uuid:38ae4d94-e66f-4611-926b-925853ebcbf2 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:c61c4de0-9a4b-4bb0-ba02-6232e2070e93 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:41b7979f-f83a-49e5-b48c-b65b4afb309e phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:84d56989-7171-43fd-abb4-edc0279b3d8b phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:08f1f4c7-2195-4bc7-9e46-924dc0ab944e phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:d39fc348-55f1-450b-9ab3-b75cfccdba55 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:81cb8ff1-3d5b-42c6-9d43-e5ab4606c307 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:874ea326-2285-4af5-8a87-e1dc63edeedb phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:c0d74861-4717-462c-afcc-c89ba09f5a11 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:cf95e8ee-32d0-4ffb-a4b4-53159339ea32 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:c15b1f89-bbca-407c-b108-c86422dddedd phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:886c234d-7897-49c6-8978-b14ced986425 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:3709c32a-6ee6-422e-a733-f21e42f36692 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:a0c9220d-76f7-438b-9d7d-dea8e17b200f phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:4b78f8d5-b8a5-4bdb-8d8d-46f1631541e3 phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:b30b8f65-3643-411d-ada8-bda977834aed phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:11093277 uuid:b3c12f20-8c11-4ee3-a700-db62e074e34c phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11093277 uuid:459732b5-1228-414e-889f-3c17ce2166af phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:0ed3f8f8-f59e-4e90-ae13-835e6e344d01 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:3463d598-92d5-474e-b75d-64efd7cec413 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:50bf0e85-2f69-4444-821b-cd5a3f6da87a phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:5b16833d-9e8b-4d95-a789-d3ecd89e1273 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:83f8ef2c-efe0-44be-aaa4-669d49ca5652 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:7738a338-d638-41be-a04a-f7fe9f3d24b6 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:8a04e79d-05d3-4881-9ca2-8b753540874a phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:a07677b6-4117-46d8-99a5-76d4a4595bdc phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:d05150a4-a23b-4658-a606-7466c9878a9c phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:ddf8d25c-912d-4445-ba84-b6e680e49287 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:b10b7eb1-ed2d-4440-9c25-cfb50426d07f phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:b9f8fab7-e0e9-42c0-8ab5-5ed136f6cabf phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35388608 uuid:34288b48-54d3-45c4-99f4-09c6d681ff65 phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35388608 uuid:f03e8d91-2cf7-431d-9dcd-dadf6155cc52 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:495f4f23-b00f-41e8-906c-e4b9a8381e76 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:3dfd4fd8-5047-4210-b541-c9cdf320884f phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:aa86826d-0962-4ae2-a4f5-784173a6f967 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:78cbface-1172-4b59-8245-41c8e58efe84 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:bd663d25-6e9e-4e3a-839e-91e1f40a00e3 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:810e3bf4-10c2-4b82-977a-4df78df800f5 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:3f54f654-5f0b-4184-8d94-a43a48baaa7d phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:22aa5354-e886-49cf-9c2a-aaecce6a3956 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:6bdc39e5-2a01-427f-b8a4-de5675447f7a phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:96e581f6-7a41-4963-beb7-d9c1cef04800 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:74eab8f5-61b7-465a-957a-473b60a77136 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:9e75632f-b067-43f4-803a-7366e7d089b3 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0005709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:db275751-78ef-4f25-b1f4-8a797df93a21 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:41d8bf30-26e2-4cc4-b8cb-73dd16077ae6 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:78e4d7f1-a1c3-4138-b7df-6d86cb5ad79f phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:01206bcf-c385-4987-a78c-67190f745163 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:2aa95077-1583-41e4-84e8-417959b06dc6 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:5c241302-f63b-4785-9436-b81343170c0a phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:8e59ecc9-d25b-4e8b-812b-a5b416c50bcd phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:914f1101-dee5-4a66-bd17-441d87542add phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:9f13c2ce-fcb2-4472-a7c2-86d0756f88d3 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:3f519725-bef5-4d34-9a85-897496ce8e1a phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:80d1e016-28da-46f9-bb90-8d1e3c715c84 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:9879eb77-60f8-4416-ad80-a05fa81bcedf phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:866c78ea-8094-496e-af72-a6d21f67ad16 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:334f50ed-c99a-4118-8a48-79d96d706bbc phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:f5e18b96-5dc6-4d91-ae24-fea31211db53 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:79c33d76-fb60-4356-845f-f696cb713514 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:cd47949a-e80e-444a-8d7f-6cd2d942ee5b phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:e17efa91-4349-4cbb-ad7b-45900b10959f phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:29237706-9fe2-4cd8-81e9-b0eb44a85574 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:608c869c-9987-49d5-9b69-3866fe8abb54 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:07a1914a-ae11-49bd-8f03-00374a31a9c4 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:85fc5a47-e42f-496b-b5e9-0aff8a2d9af1 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28103835 uuid:b634cd24-55c4-4c43-bb07-9d20775d4714 phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28103835 uuid:3556e9cd-958d-4a04-813b-ba7cf0d7e85e phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c4d46a24-378d-489f-9d68-e8c9e631a890 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:1286f687-66e0-45da-9009-82b94cfb0b9f phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:acacc1b8-3ea6-4ab1-8829-0948f56f029d phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:07215e24-01c3-4440-80a6-896e80aafad3 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a70390f6-1040-4e33-8b2d-b53f93f0a26f phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:b95c72b9-1744-49c2-9ed8-3cec405cb4b9 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:0dfef024-8ede-45ab-a176-e3578d7e837f phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:38689c09-ad47-4bcd-9ef6-8d770aaf9362 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:60c6d67a-651e-4f45-b675-ff7789ecfb4a phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:2a3ec0fe-c61b-429f-a3ae-557e2611f2c6 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:1679cc75-0647-49ae-8b8c-bf528359eebe phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d0d34d75-6c9f-44ba-9153-8874f4a85d67 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:088261e6-3a15-4a99-b294-5f6667a78180 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:8103b4da-f69b-4b03-9c4e-af1fd2771510 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:3c3f1060-462a-4247-a3ed-c6cfa368d006 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:1b109ec9-06c4-4270-a217-8dbfc9f6050d phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:a6a01136-1e3f-44b6-8f57-f283e38d0c54 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:98403895-7dc9-4d88-8317-27757ce4521b phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:c43168d3-8d1e-487a-b2aa-909838f3eb32 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:8e71abab-00b5-42c0-91ac-5d3176e59112 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:4ba00dab-7f44-4926-8c24-1432dd8a0f1a phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:74fa2c33-cec8-4120-b8ae-5abb9500c848 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:439de3f0-dbf1-44ed-946c-c67f8ca5f9be phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:80fa39ff-81fc-4559-9aec-2703047a5796 phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:74e0a66d-0b5b-43f0-b6b2-6ef432dbf12c phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f561237c-7dca-4a70-a6b5-c1df912c0afd phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:538ff182-81f4-4fea-9a28-a9b4f22ee641 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:ef559510-8e6e-45fa-b312-588a22b16a65 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d3326243-45cc-4f8a-932f-255ed6fc95b4 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:9d198264-9f44-4f30-bcf9-d76068cbffbb phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:5d52991d-9056-404b-9b47-dbd28c34f07d phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a7775ebb-e38e-4e80-b953-c61fec9c6a50 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:8d923130-bff3-4985-bd69-01b2664b9a28 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:77625915-8f17-4989-a138-06e5c37cd5ef phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:9406a379-1c62-43e7-ad55-b17bdfdc6493 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:0bace16e-35b5-47fe-942f-9a7be71bf1da phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:894b2c4f-25c4-4e94-9ab9-78e1b134ffb2 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e5e00575-2bcb-475e-86ba-c107ea454b13 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:4c9e5905-cca0-4722-b7db-8531727dbd78 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a14311b0-dfd5-4be7-9efb-75fd7dd74d62 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:b457fe32-b5f5-441e-849a-60e2b77cfc76 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:079bb3a0-bc83-4d14-be13-0cb5fb5e373a phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:cc9214e0-3433-43b7-80ee-51a653425122 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:56419b74-9b53-4d5c-9b64-5ba0c142e747 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:185eb8bd-7985-4c74-8e10-88bb05334791 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ecd4e000-1811-4080-85d4-27eddcbcc418 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:248d917e-44a7-436a-9683-68e5de1b1088 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:263ac311-dee1-4f09-8e8c-b11aac1e6fa7 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:386cabe4-26ff-4809-b553-a4313f0d6968 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:14560308 uuid:17ca9e3f-b379-4548-b253-37995b656ee4 phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:17c07161-fa71-4f31-908c-010f4bf914f3 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:bdda5db5-f5e3-4e9a-a320-531ae8b8d629 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:8f09da0e-95f2-47ee-8215-bbbaed0e3d46 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:59943f7a-f7de-49b0-9585-a70c557be7d6 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:562d0143-27d6-4466-9502-1f3a22a69419 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:bc18b32d-9cdc-4b1b-a88b-ff1468a22635 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:af7d8ffd-3f3b-43bb-9b7d-bbce749ee6e4 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:63c5007d-8d0e-49cb-97fa-458216521c2d phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:c3016122-5ce0-444c-9edf-aeed98819fbc phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34189097 uuid:ddd10193-a59f-4d30-916e-ecdf97445bc6 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:36cffde4-df80-4744-a82e-57d6712446c3 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:90521717-e94b-4954-b104-37aefd474376 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:d0dce442-6923-4872-964c-74b073572fad phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:0997aad1-51d2-4b43-8e60-86a74603b3c1 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:c9eb5027-0857-41e5-9ded-432acd847e0f phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:72e371c8-5a74-430b-8473-e2d81b62f41f phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34189097 uuid:3fc72df1-4116-48ab-a81e-386deba35a83 phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34189097 uuid:75eb04ba-6327-453a-b2d4-eaa0ad54e37a phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34189097 uuid:d1b2f058-b3d6-4095-8527-e7e86483d3a0 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:5d61fd33-915a-45d1-9127-a5ed178353e3 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:4bb3e79a-bd16-4cf8-b820-ca5a97ed62e8 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:1cd87cb5-ac79-49de-b0bb-00194be50887 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:82f43ea0-f499-4f65-b4ec-94d901361c99 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:7e746760-7c57-406a-b31a-fb3bd45096bd phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:cc5fb2a9-a983-4c17-a2a7-d3a48f2024e4 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:cd846734-b57f-4621-8d29-9b92cd2aefd0 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:906bdb52-fbb8-49bf-8838-14d677561e61 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:73d018f8-f5e2-485a-863a-8495330cbf70 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:50fe7b17-2559-41c1-8a8d-5a9fe36e7735 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:db9b8cb6-26cb-497d-921a-725124555133 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:957ff9fd-2fcb-40a3-918c-695637e4e31c phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:44c33459-39d2-41e5-bddf-82abda7c91dd phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:ab30aa8a-27f2-4a0c-821b-d4f0560edc2b phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:2be59770-0057-4d39-ad59-7bb1788eba23 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:340231b5-0fba-40ef-bf2c-95de6b728758 phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11093277 uuid:30fc9212-43d9-441b-bb25-7a0de307602c phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11093277 uuid:14e7b1c7-55c7-45a3-9405-e1d07bf12841 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:aad2f3a5-b53b-46c1-96a5-d250e7ac10b8 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:db54ac21-77d5-485b-a4e6-55a17f798204 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:155a91f6-c963-4300-b289-a710d9a9a483 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:934cd5a8-4046-4a4e-a9cf-710c0773fe8a phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:035e0afb-02eb-4ef9-be38-67594b2abb32 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f2fd3c60-9018-4bfd-8c32-652034352a9e phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4e507227-65c6-412c-bb7e-e76bc6c202c3 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a9f99b27-c551-4964-8071-0886cb202271 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:53cbdd99-1a25-47aa-ab31-103d78c0c21f phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4e656acc-c44e-47f8-9dc7-77b0b22450c9 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a06c4693-db0f-479d-9121-07bde40cc128 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:44a15d2e-0f17-4a81-bee3-da7bde5e5ab1 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ce11d28a-a54c-4b79-a908-87ab395c5a36 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:0c46d529-ef88-40d3-b5b5-978b6b618b8e phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:c43efa07-170b-4129-ac6f-8294c426462f phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:8b8c7590-76f4-4957-b831-1fa555d2d978 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:e36072d9-82c2-4e00-a659-ef1c53c9bc58 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:52f36188-c523-4c57-a09b-742f1e6e7557 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:6f59cda0-42bc-4301-a0dd-573d0936dce7 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f8ccf709-c215-417f-acdb-8826de2c0691 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:fe4eb710-3d7a-4866-b3f2-14e0bc430de0 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:07c073b8-7fab-4c29-870e-7c09a34d53a6 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e8cd883e-c3ed-432f-8521-ae4d6f0f3409 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:bf06811e-d4da-4462-a44e-e24ac0645065 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:d3651491-b101-447a-b9b0-405988390fcd phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:1a02763a-83f1-4035-9e7c-b1f7501d183a phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:2718556e-90b6-4035-bb0c-1eb00e364789 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:a1029a4e-1bba-4172-9629-0a93da46a831 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:5c3f4409-7c56-434a-b775-29d41c7ecda3 phenopacket.store:FGD1.PMID_20082460_case_6 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:bece088a-af85-44fe-b41e-042ef38764d9 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:c6c4170c-7292-4688-85cb-f5ceb785e3d5 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:9e9bf737-a775-4dd9-8b15-86a7ec1fa411 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:3ea5ed31-d973-4cfb-ab1e-55f4eaf35835 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:2d8a98a3-baab-4370-b91d-efbd89c197ee phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:bda6af40-63b3-4817-84b5-8f0b2ba925e1 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:ed99acc8-49f0-4eea-b141-acd5974a8b46 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:d3fcbe5e-02a4-404b-b444-759362b0cdcb phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:3bb9fca0-a4b9-4d9b-a89e-f2c26c9373f5 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:fce57552-1953-4253-bc36-75ae44ead328 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:732adcc9-b3e7-4399-be58-b85c08800b37 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:77a9abc4-aa8e-4669-80c3-ac78269b7998 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:0d6d0696-745e-48f5-9ae6-5709f671588c phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:c1f885be-06d7-479d-bc45-80c9b9e56402 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:3b31aacc-90ad-4a3a-a44e-4668733a5035 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:6965eaa4-b427-4956-b7f4-140aabeb7cfe phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:b59d5de4-9557-42da-8193-9461f1240807 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:4d87f392-d3d5-41bd-8f2a-5c512438e1b8 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:910e20ee-3a62-450e-841e-8178d3ecb12f phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:7ac3f3f7-25fe-4052-adc2-b5e922e932da phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:3c7a27a4-4ba8-493b-8084-cd3bce7e37ca phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:508a804d-077f-4087-a7cb-b7a1d3a1e447 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:f04baf9b-70bc-45cb-9e5b-7090d38ad2e1 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:309e7eba-ca7c-4bbe-8923-cc65e4d5242f phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:f075215c-d763-4ad2-889f-7c8da3e12f2a phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:d026de14-f36c-47a5-acf6-7fcdfd94a221 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:456a1034-8c76-4db5-817a-ff99baa29246 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:a62e222c-873a-4027-941f-969c67440371 phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26029706 uuid:c90637c6-31bc-4340-b10c-61c19c3a419d phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26029706 uuid:3c710a37-12a5-42cf-b523-cfe3f18444ee phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:d777ede4-3257-4578-8f9f-993b69af21e5 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4bd785ee-524d-4367-8222-fb11c13c2cab phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f30ca8a5-c1cb-4f8e-b81f-6da3dde3055f phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:2e2aabbe-f3a2-49a5-9b42-ffc1a83d039a phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:cfaf9a7c-3827-4d38-8b22-590778d95f04 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:42ebdcf1-e3eb-41fa-b470-dfd71d32624c phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:11ce8e2b-1613-40c5-9095-9da0050bb593 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f70b9bf3-a283-4bd2-89c2-16859a9958b1 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:8f63aa7e-2c40-4cd9-a78f-98bb1aaf56d7 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f24de3af-6db8-4080-a36e-24ae2bf0d1b5 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:5921c5eb-7206-4d47-b048-5064fab2b959 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:9879df79-d9b6-447f-9403-444910c35b1d phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:61a90a4e-5a06-4cd8-897c-01a758344b0d phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:b0d88a09-2062-4ad8-8084-1b55b93a6be4 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:68ac7b44-4eb5-4a0a-a471-8f7b6b312f8f phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ceda86ee-869b-4891-8e06-62a7a55c1bf7 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:2ac3797c-6910-4d71-8ed6-bf16c6f12123 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:5acf9abc-f8dd-4912-9d72-7a184763978f phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:5eb547f1-9a2a-48aa-8423-9abe89f68b21 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:fbf1551f-1960-4d7c-be33-d606efa000f7 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:92b33cce-874d-4c14-8178-4c7a78e00f74 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:1bef2046-a109-4c87-a514-71daf19ff0cd phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:dc3b6a1f-e766-4d57-b824-f49aae5cb723 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:5e3de4f4-4820-4121-b389-125b0f4c32ca phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:7394fc27-d74f-4a44-b422-534f0532e992 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:bb742238-ac7c-47fd-afdf-94938d6c64bd phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:88c2fc91-d0d6-4494-9003-8ddeaa739b89 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:7a3f62a0-a3e5-4d78-bb5d-f77ea1f59fe3 phenopacket.store:FGD1.PMID_20082460_case_7 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:79a7942c-c08d-43e2-aa45-77d0744d0ead phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:82bbed8e-bafd-426d-b71d-3ddb240d3080 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:133afe23-5640-47fb-98c7-311238fa2994 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:5edd6f22-059e-43c7-90e6-33346918fbfd phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a763967a-3fb1-40b6-ae65-68d9238214da phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:dcf8e6ff-6f52-4cfb-b1fe-4d409e23f2c1 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:126b4d79-9054-4bc8-85a0-b07615d6c365 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4f81094b-df64-4cb4-a326-c40e0b9e11bf phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:912ec786-00ac-438f-b03e-5c32c747d996 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:059752e8-fe82-469c-a8f7-90e440580879 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:1ee755a3-e41f-4d8e-aa9a-6f1db6aacc21 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:5fc4f88b-ba82-4e5c-9573-12e81f355341 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:7c148999-7198-4232-8bbd-f1f4430ea1a9 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:600c5160-0dc0-424e-8705-cce63120b710 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:30791fbb-5ae7-4be0-af7d-1dab67d81cdb phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:9c5fe161-44de-4f67-a0fa-bfa3d2cc0267 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:cf34041e-310e-4d9a-856c-71cac3db7d59 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a5e74819-7f6c-4baf-b446-e5c9f7e6e545 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:254eb759-2e7c-4b2d-96e4-6e1d03c2e001 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:c8919452-363a-4dad-8dce-b55c8474cb47 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:fae7b34f-d077-42e9-8840-c00c9c9a4b5e phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ae8c6a7a-1bc5-4ec9-a3c0-ed01b908d3b6 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e044fd0c-9fd1-45fd-be75-f54f54146803 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:c8869c55-e4fa-4d31-87ba-c55916e6164c phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:025ec1bc-5cea-436a-a59a-e1b3e5c8de99 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:75c5af80-20d7-4133-912e-945271d4b029 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:4a6483a1-614f-43d0-8266-920c85e73f11 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:fe1466c0-2145-48f2-8e2c-5254fec1a3f2 phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:83b87d78-45cb-496e-861f-78749ae9581d phenopacket.store:FGD1.PMID_20082460_case_5 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:7f1db25a-723f-44ea-8260-4f2b3a74ae9e phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:df0ff1c8-b160-4e82-bcfa-0f6dd4d1a7a7 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:4f33b278-4892-47c8-91cc-e2699e47eafa phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:8a8f7063-4264-4122-a821-002f9e0e6261 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:20c17035-e964-43f5-befc-bf90d200dcad phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:182805dd-1782-4822-86b0-a2297d6740bd phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:3b1974f8-2cc0-4e0f-a27f-04dad0e37447 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:681f7ebf-63b3-42e5-beb7-07f1758c3e34 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:090104e2-2eb1-4374-83f1-b360b63b3d0c phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:5d502b3b-5f82-4b57-83e8-a482f871e8a1 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:a2ce93a8-34ec-4e82-824f-9521c5e02e2d phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:d5f9ee92-7775-40ed-8e7f-5db199d0426a phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:82513fa3-8a05-4375-9df6-e71dc8d12b8c phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0008850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:7e426e6a-26d2-45c0-8c85-7a5fb6e13cdb phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:eb25c02d-b873-45ff-980f-6913fe718ec3 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:daaeb946-1895-4557-bdeb-7c4d7c030c96 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:cc96eb8a-ac20-444e-9465-934174811127 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:e63a69d3-79e9-40aa-869f-e27518c91eed phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:4a26fe48-f9ab-4dbb-b820-1892b58ad077 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:85de7847-3c0b-41b8-b5f5-7e4d733b682d phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:95d441f1-7b07-4910-b549-95e38a3f0acf phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:b25da643-8e3c-45bc-a708-dfb95a28df57 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:dd88c24c-eff8-4db4-bfdf-2b99c9acdcae phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:9bb8db8f-bf9b-491e-b72c-cd8b5035e772 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:27fc1228-e967-4da9-984b-8bbef749665e phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:2204f125-f47e-4709-bc8e-d4fac6c1641d phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:a3e37963-8a35-44f3-a950-b3ee60482987 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:80482835-c416-44ec-a5aa-4afd2c5d6856 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:362adeaf-ae34-4b2a-b99d-6aa078a96669 phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:c3295f49-e39a-4215-bd36-958529d982e9 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:571773ba-c4db-45af-b5d7-2589c1e0bee2 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:2d3d3a0c-aaa5-458f-8961-c08cd5382df0 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:00367434-df79-4057-8cc7-7f9da1c30264 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:56883d59-5b99-430f-a0e8-80dcc695a1a5 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:45c26dea-1c0d-4286-bb7a-c777999e9cc4 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:99b53d20-a67b-4e11-b29e-1067f3150238 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:dd481b3d-1a7d-45ab-a37e-1f14d9ac2414 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:5bad5739-3d81-4dcf-afe4-b232244d4ff1 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:fda7118f-beb9-4362-940b-0725b907cecd phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:0944531e-a82b-451c-a2a8-865f4ab9c20b phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:1dac5758-6a72-4733-88f8-420b190076f0 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:1fad58f0-93bf-4390-b831-4201e94f02a1 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:6baffc22-af3c-4c9f-80b4-1f672cac3809 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:8a3d10ee-3490-4765-8f96-1e3078c0600b phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:128af2f5-4d10-4018-9c3c-d0a6a1eca3f2 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:ac53f01d-6a2a-4497-93a5-c14f61079832 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:98adb29b-d2fb-4c6b-bf30-a7baa2515611 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26029706 uuid:3b1b8456-b4f4-4fe3-a55c-8e19798df7e1 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:0cca5901-d8c0-41d0-9e1c-b3fd8288d044 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:3f3489c1-b1a6-4b63-a8c8-032184c80cdf phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:6eace2df-fb11-4af6-8ce3-b4a5934d0480 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:dc0c4ecc-9c00-4ad3-b877-90e13f466415 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:640a55b5-c7e7-4a4e-8d65-ecfba743c8cd phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:c8a0e34b-d88b-45d5-b8ed-96986520a83e phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:36c15b18-0b09-41fe-8c16-8e09d71b0400 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:5111e898-fced-4697-9e45-231cfa0fa97a phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26029706 uuid:674d19af-bc88-4d2b-b3cd-9e27fdf98eb1 phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26029706 uuid:82b8603a-2540-4bf3-a6bf-205e93f31b6a phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26029706 uuid:47586183-a814-4fa0-aeb0-13b72ea27d7f phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:b17cca70-f6a3-44e1-8d7d-507937bd4f81 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:4a926da9-ffcf-4f4f-8059-264cb89a6375 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:f068d760-52a0-4a53-83ae-97131d273a80 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:ac6bfee5-01f2-45d7-b17c-220d664e34cd phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:e8584337-1f4c-4dcb-804f-0609782afc71 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:81013138-3d92-4398-baa2-f6c309634f96 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:5a66fd9b-c6ad-45f3-9a36-ca81fc69336b phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:e14817a9-2978-4b27-8591-46abcb9dd9cb phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:4657486e-ecb1-414d-9fa8-37035936f597 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:b065e235-1923-44e7-8307-1fab6acce6c7 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:9198106d-7659-4a1e-b248-b82552795873 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:80e56302-e63d-4816-a7eb-cc26bc54f732 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:75ceacff-0cfa-4eb1-89f7-81c724c45c3a phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:5507d229-5c31-45b7-8be0-dad3ae10c1f8 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0008850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38411716 uuid:692c41e5-7cf0-4ef9-9076-b284541d2900 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:5e389ad6-fe37-47e4-a187-400b8cb5fe4c phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:ae2b1ad1-15b1-426c-9497-208dc1db1862 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:132ed337-d156-4b7a-8530-429aa5b76b6d phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:85c85f47-611a-43f0-ae0d-51a8a0750aa9 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:1e956f3b-128b-40e2-af7b-9fd7d00bcfb9 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:af3b3fcc-fffd-436b-803a-bafa06d7ff8e phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:d9a74eef-c8de-4e2d-bd95-caddb3843def phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:50bf389d-32af-4f53-9929-90a05c9e399f phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:e493411a-52c8-4968-a684-87399c1f5cd3 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:e4cd8f52-1531-420d-9a2a-d0997a3f9df8 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:15fee119-fd92-4389-b42a-67ed8c556b34 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38411716 uuid:5950f7fc-0a55-4ce4-bab8-c53b48006634 phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:a453149e-1b2e-4d4b-b0a2-446be39a36cd phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38411716 uuid:bb68a3a1-0216-44cd-ae0a-fafd41344eff phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:16ccfc22-de40-4124-b072-5f2d3553d349 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a89a8a13-db1d-4118-a0c6-75cd9df65b82 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:1ad6c96a-d55a-4027-a3fe-f9be056095da phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:3f02764e-553f-4f84-b5b5-b07798ca5c4a phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4a49028a-43a8-4791-b574-4c7ea4dd2b8b phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:826114c6-f774-41a4-b380-85600b62e85c phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:aabfbcec-d25b-4331-a5a5-894d5b55e196 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:01138ebe-3b8c-4a63-b582-2d1d07e9fe1b phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:94cec669-b563-477e-b5e4-b68a53dd5922 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:532d994c-92e2-4825-9b87-098e68146b54 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:e78a917e-2d64-4ce4-825c-051f02072724 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:8bd3311c-088d-43f7-9d6a-85aefa8686da phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:8958d0bc-6919-4fe9-bca4-f8ed1464fc79 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:34bcd76b-eb1b-40dc-9ee8-ac477b461788 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f640e060-5d2a-4c2a-85b8-f118c69de64b phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:065ade29-c737-4d2e-8e34-02dd27c325fc phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:d869cf1a-4c97-4637-a177-ce6383e702b4 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e256494d-e40b-452c-bafc-57c6e9441bdf phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:def09694-b33f-4fa8-a869-4f794319d9cf phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:2f892914-7b31-48c0-9e61-6a7c40bcd7f3 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:d1086961-9b87-400c-b1ca-cd4afaa5879a phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:d0f748f0-f883-42cb-bdf6-97a794870f82 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:54843698-8749-4a3e-be19-239ab63c641d phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:34a9ad57-63b7-4dbc-a3fb-ebcc2fcd45e0 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:879dddc8-40d3-4ee3-8f14-bfd3d3905da1 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:b0a46383-ebd6-4807-bb00-1045e068acec phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f80f5761-5b27-4299-bda8-3d55b6a59fbc phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:bfebe25b-2602-401a-bc83-63ad1865bb61 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:657addab-4c46-4d03-a736-da0413d7a2e7 phenopacket.store:FGD1.PMID_20082460_case_8 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:39d4574b-f6e1-4ec0-9e79-613f95d4c010 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:52b81781-3584-4dad-9058-50059ab5856d phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:bb04a38c-fec5-4f1a-8559-93db5a1e4aac phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:98568b2d-8005-4db5-8722-9daea551f885 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d26e2e8e-fda9-4c39-a726-4ce4cf8201e1 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e0c67ae3-bde4-4f70-82c8-2ac63954a5ea phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:071cf9f2-4ade-4b5e-a5f6-87b88b523ff9 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:10ce0c14-1d0f-42f7-9aa8-e9cdfe81a443 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:236d579e-9bd0-4b08-b1f2-58ff3fb3aad2 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:87473e73-b5d9-47a1-8cc8-58789b86d60c phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:acd65ef5-d386-4205-974f-a30d17327e5b phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:dbde6df0-2819-4139-a7ac-7e0580786985 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a859d9a3-0b4d-4916-a760-bb71b7b1b2c3 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:2a844453-d16d-4cf4-bb6a-5320892cc5cf phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:7e32b152-eecd-4fd8-9d21-15bc41900d7a phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:df4e823b-be4e-4c4d-99eb-d45db0f4c673 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ddc055c0-e87a-474a-b283-b0513800a6e7 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:6eacda40-a00e-45f7-8017-e6315d8d455b phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:1d4da462-0267-476b-8596-7f98644130e5 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:311f52fc-3f91-4a81-a2e6-ca3f831368af phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:3c24c254-cd22-47e2-8878-16ba7798e90f phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:14560308 uuid:ab205ea3-ad36-4de1-b191-12b0e4cd4159 phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:b39ab63a-c14c-4421-b6af-4bd4042663a5 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:da7fccb8-8e10-4cca-a9e8-66e3770955c6 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:59f79fd0-9dda-4c1d-b969-6adc21ac1b38 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:56b72017-7665-490d-a3ab-74078ad2812c phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:ed0b274d-d13f-4098-a49e-c06a935dddac phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f9a8a562-402d-4ae3-9432-5889f80ee4e3 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:571cc61b-def1-4700-8d79-2c14ea32df4c phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d1744a54-92b4-48e0-9306-46d24863f146 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:fe40962b-d672-4653-9b11-8b3da26b15fa phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:25c822d4-87c0-4289-923d-2aa975581d28 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:0130bbbf-1dbc-45dc-8da8-a36657aaa424 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:bbec956c-5f9c-4dea-970f-d132dc2025fd phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d8968a85-3774-494a-a3ca-c1c804273c1b phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:55b1ca3a-54a0-4672-b2bd-b6761977fb23 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:70ce0f6a-643c-4e1d-b8d1-7076e333d98e phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f6f24f33-7d45-4cd1-a265-7e6ca008b71d phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:67da9455-3ec1-4a97-a644-a73f864479f4 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:2accadcb-ef7a-4526-8efc-32a14e56f6ca phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:392e2ba8-118c-4d1e-ab2f-31324d9c3150 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ec8107d7-9668-4b1a-8abf-c554e36ea10a phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:c00e7ed7-c28b-46a6-9b37-9c0000346fa1 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:1f3e5425-4a82-4902-8223-da5c20ca05d4 phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:1e75a3ef-69f7-4d4c-aa64-9876d9990a1c phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:67d2fef2-79e0-4a2d-8d9a-3694a5c5346e phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:aaee2edb-5438-4a3e-8172-0f4877a796e6 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ade41513-ab3e-4713-b9fb-352a4968501a phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:85c22392-ad6b-49ce-8779-85ce68d523be phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:fefc4506-7d34-4279-9e6c-1ab9ea2da6cf phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:c5c17251-ca37-4e10-9cef-aaf5904295c2 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:3033fe96-58bc-46fc-9d7d-ab99dfd73a80 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:68fd7536-7221-4a6e-8e90-9a1e8ec22259 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:3ccb8787-c6b5-4c92-a3df-841fb3eb1b67 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:93e01be2-4c2c-443f-9bcf-b34372b1bee5 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a664642c-8e4f-4609-92bc-d832b927f839 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:d513233d-0eb1-4603-82b4-ef3e6ca4be4e phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:99578ea4-b30a-4b25-a821-cbb7d86e15d4 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:c5e4cd96-62b7-4e75-87c5-e50f056adeb4 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a54acd8d-a8aa-4253-bf6c-1da8ef204ba8 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:5519f4ff-4005-4340-9a8a-84c094021d4d phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:3cfbe82a-d36b-498e-8892-ad09ce5831fb phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:0ebbecfa-4f14-4099-9cf2-c63383ae978e phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:b0b5c696-659a-4405-839a-ab8f9f67f1c4 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e71764f4-fef6-4cbb-b42e-ea37e0aff9bf phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:c28b652e-f5fb-4e52-9594-3429847979f9 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:73e2e73f-5b4f-4874-80bc-acaf479fd679 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:4e8f15e6-2e79-41a5-a62e-ea0abeee30a7 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ab4e889b-57b1-4ad9-bb51-16120e1bc59f phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:fda33532-4bf4-4d06-90bb-9d637b060b14 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:cfce77b0-543a-45b8-b237-af874d45aa4e phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e665fffa-d2db-4006-8292-98d8123d3437 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:68138214-3551-4751-957b-d8a00bf6aa25 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f76aabac-65b0-4b6e-96fa-858263340bbd phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:e73fc79b-4ac0-4367-b8a8-0e38b220c4c5 phenopacket.store:FGD1.PMID_20082460_case_11 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:9f3032ac-33b1-46a0-9c68-13d7665dc93b phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:0fb0f268-d980-4ea0-aeb5-5577512f8fbc phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:9be4917d-8c46-4637-a603-95b810c28455 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:13b64a87-ef2e-47e3-92cc-3e508d9db1a5 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:d6120dd1-adf6-469c-bfe9-cb3dab330e20 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:b7bac2c5-8570-4468-8d48-2c30f3c4e091 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:719ed5c9-1fae-44e8-b712-57ed13c1b4d8 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:4d8f6dfe-d308-4919-b813-cd21d64440a6 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:b6473d63-e9f7-44ff-8d3c-6f97ffccd564 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:b2b9647a-2ca7-4d7d-a0a7-0910533aeb60 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:fdec7be4-26c7-426c-9ed9-609424cc5963 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:a7775fb5-2f04-4625-ae18-401c2796bc8c phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:6463a7e1-1680-4b25-904a-eae72c72f5ea phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:c3673e45-41c6-4cb3-a1cf-876eedcf08a4 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:f465439e-769a-406d-b16e-ca2754b25860 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:c24d73a2-abb4-4c26-8171-767a9da37625 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739585 uuid:ab842b53-6173-489e-ba50-a070ac8ecb80 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:7245528e-f2a9-48ea-b6cb-f1a0733050fa phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:d8f4754f-495f-4a35-92a5-aa53482880e1 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:098b7598-71c7-4278-937c-18da2a1e915b phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:e04d0916-a2bd-4468-b11c-83769a0d2560 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739585 uuid:92f1673a-57dc-4c81-abc8-27f9469b3f20 phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21739585 uuid:b2a99aa6-a384-4c3d-ab46-8c755843977a phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21739585 uuid:63e1a2b0-16cb-41ff-9834-4c2c4b794aac phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:9ff81929-f188-486f-ade9-6ecd144df322 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:5f7c99e7-c4d0-4b2a-8307-70dbe1b36dd6 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:b5b6bf2f-91fc-486b-a5a5-b876e7aecd0b phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:bac52cdc-ad8c-4ed5-830a-e65a7e42ac7d phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:8f1f5ce8-5b24-4a1f-b8be-53087d2c1ae7 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:17bf9d8d-2b3c-4d27-bc51-fa315a6372c7 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:2fdcc117-4742-47f1-aaea-00d396ade9fb phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:92a9bad7-7e1c-4d2e-90aa-b24ebe3b62b9 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:498acf32-201d-4a0b-9a66-795a718d7e32 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:43e3a1d8-6eae-47de-8e1f-0118cd61569b phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:16578a4e-946c-41df-9c1b-ed6abb378650 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:27f7ee2f-668d-4425-98a7-fd2cc1414e29 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:2e7912ac-a6d9-4a13-b165-ca7d55c3cbdf phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:235509ff-15ac-4884-a628-ff6b01e34c36 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:0a81a09d-eafb-42e3-bd92-41eecc75424b phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ad388f8b-d293-4290-a415-10aa5ba7afe3 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ad0a0cdb-a458-4078-b812-f2b466ab1570 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:10c4f036-e8d6-4284-ba61-2fc561eaa081 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:b94789d3-e3a3-4dda-b19f-bfacac06dfb2 phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:02b28009-7f6a-4236-9979-c4f09877477a phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:a6209058-d51d-43f2-ae61-6ae347bd20d3 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:882e8bb3-572b-43cc-8c9a-58348f862422 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:59ca489a-e502-4d72-b6ff-972088257cb1 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:17708c4d-7ffa-4891-8628-60b37cc58c0c phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:3ccd9522-dfac-41e1-b42d-09e5928583f4 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6b9b10ee-c7c5-4b74-ac7e-a133518ad798 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:4fcd2a0a-4647-4145-925d-c0e9d0a71609 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:83ffa239-c8b0-4290-8ffa-f42f6bcbc89e phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:b4c0fcdf-b4bc-425c-a0fb-c558b7306187 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:3f8c43d7-2e88-487e-8eb6-85af66fd08d5 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c8526c6b-8bf9-42f1-a7ff-e63927b525bf phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:717e18b5-bcd9-4774-a48d-434757ee9af2 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:0d655b82-3c15-4072-b9f2-380d67b2cafe phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:3a111002-87c6-4eb3-ac46-8d8cc8c3a638 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:9014428e-7021-4586-93e0-647cd71372f2 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:e7f01346-9199-4392-876a-6b4861521b5a phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:8de77f6f-6e30-48de-89d4-dab3bd36798e phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:2de2645d-6f81-4c55-bdce-dec239299bbd phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:edc694fb-8148-45be-9ae1-e78cad3bc515 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:6d5d4071-fa89-4100-883e-7b6b21982662 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:bcec3c63-0be4-4dea-bae9-0b365d2f7057 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ee55a1f3-aac6-4c10-878f-db62a6319c0d phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:055b1572-2cbe-428d-a8f4-55a60fb4649c phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:81a2c156-f98e-4d84-905a-053a8ed44547 phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:5aa9054a-af47-4fba-a1e5-656fe9ec3450 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:fcbcadec-702f-412d-b61b-6e4ba46c0a32 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:bc070917-fd71-4050-b772-a974783cc138 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:e09d876c-0241-4e57-bac0-d00607b23f86 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:9ce20f4b-626d-47b4-aac8-d8345a6bc290 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:61fe169d-df06-4cde-b1d2-4fece27af554 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:f9f6744c-4c4d-47af-861a-ce618a8cec96 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:ba957959-7e2b-47bc-90bd-230b6bf1d771 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:4de6ef58-7240-4fbe-a4c7-0b72ef863303 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:3a490c51-f48f-464f-bb93-fc2616fd9b12 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:bd648204-b805-49cf-94bd-6d64c9ff9d9d phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:69ef0e38-5616-45d5-b77e-bcbc3aef0fe1 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:3c9b659f-a4b7-47bb-89ed-1ad0ca0165e6 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:2b89852d-fcb1-4edd-a6cb-2a73837fbbe5 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:5ccf3747-5ab8-42c5-a336-e6c64824b756 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:e28ebaa4-e5f4-4f2e-8f6d-0d448d28dd0a phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:37b1e195-bf1a-44cd-935b-b6c7b8cd18e1 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:c6f72247-03d1-4b67-b1b5-53b8cd991f42 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:5f3bcb51-2ec3-4d9f-8678-3d39f33adbd4 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:c92a13ff-5ec5-4188-be37-eeebc9d03a2c phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:062c27f4-e132-4f36-84e1-d10827faccc0 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28103835 uuid:6ad9334d-63ba-4129-86ea-4be7cfe3a3f0 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:6ce6b53a-1886-4267-96ff-1f99cd4859ca phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:29259d91-93b2-4f55-9b40-10050d190f08 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:4759cf49-ffae-4858-9358-c238595fed51 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28103835 uuid:46cb83ff-d327-430f-99a8-4915871c2523 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28103835 uuid:2dc91f09-5554-472a-8b7e-ca70edc96410 phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28103835 uuid:6f5d3543-1e26-4b4f-b9fa-0789bf92603e phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:c8190fec-4b98-400c-b147-b4514025bfab phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:648f58c8-6075-47b7-a1a3-cf5ffb030875 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:2ec49e7d-1ce8-4637-aa59-1439323b2820 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ac9bdc03-1a34-4cc0-ba8d-0ea2e23a4365 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:5287a14d-8937-40f7-aef0-47d1e8ab5573 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:1d8b6566-60e8-4ac2-8411-0afb3dae8747 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:39be15ea-ec2c-4174-bb75-ebcf9e1ca0a7 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:af0339c8-ecd6-4369-a1a0-e2cad601c88c phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:204cd2ac-527c-4001-8e02-45b62e8fad63 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:b0085508-ef7f-4c8b-9316-caf318133118 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4a82ab7f-c253-4f8b-9dc0-bc82c8f59981 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ca37f627-d254-4aaa-bbb3-5434cd00c7ee phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:fcda62f2-b1e5-481b-b5aa-bb4bef872029 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:0c3bf6d7-40dc-4848-8737-588320476880 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:aea0b524-8df6-49d2-9fd4-8591b80f8aa4 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:a099ae69-c892-4627-91c1-cb2f7f82062f phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:6f172e55-ca25-406f-af5a-ca834bd04b93 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:7d1fa5f4-a734-4863-8566-11689772f9af phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:409c448d-c1fb-4745-8a05-e9f9eea0a072 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:601a543a-5095-4891-a180-7f9bdcd6c6a7 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:794bca75-e16c-4a9d-bcac-dd16bd79f7ec phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:2bd5bea9-71ed-40e5-a129-36168df25736 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:654f915d-2677-4937-9925-99b72be01e2f phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ec875b2f-021a-402e-99f9-df2d11a97180 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:66bf2c2f-1430-45b2-a63a-a3e064b554f6 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:4a169267-bc4a-4d49-ba20-9655f35f017f phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:91033ee7-a9b8-4a44-a805-4ea5c1f80919 phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:d9b4afcd-d37e-4223-acb0-d2cb51edfc3b phenopacket.store:FGD1.PMID_20082460_case_10 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:b65562ee-214f-40b3-9d94-7bc0311148c8 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:03baf73d-d147-4961-8e94-89e64501d208 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:5e762f61-8fa3-4d5a-9b8b-5be9c93751b6 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:bfe5a1f7-8450-4a09-b2da-17ab52b5916a phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:1cdfdf31-d73d-4f22-b973-5b8d3c30c414 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:1956a594-83ea-4c8b-8dd3-f262c4330586 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:fab1defd-39f9-495a-8149-9a0da1e99209 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:42cadb59-4751-401b-a3d8-21ea228c956e phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:bd2654e1-d74d-486a-b8b9-52368770732e phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:e7ba3592-66c1-48bd-a319-5d63726ee90b phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:166c3692-6a51-439c-b9d8-8fe6f84ee7d2 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28587322 uuid:20f8fea9-b2c2-4aac-832b-315c08bde667 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:2098ce51-f91a-4a0f-be69-af3bb5856501 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:8326611b-58ce-4127-80c1-fc9413f61ec3 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:b4275a89-3540-4c42-8958-d5fda01d8298 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:c2edc65e-f0d2-4982-9864-c0f877155b07 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:4ede5243-d44f-4cd6-b900-c4f282523cdb phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:565e1c6d-2dcf-441e-8d06-90709798a615 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28587322 uuid:65afd1e0-4dd1-47a5-9221-a20c35c6870c phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28587322 uuid:a2004844-fa14-43e8-8a77-1f3d582b75d0 phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28587322 uuid:1edc43d5-dfed-4a22-94a2-ea1efe1d23bc phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:93313190-b0e9-4e6f-9947-c5dbccf81290 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:de2612b9-4290-46b8-af5b-9e7cac38fa06 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6aaad9a0-a2ac-4c07-8d95-a0becea2d91a phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f0bb570d-c907-4b40-af22-f704fdff340f phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f5d52336-3e90-468d-b753-fafc39b69531 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6d940b0d-5d4e-4e4a-90d1-2bbbbf5b7103 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:abf98e29-c352-4f68-8024-926ef3f60045 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:9f7398c5-fd80-43a5-b3b5-946357b760ce phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c75aff60-4458-4ec0-a1bb-faa776c69943 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:06badc4b-5080-45f4-b2b6-dbdbce620fa3 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:502e75c9-f9e4-4243-a496-e0179087fc31 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f37fb74d-9ed3-4971-af98-5a5623273c20 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:fa6ff16f-37b2-429b-b6a9-58844864f2e4 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:9c2e9aa4-4972-41f7-8e3c-94de9525af5f phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:497871f2-4488-4ca8-8d54-66a8711c772f phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:6111b3c7-7546-4bc1-b170-ec32d87de28e phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:70fb021a-2151-4f68-88fc-299a87579348 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ab7940d8-829b-4421-b654-35965146f3b8 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:b32c9598-bad1-4b87-b284-82a488300dfe phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ea509fe9-8dfe-4008-a282-080c440c2985 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:eae6fc2c-8220-496c-84a6-d0d0cbbc0c13 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:7cf63927-2b6e-43ec-83a7-d13f0d837eb2 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:b67fcd57-9e07-4557-9bfe-785b2e7c5812 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:14560308 uuid:0f23b3a7-a5fa-42f6-9df3-04597b9c8979 phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:29f5ead8-deb4-4cf2-81e4-075c3f07f2ff phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:55806bac-a893-43c9-b9ad-3ab2070536e4 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:bf2084ee-05cf-4629-b6e1-18a02228f2fc phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:642832ab-9c54-4452-8c3d-0a512bc4c203 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:8223ef6f-04bf-477e-972b-76ee5b86b37b phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:f035429f-8f44-41d4-b161-b622a9314c4e phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:8cf23325-f5c9-428f-8189-6447df5226dd phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:5e566cc2-56d2-43a0-8939-16142b5d249a phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:45e48b21-5f50-4312-942e-6f1585fa5d65 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:734b211a-b99f-4d80-90b3-3d463fa68e04 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11093277 uuid:9dc63ec0-52e3-4511-b209-77f61cdd0ad6 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:5cc7a726-712d-4a18-b303-c57276d075e9 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:2fc3f796-ece3-4291-bd46-d4381671d8dc phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:47756083-2451-4c7e-9b45-c044a91cc0bb phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:94ee6211-efef-44dc-a245-238e82bb5133 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:16023cbe-edf3-49ea-a1b2-1487d42631df phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11093277 uuid:9a30e561-0fe4-4073-affe-62784388006e phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11093277 uuid:70484ce8-9b3c-42ce-ad71-2ffaf494a3e5 phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11093277 uuid:c7bbb54e-b793-45ca-9c4b-dcb2f3a7f1b0 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:9724b1ec-692f-4d66-aad9-887d7573a7bb phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:6d785b4e-70ea-4842-ba02-7cc3d53161a6 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:0f93a8b6-58eb-42aa-8b1d-4bf346de558f phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:828e6d0a-1052-4e55-980d-df5efb30beb5 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:452fe928-0bf7-4637-9514-5c1673296f91 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:58c7a112-7e83-4f9a-9875-3307e52cd05b phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:eb356c55-edcd-4a22-9ce1-6fa3a52e0400 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:aeb89836-5e11-440b-ac8d-4a6fd9b1bea7 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:bc9739e4-a6d1-4bb6-beb4-b0ece1762d5b phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:6a7ace80-aaaa-47d9-967a-2ac3880deed0 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24770546 uuid:4915f602-6b27-41f3-8a7a-71f89f9ed62e phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24770546 uuid:a29e0cb4-b7bb-4329-bfb8-5f710dc1f5ed phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24770546 uuid:399d15e7-cb22-4e52-9e4f-6259d51abdb6 phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24770546 uuid:c8a7cf71-1f7a-450e-b688-d8d19ace9e9a phenopacket.store:FGD1.PMID_24770546_Case_report biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24770546 uuid:027e46e1-12e8-401d-ac52-5a59cb61c8ca phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:1440cfc7-15cd-40d3-984c-9763b0253947 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:7cd474d6-42a2-49cf-b08a-e5495cf010cb phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f49609f9-db58-448b-92bc-36937435b4cf phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:e4ab4095-5c7f-4425-a175-c731b17ce966 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:e2427aeb-89e4-4fcc-ab63-c1d16000851c phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:bd27ed3a-63de-41fc-ab61-c436dcd958c7 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:a076fefb-a231-4cad-a1e9-29f922789599 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:cac87c00-c6a1-4072-90a5-df19607dc5e0 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:874abd8d-50a9-4f49-a3df-ea8f33ae1fc4 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:1579de0c-ab5c-46a3-9077-55e4e53b826d phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:78860f0d-cd3e-461e-a135-a55c1a7fe8e2 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:45aabab7-5241-4080-aef0-a1a0afef8a7f phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:823555d8-ae23-4e04-b9a4-2754fb2f58bc phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:88bf96d6-a699-4bef-921e-e788e1e0541b phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e7d5d26a-4cf7-4cee-9cb0-ad8ef20f6e73 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:906bbf86-141d-44c6-a41b-254e0c7e56d7 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:94e56de3-516e-4d60-9b7b-8949227b6355 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ed5500ce-8f5f-4b6b-a7b6-30d726ffed95 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:21e36ccc-33d5-4946-80bd-c19f7d4b7e0e phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f575dbaa-be0e-472b-8224-28dcd4e239e4 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f6badeb8-4987-4f41-9d47-6bc5e50c1e18 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:4abf2663-cbb4-4c9c-9252-da9c7200a39e phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:213952bb-dec6-4f40-a35c-2b2ca529b4ab phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:218fb33b-3c87-4ed3-8373-061ee21c6ac9 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:a90fe0c7-2deb-4071-9e1c-d490b0d5b783 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:6cb86d30-9250-43ba-a8cf-59afcad2aff3 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:71281995-3155-46a0-945a-ddd11c689941 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:4d97bd92-0cf3-445f-8574-321d3af59431 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:3c2a8c0c-9468-4ff3-a73d-2b248f5e11d8 phenopacket.store:FGD1.PMID_20082460_case_4 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:1ce2ec2e-9d3e-470e-83a1-59757c354365 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:8a883932-9354-4d26-9138-510d5f80ff69 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:e09dc92d-978a-4639-8b3e-11c41181cd31 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:1556e23f-8030-4f76-b38e-a3641360d3b2 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:cf8af518-804e-47e0-a423-5dd40b1371c2 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c30230b5-193f-450c-bc77-c781f0c46006 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:114c19e2-1139-4d17-a655-926373074f06 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:ff509099-aeba-4b14-b52d-01446b83794a phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:531f00d9-6b15-4ed4-a4d6-63dfa772a8ab phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6d24a74a-7922-446b-b329-86e192199c7b phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:b8365876-a753-4d7b-9a93-201d6ad98f5c phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:04b9c3fc-3bc1-4125-80ab-245b228f9e04 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:744e0d70-daae-468e-bdb0-494c5e3bfc46 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:82b0638b-6e68-4145-8775-05938f074160 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:c1ceb638-6fd2-4e51-8a22-19e6f2fff8fe phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:7d10b52a-2b3c-41d3-a94d-b5c8fe90dcf2 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:bf4d3e30-f96f-4aeb-8eb2-497af4e1cb01 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:063a53da-6227-41b5-a066-cee1e379a358 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:dab5ab02-dc49-4da1-9f0f-d23173a9a86c phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:bbb6a47c-b788-4603-b036-49fa893b0155 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:088b6e38-8871-401e-808e-7e22fe98b093 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:ee69507d-e1a0-4498-bff9-de70ab146581 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:12bae6de-ee83-4495-8838-62354ead8f19 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:78d04648-1069-4216-977a-803219106ce4 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:8a5754ca-1070-4f3c-948b-04a545687ad2 phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:de05afbc-a623-4b8f-b794-7e6a1c0a944f phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:91c17c23-6100-45c2-8ee7-3d0259a15356 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:69b45284-eca8-4f3d-b64d-bc0c5d1dfabd phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:213b8037-08bb-406f-8eeb-c7dffe88e501 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:37d5a149-2bc3-4da5-bce4-821db1e6207d phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:da4ccf42-34e5-48ed-ac9b-4b20f788b7c1 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:06a021c4-99b2-4ed7-a16f-0635356843c5 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:18190151-0ca1-4254-9307-c577c6c3c8a8 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:e6b5e3fd-7f8b-41c1-b35d-2893e4b874d3 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23211637 uuid:321669f7-e260-47b5-b6bd-45affd4309c8 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23211637 uuid:7e35b60f-445b-4e5f-953d-90351c345ca9 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23211637 uuid:a31fb3c6-437c-4e88-b414-9bf244ea2abf phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23211637 uuid:5931962b-06df-4447-8e57-c290d82f3519 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23211637 uuid:eb9103f5-e8a8-4b26-9057-4fdbe51aef22 phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23211637 uuid:17abb2e0-5cc6-41a6-afb4-07cd00b061ef phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23211637 uuid:46bf43a2-0930-4b88-8bf4-a273ffb137fd phenopacket.store:FGD1.PMID_23211637_index_case biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23211637 uuid:fa615cee-a7e9-49de-af3f-789ca8af16d9 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:022633fa-fd75-441b-a8eb-be2d90f4aa73 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:bd56a487-0f7c-4fa4-8ede-e6244ccff40a phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:cbfee6cd-25dc-4bb3-9a64-0ae69780cbd0 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:846be8e2-cf27-49ca-9754-24b7a342de1a phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:26b54693-30db-4e20-af8c-b11908151c52 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:f3e5f5ab-6c43-4213-8196-8f559be809eb phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:9fe73efd-5441-4c37-836b-92e4bf6290f3 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:4c1bed42-cf8f-4c0b-b447-b8fb9be2aa4e phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:d69d22b0-7d2d-4088-a67d-af2575662869 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:3389e0c4-adda-492c-bb9e-62b307c4714f phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:b7724a44-06fd-4b42-b97b-a321598c0676 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35388608 uuid:6e793c3b-2f6f-49a1-ad89-59ab84832c3d phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:fdd88329-53f6-4b99-bcf1-c12247a255ff phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:3f3afac1-10af-4ac8-ab7b-9c6cb119af02 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:5748f2a2-107c-4afe-933a-990ef4985d44 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:dd3252da-14c4-472a-bd92-e1e29c0958c4 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:008a8fb0-a712-4307-9816-2ed32d40d50c phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35388608 uuid:5ef3c8db-0ac9-4122-a1e2-e7ab5305ef03 phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35388608 uuid:988d7083-ae24-43e7-a94a-a2e243aa2d2d phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35388608 uuid:bccd8133-57c5-4402-b562-b8ba94ce4476 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:2ab42f7b-07d6-4b52-9316-a8e639ad8266 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:d17dc178-f911-4fde-afde-883556d165e9 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:23f969b0-b2b6-4269-9b7e-a63e2e58005a phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f1be7506-3916-4dda-9fbc-f371e53add5a phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:00e5644c-15fd-4b70-ae77-5b5bfdfc3f84 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:cea5eb69-eaa6-4353-93b7-f607f08dd5b0 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:14249a1b-2681-427c-8956-e0bf1b621852 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:7c7a8928-125e-4a8a-b4bd-64dcca20b613 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ac1080d0-5600-4537-b520-5229c69cd612 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:838a93af-a9eb-4098-a013-e346585de001 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:6522c8e5-3738-4200-90a6-62bd885763b1 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:52787c8d-2555-44d2-b7aa-89d2d2d511aa phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:572201ec-55cd-444a-8bff-c732295a4348 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:d8682e30-7a0d-4b5e-b69e-bc728727a4d9 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:9b31400f-be36-4d23-8271-653236e83584 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:92925594-8470-4a98-9bee-fc516a27e7f5 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:558eade5-8a15-43a1-ad59-a656da867e52 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:270483c0-e720-47ec-bfb2-af8c76aec0b3 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:b36beb37-87a5-47ce-8f6a-f9c45605e297 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:552148e3-b4d7-494d-bb87-ce7a130abe2d phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:9db4db8b-ccf2-4c7a-a495-c8cc92278875 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:bc3c327a-a01a-4dd9-b5d4-84d7e5940f18 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:aabc7c6b-271e-4a27-bbba-306a919a5a35 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:7049c7c2-451c-4b34-9c3c-f586b90f65ad phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:b2a71946-a138-4268-b93c-62241aff001e phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:038f6308-9b3c-4fe2-9b31-692187ef9b4e phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:0b214b88-604f-47e3-82dd-f6cc05d9bf54 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:f549da68-32cb-4254-b39a-f63213d99ab5 phenopacket.store:FGD1.PMID_20082460_case_3 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:79010d54-803e-426e-9cff-78879715083b phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:34ccf10d-414e-4b59-bb8f-c1cc1c60d6b5 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:bb6276d1-0989-40a7-893b-bf7540a1f977 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ff1bb828-cca0-4a77-a408-f00fe4f28efc phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:238a663a-6731-4372-86b7-6c3761c6dedb phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:07925448-6c4a-414d-9bf8-60ccd60b04a8 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f79c3643-7c09-47ca-a922-4082ebd8facf phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:03e641dd-badf-43e3-9a92-98ad380a3c9e phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:461b13ad-c51f-46f2-85e9-c1525b308ce6 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:8eb9a5b2-248b-42f7-9226-7d19d883ae0a phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:3fd57085-c64e-4e95-b0ed-ad3dafeafdda phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:296b2934-afb0-4bc5-a795-618e5e40f99c phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:888f5adf-4a1b-44c1-bdcd-b21e3f6538c2 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:bf826a3c-a198-4e31-890e-8b39a89146a1 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:24ca6348-09d0-4a7f-a2b4-615b2cc92df8 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:86ec8772-4944-476c-b8dc-11b0140909f1 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e22d94be-7c80-4a34-b60d-c89a8e6af822 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ac072686-8a90-4e4e-be0c-669aa1075ff3 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:aa3ba184-de7e-4911-8b3e-0992c4adc376 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:b573a325-7419-4917-a3b4-f448e52b0cf4 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:d0b52de1-dbd0-462b-bccc-d3fb9eef885a phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:8f055323-2a71-46fb-ab62-5bf0928c33e3 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:fe4a9dc7-3b9b-4045-a1d0-a7808ffa76f9 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:622f8f23-8a5c-42c8-af6c-47f7a6249236 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e2c1c6f3-c2e1-4788-9179-6f987e791573 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ad29fee0-aee6-4a10-8edb-5243c40229cc phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:ca2b0257-883c-4c3b-bd7a-f31334ae9b3c phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:a23453e0-9869-4a44-a44f-e1709eaa4b54 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f842260e-a014-4e20-bb9a-d06a4d53e702 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:eeb109e2-0611-4884-928a-57c87bc193e0 phenopacket.store:FGD1.PMID_20082460_case_1 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:1afeefcc-b44f-4fe8-80a9-5d1b99b7040c phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:40987310-745e-471e-ad1a-4dcc60c3003a phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:c4389207-d602-4c9e-8598-fee3976dc9b6 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:2297240e-fe5c-4fa4-aa66-ddff68536039 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4234431a-1f80-4e17-aab0-40bce70cacca phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:2cde63bc-7fd4-4966-8b64-f53b223bf9ef phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:eaa7100e-550f-4d4e-b7ff-4b47de1a628a phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:6b90939f-13ca-4b7c-9fed-035882c095de phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:4ac3ac53-b513-4897-994e-403948ef5143 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:ead43e7e-015b-4915-99b5-85d86ff52e2a phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:25af4934-dd93-4659-8516-6648a9121a63 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:f2d7b6dd-9a4c-4014-8250-2ea9ca5c30c9 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:26b28e36-f060-427b-8a6f-ebbaa9ee3cb8 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082460 uuid:e3e1c5eb-90f1-45bf-ad5a-40013511bf08 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e8b8dc9d-30c9-498a-ba23-721e60e0457a phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:9770ebf3-7981-4ee1-93a5-74219830855a phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:a192d3cf-7c3f-42fd-9c6d-e0fcb3e60e75 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f71366a3-cb9c-48cd-88c9-6ba25dad1854 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:e750195c-6f0d-49e4-8715-f9974595947c phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:afccf3c0-f784-4426-899f-df994cd6b800 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:1c89122e-f62a-4661-96e8-fc4830f17aab phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:42936bbe-6023-425b-a2a7-1c6f47ea1c17 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0002055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:5cad0cab-2195-4cad-b811-95854521c602 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f1a97a7d-db76-4326-9837-a35bb4639497 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:f2269c70-0cdb-4961-9d18-cd17f018ba6f phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:a4daa6f7-5c38-4a0f-b831-8029c3597bbf phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:72b1cb6c-859f-46b9-bfa5-6741f2dca863 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:0469e635-68ce-45a9-b4ae-edd8ee3fc6a5 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082460 uuid:843deaf4-407b-4ce6-9583-831b82166ae0 phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:9d474c15-2756-4668-96fc-8de502d30c1c phenopacket.store:FGD1.PMID_20082460_case_9 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082460 uuid:41718d10-ec07-42b2-b861-eb303bb296c3 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:d89eab60-aeae-46f2-a8a0-4201d0ee7270 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:34f23b1a-b793-4ca1-9b55-99817bbdff22 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:01b46c94-145b-44bb-8776-f1b40882b39a phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:f56a35c7-4852-4bff-ac74-10f65ac08e8f phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:5181fa46-0700-4e48-8e43-a3d4360c3cbd phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:a7da23fa-b2f0-4e2e-abeb-93f5d54f9a85 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:0c153996-a269-4181-b3f1-e10103ed08ec phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:bea54408-f5bc-4c6f-a06c-b147089435c2 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:eadf0b6e-3146-4373-9782-1419a437ae3f phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:9128e180-46a7-4734-a315-1f4f22e9a53f phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:2637ace4-80be-4c02-ac32-5b23964fa51c phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:b5cbc4b0-08dc-4fe2-af66-8eaec4d642a7 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:6a50c4d5-9421-4489-87af-54702bea0ab6 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:bde4603b-514e-41fd-99a3-8dedbfa9e8fa phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14560308 uuid:5df9bb1e-6e19-424e-8b7d-6be7929de36f phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:e8f2a53b-f7df-42ff-b026-053af7771ee1 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:e773a108-b322-400f-880f-8e810baf03c0 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:7f68d28a-ab76-41ed-a9ce-0aaa06d658cc phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:3b189ed2-bd8c-4b29-abfd-d25844ab2fc6 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:86b264d5-626b-406e-9c81-bfe4e1755a4e phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:daf477f4-ea87-4177-8a2a-25d7ab1e0c5f phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:bfed42e9-511d-4358-bf1e-47c6b5ed02eb phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14560308 uuid:9fc3b347-87c6-4e1e-8a3e-e47ac29ead94 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_disease OMIM:305400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:cb2d84c2-79f0-438b-bd5e-f22d7a3f9280 phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:has_gene HGNC:3663 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14560308 uuid:f1965cf8-f82d-4958-ba67-8cb3e5e3381a phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:8f2cc4bd-5066-436c-b3ab-f6ac13fa0d37 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:65e2ac5d-7e0f-4d47-8b18-0b7c41817fb3 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:c9f7e91a-d70d-4d81-b33d-fbae53245079 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000244 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:c7deb2a5-3a7c-4d70-a3cf-70268454db10 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:40b6d5a3-d5f4-41bb-9a72-25be40f24231 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:9127d58c-0429-4fce-a38c-3421b8e5aa23 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:6f0c1bd5-4f9c-4e6f-9134-5ee0c59d36f5 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:2c118672-ef14-49e1-b273-c7871e219a95 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:45bf1556-d0c3-4935-8710-b5295e08764d phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:7cea18c7-67d7-41a0-8707-aea9f8c09300 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:16a0cb9e-33a4-4ccd-a28f-5961ed6d2bbe phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:13a987b0-6765-4540-9cf9-0bd07bb07186 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:d12c4e60-8f0a-4b01-a0a9-d0df543c43e3 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:a6611a02-6e01-4438-b55a-6c7d8cf52f16 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:4a3834d6-8886-480e-a2dd-e7d003b1517c phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:77d050a2-7322-4cee-aa62-afb9a6616c22 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:09903699-b4f4-4a08-b081-3be727146fae phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:850335d9-8062-411d-8da7-9d7b33f39dbb phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:4bc01d49-8ca2-4d86-891e-4a12fc89bc8a phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:2b805465-9842-4c10-9fa1-0d7889095cc1 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_disease OMIM:101200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23546041 uuid:8d78f570-e077-41b9-853a-4a3d145284e0 phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:has_gene HGNC:3689 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23546041 uuid:ea99ab69-f047-4ec1-9427-aeeaaa022dc9 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:8ba9cda8-2499-4853-bc40-828e769e3f56 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:bae3d1fe-c51a-433b-992c-c84cb4e8c453 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:3d863901-559a-46f0-9fa9-f0b009a37eee phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:ad1bffe5-d25f-43a8-ad46-1a261977007a phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:446a43c7-84f1-4b08-9dbc-f51f3af9de18 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000244 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:44435ed2-7907-4030-af4a-25f3fbc6caba phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:ff9bc745-2d4d-4af8-a7be-e921cbd464fb phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:449cb3fa-ff11-4949-b5b3-4077a6249e57 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:883f2e2f-faa4-4db4-99c7-3b466368b4e0 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:24fb4444-8fb4-43b5-8fc2-5744b8344237 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:8baf0599-54dd-4e0d-9444-38f4bfce4997 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:d0ba5121-877d-493b-9f83-8da3a2abaf94 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23546041 uuid:7d8e4ef6-ab65-4e5c-8d5f-2515afda9215 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:12867425-8175-4608-9ed6-129313fe0b4a phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:df94ee37-e98d-4a23-bb5f-4b068da948c1 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:09828f69-af39-4d66-9fdb-20d5d35ee404 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:57be5f46-ef27-408f-9eab-1b375ea15222 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:fff98271-d502-435b-8b74-a236fec1db09 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23546041 uuid:4dbd6c3c-c6bb-4e5e-8cd4-d67d59eb9228 phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_disease OMIM:101200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23546041 uuid:90983909-3d47-4e59-a9e5-8549d0576e9c phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:has_gene HGNC:3689 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23546041 uuid:a57fd3b9-9ce2-418e-8645-9ea01d543f77 phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_phenotype HP:0011318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26740388 uuid:e9c7aec2-f351-4c64-89a5-5b78f781cb15 phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26740388 uuid:b5909a35-c921-41b7-bc0e-2a3d07ddcaab phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26740388 uuid:fa4d178b-9e0a-4664-b6b2-c8b7cb25a411 phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26740388 uuid:282684e0-f7bf-43e2-83c8-502468dbfbe9 phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26740388 uuid:736e6894-4bfb-447a-b3db-0c1976253686 phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_disease OMIM:602849 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26740388 uuid:64c60497-18a9-46b1-a8ee-8bf7b50a0d04 phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:has_gene HGNC:3690 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26740388 uuid:6eb001cc-53f0-4d6a-bb52-b6de7d542b19 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0002970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:c2c8df55-146a-4cee-b455-53bee22c9bb7 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:76ec5769-ebf6-47b8-856d-17b305c2e71f phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0100864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:ae095a71-37a1-4e6c-9826-0d2a717472a9 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0008450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:813503d4-605c-45f9-b57e-7159aaf989ba phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0100866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:dc2dc262-05d2-4c26-ad90-5fc500ddf010 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:509db1f0-d93d-4f37-ace5-90b0ea81d836 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30681580 uuid:100e000e-a21a-41e0-96f0-78669d16c2ba phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0004060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30681580 uuid:69e312a2-38a3-4283-a261-3d89e8870e51 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30681580 uuid:d21f1971-8c2d-448b-b006-33a69a047094 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0004379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30681580 uuid:67cc7cdd-4805-4e50-bf74-0470c449bb28 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_phenotype HP:0031508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30681580 uuid:b976b4a8-8a90-4654-8548-44145c1c872c phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_disease OMIM:146000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30681580 uuid:7a8ae9b4-83cc-44f1-b4de-517aecbd7d13 phenopacket.store:FGFR3.PMID_30681580_proband biolink:has_gene HGNC:3690 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30681580 uuid:f510d1b7-bce0-4624-a28b-65448184d3f9 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:37e0f76b-ec2b-4ada-b6c0-79d93a60d7bb phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:2b9dfb57-161a-40da-8650-9a95b5394c74 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:41df7282-a41b-4335-8e7f-e29fd78ad982 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:ed2ea4fb-343a-4d18-b49b-fecd5e459a18 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:7062a264-49da-4fa8-9999-caa402e3ffb1 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0010557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:94e2a650-bafc-4f4d-a292-625cac144bc3 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:b23f07ba-9812-438e-9f35-53a878d18db7 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:fdb09f68-a58a-4fbe-8745-3a752428bf97 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:9b2c97fe-b055-4c7f-83d8-138ece587ad3 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:091f3948-9003-44f8-92c3-166293e3a66c phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:8938b1e8-9e06-4daa-9dcf-8194fef83bc4 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:1effb87b-2cf7-4292-9573-31e34ab02fa1 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:9f7d83e0-fce9-43c8-bb1a-d93817b4d24e phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:2f4903b4-0261-4dd5-bfbd-3f474cb7df18 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:eb2fd3f6-55fd-409e-844d-1db0ae55ce81 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:9ada4c62-06df-42c0-bd03-55da69e96328 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:db2162a8-16c9-4b19-b4f7-b57079edcfb5 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0034665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:6b3811a3-bdde-4fe7-8653-b7fb2f19a64b phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:c24b08ae-8fc5-4c08-a64b-1600b1721d9e phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:89f91833-8fc6-4c20-bc75-0a80e7934aa0 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:d353196a-2613-4251-a501-b9cf62fab4e6 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:3eb7d7c2-1294-4fc7-85b6-cec5651efb51 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:de285965-871d-4f31-b25b-14dc2a9cc688 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:dec1da80-e2be-4629-8ca7-bbc142ceb99d phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:33cbc433-2020-4a8d-8efe-c108951074ca phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:ed0617a7-c13d-4449-9b39-5589d6ac8121 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:1b8dc78c-c619-4085-b327-608d364302c6 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:4f999cd4-b94e-4d38-9f95-e3a09993fb3d phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:546c0984-c877-424e-8a70-cbb6d138f6ff phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:35e5d805-85da-449e-8fb0-fdcf2a31d0b2 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:16b88540-aeae-4391-a8d5-acbc797c2fc0 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:f9c46d6c-5414-42f5-a580-9c7e4565bed8 phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:91f2119e-73ce-416c-8ca2-764279b6c61f phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:f3e41373-d65a-4077-b44c-e2f4a0fe8e6a phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:cd5ad0fd-4498-44fb-8764-dedc7bd7794b phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:7d3e235e-f8ef-41a3-a5f1-32c980fbf2ff phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:d3f5c4a9-a579-4fcb-a90f-655825ce8f79 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:b2d35f8f-5859-43d1-8698-042b6624f7e3 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f8c91752-a48f-44dd-9742-e4d9656d4fbd phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:e0b7f131-9c6d-4217-a20a-4f305cf9f83b phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:37b32215-300d-4bb0-99f7-1d2d89a61254 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:12a5bc10-c7f4-49e1-b7b8-f911f384fa31 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:00dd3aec-6da8-431e-8c2f-732b708681b9 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:a939c036-79a7-4c40-8536-d28e44abf608 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:857c0629-7a22-4da2-8b4a-f15b6865b1ea phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:e73878d8-6361-4d83-8b84-fd181ed7d14e phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:c21109b3-edd5-4772-8d8e-d72bd924f202 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:23de0962-6bdb-4cbc-ae63-c8b8db5cfbe7 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:340e746e-eb7d-401a-8c8c-0bb50134a332 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f342ed8a-2a3b-4d5c-824c-599cc73664ce phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f9caa28c-b574-46b4-bec2-2fb9b19180e3 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:f3bcf4d6-738e-476b-af18-6131fc1cb60a phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:c1834db1-0104-4366-8ffb-d1824b73f77a phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:1041b7ce-7649-446a-936b-ea3a450dbf42 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:86636d0a-8749-4700-82a3-3fc14abd3137 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:aff883e5-0479-414a-84d5-e575cef7a1bc phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:2cf8f798-094d-4a42-b4f0-3eb72240396c phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:d5f51e1f-6736-4aaa-b790-02db624d32b8 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:c89ae101-6209-49fa-b255-fedfecc72e49 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:ec3afe07-2105-4d86-bc5d-12a5d6eec0b2 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:31c11e45-2cd8-44c9-85c5-ff0163ab121c phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:0b949134-f6c2-4c50-9e30-c6d223c0e750 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0011816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:6fa4b099-023f-43f4-bc2c-9c3e6d7357b9 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:3336dec7-83ad-4162-b2c9-3da662141614 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:a95f3443-fe06-4103-bad3-ea6ed585444c phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:bf0f0e68-0013-4ad9-bde7-d7d4aedf6dbd phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:5bb52f71-aa16-4aaf-8ed1-adb5f732b216 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:00f7fdf1-c126-4b8d-b540-20c047dda747 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:401b2fd5-b9e0-48c0-9261-e54ff9103c00 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:720b2644-4a02-44db-ac18-9fbd298fcaf0 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:8f7d4be5-4cc4-4303-ac48-f3fc37fb9679 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:46a591a0-8fff-4aa0-bd8d-0f6046d318ff phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:798bda3f-a590-4fe7-b657-6c67a5299cd0 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:9ae17fbb-85d9-46da-8240-df946c0a8640 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:dbbac070-6b22-4925-9fa0-9356669581aa phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:9e394033-1df0-4fbe-9a57-ad55305856f9 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:aea50dc7-43de-48ff-ba0e-c312b3e2e437 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0011816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:e96b835b-cf8d-46eb-ad7f-f741ab6a028c phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:9a8a2887-c62c-4c69-b65a-2f8122f54d40 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:49822da2-515a-4396-bf2b-6ce0a8749190 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:d068f99e-3ba7-4659-9c35-ec31b137401c phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:a3f738be-bc44-4cd8-a0e7-c5c308b13762 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:300d828e-10fd-403c-8f55-22093044cd8a phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:96c99b2c-e4a0-4925-b24c-1f0d762394d5 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:151348ea-a48b-4125-a8f8-46caa17190db phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:041c99f1-ad1e-4462-9634-5cdd9ee8de6c phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:cc93a11b-f438-479c-a58c-48682e7794bd phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:37e0e4ca-5007-41fe-b04f-396aadb32d61 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:3c62e189-33dc-41fd-8e78-781472200f5d phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:7ad28961-e40b-42d2-a2a5-cc6b1df5acc0 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:89f5d2bd-8440-47e3-be8c-b61655971ceb phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:9e302edd-7d17-4e88-8e97-e083c2f50a09 phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:c5ffe88a-ba1a-4c39-a019-bdc5b810b93d phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:5a6b4c19-6d17-4a38-b11a-8a206646357a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0034665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:2025e34e-ef1b-451c-abc7-ce0feae40e8a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:51a1e5ac-896f-4513-8b67-eb7168b49bb8 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:123b6785-3330-4f13-a6c3-c0a0db6bcdb2 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:482be988-1397-4bcc-8f6a-bded7fa0efe8 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:3a9a5e95-f67c-408b-9b57-a7bee7361198 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:53c20f3d-469a-459b-9ab2-708927a1017f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:f1de0aaa-9a04-4812-bb76-2777aaa2e894 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:3bc27d72-bf9b-4b3a-8089-fa6a55626fcc phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:4ed2a03e-17ab-41e9-aeeb-819d3bb4c611 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:29cfe2fc-69c7-4f14-ad38-46cd894f8589 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0008800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:c31746cc-2ae0-4d51-828c-8548ce438c4a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:afd3fea5-0637-4d7f-a630-759415d64130 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:0f4d1c48-d601-46c2-a2bc-14f46e72b546 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:f47d6a31-8f22-4018-aadf-7274edb04c8f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:1983d1aa-d73e-45a5-aa58-d1885e1014bd phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:0ab3abd7-c23c-4012-b9fc-f2b1ece8d472 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:54e3624d-0773-4ddc-8f7f-37594a31d713 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:a033e5c5-4cf1-4e66-ad64-4f6f5cc8381e phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:577fc4ec-ef6d-4f5c-9134-939b0c2ead43 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:e03f3994-f57d-4eb0-8dbf-9d0fa26440ed phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:f764b72b-f09e-4cda-947c-28a4bec39819 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:0965bd87-f800-4c6b-9475-4bef8fe26015 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0010557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:f8828b79-ef34-410e-8fe1-0fc5b09276e0 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:49b4ef50-a9c8-4269-98d9-74abd0b4cbad phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:a3b861d8-22d2-4c9f-8160-64279673a519 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:bae8082a-ce20-4f4f-b51d-eb66bb801ac6 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:8c182174-b568-4e2e-b12c-429298ad064a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:dd4caf2c-0f3f-4f17-b470-9fe132bb1607 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:e0f6709c-ffa9-4e46-ade8-b66ef121fca0 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:dc09a92a-1916-48e1-9f5b-25787b47a683 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:28a8f23d-1d75-46a6-9f8c-f700e32b79ed phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:dc2a50cc-5b13-48d8-b3cf-36367608ff23 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:cf283361-b020-4b48-8231-f84e3ce181ef phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:fc7ac005-27ad-4f17-9e86-2a53a020ee0c phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:a1376476-dd46-43dc-9ff9-56252d3f2409 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:b6e0d45c-94cb-4073-9b51-7ac08c3e9301 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:f0227df4-88f0-4c40-9b1f-45eb2c92ece2 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:b6ba209b-526f-46a7-a188-ef4fa52d2941 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:c0618a89-6f0b-4b34-bef7-dfaf380ff621 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:ebaf9123-2730-4514-ba42-8dd4e63f06f2 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:e20ddc96-0446-42c4-9534-798e79dd86cf phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:fbda7a05-016d-4289-9455-d997e00cd6fc phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:c7a71280-9b9a-441e-91ed-fe7276deaa85 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:e50e1d09-e51b-4d0a-ad35-71ef9e90ce53 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:22bb1a1b-0725-43eb-8039-b958ae5588f0 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:7271d94e-067c-4060-ab9d-a2ea0697fbd6 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:d395fca5-d857-49a1-ae75-e67b93efdff5 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f98296bc-5271-41da-b065-e52f46efb0fe phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:33b55063-afe7-41b4-a9f7-4c1102cfc163 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:9607a68c-a0c2-435a-b2aa-ed86ac19fd4f phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:caecc644-8705-48fc-bdaa-70f7219c1d4a phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:694c308e-aba2-4845-8a5c-113027fcc903 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:7a58fced-b160-4b7c-b1fd-c03f49294425 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f7882735-70f8-465c-88a7-ee3ea70178b3 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:db64bce7-cfbe-44e0-a81a-529a3d8da780 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:64877451-922e-4fc5-aeaa-68d1198169ae phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:093a055d-b3be-4e46-84c9-9d457664d101 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:c8a2daf1-aa7c-4dbf-b06f-95aff1a64380 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:4dbf1e71-aaaf-472c-9d83-69fc7e8c0845 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:0682bb1c-6b9f-4023-b56f-78438003cf92 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:0e65ea5a-c5be-42bb-bb74-1e45242ae621 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:c4b067de-fc22-4a58-828a-c5e09803e2ad phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:7a293d02-d333-483a-ac77-047036207548 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:6c65feea-55dd-4933-904b-89b5c43ef9c6 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:9791d7f3-4581-4878-8be6-966af8b794f7 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:ebeeb5ad-3938-4aec-a0c6-00a0d71ed121 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:990a19c4-c0be-4c64-a4ab-8ce8cc3abaf3 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:cc79787e-fd89-4c2d-857f-d4b45ef31f01 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_phenotype HP:0011816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:c17b0da7-eaed-45ac-8e7a-62ef71b9df72 phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:7d2095cf-031e-4f32-b1cc-52e83fb58cff phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:5144aacc-a6dd-45c6-9cb3-3d5be7bac81c phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:16c83c88-ac83-49b4-9327-2e252b168b2c phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:37163662 uuid:6e221e31-99e6-44db-9f24-2f54aa6569a2 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:4673b9e1-eed8-4fcc-a429-0384b67e2a04 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:4a91c207-94d5-42cf-8a36-bc22f7ab0311 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:0d0eb810-c0b9-42d4-a4fb-1c7dd526268a phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:28d8976c-6732-468d-8949-4ca06abab05e phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:3c09637c-aa8e-4473-9c91-f54d2b4d321d phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:133dcde3-62c3-4e2d-9c00-1f21cbb3b6fa phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:ae753e73-ff57-4926-950f-27b57351020f phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:1a87e641-067a-4494-88dc-0821bdef171c phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:1ce0df15-85de-4a63-a480-3d5edba06dea phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f2b90eb6-0219-4188-a1fd-ec2dc5605c15 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:8eaf0af7-e840-4973-9129-0f1f0a8af820 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:91962fe1-ea6c-4fe8-9ce5-3bd7d5c578a7 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:69c2b4fd-b81c-4be6-9b68-350710eb763b phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:54a46a2c-3d18-403e-9e75-345f5bea5d20 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:eb68fd2a-e279-4b7c-8e3f-51bc53c099c6 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:2b966462-1904-4d98-bb73-c3faf7145c0a phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:50b28703-d64b-43c5-94e3-1d1c8c54b316 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:2649aa4c-7c19-4ffb-a233-e5f04ae1a7d9 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:06481947-f4ba-4d7d-846c-88b5adacbb3b phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:4162a192-779d-4a04-8e24-28b1bb2fc692 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:f05a9f57-b737-46dc-8f80-79c7f12edf9c phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0011816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:6bebb69d-6a3f-4a19-a717-17b95b29a90c phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:234ea3a7-53c0-4a73-929c-5fa253f2ce5f phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:70327594-27c1-4dee-bc7e-450394f5ecdb phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:4272a604-d779-439e-9b60-3410e002b656 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:3ea0d9a1-014b-4bdf-b091-4c3708a54ad8 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:1ddbd717-c3f8-48a4-9974-0c5acfc441fa phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:5cc345bb-f896-4407-baca-c1fc370b2b8d phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:83524bb4-0b09-47c2-b8ef-25a457166ae8 phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:d57c7114-538d-4b79-aea7-c39d21ba943a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0034665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:ad6ff751-58fa-4a74-87a0-710b8d6e3779 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:add0b23b-d2b7-4b41-916f-092c39ad9a33 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:104b12a4-faea-480a-9764-4ff7baf38361 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:0cf00898-7e2a-4a94-9414-e0e7091a0d8c phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:34f8bff9-8616-426d-a068-4772db300985 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:6a2510df-109d-4d68-9d06-f60aaa4ae180 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:51c7a93d-1dd7-4ff1-aea8-ed974fa7f0e4 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:1f98edd7-0957-4a62-9b2b-d02efb5c56c6 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:20b98914-2573-4822-ba88-9fc47c00e797 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:5698de36-4f4e-4028-9596-2fdbe55dc0f7 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:1067b03a-2106-413b-a769-2b673122a5ef phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:91864364-2ccc-4f27-9877-700dbd11a277 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:e8f427db-e43a-4d93-81ba-c28ad7a21f0e phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:de2e2e7d-0d81-4810-a892-6652fdd7a44e phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:6461aa26-07ae-4167-a697-f864e5c823ef phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:abb459a3-3617-4a4b-8668-58ff06aa56ca phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:869878be-3980-49c7-be0b-9ffadb76cc2c phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:4fedd353-5157-44e3-a4b8-c57886e707f9 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0010557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:69e8e6ea-7c74-4c37-9088-44a859b4818c phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:cf4d8c93-6f3a-49fc-8861-07b16386adc0 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:3a12e577-ef62-48b9-9a9f-796c54292e6a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:46f932fe-82ef-4b23-89e4-98f6c8db17cf phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:3b1efafa-6c28-412e-81c4-5cac6758b8c6 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:b51fcd21-49ba-4a95-b920-5c87ce7c9ecf phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:cbcab1ce-1eea-45c7-b19f-515e69ef644a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:0d0f4b54-4c5e-4be0-820e-07049b0a9e35 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:e9856275-dea6-4bd3-83c3-92e3823a65f3 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:cb52107f-49fa-45be-9cee-dd9c419db74f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:92f9e1f3-5d1e-4a2c-88a1-ad3636912731 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:d76e7d80-95bd-4f83-a607-2b06360051ca phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:75605e01-b2fe-4b23-ae9e-73dd65370f5b phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:2defe393-3a9b-4b9f-9680-d053acb1ae0d phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:69f11b50-4266-463d-9a35-2d77993e5e3a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:1835e6ae-0f1b-47dc-8d7c-12a0e719f68a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:8dc06e6f-9e1d-4650-89dd-aaeba294932e phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:b421dd34-31f1-4304-97f5-8d424f95dc75 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:e10468dd-a232-4226-a1b9-a7280f0347ca phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:26bd8b96-1e8d-428e-aa58-40be26ce2584 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:af09534e-1b11-4a45-90d2-47c8a4adfb37 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:41a9198a-ce7c-4e90-96d5-f6d045b10555 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:b80c91b1-a54a-4652-8e72-bd91e9940c86 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:8f9977e7-900e-4259-8971-3d3e7113a63b phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:82c5425f-32ed-4ccf-8cfb-f46d0714e4d2 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:ee63b971-8252-4c50-83a8-86cbeb0bc81a phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:fcab15fa-ed5f-4a26-823d-3fd09b666ed2 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:5701025f-7751-4a9f-a6aa-5e20a08a04c9 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:ae92b547-d9a9-44a0-8944-3d14ebc6c08f phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:20beb233-2979-43b7-bea8-276b7e746fa4 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:f4d58acd-8717-46e4-83f0-576d6ffb19df phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:e328bff6-64d5-445e-b873-ed9bf0045386 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:1b7ffe3f-0293-4c69-99f0-cd841ec133ea phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:42101a25-e6e4-4171-9ea2-bf3a06fa0fbc phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:9a2eccad-29da-48ff-9d82-bd9636b36127 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37163662 uuid:e256c44f-d358-47fa-ba7a-8c0de363ab0f phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:1d2e8bfa-876c-454f-b2b3-a2d6bd98d0d9 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:f0df77e5-ecd3-4ae3-896d-e9436efc168f phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:4a1f42fe-e7fb-4361-a057-ba3d8a374be0 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:5474df75-d6cb-4a99-a871-0839fd80bbb4 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:3676c5ee-a435-4f6f-be04-38df6d84a466 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:25a623e2-18d7-4e61-9cb0-b8030a95e290 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:40913be1-0602-4b15-8e59-0631fd6ed252 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:d901a7b8-27d6-4fc1-887b-f93b99334c73 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:674a0f76-fb1e-4881-9d06-513a2e38c136 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:abc145f3-a55e-41a1-a2f0-ef273df5f00c phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:6405b6c6-7531-4b61-8af7-81ee60c04515 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0011816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:dc303fdc-cba6-4fb3-85a8-59eeb76fe11a phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:53089e14-d272-4643-a575-0068e66a73c4 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:ca3ac470-e3a8-4bb8-9368-63e951605399 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:9280ff17-e7d0-4a98-aa2b-23a805c09a4f phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37163662 uuid:9dcf207a-2135-419d-b2e0-befbcf5c13af phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:59f70b87-b344-4d58-8c35-62199a707228 phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37163662 uuid:dac067a1-12f1-4ce6-9aff-0e19463baa6b phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0034665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:fa1203d4-d7eb-49d4-9d67-3d5f29f9bb93 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:991e98cf-4929-47db-b786-10c6b35232f3 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:1986970b-9a90-473e-8e98-4ed5737440f0 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:49877b47-c68d-4d2a-9ba5-59a040c01642 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:ac724ba4-448d-46cd-a3c9-2dded3e501a1 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:327b8c6d-a041-4f9a-a73f-757c2c278695 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:e9a7287c-c60a-4c5c-96c9-9bff3ed2058a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:72b6609b-56ed-4cde-8a70-72c2b264a864 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:57395edb-fa54-454b-9fc0-d703f5eefe02 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:4facdb6d-2cd0-4e93-8476-4b5cca455038 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:7592e65a-9116-4bb0-a7dd-1a92fb7ae2bf phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:ed8b99b7-0cc5-408c-b57b-26a5a26d78b7 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:96e6b382-3766-41a8-9164-f4f9ef14e421 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0010501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:8176e62a-4567-46cc-b3b6-590e659539e4 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0008800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:2530e39e-bb31-45c7-897f-68b15553b872 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:5034c1bd-b362-4452-b1a1-623bd3d16293 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:83651f34-5b31-403e-a892-34b8e6a54d4f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:e382c633-c21c-49f6-852a-de630ea3044f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:481a6ecf-22a3-4301-aa9d-396c63cc0911 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:4dc4cb6d-218e-4816-85d7-6d801ed77f1b phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:2e411192-1b97-48e9-9a37-3f58ba46e201 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:60f2dd20-6adb-493c-8680-cd53507e052e phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:3f6eb51d-9cb8-4604-a860-17d1485fda44 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0010557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:98b31baa-c570-422a-b3ec-6d5f61cd0b0f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:78c3d644-5c59-4c92-a107-d804c16cf8dd phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:529dbfff-58b3-4884-946d-987d5f446efd phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:e85aca15-ee58-4b74-8047-bb7124dd2d90 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:23346458-41df-4c40-bf67-d4bd58d4293f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:1aa9088d-7cce-45fb-9ef0-bf341728d9d2 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:4a6d4dfc-dcc9-4d79-95ab-8c44f75ee4fe phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:91f693fd-526d-4f55-a33d-681a19e5069f phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:a124928e-a5ad-4ece-8127-680139ab837a phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:b8c4bf21-9ffc-4544-819d-0a86be456527 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:ccbe0cb8-3a5f-4224-8a6e-cec05544f148 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:ad1c31cc-ae20-407d-adc6-0b2c51114b3d phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:d8c45e97-8195-4fba-ad06-e5bd1a29d261 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:88b32767-220c-4896-8495-88acced774f4 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:948dd856-870b-4b3e-b791-de9f56815e0b phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:db8b7413-770c-4103-bd04-cbb78ea67f1b phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:8d6388fc-8fe0-4b78-bf6b-8bcd6ec45759 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:3018442c-784b-49de-9559-5ce0d214c0a5 phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:28d19c64-2137-4721-8feb-2fef38ace6d9 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:0b5539ed-fb8e-4023-8b9a-3345f4427faa phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:5234b4bc-cfd0-4569-a593-87f6d14c7c09 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0005656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:6422d2c2-d2a2-4a18-928d-7959cc721486 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:b0ae856c-3d66-4595-b4cd-bcdd4e87646e phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:37edb6ac-e268-4b7f-8fb1-062a5b01d608 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:e50744f3-79b3-47f6-a763-0019af3f3080 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:3eb29440-6148-4ce9-9d3e-6b7b70599d8a phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:ac7e96b4-03b8-4ed2-b4b8-4f5e5e17a422 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:db4e0104-251b-4ac7-bab3-c8acf9269c54 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:aace2e50-2764-4577-be6e-8955c81d77c5 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:9c99a1c4-afe4-4464-8583-20d3229e830d phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:3a387537-3c95-472b-9df5-3bb2786dc4ad phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:a2e4ec91-2e8c-47a1-803f-0e6bf090af83 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:6c21d228-b7d8-4691-ba65-5e53c4085512 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36943452 uuid:07f38161-4e32-4e7a-9067-7526728dd351 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0034665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:cc579989-ef6e-46d8-bc69-776ccb3cc6d1 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:be88a4f1-f581-474e-b607-b90b8b1355e1 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:64eeaa52-137d-4d08-8a3d-0900d104ef07 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:42776545-91cd-4a05-9d67-c05999e81d32 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:05e9ffae-05a1-4e22-8724-c03f8dac3549 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0010557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:0b81b1ff-183c-47ce-9c47-21c22a7ad05b phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:20ddb9f7-6701-4775-b5d8-c1cc1b405657 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:30e47297-6560-43cc-9f0e-7d3c14920b4b phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:77a8bb30-6b9b-4bd7-bcc6-166a796c01c2 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:948f6074-11fb-4cd0-87bd-80b273e6a110 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:3265eee3-ad83-4249-8294-254bbfd56442 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:1b74a617-0148-4292-9606-533e214e8c3d phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:b4a07142-8df3-493e-99e0-e388375a71fa phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:ec310d61-6569-4bf1-9413-8cfd2eb66ace phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:c3476534-0b2a-456d-85ae-06aafe43746c phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:c82ea902-e082-4cd5-895c-cbcda26d0ec3 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:be0eee49-1465-4835-9988-543268b5cc5e phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:4ac07885-13c1-48c9-8cdf-8a2182112c4e phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:823886f4-15d8-42c6-aaf9-1b2c2c533063 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:76a2d787-a567-4242-a55a-280f03fd25c1 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:fd50b52d-9052-4115-bfac-8677ef38508d phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:81e14031-c907-4e02-800a-fd981a2b9739 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36943452 uuid:06953248-f830-42fc-a4fc-041eb9b41440 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_disease OMIM:620775 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:fe81e908-7092-4d58-ae20-85012bc22ff5 phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:has_gene HGNC:21015 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36943452 uuid:03ab557f-772b-4c59-89d8-255f84a6c5c1 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29801479 uuid:13ae3b74-23fc-4dd1-86c6-5978fc1b5b1a phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0041219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29801479 uuid:5781ffef-a9b2-440f-a763-31f9348657ed phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29801479 uuid:23f4369e-d2bf-4d56-bd3b-de75bb17c502 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29801479 uuid:7a8f2f0f-8f80-4a20-8bce-23c98670d12e phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29801479 uuid:fbee63ac-730b-4e6a-b92d-7e530d925090 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29801479 uuid:2b35d3bf-cab3-445c-8507-3ba56f0d4206 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29801479 uuid:aebc632f-ed2c-4096-b5cb-91016b27a3e7 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29801479 uuid:fe8d6abd-f821-4058-b1fb-8248d79638c7 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29801479 uuid:ba740f1f-a1bb-4a8b-ae25-e875a2d833d7 phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29801479 uuid:7ef8a232-5bd7-4f3e-8eda-9a49d1abcdab phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_disease OMIM:610968 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29801479 uuid:14ead101-ccc1-49eb-bc53-e379ece51ded phenopacket.store:FKBP10.PMID_29801479_proband biolink:has_gene HGNC:18169 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29801479 uuid:1e08ebd7-f147-4aa8-90fa-455449f1deb6 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:20839288 uuid:8bf5a102-d72b-44e2-aa90-b35f143e1063 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:20839288 uuid:e423486b-d8cc-473a-90f6-424ded2ca6ef phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:20839288 uuid:0902fa0f-2a1d-4f90-9974-8d519650dd61 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:20839288 uuid:2b025557-4053-4c89-a2b9-5ea844f7f7e1 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:20839288 uuid:aac4b799-7cf7-4dbc-8f91-d12a9203fe73 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:20839288 uuid:c6c3b0f7-c376-4d4e-a8cf-1a5c0436fb18 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20839288 uuid:0dc5051f-b921-47cf-be99-969eada47646 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20839288 uuid:82b4d918-e1ba-4d4e-bb87-fe1ffa228626 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20839288 uuid:782cdf25-1f67-4533-87c4-df16033e034c phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20839288 uuid:73888145-d07a-40e2-ba54-cdac73bb0fb7 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_disease OMIM:610968 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:20839288 uuid:899a6ab8-5779-4002-88db-a1dea242d982 phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:has_gene HGNC:18169 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20839288 uuid:94b6e5a0-9657-4758-9865-785b584d490a phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:c0ad7ab0-8f15-407d-a9d0-d1017d17e800 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:a5412893-bf45-44dc-830e-c09d98138488 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:fa921a3c-5f35-4ce9-bdc1-f0ce47d9a927 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0010743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:4ef63566-2453-4aa1-851d-943131ac293c phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:810c9f45-eba0-4f31-84fe-eddaaa45a36d phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0004232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:a3010e4f-3798-45c1-9822-c758210ad6e1 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0008434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27977582 uuid:8bae7f68-e89a-439d-8c1f-2c33bfe34d17 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27977582 uuid:8ad318da-e265-4282-a534-01560dad0a5a phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0002947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27977582 uuid:754cc537-e44e-4fbb-b72e-f90b1b3b2752 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27977582 uuid:8e4bbc4b-3756-48bf-93f4-e141aa53ca06 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_disease OMIM:150250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27977582 uuid:9828e32e-45e7-49b3-96ec-89b842aba4a2 phenopacket.store:FLNB.PMID_27977582_male_child  biolink:has_gene HGNC:3755 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27977582 uuid:c81dac78-4b03-41b3-9158-5155f565c94d phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:e87e1ba9-3119-4317-83ea-ce505145f15e phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:7d73fe1e-80b1-4bf4-aae1-ad391601a647 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:d9fd2834-aed1-4c44-a83c-bc2158fdcc80 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:8e795595-f106-433f-9531-bf293764d7c8 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:c6c38c47-8d8b-4859-a45c-169d34f41f43 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:6292dad8-b369-4986-b092-60cacd41b197 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:116a44cf-a1ee-41da-aad0-3c9431914004 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:b206cbeb-532b-45f6-b458-3892d03d1709 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:062b872e-68dc-4931-9f6d-91b0ea3119c1 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36267862 uuid:b3b38ad3-9e77-4341-83d1-539d2641ba84 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36267862 uuid:9f013352-8bdb-4ed8-b596-7053e17290a5 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36267862 uuid:0f3d802c-fa6d-462c-aadf-9cfe2d4a9bff phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36267862 uuid:90a8cb54-0754-42d2-bc5f-108cffd3a172 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36267862 uuid:85ab1b64-3144-40d6-a36f-8dc60164d07c phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0002947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36267862 uuid:9ea7b010-54a2-4188-8005-971bc80a0981 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36267862 uuid:2a82984b-d306-4743-9e0a-206cc80f60ae phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_disease OMIM:150250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36267862 uuid:054da950-5a5c-4abf-a85e-c189c7ed96a0 phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:has_gene HGNC:3755 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36267862 uuid:2fab710f-6214-46a4-8987-c97c174cfe28 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:dc5a43d8-241c-4327-bb66-f7b90e480fa6 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:d4cdf366-27d2-4442-a020-4148f1d7afad phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:3721546e-fd37-4bed-aa78-b79162e96293 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:a7f5a4b9-b503-411b-9a37-afd21a7e011b phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:603873c7-3154-4799-982b-170127b0f663 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:934e6f4a-ba57-4b6e-ab81-602f8ebe22a0 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0002947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:ae379aa8-9b8d-44dd-be60-e2a0eb42eed9 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:c2562952-1de8-4e9f-96f9-39e3f8a7ec16 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:808cd7e6-f57e-4384-bb12-4f0ab256158e phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0002987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18322662 uuid:0411589f-b409-40cb-bb83-833f330f6b5c phenopacket.store:FLNB.PMID_18322662_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18322662 uuid:187b9fd2-1a53-4dc9-9256-653317d7d139 phenopacket.store:FLNB.PMID_18322662_patient biolink:has_disease OMIM:150250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18322662 uuid:2c434f7d-8083-425e-a840-f5ec538c352c phenopacket.store:FLNB.PMID_18322662_patient biolink:has_gene HGNC:3755 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18322662 uuid:666a184d-6bd5-48de-baf8-4e80f7ea0306 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36197437 uuid:95de3134-97ca-4939-b98b-13b3f5813af0 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:94259077-384d-42ea-88be-977035ac0982 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:0d6fe93b-11f9-4006-abe7-151ca2b88c16 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:535c870d-ebe0-45ed-b041-e9f348947832 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:c6ebc50e-1d56-4239-b27c-56bb65c9f2f5 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:5409ddb8-f49a-4ff0-bc8e-de93093a3047 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:535843df-7177-4138-8cd1-10682e16693b phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:ef9063f3-358c-46c9-90a3-f8c3a4489103 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:57554a0b-2800-4985-a224-4e371788e6b1 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:6e0ab127-a5ce-4701-a738-b27859134784 phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36197437 uuid:8f5ab375-348b-4767-baee-60355043ae4f phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:0483bf4a-c4d1-4be5-aa29-b4553056b965 phenopacket.store:FOSL2.PMID_36197437_case_10 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:b3d5dd1a-bb48-4047-b531-e7f6c86a289a phenopacket.store:FOSL2.PMID_36197437_case_10 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:5279ca94-d907-442e-af36-4ac63b459112 phenopacket.store:FOSL2.PMID_36197437_case_10 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:fdd332bb-20a8-46e3-af89-99814639dc53 phenopacket.store:FOSL2.PMID_36197437_case_10 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:46d74b59-85d1-4c8a-8c2b-876c36059fd1 phenopacket.store:FOSL2.PMID_36197437_case_10 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:63ddeabb-2b00-46ba-bffc-9d4e27f1237e phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:8fdd0854-0d5e-406d-9c4d-0e98fc9ca7c6 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:b93ee965-df1c-4f6d-86b0-c8b0c858af14 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:fc7b98b1-8d93-46dc-b201-3bfd615580d7 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:0733f185-2665-40df-a113-e30ef2759283 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:8ebac6b6-6d21-451a-8d77-a44cd741f273 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:8a15c491-483a-4a4c-96e5-2f4d3f6f7e8c phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:b1bcfb24-b040-4334-b47a-0261c4cdd4d1 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:ab64919e-c69f-4468-abc4-5913c11940dc phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:e4b6a81b-28cc-49b8-bfc0-bd2a7f475bad phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:46eb9e55-f4dc-4f8a-8285-0a7fad4d8301 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:f83cde5f-0e27-4b46-a789-912a357e75d8 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:56022896-fb99-4301-859c-80541dde20b5 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:bc0205df-90d0-44cf-bea8-275555cf9f72 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:509fda81-3f2f-473a-978f-bfba8f10fbf6 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:fcd871c7-ea49-4bfb-8dfd-81ef0210b7d6 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:ae85c83d-f161-4f6a-aad1-2ca4acb802ce phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:40d4eeb1-c792-49b0-93b8-00704615c98f phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:f3e24567-7db4-451a-9855-14e8c4a612a5 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:b51d9260-92f4-4361-8cfd-3feb02127d68 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:652dcaba-702b-4298-845a-afe774295c03 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:f40a5e80-b480-4c66-9f63-1da99dd88235 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:f73609d4-86e1-47c1-9eee-c508c4fb3bf4 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:42425df4-d93d-4859-9884-a901e52e0fd6 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:4ec63cb2-d3c7-4491-94b1-e58ce9f1f254 phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:eb981f51-663d-4dc2-8331-16511239c18b phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:55a2c1ce-e4d6-492a-b330-7196227c15e9 phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:dc1d26fe-e032-4dfc-90c5-8422a732a2cf phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:9e1d450f-98f4-4b1a-ba60-49233ff27b74 phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:8700a0f7-073a-4c4b-a5c3-729d445c3a0c phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:e65d0f26-4196-4b33-a3c2-e79c9604889e phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:8cc4a95e-71f0-42eb-882e-74b6b9e3bf95 phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:d3a6a361-ccf6-496d-8cb6-3c97be39fcdc phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:36992d66-8f87-47d3-86ff-4bd6c083437e phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:89085bda-48e3-4643-b3f0-3f962e209418 phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:e2a1b5bd-1486-4ab4-9f00-22b8a165c5bb phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:d0162442-c874-45aa-8020-9f7802e2404b phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:b361617e-a605-4a3f-aca0-feefaec56b03 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:51b83eec-21e9-44e5-92b6-cc2509457397 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:e98fe1a4-fd1f-4664-84e3-fde54c00dcc9 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:9c97b177-2ceb-4019-abd5-83ac5d01d7cf phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:a2917200-6a23-4fc3-af82-054462b3e514 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:e25c1509-b271-4cfc-acbe-bbeabf325352 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:62333323-8b65-4336-b309-c181fc49c4f4 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:e2ab28a0-2119-438a-8045-ccae71dc6415 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:f3f27895-deee-48b2-9abc-60f13af800d6 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:1e8620b6-88a6-4163-8427-19906b311150 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:d83f6958-8e2f-40fa-a6bf-13374332eccf phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:36197437 uuid:b8d76f25-33da-4444-9da9-c6a29f91398b phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:8d705261-2d46-418a-8088-2b2ecad6ab7d phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:43ca0175-e32c-459a-bad2-cdb1f7ecca9e phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:92ff2e7d-9557-4012-ba09-0056cca6f90e phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:f15e1af6-021d-4f53-9ac3-130642693b6e phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:36197437 uuid:1fb41d90-6040-48e9-b606-c222e8d184bd phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:fe70d2d2-1956-4091-9b6d-b866e6685dd6 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:4d4aba24-cc27-4c96-9d12-968a3cd01d38 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:741c2e67-41fb-49b4-9940-acacd39e5d04 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:7a3b237e-9d9e-41dc-8842-0edcde234d7c phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:76ffa119-5511-463a-ac15-00613af24110 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:7993b6d7-082e-4ffe-97ca-2e68ad493a7f phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:96382b80-056a-4df3-9fae-27f805d9ced5 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:9d90476d-63a8-4d29-b476-71689f4c4984 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:d992085e-ffdc-4795-8136-d983c85afd51 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:b82237f0-4afd-4555-a012-1862694f78c2 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:19893df2-345b-496b-a253-40b108506c1a phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:10abed1e-8be7-45d2-baa9-3926b5cb7aac phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:33e3e4c5-f333-4751-bcad-df3b08983614 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:012dee1e-89dd-4c88-b662-b9a1d39bc2fd phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:cd592f50-e9ee-49e6-a400-74912eedaf5b phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:a69986fe-a7de-4283-8e2b-7020562f01bb phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:ef9778c2-8ba8-4e3f-b6a4-267c05171a0f phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:d2ec2740-1c43-4604-8777-ad9c7b167198 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:2bcbcc5e-954d-4938-80a8-b287dff0be86 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:5f8e9b08-83de-4ae3-9b41-2b35f216d277 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:2c8414ee-b2cb-4e69-8788-de41fceb54ae phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:da8a6050-0c10-4697-ac68-630163632619 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:52600004-2fcc-4989-872f-e0533d3cf1ec phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:5abc41cd-1801-473d-bbf9-3e235b9ec7e9 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:03d3c17f-d30b-4841-9bd2-7ffd41c046e6 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:55b0c9b6-5326-474b-8744-4a81c500d24a phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:bb149c08-21fe-42d0-a51b-23ebf47076a5 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:e0fccc80-0e1d-4e4b-91cc-5ae13b6b2480 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:03a89b93-74ee-44be-983c-8f83759dfaa9 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:0252d399-fbc1-4356-b403-a555f5403929 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:b844c543-7dd3-45fc-84b1-000711c90e31 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:327dc428-a720-490f-b247-ca456c952a02 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:92f46441-9cd5-431d-9c1d-9ab75c1bfb20 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:ddcf0c15-382f-4946-a36f-5df0a32b9862 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:c3e0af1b-a921-4b63-87b6-5891ec9fbd71 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:082237d5-80b3-41b7-8f81-0d8bb9a9759b phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0007385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:f1bda2cb-e280-4631-b5e8-56772ba3e9a3 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:d9b4e59d-f88b-48f3-aa1d-7c600cf33125 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:6984f8ab-9869-4ffc-ba73-6607fe447681 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:e104df9a-3149-4100-925d-9b002b4a2936 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:a8d0a8df-0465-450b-ad5e-5f3ec3d7ba7f phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36197437 uuid:4fc7dbfe-f16a-4dd5-9e44-3b8fcdf63dc3 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:cbd7723a-2755-45a6-a70d-a793f97a0900 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:2a7ec8bf-6646-49a3-97b7-dc7841889875 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:1afb0819-e233-4396-8c8d-9212d792bbcb phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36197437 uuid:b0e8bf84-f0b1-444f-8f23-bac8ce121cfb phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_disease OMIM:620789 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:c27fa361-1735-4b6e-9370-d5195e23b654 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:has_gene HGNC:3798 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36197437 uuid:d4a5a341-1a12-4aa6-8a4c-52049b2a19b8 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:7db65c87-9d24-448a-9728-8e23c3d3846d phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:0b48c075-9bc8-4a8d-812c-3b72eb741613 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:c1ccbaa5-5341-4723-9a23-4b1a03b2dcee phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0031507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:80b029fe-b54e-487b-933d-579ebc883229 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:f3c024a0-f910-4d7b-96d7-c6a7b5f1bb15 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:1271aaf7-b8fa-4d44-81ba-86ed85197f73 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:d81ccaf6-1c78-4d02-8c4d-4aa6141b0752 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:53f2de87-7b08-4260-b291-40fbface03a3 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:86742e76-6738-496f-8886-3bebd40b9963 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:c375e575-b087-43e1-bdd4-dffb0378eca4 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:6c8b4186-ecf7-4c54-b057-e0ea7217e01f phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_phenotype HP:0430050 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:26ef1af9-e393-4c69-b2f6-0de6377d9e8f phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12165566 uuid:a84d1180-2564-45a0-a169-dd1b2f404698 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12165566 uuid:a7d00bfa-d883-4f92-83b3-18d7724a8a51 phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35963604 uuid:e1e23c53-ed07-4f65-a893-6c8da85837c4 phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35963604 uuid:269e764a-c739-4229-8a19-e1d3353c0759 phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35963604 uuid:93f6e548-55f5-47b9-a87c-a11999d204bf phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35963604 uuid:83b71040-53fb-4db9-89fc-ff4f6157ad17 phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35963604 uuid:ea492129-cad4-4f22-a7ef-488161f561b4 phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35963604 uuid:469be7fa-753f-4e6a-b361-42e9738916bb phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35963604 uuid:d7acef26-ba1f-465e-a399-32fca8ab07f2 phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0430050 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35963604 uuid:f1d1507b-a080-4c0b-ae29-b120e06c4a6a phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35963604 uuid:45786c7b-1102-40ea-a05e-8d16e98f536d phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35963604 uuid:015e1d34-68be-4250-9fe9-08df1f6d21cc phenopacket.store:FOXE1.PMID_35963604_proband biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35963604 uuid:444cd2c0-0459-4ee0-a761-8bddba597e11 phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16882747 uuid:d0019c52-c51a-4e1f-b8c1-c8f90e92b3ea phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16882747 uuid:bd4b58bd-8582-463c-ab07-963f2dcf3e22 phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0031507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16882747 uuid:1777b3c1-50c7-40ae-b79a-a348d8f6c187 phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16882747 uuid:5f80c565-a628-4f2d-91a3-d51246ecb13a phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16882747 uuid:baa8828e-a651-4263-a20e-53cc4256a0ac phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:6000244 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16882747 uuid:d7e76e47-6a9c-406f-996b-54fa66bf0d1e phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16882747 uuid:ff82b6f9-9d90-4ac9-afa3-0914ff762b69 phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16882747 uuid:0509b32b-4743-42ef-bec0-b60e8a66d23c phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16882747 uuid:ce2c433d-9e3e-48de-9705-e4354333f76a phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16882747 uuid:88521e77-cbf1-4124-a5af-4f24bb479b5e phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16882747 uuid:f7701211-fe59-43e1-b8b7-394a866b65df phenopacket.store:FOXE1.PMID_16882747_proband biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16882747 uuid:b78d77d8-0931-4459-82e3-ed3e6d6ec246 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24219130 uuid:17c5930a-5cfa-43c8-bba6-2bc1d101a596 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24219130 uuid:021c7279-5beb-4379-968d-39303487df4d phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:24219130 uuid:917e9aea-00da-40fd-9120-c54eaa5e1b37 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:24219130 uuid:d61b4ba2-b6f6-49b3-ad39-7cdbd74c9804 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24219130 uuid:5cf8f4e5-24c9-4a49-8ad2-fb6219d32f10 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24219130 uuid:7644ee77-e7e6-4b7e-8a72-e8424275f78a phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24219130 uuid:dd162ced-ed84-4fdb-8e75-1e288f4eb861 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24219130 uuid:5da96ca1-7862-4299-8c94-1400248a21a0 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24219130 uuid:e30c3c33-067a-4c08-8804-9c147108d5ea phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24219130 uuid:d59eebd2-1226-4ba3-9515-40fbac661324 phenopacket.store:FOXE1.PMID_24219130_boy biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24219130 uuid:69eae1ef-4da5-4a86-8359-2482f07e4709 phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:574f4685-f8c6-41a9-8608-460ef4adb94b phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:7ac25883-0fb2-4f84-9f7d-86a7e9c2780f phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:505d56ec-83cb-447e-982e-dfbe99c7f48f phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:da060949-b19a-43a7-961b-ddcf4a45dfd0 phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:6bc0865c-e3e7-45fd-bbd8-abe1d93dd525 phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0031507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:2dad1ae9-b90e-4760-a067-5942f0cc075b phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9697705 uuid:48852074-0423-4bfa-b034-2f94f248e4e9 phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9697705 uuid:7ed0afba-8103-4bd6-8379-6779a564efbb phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9697705 uuid:d087c423-936d-4d21-ac1a-c8cfcd8bc50d phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9697705 uuid:5a5b2060-7e5b-4ec3-8d65-33447228f715 phenopacket.store:FOXE1.PMID_9697705_proband biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9697705 uuid:09c94f21-02f0-4602-9ebc-2929b74385f2 phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:9e784f68-6ed9-47c2-ba6c-a17ebf237ab1 phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:3f045453-c2d0-469e-88a8-ed2428eac87d phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:779f4233-9d0f-4459-bbac-7c8f45103854 phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0031507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:68bde269-cbda-4960-9855-2ad476dac9da phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0002925 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12165566 uuid:21ce3359-a057-4e87-ad96-626781c7645d phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:a34d39d7-cd0b-43ad-97a2-3c47078b633f phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:dac1f6fe-4f98-4000-a48d-f3b53fe6eba1 phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:1ea92b9f-06cc-46a1-9727-b3a53ca78250 phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12165566 uuid:e039d2e7-e2a7-473c-a809-565334896f3b phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12165566 uuid:71e22cbd-4996-4c7b-95fc-496e8fb537ac phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12165566 uuid:91c23019-8ff0-4228-91f6-d3f1f2b98440 phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:953bc615-ddc6-41ea-8ec4-8a9cdba6bbbe phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:a28065b4-c70d-4ea4-aed3-2b9fd3464a77 phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:c9d72ef4-ac6d-4782-aba4-40a4329195f3 phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:29755aa5-4e7d-4345-8706-c4f67b4ae21f phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0008191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:8328ebbc-1e7d-46fb-aa74-c2e6bc1fe24c phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0031507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9697705 uuid:07b2dcea-6654-442d-a52c-4b893219c74b phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9697705 uuid:df395b9b-d14e-470d-97af-5f103cea2c99 phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9697705 uuid:5f23d5b1-5196-4340-b355-c654c8804de6 phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9697705 uuid:29a4e03c-27da-41af-a83a-a9336b12fb9b phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_disease OMIM:241850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9697705 uuid:d7995ebd-4e73-47d5-b74e-37c7111620bb phenopacket.store:FOXE1.PMID_9697705_brother biolink:has_gene HGNC:3806 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9697705 uuid:bfbdbf19-ee64-47c1-a555-278bc5d7048b phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M14D infores:phenopacket-store PMID:28851325 uuid:359212b5-dbf5-4323-8104-31430fb38908 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:0c196879-8da4-4004-838d-353627826010 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:9cc6a557-4572-4369-bf40-6291d13c1b79 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:90f80935-8547-4e0e-abd8-3470b5e935ef phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0007333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:f890c476-3d20-4ba9-a517-85ef23fe4fa4 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:3ca0a092-fc42-456f-a283-6f22a80fe776 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:ee61c1b9-aab9-463f-a8ba-7c13919d4908 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:2c2986b6-b5f2-4000-89b0-7cb47d12b4d9 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:231247c3-a6f0-4ae6-971e-3afdb399d3ae phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:e3c78dea-bbf9-4090-8768-f0b872ac04ce phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:55678592-d356-4f23-8e44-65d1ee84c9bf phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:8ddcd0e3-4209-4c96-b8f6-51e98faa3f5d phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:5c335df7-89f1-43b0-b554-6d01d8dacba8 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:f01e4717-25cd-4c0a-9ad5-fdc3c1885f8d phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_disease OMIM:613454 biolink:CaseToDiseaseAssociation manual_agent observation P10M14D infores:phenopacket-store PMID:28851325 uuid:c6ccac0a-f54a-4b2d-ab16-ddcce0417641 phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:has_gene HGNC:3811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28851325 uuid:0e245e00-d59c-4f20-84c9-aacc337fc14d phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:28851325 uuid:dee39a82-fcc2-4a19-84a3-198a93a62681 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:c179023f-49fc-4e10-96dd-1731e3a2ff3d phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:5fe98762-71a0-4b46-a98c-221e3ad9f89e phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:06174024-032e-47ca-9bbc-64f46bcac648 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0007333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:4db18491-84a7-4fc1-8672-23863b451e4f phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:b8248f2e-0b74-481f-a81f-0f6f3b9d5d81 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:c73f3301-51ea-4965-b3cc-7fde621ae082 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:c23f062d-674f-4a21-a414-d0dfc8defe18 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:0dfa789d-eefd-485c-9086-228d02d00c04 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:e4125d44-ad10-4394-8bba-8e7412320136 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:e2f689f9-4e72-40a9-860e-259145a6c287 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:d2f18f6e-8a01-480e-a454-a4d71b5555c4 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:d1fa8322-2a5c-4508-b56b-d56663559163 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_disease OMIM:613454 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28851325 uuid:0d52490e-b986-4417-b5f0-c3b405c13d17 phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:has_gene HGNC:3811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28851325 uuid:aca8d710-9267-4a17-a29e-0df49ada927e phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28851325 uuid:b0c486df-330c-455e-a904-0ea23e08cb70 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:28851325 uuid:1a5859bc-7e4e-4065-b3b4-09734484047a phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:f5d470ea-5588-43c6-9e71-cae4bc20faf5 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:ecdb9d74-3e15-497a-b1c7-684db359cae8 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0007333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:3561cbef-5a28-4bab-8718-a885dcc66b5b phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:9dc1a2ac-722d-44d1-adf2-d298cd0eeb86 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:7ad355e1-4eed-4de3-b52b-b3931f59a575 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:9587096a-3c85-4e98-91bd-f2b9eca90cc2 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:5fa003e5-e7f4-4164-a1c9-f15297e0b6a8 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:268b9aa1-0be3-40a6-8900-1e447e211a82 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:03e611ff-b284-4846-948b-70a4a75bdc2d phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:e6ec4ce5-0391-405d-b0cb-eb0dd4a6ae03 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:ca15ded1-11d4-4fbc-96d9-55a4f08ca0e1 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:792de940-a392-455c-9afa-927197ede6d9 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_disease OMIM:613454 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:28851325 uuid:b7bd4cf2-281e-4158-89c8-46b60c8f2ae8 phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:has_gene HGNC:3811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28851325 uuid:ee5c3f78-c30d-4a3b-8810-c6d6309c7aad phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M14D infores:phenopacket-store PMID:28851325 uuid:6fa7b626-0c74-4740-8caa-32589538bdad phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:d55fedcf-4e06-46f9-9726-3f9d81d7054f phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:f41453ee-324a-465d-b64a-9797adad1699 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:64e6732f-ea5d-4e3c-8d35-97ebe46d8daf phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0007333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:2b8d565a-0d1e-4ecc-aa97-ba0d6a833ec1 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:3645d161-8836-46b7-a086-1b6430483d13 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:bc86e5c3-dca2-4928-a28a-332a41dec6a8 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:57ac2632-3982-4a7a-af05-44eda61b423c phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:f73122d1-f542-4143-b032-396492a9d924 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:904106ac-383f-4ec9-8949-aa8dbc46bac7 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:1bdc6b6a-3a94-4ae2-87ef-001f376820ea phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28851325 uuid:e50645c1-1fed-4b7c-94c8-515b23bf9797 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:49ddcc4d-8761-41c0-8036-ae633129aab2 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:8cf53ed2-0493-4342-a96e-548ccda0e7ab phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28851325 uuid:e205ca3a-13e6-4514-b683-9b0012b9b0fc phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_disease OMIM:613454 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28851325 uuid:78f76903-7ca4-4c26-9685-ad3910d22195 phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:has_gene HGNC:3811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28851325 uuid:016c42bd-08e8-46e8-840e-9c3053e0f8af phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37660254 uuid:c835146c-574a-4113-95ca-f7f8b60d6d08 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:37660254 uuid:ed95588d-06b4-4bbc-aa39-e117f800ac73 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:37660254 uuid:894f9a9a-ca77-4fc1-a97e-420524d45857 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37660254 uuid:a1a70cfe-191e-4e91-ab90-f35c8c41fce6 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37660254 uuid:8aa0b857-1538-4288-a8c8-df4adc73f432 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37660254 uuid:105acc39-8fb2-4fa5-84d3-4edabfc6dcb7 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:c733ddcc-731a-492a-aedc-df968614275a phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:043d783d-e0ea-41a6-9d3b-db32125ca4ff phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:5ae691e6-740d-4a0b-98fe-32eac202aaba phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:ea43037e-acf0-40e8-8eaf-c58914b1bff9 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:7dac07a5-ebe4-4ea5-889b-7e8fd2a21953 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:0aa227b5-9039-4ca2-bfc8-eb32bcf6a66d phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:87c60206-89ed-4692-8d60-6e81028b6ab1 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:93def8c4-1c29-40a8-8f62-b4af0d8893bf phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0012675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:aad72923-ff56-458d-86b6-4ce69c4e9b6b phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:203a3ec4-c459-4205-8d6f-07e3837343cb phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:14a3cf47-0fba-4f11-92f2-9552a109261d phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:08237330-7871-41de-92ec-0474e6a067b1 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0012343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:5844d36b-4b76-4dcc-96e3-65582c1bfb8f phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0012464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:514628fa-63db-4b5a-b894-81ce6f51d7c6 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:eb741e87-7760-4985-9eca-bf2f42303813 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:0520ad2c-661e-4670-a937-b27401a83690 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:858ec017-64f2-4630-827f-2fd340aa80a8 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:2196b31c-9ada-46a3-a059-abfcf54dc258 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:68f18f40-2268-40ba-94b4-afb99b08bb87 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:02db4ffc-2441-462f-b1e1-b1c5b454df2b phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0041056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:4158fc47-443b-4a65-b5df-95a3a8627912 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:e3df15be-ff6f-48e6-b49a-2b8358942e2a phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:439f7802-2af8-4bb7-9361-83d05a9c55dd phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:987cf69e-915a-429c-bcb3-c5b99635e0a7 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:e5ae255a-b4b5-45d4-a066-454c1ce5d548 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_phenotype HP:0040130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:f2d4f15c-4c4a-4130-b803-989f0fe4574c phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_disease OMIM:620669 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:37660254 uuid:ff83e6c7-4060-4f8c-b6f4-142ddeb5e4e6 phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:has_gene HGNC:3976 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:53e0a411-63b4-4b32-8006-88a265de1c6a phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:37660254 uuid:2f525a2f-b463-4c09-9013-a5cb8dc566c3 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:37660254 uuid:98d55940-d921-4ce5-a7bf-8af065463b43 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:37660254 uuid:7a322a7f-443f-4c23-827a-9ef1c8797c33 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:37660254 uuid:562df1aa-504f-4f76-a534-d4c539498845 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:54c75a96-0635-4daa-bd33-f07538f965a7 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:bb25e0f9-ef5d-462d-8eb6-24ac717d49dc phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:9a8580c1-b8c5-4000-888e-6ac000888fd0 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:faa50c86-611d-4a87-9f1f-c363ceba77ad phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:55c7ae4c-925a-4894-a4d0-89204fba130c phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:fdabeaad-9493-4ceb-b02a-e333dc4314ea phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:1ab7ee37-a3e3-4673-a618-8a40046845df phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:a8745b76-f9d9-404e-a46a-e95abdf43e79 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:190e522a-9cbc-45ae-a968-e09fc2425bf5 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0012675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:d47886d3-10da-4b2b-8210-7c493aadec47 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:2a862a3c-4063-4e9f-b806-8ad58a3656e6 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:ed5ba0c3-f788-4903-82d4-bf0962a2dd2d phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:4f41cfe4-e849-441b-b765-64801b6a705b phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:be36dc49-a126-42eb-aae1-b985affab49a phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:8374dafb-217b-4b1d-9f96-6322af8819f7 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:61b3b08f-8501-47ba-bd2a-cda723ee9863 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:12d38a69-db29-4afd-acc1-7c4e5ba5310f phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:26518c10-2cb8-4493-a69b-e9640919fb62 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:5ec5cf95-89bf-4b41-ad1e-0d3983fad8b8 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0041056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:7c8e95cd-1a02-469b-8d10-b234e67e0e61 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:9e2efce4-dd81-46c4-811e-7c960a3526ab phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:e2586db3-b090-4f58-ade1-5cb59d0a2a00 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:170253e5-5c93-4918-a634-9fdbfac2ea95 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:124f161e-a223-4a12-b73f-70a9d0fb5340 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0012343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:d5f0c793-4663-4fcc-9c84-5735fd3135a2 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0012464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:6fafecae-ac3a-4228-85fa-fa430b1ee715 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_phenotype HP:0040130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:ce546061-0d5f-410b-bda8-30d8a6ae4007 phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_disease OMIM:620669 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:f789ea04-3f3d-41a2-9831-7f0b4767010c phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:has_gene HGNC:3976 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:56409069-32c1-4ec1-9745-6b7de576a852 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37660254 uuid:10487334-dc4b-44b0-a854-9b21a6a85bc0 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37660254 uuid:49dbefcb-9d48-48e8-8b71-f4bd5abe82e4 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37660254 uuid:9ee015a7-ac3e-4592-b732-2d123e09e23d phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37660254 uuid:842b40c7-d30b-46d8-9d58-d700c177b7e9 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:37660254 uuid:275613ed-154b-4824-8af2-a3f08cac42a7 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37660254 uuid:3588e79d-4e8e-4176-8b31-6508664cf378 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:ea249e55-283d-4806-adfc-ea16d8753c1b phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:70eb2535-b6af-4409-b42d-266f601f53be phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:f00a0a5c-c9d5-4b76-b657-06bfa5d51090 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:55080e52-4bdd-48ca-b189-37886b6ab846 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:b62ad21c-2c70-498d-b53d-02c052741db0 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:385037be-e6eb-4038-9611-37512a0912fb phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:6b51ada7-4387-41dd-95f2-462f2482cbce phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:83f67002-bcb2-4ab0-9598-856c521ce941 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:fb44366d-17c5-43c1-9b20-9dcd77f2da8f phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0012675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:330cd538-6e1c-4ab6-b4b2-e1a1cab1c2c1 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:720030d7-63b5-4aa8-88da-3c7e7d76c09c phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:18a317df-4131-4084-bb33-d3ff1ff334a7 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:35c560f6-ae4e-4430-822c-2fab5d7b404e phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:8b3b78f3-122a-4de6-baea-631d6aff6826 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:bc0f9061-0f67-4ec5-84f1-1b5f726ea5b9 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:a5bda1a2-2e21-42c6-bf32-5106b9dd736f phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:201a70f1-8c6e-4c9d-a202-713eec23627a phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:8d4cbf31-b4a5-45c8-943c-88e11ab4d2cd phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:f1f9171f-0a00-4202-9671-fc67bbc4ecd2 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:db8e1e0c-6263-4fb4-a963-0336274f17da phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0041056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:f6853a73-e531-4c01-bed6-57f6f5db16cf phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:eb950449-06ed-4dfb-aefb-393145f809ea phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:981d3277-81d2-4d29-b617-b0ebba51acc9 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0012343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:f68f109d-8c64-4949-a9a1-8a4d759af852 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0012464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:e7fac1d7-3f52-4a68-a90f-9c30e024cb0c phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_phenotype HP:0040130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:ce9bd35c-532b-4b1b-a784-fdc02fd5be90 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_disease OMIM:620669 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:b9c7e035-4579-4247-a6bf-bab3bff4d9e7 phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:has_gene HGNC:3976 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:45ac2096-ac9e-4abd-ad7b-714bd5bed51b phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0041056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37660254 uuid:4713fa53-8058-4464-9921-2da5921b3ae1 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:37660254 uuid:b3a9fe44-4b59-4359-87df-f729b303cdce phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37660254 uuid:c9bf03dc-3140-4d94-8712-689ffea58194 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37660254 uuid:3626a8be-9a5f-4dea-8864-991a0cafc7a3 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37660254 uuid:a7d7f464-a77d-400c-9d87-e820b54a3781 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:51af3d82-c92f-451b-92cd-cd1d485f474f phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:03cc1f09-6d7a-4bd3-93f6-70f2911c4437 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:d848f81f-b150-4118-8789-a1b6939b07b0 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:ada9cf0f-7af7-447c-9028-61827be62ce0 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:6edcb5f9-dbcb-4d52-856b-a161ae0c28cd phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:4750ceca-ac70-4e89-9496-a7baa707c6f6 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:f8e76dca-521a-43af-ae03-fa75c3b4d621 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0012675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:46779613-086a-4366-8147-b2112c9374cf phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:dd217e95-5de1-416e-91da-6a07b03dcc5c phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:301a1b90-60bd-44dc-aebd-abc5d4b1cce7 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0012343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:4c2955f9-0541-4fb8-abab-61ef24a70cc8 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0012464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:603f72c5-41e5-4588-8e57-e95575ca0e89 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:c114b472-29ab-4960-8e67-1827f1b452d7 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:35246070-0d1e-46bb-90da-e25e5ad119c1 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:52196780-7742-407c-924b-50bba4854d62 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:57c9c266-090c-40ea-9d15-9856282a0f88 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:82f4626e-98d5-42ab-8223-e1ea59fab35d phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:c92c837a-be9e-40d1-a0b8-cb16acd057ad phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:a4b89e9c-ce38-4181-a49a-43224ec2ae9a phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:f4caf8a2-aac1-42ba-839a-18508c2a0d3a phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:3ead4f5d-271c-49dd-8489-2bcf2812e572 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:cba67a73-c674-4e47-8f04-6076884c9cbf phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:29249a57-0af7-4037-a15f-1309b0051d53 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:b60fa712-6370-44d4-9b03-dc1154459a79 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_phenotype HP:0040130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:7aa48e36-bea5-4896-ab64-d25059a46f43 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_disease OMIM:620669 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:37660254 uuid:f2cb7c40-2a63-4018-bc76-e32fde2ef9d0 phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:has_gene HGNC:3976 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:bc8207bc-5e90-4efb-919d-a34e2b55ba3a phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:37660254 uuid:dc5c5b8f-ba5a-4690-b74e-6b2249f88557 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:37660254 uuid:8ef11908-eae9-4678-9c0d-e05fa3eb0e93 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37660254 uuid:5f02f519-5d12-4a94-bc24-a4d46ac7b755 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37660254 uuid:12fbfb6b-a85e-42ca-b091-9f6b01af9e37 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37660254 uuid:20bf0a3f-9913-42e2-81d4-861b6d463e56 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37660254 uuid:d848d8ae-7b6f-4e86-b3bc-012e2d28a89b phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37660254 uuid:f9572fcf-e324-49e9-9503-c810e028231f phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37660254 uuid:b6cf1c81-9576-46eb-a9e0-c491fc829499 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:e57d80cf-4613-4e9c-b3dc-4c9d36c3e09d phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:c2dfcd48-7948-430b-a024-14ac48ddae7a phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:30c07fea-74e8-4554-96c0-a62d8cc81f66 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:9629e2de-55a3-4246-bf99-f23e9d2d6696 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0002180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:3024f354-2490-4f8c-a6ff-ed01ccbab2df phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:e67c66b4-e9ac-4506-8949-20718ba5b8cb phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:8cff6920-d146-4363-ad44-3b404f9c2e03 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:188e566c-d8b1-4ef7-8067-66ddde549c60 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0012343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:2c3ce74e-0440-4f7d-b26d-4c1eacff8025 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0012464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37660254 uuid:7ea76199-de81-4284-bd1a-0c9bcae7595f phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:58090385-c3ab-491b-9d24-629234e7542c phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:2051b880-7cae-432a-9ede-3e452a8208b6 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:e0ea4a84-a5a7-4277-a8a2-1cd1a3933a0e phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:14845dff-5ebf-4ccf-9933-5028dfaa5896 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0041056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:a85b891a-b0bf-4826-afef-9cca8b374890 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:fbe692ea-93e4-466d-9aaf-78cb7db97260 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:05ef32db-0c4b-4004-b121-466293bd5d3f phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:accaa332-c0c8-4a1f-b000-ffbb7b03744e phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:38895a04-c852-466a-9551-256bc5f7850b phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:5359649f-9578-44c8-ab0f-28dcea5e1851 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:f1eefe88-53b8-4086-a359-3d6827e44f0e phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_phenotype HP:0040130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37660254 uuid:fb29b912-94cb-41c1-8f7e-bc1b11283df2 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_disease OMIM:620669 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:37660254 uuid:e39ad281-2238-4b52-9b54-d708f69fb821 phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:has_gene HGNC:3976 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37660254 uuid:f1394da4-c8ac-49f8-a252-878c04bcf122 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0001892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:053c4977-6a81-40c7-a544-e9ecbf3d463b phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:c8b5b5d7-b34d-4587-87c5-3b811dab0d31 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:88afc3fe-9403-4fea-aaee-3ab94bac3ba0 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:01718cb3-880d-466b-a4ac-2cfc35491ed9 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:9c81dd66-e656-42e3-a47f-cd93fadf4b7d phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0003010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:376f8c49-5138-4ded-a5c8-c5da979ba7d7 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0000225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:a2f439c1-ad63-44e4-b87b-8ab00a3808a3 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:e846ba9e-7623-4c12-a2db-e284c360bf2a phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:f5707678-b481-4092-9c4b-1dbff2610635 phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:25876182 uuid:8c9d15e5-aa9b-4a51-81a6-0ab02437cb5b phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25876182 uuid:0809dc2e-5e03-44d6-90d8-ac2a1f8d1d76 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:25876182 uuid:7dc02803-71e6-4db7-8ec8-9f46ff83ddbc phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:25876182 uuid:dc3280c1-aefa-4b5c-b0a8-bbddfad25db6 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0000225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:25876182 uuid:666ed723-7988-4e23-b914-81051ff16614 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:bd4bb2ff-378f-4654-953e-06227ddb64a9 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:c079b96a-3fee-490d-8e65-c633a0587d13 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0003010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:983efeec-74c7-490e-abac-d24a16c797d4 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:6be870d7-14ae-450a-bb93-a94afee51ede phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:f522cbe4-bee4-4a1e-96b3-9e0e669b4092 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:d5d705a7-0fb4-4fb6-b90e-7ec379d05381 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:25876182 uuid:f280dedd-0116-4451-a127-33325934c265 phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25876182 uuid:ac93fc94-e7b7-42b1-9fc2-c867368d7619 phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25876182 uuid:237e42e6-c930-4741-bf36-6f9cb211004c phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25876182 uuid:6c4b0c25-c6a1-43b5-a75d-f6226ab6ea81 phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:7c31e099-0ebe-4c86-a558-26a05903be6f phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:530c8e98-1da9-4335-8d1d-b5c22f0f842b phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0000225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:89bbfa8a-4eca-4118-af3e-8c9324a55774 phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:38ca0831-2f14-4a76-8689-4cd22de5a22c phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:d9411c19-20af-4287-b093-803b6d9a2cae phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:25876182 uuid:228a34a0-85c4-4aca-8841-63c962eedca8 phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25876182 uuid:938a0653-86b3-4ae5-b5ca-505dc286a9c3 phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:25516138 uuid:c8e105f4-2c1a-4ad2-bbcd-e7a2b48fa1ed phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:25516138 uuid:a6f98263-e608-4252-aae6-0b29e6752d3c phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:25516138 uuid:d3a8c140-ba37-4fd5-b780-32919bfc397a phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25516138 uuid:527c0276-2285-4df6-a6fe-fe592d7b1dac phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_phenotype HP:0005548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25516138 uuid:70b12a75-df97-48f9-912a-561b91a43e79 phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:25516138 uuid:ff2255da-9377-4d9d-97b1-77c79a0f4d2f phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25516138 uuid:02a080e8-d5c4-41cc-90bd-cce3f09f4a7f phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25876182 uuid:472eef5b-5869-48f9-b91c-e1cea233a52d phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25876182 uuid:d08fa587-6ae8-4810-9101-f7b7a3050de6 phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0001892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:c11bc18e-74dd-46c0-9af0-9ce675488a68 phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:8bbd340e-155f-4902-ae49-a26e137690ba phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:a1c87c98-a887-40fd-9b72-3a643f805abc phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0005548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:1492bb91-a926-41ba-ade2-f69e43a1d73c phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0000225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:45da959a-f0b7-485b-9abd-4e19be00cc84 phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:78bf1644-f8ba-479d-bfa3-19b1bd3081d2 phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:8fa7d17d-6760-413f-b5a1-34f8ab902162 phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:25876182 uuid:6bacc21e-444b-4056-8017-57442cd309b7 phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25876182 uuid:520830ec-ada2-4236-a431-94753ea3d93d phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:25876182 uuid:f392e030-e50b-4fb4-9a7a-db7920efb82c phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:25876182 uuid:e62bfd41-511b-4ff7-90fa-d374ddcc26e2 phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0007420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:25876182 uuid:78fd783d-a73a-4bf1-a09c-605f64866f8a phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0000132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:e22aae9d-6881-4b49-a2d8-15212d8d6510 phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0003010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25876182 uuid:fd2a9f62-517a-4654-8310-b8c81d1375ab phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:32f85e55-fc86-4aaa-a51e-66af7a7d95ee phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:ba35fb9f-c15f-4f0b-9d84-9c52e83238c0 phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0000225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:d15b3643-5807-4398-bda1-24d2008aa0af phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25876182 uuid:9d871d38-2941-4121-b0bd-94817a3ef6fb phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:25876182 uuid:e3e39eca-85b1-4e16-be8b-6092ebe13e6d phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25876182 uuid:c9514c2f-7f58-421d-a401-04eb67d80adf phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:25516138 uuid:b8b896ab-1ed2-4025-874c-218bc2ea132a phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:25516138 uuid:e1240e0b-e308-47bb-9a1f-f722cc203bb8 phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:25516138 uuid:29e46744-3abe-4ae7-9597-478f17abbbe5 phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:25516138 uuid:dc8ed454-5e35-4037-a1a6-53f5f99f724e phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_phenotype HP:0005548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25516138 uuid:dbe04f86-60e1-4228-b542-a0f879c15ad0 phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:25516138 uuid:37be09b5-f2cb-4f8a-981e-eaf619e422df phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25516138 uuid:1a8162fc-bd4c-4d41-b53c-f2c060239f7b phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:25516138 uuid:748b5d7e-575f-4038-872e-22b35929d7c8 phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_phenotype HP:0005537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:25516138 uuid:10b3db6f-2868-4a50-99fc-5ccb38b874f6 phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:25516138 uuid:b6095b2d-1466-4657-9eba-f373ab8e21e6 phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25516138 uuid:3981021c-1e8c-4f03-bf61-6985f580b626 phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_phenotype HP:0005548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25516138 uuid:2686d03a-f75c-4da5-a159-cecca717084a phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_disease OMIM:273900 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:25516138 uuid:6e9fb64d-a88b-4e54-ab8c-a2f967d7a838 phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:has_gene HGNC:4036 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25516138 uuid:ec73f175-ef08-4e48-8617-7ff671c96cc0 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:b6e1804c-1603-41bb-88b4-c378a82d3cbe phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:61025a74-1e2c-4b51-9995-5aa9cdd3a964 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:fe7ef267-480f-4c01-b37f-35ccd03d0cc5 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:3237abf3-0997-4910-a94e-e5dc498d8bd4 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:0b89ba9e-dbdf-4126-bb2d-d34584b2c61b phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:d4146df0-9584-4338-8dc1-09b6ed571a0a phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:1180a8da-5004-4a4e-b523-1377a9b938da phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:70e4a973-fd39-4179-b210-c228b9a91bd1 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:b31b8d3e-03d5-4922-97aa-72c7b54cfc48 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:a2f40cb7-6be1-4d8d-b3f9-57c0750ff34b phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_phenotype HP:0010924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:96f914d8-abd3-469e-836f-cf8bb1898da3 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:fc5a59a4-0629-41a5-a7ee-2df236cf8af5 phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:9d20c1c8-1a6d-4ab5-91ce-a7ac94d40234 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:62bf03b3-3588-402f-b551-a0f9d76c3ba3 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:a837e525-da5b-4d39-8fe0-362ea684a9ac phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:ffe4d8fb-4961-4da1-a41d-08505309c7c1 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0100019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:89edf621-fdf6-434e-96ff-cb34a5c659f9 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:3d99b58e-75b7-41e0-b285-8d2a3ad90b5d phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:aad14a1b-1208-49fa-b807-96ccaeabe749 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:d219aacd-762d-4f29-94ab-b88d81cc64fd phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:e82f3180-3388-49b4-9b2f-f9d0bef672c7 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:f88f513a-3810-4dd7-aff6-27241c852897 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_phenotype HP:0010924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:e32990c7-83b9-44d7-b6f9-50f0b98a384d phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:a91b810d-5c60-417a-966f-e1138cf64ad1 phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:1c768efa-223d-40ef-8225-c7f67fd4d9b0 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:90233871-fb50-42a3-a4ce-3b1ae9787500 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:b343036e-d44b-46c3-bb67-32a940b9f436 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:b9814a84-70d3-4fbf-aea5-9b47432cb61c phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:76dea5dc-37a7-4495-b887-d8344afa571b phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:ee02ce2a-119c-4ac2-883d-bd198572947a phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:59f7cd20-8254-4897-b089-e6e09b2fc475 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:9af92b96-0aee-40f9-bd57-1ef7e840135b phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:498e5c61-a4aa-467a-a4b7-1e5e3fecfd7e phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:a85d5971-5c2c-4d96-ba24-6ab8dc3a45c9 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:1972de4c-8b3f-447f-bd07-5147dd4672c6 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:5916ef0d-1874-4416-bbdb-155dd66206d5 phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:c2b80427-c570-46d5-a35b-59399c8f45aa phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:387b3d90-4887-455a-bf8e-c0d5add5d722 phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:27d876fa-074e-495c-9408-f36c5ec0d20d phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:0ef0d803-2c98-46a9-8719-25e6e3a1b04c phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:885f59e3-5dec-471a-bed1-321566b34f0a phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:c1b8c2db-e1e8-4c5c-af0e-cc253b710cf8 phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:fd079a03-4efa-4645-bb9c-d4ef2365b203 phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d104a63c-4683-43cb-81f6-76576e3ba4c8 phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:af9b7af2-3d59-41df-997e-4566b13ac912 phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:23926e2e-8734-45fd-a4ef-25fafb2708f9 phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:35a87d04-ebb9-46f0-a54e-327ed1f409a3 phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:7247d44a-ea52-4057-87b5-547d7876e473 phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:d2e5df44-3b1b-4cbd-9d01-3989ae3d906f phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:64f2be98-689d-4b47-8ac1-1f6ce69e6c74 phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:269ed1eb-bc67-41cb-82b7-60a03179c0b4 phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:4d2addd2-60fb-4362-b092-1c100307fccf phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:6d9c97f0-d96c-47fa-9319-5704055e9292 phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:85f56bd0-b830-45d5-92de-cd7c30b1ebdb phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:02348261-a692-4fb8-a27c-f76bb3ecc48b phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:acf5b7b6-ada2-40c7-a7c4-3159c674d322 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:e44d875a-531a-49f8-89bb-11c669a38cc1 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:f0325faf-00a5-4738-89d5-43f790447306 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:a2dfe77c-d898-4a3b-85d4-183b2a79e87a phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:1e20c1da-e1a2-4e18-bfb2-d17d68146f3a phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:a8f826b8-d0e2-4ab7-a2fc-7bea7a631681 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:f7ca06fd-90b1-42ab-ae3e-2fa4b1130248 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:1e4b436b-b0be-49dc-8c66-616c26cfeac7 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:d61c1233-41ca-4cd9-aa69-899e466c97a1 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:571e221f-dea6-4f04-9578-fa84331cf78b phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:910981dd-6e20-44ca-ac23-76fa42b9b0e5 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:a8e2c995-23c2-4b46-ad59-0dcafe4cc384 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:341d9251-26ea-47df-ad06-6a658d4df630 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:86da1b62-3c69-43e8-a48b-cf926d94fad8 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:cc323917-8a93-40de-b74e-e9c0eb83f282 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d878a9ee-a5e8-4d7c-b2f4-ba5f17998cd7 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:bc4ec876-d803-45d8-b2ba-94463cf8c8e5 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:96f57f28-7a58-401e-a20d-b8749c9ae2e8 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:ae6eec1a-36d5-4ef8-a18a-1b8d7b308877 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:58a17824-bd78-4715-a8e2-157338f228c9 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:819034dd-9e49-4e7d-8a1a-fcf2c46e00af phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:6e517510-8d6f-461e-9865-7f3d82b3fce7 phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:f41fe63f-f33f-4f1d-b9be-237bc70e6751 phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:5a249ab1-3d31-40af-a5bd-53c9f2e00a92 phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:1e6782f5-112b-4947-bb77-d97cbf0842c3 phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:3ba04ebd-d097-4abe-a66b-9c20b04860e6 phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:d509e825-88e2-42da-af81-94a44f0d194e phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:1faa36d3-d302-4f54-879d-82d622e9e099 phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:acc099ed-652f-4138-be1b-caab0d05ff8c phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:bd10a7ee-c7d9-43a8-b7de-8972dd6922dd phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:692c0894-7174-47ed-8acc-3caaca62c609 phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:eda6d137-0e12-4ac1-919d-b0e0e00c1329 phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:b8a260dc-359b-4cb5-a92a-131c051a8a3e phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:629122d1-c3a6-4acb-894a-11e8f5190c5a phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:b1e54796-c202-46dc-bdd8-da5553015e6f phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:ca321122-0678-41b6-b3c8-2a4101a4ec9d phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:388603b6-669c-4558-82e3-950c76a5f766 phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:eccabcb4-aca6-4aaa-a9b7-631dde634b5b phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:313c6688-41a4-4943-97c7-abddcc112e3a phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:7dbb05a8-8c07-49b0-a6b7-53d8bf463541 phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:0afc31fd-f5bc-401d-ae3e-207051587a1d phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:69676c3b-c6a8-4297-a237-386e2dda523b phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:892abcba-9d5f-471e-a350-5be96a456f6b phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:d08cc2d1-a626-4664-b9e7-8729e278f991 phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:a454786e-9b68-4b0f-b507-990f3c51d8bf phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:93537383-106e-4c70-96ed-42747df6176b phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:23d21601-d166-4520-a310-fc34fd27afd4 phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:08581eff-f0f9-4a91-b9d6-5d6a77b44046 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:afa06d95-3ab2-46df-95a2-61bd1bd13bc8 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:8fb4cd4d-ce6c-4a15-956d-9914abfca0f6 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:4f9879c2-85cc-47b7-8b30-c6419c65a964 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:3d59e57b-de5c-4b80-a83c-e9dbd4b7b0f0 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:dcf42ac4-bafc-494c-ac5a-d21bb7d737ef phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:6cec86f7-bc6a-404f-8f82-467ce96ada4a phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:b6c18272-4b89-4b41-8c81-bad5e96daabe phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:7eea0cb0-171e-495a-9666-640566d3ab97 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:3d283b8d-a25c-4afd-af11-b1b1527b4fd2 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:538656e8-531b-425d-8879-22bb852898f5 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:285aafdf-3b6a-4542-8cde-72fc1ced3ace phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:9b8c262a-681e-46b0-ab6d-11d554a1bce3 phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:200962fc-6928-4e32-8181-c46b16f00918 phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:cb009fd9-688f-4bd0-aa31-ac8fd4105bdd phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:5be1cc3a-a575-449a-b690-d2c4e675e323 phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f815b611-371b-41df-ba11-e5c2a3a8c61b phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:b015e483-10bf-45c0-96db-98f96277889f phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:fd9c87a4-8330-47a8-9dc6-7a22cbb4f4b6 phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:62005134-03b4-48fa-b6d2-c5107dcf847f phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:7509f484-a3a2-4159-87c8-8c338169c3c1 phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:9426e5fb-a5ca-4f4c-b5a9-fcc3cd67e41b phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:2cbabc82-b68c-4dcb-93d7-c0f8807cf79e phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:8f881354-8888-4a4b-9912-d72f29749b6d phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:65dcb292-63a8-48a9-a1aa-410a4a2efe58 phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f8f844f3-1f2c-45b0-8938-cd178d102141 phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:5ba933dc-e49f-4f2e-abc4-99edb7718af4 phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:64c0f39a-0e48-454c-a7ad-67152ae93961 phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:3b1bc43d-499c-489f-aabc-2fc4815006bb phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:24d4b405-3e2c-4445-8bc3-884de49b9270 phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:ea2d548e-737b-4c96-b6c4-d8d84e357abc phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:4dde639a-617c-421d-9647-9f0453e89e36 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:012f8019-e121-4060-a080-0ccc93357791 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:79f4e611-c7fb-4911-995f-159529e2ef34 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:9744ee19-61f8-4ffa-afc5-84d4f5b6bfbc phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:027955b3-1185-4cc8-b16c-d847328e1aa3 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f4119af4-317e-46fc-b31b-1791ec2a9a5e phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:9d23e750-f6b9-437a-83d7-b4c87d0da3b3 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d4712eee-70e9-4c2a-828d-c3a8b2f5c874 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:24e4fa94-cf97-4e40-a1e5-db030a4a682d phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f9c5ea45-94bc-48d8-9dbd-776ff983375b phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:173494c6-b475-4714-87e9-a031c90268f6 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:8f4e88cd-81fe-4d27-8b4f-201b327710c4 phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:915dce7b-923a-4df3-9236-d7014612610a phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:947c162b-ef2a-4d50-bef8-33206e91a753 phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:06df4e88-4c38-418d-96b9-4870084e12aa phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:7bf67a18-e177-405d-964d-9f9121cc1b26 phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:4b52072f-808f-46d5-954d-c0d7d50f5779 phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:6886dbde-3c2d-4de2-87ad-dfd705273f58 phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:150a12ec-4a09-422b-a727-386e06698f6c phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:049a03d9-e21b-40cc-b593-972e5b66df27 phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_phenotype HP:0010924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:db1d0ee2-f97d-439f-9f4a-0cfa7fac5dbf phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:dcdab1c9-e789-4e83-a413-23ef2f0c204f phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:c7c6dda6-5e44-4fe2-a674-d093ffb443cb phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:a030f95b-afb8-4389-9573-a0d0a1743a87 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:ef78f4b5-211d-4615-92ee-1cefe735816e phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:41368000-f07c-4fce-bb36-2d1fa8c5acc0 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0010924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32737437 uuid:4457aa31-95b1-428e-bd96-c4b6d3e613e1 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:e1b22424-a7e6-4873-980f-566efaa5fed0 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:645a5f43-e256-49e8-833b-122c6ee6dcca phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:89605a8f-f1f5-437c-b019-cc64d4dd29d1 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32737437 uuid:3a0b4197-b888-48c4-be4c-6d961c278646 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:7c0a0448-9a9c-45af-8159-33556129ed64 phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32737437 uuid:17fd0579-6d40-479a-a1ac-4bb29bbe2b2a phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:73cfbfe8-9b5f-4917-96b9-4c63707b0eb9 phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:54732f04-7192-4f1b-8b43-fdf3ea9bb1c9 phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:8ac42dad-b22d-411d-999f-14d8b0cb51e2 phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:a8a9bd08-2fd3-49da-b344-e5ef2eccb342 phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:85af9921-3ece-4373-845b-f882cacdf85e phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:b36a7d43-ccce-4eb1-82af-89f2ec20edaf phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:2afd86e3-7e50-4661-ad13-1437fbdc384d phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f00fdca1-264a-4f7c-b204-40d44c9617e0 phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:0d4b5d70-ba96-4311-bb3e-3c61512eb531 phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:fa881623-0556-4aba-91dc-38ba6c51b48c phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:b8099291-488b-4d06-a541-994eca1b4f2d phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:535723d4-80d0-4e97-823e-6d5481b6ff92 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:d440155c-fe0c-42cc-b1fa-69c6b488bb2e phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:587ed6bc-2d75-4faf-8b93-29e6c35adc20 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:98a42ac7-b03b-498e-8d58-97d7f3e64909 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:c58c23e1-8cb5-4a6c-b0a9-87d722a9c6ea phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:35b2330f-1891-4dc4-a236-9bf7412f3073 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:e4018ab4-832b-4eed-a70e-ef2faf667f00 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:8fccaa27-4a85-4c95-bb77-8117c92b7b60 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:6349d51d-b632-4a2a-865a-c14a1770bf28 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:a7ba4673-9339-4ff8-9f1b-7b152cea61e3 phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:cc261711-e0e4-4308-9ba5-0aa1cc059bcc phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:dcb6a160-78ac-4d40-9dcc-2973f7a1a21d phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:ded74661-ce88-4a2e-8f95-78cf9b8a1b8c phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:c2c487da-0c01-4e8b-9b7f-7a72f229db5c phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:71071167-434e-482e-bfd6-eb14881697c7 phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d4c4c06a-c9ac-48b5-9474-80b340f93f3e phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:afe09410-d731-4147-b505-8d2b62559a99 phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:a33effb6-0dbc-4ffc-ac66-25b5e66a4845 phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:9ee5893a-2f0a-4d3f-b761-c87920de265c phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:1bced1a0-2f7f-4da3-9555-e0ece728e3cb phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:64693ea6-963d-49a7-9ba4-18c7401b9240 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:a1e14fa8-c55c-4ace-9508-59e637ca0ddb phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:363181cf-d27e-4bfc-bc90-f0d79523d948 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:2b740c8f-8350-4295-9e90-a6f5d5d8bda2 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d8f68ff2-a253-4dfb-aac2-5c3455ded667 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:56b2d1d7-2bf5-4719-9680-c104485aca81 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:4bc8e72d-22af-49ae-b799-92964ff2f948 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:de9a469a-9cb7-4f0f-9355-2946860e0ce4 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f0f7b662-0f87-42db-9d27-c0869c0d2727 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:32aca8d8-5aef-4179-b225-79c756121099 phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:81875113-02d8-454c-acde-2a71db680598 phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:3fdb6e6a-0aa1-464a-bdd4-6405dc9a9153 phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:58439580-d216-4c4c-84ff-6b6551fab02f phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:4d57647c-1c6a-489a-8db3-44eda8021b8c phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:0c1197e4-38d9-4cfb-81c8-53a29f6007f7 phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:3593c6ab-306a-4ae5-ad70-4e4e1c05dead phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:feefb48c-2f5e-4408-8a55-95e4d6995ef1 phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:90779f1f-8677-4ce1-b655-8825b5015d55 phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:c01203c8-44ca-4256-8f4f-6f57fe49523d phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:0188724f-d670-48b8-b6c6-481c0abb20b7 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:adaf6927-67e7-44a2-9af9-7337c7306b3f phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:1472156c-7258-4fe3-babf-31df5b339aa1 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:9e0219bd-2247-49e5-b876-5586a0206569 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:25341969-6614-4bf7-8a94-7615f7a82597 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:9b0acc89-0dfb-4196-867e-fd400d770765 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:e28458b4-b1cf-4ed1-91b4-ea4916d48703 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:0c0770a6-fe9e-4a3a-8ebb-69bed4e4588e phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:c08b8f82-e3ae-45f7-b2c3-bf1400c86f2a phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:1621b3a2-1c44-4cb6-9b41-9805fd679572 phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:a5b94ec8-8543-4468-9c8d-c6339ebea7d0 phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:5b7aa142-86f8-4b91-9375-6effb3557c56 phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:a3d8c8fe-3839-48c6-8007-3dd1ea2ec257 phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:9debd8a1-85e8-492e-9cd4-b59c9faa311e phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:03b34e4a-d9a8-45df-8565-75e67d472cdf phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:42604955-63ec-4031-933d-8ce448427763 phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:fab86a22-ebc4-439d-8445-1448fa113c8a phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:e45c0b85-2189-46d4-a4c0-4ab1f4d23c81 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:964e952f-1f6f-4458-8edf-127912a12126 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:0cdb0ab4-02aa-4164-a609-5c74b615c234 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:cbefed8e-bb1d-4140-9ee5-2bebb1c004fd phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:507d0b2c-1df6-4b2f-81a4-057a3ceeaef5 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:5926a894-f3ee-4948-b1c9-fb033b5b5e63 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:25918750-76ca-47ec-8f3b-dc3ecc8c9c20 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:0fc85d46-e347-40d4-a94f-a0b7f51b318e phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:4ace5261-5f0b-432d-9f36-202b655ffd58 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d8e9b146-e3dd-4951-844e-19b99a805ef1 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:fc0915cb-9ac2-4cf5-b2fd-72462c36e759 phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:ef143595-59a7-4f8c-a2df-9a3a37464e05 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:47d2b14e-1640-4a77-adbb-a046926ca90c phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:5d6c36af-7711-480b-b648-551c13657f45 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:ef450e61-cfe4-4e5b-98e6-9ff46e7e790c phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:495c3589-63b7-4c3d-83cc-6768482f13a9 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:ff2986f6-5049-4cf5-98da-748c4c86246a phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:d40f4f8b-1f73-45b4-8650-ac75e4d75fc4 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:ef314e1f-520e-4b61-b1ac-4a13129506dd phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:82a7d3cb-4bc9-4a22-b13f-98d309e86515 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:e6f01035-4319-4890-8f8d-7ed543429423 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f1f3985b-1652-4b8b-afe6-a5282174b811 phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:b578204d-f77b-4e49-948c-dfe73bc00abb phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:e77da320-8ef4-4b6f-a7c0-20b91e1abdf2 phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:030361ae-2fc7-4fa7-981b-05bed2e6bf3e phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:57e7059d-ee31-42a6-836c-ad910f1012ce phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:e6cb36ad-aefc-46c9-9cfc-9725962dacd9 phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:8fb2ccfb-7591-4a1e-91ed-6d7650831ffa phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:02f3f34f-f22f-470f-aa1e-f2907f1cd69a phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:e0d9698d-0ceb-4c01-b8d8-21ac8fe41efc phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:4ab04577-d5df-49ce-b834-5f2790a22e8c phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:a23944f3-1393-4f95-986e-12152dd0fd8d phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:fbca1cdc-3aee-481d-a9c8-cfd083c4a26b phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:34769bdf-41cb-4ae1-9546-195c208cde40 phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:ef2ae137-4d3a-4667-bce3-4f11e677449e phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36695497 uuid:476eecb4-dff2-4018-bc71-56be6b64a3c0 phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:504539d4-66c2-487e-a3a2-08ea6acb1922 phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:fb59291e-bc0e-428e-baa7-0105f18ea760 phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:83d4f870-527f-4738-9f1f-a6d3b2514b9a phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36695497 uuid:bc8f7999-1216-47d9-b94d-ea05ae1c7a3b phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:c355a15a-5416-400a-b608-75c7bd2c4220 phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36695497 uuid:c490695d-b14f-45c0-9e9c-8fef116f01f9 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:de9da9e4-5775-45e6-9e0d-be12c777878d phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0007766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:e485d299-7950-4693-81d6-ba2c609a8609 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:63704e03-0cbe-426c-a687-7f8add245590 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:380c7a93-d654-435b-81e0-c54dc7defcc2 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:e8e580bb-9299-4657-bd3d-851acc10d7bb phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f12171b8-0a81-4df3-b5a4-8e8768a843c0 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:02813515-ff65-43d6-9fdd-447440497d44 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:c6739808-bb05-4cac-a267-ce68fbb65cad phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:bd12db55-b73d-4aba-a36e-a5ccea084c51 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:ae7f7959-70ed-4915-8717-0dfdb443ac18 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:9b2bf8e0-379f-4426-8a2d-dc083aa146ff phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:7f4f2247-4ab0-4085-a86a-8edd200e3744 phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33633439 uuid:ccbff3cf-5da8-4a09-8bb7-c7d2e319dc56 phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:3ba24173-2471-47f8-a7c3-f2e1715cda71 phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:411b1075-ed69-49d3-8ecb-ef579a34b00c phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:f3ff6b91-26bf-4f69-8050-101f2ab26ece phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:c3e9fef3-9ca7-4a49-bc36-978f3554a6d3 phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:a806c65a-d252-4f55-b4c4-8fd7b09e089c phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33633439 uuid:62e44221-b812-4156-8f2b-ea59573322d7 phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_disease OMIM:620731 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:4d324954-d953-4389-9f6d-7f0cad7cebfe phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:has_gene HGNC:4043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33633439 uuid:adb4b177-3eb3-4657-9030-3e3f38caf1cb phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:5e1cfffe-df27-413e-85d3-287836a3e73f phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:23015488-c321-446b-9904-a4cd9a05b87b phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:d07f67d1-f84e-408e-944c-ae650db1b451 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:25f673fb-c721-47dc-bd36-6a7911c462aa phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:9e94b4d5-673b-43b3-a63a-4fcf6ea99838 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:6d18bcf8-e199-4df5-89c2-11f444d94823 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:e651386e-bb10-43e5-a951-978791001b9b phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:2f140dd8-58c0-4eee-aaef-5922b751482f phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:8cb8a66b-bd79-4ea5-a5ca-3c26eec25873 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:07c1f226-e89a-4c98-9fde-7b9e569cc95f phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:893d8856-108d-4963-a3a8-260474d072d8 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:8770ea2c-f70e-4294-b205-1836a733d56e phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:8d4b45e2-5ee9-473e-97cd-011fc941a03b phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:355fb5e6-7935-4e97-8aaa-a17f75d32995 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:d9631f3a-2b77-46ff-ae7e-65e023709ae8 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:2b99132d-3334-4b0b-898c-6bb3dba52304 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0012427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:b7cf299e-0f28-4bfd-bcbe-e7b43e395b47 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:4622d5d0-01f5-417b-891c-9e1eee68d2c1 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:787544cb-b488-4400-9a72-831a941180ee phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_disease OMIM:620502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:b3aa6d7a-ecd1-41d1-99a1-138275fdf937 phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:has_gene HGNC:4070 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:f5fea2ca-bf91-443f-9405-8c809871f0d7 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:eb849df2-eb11-4666-a369-6aa314ba9daa phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:74397085-dae4-4641-9c29-f57fd6252c99 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:af38cf99-9500-4f49-b53e-3bae3324969d phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:91e1aaa4-fe20-46b1-8c96-879be778d35e phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:ca5ae083-778e-4244-8903-ad2fae3bab7e phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:6ade2aa6-a48c-4108-b441-7767aafa0dd7 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:b362edd5-ccd6-4fcc-a8ca-ef5d491ad0c7 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:1c3cf7fc-ed01-42e1-9abc-377c9d1e4722 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:b47b0231-f218-43e9-bb5c-2d070310da55 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:53b4c3e4-3169-4297-82c6-6873d90c1b29 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:688e1b91-ce54-4623-ad13-e9c483d03d25 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:8cb9205a-63ec-4c1a-b10b-d0f789928dd8 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0012427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:247a80e2-969a-4e3e-944d-1d5313bf0f60 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:994339a4-bce6-47ed-9960-a8fc24729f03 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:c56f6ff1-e53c-45ee-b899-a6b3797b4c89 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:1d050964-87bd-4a11-9d5e-4ea9c5d09211 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:dfd3ffd2-270c-4930-947d-3a15bbf766d3 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:6abdcdaf-d9f6-4d73-822a-0b8181068418 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_disease OMIM:620502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:445d61f3-c98a-43f4-a0f0-9edff5448b17 phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:has_gene HGNC:4070 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:3efdf82c-343e-4fd2-943b-1919411c495c phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:0cf79720-66ac-4430-bccf-a0664c8fe460 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:3a113cce-73e0-4244-9eb9-db32d7d403e5 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:0196f8c1-00c0-4ef0-842b-558069c271fd phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:a56f1505-d800-4463-be60-403ea93fe95b phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:1bbd0453-8752-4777-bc40-72920fffe89f phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:4354187f-b2a1-4913-9c4e-a0969a41d07d phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:bb958b20-458b-418c-8aef-cf540bed9a78 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:47b3689b-2d02-4023-8099-444339a45120 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:8975cdd3-2228-4337-abcc-6293b2f7a0c1 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:9d7d0a68-3200-4cb2-926e-6bd2660cccd0 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:425a1f76-f8f5-47a2-b2ff-d02cb13f9058 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:0db971d5-d1ca-4dfe-9a1c-af73c0233393 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:9c204a88-afff-441a-aa71-8c7d79a145ff phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0012427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:472e686a-b1a9-498e-bac9-86648fa00ecb phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:82689853-62fb-4ed2-8ba3-f1ac7daf69aa phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:c598bd9b-f92c-43d4-9cdb-110f86bd0bf2 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:3dc88828-4753-4803-aa61-8d976cc861c8 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:af569bee-a9a9-4065-9367-7189ee26aa17 phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:a299ec02-c57d-4e9d-a257-68c1d28dd2ee phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_disease OMIM:620502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:798f65b2-7574-4ed9-9264-7a14b8f4731c phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:has_gene HGNC:4070 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:82f1a9c9-b240-4f4f-82ec-ee1ce77c19ed phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:5be55b8b-b55a-4da5-b844-f0457ab24c07 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:2e76a7e3-abd5-484a-acc4-5367f4e960c4 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:29e8600a-8267-48d9-a259-0d6d6d3a88d6 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:483b9307-23ad-4b85-bca1-ad636b483c9c phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0012427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:fff15374-e7f6-4ad2-b577-50f3fe4cbeba phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:7c52cfc6-a2d1-46ae-ac4a-6d3868c84843 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36103875 uuid:3f744be0-2fdf-4e1c-b990-c8914ae67ba1 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:e35f2a4e-3b6f-491a-8078-908a581030f2 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:f30ab33e-9530-4d0b-9b0f-b04355978a08 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:d7854116-32c4-48bc-91fd-550bd58dfacc phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:7f0e241d-000a-4aa5-a064-9a0ae8f9c58c phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:587ecf28-2008-4232-809d-eeccad17a175 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:1d0cfc7d-00a2-4f63-a137-ae79eb45dc0b phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:66b33e76-d7b9-48b0-8c4c-c6268820775a phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:0a3c92e8-eb1b-4131-ad2b-f04d0d5fd6a1 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:e3a9bbf4-4a7e-46d0-bf9b-c13709acf460 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:df58b020-2ab1-498a-a34a-08e0a5625604 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:690e931d-9d5b-49cf-b2c9-04ed2ad4f6a7 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36103875 uuid:0ea58664-0dfa-4580-9754-a4e8264125e0 phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_disease OMIM:620502 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:cf21897b-fc90-4bff-aa8c-a418df9e603b phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:has_gene HGNC:4070 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36103875 uuid:1c0e609f-50c8-473f-9c17-4a2c1cab9713 phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0011951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:26567009 uuid:5558cf01-267b-4608-8696-bb1ad680a18b phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26567009 uuid:842ea3d8-984d-4e64-95d3-0820b4776468 phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26567009 uuid:c8a0f4e7-2556-43db-923c-2bce58ef5151 phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26567009 uuid:51d5194a-53a5-4406-887e-01491a3863ac phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0034322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26567009 uuid:93cb5d71-b8e3-49fc-87bc-7ec535ca4ac3 phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:26567009 uuid:c7e2f26c-2be3-4b74-8904-8abcb92d5a21 phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:26567009 uuid:9168bbe4-605f-43c1-a85b-acd5ab4798ba phenopacket.store:GALC.PMID_26567009_male_child biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:26567009 uuid:a848156f-7f9a-4ef5-89b6-5ae792792dd0 phenopacket.store:GALC.PMID_26567009_male_child biolink:has_disease OMIM:245200 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26567009 uuid:1557d5ac-c5df-4e5c-98a2-09063ae1d45a phenopacket.store:GALC.PMID_26567009_male_child biolink:has_gene HGNC:4115 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26567009 uuid:f72cfce6-94ab-4cdd-8240-491657eddc22 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:e2c3ac78-f32b-45eb-af8c-c4c8e01397ce phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:ff8ec91b-e639-4fd7-89da-df21808a53b7 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:87355b83-454e-4f72-9853-80d18e379dc4 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:9fcc84d8-9f17-4085-b849-df54d8bfe1d7 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:663967ad-de2f-46df-8df6-d46e3968d205 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:abe1a5f5-218c-4f71-998e-a66888d18749 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:2bed2755-a6af-420b-a589-bf52527a12bc phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:7ab01d25-0698-4d85-8e62-c9d0863e678f phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:57de84ca-8697-47e5-8f8f-2300a61ce88c phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:9aa6bc8c-bb18-4031-a7d1-ea0ae51b9a1f phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:67f43c38-a533-420f-a743-b61aeb28f5d2 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:860fae62-489e-426d-9234-0f55633ffe36 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:93bdada7-541f-4b05-97e9-7f4f4718bbf4 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:445a4169-2c8f-4489-b286-ec1118e4af5d phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:cb4441d9-a4f8-4301-8e80-423a9326d338 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:fccd6484-1060-41a1-a04c-497ef1c7e12d phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0040185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:99992866-160b-4c9d-a7fc-99ec8a84e76b phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:b89e8720-8954-4977-9970-58659e46e2c2 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:3c18866d-092f-4a5c-b4cb-66bfbc7bae97 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:7031d8b9-dfac-4314-b80a-24aef9819507 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:f1f3f4ee-9f99-4279-a9fb-1d099ed4057d phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:1714e446-d654-4500-a4cd-7c2f89021fc4 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:8e2da04d-63d9-4a74-ad0e-857ccff6f7ed phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:0765ea60-d4a1-4690-a5ba-0f8bd017cff6 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:f4273bb9-ffc7-40a8-9e36-97a12158c3ed phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:d77fcabb-8efd-42cc-9c3f-796f4ecb83ce phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:78b553a6-ee0c-4eba-8d73-de7c45e0fd58 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36395340 uuid:95b296d1-3de3-4417-b188-306a5aa22465 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36395340 uuid:3fa40967-4123-4db1-bed6-a6ac7460c3c7 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:8a3b1ab0-d4ce-4a7f-bfd9-52a07ac998e2 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:623c1cf1-80cd-4cfe-aca6-efc6580ccb2a phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30247636 uuid:eff05223-8baa-4e98-80d8-ca8d6391929d phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:e4e8cbeb-55a1-4372-b8cb-786a5b9fab02 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:c8309d8e-201c-4d8e-ac8d-9d5c65d29697 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:ea68eeba-8e1f-44f9-b93e-c6d620c54c60 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:a910f3e9-3aa3-4a44-a9c6-6404040eb388 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:eeb57f41-a810-4087-8eac-9c6f49e7b0e0 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:2d6f2a30-102c-4924-ada7-8a079c8b98d1 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:155eebf4-7a3a-41a6-93af-f7bf078b6372 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:f3a24513-2266-4b5c-9b57-e8d02a30f9ef phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:b72ada62-ec3b-4a12-b353-dfc6ff4e58bf phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:371a7a17-a2f3-4014-952e-64ace5f0717b phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:0a5fdf14-9465-4762-83a6-c50058993d45 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:58091c27-808f-4299-92b4-3a19723c3116 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:3292161e-61b1-4c34-89b3-46dd717d633c phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:cf77c29e-2c4a-4736-8c4f-b3ca1ac76fbb phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:c5a5bbe0-4b6c-4140-874e-f5703bea9d52 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:b469c3e9-9616-415e-946d-5810fe5c76cd phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:8c44f408-64d6-478c-8b3b-88448b3fbbd1 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:fe918a80-fe84-43b8-84ba-17c139cbddd1 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0031385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:b0493cff-40fc-48d2-bc1f-2e453f99f4df phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33510604 uuid:3df359bb-c1c7-491e-9d98-04c4f960f352 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33510604 uuid:6537d9d8-2435-461c-aaeb-7b579511f6c2 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33510604 uuid:779c532d-5bc0-403f-8ca2-bc3f88f52b29 phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33510604 uuid:ab954f52-8dcf-400f-bf32-904a50dc1098 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0040185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30247636 uuid:ac8fe80d-046f-499f-a769-b72f6aaee996 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30247636 uuid:d305a240-c97b-4ce2-8fa1-59f3bca86ac2 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0031385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30247636 uuid:3f101eb2-8a56-4e58-9327-9afc5454fe3d phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30247636 uuid:36ce3f43-d5a8-473a-956f-a224f6d87504 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30247636 uuid:5e636b4b-f5f9-43e9-87e0-759a60b006c0 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:d3716865-1e68-4806-a27f-5b91c03b6dbf phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:432ebebc-9b34-42fb-ae02-8fdc444748b9 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:e3d1aba8-fd0d-4cb2-bca3-3dc5e0ffd4fe phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:05aaa75c-0a5a-4e56-87b5-2f3177787b9f phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:4ec54248-037a-4294-a454-377756f98588 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:b46ff99b-a897-45a2-896f-1d573e5fe948 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:f9016d10-4993-4694-9d4d-64f582abd0ed phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:1a5bead8-2ad2-4754-b20e-e977cc8ab8a1 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:d5b434a2-a278-4d12-8aad-0a56767ea01f phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:6ab3b40d-af09-4307-82bf-22dded228cb1 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:30247636 uuid:fa8475bb-5c4d-4976-85c9-98a7f659a261 phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:31161603-a690-4f43-b59d-6d02653d1255 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:ca200b47-5c54-4038-88a2-1c6e311d4301 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0040185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:07928083-c7c9-436e-8f70-d7012a870352 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:bce5b182-c410-4a4e-ad0f-33303e0c1e5b phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:309946b4-a746-4b89-b7ba-6af68abf2a94 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:0cba1741-4b67-46c1-a140-4e65b425cbef phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:4b70f203-4775-47f4-abec-5266433c02a1 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:20a8d5ee-8b66-4e1f-b47a-e94ab7cd8603 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:3fdf3a3e-fd11-4a8e-9544-bfdfc4ddd703 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:f81b7a80-b88f-4a6f-83b4-51528a4af9fe phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:04a4e4de-1638-4dab-b38c-c80a748c36c5 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:cf41a5fb-53fb-4b30-9fda-57a921a46710 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:8297686a-6cb1-4351-8b11-f4ad840604a9 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:3274f49d-4854-4b4a-ba1b-453c5dd6cb25 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36395340 uuid:67db0cad-3be8-4fbb-a25f-0b307f4d5595 phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36395340 uuid:0e092ce6-c9e7-448d-8095-9d33dbfdec94 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:55131845-1966-46ed-ba99-a793c00655dc phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0040185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:ebbed6e5-dc9b-4670-8a72-5fe27192066b phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:d6936544-b4fc-48f6-8d11-e1c1b41e2079 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:b2a20747-5656-4363-a057-6d6b9993ed6e phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:9a3fe3e6-0155-4ed5-87bf-788bed2e347e phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:e90ccbd9-e796-472f-b5cb-baca38727c4a phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:e6c8d7fa-bb16-40c5-93e3-86543536cf4c phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36395340 uuid:2539006b-d934-428d-92ff-2bfe8a2bd26b phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:d1ff80d7-cef8-4697-abcc-8618721b5c09 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:c4b6af6d-9c60-432a-a5eb-18d82345cd6e phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:50d9151e-c85f-4b02-84d3-629732ef0684 phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36395340 uuid:2b63c987-6cec-41e2-8139-76ee837b39fb phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36395340 uuid:fc7e996b-be25-4656-bdc9-682bf60c2a3e phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36395340 uuid:f0add362-8f40-4def-8335-c06f26fb790b phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:30247636 uuid:5d2cbcd1-6543-4106-b463-5a9c6d85edae phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:30247636 uuid:89473133-a993-4f7c-9bcb-74bbb0e96b14 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M21D infores:phenopacket-store PMID:30247636 uuid:b3fd8e1e-0565-43ad-9fd6-57686ee0778d phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M21D infores:phenopacket-store PMID:30247636 uuid:36e4c0bb-6cf3-4a08-b5c0-f76dc63e0b67 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:30247636 uuid:fc372340-71c9-4fde-85ad-26f26a4028e4 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:120fa662-a071-4332-9d72-1ae87895b6bb phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:34a1726c-d3e1-43cb-b486-22a5b27ebbae phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:49e9ff5e-1b5a-418c-9264-d284e56c9f56 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:6352f269-cd59-4576-b527-88ec4822b148 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:a7026ccd-58da-4aa0-b1bd-4b989e230328 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:e66622f1-93d2-4665-981c-3a73e06e9544 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:fa558d1d-7441-46c8-9400-96ac81e3602b phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:4a3cb180-f932-4a29-a84d-2d95843dc295 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:8c989d82-b3e8-4977-9da7-25a823c449b8 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0040185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:34159722 uuid:f29c1951-1ad8-4022-92ba-796955ff9f1e phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:34159722 uuid:e20a146d-5f3b-4811-beb7-bfe2609f7901 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:34159722 uuid:9c80ad9f-e84a-4e02-b098-67bbed14b6a6 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:34159722 uuid:499073b0-f061-4452-81f8-66741ecf78ed phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0012024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13D infores:phenopacket-store PMID:34159722 uuid:e9133c83-c197-46c0-a529-fa64bf96e31c phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34159722 uuid:087708d0-326a-4cae-82d2-7dfb1c2c4edd phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0000421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34159722 uuid:09dfd3ea-3c55-49f2-9cbf-10f16c551b28 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0000225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34159722 uuid:dd75f27e-8b85-4d20-840d-f8e4fecfd7ad phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:4000208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34159722 uuid:9b82aaff-35dc-4cfa-b4d3-74abfdf6c838 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34159722 uuid:77d29a95-b01b-4113-b04a-a8d65072c411 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34159722 uuid:24ee77c4-8072-4de8-b419-197ef9b45081 phenopacket.store:GALE.PMID_34159722_patient biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34159722 uuid:e22b5f48-f378-4245-8151-a1a599245510 phenopacket.store:GALE.PMID_34159722_patient biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation P13D infores:phenopacket-store PMID:34159722 uuid:71fe3592-fff3-4fda-b35a-931a901bff05 phenopacket.store:GALE.PMID_34159722_patient biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34159722 uuid:a73941a4-b4d4-4f77-9baa-7145f34f94f0 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:30247636 uuid:70003179-0bcb-4b8f-89dc-1c7ecb84e745 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:6891ec5c-9b62-4a9c-b7c8-6b5e0a0a67d5 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:711f8eaa-1e80-47cf-b432-cee8f6845bad phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28D infores:phenopacket-store PMID:30247636 uuid:82ce7a46-c6e5-4e43-91bc-e0f557100c9f phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:30247636 uuid:4f744ff1-99c2-4792-8e22-22c20272d902 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:ffd07158-fb1b-4248-a04c-5e322621a527 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0031689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30247636 uuid:3a589e15-e7c6-4e07-9149-836e47091b8a phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:cc2bfaa2-3857-4861-96b0-773e91cb0940 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:87657475-6857-44a8-a633-2e3ca7524ee8 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:a79919ce-470c-48b7-89af-c2a14d4c9d6b phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:cf34d1a4-eabf-4018-abce-565853b647fe phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:e134113e-c017-4282-a00e-9e41fe86a071 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30247636 uuid:a988dcb3-c496-437b-af01-d141fcbf4a29 phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_disease OMIM:620776 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:3429a6f1-b223-4252-9854-14969592910b phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:has_gene HGNC:4116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30247636 uuid:b689f01c-d389-4cbc-bf27-0db1f23200ae phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:4000208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:25681079 uuid:dc736ee3-a53e-447c-a91b-03d1ca2b3177 phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:25681079 uuid:7b8ac8cc-f755-483c-b1da-23d2d4bfc40e phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:25681079 uuid:24b7327b-dff8-418d-921c-72bc9588a85d phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:25681079 uuid:65bdfd2c-d69e-46d2-b322-e3453b4f95f9 phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25681079 uuid:f4675637-349d-4900-84f9-e7cbc4bdd5b1 phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25681079 uuid:2fee47a4-8169-4ee0-acf9-c5f44c1bf8a9 phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25681079 uuid:e13845f4-8677-4cb8-a6dc-cec2b9d1251c phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_phenotype HP:0012024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25681079 uuid:e65d9e9e-ceea-4cf8-a43c-05eef0bf7b60 phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_disease OMIM:230400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25681079 uuid:03b91a2d-2127-4c1d-aede-c7066b8e9d24 phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:has_gene HGNC:4135 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25681079 uuid:9797f2e5-dbe3-4e0f-88d4-afce94bdf4db phenopacket.store:GAS2.PMID_33964205_individual_V_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:33964205 uuid:f503fea0-9de5-477c-9e19-0d8a570e2ecc phenopacket.store:GAS2.PMID_33964205_individual_V_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33964205 uuid:be1960e6-b2a0-422f-9a6c-a6c208d23a3f phenopacket.store:GAS2.PMID_33964205_individual_V_5 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:11e5e317-d925-4788-b754-29b94bc1685f phenopacket.store:GAS2.PMID_33964205_individual_V_5 biolink:has_disease OMIM:620877 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:33964205 uuid:a5af30c8-8f13-41dd-b6c2-ec4c3674ce4f phenopacket.store:GAS2.PMID_33964205_individual_V_5 biolink:has_gene HGNC:4167 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33964205 uuid:804c94a8-cd27-4a80-8fe0-fc1411be07cb phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33964205 uuid:feace04a-307d-48f2-8657-7885f668f411 phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33964205 uuid:8aacd54b-c6a2-4e4f-8bca-13367e6b6d81 phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:5011e486-ed86-46c1-a5c0-a412de57ad39 phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:ed20e8aa-c23e-4354-a0ec-80494ec204e1 phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:has_disease OMIM:620877 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33964205 uuid:14597cde-305e-449d-ae49-31dc46d88bf4 phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:has_gene HGNC:4167 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33964205 uuid:10940bf7-af01-4876-9628-ddaf8a40a14d phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33964205 uuid:b65cd63e-6227-4402-9473-dcff09fc9ff3 phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33964205 uuid:4637ee64-703b-45d0-8489-aa8889525a33 phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:1d2ed9a2-79c5-428b-a36a-d75d0b2413d2 phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:1e040496-6968-45f1-9c75-8c2afa2d8dac phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:has_disease OMIM:620877 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33964205 uuid:ea4ef08e-56ce-403c-95fa-de3d487c77d2 phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:has_gene HGNC:4167 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33964205 uuid:049de113-0e1e-4cc2-ba04-80ca8fe4e6e5 phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:33964205 uuid:7f6c7f92-70b2-4858-a8c4-b54948a58536 phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33964205 uuid:961eda23-b59d-49e5-a907-9f3d6698d68c phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:a7293274-479d-4ecd-8351-c4f390bc5c03 phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33964205 uuid:482eb7ef-f465-4823-ae25-98441a5addd6 phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:has_disease OMIM:620877 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:33964205 uuid:560cfc4b-6b1d-42b0-a1a4-5c9e7bb48661 phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:has_gene HGNC:4167 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33964205 uuid:c7d506ed-1b5f-43d1-9be3-bf1fc4564d86 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:36fbae30-94da-4882-843e-1dae34d62917 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:eb300b76-7950-4a1f-b8de-19daafe7f009 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:8af3ddd9-aa10-43e9-bc34-62d19cfd459b phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:8b025285-0394-4b29-9ab2-921eb62cc461 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:f5cb7b01-7035-4056-b6b7-52b26ace0e78 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:386b26dd-173a-4e3f-9156-c7ff9e9d2d01 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:7b02625d-df46-4e8b-b4ef-7580d231db14 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:ea128208-6cc9-4ec8-81e3-72be541cdf7d phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:8c42e8f4-20b9-4d60-820d-88b55f5fb6a7 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:5838e385-5a77-4c7a-a600-77144c2b87e2 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:fdfe80f3-54b7-49a6-b984-1fb8dc3a48f1 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0033442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:645901a4-02a9-421a-b59f-2bd6008853a2 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:2c4f851b-1a89-4da6-aec2-2df80be5fcb1 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:691bb34e-7c22-4c9e-b7db-fb532803fed0 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:370977a1-be44-4fa6-a39b-236fd7350909 phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:27672653 uuid:6d5d4c18-cb9f-4ff9-a621-2d2bbe99055c phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:dc64142a-6fb1-4a0a-9877-ccee14ef8154 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:a5af52b6-b393-44e0-b932-f27ddc8483db phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:d1ef57ab-b449-45e5-b2dd-0bc45a44f236 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:56e42ea5-ae2c-454a-af79-9cec5bbe96e7 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:853e2902-a8c5-4ce3-aec9-4a4c17bb8c05 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:acad855f-50f3-4b89-9d35-7b3a5ae75ac7 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:57e77c34-a1bd-42a3-acd1-b727a49a7582 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:2b626f7d-2394-4f8c-858f-c844fbf924a1 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:e2d16b34-9e96-4085-b20d-784f73459509 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:8f8fb088-bba8-42e3-bb9e-1714ecb5bc86 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:1bf4839c-6c71-4551-90d7-cc2f2c67c55f phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:bf61ffb5-cc17-4b73-9537-f54402e7a51e phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:a4083f4a-41fb-4fea-94c2-c973bbc8e9b6 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:001ae191-368f-4ab0-a345-40662d2f4d0c phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:ad2474fd-c3d0-4d45-8919-30fcdcdf7a98 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:27672653 uuid:4a4b960d-6322-49ae-bd90-e787334e3a04 phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:410440b5-4963-4044-8fb6-cb8c6ea4680b phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:00fa22ab-6f27-490d-897d-92acae21a56d phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:0c84ad61-a24a-4c85-a124-327a213e86a3 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:22543822-5f65-4561-9767-aac32bef60bf phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:06953f47-6be9-494d-9904-c7890c117387 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:60c91ef7-e283-41f4-8d73-2d8d1d3dd293 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:21a86eb1-7d49-4124-9456-7b2363c375e8 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:0d2d0200-fe2f-4e6f-8c31-7880aa27adea phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:a1cdd2cf-9b17-4899-95f4-ab5736696fee phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:6be19af1-da6d-4ba3-acb9-aa9f3de833cc phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:fd0640ae-3435-4fcb-afcf-871187b5bd91 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:e1fab0b9-6f26-408a-a138-e7b13bca300d phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:82c5544a-62f6-4638-aeeb-2d418e40f638 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:671e3e22-dc65-4225-89a9-c1c2c9f2a476 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:a97dbddd-fc80-465f-97cb-8cddb8d9e2e7 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:27672653 uuid:ce7fb781-2042-40b9-94af-7eb2f9d27c23 phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:41da2a21-26c8-4c1e-a1bb-f45d1ad73269 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:25236bd3-37e1-4402-8ef5-703b9d32f3b8 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:c4e56525-61b6-4d67-8431-58b9144a8ee9 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:38ae8492-5730-4f31-b22b-3c8939e9fe54 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:4add8bf4-4a74-48b9-aeea-91f6629303b9 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:de5e504e-6c44-45ec-85bb-726f4c3331ff phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:0b98c7c4-2aa5-40c3-ab64-2f9c7ac48743 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:4b1b998e-6c31-4829-ada5-4ceb9aa7e7b2 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:deb12af7-aabb-44e7-8955-b6abbce10cca phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:e22896ac-3001-4c18-bd1e-1a66433a0474 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:8922ec90-9eed-457f-bd73-65bd5a3a2078 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:f610e9e1-2d26-49dc-87aa-87f4929640f2 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0033442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:1bc32edc-a0c8-46df-9253-41ba31111dd0 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:80394198-105f-4fba-acaa-a440c2e6598d phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:68610b71-a909-43dd-af5d-f672b5b2d5a4 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:789fe5fe-52cf-48cd-b6aa-04b6fef7f418 phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:27672653 uuid:854c77f5-c1a1-4eb0-aad8-323aebddf1fa phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:a6c5c5a0-e94b-4e07-a0d3-f33e068d2524 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:c9b6facf-7f90-49d3-a384-c476f47d3ee5 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:f2da8345-da28-4b14-b3bf-5b8e31aaf357 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:c4960da3-0582-4e95-869e-f4aa73ea47b5 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:2922a071-8fed-44f9-b12d-3e83e8fa609e phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:156d734f-4aa6-4b8b-9b55-94cc930608da phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:d41461b4-9087-4c4e-a6d2-625c5152a838 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0033442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:5d0016f0-f201-4e67-8ccf-015afc59268d phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:ea178b4d-203f-49ba-80d5-08a46238dcd4 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:f727902f-9591-48db-8f31-8ee6de14a70e phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:8f3d1045-de61-4d32-afa9-bb334dce9498 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:81a735c1-2757-425b-bc53-134c079e9b1c phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:264d65d9-738d-4fdc-b07f-bb338506afc9 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:62a920b3-234d-4137-9c0a-dd3bca47f52b phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:8be77d68-c2ce-440f-b971-f2423c526cc0 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:b9a62bae-bd04-44da-bff9-3a6986e58fd9 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:27672653 uuid:82cecd48-f56b-40dd-a4b8-86cb0f476fb5 phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:282d78e2-63f5-4d01-85ef-526430b392f9 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:f9180dfd-0d26-4717-afee-812ddbe43b06 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:18db45ea-5d7c-4e8e-8575-be45b9d5df34 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:7301fec5-0606-4ade-87ff-d7ffda5651ae phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:41289f0b-9cc9-4667-89a1-eb8672fc4f52 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:c62284d3-1b1b-4509-9be1-ea4c3b0c5fd9 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:0d97fd9e-b9fb-459a-9887-19ee4e2c3593 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0033442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:dde24665-dde4-4422-a30f-7f4044da6859 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:e931e5c7-c96b-4434-b057-0404e7ab01c3 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:a3ca0901-cbd4-4c9a-ba38-e479c699460e phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:3977b24f-8650-4325-b8c6-7d79c3d87e82 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:f67b6700-a6dc-4728-813b-038693f2cfca phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:ef83d2a4-d087-4c5f-96d0-577041d9a116 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:86702e53-95b9-4b36-a988-32e3ebd7001a phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:3ad03354-d274-4b81-8631-2fad21ce0373 phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:0d2ad808-d4fe-4457-84bd-99d88b86c9ce phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:27672653 uuid:51e0d1f3-afb9-45b2-9fe2-f062c1788f3b phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:f21312fe-7282-465c-b612-e59dc9fd9a29 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:94342e43-dd8e-412e-b54a-bfcebc667c3d phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:b8206622-7e3a-4694-a6b1-0240170fe546 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:c58f1b34-b700-4ff0-b365-391274d4b1af phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:15e27ac6-006a-45a9-b3f7-0af1a1d423fa phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:c92c4fc2-f9ed-419e-8370-5b8ce1652070 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:d09a84d0-6f93-4987-9093-6c9f62d6eb4b phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:bb902d59-6bbd-43ea-8c43-0707bea37bb4 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27672653 uuid:32088387-1bf3-48f9-b91a-803545775546 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0006846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:0080e78b-79b4-42db-befb-dec4974bfcf2 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:a042190a-7c7f-4ebd-af2e-afaccfebde45 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:e55a95ea-6796-4fd1-b6cb-545d7cc7d7b2 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:3b26e14e-458e-42fb-857f-ef0b0890e8d8 phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:b208847a-2171-4b0c-bd80-0b85bfbcb04f phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27672653 uuid:bf09aac9-2221-4d83-8c32-04440328507a phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_disease OMIM:231670 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:27672653 uuid:52e0af7a-2eea-46a0-a40f-371461d4347b phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:has_gene HGNC:4189 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27672653 uuid:0418b58a-0037-4c93-b860-2a14466f47a2 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:f775bb5d-1779-47ef-858f-a8851a4bdbab phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:0e00e80e-36a7-4d0e-8e4f-fc10129a8cc3 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:fb10dfb6-3dd6-4560-b95a-b25ad25f9788 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:0aba4f5e-4920-46d8-a53f-82e45f30e8d1 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:f36e5b79-4e95-4a39-b068-830583380f30 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:7ae4954a-af74-4b5e-bdbc-c00461ca1f51 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:6c7d5941-4658-4ac2-9fbe-70aa644d1e68 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:741c48ef-d14b-4575-8238-0da0e82f9b50 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36190515 uuid:927f7d33-5aa2-4c07-b3cb-22c7a4a6bd44 phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36190515 uuid:28ae685c-0eca-4720-a612-f6a81c23562e phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:39745073-4b13-45f4-b272-fafff9ba4a93 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:da8b3dc3-eead-4210-9e89-db56515f7eb8 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:d49d9eef-f4bb-488a-a4ff-171591cee86b phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:5b1963d9-3ad1-4b32-88c4-8c96c9109f0f phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0001410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:ff9aa414-5140-4b53-878f-aac7ffd9aa6e phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:4da432f6-7d52-4fa6-9e97-05094d7a5899 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:6b905b54-e120-496f-a530-3324e99556de phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:064cb4bf-cb1f-429b-8ca7-16b4c1ca7b44 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:b60c6b7c-ae79-4c1d-add9-fdb68d1f21e5 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:7fa1745b-fdf0-42ec-ad49-383c989d4268 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:36190515 uuid:7540b844-9281-45bb-8c1e-dbd223ef63d1 phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36190515 uuid:ad2bdc1a-df4c-4a06-bc57-dc39a49253c9 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID: 33890291 uuid:8d63d5f8-1636-4966-8fdd-b385144e7b24 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID: 33890291 uuid:a9dbcebb-4223-4962-a3ca-cc9b5eee4f28 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID: 33890291 uuid:2c83eeb2-18ed-43e0-bec6-e9caa8863899 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID: 33890291 uuid:e146df47-eefe-41ba-8998-b872be88bbf3 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID: 33890291 uuid:6b3c4d6d-892f-459f-a273-77c6b7cc6635 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0034893 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID: 33890291 uuid:e9100e99-91ab-4b76-8b27-c5f970d67f9d phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:ff4a15fe-4264-4f4f-8f59-f1ad6f651416 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:a9587e45-8f25-40d4-95a6-32823a973630 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:47fcd9c8-ef6e-4fd6-9587-0e0e02247beb phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID: 33890291 uuid:eb0941df-b1a6-4d44-bafe-c359a5447911 phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID: 33890291 uuid:c84b8664-2127-4991-90ed-c04ac01ee6f4 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID: 33890291 uuid:c3842bfe-3b4f-4b73-bc33-7a788a44e0cb phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID: 33890291 uuid:58382661-3b60-4e57-a8d0-fb7d1039788a phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID: 33890291 uuid:4e9b2026-af3c-42ac-bb22-950604018a42 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID: 33890291 uuid:09192aa2-0881-4ac1-9c4d-e87979e5c1b6 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID: 33890291 uuid:be2d470f-84fe-4b75-87a4-820cf40f27d7 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID: 33890291 uuid:55ebbbb2-cf2a-4b49-82e3-198a94dc6254 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID: 33890291 uuid:fe038c7a-7e22-403f-9c57-adc0292b34db phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0034893 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID: 33890291 uuid:3d9f1359-7a53-43f3-9ae0-3fe3ece5f03e phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:36c4f3e3-6223-4698-9c02-c02f9e0cd6c4 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:addb3f9b-31da-4451-9104-9ccab04338ff phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:17a201b2-f05b-48cf-afe3-f5aee22ce944 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:a3f82be3-56aa-4baa-934b-b1b9c073c921 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:b98e5a70-27ca-4447-af33-7a310aaee02d phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:2109c6c2-7c46-403f-96b6-7330a41ceda0 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:df6aaeb8-2fe6-4dbb-904f-687bfbc56c31 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID: 33890291 uuid:699b252b-0285-45b1-b989-a5ec8cb4bcc4 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0003228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID: 33890291 uuid:94281358-5d99-4e4e-b0da-65a27fa96063 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID: 33890291 uuid:8c407862-4e0a-4ee7-997c-542a5a3d0eaa phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID: 33890291 uuid:49a53847-5aa5-4c24-b787-c9d7e1314685 phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID: 33890291 uuid:20710778-948f-4e4f-9548-47bdaa147d1d phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:416bffb0-9c5a-4cef-ab60-fbcae6266a8b phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:123bd077-d050-400b-8b00-7fa77f5e22c7 phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:2d499cb1-952b-4b66-b53d-bf26dbc2aa3f phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:73542f33-8651-4ad0-af46-da29482b0a40 phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:fc93b8fe-7675-464b-8c1e-0c18f2e20c1e phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:95fda82b-dcf3-4c95-8c1d-ede5b9804268 phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:9288aa58-e0ba-4018-8711-93e9fcbc8e74 phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36190515 uuid:9aa83fb4-1847-491a-ae32-cb161bf169b7 phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36190515 uuid:747ada62-5b7f-4f24-8f57-f8f19a0b9ce5 phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:08f673fe-4a63-443b-9e8b-b963c3cfd1db phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0032615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:2c3b9d95-4bfb-4678-9068-3ca36927e48b phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:8196966a-9eb1-4e26-bc29-417bab110fa3 phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:5ef601b7-bb48-4f1e-a2c6-20880c9c955b phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:2c33a0df-68e0-4383-9d7e-fdeb61814696 phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:d31dedcc-cb4c-445a-be47-6d370cc560ff phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:6f7ad1d5-fbd6-4229-a6a9-bbdda49ee8c2 phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:219d4483-5141-425b-b31c-6335a458322d phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:5266f12c-ce02-4e1e-8b83-143e1c4f5fb6 phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36190515 uuid:cae92263-5a9e-45f4-93f6-e4409b3b984b phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36190515 uuid:4d2f81d8-aaa3-4432-bcee-e741af36a7e2 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:b2c57afe-af69-47f1-8ccb-05c25f79d656 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:dd2a944d-f8da-4733-94e1-31bfd58b2362 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0100247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:124634c4-b5f8-4eb2-937b-068d7ca877c1 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:8c9c04f1-195f-4513-85f9-376ba6d8ca96 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0032615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:82b114f6-66b3-43c6-83ef-612d56069c91 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:0265ffed-c658-424a-838c-5a3c5a506920 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:00feab14-199b-4899-8a0c-09fca35c6085 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:398821ec-e5b9-426f-8f6a-20549ace59bc phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:c1086574-fe38-4ecd-94be-e418cd6b4fa0 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:35685cc2-7af1-473c-a784-4a5c4ddf9f78 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:cc78a45f-151f-4692-8228-7a5ca210b416 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:52b535df-bbee-4aad-acc2-060c62102ae4 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:20424d65-c38d-4a36-8f15-755d1385579c phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:814962e6-4541-41ff-aa60-c84a90eb1ac7 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:36190515 uuid:ce2ddad3-6652-442b-b905-3fe628119682 phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36190515 uuid:f6d6b059-fc7a-48c2-84ac-275cf753f991 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:25e50b21-f2fc-41cc-bb64-b73cbf264d0d phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:c97be1a6-290b-40d1-b0a9-e9e1de8a8bfa phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0032615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:413d34ec-ad28-42dc-8b62-8e4aab2eda2a phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:132a5f50-7746-47a2-9c42-7308b16f2419 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:93a6b9b4-eb9f-49a6-b20f-b1e0000bdda7 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:88648520-35a0-45ae-9b6b-32bdb660c1f5 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0012708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:59400503-8179-4040-a712-ac5ad57cc4e5 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:2d195944-7275-4383-ab5d-0708b968f274 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:589ddbb6-40d8-4eb0-ab3a-b9c2098741f6 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:472a1a54-3692-44cd-a727-711893604c3b phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:9f4b489c-476e-462b-b38c-bfdeec7856bd phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:a1433dc3-e9c8-4e2d-8926-f04e5d434164 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:32fa517b-d578-411b-897c-2103d94fbe15 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36190515 uuid:c2490bec-d283-40ce-9f89-ef1733468d20 phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P4D infores:phenopacket-store PMID:36190515 uuid:dbbbc6ad-acd9-4db5-b2fb-e58701fda02c phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36190515 uuid:ccbf2c45-df56-4712-918e-1d12ed6276f5 phenopacket.store:GCSH.PMID__33890291_Proband_3 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID: 33890291 uuid:2a9c8eb7-5485-44f4-a094-b1961dbdda4e phenopacket.store:GCSH.PMID__33890291_Proband_3 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:b44e1555-c1d8-4def-89a7-35556c5c2fea phenopacket.store:GCSH.PMID__33890291_Proband_3 biolink:has_phenotype HP:0011577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID: 33890291 uuid:aa5d0fd5-8fce-4e3f-b570-cdd1567a606d phenopacket.store:GCSH.PMID__33890291_Proband_3 biolink:has_disease OMIM:620423 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID: 33890291 uuid:6787a838-667c-4549-8a11-fdd688537a2a phenopacket.store:GCSH.PMID__33890291_Proband_3 biolink:has_gene HGNC:4208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID: 33890291 uuid:b3574788-2247-411c-be55-4425e8b3dd36 phenopacket.store:GIPC3.PMID_21660509_DEM4197b biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:cdf48201-29e4-423e-a6c8-cf535ad00694 phenopacket.store:GIPC3.PMID_21660509_DEM4197b biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:cc169281-4769-4b45-a64c-d7bcb36d27ca phenopacket.store:GIPC3.PMID_21660509_DEM4197b biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:b4f878b3-2359-45ba-b78b-e08417c23213 phenopacket.store:GIPC3.PMID_21660509_DEM4197b biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:a01f4c28-ad73-4db5-976e-90edb0cfd03e phenopacket.store:GIPC3.PMID_21660509_DEM4197b biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:0cb1b3ed-9eba-4731-a315-5d2cef4bcbd9 phenopacket.store:GIPC3.PMID_21660509_PKDF1048b biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:24485f46-448e-4f5d-9961-7d1b58ef0b9f phenopacket.store:GIPC3.PMID_21660509_PKDF1048b biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:2472a2ca-7e02-4003-8374-c93b15ac35ac phenopacket.store:GIPC3.PMID_21660509_PKDF1048b biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:b1c8ee9c-3869-4984-a3b4-0d83b5beafa8 phenopacket.store:GIPC3.PMID_21660509_PKDF1048b biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:f612e410-aa6a-4093-8fde-f75b0d61b19d phenopacket.store:GIPC3.PMID_21660509_PKDF1048b biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:ebaced8c-d067-4c8a-a267-c914f181f2ff phenopacket.store:GIPC3.PMID_29605370_Ahv_14 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29605370 uuid:ea3bea23-b580-45a0-9b06-edbf903c803d phenopacket.store:GIPC3.PMID_29605370_Ahv_14 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29605370 uuid:7bb44798-e145-4678-ba44-49c560c09f31 phenopacket.store:GIPC3.PMID_29605370_Ahv_14 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29605370 uuid:6384abe7-725d-4731-8139-cd94dc02de84 phenopacket.store:GIPC3.PMID_29605370_Ahv_14 biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29605370 uuid:f696545e-4879-4252-8dd3-712d53aca72a phenopacket.store:GIPC3.PMID_29605370_Ahv_14 biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29605370 uuid:fa6d1e84-c61b-4ea7-97b3-8b5413fdb21f phenopacket.store:GIPC3.PMID_21660509_DEM4322b biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:3cb4f88d-b952-4569-9ee8-2245f2979581 phenopacket.store:GIPC3.PMID_21660509_DEM4322b biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:38a36cac-68e8-4777-9e21-f5bdac1fec34 phenopacket.store:GIPC3.PMID_21660509_DEM4322b biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:bdb73189-ccdd-4c79-8ad2-842c93841cc4 phenopacket.store:GIPC3.PMID_21660509_DEM4322b biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:cdca23dc-9838-42b7-b81e-36d57249f450 phenopacket.store:GIPC3.PMID_21660509_DEM4322b biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:3c7ae633-fc67-4673-8c0f-42dc3b72ac10 phenopacket.store:GIPC3.PMID_21660509_PKDF1258b biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:90c17149-2753-449b-8689-f37ae6a10dfc phenopacket.store:GIPC3.PMID_21660509_PKDF1258b biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:dd34eca4-bb20-47cd-b827-a83bcf4a9909 phenopacket.store:GIPC3.PMID_21660509_PKDF1258b biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:51a2a9c0-49d9-4d93-817b-197e18f54464 phenopacket.store:GIPC3.PMID_21660509_PKDF1258b biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:205a249d-3305-48bc-b701-aba0a8a86684 phenopacket.store:GIPC3.PMID_21660509_PKDF1258b biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:de9f211b-1f73-4330-be71-efef43f2d546 phenopacket.store:GIPC3.PMID_21660509_PKSR22Ab biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:a1803551-96d1-445c-853a-0036495a195a phenopacket.store:GIPC3.PMID_21660509_PKSR22Ab biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:6b359411-f89d-4a37-96dc-fc90ae34b0be phenopacket.store:GIPC3.PMID_21660509_PKSR22Ab biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:39198cdd-0e5b-462a-9d70-4c4b3c90b8f5 phenopacket.store:GIPC3.PMID_21660509_PKSR22Ab biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:1f5783c8-a25f-42ec-ba41-a636ea7550d5 phenopacket.store:GIPC3.PMID_21660509_PKSR22Ab biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:96ab55bc-c6d9-4127-8bd4-1cce278e0cee phenopacket.store:GIPC3.PMID_21660509_Indian_familye biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:e0c529b7-6a6e-4c7a-ad79-274d296c0a06 phenopacket.store:GIPC3.PMID_21660509_Indian_familye biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:8b3869ef-6bf1-4b0d-8b20-681ebc4f03d6 phenopacket.store:GIPC3.PMID_21660509_Indian_familye biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:9c77547a-9128-43e0-9501-878c457320f8 phenopacket.store:GIPC3.PMID_21660509_Indian_familye biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:516e79af-8653-497f-b178-42329f821b28 phenopacket.store:GIPC3.PMID_21660509_Indian_familye biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:6e791c84-cb40-4e8f-afc1-0e4cce1a9d29 phenopacket.store:GIPC3.PMID_21660509_W98_042e biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:f2eca57f-fbf3-45e3-bd6a-8c6dcc80df02 phenopacket.store:GIPC3.PMID_21660509_W98_042e biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:8f8045cd-4195-4371-8ccf-2302af1ff8b1 phenopacket.store:GIPC3.PMID_21660509_W98_042e biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:8295560b-390a-4a6a-a37b-dbc050dd4cb9 phenopacket.store:GIPC3.PMID_21660509_W98_042e biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:fb843618-46b7-483c-adb3-4a6877273422 phenopacket.store:GIPC3.PMID_21660509_W98_042e biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:f156592d-7359-4cf0-a025-b6e57770c2ee phenopacket.store:GIPC3.PMID_21660509_PKDF793d biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:ecd6e9cc-e620-4ce9-a2cc-9cb55497a60e phenopacket.store:GIPC3.PMID_21660509_PKDF793d biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:00a4d500-dfb2-4aa9-a867-0e4e2ad7fb87 phenopacket.store:GIPC3.PMID_21660509_PKDF793d biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:a30e0d5e-14f1-4b22-b575-64d0ab1899c3 phenopacket.store:GIPC3.PMID_21660509_PKDF793d biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:8b836da2-c1ac-4c61-933d-bf7893c8b075 phenopacket.store:GIPC3.PMID_21660509_PKDF793d biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:324b08a9-60cb-4b0a-ad2e-fba9ca807094 phenopacket.store:GIPC3.PMID_21660509_PKDF335d biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21660509 uuid:dd964147-05be-4fb0-94a2-2f13af1ac819 phenopacket.store:GIPC3.PMID_21660509_PKDF335d biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:09bfc73e-c653-4294-a28b-faa6f19df69d phenopacket.store:GIPC3.PMID_21660509_PKDF335d biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21660509 uuid:493ce2d5-127f-4dcc-a928-8fe7f7b518c5 phenopacket.store:GIPC3.PMID_21660509_PKDF335d biolink:has_disease OMIM:601869 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:232a6acd-5142-45fb-b354-e5a9b041cf01 phenopacket.store:GIPC3.PMID_21660509_PKDF335d biolink:has_gene HGNC:18183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21660509 uuid:be4f9155-4035-469d-87a5-35c07a8368dc phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0008166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:003eceda-dbad-4deb-8c7f-6178978aaa9a phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0010729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:f9c3bb4f-bd59-431b-9588-34bdd6928622 phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:4af353a5-849f-4def-97c4-6472aee72a61 phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:b8adf4a3-287c-48ff-a14d-893eff5104f8 phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:172f654d-8c55-421f-9771-b4d862b7a31b phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1907800 uuid:b550cc4a-ad4a-43f2-880a-602a456acf1d phenopacket.store:GLB1.PMID_1907800_KT biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1907800 uuid:c20da41a-1c56-4bcd-a29a-f9635838a469 phenopacket.store:GLB1.PMID_1907800_KT biolink:has_disease OMIM:230650 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:1907800 uuid:f701d0d0-333d-4f95-aed0-bd178a2c1f82 phenopacket.store:GLB1.PMID_1907800_KT biolink:has_gene HGNC:4298 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:1907800 uuid:81facd38-c28a-4c47-82d8-f18d104e21e8 phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0008166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:44e02d20-4f3d-440f-810f-142b662b2e2b phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0010729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:79909424-6e7f-463b-8f3f-13a3d89242fe phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:1ba6abe9-02ba-4a06-ab86-ece2d75d15af phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:a27b66a7-eb6f-4de0-ad99-b8a0b992b186 phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:1907800 uuid:bc169544-aa2e-4116-9e53-f9e6781157fa phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1907800 uuid:324d6bb1-97f0-477e-a29a-fd222da6d61f phenopacket.store:GLB1.PMID_1907800_TS biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1907800 uuid:bc7ee07d-8320-47a5-81c5-096205fdc2c3 phenopacket.store:GLB1.PMID_1907800_TS biolink:has_disease OMIM:230650 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:1907800 uuid:b12919d8-6223-4592-bdb6-3090619a0f2d phenopacket.store:GLB1.PMID_1907800_TS biolink:has_gene HGNC:4298 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:1907800 uuid:b8d1c9a3-3ec0-4673-b6c3-98b3e7c8b7a8 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e637bd06-2ec2-4f81-94bc-d0272207aa4a phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b0778323-f0c0-43e3-b17d-5702a380120d phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:df54e011-8a1f-4cba-b712-9f149b3a03ac phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1568cbc3-6fc0-47ad-b791-9e252cc34293 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c0438c78-000a-4486-b4b7-bf4214decc14 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:16d45e4d-89ba-460a-be1d-0f6529e96866 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:73dfbc80-b602-4d74-a9ed-10a1b4f645e4 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:789dc395-9392-45b7-92f7-47e84c7fead0 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:798d0951-a69e-4df0-97bf-51d736beb2cb phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6962ef8a-dce0-4114-abb3-107504bd497f phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ad4f90b7-16eb-466e-8212-78c9eeebbaf8 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e699de26-34f2-4d34-aa32-c5ee540afa27 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1a5fd68f-4d54-4ae7-80ef-1acf9d45147d phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5cd57a4a-b06a-4294-8549-e35e2870ae4a phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b27c700f-1265-4b34-9021-bb074a4f7077 phenopacket.store:GLI3.PMID_24736735_G016_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:910d1595-7e13-4597-a054-7c2e6a865fb4 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:adb6a2e5-4e0f-4f18-8afb-5f1d1172aff7 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a1dd084e-8855-4aae-9573-678e5f7a9ee5 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:dd201444-28ea-411e-9241-87a717a4b437 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fd0a357b-248a-404e-95f7-c90930a4b160 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a13af1b1-8871-4b40-92b8-780e43c52cd7 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4d1f335f-a1c7-4bed-a505-a893165a2606 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0491bf4b-5f95-476a-8b60-c4dfa37bc137 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:01c22d68-6c23-47ee-9c0b-b0e241d1be5f phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:23ceb700-9e09-4cc6-bccb-ede750e8dd26 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3f8a5321-9d7d-4e3c-b5ca-7c7c01f0ab6f phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c27a3e59-482b-474b-870f-e665c81401b3 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:314df69f-6921-4c8f-862a-8722bedfcf97 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18000979 uuid:9098477f-2bcb-42b7-a74f-58c7893d9832 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:d7f92e91-2444-4c0a-809e-99deb5eef3d6 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:d0033381-2720-484d-99be-8b7d4256004a phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:726f27ad-ece7-4846-8593-4190cfc81ae9 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:ffb86219-2aa9-4ae6-aecb-d1aa0742261c phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:7acc824a-7651-4ed2-93b5-fb44fa4e09e5 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:97b5058c-2386-41c9-9c1d-f64270f8847b phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:96d19c6b-c2e9-486e-81cd-3f396b570aba phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:edcc8436-3901-410f-928f-53df1e3334f3 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:d1d83efd-f674-4c62-a2ba-43d14a8be0ef phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:caa432ce-e227-486b-9e2f-1fb3b8001381 phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:1a037a97-8c0f-4497-8dc2-9312a071baac phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:462dcdb8-1af0-4df7-a31b-2424e0a1c66c phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:29cbb738-f867-4672-a5ae-6bf80823a62c phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:900fd70b-c258-4682-8ab9-7475d8a23688 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b4056293-bbf8-424d-b0c9-ddd2e7494c3d phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:82b6e0fe-aefa-4e6c-8d08-c89997a5a6ae phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f97cd9e1-e1e4-447f-bf5c-445c7e30dec5 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2b6f3d1f-8310-42da-8fab-546b0f2480b6 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f6be76cb-6c08-41f8-a50e-7857e81a24a3 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0a9f62ea-ef96-4697-8e19-0ce34d79ffe0 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:45b085cc-eb99-4229-9ec1-c4cca8e056a1 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:33674d0e-bd46-464e-9fa5-7c7889f8ef36 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:56c62d64-1310-4e36-a227-9892dcb6a36e phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b0a6a09d-7716-493c-8a05-5ce284ee8c32 phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b8708087-0245-4c85-a70b-2bc05015a3af phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:1feaf7f3-6152-4271-967a-7730029756ea phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:10caf69f-7f04-4936-a5a2-2071edd5410e phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:056b762f-e272-425b-8f2c-96c2d5b20f1e phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f814860b-c90c-4c8c-b91a-23dc44494e2a phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f2c0809b-8b56-4d0b-a730-487d0753654d phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e094f8f9-397a-4987-ae18-1646150a5820 phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:57d175e0-585c-4b11-8a5c-3bf5fdef28fb phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:49de0513-cd32-4816-9c68-fde758cbd34c phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e8a71342-370c-4b19-af37-ea6dc3cef358 phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1c5a2e30-6021-4fcc-bb23-78d23102398d phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:facda0c7-818b-48a6-82f9-1a6aab69f615 phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f8d31e51-ef4c-4fb3-a31e-8fb19e2a0562 phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:cafb5920-078d-4008-8338-7c5ebad1ab5c phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:517d0262-c993-41bb-ad7e-ce454c1ed0d8 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6308db8f-f529-4ff7-bd6b-991a9f5398a4 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5b345c02-8442-421b-b25b-eb9029274238 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8f5abf0b-1f76-4ef6-a65d-ede8712b5a75 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:53464003-e02c-4f7e-9e5b-4567ba107c0a phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:004a3214-bb3f-42b6-9213-81673d3fdc01 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3fa9ecd0-f1dd-49bc-afd7-09fcee744ef4 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e9a558ee-8b84-4882-ab09-ea787a4a19a6 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6f9c1db6-f410-4370-a758-f2b21aec6c33 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c69d9328-3538-455f-870d-0bb4e4dc0998 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4a2f3b2c-cd49-48e7-bd87-07a6a2c847aa phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:781a8da7-1d04-47a0-aedf-03636d780e91 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:017b429b-a75c-4942-812f-1c134d95e868 phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:8bcc3369-64bc-4552-95cb-d25504534d53 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:351b7ced-cc72-4f57-a3ec-abbf7f11ba15 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:bd6d0ecb-ecad-49ed-b183-7fe28b6787cc phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:33a59561-97e4-40f7-a1b4-b1a367e38e43 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:fb0d43b1-05f3-43b8-a1f2-c9eccabf20eb phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:7277b1bb-4405-4201-ace2-522d903b958d phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:26c1c6dd-0796-436a-8546-0456097737cc phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:300603d0-6072-48a1-b84b-367ddd426264 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:12dd050d-db2c-4d22-bf38-869e13286e10 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:495c3ae5-9238-49c8-b2f4-bf986b59e99e phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:3265285a-f00b-41a5-a217-d1cc599883cb phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:5749b0a3-5d6f-4662-8bef-fec38e517053 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:0dd9fb11-ef1d-4220-8cbd-74339bb751ad phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:31f11f4a-7288-4af5-9ade-4e85c1416b8c phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:89084ab6-b7a6-4752-a63b-edf8ba57f433 phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:83b05403-eb68-4bb8-aafc-7280cf15e54e phenopacket.store:GLI3.PMID_22428873_P4 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:4766b095-fe84-4fa1-9b4d-0572b782558f phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:63da2866-824c-4cd9-8566-438910b4f648 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c16edd1e-2065-494d-b8a2-21ef0b751e12 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8b8eb937-997c-40d8-8182-4600f2e1ff82 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:54389ee6-4c12-4387-8b04-da696d79f3e5 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:77b9dd31-87f4-4e2d-904d-bc9cecd36bea phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b002a076-f5fc-4102-9f4b-dcd122bb13ad phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fed81cdd-1a70-4fce-8052-06e61c444f29 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2d363a33-4b7f-411a-905b-0fbd554baaae phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9719025e-3937-471d-bf26-a7d7b89eedba phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:244c8651-a094-4659-a0db-75418a982cf3 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a28509a6-a1cb-4289-b473-733c3e1511a9 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:04ed4288-c58e-456f-84bc-ac485a4d3287 phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:9828e3bb-f45c-45ef-8ac1-01312fcc7618 phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:7482debb-5985-4440-8393-3c10b063de0a phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:94b26fc0-8aca-4d42-a390-344ce939322c phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:18eb2eaa-b7c2-417a-a245-7d9281366e91 phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:14d53d51-ed13-4c97-ad13-2ab79913313a phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9cae75e4-b786-4761-b4f4-ec1ad7a85955 phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:264f581f-ffdd-4c07-af05-c3309e023ebd phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d98a6283-b4cd-4e5a-84ba-5cb1da6bccb3 phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:576d471f-565f-4496-88b1-1c3c9eb34adf phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f5828565-cd1d-4258-91ef-bf9182204470 phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:efbd697d-aecb-4013-abe5-c19a2cb5a9fc phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:cf50c301-325e-474a-a6bf-de7320ec41d9 phenopacket.store:GLI3.PMID_24736735_G040_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b1092205-38b1-4e2a-84c0-af41f37ed811 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:38872261-b37b-41f0-af41-b7b16405c0a0 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3eda60db-1923-4191-8ac4-dbafd7040610 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:398c956e-4182-4ac6-a4ce-924b0d1bd8ad phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:2e0ccdfc-ae00-4837-9de9-c2275a23070c phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d43424d2-4517-400c-a4a9-e46a5a69e2be phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a6f84b58-929e-4262-95f8-bcbdcbc4a7d0 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5d44b25d-e7de-422c-aab4-9813d5a1175e phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0d52e365-4e0a-4749-a7ce-31f135d500c7 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:55439d55-712c-4c3e-8991-2a0349106732 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e7805c2f-3305-4f13-a5c0-e7485ee52146 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b5480cee-369f-4ba3-ad62-041a0ab0c5a3 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:692ef280-3347-4fff-a4e7-0f89bead16fb phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ac2571d8-c5c2-40cb-ad8f-8defaa59483c phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:85986e5e-cc57-43a9-9082-4d97dcb43edd phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:e5082a0f-f69f-4cc8-b69f-1229f48a92da phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:a98bf112-1d2c-44a7-bbf4-a5eb89063ff0 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:80367854-62f5-4b31-82df-04bed6239f7d phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:68dc4c2c-b6e3-4c1f-9dad-943a7f1ba8f2 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:e05994d5-2cf7-417a-bae8-ca9eed21ca7d phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:232b2f1f-2bdf-42ab-a5da-010cbd745b95 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:427df429-4e82-4c42-95a4-f544042740f7 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:cbfe4fac-6af3-4320-b77b-9b627a1084cf phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:54e43691-977f-4c10-aaa2-c15338417150 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:2fd2bc81-0c61-478f-8f80-3ede72265280 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:7a7cdfdc-f217-45b7-bd43-d2d336c910ec phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:c36a559d-28a0-4ae6-afd1-282b2096f891 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:0de72189-6d9f-42bb-b95e-3954710f93a4 phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:28f9142b-79f2-4021-844a-a4aaac95195f phenopacket.store:GLI3.PMID_22428873_P3 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:45133a01-5e95-4391-a300-f71837fe115f phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f8f8b1cf-19c1-49d9-951a-cf5d15bb0eb8 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:03d048fd-f025-4374-bbcc-36c10d3f4675 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:38d3e72b-9a03-4b45-94f3-822005092ac4 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:45d72c88-21ab-43ee-be63-eb19eadad8e0 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d3611880-1e85-4176-b606-1c85266450dd phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2b7a38f8-731c-426c-97cc-ed5721e97d96 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bf90d462-58f4-4418-9305-dcaa447fabe0 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:06cfdf8b-0cf8-4d1c-8dd5-d8fdaef27f2d phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ca13f37d-4b22-45e4-8f0b-7b2b10f812c7 phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:8d3f4b7e-bcea-48fb-a51b-43fdbd3cb28c phenopacket.store:GLI3.PMID_24736735_G048_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3cbb7d17-adc8-4ef7-84f8-1a859ffc1db4 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5d1df60d-2332-48b9-9ecd-f6f48775df08 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4b6230dd-955f-4b12-8792-509356e3434c phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cd30f8b9-d3fe-4a7e-bc9e-58c0c86c77f0 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:11a1cc3c-29c6-443f-8d70-72f2471aaba6 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5ecc1628-499e-4966-adbc-b390c374290c phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:941e32b5-c0bf-4218-aedf-35851c67e849 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5966db92-2624-4039-a488-1b1af0f22cbe phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:909f27c7-d14a-48ef-9702-f7b416687fb4 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a428d2ca-9f27-4c9d-a7ec-f239c12a5a5c phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:79ff2c4c-525d-430c-afba-75437e793aff phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a091faef-4c77-44d1-8d16-44d7e5fad67d phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:0f57358a-c64e-4183-a586-7250513489d0 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:057d3c0f-b9ae-4ec9-a230-b9083cb99596 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:60a86d0c-ba0f-4d52-ae06-84ad17ffbdbf phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:2bd1f0c1-58cf-4c7a-904c-0afd1b6cd6ac phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:420f98cc-2899-4fea-9540-fb28a203baef phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:16903378-8710-4110-b3c9-9421956d14f7 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6695d227-cb4d-495d-8be0-cbc0b782c977 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b18b0c52-2b39-4376-a537-e3bc473cb46b phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5d991310-e7ba-4aeb-a543-e1fd0f5cd184 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8e12ded8-9d91-4227-a38a-6bd64af82a83 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:797704f8-6698-492d-a664-9a6f6b3129f2 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0f27e416-0907-473b-b64a-f7b6ca207485 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a5970aa9-68da-4af7-a659-6a808c992ecf phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:47cca09f-74fe-41fd-b51b-5b4e8e4557b0 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:477fe782-46f9-4f55-ae6c-9efcd4ad0120 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:394b07ff-1787-4972-b572-8dff36f1b6b7 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f028852b-f8c5-4ce2-b3d3-6f7ca69df0ae phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:95ea5e46-5ed9-4f62-bdfd-b1f7ab40d658 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4dea7182-9621-4123-b268-b9569369bd20 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f6dff9e2-e0da-4bc2-ad17-82a1cd87ea4c phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:704b125c-bcff-4e39-b1e1-9e1af6583227 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4dacdcb3-1a28-454d-ac64-cd68541d260e phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:53f2a146-5fa7-481b-9998-9aeb75054793 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bdfe457a-dd62-4cef-bb3e-cff9e5f5fcbd phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:67662bb3-8691-4f39-a3a3-0489e273c8e4 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:25c56505-9dcd-4b84-b945-d0d2305331d3 phenopacket.store:GLI3.PMID_24736735_G094_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ac40b5a8-febc-49b6-be38-76f33508fd62 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:2d4d4ed7-b2f6-475d-ac8a-b8af6e41f120 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:82ddb048-9d4a-4633-ae1c-01933b5cbd8d phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:040d5de3-2cac-4f0b-bde9-8e2c23a9fcf5 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ac4aec5b-a50e-4d4b-abf9-31f8e525ed02 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cc32c643-ec9e-45dc-93fb-259816782376 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a53eeee8-1962-4a3c-b063-26d9c7371aaf phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:df955deb-7d70-405f-8da2-fc4f2677b1bb phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:eafb63fd-1314-4219-871d-f07ac95d59d1 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:01f5785e-4ccd-4705-b643-e6984b5cf036 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:78be066d-017e-43e8-a780-c9bda88dac98 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4439ce52-a1b2-4733-a51e-0e18301a415d phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:534fc2b8-a08f-4c2f-9237-7ed15684f949 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3255966f-9c3b-4b39-9486-948ad7e3ecfe phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1ad33bfa-626b-4db7-b5c6-821bb67cd2c4 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:92a5df82-10ba-408a-866b-57ac6f5a8740 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a733cf3e-0b23-488b-bd45-34a2a7165703 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6287c4bf-0f58-4385-8837-0eae04a2c46f phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:01f2d6c3-7561-4a17-a419-8710c6a6ef77 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5f3d5de7-f97c-413f-8877-09677f642f12 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e1568299-e723-406c-afc8-79acd57ae8d0 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a545fe01-a34e-41d8-80ea-bb96c301d9cd phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:177fb735-4a37-4988-8225-f91bd69eab93 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3c008d45-9cc3-47bf-a162-fe5b9a1950ac phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b4650d3d-57b6-45ed-a86f-45e9f73a8815 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3136ec3f-9c54-420d-b61d-dc794a261edc phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:043b1d0b-57d4-4702-8619-426c45f4947b phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:37742268-2d2c-4557-80e4-2f7aab8bd34d phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9923d813-6668-42fa-a524-deb03991cb32 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fcd54ce3-7b9e-48a1-96c1-eabb1e4996c8 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b219d05d-5214-4b1d-adc6-3d2cc4fa8985 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:6cbddf25-4f51-4533-9e23-53e6f8f57323 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:06469110-5d9e-41b2-a0eb-c5c5f25a4d44 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:04849acd-83b6-479e-b41c-be68b77facee phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b2d3a8fd-3b6e-43df-9cb4-3a0cde283780 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2db13fc2-21ee-486e-8934-c5016dc23a87 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e96644b9-8342-496e-a8a1-1390ee643812 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a65343ba-c1ce-4a29-8a4f-407d2b52ef89 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7fc442d4-36a2-4f8f-be93-9c8cf09c83ec phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c618c562-a894-4fe6-8221-e9109fb3718e phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b37b8c17-43f3-4123-88c5-d0562aeb2548 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fe9dc15c-ffe4-4365-b6da-479a4a44caef phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1f21059e-871e-4f08-b8e0-cf04a8b09c18 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:2a8609a4-c02d-4dfc-afb9-786defff1153 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a0310ea3-f50c-4a9c-ad85-8dad566ff3cb phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18000979 uuid:9d4d7f69-2a46-4156-a698-94ed691ca4e2 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:ce4d7abd-08b6-4cdf-913b-5e0ae3453d6a phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:c77957be-de30-45e5-9431-96cca258bf4b phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:a8bd1c29-4a03-4bad-b99c-ab6175467eb6 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:70a29287-442f-4a16-b015-1b750e2af7bf phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:bc714a2c-3ce8-4a56-915e-600f8e97cbd8 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:b3824e44-c0c4-4e21-b7fe-cceb1544c2b9 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:a5843d5b-6e85-45ef-9c74-bd45375af18a phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:3797da38-6712-49dd-af44-8d3591f20b78 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:c4affb98-d217-4bcb-8dd6-ce66a9da27c4 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:90977694-8fc4-40cd-bda2-271398571173 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:7357908b-254b-464c-a046-a5a080dc5dbd phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:957f0895-5584-448d-aab6-f96a726807c4 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:ffba15c1-4785-4cbb-be46-e00becef12ea phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:cc374880-6562-40f9-9da4-ebdc4447897a phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f9f63d3f-1059-4777-a8c0-c62844cea1a4 phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8f8d2266-9b98-4c2d-8b1a-211afb6c14fc phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d61e867d-91eb-4c38-94fc-f5a6f5d92a0d phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d60df60c-07d7-4e52-b4c5-148eb302e1ee phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:71643a18-ee7e-4584-8c92-af2230bea933 phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8f96ac0a-5193-42fc-83f2-aa387b2aec51 phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:81a8e770-3013-4733-95a4-7754a0bc1945 phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c0ede81e-ead6-45ba-b60c-1a73f82d6ab3 phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a9a0dafd-c061-4685-bf9f-79fe06e5325d phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:86c7db4a-457d-4c7b-a5fe-6be92c7986a6 phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:143f1425-6025-471d-9ebe-bf1489fd74fc phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:03657f6a-83cc-451f-a752-73feb2f54ebb phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3e6aa0cd-e187-4e39-b9eb-8cd154c00036 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:82e2b432-4427-4aae-a603-e062c54b713c phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ba700bfb-eae7-4b71-83b1-a5f16e8fc337 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:70c2fdd8-7d4c-44e4-ab2c-55bdc2a0b022 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e91cf930-1dc7-4523-bd4c-46d84a139817 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3276e7fa-bad2-4947-b2e8-4ed4455ac1f7 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:2b04f385-6748-41aa-82e1-07c2fdb924dd phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:34c983fb-a274-4539-af98-a22fea2c52b0 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:93dbed13-a846-4190-9622-79c95f513d00 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:66faa88e-309b-4151-bd1d-118ae7551a8a phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5f31cd2f-b72c-401f-9460-eb53c1604a6e phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:89d80c0b-abc6-402e-9e69-29fcf6f4a631 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:798c2c93-54ad-4658-845d-b6dcadb75727 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:560abcdc-0466-4627-8ac6-6277e34d6b3f phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ed6c6f4e-941a-4a79-b974-60e7687dfba4 phenopacket.store:GLI3.PMID_24736735_G002_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:976f9ad8-89af-4cf5-a540-800ee35e13fc phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9b7ac933-89dd-4087-85df-edec5047e10f phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:81d6c5bd-e11b-472a-bf49-de6c1be9f501 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:12fa0f9f-f59e-47c9-8eff-0509223c7809 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4b8ff4b0-4317-489b-9380-91f3ef638add phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:246b7977-55ec-458a-b59a-d5e5b1fd849c phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e1b4a908-9338-424b-a6d6-1837a84ad99e phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1ffac7a4-df7f-462a-b9f7-f0e50ccec3a7 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d4f2529a-2a6b-4654-8877-11edc77e86b8 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:79bfcf3d-4b26-48b4-8a85-f36bc07a9be5 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a0343d88-0bbd-4a0d-8659-90bc02d63c49 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:d5aad68c-28ce-494e-993a-768147efb14e phenopacket.store:GLI3.PMID_24736735_G001_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:29dcca12-87b1-4a71-bdd5-df52666c3792 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b5e3e198-ca4d-4168-b61f-749f41ffc754 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a96def7c-febf-4e58-9d7a-9d64ea3a2227 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:066d9883-335d-43b3-b10e-1cc2702250db phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ff804438-c41a-4489-ad50-b2a36650a2de phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e98e0ce4-4ade-4a28-8e42-021139fa335e phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d1682a98-1601-4296-bbc3-e8bd6493ec8e phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2cb21ddf-1a31-4cfc-b19a-846c7bf8437f phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cc77cbe6-973b-4c87-8836-3b9642bede57 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:36aa20ef-6c3b-4a12-aa33-74ab51af1f04 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ded5234b-7dca-49f9-b003-475e711360af phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:29949300-f2e0-420a-9182-6cc841437531 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:43b2deb2-c13d-4440-b27a-7bf179ebbf26 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:de8f4aae-4a43-401f-8f68-f4137eb802c6 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6e498250-978f-4a14-99db-7cbd74524af3 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d0b9c0d4-1b17-4ed9-bea3-ea5deb3f15d0 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b03a4565-2411-4d5f-9825-893b043d09ee phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5df238fb-acc8-4517-b238-5cc82b7fa1ae phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:03b46c06-5a36-4c49-b0ba-e4c0ca911a93 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:008785d8-1c0d-4556-aa0a-a99861263167 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3c5c7e4e-9c7b-47c2-b4ec-e62bd8880016 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:45ecc9a5-f234-40b6-abfc-8ff9d8db5362 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1da70fb7-1c25-4376-9193-c54a50996f7c phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bf9df677-8175-4a7c-abc7-1116916f0a84 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7a6ad66e-68d9-4eb0-a5d6-d6f1ae813416 phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b6255f84-307c-414e-a6a8-3a332005ad8d phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:10af0bc5-5f39-412c-b816-4b6995906507 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3732245c-4060-479b-97d5-e9b8c94b60b3 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:23e8b9b5-565f-4007-8685-8046fdd3be0f phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b7244740-8883-41f0-b8a5-01d66aa6474b phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b00c9119-cc4e-4579-939e-dd1bb345ebb6 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:dfb2acbb-8fc3-4f6b-b813-f682edd5b3f1 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e8140741-24bb-4096-a6b2-2aa470e9d7fb phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:db8383ac-956d-4269-8be4-1d882ea0974f phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:38e8c9c0-5051-4da4-94ee-da81ae93a9a7 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c8cedc30-1e5d-4453-b9af-9240506a4b5a phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fde4acf5-4c98-4481-9135-b4064dfb9b1b phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:969649ef-408c-4e45-8229-449f7c9e1c51 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:57f1c62a-66b0-407c-bd96-6d4a306e305a phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d80c06e4-e652-48ef-8d70-2518ca1ffb5c phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7bfd031b-c05f-424e-9cde-8fb668b29870 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:1cdac85c-3e31-4860-ae7b-09680e0d4be8 phenopacket.store:GLI3.PMID_24736735_G051_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:e0118e75-788f-4eb4-ac89-2d035eb6e809 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1bba89fe-4d42-4a0d-b35b-fe13eefa8a0f phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3d622549-c0f3-4e18-b4dd-9f0d5a7e7021 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:bb1f75a0-0330-471e-8ce5-1d8973ddeeb7 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5fdc153b-7528-4beb-9a54-f6f28f102c17 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f0d30d3c-cda1-46fa-80f1-8e4a5685691b phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5be216b3-c254-4a82-9067-3b4732a4811e phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:54799d7d-e9ea-4e9b-a742-bced0c0417ef phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:03fe64bf-714c-4961-8d42-c2f9e773946b phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b0c7bbd7-9ca7-45c3-ae64-a7a56c307a07 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9fa1ad37-07ed-402b-bd5e-873ff4feb328 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:07d8b917-be8c-49d2-a4aa-a77adf073394 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d7be5402-fa54-4dc5-b787-0f5365ede381 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:130c46cf-607c-4d44-97e5-febccc80d606 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:705a1f19-e00a-4d32-a975-22d1d89a7965 phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3ecdd812-5977-4abb-acdd-9d5c83b1ff05 phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c45a82b8-07c1-42c7-8802-822f1d9f15cf phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:cda03a77-09b9-441d-9b5b-ad56d47463af phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9bb3a91a-1a3f-4a89-bbef-261dd673c7cc phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:297f0a26-39be-4723-817e-75378e47821b phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d3d5b99b-080b-4362-be61-7cd514eec87a phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:01208453-f20f-4948-af54-a8cc28fa223c phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:11fdba3e-493d-4c88-994e-5912b4bc85fa phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8364307e-e30a-4506-b14d-b4bf78309842 phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f4598ac6-99d5-40e9-bc9f-b94465a0585d phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3f8d28ab-2b77-4fa4-a33b-0515911d2edf phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a855df84-0ae4-42a1-a499-72dc5eb32550 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c78e8c5d-4fce-45c4-8f19-d0c82af8a39b phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1b0d80e9-616d-404a-a067-03c0d1f7bc2a phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:92fe38f5-ccc8-418c-a537-eb3d3c19c7b7 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:640ad2de-6996-4b66-b8ef-6d3f2d177a32 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6efa4801-521d-4d22-b146-bc3a9215c200 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2fcfa10e-1a9d-4521-8b1a-4c31e8d19d9a phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:60c6997b-22e8-4980-9ce0-99dae82c121d phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b667445b-634f-4caf-a2a6-d75f21681e22 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:765eb3c2-a2db-4422-945d-3e58ed1ae635 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b6af8749-87d8-4381-9ef1-4b45827d7cd3 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ad126b37-ff26-4499-b5d0-a22ffa08e6aa phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0a456f87-80c2-4111-9245-0195f3ba48b2 phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:18cfa001-2d9b-44de-9384-625060e51d0f phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:105e4302-2890-4606-bb01-0b970eab40ae phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c65912cc-c046-449f-af69-d8daf8bfe92e phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9d5213f8-1baa-4594-8157-a15c56c64e61 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:0a839846-37ca-4f96-b75d-d36411e91478 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5d44a044-2296-4026-b39f-6e0e214d8284 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a8f0dd61-6c74-45a0-b04c-044fdeff54b5 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d8771eac-fe4d-4083-a48d-4b04175c2f18 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:bf2de14a-4f7a-4c5a-983f-b12e9006d4f8 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:359a3dd6-1ee0-4fa1-8038-62cf46c52bbd phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3ba312b1-db36-42dc-a0ab-6d6157d50096 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:05b204c8-742c-4088-9951-c05e7a69f387 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cd8e7d0b-2e88-43ba-8ac3-d621fe7f6e8f phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:fd1211f4-4df2-4c0d-8711-be141091149a phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:8cfe45b7-2e4a-4ad7-9dbc-a99c0a2dd4ef phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4534a481-3d36-4846-8640-28b3260746a0 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6b644410-3c95-4827-8eba-861b2b93baca phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b9996d32-2179-48cf-8ad7-814d6f62dacb phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:98a57ba9-1a67-4328-9f6a-f9b844e0f8d0 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4d91b86b-a409-40e4-886d-21fcadc09296 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:fb4d0147-c83c-4c54-89f7-38a582dc9743 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:7d7873ad-b155-4c71-bd68-b5b634a8ba7f phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:709b5012-a730-41db-84f2-b1d903600937 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d51b9e30-4c17-4e18-b0c0-af51797e5f76 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9d8097e7-9231-4e6e-8c43-7422aab8f82e phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:64937458-f8c4-4810-bb44-19e6d810b8b7 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:be59811d-4e90-4b61-b9e6-d5e6df68129b phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:38dfea48-0122-4a65-a864-9760b404fac6 phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:5f2c3f73-3587-4040-b563-b9634113cff9 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:318cfa46-c431-42f8-a0b8-fcb36d821b84 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:aacf899f-df49-4e77-9467-f92f49672671 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:8ce2fdc9-6a86-4c9c-88db-4fbebcfe6eb5 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:4bda68cf-494c-4d25-94c8-c535892d913c phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:615d53c2-5cfd-436b-b4ad-59630603f808 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:17a79cef-3d2d-4e3c-9caf-6a245ee00884 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:e55eec85-9948-401e-973b-c319b4637624 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:4bc0deab-1200-461e-ac6e-c09f41126f12 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:2c007053-9e58-45f0-bcd3-6abdacd415a3 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:d53460cf-0816-447e-b8a5-973aa342c68e phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:fe971e6e-2dcd-4e51-b091-86390c873485 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:db559a5a-f01a-460b-b0aa-068d67cc16e4 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:534d8ade-2d84-4625-a08c-e3f0b4366d73 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:62411d4f-475a-4063-af9b-3f43e1513f7b phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:a364d105-a28a-4061-a6b9-99ad77405339 phenopacket.store:GLI3.PMID_22428873_P6 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:4443793b-0ec5-4f9c-80c2-ff2b30deb7c5 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:fd03a3c6-3947-4f03-bf45-8a1c15feeed8 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3a9baa24-d1d6-47a7-b94b-b48202fca155 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:cc60f3b7-34e8-47b9-b088-42ea119d0c61 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:60eb2398-08bc-4c75-9e75-81c5097ee284 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:601f6835-bbca-4c4f-97cb-786a57cf1aae phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6f58a975-5f85-4ab0-800a-68a7f233d487 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b18687b4-472e-437d-97fa-39d4b35f5151 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7e8036b3-624b-40f6-aaf0-9e97031eef73 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:38c4bf9b-6bc6-451f-a4d0-1ea440a22f23 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:55c42b81-31f0-40cd-b828-45ab265622d0 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2ba5b984-458f-44b2-9f00-c63ec16d2c49 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e8015f1f-96bc-4172-af5b-4a177e8a37aa phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1959f539-d673-45a1-9cb8-72fcbf0cc620 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:42a4aa2e-c73c-4bb3-8cd4-16cb8e53040d phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:79f338aa-da6c-431d-91cc-2bd5020bc501 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:18857eb5-fce7-4e92-b7c4-f3b05cb51f69 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b5d580f7-d9a7-4801-8aea-74b990eda785 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:bdb2e781-82f1-4658-b48a-95d90cdde240 phenopacket.store:GLI3.PMID_24736735_G004_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b06d35bd-682b-47ce-a016-b50c658c36e5 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:0b7c1c55-b6cf-40d2-acd4-6a56920f3771 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6e8d1b8c-2436-47fe-bfbd-e70804c57e7c phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:dc9b7f67-e62e-4ad5-9a13-590031811bdd phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5be72ebe-a2be-46ff-a01e-463a4c57cac0 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:08bce59e-5276-4bf5-be5e-1c383f05b792 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:310c3ed3-8c6e-45c1-b4b2-7c2b77d76120 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3c46e8af-0e59-46ec-a2eb-843138df88eb phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:18dab9aa-d759-4fb3-85b1-11c026797632 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7c8aa78d-7a27-4887-bcbc-260919c86c5a phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0ed5b39c-5602-4d5d-b98e-db7e78d9ebc2 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:13aeafa5-a5d8-4b4c-b3e9-b107e6f8bb7b phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:7da1900c-32c5-4496-b6c1-fecd6e859b09 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:dbe26a7f-7fb3-49c8-aacd-11f243c76103 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ac68ea14-0be2-4a6d-bb44-7efab293f038 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:47238af4-ac6d-4282-997b-66301aa2cf9c phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:70db8f4d-02e2-4d49-b6a3-da4f0563232e phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a4454c92-a787-456c-a0e7-a677f099be89 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1dca4881-3fb8-4ac1-b7f1-388f7790b394 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:35d13225-2a6a-448a-868e-870211a72771 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c5dcd82c-c8d0-42b7-895f-b0b77104b2a8 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ef4917c1-4521-4d09-bf3d-d6dd7efd4a0a phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5408f0a9-6228-4f60-b4a2-f61c992c08b2 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3659d5cf-46a5-4000-9430-679a57b74c8a phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f23011d7-341c-4ea3-9b16-08188e1f9bb4 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:f3f62cf4-8624-4b2a-b5c2-46bed87f9fed phenopacket.store:GLI3.PMID_24736735_G028_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:0a9daa4d-ee9d-4ff7-90ca-bcf12b95e837 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6a41f07a-e64c-4da8-8cfb-37ce03a7691e phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9d3f5c2e-aea5-44ea-b135-66e95c603dd4 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a98e245e-18e3-4391-8ddb-59e58fe653c0 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2cf2d4c0-f76a-4872-95e2-2f47b91e9f15 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:57c92891-c9e1-4203-bf68-40aeda877301 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c838ec00-4d0a-4923-863e-09b2d62b5fca phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4c7b65a7-cd88-4c22-9ba9-e68ab1c1b39f phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cbc0ad4a-2c8d-4086-9b72-5eff7a96d4e5 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a18ce1f4-0067-48d8-bf13-2fc2bae82bf0 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:161de0c6-097a-4f1d-86f7-7d34887a26c1 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:70e0c8d2-58db-4964-b899-acf89a5cd87a phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:dbe5a695-76ba-4cfc-ba49-32e3cf1dd83a phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a7063507-cb00-46cf-aca9-9b2e07c179f7 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3b925450-2f57-459b-ac59-300ea181260d phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:de432222-ec81-4643-accc-4e54b1aa4f18 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:36df9614-2989-4973-8b9e-7bf16fc5ef0b phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:3c5fb759-4cbf-4482-9504-a9428286a63c phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:9aef0d86-3945-4ac3-a346-277c62936761 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:180f0e02-e5f1-4621-b78d-11a92cad395d phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:84eacdfd-51b3-42f0-9c65-ab36942208c9 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:066b363b-ce30-4b8e-bf70-bc2f4e09b752 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:41fa8be1-f347-464e-b0d2-9ec3cc140f1a phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:1a82afef-59ad-4adc-9d9c-4038469ae471 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:4d472426-fc15-4134-b301-6808a0ab0cbd phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:864ef21a-ad1c-4992-ad17-7068e64b24a3 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:b2581e4c-d7c5-4bed-9fd0-a53e3ca63474 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:0bce0aba-4bd9-46f4-a717-68862feb0769 phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:56551b05-3f15-4f65-b3aa-4cc7ad65741b phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:1e62cc38-557f-4d58-bad2-ca88858a69eb phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:8eb16baa-2118-44b7-a840-0b3c46a8453c phenopacket.store:GLI3.PMID_22428873_P1 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:df3a430b-2432-45e5-bcf7-e36245e47a33 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f6275489-6852-4c47-85b7-e410b45064ba phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:104242da-447b-497a-8d7e-75a8ed30ad54 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6b696aed-bbb3-4f53-b5cd-cd9707397e2d phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8f55d4b2-c0ad-4b0d-8bd8-932cec8e2c9d phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9894dd1f-167b-4dfe-91a3-3dbb8674ee29 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8d148f8c-e71e-4dfd-8e69-53a25a1fed32 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6014f237-a4b5-4a54-a803-ae943ad128f4 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ef5bc73c-c511-4352-8925-3e5b5c07843f phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:78458c65-2dcb-4f32-8707-035f6464db02 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4c94a7c9-a268-4ab5-94bf-a58386f61303 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f5e7d33a-52e5-4e2d-bf3b-d896bcaa3507 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2c3754f9-6111-4941-8de5-35433d1e304d phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:79df73d0-1c6a-477b-9c5c-c6737c7b0c46 phenopacket.store:GLI3.PMID_24736735_G081_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ba342542-9ef7-4717-b087-0ca669b786ea phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4068a31d-552c-4680-a59a-bed0fee33886 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f71e5dfc-4f3c-45fb-8d64-fa928efef6e4 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:20594458-28fd-4966-8cc8-ac44a82b8e28 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ddfa6651-e06a-4ecd-8326-1bb27d08fecb phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:abdb4b17-67b3-41e7-8794-5f406a885f33 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6251b8ae-1e58-473a-afb9-d2bcee3594af phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bb6a5872-948b-4041-bb0c-5e17bace57b7 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:70bbf70f-ee73-4f80-8acb-2f2a825a8de7 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:26a557b7-fbc3-4214-91d2-6e5b0c931bf9 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:590e45d3-b61e-4505-8243-3e4de15fa771 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:14d86eea-5e03-4867-ab73-75b2c1487a48 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:331ba24c-2287-48b3-9fa2-be38abbbce82 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:0faeebb9-4422-4adb-97d2-ad68fa63a8f3 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:767fb0be-bd77-4f69-b368-e043d6f27764 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:87c540ae-0307-46a1-aac5-b8cd26a9499a phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d8fa4bd6-b5fa-418f-9aee-12b3f08b2fa8 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:dac2fd7d-6db0-4522-9e15-ccc0b771a27c phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3f811010-08de-4982-89ac-4b897fc8e1f1 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4d931db3-66b1-414a-9ccb-fca15164222e phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7ea824c0-d097-4488-9fd0-c665e910eb05 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6d3b6fec-ccf2-4491-a009-47ca95595589 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3b58574e-c99c-4563-9317-00ebe0f094f8 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7195f970-e401-4009-9c21-6e1d5eac4e4d phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9b3c8368-f2b2-4e29-8d63-30bc3219cf4b phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ac13c670-50ef-4d1d-89d4-756b3ba50b92 phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:75508e16-3a0c-4159-931a-ccf9db9c7bf0 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:719235bb-9fac-4e28-a283-252f95d7096c phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:dd7b5934-cff3-4b7e-bd1c-9975d12657f0 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:058aa3bf-a17c-4740-8966-a9d270a4b21e phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d4cc215d-2816-445b-9546-65bd9bbe0ceb phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a7816142-08de-44cd-b3c8-9384beef4b9e phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:44285f29-18da-4458-9a22-72c51d804f80 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d43e3b14-0b37-4cca-97ed-48bfce430c00 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9cdcf3bd-27da-4306-b828-070a4a841e98 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8ba95beb-e8dc-443d-b6fe-1bd24c3dad76 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:13af82ef-d74f-416e-a169-24509c591ba7 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8804fbd1-72b2-48fa-8e6f-efa73d100997 phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:04677f91-050e-4e07-8226-039a020e113d phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:616fa893-527f-4eb1-80aa-0582a7b95afd phenopacket.store:GLI3.PMID_24736735_G079_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:56390d05-3867-4d82-85eb-076eb686cd48 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c22e98f2-edf3-48f5-9827-cf274e9ef131 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:26d4c8f6-76fc-4a28-bc37-cc73aecd0e96 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1b7b8d44-7d67-49f6-98c0-7dbd4c0a673f phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0ca3022c-d50d-4c5b-80ac-8d53642917ed phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a729667b-22ae-4fc5-9141-33d0c8c3fe5a phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e4a05750-1d13-4293-abc7-0cbb595d4590 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1dfee7af-1acd-4f72-868c-b31ef50cc3f3 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f6e4a79b-fa26-441e-ba44-bbe8ea354f31 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:590bd05c-2d45-48a5-908d-f84d80c58250 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:d7668435-6ebe-41c8-b9e1-9676cce140cd phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c5ce3afc-d15b-4188-9620-1aee5db04826 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:2e124072-39be-4e54-bdf4-b68417b06d04 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:06851b55-e942-43d1-8857-812ac2306b83 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6d4fd06c-ebe5-466e-83c9-e78ab987b724 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4739e7b1-95f9-4895-befe-876a29096b6c phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:18e4af51-412d-417f-85a7-439c089a3576 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:37dec2d9-615e-4845-8d50-7442b5ab0aae phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2dd49bde-04fd-405c-9207-d4f67f128f04 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c51c0fde-faa0-4e98-8933-61bbe6c7c2c3 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:61788bb6-b9de-41b8-b123-bc70959beca2 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a15bb7ef-ff36-4c49-a38b-b2b15caaa842 phenopacket.store:GLI3.PMID_24736735_G121_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:db2527cd-f042-4fb0-99fb-dbb2947cdca9 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5c1a3047-9a99-44ca-8f82-1c0537624d35 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:312e53cc-cee6-41ad-baad-aa1324aa8312 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4e19332f-5615-4b28-86a2-cbee6e2e0041 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a69a9ff0-59b8-47e1-9573-6a91e6db88b5 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:94c70fd9-9f53-4833-ac71-2f5d80f83141 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4d72e858-ee07-4f08-b1ff-897549398bc3 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:487ba0eb-8b59-42fb-8962-a941b12ffe86 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:267660e5-d426-4614-a816-324ae87b18da phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bf4a154a-40f6-42b1-a015-40ffcd3d398c phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:071f0983-921b-4c91-af7c-4e2a7ee20ce5 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:7953a7ea-ad47-4223-9030-e990c00c3b28 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:74929418-febf-4e20-a2c6-86e5c4c706f6 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:282273d3-da6c-4f6d-a80f-376522fd2a19 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8a350d78-4422-435b-91b8-1ba3d0a6a9c2 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:893a74b9-d43c-46c4-8643-78ded915a577 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d67bfb5a-9c0c-4b23-bc40-20ef936f1339 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:26b5014a-183a-4866-97c9-fb22fa70ba8a phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:af116e3b-8fe4-49d5-bdb1-add5fd648403 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:eee64a44-3191-4e01-ad5e-5f235ccc7b6f phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f22117ee-5e94-4abe-b7bd-190931990ef1 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8b2424bd-b023-46ff-aed4-9be7d1c8b942 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1e919119-85d1-4ee1-b810-17ac47d9349f phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a90f3e42-d813-458e-8464-f8c494860273 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:9d63d992-f965-4bf9-9538-cbe310349317 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4546954e-639c-4889-876a-b6ec09075853 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a2618d28-9a59-4312-a59c-95b8faaa7a8b phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:138e1959-91be-4b18-954a-77d7716512e7 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ca7c33e9-0548-475d-a211-36de196c8173 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e59e2616-8ddf-44dd-9c43-d1be1e14074a phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:866bd26e-bd43-4978-97c0-97826d320e2d phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d2ae3548-ccb9-4f05-8df0-4c2a980eb907 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8507dee1-5c3d-4888-a404-1d906d1f25d4 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7d7ee715-a18b-41b7-927c-73778cb47461 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0528e502-629b-42db-92e2-ccb2d602ea23 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:14057674-c2a4-47a4-a3c2-08b4407cad89 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3739702d-6ace-4ce3-b6d5-e534fc93283b phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d027bc44-d663-4002-90e4-b7d3e747bef4 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fa25506f-0c8d-4d97-bb1d-2b7ecd7405cc phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:21259b8e-3049-476c-ac4d-2bfbf39af004 phenopacket.store:GLI3.PMID_24736735_G006_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:e6fdb6ac-2e6e-47d0-9d5c-2c6cde98aef3 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:0e819f03-ba88-409e-b3b0-ebe977013070 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:d6707274-4917-465e-8a3d-ffb95a7e31f2 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:4aaf1b7d-50fa-4582-8f94-621d73079cf5 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:2e2e8ee9-2134-4c71-9bb2-6b9b529bd584 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:fcab3e3a-3fc8-4a00-9e8e-731dd1d533a3 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:0dc86e2d-282e-444b-aabd-11ed49fbe500 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:79a2926e-e504-47d8-b5e2-780e691d7da8 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:8fd0c21a-bc34-4969-9f8c-05c0fda91cdc phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:8d2a8bdf-d30d-4ff2-b1a3-6ed3453161a9 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:3a1694f9-7c54-4651-bd57-26f081b44d83 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:b5bc5598-fe55-4d9f-ae93-b875b0cff823 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:42aeed12-70b5-422a-9fb4-1f658fee2c85 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:ccd7b192-9c9b-41ad-9ec3-21d25b7a813d phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:1bc48dd3-97ac-4941-834c-010fef576bf6 phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:5bd0d82a-0ea8-4679-b79f-21860465690a phenopacket.store:GLI3.PMID_22428873_P5 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:ecd63810-2a41-4e34-b704-c6605ec386fa phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e96a8ce2-cad1-4095-9706-f69a14efece0 phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ef20cce9-920a-4660-b15e-3f93898f402f phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1488f610-9233-4068-9038-d70dad6b2f0a phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b77f3dfb-db06-46fc-bff5-f4f377306981 phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:877d01e4-594c-4bae-afa7-93e58a24b552 phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:19b60c86-2b78-4e65-8e14-87741e1fc09f phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b95999d8-2587-499e-98a4-bfd012bc4178 phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:89e6284e-787c-43af-b36a-e98ce8195f1f phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c29a06f6-9e79-4480-b1e4-9cb58984e09f phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5003bc97-bd58-46c7-a15c-3d0520d25acc phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:08961ab8-f8d4-46ba-9b2b-314dbcd638b8 phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:6a4e662c-5417-48c2-b605-ddefde0169b5 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4ceb048f-c33f-4cbd-aae5-6787d14af4ae phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1316b88c-2e73-4a1d-8a40-93429f2e68f6 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c56b74ad-727d-41d1-8876-f6c1383adddf phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b3eb596a-f104-4f97-b3c0-988a05c2beab phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:2d6169ea-21eb-480d-9f68-285be4ffef88 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:adb21f34-9fe3-458d-991e-8a3fee8feac2 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:42c2fe4c-c807-4a33-b606-3e0d1256de0d phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:792cd83f-798d-4cca-beeb-695d553d5400 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4a1b5748-28ca-4987-af40-7560923631a0 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:732bde09-ffd1-4e27-a94b-8d17d8f875b8 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:73aa694c-3e54-4dbf-9f76-30238de570f0 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cdbf1c23-09e2-4c05-9b6c-7b828026a4b4 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8949e270-4a31-4ffe-b812-de4bec5363d7 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:63b1c932-1256-4ad1-a17f-fd5b48eb16ed phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:57284200-cf4b-4a21-ada2-efd31910e75d phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3945b4b3-e4c4-4f7c-acb2-b68f53b62520 phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7e8a5146-b521-404b-9320-6b3f52e1f42b phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:5ccd22e9-713a-4ed2-afe3-f8251850ba4a phenopacket.store:GLI3.PMID_24736735_A018_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3ed41cf2-e78a-437f-9f73-5f82a1176c68 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:da7ba250-5bb8-4586-a0cf-eccf954db1f6 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:46363205-b1a2-4fe3-b06d-955d691416fa phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:211fe93f-90c7-4fce-9001-f224ac8ccbe3 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c6346197-3414-46e6-8f41-b04624231528 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4d432051-c1cf-459a-bbc6-3ff23d3367e9 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:250871f5-4838-4de1-ac14-3a51e7e35161 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:37a6bc52-eb89-44ac-babd-5aef4bde3649 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:179d5e6b-4be8-440c-8a57-52915da14936 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bf862f32-3f07-43ab-83df-c465a4319ba3 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:de9d11aa-911a-4f2c-9f99-046341479a43 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fc8dce2a-dcd3-4f6a-aa5d-4a9acc489a46 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:95973aff-7e42-4555-aca8-36d1dc4bad46 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:633f89c4-ce5c-489e-818c-5e581d69f21c phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a6e41c44-1a02-44ef-9052-08861e1b9acc phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:05e6b460-5b86-4c84-bdf0-7e668e0131f2 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c0f287a7-ee65-43cb-9367-6d2b531f2acd phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:07ba3300-98e6-4e56-b576-6ae2ca8c8f5d phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:aaa8f030-1517-43ac-a60b-cb7e4c28af45 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c58166e4-be07-4f80-97cf-5fb99142fd43 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:55224aa7-cef9-414a-bf7a-48f053015efe phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cd6f8336-4304-47c6-9836-0c35508f9704 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d4aeb06c-c303-44c5-84bd-3ed5544829e3 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:410792f1-75bc-49e0-936f-72e4dfc44b9f phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c7dd39e3-641f-4388-bfec-b3e09bdcbd08 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:04796b53-bf7b-4f41-b930-440c305fb351 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a804cae4-faad-4d2a-8f75-33f03077f855 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:32f68ecc-be0a-4d27-8ee4-8e60004e3498 phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:2be7019a-ab6e-457b-a2b7-86d76c5c4bae phenopacket.store:GLI3.PMID_24736735_G099_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:d741b603-2ce4-4586-b298-9aadaab3d1ad phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:54ce7e7c-9898-40f8-8941-30375dff650f phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a32c5029-4654-4634-bfb4-baa8d0c22abd phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:0ae6e7ca-8c8d-431e-870f-9134a5b6211e phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:75b0c038-941c-4c41-b714-c982196c11ef phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e89ffb61-4eb2-4539-b4d7-eab950d4a8e0 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9452de76-8f50-4d19-ab2e-20410d4df8df phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3e8fd2c8-e17d-4da5-a94a-4c2f1e43d8d2 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:48b7e60e-63fb-4e02-841d-319c437fd629 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c615cbd4-e72a-428a-a68b-017588b0f38c phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8cac3ac0-76d1-4ab9-9fc1-9b2d9a5f5bf8 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e3ee5763-983f-4ca3-9720-a2c589eaa100 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3d289fef-6a98-4332-9e54-052e8ef1b160 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:95e78319-5681-44df-afe5-742a139c7f66 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3e31db3b-2de8-45f2-b55e-3fe8a6fc8cc3 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:84ee7950-9da1-4932-a9e7-54f1ea1804c9 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:534385f6-f39b-45d9-a223-586c997f1098 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:294c9b6e-0fc1-44b4-b056-c290b9950017 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:dcd59263-f2db-4105-aded-3140ac231cd2 phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4a74fe32-f14e-46cc-b7f9-0d2471f70443 phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:7179a678-faf8-4da2-b70c-930eb17638c0 phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:15149631-8f3d-4074-9a0a-fe7a4c8c4373 phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4e66de03-1e49-45be-ae33-99259a0d747c phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0d411513-f016-494e-9fd9-4ecc4e205caf phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:df12489d-2376-4e7a-b51e-4956cc05df6c phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ed911c4b-179b-4c3c-9ebd-4f1dfcfb2ae9 phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:e37574aa-74d4-4883-a9f2-6f7cb317c860 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a742f538-a554-4780-98c9-9e1c20f94b34 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:aeeb8e0d-70c0-4138-b046-74d38aaa4ca5 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3862cb10-3da7-467b-b8a2-74e2d6ed8b30 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:be096e36-4c90-497f-a353-d46650373978 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ec094428-101d-424d-9d92-3b726768c142 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:adffc20d-4fbd-4820-8af9-76fb6b1fdd27 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:503300a5-3151-44d3-b0d8-6e36245172fc phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:58b241e4-51f1-4326-ad68-361313bd7052 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8d877772-d6ac-48f0-be9d-2498f0dd060a phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7a9c4fa0-ba80-436f-b578-26992f00f8d4 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5237ac17-f046-48d1-a99d-0eb9da31c37e phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4d2e7bd3-60c1-4d40-ae81-a2845b65171e phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b4854d0f-9774-4d9d-a9ec-509d5b1181fb phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3a91f955-743b-426c-a20a-964d54753aea phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b99c284c-6f34-413a-abbd-6ec18f41303c phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2c109660-cea3-4c38-86ca-99bf045d22e1 phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:44f42a31-6cdb-4505-88d8-c7429af37d3b phenopacket.store:GLI3.PMID_24736735_G115_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:aa6f8c64-976e-4405-9a14-df6b8b4b7811 phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:13574f20-50b9-46ff-b2ac-6deead97c495 phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:dd52dbf4-2753-4a12-b856-0148a33701fa phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:468fdf6f-1be6-4f2e-b30c-6aee5f460e8f phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:be0a1355-7455-4589-b350-e0efb9b02373 phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c5dcae7b-50d0-40e6-bba6-764d86a3be9e phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2f321c3c-7a15-4ad1-be7d-4bd9b0ed30bd phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:25323121-9b7c-48e0-b979-1cf5fe1a2e55 phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:2b40502f-9810-4f64-97ff-ae90dfb2201b phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c69d422f-3e0c-4f22-80dc-71d03ea55f23 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4499f78c-ed21-47be-9b6d-4f656d487c8b phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:720a759b-67a4-4933-b89d-132cbda72d16 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:30add0a4-69e6-45e5-a181-cd54f2c8bfe1 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:41fb521d-6735-4122-bdf6-02f39c314951 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:45a3d2c4-d658-448f-aaac-dd294522a731 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a0fb5145-5af9-46f7-b39a-de4670380ec7 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4cfe8095-7d7d-4098-abb9-287f0655604b phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0ec313c2-1ab6-4309-bd41-7e86c1be52a5 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f443aca5-7cb6-4fae-9c27-d40d1a33f3be phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:30568414-b128-4101-a1cf-dcc7103c6085 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:920549f7-1935-4498-822c-c50557c69feb phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:46d29071-3864-46ea-bda6-c5e3c712c0fa phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ac9c9bcf-0453-4701-acde-b7e5a25165ac phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:f575f396-dfb1-484a-a227-0d43938e5967 phenopacket.store:GLI3.PMID_24736735_G114_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c88d1ba2-f04f-4bad-abaa-b71255ea81cd phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b8bf2fde-bb12-4b60-a929-7d9c2f0867e4 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c6baff44-d8b7-44fa-9029-e307c8fa6578 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5b2fdd25-9271-42e4-9fba-fb7f89836b0c phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:538cbc0e-fe14-4c4e-8d91-81d642a06562 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8e4ce6b9-9b55-4b04-9ecd-da62dfeb8d48 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:7ec509f0-ac70-4e74-a011-142089bdab35 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b2c44cbd-57ce-44d1-a484-e61bc4e97974 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1d664945-fd3b-49e1-8055-063c8b6afa4b phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a50b44ad-423f-49df-9b36-55dad49acb73 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ade24745-f48f-4337-9848-a2e60fb6cfeb phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5ae94d63-4aa8-4b98-aebc-6b662d94d879 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ca44a678-b4c7-4f3e-86a9-c7f4e1fb308b phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3fdaca89-471a-4824-8693-6133692999e9 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:07380015-4f9f-4f7e-8670-5f37f2bb9231 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:de100985-2f6b-4d55-aedb-a48874f1404f phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:9d736948-97ed-4b79-a274-226d1570ef61 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:792c5ea3-7eab-45d9-b091-0668f44644b1 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8bbd9378-c648-4b95-812d-5173eb1a80e5 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ca5c6e6f-0549-42a1-935e-e2d8a7c67ab4 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:391fb8d7-c55c-4121-a381-dcbd6a354b96 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d3ac9235-483b-4c09-b80f-74ec4a356032 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4658964b-805b-468e-b677-5d556690fa65 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:766c2ade-cc82-4a42-a345-fb85f2094fa7 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:29ba5b14-d45f-4b28-afd4-e87c5f004fab phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e67cf032-cf56-4bbe-9418-69f42bc8cc5b phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:48692f61-2ea2-45a1-b799-ce8f2762abbe phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3a31b9be-d072-49e5-930f-b18751bbdf98 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fd22651b-10bc-4823-899d-ed1e932ee06e phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ca687c76-4d81-49be-963c-9f0ffecd5e05 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3018575f-84e5-4d15-b128-f39279aa738c phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18000979 uuid:c0475df3-4d59-44df-91be-d558faa959eb phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:1eb6c135-2930-4dc7-ac15-5e117ddfaa14 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:965b13a6-eb45-45ec-bc63-098d1ab5f1a7 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:034a14c5-b1b8-44ce-b8ec-11c81c7bea4e phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:6c35d6cf-e1d0-4868-9bbf-eb2ddbbe22c2 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:5574a81a-dba4-473d-886c-0709bfbe117e phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:1bf0551a-da85-430e-80f2-ef69dd090b24 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:bf88166b-46ce-44ab-a9ba-aa285cc3fc42 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:14b7b00b-54ad-4e39-988b-9da60c804815 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:fcdff67c-79a4-414a-8eaf-5d0bede1949f phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:04bb62b9-168a-49c6-ac4a-8d078f8e907e phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:72c5582e-fdbb-4aba-93c0-16d5dcb75334 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:66d2d8ed-b528-4a3f-9e2f-02b39144876d phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:da27104b-9922-40ac-932e-d98ff7eb04f3 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:bcb05c9e-a1fe-4b12-9ebc-36b318394d37 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:cbc94094-166a-4e16-9dd4-7ef0514304b8 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:7235d996-c916-44c6-809f-1333b097765f phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:af82e2a6-6d4d-40df-8b33-358f196b2da3 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22428873 uuid:a22248ad-aa7a-40aa-aa01-4eff061d445c phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:07a5012e-5d73-47c2-a984-af7fb4f5b5ab phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:727dc844-a841-4bf5-9f48-bf235d7b02f6 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:420c3990-f511-4ebe-b8f4-47172966d323 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:b8ecf35c-9873-4044-a94c-3fe43ffdf8f6 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:1636aa6b-b227-4fdf-870c-c401904570e6 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:0e92dd71-dc37-4a3d-bcae-b4b95cdb3e62 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:fb474668-085c-4f86-a071-4247af5cbf61 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:556fbf66-3639-4189-908d-4833ea22aca0 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22428873 uuid:21b5b70c-348e-4ff0-ba2d-67153d04ba89 phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:6839dc3a-467a-4fea-a781-8dd8d919ef9d phenopacket.store:GLI3.PMID_22428873_P2 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22428873 uuid:9292f827-0c24-4a42-a63d-ec1f1e7cdf82 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:7dc13fba-430d-4130-96e5-d0480b63d10f phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a4b7cb57-9a07-48b9-9a1a-5ca1989a3c4b phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4b8c3d19-086c-489c-9c19-77ed95ddf454 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6fd6f810-0485-4426-ac4b-ffc45a3e53d6 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0b2967e0-cb15-4419-b648-a654731b8ebb phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d1175c5b-bdb2-4f99-a04b-290a08012a35 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:45485eb5-ef0b-4bd4-a154-d19011a839af phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:323f9889-83fa-4857-84c9-15b9591ea15c phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f11aee36-b822-43f7-9ce1-610aaa46f8aa phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:25aee3a7-54d3-4d71-9216-c9f1bae7d37b phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6da104ef-4f2f-4675-8409-5c7114cde080 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0c565df9-8a98-4cc6-a45e-bf28ce96e81d phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:392950c2-2198-4770-938a-5fc4e8836274 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:29f62c32-10b5-4b53-8f83-7443c911fe82 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:58ebb9a0-765f-4879-90fc-37c4f1456db1 phenopacket.store:GLI3.PMID_24736735_A017_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:d41c91a1-627a-4e03-9aac-2a101fe88dd3 phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:cdf39de1-5821-460a-b7d3-e789ccec6e05 phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a0dce392-0b93-46d1-9357-ff276e45bdbd phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:dd3db37e-1a74-49c0-be1b-0487fd41cb1a phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a7649730-496d-4396-a4da-3bb3fc1b7f45 phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8a9c3e8c-44a3-4d89-8b41-a5a38727b3dc phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:38d460db-7a61-400d-9818-ba71029b7631 phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4bc880c8-eabe-4a2e-aa43-8616126e949d phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:544d6f52-067e-424a-95b1-3f59c7fa2be6 phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4563c3b5-5edc-4206-9ec2-d9908ec4b6ad phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6de08270-812b-45eb-ad27-97a014adb43f phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:0ae5894c-c55b-4574-b205-b1dbc825a41c phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:f222c31f-4cf9-49eb-8eb9-dc6fcc899dcd phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:672ea36b-0443-4951-93ba-35e829c8a525 phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:628dec79-2c70-4bdb-b60a-9b9ea7991b7d phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:df336d2e-63aa-427b-a6ce-7dcb8763f473 phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d1bc2f26-56f3-48f8-b964-de9c8b47b1a3 phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ad022ea9-307b-4a42-8cb7-9e7bb98921af phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:05b55905-7ceb-421f-bab1-528ce7e434d2 phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0b3bcc61-a766-4d6e-bf61-892e6a48d03d phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:251e7219-bbb3-4192-b6ca-3264b65b68fe phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0760d8b3-e4d7-4adc-8d1f-9011c8a63f57 phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4feb3af9-4f5c-4cf0-804e-cec41ac8539a phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ea991919-c8da-4d18-8ad1-50777f1914ec phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:5618943e-b859-4a48-a488-d6da0aaa9e2f phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:326907dd-9dc5-4981-b0fa-0c7aac69a66d phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d29a3200-cf23-47f6-89ac-92061cb7567a phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6591a485-f58d-47a4-ae81-7f31146fdc3c phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:410650ef-2f6e-4387-bef3-40daeb543570 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d710853e-c3c9-4954-a6e1-223350fdc7b4 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0fd68933-e004-4cc6-8f5b-a8e10ecda104 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c8de428c-9f5a-402b-9fd8-b93fe6f015e0 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:322046cf-bdf9-4528-9929-9ddd9d31a682 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fd18c434-c077-4c93-8dcc-742b16153683 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bfa0c039-8c32-44d7-8631-1e1d0cca8dfa phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:77f81036-5566-4f6f-90fc-08bbfeddd885 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:3a29acf7-d3e5-405c-91ed-34d216b939b7 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:80dd6975-7c7a-4945-b0c3-3973dee8daa1 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ca065c80-f9f6-4871-a08f-f9214a71df9d phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:06017ac4-5d7a-4793-b9d2-c0c4946f8ef6 phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:25246f1d-7d56-4a1a-8a0f-e689aa2eafa5 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:76a540b3-bfd4-449f-9aa6-b09b0516fe34 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6fab14a2-f132-4b45-8dc8-97633a92034a phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1e6a8f09-08c6-429b-aa3c-607cd208cc01 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:58b285c6-5215-45fe-a9a7-7154ed45a472 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4799ce59-2162-4c79-b59d-ec2a17304e83 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c715ff77-4450-4591-ad54-8c7d2e17c4fc phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c0f0f535-922d-4172-b11b-f1abfb57bed2 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ec391392-22a3-495c-9eac-9c095b6e1c38 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f5f064e2-19b7-4f0a-a4c1-ed4b125c2051 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7601566e-d8ef-48f5-9ccc-375f83b18634 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:258f5f90-a9c4-482c-969d-1944da2b0b07 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:82dd0dd4-7f7a-4ff6-8763-8800ff56e97d phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a03ef916-58ff-4e18-80dc-56c55182eb2c phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18000979 uuid:30096515-c8a6-4cde-8b2d-baeea7a35035 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:d0e7d996-8979-46e0-b35a-1e4bd3afb0e8 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0010554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:e2461d1b-82e3-4e84-8411-75b67c187250 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:4ec436ec-de8b-4dfd-99e0-7890f502edc1 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:788f1c79-0235-4833-aa4e-858d7f2a91f6 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:3d587516-a6b4-41c4-ac09-d73e13ebcd7c phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:19d3dc57-504c-4d7f-b517-e1773188fcdb phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:d2ba7813-9eba-448c-a3d2-9cb7e9bdcb1a phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:45e133b9-f7a4-43db-b0bc-2f5edf1fe7ab phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:b02e953d-8001-49ca-9960-39f968dee4e2 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:2e1c7da2-a4ce-467a-afe3-13544183a098 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18000979 uuid:42cc2da6-290a-4322-a2d8-fb759642a134 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_disease OMIM:174200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:af867f32-b510-4bef-a97b-ecbcd9cafb08 phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18000979 uuid:123821b2-09c5-4991-b715-73bbf0afcf46 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:30da3911-a1fe-4ca7-8ba8-7c3e489593c5 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8d5cd76a-f5f2-43b1-becd-84b6e97a8bc7 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ccc0de92-4ad8-4ab5-9e78-1b0806bfbc19 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4ab557fb-c5c1-4a1b-bd66-2a2ac7699b0a phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:48d310ad-a109-4fb3-ac43-5e6cdf929ec7 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b4d0c5b5-f649-46c8-b853-bf577a2bd217 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7f43b80b-a859-476e-a35f-2ead1fd75d15 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:22a46c72-e322-4e8e-b827-3f54305afca8 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0a6f626d-7b4f-47bc-9a1c-6cf46ab31ba1 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:76bdaa50-6264-434a-b5ac-bddbd618d628 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a2f0edb9-cf23-44b6-9e0a-b9670c6df437 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:0a5031b8-ef11-4caf-8112-39f8843e5e96 phenopacket.store:GLI3.PMID_24736735_G043_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:8acafc02-1c26-4604-bee1-267c6a673f3e phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f2b190e5-cd73-4b85-a908-d39379ff9aba phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:4c004668-7754-4c74-bead-c3a209ddd178 phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5d2d89e5-2604-4c9d-b934-ff77f50e0fdc phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:0a86d1c9-e324-4417-b358-50665da7d38e phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8122375d-bad5-4718-a443-8470b140880a phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5ca78fdb-186d-4d03-8e8a-8cd1d5011dfc phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:812c3c96-54f2-43a6-b9fe-743dd480a0d8 phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4ee87bad-eead-4884-ac5e-3b8ff8562b50 phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:50eadbf6-2fcc-41f0-a480-934ae14a19ca phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:399b9298-0cd3-4871-8bdc-962b78e726a2 phenopacket.store:GLI3.PMID_24736735_G085_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:3f593852-47e4-4701-ac46-337545365392 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:84c088ec-90aa-4ca2-8a6f-8e7643868f81 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:04247223-7b2e-4fc5-835f-8ec4e7437729 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3715004e-232c-4e23-b424-06de63be3f43 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1947eb8b-9610-4898-9cd3-8b3d73bc6f66 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3531e165-2ec9-47b2-8dec-a0fb7b4a7400 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a9b172ad-52a1-4389-a2b5-414d811e2a8f phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d5afb325-506b-4747-b444-afd37255e3da phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:80f8cbed-6594-4f6f-98c3-ceac671dc910 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:792b266c-c850-4496-a579-bfcbaf16146e phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:2d93569e-5f54-4a1a-b2e1-0af6318b0dd7 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:27db4387-5f7f-4119-88b9-885a810076d8 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a56b849e-f235-42d2-b9d0-f4e96b440c07 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:8208fa28-e7ca-4f45-bd96-85a83239925d phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9db5d574-e64c-4ea1-b207-2501f236fc11 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:71b1d333-d670-4582-adb8-090d9ed3b11b phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1fb5cd9f-ca0e-4352-beac-6328de5f69ee phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f52078a8-aa77-4608-b293-d107d68fef20 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:15a83661-a011-4eb1-bbee-4037bbb8b587 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5a3516d8-eee1-4099-9752-de3664debf0a phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bf179e29-932c-45c5-afcf-5ecfea3b7261 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c7c8790c-def6-45e4-ab86-8b030e9b5d43 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4e28fb36-852e-4fa1-8a10-6ed2645f624b phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:cff473da-59a8-439a-ba54-ec87d44199c8 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:fd1130de-2623-4586-98e1-f3a5712ab5be phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c33769e9-6f7e-44b1-a894-0bcf88b5175b phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d7485942-e421-4b13-b6a3-d12339002f74 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:37b6a240-8398-41f6-9913-45d0ea4baf28 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b04dc0d2-5663-459a-a1e4-1a2d187210e7 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:7d30af78-4629-4e0c-8db0-f6156dfd4396 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0730bdeb-73cc-4da3-a75e-95af8220281f phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:baa81d04-674e-45c5-a5d1-dbf775666339 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5c85aa80-3527-4ce3-bb17-e441bc0a8b8f phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d29b19e6-d7e0-44c3-8c59-67c644ce5585 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:55631a5d-a57a-4d79-b9a5-0b4fd7ee0f23 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b3d00f56-f6c0-41a4-9cb0-bb182c1a7fc6 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:d8230509-4b2e-48e3-87f0-4265226103d8 phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:a302072b-dcf7-41c1-945f-8fb1cdbd8625 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3cb79f03-730e-41b6-8c3b-e4157ec57e3c phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:f6f36c3a-b468-46d2-91c3-e46021473c39 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6a457bc3-5c3f-43f6-8427-d98335bd893d phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d9a13521-453c-4e0e-afb0-41d247b26966 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4c0bacce-b24a-44a1-b8a5-6fcb106c86d3 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:0449220e-efc3-4afa-b9f1-dccbf18ac28f phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ced35aa5-d0f0-40af-84f3-9b8caab4d6eb phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e67a71ee-95e8-4346-adcc-e829cd2e08f2 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c8fe8cf4-3586-446e-a75c-2de500a9384b phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8ed71901-f20d-4724-9970-6e9bbf34f676 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:84617b6d-c5d6-42ab-85b0-70ac2a04096e phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6f657f1d-75b6-4558-9cd3-6f1fde4d02be phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:50fadda5-a70b-4d99-bc26-8c7d1f5fe028 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:8f9786d5-0dcf-4c2c-9034-b6b4737ccb36 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:fc07f1ce-f705-4f2c-bfad-f8b0653a3c92 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:be51724f-c665-418b-b339-e0bcdfcdd93f phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3d0a0a37-07bc-4407-9a9a-99e03fb82bef phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e668b771-beae-43b7-b0ef-fc59d17f3fae phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a6be7173-39b8-4674-854b-04d121d1b1aa phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c3545f6c-a0d9-4dc8-aeaa-b69f8dbd1ae1 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c8bcfa74-41d2-4ebd-b327-0b55e3d72104 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b0d7d54b-e9bb-4a16-9da3-dac17442fc7b phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e62f7382-7883-4460-bc49-8f3547869053 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:786c3c6a-89d1-47f1-babf-03cd592aa3b4 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d73ad3f0-0897-4af7-8be6-75c6013ca20b phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:1c9aab1a-e709-4c5b-bb72-1530f35c4e2e phenopacket.store:GLI3.PMID_24736735_G076_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:928c9461-e640-4e3b-9a1d-585066c4d931 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:7843193c-a511-4ba6-aefd-e833d83f3fb8 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a79d0c2e-5270-44a2-9db1-7a6ad2326b5e phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a9adbccd-379e-4a45-9c4a-c3d286ff4e1a phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c2bee3f4-1c56-4c8a-aaf9-6da363e8274c phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:56004ae1-3009-4ff8-a817-b7cd4bae51de phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e1a14b33-77fd-4688-954a-af7cd0a2480e phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:74b42543-3378-4603-b503-d7cb9ad3e380 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f7efd296-6885-414f-a851-87694b8ea264 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:edca8c8c-cf0d-45e1-b0d6-2ee02a4a6d70 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:80d364a0-2e35-46f6-9964-2be030163359 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:db2a83c2-5db7-47ed-9ead-48070895495c phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f50c3518-6944-4234-8685-e64489dfa291 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fdb0d359-d95a-470f-91ad-cfe8c041d035 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a92759bc-1a6d-42f6-bb4b-d9a4cda61d2d phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:20754ddd-7514-4bd6-a80a-222dae62ecf7 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:41b5744d-0723-4915-bdb3-0c55c6982370 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b7a5b729-a08e-40b5-bead-b9e31eedcad4 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:b420dadd-af8d-4bef-b179-2e9f4b642441 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:98d8bc2c-0ec1-4106-9786-f165993d06ab phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a61018a1-698c-4297-a2b4-886ba41b6b22 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:9704cb06-45d3-48a5-849e-fbddefe8d03a phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5381b9b9-32d7-489b-bb19-cc720a63dde9 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:d6c2800c-a97d-4d91-8853-a24e6e9bd745 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c66ee1e4-6770-4f83-ac09-ffc04502cd79 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:b18fc917-e67c-42f3-8aa3-f966e12e8557 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9833c027-532f-45cf-a276-73e46bd3b569 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:025cb384-f6da-4f0f-8424-26c134363be2 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c753e45a-e1a2-4312-b4b2-b2bec5203397 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:386d6e15-2b04-4fe4-8797-218af89debd1 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:b53f24f1-4342-4e7f-aa97-b73c1e0d7970 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:6edaee14-d2b1-480c-9392-9c0333856f00 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:54625a16-27fa-48fd-9b89-7ac486196e90 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:60faa5f1-4c25-4dd5-94de-310c8384e66c phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8152b85c-fdae-414e-8ddc-9162dab414db phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5825ed20-0297-4125-9ed1-0e5ada2ef0ba phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:52ccceaa-f753-4855-ab03-fc346c149016 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bd9e4db4-c3f0-451e-aab1-0d5c622ea421 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c8acae01-43fd-4c46-a91f-54ccd24f0fd2 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:1b840da6-e3e0-4387-8333-7bc2be63425b phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:2bf673cc-ce36-4852-868c-099a30c6dd00 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:93afe716-e8ab-4977-952b-78b0c2415baf phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:1fccd886-93da-4bb3-b573-9166d0ff4403 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:186a7964-cf53-48db-a9d2-289470f77162 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c853e2a8-f188-4ed6-b992-fedc343ff556 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f1dd5746-7e79-49f2-a95b-27b8761880bf phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:000e0d59-a464-4aec-8eed-8d2d77d764f2 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:36f87434-4740-4cba-beed-4858a3ac7d92 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:17e7835a-7e42-4b82-b300-b4a371433474 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:77886a8d-d90c-4afc-a0f2-c28963ff1def phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f626bef1-00c7-40bd-b4cb-e370a88f45cf phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e38a14ad-b089-4856-ac37-f609ca559ec5 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:c1bab3c2-5662-4a58-bf0d-b84c7fad57b4 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:50224a66-e80b-4e41-a8c6-8e1c42501a94 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:244de173-a8be-46d1-8bd2-78c704442746 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f2367f5f-2074-4770-852f-030aeb356bd1 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:4b21cdda-6564-4e64-bd1f-316dc9550b75 phenopacket.store:GLI3.PMID_24736735_G029_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ca0fc84d-60ff-48fb-a7d1-ebfb93464926 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:a3bafa04-b0dc-4787-83ab-af95bc2d48c1 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0006118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:36096e96-8105-486c-a8b7-4baeff4b0a92 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:cb2822a1-045d-437e-aedd-588601bb0f05 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0010564 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ca1d8b57-58ce-41f6-8869-8f68f89835a4 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:8a226412-9257-45ed-9f00-09d6d502b851 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:56c2a55d-9827-4284-806d-4aee3e1c26c3 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:08348bf6-73ac-4a04-bd83-c5e842919e51 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:34cd7c5b-3a20-47d9-a839-06aaf8ee047b phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:ab6cf766-f18f-4586-8a0c-cd643abb5c6d phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:1c691851-f23b-4d4f-b06d-f2fe39766464 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6fcea851-8a71-4c0c-8dc7-de52164869e5 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:6cf0500d-b2b9-4ad9-894f-cf4dad2f778a phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:080367bf-5c55-4f97-b2cc-d822bec206ae phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:34f63598-5e3e-4719-b5e0-e088315d1d31 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a04edfa9-4051-4eb2-99c6-1f18ed624ef4 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:cb18b879-1248-4c2f-a697-e29cfac95637 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:913be8bf-600d-4da7-8515-3fed0804efc3 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ecc74f8c-0d8f-4496-9167-4c1278bf7d5f phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6aded365-7ae4-4bfa-aa1e-560c09636f74 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:70d3def8-759d-476a-9661-fc5bdf95261c phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a5510632-87e0-414b-8120-50d0555ee032 phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:e80b490d-5e6a-4d27-84dd-e2309ee176aa phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:e6364db9-d765-4287-9763-34f03ab58e3f phenopacket.store:GLI3.PMID_24736735_G118_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:1b936905-17e3-4c4f-82c5-7383a278d953 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8e4d8842-6d0a-46a7-a6d6-64773288fa70 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3a830632-3a90-4bee-968a-b5b0218cc998 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:c303312f-a747-4932-8edd-53554d2c0e5f phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6a505f27-bdf8-4678-b775-668baad8390d phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:a0f4f4f3-bef9-43c8-9522-049eab84e6e8 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:78de2583-48e9-490b-9f46-f59d8ab37897 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:23269cd4-8a4d-4699-9224-d3eac18b6665 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:06dd5571-d61c-4499-9256-e0a1e7774c9d phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:05e8a1a8-ab5c-4d16-9a67-8b1778526441 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:38332066-97f7-43b8-96ca-fda98ea82175 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:862680bc-6240-463f-9774-2da130e364e2 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:2beadb54-f7ff-4cfe-96b7-eeab631079a3 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:3bc27117-4f90-42a0-878e-10491fe9cc48 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:e5b3b36b-eda7-49e5-8a2d-a9fff8870830 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ab0defea-7b7e-49d6-bf94-087723987e80 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:774d2727-8999-4035-bebf-d36452e99378 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8660e20c-d6c6-4049-b0fe-da951a179892 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:8f072b7a-e4e4-4101-8c2b-5ac613322208 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:09419860-105f-4528-9fd7-071842ec0b0a phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:996413b9-c3e5-4d24-b820-c797d06144c1 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5f99d446-2187-4ee1-9420-427e871560fc phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:eb5e9b91-4017-463e-ba4d-67c0321161e6 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:ff59d703-cd05-489b-ae62-9fc1a03ca7c3 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:caefa426-4bee-48eb-b6e5-191d48d6a961 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:6af5d913-601b-4462-80c2-09e6cfc6d77d phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9569d199-0803-42ca-af5d-c7c4b32bc07d phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:6bf36967-8ad6-4b86-8b66-06ed6a281e13 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:383fa40e-895f-4227-a66b-bf911533b787 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:5c6c35c2-2217-43a7-b5bf-b7f424f2a4a5 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:d8a00a8b-fcdf-4311-8efe-83f9d35e7d83 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:199449ec-dadb-43d7-9eb9-a003ab42b32d phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:209e4a46-ba4f-4415-9278-e12da80b66df phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:ec128bcc-a801-49be-bdf1-4f74d1a9aa72 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f4c7259a-3f4a-41f4-8862-63cb1173cc4d phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:fd21471d-cec5-4eea-8daa-8bc8eae18813 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:08239412-2e39-4f36-a123-7eb443075c78 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:9d0e8309-fda0-47e1-adaa-b99da84c706a phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_disease OMIM:146510 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:c7480713-f062-4657-8e1e-987e6e2381c9 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:f1211e38-e9ce-4a7f-8767-93180314fbb9 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:0da095bb-45a9-44a9-a717-49172c284880 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:bfcd3aff-3e57-44c7-937a-14eef7d7bedd phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24736735 uuid:fb23df65-c4f3-4829-8e00-62b081515c58 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:23cc3574-58f3-434b-a939-49c905060c6e phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5f9353c8-cd71-40d6-b615-c0ff1d51735d phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:52d35fbd-e10f-4736-93aa-679dfb3af841 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0006042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:5a9abed1-ecbc-4a19-be58-0d107c6c10b9 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:bb692146-c762-4160-8a66-bda5a1804423 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f4ef1907-3a95-45e5-a215-4e95b42aa859 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:f2ca702e-2ec0-4818-a57c-8158f98020b1 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:eeb5c357-4dc0-4c8c-aebf-d7ffb35749e4 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:4ac5ae07-ed9a-4c7c-800e-e8a896afc161 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:af964a9b-9111-472c-9ad6-1c0ad2dee7ac phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24736735 uuid:91cdaa92-cf3c-4e4f-90a3-27fe92138b1c phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_disease OMIM:175700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:4640805d-4029-451c-82a6-43afae5214c0 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:has_gene HGNC:4319 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24736735 uuid:32adbb74-1bf1-4c71-9efd-c9624fed6bd7 phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:24969041 uuid:9b4ee622-29e5-4313-a847-1429dd39d30e phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:24969041 uuid:5cc615a3-181e-4c5e-94ac-8a101784049c phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:24969041 uuid:ef97dcd9-fb05-4b2f-bfe5-958e8c9f72b3 phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11D infores:phenopacket-store PMID:24969041 uuid:3f6672e7-3cef-451b-81f4-b239986775a0 phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_phenotype HP:0002011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24969041 uuid:c5e47459-2b15-431a-aa61-cc159953e282 phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_disease OMIM:149400 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:24969041 uuid:e1a42672-3cd8-47d2-b44a-a020123c0c04 phenopacket.store:GLRA1.PMID_24969041_neonate biolink:has_gene HGNC:4326 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24969041 uuid:500a92ac-0979-4d03-921d-2069fd23d537 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:38579670 uuid:aac3379b-a17f-4396-b176-847626753f62 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:38579670 uuid:9a67f7e4-f661-486e-a13d-dc03f1c6816f phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:38579670 uuid:743fcffa-0731-478a-887f-fce16f05e3aa phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:b31c0d7e-e33c-4519-8952-f24b513925cc phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:d73a4060-9993-4e68-8c8a-6b902d966c78 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:f7de0a4b-f5ad-45cc-8eeb-db223ef15993 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:4e4a9b09-bf23-42e3-8b21-78690b90b56c phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:5eef7344-b1ae-4204-b048-982a22c60686 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:6b06ab8d-66b8-4302-8087-4dca16b2277d phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:d9baca9c-9434-4b37-9f24-4d4ca413e985 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:b702e69f-d074-469f-946b-cae9ebb1752e phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:036b5cdf-a51e-4a1b-a963-f28e98dff138 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:371e6d82-c679-4a11-b83b-0d80e3a1685e phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:1e4842cb-8a6e-499a-9d1b-8f18356408c7 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:4fb79579-b961-40e9-accf-b3d5d150bc83 phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:c8b1fa45-cb67-4347-818c-9b16a793f0bf phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:38579670 uuid:07ad9b7f-ed55-44ad-826d-1ac07695ee4f phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:b7cbec1b-c94b-48ef-a782-8c141252586f phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:38579670 uuid:c6cc562a-8cd8-421e-b928-66d46ea74c90 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:2fe06730-bf10-40fc-86d2-17920ced2914 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:24fa1cb8-4115-40af-a744-8f544e2f4b40 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:b7e56e63-cd76-4f73-8c1c-83f1285866d1 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:e17aa8d4-879b-4cd8-a9dd-a77fa7dd0709 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:14b29615-5be5-4411-bb78-224075ca49ab phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:0b8eba32-8092-4b0d-873f-8490bea1a3c1 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:f98ada17-7093-4c97-8184-377ab0ba8ae6 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:17538493-fb93-4f10-80e8-a371e376886a phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:d84ed47e-c15c-4a38-865d-094737f674aa phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:1497c209-1e40-49b7-8979-5f5c8a82e95c phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:0cadf669-b554-46e6-a841-70569abe7a42 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:b5494401-1d3f-4529-8d97-1a4c2ad56d52 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:1136544e-8f03-43eb-ae68-bac8556a6e7b phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:a8667ea0-5c54-442e-8a90-e4a1237290a9 phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:38579670 uuid:7dac3b7e-71e4-441e-a472-3baf3d6bdf0a phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:3f2f22a5-0ec8-43f4-b9c3-c5a235c532c3 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:38579670 uuid:1a434a04-3a06-4f96-bc8a-d909311ffb3c phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:38579670 uuid:425688b4-e21f-486e-95c0-84d2140bc578 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:38579670 uuid:bdfc0486-a5cb-4c27-9c8a-9722a4d52146 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:38579670 uuid:e3ac4610-1725-487c-8d7a-99a065abb8ac phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:c21faa37-2282-452e-922b-f838ba271682 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:07006bf4-2320-4fa7-b3ba-78cb8b7cc6ed phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:7b157b95-de4a-41e1-9199-036a44491cec phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:ea49a885-e069-4e35-9d39-3a4a554e181e phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:fdadaf78-b227-4afd-a910-eb12e6eb00a4 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:b869a8d0-564e-4be9-bad9-b39e58935f1e phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:5d715182-5e3a-46ce-bd0e-d0fc1bf66a11 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:ed381041-109b-4180-8736-e37ef98fc450 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:f9fc7317-d8eb-4d5d-a16b-a4e527248e76 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:ee49a0d2-3c2b-4bad-a691-b5e4526bc29a phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P2M14D infores:phenopacket-store PMID:38579670 uuid:313b6a0e-4065-4be2-bb81-ac8edd632835 phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:630a4b70-30ce-4fdf-9c07-6028683e6b62 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:38579670 uuid:e7e11b7d-d39a-47c8-a9e1-83c80ec33ed2 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:6970fcdf-4ade-43a3-8f49-2e841b55be0e phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:4b8f25ce-a8dd-4828-b7b0-cfd9ee4e3bfb phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:909a862b-2b02-4ccc-83b5-cd286677b1f1 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:aa5a0df6-da10-4f79-be0c-912fe9b8959b phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:2f9f6a29-ffc3-42a1-a290-1ae2bb7dc3e7 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:d84ddeae-b038-4a67-a5c1-ce435890cf6e phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:d40f5195-0fe8-4d1e-b38b-b2315e09b7a8 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:4986b7d8-91ab-4f0d-8657-bdbe24b6e09e phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:bc11f692-fdcd-4f9c-8574-f4151f5fe389 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:64ecc221-ff8e-4610-af57-f1d8f20dd75e phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:2dde08dd-350a-4e94-b209-1db9a310763d phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:0bab045b-8ff6-41a1-b479-92d2edd1fa3e phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:99c81a18-e32c-4158-adce-f0d5f13424bc phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:1dd502f2-f258-4613-9edd-d874ff854e0f phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:38579670 uuid:9bfaa7bb-a139-48dc-a70a-6cdc4266f794 phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:dccc971c-e047-4a81-89ea-c989c44d5879 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:fb192044-1a6d-46bd-863e-3477bc5937e7 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:b16df15f-491a-4719-904a-ec4c7c284beb phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:5c27c2b4-cdac-469a-986e-5fca2e39f098 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:babd87ee-42ab-4b8e-9534-5dfd727694ef phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:dff22741-b5e8-4358-a90d-a7d7c0fbd4e8 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:f2ef213c-77cf-4df1-b0ce-67d9828eb7f6 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:b6a8613c-bbfa-49a1-b9f9-e6c28c44dbb6 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:f75830c9-8f79-4881-b7d5-af57e40d3127 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:f49c8de2-3aa0-4ae8-8fc7-fabd419d5eb4 phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:d902bdd8-da6e-4dd3-8494-90173cb97f23 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:38579670 uuid:aadd6ebb-3c1d-4b6c-a16d-d386047d3a8a phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:7ab79648-8c00-4bf6-9694-0a529258f646 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:4c351760-5b78-4064-8a2d-b5c437cf15b8 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:07ccace9-a037-4170-905c-0d52c719708f phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:5072796d-9be6-4597-842b-6bfa8d1815d1 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:8b004545-c421-4556-91b0-496399427998 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:9b1a2152-2cb6-4bae-b903-eb73abddef6c phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:40852858-f7f8-4b08-a340-560fae37583b phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:d1ea01f3-e430-4134-b0bf-acebe1e720dd phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:cd6f3351-db8f-419c-b724-15a58e8becc6 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:69a07dcd-91b9-4b14-93f8-236ad31e2d2b phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:3ef50c1c-941c-4370-93c3-e0561c7646f8 phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:6678cd2a-a927-44d0-bf32-ae43bb75965c phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:5e1784ff-e389-432b-a187-84318667d50a phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:bf5ded00-6544-43e9-80c1-c407b049a5ef phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:38579670 uuid:48429090-bbff-4b56-a2c2-69f7f1d7eabb phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:e1def91b-ad3c-4a9f-9cd2-02517871afa5 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:38579670 uuid:29680ec5-6a7d-4ed3-95c9-70283e883da4 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:38579670 uuid:ddff9455-0fbe-4e38-a5a2-56b8a9fc3fcc phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:38579670 uuid:cc389041-c1f5-474d-85af-af496ee8963d phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:82c311f8-f3ef-4cf4-a2e6-3f4c61b055e5 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:5e77c65c-44b0-4493-a8b7-6d3f6e26665a phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:8ea0611c-7cb1-471d-a627-47c5f749a8b2 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:d1690e2b-f0d2-41c4-ac24-a29a3924117f phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:84ccdfad-f607-4879-b2ce-40c31055b53b phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:9c7dd84f-896b-492b-8f02-02dd5406d7a6 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:2a0ca173-fc61-4a3d-b04c-34e3db9a774a phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:abbae0ee-d4ed-4f7f-9e3e-8d95c7d8c180 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:052fdaee-ec30-4b39-bd70-f47833130640 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:0574055a-fb4f-409f-8183-f73237b126a0 phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P1Y10M infores:phenopacket-store PMID:38579670 uuid:0436d2df-cf27-4491-b99d-2e713b9f931c phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:91d8366b-8948-4e9b-ad32-f539a9163083 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:38579670 uuid:09e94d20-6b81-44fe-822a-3dcdf1f6e85b phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:38579670 uuid:8b6f2e3e-3363-46ea-abdf-83f2d50e3509 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:38579670 uuid:f4b54227-363d-4be6-8eac-bff4b1ecc8ca phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:d86fc342-caf0-4e7d-9afd-a44a3555eb65 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:1af82a36-5ab8-4acf-8aca-d62dce1af164 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:5c2f021e-6951-4d74-b59a-c76bbc176db5 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:a4681cf4-1759-4998-9db9-fdbe3b6ad698 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:d35e478d-59b4-4030-83c5-50bc0ffac3ed phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:9cc8e343-fae1-49e2-9719-9dcbd2624658 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:612f38c3-47c4-4809-9051-65f553a5a956 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:876fb242-5724-4b69-8dab-d94cf556c23c phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:e7af61af-fe65-48f7-b2a7-43a25e8e43de phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:1987f5d9-41d8-4f11-ac66-8132749b5e3a phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:625b6f27-9d55-4f69-869f-49af822cd52b phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:cf41c5dd-01d6-41d1-b2da-e778a19d630d phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:38579670 uuid:38187577-3c62-4d2a-97fb-0dccd2213809 phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:a49493e6-0057-4c86-8d96-291abbc66412 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:38579670 uuid:541c802e-a16a-4c70-abf7-08a27d774414 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:38579670 uuid:be941c49-0ff0-44dd-b12a-39af26855e4c phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0500147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:2935caec-6514-4a33-b40e-9b34a00af6ed phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:616893b1-9cab-4499-9f2b-4210fbe9acd7 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:975afac3-585f-4210-a9e2-2175f9cbb0a7 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:489325e3-f13a-4027-ba6d-0456bbdff608 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:c372f60c-771d-4d80-8d4f-e6fff3a651b6 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:c6afe849-61e4-42d7-afc6-4405ff0c14d6 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38579670 uuid:be5c1291-6397-46d4-8eee-f7c776611a2a phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:1145c912-72b8-44eb-9edc-4d9335d94fbf phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0500198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:7feb14db-652a-45d4-8fec-280b481a3024 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:00b9d77f-ee8f-4081-b5df-9c0d75d85155 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:33e2ac8b-edb8-4418-8438-def2b1d71b3e phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:7bd7055f-9bc2-46b5-827a-a113e51feb5a phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:12258add-ef39-4f8e-80b1-d86057080729 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:08b9ca75-0021-4668-a646-ba6d87559204 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38579670 uuid:2b7264b8-d79e-44a1-b563-5a6abcce3d75 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_disease OMIM:620806 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:38579670 uuid:551bc3c3-dad1-4155-9a3e-2dc3760d8268 phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:has_gene HGNC:4341 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38579670 uuid:abcc2f38-90ce-4053-9bf9-e1e72b9e9398 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y1M infores:phenopacket-store PMID:23993195 uuid:409a66e9-ffed-4819-88a3-b0e6b5ddc809 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y1M infores:phenopacket-store PMID:23993195 uuid:d9f44806-36c1-4d13-8001-858cde010d04 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:23993195 uuid:40c37872-92e3-4be4-b3a6-d5ed1e219984 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:acb5a299-f0a0-495b-8ba9-fd1918060309 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:4cc35fff-f683-4625-807d-f82c996153b0 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:1bb0cc65-bcbf-43e3-aeab-fdf5e68776b5 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_disease OMIM:615473 biolink:CaseToDiseaseAssociation manual_agent observation P29D infores:phenopacket-store PMID:23993195 uuid:4afb8000-dd56-47b6-bcb0-f72a4c961071 phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:has_gene HGNC:4389 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993195 uuid:7d1bef2b-7cbd-4259-9f14-6abf2c06e507 phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4D infores:phenopacket-store PMID:23993195 uuid:078333e7-be26-4f9e-be8a-23d683fbfc47 phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4D infores:phenopacket-store PMID:23993195 uuid:7fe764b8-14a5-401e-bf88-40938e936e0d phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:c872dfd0-8226-4353-9cbd-ea2199e14595 phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:dc88693a-54a6-473e-8f47-051a8ffc9582 phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:17a86c6d-876d-42b2-baed-13062793721a phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23993195 uuid:2846219f-cc02-447d-88a6-ea21e7080113 phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_disease OMIM:615473 biolink:CaseToDiseaseAssociation manual_agent observation P4D infores:phenopacket-store PMID:23993195 uuid:0b771634-59ba-4796-99ac-18e9d9c67db5 phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:has_gene HGNC:4389 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23993195 uuid:20e25b12-762a-485f-b5d9-e77b17e75ef0 phenopacket.store:GNAS.PMID_25802881_M66 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f3d7e7ec-eaf6-4906-bee8-68946a9d94b8 phenopacket.store:GNAS.PMID_25802881_M66 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e647d00d-d576-49bb-9007-cce9701ca16a phenopacket.store:GNAS.PMID_25802881_M66 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c298b421-1e10-47ec-8c3b-ae5b537e3012 phenopacket.store:GNAS.PMID_25802881_M66 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:9b154555-6852-4b4b-928f-311a716bd550 phenopacket.store:GNAS.PMID_25802881_P6 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:dae185c3-df89-45a0-8b1b-96bb16ba886b phenopacket.store:GNAS.PMID_25802881_P6 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:fd661b96-52d8-4d47-a141-461037e27539 phenopacket.store:GNAS.PMID_25802881_P6 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:0066ecbf-06cc-4152-97b7-641348db6a79 phenopacket.store:GNAS.PMID_25802881_P6 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:15dcbf7c-03ab-4df4-9475-9532b275535f phenopacket.store:GNAS.PMID_25802881_P6 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:22bf049b-ca9a-4080-aebf-fc8bfe10ffff phenopacket.store:GNAS.PMID_25802881_P30 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5dc92390-3765-44e2-b65e-26f813060f56 phenopacket.store:GNAS.PMID_25802881_P30 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:92576065-b4ec-4681-93d8-d156b9d445c4 phenopacket.store:GNAS.PMID_25802881_P30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:dde44790-0d55-4d97-b29a-aabe926489b2 phenopacket.store:GNAS.PMID_25802881_P30 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:985b955f-6b92-4224-932a-9033b94ae6de phenopacket.store:GNAS.PMID_25802881_P30 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:95be0aad-6c70-43ab-b461-5bef440b0dd2 phenopacket.store:GNAS.PMID_25802881_P30 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:7e43dedd-5b25-4b27-b1f5-c91525b20af5 phenopacket.store:GNAS.PMID_25802881_P20 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8eb391a6-249b-4f7d-97af-f91092e76620 phenopacket.store:GNAS.PMID_25802881_P20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b10aff33-a677-497b-be92-b958f49fc643 phenopacket.store:GNAS.PMID_25802881_P20 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e70dd4d8-dae8-42b2-a0ba-b39c9f0eb0a0 phenopacket.store:GNAS.PMID_25802881_P20 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ec63110b-4ef2-4696-841c-3780e9ed731a phenopacket.store:GNAS.PMID_25802881_P20 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f703393e-f9eb-4721-b63b-c8dd6bc9856f phenopacket.store:GNAS.PMID_25802881_P51 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:cefc7c7e-ae20-4f22-a2fe-ff8a34f51ea4 phenopacket.store:GNAS.PMID_25802881_P51 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:9d79da73-5479-45c3-a94d-7cfac9d3da44 phenopacket.store:GNAS.PMID_25802881_P51 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f03b63c9-5e70-4b3d-9faa-8a5b45e1200c phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:46c197d5-0f84-44a5-b29a-7dc482dd22ac phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c6697eff-c552-4d2b-a55e-21d9dbbb116a phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:142ae560-beaf-471b-b235-e42ae274577e phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:05e07bf1-83e4-4ad8-bd46-5bb5a81f410b phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:16686213-cf90-4195-8468-f988043ca751 phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6ba9ec6e-5f6e-4ea2-b718-74557c711266 phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b38df9b2-dc0e-4b34-8884-e7a441f6224f phenopacket.store:GNAS.PMID_25802881_P45 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f849b2d7-71d6-4e1e-9eac-2505f4527c61 phenopacket.store:GNAS.PMID_25802881_M35 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:899625c9-35c5-4781-8ace-7bde41ae6aaf phenopacket.store:GNAS.PMID_25802881_M35 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:83a064ff-33d4-4718-b48c-822ebc5645a0 phenopacket.store:GNAS.PMID_25802881_M35 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c5524f72-863b-4fd1-bcc8-310eb820f477 phenopacket.store:GNAS.PMID_25802881_M35 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4afbb73b-6180-4215-8313-51571a7ab03e phenopacket.store:GNAS.PMID_25802881_M85 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8f6902d6-710c-4978-9b75-a9d1c3924a1f phenopacket.store:GNAS.PMID_25802881_M85 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1fa2e46b-953b-4257-9b5f-6ddd6c3540d2 phenopacket.store:GNAS.PMID_25802881_P44 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e5958d04-2401-4ca9-8b81-1b2dc3417b05 phenopacket.store:GNAS.PMID_25802881_P44 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3bcddae8-6656-469f-9cfb-5539c6330c03 phenopacket.store:GNAS.PMID_25802881_P44 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:aa950c81-f94b-4095-8b0a-3deccb2c9e4c phenopacket.store:GNAS.PMID_25802881_P44 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b6e60096-e25c-40a6-a684-e688e787381a phenopacket.store:GNAS.PMID_25802881_P44 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:399e0259-6649-4c54-9e28-370fd9402e1e phenopacket.store:GNAS.PMID_25802881_P8 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ae5439bb-2c19-4376-be7b-468ba284e447 phenopacket.store:GNAS.PMID_25802881_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:008b29b0-e51c-4d78-91d6-c17a5a3576b8 phenopacket.store:GNAS.PMID_25802881_P8 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5b90a005-bf42-4cc7-b8c6-fd07f51cdd35 phenopacket.store:GNAS.PMID_25802881_P8 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1d6e0f6f-370e-49c3-b171-388943c15893 phenopacket.store:GNAS.PMID_25802881_P8 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ab12d7a2-1113-4fec-897d-cba4793faab0 phenopacket.store:GNAS.PMID_25802881_P48 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:91d96bf0-bbb5-4a84-8a20-009a2bcbc7fc phenopacket.store:GNAS.PMID_25802881_P48 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8296cd9f-ed18-4f21-b03b-b2ad76a18273 phenopacket.store:GNAS.PMID_25802881_P48 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c994299e-0e8b-4258-93b0-f23c47a5484c phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7c0ec93e-da08-4550-92c5-9e02987256d7 phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9aacb298-46f8-41e3-b75f-f2d3646fbeec phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2a997f90-c4e0-4ad8-b34c-a2429ce0470e phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:fa26ad52-fe07-4170-81d5-208ac1e86870 phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:ccc89c11-c280-4d13-a36b-0d92504f6dc4 phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:ef22166a-3a0d-4942-9e5f-e2b0c17a4c62 phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ef716c9c-99a7-4af6-9ecf-45cc45d36951 phenopacket.store:GNAS.PMID_25802881_P62 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b71521dc-a588-435a-a8d3-80f3f769a6db phenopacket.store:GNAS.PMID_25802881_P4 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bdb911eb-a400-4f8a-bfe2-39a58f8962bc phenopacket.store:GNAS.PMID_25802881_P4 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3b02e3b6-fe40-4f1e-9635-42b4d2ec5afb phenopacket.store:GNAS.PMID_25802881_P4 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:0f44477c-68d5-42ba-888d-e582e765e4cc phenopacket.store:GNAS.PMID_25802881_P4 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:1dd5746e-6894-4612-902e-51d6f36382d7 phenopacket.store:GNAS.PMID_25802881_P4 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:54f47bb0-c3c3-4c24-bc0e-475285c78da7 phenopacket.store:GNAS.PMID_25802881_P4 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e10a93dd-e7bf-402b-8f39-6e2c34356281 phenopacket.store:GNAS.PMID_25802881_M21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5b8b2239-9496-4a39-bb4a-1d2b6b8cc4f3 phenopacket.store:GNAS.PMID_25802881_M21 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:046605d1-65d2-4c5e-8b51-95be177283b1 phenopacket.store:GNAS.PMID_25802881_M21 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:86833e95-b4b8-493a-a6bc-fe44617ed639 phenopacket.store:GNAS.PMID_25802881_M81 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a73f23bf-1e6e-44ac-8615-2703154d3276 phenopacket.store:GNAS.PMID_25802881_M81 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5bdea54c-6e37-43c5-9814-b2293cc45230 phenopacket.store:GNAS.PMID_25802881_M81 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8ab734b3-4dc1-4812-a61d-9b5fcfd539cc phenopacket.store:GNAS.PMID_25802881_M81 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8c236c91-31f3-4654-937a-084d11269fc7 phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:33095c06-db37-44ac-b246-248abd62b491 phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1804fc33-3566-47a6-9150-fa454f714c4e phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6403020c-e60f-413f-bcf2-cbab495e64e0 phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:63359c66-e9e5-405c-82d6-c54226421d89 phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e33eb1b7-fbd1-4e6c-ba55-29fa4c2de059 phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9bd64f7d-c3f1-4bce-b6f6-d9f2fb825191 phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b6786010-845f-461c-b6b3-f74d460ddcce phenopacket.store:GNAS.PMID_25802881_P57 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:83142790-2126-4039-9e1d-8357a25cc5b2 phenopacket.store:GNAS.PMID_25802881_P24 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:30cf6a0a-7d3e-4d20-b77c-354be93f933f phenopacket.store:GNAS.PMID_25802881_P24 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a7697fab-85d4-404a-aa7a-4694e686bc82 phenopacket.store:GNAS.PMID_25802881_P24 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4b3b09e4-613d-4333-9fa6-2e36e1727f64 phenopacket.store:GNAS.PMID_25802881_P84 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:4a76256b-1da3-45f8-9c47-705c7539ad00 phenopacket.store:GNAS.PMID_25802881_P84 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:07d034cb-a23f-4189-8ab1-ad532ffa5746 phenopacket.store:GNAS.PMID_25802881_P84 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:4385e094-0c89-4bf2-afd0-55676be59c37 phenopacket.store:GNAS.PMID_25802881_P84 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6d7b2ebd-62a9-42d2-8a6d-0c3ae31befec phenopacket.store:GNAS.PMID_25802881_P84 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:239cb451-019f-400b-82b8-87adaca73420 phenopacket.store:GNAS.PMID_25802881_P84 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:21e1ab78-b371-4268-a7fa-ea5108aeac53 phenopacket.store:GNAS.PMID_25802881_P12 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0c00f89a-224a-47d1-8f7e-9d718d61de07 phenopacket.store:GNAS.PMID_25802881_P12 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c7848377-5ae9-46ea-8812-5da993237de0 phenopacket.store:GNAS.PMID_25802881_P12 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:956e23fa-8228-45a1-b597-c93d5e00f17f phenopacket.store:GNAS.PMID_25802881_P12 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:48cf7d46-12cb-4b4f-b8c9-e791d82cda3a phenopacket.store:GNAS.PMID_25802881_P12 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:39bf31d3-6ebe-4d82-a73b-8766b7676555 phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8f065956-c5c0-4b28-9863-3ec5894a146b phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ec7cad99-414e-4310-8df8-54c5cc9a395b phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1c12d8a4-fef2-4dd8-8639-45f072db50d1 phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5bcfa72e-8e22-4cb6-b5ae-4fb4e7ae8ca8 phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c0575e7d-0ae5-4a47-8792-de9622de1ade phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a9bf7c17-bbdb-45f7-91d4-7b269efe5f42 phenopacket.store:GNAS.PMID_25802881_P11 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:93f4a28a-a07e-42b7-bd45-795a557fd1c8 phenopacket.store:GNAS.PMID_25802881_P85 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9b22c426-197c-4783-8736-6367bf4ee6f9 phenopacket.store:GNAS.PMID_25802881_P85 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3e5cde2b-5356-4fae-a2b5-de893e4d8eeb phenopacket.store:GNAS.PMID_25802881_P85 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:223e2ff2-5907-476c-a326-11ec2f78ebab phenopacket.store:GNAS.PMID_25802881_P85 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:65674f1c-7329-48d9-9e4b-70ef1a84cfb8 phenopacket.store:GNAS.PMID_25802881_P15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:be0de5c0-93c0-40c1-907d-2dd041fb2ae2 phenopacket.store:GNAS.PMID_25802881_P15 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:60318631-2653-46fd-b6e2-0fd085be8195 phenopacket.store:GNAS.PMID_25802881_P15 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:100ec78e-abaa-4321-98c8-4ab4bad2d3b4 phenopacket.store:GNAS.PMID_25802881_P15 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:cf6daa7e-8a55-4ce2-91cb-ee7cda7be42e phenopacket.store:GNAS.PMID_25802881_P15 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:944e60dd-f6ba-4756-b4ed-f5b5b824162a phenopacket.store:GNAS.PMID_25802881_P15 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:3bfb9987-4edd-4121-9536-f3ef735e2dc7 phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b21e5334-0847-4508-8e49-a77c6c2c1692 phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2d925e0d-3735-47e6-901f-ec055745e64f phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:a05b3aa8-3708-4753-8a6c-c71ea8613bdf phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:2c5b5a9f-7fbe-47d5-979a-b5445cb8cc90 phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:0191a4da-f565-4350-9cec-bb1c1a08e498 phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:0e2575e6-97da-4cab-91f6-f7edc6fb399e phenopacket.store:GNAS.PMID_25802881_P3 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f3fe6c7d-1375-45df-9576-2b3b03f4808b phenopacket.store:GNAS.PMID_25802881_M40 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e116fffe-060a-4e01-823b-de0a441ad400 phenopacket.store:GNAS.PMID_25802881_M40 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:805b6cc5-582d-47ca-b11f-46e2ab23bb2a phenopacket.store:GNAS.PMID_25802881_P81 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:78f4cbdf-4917-4e25-a8c3-86b4cfa79e7d phenopacket.store:GNAS.PMID_25802881_P81 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e3206d33-4721-4dd9-ab3a-65cc56632da1 phenopacket.store:GNAS.PMID_25802881_P81 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f88824d8-1564-45eb-9472-ff24d7cb8531 phenopacket.store:GNAS.PMID_25802881_P81 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c086736c-6115-4d4c-9c6f-06ae2a0e3130 phenopacket.store:GNAS.PMID_25802881_P81 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:be62247c-584f-4819-86b5-ec3ea3c7384e phenopacket.store:GNAS.PMID_25802881_P81 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:cb43e0bf-107d-4e3a-90c3-49d71763a0b4 phenopacket.store:GNAS.PMID_25802881_P75 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bb085e85-36d0-46ce-bbf3-735b125f0ac4 phenopacket.store:GNAS.PMID_25802881_P75 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:fd005f0a-f789-45ea-8240-1d15a6aca44c phenopacket.store:GNAS.PMID_25802881_P75 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1e683034-7037-4ff7-952e-4dd3960db26b phenopacket.store:GNAS.PMID_25802881_P75 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9922992b-4f22-4242-8055-2bd07694af7f phenopacket.store:GNAS.PMID_25802881_P75 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:72db34c7-c815-4911-b982-8a2bb1247a66 phenopacket.store:GNAS.PMID_25802881_P75 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b8d83cf3-ee87-46b2-8405-79f1b2cc18b4 phenopacket.store:GNAS.PMID_25802881_P19 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:73cb77bd-800b-4317-85c8-5c9f4d2971d4 phenopacket.store:GNAS.PMID_25802881_P19 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c891788d-2170-4c38-af5c-7b2ab3646d96 phenopacket.store:GNAS.PMID_25802881_P19 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:30f8284d-8502-4b78-bfae-681d9744b4cc phenopacket.store:GNAS.PMID_25802881_P19 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:9107b653-e6a5-4292-aee9-82f0ecdad650 phenopacket.store:GNAS.PMID_25802881_P19 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:2e28ea34-289e-4180-aa2f-e0fcfc2ad008 phenopacket.store:GNAS.PMID_25802881_M20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8456c73e-e0d7-4131-b7d2-070b48432864 phenopacket.store:GNAS.PMID_25802881_M20 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6c1a37a6-1b77-421a-b2c0-8e46753e3f46 phenopacket.store:GNAS.PMID_25802881_M20 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a326e5d9-e9f6-45ef-918d-914ff1baf19d phenopacket.store:GNAS.PMID_25802881_M20 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b6d5f8e9-8104-45e3-a979-f0c09006bac1 phenopacket.store:GNAS.PMID_25802881_M20 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:efe1f63a-7b5b-4034-aef1-22302ae66c39 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:16475b09-73fa-43f3-a636-c9c8da07ff37 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:76d48d62-b11f-46e0-a69c-9dc35d52c62f phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a26eadf7-2c86-44c5-9883-8d60f025c650 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:eb57902f-ec27-4579-9686-c2e15027c125 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:96ace253-4d9e-4297-b2ad-a842fc4ac628 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7dbda12f-18ea-440f-9198-d52468abe678 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:48adebd6-6055-42ce-85eb-1207a4efeaf1 phenopacket.store:GNAS.PMID_25802881_P37 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:66844810-8b39-4402-ac76-3f46ff85f037 phenopacket.store:GNAS.PMID_25802881_P86 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:19ddccc1-830e-4c42-b4e0-a1c4927f8515 phenopacket.store:GNAS.PMID_25802881_P86 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ce045691-56a2-40a6-857e-0abd828de7fc phenopacket.store:GNAS.PMID_25802881_P86 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:cbf747f4-0c95-469e-a879-7571aaa11cde phenopacket.store:GNAS.PMID_25802881_P86 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:9ea4759f-d26d-411e-9b63-76dfd9e553f7 phenopacket.store:GNAS.PMID_25802881_P86 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e247d0e2-f0a0-4bc0-b58e-da743ad1ee57 phenopacket.store:GNAS.PMID_25802881_P86 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:d08d95a6-2efa-4194-a8e3-904a66ec940a phenopacket.store:GNAS.PMID_25802881_P25 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e8285a8e-eecc-4794-a7dd-4045292b3899 phenopacket.store:GNAS.PMID_25802881_P25 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:05d8a306-acac-4549-96a6-a0993f7161a1 phenopacket.store:GNAS.PMID_25802881_P25 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:705eb250-a0cb-4b27-b2a1-6dd5cf0efce4 phenopacket.store:GNAS.PMID_25802881_P82 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5a6436f5-d41e-4bc3-bc6e-06c97a79766a phenopacket.store:GNAS.PMID_25802881_P82 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:60544482-366b-4e3e-b552-1e1ffdb6956c phenopacket.store:GNAS.PMID_25802881_P82 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bf943234-0f8f-4dc4-811f-4cfadefd08d5 phenopacket.store:GNAS.PMID_25802881_P82 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f1643e45-2900-4342-8842-6f3fa0793fa2 phenopacket.store:GNAS.PMID_25802881_P82 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:488f59a7-7652-471f-a4de-6c1725e3516b phenopacket.store:GNAS.PMID_25802881_P82 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a2bb82d6-e862-4dee-9247-d935087a5768 phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:291553c0-97ba-41d4-b73c-68c324a7858f phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:57737537-d5f4-494e-a776-dc99122e7dc0 phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9e1c3afb-eacc-49b0-a889-335eeabf2053 phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e08e8d24-22fb-4995-b796-d6f042b20dd4 phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0e4a6980-d76c-4d4c-9244-0a0cfa80f383 phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:142fb6f0-dc0e-4844-a520-6bd0d946c131 phenopacket.store:GNAS.PMID_25802881_P46 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c5ebacfe-f0c8-4389-bb45-9b114b6cc3f0 phenopacket.store:GNAS.PMID_25802881_P14 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d9656b2f-f213-428f-978a-b4d16fc296ff phenopacket.store:GNAS.PMID_25802881_P14 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:4a917c35-7651-41d8-b8a0-fb68737f4d7c phenopacket.store:GNAS.PMID_25802881_P14 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:17ffdb13-d2a6-4cf4-a748-c2d0305008d0 phenopacket.store:GNAS.PMID_25802881_P14 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:250efa36-e013-496e-8bcd-022efd50e89a phenopacket.store:GNAS.PMID_25802881_P14 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:902aae2f-14ca-4289-8948-911236ebb4e3 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:21677239-a73d-4eed-a24b-d4ddc56d68a8 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:20fef5b9-72f3-466c-9b5f-a29811acc11d phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5f7e433e-e015-438d-aef6-43b64bb44ac6 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:604fc8aa-45c4-463e-a6db-faf5b0c741d4 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ed9eae20-adec-4b9c-999a-04b06892e2f3 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:72f3ffa0-2035-4338-b458-b8ee4a424e54 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:45ff8a4b-8c94-490f-b57f-b77d803da8cb phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ea207c8c-ea8c-4668-8f27-d49f9130a802 phenopacket.store:GNAS.PMID_25802881_P76 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c85b6024-2bc0-4127-ae44-15c9a18917ab phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:28626c28-5257-4174-a0c0-b935b6a607fc phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e2ddd43d-8a25-4760-908b-a70c58d7d7dc phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c02d272f-c8b9-4252-b5fa-55b906900ab9 phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:23c30894-4178-4e85-b8cb-a580b09697d6 phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:33703287-aa97-4401-8829-7ab61fbc9515 phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:473dd0d6-c82e-40f6-8898-933df3fd812e phenopacket.store:GNAS.PMID_25802881_P34 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:727ffc07-0d36-4569-8f8b-ccef95155b5c phenopacket.store:GNAS.PMID_25802881_M10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:25518641-236d-4651-a072-a77a3bafd9d7 phenopacket.store:GNAS.PMID_25802881_M10 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:43ba4dce-381d-4bf5-96fc-79245d9513cc phenopacket.store:GNAS.PMID_25802881_M10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9d5bf297-1f97-4c8d-bddb-554d4257b840 phenopacket.store:GNAS.PMID_25802881_M10 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:5421f540-ced0-49cb-ad4e-33ca8f9a9587 phenopacket.store:GNAS.PMID_25802881_M10 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ab18ef45-a25c-48b6-9965-dad55b68ff46 phenopacket.store:GNAS.PMID_25802881_M23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5794b552-d0e4-4cba-bf6a-ed89f73916d1 phenopacket.store:GNAS.PMID_25802881_M23 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:879f3847-0b31-4073-b3ea-656e5315ba3c phenopacket.store:GNAS.PMID_25802881_M23 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:5ca1506f-cc65-4c3b-af53-f4b4231f4a4c phenopacket.store:GNAS.PMID_25802881_M23 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1eedb5bf-9252-4a20-9a30-492d038db094 phenopacket.store:GNAS.PMID_25802881_P10 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:11474385-ed7e-487c-96de-08a54c57cfd0 phenopacket.store:GNAS.PMID_25802881_P10 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:f12a8885-d9a3-4816-aaea-f59c9d5c8f56 phenopacket.store:GNAS.PMID_25802881_P10 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:5c263342-563a-46ed-99af-1da4293550d2 phenopacket.store:GNAS.PMID_25802881_P10 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:69201781-5806-4185-bdaa-5dadbbebbb86 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1882643a-4a10-42fe-858b-02ef5007b38a phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b50d4c43-471f-4f77-a17c-9bebe01ab3d2 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7db97923-ae8a-4027-bb9f-f46ca4ed5dc8 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:780b06f5-0a6b-4a10-be05-b0c351b37a76 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:d03707bd-e26d-4f1a-829c-0cd08f9e03f1 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:ddb1ab81-5396-4e86-82e1-18f37e833e91 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:84df5202-e6e1-4ebc-b35f-7dc6ddbc0968 phenopacket.store:GNAS.PMID_25802881_P33 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f3f070c4-8421-49f2-8c82-30bfbcb4f032 phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1f5655cf-1ee9-4231-8d01-066d7345f19e phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:dc91bb90-b058-4f95-95c4-49f02bce86a0 phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f3abb56f-7ec9-4134-a5ce-788a25bb2c26 phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0727b71b-9e77-4e89-bfd2-3dac3ee3cd10 phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:edd2789d-9a30-4e61-8522-b7f703ed1a02 phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:cc642f4e-ac3a-4c4e-b95c-75f55e04fc6b phenopacket.store:GNAS.PMID_25802881_P54 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:798aa475-3d9a-49ed-9112-f0c3087399ab phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:80eb2d0f-5b78-47b3-86a5-c67d73e170c4 phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b8c836c3-9699-486f-bc21-0ebf30ddb4ee phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:455fc835-37f0-4fb8-8b09-4701fd813abf phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:44290dc2-38ad-4c6c-a51d-fa4c77044d6c phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d942ed1b-ba60-490b-9c4d-d8873f8c01b5 phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:5ef4b0be-decb-4f7b-9acf-f36cd351f50a phenopacket.store:GNAS.PMID_25802881_P78 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:30c90af8-9e4f-4b35-aa9b-cefe48577812 phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:fec20b67-2801-4bc3-9d2f-1464b4ab132f phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:dd14fc00-ff0d-4afe-aaa5-ccd38df0c0ea phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:01a84548-4c42-4b1a-a2d6-491288ecd504 phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3495645c-0984-4b2e-a662-54acf3de47ea phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:0848778e-97e7-4f17-817e-ae9fd5e5b75b phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:b086bf8e-9776-4a54-9e86-ee2c327e7a19 phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1d2acf51-f6db-46aa-92fc-a0607b8874f4 phenopacket.store:GNAS.PMID_25802881_P68 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:429364d7-8b5a-43ee-8aa6-336694e8673d phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e0eeeaec-632a-4132-bd32-e41d25021619 phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1d637faf-6330-4da2-af7f-e4cd68ca4316 phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c37f9060-712a-460c-9f20-86dc1ea83c87 phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:71cd45f7-56c4-4505-8b22-f93e4af5a7ec phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:233e58e2-8e5f-4379-bb8f-4c8c5bb3a122 phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:43adb5b0-64af-478d-b82a-f2f3687313b3 phenopacket.store:GNAS.PMID_25802881_P29 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e8b091d6-7a1d-433f-bd90-d4188e2e9488 phenopacket.store:GNAS.PMID_25802881_P73 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:999b4636-d1df-499c-ab59-a71904880038 phenopacket.store:GNAS.PMID_25802881_P73 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3d6498da-8cd7-4ccd-b693-4a80c87be38d phenopacket.store:GNAS.PMID_25802881_P73 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f36053fd-ec66-46ff-bd14-47ea91228d30 phenopacket.store:GNAS.PMID_25802881_P73 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:67acd8f4-0e00-476f-a291-b22ae58b71f2 phenopacket.store:GNAS.PMID_25802881_P73 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a4ee03f1-3a62-49c1-b254-017f6c2083ee phenopacket.store:GNAS.PMID_25802881_P36 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6fea20aa-275a-42ef-8027-f3081a21b548 phenopacket.store:GNAS.PMID_25802881_P36 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:aae5a6d9-473b-4277-b88e-9448d6c8cdd9 phenopacket.store:GNAS.PMID_25802881_P36 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:42196642-cf93-420d-9a28-0c27e44d7973 phenopacket.store:GNAS.PMID_25802881_P36 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:44b120a3-fb13-4b80-94da-d9cc118d1939 phenopacket.store:GNAS.PMID_25802881_P36 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:70bd16f0-a5b1-4c43-8acb-2a7e97410290 phenopacket.store:GNAS.PMID_25802881_P87 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1128c5c0-4399-4536-805d-1d62f57ae4c6 phenopacket.store:GNAS.PMID_25802881_P87 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:41ece88f-4e32-40be-bfe4-c303f6cf3b3e phenopacket.store:GNAS.PMID_25802881_P87 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c4bfc81a-9bb4-4c19-bfc6-d76f85b0dbec phenopacket.store:GNAS.PMID_25802881_P87 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:142e8ba8-5d7c-4c77-91bd-53c52d929520 phenopacket.store:GNAS.PMID_25802881_P87 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:2169d090-6444-47f0-9133-e4135740eb97 phenopacket.store:GNAS.PMID_25802881_P66 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:24c8f40b-64c8-4c4e-b87f-b322d73f8304 phenopacket.store:GNAS.PMID_25802881_P66 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9c310b64-7272-4797-bcf9-249cb13fb0af phenopacket.store:GNAS.PMID_25802881_P66 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8f2120ce-ed51-4c5b-a879-ef2000ade568 phenopacket.store:GNAS.PMID_25802881_P66 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b394fb6d-e46f-4765-a042-1a5491f722cd phenopacket.store:GNAS.PMID_25802881_P66 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b671f1c8-602f-4b3a-ada1-bbd20bc08864 phenopacket.store:GNAS.PMID_25802881_P66 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f04f5c67-fb0c-42b0-a640-73d5a20dfdfd phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:44f6fec4-9f37-429e-aea9-edd66d4771f8 phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0cefee17-13e5-418d-8cf4-fcf811b80b19 phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:51ca7ea2-7cb4-48b5-966c-d74c47e15b8c phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0292203e-ae02-49aa-8907-8d00a78e4da5 phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6b11578d-2e39-40e2-847e-75322ed8c495 phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7a62decb-2ebf-4ee8-9ea4-402ba5e5d492 phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8769ef6e-e521-426c-893b-dcc5ebc97cec phenopacket.store:GNAS.PMID_25802881_P59 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:6b38efc8-7f3e-4a08-a929-95d923ef3a85 phenopacket.store:GNAS.PMID_25802881_P38 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a51bdc39-4be7-46ab-97e6-e9d70c6101a9 phenopacket.store:GNAS.PMID_25802881_P38 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:90b6706b-35ab-4f7b-b3d2-4c7785075c84 phenopacket.store:GNAS.PMID_25802881_P38 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3b74b863-3ad3-4e31-bd15-a5f598cdd8d9 phenopacket.store:GNAS.PMID_25802881_P38 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1de07d70-db7e-4767-b6f1-767d3f5282ee phenopacket.store:GNAS.PMID_25802881_P38 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:3a9cb55c-dd74-4551-9414-bdd070b5b537 phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b938d6e4-538e-428f-8135-b2f324c5b8bc phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a2a0ff81-f43c-499b-b432-ac02df2afe8c phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:eff7bbc5-770f-4621-bb98-f6713e9d4615 phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ea638cfa-4b4c-47b0-8479-6558291d0569 phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9c127e9b-28a9-4b3d-9cef-2f94885193bd phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:53ecbeb7-1b84-45fc-b1c5-98db2fe2b971 phenopacket.store:GNAS.PMID_25802881_P26 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4a0708c3-5b64-4f98-ba67-7f1f159729a6 phenopacket.store:GNAS.PMID_25802881_M57 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a6fe6563-d5bf-4c49-bd40-83ceba730453 phenopacket.store:GNAS.PMID_25802881_M57 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e44d7e0d-dc99-47e5-9984-199a76783e52 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:74299132-9916-4837-ae13-63b849ca0b04 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2a12aa8d-a8f2-49c4-8e28-2a22706a2824 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:95f0605d-9e29-4d9d-a0d2-154e84503883 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:77488a50-ba1f-4013-9f58-7b71aaa36f86 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b75be2fe-9aab-4e46-b39f-eb1982c28a97 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:fb118153-f3b0-4c2c-8e93-aa8013db9239 phenopacket.store:GNAS.PMID_25802881_P88 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:599f864f-3058-4863-b77e-1ffc4cbd4baf phenopacket.store:GNAS.PMID_25802881_S40 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1b43cbfc-fba8-40ec-bf7e-89f75af4409e phenopacket.store:GNAS.PMID_25802881_S40 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:44b4674c-725e-4329-afb2-66872380ee3f phenopacket.store:GNAS.PMID_25802881_S40 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:912d3159-0db0-4e98-bf57-58cc57b4dd92 phenopacket.store:GNAS.PMID_25802881_S40 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4442ca9a-842b-4acc-8529-084c816db3b1 phenopacket.store:GNAS.PMID_25802881_P9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9d6c4996-0310-49fa-b274-01427a9e0cba phenopacket.store:GNAS.PMID_25802881_P9 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:67097371-6094-4a45-a23d-63fdfdc24da9 phenopacket.store:GNAS.PMID_25802881_P9 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:c290c2cb-1355-4617-b4e0-2ce518b4b496 phenopacket.store:GNAS.PMID_25802881_P9 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:61c9d7ce-c26c-4a8a-9665-5054dff72db9 phenopacket.store:GNAS.PMID_25802881_P9 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:9f9a4c18-86b1-4430-9d7f-0268ca9d3513 phenopacket.store:GNAS.PMID_25802881_P27 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1f1549eb-ce65-468f-a493-64bd259b6caa phenopacket.store:GNAS.PMID_25802881_P27 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e3ab58a6-d431-48ae-8c8b-6f8f4e83ec4c phenopacket.store:GNAS.PMID_25802881_P27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a7dd8bd2-4055-4a78-a263-c5487167a9c2 phenopacket.store:GNAS.PMID_25802881_P27 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0eda5529-efe2-44c2-8717-eff992936fb2 phenopacket.store:GNAS.PMID_25802881_P27 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:9a1f3a63-99d5-457e-ac2d-aa222f4a63f4 phenopacket.store:GNAS.PMID_25802881_P27 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a41b9d32-1ba7-45d4-809d-5a4295bbfc40 phenopacket.store:GNAS.PMID_25802881_M73 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:575324cf-facf-4469-bb3b-a3ce23f5129d phenopacket.store:GNAS.PMID_25802881_M73 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:5aa2cd71-ec87-4d79-904d-70bd39d199b1 phenopacket.store:GNAS.PMID_25802881_M73 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ea0cfe65-696f-486a-9c97-cfbcc2d1c3f0 phenopacket.store:GNAS.PMID_25802881_P23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:52d936f6-ca29-40e9-9434-0b1acfc48cb9 phenopacket.store:GNAS.PMID_25802881_P23 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0cbf6707-44ad-42ad-94b1-d527be3ea712 phenopacket.store:GNAS.PMID_25802881_P23 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:32e9548d-d65e-42ba-83df-9f5a9927bf07 phenopacket.store:GNAS.PMID_25802881_P23 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a7491c67-66c0-407e-ba3f-0cea907bed8c phenopacket.store:GNAS.PMID_25802881_P23 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:cf11dc09-13d4-4759-a8b3-bc430fa614c7 phenopacket.store:GNAS.PMID_25802881_P23 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:157065c5-4f34-4cae-b38f-c2015e234402 phenopacket.store:GNAS.PMID_25802881_P40 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e844dad0-a48f-4585-b714-caae2453f0f1 phenopacket.store:GNAS.PMID_25802881_P40 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:60c34694-6ca0-4171-b53b-c3bf7e5c304c phenopacket.store:GNAS.PMID_25802881_P40 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b97a4594-11f5-4082-8ef9-525994fb6fe0 phenopacket.store:GNAS.PMID_25802881_P40 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b088554d-c84c-4176-9c5b-8d6a6d48f47f phenopacket.store:GNAS.PMID_25802881_P77 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:088ea0df-b1fb-4907-9326-a7c2be012a43 phenopacket.store:GNAS.PMID_25802881_P77 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ad1cb452-3b9a-4bdb-a2fc-3105b1f24c2d phenopacket.store:GNAS.PMID_25802881_P77 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:119c3b26-50f4-42e6-8f02-94df4a64058f phenopacket.store:GNAS.PMID_25802881_P77 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:31f30045-c02a-420c-847d-fd47cdd85aab phenopacket.store:GNAS.PMID_25802881_P77 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8e4f0d48-f147-4cab-b13c-e7a4cd764329 phenopacket.store:GNAS.PMID_25802881_P77 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:09f03f2c-2932-4bf4-ad28-f2e7bdf89f8a phenopacket.store:GNAS.PMID_25802881_M56 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:294a9b16-2ff7-49b9-9948-8d9b49ea9003 phenopacket.store:GNAS.PMID_25802881_M56 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4e5364a1-0337-4630-95d5-25be99d8dff6 phenopacket.store:GNAS.PMID_25802881_M56 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:cf159ab4-87c4-4413-81a7-b576157c1a0b phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3f596b19-fcf0-48b5-a48a-30b160849b54 phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e0506a17-7239-4088-aec1-b6f2a1ab7314 phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b53922f6-4335-4dfe-b8a5-a098a5e7f0f8 phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7f1e7ef2-e464-42b9-8038-b77b4e6b47e6 phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bfb0fe68-62bc-4028-b731-750231108c29 phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:520cb456-fedb-494a-a5ad-385a50e45ace phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:7690744e-c56a-4465-b813-84d984d1f6a2 phenopacket.store:GNAS.PMID_25802881_P7 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:19b4cf03-656c-4488-9f3e-d4e307ea57d6 phenopacket.store:GNAS.PMID_25802881_M8 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:46cb29d7-d890-48ff-9cfb-c2bcc177f6bc phenopacket.store:GNAS.PMID_25802881_M8 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1db011a5-71fc-4868-a2b3-f9f4a71fb39f phenopacket.store:GNAS.PMID_25802881_P47 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b4cab1c6-1262-4430-bb9c-a8a00e589cd7 phenopacket.store:GNAS.PMID_25802881_P47 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:21c1f467-ce30-46e7-ae5a-c574f14bebfc phenopacket.store:GNAS.PMID_25802881_P47 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:67970266-8d0c-4f50-ac46-f34ff26e6106 phenopacket.store:GNAS.PMID_25802881_P47 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c83e9215-cdc0-436f-97ec-359aebfb9a1a phenopacket.store:GNAS.PMID_25802881_P47 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:7c37b0bb-8c4c-49ad-8789-9ab6eb5dcd26 phenopacket.store:GNAS.PMID_25802881_P47 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4740e8d2-4846-468e-b1b2-6e359bd00cac phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d0276bf1-b113-416e-954d-0316d0e4c0cd phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e2756cfb-0d1e-41c8-be42-4ea8de25b86f phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:804bab77-c5e6-47f7-9c4e-f586673ea65c phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:b9960ce2-2c07-4d69-964f-caaf80ee044b phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:11ad5fe4-df22-4c3d-851f-eac4ed35949d phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:fdd4e6be-6e01-4367-b088-69c8110af7ff phenopacket.store:GNAS.PMID_25802881_P60 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1a154d46-9332-4de4-b1d1-b5b21142618b phenopacket.store:GNAS.PMID_25802881_M74 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:39aedab3-59a8-4af8-9890-d77c92e88ef0 phenopacket.store:GNAS.PMID_25802881_M74 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0b049774-2292-4714-ae6e-e970762c68e1 phenopacket.store:GNAS.PMID_25802881_M74 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0bd446cd-bf57-4cf9-bf7f-cffe38710bb9 phenopacket.store:GNAS.PMID_25802881_M74 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:001cc63f-e460-4537-9839-216453393fe0 phenopacket.store:GNAS.PMID_25802881_M74 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b41370dd-1ddd-48a8-8c66-0649770925de phenopacket.store:GNAS.PMID_25802881_P13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d12e1eda-3de1-4b6d-a7d0-6e105b047e9d phenopacket.store:GNAS.PMID_25802881_P13 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ba8861a9-58cc-4105-b987-b64e2506b7d6 phenopacket.store:GNAS.PMID_25802881_P13 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:4ec891c5-167c-4774-9cc2-261b084e301f phenopacket.store:GNAS.PMID_25802881_P13 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:59490c43-aa64-4411-8601-97c73fed9829 phenopacket.store:GNAS.PMID_25802881_P13 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:835a12aa-fe91-4694-9252-439ef0502b53 phenopacket.store:GNAS.PMID_25802881_P13 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:3a2c501b-0508-4415-bb86-2ee6d7067300 phenopacket.store:GNAS.PMID_25802881_P32 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ccf72b38-47da-44d9-b583-ae5f0fb72d45 phenopacket.store:GNAS.PMID_25802881_P32 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:38baade2-3b0b-41b5-a8ec-2af0f4785167 phenopacket.store:GNAS.PMID_25802881_P32 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8b923ed0-8367-456e-88d0-14fcccf08ae8 phenopacket.store:GNAS.PMID_25802881_P32 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:991e817a-03d5-4826-8539-3da86f5e83b3 phenopacket.store:GNAS.PMID_25802881_P32 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:0d772432-0df6-4407-8fe2-15d4630f8553 phenopacket.store:GNAS.PMID_25802881_P74 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:990a76e2-36d3-4b4a-9a8a-42eb94c05115 phenopacket.store:GNAS.PMID_25802881_P74 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:218bc64f-c2a4-46fb-b2b0-978a0401c90a phenopacket.store:GNAS.PMID_25802881_P74 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d56efa21-47f3-4e1f-83b1-4fadaeb3f5de phenopacket.store:GNAS.PMID_25802881_P74 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e95dac8a-de76-4ecb-850a-0623a78a32f9 phenopacket.store:GNAS.PMID_25802881_P74 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:09004798-bb30-4435-a6d7-829d77e17041 phenopacket.store:GNAS.PMID_25802881_P74 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:56e1ee0c-ac71-47da-aa42-fab25b7d7600 phenopacket.store:GNAS.PMID_25802881_P31 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ba81cf6e-00ab-4e89-acfd-83642c7d3ed0 phenopacket.store:GNAS.PMID_25802881_P31 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bfdf7393-f781-4ab5-b8e0-3a9e0ca06282 phenopacket.store:GNAS.PMID_25802881_P31 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7f86cb77-f02d-49b0-9190-2e3c124a7259 phenopacket.store:GNAS.PMID_25802881_P31 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d49fa1d6-509e-4a16-aed4-95753d79bf7d phenopacket.store:GNAS.PMID_25802881_P31 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:2e5a2b65-7c84-46de-b606-b214378d91d4 phenopacket.store:GNAS.PMID_25802881_P31 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:acdb2479-95ba-45c6-8d7b-f70408831b2d phenopacket.store:GNAS.PMID_25802881_P80 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ea46528b-6916-4c5b-8b6b-41246c2fc1df phenopacket.store:GNAS.PMID_25802881_P80 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ffb94b03-b9d0-4a8d-bc57-9c1436da6c07 phenopacket.store:GNAS.PMID_25802881_P80 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:230eea62-d5f3-46bd-8187-d955a839e45f phenopacket.store:GNAS.PMID_25802881_P52 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:27604ae4-f1db-4cef-acf3-c8b0a8d64398 phenopacket.store:GNAS.PMID_25802881_P52 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:91495770-1bc4-4c24-88eb-50e55abae928 phenopacket.store:GNAS.PMID_25802881_P52 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f3013d23-0055-4584-927d-3210533cd18e phenopacket.store:GNAS.PMID_25802881_P52 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6307d57a-d6f0-4299-abde-8a3e2756fd00 phenopacket.store:GNAS.PMID_25802881_P52 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:2c2f5599-d1a0-4a34-9d1b-e6ff7c36d1ba phenopacket.store:GNAS.PMID_25802881_P52 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:52361160-e07e-4fb5-a9b5-90870b79565d phenopacket.store:GNAS.PMID_25802881_P71 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:fc537079-7d45-4a09-819c-5477346ac3cd phenopacket.store:GNAS.PMID_25802881_P71 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:caebd289-a231-48d4-9a2b-01dffeb3c6b4 phenopacket.store:GNAS.PMID_25802881_P71 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:884b06fa-0d5d-4ba6-a24f-4313d8f4258d phenopacket.store:GNAS.PMID_25802881_P71 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:76623f46-d2b3-4409-bf43-403b325a177b phenopacket.store:GNAS.PMID_25802881_P71 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e8ea4b92-0673-4f10-93ca-e18e1fffcf9a phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a65ef615-b776-4524-8273-97f98304b948 phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b6b2075c-ef87-4452-a9e9-a03a43324432 phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:24cb8d9a-1f4c-4f0b-8dce-96fc839a1c76 phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:42c740f1-7b81-4b45-8428-52315d139f15 phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:4669a159-af30-4252-bce5-9eca259b990b phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:66a0957e-e719-4eb1-b384-974ec513bd1c phenopacket.store:GNAS.PMID_25802881_P39 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:6845a3b5-9fe7-4c61-aca0-e90c24183a5d phenopacket.store:GNAS.PMID_25802881_P65 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8545a157-9eb1-4724-aab0-2ca4a548aceb phenopacket.store:GNAS.PMID_25802881_P65 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a1a09d64-738e-4548-89d5-307ef69ae4ee phenopacket.store:GNAS.PMID_25802881_P65 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9d940f2d-0963-4fa5-a017-7557c852372c phenopacket.store:GNAS.PMID_25802881_P65 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c51d926f-b970-4738-b025-a1a309835086 phenopacket.store:GNAS.PMID_25802881_P65 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f3ed7c85-534b-49fd-92dd-4b17ed0c7f16 phenopacket.store:GNAS.PMID_25802881_P65 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a78670e1-f9d4-4c4d-8fdc-078378ffe7d5 phenopacket.store:GNAS.PMID_25802881_P2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:c2ec2693-6d4d-4c62-ad6e-adcc0b1bbcbe phenopacket.store:GNAS.PMID_25802881_P2 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:68399dad-35af-4415-b291-82665645eb34 phenopacket.store:GNAS.PMID_25802881_P2 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:99d9afa0-f501-4a56-8074-aff69535ea87 phenopacket.store:GNAS.PMID_25802881_P2 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c52b532f-5392-4225-9898-89739e1c56a8 phenopacket.store:GNAS.PMID_25802881_P2 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f1f78fe3-13c9-4613-bf91-3e5b03066cb7 phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ce257b9d-fd4f-4c44-ba37-c68f8453c749 phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:03bca3f4-bbec-436b-9c00-94717d99c737 phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:cadce0fc-02c5-44b7-824c-51c45534915b phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9f2f017d-d14e-423b-a9b6-9a030b8a7817 phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:907a0ce7-f7ce-4839-a811-198abfd141b8 phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:98836a78-d31b-4bed-aaad-4fe31d6c92f1 phenopacket.store:GNAS.PMID_25802881_P50 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:0d06ba9f-34aa-41e5-826f-3045c9734f56 phenopacket.store:GNAS.PMID_25802881_P49 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5a8de356-2c24-4237-9a63-3a1bb0998e0c phenopacket.store:GNAS.PMID_25802881_P49 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ac449c87-d903-46d1-9a3d-2223bc1b761f phenopacket.store:GNAS.PMID_25802881_P49 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:fca45810-8b9a-4ac8-83aa-7f4b8354d609 phenopacket.store:GNAS.PMID_25802881_P49 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0aa540ce-effe-48ac-960e-cf56fd4d2c95 phenopacket.store:GNAS.PMID_25802881_P49 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4656cacb-f49a-4f01-a709-15e66f403b1a phenopacket.store:GNAS.PMID_25802881_P49 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:de50189f-b290-4479-b2d4-82116f63b7ca phenopacket.store:GNAS.PMID_25802881_S82 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:39d2f0ef-6e83-4418-bc25-93b3a7ecb9c0 phenopacket.store:GNAS.PMID_25802881_S82 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c3e976f4-fac9-472b-8ee9-3f81d6f01102 phenopacket.store:GNAS.PMID_25802881_P58 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b7d16fda-4591-48f8-b211-83e7dabf1776 phenopacket.store:GNAS.PMID_25802881_P58 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bfc645df-687a-4106-bb49-4085b6c67bd9 phenopacket.store:GNAS.PMID_25802881_P58 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:2141af3f-9e9b-470a-8f7f-79cfc20057c3 phenopacket.store:GNAS.PMID_25802881_P58 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:d8c918b4-8426-4588-93e1-361bc4aeb6c7 phenopacket.store:GNAS.PMID_25802881_P72 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:03ac2c96-5c69-458f-8ef1-763cd7105632 phenopacket.store:GNAS.PMID_25802881_P72 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:39c51109-14d8-4be0-bc3e-647f36ce5d9f phenopacket.store:GNAS.PMID_25802881_P72 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1c343048-7c09-47c9-befe-5ee9cd99375b phenopacket.store:GNAS.PMID_25802881_P72 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f2917bcd-9f60-4485-afbf-9c4f98c80604 phenopacket.store:GNAS.PMID_25802881_P72 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b4b1d810-4e86-4ff4-9010-2e6dfd57b694 phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d0717044-a3c1-4b2b-a0ac-272125d38ad5 phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:76a158d0-08c6-46bd-986c-50fdb196b0e4 phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f1508136-9cb8-4b7b-bbf3-982f3dd40583 phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:82c03cfd-72bc-4666-b317-0c50f206a764 phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:010b5090-9b05-4459-9041-d9cdb052fa5a phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:57beb0c3-a448-447f-b225-fccfcf48af21 phenopacket.store:GNAS.PMID_25802881_P28 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:df7f1024-42db-4a05-99c0-eaed9ef26433 phenopacket.store:GNAS.PMID_25802881_P55 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5a6fb7bd-6559-4116-8ac2-185a8934804a phenopacket.store:GNAS.PMID_25802881_P55 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0e32807a-2748-4e07-b311-411118f3ef0c phenopacket.store:GNAS.PMID_25802881_P55 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:394d6f24-29be-4b89-990d-80c839bf280c phenopacket.store:GNAS.PMID_25802881_P55 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:6ccd2385-1a52-4254-848b-6f0b4f41e993 phenopacket.store:GNAS.PMID_25802881_P55 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:dadc7799-7a9f-42ad-bc32-a3b80bcd56d8 phenopacket.store:GNAS.PMID_25802881_P79 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2c2df4b3-4140-4846-b2e9-89d259b8d6de phenopacket.store:GNAS.PMID_25802881_P79 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:73253bfa-85ae-4a47-a511-4b383b2693e2 phenopacket.store:GNAS.PMID_25802881_P79 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:4e98dd98-0b7a-4326-b505-401e92a38d0b phenopacket.store:GNAS.PMID_25802881_P79 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b5bb32e9-7f01-4235-a960-1189e9f62f41 phenopacket.store:GNAS.PMID_25802881_P79 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:8ff490d2-cd6b-4671-96f1-1384cc2c08ec phenopacket.store:GNAS.PMID_25802881_P61 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:89ef7dc5-b6eb-490f-b417-b189a7a58b2f phenopacket.store:GNAS.PMID_25802881_P61 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a1f7e58d-2684-4f3b-b570-5b11dad17d1f phenopacket.store:GNAS.PMID_25802881_P61 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5ce95e34-d883-4f33-b4e6-b2c6ab51e833 phenopacket.store:GNAS.PMID_25802881_P61 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7f041bac-e0e7-48ae-aaea-9fe13f7e4f11 phenopacket.store:GNAS.PMID_25802881_P61 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:202acb6a-96c6-40dc-bb94-42b2ac5aa642 phenopacket.store:GNAS.PMID_25802881_P61 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e7e89da8-40a6-4994-a1ae-784c2883b47e phenopacket.store:GNAS.PMID_25802881_P43 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:75ef8000-2b1e-4a76-8010-3a410aa8cd8d phenopacket.store:GNAS.PMID_25802881_P43 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:75abe7bc-a086-4b50-be26-6f7c463e3cee phenopacket.store:GNAS.PMID_25802881_P43 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:cf258a55-b780-49b3-acdc-1668b3436b70 phenopacket.store:GNAS.PMID_25802881_P43 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:7c574d59-8786-497e-8f54-f1fcaa293e72 phenopacket.store:GNAS.PMID_25802881_S8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1496ab0f-d09b-4372-a1cc-321a3b345982 phenopacket.store:GNAS.PMID_25802881_S8 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6c989c1c-8141-4221-a23b-e2a94c6f7426 phenopacket.store:GNAS.PMID_25802881_S8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ac732629-ff51-4395-a66b-328603146871 phenopacket.store:GNAS.PMID_25802881_S8 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:0aecb222-ad85-447f-8d4b-c5a3eb24384c phenopacket.store:GNAS.PMID_25802881_S8 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:9dd7e9a8-0c4f-4426-9dc8-e505881a8f8b phenopacket.store:GNAS.PMID_25802881_S64 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:cff8d98b-86d8-4a7f-b135-094b10dc51ad phenopacket.store:GNAS.PMID_25802881_S64 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ec0a0285-9f27-4e4b-ac2e-d0cb9425abfd phenopacket.store:GNAS.PMID_25802881_M82 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:c9e1f49b-f91e-4e7e-a5c2-7e01079295e2 phenopacket.store:GNAS.PMID_25802881_M82 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ea9bd1ba-06c1-4f50-ae52-974e3c8d0bcf phenopacket.store:GNAS.PMID_25802881_P17 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7082b00d-d9af-4f3b-b12e-1610ce33fd54 phenopacket.store:GNAS.PMID_25802881_P17 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:b7ca6021-ae33-4a25-87eb-0247cad58c52 phenopacket.store:GNAS.PMID_25802881_P17 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e72dfd8d-f194-4b69-8171-c9d788f39800 phenopacket.store:GNAS.PMID_25802881_P17 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:caee4c04-1f37-48cc-91d1-a2b2bb857a9a phenopacket.store:GNAS.PMID_25802881_P17 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:7651e932-613e-42fe-8904-6a61a03a4365 phenopacket.store:GNAS.PMID_25802881_P41 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:06247dfa-0fe5-4760-a958-53e58a7cb040 phenopacket.store:GNAS.PMID_25802881_P41 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:cbc669be-3c01-402a-9d80-cc1cda9b2bf1 phenopacket.store:GNAS.PMID_25802881_P41 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:fd72f32f-0da6-4d1a-9d65-91e365a4080e phenopacket.store:GNAS.PMID_25802881_P41 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:ad18db00-442b-47ac-a050-a580a9160caa phenopacket.store:GNAS.PMID_25802881_P41 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1f6f454b-71a5-4cf6-bad5-1678f117ecb1 phenopacket.store:GNAS.PMID_25802881_P35 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:581f4a72-072e-4593-aecb-89aa65ec41dd phenopacket.store:GNAS.PMID_25802881_P35 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5f33da91-1691-4c13-bfc9-e6ddb38bcc8e phenopacket.store:GNAS.PMID_25802881_P35 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f6208d01-2778-4bae-8844-f7fa7e667b21 phenopacket.store:GNAS.PMID_25802881_P35 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:aff79429-e336-4630-a44f-fa81227caa6b phenopacket.store:GNAS.PMID_25802881_M31 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:92fe4cae-2a85-49fc-b294-353f4f6fc5c4 phenopacket.store:GNAS.PMID_25802881_M31 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:28ec99e2-517f-4060-a3f9-42949d71b976 phenopacket.store:GNAS.PMID_25802881_M31 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:585cf267-7405-4c05-8e0a-5cbd9379b03f phenopacket.store:GNAS.PMID_25802881_M31 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a0989281-1399-473c-a38a-5aeabca6e86e phenopacket.store:GNAS.PMID_25802881_M31 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e1ff08af-d930-4d23-aae7-e3f2bd311ccc phenopacket.store:GNAS.PMID_25802881_P69 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1d0c9c9a-745b-401d-a39a-3a195b4f24d5 phenopacket.store:GNAS.PMID_25802881_P69 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:802c39d5-f7da-4466-a573-43701e50e95c phenopacket.store:GNAS.PMID_25802881_P69 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a312308f-8131-4b98-aba2-ba046bd4d9dd phenopacket.store:GNAS.PMID_25802881_P69 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:d830f21b-e1c9-4596-957f-32615b1e70ee phenopacket.store:GNAS.PMID_25802881_P69 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:dfdb3863-dc29-432f-9e24-e87d7c6aec0e phenopacket.store:GNAS.PMID_25802881_P69 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b95e9b9f-6d2c-4661-8104-25ba611a79db phenopacket.store:GNAS.PMID_25802881_P22 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:21164484-5a94-496e-a9dc-c20d22c830b1 phenopacket.store:GNAS.PMID_25802881_P22 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:37202af7-3654-4c4a-baf3-2d9ce48abe76 phenopacket.store:GNAS.PMID_25802881_P22 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:1cecc22c-4ab5-464c-bc0f-d8e672d53bc7 phenopacket.store:GNAS.PMID_25802881_P22 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4722403e-bada-406d-afde-dd992c5e9b43 phenopacket.store:GNAS.PMID_25802881_P56 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3d298e71-0da7-4cec-83f9-0554f7b96629 phenopacket.store:GNAS.PMID_25802881_P56 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:cde887d6-a6ba-4d7a-8eea-94389d8d1b38 phenopacket.store:GNAS.PMID_25802881_P56 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:1f54baff-93b2-42c1-bc3b-be126b51a011 phenopacket.store:GNAS.PMID_25802881_P56 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:96963697-bcd5-4b20-ab85-5e4f0edfc59f phenopacket.store:GNAS.PMID_25802881_P56 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:dc4d9b23-ea86-42d7-be76-babd541eee5f phenopacket.store:GNAS.PMID_25802881_P56 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b68e6e04-6291-404d-a163-392b15c50ca1 phenopacket.store:GNAS.PMID_25802881_P18 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f8742b75-28ed-4352-9675-5f049517e2e9 phenopacket.store:GNAS.PMID_25802881_P18 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:ea69badf-6c15-42c6-a6eb-f55db6a6f8d2 phenopacket.store:GNAS.PMID_25802881_P18 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:00244282-3733-4e21-8451-04a94d08dd46 phenopacket.store:GNAS.PMID_25802881_P18 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:36dc281c-1a0f-44b1-8e8b-ba18d5c44e95 phenopacket.store:GNAS.PMID_25802881_P18 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:10b68ed6-e32e-4958-9bc7-220e2be19f3f phenopacket.store:GNAS.PMID_25802881_P18 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e6e3d7f7-b5c5-4943-9411-a7dcfdd7f2ca phenopacket.store:GNAS.PMID_25802881_B68 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:f45341b3-da2a-48a0-9c65-5d8db4adcd64 phenopacket.store:GNAS.PMID_25802881_B68 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bff7f223-9125-4c43-878e-10c9577f08c8 phenopacket.store:GNAS.PMID_25802881_B68 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:5e11dce9-2c68-417e-8e76-21f52744dd28 phenopacket.store:GNAS.PMID_25802881_B68 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:73cb12df-4dc6-4b92-aee0-4afd615deb43 phenopacket.store:GNAS.PMID_25802881_B68 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:28e3995a-88ef-458a-ba70-8bcb857825d8 phenopacket.store:GNAS.PMID_25802881_P21 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:46228e2e-4cdb-4411-a84c-2708c4e9b6d0 phenopacket.store:GNAS.PMID_25802881_P21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e50404b8-7532-4dd8-83e2-542825dadafd phenopacket.store:GNAS.PMID_25802881_P21 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2b70dce0-38c9-4cc5-b2b5-b92ad584d0b7 phenopacket.store:GNAS.PMID_25802881_P21 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:21ace7e4-604a-4d1d-a7e2-2a17f8975355 phenopacket.store:GNAS.PMID_25802881_P21 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:fee9e94d-ded5-4232-ac34-6f24c72d2255 phenopacket.store:GNAS.PMID_25802881_P21 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:06f2ed84-1266-4888-823a-65876577b6f0 phenopacket.store:GNAS.PMID_25802881_M16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6741b98e-7562-459e-be76-65b502f36bf2 phenopacket.store:GNAS.PMID_25802881_M16 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:7f457f17-2b9f-4d27-b6cd-dd3b6419f1c7 phenopacket.store:GNAS.PMID_25802881_M16 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:468511e0-8302-45e2-bb3f-e754c83fe60f phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:9892b5a4-9e8d-42cd-a35c-e73f62532c02 phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:639c4a53-7cab-41d6-a15f-eae46d30a261 phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:3329d6c0-47d8-4d38-89b9-f114e85083b1 phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:23b40774-5700-4fa0-b83c-2a16bbc492ef phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:c9279a3c-b132-4177-beb6-a9395126f1fe phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:6467099f-0d9f-4e0a-b1f4-276397de3415 phenopacket.store:GNAS.PMID_25802881_P42 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:0418543e-6213-4bf8-979f-2b03df95cc95 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2c967865-9149-4eeb-a6b7-3936f70ff0d4 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:6731cf88-4133-4146-bd51-956888ff2032 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:55088a68-dd28-4886-b5e1-713fc24def69 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:3855308f-63a1-4a5a-b08b-f1cf9bb669dc phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:3ec009c1-71bf-41a6-a368-009164503608 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:15dce2ec-e30d-45f5-b34b-a6aab0e21d02 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:5c2fa405-2efd-400e-bc7c-42cc245c6c45 phenopacket.store:GNAS.PMID_25802881_P5 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:47ffcf00-c35d-4555-b3b1-491ad7022d4b phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:15c96b15-353b-4cb1-836c-5300d1d1e498 phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:47250877-5f10-40f3-9b41-760b37c8fb3d phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:40e6a686-0836-4c23-918c-b23c627439b5 phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bcdb8efd-7fce-4aa9-bf4e-f830cd1ee6b9 phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:6f16accb-9d20-416b-ac90-0f6281638388 phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:d79c7deb-4248-4b8f-af68-c0bee797d2a5 phenopacket.store:GNAS.PMID_25802881_P64 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:45565158-f0e2-4201-92d3-1f818fb2a3d1 phenopacket.store:GNAS.PMID_25802881_M52 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:76aee21b-de3a-4fa9-80cb-3eedc431d167 phenopacket.store:GNAS.PMID_25802881_M52 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:0a10423b-9cbf-4f7a-8291-82254c5157db phenopacket.store:GNAS.PMID_25802881_M52 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:eacdf428-a317-44f3-81ef-6351ace2641a phenopacket.store:GNAS.PMID_25802881_M52 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:d0851ab6-7ec2-4df1-b2c1-b4e899a9ef7e phenopacket.store:GNAS.PMID_25802881_P67 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8483e0a0-f596-4fd1-a5ab-e97e8e1f92e3 phenopacket.store:GNAS.PMID_25802881_P67 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:033dca74-db75-494c-81a4-d00cc73d2b85 phenopacket.store:GNAS.PMID_25802881_P67 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e2f5d928-d394-40dd-bca0-dd30b1e6bbfd phenopacket.store:GNAS.PMID_25802881_P67 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:822fcd29-8917-4185-9185-82c65472e923 phenopacket.store:GNAS.PMID_25802881_P67 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e8fd2c42-f1af-406a-b772-98d1368bda4d phenopacket.store:GNAS.PMID_25802881_P67 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:651a6326-bc6e-47d0-be2c-189d37182260 phenopacket.store:GNAS.PMID_25802881_M22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:2f84c801-70a4-4877-acf7-af351aee3f85 phenopacket.store:GNAS.PMID_25802881_M22 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:11120021-e3e8-4e72-95b4-50419cc5b451 phenopacket.store:GNAS.PMID_25802881_M22 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:24c49a5b-e1b0-471a-85d4-90cc16ac0f7b phenopacket.store:GNAS.PMID_25802881_M22 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:10ea8b21-e1a0-4d66-861b-aeb325d6aba1 phenopacket.store:GNAS.PMID_25802881_M64 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:20f28bbc-bcd8-41df-bf65-cd699746094b phenopacket.store:GNAS.PMID_25802881_M64 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e30c6add-02de-4f40-8577-d9613d3cfa64 phenopacket.store:GNAS.PMID_25802881_M64 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:6aab6422-66f8-45a9-ac6d-5438485193ee phenopacket.store:GNAS.PMID_25802881_M64 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:93eb7248-a9a9-4ab5-9892-8d04db2d9c1c phenopacket.store:GNAS.PMID_25802881_P53 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:efe8ac53-d57f-4de1-bd09-e4596f3018a0 phenopacket.store:GNAS.PMID_25802881_P53 biolink:has_disease OMIM:166350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:2cd75af0-270f-4eb1-8174-145d5c48e156 phenopacket.store:GNAS.PMID_25802881_P53 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:60fa5ee3-5820-450b-aaeb-514a89231adb phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:aa5b433d-6891-4c95-b4e0-88de31c0efd3 phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:145ebb58-7819-4fec-a238-b97d4e78ac4a phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:4ee1dd6c-8005-4257-ab8b-37c4ffacbfc1 phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:717879e4-c770-48fa-bb56-bfd7f8a731ce phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:013f385c-d202-4a76-a26f-188448cc2028 phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:534d78bb-9e39-4a1d-8c29-01ee4d3ba83a phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_phenotype HP:0002905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bbfd38de-7e2c-45e6-a998-2a6e07716b48 phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:a6546331-eaa8-49d8-8f37-e6c1bb381979 phenopacket.store:GNAS.PMID_25802881_P16 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:aed8683e-865a-4011-bd29-03bca37e07c8 phenopacket.store:GNAS.PMID_25802881_M39 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:585801c3-97b0-44ad-bbde-6e7222e8e3dd phenopacket.store:GNAS.PMID_25802881_M39 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:e632f7c2-616d-4c4d-93ef-62ebe438b1fa phenopacket.store:GNAS.PMID_25802881_M39 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:829356c6-19aa-43c6-9e57-74907dac4489 phenopacket.store:GNAS.PMID_25802881_M39 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:7b6d46e0-9b54-4f88-8445-dba60838ee42 phenopacket.store:GNAS.PMID_25802881_M39 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:e7b844a5-e658-480c-b23c-7eb2e314db6c phenopacket.store:GNAS.PMID_25802881_M39 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:65792b99-628e-4bb8-ba4f-fbaed294905f phenopacket.store:GNAS.PMID_25802881_M61 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:686803db-ca2d-45bf-9518-b0ecff84b648 phenopacket.store:GNAS.PMID_25802881_M61 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:dc02d3b0-aa7f-4430-b1e3-b052174babb4 phenopacket.store:GNAS.PMID_25802881_M61 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:b51adde4-44c9-4df9-9b46-44fb9a04d0ca phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:8dc43fdb-e317-4f10-b26e-91e3847e798e phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:dfb117f8-dd3a-446a-994b-1eaf0d99e590 phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:be096edd-dfcb-4e28-958a-6a1acbdc838e phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:20f76a5d-ab5e-423a-bef0-55beadf29fa3 phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:354d9bbd-e089-423b-b6c1-f66ca9fba409 phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:18e270a4-0866-4066-86cf-f058bd6dad37 phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:f4707fe7-216b-4052-bece-1f0bc20451b6 phenopacket.store:GNAS.PMID_25802881_P70 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:570c24df-c848-4613-8b56-b8b1201afe38 phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:24c07d80-3fa8-439c-b066-2454fa69bbca phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:249102f3-2cab-4544-87b9-4cb3cc413a64 phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:fc4bec42-86ba-471d-b61c-93deb3a224de phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:e66f677d-7c7e-4e64-98c3-c6195533daed phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:178df22b-8468-415e-866f-1a072bf10982 phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_phenotype HP:0100529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25802881 uuid:8ba500e8-54c9-44b4-a678-b462b06bf083 phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_disease OMIM:612463 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:53036597-1528-4fb0-b739-7689e8afac85 phenopacket.store:GNAS.PMID_25802881_P63 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:15bf929b-9a46-4fb4-bdfb-828aa50408a1 phenopacket.store:GNAS.PMID_25802881_P83 biolink:has_phenotype HP:0034282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a656198a-82bb-40a5-899b-1baad7f08d04 phenopacket.store:GNAS.PMID_25802881_P83 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:a8a538dd-a293-4fb1-886c-3abdd8c1ac5c phenopacket.store:GNAS.PMID_25802881_P83 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25802881 uuid:bd36958d-ed78-49cf-b9d6-298509392b4c phenopacket.store:GNAS.PMID_25802881_P83 biolink:has_disease OMIM:103580 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:68887574-8dda-4fdb-b0c1-2111c2c35ab9 phenopacket.store:GNAS.PMID_25802881_P83 biolink:has_gene HGNC:4392 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25802881 uuid:4dfa614b-896b-4352-a0f2-bd89d60a10f6 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29174093 uuid:2dd20180-b2d0-487a-ad10-90757ff88e1c phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29174093 uuid:4c490402-0a14-409f-98ce-034191cb4dc0 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29174093 uuid:21b0977d-8728-427e-9a7a-afb1058aea23 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29174093 uuid:f68e2a46-9040-4d27-99e6-079b37b0eec9 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29174093 uuid:2a7ec69b-be23-4048-95a4-27f75f09531a phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29174093 uuid:b57dfb82-c48b-4e1d-b4f9-8215f7530f9a phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0200151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29174093 uuid:9f894bf5-5634-4e9e-9ee1-1743eda0ffe1 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29174093 uuid:5d4976d8-472c-45f1-a1b3-a59da0c1200f phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0005709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29174093 uuid:1270c6b2-5e44-4be0-9c44-3d5cfaec0a19 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29174093 uuid:ac6a025c-7b91-4e5b-b4b0-883a5e087f36 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_disease OMIM:616973 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29174093 uuid:05ab7a44-ec5c-417f-a6f9-9d195d354511 phenopacket.store:GNB1.PMID_29174093_proband biolink:has_gene HGNC:4396 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29174093 uuid:32b7b43f-f313-4661-94ba-38bd39b76223 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:a405e19c-9ce7-47b5-b944-2d7f2ea42d23 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:1c07d2f0-edb4-4982-a5da-560ef410d8e6 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0001833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:02861484-4fc6-4597-8a9e-982bc3212019 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:49dc0011-5033-4a6d-9007-b789f11c976e phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:9e012c58-2e96-4277-9f27-59243f3b5547 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:a323dead-9422-4dd5-bee8-a39fef25a668 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0003037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:63981e0b-725c-4ebf-927d-06e4c9646dbc phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:fbb6ce01-aac0-401d-8641-efc6fec59a9c phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:d038130c-54d6-4cfc-98dd-d06cf884d924 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:42383c75-0020-4c8d-8f0d-01e2a5a59dce phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:8839ee23-e05a-4b89-b0d9-67cc33a4e5f7 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:274ac6c9-3268-4a92-a841-880d24100b56 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:f699aa62-4646-4619-b01e-f971c08788cb phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_disease OMIM:619598 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:c500f17d-d434-4a2b-8580-132a9e680836 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:has_gene HGNC:19980 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:4d243810-6c96-4acb-9dc4-c57caf35d3c9 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:5f941b36-8009-4bb6-8c33-e38350932018 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:9ecf876c-fc3c-4d63-8ecd-b7f77811e505 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:b408b849-9d75-4049-8d19-0167e31464a3 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:3f41b7d5-b03f-4c3e-9f4e-ace9d999ee7c phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0100862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:02c9b9aa-95b7-4d2d-a619-061c0e094543 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0100864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:f8274e78-9a7f-451b-8ad8-15930113d9c4 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0001833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:f0ce7165-f106-4aa5-9299-3c7eb93acfd5 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:9eb6f5bc-7661-43f8-ac53-ac8478802787 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:6196856e-a024-45e8-813f-850c187e08fe phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:d4a1dbe2-05b1-43ad-927a-e3442f753210 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0006387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:4487a728-0774-4e15-895b-fd1d9ebdb199 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:95a09eb3-2525-495c-b28f-093d3f65ba2c phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:4f823569-a206-4ec2-bae6-ce97c2cc630b phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0003037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:9b80a3cc-388a-416f-96ec-f59db62a07b7 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:bf2b8398-0390-4b24-be23-acbce43276c4 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:38b69383-7ddc-40a1-8e6a-bbe39fb0ce1d phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:cce3c1ce-998f-4d6d-84df-fed01983f088 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:979e8c12-129c-4cc9-b365-e9ef67908718 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:da8e1178-863e-4168-b9eb-0e5542154637 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:0626aa4d-44e5-4b0a-a377-8f08098e2275 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_disease OMIM:619598 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:be05c6ab-131b-4b2c-a2dd-e46b78b291ad phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:has_gene HGNC:19980 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:ddd51962-f7d1-44eb-a1c7-06089e9acf47 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:f1c55d1c-b6fd-4989-a1d8-2117a9940c61 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:901190ad-567b-4f9e-b7b9-0fff4d36e83d phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0001833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:906122d4-7a93-43ce-81e8-5c6ecf4ae6d2 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:a96fd3cb-5926-48b7-9dd1-56c9e54f2caf phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:516db525-b203-447b-9f6e-979a3fcf74b9 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:54750909-b875-4e29-a91d-dd2f6f294d94 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0003037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:15ef4ef8-cc05-41b6-9819-35afe974d091 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:fd03a500-fbf7-4b09-89b0-9b103cef5925 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:df1688ed-5ee3-45f0-b086-0e4203fffefd phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:296f04d7-6a61-42bf-a81d-99ecbd68a434 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:ad6b98fd-be16-427c-a5b6-a699f3130eb6 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:b784750a-6dfd-47bd-9a7b-574374d358fe phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:18b41b48-9bdd-4cff-bf02-70df6c1a2b48 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_disease OMIM:619598 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:c4e367cf-0b34-47d8-a170-1b3514c56062 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:has_gene HGNC:19980 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:8724302f-b6aa-4bc4-a323-1b988ba69d22 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:52d7021d-077a-4748-bfa1-b2424b798a3a phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:2c5a2a86-0499-419d-a98f-937ef8b492ef phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0001833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:8b99fd55-9cad-4399-aef9-481403dd6179 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:0830ff5a-e545-4eb0-9bb6-93c2ad347024 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:9a40dcb7-4d71-4c21-a989-f7968ff1e1f1 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:21190be8-5571-4b1b-b39e-4a874c3e31f0 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0003037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32591345 uuid:dd0050ef-2f28-4f3b-baaf-f518978bd629 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:9cc2383e-8a1b-4ee4-839a-042280036c31 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:2b0b2103-045a-46cd-95fe-7e2210f02e03 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:354bb975-fe07-4b07-91e9-2d943c1dd94b phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:f467852d-d672-4f1b-bf08-c7c3b17e033a phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:5ecbbda0-e43a-45f1-a77f-7393dd473299 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32591345 uuid:266e9c58-860e-4d26-99f1-cffeaaa27928 phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_disease OMIM:619598 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:97ca2f94-7bf5-429a-ab5d-c6660886f38c phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:has_gene HGNC:19980 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32591345 uuid:a468aaee-c630-43d0-bae3-6f91ac80f0ce phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:14be9358-9afb-42ab-b361-08e8e6cd7e4f phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0100864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:123eef86-c3e7-4567-9f51-afc2b1785dcf phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:923ef969-f221-46ce-a5d8-751cdaf01fd0 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:3756916e-afdc-46f8-8c97-629e1da98bc7 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:6aba06f9-84de-40f0-b48c-b710359a58e9 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0003037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:5b937820-6ddb-4aa6-8992-a0626a4ee22f phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:57c7603c-b0e1-467f-9179-56b8394546eb phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:6487d517-2998-4e99-ab49-e5d90c8bdacb phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:27f00c3a-3c9f-4ce9-af02-80bd30c288df phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:a37f73c4-3319-4708-8510-58f493c62877 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:9576df51-385f-42f7-848f-597143edaa6c phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0001538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:2d0a11e0-ab0a-4a73-8754-5a29b6473563 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:e88d4761-0fb7-473a-8caf-4f44dc40b422 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:14bf906f-24de-4f39-af0c-b13caa7babda phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0000904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:0b127743-8f0d-4e57-b691-bf74656f87a9 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:ca25fc5d-b4d9-417c-a4e3-e30e52ab2a54 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:be303994-7733-40e0-97d3-d94c36863836 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0003956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:f4fe4b59-2109-4db0-95c9-eb202e8b448c phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:ceb352a4-c0eb-425e-a7d3-1778f5526cc7 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0005121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:54821193-3c31-4d53-a2b2-7f873e2cfc64 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0003177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:a87810f7-debd-4440-b252-483054f19bf8 phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0003180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36097642 uuid:ad7e4924-5c00-4707-af56-6ba1b60b506e phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36097642 uuid:2de1542d-0554-49c9-ae60-26d67a5bfdad phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_disease OMIM:619598 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36097642 uuid:e4261296-d571-4690-be47-b3a22d6ddd4e phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:has_gene HGNC:19980 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36097642 uuid:0b90d8f9-5561-4924-9b99-0c8ad6b5908e phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:d1e6577e-9595-4541-a9d3-d05e4459cddf phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0008905 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:3e1d7819-0ad7-4f21-a89a-53ab55ffecd1 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:52b21e22-91c6-4e31-a6b4-1ab6093473d7 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:86bc679e-cf1d-471c-b076-50db0f82a364 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0100864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:3888ed9e-0e2d-42a8-b3da-4f011ef7b90c phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:1fa9cdf9-cb23-44ba-83fb-2b3bf572b706 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:e83d9138-0b4f-4b91-bb83-64debbaa2ce2 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:a71ac1f5-54ad-45f1-9dbe-bbcd581b8010 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:d9849489-3fb7-4d57-ac08-9a7ace59094e phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0006387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:4a570ec1-3b62-433e-be0f-156fc8cc74c7 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:e2a404be-ca83-4dc3-8208-3fffc13c8e10 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:c8163655-9cec-4270-9ccf-83be49ca8e7d phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:25b27136-9696-4154-958f-d1a46334051d phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:7028477a-f270-4574-8cd2-6b47dc7b6faa phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:fb3873cf-237e-47d4-9981-2759259154a5 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0005043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:4ba3d34d-6ed2-427b-ad40-07961c9a240c phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0003951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:3e93669f-f2de-467c-9834-cd378c246adf phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0003037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:a5e3842d-3c4e-4a87-ac9f-badc856fecf2 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35427807 uuid:78fcc8a9-2618-4c0f-b2ea-fcb69b692195 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:0f468005-735a-4a1f-9ebb-0c4d619713e1 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0004379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:23bac903-6710-42d5-8728-30cafeddf4cf phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:b4792242-0270-4737-aec1-c2a670865463 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:c77ba295-3e4d-4529-951f-79fb3bbc56aa phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:20a0ffcb-b51d-4379-a7aa-49576fb9239a phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:bcabc8a6-da13-43d0-9a09-c02d5d0f27b4 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35427807 uuid:bae64b83-07aa-4d14-8fdc-f3b1483db154 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_disease OMIM:619598 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35427807 uuid:703aa958-c620-4d7e-b89b-6468e758dfe4 phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:has_gene HGNC:19980 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35427807 uuid:a31d51ac-3a74-4b08-99a7-b14ebf1453ab phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30208878 uuid:44983039-3996-4d42-b131-b05b7b69f35d phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:30208878 uuid:ff5f0910-9039-41ca-baa4-e1de530e029c phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:30208878 uuid:43c38bbc-44a0-40ca-8e80-ede5623b0e46 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:30208878 uuid:f446da7f-c93b-49e0-affb-5ee81b15328a phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0008155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:30208878 uuid:0a8a2f2d-c7e6-4bc9-b071-c919546f199e phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0003538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:30208878 uuid:4bea63d2-fab8-47a1-be0c-8073397ffb0b phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30208878 uuid:ccf7f9a2-c0e7-425a-a9ab-b97abef5f691 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30208878 uuid:b0a3bc26-95d4-4635-9500-727b6fbdb351 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30208878 uuid:98c0576a-a93b-4a7c-92ae-e2f97def00dc phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30208878 uuid:0c63f76d-2d0e-46f5-8def-bc40af40d134 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:bd256b71-7ca3-41d1-867f-dfaf0eda9379 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:76de7e13-7534-4099-a109-aa9789d9b59c phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:3c57560b-3beb-4516-89d9-d5ce60155666 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:5bdcf188-9189-41dc-bbd1-77b06f8af5dd phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:c9151db2-bb8b-4c8c-8547-e115c03b32da phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:11843885-fac8-42cd-9e93-dc3ed8250b85 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:9c68d436-6d9c-4d24-9a95-f28929d0d00f phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0034337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30208878 uuid:e4f93595-0a4e-4843-8489-032bf22bd10e phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:30208878 uuid:80f47100-8528-4f3d-ad8f-1b05fad51cf2 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0003320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30208878 uuid:b3139662-afec-4312-a0ba-74a94f59a29d phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0008439 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30208878 uuid:d94e5245-35f2-4dcf-943e-2a82ec06902c phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:30208878 uuid:c8c10ea2-35d3-452d-a672-1614998a0f29 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30208878 uuid:27b5d8a7-bdd2-4b1e-88df-088526619da0 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30208878 uuid:e0772826-7f93-434e-8b93-20d3bad807f3 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_disease OMIM:252600 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:30208878 uuid:43c32377-91cd-42ec-8eae-34aceb17c641 phenopacket.store:GNPTAB.PMID_30208878_proband biolink:has_gene HGNC:29670 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30208878 uuid:1aec66f9-765c-4651-bf42-22f5a5a28789 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:27180139 uuid:75e3e68b-8e14-40ec-925e-5d08d9834a73 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:33304488-56cd-44fc-bb04-e4d0fdc613c1 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:15113ace-b8f6-41eb-91e3-eb8f885f4599 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:219c02b7-3782-4be0-bc51-c344923780e3 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:70175e42-554b-4aef-b682-60bde3c57db2 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:811e91a7-e943-47a9-89a4-2ca7f4f7d47c phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:8c7fd5c5-53dd-4d76-a35b-f8c32b949938 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:00a1a97e-cbf1-41d5-8b26-3c37de9e3a17 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:f7626624-8c06-474e-9662-79c81557b302 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0010485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:7992a220-d66e-4648-a5f0-da70d8fe16ca phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0045086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:55f26cb0-1f87-44d2-ae99-1c245f29e5cf phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:4d395e37-f622-43c3-9198-61c7bce6b8d4 phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_disease OMIM:604213 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:27180139 uuid:b96c3df7-7f63-4121-acc9-0dfd3e98a92e phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:has_gene HGNC:29501 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27180139 uuid:f687e0fe-243d-4f7d-a68d-67dc4c79723f phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:0723e761-736b-435b-b6d5-deae0ba26c65 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:96bd32e7-6e30-49ea-97df-8b340fde7eb7 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:6d97710c-0eb7-4257-bd64-941493d6c382 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:8710fa76-cf35-497b-a566-4a33299c9a97 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:69c9cf21-d370-43c6-9c94-ece5fca5045c phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:fca43bf7-c11c-4f05-bf37-9b9aa2217f87 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:47972a05-85b3-4f3a-887f-99ae069a464d phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:6db62c42-d229-462c-ac1b-c01f823afeee phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:985882f5-96c9-48ff-b082-0dd10cd3f41e phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_phenotype HP:0010485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27180139 uuid:582e5d6a-7611-4fc2-891d-f2fb40eba607 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_disease OMIM:604213 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27180139 uuid:4a25d431-22b2-42ab-b723-9b9db5d2df87 phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:has_gene HGNC:29501 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27180139 uuid:8e8a801f-52a5-4310-a787-e08cf09fb792 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_phenotype HP:0008672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:28569194 uuid:90db7d16-c94a-49cf-8ae5-25db4a2438b2 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_phenotype HP:0003159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28569194 uuid:9661f925-5e12-4836-8436-8a74489bec85 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_phenotype HP:6000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28569194 uuid:c0274381-ad79-41b8-b160-79efdbdbd86d phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28569194 uuid:52f9eef6-85e8-4d56-a99c-ac5f952703a5 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_phenotype HP:0011280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28569194 uuid:ccc40f53-2de7-4991-adbb-ab36d1f01705 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28569194 uuid:87aa208e-dddf-4882-8b2b-0349798e79d8 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_disease OMIM:260000 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:28569194 uuid:b4da7041-7d8f-4d48-a63f-107085034bb2 phenopacket.store:GRHPR.PMID_28569194_nan biolink:has_gene HGNC:4570 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28569194 uuid:9f58a132-f79a-4649-b9de-2314f0151437 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:eb4a187c-9f8a-464f-9aa1-5163e8a2f2f9 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0007209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:007f61fc-156b-4645-9703-236d7dd497e8 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0007089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:11868582-6458-46d3-aa87-96739a3726b3 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0000221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:5234ece0-d56a-490c-b1d1-0a200d345a88 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0033660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:915c0266-28c2-4b37-a421-c630005ea022 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0003394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:b4009780-4b53-47e6-bc5d-7c80f5b2dd4e phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0000966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:c203db15-323f-4220-a782-4582e07646ac phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0012507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26915616 uuid:a9c97d62-d481-4787-bf88-88d327e681af phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26915616 uuid:3315bb18-b00e-40eb-9295-9468053ce835 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0007230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26915616 uuid:f90895f3-cf10-4b98-ac28-b18f1b5540a4 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_phenotype HP:0003431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26915616 uuid:2383caf7-f2a2-4e7b-8392-c4abd2f6e155 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_disease OMIM:105120 biolink:CaseToDiseaseAssociation manual_agent observation P54Y infores:phenopacket-store PMID:26915616 uuid:7cf74f09-ad29-4ace-bee7-27786844e461 phenopacket.store:GSN.PMID_26915616_case_report biolink:has_gene HGNC:4620 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26915616 uuid:dfc11288-7bc1-4280-af67-7b0c3347bb9b phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:9a7cb8d7-e180-4509-9f8a-dc64219dc4dc phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0001788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:ec5f19d4-9c5c-423a-b814-a7bfae982264 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:9c98e9bd-f64d-41dd-bae1-26654a440fca phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:e4ee4882-ed89-4364-9411-dad5e653c61c phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:9b64cd5d-4efc-474b-9b7b-abfc1ef4511d phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:2671e1a8-b57c-4f54-a5f5-17e0ca99877b phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0000695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:d42a3464-c840-42b9-b544-08e78dc3786d phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:aeba74b6-bb66-4d45-853f-28c56897d03a phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:19875617-7572-49dd-8b73-7920e8cd2eb5 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0003075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:08973ea8-3a5d-42b6-8618-7d3fa002ff29 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:44a9123c-d94b-4c21-8bea-ef26046d183c phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:5cc947ae-078c-4bc6-8e2f-53cee521ccaf phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:27db5bb3-78e9-4d29-96be-441ac71bb04e phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:f89f7a13-7500-4af3-aac8-2ffe30c1e3c0 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:32e4e6cf-5943-47d4-a017-ccbfb44a640d phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:bf9622c7-69de-4d9e-b986-2ff3b6a4a6ca phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:7433a880-3c01-4ebc-a93d-960d3ed343f4 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:b97fde9d-74c0-4903-93b6-ea4b0f63f9c9 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:bb7604f0-4478-41c8-8eeb-05d7cc9f2f6b phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:08fa1549-0676-46e3-8c68-6b9e48eb87ba phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0008689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:280af23b-993b-4e8a-b603-ac40b1895ff0 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:3faea620-ca58-4425-bd96-a179d7234dbd phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:921174d2-4a5e-4518-8c01-dd92b82edfe6 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:a3cd0907-d278-4003-924d-aeb303b0a9e7 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30359777 uuid:c7c47178-a54d-4c5c-b296-44f2cc347a4d phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_disease OMIM:616395 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30359777 uuid:65c98ba2-b8df-4237-8549-31fbbe0448c1 phenopacket.store:GTF2H5.PMID_30359777_nan biolink:has_gene HGNC:21157 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30359777 uuid:2b933c9d-9c4f-42c6-a875-d1fa09d6acda phenopacket.store:HCN4.PMID_12750403_66_year_old_woman biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12750403 uuid:b6de0a00-4b68-440b-8d2c-36efdc7544bf phenopacket.store:HCN4.PMID_12750403_66_year_old_woman biolink:has_phenotype HP:0004757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12750403 uuid:3e945144-90c7-45e4-a9f2-ce19a22b9636 phenopacket.store:HCN4.PMID_12750403_66_year_old_woman biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P66Y infores:phenopacket-store PMID:12750403 uuid:13982f8a-0296-4284-8e83-81cba398a9c4 phenopacket.store:HCN4.PMID_12750403_66_year_old_woman biolink:has_disease OMIM:163800 biolink:CaseToDiseaseAssociation manual_agent observation P66Y infores:phenopacket-store PMID:12750403 uuid:195977e5-b8e6-406c-b9ba-efff913fedbd phenopacket.store:HCN4.PMID_12750403_66_year_old_woman biolink:has_gene HGNC:16882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12750403 uuid:c5e1e91d-b15a-4cf9-a192-8e83fae234d5 phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0030682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:20f1952b-9de2-4a88-9334-4c2b0f7b0baa phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:bfe3e823-b698-4a89-bc51-dcde07414e54 phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0004757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:f6d96983-87f3-4d83-89e3-9c6e042790f0 phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:7270e6a1-5a99-4511-9f61-93db1a6c5809 phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:fa30cbce-1a4b-42e6-88a8-beb5efdf429c phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0010872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:e325561f-b702-4150-a21e-b21840b9958b phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0033992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:e7dea6f9-4157-4e08-9221-4ba359b64599 phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:25145518 uuid:cbfa367f-65b3-4ac4-b04a-b02fd7a30a05 phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:f8113eba-37ed-4537-94a0-cb7273096cfc phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_phenotype HP:0031547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25145518 uuid:000be2a2-35c9-4ba5-893b-e30765a597eb phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_disease OMIM:163800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:a7d0ac31-0337-40ee-8464-d2dcb2b54dfd phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:has_gene HGNC:16882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:deffc1af-6349-4c5f-87ca-2ebc074c04f1 phenopacket.store:HCN4.PMID_15123648_index_patient biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15123648 uuid:00e79015-1c3c-4cae-bfa6-660056d746fa phenopacket.store:HCN4.PMID_15123648_index_patient biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:15123648 uuid:43426232-8488-4791-8305-722b80298d72 phenopacket.store:HCN4.PMID_15123648_index_patient biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:15123648 uuid:bd9ec0c8-78a4-48bf-9932-bb4ca920c969 phenopacket.store:HCN4.PMID_15123648_index_patient biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:15123648 uuid:bd3352e6-80d1-461d-8078-0d289ea54b2b phenopacket.store:HCN4.PMID_15123648_index_patient biolink:has_disease OMIM:163800 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:15123648 uuid:12b64c0b-924f-423a-ac84-d66a4eaf4335 phenopacket.store:HCN4.PMID_15123648_index_patient biolink:has_gene HGNC:16882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15123648 uuid:1c762db3-bd19-4a44-8230-c3dbcc680a7d phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:has_phenotype HP:0030682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:2eec318f-80f1-4b61-8e86-b82ffc0f3b82 phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:e2bab5d0-1479-458e-b97a-c14227f2aae9 phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:f80fcfea-3acd-4b60-9780-74b6cd17171d phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:149ca442-8e23-4ded-8e97-bd7ada1ddffd phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:has_disease OMIM:163800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:d4034317-b9ef-4eb6-8a94-5c65659a8c1b phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:has_gene HGNC:16882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:ec872175-6ff1-433a-8b9e-2b3b8085b1ca phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:has_phenotype HP:0030682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:29546c79-5686-4f83-8649-30a9e03b190b phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:819920dc-9025-4258-9644-fd8bd3ec5eba phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:d66f871f-43d5-4c0c-8157-8a7bd06ebe09 phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:5912d4f2-3ff5-4c06-9fea-9a9acb7ae7d8 phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:has_disease OMIM:163800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:18cf4a44-4f4d-474d-99a6-02bf886b7cc0 phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:has_gene HGNC:16882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:138a9d29-4e28-4289-9c29-8ad13c9ea333 phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:has_phenotype HP:0030682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:c967c90e-8dda-4dae-9616-d53fe8ba1684 phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:a3b82a36-1efd-463e-af52-4da63aa5e6b1 phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25145518 uuid:6bd6c6a2-33b2-4241-8315-79ee82bc70e3 phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25145518 uuid:181b2256-6d72-4903-abcf-57b6793225db phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:has_disease OMIM:163800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:11bea86f-29b4-4f8c-973d-63efc206330e phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:has_gene HGNC:16882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25145518 uuid:292ff94d-e1b7-481e-88a6-8e22700080bb phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14970743 uuid:d2e00647-c37e-46f1-8ed2-e24962438055 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14970743 uuid:8836b120-dc39-44c7-97f0-f54f63037a46 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14970743 uuid:edfb777b-72ab-4216-b668-efb0ac46a11b phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14970743 uuid:afc80dac-83c3-46d2-bbe0-965376c6a265 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:4000199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:14970743 uuid:7087b665-3cd8-45ca-b820-49d899aeb808 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0031890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:14970743 uuid:06643c50-9584-478f-aefb-1d094f4d8e42 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:6000536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:14970743 uuid:6e329e1c-f8ca-400d-9ba1-fba0038508c8 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0040318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:14970743 uuid:46d48a98-e5ba-44d3-8a84-cf6da9bb2df6 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:14970743 uuid:8a932161-19e1-46da-bb5a-990dac907c83 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:14970743 uuid:e9e767cb-2239-4c18-ae11-c6cff5461a36 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0006286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:14970743 uuid:7cef29b2-c862-444a-b96e-2a05724d1b83 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:a0e24674-fd58-4194-888f-a974fe590cb9 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:68a2b555-c7b5-4ebd-98a7-6c7f19b88668 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:d97a3cbd-041e-4790-a804-a9d3d06bb668 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0002951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:e14f6082-1796-45b1-a827-685ad66752da phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:35932fc2-10aa-41cf-994d-4d8a65790a38 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:5920d0b8-9a13-466e-878d-aaac78eac15e phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:c49f328d-1d14-46c9-b535-cd667a486999 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0032002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:cb21fee9-e2ec-4a2d-bfbe-4de2ea004420 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:4d94603b-1ddf-425c-b4a0-88b709b4a346 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:a1ecb149-d7c1-4879-8b51-546f431ce230 phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14970743 uuid:b219ac68-7520-46ef-8699-1d047fd2e61c phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_disease OMIM:620704 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14970743 uuid:24bc59a7-a418-4ca6-a8f3-3ef9bfe8a97c phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14970743 uuid:357bc3a5-6693-46c9-88dd-2adfcb93d97f phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0002313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:863421e7-057d-4941-8360-2ed7524d2ac4 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:7502eb7d-3b65-4341-85e6-ddbdeaa07806 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:04fd83ae-4f8c-4d07-9802-e62e5df87f84 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:fd32ba2d-182b-4002-b2ec-f3eedbbdd326 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27558376 uuid:decfbd23-4310-45b1-9018-8ae719e52b11 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27558376 uuid:4758db0c-0a6d-4ca2-875a-5020f6603942 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27558376 uuid:69971821-4eb9-4563-aa90-7cc7b4bb3a4a phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_disease OMIM:620711 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27558376 uuid:34891882-7c17-4df9-aba2-40682bea1256 phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27558376 uuid:c547ef91-e31a-4499-ac9f-1e293cdf197b phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:34089223 uuid:f00139f7-7e32-467a-ba72-dc7f695f9eb2 phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:has_phenotype HP:0002313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34089223 uuid:2bd4ac0b-45de-41f9-befc-7a3b76525350 phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34089223 uuid:b105637f-5d19-4a9d-aa17-a407d6893e00 phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34089223 uuid:63290baf-7bea-40be-a0aa-cf7409cefd18 phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:has_disease OMIM:620711 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:34089223 uuid:f591b82e-b596-46ce-aa40-5f3f82a60794 phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34089223 uuid:36a5f8dc-7785-4c83-9fe9-1a60d1df3e9f phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:4000199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:25f4fe1c-1e8c-4c9a-ae05-4007ce67567e phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0031890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:41ab42d2-e08c-4f1f-93cb-d2a7ade584f4 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:5960947d-bbb8-4620-99b9-73536398c30a phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0002951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:9d8d7fc6-f3e5-4c7c-9e07-26a156e56ae5 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:f78a68b8-ca6b-4a02-88cc-1c1d07cf7a62 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:904654d6-dba3-47c4-b309-3a6b16186831 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:721378a5-e9aa-4e0d-88d5-7973b7db2cbd phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:1577472 uuid:6e079648-976f-4214-a318-334732aaf5d3 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:81670805-50eb-4cc5-b0ce-9367cfbb8f04 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:56db8235-0369-42f3-9b75-4772e1f1236d phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:82d0510f-9a4c-4ff4-9e8e-e598caaed421 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:ca8359b3-6072-495d-9f6b-2b75c5728f00 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:82a4e07d-d209-4894-9f0e-a2d5b77e9cbb phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:83162965-fecf-4c58-b230-b736dacf9ccb phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:50525925-a7a8-424f-ac2c-3d32c96b2010 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:a6fb4d6b-b2a8-4c61-8d87-1f5b8be84d4e phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0006286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:b67a082a-37f9-496b-b139-0cc6845e4cab phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0040318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:cae2eefe-2c52-4d6d-b42e-98cd35dda070 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0032002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:0ca5956a-f00a-40cc-9cf3-5b01a1ad2662 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:819351c4-de76-484f-b773-3780c2a2015e phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:94a7783e-ce1b-4664-8735-db6887f3474a phenopacket.store:HMBS.PMID_1577472_sister biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:1577472 uuid:5fb7f63e-7916-4c88-90f1-a31cd5381278 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_disease OMIM:620704 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:1577472 uuid:76bd0ac3-f85d-4be1-a027-bccc0de97002 phenopacket.store:HMBS.PMID_1577472_sister biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:1577472 uuid:df5c50a7-b005-49ec-9c20-9e36711ee080 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27558376 uuid:d30dc95e-2ada-485a-af5c-68db1f468e94 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0002186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:27558376 uuid:7c5648fd-9efa-426c-9bb9-757e81a56840 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:27558376 uuid:4a9fc4e1-3ed8-4e66-8e33-72e4e9f9db5e phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:27558376 uuid:7a062e2f-eb96-45d0-8b49-3bff609b7731 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27558376 uuid:f5b504a3-8590-41df-92df-57b15a43d626 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0002313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:deeb62b8-9eea-4180-96f6-491f8322f7a4 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:33fd1784-9608-4112-857f-a900c5421c4b phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:2910b9dc-1288-4369-8bf7-4105009b592f phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:43a74544-336f-4b2e-b52d-33b8d646a87e phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:a8617b3f-ef51-4261-95a7-10c016d4c419 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:5fc60293-2ac9-42d9-9a15-1a217ff022ed phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:0edd2df5-43a1-415c-a019-1565fa68d620 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27558376 uuid:14b22600-2beb-442a-aa24-47b26e430dc9 phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_disease OMIM:620711 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:27558376 uuid:83182e14-4158-436c-b907-2d29d67e7e7c phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27558376 uuid:f304c610-7941-48c8-95ee-7ca2085dca79 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:4000199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:b1a01815-31bb-4523-8612-62d7e3963772 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0031890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:00de14ad-03d9-4531-a5c5-db931ad61d0d phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:6000536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:a66225d6-ce90-4bcf-89f7-5bcdb07f99ee phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:8f05c88a-e2ee-4e74-8934-7d442e7c24b0 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:97204c6a-389f-4fb4-9291-6b0a574b302c phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:a87ab891-2cff-4c98-ab0f-f8da1c34616b phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:9a5e961b-90fd-40ff-a213-16bcce9a1db5 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:88ee4c06-3dd5-4e56-b741-85c038f67f6a phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:4ad396f9-af3f-47e0-93b1-0c8e7cb39ea5 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:e9ccd665-47a5-4fd0-a4fc-ee8a528233a0 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:c148d7c2-1ba0-40c4-9fe5-142fed1cc4c4 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:6dbb390a-af41-4b07-92fb-fc5d17650205 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:4e1648ee-be67-45f5-9f24-f9350cb46a00 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:ff1b6937-ce5f-43da-919f-de21f0ba50b2 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:15534187 uuid:3f5f2c69-65f5-4b2b-9713-626f548736ca phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:15534187 uuid:dad91cfc-e6be-43cd-88ac-d61793f071f5 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:15534187 uuid:24fde4e1-9b87-4cf7-a776-0a821cff22bb phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0032002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15534187 uuid:46cb03f4-6ed5-4d7b-bb77-a845e6f626c2 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15534187 uuid:cc7bfffa-9a20-40b2-ab14-9bafe875e511 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15534187 uuid:2478c834-260a-4d8b-8a4c-3a5219a4316e phenopacket.store:HMBS.PMID_15534187_proband biolink:has_phenotype HP:0040318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15534187 uuid:53de5faf-3f3c-48db-8cd2-1bfb34af52d9 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_disease OMIM:620704 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15534187 uuid:ec82dc81-4221-41dd-86bd-f76fca730541 phenopacket.store:HMBS.PMID_15534187_proband biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15534187 uuid:b896e3e1-6728-4c0b-b260-b7ff0e241089 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:27558376 uuid:322cccd4-398b-4c4c-9971-3660f819157b phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0002186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:27558376 uuid:b018fd07-516e-494b-8d5e-80c6001bf228 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:27558376 uuid:9e3e6e67-cfaf-413b-9272-c9c698eb663b phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:27558376 uuid:de5b91ce-df26-4783-9d66-a35b7bfee2f2 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0002313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:7cebee71-7203-4440-9485-3b073b9f8f53 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:3aa444ab-018c-4ea8-8d76-54dcca9f937c phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27558376 uuid:28ee3d7b-b474-4b59-9bab-14c3990b7761 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:0254843f-e24b-4248-8236-24109f53a0e5 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27558376 uuid:303a3d21-330c-479b-ba4b-6364c46d55f4 phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27558376 uuid:6fbcfee9-162f-4db6-89ce-3413c18b3b2e phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_disease OMIM:620711 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:27558376 uuid:736e1a38-d5d9-4dfa-85e7-4edfa35f03ec phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:has_gene HGNC:4982 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27558376 uuid:a6e142ab-eea4-47f4-a6ec-6c3d7377912f phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:caacdaf7-a526-4a8c-88ac-af3854fed636 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0010602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:8064e2bb-709b-4743-9282-7ee60ad4671e phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0030099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:7735fcdf-959d-4e15-acf3-205f0ee64750 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0100299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:22ef5def-0144-4816-922e-e03ffba9f325 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:959855e5-f858-4b3f-a05f-3204cea5dbcf phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5aeefa3e-adeb-4764-a3d6-69ae32e3d66d phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:8025c2c4-dbb4-4391-b685-a3b8136cb2ba phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:0fec6493-1a0b-45f3-b41a-508e3a21a239 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:6bca1747-eb1c-4d8f-ae58-8cc61e76f05a phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:1deef4ec-9eec-4138-ac0f-1e11a9ccf951 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:f02f0654-d0c9-4f22-9ee6-728e0e4e88e8 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:bf250c95-24d0-49d3-88ab-015ce6fcb2b0 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:477e68c6-3c57-4cf9-81b4-597c3c70056e phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:bd5d8dde-24fe-4449-b964-373687fc8bd4 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:8f9bf649-67d7-4269-b2d9-4f34b3a0e312 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:9cff4e79-3906-41fa-a7e2-4f2af9567bb9 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:403aaab5-2b90-4ca4-aab1-fad0f4c84f6b phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:37167966 uuid:7a23186d-5272-49a5-951a-f062c176f329 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:d775deb6-08f1-4b35-8423-abd35d5b716b phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:01374cde-3459-42d2-8457-ac2266d6e5ab phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:08376888-4017-4ec9-9e3a-7cd2c9268d7e phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:a3386bce-2e30-4a43-b081-cb770a867e3c phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0030099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:b0bc3e8a-dc14-44f5-bb22-1def2abc62a7 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0100299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5c1faaae-137c-4b7a-84b2-e171d3726369 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:60facbb2-65a6-4146-bbc0-c686151cdad3 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:0a9de662-71a2-4b17-bc2d-cce434efacd0 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:a403fdd8-b814-4981-bc16-03a253d232dd phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5857724c-c2ba-4f74-962d-2ad1686a3970 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:af4679ee-b05d-4aa4-8833-58beb28a6d17 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5edffc83-a0f3-4536-bf66-5733eb63ec49 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:087a6ea4-40ad-4b32-bfd5-457f4870ee66 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:da6e86a1-1e08-433a-bc64-428d19597c49 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:a035c68f-e6cc-41e1-8c77-5858b6fce6c0 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:026f806f-9306-4d38-977a-f476250f20ea phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:81deca23-efdd-4e6c-9f37-b4c72f9d2dc3 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:c62a2955-9945-4738-a512-128915685ddb phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:383beb5b-0049-43b9-9655-3784d751ab2a phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:1b74a96d-a392-4e72-a6f8-9cc24f750eb1 phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:2cdf1a4a-a676-4037-b75f-65bd646a318c phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:aedab69f-085b-4016-99b5-c648989de07e phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:30946483-9591-4396-b6af-2bf0394fff24 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:55450f67-cdda-497d-abc9-7fc30e33703a phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:ad801d30-8432-4592-9d80-9c110f85198d phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:98fc8108-3831-4193-b7f5-cf0026d3736e phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:6e7bd3c8-302d-4a79-b4b1-d2b7a63c29e7 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:104e4dc5-5215-48c6-9740-7cef0f4f8fcf phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5231387c-abbe-42ec-a307-29a33d21b239 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:07ab9aeb-4770-4b11-889f-3af2d5ed4731 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:52cb5388-34af-4eed-98f2-883975f0ef36 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:37167966 uuid:a225e230-e5d4-4180-bc5e-ed294c6ccffc phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:2d1080ce-1d32-4f3f-ba81-a4a7c4aa1600 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:29b48861-3f59-4ab0-97f2-5ae2c67727f3 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:e6fcfe2c-d20f-4510-8863-1961f3de5edc phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0410174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:a3de105a-a97d-45f7-a828-3f7962820ad4 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:31f56132-be44-4656-b433-29b3ff5c55eb phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:093cdd34-76b1-4638-ad27-f90bdf78715f phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:aa1e00a0-4929-4744-82d2-19147679d42b phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:eea1dc8a-73d6-4d01-89b1-2d04ceb39da9 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:f5d72dc2-0952-4a3d-bfd7-fd6045bb5bbe phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:13d92853-8957-4ec3-a83c-a92591e995c9 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:afe092e4-20d1-421d-a379-ef02e2fff51e phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:bd0a8f75-c256-4e15-b56d-a81c91492722 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:8e3e7737-8e22-498f-95ff-52c1cd1abe01 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0025691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:14f36f53-0cd1-4f33-9b5b-1b401aabb521 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:5d35d1d9-970d-4f53-9ba2-cf6282a7f333 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:648a18b7-632d-4058-aef6-e065f624ea80 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:e2f00959-ee07-446d-8b1f-a020e86b2134 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:aa8245a0-367b-4299-b443-d77a9d9c58ae phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:a666ccff-abbd-4cb9-8c3a-112ac001101a phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:ad8dd759-3c29-42a3-92dc-45a2adb84eac phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:1508ef06-837e-4bf1-8806-46f4fea75f1c phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:36745799 uuid:8cbaa6b0-eada-4334-9a09-004b94320659 phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745799 uuid:56ca40c2-4e47-4592-8cfa-8bb96c4943aa phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:366e2e86-0973-4b41-abc1-533b9986952a phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:2fed6ea0-d667-455c-81d0-eaa09edcfdc8 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:c089c661-b3e5-423f-977c-3ff12e04a775 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:0d099782-9777-4601-87d9-e914197805d3 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:472beae2-b3eb-44cf-af4e-0dc33533e9fa phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:54302c0d-400e-41cd-9f02-1fead713dc9e phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0025691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:6e894a39-9ad3-4d08-8c02-ab43ae1815bf phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:1d77495e-fd69-48ff-b36f-a7556c1b1bb3 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:f2626513-2415-4dae-a8d6-e367d0a058d0 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:2565b849-5986-474d-bd2d-b0048350e427 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:72ae63d9-06ae-4007-add0-dcdd5d956a15 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:d294a087-4d55-45a8-96e6-ede55add36ab phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0025168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:4efd8d43-579f-4d3a-b01d-d0c957a42c89 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:79b36dfa-42a1-437e-8405-10105fb7aa35 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:add4b0ea-cdbf-4803-833d-91a6ef8b42a4 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:25b22515-723c-4d34-b5cc-8875cd0f25b5 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:9938bc2c-0c73-48f9-b6ef-23253d3efcaa phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:ccca8594-7d28-46e8-abd9-bceef372c233 phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:61c76240-feaf-4c82-92fa-dacb6e564b9f phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:36745799 uuid:0447864b-3911-46c3-bdac-cc916d140a8b phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745799 uuid:17e5d9c3-920e-43b7-a91f-505df3b88622 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:16b78d0d-c2bd-4f9a-853d-8b89613d97ba phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:90e304b6-eb2e-4bbe-8943-d0eba4e241d0 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0012240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:289c734b-9977-40f3-9a46-24eb69b1588a phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:c0eb0cb7-5111-4ce0-9ba5-3f5adcf8005d phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0030099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:ce92dc40-9080-4f45-a364-ed62383db73a phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:cad033a4-f7c8-4ebf-84f2-8e0907198506 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:790179ea-7ef1-43de-b93a-6e8c630b1b94 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:def4ca58-b2ac-4cea-9d42-25bda2409078 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:0c018e0c-2013-4393-8113-ae50da4a00a0 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:6eb0df0c-dfbb-4633-8b45-c928a306ef30 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:58931c84-b660-4eee-bce0-b9d5bf05cf90 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:effcbbcd-d80e-4c44-acc5-0a0295b348ed phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:75dc2cc2-582a-44a1-9189-c60846a0a602 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:a96f9b18-979c-4e9e-9296-73f66e1e78c5 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:d9990356-638b-41ab-bae5-ba36885a2eb7 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:77d2c47c-479d-4958-9aa8-8fed9078a5f5 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0010602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:32dc834e-e5f4-4c4b-940c-c6e8a203f754 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:c7abac55-a5fb-4256-bad4-d250e4f58fea phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:11ac536b-f574-4437-aef2-997dc8869dde phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:7e450b76-a9d2-4cb9-971a-a76bbcdcb208 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:37167966 uuid:c09c6d96-bba3-4cb3-b547-6e39d81f321a phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:3536af89-1cc1-4f72-b371-32e6db504054 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:1d6cf200-e888-4202-9a5c-efbc271933e4 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:e1c8a09b-1ccc-47f9-a3c0-2052774a0dc8 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0410174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:27e677a1-6558-4e45-a3f3-a3f1e449aad2 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:59ea84e1-d03f-4aad-a937-501ed8b16a7f phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:e69b0fcc-7f11-464d-9a91-1f151f80e618 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:b9faa08c-8d05-4711-a8a6-163eef872196 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:a2e8c588-2747-42f6-a184-9cfbdef62e68 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:21f1edf4-8e48-4e0e-b92c-9f04b32bb51c phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:6b60b4f9-72c4-4249-8695-be8602aa7bec phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:41166bd7-c709-451c-8ba2-66d9460e037e phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:94a145d4-1346-4166-a4c2-f087327a4545 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:530a5523-4867-478a-a555-033557ecdcfa phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0025691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:e18283ba-7808-42ca-b1df-4261638cbaea phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:22a67527-380b-4974-9496-a56c71e2a38b phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:3b6848b7-6fef-41d4-91b7-2f5c81220cd4 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0025168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:0b2c06f1-972d-4858-86a1-03bccf917de7 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:c537f291-2f96-4b9e-aa99-b90232998a6c phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:6f1cb3c9-5be6-4475-a365-c12af50fd468 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:607b9786-2186-4563-ba76-7f1673ba0119 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:0133e918-44fd-4ec2-b36d-d00d666650dd phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:983dcf8d-ab56-4c44-9a8f-518115837a1f phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:36745799 uuid:8386db90-d90f-439b-a1d3-23c65ed1c505 phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745799 uuid:0b4d8807-ca94-45a7-aaae-9a6f61f96f85 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:188ba0bf-2577-483f-a4d5-fc4e500adfdc phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:cfdd3b0e-031e-4408-b4d8-5194699b639c phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:4d696062-ddbe-4e8c-8a4f-09ed3ed35b4e phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:19ff947c-25bf-4165-9381-c35f641228f3 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:2a42fb3b-94dc-4a99-8d8c-1d56fd9340eb phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:37167966 uuid:282c028e-88b0-48da-9ed9-6b225e2a83a5 phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:fe82a7ab-aa54-4672-b117-794092428476 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:1f5240c3-f443-4912-8500-60ff881f4813 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:11a1d5ee-2306-41e7-81cf-b8609538ae9b phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:c1bf1fa2-09f5-4620-91b9-01bb3d1b6661 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:a2add274-bd57-413a-b5a0-28468ded8dc4 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:ffffccd4-92b1-4d71-86c8-26813cc6839c phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:df811ec0-6bf9-4f45-bada-6becee2cbe92 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:1f8a0e9d-9cae-490e-99f1-ecc11b08e9a1 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:a42c44b0-72a9-4000-9b53-a0436fa0b72f phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:d5b90030-c77c-46f3-9b8b-f77e74e34a43 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0025691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:536b7d04-20d7-4a89-bb85-6a0cb2347598 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:3c4befca-4f04-484f-a0a4-4e908ebaed16 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:ab94dd0a-d7cd-45ed-ab6e-b17877cf38d5 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:50c9c291-bd74-4aec-8a8c-57234957c481 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:e8ad6c0c-5660-4fa5-99f6-9a0c1717df51 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:f9c53e0e-f192-468e-8f81-a2a77aba5cab phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:54e1cb70-23c3-42e8-9aae-4e6e8604de07 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:6e739b9a-5337-4b08-9317-f76826e36f50 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:e5d4a039-e59e-4f12-b463-e250145a5c9e phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:5f3e3b34-8315-4311-aad8-92a9bc7c3fce phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:36745799 uuid:436ab08f-a8d0-4003-b8e5-9bf9da249d27 phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745799 uuid:ae3631bd-4a5f-4e55-9838-09cabe33b85f phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:cf7bea0d-75bd-4ee9-8e7b-bc2a91175ad6 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:b4408c46-2842-433f-9d00-b0e765703e28 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0100299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:651dc44f-1780-40e7-94f6-81c50789584f phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5694b2ed-820f-4f0c-acba-b6bd7a36b23d phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:a167a07c-2ed8-4d69-9d74-2cdefdeb98c6 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:6e1106d9-a25e-4d69-bc42-87ed563772ad phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5b178fc9-e88b-4d19-963a-bb454d833b7e phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:4a83a574-ca83-479b-bbad-623ce151e445 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:8415c3e3-b576-40a4-a390-26fd5d7077e1 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:615d15dc-591c-4f0d-af38-6c6edc229c26 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:2cbcc1b4-2028-439f-9ecd-6a129244fdfb phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:5930c1d7-40fc-4059-b5ba-75afa18159d5 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0012240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:44a5b89a-dda1-4d80-b735-ceae39fdcfad phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0010602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:cac5d8b3-7de8-4242-9bd3-bb2a226daeb7 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:6e9d07aa-16bf-4e8c-9694-1e7d52427f6b phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:f7064178-3dd7-448e-91e7-698f1df7de81 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:8d3f1fff-b019-4e06-aa0b-36e5436b3e42 phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:98f7b76b-f427-4415-9d61-55c53367b98a phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P1Y8M infores:phenopacket-store PMID:37167966 uuid:b8e56e9b-852a-429c-9ddf-8574a8ee1c6c phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:f02d19f1-f9e2-4681-8e7c-f934616c576a phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:3a2fa41d-a2aa-4023-9f61-93d8c0a53cd4 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0012240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:c08a37d1-5edd-418b-867a-26e8b5238e8b phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:bfbc5180-7241-481d-b49e-95fe28443aab phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0030099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:775db93b-b63f-402d-a853-58967cd8ee4f phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:591e520d-ee04-43fc-b957-e4cc6ebc3752 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:8eb66788-0d1a-41b6-b876-5ad0cdc05242 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:5d7e0085-42e3-47cf-b61c-a6a8bb98baae phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:61ab6c84-b27a-4b97-9518-1b10def6015d phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:06c38445-dd06-4d80-9f07-af11e48bd04b phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:7f06b9d0-0216-4976-913c-a708f4896607 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0010602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:9866ea1e-47a9-48b9-8da6-9375789b470d phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:8914bc0c-54eb-483b-bd9e-76410e889041 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:6436d083-6f58-46c1-8bee-d7186f19f608 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:8c9a8dbc-4d25-4fa3-97f8-75af69223e95 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:89e3a1aa-f263-4382-b858-b34928a71420 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:94c57e83-3f28-4cd4-967a-7454b7686586 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:d08ea337-6898-4ecc-8540-5622e4d0f95d phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:4a835da8-693e-400d-ac37-9341eb798563 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:37167966 uuid:cdcd0a5d-dd4e-4524-a301-141031b19c66 phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:276acb0f-f610-4018-86a7-479a225ab4ce phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:263e323d-bb94-42cc-b429-730f3868eceb phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:195807fd-31ba-439b-8e1c-c55b34339a15 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:577997fc-f974-430f-ae0d-1f1c714310b5 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:87d3d9f0-fe7f-49d8-9fea-52de074466f0 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:09901c2e-33aa-44ee-9eec-059498053396 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:4d369bbe-e277-4808-a6de-edc11c00f77b phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:ecf48ef9-601c-4a6c-84b5-cde807815ac7 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:fa894fd7-d63a-4ada-b851-3f5ab909bbd8 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:9301f13f-538e-49bc-bc1e-45bbcc5b2611 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:37167966 uuid:1fbf3f40-7f2f-4030-af55-3ed7dce16359 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:640357b0-f075-4d2a-a878-5e204c8b77a3 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0410174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:f57e8b0a-e4e6-4b85-bd08-4325287aafef phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:34914afa-1fff-4925-ae6d-67767626f049 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:175cc798-c8d7-48f5-b653-09dea7c998e5 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:80262093-f4c3-4c09-9a7f-1b1279946170 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:27586ad5-b5af-4684-8e3c-dfaf2f2a2db7 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0025691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:f9e80f82-6df5-4b2a-a9a2-903eeb787a52 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:9d66a308-61f3-41c7-933f-856c1d255531 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:bb516280-d8fb-469a-b5b6-6b658960b605 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:6b482bd7-955d-4b90-b3b9-260b56c7c65f phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:9c31bc48-3226-4be9-90b0-7c15b722adfb phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:f95399db-5bb5-452b-9642-35caa19e96cd phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0025168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:d7dc2392-448c-4d79-a9e8-170cd3a00784 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:39890a70-a924-4eb6-b66d-ef006738bc31 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:ca2bfc2f-ef05-46db-af83-b9a9e178a6a4 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:d46f40a5-3f22-4480-922d-18a161f5bf58 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:50e744d0-7074-4c4f-af95-ded7af2e9bfb phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:06054378-bc64-480e-b43a-198ac7ac2e32 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:03931381-0113-45ec-96e0-03b570b837bc phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:4d3f40d1-d597-4a47-b892-5d58d23b6357 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:37676b9c-8eb6-462f-ae1b-aa36e940cf91 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:36745799 uuid:eb37ac1c-3d82-41f4-ab0f-ac499a81e915 phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745799 uuid:f071db89-4d78-49e2-b0fe-f493ec8a62e3 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:ee9ac1a9-d893-4d04-ae3d-54e809f17083 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:b959cc40-4b22-4f63-82be-e26e1556c021 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0410174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:2c75bf7e-7e81-45ed-b846-793a5ec44d39 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:ae0c2abb-9089-46df-a3af-4bfde9c61e92 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0025168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:6c95ebe9-20aa-429b-ac49-807d0fee04d2 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:1e4fef0b-154c-4cb6-83ef-4c65f33ddc01 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:75db1a5b-a70c-4911-bb52-0c8ebedb271f phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:fe90b0fc-add4-4f99-962a-589eaa58ffa7 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:5d224dbd-da1d-4d0c-8087-01a5a75c4022 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:8543072d-4247-4aec-a54c-c2dd7ff8f2b9 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:e5fdf8fd-6a94-407d-9981-14c5f95a65a3 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:0e77dce5-53f1-4e53-9cfc-68e3b12ef761 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:afa03b0a-cfaf-4534-ad43-ad974a57aa81 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:5341b8b1-f537-42cb-9e5e-2dc24e767696 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0025691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745799 uuid:a59b9b0f-88c5-4c0a-9ea7-c9ab51ec4150 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:ef1f9f27-3824-4123-b3db-236946a3ab86 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:837dc82b-08a4-4248-9183-2fb09a9440a5 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:58699771-b01d-4eb0-a5bb-e40d163a6077 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:e5d3f1ac-131b-48fb-bbf0-bd8c21c9a7e0 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:debedea9-9820-441b-bd59-9218d6806328 phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745799 uuid:f13cd1a1-d9a9-4acf-88df-d026a2808fab phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:36745799 uuid:f01deea1-05ff-4919-a150-ac44b0243cdd phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745799 uuid:99331bf7-4df1-4f48-aaa7-a8b4390e75de phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:50bb0ad0-5710-4d2a-bcb9-9a68b4384763 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:b54fe1ac-a633-4461-a098-49342125ea86 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:8304c05e-5a3e-47fd-b9a9-292f57082d27 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:a54361e6-55cc-48a0-b546-484f8070ef7f phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:c39e8a2c-abe5-4bbe-abfb-d398159c9744 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:63bea61c-1ceb-4d3c-8df7-213bd0eb6ece phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37167966 uuid:9759427a-849e-4dba-8906-b08f02609f9c phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:1af78991-d753-452a-91c0-5c6f75dd5f5b phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:5aeb2efb-ac65-4d72-a543-37f058736fcf phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37167966 uuid:7bba898e-24c8-4872-96be-2c7519fc64e3 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_disease OMIM:620375 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37167966 uuid:98dc5d48-dee2-401a-b0fa-f6780f3056e3 phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:has_gene HGNC:5006 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37167966 uuid:d6a387f7-af2a-4999-8233-16c0aa0b284c phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:19a62cdf-ad9b-4eee-8aa4-7ae80b2e0987 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:14293d1b-f5f2-42e3-a4a8-e864b0bf0ff0 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:b72204b0-7ce9-426a-85f1-db2ba1873bc6 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:125ee157-1976-4cb8-9ec4-b730a73d44f4 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:08d1f2ea-810a-4a46-8fb6-3aa529332f44 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:230580a2-1468-4d86-a63b-ca115e782308 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:31392109 uuid:dbe46d38-52d3-487c-af7b-e5db1e2f8cde phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31392109 uuid:93b1175d-3d9c-40f3-99e8-4eee1b7012ef phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31392109 uuid:a2719460-5c12-427a-a825-71032e084ba8 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31392109 uuid:5a1c3381-94b7-4d98-ae60-14b10b72ee19 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31392109 uuid:7c2f6ae9-fe16-4c5a-b3d0-db35dc6a8b7d phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31392109 uuid:e754e279-5134-44ec-8ae5-567897f49b8b phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31392109 uuid:997b59af-080a-46fd-bb35-55d8dcbafb35 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31392109 uuid:f17083ff-0e7e-4761-8dfa-2de52f9756f8 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31392109 uuid:1bf6c889-9b2e-44ba-a573-5982bc1a1632 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:31392109 uuid:1e953f02-9332-48e7-ad55-f31e5b242b76 phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31392109 uuid:8c479ae6-ab68-48bb-a700-8e8b974aa278 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29030856 uuid:c1b62098-f63b-4248-9e8b-d9bb832a4404 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29030856 uuid:269fa635-982f-4442-a17f-fbcbaeeb680b phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29030856 uuid:03d6f49b-a4b0-4a47-9562-c23068673330 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29030856 uuid:e8ea8ff7-3407-4211-bef9-4a80171c48ec phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29030856 uuid:df4597aa-562d-4566-8291-316cfd936437 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29030856 uuid:b0319f8f-17b6-41c0-a458-cc1237dedd01 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:29030856 uuid:761d96be-55b4-44c2-9eee-ef0b0ea31ed9 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:6001114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:29030856 uuid:9709557a-e21b-44ac-9b5a-f8a546071a6f phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0033213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:29030856 uuid:aede4abe-8bc3-460b-b865-7635f1629497 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:29030856 uuid:2f63347f-6a41-4c66-9ae1-00ea1d1d9e35 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15M infores:phenopacket-store PMID:29030856 uuid:987b19de-a39c-4963-9282-a2e34f85bd42 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29030856 uuid:79e8aea9-6f17-4e28-a820-e6b826536ef7 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29030856 uuid:a8c4bbad-91a0-4eb6-8da3-c7b85784d7ac phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0033407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29030856 uuid:d7757751-e489-4f8d-aff5-a60249679540 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29030856 uuid:57a3e71b-5588-4dfc-8d62-38ed775d5a6b phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29030856 uuid:f2e5546d-c26d-4de6-b1ff-258d1239cdad phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29030856 uuid:0f6fffee-cc9a-4ba5-b427-5cb23b79b078 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:29030856 uuid:de72b81e-76d0-4318-a354-bc7bbd2210f3 phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29030856 uuid:603bff6e-700b-4c02-8110-7bfd01a0748c phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:3bb13c1b-fcbd-4bda-a177-0d69aa980d7c phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:e3a777f7-51fd-4bef-bbb9-57e4bf175c74 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:dba58dbb-5b80-46a0-8794-d6f3e59ec585 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:e18aaaf1-55ac-4ebe-a1c4-98650e7def85 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f17b4e07-9131-4fbe-b45c-2c14d621eee9 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:ab4e1d5c-bba6-4d50-b24e-7720aa90d532 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:7879aac5-73e8-4f94-8d44-c9665ea4bedc phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:e3aa682a-10df-49cc-91a8-f23986123f5b phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:d3b2e932-0ba6-40c8-9638-220b6ebf535d phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:425b7817-1143-483b-b9cf-32a6f4be97a9 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:23527910-19a8-4661-b308-ada354595c67 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:be9ff351-2ef5-4c94-a404-b3de614f6588 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:02b4e41c-aadd-4d91-9c74-81f743ba78e5 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:01be86d6-5634-4c13-8ed9-e3c3b5d7f92f phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:7258ac1b-bc4d-44fd-8e29-a5ba95d2528f phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:53d2a375-0d74-4a9e-9c9c-d83e87ffbe59 phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:658ac1e0-8aae-43de-990b-5088803c993f phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:35308163 uuid:0aff5319-ca50-41d8-80ac-ba9121a5f1db phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:2408935f-4e60-45ab-a70f-ff8f92a9224b phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:3a02a496-21da-4410-a261-4ef52aa54e7a phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:600598c3-a6e5-4728-9b66-d3b3c10b26b0 phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:0c0391a5-906b-4b4f-b859-9edd70f4a410 phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:6f5732ff-22b8-4f74-b1d5-ca07f584abfa phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:9efedfc0-3673-4e9d-81b9-cf34b8d063c2 phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:a9864b05-ceb0-49c4-bb55-48b009e8f177 phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25511235 uuid:a6d27f81-8751-498b-b491-8b4a2bb35408 phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:e0931754-412e-40d4-ac38-3eed2d444d6e phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:69e77e5c-6a19-4e3f-9d23-7d88d42c4d16 phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:c5b53319-69fe-48db-965b-d5ee69a2c291 phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:99f844f3-5087-414f-bce0-5e065844e948 phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:8f379b04-12b2-4ce3-af9b-38d6086a8cf9 phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:79dfc1ab-033d-4a6f-a51b-c7266e15959a phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:25511235 uuid:8f265427-b8b2-417d-a8f6-0f7b10e86499 phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:a2972f1d-8835-4ada-a462-3fa4fc130bfc phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:39143735 uuid:858fa2d9-28b1-41b2-9509-c7b54dcd10f7 phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:39143735 uuid:fe3d6169-5dbf-4ecf-a948-57bfb6f3cc9b phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y1M infores:phenopacket-store PMID:39143735 uuid:09a6efb7-fed8-42e7-bf2e-9711ad970674 phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:39143735 uuid:2d0186b6-24ca-48d0-892d-626817c9cac9 phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39143735 uuid:e12939fd-2470-4218-9c4e-bbecba9d982e phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39143735 uuid:d4325c06-e110-42f1-8bcb-a5a834a6ec9d phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39143735 uuid:198054cb-adf8-4507-b888-fdeebc147024 phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39143735 uuid:af9e00e5-9663-4042-bfd9-1378a05aed66 phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39143735 uuid:a74281f9-bf31-4e30-b49f-1ddd8043df3e phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39143735 uuid:9988983e-ac80-4f8c-99e3-47dce9b6840b phenopacket.store:HMGCS2.PMID_25511235_A2_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:3dfd3411-8ebd-4496-8fdd-db813bbedb7d phenopacket.store:HMGCS2.PMID_25511235_A2_1 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:a3ddc3b4-84ae-4f15-af0b-81236c30af94 phenopacket.store:HMGCS2.PMID_25511235_A2_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:7b691874-81aa-4fc0-954e-e52b42f1d21d phenopacket.store:HMGCS2.PMID_25511235_A2_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P3Y1M infores:phenopacket-store PMID:25511235 uuid:0fc1d75d-f8a1-4915-8038-f174bf3423cb phenopacket.store:HMGCS2.PMID_25511235_A2_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:80dce3d1-9fa5-484c-b8c5-bf65ba2a99ef phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:42dcd14b-1168-4247-9b38-a6d72440434b phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:55870df2-d7d9-4f85-9b9f-2230a61f5341 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:4a5cdc87-8be3-4fa4-912f-47a820341d3e phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:a3ee87c7-f8e3-4bf2-9cfe-78a4085b9de2 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:941bab67-7d73-4084-aa6b-bfcf6cfabeda phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:e41c6292-f9f5-42a4-aa3a-6aeae14c5e56 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:2f143802-f318-4b96-8e1d-8c512a7238a2 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:80c7be90-82d3-4ba6-865a-7828ebc04930 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:ebc9a765-e121-4054-94f7-4120d62250c0 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:c554f1b6-cb13-4002-8006-56d75e50a4f6 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:bad73588-6fdb-4940-b61b-9045d88a995e phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:5736c047-a616-4852-95c6-ef04c8cf694d phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:0cd4fe07-5c36-44fc-a6a0-94531dd6586c phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:39656c82-c5a7-40d4-971d-a966a1274eeb phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:3246379f-f29f-48e8-8f31-2dc9f9d6c974 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:29597274 uuid:60b7a6a4-4272-4ecd-8389-c5d7c83fbec5 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29597274 uuid:cdaf1983-850e-43cf-baa7-19d08ed6eaef phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:fd6cf3c2-0116-44d1-99fd-c0633f945de9 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:3fc4ccc9-e6a3-428c-bbd9-b9f44661a2d0 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:4db27111-0d46-4baa-83f1-a1fc25f236a6 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:666cea90-0ff6-4d25-af4b-523fcec23e8b phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0033407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:6a6f5cdb-8f4a-45dd-86bd-dc07a2a6508f phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:f78ff10d-9fe8-422b-8a9a-0af57dc33d6a phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:6001114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:c96dd988-9a3f-464a-b0d4-e5f00ac6aa34 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0003219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:209fb2de-b8dd-4e9e-afe1-5a55a4321dd8 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0033213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:60c0b3e3-069e-4107-985c-60cc374bceb8 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0500252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:276ad88f-f7ac-4b4f-9d60-65bca174aa0f phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0040301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:0ea78fb0-3dda-4694-b95e-1093c526f50f phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31597564 uuid:67590234-bc00-4f81-a449-16437470ee73 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31597564 uuid:db801d7e-9128-484c-a655-5b03daf1b233 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31597564 uuid:cb0c43b7-7559-412e-b787-541453739485 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31597564 uuid:958e12ca-ba1d-41df-b035-1172a35e658d phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31597564 uuid:5ea9fa2b-3b5f-4d78-a5e0-40417900a256 phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31597564 uuid:a7b995fd-0219-49e5-9415-94d94c0b9afb phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:f62efba0-42aa-46e2-a2b6-6065beebacca phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:486c7da8-b965-4a40-96b5-7b94202dca13 phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:93c8ebad-4b4b-4f06-a7e3-7934b50a3b27 phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:b5910ffe-d6da-44a6-894e-956d36dfb76d phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:7356f64f-bf18-40f0-86c7-79393048c61d phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:4f8be83f-7a7d-45d8-8d79-e48650a173c7 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:12072887 uuid:bca89aef-4351-4d6d-94f7-b4e5991a63e7 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:12072887 uuid:49f71032-1730-40b4-a621-be5d5638ab37 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:12072887 uuid:5052370f-e880-450b-a09e-3ec5af0bce85 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:12072887 uuid:e7a734dd-4962-4b23-bdaf-c29c7c0c23c7 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12072887 uuid:1348b654-5928-499e-9a00-1fe59a5a3ee5 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12072887 uuid:40284487-163d-4297-9911-0ac5cac85246 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12072887 uuid:57a2b59d-8846-43c6-8767-1c4a0b0bdc21 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12072887 uuid:ae0d7595-abfa-4bc8-b028-e02217d70a20 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:12072887 uuid:454775c8-de23-4730-a4ee-d32f4e98e4a8 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12072887 uuid:67a8c22b-764a-455b-b1d2-fc62668f79f3 phenopacket.store:HMGCS2.PMID_25511235_A4_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:46cad9c8-30fa-4d83-a68a-5ac3741092af phenopacket.store:HMGCS2.PMID_25511235_A4_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:ccfaae2a-b695-4dd0-89ef-4eaabe289e06 phenopacket.store:HMGCS2.PMID_25511235_A4_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P2Y5M infores:phenopacket-store PMID:25511235 uuid:c237d27a-a571-45c9-8fb1-399d6aac0499 phenopacket.store:HMGCS2.PMID_25511235_A4_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:7f90269a-be20-4d19-a0b6-2c4f9d3285a7 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:b73d4c55-6cb4-4a70-a6aa-ee5f99b822ee phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:13008a55-6fca-457b-9e32-f4bc8f43125f phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:919a3ea5-3f86-4e37-be1c-bb3aa5939774 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a6d9a68b-c609-4af0-971b-2ebef768f191 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:246465b7-53a3-4789-bf14-ebcf859a5532 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:85068d37-7840-47ff-afe7-3efaf4be968c phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:1e8b4a38-967e-4482-be2a-b4d1cc37ede7 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:77d4956b-2fe9-4fe0-a473-d612722b421b phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:654ffb63-204f-4add-ac71-f74ad5594a94 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:5e2087c9-c559-44fc-a69c-2fc690118da4 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:87c6064d-5305-499c-8ee2-1991c7362404 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:6f926c61-4321-49d4-b724-ba273b77fc82 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:5c5f29c1-5723-4a74-9c9c-c784daa343b0 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f48e50a3-1567-410d-989b-05bda0f99f71 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:ef008936-ee66-4c7b-bee8-eea906b7169d phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:5e0f4505-3f13-49ff-a782-1743db801c4b phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:da62fb00-fdb7-4206-b077-2f6631df8035 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:35308163 uuid:d8b8642d-b1f7-44b9-ba1e-e05c55440f39 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:5ffe01b7-edb1-4433-8bd2-62f1126d56af phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33045405 uuid:781b6679-0831-4091-ba51-72d440cfea7b phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0002570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33045405 uuid:e87a8fca-1393-4576-867a-8aaa2c67c66f phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33045405 uuid:46ed72e3-7143-4471-8c99-713a8d525e8a phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33045405 uuid:9d8a4f97-40eb-45d8-b61f-464078d129fb phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33045405 uuid:c1106096-92dc-4ad4-a57a-69c48accb70e phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33045405 uuid:dea4e235-4fed-4b22-b9ed-6beb4955e34f phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:0596cbbf-7438-4b35-a12c-d3d73c21866b phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:2a7c3a41-c081-47ad-b6e3-9750fef6382f phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:08011698-b9c6-44b3-85f7-2c69b1964fb0 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:dff12a8c-1cca-44ba-9be4-2ec0b2a989e8 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:5f8be88f-dab7-4c0d-953f-a5dcb1d00c65 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:f6c8baff-3bcb-472c-a567-c01583a8bea4 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:21d549a4-4a3a-4566-922c-737c20e3f81b phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:eb3c40db-5d1d-4f0c-85a9-8f4b892d6eb0 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:74d4434e-b22b-449e-8609-9a66eb382232 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:33045405 uuid:0afc40cd-6647-4dc4-9ca0-534dc41d71cd phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33045405 uuid:53908039-3c17-43e3-9466-4be4df0dc439 phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:355114bb-d957-4a2f-ba60-c1b12284191a phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:b09e1579-fc11-4245-a962-57bcfe3472e3 phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:6c71112b-3357-41d6-958b-37abea375f99 phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:4e13b45b-9d1e-4528-b327-28c37548cf20 phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:2c72b8ec-1c08-4c88-921c-50f4909eeb10 phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:2ec55376-c946-481f-b377-6951696800c5 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:11228257 uuid:79bc7bab-de40-4b59-825c-0eed00f7d34d phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:11228257 uuid:701fbf02-37ef-4cc6-be0c-be64148d54d1 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:11228257 uuid:abe089a1-546c-454d-972b-7407e200a0e2 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:34829a17-e1d1-4ae9-9193-e50ece9ba470 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:1e0e8ea3-7351-429f-bf12-db2a4b6e5abc phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:cc7a3b76-5a6d-4d3a-a080-fb7e51de55dd phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:e97352b5-e538-4e31-a477-14b7a7359c04 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:2c9e723b-e237-4817-a5c1-08d1975e248b phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:f756b0f2-1c50-485a-a190-ca3bc1a6747e phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:6a707403-cb10-4ff1-95c5-ee7d88c9f9c4 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:04a8d3dd-27ca-4ca5-97d0-db5a44cb107a phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:e69bfd3b-439f-4ebf-8992-76dad1cfd1a6 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0003219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:116ae93b-9aaf-4b06-8a0c-0a205d7674f1 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:5525c183-a18b-4bc3-a3ab-f60babc71133 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:11228257 uuid:4e8c6a1e-261b-4fa2-87d5-3cb5da185ec2 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11228257 uuid:a23ba83c-01ec-4220-8ca2-ea23a4be245f phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:2bc29c52-75cb-47a2-9947-31050bb894f1 phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:9ed7961f-eca9-4539-86c5-f8f7d55616c1 phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:43801ed7-9695-416d-9781-31dcbc27da84 phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:29e8b0ac-71fc-40c5-abe1-0f258b18e188 phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:3a313117-9bfe-4b90-835d-4d0e06aab9e2 phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:ff4ad727-e0eb-4615-8c68-945be8dbac6f phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f29173d4-2730-4e31-be03-7cbfe6893116 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:4fa3a18a-686d-407a-b388-a6175f5d01ae phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:712f9c4c-0503-44d2-950f-0fed2d0a7170 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:e45f8f4e-9fa9-4bad-b889-8b7e7e63e3f1 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:7560fe9d-b186-4ae1-ab30-e36e47ad043d phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:76c7b7eb-58df-4c2f-92b8-235c195046c0 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:cd9e3214-9458-48a0-aa6c-c5e11e4f8031 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:9f0918be-8f87-4ed1-8a5b-e30f153b2d6b phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:9d9da22c-8a98-4048-b27d-a392cdb9122e phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:4975da3e-c517-4e19-baca-5f137856b47a phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:8016b771-73e2-46dc-a29b-01acf35968c5 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:e4313424-8a7b-4e4f-8da5-178605df7ee0 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:37e9fc00-28c6-491e-8636-a205228400bb phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:7db84071-5619-4e8f-bd31-6aacc8aede21 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:56629361-b395-4374-9d08-f14f23a08329 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:d193c8d7-79ae-4e63-bae7-210c9579ab03 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:6b931dcc-511e-4440-a2be-392c28c05d7a phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:35308163 uuid:70fedaf4-f245-47cb-84ff-e90aed9e65be phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:1a359ed1-1504-4adc-a42c-27ac96d14940 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:975f0bf7-ad54-4a9e-9b27-b4907e33582f phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:f3f25b7b-d16e-4f83-82b5-c2ec6e2c5af0 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:ffb78f3f-1b38-4d28-9015-96e2af63bec6 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:6ec99b05-3706-4634-aad0-b243b96c0bd3 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:bef3326a-8361-4682-9818-2c7fc0cebf12 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:6cb5f31b-817e-424f-b296-8deb286921a3 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:1b08bdbc-c1e9-4ec9-ba6c-1c839cd5aab1 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29597274 uuid:74eedf29-7bf1-4540-a4db-866d83658020 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:c67ddee2-1d12-4c16-91dd-99b49acd6724 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:1a1fd146-7687-4d7a-90ca-0dcd3b9234bf phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:34e223d4-4083-4b99-bb13-1bbd8dc22d39 phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:9ea9a31d-d56a-43f2-a328-98c5d82d91ad phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:2e7f617a-630d-4501-a3ca-09a5a46e079c phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29597274 uuid:8fca8909-c575-46e4-b54c-060fe9cdf2bd phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29597274 uuid:ad029086-6b01-483f-a161-c197e267761b phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29597274 uuid:8c7355f0-38d2-4a2d-a40a-ebbaf0a8c241 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:65c312b0-79ff-4fa0-b6bd-42515b04c7dc phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:de272a49-9898-4dc4-9f83-1df4aac5a156 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:53087735-2d02-4c84-bdec-7a206902cb80 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f7281e45-d6ab-4c79-87b7-f47dbbcbf2a6 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:dc804729-ea05-4f21-a832-94153aaa6906 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:184e9c52-985b-486c-8ef4-c561bec9b0e2 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:12a90690-419b-4e6b-bd51-d8ec583c9274 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:d6c56e35-608a-460e-b285-16346eab02ed phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:36c3349c-33e7-4372-8517-2f8126f728dc phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:6381f3f0-51e1-49dd-b165-e1a92c709e62 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:36f23c3c-8691-47a7-adba-e93746534b40 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:8464aefe-3d1e-4e88-971f-32678c77b7e9 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:377e98de-1911-4267-b2f3-69b2539ac910 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:8560276a-c29e-467b-a9c2-3afd5fd94876 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:a5c0ac29-d476-4e47-b497-0fce5df3af6d phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:3c919f85-76f2-4d3b-be4d-706783d70bd8 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:f6a3b814-992e-440a-b558-b1e1edeb2cc2 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:35308163 uuid:e45186cb-0042-4ddd-bc22-3896b60ef901 phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:65436aa8-9c84-4b07-a488-d284b172c7f2 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:a7f874d7-8a15-43dc-bd34-e2626b4e02e9 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:00a26f5c-d283-47bc-bebb-d6d01b84b541 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:091655a0-ad35-4fef-b3f3-82be3145b551 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:c55d1389-e810-4b91-9d14-d71eca527fe6 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:176b0605-2ae8-4890-a389-e18813c3cebb phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0008315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:4dda9bfe-f115-44b7-98ba-2eff9939ed55 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:16601895 uuid:c1f94f06-149a-411f-a19a-edfbbb563ed2 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16601895 uuid:b83d07f3-ab98-42e6-bc47-5fcf692eead4 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16601895 uuid:2eab9b27-e41e-46b3-b2b4-7f2f1e5f2b47 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16601895 uuid:eea5a741-558b-413e-bde0-a0884d9a3c6f phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16601895 uuid:fe292f95-9255-4156-b1ac-5560427566e3 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:16601895 uuid:3d1e9871-dc01-4270-b117-ff0b4a9971e7 phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16601895 uuid:c45cd969-e946-4e28-a79b-2f0082692ec9 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a866ba61-f578-4ff9-a8a6-e4d6d198dee7 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:748b35bd-6b29-4900-9713-4ff997439937 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:26d8ed37-30e7-43b1-9c95-69022d5ae2de phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:61ae2a95-3dbb-436f-a8b4-451132a62e63 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:c7d227a5-8be8-406d-8aab-f3d2a43c924f phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:53deadc1-1fd9-406d-8bd6-ab4a289526f3 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:c26ef985-d0dd-42b1-9470-f5bfdd880351 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:bfe5f3c9-2548-46ec-bd5f-6344dc787716 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:2112a30f-9ab4-47f0-ae17-29185a4e7367 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:721c5501-9330-4871-9f51-a66b97e80d8a phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:0adc1c2e-953c-46b8-9089-145403a4cbdc phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:124ab239-74bd-4474-adec-7ce9f0c96676 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:4d97f11e-6bba-4f36-882a-abf782e96f9a phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:941a9715-896d-4d8f-95e9-cf5269bce203 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:4056320c-664c-4763-9814-11fcfb58ec2c phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:ae0c3856-404c-489c-9533-fc00bc39c085 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:aa7a324f-d51b-442a-9c7d-6c29786255ac phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:35308163 uuid:1679ec12-3f3a-44db-9894-0d6f3d7182c0 phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:c5c2c847-ec27-47ce-9c8a-b340b00d8748 phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:0d9e47a1-4acf-4696-8b46-fb576c5b4893 phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:08287dc6-39a6-4659-9b7b-9979fe39456c phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:6bb2e03b-11dc-4584-9bf1-ee86483880e1 phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:6ce9e61b-df49-472f-8076-f6285171ef9e phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:f77525f8-4dd2-4402-9e9c-b4c3fb89c57d phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:b4dd4d8d-0061-4afe-85ce-e9a772d4a771 phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:77b65130-e6a3-405a-8393-3d0f989f38b0 phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:667fe5c1-add7-4934-bc3b-f800faacbbea phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:637722f9-0d15-4f5a-ba1b-ad43d7b18207 phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:4bed68d8-a679-4c2a-bd3f-e89b7ea4520b phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:440f4e6f-1460-4ec8-8ff5-0a5950a69e4e phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25511235 uuid:be12a75d-d9c4-487d-9cd2-c091ef4a59b6 phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:0288d893-ac28-4a3d-ad9b-e9b44010455f phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:ee05ebdd-f3d5-417e-9ad2-9221be62947a phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a90d3fdf-d6ba-438e-9f0b-ae96a22f7b97 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:1503f7b8-2cb3-41a6-a4e8-807b0bc6eec4 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f7551ab9-0e53-42ae-b2ea-ef573bf4ea3d phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:2c5a871b-20ac-4e6b-a338-86814e90976b phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a3d645f3-438e-41fc-8c3c-94d5336aed8d phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:54252d54-46c9-45a9-916b-2001b4a20d92 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f968a1a6-83ae-4f39-b297-50e692eca00a phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:142cbe55-691c-4740-b400-79af53612c3f phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:03bc6c91-3d12-4fa8-8c29-2cdd07aacb51 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:b0a24713-738b-41a8-91d1-fe4505ee5091 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:b1c3b057-adea-423b-8131-09922bc8f96a phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:04370c61-8895-4224-8ef5-f595ea6c38d7 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:65c2c078-e605-44db-83d0-0fa3f8a31c8d phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:2a06b354-1667-400a-a4e2-716bae5f0b32 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:ac4b71d6-03ea-4652-b592-3446d23b86eb phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:4485e7f4-db85-450a-b953-ce4205b38f4a phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:35308163 uuid:8f627294-e72e-46de-8c0d-79f474436dba phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:49661a41-c26c-45da-ab00-244ade30882c phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:8620853a-4356-4b8f-b9e4-e5dcb46bc16f phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:5b1994a8-6d40-411b-94c3-7211425b8dce phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:34b2488f-335f-4bca-b4eb-5afefb91a828 phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:5a622699-c762-420b-b5b0-906c7c1b252c phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:9f3f00d4-084f-4c7f-afe5-e4816dfedfdf phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:25511235 uuid:e1c65e97-68c1-47b4-aaaa-f612ce8f7982 phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:cc4e0b1f-6975-41d0-9eb9-658fca14b358 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:53f7c5b9-e626-4df8-a620-6de560d5c7d2 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:0f09d184-151a-4e55-945f-6c1419280f6a phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:26faf95b-ba82-4860-8704-7f3122ee036d phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:d9e54890-57e1-469b-81f4-a62332b8e598 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:595c3eba-8fb8-4175-a288-50331a47f4de phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:13239452-dcf1-416d-b5d9-8d923ccb0727 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:72eeca75-4559-41eb-8d02-b9b60b34fb90 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:c82c9298-ea31-4231-9348-1d29e3d35156 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:05fdc5ea-b7dd-4664-ae93-a96314624f02 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:391f8dc2-e00b-4849-94e2-a9a102a9c84c phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:59baec40-23ba-44ef-a615-5fc65353f33e phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:76b44a48-b664-46d9-ba3f-e01c19a5efef phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:42d60fa1-4d75-4586-b058-9b58c06f8ef8 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:558adb80-9a37-4437-a93d-6388d4e8c3d2 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:a743e63b-bb15-4a7e-8857-676905655b7c phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:4a304594-842f-4db5-a37a-b1c5c05c9ff4 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:74368dd3-3b6d-47cf-a72c-4379f49c6b12 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:35308163 uuid:ef5d8372-9b5b-4e24-ae37-c0424695bb05 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:37e9122b-20c2-4c70-8b1e-4e02c2cede4b phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:8f02307e-497d-4a73-be5e-57a7968bce6c phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:dd071783-e3d2-4570-b4c1-26b08ee6659f phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:71e80443-0175-4c34-9310-9b9ada4ba435 phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:b4c1a8fe-74fd-4dd4-b614-2a43a072b395 phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:25511235 uuid:7a3955b8-fc11-480e-933c-1501bffb8313 phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:d5f197aa-021c-4938-901e-1c27e8125ce1 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:33045405 uuid:6c4c592e-eea0-4eff-8a80-f9d0b9c13af8 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:33045405 uuid:f953e4b3-16cd-4874-84c5-35594075f16c phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:33045405 uuid:074eadcf-6d53-4407-b601-d5161afaa2d9 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:33045405 uuid:adcfc17b-c552-488a-9cb6-10cfe039c1a4 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:76bed19a-1671-4449-8733-8a9e9a5988b4 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:5af7394a-b4ce-4527-be34-fe438d725cf1 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:ba4d842e-5a64-4b89-86ae-6a2645101ec6 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:136fc2b5-d8b9-457b-847d-69ee1fc4553d phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:014a683a-5d50-428d-968c-00316afc59f4 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:123fdd56-b068-4e69-a0bf-ecf879e5a764 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33045405 uuid:d99e3531-c868-4f4a-b66d-1c930f7d54dd phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0002570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:d57e476f-2c1a-42d6-8b23-c97ad5327f52 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:205a7fb8-f59c-4ac3-b621-8d7432abb958 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:aab209d3-e220-4b3c-aa8a-ce8ca8a4d4a4 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33045405 uuid:21c54fc4-992d-495a-8d70-5abbcbdac106 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:33045405 uuid:15df38a0-74e7-4cc6-a182-ea941a01d68f phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33045405 uuid:a795a32d-80dc-4fde-a812-ced84c1fa1b3 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:ade4bcda-9534-442f-9bfb-8225da78af54 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:ee750233-04a1-4dab-9557-c26f4de67e9e phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:0485003e-5285-4f7a-a93e-77885cf22a80 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:8a05779b-8fb0-4ad6-82d5-357d1778dbc9 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:e5fb148d-04e0-45de-ba90-e46e09c8a3a6 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:3b5f8672-92e7-430f-803a-c98ff17256a8 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:53cce378-f0d3-4419-8fdf-d476813cd82f phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:5dd7de1d-bd96-4c0f-adaf-6d9ea5f0dc97 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:c99d4894-7c74-45b3-9bc3-20ea1540bfb4 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:15a49c8e-1f92-435e-80fe-a15787f238c3 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:117ae485-157a-4da3-b800-a22608146a4b phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:923bf640-d5c7-4127-82ce-6c6d3b9217fa phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a128ed57-d372-4484-b2b7-59e7e3131fad phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:b599b365-9aae-419c-a650-f2a389013f14 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:ecb9c4d7-8aef-4241-9f1c-e33d79572815 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:2c317a1a-9685-4804-b38c-1bed80db487e phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:15f91294-7fa1-402d-b87d-1befe48ab298 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P11M14D infores:phenopacket-store PMID:35308163 uuid:8c3cb0ed-0e0a-4ab6-97a9-6df0a226c312 phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:8584150f-c208-46c8-9b1b-838a03194f9d phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:fa41450b-0793-4889-acec-a24be9990b62 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:f696d1ac-4e44-48a3-8506-4ac1ff9d9593 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:f2af58b6-c4f9-4eeb-a821-aeda8fb9170a phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:96333c65-8c46-4fbb-9caa-fe4d7af76d24 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:07931edf-62c0-4d02-bd50-152f2cd85b7e phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:91cde1a4-c74e-41d6-98df-fc6a62b67796 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:1502ba74-657e-451d-9dc0-3f1c1543aecd phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y5M infores:phenopacket-store PMID:12647205 uuid:edd867f9-3a89-4221-b373-1a2d0e40ce0e phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:12647205 uuid:b4e6316c-aea3-4e32-89b3-13b30998b026 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12647205 uuid:7b0851b6-01a7-45bb-8591-2cc98e9db964 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12647205 uuid:3dccc6dd-c20f-4bae-8256-2ffc9ee2a0c4 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12647205 uuid:6ae4f2cc-05b0-4a7b-8203-1651338e3d15 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12647205 uuid:3bde61f7-5776-4897-baeb-78fd54aa2756 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12647205 uuid:0e7e9755-4a8d-4b7b-b36f-3806e37db3fe phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12647205 uuid:ebabc5cb-a94f-4389-930e-271321632512 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12647205 uuid:f54ebea7-5ae0-4e2b-8a54-637ba231ce5b phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P4Y5M infores:phenopacket-store PMID:12647205 uuid:cdf2724a-7b8a-41ef-8bbb-a495855d8254 phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12647205 uuid:fc2f8f4e-3192-4ba1-a5f7-8b2704f27820 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:32851297 uuid:c3664721-ec57-442a-bc67-6d4fd96fbd97 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:32851297 uuid:5bd4bcf7-873a-4dfd-8fa0-2704a5f38599 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:3bddbbf1-2aa7-4808-a05d-3eee4dae0749 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:5a74d362-9a35-4502-b735-fe9d47faa354 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:3827331d-6ac5-4c61-bfdc-c22a227d3a66 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0003150 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:c3178d58-1a72-4d1e-9ce1-f0d19456ca18 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0034656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:8edfff71-abde-401e-bf6d-6525f91d75f8 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:62a1207a-5275-45e8-87cc-b1da121f9624 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0033444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:86413cef-023e-4964-ba5d-171e2586fd3b phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0012766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:32851297 uuid:f49dd521-febc-4ae9-92de-f08e2305ac2f phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32851297 uuid:6c9ff78c-582c-4a10-b8c1-64a47253e630 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32851297 uuid:6de378c1-243c-431a-ac56-324f68a970f0 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32851297 uuid:17806f0c-6abc-4b09-b753-67002a7deb61 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32851297 uuid:737d9d1e-fe5c-4556-ab93-7c4accc44893 phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:32851297 uuid:079009ef-3086-4535-ba3a-d3300510f08e phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32851297 uuid:9f86cf89-8132-41d3-b0ec-a0a13f0da8b6 phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:c737b43f-6c28-493f-944c-0159b65edd21 phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:86c35e3a-8320-43bc-b9c7-e1dec62037e2 phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:ca0db1b3-defa-42b2-b793-676decec6b65 phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:77d84d69-f0d5-4d00-8b9b-6be623d0df8f phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:fc53dcb6-62c1-4651-a034-caf947834f3b phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:b6edc99a-bb84-4ba8-b494-2ed7d8f4bdec phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:34961a18-14d9-4bb6-874d-63c49593e043 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a174e6da-427a-4783-b94e-f53db06776ae phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:83f41a17-dc4b-469f-9991-3a7ab54bca26 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:142f3207-1561-44d1-9d09-5dc8de4a0311 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:abfa1ef2-e2db-48a4-a359-15a105b4d978 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:ff94d61f-3e58-4324-bebd-585c41d068c8 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:3d2ef84e-407e-4d04-afd1-b3b5d83cd629 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:5f911efb-a179-4703-9c68-813c679e8360 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:adb26b68-3424-4081-83e6-3608de1a505b phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:9000a78d-dd86-497b-b780-95574a0d3c16 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:3d89cc4d-b16a-4b14-8b12-4b65fa809433 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:b71d119a-164d-40e8-a369-5b5873af3f8e phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:641e902f-d52a-43b5-9cd4-9d33e7a8f3f5 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:497f87e5-1d40-4c5f-b7a0-b42057354ba3 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:90b73445-9f43-497c-8b34-4bac71d6bac0 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:bbe0d1ec-564e-404d-b810-5e99f9d42e6c phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:8f460138-18ee-4eb3-b3af-d4d3ed12c0fc phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:35308163 uuid:a1fffeba-5b4a-4aef-bd2a-887b59c0de5a phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:2e458d18-f352-4143-9c5e-037ec147703f phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:3c02d0ea-1ca3-43ee-a6ed-c875c39bc74f phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:cc416b01-4ac4-4ecf-931e-cf6de116b7e9 phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:2246fa64-727d-466e-a9ed-09612c51d890 phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:40c0ca89-b030-44dd-aeec-c2cafe5c7145 phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25511235 uuid:649d4426-734b-48aa-8906-1933b33d1e36 phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:25511235 uuid:22a94e05-2cb3-4c9e-8499-ebdb41b44d7f phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25511235 uuid:b06ac485-0ff6-423f-85e5-4f2ae35a3754 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:a03d4910-cd39-436e-b1b7-e0cc8a227cce phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:87d99dc3-34dd-46d8-b210-545ee4f3d245 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:d406ac28-a75f-4e89-9511-f1c22c453280 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:0b7ef53c-7d3e-4b46-96bd-4db91604fc2a phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:312b9da9-d759-458b-b23f-0ac3f461283b phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:5cf470e0-825e-4ebf-b95a-477d5e781e7e phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:f371f08c-e3c4-4b31-a5b1-1d31f282d899 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:1dfd6a8b-5e14-4c40-844c-9ff20eab11fe phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:9cd391b5-4bd7-4e50-a8f1-e31310c6f246 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0035023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:259ce14f-7965-4247-94ee-13695f16bcca phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:d5b99989-0333-42b4-9cda-55799c935b08 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:7e8d8e49-91bb-4b39-b245-3df7f92ceaed phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35308163 uuid:00bae20d-b562-4847-b82d-35c1fb7590f8 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:bd6ae297-81a8-4279-bf43-d568c3e98647 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:b7ce4007-3b1f-4894-84d9-b184df88d08d phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:8056c547-4525-40ab-b039-08c388c697ef phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35308163 uuid:c55cf2d5-8b15-4a70-99d1-1fb50ad6d0ac phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35308163 uuid:9900ca99-76de-4b68-b68b-0f5787c703e5 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35308163 uuid:db33bfad-7153-4f45-aaf1-f4fe90284134 phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30477625 uuid:b0ae76ad-a608-418b-8c4c-1321359a1fdd phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30477625 uuid:47ecd593-87b6-4655-9cbb-9e18f3dbf3b4 phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30477625 uuid:93d10f1c-40db-45bd-ba50-0de756aef899 phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30477625 uuid:bbeafdb5-0a40-452e-b346-23db8d023f63 phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30477625 uuid:b8ea7778-788b-4518-95d4-8a4146cc24a1 phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30477625 uuid:3019df11-9f57-4ec5-816b-1dae86208bae phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:30477625 uuid:b9b5f787-cb44-4e0d-bbb0-39de4fc68161 phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30477625 uuid:d9850007-86e0-4ff9-8150-c564964a55b3 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:11228257 uuid:15deeb7e-71ad-45f0-9bdf-c28eae648780 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:11228257 uuid:d0823dd7-a065-405b-9c90-fc6667da7f21 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:69efa2a7-4b98-450c-bc29-085ba171f2f5 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:58e5ca7c-169f-4a3c-b95e-df69c1a39c40 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:6000236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11228257 uuid:de203065-2bff-4433-ab0a-5f0eaa98345f phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:397f437e-5068-4435-9479-5d6658b628e2 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:4caf2258-e0e2-4639-b170-5cdb10a4a912 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:f9fccb49-1fb9-4330-89ca-8ae7448469f9 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:dbafe243-fc1b-49ec-b949-9416dcba8cc8 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:7f131dfd-ae15-4322-8fcd-bdb6b109522b phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0040155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:e22348ea-7dec-46c9-9371-08fb23add2a3 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:6edc6fa4-bcb4-42a6-854e-eef822989bf8 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11228257 uuid:61381586-ba36-4a13-9e4f-49aee8e9db6d phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:11228257 uuid:7959cf22-8705-468d-a379-6dd86a8b0483 phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11228257 uuid:6208b79d-5aa2-4936-955b-0393ab69de4e phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:edd46323-2e2a-4e80-b264-522b73f33ae2 phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:9ffb3d17-6132-4ffc-89bd-17a90be37d89 phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:542edf59-fb87-40f3-bd96-552efa43fa49 phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:3f576fe2-bdc0-4e9f-baf1-6c8733478d8a phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:2517c05a-0bfb-4cbc-b91a-0c9cc7e93cee phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:075070fe-3379-4ae2-aeb8-2462c7e73e59 phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:23751782 uuid:1ccc6aa8-724e-47ce-b2d6-1b76b0f4e285 phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:23751782 uuid:b4089e96-e44e-410a-ac8b-31f630aceafa phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23751782 uuid:cc7f5b93-b460-4296-a962-774539a52c92 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:11479731 uuid:b9b01f8c-0d74-4202-b90f-e3ccc3506458 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:11479731 uuid:503a4add-d881-4687-8a77-40182c3e0384 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:11479731 uuid:3c72b917-9b13-4157-9f20-ce4fe4b892fc phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:11479731 uuid:560054cf-5a0d-41de-8af3-6ccc70517c09 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:11479731 uuid:d15d97b8-c0c9-4cb6-be39-4d0ec5ba5eef phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:11479731 uuid:1de99748-89f5-400c-8c27-1be65efd0151 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479731 uuid:f1dbba7d-4694-4f08-ae98-468d91a91a20 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479731 uuid:f0505da0-344b-4584-8753-80018ffd85fa phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11479731 uuid:34450b12-741d-41d3-a63c-0306480b2259 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11479731 uuid:0810d182-a8af-4d58-ab97-7a31a5602e35 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_disease OMIM:605911 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:11479731 uuid:0cdabf81-97ed-4cc6-ba01-3ed411e435e4 phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:has_gene HGNC:5008 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11479731 uuid:910e46f1-a68f-4575-ac8a-30d2cf93560f phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0004904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29491316 uuid:98ae8042-bda8-43de-9c3a-d58ce108639d phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29491316 uuid:9c119258-ab28-4d2c-8bb8-eda7361a8995 phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29491316 uuid:c55928d7-5f47-4846-80b6-923c98bfbdaf phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:6000156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:29491316 uuid:108e0354-dfd2-4ad7-9237-e1de69eaafdf phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0005562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29491316 uuid:cc65d33a-1d41-4eac-ac3d-6fc3018e8f7d phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0025329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29491316 uuid:154c38c8-3c3a-41da-a901-ef792decd10b phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0034062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29491316 uuid:06f1268b-4c74-47e9-99a1-982ae2e1c774 phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_phenotype HP:0034063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29491316 uuid:63725430-f767-486a-8019-fead49c48c2e phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_disease OMIM:137920 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:29491316 uuid:e12cfecb-8521-4cdc-bfae-f24b67810a0e phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:has_gene HGNC:11630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29491316 uuid:e826d2fc-e3a3-48b3-ad1e-e1dacc589cf2 phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_3 biolink:has_phenotype HP:0004904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:9398836 uuid:37f4fc84-7924-4380-94ce-86db41a08a2f phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_3 biolink:has_disease OMIM:137920 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:9398836 uuid:034d2950-d640-4b08-ba52-b31b1067f89c phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_3 biolink:has_gene HGNC:11630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9398836 uuid:91be9011-efe0-4737-b0d9-ed19bbd2fbaf phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_2 biolink:has_phenotype HP:0004904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:9398836 uuid:76c5b5d0-e420-4632-b4dd-0f13ea6d5f8c phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_2 biolink:has_phenotype HP:0003076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:9398836 uuid:7789831b-88cb-46c3-a8d2-65f8f3d62191 phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_2 biolink:has_disease OMIM:137920 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:9398836 uuid:b787f1d3-687e-4bc9-a31b-d1b95b6b127d phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_2 biolink:has_gene HGNC:11630 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9398836 uuid:1522a28b-7267-460b-bd7b-ab195b3b95f3 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:adc1eefe-26db-4e34-aaed-2529d282a33a phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b355c52f-e3fc-4ca0-abb8-0cc48d14a2de phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:21108fe5-0a77-497d-ab67-dab265e1733a phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:21e456f8-d0cd-49fb-8138-993be7a2b046 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:3f88abcd-0176-4677-b963-75e3bb45f051 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:2b28b834-d203-47ce-8410-9835bc42dde3 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:8b493ee3-b104-4135-94b9-b538d10fc217 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:62e03f96-4daa-4878-a78d-bbbe6e6caf6a phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:ab6eddfc-c059-44f2-9f00-c21da484aa49 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:768e5c2b-a1e2-4f79-a7bd-0afec75dfacc phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:eda09a24-7efd-4a93-98cc-a16986bfcbe1 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:e4da9b52-e388-4760-b7e8-c08edd905de5 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:df6c059e-0dd1-4587-93a3-60ed45eb8a31 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1d2a332b-6968-4951-8990-8e87a7968edd phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:229a5253-ce38-48cb-89bb-5af1174a9691 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:105b81e2-f5a4-4242-a0be-574849e2b2c2 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e9e3bdd8-8004-4de9-9711-aa1e961afc4d phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7c8bdc0a-5cac-41d3-927f-b141261c6044 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:0d0a4e0c-d664-4c81-9eed-9f9b6b453132 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:409a7540-cb52-4866-a39b-4e876ef7b53b phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:a090cc9c-7780-412b-90f2-868d777d78fb phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:5801d64f-8da4-44cb-ba22-0d69c0969c55 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:d12fb7f3-4895-4fa8-a553-7a328d7b77bd phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:db47d2f4-229d-49ba-a4f5-f9e195cd6050 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:763662c9-ec84-4d36-aab2-66ca83f635b6 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:dc10a35a-878b-4fb2-a2da-38b900dcd900 phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:fa10eabf-d228-4f35-b13e-82ba3a8c7a35 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:ba981dfc-0b44-4baa-8809-2a0f9561e1a9 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:2354f992-2546-451b-af0a-999fd192a271 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:4844d942-30fa-4c93-bb3a-b850f403a849 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:92824279-50dc-4936-82d7-3d7ec109c470 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:d6d5f7d0-7901-42f6-9bf4-44e3591c3613 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:e76c1d69-6930-43c3-b0af-47e055ac9c70 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:a3caf0f3-555a-4627-9f86-ba69c4ab6d1e phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:41bb1eeb-1056-458d-863e-e468e0059fb6 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:8d6c46de-ccdf-41fd-9512-5dd1f4a020ae phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:0a978300-9f00-4c36-8275-ba5269d4ec85 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:da12de7f-24cd-40f2-8f34-c8c5688336c3 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:a956c98a-3ad3-4bb4-984f-7312e29ae009 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e2c040cc-ca85-454a-80bf-93e3a3966c26 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:13d6a331-1310-4945-81de-bf98074823b6 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b60bf12f-1114-434c-9405-f3d5b45c307b phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:db84fd07-1a56-4792-b4fc-a6abd4e2b924 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:24e57a11-a767-4347-9015-5b4310f5a764 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3957566b-06ab-46bd-8cfa-2793c7db135b phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ec8fc12b-db56-40b1-8aaf-d1c856117294 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3a3c2731-2a74-4f5e-9165-d8615f6206c8 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6212cdc6-22ea-4d6a-b781-1cca6e1b167f phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:eb453f87-8578-4df4-8521-3da73a5d428d phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:67779d53-8c74-4454-90fe-40d0ebceff39 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:68ab6118-ac6f-45bb-b25d-9648a43438b7 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3bbbb709-7dd8-4064-9910-7f5718548b1c phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:87b040b0-388c-48d6-a8e9-dfa8fa7fadd3 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8c1914cd-0afd-4ab1-9c6c-76131854af0b phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c644ab6b-d5f4-44f7-9811-bd6bc051afd9 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:53fdfa5e-d253-41a7-9c60-8db4cf0258e5 phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:1c7dcc3f-7d1a-4890-a6af-56a024c5accd phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:33929774-6231-4f21-a345-fb8626752506 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b9b83bcf-4740-473a-a80c-9b427cd71a3c phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:31c7dd67-f520-46e7-8e0d-bd3a5b8ebe63 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:d004b032-f6d6-4800-99e3-45a256611d18 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:a651c50d-3ee2-4033-ad5a-cdecb5270b96 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:4fd32909-6ab1-45f8-9b06-ac061378a25b phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:ac3d3ce0-b939-4c57-8174-cb6e2c15a505 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:78ebefc7-3253-4f5f-af5c-01d5c729de08 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:8866160c-30ee-4d7c-b200-e21ec2959449 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:bb2ebc5e-152f-426a-9121-da1d24c3ceba phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:47d7ed5b-df61-41cd-82fe-3aac9c07f769 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:a0d7a25b-2742-4d8f-9b0f-993ed2363f22 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:1f5a6fed-fdd5-422a-bdf1-808c7ca21afe phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:3e1ed67c-1b6b-4aeb-a7df-6566cc8a0fbe phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:17667b55-2c10-484e-9c1e-44680e65001b phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:9f606229-556f-44c8-88af-53f18ecf4ba1 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:77a61a73-92e1-4bb4-96a7-37057240c598 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3a17d31a-742e-42a7-8772-9d5198600082 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3bca0a50-aa38-4428-a892-c7db508447cf phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:050bb58e-9a1f-44e7-985e-07326ceb130b phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:cbcd3476-2c68-4347-867f-49dcb5d3e6cd phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c671e883-95f9-436c-b7e2-2c31eeb28da1 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:2b61000c-8fc9-4a3e-aa17-34be6e134e5d phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7556d944-8bed-477b-b372-7c3c942c3c3d phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ad0f9e81-15cd-4143-95c9-91d079c912fc phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7f218ecf-6fa5-46cc-ab9b-8b5e1557603c phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:25f14ee0-d541-4d1e-812a-8d955d8dfaea phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:25a975c1-e2df-4f28-92b2-8e2e5c2e9922 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:84819353-926b-476c-9f1e-b4f2c7cd5a83 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:1ce703b4-fbd0-4d7d-b6a0-ae9f3b5510f9 phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:77ffa549-6c59-4f44-a95d-6d5fd5e85807 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:bc56f8e8-1274-42c3-92e9-cc024a62a03e phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:41b75c86-2fec-40ad-ba1a-207618a9d7ad phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f560c339-8556-409f-8017-cdb4e0343dc7 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:2f4c9b10-343d-4673-9533-67722ff66a4e phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:240f8c71-9ced-4335-8d2b-bf6b59b34f7a phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:09c481ab-4655-4e66-b725-7c95602ad161 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:c97459cb-7139-4f08-a0fc-ad08837db7f4 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:9b2ee592-b83a-4295-af1f-b3af4e818714 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:97a84e18-a433-4047-a47c-ed17ac1b2764 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8244f31d-ed88-4f04-8693-c79fd207e0dd phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:9b929d93-e8fb-4821-a20a-8e78dad602fd phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e21abb21-af2f-4838-bb76-0b02a5869dab phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:205dd888-5ecb-4854-81d8-43c02537f4f5 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:52204fec-9624-4034-823b-2ab61f9ae157 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:939bffa0-86dd-44e2-a89b-ad0b7b013129 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e1f33a04-d7f2-48fe-9741-fbe44379d2be phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c02ea111-2b2e-47b9-9141-4a988a12e213 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b36b4b45-0c7d-4034-8c10-d50891b27db1 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:2a8f46d2-d649-4278-8fc4-c6926cbe7023 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b47eb9d2-cd28-4dd7-a99b-eee98c0ef9d6 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1522f6ce-ab2f-490f-99f0-f638936a819c phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6f705cb7-9b2c-4cec-804f-2f32aa5726dd phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:da000558-bdc3-4e6c-8a16-ac04a28ad227 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c1a0c308-f50b-4ac2-886d-63718835aecd phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:552d97b6-ad14-4ee3-99f2-b680fa5749e2 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:76db14f8-41fa-469b-9f7d-51d49337ca72 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:a774343e-7e14-4718-b7e8-10496ffd7831 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:94d0cc03-13c9-4f1b-aebe-014d8f2b31c4 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:bca8f483-59a2-4dbe-9cfd-2767f2f6d4e3 phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:3c5b4ce8-f710-4deb-9767-6ae042a4c592 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f86a677b-46b9-45ff-aae2-30d410acd887 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:05f0c2f3-c507-4a45-828c-6c9705fcbca0 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:797419aa-abb6-42cb-840f-4370f113ac8a phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:a46c2221-41ea-43ec-ab30-ccfda541fddc phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:33f28050-c6dc-4eba-8bbd-970f5788cc33 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:c71b577e-971c-4075-897e-1bc2aa8b14ee phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:cdf1da96-6296-4f0f-850f-725d8630abe7 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:cf16ac82-06cf-4851-8805-fc9975d8cf5a phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:758c682c-5c41-4597-a189-023599e05528 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:8fca81ac-55a0-4e94-b737-c2860c88807d phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:d2a65cf1-1af9-4a42-b636-79e078fa88ab phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f38892b1-ff3e-463d-ae33-416feae35a8d phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:a33332d2-bb9d-44bb-a1ec-8a272c81037d phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:98be0df3-c02e-42f8-ba69-2950a63fd315 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:af3b5d92-2532-4b7b-9921-bba146847105 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f5bffcf3-028c-4552-8cdc-b9e2fcef3ad8 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:56849aa5-523e-45bf-995a-ea487d4c0289 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4c669641-d5f1-4c75-af4b-878027a9400f phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:bab520d3-7288-47df-8389-656a5fe80c17 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8608c85c-5b76-427b-8024-c17f5259dec6 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:2177ff18-7bbb-459a-935f-8190c134b1ff phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6738408a-8fa0-4602-ad79-5fc7f1df6410 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4595ba9b-7277-484e-9f07-c1673f0799e8 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4b4645b6-aece-47be-a77b-78fead421437 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7b056124-a1f5-4804-8f50-048dfce42f0c phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:5fba8900-cab8-4269-8a73-dc89c441daeb phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:72c4074f-41ce-40a4-8105-43ccc3f9cc42 phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:b87dda20-337b-4d6c-87ba-2c327933b5bf phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:a775337c-d516-44f6-8fb0-090c9e4b02b2 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:19ee291c-b5f5-49dc-ba3e-5f067c18c81a phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:af9bd243-5553-46e2-90a9-b84acbb48d42 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:5a32ce91-ce60-4bbe-aae4-b0863d53dadf phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:208a309a-0997-4954-8caf-a6b22fb3d9f8 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:532e7a0a-70f1-425e-af8c-00262faad3c9 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:98f94217-4de5-46c8-a0fe-04688872bf66 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:65feb538-3b60-4ba7-824f-b138720af523 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:d4bf0a63-722e-4109-b38b-7c95561cc70b phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e4926140-3f57-479b-b42d-cd6c24fd4630 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:608a86b3-0969-40f3-bf62-20795b0420e0 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ff0d5018-f0e6-49cf-8c16-fe8289d9ab54 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:5fe2d5fa-7423-4cd3-831d-8e4654ee118b phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1488ce6a-9ba4-4163-89ac-4c343bf4541e phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:76711998-45b9-4b5b-97b4-fc03ffd804af phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3f14f895-0d5e-480b-8b46-d1cb95844479 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ee5cffc0-713f-45bf-b792-9bd63287c061 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1aa47443-05af-4657-9b75-297e4c710190 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:09b7d284-6fb2-4658-80f9-42183c496b5b phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:d174e024-502c-4046-aeba-c2bc0e163efe phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:de049431-aeac-4640-81c0-ae4f545cc881 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:89800cb3-331c-4057-984e-146e7b96120f phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7b8cff5d-ee80-4fa0-aa7e-81d570a3bf8c phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8331819b-99aa-4036-8e3f-27937168df87 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:809e4eac-b9c5-40a9-b118-e3c76ccadad9 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1253f290-ac4d-4150-9e96-3455fc48f12b phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:bb54e908-7af8-40b1-80b5-333b2a4b4138 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:9087f2f5-ff3f-4e5e-9c79-39d777e20586 phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:3f33b1a5-3f1d-418a-bb05-f306e94b46a3 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:ea165c04-7dd4-432d-875d-0b3bf5089c26 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:cc03c774-8628-494f-adcf-43c558476c0f phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f13136a8-d231-42a8-ae3c-2db99d4d3e79 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b957e659-ef0e-42c9-b7d7-c4024617bddd phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:3736928c-4169-45f9-93ea-2dd2367d6c58 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:c3deb5df-0df7-471c-973b-73d3f6c512af phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:60077a58-494a-41de-942e-48e1fc0332db phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:c30c8835-d477-41cf-b20c-8db51b3c126f phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:638abece-b517-4efe-aa35-4501c212f420 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c832fc20-801b-4846-84ef-52e5cd93f020 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:2471bacd-f07e-4d8e-9670-6ed45f17762d phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ed00ae3c-5a0a-46be-ba18-34ad4ed42535 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c100a681-8f77-42ce-8859-f482f65a2715 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:a407b3f3-5899-4713-a6cf-e4e3ae99edd3 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:f583d430-e031-4a00-a889-2aaf3150ffdb phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:94b4820a-c138-40e1-bd43-514159316835 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:0b8ae00d-63db-4777-bd44-dcbc41b4943d phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:903146eb-b830-4e17-b300-c00a2348b1cb phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:20b1f1e6-7ba8-45e4-8a94-dbf88027bfeb phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c5e7d3d7-d2d8-4223-8d85-78d2fe94b2e3 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3f0b2683-bb6d-4c8c-a6a8-9c32f0797d69 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e66f99f0-c4e2-4745-a9ad-32a8df4d342b phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ba415159-60cf-4fa1-b7f9-fa6e5e0973ba phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1649cf59-68de-43b0-9599-bb2afb767079 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:0c41b9ed-4dd0-4ce8-b512-890737aa1517 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ca515ada-29aa-4c5e-822d-73f6b06fec7d phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8668afda-1067-46ab-a1bf-e6f5a165bd1a phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:48835ddf-9ef2-4868-ae6f-0096b32d6129 phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:1ee26c07-4779-4180-a2e4-f49e1b56cd84 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:8ac12369-cfd6-42da-a014-70979999ecfe phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:7eb74f4f-c627-45d2-8071-9cc987afebdc phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8ea28409-75a6-48a5-9a35-3b6f45b18a94 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:2a5fc538-f9b5-4417-b69d-9f8d6abd0740 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:55d874ac-a1c5-44f0-b022-45d1877da99d phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:62701f55-b0d3-4f4c-b3ad-9d16fbb8a0a4 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6fc5a8e4-f78b-4907-b134-88ce651641f0 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7ff67cc7-e613-445a-8456-13eaa6f06cce phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:a092eecd-40e2-411e-a87a-2412b2230b1b phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ceb40fa2-4f5c-41e2-a850-bb418ac93e61 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:941be696-f3b6-4d19-8bcb-4f53b7916a47 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:35f14c7b-2e50-47d6-9d37-3aee6507ed22 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ec972b65-4350-4258-ab36-0ec4e91632dc phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c9611ab5-1395-4a2f-b048-431b4546f5a5 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:23119cdd-c6d7-4894-a841-b9fb3edecaf5 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:a42c44f6-4a47-48da-8ea2-9820724f9064 phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:375b3b4f-831a-4ded-8a88-0b98d7036846 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:1abec669-033b-4264-93db-61d589dcecac phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:741808ad-7dca-4ea1-9330-7d2743ee1a8c phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:494b9a5c-d775-4416-ad48-f124677cb460 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:fd459ecf-93e6-4e99-80dd-3aea2a3b0d49 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:1de7015e-ccbb-49f8-a36c-a8a9e6d1e78a phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:64489e3a-db14-4ad9-999d-053bc25872cc phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:644d1f50-816a-44f5-a417-9f275f2e7de3 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:1c3c2a5c-019d-4b96-957d-d5a2d7314af2 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:bb6aa0a0-8e67-46a1-8680-603258902f4d phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:72242101-640a-4d52-80b9-ca390b1dddf0 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b8ea2107-0d0b-435a-a239-31dcf704c54d phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:2e816bf3-1fca-4f4a-be38-2f8c98f5fdd5 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:df0b422c-c3e0-4b9b-9b02-84b5404b44ca phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4338ff30-cd7e-45da-92a8-1394258a1e25 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:98acdf47-eea0-4250-8a8a-ef5ad43fd718 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:52583a6e-2a7d-4c81-904d-c5fb637f9681 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:5d2a6cdf-9a67-405b-802d-574c1b5ef3f2 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:f3485aab-8cc6-48eb-a972-de9d9fed75d2 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c34ce283-211f-49cd-a3a3-4d9bd9e62220 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6117a97d-bb5a-42a2-8916-14cdc2dd5369 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:5095f7e4-6a6c-4134-83ea-ce6bd818554a phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6a665324-ffa0-4c3e-9d14-2dc597f51cda phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:f6c604f3-e851-466c-b195-5b1ac0839533 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:0ca6da0b-6b1c-46b1-9e54-003dcfb2583a phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:554c8151-2753-453d-a88e-789567d96471 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:70fac6ad-0685-4cdf-af8a-dac0207d26f1 phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:64e3b55f-314b-4829-8714-3b0c4477e75e phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:917aaa63-0e16-4714-a128-e0453177c18a phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:7e1f0c58-4ad0-40ff-99c6-fc41dd322aca phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:edb07350-20b2-49c5-8e5c-e19e822a86cd phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:408936d7-dc1e-4df7-8610-ed8ac6c70eba phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:c26ffe3c-bf06-4fe6-b994-95293d647fa1 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:7ff3dbaf-05e9-4b8a-a9a0-55b928d40783 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:02d2b56e-b068-4e4d-be5f-fb5efe0a4fa9 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b5d300f8-a0e8-4452-bda8-a982ee227565 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:5a24a02f-31c6-435a-b34c-9fa5e1038db0 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:08781799-7d61-435f-b774-afd73d4ae2e2 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:92ecc823-8f7d-4305-8a1b-f94f5051584e phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:3ed65895-020e-4775-8092-fc322908fa0b phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:05f6bc71-5999-4a35-a68b-d5c54688971c phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:ae96ddc5-41db-4234-9159-483112ce7faf phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:309fbdbf-ac1f-47ec-bdd6-5cdd6480f389 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:574a96e0-fb49-45ad-b4ca-b36fc8eeeb71 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e385c58e-11ac-4b5b-a92c-fc846767666a phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:fb7c6736-cbe9-4666-a656-dee2f538566e phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b72a7788-e17c-4f2e-b834-946b5233c08b phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:02e31498-b3a6-407f-b008-7025faad4f65 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c01b97cc-b32a-455c-9165-45e03d21ea91 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b41139cb-b88c-4e2f-964e-c810d8c5219c phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c95be6a5-0bd0-4377-a281-dc534b4c0572 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:654143b1-33a3-493f-bd34-9d3d5170362b phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:f35ea1ea-e279-4fdb-b5d8-96ad79897e29 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8a0f7be4-2cb5-4cb2-803e-8dc5ea7522a8 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:72f41569-d9fe-44fc-9515-ad4c33088160 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:5f3d8145-e785-441e-8c19-b41bf41f67f8 phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:98df2603-3490-4a89-ad74-4e12f3c6b35d phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:9d918503-b6c6-48ed-87c2-998e3203e5bb phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:e81de1cb-d361-4bae-bb44-fdb82a0cae1d phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:92280331-6207-42d7-8a2c-4ceb9f4fa13f phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:63c3b081-5670-4d00-a192-a678c879ffc4 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:d6e032d1-af3a-4df4-aac7-1559c2481aa5 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:bf837cd8-7065-4510-99b7-3bcb03534487 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b0803df5-3a7d-45fe-9e69-d9ba13d9c797 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f458351f-b030-4306-bd19-a261e4aaff76 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:82d3bddd-06d8-4402-9683-0ab7e05423d1 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:0b23e20c-3ceb-4bde-923c-39adda08d4dc phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:e527e380-2514-40b5-b456-7c829881d932 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:235b6858-d3da-4242-9542-2995ba13e362 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4b03d87c-b435-4868-9a37-cda9df2af534 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:62e0d8c0-bfb0-44d5-a090-37967730a9d1 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:db6146cc-d62b-46b6-9894-a3b0c9f6023c phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:59234da6-bc6f-46a8-8e73-582ee6b5672e phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3e8574e9-6685-4075-9c82-184c298e579f phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:da2d5248-6e3f-4681-82e5-09b0fdb66527 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4dda54aa-3d47-4940-95b7-ccbbb38a1c79 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1bb196d7-df07-43f7-9c23-453c4a8c182c phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:591bdcf0-1574-488f-97c4-bf7a4bf94ec7 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:a64cf9f0-50e1-46bb-9dce-2bf89a45e808 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:d027085c-48c9-4b63-ba25-a1a9dd24675f phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7b3f0d8c-7557-4f90-91cf-0422f9e4e93f phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:b46c72bd-92a4-49f9-9790-5ee5a4c57a9a phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:52d3924e-f6ab-45df-aef1-9576e5ba39b0 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:30b846c7-03cb-4546-9749-c57117d5da4b phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8ba85769-497a-405c-b203-8035c4ae4b25 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:1f09a328-724f-4694-ac18-6719cfbf88f8 phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:f4912414-a555-4166-a022-6b63c7082aee phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:d1e29317-997e-4a09-b132-77041bcf2832 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:8c6a0fbf-e229-47e4-b1f2-0f98f45f2400 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:f8ece00c-24c9-4732-88ba-3bd2d5ae8d48 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b0c2c810-a7c0-46fb-96b9-fc04c6e30d4b phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:fa298845-0df3-4988-ae5d-42523a57abcc phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:dc48611d-ad70-421a-9f69-79455a94b088 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:1e51937f-ef2f-48d1-ade8-190642e7c587 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:7b7e47d2-c993-403d-98fa-53ca8ac96081 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:1fb3b684-512e-43f4-9261-85a1517614e2 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:0ad12864-0f9d-4f02-831b-2099349f22dc phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:92b7964d-7869-49e1-b185-527184c78319 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:62225888-f8a0-4790-a719-a8abc76235f2 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:e1fa4b7c-e9bb-49c5-b937-162aed286762 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:e80fc56d-35c1-48b4-b918-e6294192ec1d phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:c5940498-868c-4749-898e-a53054c88d9e phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:d4290bbe-2035-4b6d-a648-76d3e9314874 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ba7cf136-8fd9-42ad-9f58-f25b61ef0bbe phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7a286af8-0b8d-40e7-8a63-3d38bef860e6 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ac4e309e-9f39-47e1-8d3a-2d4aeec1d40d phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:50028087-8bde-4c5f-b5f5-24f449374455 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3b703937-f15b-41e0-92ae-6de00bc36de8 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:96cdffd3-9bf4-4033-ba5f-11d91fb3d970 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7e1c2444-0311-4d31-888e-15359b9201bd phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:eee79bbc-2da1-4780-95a8-b04085eb991b phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:1c19138b-d3cc-44aa-8475-385b5fdb305e phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:07c996f8-8611-4db8-abe5-e1a361ececf2 phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:508dd46e-309d-4688-9ff7-f6a17147fe3e phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:16c9a96d-34b0-4cb7-8307-31953c61895d phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:297bbf89-77f0-49c1-b614-5074382d880c phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:4459e37e-9da5-4216-803c-caefb04efd2c phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:59b0720d-5894-4d9a-9a2f-7e574085bce5 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:03f6f1f9-79b1-441e-a615-d4d0778c4796 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:c8017a81-3614-423d-8b94-0c7d162e7aca phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:9f7147f2-3bf0-4af1-921b-ba777ad26d7b phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:e09f852d-30c0-4951-9611-3196a5c19811 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:34b90e91-6176-47fb-9b0e-aa89179b9986 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:babd0882-5bc6-4c80-9864-de3b8af8aa87 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:b92bfb52-e8a8-43f2-a368-4792531538f2 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:2e0a7bf0-9585-46b5-a9e9-6378ce41530f phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37541189 uuid:571a3645-127b-4963-88e1-14e9f5ebacf8 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:4335b28b-9715-4e3b-af02-e9d87f3001df phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:74745bb4-427b-4c68-a9d3-3483a908474a phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ce168a06-d36b-4dd7-8271-4dad7ceeec59 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:90307506-49b0-44e8-a95e-869716b0dcb4 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:ed94c5fc-63b4-41ae-860e-c4b4cb7610d5 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:6e265dd0-3efe-49fd-bb47-621ba3218458 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:8e6b1b01-5f4a-467e-9be3-474651b51dd3 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:31785faa-6e15-4da3-a55f-fc047afab80d phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:f606bce3-4b61-4ea5-b9c7-55d89a0afe7b phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:51b8b889-72ca-4e2d-893d-45f194c06e37 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:30521195-39b4-4f5c-9e5d-6a127f32cdb6 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:7d7a5ce9-1abc-4cd3-93b9-dcc91d0bedfa phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:d28ab0b3-4bf0-4e46-9830-f32ae2c0ec45 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37541189 uuid:3106696a-aef1-4004-949d-1538a2912348 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_disease OMIM:620688 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:a76dda3a-ee04-4eca-8959-397dd6b1b4d5 phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:has_gene HGNC:5035 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37541189 uuid:4cb45936-7451-40cd-9d19-9293db7c9691 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:49c21f22-78d0-454e-bb73-8fe3c38909f4 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:49943a98-84bf-46ff-bfcf-ec1bf639eb35 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:9a3c353c-8ce2-48c7-9ed3-bc84b33e6214 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:6c522ee9-7177-44cc-a60d-86d13329dea6 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:2ca8c798-9717-4edd-b4d2-e21659070bcc phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:35484142 uuid:e0041070-026d-4450-91c8-a87b41927626 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:c0fb1472-13cc-4a27-8f46-d3efb9e8ac44 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:d26468e9-3de0-4c5c-a39a-e738b8e0fad9 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:5d9b2247-f093-4510-b39b-38ff8bad2bc3 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:99f02592-c39e-4c90-86f6-750ff7701aa9 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:9e848c49-f22b-4b58-a07d-ee396d19f1b5 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:1f64b731-0d84-49f4-852c-2e8f8c417ee0 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:53e81d84-9ee9-42ea-aa3d-acb507650247 phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:2823f463-3d29-4f9d-b9fa-57bc79f82b86 phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:0f038cbd-ecfd-43e4-86f0-f5b86a5d6e5d phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:44612388-e07b-4f15-b486-aa96e730c732 phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:51c6cad1-57c4-41ba-983b-fe8a101e230c phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:c459f37d-613a-468a-ae82-cd4e387a7fd3 phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:baf951cb-5ac1-42d5-b653-9d5dd3b828f1 phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:88ad811d-e3fb-48fa-855e-1a4c3e3ba549 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:56b2d625-7589-4b9c-9e57-0fac04f8f849 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:8eb2e0fc-9b7f-49bb-9a8b-eff230f90839 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:41a3e96f-cbf0-47ad-828a-c0bfdad26d73 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:7164ebb3-f454-4ad1-bc1f-389d20305ff8 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:f93a9abe-53df-471f-a6ae-4bf6b1ec9a0a phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:46c7efee-0b0f-4972-9541-b992fdfe44c7 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:ee77f307-d676-46c9-8ace-ae629814c978 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:4f81ceb6-b07e-4045-bdc5-7375c8708910 phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:26cef4b0-7029-40c7-8033-b39406a5bb52 phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:a3f9b1aa-4097-446c-8211-db4620e22269 phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:6cdc8791-6592-45ea-9259-1f5b50a279fd phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:9e36a7dd-4911-48d5-81c4-2a37ff7a222e phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:0989f695-0c3d-455c-80b6-374151ce8947 phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:ec0e6e2a-10ab-4df8-8184-868f713f70f3 phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:693037e9-0f6e-4569-b6be-6008e6a6b21b phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:52ee4e0a-f79e-49bd-8453-3feb492faa43 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:8b139dbd-34bc-4107-8e6f-ae9a2bf2cd1b phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:673be2b3-c0ff-4ae9-a450-3661bbeeed15 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:a5d13c91-48b1-435e-8710-c85b73174f36 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:250c9276-3ad3-46d8-bad6-eb2932199123 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:eae5e393-4fe1-437a-9e12-5ab400f06545 phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:35484142 uuid:79a48680-4d31-41b5-8c2b-baaeade19add phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:de998c87-9015-4c61-832a-c7fb74e89a28 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:49fb17d3-e251-4cd6-9023-fa71a07f495e phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:4b07a084-a69b-4f38-9e1a-f2c4bb3a6a56 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:a358d388-b022-44c3-95e1-d928c72d3a64 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:2d5aacdf-ecdb-4793-8161-0d7ffb5ab3f5 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:086e640f-2e8d-46b1-93f5-38cf00b1c57e phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:2fc3870e-dc3d-46bd-81d2-3362b7f39f04 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:bf1381e4-792d-423a-b703-bf8c3233ba30 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:ed3a40a6-0807-46b8-a71c-b883a7566867 phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:35484142 uuid:0cb0b17c-2aa1-4722-88b6-5b4e79c6b11f phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:d49005a3-d446-4fb7-8c6c-1c13d0f2d1b8 phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:6389717b-b021-4283-b1cd-c6db11c90420 phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:e018aad8-9fc2-4654-be1a-4f63896ac69f phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:62803521-8774-476a-a27d-fe2a9962af7c phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:85381ec5-c5b7-4b52-900d-412fda8eeed2 phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:4f790164-3b6d-4a1e-94a7-3abd551eab8f phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:1348e1ba-38e9-46d5-a840-335c83293043 phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:35484142 uuid:fa528362-3e00-4792-9263-0e63edd4a638 phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:b27c90b2-15ee-4a5d-a20f-24492503ec20 phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:8a1e6b40-93d3-48ee-ade2-db269a07a836 phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:c47681bc-37d0-4a9e-ab6e-f3e0c2c67e11 phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:298e79a2-f2b1-43be-84ad-6b6e8aa46ed0 phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:88574548-d8a0-42b2-98e2-55792c3afd61 phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:7e9cec77-6494-488c-a15e-cd8ca250b8ee phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:35484142 uuid:365d29ce-bd56-4025-8a99-f7b71900de2b phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:64aac6c1-9d08-4292-b8d1-e309d72b7196 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:f295b694-ee41-4ea4-8789-124dd8c2f775 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:0980828e-5cff-4b13-a183-9bc19d104021 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:2993132d-6627-4e80-a864-9cd9063e4843 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:4087ca88-3fc3-4c68-8d2a-ffa2ad0e3336 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:7b9ed1a5-7add-442e-b752-8fae12e4cd36 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:bb22f90b-3d17-45ab-905f-03cd584e4102 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35484142 uuid:a98fcbc2-360e-42ed-ad4e-5b23832d4df0 phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:6f46f430-1dd4-467c-9204-1b31030e8029 phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:f98d3bce-f776-4a56-8fa7-cf1897856b4d phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:59d47f41-ae23-4d37-b217-55492acece1c phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:e141f07e-6bef-4ba9-bcb2-bfd20461c291 phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:ced351e1-8741-4d2b-9466-c339504fb2c0 phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0001618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:4c68cf11-1125-4b06-a498-1636e5700fc9 phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:eaead728-4d31-4dd2-9aaa-9dae23d2fe6b phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35484142 uuid:d54a26e4-7cf1-4708-bea9-ef7083b3467a phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_disease OMIM:620460 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:35484142 uuid:63653536-e261-45d6-8626-9d2df327335c phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:has_gene HGNC:5033 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35484142 uuid:1eac8ae0-47e2-4c1f-8c6b-5b1cbe4f4d98 phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_phenotype HP:0500262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:f810910a-527b-43fd-8fc7-5dd3e815ba2e phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:979b4322-adbf-46b3-ae44-fdaaaee3decb phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_phenotype HP:0040039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:d90d6c04-9fab-4f42-84ca-307c4e1cfca2 phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:fd25865c-f45f-4624-80ce-6f68f5be6287 phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:7d89095f-bf18-4fbc-ba96-db283b352888 phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:7b7f4287-0821-440b-89be-b600bd4fd1f8 phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_disease OMIM:614931 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28403827 uuid:80617447-4e45-4029-8b6c-63edf7cb6194 phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:has_gene HGNC:5125 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28403827 uuid:11ee91d2-cdf4-403c-91f7-9d81e4e484ea phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_phenotype HP:0500262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:81a85491-6f54-4fa7-aea4-d0b19b0cbd3a phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:df4e965d-0cd6-42fd-b367-0fba6078d349 phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_phenotype HP:0040039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:8b1133fe-b2a1-4e8e-9fb6-7086e756d602 phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:e5fea9e5-6fdb-44be-a2d4-fea51b2476c9 phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:38c1781e-7c43-4797-97ec-c61e56b1d127 phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:1c71bfd9-9924-4342-adad-7a32c30a2e0c phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_disease OMIM:614931 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28403827 uuid:9872df39-ee43-49cd-b719-4bfeae37ec73 phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:has_gene HGNC:5125 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28403827 uuid:c06f0e54-11c0-45b1-bd1b-bc17e1929ad1 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0500262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:6ab6f999-67d9-4e9c-b83b-e9a656983a3e phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:1c5e0fbd-b9b5-4ded-b6c9-60cbbdd17aa2 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:5db2e1fe-d102-4478-a460-46a5839b7301 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:f81c2223-b0e7-4a99-b5a2-3e0619a8153f phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:e2ee6099-9683-4b33-9640-cf7238dbb467 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0040039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:735299d3-6c27-446d-947f-384732210b88 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:3985c830-7363-435c-a02a-ee8538d220d4 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_disease OMIM:614931 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23063621 uuid:ea6bf0dc-23a2-4e6e-b723-01ee0d3d1fe3 phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:has_gene HGNC:5125 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23063621 uuid:bb92d8ad-bf3c-454b-ae03-bb7d9b0a96da phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_phenotype HP:0500262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:dcdd180b-b79b-4a0f-b907-ca253e7a5238 phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:aa601039-7dbf-4cab-b64c-fa11b662bd24 phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:2413cfe4-44e8-4cbc-a5d3-d1a7281d202b phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_phenotype HP:0040039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:ddb8d4d4-992f-4483-bf5e-2bcf1c95ea88 phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:dcc8efaa-63bc-4cc1-8f37-265723fcabba phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:9b7093ec-00ee-4f9b-969a-08b6a20ec041 phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_disease OMIM:614931 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23063621 uuid:bca26f54-dfae-470b-bd0f-0c200d92f70f phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:has_gene HGNC:5125 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23063621 uuid:e7ac0d8d-7bc7-4e28-a6f5-6d9565dbb213 phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0500262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:f7d7d858-0ef8-4030-bc6e-9a13e8ca3fee phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:a1dc573a-7d61-4704-9c8f-c3238d49e1ad phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0002223 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:d8cf3067-d8ab-4ba8-b747-0c8ab2bd3c8e phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28403827 uuid:a1bc213f-81ff-43e5-826d-6756611b1bc9 phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0040039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:e0b03948-ebed-424b-a83c-bb7e64b19f27 phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:3cc1eade-799f-4c93-9946-7916114dffbf phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:4d185d47-8612-45fb-9a78-1bd6107a6320 phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28403827 uuid:a47dff92-779c-40c6-a26b-40f7f1e0b7b7 phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_disease OMIM:614931 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28403827 uuid:58477f81-7682-401c-8c71-a01958ad223b phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:has_gene HGNC:5125 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28403827 uuid:6ed82704-9931-4917-998c-61437d2309d8 phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0500262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:8e1b3e55-323f-47ac-b8f0-d9490d9bf78a phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:64048d19-d571-46a4-a574-cfe3438cd263 phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:2ebd86ce-6b44-4c04-9604-9760686d4326 phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:a32930cd-2a83-43b7-b6b7-f6c407488206 phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23063621 uuid:5000e8ed-c6d7-4da3-ab68-83913fcdceba phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0040039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:a723b5cd-1bf5-45e6-a1da-4cab5f21851f phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23063621 uuid:d52f3f8b-76dc-4f58-ae98-5c0d8bbdd864 phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_disease OMIM:614931 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23063621 uuid:0711d584-055f-4441-bfa0-eff5bf87a348 phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:has_gene HGNC:5125 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23063621 uuid:f1c19662-5052-4a90-b9c0-3384486ced51 phenopacket.store:HROB.PMID_38105698_proband biolink:has_phenotype HP:0012569 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:aacc9a2d-7349-43dc-944d-70b3593f48e3 phenopacket.store:HROB.PMID_38105698_proband biolink:has_phenotype HP:0011969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:2baba302-c276-4120-b270-82aa71edaeac phenopacket.store:HROB.PMID_38105698_proband biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:700fce37-24dc-4fa5-a2db-0b428a7704be phenopacket.store:HROB.PMID_38105698_proband biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:836a70f1-e3c4-484b-bf82-7c97cff3905f phenopacket.store:HROB.PMID_38105698_proband biolink:has_phenotype HP:0010463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:0ba26895-346b-4840-badf-440a048b0571 phenopacket.store:HROB.PMID_38105698_proband biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38105698 uuid:cb53b904-78e7-4f33-9811-f33aabc68efe phenopacket.store:HROB.PMID_38105698_proband biolink:has_disease OMIM:620897 biolink:CaseToDiseaseAssociation manual_agent observation P13Y6M infores:phenopacket-store PMID:38105698 uuid:560331aa-44ae-4de7-985a-0db340702650 phenopacket.store:HROB.PMID_38105698_proband biolink:has_gene HGNC:28460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38105698 uuid:b59fe9e8-538f-49cc-b723-94c84ae0373b phenopacket.store:HROB.PMID_34707299_nan biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34707299 uuid:bd9b585d-212b-4121-ab6e-b46e0ab94371 phenopacket.store:HROB.PMID_34707299_nan biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34707299 uuid:53679661-257d-4376-b3a9-269d299d0943 phenopacket.store:HROB.PMID_34707299_nan biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34707299 uuid:aaa0eddd-cd0d-4105-a5c6-9c4a466594d8 phenopacket.store:HROB.PMID_34707299_nan biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34707299 uuid:dd11d3cc-5b38-4a93-9cfd-d62a605308a9 phenopacket.store:HROB.PMID_34707299_nan biolink:has_phenotype HP:0012569 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34707299 uuid:5edb81eb-d899-495a-867c-4df84b463d15 phenopacket.store:HROB.PMID_34707299_nan biolink:has_disease OMIM:620897 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34707299 uuid:6795e5fc-1c4c-4c16-b314-ab5a759c1fcb phenopacket.store:HROB.PMID_34707299_nan biolink:has_gene HGNC:28460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34707299 uuid:f72d9273-0f28-4f99-b084-7702dee87399 phenopacket.store:HROB.PMID_38105698_nan biolink:has_phenotype HP:0012569 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:b73f79fb-54b2-4423-80a4-53cd5e7ef35a phenopacket.store:HROB.PMID_38105698_nan biolink:has_phenotype HP:0011969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:8f339eb3-1c66-4809-b5d4-67458e1d3608 phenopacket.store:HROB.PMID_38105698_nan biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:e3ea7b44-1a38-4525-9e01-e7b4fe874e1d phenopacket.store:HROB.PMID_38105698_nan biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:282eb0be-64df-41fb-9ca7-0eae842e2a60 phenopacket.store:HROB.PMID_38105698_nan biolink:has_phenotype HP:0010463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38105698 uuid:885bf1f9-fea5-453c-a847-f7035e17de5e phenopacket.store:HROB.PMID_38105698_nan biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38105698 uuid:ed19ffe1-e6db-4964-a6de-9d42728cc8fe phenopacket.store:HROB.PMID_38105698_nan biolink:has_disease OMIM:620897 biolink:CaseToDiseaseAssociation manual_agent observation P11Y6M infores:phenopacket-store PMID:38105698 uuid:f69833bb-91d7-4df5-bb50-309980bef00b phenopacket.store:HROB.PMID_38105698_nan biolink:has_gene HGNC:28460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38105698 uuid:374e66b2-9fcb-4bcb-8a9d-d34f9463dfc7 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30498080 uuid:673ed19f-a932-4a9c-b99a-51efed1efb03 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30498080 uuid:40bd4f12-0247-4768-8ae0-b58b4c8173ee phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30498080 uuid:4865ac68-827d-4665-a1f2-6f1786a31ebc phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:30498080 uuid:aa32412d-dfda-40dd-af4b-a7b618c83e0c phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:30498080 uuid:4b93e6d8-1349-4f93-950d-509829b2e66a phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0030318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:30498080 uuid:b24fd00d-1b9c-4a7f-8579-4d5c11797a97 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:30498080 uuid:8c96f2a8-819f-445e-a3b0-e91481e975af phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0032301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:30498080 uuid:5aebb01a-3b4e-4ecb-9c7a-4d7087fc09e2 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:30498080 uuid:47060690-5b8e-47bb-b0c2-188345b3290a phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30498080 uuid:7e9e7300-3dc9-4df6-98cf-47bf8ac28895 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:30498080 uuid:b0567821-40d4-4be2-8690-3c4bb5f9073c phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0005387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30498080 uuid:d9282d36-fb89-4149-8636-24ca92e6cef2 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0003453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30498080 uuid:bc5799bd-1c4a-4f6f-8dc8-9ad408019b9b phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0031160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30498080 uuid:84a9b4a7-264e-4e98-9cc3-f55e72fe5764 phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30498080 uuid:60ee1d4c-bae0-4bb1-a480-30b06774837b phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_disease OMIM:620825 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30498080 uuid:793be8a1-b319-4e2c-9329-a458fe71ea3a phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:has_gene HGNC:17087 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30498080 uuid:bf42b4bf-c456-4dde-8979-fa843cff7f3f phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:26981933 uuid:d2eeb46d-ce24-4072-a0a6-e6721e2b56ac phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:ba0eeaa3-6437-4a8d-8d49-490dafa7d756 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e96ef7d2-bd16-44a0-bf88-65aea906bcd5 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:9da07226-77d8-4fd5-b371-6cf2bd417853 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:d92f7054-997e-433a-ae0f-01190642161f phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:76388a26-9de6-42dd-973e-d02f4ad8cb63 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8c51057a-bbd7-437f-9376-1428da14ff21 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d2828762-46e6-4c5d-a472-c5edb00295cc phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a3da3809-75a2-4798-9fd2-8a4267020d28 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:42ce8cd8-264c-4571-b6e0-cfdefb754011 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0635f4f3-6645-4dd4-ab7b-886375556d76 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e56cc0e5-cbe0-4b8c-855c-0e9f3ad8c8af phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:be8a14d8-fcc8-44a3-b15c-131d88441941 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:66df2e26-d0f8-47c9-b3f8-fe6970fb9558 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cb6d35d2-d791-4fd7-b9ef-6cae987208d2 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:bf136008-3c7a-4bd6-9ddd-95fc170ef149 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:24382fd5-5b01-42df-aada-9222c85a8034 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:370e57ea-1cc9-4170-9513-298d25b6417b phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0197a3db-3a91-4bbf-976f-c10a2ce86c56 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2ea45077-a7b8-462e-a74c-c089820b095b phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:26981933 uuid:a15ddeb2-59cb-4acd-b09b-e95becff5a82 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:af36398d-2f99-4a1e-8a67-ad6516532111 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:9238d8bb-6236-44ad-8a9a-2c604f1335c3 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:7f44d9fc-9147-4891-953e-c9a8c11c05f2 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:0dd1a63e-aea6-480b-b19e-c6b66e2a988e phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:e292db11-0316-4103-8f3c-095e4b411095 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:1ca79d18-2165-4a8a-bd79-cc3f2503c717 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:6000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:e1ee7e00-fa9c-4164-a5ee-b2b4aad27699 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:5d84ae20-4e63-4cbd-a573-dcbcc00d9c2d phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:33122583 uuid:d41a78c7-bd5d-45a0-b94e-7a034066c219 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33122583 uuid:a2f353fc-7d77-46c3-8c37-ff9b0d9b6812 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33122583 uuid:ff01280c-98e7-44fd-b89b-9421f4e4ad9e phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33122583 uuid:479609bb-ecb9-4241-8c28-aa185e805873 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33122583 uuid:ab94bf4b-c6d8-42e2-9000-0a4bc5c3c102 phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P2M14D infores:phenopacket-store PMID:33122583 uuid:02b51a0b-3f7b-4dbd-9416-8296d97868ae phenopacket.store:IKZF1.PMID_33122583_patient biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33122583 uuid:15300f43-506e-4e33-92fa-88a0cf1eaf89 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:6b5bbced-2645-495d-8b5b-6b05d916a112 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:bd9212e1-c181-48cc-89c2-3aae7a193836 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:a85b4450-0db6-4557-b763-ee539edc19f6 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:539fc660-82ea-461c-b71e-487584e39921 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:024f1b77-063b-4da7-ad0a-168475562e1d phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:fa629142-d842-4aa3-bd3f-c20c2dbade26 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:f094e0d7-a0e7-482b-ad33-08c52e5b0f22 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:e86eb5fb-29ec-4fde-8b10-ad3ab6a71f52 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:0990e3ec-6bd6-4468-a25e-047bdf3f2175 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:63648497-d472-4367-8917-c5eabe24a4eb phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:30965037 uuid:fccaaaa3-1835-46e3-8240-886810fb3df9 phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30965037 uuid:052544a9-205b-46e4-b02d-9ac1c90024c0 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:c1375cc0-46ad-47c4-9560-0b2b3aaa8722 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:e38cc753-5096-455f-9d7b-b8d6aea78710 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:410404ab-b1c3-42a1-b632-5f1ceed022a9 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:42ffa9c3-5871-475e-9050-a8b0163f6ae7 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:0fe567ea-04f3-45bb-9869-58ff729cb357 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:9fee4bbb-6e8d-4abc-85df-e2271e8d2af9 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:332036e0-96f9-4eec-af34-fc7d30dd5d44 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:cfa7e073-c63a-4ceb-8cf7-d8179b728946 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:5c993aa1-afcd-4636-b76c-ad933a257fb6 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:fcfe6ad8-67f0-4d3a-ae72-e3899c0614ce phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e748185d-942e-4a1d-b461-c5bc1117157c phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:ae637509-f018-42f8-a378-71a30b5468bc phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1a91de98-d3d1-4389-a7c8-50992228cb99 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:dde33d08-d9fd-4a7c-ad74-e3575ab6c4e5 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9af09902-c8e0-49d6-8617-6c971f0b7075 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:012063e5-73d0-47b6-8196-65494dbf0d0d phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:c9bdae34-fd70-4c25-8d73-169da5ac3980 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:fab7c0eb-ca8b-4340-96cd-1d1dadba364e phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:23a9f3e0-6f20-433c-8b6e-cf99a51f8c7c phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:5b1badf2-d4b1-4075-9d94-f5eec826d8a8 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:31057532 uuid:79cd127b-3941-4f7d-a1ff-12c9983384b6 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:adff812b-1089-4daa-8cd6-8a9958ab35f3 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:28927821 uuid:3a3e23c5-7e60-481f-87ef-c8522f7d352b phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:28927821 uuid:acb427e5-3373-4543-bb72-007cfd664cca phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:28927821 uuid:e8717832-96a0-4d75-932f-1c3bcf1b47f7 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:28927821 uuid:66a75af5-0328-4631-a292-79acc1f84aee phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28927821 uuid:7f44fc84-80f1-42cd-97d1-da76554c7c48 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28927821 uuid:2ea6a16c-1605-4f78-abe6-d57a9e566154 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:6001064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28927821 uuid:4941f906-54f7-4e2a-a32c-b23a1892fbd9 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:9de3766e-bc3d-44ba-b115-8758e101fcc0 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:cda58ea6-84af-4024-8329-68014c722e0f phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:9e58ccc6-4265-417e-80af-c6a54cf6af13 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:71864889-8149-4f0f-af24-d519e74056d2 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:a2a13687-2fbf-452c-a3a8-8633c6c98b33 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:021665a7-6b59-48ac-b4d6-5f10cb7706e3 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:6b37f70d-6842-47e1-bc46-835aa9aa83f4 phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:28927821 uuid:3e9f5d23-8093-4750-bd96-4571fa842c6e phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28927821 uuid:7a6fb065-9f53-4902-b191-10d3be69768b phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:18b1cbf9-a25d-41fa-aa63-53445897666d phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:9cd98049-abdc-4abc-8bc0-1f89699d75cf phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:5554e896-8bea-432c-b772-2e8819f69f92 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:57a01e3b-2d50-4d7d-a020-8f91f6673d45 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:bddff27d-d3b2-4d69-a944-300a845aa6c2 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:59623acf-9e63-4b92-8c6c-e37495f5dedb phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:06c8ba5b-5870-4e49-9a2f-de7d5b3d8c7f phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29461212 uuid:85473795-c2a5-4e9b-9687-725b377bbde6 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:5c15c6da-4682-4bfd-aa2c-e122f5790db5 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:0de60eb8-8241-4ce5-8f5c-9c8ba318eff1 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:6d870dfb-9110-4493-b5fa-dfdffb528da8 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:3bff4fee-a9d5-4845-b48d-21338f7a7753 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:943fc667-d35e-4bb8-a670-0bb12ec46e19 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:354be6d6-9f7c-4d8d-9e72-2bb0cbff5005 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:dbc6f70f-b125-46c9-9fe4-d866a25bd2e7 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:77965615-b809-4e7a-ac2b-1b7f3e5e2b61 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:79d2b046-36c3-4b84-b82c-3e010ec0bc46 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:6cb9ad11-81c8-47e1-aecd-efd37d4d0283 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:f05b864c-b229-48ec-a8c2-fd75538aa254 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:6c986e56-283d-4907-bbc5-73d575363b54 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:c1620123-ea11-487c-a3c2-63787ee1bf64 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:451cba4f-51dc-442a-bd00-00fdedfab1a3 phenopacket.store:IKZF1.PMID_29461212_case biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29461212 uuid:2218d585-0833-448c-bf04-3122236cdc8c phenopacket.store:IKZF1.PMID_29461212_case biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:29461212 uuid:7e412ee0-ce43-4d1b-9a48-bf0edc7ea8ff phenopacket.store:IKZF1.PMID_29461212_case biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29461212 uuid:28458aaf-1da6-4947-b7b0-db46a9c14018 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:27939403 uuid:ae173b16-abb5-4393-b7a2-7521eb7f0a63 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:27939403 uuid:84b83db1-4e23-41c4-92e8-fbfc1e91a56a phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:27939403 uuid:e4f61700-8e5d-4bfe-bf02-fef7b7e23565 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27939403 uuid:1ae732ab-44f7-49c4-ba91-b29b29ea1f82 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:8ccf9b46-abdb-4891-97df-771943535e20 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:a9b19a35-d2a9-4f72-913d-9f7ab6b1dc1e phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:07f39346-0640-4d2a-b08d-2a1ae7cbd79b phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d18cb1b2-e595-4050-809b-9d7385be417c phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:3e8b70dd-d16d-43a2-9793-eb4489539816 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c192f6d7-3eff-4571-bf17-a07f39f488e6 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c9d3d7f6-a541-4a15-a69d-8ca7d4429d8c phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:faae81ad-067a-4f8e-af3e-cf6e55fa208c phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d88f1956-0199-42fd-ba1d-8db8a66a28cb phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d279e7da-15c2-4a98-ba97-aa43261cf6fc phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:16dc30ba-b33a-4e5e-8feb-1ba3dad6036e phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c318b420-a141-4753-a577-39f480bfd86f phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:b5189059-1486-4864-8769-546a643ed097 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:38f48ff8-9dff-4401-9cb4-96d8011b48ad phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:27939403 uuid:a684d5d5-5e54-4740-b198-a64036ab42a4 phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:75ea3fe2-e4dd-492d-b6a5-20f7111daf54 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:59095d8d-9b98-47b1-afe9-4dc4d153feb7 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:33e1df6c-0caf-42f7-9b8a-5d2e7b4b656f phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:6db11d4f-3e19-42e5-964e-9dc56aae854f phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:16ac383d-8dec-42ab-88e6-2ef4674a6db0 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:eccbf3f0-edd1-4d15-8d7f-8a213e86d96e phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ec05e992-08f0-473c-9348-51531ea7a923 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:36fa3647-4bae-4456-9610-f4e372ad9854 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:9241ae6a-3955-4a11-b315-43483ea3862b phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:70e95629-7e40-49dc-95c3-52d2ae408d1e phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:5dba8406-affe-4feb-95b5-4c7d7a3f0222 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:54c5a22c-4e93-4627-a05c-4e28b82c3439 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:4f8b5087-9730-44cb-b60e-81654fafc830 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:b9f95c28-81be-4880-81d1-ae80030f56cf phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:da0c5c1e-0015-41ab-b19a-e2933d2da0e1 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:160aa9ea-3a0c-410e-9670-fd7d3bf40592 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:25ec8c10-a097-4c13-a448-843b9ce2c02c phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:a87b2c91-67c5-4a0f-b306-1335206917ef phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c883ad75-0d6d-447e-a099-0d4a53b456fa phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:6cca3401-f138-456f-8561-2f47e58be33c phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:499daf9f-eea9-484e-83f5-3d001ae710f3 phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:5580b885-4b08-4fe5-94ed-6e0843fdbe14 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:28096536 uuid:abbf725d-5adc-471a-97aa-e24525647306 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28096536 uuid:18c5c00c-6195-41d2-a7f0-43b77fe159b0 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28096536 uuid:a68e05e7-0011-47e5-991e-1979d7074bc1 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28096536 uuid:10741c86-7d1e-454d-a59e-609bb3d9987e phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28096536 uuid:76fbb372-2577-4072-b46e-9e44dc0ef459 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28096536 uuid:35fe88e8-108c-41a3-8945-08b58dd90f11 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28096536 uuid:fe810b8e-e7b4-42f0-a366-98340961707c phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:28096536 uuid:7fe8a810-3f32-495b-a9ce-bc39ddfdd23a phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28096536 uuid:fcee015e-2744-4e0f-a88a-469c68729906 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28096536 uuid:b29334eb-06c8-41c0-9339-e92bfff2ba97 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28096536 uuid:3816b871-4174-4372-9bc4-fa7e2cde4f4b phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28096536 uuid:42a22d2f-97b7-40a8-af1a-09a63ac4c09e phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28096536 uuid:c234dd19-2aa0-45ba-8ace-dde31956a59b phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:28096536 uuid:3639b7da-693a-4c4b-bb9a-7f977a6c18c2 phenopacket.store:IKZF1.PMID_28096536_patient biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28096536 uuid:b3e5cc7e-57c8-429c-a9f1-b7b86e837030 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:28927821 uuid:c70649d5-f946-44ec-8239-f65e79c2ff94 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:28927821 uuid:e87b343b-a53c-4ec6-9202-2d85e7d11cef phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:28927821 uuid:d09f92ac-d3ba-4f1c-ae56-dabdf8560601 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:28927821 uuid:b149bcc9-3a4f-44ce-bf8b-0d94fd098f3e phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28927821 uuid:f491a7d4-06bf-4962-ba89-51ef59e4a357 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28927821 uuid:168892e9-6e90-440a-94d5-0e9faf8a6a61 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:e20b2a47-d3c0-46ca-b16f-51ecde8bcfc2 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:fb9dd895-eda9-4409-96ed-13ee8befd8fb phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:96f538c1-7e23-49eb-95e6-a2bd33de7369 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:5c838c26-16e5-4865-babd-2a0834700fdd phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:12979053-50dd-46a4-a2a0-3836bb7393cc phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:d0e3c3db-3304-4402-a2b3-5a006c73d1b5 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:8b0ff337-c300-4d51-bff1-9f6e88d687d4 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_phenotype HP:6001064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:9a3a5ffd-de56-4e11-9247-5e231347f643 phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28927821 uuid:690f875c-9f50-4b81-b303-042c6ad2616e phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28927821 uuid:7f68e712-6bc0-464a-9ef9-adf7aae3a5c2 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:ee8f0760-319c-404e-a942-9ba8f28306d9 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:f62ac8d0-2b3f-49e2-ab9f-9b2c55e5092f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:7afe2109-b31f-4ed4-8557-f92b1cacee28 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:432de15c-1f8a-41bb-9987-8412a5d5ddaa phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8b3966f3-2a71-4d94-8c74-65cdf98f1530 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:ff5b31bb-b0c8-4990-9924-d21c1b2932a9 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1515c373-f188-413c-ad8b-732b95e95eeb phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:05ef38db-c128-45fa-95cc-eb76a9cb64ef phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:0a89d482-8600-4294-801e-df4195a86940 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4d9a508d-742e-4d49-a247-221005f4110f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a3222dbe-5362-4548-9d00-d9b70efe31de phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:d0ce701b-320d-4953-9f02-eb835f5bc0a5 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:972e53b7-399c-4b17-9897-4394db5f7a63 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:cb26b79c-4964-4010-bd75-009145fff57f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:27269684-1300-475d-8efb-8d567c90b493 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:7cc9d4b6-9f48-4aa5-bf50-2c295b18f40d phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:aeb80b98-37c2-4f1b-98e4-a128472d1894 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:7241e896-91ef-4b16-a8b2-eea477330554 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:2d40ea3a-7517-4348-9c1c-b081397a5d72 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:276ecf5c-aa66-451a-b9df-b1cdb7a0ddb0 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:31057532 uuid:b9c0f7bc-9653-459a-9c12-89b7d3327f63 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:ac4f483f-e588-446f-b132-2fcc436a4d44 phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:38734037 uuid:97d95a17-06da-4ada-8006-d07f73cd918e phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:38734037 uuid:6c8a2f7c-f08b-4878-a8e2-e0365a2d4a8b phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:38734037 uuid:f12c3d9e-1c21-4db0-8fd5-433a793b91fd phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:38734037 uuid:886b570f-760c-454f-a43e-7effee4bae34 phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38734037 uuid:4a57959a-ee79-47ea-a2ac-a13d8a3aa40f phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:e7f2b435-a1b3-401f-999d-c56e9acf420e phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:cded90d7-4051-483c-8fbd-5657c6161379 phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P1Y8M infores:phenopacket-store PMID:38734037 uuid:3fee8c42-e400-4361-96f4-bbbb0910247a phenopacket.store:IKZF1.PMID_38734037_sister biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38734037 uuid:e6f43e25-80f0-4b3a-a5eb-98aee4b7f9d3 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26981933 uuid:623bb091-4a34-4397-892d-6b53d8fcc329 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:26981933 uuid:4cd5d070-bba0-4436-b0fb-842084c1527e phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:1c67db60-3556-4ec7-8f75-fafd1301ac0d phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2ba8c197-8254-4582-9d02-ec4b8398399c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:438c9187-7afd-4621-b31b-434d92dc339f phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:c8d538d1-8a30-4ba7-b40d-b9b8cc8912a9 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7a5c31cb-8dc0-40a3-bc19-1f86b8a59667 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6f1dc534-5256-4309-8dd5-c0b7a8f9002a phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f13f13b6-9b17-460d-b7d6-ad16cc05a184 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:3fd5a212-248b-49a2-8d86-00a6efb72a93 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fa6dba8d-0490-4d04-b82a-cf251696be27 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4cd1dbe1-c09a-4584-b392-6e3633bd8a32 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fe45ead3-df4c-4f07-972a-5fb7f1327de2 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:082aca51-959d-43c7-8e08-12011a21d62a phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:915c801b-8dc2-481b-9b52-22801c072df8 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7fa66411-1922-4bfd-b51e-fc8209f03abe phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:61cfe6db-bc6b-42eb-aad0-5f4deff9e40b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f1bac1bf-7cef-48b0-b973-a7254b22a5a5 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26981933 uuid:116ecfa8-5ef6-4e31-b947-9174aad283d3 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:016c0c34-1f20-406e-943a-215de85a4395 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:28927821 uuid:6df6f116-e221-4d94-9a94-c6425b05af05 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28927821 uuid:91dcb93e-7ce2-4067-afb8-dd249f4c058e phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:695cfc6e-7f62-49fc-be17-ee59bebd7e43 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:a9f3c723-d295-41a5-81c2-b3b8a36a2980 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:4d4f13d6-dc09-43ac-a8d3-c3c96595e35f phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:41f77f35-3146-44a0-bf2a-8f1c84e23b4b phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:e4c9344c-8e89-47b8-8e10-a2d70b3a0f80 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:e1218dfd-5df0-401b-ac76-618cc22f2ca4 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:8e3d7add-d52a-4654-9b9b-6d275244f75e phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:2885461d-630d-4e12-a474-131fd89ddb02 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:5037b46b-90b7-421e-b9ef-80cecb61f0c5 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:ddc2c01f-3e26-4698-a463-e7181972d172 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_phenotype HP:6001064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28927821 uuid:50eb382c-ba55-4143-a67c-316d65e8b2d4 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:28927821 uuid:4d41a15c-fbfc-43f8-a53b-a22b4ac62bb6 phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28927821 uuid:2b6d54a2-a2db-4e95-9abb-45eb4afd3692 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:31069201 uuid:34a85735-8dfa-4842-ae4d-342285ecf6e7 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:31069201 uuid:2a7c0bd6-7508-45fc-ae2c-b35cfca142ff phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:31069201 uuid:5c6469db-5333-4850-9278-b438dd3a895d phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31069201 uuid:1d11baba-e515-44ea-be57-5de58452ee14 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31069201 uuid:4fb28465-5b73-4bac-8002-adb456a2692f phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31069201 uuid:ea945545-bf8c-4c65-b3ea-394665c3d308 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:9212d9cf-2721-46ae-851e-a1467447c235 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:2ab614c4-8de9-4b22-acf2-e839296468b7 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:1583bd8e-2184-4679-9435-2c023c5471dc phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:8e2bb615-9b76-4039-a240-ce781d2a138e phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:b2eb22a9-f20a-4023-82e5-513e9764f2f2 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:47961126-7c9d-410a-b649-c472448ff323 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:476125b9-c063-4cea-bcff-e421ca83064c phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:be9929eb-c559-40ff-9102-861aedfb7978 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:1ac8dc1f-d4ec-4fc4-8912-3ab8b77d4daa phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:b32bde01-deab-406a-b04d-eb3a91aa1975 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:9084f6b1-c5ed-41d7-8c7c-567b0973ff74 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:8cb14b1c-08e1-4d05-8c81-cfdf6b7e31fd phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:03a5e3aa-b8dd-4ce6-a621-dbf5a080b44c phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:6a130047-868c-4c26-add6-4158d26c8fdc phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:a00acc91-81f7-4598-984a-af97549fc03a phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:db585c2f-9a72-4301-808a-2074fc25e64f phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:edf6ff8e-5a66-41f9-bc4d-39d72c09507f phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:c808d7dc-0e8a-4aad-98ce-41ba7c1a6ab9 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:eaf655e9-0a2b-4395-9fba-1a8325083077 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:54d356ff-f9ed-4308-8925-b6d249630617 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:460ca522-9d27-4bef-a965-65bc8db48f95 phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:31069201 uuid:04f325b3-d5e1-4748-9a15-7dce07706f7d phenopacket.store:IKZF1.PMID_31069201_Mother biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31069201 uuid:dd898538-c43d-4f7f-ae80-440175cc8f57 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29889099 uuid:b1e8a897-c3b0-4c6b-bb50-024283f0219b phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29889099 uuid:f531d433-7b7d-47d3-9439-0352891fc245 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29889099 uuid:2801d91b-2da9-4d29-a53e-b8375deeb4eb phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29889099 uuid:6a1a430d-9c55-4294-b6e2-ec4a1e2447b5 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29889099 uuid:768723e6-b12c-415f-8d06-3bebc9628139 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:6c4326e4-d3eb-4370-90fa-3cdc3e4acc62 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:ed6a0a36-440f-4dd9-8969-40b4d6759116 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:dd81caea-bb2e-48e2-a4fc-5078acb31e5b phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:170c4f7b-b845-4cfd-a9e3-4397d7b63156 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:cfb5d5a5-c9a1-477c-b590-2f25be7277d6 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:5506f89b-f9f0-494e-a4e5-86456c517694 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ba58026f-47c6-4e08-9322-8de69479b9f6 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:e0bb1937-4447-4afc-b28e-9aadf145d782 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:420472f0-561e-45c3-a87d-8059dd4d5aa1 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:afaef7c6-7532-4696-aad3-781893d51294 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:e6030ac9-53fb-4033-8c4f-9ccf7763a2a7 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:91a359a7-c913-4f8f-baab-9fc8edb8dd80 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:815679b9-1b5d-4723-b333-f034f841d8f9 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a995037c-1375-496d-bc39-4aec7fb6eb95 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:0c537ae6-a1a2-4c61-80e9-5ab192669d32 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:6576bc9e-0d51-42a8-b29b-058384830ee4 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:c243a2fe-23f5-4bb8-9557-d6ed3001ff09 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29889099 uuid:d461defe-5137-420b-a6b5-733b96118ec2 phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:b47846e6-d02a-4e31-bc0e-6d22c8aa86fb phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29889099 uuid:8e0cd0e2-9c3e-4751-afa9-506cb2ddbff5 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:cad3585d-9338-40b5-b62c-196256ab25d1 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:a416f00f-df5b-4b6a-a4cc-6b896fe309ad phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:1e627b84-ff18-4d38-aa5c-f08c41bb6cca phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:db24d65a-5248-43b0-8443-7bfc2c0cfffd phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:d9955e2b-d296-4237-afcb-8bb61a750bf9 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:6274b038-207e-4f03-92b4-713c2b5a2f82 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:460423f2-70b0-4a37-abc2-c2d5743ede09 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:cb6ce995-b04b-4745-9119-12f2529461d2 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ece71454-0640-4bea-b770-ecc345c5ee9c phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a26736f7-1e26-4685-a70e-2a17ff816a48 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:9d7748a4-e352-439d-9220-fd6d0d1a2a65 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d68cbe98-2166-4736-93dc-d79fe040ccca phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a264351f-f47e-4e02-b455-621631664e48 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:e9e12b86-7a84-4fd4-b3ab-d3c12c63452e phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:11955a4b-bc73-4232-8686-60c5347e4706 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ca13be14-db5d-4f62-bc97-52c858606997 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:fb3f711a-6087-46cb-9d41-aae39882508a phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d749b840-0706-41db-b8ff-dae3f72ace6d phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:07c47348-656f-4c1d-9c24-261633519274 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:5f7c0e79-0f01-4228-bc2f-d939081cd946 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:29889099 uuid:772b1c33-75d1-40b2-b86d-cad8b23297a5 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:9e9fde1c-bba7-4137-bc5f-52fc9a854647 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:f56da97b-6cf7-4918-9069-23d7bb53214b phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:19a2f6e3-eae4-40a2-8e66-0832dab720d8 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:dbf9e01a-1bb1-4ee8-8a1b-815b673237fa phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8c4c34e2-0035-4261-a33b-9757e30b61ff phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:5480219c-8b58-4cce-9835-88060bc4eb5c phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:391bd380-895c-494a-ae22-b5b9652a53a3 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4d7e99df-b7e9-4985-9083-311efb56dfb2 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:b5384922-fab8-4455-a202-cafa31ed51dc phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e9873e23-639b-45db-93e9-ef97242c8cd4 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P8D infores:phenopacket-store PMID:31057532 uuid:6c9cdb9b-5e3c-4eb6-ac56-a4394daae2c3 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:faafc17a-85d2-48e1-b019-b0ae08c1ebf9 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38734037 uuid:c7112b2f-3e55-486b-9b13-a2e90f7d2638 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38734037 uuid:43e58cdd-3e7a-4bec-bb05-e6e97ef34a01 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38734037 uuid:34924e3d-311e-47c0-88a4-98c67cda0d43 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:6f1c9dd0-a106-413e-9f44-6c1f01dc0a3c phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:cd54c71a-3b7e-4fd6-a56d-6988c876bdf6 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:ef321914-e88a-452d-ba4c-6536ee3c6513 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:12dc708c-3131-4a00-b965-85d05c5f7c6e phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38734037 uuid:47f29eba-16af-46aa-abe6-3568d72b5843 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:38734037 uuid:1447fde5-f628-4dcc-9632-fc329e180464 phenopacket.store:IKZF1.PMID_38734037_proband biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38734037 uuid:acbfe0a1-d6d6-4e62-b27a-9d1ca8cff3bf phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:14dfd4a8-81fe-4ded-b89f-ac62e0742b65 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:9edd15ba-526a-40ed-b46a-b7360bbb3f2e phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:f6a159ba-d20a-4c27-b1ef-45f4b4e41225 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:ceeff450-ef40-4c36-907c-abd548f5ff71 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:73e86935-6d66-42f9-9acd-88b7fa7ea160 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:1848c7bc-5c5a-4cf1-b619-b315f9d6236c phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:db3ef4c1-f6f2-40a1-a97b-fa9c8a58bd3e phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:747b094d-b2f3-46c9-8213-365f276642b1 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:88de1c69-7508-432c-b587-93f069b97d7c phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:2ff84bfe-b952-4d30-9870-b9020f85b052 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:341ae137-dd22-4ce1-8d9f-be4082d261ef phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:f2654d1c-f26c-4cc7-bda6-12cbae15cc12 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:1285619f-aac2-4944-83a3-67ef57beb8f2 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:bd515dd6-2502-4029-9753-875be809e3f3 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:5c718ce6-e0d9-414e-8d48-4e5c0ece6dba phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:2d9d5c98-270f-41c4-b949-8b99aa2a6712 phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:27939403 uuid:cd821caa-70e2-4cca-bf65-338be3171b5e phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:a85f7f29-6e86-4b26-bc38-7a8476779570 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:1c1377d6-93fe-49f3-9477-46b66f0d19ae phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:6d2cb358-6de0-4b51-9ebf-685a1e413e41 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:8278a2f7-1f29-4119-b6a1-076682d4b798 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b841c294-9a37-4d67-a797-7dcc254d54c0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:aec4bf8b-6e12-4d7a-967f-45ba29da0c15 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e675637b-c10a-41e7-a5f0-91dbd953b70d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:dc6aec2f-cc10-4b3c-849b-8f5c2f508ad6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:eb1b43c6-1aa7-49f3-ba6e-aa9c330d5733 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:96746b0b-e664-4392-9a03-6bc240bb53e2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:29ccea63-2bb9-4d53-bcf3-a98d6552441d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:954df44f-2d6b-416b-b150-b3faade723f4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2cd40d9c-e16d-4e38-aa12-da5e97e3524d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a05b0e31-2738-4741-90e1-2db46dc1b0cd phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9df34504-206d-446e-898e-5fffb209f2a7 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:577b5a6f-bb8f-4acc-b470-3da08e8e42e3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b91e5891-2873-4dcd-ad80-81b084abe616 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fd98de51-5b30-49d0-a689-dfc30208017a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d33de59b-c80e-4e6a-972a-4e2da9d3f66d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a7dcb48a-6926-484a-9992-a2efe900583d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:21a0f536-cd33-4e2e-9527-5f62d53068de phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:26981933 uuid:96cc616f-434d-492e-bb9d-963db538619b phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:c383b7e9-3fac-469b-9fde-44e64324ae2f phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e7485449-ba27-4c88-b68f-730b68ed0cae phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:d4f213a9-d8c2-4136-b59a-73ccdefa821b phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:26981933 uuid:05f973aa-45d8-4ff3-9c60-3e6e54ce57c8 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:f2a937fd-b60a-45c8-b89f-bf59de8a7dea phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:edd5dfdf-1bc7-4ff2-9923-e5c03acab4fc phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:917600a1-3d0f-42e9-bfca-c048914b9aa3 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:72d9861b-73f6-4afa-9c99-47836ff33b9a phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b248826c-5a5b-4abc-9d9e-317989b7ee9e phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:64978028-1187-4abb-90c8-f95997f7a677 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6bd9a3e5-e861-4dcf-a331-4619ecc6766e phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ca956508-9f0a-402b-a649-f95a15942bea phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1598e12a-a1f7-48c8-9682-fd8b34908c49 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:54462419-84ae-4610-bc71-e1299e8cb52c phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7aa22e05-646a-4856-9924-ad61a1d9b71e phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1d16b844-e147-47a4-8a8b-e17de3a9d775 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:186e36dd-ef1d-4d7b-8d09-6a77ac3fb88c phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e636a24a-8b64-4bb4-b5aa-8b6eeb156e40 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b2a5e8ad-a796-4cd6-b50e-8e002f243b75 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26981933 uuid:7189a066-6f85-4bf4-ab9c-ced31df072ea phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:a71daf1d-baf1-4a95-9132-bf3f892d9462 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:8cdba883-6b35-4c98-88d2-ada4c63d034f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:354b69d3-5924-4e80-bb96-da7ab860e25f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:af83de47-e92f-41ca-9306-101cc7d6d959 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:2a79f27f-5e4c-4df4-bad0-25a7d7bb8f9e phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:894fcf17-ebe6-47e0-8bbe-3405869ac8b9 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:063018c9-7bb2-4aa5-8fee-790732747cf0 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:41d4d0b9-6475-4afd-99d9-cac15b8d570c phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:d6dfb947-902a-419c-bd9f-8ba4a210ea2d phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:b17f3c94-d61b-478a-b6a4-320b58a7e712 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:378b897f-89ad-402f-b6ab-3222424ba6a7 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:c33f73cd-e489-4b50-a4ba-df3a5b70316e phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:52a96df2-e874-41c7-89a0-7edc8e14353f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:7f9c3d54-8a8e-4a46-9107-0e05840331b1 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:95214baa-1f28-40f8-aebc-14425aead548 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e2490df2-90e6-4d77-91fa-fa224708d2ff phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:48de9fb9-3bcf-4fba-9688-11532acea2d3 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:86bca0ca-028e-4844-80a0-b7f381a5e09e phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9d3fb6ab-5460-4eb0-a689-06a067fe87ed phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:ac0e5ac2-6536-4ba3-9bce-fc3f7132091f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:af4462fc-9740-4084-a43f-70db1fe26114 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:31057532 uuid:e419f46a-c015-4857-a669-188dee74770f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:5837b915-1ab8-4c25-8cc4-e46aea916a3f phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29889099 uuid:be7b3b5f-83d7-444d-abf3-84aaa7f01bea phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29889099 uuid:96956a01-4408-47c4-9020-9eac8fc78a8b phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29889099 uuid:60c1e55e-b266-4b82-b562-b27203b6b418 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29889099 uuid:ecaa0341-5f6a-4177-adc9-b07b2cb88f1e phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29889099 uuid:dea0d2c9-3211-4c71-b073-79bab35c8b85 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:bacc8060-d49c-4da0-8661-4ca65a90b518 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:5b28e415-e8b6-49dc-8a55-876f48aa4e83 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:7d013144-75cd-454b-89b5-73a6fbe493a7 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:5f6484da-44bf-4b58-abcc-b7d821b619c1 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:29c6b3ad-79b1-467c-8c2a-e912fda7bb71 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:bd63077f-2d4a-4ed4-9e49-16136941db40 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:da56163b-eb9d-4efd-b0a3-d91dce60788a phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:b9c4eaed-e1e6-4bb7-9938-b89c0502c952 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:5e1e9172-85e3-45cd-b457-4642679436ba phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:6d400427-b15a-4232-99a9-8e701c4d5246 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ddf12e5e-752e-427b-a751-da022e55fdca phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ef104113-e349-43f1-9fc4-ab912bc577f8 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d0e30a54-5dc7-4aad-8af4-0393e82f9fc1 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:3e148cf8-52da-4579-bb8a-b46fad9b3adf phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:fae853a8-fa4d-4e77-976f-1bffffaaa7df phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:6aa29403-e5b2-428e-911a-af096eb9b567 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:29889099 uuid:cdc164f3-e5ea-4ef3-8829-924f099f50f9 phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:501604af-9088-4e4f-a051-06b619b80ebe phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27939403 uuid:3b0a486c-317f-4eea-be97-3b17f23c5d89 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27939403 uuid:7d82e6d1-d952-41c8-bea4-641416176383 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27939403 uuid:48e22f59-44b5-412f-850f-c2328607c035 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27939403 uuid:98a6940e-1f72-4391-b358-40545afe9fa6 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27939403 uuid:0b845707-bafe-46c9-b4bd-e5ef5624940f phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:27939403 uuid:1e0e2472-ddf2-41ed-a516-bab9fb36b4ef phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:6d55b5b1-867c-4c00-93fb-df2793f9e9ce phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:8cf8220f-6a5c-49fc-9d2d-ee53f7d8a491 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:a5a349ff-a9ad-4241-b6b7-16292af00983 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:232c7905-d216-4f21-baec-287d5318107c phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:2278c751-ced8-48f5-b32a-b20d841874d8 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:8057b1a4-8786-4ab4-9eb7-acd091d90359 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:106447a8-ef40-4f26-bed6-a05cdf170130 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:bf7af50c-f16c-4e81-b1a4-c3cd1c6bdfd5 phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d97eea1e-ed00-43f6-a6f0-402d3badddaa phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:9fdb4d1e-edbd-42e5-b4b5-484cfab189fc phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:aa5e22ef-d520-4274-929b-b32bdcd9827b phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:68b4f200-1cfe-4c99-afd2-59ed04abfa0f phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:27939403 uuid:c7e9288a-10a2-4e55-83ed-2820b759c6fd phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:3df2fb8c-072f-4731-9c7b-baebe7866479 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:d1332572-3f2f-412f-a8f7-4f418543a00a phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:3337eed0-d08c-4c49-b66f-182651e18de1 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:2d3b3d5a-5558-4241-b504-77aee784aab2 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:21548011 uuid:126ff8aa-de9c-43e8-8a85-19adb8de497c phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:21548011 uuid:b34979d1-2d08-413b-8968-24edfcb4d6ff phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:21548011 uuid:aaa31a08-ca6f-4ff7-8ef2-97e4779a5d9d phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:21548011 uuid:aab62915-cc2b-4763-a9e2-0cc0b91970a5 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:21548011 uuid:ddf14e63-7b59-4d90-a0e6-4550bcb0599c phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:3fb76b60-4a24-45bb-a362-954ee5863502 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:e0f6740e-1075-429a-899d-39bb65049442 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0025716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:638ca04c-189a-4793-accf-de54f3f4be56 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21548011 uuid:b09e59c0-0641-4ac8-9060-9432d604c25a phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:20a97876-ac7c-4341-9337-81a71698906f phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:34ee83ea-3168-4c9e-ba28-05cb676c097d phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:7935f639-4784-4e9e-93c3-c8fd8ecb2a50 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:98ccb545-2981-46cf-b3fe-c34f0e8a2e02 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:10c2224f-f0b0-4460-a5c1-81b68e04fd49 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:276ee05a-6355-47a1-a235-17295ce32c66 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0002170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:3d53528b-326d-423e-97d9-db3deba963c4 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0011842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:2d7edd28-cc96-4b26-971c-5bf8776da196 phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_phenotype HP:0040012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21548011 uuid:9f52641f-2c1c-46a5-934f-f6d897b8f35f phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21548011 uuid:f58324ca-923b-43c5-9309-47f409de35da phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21548011 uuid:d21ec2b6-0c42-45c5-860b-14f487b3c9b5 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:26981933 uuid:357dd26e-7e8c-4978-8946-01d76072c5e6 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e0381a31-f06b-4f42-bcaa-b4ee09edd48e phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:78e226b2-82c7-4224-8db1-73e927ee4c75 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2d38c8de-7039-45de-b7a0-e0b3db43a977 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e9e8794c-82dc-4f44-aced-640c2b590079 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0e3f580a-f44c-45d8-b0b0-4081afbf81d7 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4ed66623-0322-44b4-a477-577818ad0c0f phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2434b094-b3e4-4be9-a75c-72541d1a1b86 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:363feda2-d382-4175-96bc-ce5487b86612 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cc6ec3d4-b04d-4868-99bd-90d5cd523181 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:39beee55-b05d-47be-923a-cf318da22f14 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2a6171ba-0836-447c-bb08-395412665fac phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:af54c156-5002-4e31-85c8-1f308db976fc phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7a17972f-3198-43b2-a959-4079cf9fe1c1 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c82eef28-5bba-4493-8494-9471f9de726d phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a2ac64cb-8354-4d7f-9f2e-8d9e6e804d88 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c90d1fe1-53df-4e0e-99c1-d30005f8ce65 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26981933 uuid:79e6cfd0-39f8-41ed-9826-4a34082392a4 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:84f87276-1920-4115-8093-c175c70e30d4 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:ba320d51-3c72-4d6f-b294-939bbbc07b26 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:d63e5506-44a4-4869-be65-94c339db0086 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:966bae05-0077-4a93-bacf-d1e44a7ca82a phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ab82644a-179d-4f44-9f88-2718972cfd12 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:906b4717-e787-4afc-b69c-4ffe199c60ff phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:3bb821df-15cc-4caa-8dff-5fb7d2e38648 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:39db5875-5c65-4fde-917f-793bf22fab9c phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:cfe67c12-ac4b-465a-8309-dd931e3abfd1 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d59ac700-cd47-4ed8-a373-43939e9d58bc phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:018a4ff2-662e-408d-9ffc-e9b36e9c50f7 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:2134c859-9fef-44fc-96e6-6e263dc6c321 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:f454cef7-f5f6-4f82-aac2-d69de4440f83 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:07dc9a23-3f92-42ee-b54e-b3a58a625908 phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:b7c8db22-150d-4373-9175-371209d83fca phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:5ca33763-47bb-42c9-835c-e22f157a861a phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:802c705b-3da8-4b2b-b4d5-31096db5fb1d phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:27939403 uuid:728cecc6-b371-4c00-ad2b-ec5c368e991d phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:37d0e835-d1e4-4419-b23f-c62c13f04165 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:924c0c37-b9eb-44e8-ad27-a637eff9e70b phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:464c293d-882e-420f-8a85-fc2914021fae phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:841c073f-30ae-4304-a68b-50859dc9cf84 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:f68f2644-83e2-494e-9df5-b34dd8d3a3e2 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:0a85610a-73ea-49a6-b000-30cc1aa38b50 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:8e1a70dc-f466-4a25-95a5-8f7e473ed28b phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:fed99325-cae0-4457-8393-b513143f2031 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:4b1fb458-a771-460c-a30c-e76e78b5d8d0 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:e108d8c2-1b37-4156-a86d-81a6eece719f phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:30965037 uuid:bdef858f-dc8b-46bf-bb6a-215fd5e4bde8 phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30965037 uuid:e684e557-ba4e-491a-a9b4-361bc3e83953 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26981933 uuid:a6694664-7b0e-488f-92e2-77062bf5a589 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a44e705a-54a9-440f-9d04-a82b3afa2028 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8ce2d666-22eb-4f84-8bb9-cc1aa9133227 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9c98055c-7705-4a49-95ca-1793456f4a14 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a9ca1ea3-67ea-4b73-b6ee-d6903984c8df phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b71870e5-34cd-43dc-9a64-f03f4e637b3b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8981197e-c5f1-4109-bff0-d7db467339c3 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1200f965-2dea-43bf-9406-ad7f5f13414f phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e6656588-b944-43bf-8e35-018e5c614541 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c1984c14-c344-41c9-9f18-dd4860edd962 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7b4371e7-070e-4b71-9ec2-16971bbb722b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26981933 uuid:c3d710e3-5316-47d2-94c8-fc6cf2c7493f phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:0f34bea8-cabd-4ebc-97fd-7152e62a98d1 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:b2535a5c-a6b1-421d-a19c-a461214cc84c phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:952e53c1-a4d9-48a1-ba80-c6f516a78fc3 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:ea5d6a47-2fcf-4664-bdf5-a4dfbbc29f6b phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:12197237-ad14-4f66-92c4-f9b414ca2c1d phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9c423140-0ff5-4457-827d-d6cc5e38d259 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8efd84db-50f3-4017-9fdb-a456bf826582 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:2529211b-c7ed-4c94-85cd-6afbe31dfae1 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:5643f3bf-8dd2-4cdb-90c2-f3c11b794d9a phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:98dfb62f-a049-44b8-a549-cbaf871e8535 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:c489f6f3-7d95-49b3-b73a-8479764965a0 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:6f15442f-e419-49dd-ab8e-dd8f2da1d489 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:42e72d40-73bb-4ff5-9ffb-f3067c79e8dc phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1eef4c30-e909-4b5c-b4f2-84643a75d15c phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:59e50054-cb3e-4366-9743-80ac926fae23 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:82021bf3-e4e1-46fe-a279-0e37e1df6ecc phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8cbe6be5-f8be-48f3-9808-363db33de7c8 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:095c4556-5c93-41f8-9da2-c72ddbbfb377 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:b132a01e-f744-47a9-84e2-d89c0b95a60a phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:cf17e0c1-37bd-4dca-9d84-acbfba018da3 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4138f5d9-3f9b-4edc-8467-6365899009a6 phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:31057532 uuid:566f04e7-fe28-4e28-a296-a158cd11933a phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:ed5f0abf-a3dc-4a9e-b487-c6c074c2a1c8 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:6530d163-e642-4e60-85f4-89c90b36531d phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:5e66ba6b-1775-41c4-b3f4-c1ee6f190afa phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:15305eb3-dbc5-4cde-9fa6-d7750f9d8e82 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:33a72bbf-3651-47c0-9970-5e4f80f42a1f phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:4ab6c361-6e1a-4ddb-a2cb-2ba84b834a57 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c1807f57-57d6-432d-9805-09af49a847fd phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:6128ef14-b286-44dc-9a5a-2e6abf5bb958 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:eb5519c4-090e-4e0f-8a6b-fecb601b1d7d phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ef880881-cd62-4935-b9b1-6db7a3774796 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ffeb13bf-e938-49f3-8e36-ba274b9a6a29 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:f9848f6a-9ec0-4d8a-9c00-85e4d37ef8d6 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:12483ca2-f62d-4f90-ae61-bf3ab8578f7b phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:6b9d83a9-a81a-4261-aabb-62ea2481a0fe phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:57d2c46a-6f91-4db9-95f3-12e832dcfa97 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:14b9087b-eff8-4ead-b89b-4152df467f20 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:732435ca-bd2a-4b68-b36f-03c8b14783b9 phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:27939403 uuid:8959b931-de1a-4cd8-a2da-de8f1d88af5b phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:e843ac06-f61a-4434-8931-6cfdfc0e8afb phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:26981933 uuid:a4d212a3-83fd-4481-8495-7de9b5916c8b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:26981933 uuid:63c44ca5-ea08-4eb8-908f-2148c4cf8e92 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:26981933 uuid:6182b52b-5296-431a-9cac-10eb7c12e261 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:0615cc2b-a45a-4724-822e-5e72ccac5df9 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:f0a02b62-c23b-4163-99b1-e2b9ad79f041 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b9a26aba-7e4a-43a2-b482-1b22d3d59ad7 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:02ebde9f-4674-487a-860c-ef6d29a9cd88 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:eda2f06b-7a60-4406-b072-270fa57be206 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:05ce84be-fa05-4ba6-82ac-885d3210818c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5f61aa99-6948-4559-b216-b6af4fb6d980 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f105efd8-cdfc-4709-844c-b331d5247210 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:75287c84-76cf-4b9d-9ada-bd23941ca7c6 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a416b644-645a-48e0-b5e1-cf8b7ca4ae1e phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e8fd9d77-b1e3-4501-ad8a-f456bfe2cb48 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5f4165e8-eab1-4a83-ae5b-ae9f309a309c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:95c8dcbd-8ec4-4a94-9f2d-cabf6c324591 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b103774a-404e-49f2-9771-9de932527eaf phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f14b647d-0615-487a-9baa-1cf7b909fb5c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:db5eccf3-4b5c-4495-b7b8-ef7e10e4ce8d phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1bf8c9bf-78a4-45d2-93c3-6e20814727d1 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P43Y infores:phenopacket-store PMID:26981933 uuid:86b05419-c973-490d-919e-dea6bec9bb92 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:a940c867-d164-4050-9bcd-e91afe85f1db phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:27939403 uuid:f08d5169-d20e-4144-a026-4a1dbeecc80e phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:27939403 uuid:09fef426-e400-4c2a-835d-ea39e57649bb phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:27939403 uuid:f3c0b051-8f6c-476e-a774-8dcfcc354676 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:e61a3dc1-278f-49bb-ac57-5905aa620687 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:73922e8a-cb3f-4447-ae19-d23d33be6dd6 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:c08ead6a-af8f-4899-a55c-35c9b9871fd5 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:cd6b0a48-4c82-41df-ade8-d4c0f93f0289 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:a719f75b-b445-484b-85d1-de4d0e7ef510 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:47d768ff-ed7e-45dd-b9d8-15e30e38a146 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:dc80e047-d746-4a1e-8b3d-8a123ee33bc1 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c6430a93-4afa-4e18-b34c-5a896daf5f8c phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:1c01ad6e-3d3e-4d10-8f2d-2f22171f6218 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:edb2bc3b-5445-42ca-b826-e2011d2b6eb2 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:3d9f834d-f33f-46fc-801a-7717d6b850dc phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:33a26074-5281-4a75-9b19-a38a2c931ffd phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:0f7b5043-4375-4b34-a277-5a28d11d6af1 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d199f655-f4ee-4f24-a996-036231e6a1c2 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:b0626112-5806-4862-91d2-748c26dffd93 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:27939403 uuid:0703c5c2-9d0e-451b-a7f8-46e0490bb985 phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:9421e2b0-2804-4f0e-b50a-03cb113404d8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26981933 uuid:42d9b0fc-f42f-4279-a565-009397852042 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:26981933 uuid:508516b0-6e3a-4502-9240-2fd03c78552c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:cc1b8123-7a1e-4a9a-aa17-54c9ef97a248 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3d797a21-6417-43e4-bf47-cf67cf6881e8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:91717539-08b8-4651-915a-2e8c70e98a83 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:021dac1a-11df-4c85-bedd-531bd1b1ddc6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4f23bc2a-65e6-4a93-9fb9-6bc4800ecdf3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a3ce8133-a883-4b26-9a1a-9f603a0f0b25 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c5a40210-78fd-472d-a7b0-4dc353b02702 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8d227a64-a940-48e1-9b44-a59802c74cf6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6c5a021f-d576-4aff-a7f4-1399ed034e68 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6ff127cc-5f6f-4fa8-b659-1fdc6e9958a6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:21419994-5940-4dab-9e70-04a3506c9e14 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:acd27cd8-4b00-4d6a-9b6e-88c44e291a96 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1f33d1de-843f-4a8f-9a86-dd8c571a3969 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4604fd37-7da8-4e88-8f5c-3c81a567663d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:90175031-5b3e-4c22-beeb-3081a8e4a71a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:26981933 uuid:c4f928d0-0527-408a-997f-37aa73c8b4ae phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:182015b3-7bcc-4464-8dea-ad002209ca18 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3645f8d4-8bc2-4201-8c88-48ba78667752 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3653891c-cf76-4afe-8fa4-973850654164 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b745f46e-49a0-431e-9f77-2cf4b73d7666 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:84dd8cc4-59e2-4dcb-8da7-48d3bca81215 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:493ffcf0-8224-40ea-bf7f-21c0ae1b7a5a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:769688ab-bd74-48cc-973b-f3600e333930 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:55f2e1bb-04ad-4040-93bf-989e2dc71f51 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:888cfa9b-a130-4e8f-8e1e-59c8b2c063c2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2ce97065-3c8f-479e-af5c-5f56e9ee65f1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:03f26bff-5c54-4fc8-9c43-9f4e2c17d332 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0b01ee91-cef5-49b7-a7bf-8fd719238f19 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:668c7c7c-df08-41ed-9677-5bb30fab2afb phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9f74d408-3db4-4fee-a094-1b1cf45eb396 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:40d4dccd-711d-45b1-a8af-7694b7c96cd6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:379b08bb-0d99-4d63-9405-74439cc38e3a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e1af7df1-f790-4ce7-b0d3-862e86bb4103 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2b0dcf51-ea6b-4eb7-9c8e-1ced39f0baaa phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:dff3eaf6-d52a-4af2-990b-10322360f7b5 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0bbdeeaf-76e3-4b2c-a06b-87bdb512b5d1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:26981933 uuid:f9cf7167-1d4b-41e5-86a6-9934160c304c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:bfc188ce-fd95-44fe-bf0d-6e31c2a451be phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:d196cd00-9c4c-481d-a841-2f09b47f99fe phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:dd0e6d6c-c37f-4fb3-a276-43bcee3655eb phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:425686bd-c228-4345-91b6-a6a5cf7263eb phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:9d683733-d14e-4d9c-856e-37e9ecb60c48 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:67ac3bae-e383-4d5c-979c-36d079cc3e9e phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:a1b878e0-9e74-495b-9a98-8b1aa718913f phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:5fbaf135-5ccf-49bb-b0df-4e9c840a9509 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9d2ec5ce-0185-476b-8495-eb37819dd38f phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:00947db4-a859-4827-9e7c-4015431bbaf6 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:eda0c1e2-e21b-4ba7-9a8e-00c7132fd2bb phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:d0d9edfd-c59a-4d9f-ba15-1dddd458c193 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9ab6f1a0-a06b-4594-a567-5a6bab647ae2 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a6aa00a3-57de-4eaa-a8a5-e93344f822d9 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:54ac2ecd-4766-4d3c-91d7-16157fda2f8c phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:f9325a5c-fedd-46d5-8c77-849a5abbf31a phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:dd325883-9332-4b69-847b-5b98a00df037 phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:31057532 uuid:4b3b38a5-eb0c-4ffe-971d-48ad250bf49e phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:157d17dc-d6ca-4118-a41c-181febf3b7dc phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:26981933 uuid:76f8c04a-bfbd-4fd5-a727-58853e9112c3 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:26981933 uuid:23f4ebab-2ed5-4e1f-b2ca-8bf92bd6e64a phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:26981933 uuid:3cedaf12-cbb8-4d3a-b63a-128e0a829b73 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3b9781a5-504d-4d42-8c48-14c39894ab98 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:a2015a01-f72c-46cf-8df5-1a7db135bc18 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:9193a6b8-c515-445a-bdde-74ea48dbfa4c phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:78d0822c-6bba-4d76-9a23-fd3fd33c1d98 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1b9929cb-3e6c-44f2-a237-d527165575e4 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4a192918-424f-4835-a82c-19487310316b phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:89083373-0f3c-459c-a378-b235421baae8 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:717cc376-401e-44ee-8766-de91a21d50b9 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9ff0b52a-28fd-4315-97d2-64c19f8a5443 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1d1b262c-4dac-4069-a69a-2cc494af42ca phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c249bf71-5b5e-44c4-b05e-77f2a2e4c9b3 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cf07d492-2a1b-4d82-afa8-52165b373369 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:676c1b32-a46a-4a8d-9208-db875eedf44f phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0b150ad3-2602-4117-bc8d-4e8dae94b0e0 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:24494a43-3295-4bbd-91d8-d1207a59ad4f phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4751a36c-e20d-40fd-918b-afd5c18c7a7b phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f9cca8dc-e828-4394-bbd1-e63ca096144a phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:26981933 uuid:d60c6f61-16e9-4273-8b28-2aaf9aea59b2 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:c30d4fba-56eb-43a1-b768-ad00a4883c25 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:26981933 uuid:f43cfc83-4f09-4fcc-9579-add65263a079 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:26981933 uuid:e02d70f5-5d4d-407f-bc0c-73f1e28fe5e8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:91cd30ec-1f30-4e5e-8205-d8f518149ce6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:9a7541a2-f81a-44b2-857d-035178de7f76 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:65d31da7-9b77-47e4-bf8c-751d528d9411 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:775c78d8-eb81-4f44-9898-49416b04f0ce phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:993b183b-10b6-4728-be5f-b29d6f70817b phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d9a46190-bfc1-4f84-be07-d9e838c73f21 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:288bc69a-9015-4d56-9f1b-102968569147 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:53d8cb43-45e9-4f81-b830-f9323bda069d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6c6f3621-1421-42c1-b666-b666e9be5711 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:67ea3843-dd49-40ef-982b-8c170a90b708 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ac4cd837-c5e2-4aed-9973-64640007c9ad phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f3657168-5f74-4fe2-8be9-46cc3c9ea672 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:692d5602-5471-42e9-99c2-86f4964b57ef phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7ec0546b-c1d1-4f5c-b2c0-0cb79995ec58 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:841a74db-0fbf-4bfd-b067-1feb951875a8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f107a484-0f2a-4398-9425-fad1e43fac5c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:00676c9b-4afe-4c01-b77f-69b3ca1b1495 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:835f6ae1-dcf7-4a5a-b5ea-dd0a5f697a65 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:36d765f4-3388-4e1c-a0e4-99983fd662dd phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:26981933 uuid:a6f3c134-1464-41a9-b921-fc0cc4a648da phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:c20b069e-a007-4ebf-ad88-d4cdcd8f0554 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:b42221f5-13ee-4b97-9e5b-3e4ded17ddbd phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:2ed866db-439c-4dec-82b5-51f6dce7ce35 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1c4d2c89-c137-4486-b64c-541964567bc3 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8fe31327-58e2-471e-a4f9-a2c960760059 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:28c6adb9-b036-4aca-95bb-a03a93aa92a5 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a6c5bda3-bfab-4ba5-b7bf-191fda11d6a8 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:5a46fcb1-9082-4ea5-9b15-bd827659887d phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4bded6d5-0579-4444-a72f-f67ecc16adc4 phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:f63acb80-9018-41f7-bf3d-7b906b5fe07d phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:48cedddc-434d-4883-82a1-ed45473f019d phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:e0c0c75c-ba29-4c1c-8f3f-5bfa2978b78c phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:216f9b53-9438-43a0-a254-056fd6748521 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:96de624c-870d-4751-a000-26b0d5ef6f71 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:a13b56a4-a2b1-400a-97a3-3b56accdf598 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:6ec7b5fd-4d72-41ea-8e68-14ee747472b1 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:5006691e-0c3c-4408-aaa8-386c311065fb phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:4cd3e10c-928b-45f9-9dc9-606e59404194 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:02504279-1bf5-49e0-b071-305f5722bbc9 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:23e00bc4-ac14-434e-8a32-8543285ba5c6 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:b38daa6a-5487-4a41-813b-25a8f5e93701 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:f8c6d7b2-1d43-4966-8ca0-9ae7c476403b phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30965037 uuid:d619ed6c-b32f-4e9d-bcb1-6b336b396fb3 phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30965037 uuid:89a4b734-61a7-4cfe-8501-a2aa0dfb4b1b phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:5bee579e-ed33-4589-8d7c-035ab471a3f6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:26981933 uuid:34a0a48a-ca66-44bb-9376-47afc2787d14 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:ebe6a565-4285-463d-98bc-4260897d35b5 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:fc5308f9-bf55-41c2-874a-e9037dc72198 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:66b5831e-4c21-4558-ac2a-4d623c1b35f8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:289fb9fd-2b65-4613-a1bd-f295a53ecd7c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:f9ae1d34-8927-47f0-b633-7eddec68b096 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:58039eb2-0752-49da-8b88-09b7b08693ea phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:32ad13f5-5fd8-4db8-9ae9-a83c1f676f45 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9c4b720c-c560-4405-ad16-a8f46b015fa8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:bd9d1ed9-20c9-4247-9415-7c98fa6dd9e8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7991b9a6-20c4-452f-b4d9-ce94414e1c4f phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:249b1cd6-1642-4b5b-9a95-5eb8cc0cfca4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:dca53a73-b20f-4635-b6ee-61386fa8be54 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1c22026d-b286-4b50-83c8-25840890d4dc phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:85321fb5-7ac4-46bc-8841-a7741a90e082 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ac9f6ca1-6434-4fa8-a50a-215dea6f5a37 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:941996a8-6b95-48b4-81ed-fd53bd399e21 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c3751953-2887-4962-af04-749bd5393dc7 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:26981933 uuid:51794b34-6605-4328-86c4-1591e7766855 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:8beb7ae4-a6bf-44ff-971f-b63e6b8e8a87 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:29889099 uuid:a4c1b5bd-376c-46ba-9c76-485ae4041a8e phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29889099 uuid:84c5a8db-cf9c-420b-81a4-5712184b7739 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29889099 uuid:1d5fea08-a52d-4400-abe9-6a83100adee8 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29889099 uuid:71876034-2ffe-4ada-a7df-04cc2dc57f46 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29889099 uuid:97618583-e0de-4edd-a8ba-5d8d8f34911e phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:29889099 uuid:6880897c-99f0-4a91-965f-c3a938262a1e phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:a2b25b22-f1d6-4025-9260-308ab48502f5 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:39b3a2ab-9550-4fcd-ab82-328a7eae03dc phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:22ee9100-ead8-45f1-bfa2-b0508bde303d phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:92254627-8162-42b3-80fd-8d7b5253b250 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:fb6d9995-a4ed-437b-809f-477c25924376 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:7bef8bc5-f4a5-47e2-96b7-bb36b7b4f3c6 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:c2ff01ac-83a0-47eb-b63c-e9e145124cce phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:dc456234-7954-4750-a645-652d660ed45a phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ab7f5c71-9d1c-4913-becc-f450627387d5 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a5fb1869-413b-4343-8543-9cbe4471b85c phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:f94a646f-a77a-4fe0-a220-28150d789b9d phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:e4ba3236-078b-431c-87f2-56475cd7a7a2 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:32a9b3bd-ee39-41e0-b93e-8aac1983180e phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d83734e8-c1ab-4bd4-867d-05e90b79f7c5 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:3c604933-ff5c-4c83-9024-a66a2e9a11f1 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:29889099 uuid:cf119d97-a164-4f83-9995-10f54a327a71 phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:639c3003-2ff0-4a84-8438-7714878b5c43 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:26981933 uuid:0d6a61bd-6ee7-4175-a14b-7955cc9559ed phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e905905e-dd41-44ef-a4f0-b5d90f2a3611 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:559f87f1-c3f0-43e2-857b-4eba25533491 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:517e2fd7-eab2-4f88-8c5e-e230b58557dc phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:059c22d7-1c82-4d39-bca6-ed8735fc42a2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:f8e79311-a29d-44b7-ba53-01b704515165 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:eb9e3cac-33e6-4b9d-8ef0-45279f65744a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2fc5c581-b38b-4329-9899-4e64ff0b0eae phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8f1d7733-cee0-40e5-a48d-a8f139f67e3c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ee0b2a03-e918-479f-9164-540a6391e1b5 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d6f45084-add9-4159-ba0d-6d44dc25366d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8e468387-331d-483c-8a06-252fb8d593b4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9d0fa276-f104-4c7f-bc46-f93a707e01f8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:65215b25-9205-4cc4-9c6f-14f277be6b65 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6561aa19-9495-4f2f-a0f2-00f1ec348ee3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:090b5ae5-ffd9-4075-9f5c-f0b588254174 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ff41e93f-19c5-4d3c-b246-1b6f8837d866 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f079fe77-969c-439a-b371-e60a500fc2ae phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1eaab2be-cf5b-4cc8-8a04-a2e9b906786d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:26981933 uuid:38a81bee-ea47-4cd4-a833-d30e96fe9c5d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:a3a6d050-df8b-480b-9b17-15b6792256ec phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:26981933 uuid:da525a32-6cdf-4a3e-b869-d1e3c1cda9d0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P62Y infores:phenopacket-store PMID:26981933 uuid:3349ecd7-5d86-444d-963a-abb02b2f36f4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3a63de50-f3ee-4ec7-a4cd-bcff4f13b4be phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:c3f7a702-7686-41cb-aacc-947559111ee1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:4d01667a-f39a-42bc-84da-500fee2658aa phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3b67b3a4-1f89-4749-8255-cfdcd3a65631 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:d24b6c0b-be47-4338-ac0a-d946aaed6abd phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:241b25f2-5610-4fdb-a3b6-3d1f2f05a773 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e6b5f7de-a2e2-4517-a84b-f13f9f0407a3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a163842d-fbfd-47f1-9521-3f0868348836 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:692aa211-02a3-4b6e-99be-1dd95a28cbe6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:17575e8b-a1db-42b5-98e1-d9eab594c8ee phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1e41419e-510e-4e2b-a00e-5417dac82aa9 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:3f585649-4ab0-4e01-a461-d89a95d84ab1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4d156707-42aa-449a-909a-1a18c3dc9174 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2a9da4f1-0f57-48a6-a31c-d6aab567afea phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:285958f3-827f-4335-9255-f732fd796b26 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9b93cd2f-fbec-41c9-9f90-541a7e52ce3c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e8cba3f5-f5ad-480b-9ac4-50cb7c62c3f3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e8ea4788-df79-4a67-869f-d9ea739b2a61 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d8988a4a-5364-4a77-8df6-bfd3f78be847 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P57Y infores:phenopacket-store PMID:26981933 uuid:4c990466-60a3-423e-9292-dfd1087b5aed phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:ecf87917-4f40-465a-af82-9124bee4315d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:1c9dc5f2-dcbe-4b09-a1d6-ede82c6a9d53 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2785b7b5-da0c-4cb9-bd64-3dcf4b0170eb phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:867e760e-8efe-4c1c-b4ef-eab5cc56e6a0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f95b912c-7e29-4036-80bd-4fa6620a657a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:60ce1916-88b7-4ee9-81b6-5dcb9987a774 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5c7fd64e-59c6-4bb9-aa9f-fbd6ec90517e phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5700e554-6e0f-4594-9101-32869cda14dd phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:3a21bbb3-ab32-498e-a18f-e5dd912ea7b8 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8c27eb33-7254-42c0-8031-fe6a2564da36 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e72482e2-0266-4737-b84e-4bb148b0925e phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:45043f23-85d3-48c8-b643-dc0af323c652 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d25c6a6e-c4f2-40c5-b8e0-a8a0270815fb phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:85fcfbbc-cb02-463a-a61b-e49ec28e2954 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d272d9c4-985c-4de3-af1f-d336715b08e7 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:525554ed-db7f-4d11-93a4-1610e48d1bb7 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2dc66f6c-24e5-44c1-b361-5488e1b3356b phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:26981933 uuid:2a1db4e6-fefc-4124-9d77-39df8899ff76 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:8222a93d-26a9-4840-8d33-de665d0cec7e phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:35566429 uuid:241e0146-a59c-4c90-b0a7-a78b48c62360 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:35566429 uuid:d46ea62e-2c2a-4555-b0e9-645236050afd phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:35566429 uuid:a5a9ee1d-c665-4d96-8534-9e4090240981 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:35566429 uuid:d74b266d-6444-4f42-8000-454fe54fed2e phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:35566429 uuid:7ecd4d7e-b5a1-46a8-9683-9f51b1076042 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35566429 uuid:d1942c98-8887-4b35-bde3-2bc42aaf4c64 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0032126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35566429 uuid:d5244dd7-bd86-4e53-9b64-c2a61bdf0ed3 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35566429 uuid:32e59434-cb7a-46e7-8fbd-7ffd0fbd6176 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35566429 uuid:418333ec-27ad-4021-bd60-4d07f76ce2e7 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:f8bb2e72-484a-4e7f-a523-91a39316fdf8 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:f98f464c-2b05-4c97-a335-bfeed1231f28 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:066f9c13-43b0-48b2-9c5b-e72f287cf0af phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:eec6fb0d-59cc-480f-b03d-3ce48039160d phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:079b4dce-4b66-468b-910d-f8cac103061a phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:be635cb4-5df2-437f-9a60-7a9a570ba928 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:beaadecc-43c4-425d-9632-db7b2342c22d phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:4c1792ae-4337-42b5-9708-a97b01e4b7da phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:8d59154d-fc6b-4945-b90d-84eb6208a365 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:14f31a3f-22bd-41c4-99c8-117d62bf883e phenopacket.store:IKZF1.PMID_35566429_case biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35566429 uuid:3ec3c726-87f9-42bb-9028-0159644a7201 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:35566429 uuid:990a3f8c-b961-46b3-b188-5a817a3123b5 phenopacket.store:IKZF1.PMID_35566429_case biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35566429 uuid:55f1f932-6897-4d26-8f70-b24307f7dfc1 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:26981933 uuid:97e0c08d-b64e-4e32-8ab8-8eb57ca9979c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:09c80547-bf53-4be9-8412-c08b61eb582c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:687d220b-6e6f-4934-bab4-84b830ce7423 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a8537682-4d70-4728-993c-62f4eba07b88 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:23169807-3c08-4eb7-93b1-1c767c98543c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e8fdadbd-ab20-4786-8a13-4c2312fb7ad2 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5ea9780b-4a66-4f9d-91c9-1208e70a6de2 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fd588cbd-191a-4d5f-ba95-80716a5df535 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9e5bd219-a40a-45f5-8fb0-88b041b94aab phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:38ade61e-31cd-42b7-97e0-b588cafc4f77 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:be84130e-ecc9-42d4-8ae2-d1b634fafc27 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:bca9e59e-a902-4504-b242-cc501cded4bc phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:55415df1-a164-4907-8cad-3902d3063f7d phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8bff8dc1-3ef4-49b3-934c-1d21b3a2568c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:26981933 uuid:4510a596-6f44-4d68-a075-a65a5848f00b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:9eadd108-2809-4480-b9b3-766a47d55587 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26981933 uuid:d3adee9a-e8c8-41b4-862c-5fbdde4c6e81 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:26981933 uuid:6e5c3eff-fec0-469c-ac7c-92f2f9726c69 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:26981933 uuid:52c312eb-5d93-4a6f-b420-647c9e59945b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:16acde39-0687-4ccc-b930-b5ef11f66a59 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:4c33aa49-c69b-464d-9464-eebbe04a8094 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b22ce944-da30-44b6-95d9-acf89628a998 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8df3c063-8ec8-42dd-8fbb-e4052f1fffc7 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b1493e86-eb91-46ce-b1c4-5813e25b8588 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7016c4fb-4d86-44a2-8762-ca1f5a81ac8a phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d6f47cfc-91de-4e11-92d0-3244ae974bc8 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:14d800de-ff95-4aad-97e4-ec85352a5128 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e5cf3883-023e-49aa-9304-f3a453e9ce59 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:128477e5-964b-4357-b190-b64f5e027b8e phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:29e2ab42-9b4f-457d-9f1a-f3e642de27b9 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:dff7ec11-eddb-4b1e-ad50-672ed553ec0b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b187f298-40ae-4fc7-9c76-ee44ccbf888b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6882b77f-29d1-4d64-8466-007881fb034b phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9d298ab5-a50d-472a-8521-ba6466a48346 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:95e96458-4117-4dd3-aa88-0ae3b66d8e27 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d9e189d3-68e9-4937-8680-92dca67d42c2 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e9fb28eb-648c-4036-b264-ecce4120462d phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2019dd1e-9bb2-4b9e-84cd-2c8d873886c4 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:26981933 uuid:ffe4d1ec-0740-4c85-b41a-02094b9efda6 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:d00c639a-a809-4392-a95e-fe0151ee5f58 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:3edf6c48-0556-4741-919d-5517d87f1c77 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:7c2f0c7f-5f85-4f7b-a2b2-11d9d6a82868 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:98931d7a-3979-438c-9a79-83678307ca40 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:3807f7f7-69b6-45af-a471-25c6be40a21f phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:c9dc15d1-869c-4025-871b-ce25e85ca296 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:861be5d1-ff6e-4797-96ba-1e22f872ec47 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30965037 uuid:8991c6d7-b883-4f22-a2ee-f5f88c60ceb2 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:39bbc683-5526-498a-ba3c-74c1e901958c phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30965037 uuid:38a9bba1-968b-45d6-af3d-ddd583403b4c phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:30965037 uuid:5e1d2a21-4c45-4364-9a9b-5987f0453a52 phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30965037 uuid:8a5e1119-5d0b-48cb-a305-e9ceae8a20a9 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P75Y infores:phenopacket-store PMID:31069201 uuid:2539ff1d-b07f-430e-9aa2-9aa83a71529e phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P75Y infores:phenopacket-store PMID:31069201 uuid:3bef7fe6-0b84-4a1c-9b91-f748d069eca5 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P75Y infores:phenopacket-store PMID:31069201 uuid:e0ed9d34-9a6a-4a5c-bdc2-e85617c5624f phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31069201 uuid:d5644662-5cb8-4e7a-b491-fed492294f0a phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:5953de38-7de9-4ca4-bb0e-33851d46366a phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:f259fcc8-d896-4b6e-8405-1d23ff9c610a phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:46850204-46cb-456e-9dc6-1f25a667b0ae phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:2b038424-9f9f-4daa-9086-7258a92f3ffd phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:1711763e-c95a-430d-95d0-40d4c701b293 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:d4bf4ca8-cd06-44c8-91b8-5b81a3d2b98a phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:bd09527b-10ff-44bb-9a40-b79f7bbab41f phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:c2980df6-7097-4814-bf84-240d00d4509c phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:bd554432-34cf-4209-b0a3-5bd9e4792e89 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:1980c875-febb-44ea-ba87-4cd50a3c80bd phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:cc12a736-a9a4-4fa6-b01c-a4ebe26892f6 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:0cbe4b02-e035-470e-9325-d6f1e6e10fa5 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:011bf21c-017e-43fe-a75f-089504283a66 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:01d557af-351f-4b48-936b-bfb2375142a8 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:15cdee0c-1d20-41ec-9703-eb340ba1081c phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:2d16a350-0724-4012-b748-ce15c3e0b5d8 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:d94408ff-f97d-4615-9bf9-0dd3602acbc7 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:c1d2a640-3da7-4a1d-9b83-b777491291e2 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:29f90b85-2683-404d-8be0-2b8fdf17d497 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:fe02a119-e276-45ad-aeca-b6efee25d334 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:5266e865-9924-4fa5-b9ef-02efa9eb99f6 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:94032b16-490a-4721-bfd3-892c4b6dd224 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:1f22086f-bca7-47be-92b9-da8e806e9139 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P75Y infores:phenopacket-store PMID:31069201 uuid:cd040923-a9d2-48cc-b3f0-d94877af879f phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31069201 uuid:22b7b739-c594-4135-b71f-caf9fe2311fc phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31089937 uuid:a0acc0ee-ca45-4f70-9fc0-d18215f845fb phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0005421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31089937 uuid:780d7f25-e284-4b36-bbe5-14db15dd1106 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0045042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31089937 uuid:f921cb6a-b82b-4135-8e99-99be24c3ae91 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:8e607348-4415-4671-b585-291a7d9ce973 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:f3d82e9e-43b3-4996-849c-ef423adab1d4 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:b76d8810-b05c-465b-ab85-94367cf782f3 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:4b6c4054-8b42-4792-abfc-b8c695d8b6d3 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:6168c5f3-87c3-4b6b-a2dc-8ece6d56974a phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:a5e54b32-1c8e-4258-89c4-9bf68bb50801 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:09c7e7f1-dcf7-4d0f-acd7-8e232c11e793 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:fe18b997-8a71-49c5-af9d-1b42ff9d0981 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:5d9e6613-ef88-4cbd-b008-3381f98621f6 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0020136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:71b5104d-cba3-404c-8a59-6f053f59d45e phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:43e4bdbd-c5a3-4168-976b-68ae8b8d10c0 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:5e3eded7-416d-4731-b1cd-645c7660b8e7 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:4216e11d-e3e2-4d37-a1af-8a58d3504f95 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:526a0ee3-feed-4176-9304-4efc25f162ab phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:6d17f561-db65-4713-803a-ba5211ec5378 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:b39a89e4-236b-4b07-b3c2-634d05ebe596 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:e2b2da58-5b28-4c32-b7ed-6fc2fe8db0d1 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:c05b1467-6d28-4e2a-b447-74cd50889263 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:2bd014a2-1c54-44f0-88e2-766c95daff11 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:ff21a109-dc17-4e43-a975-406321fa7ec4 phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:31089937 uuid:279cf867-0f4d-4999-bdac-c9653ac05ace phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31089937 uuid:dd6e46d4-6a27-4591-ba3d-43975598106e phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:d015d930-a18c-40b9-9b90-a8fe7c4e089e phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:a7d9a4b9-8aea-4537-98e0-b9f2fd4d131e phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:5642a12d-e50e-4f46-8b90-6fd484d61b9e phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:935cf6d4-fb4e-4148-8fba-d10dd6c489d6 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:1ee9b16a-48bf-420c-95df-c3b42493fee8 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:2064d211-5c7f-47d0-a8b2-2949f9e05265 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9bffd068-4bb1-477f-a1d4-efca9ae629b3 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:6026b151-8ad9-4903-88a6-817090f8bc2b phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a8acc32b-80d6-40b7-97e1-454dc16a1f6e phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4e24dce5-4c8c-4be1-882a-5e602afaa992 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:dec01001-a6c1-4c38-bb9e-680537a3be9b phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:06f89f7c-4db7-4ff0-9e23-c7c851d2b15f phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a3ef3ef7-9424-4f33-a37d-4b7e2cbb085c phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:82c2ee89-c7f5-4b0c-847a-33e3ce176d06 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:aca4bf25-500b-49c2-818d-2fbf390c6c51 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e315ba8f-1f3c-4ee1-97ae-0256566fdc31 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:34f4d58f-40c6-418d-b631-d8ed8e330ffa phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:b86c26dc-cbd7-4379-9ca7-aa26f5a1a2aa phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:aa145096-b8cf-4339-9929-7232c31133d7 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:2abf4388-9aad-4294-b28b-b14607ca9cc2 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:31057532 uuid:dc74794d-83e3-4ebe-b5cc-fe8ef7acfc56 phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:77d0feff-dadd-4eb9-92a3-239b486c7fe6 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:ea425e5c-0e89-4364-ac82-c90a040dc31b phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:cbb10024-2760-4578-bed7-2dd04e0073a6 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:2866fb48-7874-4189-b3f3-d1f2aa2735d5 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:cbfe46dd-7e19-42c7-a841-104cdb875bf6 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P8D infores:phenopacket-store PMID:31057532 uuid:af3188f0-f3c0-4f10-8d12-b4d62393ba96 phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:91d02f8f-6bd1-47ac-a736-befb78ae63ba phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29889099 uuid:a0fecbed-fdf4-4e28-8d55-2b93603c9320 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29889099 uuid:f0181e22-fdfd-4fa3-8b52-c1ebbe2a71eb phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29889099 uuid:b6b1e6e3-f1a4-481d-a315-f86527d266ca phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29889099 uuid:f526cd07-0fcd-4032-972b-732258859d23 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29889099 uuid:cfc98934-a91e-4736-bcf9-646e77100c68 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:1d1a03ce-a8f3-4d9e-a098-76a2ac1d2033 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:5cc2735e-7d4c-45ed-90ac-8dc43d540af8 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:b350568b-5eff-4d2e-b132-680fb98ff9db phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:22fdbddf-2949-44ca-8a93-f7c4cf1b0951 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:f4aa38a3-f13e-40c8-a42a-f35e285db7df phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:f38ee194-78b1-48fb-99c1-6764821a0c10 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:55742f71-98d5-428a-a4f8-4c82e93052a7 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:1f5b5e5a-1724-48ca-b352-f93f720532a1 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:34198e2f-2bb7-4f06-9487-dcbe6c0ee736 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:5a795149-31f0-46cf-be9b-c98ee469857f phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:708d972f-aee3-44fb-8123-244751c66577 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a9c4b70a-5528-4f54-ba63-532375a86831 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d7cf07ed-bb0d-46d1-a239-fe9dd9d3153f phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:bbc76249-01ce-4ff0-8845-c8dd0afbb8c5 phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:3ceb0e06-cb8d-4a4b-9803-cbc4b8374f8a phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d6d630cd-82d3-4a02-ba0c-cf2205ce7b2f phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:29889099 uuid:cbb0b564-60dc-477e-bc43-af9f6ac1015d phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:2913e6a9-007d-40a7-ab80-d5b33f24617b phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:bcea91e6-1f39-423b-b1ed-58467e45991a phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:46a8c597-5a19-44ad-b896-e79dfa7afa6f phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:00fc7b61-e3ae-42dd-86cc-96d4e2e15d01 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:9426446f-566b-4b0e-820f-c5354eedc03d phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:e5be527c-70d0-471b-b33c-3c1ec8f167db phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:d1abf176-0a7a-43de-889f-fd56dbaec710 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:89654c56-0717-41d3-8b89-6e7ccc0401bd phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8b65c4e6-087b-4f43-bde6-2a94095ef35a phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a698489a-03fc-4a4f-8403-9d8f49145f94 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:f4d57a24-ed24-4f80-b25b-f33197ff4ea8 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:3bf69437-395d-44ef-9316-c3098c50c835 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:557dd792-8871-4a8e-a741-0a3fb2a5d899 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4b85e16f-7ee6-4dc3-9eff-b91075fbbf73 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:55db94f0-e595-4fb5-9867-8a854b54e16b phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1c21e010-56ae-40f3-83e2-1581a3bdaaf3 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:4ada9e31-bba3-4a4d-a3d9-9000742fd7c5 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:112dfa2b-40c0-47ab-846d-285b87e2d09d phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8da89a78-889e-4590-9ab8-90b679cbf79e phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e57edb45-6ada-4c62-a6a8-30ddf0786a93 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:7a8c46cd-8955-4eea-b05f-7b34ff67c03e phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:31057532 uuid:3160558c-3f64-437b-80ec-cdb31c1eb152 phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:0d660413-e6f5-4645-9079-fba300db1152 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33097959 uuid:acd22fec-cf7f-46a1-9491-6769ba5cead4 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33097959 uuid:56ba83ad-fc29-4a1d-a94d-5c0a81721995 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33097959 uuid:dec4455d-cf17-4f25-9419-df94ca2042c8 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33097959 uuid:5971e366-9ff2-492b-9c48-7067e1203952 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33097959 uuid:9a630ad3-18ec-4e86-b751-83366e0b1fbb phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0031190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33097959 uuid:0e95c93a-7f55-4736-9bf0-d8e726dcc6ac phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:da453cef-a3a5-49d3-87a0-add729e06bc5 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:79915146-f01f-4301-8c83-6516908147ee phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:91fe707c-a70c-4005-9241-642914cafbae phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:20f0a650-55ef-4465-a0de-91ff232f567b phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:5f104f7b-17df-4efe-8e2e-254cb190e5e9 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:f585130d-407b-4eda-9fa3-069fb24c01a7 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:b7bfaad4-b7ae-4831-a96b-d3a8baac550e phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:73a5df71-900a-4156-a856-b076982b3d2e phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:1d5c7635-f29a-4ecd-b527-18122fcdb96f phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:0355b205-4cb4-4389-88a7-63445bdaa241 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:134a0831-874d-4e82-83e3-965b23b25850 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:75f4abb5-74bb-4c06-8943-fed9fd3d9c08 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:ce62d04e-2bf5-4385-bcf7-87e3bee42856 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:42d588f0-da75-48b8-8226-5a6c8620bb58 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:34fd791b-940a-4ad9-ad6a-f1c82a352187 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:37b51866-34f2-491a-96ea-cb273c012d9b phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:ec755562-a5ff-45be-8cfa-59827b022dbc phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0032126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:a1b8a87c-50e1-475d-8830-2ad29f87284d phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:3f071170-4c64-42ff-9d29-f242c41f104e phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:6082295a-0915-4931-9e82-4fabf5fcb1ee phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:bc4e3ccd-af05-4fa8-a17b-e2832bebf7f2 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0005421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:6c03e193-2d97-4712-88a4-b734fcb85b7e phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_phenotype HP:0045042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33097959 uuid:15e69157-74cb-47cf-bdc4-5518f758e018 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:33097959 uuid:fba70930-413c-486f-868f-a78afc7f5dd6 phenopacket.store:IKZF1.PMID_33097959_boy biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33097959 uuid:06e48827-d379-48f3-82f5-0109485d0e6d phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:da3c71b1-2045-4baf-9222-3aa51689ce8a phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:41e0019f-8c5d-41d1-b252-755eabc3ac8b phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:cc8e1081-f8bc-4f56-a88e-32987f2457bd phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:462a9975-0b81-4b51-af18-4de859b4cafe phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:51119175-d3df-48aa-b550-04064f9cc955 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:8012f9cb-fde9-4fd1-ba2d-f117075f7971 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:90e6d265-b3cd-4947-876e-4dabcf70d15e phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:62564ea2-d18e-4381-9579-1147c38acade phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0045042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:8824fa7e-0fa1-4110-8749-173b2e38cf28 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:727f79a4-fcae-482c-812d-42c9a486e7a6 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:01e6c492-86a7-49fd-a218-552a37d24f42 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:e566a50e-8ce7-4251-93fe-653584b6fba1 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:60b9b0f2-a8c1-49ff-9ec7-8b1f3bb10042 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:9c01268a-fcce-48dc-b13b-6a1525f002ec phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:7999ca2c-7a44-4f6a-bfbd-9b9d0821ee9d phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:1f40266e-04f6-4ba0-9bbd-3b1275b869cd phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:2e85a1b2-6ed7-4dea-b21f-df5663eb2c44 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0020136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:331e16a7-8c45-4312-85fc-ef353064c180 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:ab8b8fc8-efde-4c4f-8f7d-a199b8a71f10 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_phenotype HP:0005421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:2b1083f1-5e88-43eb-8f79-d39f675464d3 phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31089937 uuid:d06497ac-bd9c-45e2-a466-c48d32eba05a phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31089937 uuid:33d5d3ed-5787-4711-baa9-dd8786875eac phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:27939403 uuid:92c1bc36-af52-449f-a3b2-98e041149f38 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:27939403 uuid:e4e11604-4b7e-4a0e-bec0-c27061a66c38 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:27939403 uuid:3975c615-a44a-4269-aff5-6de804c4c327 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:69a1bed1-7b0b-4792-ad92-24cc4da52257 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:db55eccf-10b9-4a67-8ce5-c3aae4aec3c9 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:b5ce0d9e-0667-4f1f-a6eb-e73826abbd42 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:b1a4109a-268f-4e77-a1cb-ffbcc6588855 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:1a8ad049-8e3f-48eb-bcf4-3a430138f5d5 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:bf1d8608-1fc1-4bb7-99e7-2379c3827fa6 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:796e0b80-8a55-49e7-8d0b-3cec053cf82b phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:5e103885-3d7d-4bf1-be54-2a0cf4a7aa86 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:bc09ef57-1978-4f7a-b27e-d41644ba1078 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:a7480373-f4be-4ae5-b903-6cc96ed90758 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:43323aeb-4882-43d4-bf39-bff186238207 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:cce2db4d-95cc-454f-9d5b-11abd8740311 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ce001c34-3809-4b00-8d46-7ad6fa62a588 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:8ad3a87a-fdd3-426e-8dcb-ddebf84ac7af phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:8d1a9f20-c90e-48df-8826-7f32e33db597 phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:27939403 uuid:87ebf027-0e26-425c-b143-51c3383f913d phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:4868f3b8-7143-4206-91ed-808155176238 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:26981933 uuid:1fc70b1b-0e68-4329-8bdc-895e18e65d2c phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:26981933 uuid:4298c17b-b652-4d0a-aa47-1506fc43317b phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:26981933 uuid:d2938695-9b6d-4ff8-b6d0-78be5e812d22 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:1bcdc4df-4b5c-44a7-aac2-3b1da3283e24 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:c9b6c62a-e5a9-4870-86c8-f46e6693dfad phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2963d8e7-2a46-4c83-bedb-7def2ee81378 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ef6ba7ba-09d9-4761-a871-50e99537acc5 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b91f1144-e054-4ee2-8cde-3f693e0d38ec phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:82cf7664-60a2-47b5-8dda-70784d585186 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ae581224-5c66-495c-8616-9119cd0eab09 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f32bd5ee-2e17-45de-9a7d-aa086790e651 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:abd257c4-2296-4bc3-ae95-9287a9c01951 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d1af0930-1df5-4d03-80a0-316bb591f7a2 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:88762706-41c5-4942-9dfa-3403c52f0575 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a4e64cd7-8515-420d-be36-fa13399b3f47 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a09fec65-d02e-4c97-9894-cc2cf922ef4c phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0d32efb9-829b-403a-b24e-a2f4eaedb0b9 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:65536032-998f-4e9e-88c3-4421998fe747 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:26981933 uuid:5aaa8e04-55a6-480a-9ef8-c9aaa93d2ae8 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:591d6eee-a91a-41a7-af26-bb95803ded95 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:086fc37c-2a8f-4e25-860d-f2b4425b21b1 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:b0a994bf-123d-420e-9fa2-0620831f9996 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:b911443c-f312-45dc-a62a-63102d80b85b phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:e8f47e9c-bdc6-4fb8-8269-9177ee600032 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:c8776465-cc19-476e-a91b-ea2ebce3487d phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:41c985c9-2f48-4caa-8c06-f1e01228db86 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:e791b218-3f36-4ae3-b098-9802d1b89ea8 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:5ad95e6b-c490-4da1-8f8b-4e9705168262 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8f677223-5f44-4399-9b4e-0740dc90002c phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:41aee252-4bcc-4f0c-8285-c73bde7598cb phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:16ada6f4-109a-4750-aba7-3a38b4455ee1 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:21b701c3-6ecd-44e3-a693-2dc4b330f2cf phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:d52003e7-474e-4079-b99f-ae98567ca5f4 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:c9b48006-bfdf-4b4e-9af5-693b0bc300e7 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:c66a66cb-ef2f-4975-9743-00cbeb5a843f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:deb0ee7d-5596-43b4-93f8-0694604793f7 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:b512c74e-b2ca-4c3b-98c7-96581b4e399e phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:47a6a07a-bc42-48cf-9955-8faf8467e98c phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:58ced9eb-563c-4a26-bd9f-b88499316716 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:83bd6e0f-d796-4ae3-a7e1-6a5b1a508538 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:31057532 uuid:b782c495-9845-46aa-aeb6-8e96e64d2f57 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:d70dd171-0307-44b6-9b4d-d0b2f08ba477 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:a7e85854-8e9c-4f77-b5c9-e71d9b184fa6 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:f1f78631-6ed2-4a99-bf15-4bde98b898ef phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:26981933 uuid:aaa9ecf1-b1e1-434c-847f-7d99afc07984 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26981933 uuid:fd6ad39c-8522-44b3-9467-a6cdcc1bbab7 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:22a28410-7ba6-4050-874e-ad15d9eedc31 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:be42b34b-cdbe-46e7-8a06-aa94cfabc79d phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:fb194587-256f-4a22-9ea3-811bd5d0dae9 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:0a413b90-e700-45a4-a6ed-d5c101f52582 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1b6fdfae-503c-4023-9e69-cb8753b86283 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7c26d4bb-9236-4f7c-9bc1-95ad340b3373 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:daa457d6-dca5-4c09-87bf-aea18c7a6799 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7be0eba2-43fc-49d2-a21c-94a1f31c2e3b phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7e4267d7-8ed1-4c93-85e7-dbba7b5d51a1 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:95d54a0c-92ba-4d1a-b684-7b28bb842040 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:74264cfd-c3f8-4feb-a375-ba0f85b8d725 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8abc62ca-d0dc-4cb2-a6cc-9d976a13480f phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e05fe54c-54ca-467f-b1a9-50e108461d29 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1af50c14-661c-4092-be17-4c56fcdcde13 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9a1d51b0-dc74-49ec-a307-8442c1e20f45 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5433097f-5b8a-40ca-9c56-af96f5ef9edf phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:26981933 uuid:e6dbd75c-106e-477c-8486-1fa7fddb1359 phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:6d1c0af7-3585-4b66-946a-2ab3de93cebe phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26981933 uuid:cc1f70d2-ae1f-4fe7-b22d-13a8ecf5e526 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:26981933 uuid:5b7473de-50b7-433f-97b4-189d318aa4ac phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:26981933 uuid:d0ef8939-8ef0-4a35-813e-fbab5b558ab5 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:26981933 uuid:6b819a3a-2361-4d5c-8e7e-5965514b3874 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26981933 uuid:fc6efe8f-a1d5-4a72-81fd-861764958d33 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26981933 uuid:c5ac328d-1a2a-4907-8044-a8eba6017286 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2721bb39-fb77-4d32-b1f7-4ae7a3bd6c3f phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:c9dc7d1d-4747-4303-aa30-6fa3c71692bc phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:07c25f70-1df1-4268-918f-f7fc3cebe721 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3bbd73c3-2a2c-4a4e-8fa8-9a4a21f0e49e phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b42930e6-af74-4169-8d90-64e6e2d42d34 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d0a3d580-ebec-4b0d-9181-bd0701919c2a phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:69b68f91-5a86-41b5-80af-2b9299384876 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:34342472-abb4-4e81-b09a-a187a1dd4322 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:44a66f86-6c86-4c70-90b7-35ccf02029af phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:8d15e361-f2d9-489e-83d1-f74f421fc737 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:113bfe51-58e8-4c00-b64b-2cf59b18a44f phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6e2c201e-a304-4967-a673-4c62ea32d8eb phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:23f7a555-c66a-4567-8364-13b27b492ccb phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0a9c3355-1a6f-4525-8eb8-b103bcbdd352 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2782c97e-8a13-4f8a-aa31-4904b88e9e12 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26981933 uuid:14d357e6-5c25-4e21-9813-956cc6cb7691 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:c0b6826d-cc66-4b9d-8907-45d4a99cc605 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:26981933 uuid:b392934c-791d-4e41-980b-5312de96e792 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:26981933 uuid:5d98f677-f89d-42b8-b302-f0dc6b9822cf phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:0b337fa4-7fd0-4e72-867e-5ed806131c24 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2381f650-d395-4d8d-a8e7-dfb93565adc6 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e28bf246-2b57-4e6c-8da1-42b3dcadf272 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3797fed2-4f89-4daa-9efa-9667448f7337 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:96ac00ab-e7de-487b-a70f-9c6ad2c57d38 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a5a654ee-f756-4b8b-b59f-6e9663688952 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2018e153-1538-4ad2-9b09-699b3fd5c926 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:870a1b3b-956d-4399-9fd9-c69b947c08e6 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a7a8b09c-4d57-4f47-a81d-c47795133334 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:eab1e4cd-23e4-49e7-a38b-9e0d4a496571 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:5d474b51-1adc-41cf-be25-ebbe2f471052 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:253571bc-e087-4fd6-a1d9-c349d9d51779 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:674129cb-ae69-448f-82df-a8250a7b9b73 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:78286b84-b1b6-4077-a15b-1d0081d96fd1 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:37c2db2d-d43b-4b00-b86f-472280712aaf phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4cd82d64-a9ae-4435-b899-381396b9b947 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:536b7fc3-2291-4eb1-a45b-f321ca71a2c5 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26981933 uuid:af833264-f881-4cf3-9b70-830d448b6e98 phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:36921293-58ea-4e50-9280-3c0ff9d43598 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:ca4b4703-2163-4727-855f-4677b72e29e0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2753a4a2-894b-41ad-a6d8-1e9a14aeea2d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b88f5290-f46a-44e8-b849-bd1537d6665e phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0727f35f-0a8d-46ee-88dd-e58efa3d52b0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:00c993d7-31cc-4587-b9e4-6e0e32056dcc phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0df9f353-594b-4f38-ac19-e9a42bca0727 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:018fa3c2-293a-4055-ae22-046667615e27 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fe12cd58-983f-4d9a-bdd5-95dc1b59fcbe phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:63727a6d-c68c-4f26-b3d2-9aaa530c6528 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:44a7b7f2-531b-4a9a-aae7-689d94413dd0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:27902ddd-b8bf-4b4c-81d9-e27039c0069c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6d9154bc-7839-4feb-8482-c9ed36ff7d32 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:497daca0-276f-4da3-aec1-8fcc913990c0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:667d93f0-1c2b-4a6d-b230-fd890e60a5ac phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0ba354da-7821-419c-a437-2495c9b8f463 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:713c143f-70be-481a-9eba-d459254ab59c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:26981933 uuid:0008ac7c-a07f-491a-a902-8f352e2befe2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:c0d42a13-4069-4617-8f37-eb72309f7404 phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37771582 uuid:56b3acf7-a7c4-4219-974a-57dde5d3adcd phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37771582 uuid:3f11d450-3a8e-42b1-bd53-033e1f4b64d2 phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37771582 uuid:052cc849-6d54-4dc9-b8d4-3709eb29a7c0 phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37771582 uuid:6ecf134e-a0a3-4686-ad12-4b2f355672ff phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37771582 uuid:2f35d3f4-7d2c-4ae2-be55-88fb4875332a phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37771582 uuid:fc3e06d7-52dc-459e-a6b5-cec25123984e phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37771582 uuid:2bb951d6-f540-49d8-8538-de6c385eaeda phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37771582 uuid:3c40ec7a-ab8e-4259-921d-8ac09d67a5f5 phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37771582 uuid:91539fa3-450c-41d5-b33e-397c2cc364d7 phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37771582 uuid:be0d16cb-fe79-40cb-9bcc-1e41ec2d0945 phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37771582 uuid:d9c9920e-1c96-43c2-aed0-4d47e896507e phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:27939403 uuid:9a68c91b-c02c-4c5f-aa31-c21abb150cb5 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27939403 uuid:f2693e75-ff0a-46f3-aebc-1d9025ae0dd5 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27939403 uuid:82e7866f-a3f4-46be-b7a1-d84652f7809e phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:0c0d8d5b-a5f6-4d3e-82a2-66a98168f887 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:6c76b77f-15bb-4f1a-86c8-c652151c2fd3 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:c5521de5-7777-4238-8463-695a2ae8e432 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:5becf23c-be40-435d-8616-9de24f61b8e9 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:3482e51e-1174-4723-b1ce-2ecc287f723f phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:969916f2-3292-4b6b-9d7f-7cf39faca5fa phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ae2a019b-3ea5-412f-abe1-0a4aa5b0e88f phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d15abde5-cfa3-4cb4-b8e2-da849876bdc0 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:d7cc956a-08ad-4132-8a25-e0f79fcafd8f phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:ad11ba08-81d0-4167-ae26-2195bdf311e0 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:358283c3-cb19-45d8-91ed-2cd21e3d06d3 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:82c490f4-79a1-422a-a305-47ad6579fabc phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:f83cfe72-d8c6-4ad8-9420-87ea6f121ad1 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:2c8d3171-ea22-4ae8-a454-458bb8dd034b phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27939403 uuid:25d80a16-4a40-4d56-aaea-9142e51e5ef2 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:27939403 uuid:265f502e-0423-40c4-8e3a-73995843de15 phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27939403 uuid:39b6a7d8-2341-490a-82dd-e83c78e1876b phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:29889099 uuid:9b0e5f2a-94df-42ca-b4bf-9f1d985d01d9 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:18624091-3a31-411d-a3fe-3c4bb68475ef phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:cd40b046-196b-4efc-bbbc-4608c64152c9 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:7f5e3ec2-cd2e-448b-a721-1068bd95c66a phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29889099 uuid:2a93ea63-03ab-42c1-8bec-1dd9e77bd485 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:cce353a5-e833-4001-b2d2-601a8b037669 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:75dd1e0a-2c42-4c65-9192-3d1e7bfb8c4f phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:8c0990bb-8f51-475d-8c17-fe106f774f4e phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:fea01e2f-e637-4431-9d94-78a181452500 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:2e1f8348-4831-4ee5-8125-2e9087ce55d5 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:df6fe318-6779-4368-a207-2a4dd361aa4d phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:5500c80e-b21a-4444-8ac1-8f1509a58f53 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:646bbf37-7fa8-44a8-bd3b-726f0cf55a4c phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:655184fc-3780-40c2-88f9-54b3f03d49f6 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a1ef8d12-99f6-41e1-a657-a020b173552e phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:f0a0778a-cd84-4832-8b65-f38992b06d4e phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:f5c5e48b-1557-412c-8a10-82887c2e18b6 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:67f83444-7213-417d-8c91-446a0860a9eb phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:ebd0127e-7f77-4fa9-aa04-246a9c9b66c7 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:6a22f2aa-4d6f-4e6e-85fd-92286ffaece5 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:13ba23fa-f067-4a45-a634-838e2cfc05a8 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:29889099 uuid:a314a874-8b73-48ec-b7ed-392b4294cf00 phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:9c75af5c-33eb-40d0-9531-efb038bca75f phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:2fe7fff4-5b72-490b-a980-7080190d2acf phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:69d52489-7804-4f77-ac37-9e3ae8a3a838 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:ac2a19ec-d4c9-439e-a4cd-ae6bba20a490 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:0cd780aa-98b3-4455-a974-48b51f99d0b4 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:03d325ec-bb6b-45e1-9e89-43bccd83351d phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:86dfa62e-1609-4314-85d6-5c9d2b0bfd3b phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e9900cf5-9124-4d78-b982-dfd330cbf653 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:bcf10331-926e-4d2b-9395-de796067cb53 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8ad145a1-66d6-40cc-b4a3-0b4dbb4933b4 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8f69c5f3-e916-46ef-9d3e-6da3b12a17ff phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:9454f35b-b2dd-4a4e-8a9f-9da8af15fb02 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:a526b849-2aa8-4d83-b8fd-790c9406ef88 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:f290f362-6acc-4391-a385-67f4f308b358 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:86ab5821-2543-4ab0-a6b1-ac67048d149d phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8086ea27-b3ff-4e6c-bc33-657df7dd309f phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:31057532 uuid:968e1ac7-a378-462d-9d49-f65b55f16887 phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:a823eaa5-8d35-415c-9fb9-182b45b18a74 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26981933 uuid:034c24a1-a72c-4144-bcdb-4e874e119db8 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:26981933 uuid:60e1e4d7-68bd-45ad-b9f6-ff1d8a6209e8 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:2f30dc9a-9ffa-4c17-b85b-7ca75d2b5f50 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:28548f87-6529-4e02-81a8-6ebe74c4709f phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:4d4dc20a-3511-4654-a6dc-446d6a8a0a22 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:940cad06-3842-42a6-844b-0937391e5b01 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:91d66f12-2d5b-44e4-95ef-1260be5916d8 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b04d9446-a14e-4f6b-92f6-0c5f8dfc290a phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cf6c789d-5d00-45de-8c51-9750677e09e0 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:80d6a605-f65e-4d4b-aa42-8a62214f0769 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:50dc6997-792e-47f8-b682-97aa8712ce99 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2053d36a-8505-4d01-b46e-e8e72e951630 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f5cc19d5-2fd8-4f4f-83f4-e4d8ad30c661 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:301acba7-6a06-49a2-8443-84bd79bbf1ba phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:171a8576-9f8e-4bbc-973f-adf76c08e86a phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:325fe195-871b-43e6-b9e6-c0b8abddcd3e phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:32767c47-84ea-4c9c-92e0-64f131a9dd07 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:658f6d15-58f4-4629-b060-4fd6da01a353 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9ce78912-dcb7-416b-818d-1ce3e12d801c phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:26981933 uuid:14a66c70-2c58-454e-800d-bf3abfdf6538 phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:b51af49d-55a1-4792-af08-40d3ede66bc8 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:3c38b8dd-6021-473c-8caa-fa98ac38d501 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:3b3d35ba-6c7f-4312-8c8b-0ff5afe2a929 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:333c5169-b6c9-4ba5-b919-abbbd33f7266 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:7958ccd3-ac9f-4a1e-a667-ec91b223913c phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:6b8870b5-a913-4cc2-8813-c32a5690e50c phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:8d79b4b6-d7df-4488-b584-d99691db9a27 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35479066 uuid:f9f80b0c-230b-49ef-b668-52a08859e8c1 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:35479066 uuid:44b437f9-7fac-4d4f-8100-71f3460aad46 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35479066 uuid:240bfdfa-9091-4ec1-8cf6-673de3430b86 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35479066 uuid:c5bc6909-fd41-4b6f-98e6-cb883a16aedb phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35479066 uuid:bc23d621-258b-4dd7-b9ae-6766f2a4b584 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35479066 uuid:7607dda2-669c-4b2f-8b72-9223ce66c609 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35479066 uuid:4aab6627-ea3f-4c42-8b59-f8437562acf8 phenopacket.store:IKZF1.PMID_35479066_index biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:35479066 uuid:763712f2-d2a3-4911-a90e-5daa4377bd1c phenopacket.store:IKZF1.PMID_35479066_index biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35479066 uuid:8f9d8420-e319-4bc0-b755-affb39b6ec73 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:26981933 uuid:95e7ce82-b41a-4ac5-a2f9-452e29e17874 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:26981933 uuid:26e2a5ef-0742-4f94-84d5-de7780807ded phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3f5370cb-042f-44c0-b948-d5e273e25dde phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:f889de0f-f5a5-4de5-b98d-cd30ff3e1787 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:29e2b348-44aa-4a5f-bdf4-6502f4cc1ea4 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:da1cb821-5761-4f8e-9eb3-70861fa6685f phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:6366f53f-1669-4725-aab6-17fa9c024dee phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:1a72c1bd-0723-4e81-87f1-5ec5b03d1806 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b1daa1f5-60d8-48f4-8282-5191d5941347 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:e794a25b-1f41-4f82-800e-90f28ae5df65 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:65865a1d-177d-4bd2-8293-b75c45c62a14 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:844ad8f2-96a8-4a50-a84f-58448b485375 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0692de85-7f7b-4f5f-a7f3-fdc26d64f367 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e2a60bbc-ac68-4020-b514-700243e3b0ce phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:3347ffa3-7cbf-418d-b666-c05155c5e1d0 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:dd8a4392-e9c4-49e1-ac27-aef120ae3696 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4c113926-f611-4b18-8189-f716d9913e9d phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d2358cf8-8519-41ad-b43f-1bc1b0253359 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0c0d0f80-5513-48c7-a313-7bc3552e208c phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fa5168f8-3255-49dd-bad0-ebfce78ab7fd phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:46be42c4-d9cd-478f-b8ee-b13aaf46d716 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:26981933 uuid:0ceda158-6e9a-4b69-b946-dd3208c999a2 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:eaed3c25-1bdc-425d-9cd6-b82cac4ff87c phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10D infores:phenopacket-store PMID:33855675 uuid:6b4c21da-c344-4e4a-8bee-d91b0d509706 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M7D infores:phenopacket-store PMID:33855675 uuid:4ab4d397-170d-453c-8ad4-e107bc75bda6 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:33855675 uuid:fdb752f2-6ff3-45c9-ac94-7a64f07a73d6 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33855675 uuid:78682538-6690-44e5-a23d-f06cb71888c1 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:5a3ad8e8-f9c3-45e8-8317-c010dd6e0850 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:115d097c-dc30-40aa-a85e-0271ab1662ed phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:2282c606-2ce2-4e3d-81b3-bf78a99f0e26 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:f21cae63-9fdc-4e19-bc5a-6ff399017dd9 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:b6b245ec-dc79-4237-a73e-d46a0a1e2088 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:476d505a-1439-42fc-8d81-d35c8b70fd11 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:cffd743d-3920-4b6f-87aa-ff02a168a53e phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:459c6695-dc7e-403e-be96-33b152d82579 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:76c12319-1b70-49fc-8d89-453e5efc424c phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:4bc384fc-43be-4ff6-8360-6aed1c78af55 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:c06ef16c-6a94-4999-b992-0fc7fb782cc6 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:5b1e9027-9787-4a63-bf02-7107e7ae1f1e phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:41d30cb4-7d39-4ac9-8254-a24850749d6e phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:776b9a2c-ad92-4add-ba80-1a725863111b phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:230d650a-b232-4704-a706-fe6a66fcfeec phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:ce43fb4a-71dd-4c9f-9d18-d127e4d8be83 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:bdec8911-2278-4c52-b4fe-088b7ef0dbd6 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:51c79c71-d1e9-449c-9ad2-614270acf13c phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:6834b8d1-164e-4daa-bdd1-7d6e1bb27807 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33855675 uuid:100aa350-faeb-4a1f-878b-aaa63302c3e9 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33855675 uuid:9ab6cb97-bf17-4d3f-baec-82cb14e8b5d0 phenopacket.store:IKZF1.PMID_33855675_girl biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33855675 uuid:2db5e572-ae22-4427-b482-8355fc3dbb08 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:e911eacb-8ead-48be-9372-cbe4f51793f8 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:eaf914cd-9c6b-482d-853e-a92bff52b3c0 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0020136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:391b091b-ea59-4e76-954d-d64c001801d4 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:d925798b-301f-460e-ae85-95764f01ee12 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:b1cb1387-54ea-4292-a630-081560e9912f phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0005421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:3d156848-a9c0-4669-8991-bd6aea731ff6 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0045042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:31089937 uuid:c11e74fd-c900-4b27-9cc6-259f418ef384 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:1e36a951-4fb1-470a-82b7-5d88ec803fb4 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:ad4fb46d-ef7e-4c2f-85a6-2ec79da253d4 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:443a399d-59aa-43ec-932b-774d7b76b5af phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:ce7a66a6-53a7-47bf-b91f-63d5b743c1d0 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:8e3e1116-6b13-4bf0-8b1b-ff47833850d3 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31089937 uuid:caf40a56-6e1f-472f-b507-bb0b219d39f1 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:9338cf40-6a34-4d8d-a813-d363eb3985cd phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:ce66e420-d65a-4375-a575-66170ef995e3 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:9194d73a-d71b-40ce-88d7-53936087b11f phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:27dff40c-9ba4-4ef5-9cda-ae4b51413e49 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:2f7f748e-77e3-4db6-bb9c-f0b46e65373c phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:004adb9b-1bb4-4c3f-a2df-7b463c814476 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:15b22f69-1990-4862-908b-0934d7d20426 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:86701c6a-d7fe-41b1-a0c8-2a6428b4e108 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31089937 uuid:0bbc0224-a9c5-49cf-b829-d3935d055337 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:31089937 uuid:33a92373-e32d-4038-bc58-12815a45ace3 phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31089937 uuid:9590c45d-43ac-46b6-a529-0e5d0bad9968 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29889099 uuid:1caf34c4-a669-47f1-890e-c22f799087e2 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:29889099 uuid:32c0d0b9-1a83-47e4-a2e5-69ccb0fb956a phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:29889099 uuid:f29a369f-f0e8-4de8-a970-bdb01c649692 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:29889099 uuid:29a53c46-27fc-4faa-9769-33aa210e42b4 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:29889099 uuid:eb9b99cf-4903-4915-a452-920389b3922f phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:c044616b-ae88-4ef8-bcf1-e7c8c41cff40 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:76cf0eb6-1f39-4a4d-a8b5-a3428e49aa4c phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:9dbfa2bc-4197-44b2-9726-785153a2dacd phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29889099 uuid:c18756ee-3fcb-4656-9db1-0c8159bc9015 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d5d95ea8-6c99-4348-b94a-1c0f3be28875 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:c18623ef-f2e9-4508-b25d-fef0d8a378a4 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:cdcff16a-4164-4561-9c2c-a6b6ea169838 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:fcb3374f-9de7-43bf-b75e-567076f13424 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:409e0a1b-5a56-49f0-b0b5-89e45363a264 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:166495e0-3923-4cf9-8782-783010fc4724 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:37ffe325-6e6a-48ca-ad19-7ad6edd5506e phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:8b59b469-fa64-42b5-ad94-bc0d0c11c200 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:12e5078f-d89d-4f88-bcb9-0a032b084e55 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:a6245f04-4cd7-4010-a112-2840a7150ba4 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:d11a7e53-29de-4237-b7aa-68b518a31070 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29889099 uuid:fe0939dc-9b11-4c16-92c1-8a2ce94bb97d phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:29889099 uuid:c84f3d78-6da3-4f56-9f09-2def0baec752 phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29889099 uuid:da8cd95c-8ddd-4f38-835e-be8736addc00 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:ab1f0d07-d5b3-4e13-97b8-4d809f6f3c0a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b73f6a2b-760a-48a2-beac-35c6be841def phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:065f3873-b7ad-4264-b053-0c50bdf905e6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:049293be-5dfa-406b-8af4-0dec1849b534 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:53828b1b-1003-4478-89f8-8f972d9fd3b0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:15632d0d-8dbe-478a-a438-c35d80a2c96f phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ab7a0c82-a319-44b1-a9e0-fbaa1cd1bba0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:472a58a7-c678-411a-88a1-467a83ac2f43 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:27377ffb-504a-406a-89c5-f5fde8828316 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e155e40c-6534-464d-bfcd-86f82c78027c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:92165e42-3b52-456e-996a-ae1c8f2a3653 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f1652fb6-1170-4163-8dc9-d119958db577 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:05c9f9ac-913c-491a-9f99-08d5175e71d0 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:19b2f2f2-c005-4eb6-8b4c-31db5ed41761 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6efbbd14-8bb6-48f9-99e4-f224156e4b5a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:996196f4-4db8-4814-a9f9-e7be55f312f7 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7cde19b4-e1a6-41dc-8f64-5a1eb683778b phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c9ad88dd-14f0-4491-bff1-8336d2760938 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:86b2226e-7003-4188-833a-e559c53a5c67 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:1f779dbf-b19f-4019-8488-af0d62533238 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:26981933 uuid:4eb0c36b-7e10-452d-96f1-e44461daf45b phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:f8562b94-75b9-4326-ae55-1f862a0b26ab phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:3176cf06-dd8d-4668-9759-fa4ef7d93ce8 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:809bcdc6-844c-4225-9b2d-168a980b6767 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:1caeab3f-8e53-4612-b1e5-c97a2994036e phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:ee45688b-9fd6-4efc-9667-472b1b88cfcd phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:9104c83f-3ba1-47b6-abbe-de162222c6f9 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0032129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:85f544f1-a7b7-4d90-ab3c-9510bfad40bd phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:b9cf196c-eb6b-4e30-9632-59625a7c94e9 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:ce75bdbd-3616-4db2-bd04-69a4f6d1d511 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31057532 uuid:9b976d62-817d-43e7-bc9b-a47812551af7 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1a8f516f-0a6c-43cf-9e60-d8343df36aff phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:8f6ddf11-0a80-4bbf-9134-d503c52c75f1 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e39c0ce1-087f-4964-a01a-9c3794cf0353 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:eef79e2a-b64e-42b0-93b6-41bc0a3e467c phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:29114a30-b775-4403-bd8e-d17eb2554932 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0030380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:ae5fdccb-ba2a-4642-9b9c-8c2170b09204 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:1d4fa0c8-7b5e-4e2a-a597-28681c1f75a7 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0000872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:f5525b9f-fa7f-4801-a312-dac797d3d6ad phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:d2c9a634-0fbb-4f22-a6c7-feb9442ba697 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:0033563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:087798ed-0b17-4168-a288-a1e74bf05f4f phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_phenotype HP:4000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31057532 uuid:e392dbc0-a471-4df7-8723-29085a39a4b5 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:31057532 uuid:f1d8be56-84a1-407a-b928-877782362639 phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31057532 uuid:2ba29f05-1b33-4c53-be4d-bb8afec1b68a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:26981933 uuid:1a0dad2c-c304-448b-8cf5-e10feff18a72 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:0af7b7e3-fd65-4f25-93a7-e1ba0fa3add5 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:c1d7c902-dcae-44a8-9b44-80d21372ac30 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:ee13e1b2-2ae3-4dd5-ae7d-aa87cbab333f phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3737202a-8bcf-4f51-9149-d4fb01dda842 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:69c562d5-f517-4bfb-a093-3b4cc2b1ac7e phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:01fc823f-fc5f-4d1a-a3ed-08eda36d5ed3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:82757016-6a40-4227-83ab-52f836311a45 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:23088cac-5e0f-4f90-941b-7e0c5ee5a650 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:00f273de-d13e-4880-afca-995bb964aa6d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a0639e1c-9e2c-4095-831d-22a5dd533acf phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0de19cbf-8bb0-4426-aa7b-0ff04e2351ff phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e616266f-0f0d-48f3-a010-2ceac77fd6a5 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ca382236-27ee-4e37-8e1e-004d9b2fa85d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a55e0018-1015-4e46-a98d-9629751aac9f phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6f497d36-b537-43f0-88ac-f99270574376 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:06c1a345-1cba-4e5b-8656-8dabe399af48 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f4e4c467-9463-4c85-9f56-0872417560b2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:bdcde551-9bf3-4d50-9876-c2f775a25e2c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:26981933 uuid:879f22c0-c940-41a7-8498-1d4986cd8155 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:cbbcac59-0756-4e74-9a7d-81108651e185 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:fdc4350d-8c0d-4003-99bb-868efe53b420 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c21933aa-fe4a-4a1e-a52d-e935b00f662f phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c06b56fe-df56-4435-8ecd-70f063b9e091 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2d770e3c-325d-467b-9da8-37d54fb6f90a phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:7eab0eaa-1ea5-478a-9671-c3039c5e41d0 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:89c54c60-a761-45a0-91f5-4e2b979b7dce phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ba03f9b3-06df-4474-aef6-a0e995ea3aa2 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:9dded2e1-d87c-4b3a-aaaa-de553ef5f2e9 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2b1ecc35-63ed-4c33-a2aa-9b89bf529b60 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:316a2125-b0bb-4097-a9aa-35dcb4ca0d33 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cc621d03-7bd9-4287-86c7-b7e70761bef6 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2c89e1bf-339f-4549-858f-2a379798b014 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:e4d580f0-e41d-438f-8fda-003623657282 phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:ed1ee834-baef-4af0-9f1a-c5dc2efc7869 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:31069201 uuid:1fc79278-f89c-48e2-a0c6-c2936e3ead7a phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:31069201 uuid:657c225f-185a-4dbb-9b87-fc64005a3b16 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:31069201 uuid:e5c05cad-1ed5-4b2d-9d86-30a620777c4c phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:31069201 uuid:6294909f-e04e-47ae-a9ef-5d35303bce0e phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:31069201 uuid:5156aa7b-25ff-48d4-b129-c8e0be0f2e45 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31069201 uuid:41d7f66f-9f9a-434e-9e54-3011fa5ffd53 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31069201 uuid:3d639d6e-3c78-41c8-ac43-f707d929244b phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31069201 uuid:7bd7295d-0992-496e-9026-1b9983f40ce2 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31069201 uuid:3edb6643-a803-41ea-92fe-e694b6fcc983 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:9a274490-cb65-42fc-8576-ad078aefc0f8 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:c3824518-9e42-4ba1-96dd-9064efef8683 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:f8a35934-5a54-48a0-8d07-a68457a2c116 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:f8269971-bc2b-40b4-b843-1a7cd266a927 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:43d279ff-ce8b-4de5-9785-1c9874e645b1 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:f79ce546-92ef-4516-b26f-19443a503e6d phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:9a55af8c-62a5-4f02-87e3-4b73608d67a1 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:f9af0f66-cf2b-4757-83bf-68a934bf1c38 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:92fbecfd-b00a-40c8-b8f2-70c883e3c57b phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0020103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:4ca8ac2f-947e-435c-9596-2f51544ddd86 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:97e18433-4505-4ba2-94f9-b06f4132b6a8 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:0a1b75ae-cab1-43b2-9048-ea70dbe78fb7 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:47b34989-9f77-47c2-bbde-cff4bc3b4f47 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:d622ce55-a1a5-425c-97a2-5a5e151fb443 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:87bc5190-88e6-47f4-bb8b-5a2bfccc8a32 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:aa6377e3-470b-4289-94d5-912c8b888076 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:df060148-93ed-4e82-a12d-3bf5995bd4a0 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:6000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:c7789525-7c5a-430d-affc-378b5272bd9a phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:513aec96-635b-4a48-a910-b93dff32b322 phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:76afab05-d5e1-46a2-8591-7b9ecacda8ab phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_phenotype HP:0032170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31069201 uuid:42fd7125-a029-4f8b-841d-806b4322924f phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:31069201 uuid:4da904a9-96fc-4e40-9465-e26fa2c8c5ae phenopacket.store:IKZF1.PMID_31069201_Patient biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31069201 uuid:47d099fe-4adc-46f3-91a3-dfb9794b519c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:26981933 uuid:2b6f0187-c171-498d-bc82-724ee369b4af phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:39bd1bb5-8c72-40f7-a5c5-4591d703d4f2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:b3b3a595-8e69-4262-8975-134bb32cb67a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:3116c5ae-2f41-4124-b567-debd8a97c668 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4cc6dcb2-02da-4d8c-aa9f-6d0a32c15065 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:2c831112-af60-4a6e-94be-6e4d51b79ffa phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:342c1d4b-31db-4b88-9cd1-96012efee43c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:371b4c56-a1c9-4e68-81ee-395548fd2582 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cd6d7d58-ef53-48dd-a381-f636dbd3bc84 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:b73a8160-82b3-44bb-85ea-b18149bef276 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:619b86d6-76d7-4131-bea5-5bd82d9a494d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:226c2b11-7114-42cb-9227-2cf30da20893 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0ea19652-fe8d-408c-97e7-e00f72d4fce4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:6a1b575f-858e-4eef-9492-7927d26e479c phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:07526459-243e-4598-8801-6763deb6e137 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:852357f2-ed70-42f6-98be-53583fdcdd2a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:4cc608e8-1cc7-4a97-948d-0cdf30c89dd9 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:c8a6b56e-5c0c-4210-bfeb-afb2d837d12f phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:503776fa-b564-4d1c-8b97-a0f5098af8fa phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:86a8a9d3-e192-40cc-8480-6d2836d5d763 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:26981933 uuid:9c0c767d-7ca5-4b8b-8536-a3bcb187f8c6 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:0be2f176-d6c3-4dcc-88fc-d65569e1e93e phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:26981933 uuid:3a46d762-e3ec-4c9f-8c9b-ae56b049f344 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:fff50e32-ecea-46e4-91c3-1c95b31e2fc1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:6b7a057e-d942-414c-9e5b-7dae9541f6bf phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:a2d9d472-e6f0-475b-a880-fcf80127b573 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:49d5b778-1edd-4622-ab3d-0790b51739c1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26981933 uuid:0591e471-8862-40b7-aa6d-44adf56cfc1d phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0004812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:bf519be8-0951-47df-b5c6-42e365ebd4f3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0006727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:662eea55-5fdd-42aa-a2a5-30dde1235550 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:ddad233f-f256-4556-989a-0ec67776789a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:e91a7086-10f8-4dfc-8b82-76665208d907 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a061858f-c18f-4b9e-a3cf-f142298aaaa3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:0a9f1c2d-022a-4232-ad40-2bbcf0981438 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:d4991b9c-acb6-4910-aa18-eb4df5396514 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:056d1661-e084-4c76-931e-edb954b282e4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0006946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cb3aaf68-1352-4d30-a549-68e3ddc8a809 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:cea103a9-b1d7-4aaa-8f8a-8594f024ade2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:66bdba2b-12bd-42d3-a56b-98fc069151f1 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:f9084c23-da23-491f-9023-ff872755f645 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:544286ca-703c-492e-becc-1677f93a27d2 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0032218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:3bed406d-3ff9-4686-a625-9834522a438a phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_phenotype HP:0032219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26981933 uuid:a0d01fba-ce88-40fa-912f-a35b9438b3e3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_disease OMIM:616873 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:26981933 uuid:6006510b-7420-4e29-8c66-6af43ac11dc4 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:has_gene HGNC:13176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26981933 uuid:cb53d488-c990-4832-8044-326e3c6f70ab phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:0043e797-2a80-43f8-9da0-bb8609089a99 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:760e08b3-e511-4025-9fe8-e7d6e69480ce phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:e8484522-88b0-413d-b48a-973ca01a93be phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:94f30b8c-1ddc-458c-bed7-eff445e24438 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:677eb763-6109-476c-9a67-7cc1fbfc5042 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:4e580171-ab22-444e-b923-5c92b11653e2 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:3c10fa52-fa2f-4b6a-8dac-4c664349576d phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:7d8ab57f-4750-421a-a520-c5df060de9fc phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a2bdba9d-b913-4276-9c2c-b1dd251b3196 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:804abbf9-cddf-40cd-a1ca-2719fd3ba4e3 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:05b4a47f-d65d-4743-b6f0-2ef441119672 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:a67e0080-ef7b-4878-b85f-eda2336aff1b phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:5a80224a-4479-49a5-8296-c31f7aba0379 phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:5c34dfc6-1b58-465f-a077-5bed6080eed2 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:bc4dfcf3-fe31-403a-88e3-41a6ceaa1fd3 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:7cbe59e1-cf0b-4fb8-9a9e-43745ceafe43 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:1bf2947f-8ccd-44ae-9701-61d333f085fc phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:d9742249-3e04-4db4-83ea-7f9de0972f8f phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:45552a95-4ac0-415f-a7e2-9a5ccc1ae19c phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:9261b1c4-5b42-4d1d-a62d-979aa15b5732 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:9e02e535-22f4-43d6-8529-e760b1219f67 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:0555ef5a-f533-4116-9173-43c58692f56e phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:fdf60e34-5b67-42d0-8aab-1e3c3e2ad806 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:244d7857-7927-456d-b18b-1c0504a2e78e phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:59dbabfe-968b-4239-bceb-4fbd82aa163b phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:cde869e4-90ea-4755-9ba1-b6fa2e6678ce phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:86ec0e9e-203d-4e91-8574-a2e6f391badc phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:54d0c3bd-8c33-4e14-a5e5-5a2d7cb75b01 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:0ed39071-465b-4002-8dce-127f48c68773 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:7607e5de-8b0e-4447-afd6-53c409f8c6f1 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:3807c11b-f5be-4eaa-bcfc-3709f3c6753c phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:b343c18b-afc5-4b0c-99ef-91d4cb557a65 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:6c2664aa-6e05-4537-9cf2-536b40b09df6 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:06aafd44-a286-48bb-b56c-f7538ff0c1d8 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:69540d22-856c-41b9-8ba7-838a0724caf9 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:b1aa003a-16e7-435e-aa58-ea110847e450 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:dae76069-8b74-4e67-a132-aeb5d8dd18d4 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:55dbdf46-ddba-4f8d-bfc5-3e456ab94dca phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:c8539bf4-84c3-4c21-8613-3fb572888908 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:97ac1b18-fd52-4f96-ba42-9006ce83a73c phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:c42ecf80-7b33-48cc-ac64-0b37f8639636 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ad088464-6d45-45fb-a9b5-af7c7c199e86 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:5b5ce51e-3993-4d6f-ac1a-6598f839a51d phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:fe5e44ba-2b51-4980-831f-3f52d38c133c phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:4db803a9-52fe-4f5f-9769-f9f934668b50 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:bcfc8cc0-e805-41dc-831e-470fbebd3274 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:744a93f7-9467-4d13-90b8-9c8877246514 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b3f94950-6a29-44ff-bebe-f67ca5a0648d phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:c584f125-6a4f-4094-bedd-72088e32c6b9 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a5b3cbd4-887c-4980-b003-2955192456d6 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b8cce4ab-e708-449e-9b41-3c4f5111e548 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:f65e0d73-e34f-4f52-a6c1-4a91d1b27180 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:dcf35571-2eef-48cc-bd64-586e7c725459 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:6981c932-7488-4009-ad5c-1ce640aeeeff phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:e6130c3c-f4ce-43f6-9291-6657e23c5b92 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:21249520-c3a1-4863-b8b8-fa14475f6220 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0004565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:7005206a-76df-4690-9873-bd309db1950a phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:155d5bcb-fa81-49c6-a44e-5337161f5ad6 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:80c9b7d3-fad8-4770-ada6-8ec70d9893df phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:da855490-ccdc-4329-bdd0-5ce12e6e3f17 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:0aed700b-302b-450b-b604-7a0992aa374f phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:92b8308a-96d8-43bb-bdd6-0a618c65fa6c phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:7eb90fc9-c4f6-4a1b-82e2-bbcc743f019e phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:1b04da43-f2d1-4ee3-8e15-2550d3ea12df phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:658d4a03-b66b-4203-aa3e-688632098fa0 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:87d66570-59c6-4ddb-9d43-9f3e5f46b601 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:968b3da5-5581-4d2e-8bda-32aa29eeb600 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:87fdf96f-c626-4fd1-841e-4a893d471924 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:a76dcf47-35dd-4037-ac7a-639d5a3517ab phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:319b4395-1f36-440e-8baf-f9883a7388cc phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:627c7a85-9820-42f6-bfac-5f3d84b95f7f phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ea1fabc3-38c9-41cc-b587-04eef14d457e phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:fc1c5b1e-0649-4588-940c-7fe6c5024a14 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:0f19650b-e3c0-4583-9f1c-dd74653906d3 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0004565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:191d94ba-0281-48d5-9563-38c61297b50a phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:d09aca02-a0b2-4436-8265-eb2ad6667194 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:e43e3bc0-7ce2-42f0-b6ad-3f32437f801f phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b8e882e5-0680-4406-9833-90c600e1d4f9 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:dffd634b-15c3-4477-92cc-b98742eccffb phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:0b600e1b-1974-4a6b-bde4-ce7bc94ec396 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:d33c662e-0d43-43a9-b338-714e304a75c3 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:6eb31926-a73e-4287-a873-16c634753f7b phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:7a0cb285-802a-4807-83b2-03c2b10b3ddd phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ec8367dd-d568-4133-ad36-052972bd60f3 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:279ace1b-8424-44f4-8757-957b3c92479f phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:584f5c88-7c30-4e2f-a687-196328e1de60 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:6e7d4d1d-dc07-4902-9042-dea23e46d9c7 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:1d17b144-aea6-4e9d-9ad8-aeddcc7b8949 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:fe4c7202-89ef-4340-93c6-a239b34a02d7 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:c250b00d-7d41-466c-b607-a9cc151ab027 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:a933f966-4c20-4a70-a779-4d6e9b572ba3 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:da08ed56-45fe-4717-a7c4-f7340779fa0b phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:939b5a5e-6276-47fc-b68c-b69d405ed6bf phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:65c9cc9a-6a42-457f-a021-43b4f2f7c230 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:123b1472-bdec-40b8-a4a3-2744a66a5384 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a86672f2-e50e-4212-a64e-c71bc4de3ed4 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a04db3ff-c033-4acf-a728-7a0756ae49ae phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0004565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ec0ea868-5ca5-4efa-9fc9-a14b7de6c996 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:df76fb2e-3f11-4e33-919c-728629733de5 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:fc47ddc3-7355-46a3-a904-731da73c255c phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:f1bc3250-5e4b-48c1-b3a5-acc298ca976a phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:f4236bec-0a9c-48ca-8474-4580e1590b1b phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:81218bb9-be02-442c-a662-ea0e33030db7 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:52c4dae7-30c9-403a-85ce-b7a6c447dd26 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:12b96b57-32b5-4c9b-b2fd-0302518b7af8 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a3959a07-ca83-4a2a-badb-3f424d587c2d phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b4ed3916-89e5-4589-bd25-df30bab78a95 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:39100907-6c91-4530-aaa2-087bf7b1ed55 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:33dcfe14-0d52-4312-8a70-3c6b73c894c4 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:dc64c0b5-24bb-4584-9b21-ef441d287b83 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ee8ba495-105c-4c7c-952c-a32c330415da phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:2edec57a-8b7f-43ef-a5c8-bf5ff950588b phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:b054d58a-7907-46b7-8710-a1a708dc7455 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:0c0bb9e5-91ad-498c-bacf-0f4cc4557965 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:da5a0a06-1c29-48e1-b4ab-200fd0c4c22b phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:0c709ce6-b2d4-4c3d-b17a-c4bb5f381329 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:09d58a40-525e-49ae-87a8-7f4fa58be80c phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ee24d38c-6d4f-499f-b20c-9bd8f81d106c phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:1161c760-a14e-437b-8e63-16b547a56715 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:8f1a1de4-e0a9-45df-a1ef-b27f829cc5a6 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:e36bf975-4972-438c-b8f6-1bafe239a6d0 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a45cd2b6-88f8-49d0-83db-fb4ae3b2f297 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b6690bbb-226b-4c8e-b37b-f55d098dc279 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ada65931-0d3e-4050-b4e3-a66cbe34f824 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:771b4ba6-5b86-44d5-86ef-08a08965a74d phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:d94aa786-9b93-4e53-93ee-b0b9b001061a phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:10bb36b6-9d11-4b5f-a98a-a2ddff7570f1 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:2354a1f9-9462-45ce-a84b-3fd7eea8b9fb phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:ed5d2fb9-66af-4774-a525-6e831023f41b phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:38146768-cef7-4c3b-8872-46ca8aad0861 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b7e2ae53-06a0-4a79-8bab-5f62cf8c9055 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:1068d66c-f9a0-4ac7-88ca-92ad8adf10ff phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:c2a0e172-f768-408f-af61-5f4fa989b867 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:fa42c986-a5db-4e47-aaf5-141ac1d16da3 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:e4cdba3d-d180-4df7-afb2-3159068f8fae phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:a89464f6-6055-4aaf-b5a4-abd95e85d8f6 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:c396656e-3ef5-432b-823d-124ee1317611 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:6c66bc75-2373-4a29-abdd-54a7bd57c655 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:153b1553-f7cb-4fea-813e-bcbdcdd15f6f phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:4cae70c2-0c2e-43dd-bc3b-1e8cedf900f7 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:35854c8b-2284-400a-a6fd-4e325716ead3 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:565bed8f-eacc-4e8e-a8e1-aa1ab8ae299a phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b8f90052-22b5-4fea-be1f-bfa8ca643d12 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:c7eb041e-dced-4d02-a01d-569e1377b62d phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:387cfd75-d6c3-4f50-ae42-fb15040e6292 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:660e039f-966d-4d52-8ddd-5c4b13e5435b phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b2d92b88-236c-4b58-83d7-28b47482faad phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:2a983fb4-e931-4244-8d81-6e978b6dd8d9 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:f49b8079-09f6-49d8-8e07-842915a68b6a phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:58f07b18-e13c-4d30-b138-df83009c6c99 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:8f98a2a6-4aa3-4254-adc7-d6b1bc462afd phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:a7e0bfdf-5a42-4748-909c-5d9aaf2c4a3e phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:01055a5f-671d-455a-99c3-77d54fba6218 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:616f4ed2-67a1-41f3-8cfe-d6c2d4953fd8 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:1b640d0a-c228-4077-8919-b4f2075402fb phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:9beb6e6a-2eed-42fb-b979-cdd37a385973 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:9e041440-31cf-4c90-8984-00d56bb589de phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:7c7a1848-ad1c-441a-9182-2e53e0a785fd phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:204ffe41-1e9a-4f03-a0e4-7e8401b066b9 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0003021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:cfa093c0-a461-40b3-a0f3-354d586dddec phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:b22f94a3-15c6-45e8-8733-96d1240f8026 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:966aa25e-dc4d-4f15-b206-dfaba26b4f4a phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:80dd1957-d271-424c-82b8-c8faf4632bc7 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0001027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:92e21435-25c2-4c5a-9d8c-b23269c92ca2 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:9e8b8ec8-079e-4117-8d10-c7eeb3a80675 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:cdfdceb7-bf21-46ff-9a25-7dc8fe8d2ea7 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:611b6f5c-7880-488b-a34a-631930ee7310 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:af2b5c4a-c084-41a6-b758-d557d647549c phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:3dcf05b6-9f21-4bad-9b9c-39d445e5ce9c phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:edce1339-9eab-4c5b-81b4-42747f5ae25e phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:1f5fa15c-ced7-42cb-9ed9-aaa48708e192 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0002148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:6a182c5a-b738-4ed2-94e9-887870f07eaa phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0000117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23273567 uuid:dddc1fc1-8ada-48be-9e0b-b55e73dc64a3 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:510b46ff-60bc-4c7a-89bb-7488cc0f1d3b phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23273567 uuid:a2b7bce4-57c1-4b58-a8e5-90de78b9f8e1 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_disease OMIM:258480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:6ec6157d-71f6-4046-941c-08d7cc91f21a phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:has_gene HGNC:6080 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23273567 uuid:0e161719-5a80-4e97-a425-6eca52143ef0 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:24498630 uuid:5d60248d-681a-426d-af2b-d1b8e8efe0af phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:cb71df54-38eb-434f-bd93-7c357f458a92 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:a0596808-0e21-4113-a393-370416610ae9 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:37d92834-03c9-4887-ab98-553416a01b28 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:d144ac4f-3985-490a-b453-6013d028549b phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0030796 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:dfeeaf4c-6a72-4b90-a7df-9fe42fa74b67 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:cdb2286b-9be1-4fad-9d22-f8859e1702f2 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:cab7de4c-52ec-4694-a6bf-0df77f476184 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:2e9fa165-776b-49a2-aad3-c96a46def12c phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:98d75541-6097-4180-bd40-1f0fa697a69e phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0004405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:fd4aaf49-d63b-4710-b8c5-40e38630da2e phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:cb300559-ab56-434e-991d-52c92d0b65d7 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:6e341e29-ed63-4073-93ff-2ed3178f7309 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:bc6ab2e0-a76a-4d5d-b40b-11ed7e78cb9a phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:1fe08ef6-d7f4-4555-aee4-0ff4fab50e1b phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:78c2fb39-fc28-4bca-a4c5-d50f54867876 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:ba5f0aff-c7c0-4a44-a6c4-0a274056bd6e phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:d657809f-43c7-44d6-903d-d5b75b91ab07 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:4d353aa7-84e0-4b0d-aedf-6ab4e9c1cef4 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:da0a303d-ca3b-4544-8699-c5779e37c202 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:d8918e1c-fc3f-4a27-8b20-64f3ce887fe1 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_disease OMIM:246200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24498630 uuid:c9e3e0d0-a53e-419f-9fab-07739726d3b3 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:has_gene HGNC:6091 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24498630 uuid:652f6840-21b1-4019-9f8a-f0fab1ee15fa phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:9739d33e-a573-404a-89be-e202d9205bae phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:769dd264-b2c3-4d2d-a406-b0186a41ecbf phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0012408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:1f3c174d-73fe-415e-832d-51d861d4225b phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:d373534b-8766-4aad-a1e1-1dea64b2cc85 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:0e2f430f-197b-4aae-8a97-80c61b4400e6 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:c797564b-a8a4-405e-87f1-f5a5500e1ed4 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:24498630 uuid:553533cb-fb1d-48cf-8d0e-1954bf1ec378 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:24498630 uuid:03f033f7-62fc-4260-b255-abac85cd0398 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:24498630 uuid:20978693-a889-4dcf-aa56-4ac06f863024 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:24498630 uuid:e862a7c0-1de4-46be-8699-358066a1f121 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:24498630 uuid:9c2996ea-8b3b-4528-8e51-455c1b578f65 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:24498630 uuid:acc18d55-5734-435c-9ea5-6e99968c232f phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:24498630 uuid:c9a1f164-d394-43b4-8e49-569c5ea6c08a phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:68a9941a-44ba-45e6-bd7d-ae50bc083fd2 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:b1820a40-cdec-46f5-a6ee-9a2c2a5f15a0 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0030796 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:8d9a2480-e685-42dd-b06c-27a034783009 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:7aa12ff8-5a35-41c3-806b-52f3141d3eee phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:0b0d0816-872f-4de4-8283-adad4f0b8800 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:115269bd-31c7-45c5-ab32-c09f537de14a phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:a7afd277-dda6-4df4-b9e5-ae6d0715f935 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0004405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:81b268f4-ad89-45b1-98ae-b963c6331e19 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:e6c12dea-0b33-4718-818d-d1dd0451fc66 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:30ed6621-8c77-4e1c-8a32-a3aa222ff6ae phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:da26a1a0-7285-439d-ab58-3af42cee0067 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:d6bff9b7-e84e-4122-8431-5ba6f2abca95 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:cc1fe2b5-3f03-47ee-b1b9-f9015277ca4c phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:1ea51ad8-eb2e-404f-a6fd-076171169382 phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_disease OMIM:246200 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:24498630 uuid:13a49005-be83-4fee-8f35-faf3a476cf2d phenopacket.store:INSR.PMID_24498630_ISR1 biolink:has_gene HGNC:6091 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24498630 uuid:1a5795c8-c9f6-41ce-a962-8095f8bc888a phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:a5d01ac2-4b60-4165-9213-7d1a3313f51a phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:eadfce5a-caf5-4857-875d-1c992e662f90 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:ebf42fc5-4742-4265-8532-e13f36091c06 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:2f426628-ac1d-4cda-af9a-25e44816f284 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:952c2243-688f-4598-8fd0-9b7fd46c0806 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:82872efd-3e72-4277-8df3-c16e03974109 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:cf26ffee-6027-42a8-9420-9543bd36efa3 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:b94cac22-7086-4904-a5f9-d2a8660dc205 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:9ec7028d-238d-4de4-ad10-ba132a54e958 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:49267dc0-b99a-4ce8-a42f-3abade510b09 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:e33a3a5f-27cc-4fa7-a862-6cd073c55a82 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:fa36a66a-e1f4-4542-987f-4365bdab191c phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0004405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:5268e685-5a0c-4517-a87f-0d4b49c29c68 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:3f5f036f-368d-409a-a955-2cf842f19171 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:c8f52ee5-3dc3-4ed9-8769-171a3ffafbd2 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:229fb32a-d9a2-41de-b468-5b26a9a5fbb7 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24498630 uuid:1c1f0873-abce-49fa-81d1-ab2afb854a28 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:e41593ec-da3e-4f4a-8e1f-fa9369689cd5 phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:9c3f926f-605e-442f-b2ac-c75089ac6bcd phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:3e8fcba2-1789-4e89-8ba7-4bcc2c6183af phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24498630 uuid:601943da-c246-4bc4-bac4-86740bc4fb0d phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_disease OMIM:246200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24498630 uuid:6e933976-58d6-44fc-b9a7-6f8f40b8d92d phenopacket.store:INSR.PMID_24498630_ISR2 biolink:has_gene HGNC:6091 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24498630 uuid:1b69d44b-18db-470d-836c-a360828282f4 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:6da57fe4-56b2-4176-8d5a-47fb2715c4fd phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0694ebea-2893-426d-af53-1fd07c7a7c11 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:1e73ab45-1d44-4d33-b5f3-172fea423063 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:2d765b16-83e1-4fb0-83a0-2b89197e23c3 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:f4364915-3cd2-42d6-9f81-3e0d8187936f phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a1aee28b-3d67-4f3d-9eab-394cdd5e0727 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:4f5dc413-d309-4bee-b27b-608474a7872d phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e0c47bab-6d8e-441a-a382-27470f6b69b9 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e2c71c2c-a2ab-4cff-9257-3eabf9c55e86 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e09cab19-7301-4180-8934-33c834bdb221 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e6f937c4-bfbb-4f9b-9ba8-d5a0aabba859 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:d8095513-82a5-45a9-be53-998092dee2a5 phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:79cea2ab-fce8-421e-a198-925541b316b1 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:566b9f5b-5528-4107-98c7-dc0ed4a8f759 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:1f80a2c4-975c-4c03-a974-12ab6c12a1bd phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:919bbbed-7099-46cb-b0cb-11d5fe0757b5 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:3b545997-7d26-4baa-9c9f-9c7d0f726e6f phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:5e2abdf5-0956-40a2-87c8-d02418f1d8db phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:475afd26-b1cc-4356-9cf4-dfd7a0d60090 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:26b0cc59-8757-4269-9d4e-fcb408da8baf phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7a597ea4-24b4-45b3-a569-2a63283467b0 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0000350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e7cc82e0-6c08-4c17-8072-53508c44b60d phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d88a60f6-7a34-450a-9806-ce26784b5c41 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a63ef136-92f2-4096-8277-b4a3a6c58c67 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:ebc838f3-6f8c-4f33-b5d0-ba35bc63bb63 phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:3c988ae4-404f-4441-9a08-225e24465423 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:868947b7-d6cb-406e-9616-48de2e241e12 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c9e52e15-6141-45c4-86bc-1181a9d80a7e phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:8cc54c06-d5a9-42df-bd6f-91fcee0b6c53 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c5166713-fd23-41a5-9019-791ff3f19716 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0002198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:64b71dbd-7c01-4b52-9143-482b83c5f506 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:8cdce913-81b1-445a-ae22-6512a720f47a phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0e72fd6e-872b-4516-bd0d-734e42d06646 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:b2ead5d3-e905-4297-858f-ecb20596145a phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:f19018ed-1b84-4b03-877b-5c819c67b6a7 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:fc7ff1b9-a98e-463b-8e6c-db025f0f3ea9 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:f2bb25b2-6a9a-4d06-949a-0f7f389197f3 phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:84a6ea24-eb1d-4d23-8f2b-cc611fef278d phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:66b7f439-b9e4-45b0-9d36-974443c8070d phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:3386bfd4-7e72-4392-800e-e1e2e21d24db phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e728dd1f-7826-4b2b-9331-9522d796c7ff phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:98e9688b-f6a6-4bea-9879-789d7afd757a phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:79958380-1a60-4809-81ec-57216258c5a4 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:ad1c15d2-e21d-4432-9c8a-729f7157d2ca phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0006879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7c8e57cc-5f7d-478b-88b4-154dca2947d9 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d8041275-0964-407a-9e72-95481a3cd084 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:5d6fb4f7-9313-4182-9c90-5ab5897085a4 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:35c2a899-badf-458a-8fd8-2f35cfa5fff1 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:21a81a7b-faa2-4c10-8dc9-112a7bcef91c phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:906aca34-f1f1-4fde-b912-1379c0d9f1b0 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:de33a37a-7374-4abe-966f-dc6805927319 phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:312cef98-ca75-4f12-9655-46ee03274473 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:8ff8420f-0a2e-4422-8e71-677bfec654ab phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:dff15bc3-62d5-49a2-8c15-0e0edb680331 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a39c8a89-3f79-4505-a548-cec16f604f69 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:edceef35-7403-45d5-9f02-e47c2e5a814d phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:ea0be7be-d50b-4936-b6e0-5ac50a3ba3b5 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:6094487e-149a-4220-b500-dd267adb6f3f phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:aedb0d61-6148-4eb4-b9e7-5cbd367a96d6 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7327a573-1f5a-43fe-8cc8-b9e7aab1a963 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d108dc6a-5f7c-4397-9b8c-e9f8be9a1366 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0fc4db8c-37a1-4c94-93c9-80c52abebd48 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:e5423fe7-7d9d-4b75-bebd-41b708cfbe19 phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:55a0f6af-ede7-43f4-a6f4-afa2f50de7ae phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:865e9bdb-bb1f-4515-839e-fec54ca50757 phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:83e9c70e-9350-4e1d-8bcb-e57819a1c959 phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:f43009b5-d53b-4704-8616-8394091a2421 phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:9f667427-314a-413e-b2c0-6b1219e0c9d2 phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:f6327021-569e-4585-874c-0f6833a6b006 phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:f55c95d8-3b86-4bbe-a263-a952d29c9fc9 phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:6a7ad78c-9e71-4a7e-920b-b7f1efd12b5a phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c6729a5d-89a2-4e15-b1af-13c5eadcdcf6 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:8459fa70-8660-4d37-9fa0-0273a2a01280 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:ffe625a4-ca4b-479c-9a3d-e8ed978d6c2e phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:163406aa-69c7-4e14-a5d5-d046c511e24d phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:ef383f7a-8f33-49d6-89ef-51293476210b phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0c307753-c6b5-4cd0-a3a1-696639a02570 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d3208f42-a34e-4429-a4ea-520b4e23af33 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7c0658db-8824-49d3-95f9-8df40c730dd5 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:ae790122-215e-47c3-80ff-9e585b6d5cc7 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:073d2a6e-2a77-446e-a4d8-4dcb251906ea phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:ca306caf-a523-4e43-b1f9-bd7652e576b3 phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:5bf100b7-45f7-4292-9247-56f624a6b671 phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0fdda6ce-b3a3-4381-98aa-525f1689f37f phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:ffb2f808-5d18-40e9-8ec4-77cf7aff0b4a phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:fb6d70a4-8ae2-45b4-8cd9-687c3e63828e phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:abf1cfa8-2218-46d6-a35a-b6a9fb91fdb5 phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d8c8aea1-6d09-4a39-92f4-641007b4e69e phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0c64e143-4535-49f6-97f3-2ecbf19cae78 phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a8a96396-dd27-49e3-847e-0e298dcf2897 phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0009800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:461771ab-fb8e-4816-9236-817dff693ae8 phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:204d0b16-a3b0-4f7d-a887-423dcaac833e phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:8d5763ab-8b65-4ed9-94b7-81a3f43c4de1 phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:ab25f3d0-eff0-43f0-8adf-62b50ebc673a phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:140044fb-de59-49f3-8483-a6f607d98482 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:eb1d3fc6-e4a7-4390-98e2-8ba3188cc1d1 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:28f1278f-417f-4155-a207-f256da6244c0 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:209cb675-1f9b-47d2-9472-64f784bce593 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7adc1500-429f-4e8d-b220-8d8e8535bde4 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:686f1dc5-30c9-4b8b-94a1-6bd0fd7efd52 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:b92b6f38-6f3f-45dc-9a7c-de52576fc3f1 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:739f0b13-57c0-42b2-b521-a5aed25fbb79 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0009800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:14de3509-5d23-4e38-ab33-422ae9115167 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:9f7f44ed-7e73-4167-921e-8906c6b9b254 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:fb3fc9a5-754c-417e-9091-6f46acde1d04 phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:ea5cc778-1c89-4d43-be9a-8c13a11ed45b phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d7b30c1a-6366-469f-be03-9d2fc491de1e phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:6253349f-c4ea-4bd7-88c3-b9f47736f8ae phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7fe4d7da-3849-4a5c-829f-7312119eb8e7 phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:bb23acf8-85b6-47ca-90aa-cec125922ae0 phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:e28d6a11-b719-41bb-b5be-83276ff02181 phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:98e81bfd-e055-4a13-b216-bd2f4fa078bc phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0006879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:14acc721-f307-4f4f-99a1-47937debcb2b phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:4201dcdb-af89-4101-80c8-5b14cae581a0 phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:9a18df45-026a-40ae-a95e-c5663ed03fdc phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c3b36e69-e4c2-45ac-92a4-3ef64ebb51ae phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a11e1776-d20b-4417-82f1-ccc963c30829 phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:b1fe1a3d-1a08-4257-9d4a-d84834d16419 phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:3cf99fe3-61d3-41be-80b2-dac36b3a5cfd phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:c49f72c1-185c-44ed-b24d-64988637dd02 phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:5e03c024-c452-4758-b73a-31e9769e6a78 phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:dd467507-b04b-4115-845d-bc86e24e9204 phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:90a8421c-1d6e-4603-8cbf-14cd021cc015 phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a5dbafce-09ff-4314-a59f-0c052b605cc0 phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:6a050963-c3cf-459a-b402-d68f312647b1 phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:49e11555-42ee-44f1-b988-2e58573afb6c phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:f96035cb-dec0-4e75-b2f1-fb6e9d1b690d phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:919874a0-ed2f-4278-97cc-f4eecffe3bcf phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:7918bce7-fccd-4c08-991b-4c1a76e5189b phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c8a30270-f4f6-4cec-a34e-570264407a54 phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:3c2bc3cd-243f-4b6e-b82e-eefd2980eb3d phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:d026a124-8ac4-40cd-9f73-9ffe1a75083a phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:443c7fc9-483b-4f87-92bd-5867e7de9148 phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:95d3a736-598c-486d-8087-e5838d3297b4 phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:0af8e3b4-153c-4645-b6e2-58226deb1baf phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:621541a6-f150-4bf0-b7c8-80cf05856a9e phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:45e94821-53ba-49f4-b84e-c11afcf7f49e phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:fbf8e6ef-4198-4817-bbff-4d92effa5c6e phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:26516e76-445e-435b-b181-0ba535fcda20 phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:a2798ddf-b9f2-439a-885c-bd56e5a1e072 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:933d7433-1bd1-4e3c-baa0-9e39264b2137 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:63d856a6-b06c-41b3-8307-26fe61d27d62 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:12bab1f4-d7e5-4255-aec0-82bceaaee2f1 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:2dafbb04-69a2-4a8b-9ef9-0e4cd8c5acc2 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:83ab9161-deec-4988-835b-e055256dc87a phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c51bae81-3bbc-4f2f-9ea9-faedeaeacb3e phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:f04aac8e-315c-49c3-985a-4faed0c08de8 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:14627377-fdf4-4f72-998a-354c5ea0aaa1 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:3aa06ec1-7b3f-42f5-849b-b155e8e405a5 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:36e54cbb-5f41-44d8-b99c-d900f19ea1e3 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:9fe60a5b-a9bf-4856-925d-a00e83151e6f phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:546e469a-27b2-4a75-a3f3-56e973fff7d9 phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:43c0012d-ed33-4d7d-867d-deaa83eaf9c1 phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:aa6da72b-195f-4964-aad6-c20e488d151d phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:53ad4d8d-a0f9-4db7-8933-81f49f8fbed8 phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:064a1c17-b44a-4dbd-be40-8e24bac03bb9 phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c695a75c-91a1-42bc-a186-e621a599df38 phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:3c2a6303-00f9-49dd-97c3-076901c662ac phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0002352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:99b41527-f7fd-4517-aad4-514c30624491 phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:1125c9a2-325b-4e5d-bd0c-77a41fff2a3e phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a779772d-b1e4-4a24-8632-b0d6930ed319 phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:55199e05-497b-49a7-b730-19fab9f3026f phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:1efa9dd9-9f6e-42d5-821f-9480a8588d6f phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:8595a93a-78ca-494c-a41c-38fdfdd4836b phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:c46b5c83-8f97-4013-8782-0508a98b8b1b phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:0156f3fb-5141-4cde-8409-92c854f484ea phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:71fbb9af-28db-470b-b9d4-1329deef63a9 phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:448b2504-1ae1-48ed-933b-b1aebbcf253f phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:27d6b68c-569a-4743-8253-91ad7cb7dd9a phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:bf816327-5350-484a-827b-fd6d1d16429b phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:a75bebe4-d3df-4868-ae4b-1a60e231f752 phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:dcda7d45-53a5-4c66-b35e-4965259a85fe phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:4290871b-a955-456b-9a59-43ac336dad77 phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:41e4a693-2969-4b9e-bb9f-abdcc60b22e1 phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37054711 uuid:8fd0395d-0303-45ef-b974-b51b69f6f4d6 phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_disease OMIM:620428 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:af8a3ee4-637d-4738-aa80-24574f41ea0b phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:has_gene HGNC:26052 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37054711 uuid:7d9f4ea8-a1b9-4d9a-a95b-e142b37021b4 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0011274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:26d1e7e3-fd2e-4582-a0fe-f3c0a06c3b2a phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0032256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:98c5cb42-1c79-41a8-9bef-0776fb4743b4 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36736301 uuid:981e7748-75a4-404e-8b37-98960dfac8c1 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36736301 uuid:e3cef83d-4de1-48c6-b5ae-44bdb4ae0cfb phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36736301 uuid:d6acd015-9277-4b23-9f0b-61d5fe5c6499 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36736301 uuid:836a31b2-8ade-4e39-bf87-375284f080da phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:47722c86-d69f-4e12-bc0b-25bc5b5f6356 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:5d2832c4-bee1-486f-8ea7-314bdf55c6fa phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0410377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36736301 uuid:0bb1595e-93f9-440a-9a52-7be2cfb079ed phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0410389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36736301 uuid:0e1f7477-2673-4a61-bcf6-747165250506 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0410395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36736301 uuid:5b8ac872-50d7-440d-9f07-531f030bbc78 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36736301 uuid:285d0288-a4bf-4837-8bea-354eb842e553 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36736301 uuid:57ceaaa7-aa17-493d-a84e-11f22714d499 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0430108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36736301 uuid:55093105-7deb-4ee7-b55f-661fabee7979 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36736301 uuid:4ed4d0ed-fb73-477c-9840-7ab51bedc501 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:36736301 uuid:e83db404-a75c-464f-a512-c477bcd48634 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:4d9f0da2-eb2d-40f6-8c48-b574faed6c17 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0500265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:77bb0097-fa27-4d70-ad18-207d8d344941 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0002840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:c7e3fe09-cf80-46ad-b3c3-de0cf5696671 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0100721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:77311389-93df-4cd7-b87e-bf7506dfdd65 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0032261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:dcb92a55-032f-4b00-a38f-73b0c3700d2b phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:25f52764-e17f-45ed-94e0-b0d8b2d65cac phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:a97d58e0-05d0-4859-8502-df8f6046a12c phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:82bf84db-7802-4166-9e2d-f9aedac310f4 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:8fc99421-7bc2-4e9a-9b48-ff35634fdc17 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:1cec35ff-5be6-4122-9173-bc8eda598b5a phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:fffc9507-39d0-4586-a8ec-cabbc14ae7df phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0032283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:60073e26-994c-49ba-9bc0-84ba1d15ec74 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:3fe30a79-636a-4bfe-8aeb-b3bb7b071f7f phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:78796a8c-d439-4038-8b53-c0886373ceda phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0033605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:c46fafc5-c8e8-460f-b1d9-f9fff5811181 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0034752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:0d4306e5-53a2-48c8-9b18-fd920dbcb616 phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:1b63a0d0-3368-4e2a-b623-8569734595ec phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_disease OMIM:620668 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:36736301 uuid:98bc6f8d-af28-40f4-8360-aa44773239ec phenopacket.store:IRF1.PMID_36736301_P1 biolink:has_gene HGNC:6116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36736301 uuid:dbbc2076-18d8-4bb1-bb78-a60de9ab3dce phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0011274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:3c2fa427-4db3-4de6-a8d0-cc8ad0bec44a phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36736301 uuid:8a198a44-7831-41a0-8017-07edf5ece444 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0410377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36736301 uuid:a4d8a9c8-059a-44fe-a7cb-9eae81332e7f phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0410389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36736301 uuid:7caaa134-ac20-4017-8aa2-c2e951c0095c phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0030381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36736301 uuid:4bcec90f-806b-4dcc-9b79-07191bae7948 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0410395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36736301 uuid:6cc9ec0b-9440-4f74-98bd-0e7c9d154d9f phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36736301 uuid:16d00785-e430-4714-8b4d-e0e082303797 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36736301 uuid:ee9ccd0d-ab96-4ae7-9f21-63d6dc9fab49 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:c62fa78b-7219-4bac-94db-3d5f937bfd83 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0500265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:464b1334-b970-44ad-8a54-1afbd7213904 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0002840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:d027c89a-ca86-4bb9-a30e-6a4201317657 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0100721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:76905638-4562-4f8a-8cb3-00de530e28ec phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0032261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:0caecbea-8f1f-4352-89f6-3c89ced4ad81 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:40d5eb8e-1641-4289-ae02-ee0b89eaac8c phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0033605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:ce6e2658-4755-4c13-a4e7-f37445538201 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0034752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36736301 uuid:cba7b392-d459-4c13-ac51-dab054ac18b1 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0032256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:f60ae98e-8e72-4f24-bf52-398672da6fe0 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:339534be-2901-456b-a828-52d8d20f056b phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:867bb602-c30b-4067-a181-6f5803f34ba3 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:64a9c23d-cfe8-4cf9-a9f7-c2ea9b251a32 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:26b97bb6-c3f3-494c-aeb7-d3927833f5aa phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:df3f02d9-05a1-49d1-9436-43310ae60b6e phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:33559fc8-4417-4729-846e-a6687742f9a7 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:376dffa0-a542-40d8-b648-4ac823dae9d0 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:ca20498c-fbff-42ce-8375-71e8e52d6b31 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:e53af319-a05b-4b04-9e2c-b503f05c8527 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:ff5448d6-1ead-45a3-aedd-54020ca922ed phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:f6f022fa-0b45-4a92-a9da-daa4392c1350 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:f28af49b-3713-49bf-92f9-957de765a3a2 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:85554339-ccbe-4da5-b691-f5168ebccbe1 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:798e57e9-f8f5-429f-aa73-060ec2a7a38f phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_phenotype HP:0032283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36736301 uuid:533aba6b-1940-465f-9171-6d53fe1ed021 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_disease OMIM:620668 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36736301 uuid:28c28013-c07a-49f9-8990-425997f062e3 phenopacket.store:IRF1.PMID_36736301_P2 biolink:has_gene HGNC:6116 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36736301 uuid:eba93841-b082-4955-925e-a0d9f37f34ce phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:684e7fdd-ba55-4be4-bb8f-0088867be197 phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:597b5235-2322-458a-a4ba-5880c89cc2ca phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:fcc6564f-6398-47d9-a358-ecd082db3d7e phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:ffa43009-f483-4314-8ef1-7f2a691654e7 phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:eb229262-30af-45fc-b497-c29982d9be2b phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:04ee3204-c4ab-425d-8bdf-ef34d87e7f19 phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:f1e0157f-3212-4057-9222-02385da00689 phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:7de611bb-cc5c-44f2-8457-177ed5b082e5 phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:29122497 uuid:db2cde3c-5dd3-4425-85ae-9a16675536d9 phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:cd05aa48-175c-4c18-9abf-036f3e6157ae phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0030891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:a2fe0f9e-8f3f-4213-ab04-2cba6f0d957b phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:fa776d63-c15e-4303-8939-bcbe94351255 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:bcff3b0d-7197-4775-ac12-02740ff68342 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:018e0ad5-b0a3-4973-b8ac-64405e928696 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:db9cd85b-26d7-4bef-999a-06b7017f0b18 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0031960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:387f4475-4315-438e-9234-eb3f078bc5b2 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0030724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:6c10ba5a-a16d-472c-be5c-7d30b3cd4ccf phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:ddcecdb7-33a4-40b1-b487-8a5b0c090f2c phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:2c36d238-e061-4b5a-affb-1db891fd7ef0 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:aa7ade69-5c6c-40c6-b608-3234f5aa6a70 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:47cfda54-8cbd-46ed-9f00-c76c6ea079e0 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:1fcdfa13-d2da-494f-87ad-d353fbd972d3 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:3a6845ca-6382-4fdb-8874-ce3589c94144 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0004396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:20ee04c9-3c22-4757-b112-6fe2084c593b phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:b728aa2f-5105-49ac-a9f0-58cd1308334d phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32424628 uuid:ada2d48c-519b-4f99-80fc-23c37f0ddf44 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:32424628 uuid:237e8fd0-2b26-4d76-9034-ae612e5db4c8 phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32424628 uuid:8dce158f-e950-4062-bd12-ec0eb4c711b2 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:f423249e-5190-41f2-bbd6-6dd73e2011bc phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:30d6ffdc-5b6f-467b-bd9b-f584f10c0fb6 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:f3924ee2-67bb-48e2-8f7d-0c4b068e8ede phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:27fd5b69-23d9-46fb-b2c4-b626e3695f03 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:77b76e9f-5b50-42b4-9963-2c9acb782900 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:a4a389f0-821e-437c-887a-48ff8303b39b phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:3ef454f7-7d7d-4a4b-a3f8-df873b00b622 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:283bdd3a-ae45-4683-a12c-ae37060d2b67 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29122497 uuid:4cf1045c-556b-4861-864f-8b201746ccb7 phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:f18d73e5-1901-4953-9d32-3ba7aeb14ff0 phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:a9640276-c64e-49bc-abb2-692faef1b429 phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:4c657fd0-3069-478b-944e-13ea1e7a1c5c phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:4ab3cb25-735b-416d-837a-f06a26ba80fe phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:50de4ad7-e5dd-46d6-8e0f-fc06d928dabf phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:1051844f-c0a7-443c-b181-fa202a5c7a40 phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:7d701434-89cb-43cb-b340-eda990190123 phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:eb16b392-94cd-40ca-8f1b-3a7fa3dc029f phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:e20408ff-e293-4365-9eb5-08a254127839 phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29122497 uuid:c159623b-23fa-4973-942e-92d214b1e3b9 phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:db24d218-a6e4-43d8-8cf7-b031578e7e1a phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:a11c110c-dfb4-4408-a899-6327b18d726e phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:144f50ed-a753-49b8-ba61-3c7d035c1a5f phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:4c0bfbdc-bf6f-4159-a232-36f3f9fec6b8 phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:a85dd1f1-aa71-44f9-8a65-41c8ab9d4ba8 phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:09a8580b-a29a-4275-ae8a-918ab87f798c phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:272744cf-6c03-4fff-9395-1c8857c5b212 phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:11c9cf46-3843-4257-95da-62f89cea6872 phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29122497 uuid:e320b4cc-a9ec-45e3-9bbe-1c6f43a26431 phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:b04b92ab-659f-4c0a-9e68-3b85c1c9f796 phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0030891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:de910b6d-37ef-440d-b2b2-701d23aa0c3b phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:3853f02c-7a97-4956-884b-3b211f066cb3 phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:825a37a6-534b-4c78-a6c5-3afa8ae12b46 phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:5cfe7e3b-4c9f-487d-b2cd-6cad1f9b08cd phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:89201d8d-4d32-4af3-908d-eef710d45a4a phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:ed359d93-ec2d-46bb-9a1c-b029e981524f phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0002418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:dd5a55e0-61b1-49ba-88b8-48b96e6db000 phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:58aac95f-2ab8-41af-86e6-e6961dee402e phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25539947 uuid:2b81cc77-b9b3-4bc0-bea7-d6596067461d phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:25539947 uuid:285bb0ca-efca-4204-ac68-93e3f94d6e81 phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25539947 uuid:9b8156e9-e978-4d91-a73a-9f526ddc4d24 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:07e2bab7-a1eb-4414-bf01-c1cd0a7d78b9 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:74c7b3e8-b61e-41b1-867b-3681e45a294d phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:e58922b1-9c83-4703-9a72-a90e0d42a6fc phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:c1b573f5-c3aa-4cdd-b488-9958189c54aa phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:cc144ab9-d7cc-400a-8b86-3b0ab6ff59a8 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:f8393596-6e0f-493b-ac75-eeb83fe0d0cf phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:837460bf-e1a7-4b81-8a87-041e585caf15 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:c6f6c1b2-8666-43ea-945f-c087cf131768 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:82da1593-99d8-4872-b88e-de92b6b6a511 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29122497 uuid:e730d15c-fe51-4e98-a274-187b62ae4095 phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:1e738c76-a935-4ffa-9e77-87f61b3fb07e phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:b934b68b-826e-4c77-b8d9-2902e4c84ade phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:5842cded-f612-4f58-bd60-b99dbd33df83 phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:0cde4061-3445-483a-b9ec-4a7d3e2a2bf0 phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:4e6c75a5-0b5d-4f27-994f-f2ef817fd820 phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:c0e0f3f7-29c5-4dd9-8be3-34b653d77a4b phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:53f0f2a3-64f8-4e36-826e-6f87839b7ea6 phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:25b5bfc1-630e-4b2e-b82d-72f8186ee780 phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29122497 uuid:3754efe2-ef42-4d48-82ed-5ca52e99b7c4 phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:37d3c571-3a49-4255-b4bd-3126a7f3bbca phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0500230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:88e84f71-e2a9-4a37-8231-afa07ee93757 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:3c6a4a0d-c839-4610-87a4-0127247459bf phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:f5cd0da1-f6d4-461c-a1d1-b8cc1e543cf2 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:511906df-9248-4319-b42c-d03618c68c16 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:2f94750f-2697-4887-9df0-eca626e58f19 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0012512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:b1aa5fb5-f854-49f6-9f9b-33d442cd4bb0 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0040288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:979bbda7-1df7-4066-b5ce-e78f3d9f46b2 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0003108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:873dd2dd-1fac-4f97-acf0-d9593374132f phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:2e9ec4de-598c-4f98-ba84-fb75e75bdb26 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:2fca4b85-289b-407f-95d1-63bdd2ca44b6 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:e4134fcc-ab67-45bd-8c58-b11ff0b4d738 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:ca3e59b6-74b0-41e3-9ee3-faa32618bb82 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:1f32fc4a-29c8-4052-ab7c-c417300e55f9 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:96672bee-0c9e-4041-8386-39b9a995d582 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0500200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:ac2adfd2-75f0-44e9-8d21-97fa78cf4e60 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:1f2bf36b-355d-41ab-8e19-2ba8a13ece4f phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:e724e912-792b-4d2c-a35e-dd946b1333e8 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:681aa8e5-bc0c-4ef9-abd8-0349ada72600 phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29297947 uuid:6d60541f-e187-48f9-b609-59d01b9dd56d phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29297947 uuid:ad246f2a-98d4-4c28-bbc7-41eae3684fe0 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:ea58b94d-76f7-4df0-8fc4-1e327c523b22 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:5a2adc59-5ce0-4902-9cd2-81dcd03eb50c phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0010621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:59264d67-0540-494b-b169-582b733675d8 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0008969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:e23e622e-f4bd-4508-ae30-03506fb6e794 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:a7aead0b-9165-4e18-982d-2b86263fb6bb phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0012512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:c9670021-4637-4a14-a906-33eec5ce6130 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:3ed21a13-5aa0-4880-bf0a-192b992021aa phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:aecf4ae1-a139-4f9d-8d47-1f2e6764b490 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:f7b5778e-415c-466b-846d-b9026c480105 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:0f7717ca-3efe-449c-b083-584870bb6d0a phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:f91735bf-8926-4d82-adcc-3d40cb9dbd7e phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0010044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:5a0d678a-2f61-491e-a682-d9a8a0e1c876 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:a1acfd5a-cceb-4a82-86ef-bd4d4260e337 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:2a2ed54f-9317-4915-af2d-888efca8a76c phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29297947 uuid:4eca3cae-fb1d-464e-9c4c-a81d08d98e80 phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29297947 uuid:44f100ee-9098-4135-b695-7ba78540ddfa phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29297947 uuid:a03d8181-c6f3-4042-aa74-e8c01a43f189 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:0bcde4a3-8e2c-443e-82a4-711eac855522 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:c168bb55-b2bc-4318-b8d6-2f64eea0e7bb phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:fce53a86-c8c0-4d32-8d27-973ffac64a5f phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0002518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:8f7e0d4f-3a3b-4811-86d4-94b2c8e23da3 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0033834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:cb1791d0-1fa2-4333-9a7a-9185e9ff1760 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0001317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:17914b4f-d314-4608-8c46-00196f9d1ad9 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_phenotype HP:0003552 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31279336 uuid:dbc97357-d77d-41eb-805e-835e18a9fde9 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:31279336 uuid:6e5c3a1c-124f-42b2-87fd-c61174c85c18 phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31279336 uuid:034a1c5f-7900-4b39-9a82-c3be67059689 phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:35fbabab-4111-4ab1-9632-f39c91a378be phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:dcea9df1-4671-4dbb-a99b-9b0609e2dbcd phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:4e7791de-2b39-4a5b-9565-076217a6e1da phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:b8430df4-b90e-4797-8c9a-20b0d2e2b45e phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:4ad61084-d8a8-4751-b573-868be4c55773 phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:65b072e3-3715-4ec8-b57c-8e0dbecb5f30 phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:e6865a6a-601e-4d19-b48e-1a6854b287af phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:203ed6a9-b197-4693-8373-4b18ee1d06b9 phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:29122497 uuid:127a271b-b0c8-43a6-824e-32d0b0dd09d0 phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:7535a986-5cc7-45bf-bd6e-a7078b1f36e0 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:1e170589-2de5-4af5-a403-e25cdbfe8136 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:37fbf369-25e0-445e-b03d-4b67355a39c5 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:99d23823-577c-455f-85da-840c3bbd7ca0 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:6d5a9a1e-6b26-4dbb-8ea0-0d7a0568b432 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:47a0e26d-6796-4c21-a22c-6a7c2c59dc35 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:249a22ed-17c1-4aae-92d1-94763ab1c677 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:b4522305-df2b-46d8-9330-4618dc4f29a7 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:82769212-851c-4bcf-8abf-c29ad5e0739c phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29122497 uuid:550c3384-2244-4143-815d-c00a49e18de7 phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:8167005d-890f-479a-b003-9d267e251674 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:05d76ab2-6e54-47db-b163-47d99290f8da phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:e360b440-2149-45f8-a656-a3e849d22eb0 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:c8e5e33d-9f95-4034-8795-95a3e63b4733 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0040272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:71cc05f0-ea3a-48c8-90aa-e58dce1ec1c3 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:077cf5fa-e203-47f9-a541-3ca2d3454378 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:86ac5169-2207-4290-a957-6b7dd6c0948c phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:0d65c680-de1e-45c1-8057-502c7dee51d3 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:8ee05b64-876d-44db-bc75-7ac9d137734b phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:b5383922-0d41-43d3-9c3a-35b980a34ebf phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:29122497 uuid:ddc57a54-ccf5-460f-b60c-6b93f94443b4 phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:d08755ce-d8ed-4e4f-903e-546b592dc240 phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0032615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:cccb6849-2929-42ed-a361-d36735bd2c3f phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:69ad0ed4-43ef-4f37-891e-c76e1ccb130f phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:77071f0f-58dc-4805-bb28-88c02cf030ab phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:fb1622db-7125-4e9d-88d9-bbf19ff40fe8 phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0012502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:acc3e3dd-cc4e-4a29-8809-e2afdda67100 phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:5badc39b-b262-40c9-8b39-86f9759bda92 phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:68f30bf9-a51f-460a-a968-6f739999ab98 phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:4a44bb94-19c4-4bea-9b84-f39862e5670f phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0002538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:fa6603bb-e153-407c-a1a6-764612d7794d phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29359243 uuid:088f7b94-8812-487f-ba28-901b7f0f830d phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:29359243 uuid:bf517bc3-3595-4715-874f-eb2fc3be08ce phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29359243 uuid:301c8777-8f4d-463e-a5f9-e2707f21ca28 phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:993a1e90-29e0-41f9-868e-778b1873622c phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:ca97cd7c-cc86-4706-9fba-43d83988f7c7 phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:fc9fc20b-fa8a-4f9d-8854-77b25b6d6e3a phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0040330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:e697d53c-2e2f-4d0c-beea-b6fd7b7fd538 phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:932800c5-59de-4b47-b7e1-a2ad8617e928 phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:fa797ae6-7106-46fc-bb53-6455d25d2503 phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29122497 uuid:d1215bfc-6a94-4b52-b66c-6391e978b352 phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_disease OMIM:616370 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29122497 uuid:4b5bccc1-abae-4eb9-9a30-bed36eeb99fe phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:has_gene HGNC:19857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29122497 uuid:f78b9e54-1d67-40a1-b623-55dd7b5e0967 phenopacket.store:ITPA.PMID_12384777_Family_6_6A biolink:has_phenotype HP:6000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:7cc1f564-4100-4b39-86fe-6f61391a4466 phenopacket.store:ITPA.PMID_12384777_Family_6_6A biolink:has_phenotype HP:6000511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:7cfa27c7-5125-4f80-90fc-11ee3ed8f9ea phenopacket.store:ITPA.PMID_12384777_Family_6_6A biolink:has_disease OMIM:613850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:58010458-49ef-45fd-93ef-1bd14fc932b4 phenopacket.store:ITPA.PMID_12384777_Family_6_6A biolink:has_gene HGNC:6176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:c1245d7c-ce9d-47af-a57e-d4671553ac58 phenopacket.store:ITPA.PMID_12384777_Family_1_II_2 biolink:has_phenotype HP:6000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:2bbf0e1b-6310-4605-8f1b-31cb749752ff phenopacket.store:ITPA.PMID_12384777_Family_1_II_2 biolink:has_phenotype HP:6000511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:4e0289fc-9766-461e-a7d2-eac5ab4560e8 phenopacket.store:ITPA.PMID_12384777_Family_1_II_2 biolink:has_disease OMIM:613850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:aace6c25-dc29-41e1-a428-a65d553a679e phenopacket.store:ITPA.PMID_12384777_Family_1_II_2 biolink:has_gene HGNC:6176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:8e84f830-d18b-4db8-b9c6-353c779b43ea phenopacket.store:ITPA.PMID_12384777_Family_1_I_1 biolink:has_phenotype HP:6000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:875889da-f715-44b8-9c33-2a1c62b259f0 phenopacket.store:ITPA.PMID_12384777_Family_1_I_1 biolink:has_phenotype HP:6000511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:d590c86b-61c7-45c5-a9d0-944aeba13f19 phenopacket.store:ITPA.PMID_12384777_Family_1_I_1 biolink:has_disease OMIM:613850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:d25d1159-bcf7-4f67-ac1c-c27b14dca76b phenopacket.store:ITPA.PMID_12384777_Family_1_I_1 biolink:has_gene HGNC:6176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:86b91e00-3801-430b-a9da-910384173ee3 phenopacket.store:ITPA.PMID_12384777_Family_4_4A biolink:has_phenotype HP:6000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:b4808300-9cd7-4726-b193-e6f42182af4a phenopacket.store:ITPA.PMID_12384777_Family_4_4A biolink:has_phenotype HP:6000511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:96c5dd67-1f4a-467e-872c-1c16049a32d0 phenopacket.store:ITPA.PMID_12384777_Family_4_4A biolink:has_disease OMIM:613850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:35328904-4cb5-482f-bd53-ceacb1f86cca phenopacket.store:ITPA.PMID_12384777_Family_4_4A biolink:has_gene HGNC:6176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:89db380a-d137-4757-9d04-244432ba8610 phenopacket.store:ITPA.PMID_12384777_Family_3_3A biolink:has_phenotype HP:6000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:fe0a836b-a08f-45a1-a9af-dd88d43a8563 phenopacket.store:ITPA.PMID_12384777_Family_3_3A biolink:has_phenotype HP:6000511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:1efd96e1-f3a0-47a8-a927-b9c82763e033 phenopacket.store:ITPA.PMID_12384777_Family_3_3A biolink:has_disease OMIM:613850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:042c97d7-d0fc-420e-8fa9-09a76366fc98 phenopacket.store:ITPA.PMID_12384777_Family_3_3A biolink:has_gene HGNC:6176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:6dc396d8-df58-43ba-b887-e777c36e628f phenopacket.store:ITPA.PMID_12384777_Family_5_5A biolink:has_phenotype HP:6000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:467c3eee-3778-4828-ab41-d1a55fe4e871 phenopacket.store:ITPA.PMID_12384777_Family_5_5A biolink:has_phenotype HP:6000511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12384777 uuid:fb7caf6f-5c4b-4a64-9213-ab0ac1bae057 phenopacket.store:ITPA.PMID_12384777_Family_5_5A biolink:has_disease OMIM:613850 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:9548a184-52dc-4908-b231-0901b11b3810 phenopacket.store:ITPA.PMID_12384777_Family_5_5A biolink:has_gene HGNC:6176 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12384777 uuid:4f7f5f14-4637-44ef-8a81-d9b8391ba2ff phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:41cc9370-e585-4492-a03e-d35627717f68 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:d4063b59-b9e9-4604-8ec8-4fd77929b75a phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:7f356f82-70b3-44b1-a4c1-19aa3c1ea48d phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:73ca7ea3-ef42-4a02-9a91-23be10d5416d phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:b8414941-b060-459e-b28b-5be032011c71 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:31831f47-02e3-4edc-b3ce-fd67ebf229ba phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:526f96ee-3060-4f44-bde3-30b610103f41 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:c2c61e0b-c2eb-4e7a-b886-28697a97a264 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:b76fefd6-648e-455d-9ff7-1083522e8bd8 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:f6274b3b-2a41-4f7f-9bba-4722442f622d phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:3dc05051-8052-46b6-8bf3-6a5a62a7e5ff phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:070c34bb-ddd3-4600-8131-99b844d66122 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:96c0c4c2-9bd4-4b7a-885b-e4e9a21989dc phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:a6ce6ff6-25b9-4fcd-8705-0fcd05562d81 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:6d0b945e-4fe6-473f-add1-8776db1b44da phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:ffbfc651-67d8-47c8-9d52-d726ba364bab phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:74ba25dc-4b84-49fd-8cbd-e0908d8f2140 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:ee075c32-d6f5-49c7-a37b-723f2ffa376c phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:cb10e3f7-807a-40c7-9508-a9e7b6f0d7a4 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:8032ef56-8bcd-42fa-82da-576625636f77 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0004428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:734eaede-0e19-4b5d-8e16-f2c356bfaff4 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:1f3e6305-2f37-40ab-950b-b17e1b022522 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:9cf5d7ab-fb96-4576-9214-6b0dc16f6ff5 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:7e01ecff-dcc3-4988-8aca-f34465f6454c phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0011094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:c2052984-7f98-460b-94ae-6cfa6af312f5 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:d7dde9ba-024c-4099-a01b-12e651c93821 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:42caa619-7afd-46f1-8b17-455c1eac68c9 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:17ec5df0-7e41-4d82-8589-ee797325fde8 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:ff67fd5f-0923-4e48-9755-85aebd347af9 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:c04ddcc3-eb80-405e-9d23-d46491b34f07 phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_phenotype HP:0000570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:860e57ab-44d5-4889-84c8-e30c6421190c phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28620721 uuid:ba819d28-1871-4ad3-b8dc-a79aa93ae4cc phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28620721 uuid:c44ac228-a1c1-4b55-a2fb-29aba228abb8 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:39177731 uuid:5ce137e1-ae08-4954-84b6-ca063334ec98 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:39177731 uuid:39e79c57-6af5-4ef8-907f-f9e6dc762dbb phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:39177731 uuid:3f4e2221-f8b6-4511-adb1-929d31c591be phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:39177731 uuid:4086a50e-baf7-4731-87b9-a359418f89e4 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:39177731 uuid:fcc3af4e-f0ea-4561-b9a5-0ccc164f7551 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:85969472-94b6-4c23-a551-fec5f916d030 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:fe97c9df-ff8a-45c5-b61e-a014a413c69e phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:cb6e26ed-6ecf-41f6-8430-e175e93ce345 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:35a756da-c4af-475e-84e5-91341037691f phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:8a6faa28-74ae-47cf-b203-17f346b146e7 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:93172d7d-212e-42ce-8de4-2c0fed61f6c1 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:46d00f39-aaff-4f0a-bf1e-78b722f030ed phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:ba303a44-0e5e-4d4d-85ae-c9fb7b2d7ecf phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:7f31d579-616c-4694-8361-ba789f949c59 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:2d4b4000-55fc-454a-b881-09b1c864f243 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:ab106755-0e9d-4d3e-a81b-07459cffb142 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:39177731 uuid:0a961c70-911f-4ef0-9540-ad944a6190d2 phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39177731 uuid:a1bc7e18-69f5-44d3-b9c1-db585fdb4dbf phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:27062503 uuid:ada6aabe-bda3-457f-8d45-8732368fd386 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:5d2395cc-b256-44e8-b23c-be348ff7f74e phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:ca604b0a-b190-42dd-b25f-8fab0adb2ccb phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:def84648-a05b-45c2-9552-73026978c9b9 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:36f96a76-7712-4fb7-899a-71f5aed4151a phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:54fa5073-d8d3-4fea-b207-158e91128be3 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:9f31728c-7596-4a9c-a9bf-b29939380470 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:24049fb9-6f5a-429e-b940-77c878d640e2 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:4b7e5a30-a00c-4adc-8073-6d6271be10c8 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:df69162f-1e1f-4a45-86fe-7942d05af8b4 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:e2f8a387-c2df-4897-b35d-3bdb1895b2a9 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:b910d4bd-8eb6-4be8-b4f3-16ead8bbe2f1 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:d8f82066-163b-4a57-a785-287d35ccda8c phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:54d058e1-3a07-4bec-b200-a262cd22d27b phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:0fcd4d7b-11b0-4f09-851c-2f29dc250b9e phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:9d928872-2d56-43b4-993a-6d873fca4112 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:8a4ef6cd-2fc3-4f05-a9b9-e409d5509171 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:7cbd463d-b6e0-4da6-9b64-266204ce00c0 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_phenotype HP:0007369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:0d2353ce-700b-41e0-8eaa-6a61453d7c1d phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:27062503 uuid:5729d821-7e9a-4357-bebf-c88f19e51296 phenopacket.store:ITPR1.PMID_27062503_P4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:d23da609-4489-4584-8037-f3c034ff9fb4 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:cfde4794-3e9a-460a-9eff-4046801619e8 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:ed440a7b-3213-4c5c-8ee8-a49b8876b11a phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:52466e49-10fa-450e-a8e4-c18ee6a72142 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:6fa3283c-1557-4f20-ab6b-0d34dec7778a phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:86f6f31e-a6f6-471f-9224-2d5d57bfef21 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:871d7546-3eee-4ad1-9141-4cbb5e97870c phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:ccbaa7f1-22d1-49f1-addb-699c3e4dfdc6 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:6d6d4175-8a61-4cb4-8836-561aa713821e phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:28b48506-8e6e-43d5-85b7-38e1a8c8a589 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:9d963135-ed65-41d9-9106-b87d97ac578d phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:bacdc985-885c-4429-88d7-977cefd038d6 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:ed5fd5aa-8eda-43ac-9630-6cc53ec6a070 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:0ba67931-867b-4482-96ee-bfec5772f401 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:2ad6dab8-9f2a-4a54-a1eb-19170c22df2c phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:32c101fb-05be-4ad0-8727-0193fcc16e1a phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:a9cea15b-7bcd-4585-b02c-7d1a086db8c4 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:6ceeaf5d-3346-476f-a446-945930030306 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:d2832b6f-a55c-4f18-9bef-4059b43a77da phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:ca4cd08c-2fc0-480e-9894-b8693685fbdd phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_phenotype HP:0007369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:53939c9a-4c04-4c41-ab33-945735e2bb44 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:2d58569f-a054-4981-b756-ea94d2845820 phenopacket.store:ITPR1.PMID_27062503_P3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:4c99685c-c9f3-48c8-aabc-e93a8207283d phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:21367767 uuid:3432b91d-b2be-490e-8991-05b1e2769e4f phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P74Y infores:phenopacket-store PMID:21367767 uuid:b62ccba8-3f29-4aca-a399-86059ba8ea14 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:0f8a6393-eed1-4ca5-b7e4-e6b3301f0ad7 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:e6021914-8c70-4485-b9aa-9cbd24f7b046 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:e59c9576-81ec-4274-8b67-e07fd8d378b8 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:194e0bab-9f9b-4f88-9eba-dc8b9e5f8095 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:f2a55424-8f2d-4885-acbd-d088b8d95ecb phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:b013d054-148f-491b-ba34-79ab94f73ccd phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:dd65016b-a139-46a5-bd7a-04fe3d305db3 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:165e7a46-e496-4789-9d8d-2cbe6a21f7ea phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:aa5e1b30-8f7a-4f91-9520-e7fe4115e387 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:4bb92832-5b69-43c8-821c-5b6e4aeee743 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:7bf8c9f1-7868-4809-a6be-acd55c59b557 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:48eae186-3b9f-4174-8025-11308747b5dd phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:fee8df7e-d66b-49a9-96f5-d931a38d6323 phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:901caf0c-31ca-46ba-b4a0-27bb9020ba7e phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P60Y infores:phenopacket-store PMID:21367767 uuid:a6c9c534-9cd5-40fd-888d-a08c0dc6a35d phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:15549ad0-8be8-43a0-8c43-62e6bb410016 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:21367767 uuid:8f10211f-7b8d-411f-b387-e353c9d05b54 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:0b0e37ad-546b-4e51-9d1c-49119a903478 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:44e22cfd-bae4-45f6-9e72-6b73ca6662f1 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:79441896-1532-43c2-b1f7-c46f1986bb5c phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:dbb417e8-1e05-49cb-bce4-dcbbeb849beb phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:5b7fe500-83c0-4a5d-94aa-4567ab6f7921 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:c4105c49-26e1-4277-a72c-707e00023fb0 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:3baced42-69d9-481b-b0de-3d75c95e9a5a phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:44662d44-a563-4cce-912c-e81b98fbad65 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:afe8b4f2-6a05-4efc-ab08-21810af7619e phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:ec950912-4fe4-4a49-8ecc-499d9caecf75 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:64f195c0-69ca-4c1c-9817-a686d7a25f56 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:c9d9119c-b0dd-4a7d-bf3d-cba9a8a7c916 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:2cb064cc-e483-4c26-80ee-a2c9fd24e792 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:24583ad1-b019-4892-8263-f7a6ed4bff50 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:ff34f957-08b9-4d70-a516-a591b0a5ec2b phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:21367767 uuid:d483a46f-5dd8-4ffd-9a2e-f09d79fa3924 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:103ca314-57da-4d93-8d73-7525f1545117 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:22986007 uuid:9bffab6b-740f-4b0c-a752-534f3b2e59ac phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:22986007 uuid:4662ed4d-b8a0-417c-9e7b-7f59478feeb3 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:45ab0ab4-1cc4-4b41-a6a4-1963c9994a9d phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:ce8bd948-18f6-4b5a-ba34-76be45c10536 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:99c782b9-7554-4ab1-a2cb-a5e4056ddc1b phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:b5b3a636-d294-4c1f-988d-8b069d5d013c phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:804f4358-dc0c-4155-aab1-cc62720485e5 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:5e96529f-5820-4572-afda-f0c0d495b520 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:502d8324-3106-4f3e-bf27-da6a7bb74753 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:390ad008-fdab-4357-8999-58b95e47e81e phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:f66a789a-6881-4fcf-b8ff-be7117bccc1c phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:35b3a0c9-9f16-4298-813a-032377cae2b1 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:f13ee0c2-5970-46a1-a585-ab53c3727747 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:6a537080-1219-4478-8222-cce074b90ccc phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22986007 uuid:b7f66f60-591d-4d5e-b045-a84c213bb7f0 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22986007 uuid:1f1859cb-42ca-49e5-a786-a231b285fd44 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:3f172ffc-5d19-4118-a8ad-e018ecbc6175 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:bed3d0e7-4ce5-434f-86c3-d5578f0e0dfe phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:0c533189-7e05-4588-af56-ed03d990e749 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:6359d8c5-634e-44c6-b01d-26e5875951f9 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:25a3cf5a-bddb-407b-bf2e-4facd535bd6f phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:0c9d7a05-4143-4e60-99e4-686ddea9e13d phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:d21f9167-df91-4b4c-8354-21825363f97e phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:682b86a3-11f4-47a2-a91e-67a2c3e64f70 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:189fd55a-c1af-4ed0-bea0-7599f68fa025 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:6a6d7e65-21ff-4c11-a172-c9d1603aa3ae phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:b7b379f2-f0eb-44cb-b535-9c6a3e304900 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:a412313f-5ce6-4f2b-bed4-a62de6ab10c8 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:ece02d53-fc97-4c6b-be64-964dd14b1d09 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:4cd1956c-a33b-4ed2-a569-ac37bf7dee27 phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:ea4fdf00-f9f0-48e7-a7f7-6b62995c84db phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31632679 uuid:d38bc5a2-8a98-4b9a-a3b2-7385cd64635d phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31632679 uuid:9a3e7b92-4fe3-4c98-8d87-9e9bc7021448 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:9dee8a6f-3c5d-4cb4-9dd7-10a82e556c85 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:5c84132b-d408-46e7-955e-73bcee3d2fbc phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:91cedd9f-6d11-458a-9226-ed1a76234014 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:fe057906-b40d-44a5-b469-f4794b9f4bcb phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:f47a14e8-445b-4bc6-b8b1-115dfea6be4a phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:a2383afd-85f1-4d81-93ff-b22a8def0e4c phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:c50ebcc7-e881-4e84-a15d-66e66cce1ed1 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:9ed3bb09-910d-43f3-ac0c-c367caabdf6a phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:d4e4d0a5-bd14-4167-aaa7-1cc99922d510 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:193581da-8bc4-42d7-be92-e7cb6735eff5 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:cdccca95-0b29-4982-bcf0-5f689acd150c phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:96588329-6ac7-4da2-bb07-6a2aee90f638 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:22d066aa-b048-48c3-b6d4-d185bf64acbe phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:ea53f146-72a6-451d-8c07-14fcc5bdfe97 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:355a6a7d-f71e-4792-91cc-e06581d46cf8 phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29925855 uuid:a753feea-096b-47f4-ad49-39578d92f6dc phenopacket.store:ITPR1.PMID_29925855_P5 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:2bfd1336-4f60-43a1-9dea-d28d579b600c phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:e5b6791d-56f7-4098-aef3-06e5dbb58d86 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:5968897c-0d95-4d9a-aea0-3457d3848a19 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:6aa2b863-3fdb-4239-8b0f-047676f5a2b8 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:2025c6de-31c9-49c3-b852-47738e9cdede phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:817a3319-dae4-4517-bc9d-83d36646a93c phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:5d92e1a0-7a1d-4fe4-9981-6a5f19340e80 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:b5397896-f093-4e4a-895e-ffb200a12134 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:42248dda-2444-4d65-809c-52549f16807a phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:4d58097f-a474-4893-8fcc-c5bbe7dd4844 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:9653b357-0d1e-4e42-b1bb-6daac1832c23 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_phenotype HP:0040129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:b07d1e56-4fa0-4b2d-92d0-d20e508052f8 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:3547a67d-b1cb-44b5-aa85-25500dce9396 phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:6f35b435-daa6-4598-81fe-d60da389585c phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:7bb20319-2cb8-4f68-b798-d701d0097680 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:cb4b33a5-36ff-4692-afcb-17d3431907b7 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:68c7d79c-02b2-4da2-bd19-4fa7be5b659b phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:8e7389c4-0bb1-4261-a0e0-ceaffeb41b10 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:3d854a16-9d8f-4823-821a-6124ba379ce7 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:89d1caaf-cd1c-4935-9cc0-49d3da36a3f8 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:f9cf90ff-ca4a-4f73-8e71-e5fe245b6fa2 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:632ecaf0-e637-4395-b2c1-eb61053b2798 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:51613a9f-f65e-4417-b44f-3f38e851d8a5 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:59005919-a5e7-4146-889b-ef889af11d31 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:ff6de53b-d3e2-49e0-aa81-cc13efdda0a4 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:8dfd906d-bebb-47aa-9f6d-b554bfa62c49 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:ea38b473-4f92-445b-8975-b8ac06c0384d phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:1567a739-89ff-4b7b-be6c-c25b71775fef phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:2141812f-7649-4c9e-a15b-4bc26a62ee73 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:4a9f9deb-c7c2-4c35-92b4-fa7a4e72c404 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:a378ee0b-c722-4a48-998d-e98ca4789dd6 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:20082166 uuid:e3d5a7c4-1892-4057-b7b7-2b8ab820efaa phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:1f23d1ae-19d7-4466-977f-9d6706871abb phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4c0d6f48-385d-4bc1-b7f3-440199b0b496 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ad0529d8-646d-44d1-9e02-b6c07f046fa0 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a572560d-11e7-41c7-82f4-5efcee1632e7 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a169000a-8a97-48e9-bc45-e2dd6ce128f7 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:41d51174-3031-4883-b0ec-2daceb22453b phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2daad20e-53e1-4557-9674-6df49cb456d4 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f13ac9da-4428-4018-bd61-c7177ed9b828 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2d544696-0bd2-40ee-b7fb-3f8eb9c990e7 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:85e42842-f020-4221-bf22-a6f11a894b89 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b88d5527-98b3-4000-84c1-92d72d1a6340 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dd7649ae-c4ba-4bea-873e-a98ad39ad9a9 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1b914247-56b3-4012-95d1-a00ed4feedb5 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ceec5eb2-a142-4cdc-af38-d1dc3d57b75f phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:9eabb3c7-5eec-42be-a289-7ee9c7b2e4d1 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:e534e38f-111d-410e-8b70-83d784efac0d phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:fccff1d1-9ea3-461d-9e43-94db450f2bde phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:d6b98c00-f411-406c-857d-4125d35a85b5 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:c28d3a62-2f54-417e-bf0e-efbadbd475c8 phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:19d91cbb-43f1-405a-aaa5-379ea8da677a phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b57eee3c-3467-4c4c-92d5-01d0151585f4 phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:29186133 uuid:dd3864ae-d8a2-459e-abe5-bfa4ecd553b6 phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:29186133 uuid:ed4679fa-37f8-4711-8ecd-5ee8159abba3 phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:29186133 uuid:4d449d30-f2ed-4f8a-9326-8474d24a3c13 phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:29186133 uuid:d863ea59-b0da-4fdc-b4f5-5c50091f7f65 phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:29186133 uuid:3d1abea4-bc3c-40d9-bcfa-5fc24896e31a phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:29186133 uuid:53481b4e-3e0a-429f-a86e-c486238f1260 phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29186133 uuid:a102285d-fcd1-46b7-bd2c-a33dff9a05ed phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:85f6fd23-aa91-464f-85d5-37f6d25da20b phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:9f78e01d-38fa-4761-8ef0-67a03150f5bf phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:b0d68e76-82d3-4bb0-9eb9-3afd83f9a710 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:8b165acd-e196-46e9-b83d-c2407e54eed1 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:ad6fdda1-1d87-4ef4-a7d7-df970c0dcdf2 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:2d735322-dcb4-4836-852b-013a91b9c204 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:be4b0a56-d7aa-4600-a092-e12d3b8a24a7 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:b9806ad8-0e3e-45e2-9dba-43849aa3106f phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:b3cd0420-8e59-4511-8bab-7262d484757b phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:4650ecf0-857f-4117-b430-481def839fb6 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:1a0f8df2-4dce-49c5-96ec-fdfca97b36d1 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:c4b63b7f-2761-44eb-b82f-64764153b043 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:f842d400-59df-4aee-b313-a643182f50d2 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:69925dfd-bc3f-4925-9c70-93aaa53d36b8 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:2426de2d-3af5-45ba-a78d-96c6060c3fc9 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:4309ea72-adbd-4fb2-bd29-7b4c5d74d8d7 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:d550539f-d167-4432-be8e-898fd7475164 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:b8049831-7646-49e9-beb6-4075a6413577 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_phenotype HP:0007369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:922c0db8-2dd2-4d43-90e4-e3e1b4cfc118 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:44677ec2-122b-46b0-988a-0606e7df8629 phenopacket.store:ITPR1.PMID_27062503_P2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:45290c55-853a-49f5-8d4c-50002b845b94 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:33949769 uuid:fba56b96-b5bf-40cc-a7da-778c92349b75 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y1M infores:phenopacket-store PMID:33949769 uuid:6d20c7c0-7b9c-4fe0-80a7-97f35b4f8b7a phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0009917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:33949769 uuid:27086700-645b-434f-b78b-5b4a38a05820 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:33949769 uuid:0fad34a9-5abf-496c-b7b6-6f8cde16200e phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33949769 uuid:c2704308-f667-406f-acd4-c53426a075a5 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:33949769 uuid:f617a7f8-6b8f-443c-80d4-ab0e5324f446 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:33949769 uuid:17ed5f71-63ae-4051-9dc7-420db131b79e phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:1cb02711-5523-4907-b299-045b0318ddc9 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:2a2a2413-f3bc-4fb4-aca7-ee378e007565 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:598e10ae-477a-4c17-90d5-5a75e012d719 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:d3cb4b39-2462-4889-96c9-25ab5a218cc1 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:2c9b0428-110b-4228-bf4e-f4af1129570f phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:44c0dc1e-a8e0-4dd5-868c-adf4e896d747 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33949769 uuid:e6c519bd-b8ea-40c0-9080-352f7e100c01 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:5de8ad9c-5163-4fd3-b148-4ca3d619d0de phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:f3aeac36-0ca6-4601-8d91-e473c6c71078 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:c437a60d-c0f2-4149-8256-e9d7a8cbe5bf phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:8582ec60-1237-45b5-8e3a-9de5daabeb81 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:7f07cd7e-9c22-49fe-813d-35a091625f90 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:08944a8c-845a-4d52-8b35-f57a903a228b phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:36310a3d-2b2f-4a93-af28-2479e1b6d053 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:72a570e5-028f-4ece-8caa-fdcdb3c7e32b phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:44e83119-8f19-434c-b72f-5c4d277a4cd5 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_phenotype HP:0033737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33949769 uuid:e3d6b9f9-3780-4576-b9f4-b9380eee7cf6 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:33949769 uuid:703827b6-c8b2-44fb-ac1e-be72a91f01f8 phenopacket.store:ITPR1.PMID_33949769_participant biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33949769 uuid:0b31cea1-730c-4f7d-96b7-692e4ac0739e phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:25794864 uuid:e4bd1e31-60b3-46a2-94a5-a028da5d0da6 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:f88bf702-a82f-40ea-a34f-6b958d5c6466 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:3b10236d-9523-4714-a971-132907e9012e phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:be03a9c8-b6ca-43ea-ab9a-8dd176ffb0b3 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:f9cf067f-fd74-4377-a182-04fbc4606915 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:2caa57b9-0593-45e0-bb71-2079d26dc84a phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:7b1113ef-e9e0-431e-a68d-cfbbd8fde02a phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:6f933c73-d713-44ee-a1ab-7e2ccb32238e phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:451223f5-5680-4c73-8b8a-22071925867e phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:57a45278-ec21-428c-b5b4-c7ef1ec8a864 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:87d83349-fda1-42f4-a65b-92557652b303 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0003698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:f1a048e2-129a-4e21-b656-4deb4a408165 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:e2d016d0-b570-4290-b77d-7a45b82095c5 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:b9f5ef75-c0aa-4402-92e7-cf566a1d3ae8 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:a946ab55-588f-48f5-8708-e61e862b241c phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:ca614d54-8386-46c5-9e2f-3b464d7a28d7 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:2a8986a6-60cd-4731-a72a-e486fc4667a9 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:29dde50e-2b80-40bf-baa6-5f016dde19f3 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:f5140fd3-d9f2-4183-9378-16fba411670d phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:16c09b58-9b34-43e3-8837-c2edf5293e9b phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:ea69d38d-9707-44c2-89fc-b096aab5e367 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:f9ccbe73-6f98-4dc1-b5c1-cc131ad233ee phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:90c35d60-0a28-425f-96bf-85e6fcd41e6d phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:2d2c8f2f-f537-4536-9cee-8b752b87631e phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:25794864 uuid:d2f2c1e4-6903-4510-bc0b-914accfc40e1 phenopacket.store:ITPR1.PMID_25794864_P4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25794864 uuid:8d563afb-2709-49cd-94c5-e7eea4aa7401 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7bb61cdb-1df9-4bae-8ed9-91a1c0ad5115 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:25b6c929-d437-4bde-9f8e-6b6ac0c2c87c phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a9e6b1ca-41dd-4193-8da9-4bc2aad6e9bb phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:2f127075-8094-4ef7-93f9-07bbce26405b phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:e0e5b641-8979-4f3d-8bf2-5f69a9e2fce0 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:bca532bd-c6c1-4ae3-838d-ba9f435ee0d2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:d22f97c8-6d51-49cb-b6e4-64f997dfee01 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:be068eb1-2a01-4454-8494-bc6eb90fcb1c phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9ad7b477-25ac-46ed-8e1a-52193c918258 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b59cdef2-dcf2-41b0-831f-d3a9a6afc176 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:68a2ad7f-774d-4a3c-aadb-a5e6e60f2db6 phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:41f22a76-4e80-4ac0-9587-1146e378dc16 phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:bf27f05d-d4d5-40b2-8df8-91f56ee916cf phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:9da93a86-d7c5-458d-a3a1-a9e5ba81a5de phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:27ee2462-7389-4308-b487-06c116bec486 phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:6c55e113-13d8-4003-9045-1b6c6aaa1534 phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:bcf7130e-9a69-495a-8160-40b31ae1eb3e phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:c5924d1c-0f6a-4d48-b53f-682ea7cc4130 phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:018f716b-75f0-4b54-91ca-ada20d0ae09e phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:bc7c52bd-d9c1-44f8-aad2-65c8cbe4df8d phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:81516d3a-45ed-4d55-b800-06e6ebe7761e phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:db3ff830-ff73-4682-a4c4-262ffdcc66e0 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c65efd55-9670-4837-9be1-a15efb1940ad phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:305bc3e4-156d-481c-a76a-d73c78e29df2 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:10d31e95-3b3a-4de3-86e4-cefb66659e3f phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5c9fcecc-ed45-4d0c-b99e-1b6e4f86eeb4 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c4aa6191-73c7-4aab-b958-05aa9fe6545c phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:828247ee-4c34-43fe-9644-9c6103ae8c66 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7875fe20-b33b-448e-9b17-91fd4bb0fc53 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:66bbcf46-fbc9-4e56-9f9b-5062691751a2 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1c055144-cd3d-4e49-9b83-46c119a75ef3 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:6846ba87-3cb2-409f-b612-a0841281f193 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:37964426 uuid:b6534c95-b4fc-4746-a9ac-22254b2c2130 phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:9b34fbc3-a428-4d01-b4ae-f620389389c9 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:37964426 uuid:70278ff1-af7e-4c6c-a0a6-b2d78fb31aa0 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1ab886ee-e1a3-4c5c-9b0c-8f10d3d8fe6d phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c53df05f-0341-4804-a280-b6bd7b93b77d phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8828bfcd-a18e-444b-a3b8-7d1ce813115a phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:66563612-3cf7-4a95-9d77-3307c9580cf7 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c7f54275-fbdc-4b1d-a371-581eec0a4e44 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d672ec8f-96f5-46ba-a715-eed9b83caf93 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:59b7c271-4a30-4d13-975a-ca54c46cd606 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:7cb37ff3-3ceb-4d10-a7c8-b50aba845fdf phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:d8b7f860-329a-409d-be20-93307a0c98ba phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a33adba2-de4d-4e28-b491-6beb0a773a2e phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9cd72bdc-d611-47c4-a4c0-39409c316c09 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37964426 uuid:e3c9d691-fbdb-4116-a12b-6832a024bf8d phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:9a2eb7cf-3651-4159-b0b6-65cd8e4b4dd6 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3e4612aa-02e8-48db-af95-e3a4a0723f92 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f6a11c99-cb1a-4b8c-ab82-a3d0e4d5ddb0 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:520160b1-87f3-47ee-ad54-05ae7331a555 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:acacbbcd-500b-4453-9612-65ae80a845de phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:67a9ecb5-ad6f-410d-a4e7-4ac7e5d55d54 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ff343431-c3ee-4891-bed4-226204d510d7 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a8dd6ad9-7847-428e-8c69-defcba2b972c phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:79e4e0dc-c39e-4661-9201-cd417d1fb4e1 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:2e62d509-748b-4573-bb83-16258928b918 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:518a2950-fb5f-4f9b-a506-eac87d9035e2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37964426 uuid:a733f49e-f581-4bb2-9d0f-01d69d2f52b8 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:f5247ea3-dcb4-489a-8c50-28b14a52cec9 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:05a12322-10a9-4e2a-8f06-e06f27b6ac99 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:e2483171-02f1-48ec-bc23-a319c6e6831a phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:2a519a60-f62b-44d9-959a-3076637ed7e7 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:830870b8-6c31-4726-8993-8c96e5b4a0ba phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:fe41eeef-fce0-426f-b4a0-d981ebf3980b phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:4efd5e97-63bf-44bd-88eb-31d6c4f0ef75 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:cfa33226-b16a-4724-be74-3cff957d8f59 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:eff1d263-0451-4e14-a642-a8affa0d3869 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:b3dd44ec-52e6-4917-bd03-805029240b5b phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:c8d0cec0-8cfb-4d11-ad0e-69c35e7d8ebe phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:63a391dc-a479-412a-b7ca-68fe5bbe5e62 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e8054af7-57e7-4fe7-bdaa-0176eeccbb0a phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:00f96b0f-1fdc-48e1-98f2-3259224f4215 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:99192d0a-02a3-45a7-9005-263780798046 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:a47d9059-5e1f-4215-bb54-115b81583ebe phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:84680a1e-362c-497f-a99f-1b81c0668461 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:1d3d2855-3697-4fa6-b495-f95091acc27f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:d6decc36-509d-4e37-a5b0-06349fd02318 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:20082166 uuid:abe443de-4467-4a73-9f65-c055dd544ad8 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:06920baa-cfc1-4b8c-88ad-1059655c2c20 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:5ff2fa16-aa46-42c2-8ccc-00bb9d762c9e phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29169895 uuid:b44ce415-bf35-43e9-a688-0786a05f734e phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:a2d05eb0-0ba6-4ca0-b236-96f3c1d00b04 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:e65cbb35-5b91-460c-9412-7eaae0f26e2c phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:1318aba6-f433-4ebd-bcb2-df2410d89cd3 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:b7742cfb-2c5f-4055-96ce-46fca4f90563 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:5fa60e34-da39-4a45-a542-00e691db3bce phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:3e7fa8ac-6614-4efb-ba73-7db0af33f954 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:f9d26aac-ef28-44ed-867c-f5dbaface7e0 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:47b12dee-7f1b-4045-9fdf-bf333da4e0de phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:a67d81e5-83e5-479e-b477-c5b35b0f1a9c phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:01e274ac-ca42-41f8-909b-c7ac0dc70c10 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:6657567e-f5f9-4fce-9690-2f32204b28c7 phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29169895 uuid:4f35421c-73da-4aed-aacd-aac0f735fe1e phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29169895 uuid:d639a1c5-13b8-46e5-a4e1-9a41b2d8aa07 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:93c2db1e-8ead-436c-baab-cb66cecd8746 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c19fc888-0b51-40fa-9069-a1726450b89b phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6288b1dd-997d-42c4-ae4e-eb29f5f6e160 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:27088d57-ade9-47d9-8755-bf0e433bb4ab phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3bdc706e-fcdb-401d-9dbb-2f4aebf89f2a phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4c55e27c-ab26-4e86-a3cb-a9bf0e0d1d30 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:674bfae6-d01a-4363-9e17-b2a911214a5a phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:59de3d9b-75a1-44e4-8646-c2e39115c61d phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4a5d6117-5d33-4156-a436-05a4d4ad8d60 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:80dd6482-90e5-49bf-bd58-e7ea7ff91c80 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:6eec6f35-e6c7-4ebf-871c-7bb6b141afe9 phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:1eb23fec-8982-4c87-ac79-e4936be92702 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:f407b1d6-976c-4640-8859-7ffa0d73cc6a phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:456d5d3b-1ad8-4091-977e-f92304aab287 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:9ca2a8eb-2bf0-4444-aaa3-fc6824b49696 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:8d78b455-6db8-4a88-89b4-a2521569f368 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:66d86927-5874-42b2-a1da-a695edbad9a1 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:f8f65a29-903e-4d82-9da5-fe7373b228f7 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:5c0a6f69-6f67-4955-b378-1207c86f63d5 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:0ff1a944-5048-47eb-ad37-2ba3b13a7f18 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:07212878-ed8e-4f88-b1ee-7e3e3d37e590 phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:c46bc53b-3458-4bb1-bd37-96eeff9b539f phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:86995c42-c10b-46df-8c23-8b9c25c2770d phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:7805fa33-1359-4e20-9b3d-cd0bb5b810bd phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:edee212a-8948-4cc5-87ad-f4fd4c1daeb3 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:37154409 uuid:d4c3b80b-51cc-4deb-ad9d-11a49cc47bc3 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:37154409 uuid:8f457f37-0c08-4cba-b249-c6aa6feff325 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:37154409 uuid:ed780738-b843-4beb-a9b2-e9101ed5bb11 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:37154409 uuid:1e48411c-d170-49c3-9e4f-df8e331d2b6f phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:37154409 uuid:4e12be1f-961d-42cd-bbac-6349b80f4c57 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:df322f7b-3d6a-478e-82fa-3c37d2b85b51 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:abf1813a-dc90-45f5-80e0-f9068903ee6f phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:ffcb0983-b235-442d-87b7-377e61701274 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:aa6e0e7c-1ff4-4cd2-aab3-8a3e4e428ce5 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:7476094d-bf0e-4efc-8c3c-4490a6e448a9 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:44be4841-e03b-4242-947f-7c52636b67a1 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:210c11a5-6a0f-4996-b494-245395d1caa6 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:90712f5d-6f49-4a38-aa0b-6e23e3da2f40 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:b6dc1388-29d5-4191-978f-952f212454d7 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:2f010cfc-ad79-4a81-8a61-87fc61d4588d phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:def026fa-5e76-4e13-b9db-cd45aa3adb3f phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:296dff2a-94d3-486e-9f80-38116dcc5561 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:37154409 uuid:85e1ed7e-c679-4d77-981b-43041d2afa51 phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37154409 uuid:96be1bcf-5f6b-4f8d-b488-ccc5265c2037 phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:cda75f4b-25d3-4f03-88bd-4716bba6a13a phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:bf10829b-753c-49f9-9542-417dc811c25e phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:87eeddf1-d35b-473a-a8a8-bce59a931e77 phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:5af854c4-d886-4de3-bc12-4b187f5b883b phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:a395af7a-3bf0-4375-9aa6-6724f63c89a2 phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:6de067c1-7427-4c01-80c4-8100d2cff00c phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:282ab229-21e5-476f-b717-cf7f5c4adc0d phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:0eb4a238-b457-4703-9d5f-e938589ea2ea phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:8c0bfa6b-95b3-4d44-b8db-067f22a4fc18 phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:6bddf3f2-8e26-452a-b906-2bc6ed7ba46e phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:b7dd02ab-03a0-4f9f-9ce9-224dd3b133b4 phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:a3ca13f1-f4c2-42d1-bc68-4d9147eebf0f phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:feac5eba-77f5-408c-9b17-b1d714171700 phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:f2c8a39f-4402-423e-b3ed-194420f3c67f phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:55e98269-cac5-44e3-8274-767e7577670f phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:a73bc770-6fca-4d78-b81b-6b54975f53f4 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28698159 uuid:0dc80934-049e-4b2e-ae98-47a519f69a38 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:1146f3b0-bf4b-479a-a452-949349f1971c phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:7cdfe98a-b8c0-4052-a618-2814141953ae phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:7728d8ea-2661-4a18-9084-c53030aa34cc phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:0fcadf8b-c22a-4540-968b-4bf947566549 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:4a9ae466-4336-47b7-92bb-80e6947092b8 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:15cf0dcb-6b39-4b43-90fc-63d1142ce126 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:d9322c94-570d-404b-800d-e389f123330f phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:7b749601-52e0-474e-bde1-cc92e49e5d2b phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:ac466ff5-568e-4a04-85ed-2083d735d15b phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:451b7559-41f6-463f-ae86-8af066233d80 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:3dc67c79-ccc7-4ef5-89f8-b1c03e6045a1 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:f8156257-4036-484e-8767-d3ad6aef64a3 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:6a80fdc5-d70a-4eda-81fa-568377087598 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:4202c983-131c-42a5-bb8b-e5f612829b85 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:55cf0e51-9f28-49c3-89b6-a4528bfa87fc phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_phenotype HP:0007928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:b4c99b79-aba8-433e-9912-3621a729cb41 phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28698159 uuid:20c76469-80c6-4643-8d09-bcf222c9e8de phenopacket.store:ITPR1.PMID_28698159_P2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28698159 uuid:589b54de-a24b-43d5-bd45-f8f471ccc0d0 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:cc45c7d3-9369-42e7-a478-7280bff1c2e0 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:a1024d70-ed56-4d52-8dfa-23a6d88b52f9 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:e970fdda-7932-4065-b070-1c1c1b0dd51f phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:0d93eea6-1a0a-4ecf-ae31-63505a490f8b phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:4c774795-555d-40c2-817f-395102fd19c3 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:37379e90-7d0b-4d0a-8626-0b806b3943a8 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:5e6b36f2-00f6-4de1-9333-92c3934bc9b2 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:dcc66890-e174-43c0-8c1a-1e16b8eb8e00 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:a1d761bd-2e2c-43b4-96a0-2faba24d1778 phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:29925855 uuid:e1a139b9-9ba7-4244-bb03-1f417e6a5bed phenopacket.store:ITPR1.PMID_29925855_P4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:350e7fa8-375c-4501-873f-4e06bbbdb8cf phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6d9dc181-f178-48f2-bb56-3252c6d49ecf phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:b1680529-0c64-4d61-bae4-79d01917d21a phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:00a9c88a-a5cc-45ee-b309-49a7e40a8f01 phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:8c344100-109a-474d-b511-9820893b4249 phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:28a82305-e7e7-48cf-a19c-c0ec301c9b68 phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:7d620d5d-f794-47b7-991d-e089beebeaed phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:f086728b-0572-471d-aa2a-531633f70e16 phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:c4bfb8de-b57f-4082-8e3d-50d1a9586aa0 phenopacket.store:ITPR1.PMID_27108798_SVP biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:e6585aea-bb43-43c4-b9f5-5901320810f0 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:21d53558-5dcb-4f49-b2f1-852cca66a2b1 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:d3dc65e6-ea8e-4840-b227-608805fc04ac phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:436daddb-1b61-4992-89d7-8c7c9a7a77d7 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:e2f4a3a1-7a90-4a61-b000-bfd04686a948 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:e3e08d85-8824-434c-ba1e-090145c183a6 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:a0300945-4c22-445f-9ee1-4f68e90db149 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:5b04ee9e-8be5-4d77-be03-c2006f3cc6e5 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:4571bc10-1b23-4cd3-87e4-c23d59e3d612 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:da15bf6f-9710-4a74-ae0d-204dcf99e52e phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:72184205-6d67-4f77-af72-39eb51cba56c phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31632679 uuid:3c798ee2-8098-4d35-9610-8c539ba57679 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:d90449ba-6fec-49f0-970b-175d4c12cded phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:2ebeb5a2-a156-4576-bda9-a0f3a6f89b80 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:714bbca0-f156-44bf-bb09-dcce7ea789d5 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:0ace642d-a9f4-466a-8282-18e1410fe071 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:c80c7429-1c16-4ca9-936f-d0d84020733b phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:48199d27-c244-4d5b-936a-f35e77e4c0ac phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31632679 uuid:4ff857cb-ea2a-4c99-83a8-e1ecd88967d5 phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31632679 uuid:bf98fd5b-935d-4a2b-a8ba-99764400250d phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31632679 uuid:026d446f-efbd-4b0c-8543-8b071a989750 phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:2e97d66c-4e68-42c1-a8aa-466410755d8f phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:0074e223-340f-4788-b785-b3e64bca3a4c phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:d4c56a07-d2fa-4ce3-83ff-468d1bf355be phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:3163ca5d-db6e-46c0-878f-306fd6857dce phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:0438783e-3d83-4322-a699-88a4fcfd7076 phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:bd28556e-74d4-496c-9258-f9051767da9b phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:f47b3a43-2634-4daa-8e10-86f01886c32a phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:df242f1a-fc8c-4dc9-97de-560387cb291c phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:7d5764f9-fe98-430f-940e-23694e8536f1 phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:c2bd8f2f-b51c-4bac-b062-5406f57291a0 phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:953a8da5-4f6f-41e7-b156-8b0a8e1c466a phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:4cee8494-b29d-4ec4-b0e0-cce5d746154a phenopacket.store:ITPR1.PMID_35743164_P7 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:c4cfcf1b-70d7-44f8-aaa2-edb894f2b2b4 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:b74937d8-4948-4bc3-aadf-c3eaa826f31f phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:df42137e-d5ef-49b7-970d-43695fe5a391 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:e44f6e33-ece2-4998-acac-f53baa48c9e7 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:3e557398-862d-476b-ab64-d38f6b698a41 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:31757ebd-2c8a-4ff6-b6e6-adfee38ea4bb phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:5f086fa4-3920-4b4a-9981-83aeadfcc43e phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:f6acd547-0922-4161-b1f5-25e8db266497 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:29186133 uuid:a9774d89-90b7-4009-97f1-df9b778637af phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29186133 uuid:2032901d-664b-4866-a1aa-3af616225e6c phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29186133 uuid:167e3491-b665-47ae-82f2-68f89714bda0 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:29186133 uuid:6b377928-90a9-45b6-8c0b-93d3e350bbe2 phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29186133 uuid:7cfd76cd-4767-421d-9cce-128fcfd3b34c phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:29169895 uuid:6ffafd6a-95bf-40d3-bda8-0ad33fec5c7e phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0001583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:29169895 uuid:172339aa-7676-40b6-a8b9-7673fffffb54 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:29169895 uuid:71c5006b-b49d-40b5-b329-4653a5e6c9e5 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:29169895 uuid:a0d19f63-402e-45be-a83e-251c97cbbad2 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:29169895 uuid:d0694fe8-99e8-4369-8e45-9d6eb4826476 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:5b9dfda7-51ca-4d36-8b40-52ec409c1094 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:33cf84cf-43a8-4151-a3af-02ace072c74b phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:19e12a8e-0187-4b88-8100-1314281c8dff phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:9dc0cc8b-f7b0-4b31-9ca1-76f43ef5d5c6 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:3c645102-4286-4bb0-9a6b-456178b07a33 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:0062fb10-8dfb-4bf8-98c8-88170df78421 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0009917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:69bd1f2e-7f6e-4b84-aa1c-93307d67a8e3 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0033737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29169895 uuid:061b56f1-029a-4e31-b4eb-bdbfc5bef3e8 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:3924694d-f3a9-4f13-a82f-14068abf3c04 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:e96faf3d-9734-41eb-b196-354cf6216a11 phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:aabb8825-c105-4e10-8cc1-d0dc48c699cb phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29169895 uuid:82518257-6e31-4221-966f-f686a684514e phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29169895 uuid:335a1af1-b8bd-460d-84a9-28f789d860af phenopacket.store:ITPR1.PMID_29169895_proband biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29169895 uuid:c8a1d9e9-a069-40fc-8be7-7556126d73bd phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:700cf323-9448-4d23-861b-538cad9c2ecb phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:50dd24f3-78e4-474f-9152-0d4da084d152 phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:08d690cc-2436-4a98-8023-479fefada615 phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:e4ac267c-d5be-431a-b657-f8d2bd92b87f phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:81311c64-d8de-41f9-bf40-cee25d336aa2 phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:7c71a7a1-f894-4bab-ae32-dd83bd809509 phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:9791b0af-29e0-4bbc-846a-2c622a32fac3 phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:3282942c-d242-4743-878a-b8f4e02d274a phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:732bfb1d-70c5-481a-b4ba-944a81bc153a phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:b7420b09-bf83-4122-b5bd-64682eaa3d4a phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:205ed535-55c9-4298-9317-b69d7cbe3cbe phenopacket.store:ITPR1.PMID_35743164_P19 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:38e840e7-95d6-4570-add7-b9d4d3fde31b phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f23f3fa4-9ed5-4fbc-9811-712970aaad69 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ac49bb95-a6af-4393-b72f-8027dd473f9a phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:beec241d-9718-495d-ba63-f4485a4cc949 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0ca9a747-e492-40cb-b137-faefa9856b7f phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2fe51fde-82ca-49c7-83aa-9cf2ff0ed645 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:609b8fa1-0e4a-4585-ab0f-9ed5962d85f2 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:aa1c1cff-5e02-475b-baab-cfe9878093f8 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ef6c796f-3fe4-4e3d-b072-b91484539877 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:53657916-afde-493b-81e9-660dbebeef8f phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0007885 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:54dd7552-7169-45a1-985c-4515fbf34d7a phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c1fea972-9a0c-4124-8d63-1efc9c66377f phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d09099f7-fe2d-4a08-89e6-de4a0cb13732 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0000617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:307747bd-c69b-4064-8e8b-ee209d703862 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1463c08c-a894-4b97-956d-9ab09c33782c phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:50457f93-7036-4a00-baef-77b92d51434a phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:1982a8aa-8e7f-4172-a3a2-acdf6f26d612 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:5e58ea9b-7304-45cb-9ed0-ca29abec23b5 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:738b31f6-4bd6-47fa-8084-9cb5005b7c9e phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:75119e1a-8775-431e-aed7-d162f4a794b2 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:9ab240ee-8e0a-4c12-87f8-c506ab37a317 phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:75459629-41d3-4737-8b53-25e4aaea6bf1 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:27729363-68d5-40bc-87cd-9a08072ca831 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:1ddd5513-3ccc-42f1-bed8-72ceda0e4acd phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:89cc572b-dedf-46d9-a528-8898722e60c4 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:7a78120b-fc5b-4677-bb76-26da2658f67a phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:e7aff7ad-c8b5-494f-ab07-cbbe65c9b815 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:a44e2124-bfc7-4649-b517-10a60e2cf0ef phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:53be8140-1f9d-4889-9230-25071389c9bd phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:606d6304-e6b1-4382-b642-bf22ae764d48 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:3313ef48-485d-497d-8341-16006fbde81f phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:c8f4f97d-2b7d-4d5b-aa0d-a509a0d1da4f phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:15270e4c-1859-43a1-8ba3-a28d1d88db63 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:ca256ca8-f432-4504-baa1-12e0ad2ef2c9 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:a0dfcdf2-dd5c-4e3a-b837-4c61ef64af04 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:19e46172-d11c-410f-a756-e31676b8a6dd phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:2ad961c6-f702-4c5a-b72d-db28f84f0fb6 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:fc4d5069-5d5e-498a-93ea-4719cc213d8d phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:b5d87224-e1e6-42f4-a0e5-a4678d0e6009 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:2ccb558f-c31c-40f8-a326-d21a57ba03a1 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:df6d8804-fd84-4b4a-80bf-a327616cae87 phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:c0e99993-50e1-440e-b009-c5900834e339 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:cffaf820-d563-47a8-9831-ef69ca4778c0 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:ac56bebd-621a-477c-a89c-c50e863a058f phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:a819cb82-4c5f-417e-90df-9008f4c2c732 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:7acec85a-02ec-47af-8928-9b7e08bd9cd1 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:4be1dc16-d2ba-42ae-a094-54f784a99441 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:d7184b0c-7c76-493b-90ab-012e96cf8ec0 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:b6b6da89-3913-4362-9996-8d5d66f0510e phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:f865ff4d-9be5-49c8-9105-17de41d44ca8 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:fab5c484-dbd0-410b-b76a-384dad08c5d5 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:11df62f9-94cf-422e-a8c0-141626ef3757 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:ec4200fc-adb3-44c2-bf67-e6d67e8e0950 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:1fc82c53-5935-4438-a95a-01b6d84e5f3c phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:5ae1a2fe-0cd1-46d6-b3f5-df8ac9c1af15 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:4fd9384e-f5cb-47ad-bdf5-c48b9472b809 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:913777ac-f03d-4fda-83da-f585ac3998ee phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0004428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:23c36024-3623-486d-8099-a87160cd6e7a phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:8670398e-9181-4622-9440-cdc0c48edb7e phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:7d794dab-e99a-4918-9e15-8fd2a7ba5ac1 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0011094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:a55d1a88-4fbc-474b-ba4f-480aa1e5e423 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:5c03d606-4e49-466b-a517-d863981fa260 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:7bd70077-b74d-478d-a5a7-7beedbaca44e phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:9a92e01e-ae9b-4048-9bb6-a03ddf28f727 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:6c75509b-ecd5-4d6c-8c06-2eb9433519e1 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_phenotype HP:0000570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:18cd3aaa-f342-4912-80e9-f42fcc030a38 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:28620721 uuid:627dbc7a-7440-4fb6-9b32-b73f70555f74 phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28620721 uuid:2f77e65b-287a-4c0b-ab4a-2efef5dd2ca6 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ffa05efb-78ee-4fac-a644-0ca4ec415477 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dff665ea-8944-4aaa-a784-0afbacbe8b04 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:4a319d59-9fa0-4a1d-96a8-cc19defd1d23 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:e4a819f6-0b60-431e-bd9b-11a3c946c2a1 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:321d6b4a-328b-4edd-87ec-b89e6e090f4f phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:21367767 uuid:4c108f45-4dd1-48d8-bfc8-023f7e4a9c59 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:21367767 uuid:d5ce5029-0c07-4e45-a8e2-8469c549236b phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:c0ab69f4-db5e-4cfb-89dd-541e3aada4ac phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:f9ea5cb0-9b71-45a5-8a43-9f6fc56f9ecd phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:f0a08789-e574-40f6-8024-e02318c4ab11 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:bc8c5dd6-9254-4974-8588-a1c6b310652c phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:9c7a47cc-948e-471d-9363-a8860248b54f phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:6f9656a4-a51d-413a-8763-fa490c612b8c phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:90b4c6aa-0103-46a6-9f97-156f2eab2cc3 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:317f83ff-184c-4305-be2e-2ee2fdf1c1a4 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:7277748f-5b88-4200-b411-4a21fd95e209 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:19fad511-28b6-422c-a770-23adc5f309e9 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:ac9502d3-3e6b-4c28-a1c3-5b9e0ae68f2e phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:6486778b-feec-4e51-91f3-f20b98dd5f14 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:f5e24c0c-501f-4ed9-bbf1-a98f6f1d731f phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:858e9f4d-4255-4d64-9def-8c4d99299411 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:21367767 uuid:04841874-9af8-4d69-ad8f-faafb5c7a4c9 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:cd72d745-0561-4490-8e85-1155a79217a4 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:432a0758-043e-45fe-86c4-3b417dc106b7 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:94b48111-a05e-4969-9836-cf3eaa8d8b1c phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:1994224b-c9bd-49a7-85e6-950da2737f48 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:c6a740b0-3899-4b62-936b-e9e7dd616424 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:65689f97-fc5d-4ffb-a6bc-5880eec11add phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:13c908fc-272d-4250-9a53-867c94d16c11 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:ceade89b-6f80-4d04-8c99-a1deb303fbcb phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:6b479e9d-ae35-4b79-b93a-4199a5c937ab phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:2b95451a-da09-4dec-b86f-0e8b764969e6 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:85bf0eaa-d832-45c5-b2c6-ebc21a75e897 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:07773f09-fd56-489b-a2a8-27b4e05afd78 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:23ed1ae8-7e79-4a03-95ce-a083730e5e63 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:1cf1724d-80a8-4aed-a4bc-335e1194d3b3 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:8535bb2f-9f66-499c-9766-9bcb0009ae32 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:101418fb-0178-4809-8096-901e484cecbb phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:8a7989e0-0aa8-40b7-8696-86dc33ebbdd4 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:39fb3d1e-36a1-4075-8b53-665a453924cc phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:ad952388-3284-4ab4-9a27-c8673f3ea489 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:9af97a96-a7e3-4257-ab46-a5403b72c67b phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:cc0b2dbf-7e15-4576-8857-d519eed7d152 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:127b2406-7102-4064-b0e0-726df5b6f755 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:498605ec-0db9-4b6e-9952-54e4d78a652e phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:cdcf9436-212f-49ec-b713-5223fb543a16 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:df91d5a2-1183-4e85-bd4d-ed2efbcc00c5 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:a0fed918-1ab7-4f81-ab9d-1dd36680966b phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:bffeac86-f61d-4486-808b-9a38a84fd347 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P65Y infores:phenopacket-store PMID:20082166 uuid:5d21ed75-db3f-49ab-80c9-480706366e04 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:b749f231-691c-4fa6-b817-182a5ae94a13 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:bdc27748-d148-4bae-b0db-4078d8779584 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:774a0c1d-33c1-4378-8057-1b1c340e7f73 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0f57e164-aba9-488b-ae51-9af8874b0f23 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:97c37b1b-aeb6-495c-ad55-7adab2eba2db phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8196468f-378e-45bb-b2c9-6657d5c1a8e3 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:de7147c7-7848-4b97-bfdb-c157c1dcb48c phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:39777f62-9704-406c-8027-8d08dab14795 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b22234b7-e316-4a80-86b2-a8e649d92774 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:ea9e6757-9842-4fa1-bd91-2374c2fabd7b phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:7e2baeaf-a274-46fa-a65a-d0fcfef256d3 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:c41d632c-6892-4990-82ee-5295f1a1faa3 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1210b555-e49e-4ed1-94d9-5a95483ee1fb phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:68e8f3e0-394d-4177-b520-b1da1554d777 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dd22d59d-ac07-4116-ba6d-3a8885eab154 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ec142840-7d15-4882-b16b-4298703fdc52 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:745366d5-fa07-424c-9bfc-4699cea78626 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:8fc4f76f-74a6-495d-b2ad-96e79275edda phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b378cc42-b247-45e1-8a38-773b044529e2 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:9e880fe7-6547-4521-8684-2e2a2fb7e9e1 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b2f69536-ed11-4a1e-88b2-82331a1c6160 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:da91d67b-1087-4460-9289-59f642121e37 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:71cf2187-e77e-48be-bd98-1ad376981717 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b5a31476-f03d-4d68-b5fa-4cbacdad5d79 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:6aeec4a0-fb0e-482a-b15c-f86b53b96ac5 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:88327ad2-1bd7-4936-b071-b05e444cef70 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:0192e99f-5d0e-4c26-b80b-1c2d693c0bf5 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:c25d2bc9-1adf-4b4a-bb32-e3158d8baf24 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:03239ddd-9770-4ba2-863c-79d2d5e4e41d phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:61380a66-ff6e-4922-aba2-1f8a0beb6c5e phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:4f8b1014-04b4-44a8-ae1d-dd16f31fb808 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:dbd408b5-b4a0-4646-a64e-4338dba5104e phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:d1763940-ae7a-4536-804e-c408641a3cd5 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:30909b98-de91-441f-85b6-6759cf9e6110 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36233161 uuid:02596a02-546a-40d2-a884-edc0052cab63 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36233161 uuid:195a8799-d658-4e2b-9179-ad24a437afb7 phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36233161 uuid:1e93219f-0edd-4308-80ce-93a647a510cf phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ccc30776-0a06-4fa4-8bfe-f7ff96b99a3b phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7fc1b2e6-4981-4c61-bd48-5cc0f6d555a8 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:5f8e07c6-1626-4640-932e-f75330da7b22 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_4 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:42aa9815-20b4-40f4-bd10-421251f71f8c phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:98231e5a-8a8f-48d1-860c-b14cb07924dd phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:aafa2527-a229-4fe9-afd2-6447c3fc1cf5 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:0ddd9a7f-f4f1-459d-942b-dd4ae41a13e0 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:3cae4024-4ba1-40c1-b2f7-2c1057aed3ac phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:f5ef7344-fd68-40ab-a039-6debd592ff4f phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:42ec12fe-5e20-4707-bedd-b66ed78c5f05 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:44eea982-e53a-42bd-94c7-6ac97d7216f8 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:bee4709a-613e-4188-9bdf-1c97c8e3d76b phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:a8c9aedc-b6f6-41cb-97d3-ef8fc1e4d386 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:edb02f10-67ac-49ce-9068-c2578026067c phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:a6c237ea-9bb6-488a-a172-bfe80468a26d phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:3a0f8915-b3f0-4873-a278-dcbc83a3cb42 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:c0984c2b-8152-4cc3-a31e-10b72e9bf9a8 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:2f1f2817-d1ea-44b5-a7ac-b1e9eb754390 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:505c55a8-6adc-438f-97a6-6101bc887545 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:af16e11f-ee2e-4ac0-903c-5cf2fd8e458d phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:cbd5ff57-9465-4d85-b6f0-6806f7c24a23 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7a472252-74d5-46c8-8e2c-aeef33015cfc phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:07bcd97c-25a2-48f2-b8d8-38c8082ebc44 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2a94af1a-976a-4f98-972c-246a699aabe5 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:215621f8-466c-4c8a-8f4d-81220a3463bb phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:87a2fa97-46d1-4f15-bd8b-55cf6c93e20c phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:4825fe07-f8c5-4175-b5d8-f394aa059480 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:da69f0a8-8a77-4c07-bfe2-bd9dde973ba1 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:515547b8-1cfa-416e-9412-4410541801c3 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b97c3d28-2311-47f5-ab71-0e311452c8f3 phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:446455a1-c4d5-4bdb-ae08-25b73c4baf7c phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3d99bec9-6a82-44a7-8161-1520744d1bbb phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3b0016dc-1563-4e3c-aa19-4646cff9ff00 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d49163e8-1b27-4f2c-bf9b-df9854c99848 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5dca5335-3077-4165-9079-8ba8cc2be0c0 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3fc2a033-eea4-47bc-b128-051555218a35 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:73af2f41-e967-4365-8e93-43a26c5b6ec5 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8699d84d-bebe-4dae-b517-d5bd86a522b1 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3213cab2-fb97-4b5f-81cb-8a1a31bcf3e5 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:e448c0b8-b291-4554-8880-0c6afd3f9e4a phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:3c8343c5-ad46-4ef2-9da0-2ba85cba47d2 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:df530e12-f313-49af-a2eb-efc79ad4fa36 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:31b569da-d85a-4a4c-9092-a67c13bc15cd phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:965df1c7-448c-46b5-8fe5-a912f9479d03 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:c65cea1e-f65f-4329-8d3b-6a123245bcff phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:bca3536c-4ee6-4453-9b58-fc0b1e33fe45 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:5ab02346-b2af-4f06-ab90-ae5794a316f6 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:9542a932-333c-415f-ab37-55ae870adc78 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:03bc2018-8272-4eb0-b34f-af7527501cc5 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:cc071252-7c8a-4bf8-8612-008ebc7fe20b phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:c3fccaa7-5c1c-4fc6-a01d-8c2ab387882c phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:3ccff08c-c475-4e81-9eb4-3d364267f23b phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:d4223eed-8c6f-4ca9-8a7b-508c97342488 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:363719a0-b91f-4aad-9c8d-7e45a6661c30 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:310dfb50-8e87-4bc0-ac3e-6addafb3298b phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:ff6eeaac-2791-457d-88e9-b21ed4c78229 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:9763ba4f-0685-4889-8f53-4869097e78cc phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:b029e6ee-3002-4754-8834-29ac1e7e6e03 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:9631ffbb-2085-4411-98ac-f73a0b990907 phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:770e9ce9-9d45-465e-97b3-70b0d6556d4b phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:273b942b-187b-490c-aee2-d60ffb33b0f0 phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:6792ba86-de64-4101-9bb7-822897d09475 phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:0084cdb4-9aca-475c-81ca-c9acd8d0ee09 phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:aecadb83-76cf-41af-b28c-2ff0c243053d phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:18581a18-b453-4a76-9785-a88ae09989eb phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:ec8172f7-bc55-43f4-a29c-73fa45ff521d phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:b2eb86a7-b0ef-468f-a6cb-c359139a6f35 phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:ed819927-ebd7-4699-972c-ff38f91a1ccd phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:29925855 uuid:747448bb-2dec-4dd8-b0ef-1693b3b090cc phenopacket.store:ITPR1.PMID_29925855_P3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:57c892fa-aad1-4f7d-b133-254c22295902 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25794864 uuid:71fc4310-aa49-41cb-a3d5-0d0aa9990511 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:44396ddd-44d5-4377-97c0-1f60582ed101 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:b9a3ac51-d88b-4661-9fa8-c2acf7eff6bd phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:ae13b6ff-1581-4969-b44d-59970094963f phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:6fc8fe59-a635-4f03-a1e2-e3636d6f8fc1 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:0844c5fc-4e92-4b1b-bac1-aebb2e2ebd0b phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:c997b491-edf6-4b20-8b35-01a3c299ca9d phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:69c7a2cb-ad97-4292-8d2c-c20e2ce4e1e1 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:487ba009-9f7b-4cac-917d-222d28ceb076 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0003698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:b15da10a-25e7-41f3-88c7-a3ff7c2f1f9a phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:b267654f-76f0-4faf-bd03-74d1e0c1f002 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:bade6d80-2b0e-44e7-995b-6ce2f9f90869 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:3331f926-d068-4c48-8e86-02c6e55e91c1 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:b1965d33-0c5b-4847-9ab5-37c920aa77aa phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:d1dae109-813b-49f5-b608-05e5ec1e574b phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:2b72c09c-688e-476b-a100-238687e80b87 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:dd66f1a9-66cc-4480-9883-cfe57a27ae18 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:694be4e7-18e3-4312-b0dc-3cbcb1bbf90c phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:b7889aaa-361a-4d8f-858c-998da7aa155b phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:d10ca89e-f9b3-46ce-98f1-a2337e7f1cfd phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:1cf59abe-7920-40b4-a20b-945f40c857f5 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:21d9ac64-a03b-4f6f-913a-a37b446b9e56 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:5e54e6ea-dc63-4971-974c-c4a79410ec0e phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:9ed84c1e-fafc-46fe-90c7-342d2a27914b phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25794864 uuid:d36c69e1-e887-4955-af4f-61c4fcea70c7 phenopacket.store:ITPR1.PMID_25794864_P1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25794864 uuid:f8c3ce15-d3f6-4fe2-9eeb-db83835229e4 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:e1df9be6-1767-42f1-824b-99bd7d66f83b phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:b6fc4142-c94f-40fc-969e-dfefcc0962fc phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:fe088ce4-bf07-4d74-a4d1-ba28af913f36 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:5a7176f0-b702-4d82-b660-12ca89daf732 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:0d9d4032-2455-46b7-b44f-b6df98e422fc phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:79d0dd6a-5358-4cf4-9a71-84ad4d129edd phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:14ec0556-2a98-4e82-887c-fd20f66b9ade phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:ee472498-e1dc-432c-a218-7186fa358cb7 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:3f27cea2-a88f-43c4-8497-964a44703790 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620721 uuid:d5c59626-6d1e-4604-ab9d-684e0b147d6e phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:cb6a7793-8bdd-48a4-bd01-0888e125e6b4 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:1856a3b5-5f29-48ad-8b80-91105961a13b phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:8e8142ce-095b-4724-bffa-798c4973f14b phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:937daa49-ac75-40b7-a403-0002e33340ac phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:a2b9476c-45cb-4520-9115-27bca9123847 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:e1eae4e5-6be9-41fd-aeb4-d41b772b43c7 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:10161d9d-d705-4154-a3b1-8c39a9dc8b40 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:a4593c8a-3ce8-4562-bf66-b14d54f47719 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:9a2d07ad-8b73-4e66-93a4-eafaf70057e4 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0004428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:8a6dbbc6-b54d-4ddc-bc15-bda2de742fcb phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:5c04f088-a05f-42de-b6ee-66a9c9a64851 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:3d105639-8c85-40d9-a1ab-3fc4336cead7 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:2fa8b2ae-8df9-40c0-aa20-f38a1a534958 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0011094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:3b3015b8-3a7d-4eff-a225-55d4c67b4985 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:996aa689-eb6f-4908-9105-fc29a0db4c75 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:eb163aa2-46cb-4cb4-9ec2-73cc6cbb6061 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:c479c57a-357d-449c-a494-f5da30bb70ae phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:0a13107c-a0d1-4daa-bd62-0bc751af1e62 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:429cfe58-9c03-40f8-8d37-584a05f1d641 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0000570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:20f0daad-db16-4b8f-a0a4-5c0c4b038b92 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28620721 uuid:c379a14b-1687-4d7c-92f6-5888a105311e phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:28620721 uuid:a2a3f184-a36e-4d87-b20b-238fc335ca34 phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28620721 uuid:2eb89f3b-b9a6-4269-8c94-bef5ddc4ff06 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:715604ec-ec34-4599-a637-b56082baf8f8 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:837e848d-fe75-4069-93d0-7861104bd6b3 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:3cc02077-c160-47be-8f4f-cd0a5021e552 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:5a1acbb2-e818-479d-bbdd-66a03a46b017 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:1b7ca9f3-aaab-404f-8f17-d013b44c9368 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:953555b3-8218-430f-90d3-67b93cf2ccb6 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:ce575663-623b-450e-9b5f-66aabb3331b2 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:412943fb-7803-4980-ade2-dc715c6be2a4 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:3d23e014-d199-4ba4-a1f8-ff190df06647 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:da3d08e8-fd23-4a9d-911c-9c70cdd03482 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:6224648e-488c-40ba-a705-9d2e5e5f455b phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:61ea5f56-9db1-4ff1-948d-e8b643687607 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:98c5599b-2bd3-473f-bf45-0fe62362cacc phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P70Y infores:phenopacket-store PMID:37154409 uuid:8b902a02-8b47-40b3-a3a3-8ff9503e5fe3 phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37154409 uuid:72c23b56-0513-40da-9d11-7ce0d1455fe4 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:b632f269-f121-43de-9c36-0e8914108d06 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:1e454241-1a55-4eb3-9fdf-2b3ec41d7a80 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:f05f3f8f-a8ad-4146-b943-ce03e5d9ab80 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:cc79dc2c-d991-4bec-be25-8d18ddf52b2a phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:a451eeea-2ab3-4aff-87f1-9a51807825e1 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:2b9a35c2-e2e6-4418-9a96-16a5c0a2ed2f phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:0405da6a-03c4-4314-8044-04bd912e5adb phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:f9ec640a-751c-47bc-bcdc-d02babff61f5 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:4bf2e148-4e04-4f1f-8ac8-08985f032a8b phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:6ea0408e-55f6-42c5-b2de-423114378b40 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:0bd43172-8f9f-44cd-8303-3ab3aa7c6deb phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0000617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:95821592-0ab0-40dd-b72a-5eec326b71f1 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35148930 uuid:71305b9e-252f-4e98-99cb-5d3a7e9c0ec3 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:2163ae3f-9039-4a7b-8ea4-06cfd236b319 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:347b1674-66bb-4736-b7df-5d6d813b6c72 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:0e775e65-81fa-4745-a37c-88d41ce98bc9 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:2b958125-ecf1-47c7-b046-23c2ecff15cd phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:a97de06e-c350-465a-8a35-9b46a3b80d74 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:e9fbf010-a98a-4a6f-8256-5dc722cc5440 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35148930 uuid:c65a77ea-3129-467a-ac33-1bba4f333752 phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35148930 uuid:cd5d65cb-f789-4711-9a4c-a2f3d1448c3a phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35148930 uuid:08f7f73e-b193-494b-9d32-d3125ba4d2c5 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d13c059b-d5c3-49a4-8c02-c10d910a0a6f phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d3eeb742-eb80-4fc9-84b4-1897efaefed9 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:df88a110-08e9-4206-9e44-df917346814d phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:bb3fcd5c-5565-492e-89e8-03189e6b8a0b phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c067c58c-013d-467e-85f0-2068fff6ec4a phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:71d94796-4087-4508-8601-32a64fe4d9ec phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:aedd5ebb-b018-4e17-aac2-ca6cf1f63dec phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:7edb1d54-db4e-417c-9ca2-3dcb8e694cf3 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:6b5924cb-23e1-4cce-83d5-a567dfc9cb8d phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:8fa5c0bb-8b77-4d5b-8095-3078fb5e30d7 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:10153de2-087e-41af-8559-6f755a99fe5c phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37964426 uuid:d7450222-826a-4246-af63-5b69ef2e5ac8 phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b53bdefa-d562-4383-8ceb-ca8c1c8f9f46 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:25981959 uuid:523a8919-9ce5-4c93-a555-f0ccc8be2272 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:82fe113d-882a-43ed-9061-348ce2f26a54 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25981959 uuid:7acf8d6e-9b2a-4642-be8f-4896576e8785 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:3de0fe0a-9c47-4f0c-aa94-e8896dbd521c phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:86ea5b40-eae4-43e7-91da-c7a652db29cf phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:77fc6b44-9bc9-4a94-a438-debb884cf3bb phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:7468c05b-f7e3-4c01-af58-7be939660cff phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:64c189ab-8e0d-48e7-b9d7-8066f6897333 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:81462dc6-0b27-4d11-afaf-08fc6f3882f8 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:caff935e-fa7d-48e8-8185-8992d516f572 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:006b8c7e-6d0e-4eb5-bfe3-eedc3709600c phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0002423 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:40764102-cbb5-4ecb-8446-798fef04baf6 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:1cc957fa-68e5-4917-8e10-ab7b83570e2f phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:0086e6f6-7a8d-4e4a-bcae-02373eeee053 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:612d4cb8-aaeb-4550-96d0-7e617c8cf1a1 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25981959 uuid:df591190-236f-438a-8b34-6c623fbe9ee0 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25981959 uuid:efc8ac02-45ac-4743-a0bf-df1b3a7e1e3f phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:b00b8f29-32f0-4585-8e7e-585f2811c2f6 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:19db65e1-0612-4fdd-b76e-a7a76466a947 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:e70a20d9-5ce5-428e-b51e-649b86ae7707 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:5a94ecb2-7139-435c-87c0-e924d429b3d0 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:8235a3b1-f992-47e5-88cd-18d705e65e90 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0002442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:dc2e572b-1ad8-4a27-b44f-c7d213264040 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0007885 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:85745d3a-bb63-4afe-92a0-40e5577e851f phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:ef2ed38d-b504-4e7c-a590-d6c9871ee0bd phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:cff950fc-8d4e-448d-93ef-495c17c26f1d phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:b145f9e0-6b5f-4f57-aded-720b8c14afcb phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:2c873488-f300-4aef-8026-248f811d968d phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:cfa5e7b0-608f-4698-9cea-f69a0a2c662c phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:429c4813-e55a-434d-a748-08015386629e phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:480d6e91-b4e8-40eb-b06e-c03d18bed54c phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:2cccf6e4-4f8d-447f-afd3-f543ba9615af phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:5d6dbbc8-e099-4fb6-bc0e-3afe87d3861a phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:98316f73-fb03-4abc-b43d-d9d3d9e0c0ec phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:ebf4b38c-f2aa-4a76-80af-5918c640d7d8 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:a9b74837-e090-4916-8be3-19035d13e6f8 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0030177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:26c863a6-bd4d-45d9-a27c-ea080c360a3e phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_phenotype HP:0012896 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:0d55f9d4-9886-40ed-8bfc-d84c2a708c13 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:29925855 uuid:7d6a8ddf-3b49-4383-9efb-b9d3ac76ddc0 phenopacket.store:ITPR1.PMID_29925855_P2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:6621b4e4-eade-436d-88c9-6e19b0af2fd2 phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:580ef7a0-008c-4445-a61c-e2047bb5d24f phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:2bf176c2-904c-4c5e-9b22-b845f2bb069d phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:cba5be8a-77b2-4c68-9b80-01f33aeb6b53 phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:97008cf0-a8d3-49a1-b0c6-57131835861d phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:737b966a-ef70-4b82-aeb2-02a25de588fe phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:c3724258-d974-41c8-a474-c0f66037293f phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:0ffcee84-210e-4d29-b537-e177e0e8525c phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:8e338053-cdee-45f9-8543-74f9318a9bb8 phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:78c1e450-3a89-4a1d-95fe-ad1156f1dacc phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:85fbc6e3-8190-4c89-9842-b4624bf66fd3 phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_phenotype HP:0040129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:2f3f1ab8-5ac8-4754-b65a-b93c26a7723d phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:a0bc24e9-9266-4f0e-b585-d0cd64a65336 phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:07ff6ecc-067c-4413-9b53-af93ac236c0c phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:9274e667-1c12-486d-809a-60505ad6c944 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:35eacb24-167b-4f5f-8efb-57cce0b62f5e phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:dcbd468c-d6d2-4e54-ba4f-876c2ac340c9 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:075b4c2c-8dd5-45e9-ad3d-f7398356770a phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:c0499f4e-9c79-4809-8ea7-5a8302c03453 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:d35d5005-e4d9-444f-a672-0bb42d2ea283 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:fd0cd37b-93fa-4d0a-872f-ea0d2d5950a9 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:c255ddc3-5a7b-4e9d-ae93-5e215286eba8 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:be079171-aaaf-40c5-a14d-0610eba6ed76 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:f5932e1b-8c3f-4c9f-9b1f-fc56803ff03b phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:6d90c7fb-07e4-4992-8bf1-81b1d8ae351d phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:0136da94-22f0-498c-93d1-2440437b0649 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:112d4ea8-fe6a-406d-aa4a-74c7071e7dc0 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:b50f348f-c883-4aea-ad15-0a45d1972563 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:df155351-6391-4eb1-b74c-449dec0253a8 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:c640ffd5-e9d2-428d-8810-6561526fcaf7 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:a20ecb87-ff3c-4614-a7dc-43cd4f1cef79 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:83099649-1a3f-406c-9ad6-f0efe79cf7fe phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:288651d0-5139-42eb-ac41-139d8df8fd20 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P60Y infores:phenopacket-store PMID:20082166 uuid:0175f030-0df0-4f09-9f3e-f1e27792a614 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:95049c29-c826-433b-ba37-723c8b6734f8 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:0f01806e-67a1-42dd-864d-a4756d2ddbe4 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_4 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:2e21cb51-c88f-434b-9db2-655e7bff60cb phenopacket.store:ITPR1.PMID_34338282_GLSP_family_4 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:90fd6952-1304-4120-8890-fa764f6ffc2a phenopacket.store:ITPR1.PMID_34338282_GLSP_family_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:c66a002b-0502-43f5-be3e-20ce8310f137 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:da256f42-1c03-4c28-b6a6-ab91f8f6c7d0 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:443c03d3-8921-499c-a99f-75fe98a77c69 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:570b9f08-0b87-4d20-a05b-4c9b9c5f7f3d phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ede43ab9-8621-4293-ad6c-1a095fc3306e phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7b5dfeb2-7dac-47e6-97f9-a749e2e4fd96 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:718b0af3-157e-4072-890d-056e12baf7a1 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:54d53082-0044-4d84-9a96-4a9a7abc5fdc phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b1db010f-febb-4dce-bc81-571631c9b09b phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:367fdd4a-85b2-4165-8b88-a5ddbbcca900 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ea137dd6-15d8-4839-8f86-e428ef63cb47 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:64ff327b-05ee-404d-a692-4ac78f835655 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b58bb53f-b9b0-435d-b0ce-c58e3fd6486b phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:8f841f38-2989-45b6-b24f-48ed37b0dd48 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:81f51687-e4db-44d0-8159-4159a186ee81 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:08e1192d-c40b-4072-bf5d-8cb85ba7cda4 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:e51e263b-e3b2-4d1b-b845-cb1656f8568d phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:73d9357b-1c59-4150-af2c-694a2b2b372a phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:b9711922-19d9-49b1-a4e4-0f6909242a31 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:ee881e13-b02c-4a99-b1f6-d70401ec19bb phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:a85e2efe-1c09-49ad-be83-c42686db7e86 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:9f221c2f-eaed-4085-96e9-a655b9818f72 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:ace2f82f-38e1-4399-956d-ce7d3f819cad phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:aeb17b74-3627-4083-b555-1302d255d893 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:aca642ff-0d35-4eec-8e8b-6c14e658f606 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:6c35c1ed-decb-4a3b-b132-637c0bfb7b98 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26770814 uuid:da57602d-4578-4c8a-9b58-3d5d9a2c2d75 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:14330017-786f-4d6a-9d3e-4b2b7bdab69a phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:eb5c5326-2135-4beb-8443-f6b66b93643e phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:a8f91721-2253-4408-9e7b-fcabd3c965f6 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:8b3b52a6-9aba-4b0b-9d1b-95ee229136cd phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:86da502c-7f0b-48df-af18-2a8b62d41fa9 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:9abfb7bc-d85b-4a34-92d1-6b9115d1b0b6 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:86905b8b-f951-4b30-9a95-6cf53c0194db phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:7ff4a5f5-9f6b-4a24-be7f-8d6286ab24d3 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26770814 uuid:09fd7982-7898-41ca-84ac-31f9200e633c phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26770814 uuid:cc4d15e2-2e8a-4ab5-9d4e-7a7142063bb3 phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26770814 uuid:5b3aba0d-0460-40e3-adeb-9a2f18976289 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:b4654dba-221a-4745-84f6-842c03d78a7d phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:fae3102c-bb2b-4e44-b2c6-b1164a9716b6 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:9bddbaf1-e2f3-47b3-9b08-59423646800f phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:674cce55-3c26-4fe2-9c97-4eed6f089e49 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:97c5f296-2dfc-4c7e-aa0a-4bd5c608cc7a phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:b7724e52-27aa-4102-8240-fb7e0cdcfdbf phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:c1af871b-c316-4da2-97c8-5ffde719d8cf phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0034435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:c9e7a777-6a4b-44d6-9da8-590723bc8dcf phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:78d7b452-ecb5-46a8-841b-2a516877bd6e phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:1d4983fe-47e8-4755-9d7d-e610cfe2250e phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:9591b4bc-75f5-4fc1-a627-a7115e1b3d69 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:0501b8f5-4997-484b-9e9b-9a7d766507c8 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:97f9ffbb-fc86-42ff-947e-feace6f1730c phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:1aad55fb-fee6-4e81-a6ee-079573714ca4 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:669c9dce-572f-4cad-8ee4-a59a6871c13c phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37821226 uuid:7e9b983d-f498-459d-9b17-974582929993 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_phenotype HP:0000555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37821226 uuid:733326e2-58ed-47e6-b915-6258ae74bc24 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37821226 uuid:a0e12222-a4c6-41d9-8895-87e6096d0689 phenopacket.store:ITPR1.PMID_37821226_P3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37821226 uuid:f6a8f55f-efd1-4849-ac49-72a9d04dfc7a phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6932afc5-a0b9-4328-9583-1612f3fe9f09 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3011ede9-afa4-450c-8b14-fec3d09ed443 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3a111c16-e006-4f12-9a73-dd09baebf5ea phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f153b862-0f6c-4eb9-8508-3a0e287a8fa0 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:66d7f40b-9f06-4b74-9f5a-72fb5c3a7fdc phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4b2aefe5-d405-4dfc-9345-bcbce7139477 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2f5c83fe-503a-4e16-a3a7-b9a2421643a4 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:04734e4f-a2a6-4381-9516-159351db2e11 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:67376a7e-9066-487b-bb72-2f61dcf5b50f phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:05e833f8-f534-43a0-98aa-2a07f9083852 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:21f79699-74ad-424f-974f-8092ebf13aff phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:d40e39ce-d6ce-482a-88ec-2e6414dca2d5 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:1acc0157-10d1-48ac-8102-8563459263a0 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:54db3c12-72d4-4ffd-9ee2-ac68c431f61d phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:258daf9a-5642-4682-b74d-acb72d6ba339 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:1f29b260-99cb-44a1-b70f-14346d02e0cf phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:77a2064b-1aca-47cc-8d2f-c62487460d90 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:772a0c4e-6851-4baa-ab30-0ed4bd940141 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:0f4c8abe-0f24-4386-9215-3509767755fa phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:9a2ff9af-da72-4cd4-8711-935300892b35 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:bb3728e6-26c5-41ee-a357-5aecb898157f phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:2742047a-1e1e-4ac4-81a5-00eaec03b3af phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:e1405fc6-05d3-47e7-ba75-f2d03344db63 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:1822b6bf-33e5-441a-ae2e-96b9018bb8be phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:7dae3d97-fe9b-4995-a4f6-6ba936b69a4a phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:66719bc0-cafd-45aa-843e-8a5505943a45 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:6d912e50-2597-4a76-a883-acd829bb1737 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:888dba23-ba14-4fec-acbc-c31a3a858bcd phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e4254496-3d46-4048-9a71-f3322df827e3 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e0d324d7-18d3-449f-8f74-828973a08eed phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:20082166 uuid:c3c0575e-5951-4ceb-811d-3161086f1505 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:7fd6e6eb-9de2-48b5-a105-c6421a1c9d9a phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:a6bbca0e-7ca2-4f6d-b3ac-1e6bc3b09d0a phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:004d58cc-c20f-4788-8503-f84278c029a7 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:68d20caa-e6db-4b08-94f3-cad4e45ee6ee phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:24799dde-00fc-4dd0-a543-d7b24b194304 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6fbca4b8-9b27-40c9-b7e7-ebfa1f7f802f phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:5b117811-a36a-454a-a320-d7f4e2de5260 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:92ef3535-6de1-4d1b-868a-354cc5366509 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:934d9739-0ff6-4676-8a04-b5ddd8865c4c phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:a88c905e-1a75-42bb-b92a-26ab592e9575 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:92d6705f-f081-4894-b077-06f601bdbc1f phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:9a8992e7-6cde-4317-86c2-67a394b85caa phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:beecf896-0ee4-4a61-985b-b344042b901d phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:f1d5771c-5153-4762-b15e-27eedcc7cafa phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:80af6e34-fa68-463b-8374-e03e77e58aa3 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:bf8958b0-613e-4572-93dd-dd3df0f4f4d6 phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:77d1b674-82a2-430e-9b96-1bb195b9554f phenopacket.store:ITPR1.PMID_27108798_263220 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:f45d7672-7965-4e7a-9d58-cc15ea60cecd phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ca6cf996-9e54-4b9f-99ae-eda3e83fd50d phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a4dbed48-eed9-4329-862c-d65287a66dd5 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:cbbdc57d-9559-4bc6-94ef-473d03e8d2a3 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ec96dd1e-eef9-47a4-9cfa-1a0a3a96a331 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8445c77c-55e6-4d9c-bd0e-fd604c516be9 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:3a381fd0-24fc-47c3-9f7d-f033753087bf phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:55ddc13f-0101-4b24-90fa-a4918d01a0c0 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b19e64c5-0999-4d0b-9fbe-9becd031998c phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:486473a7-86d3-4b52-8c76-0aa8906d5216 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:ca911272-ce46-424e-aa32-a1f612da7a18 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b30064bd-f23d-40a1-9a58-e03f6bcb6e5b phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:09f3231f-46df-4acc-8353-61294ecea8bc phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:c739a254-57c0-49a0-b1f9-07c6c4832f62 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:6c388bbe-2e74-4099-ab9b-013268585564 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:7875232c-af61-4051-aa8b-6d91f9b296c4 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:f066cc2b-68cf-433a-ac8e-d19543222162 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:7d8017ff-72ae-44fb-8ca1-29a23bb5e5a9 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:0bcb6476-7437-463c-b9de-ca0e53fb6a3d phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:a48952e9-c751-4987-8635-b41dbcdcecbf phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:f9eaf92a-cbab-4dbb-83d7-d507b36e2aeb phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:d1ee3151-26d4-417b-8f7a-d7b0f301d2cf phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:5146f4fb-1934-4989-aa7b-fd84c9ddd745 phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:db7cfdda-ffd6-41cc-ae6c-3862ced3936b phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:709d2959-b43a-4d9e-908e-978352de0b77 phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:59befd06-7d59-474a-a97b-5d156e3c65cd phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:f26c60a4-5699-411c-ab46-5797d54138a1 phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:1161d4cf-89d8-4e81-b35e-0361362156a4 phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:5548126c-1f34-4ab6-a7ae-146b59ff8d5d phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:961cbf16-cb6d-41d7-b00e-cfb0b710337a phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:c6b0e15c-538b-4960-b675-d41cead2ef89 phenopacket.store:ITPR1.PMID_35743164_P1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:e5e9adfe-ae1e-422f-ae9e-6ed69529a1fb phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:19f1545f-798d-461b-8f56-4cb8966779d6 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:e486fa14-9704-48f9-b291-b626a5d0d544 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:e741142c-4df5-42fc-a686-1236f20727c4 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:5227bbfa-a249-4618-97bd-ad770cd1993f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:f430ab46-0bfd-47cb-85c6-228de428cafb phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:193ec887-c519-4539-bdb3-7526f8fdf2ee phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:281a9945-2c02-49a9-9a01-9b328a4cd5e8 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:4cd89f4f-3cea-4a52-8300-449bb4227b6f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e5534911-0db3-43a9-aa91-9fd11bf9ef02 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:26b8153d-f86a-4d0f-843e-000ecae8605d phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:d8e3981b-6c72-4427-923a-a945bc92e9aa phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:56609b8e-ee80-4643-807e-1fcf50388031 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e2e2aac2-29ee-4cde-9707-9928e4403bb9 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e2c88eac-3212-439b-99e7-57fac55a6e1b phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:c8371bef-47db-4be5-a3a1-d573f1f25dac phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:094487d9-c74d-4bea-aac6-ac4286ff8e30 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:eb368567-b664-4255-9acb-575595762316 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:8b00305d-f78c-40e6-906d-a78a3a1a7bb7 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:20082166 uuid:f5866590-4d21-44a8-9386-8253378c2e43 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:9f656414-2c29-4bcd-94d5-cd1626d44a53 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:21f1a5b6-1f7f-41cd-9889-324765471c33 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f72b58f6-2e8b-4bce-b86a-c6ca62b92bd2 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:02112549-e693-4743-a107-e93a19d301f4 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:9e235490-46b3-41ef-acd8-2d65fd96012f phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a145535f-bc84-4a58-ac4d-019e445cad2f phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:81605c32-0aa6-49a8-a3e2-93b68b78c342 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1d3bd061-5048-4924-91d2-032e2b889928 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:05670cd7-9571-44e9-ae9d-828c361defbd phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0a383c08-0afb-4af1-b739-cbd970a319df phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:bb0ebf5a-0a3d-4604-923c-2d66e2f1070b phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:77467552-f812-495b-861c-5b77bb27ccac phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9445ff15-7299-4891-89ae-b4a50c5a58ec phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:17f57ace-07f2-4038-b4df-575c9d4996a4 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:048bd49f-f6fe-401b-b27c-968d3eef9f0d phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:f63fd2f4-aa59-476e-94d6-f335d6b9cc8b phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:f4cdb8a7-503e-4faa-9f4f-32e4c5e35b22 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:92fca220-c39b-49d5-88c8-f82e6e5dc384 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:7eeb52a2-003d-4736-85f5-0d2198c59db3 phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:facdbd7b-1202-4be6-873c-5b57ffd36f6e phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:30eeec5f-6b16-4fcc-98cf-d101d51a50ad phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:81f45da1-cc0e-43ba-84a3-d3e0d77a13f2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:fbc0cab3-4b72-4319-bed7-cae54acdca41 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:401e7ea8-6318-450c-a181-9ec7a2ebb3fb phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2cd2c523-d4fb-4519-877b-53d8e05a361b phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:187eb594-5044-4e2f-b015-cf737c6b57e2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:90b674d6-64ca-4137-a8b0-ec2d238af4e8 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:cc722490-0551-41d6-b141-a78332ad85a2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:0a98ab10-8e84-4e4d-9e9c-e5825da98dd2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:37964426 uuid:65b18df6-5469-4d5b-beee-afb221ca6e7d phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:9511008f-ec4e-407f-aa03-6e5c80fe22d8 phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:ac01efba-0358-4fea-a444-594858d31e7b phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:32d459b8-f72e-4f60-acda-fd9508c3493b phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:70c4b03c-3d1d-4621-a784-16219d792c02 phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:eef7917c-4b5b-4c11-ab56-834de23a50e6 phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:5246b383-fcb0-4cfa-9edb-dadd74716994 phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:37ffa7c7-31bc-4d7c-a5df-fe901d799c29 phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:9c5e0ce8-f089-4af0-8dc3-ed7ffada001d phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:22986007 uuid:9fbae294-d11e-4f2d-ba9b-b94b0f73e5ea phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22986007 uuid:1e14646e-ba2d-439b-b158-85dd96a9dcaf phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:d9ef1905-ce5d-44cc-bd7d-9ed07894b439 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:2b0f1390-5516-4522-bb8c-c90402ece3c3 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:d255a003-61a8-4d85-92dc-71916cdec2b4 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:db7f5dc3-5c36-44b3-8eee-fd4ba962c72c phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:80f2418f-ef4a-4fff-a4b3-75462dd0ad9d phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:ff8a4852-735e-4ac2-8b46-e44987495749 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:9240a1da-0bee-4f68-8bdb-3aa1cb7721df phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0004428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:c4dfd4fc-c4cf-4384-886d-7f9cddc8efb3 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:543d0c77-5fd8-4144-83b9-2fc73f8935cd phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:206f52d0-93d0-4366-a60f-9df8ea64c88b phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:397d5457-677d-4cb8-87c4-321f662745e8 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:37128a4e-11ef-48a8-b98a-f5c91314e3b7 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0025335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:fbeeac2a-fed2-463f-b460-fb30aece2885 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:b1c57b13-53e4-4664-b93f-028ae26c279d phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:a10e7082-c7a7-403f-aafb-68e7616f0b70 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0004396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:bcce3fec-21ec-400b-a300-59e2d858a090 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0009049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:5f819620-0595-41ed-aeb3-e65cb21c1a25 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0012428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:0961b211-c768-4678-a59d-5ea33e5d0aa6 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:c37a4cf0-10ab-4021-ab40-6a92fb8174de phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:acaf708d-f686-48d4-9ff3-9eb4c4b97d09 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:e9d341f6-eb60-43cd-a8d4-fe61e8d2c6a2 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:d0fd9663-bf78-4807-9cad-b3e53e2ea997 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:2bbc9ed1-da3c-4cb5-8bcb-ab18b57bef27 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:3c48df38-696f-4aff-911f-49dcdf60b8d4 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0000555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:d1c97fb9-5e54-4660-940f-c3ed2a289055 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37821226 uuid:7b13604a-7f29-4b8b-a5cf-07e36ad748a9 phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37821226 uuid:cd78590d-a4ee-44bd-8348-eb9c59e45a5c phenopacket.store:ITPR1.PMID_37821226_P2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37821226 uuid:1c567dbb-6704-49dc-b724-a453223d0bc0 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:370f5e42-c1d5-4a65-8076-5504d3fbd53e phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d65e5245-8a6b-475e-81cc-5b5d64b0c1ba phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:46c6fe96-41ac-4933-a430-d63c0f2d9cfe phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:11f644df-0992-4b80-817f-4ed3c8b6bff5 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c575cdd6-9b06-4490-97c7-94e2dd606c71 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5fb31b50-46b9-448a-88a5-050eb817ed4c phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ba36df89-098e-4e39-a684-301ecc268e5e phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0134f372-628c-45f0-9045-265c31b8c265 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:fff46db1-3e52-45d4-a0b0-fc302e9d03a4 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:e2476e19-2f22-44cb-9a75-050ea5df7a19 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:09fc3b90-f012-4a35-8283-af4cda38c476 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:777cbb26-b628-416e-862f-0b3b885e7a47 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:a126b760-311d-4e61-9299-b194c1e25d80 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:d43a9bee-1b2c-491c-aa05-8ac96ea56692 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:4e8980ef-5482-47d1-b9f1-d9b2e5643c77 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:8e0055d9-7013-4d0a-8205-10ba7b2250c1 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:89042251-39a8-4b57-8037-b1f8db510df7 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:caf24ffe-b6b1-4513-acb6-229eca5d2b14 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:dacd765b-a8cb-45ec-a27c-bd507b2545e4 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:8684a154-71eb-46ca-ad90-fbdc83fb3d7b phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:cfdeed33-a288-4343-8296-557c6bb242c6 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:6d389e7d-b3fc-4b1a-bf91-bfa6dc0e0afe phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:3f2688a7-cac3-49bc-bc77-c102d3e78f7e phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:3d8f0fa3-fdcb-481a-bfff-4d9f3f409c7d phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:db5424b2-f5bf-4243-b98b-6f2c885fab40 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:643bc933-5d59-4f7a-a4f5-76554695b379 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:58d1083f-0ed4-4293-8a34-beeae19bb201 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:e390c4a9-af3c-4761-862e-5ab6b44c53ae phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:b0eb8c12-da86-4de3-88ea-6fabf0e1a099 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:ad4c5b32-7347-4ce2-b146-c96a9bb4cc71 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:a85264ea-1395-47d6-8df1-26285d5e0861 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:44e79dcb-f2f5-434e-a276-9b2f308eccca phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:24d4d76c-7f05-4106-a746-586b7020f5c7 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:57fe416f-8627-44dc-a7e7-1e6c20f12a6d phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:18b2c7d3-68d8-4b16-bada-c1fe13cc5d58 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:01ee3635-e8a5-4203-b068-452727d66f58 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:6a4b53c8-abd2-411e-bb07-ade7d666daf5 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:037e9a6b-46ef-44d4-a36f-c9880cf924df phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:174ee0ac-25f9-4ac8-8c4b-bf8fe5a3735c phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e4cdb5e7-3e7c-47a9-9acb-bb28476e77cc phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:bbae87a5-26b4-4e6a-b9e6-db24100f0ac0 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:aeb0ce18-5c34-43a7-b73a-f583514b624d phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:4fbd14c4-02d2-4770-b165-1b1caa4305cf phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P56Y infores:phenopacket-store PMID:20082166 uuid:f57fa635-d0ac-4ff7-a362-b87f224e81fb phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:56bd056a-191f-4bc5-8c1f-90581683b902 phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c3be57c5-e7e6-4159-9433-f004f348a881 phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8a58159d-31c1-44a8-b9d6-875f2af4685a phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4386ad24-8f39-45aa-9be5-f5f540073f03 phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:eeea48ee-c8c4-47b7-a246-2257e0ef0285 phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:3c505118-c7f8-436b-a8a3-4b7f7f088673 phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:15cc22aa-12cc-4f4b-abab-e5c6c5faf4a4 phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:12a6ffc3-184a-44eb-b875-786438b7a012 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:08780c5a-d441-462b-9fb7-bbaee3837424 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:fc0a43cf-a883-44c0-a924-6b8ffd07be27 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:e0c939f1-12e0-40e8-9f7c-e073131c5750 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dc3b21ac-bf6a-4a6b-a524-8beec98d2025 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6ba4708c-7647-4aae-be62-0fb2653854a8 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ec76d896-6571-499a-bb51-0cefd4fb5cee phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:dfb709e8-29c7-4b2b-a340-361c1ef678aa phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b372f51d-007d-4c1b-b164-dd427ccb6e60 phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:20357e48-6a66-47c0-a033-83ffaaa75f6a phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:f75bc98b-96b1-4b80-b490-309fe4647f17 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:8860624a-cf51-4b06-a64c-4cc9cb82e8f1 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:528e9af2-86bd-456d-9358-741ecd9e37c3 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:faa7d0ad-a33a-47a7-b6f2-0177eb2b1395 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:5c0d16cb-7c9d-418d-ac8b-b05deca2bd58 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:7589bfac-f615-4a1b-bab5-8ee1bf5d72a8 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:c474fec8-d683-499b-b58e-d434892f49a6 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:3b825e49-c3c7-4787-b4a7-0606869b8b64 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:b9d859aa-522a-4e7f-ab20-421cef7f0a17 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:2ea1dfcf-4344-4738-8ec2-16f1be4d9469 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:a1127356-6df5-4e55-a824-f2eb0f60ebe7 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:3c2eb654-4cf5-497f-8fd7-124f0e4cfc44 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:e77d9f78-d524-4266-a891-499a6ba58a1a phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:ab4699a1-90d2-4a6f-a540-8b7a54b88317 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:d03536c5-707e-4a46-af5f-0d5449999800 phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:05c43cac-0622-4696-8dbc-d135b6f6b57d phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:b5b51c42-cd96-4bcd-9e33-be7d76b55728 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:244494cd-0485-4e5f-84bf-2e48b206cec5 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:8d6adfc1-e9ba-4a49-8cbc-fc6ac6f9a7aa phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:30c2ff2b-166c-4a5d-a864-c5a9c164a496 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:e45ae648-768a-4897-a259-441fdb3f375f phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:1c610da2-e092-457c-9057-c4113a288b9e phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:7f51fb0f-cb78-42e0-a38b-ccb23d617485 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:49c3bee6-90fa-47c0-8693-95e58240db9b phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:885ec40a-f24d-4761-a103-a210e85179d2 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:a3a021f0-65a1-4127-8f5f-6137349b8459 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:26d2a582-f970-4706-ba78-d3272259d77a phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:50913cf3-57ea-4316-ab29-ba444e9df667 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:c974ce7b-faf9-417a-87b1-2a9a56beb120 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:a44b8f85-f4b6-48fa-bc90-b94c644b8a31 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:9e069fec-1b5d-44b7-834c-ad6bc8f16da4 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:76b5b8b8-348b-4ecc-846b-1c9b813fbefe phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:22566c80-4d02-481f-a2e7-00669ced44ee phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:1b24fbd3-e7db-44e6-bdad-9c954d1e30d2 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:4a6982ec-7233-4fe8-b199-ba294d90e0e5 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29663667 uuid:8b975545-4ac1-488a-9355-13959426c240 phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29663667 uuid:528629d5-8232-40e4-aeea-452b689b7956 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f3946944-12f5-40c9-abc8-6db2c1ea2a7e phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:24faaba9-cc83-4b78-bafb-f487aae7cecb phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c869c8ec-93c0-4269-9c2c-fbe391906b6a phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a2e9fc35-70a6-4b26-9c8c-b160604c3b54 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:be43c610-bcc0-4034-ac78-9eaaebdaefd6 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:97d0cccf-abac-4e16-89f7-6ebdd088385f phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b52a3ef4-da3c-4d7b-b5c9-2ada9eaaeb50 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:309067b7-6eae-45cc-ad55-5032a1528604 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a3c865b6-5d43-4264-9d22-376cffde0346 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37964426 uuid:2f160d42-5966-438f-a5a0-d0a694c052c3 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:080ffd08-ede5-4b7f-9aa9-79ab16dabe98 phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:ef1f5893-c463-4558-a830-c83a4a097e99 phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:f3dfb6e8-c20f-48b6-bdf6-8e145c4b0b9b phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:af998d34-6997-4af6-bebb-74a48e491a3a phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:8118b847-2080-4f55-86fe-8cc1580cd7ba phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:94101c6c-2398-4cda-bd84-cc1c47b2bde7 phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:aa8f7503-3686-411e-be56-8be16009a62c phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:bb3514ba-367a-4183-9370-873fa1caf076 phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:6caadb11-8eea-459e-9335-16d2f34aec1b phenopacket.store:ITPR1.PMID_35743164_P15 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:54b6be8f-14f7-47de-ac56-8ed9264220c8 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:82b9f7b9-63a3-4820-a498-544925c16ffa phenopacket.store:ITPR1.PMID_34338282_GLSP_family_3 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:1bf53481-2c84-4ce6-8567-0560a0e457eb phenopacket.store:ITPR1.PMID_34338282_GLSP_family_3 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:2c602462-50da-4aaa-8dbe-e7be75ea441b phenopacket.store:ITPR1.PMID_34338282_GLSP_family_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:17d43f61-ba89-4dbb-9272-fc68e80db4e4 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:85a44dcc-5e27-4dfb-a4dd-17c302bc3dc7 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:11a86a94-4b83-4168-b56c-ee459609744f phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d3dad6bc-c488-4fb4-966c-7523a40dff85 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2fee511d-6b10-4a9b-b931-3bcc837f55b0 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c7bfd291-71e2-490a-8181-65000fbe8163 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f3b5bad4-4895-4ed7-9a47-3884ff65507d phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0c339147-9c9b-4d98-979f-942cae5e9f9c phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5c0e2ad1-b9ec-43b1-b0ac-4c01b00a075f phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9d13e8a9-7efa-423e-bb68-40f987c5bdd8 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37964426 uuid:32919e19-7f8f-4b76-a1fb-bc621ee520b9 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:eb698428-762d-467a-aa49-ac1a0b64d8f8 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:5dcd8174-f452-4980-8fbf-ea1f0b68298c phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:2db4fa51-b5df-49a1-9358-3db15670f1b6 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:1901269a-0c14-4b4d-8f92-7e9f9c490727 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:07770114-f008-4d23-abbe-02442407ca7c phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:5887c7b6-ef1c-44a7-b997-c828e07e4b65 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:c80eb77f-7dbd-4579-819a-5a48f7f075eb phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:8807ee8a-1227-41fe-afe2-5771a8d328a5 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:e8254ee9-3354-4adc-8aa2-7ed4bc2c2d3b phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:0c22c9d1-a00d-4e03-a3c5-21f30af68c51 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:39760842-5a09-4dcf-83fb-59c50be6029c phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:ecd51200-182c-4b06-abcf-7a91c9b3254b phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:77f26160-cecd-4e05-b30b-1b14f00e42fc phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:b2071af6-469f-4650-91dd-5e314280f920 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:84348ccf-3283-4d92-9a4e-c215eef87001 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:8d633be7-66aa-4b3e-9fb8-d7cbbbf9823f phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:7aa7f861-25de-4b9a-b474-b80e93fa2069 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K279E biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2b6f18d3-3e8a-4651-badb-e488052f4477 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K279E biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5c07fb82-72dc-489a-8976-1b977bf9f2d8 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K279E biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:bc0d5fb3-52e9-479a-85f6-285f6ad81c56 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K279E biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:e958436d-fda0-40e9-b024-b735461f3062 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K279E biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:d0446c0a-dfbd-47d1-bf68-eef7965faa4e phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:e5e20fe4-c8ff-422a-85e7-de5946bec23b phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:b3bf97ec-87d6-4c71-bb3c-ddfd9320e948 phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:94be1eac-cb9e-4588-b3f0-24ca42e4d395 phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:256f883a-bc9d-410b-ac67-63347dc0cd7f phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:dcce0d50-4f88-4c65-a052-5271b1a52486 phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:e018dc4c-aefe-46df-a4c1-735ba60b9c59 phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:0e24ebef-00e2-4dbc-9c90-fe4dd21e0bbb phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:73bca65e-0c7b-45a7-80a4-2b3629bf6562 phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:c15e9b89-4899-405e-85c3-d15cd5fef965 phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:e1fc20a9-c898-44bf-b75a-b0d9ef6baae7 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:00aa0af0-d1ea-4155-8682-e3d4f2094134 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:91a3adb6-0a45-4919-adce-1726228eb258 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:a3a6cd89-58d0-4770-8677-614542c27855 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:4d56f403-0aae-47ac-bd58-d65df0497ff8 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:2813bf87-bf23-4c0e-83dc-bae03f07955f phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:cd6efdb3-b8fe-4a10-836a-d08dc0ff7fce phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:fd678e51-5eac-495e-822e-1b305db5fb58 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:a395386f-cef0-4317-b775-d1faba178419 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:b0e587c9-f6df-4df1-9673-ce0f2440c3d5 phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:635b28c1-c30f-4e7b-8485-b2be3f9d5c82 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:8b8a5f10-146d-4fc4-9853-3ece39525ec0 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:62fd1bae-5604-4e65-9d77-8dc69f386912 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:224baeac-bcdf-455a-a832-87c4b1d0a371 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:951fcde7-4343-44a7-9fe1-631969575a2b phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:0da64a86-07d9-493f-87fa-c7f562d5ffd5 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:e17cf767-2000-4fe2-adb7-fe9e6cd4fdc7 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0033128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:29138ef4-acc4-40e1-9da9-d14a9092920e phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:265a2fb7-62bb-4f9d-8875-933d042c32e8 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:661f569c-b65c-4316-b58a-0b78a17177fc phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:92be3d66-26e6-4a49-b9c4-eb2c0e12b86b phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:aebd1e1e-0429-4f97-9a31-fe2207faaac4 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:d55d2e88-a748-4299-8f62-6ea5747a405c phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:6af67424-605b-45fa-85c9-10ffb1dde32b phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28826917 uuid:3c2547f1-06dd-4eeb-9930-a3f583590595 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28826917 uuid:ab23066b-1a90-4d2b-8885-ba8419fa1750 phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28826917 uuid:e043d4c5-5fc8-43f4-ab53-ad159e7f85e7 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:e6fba933-caf2-43b9-b60c-1c970e31234c phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:84904111-db3f-4959-8ef0-69551ec6c1ed phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1330fb0a-400f-462c-ae34-0144df024a6c phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:83be4166-2f5d-4890-bafe-90fbbcc297de phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:bd973996-865c-4c22-a305-e52cdb52bbab phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c4fff1c9-7588-4181-bba9-c847ec82b389 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:fc120797-33a0-4544-b8ec-9d6de1605db1 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:73ed0b69-38ac-4fc1-98a5-5fdfe620067a phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:479dbdda-f9ea-4e71-99fa-f4a1219872a3 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b849e43a-687f-442f-9341-8bcd56f5809b phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:ad0ffa8a-de50-4213-a953-e14a64c97fc1 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dfed7d8e-c417-44c5-ae8c-8fe57a6da41b phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:9e93eda5-bad9-42ec-95e6-a493a0b12987 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:d0bcd082-10e3-4efc-8500-115e322eb61a phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:409cbf0b-85c4-4488-8c93-fd7dded6541a phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:09688781-36a2-45d4-bc70-af3b71c18dbb phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27862915 uuid:26eafd65-fe5f-4891-a1b2-d89bee28c137 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27862915 uuid:5c4fd392-bdc2-4311-847b-48b4bc3eddc2 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27862915 uuid:59633ba8-991b-42ab-ae7c-947e789b3336 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27862915 uuid:43ab7b11-efeb-416b-881d-ef313418c976 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27862915 uuid:bf6195d3-1b8b-40b9-aa35-6c8fbab4d047 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27862915 uuid:4a5f9d7f-4f20-45b4-9fc9-a3142a83d971 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27862915 uuid:bf67e5b3-e637-4421-8972-b13e2e2031cb phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27862915 uuid:46bce317-c70b-44df-8592-e07e801f62fa phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27862915 uuid:b4b9652c-f556-452b-8bb6-2374b0b73e5e phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27862915 uuid:18186c28-0185-49bc-8322-97ed36c0f245 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27862915 uuid:d8ec126d-baff-4885-8328-1aea3a74360c phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0007885 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27862915 uuid:06c2d992-0479-40ac-bf19-4ce4ff36d6a8 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27862915 uuid:f3792f50-6c08-4695-a1b3-2b27c0d6eb2e phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27862915 uuid:57c5b400-3d0c-487d-8f42-4da409030073 phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:27862915 uuid:4e3cb880-5400-42b9-b7bc-68709f51a9bc phenopacket.store:ITPR1.PMID_27862915_patient biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27862915 uuid:c0f20d4c-975c-4b92-b322-02f6369b0f53 phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:8d747da9-e779-45d4-83ce-6830e418c4c2 phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:903b0372-c7e1-4aa4-8817-6c9b3cbab679 phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:ce34a886-f1de-4e5a-a415-4d95838fc4e3 phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:40f6e4de-20e8-4350-a931-93ccbb36d12d phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:84eb6da0-b487-4413-95f9-1190e80609d4 phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:cbdf2277-e438-42d9-93a5-bb8652d51e03 phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:3b9a9c5c-ae33-4dd9-ba5a-25a0578056de phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:a449aa0f-bac4-4270-867f-061634619a0a phenopacket.store:ITPR1.PMID_35743164_P16 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:dfa984a6-8977-4211-a859-ab683538379d phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:8566e99d-c9da-4aa0-936a-922cd2fd0494 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:f6d34b52-e430-4a12-a097-48d60e15d66d phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:69932a39-aba6-4b67-bdad-3d6f2b8efa5c phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:11fcdbc1-87c6-48d5-8a60-0f91afb4e5f6 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:292f2c0b-21ca-4eb7-b63b-eaacd078c138 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:d715bd92-bd18-4409-818c-fde75258931b phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:b937eeb3-16b2-4c36-ab9a-c27b8a4420b5 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:0e3c9e94-0416-42ae-9f2e-5f9e84a0a066 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:44f51c7a-3db3-4e8c-af46-6808f3530416 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:c6d7bf9f-97b2-4911-bbc0-b58da7d01526 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:b362698b-ee14-41a4-b28f-c4f08f4864c7 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29663667 uuid:ed3cba98-29d4-4391-8356-d88ae7bd1aee phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:b4198d2e-c4ab-46ce-977d-cd7ca1057758 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:0a40cf82-b753-4a48-9af3-2c2aceb0f26d phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:81c29130-7519-4425-a4aa-c26b5c086a31 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:b12854ea-01c6-442c-9d31-4983a5e3e6af phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:54edd99a-0629-4b97-a6a0-aaa6e1175d94 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29663667 uuid:42b7e6bd-b527-451f-8ebc-b79a590417ff phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29663667 uuid:6762f842-be41-4657-9700-dfa2ec2f17c4 phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29663667 uuid:6991aef7-f2b6-4e73-b900-2cd4be8fb17c phenopacket.store:ITPR1.PMID_34338282_GLSP_family_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:1e391029-a311-4b8b-9a53-c8967787e552 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:49f47917-b77b-4a4a-a0ad-320e7a243dc7 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:6f621728-1f42-4b66-91ad-920dac848830 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:afd287e7-80e5-45b7-9d71-ac10ac313016 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P67Y infores:phenopacket-store PMID:21367767 uuid:266d1424-cfce-45ff-9fc5-470c023f971f phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P69Y infores:phenopacket-store PMID:21367767 uuid:733ba3d0-87f1-4d93-9c61-2a84945425bf phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:1847dcf9-73e3-4c59-9052-a1db52fde703 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:80541513-8393-4d46-80db-8349ee2ae3e6 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:3cfdb170-8ff9-4fb1-a182-430674598e8d phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:610a1fb3-070a-4d23-ba0f-2a0ae81b4494 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:0f64598c-bae0-4178-90c7-f52c7dfb04dc phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:5522c0c3-f22e-4e4d-8be9-dabdb6ee7ba5 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:0d88fdc8-43db-40e8-a186-a479291a44ba phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:f27b3751-20f7-49e3-944f-6683d9103df1 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:c03139e3-e5e8-4c4b-939d-1219c3fafff5 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:cf5fd802-1e51-4152-a11d-da8f8f1c2e71 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:01733e66-55ca-46c0-b493-1b2ad61d7727 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:efc2e930-14a0-44c5-9bd5-67c9af4f2db3 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:a23b2b64-5417-4d92-b8e3-c400482f8494 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:224bfcd2-926e-46b2-a700-c7ed8c4bcf44 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P67Y infores:phenopacket-store PMID:21367767 uuid:075560e0-9341-412a-9a62-418e2416e6fb phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:53c74145-eccc-480a-a21d-dbdc27bb4adb phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:4d0a2c9e-ff78-4f2d-b439-a7dc8dcc6bf8 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:356b1bd6-62ee-487f-bac8-c1362698a723 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:bf3db589-63ca-499c-afa6-422ce96b5a4f phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:27270376-b4a0-4ead-b3a3-77fb2ee88a83 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:3da7e9f9-3cad-4413-846b-16734733f366 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:1ed0f7da-1c5e-48b5-a79e-bae03894f9d6 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:42db5b1a-9732-409e-9fbd-e4c654e95945 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:613f83ea-4d92-4249-9183-a3aae3a4accf phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:378248af-afa8-47b7-b45e-35eec8d0fde2 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:626ab60c-ad56-4575-850a-e23a54625dcd phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:4d888089-ac8d-4b37-aa35-a41140cb5991 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:8b9a0720-d0a9-467e-b04d-0c95db8d9b8c phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:8bb6f67c-30c4-494c-8c97-1e27fcc332a3 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:7eb3c2eb-d8a6-4f9f-8ed6-3731b20b17fb phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:1f15297e-b53f-4582-8bee-83619f2d85c7 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:31a423be-abd1-4ae9-a295-f90f24dbe825 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:365de9f7-3b4f-439d-bd44-7208bd28e26d phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:60701dd3-477e-49b3-be47-63339825cdcd phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_phenotype HP:0030177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:48b704a4-47d6-4836-85db-fb47e4c763df phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:29925855 uuid:41670d23-0a1a-4beb-a136-1cfaf6e44677 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:6326af62-91fd-4a1f-98de-1040a58ed006 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:16cefd6e-02a7-4611-806e-3e99d6a1e168 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f4b1e0a4-5660-45df-ba24-24aef6955b7f phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1efd7cda-5134-4b05-ad86-7cac11386c8e phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:57c3e492-2652-4669-b674-726a02c31043 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1910e4e2-b97e-4f8d-bec5-cb995f3e3378 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b800bdec-ba14-41c6-8649-914c3a4cb3ad phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:340f0fda-d1d8-4000-9e71-e25ff55ed271 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:cbd11bfe-5258-43e2-99ba-3c639fd6e452 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:9a982bbe-ae5c-4efb-9ffd-a0699cd02dba phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:e4a770a5-47d6-4c1b-b020-b7898b83e282 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:21367767 uuid:eb1b351c-504a-4640-9546-9a94fc65dab0 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:889ee94e-faf9-4691-b328-54f503057f2f phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:5f71382f-a5a9-4b4a-8057-6c0c139cce56 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:d5399c24-b86b-459b-a41c-4daa42cc44c0 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:42c4a705-3a66-4a3f-a531-595d22955260 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:3dc02079-491c-41a7-a060-0e81c8ffc82a phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:50730d35-bf76-4034-8a2b-67ae289ae051 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:97362264-634c-485a-921d-38ef8d4c00d6 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:8571a728-89f7-4f04-b13f-e51a0c92296d phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:cf27e5ca-8cd3-4e14-8890-cb02efbc0f0b phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:2c737747-7f48-4fce-995a-babe5109cf7d phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:c44dbd96-8e61-4202-a467-24574b9a7f3a phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:e7dd5f53-bf66-4dc9-86e7-93c304fce171 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:5b9291f9-9422-44bb-8b67-3cd2be39f65c phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:45d5ae33-a23b-4f48-8e11-5338276df40b phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:610de621-407a-44f7-b245-6e4911aa6c81 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:21367767 uuid:eff50251-ec70-4a5e-ae8a-8d9902bc5952 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:a82d9b56-c6f6-45e0-8805-c3a98bfa50f2 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8f6f67d3-32a5-481e-9f30-6b1d88aed516 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4a3126f4-c3d1-44e0-a668-689d84d7cb96 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6faaef07-c545-452e-8931-6bbcb52d5826 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c0c08b5f-68ca-42ea-807f-b26fc0799f51 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:970438e3-14bf-4300-9810-f3c55733527a phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c63a6a7f-a7e3-40d9-96c6-d7295d3e577f phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:fedde00e-0116-4ed9-b2e7-d56c4e92db95 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f1a54ef0-3a84-4806-86a3-7c4a4713c5f5 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b54b5ff2-32b9-4c6f-8a0b-096ac6cf025f phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ce87ecb1-80b8-4668-9a05-fd564c8d4166 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37964426 uuid:94212e73-08aa-40c7-b70a-deb1d8f99da7 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:2551dc7f-0cfc-4463-b401-fdbaff336c8a phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:1af7b0ab-0181-4420-aa35-239973681240 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:f58a7d89-f3d3-41ef-a25c-5951742ee220 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:6c767fd1-b7b3-4790-9415-4ed33e7dd1ef phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:472b8fff-6fdc-4687-8325-7692873da4df phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:6479e062-5d17-43fa-9194-91e2cbdd5f20 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:bfbb6149-349f-48ce-ab9a-904b7a4c8f61 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:2fadda8a-fc7a-4021-9185-fd609b554144 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:a0f6c0e4-a50b-4dff-a6c4-f37b850b5fb0 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36233161 uuid:7a5277d2-8e25-4fd7-80d3-2710d819f57c phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36233161 uuid:fe881bd3-a4b1-4cad-80d3-80e4d1d40cf9 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:1c5c5c97-c759-48ef-b076-e56f26daa94b phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:d3b2f003-fde7-4981-a18d-c8c8f922bfe7 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:580405ec-ccbd-403a-9b9e-09e0579737fe phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:640adbef-cebd-4460-bca6-78040efefee4 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:e018caf4-3b75-4ba2-be91-ae9b8b3e2e43 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:1996c20b-d23e-4514-a3d5-2b10a3f0f5ee phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:204f8846-8b9c-4fda-8ae7-6dbe205f56a5 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:39009d33-fa20-40f9-97d2-e298da2b828b phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:673fd828-c84b-4e85-8fa9-abdaeaacc7c7 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:df40631c-81de-4933-99fe-8c28db310bb9 phenopacket.store:ITPR1.PMID_35743164_P12 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:7671987b-3562-4877-9f02-310f5fea8b25 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:236a9b6b-02c6-4514-8671-27912267f6fb phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a401ccb4-c707-4583-b544-74f1f05a296f phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ffe3655d-244f-4b16-b52b-e99af027d7ee phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:af288446-79d6-43bd-92ae-8db6149a25f2 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:9317cc19-5cf2-44c3-a28e-b6dd8764d9ab phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:cc1c50bc-7c7c-4b9e-93f8-86456e88f37c phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d2faced4-944a-4033-b600-f9374a48a9c4 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:674800ad-a807-4fbd-aca1-2d5428aefd97 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8ccb5efc-f570-4d35-aea6-002434f46994 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0760d488-12b2-4b5e-9be0-2409eeccbc5d phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:a2422719-d820-45f7-affe-a21529ab0c5a phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6cd9e56b-a4b5-4624-a65a-574335c20003 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:1cb93fdb-aef5-4942-a1e8-6cbd250a3566 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9fa33fef-733b-4ae1-922b-168e3664c8f6 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a5d9c4cb-116a-4828-890d-9405be927f31 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:3f6a9676-08a5-4a94-9b58-b20724f79612 phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:f6bd2dfc-6330-4bc9-b287-fe9bca939c11 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:7ef8d5aa-aed5-43de-9c43-da694bfabdda phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:d5b831df-13a0-4328-8bfb-7d75b1b18971 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:a6ea8222-6aad-4914-ba6f-57155b8c5452 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:56af1fe6-6d7c-4419-a0fa-81bb4d3ba96c phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:da8a72aa-761b-4a56-92f8-6dc2698c14db phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:5bb56eaf-dd2a-41ad-bd49-4f02467a6e45 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:d72f0409-6df2-4460-b876-b90afb305c5b phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:b71c2b73-3a72-4827-94d7-0b6e362b4fd4 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:c5c2ed37-1f3f-4f83-9a05-176812f9a44b phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:5e4e7ec4-620f-48a7-b085-de2fbf3c65d4 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:e79c4ff2-91a0-4944-b070-e66dd42f57b3 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:12e03477-8847-44f8-9d98-4cac0956f373 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:50716bcb-9bad-4e40-b7ea-f1bb6d96eb72 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_phenotype HP:0040129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:81e6e947-fe0e-464b-a970-4a60471d41fb phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:888ec2b7-6f93-4cb6-a6a3-7d3b8d7cbdb2 phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:03aaff71-ff19-4751-a47b-ec124324ac19 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6bbd8463-6ed3-4687-be59-43f5365d65a6 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dd9768f2-f1fe-4abb-9b88-eb3f3063f753 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f628143d-0089-463f-8c22-27b18032e058 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3303bad0-4a4c-4709-8c9d-8382b5cf85bc phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b5479cd7-6348-4798-bd9a-fa934518a63c phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5a311b48-d5a2-45ab-8a51-baa9cfcf638b phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:32ef23b2-bcf3-4a61-bbc3-c187a58bea14 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:051c9758-4115-4362-8ee8-6800d18b00fa phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:1f4ed55e-598d-4802-a296-25e96cb0d73d phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:5eb6042a-369c-4ca1-ba90-1601e3651353 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:8f6dda1c-c56b-48bb-92e0-2b13608686ad phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:eaeb829f-ba5e-463b-98c4-dee5bcc56056 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:71400190-daf1-4ad4-b50c-4c3ac724baa2 phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:2a3a170b-e930-4b1e-b6f6-d4ef5af2ffae phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:757a6a7a-5362-4073-89c6-e7680c74f46e phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:51905cfb-6e7b-4f71-ba64-1853135f05e1 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:99290eb4-27c7-4955-a8a2-8c66785e2fee phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:02f40204-606a-4d55-b24e-ccd6b4216d10 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:419b426a-57db-4dd4-9f26-9c59461e40f2 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:fc00cb9d-b7ab-434e-853e-6453faa9331e phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:a2b5e6d4-ebb1-47b5-b89d-45e8c6cc7150 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:cfcf96f2-ada4-47ea-909b-adfb15521db7 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:a55d8d25-66a8-4f9e-90f1-1afc695fda97 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:6cd9510b-c801-4be8-ab02-3318e8e89029 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:13a04e39-a832-44e3-a2ad-250593433978 phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:34b3ec52-b2ea-4a4d-a4a6-f1f52c3c8a1b phenopacket.store:ITPR1.PMID_35743164_P18 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:bc8d4f0a-20b0-45e0-92e5-03fa87d83102 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0d76c166-c241-458c-ab68-6795f5f3162b phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6b2ccc75-1bf4-4ba2-a885-2b49713f71ce phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1da0978d-b200-4986-a3a0-da59a7f2a96b phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1a5e6995-7eef-403a-a61f-a81d47bc58ee phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6feece6a-24b1-43f0-8f27-e2c6563d1deb phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:05e8640b-0579-4d2e-8d39-0cc2ef1ecb00 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:75e75f41-585d-425f-88f5-dd3ae4e7a93b phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:84d9a8bb-f9b3-4dd9-b62d-297ffe90723b phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:bce5d459-fa59-4a05-b02a-529911db41cb phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37964426 uuid:b5117539-f663-4dac-b038-42d3e406054d phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:23a2b3b6-e51a-4774-bc22-340ea2d93810 phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:88c1c38e-1177-460d-8a56-d00c4ce786dc phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:110a704e-5ab4-414c-a9fd-15a0fdcbbec9 phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7529ff27-d574-4f1a-8b8f-ba71bc43c580 phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:48d2fcf1-269a-40a5-9558-b0a684d96109 phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5b161cf6-bd7e-4f18-bc51-814fca35f36b phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9c625237-eb9b-49f5-b072-36f50bc4b80c phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:c9d82ad5-869b-44f2-8ffd-12704304f5a4 phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:a6149297-c84a-45ae-957a-087bf4a6eb8a phenopacket.store:ITPR1.PMID_34338282_GLSP_family_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:693fdda3-7be2-4ad3-a8ff-154242bb1a4d phenopacket.store:ITPR1.PMID_34338282_GLSP_family_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:365ff4bc-b28e-4f39-b942-8994ae8fa4c6 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_2 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:bd2992b2-330a-4c53-8a37-c410d7227d52 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:e3778d8d-195c-4ead-8ce0-3fe80afeede7 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d150ce88-3200-4f6a-9b4b-ae3efef9cdb4 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:da26b70a-9f76-4e11-a295-588e641ed9a5 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f2b2be34-2957-41d9-86d6-9cf87e1acdf3 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f58cf8cd-570e-446b-9237-7d65b28a6532 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1459d1f3-2fc4-4359-9259-19ae820c6e8b phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4434111a-81a7-4e38-a04e-228ff72db70f phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:427b4355-e899-4d7b-a56d-653f900db9d2 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:8d81cd42-c0d2-4ab9-96bd-b1b9d2965853 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:e4ce74f8-a82c-4171-910d-181762da1822 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:faf01d14-2ad7-4168-9765-5121a16d04a8 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:e9adb439-e28d-4864-809e-ccccbf59811a phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:fffdc623-dd43-439f-864e-a057c02fefc1 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:9fc786e2-288a-45eb-8150-eba40fb454cd phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:5ae6c06c-96e4-4ccd-afeb-587920960c8f phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:5a03c285-275b-4e75-9ea3-1dc47d0445a9 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:37964426 uuid:62b13734-9fe8-4572-9e40-678632215da6 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:515ffa98-6ee0-4329-8ff9-1575500a1fc7 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c2a69f23-8d5c-476f-b67f-18a28048e4ee phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d5b713e7-ea43-446d-b659-0266e009f70e phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:6b899b59-4a7b-4618-aebd-458fc2198be4 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:e86e635c-978f-4e01-ba20-a2001fd0fa9d phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1196ca02-f064-4214-b10a-88b036e3773b phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c53e4c1a-fc09-4df6-bb4d-b4b8bc607c98 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:08e6fd8b-c846-4fac-98eb-f1237ef2e059 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ba9e9a3e-665e-4dfc-9876-34aaae9adf2c phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:f74cbaa8-f274-440f-883f-357ae0b5120a phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:8d2407a3-1e35-4356-b9ea-de4fb8b1fc48 phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:0e030313-1ec4-46a6-a3ae-2eb51ab9fbe4 phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6c0957b0-65c2-4628-baa2-aff71408145d phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6303ab0e-cb0a-409f-8f47-495b83109939 phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:29a827d4-6b1f-4da7-861a-9eeb3270c6cd phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:552ce9fa-48f4-4501-a43c-8a69ed74809f phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:44aa82b6-6f46-4ff5-b620-19cf4cddeaf4 phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:51c860c7-13cb-4cff-978b-e985b3ab3dd2 phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:61b4f117-1daf-4954-bbf5-af16bc611057 phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:09507ac5-e902-4d78-ac71-55ccf9945f7c phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:cb61c96e-c014-43a6-b824-cf37a300aa27 phenopacket.store:ITPR1.PMID_27108798_SW biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:b3e7cc25-725a-47e5-afa1-f8da05287683 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:1b5065df-d221-4926-ae43-a51cc4084438 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:91730426-13e7-4f0e-906b-95e49a9f8f4b phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:47875e77-94ec-45df-bf10-6ce626b97f47 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:50dda092-d44b-4c53-ad3b-b89fc49edb91 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:e0eb1db3-bea4-4265-a510-60e61b3c80c4 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:435cb6aa-c0f4-4f21-87ea-1483a2a54a8b phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:746822da-935b-4dc5-b401-97902e80d8ee phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:e14c42db-9cd3-4cef-ad8a-e821a0974ce5 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:947d385b-1df3-4d33-83c3-4e7673d1cf6a phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:2f80d7d2-9cf8-4b7a-9148-84a507f76d73 phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:33d79dd7-29f8-4808-91c5-ab816e64b07e phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:08ff981c-bfbf-4484-9264-213503a5175f phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:6cb58ee7-aea2-459b-bac8-93cfd63f398a phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:ac4aa151-82c2-4dc4-a17a-a076a38613d7 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:20037890-7b7c-4538-ae6a-e90e506339a0 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:f828ac20-573e-44be-929b-e73d11a82870 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:54be7292-9b91-4c70-b488-7658e1d1e9b2 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:d43808cb-60f4-422f-85cb-e0a560bccc18 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:9eda460e-4a40-499a-b227-ce19fbc55272 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:7408c369-9cf6-45b9-8518-8e0ab94f3765 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:db363ea8-9d11-42cb-8ce8-4ca63504ff0b phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:3a353313-b31a-403d-b74f-e139431302e4 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:938a41ac-1841-494a-a160-a59240ef55df phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:e9489f85-080f-4946-9986-e0ba3f77df8d phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:f9d22efe-8d1f-453b-8101-488674617a09 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0004428 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:15f67dda-8be4-4b24-b1df-d4113853e56b phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:f5d47fa3-3095-423a-9e3f-3e4829951a4e phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:df99ecb2-1f1a-46c0-a62e-4746ef8c9cea phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0011094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:d05247cc-3cea-437d-ba39-c9fba679597c phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:1c8f6350-7d5e-4c03-bdf0-5c1c3f267fc9 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0034435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:c58c49a6-5190-4be9-bc91-3e20c8447ef1 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:6838612c-8668-4c32-9021-a0bdfa0304f8 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0025335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:31ff186a-e1bd-4d0c-8743-64f59590be01 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:179d4d7c-5590-41dc-b4ff-5cdde329e0cf phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:1f949828-2728-4add-8eda-9ff81b9d0adc phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:e469edb0-3929-4a6f-8c12-a5c06cab2343 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:3389a491-a675-4816-87a2-fa7a0cac9f9e phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:b385b21a-6a01-4273-a7a7-f3543d1f8c47 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0430025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:7be5b5c0-e60f-430e-94d7-13633a544622 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:b58c206e-c661-4015-950d-89a86296cd66 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:fe7d7294-5d91-4fa5-b44a-63c4e808caba phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:03bd2ba2-774f-4ab2-a25f-0f87d24d381c phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0033683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:9529312c-1336-4a7b-89dd-169f36dd108d phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:ae4f3020-a65d-4f02-8dd6-a4a85bb97701 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:a225b9ff-c3a3-437f-a997-5a666224e976 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37821226 uuid:e250f8da-9a5a-45c0-9dea-1926834a30cc phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37821226 uuid:8a00b69c-b751-4b32-8c06-68363ae4c105 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37821226 uuid:fa7317e7-da55-4fbf-aaff-b975aa42e789 phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37821226 uuid:4e77851c-3222-4ad0-8bfd-d2267f05c45c phenopacket.store:ITPR1.PMID_37821226_P1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37821226 uuid:38e5d362-d54d-48c4-9567-437e403bd1b4 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b4d69537-4f30-43bd-be83-4d7d20a5f506 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:35461832-983b-434c-8961-ba9ba8da4b02 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:0ce02ce2-74c4-42af-8c8e-ccee35ff0308 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:aeaede86-4697-47e0-97a8-45bd57d19776 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:fe5f4c6a-e0ac-4f4d-be45-af218c982c30 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:96ae6331-5799-471d-bd70-d3fa885692fc phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b6a69925-5aea-4250-a157-f659c066b3cc phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:c7b4f8aa-8bf6-487b-8c2b-7dbb15a2ef00 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:791396ab-3471-4599-9fc8-8d1b01e4c844 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:38d0cd96-eec7-4da6-b779-e6f6e63f199b phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:0156f591-5770-472f-b106-b71655dcc899 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6f5038ef-65d0-4db5-bab7-f6a444455c4f phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:a5819570-af85-44ac-a7b4-e7c4cbd629e8 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:53fddb68-f52b-4b73-ab57-c4f3d1c4b156 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:934bcab0-49ec-4052-85c5-0c04969791e6 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6c4ed565-dd58-4bc3-b2fb-71eed686f3e9 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:3c765ffb-95c5-4aeb-b410-1bfce259c83d phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:d8a9d1eb-543b-43ba-ad27-2b80819e9b3c phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:9d361b39-6e48-48f2-85c9-11f20af69d43 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:a04c93eb-b4b7-4aec-adb4-69c23656fcd5 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:6d24482e-4aee-4b6e-85ba-31efc2762b64 phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:35d48776-b603-4cc2-8871-1e2a9d07b9da phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:522bcbf9-d19c-4765-b4ee-eb131eaa06aa phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:ce6a7e32-f877-4493-8811-c1b47fbeae5e phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:81520d2a-91d6-408c-b872-54bbd4ffcd01 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:6a106ccd-2523-46e6-ad98-869e4a4e1fb3 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:92ed4aba-aa7e-43ee-9384-588b7b2ba00e phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:1c89db8c-7359-4311-a066-d5461e6eae56 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:e5540208-1f3a-4330-be06-fe315f52831a phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:cf2bf606-afd1-4457-a64f-9e8c0639fd5f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:34aa92c9-4848-4f17-8946-b4af0aec4d7e phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:3cfd5045-ce2d-4bf2-ba15-7fafc365efeb phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:aee45aa0-651d-45fc-8216-ebe288462249 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:e5395119-50f1-4545-903f-5a50e7daf526 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:fb2e2e64-0d49-4125-a3ab-f5abc1cdb95a phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:84da3fbd-20f7-4dd5-9fc6-20f35294a0c9 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:6cf76a15-1cc3-48b9-b8e6-3826983b08e8 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:4c0f00ab-4296-4393-83d4-7a5bf5e56b62 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:9a90e8f7-b450-490e-982c-3483fdb65bf3 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:8c7095f0-b905-46c9-a062-edb557b8d46a phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:39196b8a-02b8-4e16-ae8b-6815dc242bc2 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:20082166 uuid:789897a2-780d-4a8b-9b8f-33372798cc0f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:65a6eaff-5b4f-4772-882b-e4e035368e35 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:aa8f489f-fc9a-49ab-b899-75248c12abba phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:db89a6b7-98f0-4d6b-973e-5cbdb0e5f630 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:196f536d-216f-462f-8aa3-70854f0616fa phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:38d40c7a-705e-42b1-a75e-7460fe780fa9 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:7c83f2ce-4483-4a5c-83df-f06a35aa5f61 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ff8ff7ec-c622-4c63-9072-170ee0d8ffd1 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:bc2eccb9-51e2-419f-a3fb-6dc2b7e64748 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:853f178d-c752-4a5b-84ca-0bdf428e8d9a phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:53bc9bd9-4013-41a7-b8dd-8cd3716f3316 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:12659307-3a40-45bb-b211-15824945221c phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:eef28bfc-6c9f-4a82-88c3-510aab29a3d8 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:773f3cd2-e935-45a2-a290-bd9e0639e5e2 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:647e6de2-9d65-4f6a-ab69-521891c9db22 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:4392f80d-f376-41a6-9d44-c280dfcad08f phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:39bf564c-b68c-4cd2-aff9-f1950ad936b7 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:4aa2669d-e071-4acc-9a19-aa033029e9fa phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:f4a81800-2413-41be-9a9c-a1f7a197197a phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:d0376090-002e-4825-ab80-539f8742689b phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:52146461-3af5-45b0-9e6a-129f1745e5cd phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:39859a7b-0509-4c4b-ad5e-d2b911335810 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:68c4e5dc-bd87-45e5-9468-ca6db283ba5c phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28826917 uuid:829ee4ee-77aa-4883-a685-6911ca50aa23 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28826917 uuid:a550da14-76a9-4af4-9d17-6c22f43800e0 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28826917 uuid:fa333d28-be53-45b4-814b-2911b0debe5b phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28826917 uuid:6d8f1313-32d5-4e6e-b939-5c2517b89f6e phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28826917 uuid:b59574a9-7bb9-4c7a-b6a3-cbcfc09495bc phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:21367767 uuid:cf5c0a43-1ef0-486d-9241-03a19843edbb phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:21367767 uuid:0a8bf1ff-0995-49a4-95bd-0d8e0fc07156 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:7b9753bf-6b15-40ce-827f-88b5b31b0205 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:092a0087-31d4-417d-84b3-4ffae301bf7c phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:93961c3d-9c87-47c7-83ac-752c086b3b74 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:c94ebc37-0a50-4c2c-81c2-5e4951434b7f phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:d063c335-d50f-4e76-b05d-377ae28e84e0 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:838b9ecf-046d-4693-996b-30d3a344f357 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:a45d1bb3-a700-4d43-9548-901062885ed7 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:37c74a2b-1702-45d8-ba93-0c4897a0c244 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:97bc0e5f-3329-443b-a672-cdc3ed4fe3a5 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:f0b0b0f8-5c7f-49f6-99c8-c1cc53123e77 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:92d40f1b-1804-49e0-9b93-e24faef02562 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:8c61d96f-779a-47c5-846d-cb4d92bb9f11 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:663b7deb-3362-41a3-8002-781f8337cd8a phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:532f7092-9a41-4350-83da-6c6ebfaffd3d phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:21367767 uuid:3472ed5e-9612-47eb-9a97-cd9577184c79 phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:1869c7e0-867b-4bf8-839a-74a014b21c34 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:23b25db3-dd3e-4d39-bb31-66d75d2aedcf phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:d5352670-f9b3-41e6-8d1d-d0c901b880fd phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:b26ce92a-275c-47be-b4da-9d380ef63d12 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:bebf747b-df2d-4ff3-92b1-b81ba8c6d554 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6b2074d2-6c7e-4513-a8b9-184aaab5734e phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:40b09d2a-d358-46cb-8805-39d3cb558c75 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:fa932e0f-7b7e-4ab8-bf69-5103a58bf895 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:6d5c9644-ec17-4a7a-a227-8d6c487eb271 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108798 uuid:38622560-d5c8-4caa-baf0-9cb3f50f77f1 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:d98341d0-3202-440b-a628-74cba8ffac69 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:52ff5327-c265-43cb-88cb-2fa82ea9db98 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:77d36775-43ec-4853-b762-33349f6a2df8 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108798 uuid:dfd9d217-4c68-47fe-9b1b-16b9bb141e66 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:001d074f-6c39-471a-90e7-a3c3f3c20521 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108798 uuid:e96496b8-28a6-4a9d-ab0c-2235f5d49c37 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:8a27a5b4-9c14-40cf-825a-ef86326cdd71 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:97023f91-14e7-4bf5-a0ca-6f12d32d68bb phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:f737e607-824e-4add-a2d4-a838bb5c84cf phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:d707ff31-7f15-4958-8e77-39b186a22683 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:8fb00d75-120c-41f2-9ae9-90c522e69c94 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:1437c5f6-30b7-4e08-b2f5-cda99a25182e phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P72Y infores:phenopacket-store PMID:20082166 uuid:974cf65b-4f5d-48fc-9b31-991ce2c6ccfe phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:074f8b9d-809f-40f3-afd1-804b5dc7906f phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:19796630-a468-45d7-bcd4-14a7da5fdea3 phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:fbf10b0b-fafb-4181-afd6-9b6798036f3f phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:8c814034-08f6-428a-84b4-8394e5e52e0a phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:4bbd01e1-cf0e-4ae4-8e91-a3cad0c37cd7 phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:ae208c1a-df99-4152-adb4-fa4f81ca2a37 phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:5155b917-5e08-481e-877a-c3e8165bf085 phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:07d886bd-fc9a-451d-be4a-ca91d65b8414 phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:d5462fcf-5a42-44f7-ab94-760cddbf4d5b phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:09f6f0e4-42dc-4ca8-8a51-d0785569e508 phenopacket.store:ITPR1.PMID_35743164_P11 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:5280e8fd-d8b8-4fec-81df-b63d22b33639 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:8673d36f-9424-4094-b2c8-2e5864086dd4 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27062503 uuid:c39fa820-86a7-49ea-a8ff-b4d17dc772bd phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:0f191e30-9911-4636-ae30-297f48654bd1 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:3b3d48f7-9ff3-4a6b-9440-03a39d4cf0b4 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:30568c04-0156-494a-abe0-8096a93c355c phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:cc89c4f4-ffb5-40cf-be0e-ef6538596a9f phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:b17703bc-b864-47cd-8d37-a547b81a24ad phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:ca4f7648-39a7-491b-bbb2-5479df527b86 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:cb4b18ac-f6e5-47cb-888d-d39bbb83af24 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27062503 uuid:dd1a6f41-8cd1-48c3-8054-282e461dea62 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:481b5c55-0950-4087-a1a8-69b67341e521 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:7a90fa8a-a221-4913-b6a9-604409d7d870 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:e3e98c4a-fb0e-4b19-9481-d7abfb347bfe phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:27fe8a8c-378a-46bc-b561-d20646fda9c1 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:22d37f64-72bb-47a1-b50f-f6b8367e0457 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:d0877486-0e5c-481e-9d60-4487af90421f phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:e1ccfd09-db6f-4de1-a1c2-1e68dcc77e58 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:12c8f6fa-d39e-4683-9a94-75a2bc548cb0 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:282c5b8f-e547-48ed-a599-0a8b64ef4bfe phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_phenotype HP:0007369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27062503 uuid:c29f3b9f-bf10-4ebf-ba14-995f65b7a968 phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:eefb55ec-637e-46be-9e60-994e83faf02c phenopacket.store:ITPR1.PMID_27062503_P1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27062503 uuid:1cd8f812-997e-4c4d-927f-882bff3ca341 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:7a419aa8-9291-43bb-8c6a-4f6f6debe976 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:1508f082-9c6b-4839-8578-2bc8f4e3a422 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:5323b9d4-d518-4d3c-aadc-b007711868a7 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:5a71f011-11f2-4038-b891-3ae5c3e143da phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:abcd087a-2332-4fcf-8493-cd8bc4a58c39 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:32e9d119-89d9-48da-a70b-eeb8da1dfcc6 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:18909271-4804-4eb5-92f8-5df458a4c42c phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:2d63655e-4292-4cba-8be0-039985bb8dc2 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:3198bdac-e2e5-4e48-8c1a-99444771132d phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:25952255-fd1d-4434-a6ef-d7fade771bf8 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:38c87e03-e35c-4a4b-9c4d-cde3280eca8f phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:d72e6fa9-5ee4-46fe-ba58-2aca90a25afa phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:0df35d11-d292-4fa5-b042-fe8580173dba phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:c606b6c8-8f03-41e8-9971-874277b42e7c phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:4481d29f-a6f9-4a0a-807c-ef3a7036e299 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:e5c76bbe-3c85-4808-a2fc-2749f121ed8c phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:f328d8c4-ca22-4bbf-aaed-618370a34449 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:312c8784-5e91-4bdd-8f0a-66a34608bd53 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0030177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:25507940-8141-4658-a94c-afb0bac639b3 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_phenotype HP:0012896 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:ebc548a9-a429-405c-8b15-ed98255efa01 phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:29925855 uuid:98eeb46b-c240-4465-9197-7d3a1d6d485f phenopacket.store:ITPR1.PMID_29925855_P7 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:27f7761b-b509-4249-af9c-d3aef886441f phenopacket.store:ITPR1.PMID_37964426_S6_L1873_V1874delins biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3b3dca9b-b3d8-4188-9d7b-5701016d1136 phenopacket.store:ITPR1.PMID_37964426_S6_L1873_V1874delins biolink:has_phenotype HP:0002442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d7857fef-fc3f-46f4-a6e5-0da009ba5c44 phenopacket.store:ITPR1.PMID_37964426_S6_L1873_V1874delins biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:ba14629a-844e-4324-a77c-2ca304b13f75 phenopacket.store:ITPR1.PMID_37964426_S6_L1873_V1874delins biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:3f5a1ddf-9460-4ccd-9235-121e95628a81 phenopacket.store:ITPR1.PMID_37964426_S6_L1873_V1874delins biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:d31cb44b-6af9-476e-ae97-96b5a118155b phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8e3d16ab-dab5-432e-ac2e-de34eeadb85b phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:1bea85c7-62a9-45a5-b53c-5f405c11a2d0 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ff69b340-2f06-4ddf-95f4-8e55136bf4c2 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:93030a61-dd01-4e40-a9a6-727b97958035 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:531720c7-1d32-4bce-9d9b-e7c51e611d3e phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:ba05d861-893c-4789-afde-7dfab8bd310c phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:68dda4cf-5d73-46e3-bd73-2ecacc104b39 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:765d3ab5-a9d6-4731-bcb0-bbb98e7df21c phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:889e983c-ba92-4b86-b22a-b84c9737ccd8 phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:c60fa26d-780d-4daa-9337-d3310ea82b1b phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:412cc80b-886d-4f13-a414-8e7cd70746e7 phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:48594fdf-912e-4637-a764-d61bb6b52c87 phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:3d04a662-d24e-458b-a5c6-eacf7ecc6add phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:03a1d458-31a6-4e44-88e1-59a53b5b918e phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:71bcbb16-993e-4264-97b2-0766b34e22db phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:2600e0f9-e80a-47ae-af42-8f5f5e5fef2e phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:3f651ec6-13b8-4046-bc7a-75b4649ef4f2 phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:29fba74a-8186-4b6f-b5f2-4214c0a10f4b phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:e262d8d8-dbe0-47cb-bda4-1041eb1f507f phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:122a8817-cfef-478a-a3e3-4ce0939d5a28 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:3df337d6-faa5-4155-b5a4-80a3c1f61152 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:787dc201-551e-4b60-8ad8-42695d236e75 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2c24bc74-382d-46c0-99ce-d8266d0fb6c5 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d67f784e-c1ca-499b-8b91-b60d0184a9b2 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4c52eecf-4b53-4ad9-9cc5-b33e39ab0043 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2918ac33-984c-4967-b656-aeff375ee1dc phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:fab388a5-2233-4ea9-a3e2-891cf1efa3be phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:79aab589-f970-4f58-94ea-bc9668a2f783 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:95798d72-b828-40b1-ac5a-e1bda14c9a35 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:eb708aca-fa65-43a0-b322-2b555fb880b5 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2dd8b7d9-9001-44a6-9485-bbdb0cf6f165 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:209cf16b-34af-4697-8b75-88540b7160d4 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:cb5f8f0c-1e97-41e9-9676-9ec48e122da3 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a1bf35af-9a25-4de2-ba75-51dc0cc9c5b2 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:ff9e5f0b-b0d7-46a9-be3e-022a88108b66 phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:46e488bd-fd3d-4218-80fc-73148f51a895 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:24091540 uuid:36a0f9c7-73b3-45e2-ac37-b92cad60d703 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:24091540 uuid:9c4829a6-3283-4908-9324-9a41aa5a9b17 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:8ed8e315-8bd8-4cbd-86b6-97d0181f4f0f phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:5df67dda-9f29-47c8-bb12-35c91b8dc3c2 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:64a0b9b9-4c81-47b1-b1c0-42497ba8d4fe phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:eb2e0837-5e0d-4d91-b976-199c779223c7 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:bab25d7c-549e-49a3-9a24-a1ed6fb1cead phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:10a25e43-80e2-42bf-b309-4a74d8562f2c phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24091540 uuid:85f96c66-c857-4300-9876-ee2de9ba0e47 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24091540 uuid:312d1e07-0cff-4fce-b7b6-b5c4c2aad5ba phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24091540 uuid:806b6b05-b069-4f98-ba5f-bc3643469a54 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24091540 uuid:1ffc16ff-d900-4e75-8add-131a724542b2 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24091540 uuid:1d7d25ab-0ed4-4c9d-bf08-7812fe9bc20d phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24091540 uuid:823252e5-b056-4e90-970c-d88a502b56b4 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24091540 uuid:82a57ef8-e230-4bf9-a834-9a645c5a5975 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:24091540 uuid:438782fa-bde9-45c3-a782-de32790b3416 phenopacket.store:ITPR1.PMID_24091540_nan biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24091540 uuid:e204f88d-66d1-4cff-b81d-2af6edf402ac phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:774f1fae-d5cd-4a76-a90b-3141607463ca phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:520122af-66cd-480f-9f9c-2997c0ecc7b9 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:79af885c-3c3e-4861-a41d-a89f979a3640 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:108a66eb-537d-4f9f-a4a2-ca1bc037a73d phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:a528dbec-88b3-45aa-b33a-5bfac9bf8355 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:7bfaa26e-6fcf-4aca-a789-16bac8caf41c phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34673285 uuid:96580716-e7ed-4057-a82a-1aece6eaaf43 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34673285 uuid:ef70bb56-0241-4596-96d2-6f62ada2be99 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34673285 uuid:e6aa44bc-02e2-49fd-87a3-75d8cd830eaa phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34673285 uuid:1756bb70-8f07-4a0b-9bc1-3a948f6f87f4 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34673285 uuid:b7488485-c63a-442f-b080-6625c0126180 phenopacket.store:ITPR1.PMID_34673285_man biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34673285 uuid:655663f1-4e9d-493b-9f86-0f61b57f697f phenopacket.store:ITPR1.PMID_34673285_man biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34673285 uuid:a5bba03f-6db1-42fa-b504-915df6a1fea3 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:9b1808d7-1aac-4383-9057-09997618ca80 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:ba93a208-0a10-491b-92d2-8a7038b6282e phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32496011 uuid:0aee34f3-443a-4335-8bc8-e2ce9483f8c4 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32496011 uuid:9770bebe-9810-4ef5-bbf6-48837b314025 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:ad74d9fa-a2c4-40a5-80a4-44c7786b8db8 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:71a58faa-5b33-4ddd-a839-d415b66945c2 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:bb3cd3a1-0646-4d5d-abd0-4006e2463f6d phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:b1ffa7e7-38e2-47d4-9a38-18ff9d05874a phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:36fd3898-db77-451d-896d-56d4cf7a085c phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:78aed3d3-b501-401b-8047-50157da9ed9c phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32496011 uuid:8cc50d20-7261-41e8-9263-fdaf6b5b5044 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32496011 uuid:8e469316-9273-4897-9b89-54f1134b075e phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32496011 uuid:e753124a-8ef1-435c-b0a5-2bbd645385b6 phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32496011 uuid:0bb65ff5-9900-44d3-9022-10cc4b83356e phenopacket.store:ITPR1.PMID_32496011_proband biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32496011 uuid:caed1205-d11e-4a53-a018-bbaebbb9a88d phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:54a10e56-7b71-4327-b929-5e6ad7415d55 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b4f1f552-6abe-495f-a646-bdae40ec187d phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2ead14a6-60dd-4b00-ae13-7afd0d953d98 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:968441f4-cca0-4b78-bac9-4359c3a35f7f phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:37e0c420-bb2a-4813-a5ee-acacebda3c74 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:43d4318a-16d3-4563-a399-5756c31a540c phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:af07550a-1d3f-4d6a-8c2f-33a5a9af4ed2 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:0878ff6b-45a9-4ce7-951a-a45856bf8089 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:bad92e36-f6a2-4306-93ef-96464e6d307e phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:fd37c936-9c51-4f3e-8cab-eaf810a62724 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:27690c59-20e7-4217-ae8f-0560e85e1489 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:72d76bb6-8a35-43ac-825a-8a3e0ad87365 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b52c33c0-a70a-4bc4-94d4-0abd4e2de9ea phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:ca65df21-bc11-40ea-998a-98e15fe7c49d phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37964426 uuid:c9338c15-ee3b-4b73-a8cb-fb3bc56e73bc phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:d67a5b5e-0246-4008-9832-5ee6dfe1d007 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:f314074a-a443-432f-8894-de9aa43f2811 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:2ef0b370-bc4a-48c9-966e-29d7e589d4d6 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:63611579-b400-48f2-995f-ed39ff9344f5 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:53489b4a-28c0-4bf6-adb2-8afe5edc7f1b phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:c728a4d8-e4e6-4a01-95dc-7259c9c16cc8 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:f7a95cea-7aac-415c-91fd-f7c38b45a103 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:128b0312-fa03-4ad8-9e85-8ffb9ceda5f7 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:f878a30f-177d-496f-9e32-1c63689cb0d9 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:5981bc23-1ef4-49cd-a5f1-006c96164e63 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:38043cc0-339a-4a9c-bfe5-96789c6e8130 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:8d8a6736-6821-4231-baa3-843cd9d8319c phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:84d4a528-a613-4c5f-8923-5d5e644774ba phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:fd3bc036-11d7-430f-a707-9c3b113b1613 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:c56024a5-aafc-46db-b78b-fb36dccc03b7 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:94d763b4-6c09-4276-bd94-8654678e82f3 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:2f9a15bd-f18a-4d14-a81f-603b7bc2b16f phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:52dc9038-0176-41d4-9bb8-658f75009746 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:86c59af5-e3b1-4f94-80e7-d40eef693120 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:a444f26b-0a12-48ea-a7ea-241ac23d4ed8 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:a7bc18ee-e2d9-4a1b-9b8a-790a6eb98df9 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:a2f2a741-4121-478e-b460-26052cf0bb6e phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20082166 uuid:ae932b10-f7ac-4f34-a585-bd092371359f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:b804edd5-87c0-4a51-ba29-3697f6c62825 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:24b88673-b570-4b15-8eb7-6184817e842e phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:2262d300-49f8-4c8c-8a7f-54eaea47f5c9 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:c2827dc2-c6d5-413f-b40a-633df417bdd5 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:503a00f4-d345-45fc-9187-c4dc4c59737f phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:00319e00-0ce2-4c6d-99f6-5b7c9a0692b7 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0006886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:fa42d78f-97cc-40c4-93e9-cbe90811e452 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:41b7bb91-20e6-497d-aa43-6f9d3d4b6a50 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:422c1bae-75fd-438c-b635-c61c89b46d12 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:96ce314b-d92f-4349-9ba7-f09498cc1b00 phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20082166 uuid:5609c357-8885-4022-abb6-b3dab0ec92fd phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:20082166 uuid:da6aec81-740b-4e1f-a033-ea136eb7f11d phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20082166 uuid:45991b09-1d7d-40c9-98b8-f4f378ae3491 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:c3695a6c-64c0-40d4-adad-dd9f75f98122 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:09ccf092-234e-4965-a638-36df49439685 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:217062fb-dbf4-4b13-8323-5ab448e9b510 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:ae2b95ad-8ece-4919-bcda-fc530df22de6 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:749e9181-bfa7-4190-9ce9-13d10ebec338 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:b5bdc1f6-0d3a-4908-8976-e9c3af8d36da phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:68ff3301-4aa8-4f00-aa57-a35c2ee1021a phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:278f5db7-5229-4de6-9a19-f81a9d2c04a5 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28600779 uuid:80f2941a-1e53-4fd8-b930-73b85bd49f3e phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28600779 uuid:ce9f9e3b-bf5a-466a-9492-4dde600cb779 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28600779 uuid:077fb4da-59fe-417e-90bc-7ce34ad288a2 phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28600779 uuid:2964f604-94de-4d59-8b7d-f85d560f1f9e phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:4a9fc57b-9910-48fb-b058-fa9d37b6d9ec phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:d5d8861e-23bc-44f1-be2f-e9599b8e9d74 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:8d11d77e-223d-4d09-9460-4a58af11aa25 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:1b226a77-89fb-4e95-9dd1-da6f4c947997 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0033128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:4c37ff7c-d34b-4c36-ad49-a1973e0b1ae0 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:2a11f5a7-82b7-43a5-943c-ace30fee4f68 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:69b3b11d-311f-4f45-ab55-a37138537267 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:9967932a-10f2-446e-a18b-7d53456d2131 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25981959 uuid:7d047342-07f3-451c-adf2-31a3eeddd5f3 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:24928f47-b840-4e77-b1f1-d71f0477b892 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:924c4809-9ef6-42e7-87d2-26edd6607a00 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:cada615b-e094-4fa7-9ce0-59d921598446 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25981959 uuid:e14369a8-4658-449c-9675-6c3ad03a7134 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25981959 uuid:444458ba-d7b1-4b5f-8d6e-8d04582b6e56 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25981959 uuid:8808f80a-450e-4523-aa18-e72b1ac48e8d phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:a02e542b-1986-40de-a103-8a0f4c2d3a19 phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:2aa9fc83-1c16-4d68-aeeb-588458349e0b phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:a9caf51c-5f78-486f-991d-d5e51e11d50c phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:fd8321cc-9b43-4fab-aee0-a2ff98770f63 phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:efbfe51c-a515-4d7c-bb75-df06cee73a89 phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:56051e81-5a13-461d-a1c0-09244c848e6a phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:dc4a43c9-9046-4213-90e9-aba7a4647f53 phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:29abbafb-4b97-46a9-934e-0f8fc373bc97 phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:2120f5be-e08b-4396-8d25-b0d21100e3cc phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:0c64c615-b5fd-41ba-a440-31d1690c2317 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:134194be-a8e1-4ca6-8d6f-f5ba62562bd7 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:092706c7-3cca-469c-aeb0-bd8bd4088043 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:fbefa6ba-e963-4594-a10a-9fb39602e08b phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:b1c9f934-8d8a-484e-8b5c-73bf82c018f5 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:24103b19-5feb-4175-883c-7db85bea9185 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36233161 uuid:cec36925-5e69-4d8e-bb60-4f93091125e3 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36233161 uuid:075eec39-6c4c-43c2-b655-592a16ea0f93 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36233161 uuid:367f469e-2eb8-415a-bdfc-9e80e0b25258 phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36233161 uuid:c41ee568-209f-4bdd-a4f8-9cce7d54a38b phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36233161 uuid:a2e61217-80be-4119-9a4c-59e10729f32f phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:37154409 uuid:8cbf4c1b-fbdf-4b35-a53b-225321c8585f phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:37154409 uuid:b6e35f48-6646-49eb-9d88-acf10db372f9 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:37154409 uuid:627c0840-d433-4b49-b66e-224bc01620f3 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:37154409 uuid:6b83c05a-0be1-4618-83d3-69334014b026 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:523a4efa-207f-45c2-9c6d-3823a4c6a893 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:fdfc35ed-1261-49b6-a5a8-bb6d652b585b phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:7cf30784-2e65-4120-89d9-99decfc930e8 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:069fc9cd-f0cb-4689-83cc-fc83c60b1bba phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:22e56e79-4546-4d73-8ba3-ddf7efdd27b2 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:6945afbf-c754-4f03-a6bd-e968bad8ebf2 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:adab2cf5-ec6f-47a5-80d1-b59ea89d1425 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:60b3de02-754c-4aba-866e-012de5157c73 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:889f108f-3725-49e3-bba7-a5e96302808b phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:6443d401-a5df-4e2d-a1ac-09abdb3f2ddc phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:9afb0f13-fd3d-487f-bc7b-baa0d4109e35 phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:ea2a4898-344b-463b-a092-177486d3908f phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:d3bb5f9c-c7cb-44ab-afc8-4e13a1dc154b phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P58Y infores:phenopacket-store PMID:37154409 uuid:ea494c6f-78e3-4167-8b51-a1e9015d036d phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37154409 uuid:b21704a9-386f-4863-9469-cde88f6fa266 phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0a2572a7-8032-4635-b98e-4f4d573724c6 phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ef97386e-abd4-4e79-a455-097ee7e89faf phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2caa8d5e-0153-4b4d-8909-68e92d9c5234 phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8a26af50-dcad-4f61-8fd2-2b2449ad7f3b phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:538b6b7a-703d-4db9-be3a-4366fe9ada3f phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:10caf342-444a-4928-9020-cf4455886943 phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:13dcd0b6-3227-4408-a84f-d8dcae2c169f phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f6902b8d-5d72-4c48-b43e-e103311fd407 phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ec8d10be-629d-444f-ab65-0b3fe4f26b6c phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:11c032a5-8e8f-407b-965c-214c86c96caa phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:49ee07f9-cbf6-4ef8-b9c4-c36fd5b5b307 phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:301562f8-29df-436c-95f9-69af8289c566 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:96c758f1-25a1-42a8-abe3-49535f24564b phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:39177731 uuid:15dabfa1-c7c2-4a33-a4a2-fa3bc8ad8cd3 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0009917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:39177731 uuid:fdf8733d-47fb-4ea8-9fa5-dd5f197b86d5 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:39177731 uuid:db38c4d0-54b0-42b2-b2f2-df3d6b8e2a71 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:39177731 uuid:54868ecb-06f6-47a0-9d2a-8b9bf528366c phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:39177731 uuid:abad8a4a-9234-46a2-8adf-0a986510b6a6 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y2M infores:phenopacket-store PMID:39177731 uuid:fd10390d-31de-40cf-b683-43d91ab1d955 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0008003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:39177731 uuid:f38992a0-d108-4bdc-8acf-43b7c591604e phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:45b5613c-54b4-477f-84c4-f76dbacd6b19 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:9cb29605-b532-4ad3-9a19-bd6eca29d9e5 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:662b1b48-9f85-4e4f-8c5d-d680898af227 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:cbf3d614-4e40-46f9-866f-127a320964e3 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:e8ad19bb-d8b0-4789-8b32-8f7ef5328c7f phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39177731 uuid:69a4ec46-e364-46d3-a18e-19d194a1a44b phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:100e02e2-07ce-4ca9-b18f-8d65a3bc0e24 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:66613e0d-141a-468a-9750-e0360ce4ed18 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:a5954795-b688-4356-b1c3-a0edd0cd4c99 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:cfaac6c2-8ead-43e8-a328-96a2b824e5b4 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:e8224ad3-2854-44dc-bf80-48cc8954454b phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:551e4bb5-2d8c-4b71-b4df-1149a2b3e438 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39177731 uuid:e1403421-4bab-4cb0-b1f7-890af2a4f8fb phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:39177731 uuid:c65a2ef7-4095-4709-ac92-51c834735f53 phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39177731 uuid:6ce7a92c-2f4a-4d0d-8696-064687bd3b1c phenopacket.store:ITPR1.PMID_34338282_GLSP_family_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:16e13366-29db-4c86-935b-c90d29fc4dd8 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_5 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34338282 uuid:61b6ec1f-e19a-412a-9eb4-9798af8793bf phenopacket.store:ITPR1.PMID_34338282_GLSP_family_5 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:b288b13e-1b39-4e6f-948b-24e05f8fec51 phenopacket.store:ITPR1.PMID_34338282_GLSP_family_5 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34338282 uuid:eab9649f-d2f6-4199-a8cf-6feba71388de phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:21367767 uuid:3f567bf3-6d0d-4609-b173-8839964646aa phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P67Y infores:phenopacket-store PMID:21367767 uuid:c2313287-b5d7-4595-bd17-e6348d31adc2 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:c0a6b1d3-2fcd-4bca-8024-32887db68511 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:b8698311-1516-4851-aa96-5d9165c02a2b phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:b38d3fb7-7b07-4bdc-953c-b170a2c998d1 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:51cdfebc-778b-4248-bbfa-9bd79ece2fd1 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:1eeca464-ab7a-49a1-8f51-672b26ae1132 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:e0ab3394-b886-4921-9e4d-12a2facddd79 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:6d5ae026-e6fa-4a27-bf97-9ac994c51161 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:044a35e6-145f-46e0-ae7d-216006449e86 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:a2132ebc-3415-4b55-bc60-c80ab73b34ce phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:d8ce1ca6-267a-4d32-8e9b-0abc2deed72a phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:02eceb8d-2110-4bee-9649-b88a6386fb57 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:ca1d3f8f-d5b5-4218-8ac3-7dd61b0f46dd phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:4a1ccfa2-2ec6-4f1a-93f4-297f76b093bc phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:4b10426e-4373-40d5-93b5-db83ecbcfb6e phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:21367767 uuid:f1848bbb-d982-417a-ad76-2ac59fe4a4f8 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:078dee42-ecf8-4e19-b61c-a26b7d1bc391 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:22986007 uuid:bb098384-7bfe-4f00-9989-5e8702a74f7d phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:22986007 uuid:ac96ccc5-dd93-40ee-af9e-f04b0b3273ac phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:22986007 uuid:e14a61d1-75fc-4f4a-8fca-adcd95ff90aa phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:22986007 uuid:2779f0c0-3c0f-43c1-b908-7a99ec217c0f phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:22986007 uuid:da9da4a8-1254-4f55-9f22-d77829f3d20a phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:22986007 uuid:9a9ada6c-7109-450e-9fdf-472f7f373fb0 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:22986007 uuid:000af39d-c3e4-4d4c-9fbb-6a25ef21e9f6 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:22986007 uuid:b96802f6-bd7a-464b-981d-7352404a3970 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:22986007 uuid:2c8ef65d-831e-4f45-9686-79d0c67c9e24 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22986007 uuid:2f076e41-1b1f-44b2-8b74-7f36addd18b6 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:22986007 uuid:d56a1480-bc2f-4913-a625-701fdd744805 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22986007 uuid:3a7db4ab-e4f6-43d9-9544-a3851c6b474e phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:15f04637-f917-4685-bea9-91f0cc173b2b phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:a6fe6ab1-99ff-4409-a2c9-5d13a437ee83 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:7c50a23b-63bd-476a-8691-b7c0d8e12a0b phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:66db3d2a-4ce3-42c1-bf1d-5f123d21b5f3 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22986007 uuid:ea0e1c6c-ff60-477f-8790-0d57f19a852f phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:22986007 uuid:25a88703-bb99-46e4-a478-cdb87679516f phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22986007 uuid:bb853ab8-c59f-4c25-a4e4-97aa2e63428c phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:47894b2b-362d-4cdc-b254-747e4d5733b0 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d1a663c4-1fe1-4eda-8fc9-91b1e3efcdb4 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0007859 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:36fd03e1-f0cf-4d03-a28c-96b82702e52b phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:bdc56b52-3fa5-4e61-bc53-4411d86ff8f7 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:aa763cd8-dfe6-4443-807c-a0456c06a307 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4c105d6c-f6e2-42c2-af49-a30757612050 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0006817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dc42b990-3e9a-4d2c-8b84-f065267f9f0a phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:2fddd264-743f-4d97-a319-ca8016d4a29d phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:b629dbd5-c278-47c4-bb62-65a94e9fa9c9 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:498e0e9e-fb6c-4d79-827a-b1908b81f403 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:8d652023-50cc-400b-8bb2-8b42c50564f6 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:c187eb49-3f3b-4530-991a-5bc040fc99a7 phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:933a57cb-3cb3-4cc3-9be5-38f36b9d42e5 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:e9db689a-80e4-47ff-8879-1e292a19f580 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:f03e52e5-56b8-4eda-9c0f-b9ae9549e8d6 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:6ed639e0-7cd3-4b18-b48a-6ed8ecfcc547 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:54a5e988-3c70-4e9c-84fb-4f7522dee6a1 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:26b1cc59-64c6-47e0-9d7f-13eb983b6fc6 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:62559eb2-fa5d-4237-b7b5-ef5eb1a6115f phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:ecb5a3ea-df5e-43eb-8377-85bb54c29af3 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29925855 uuid:b95f3ab8-59fb-4bf2-954b-e5d34f26e435 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:8dae529a-8f9f-410b-91b7-cdb06509745a phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:8a985280-64e0-481d-9011-6ee227d8567b phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:83296c3e-80e6-4e53-829a-8dc5e22c8fe5 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:6e2ac127-3666-4a69-b93b-c19f1d0c9f9c phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:e3ff589a-b8b3-4126-8f1f-b8e952e48416 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:0d790049-bae8-43af-b404-886a53dd6248 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:0e7fa605-e529-41e5-a916-46e8360fd336 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:b328482d-93e8-40ab-9afa-feda24057ad6 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:5c04a3a2-b553-4f07-b7df-df53b821acd2 phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_phenotype HP:0030177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29925855 uuid:f860fac2-24d1-42ef-997a-a922e00e7d6f phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:29925855 uuid:dc1acc8d-f9f4-4f2a-870a-e73f25aa54dc phenopacket.store:ITPR1.PMID_29925855_P6 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29925855 uuid:3868f73f-fc41-49f6-856f-95290b70c875 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:007d52c9-1fa0-4541-af19-e8b0b52dc1bc phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8ad646fc-bcfb-4076-bc93-f845acd806e1 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:c2c61c78-cbb1-48d2-b279-3b2576803769 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0e576697-b51d-4170-b523-98fe6e2b25ae phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:39d1a21f-7280-46b8-8b9c-2f4529ac0830 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:23d03327-3250-43cb-ab1f-c84968191b9b phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b07d6d0d-9fd9-43d4-bd65-f69b99555f57 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:7f588143-9b9a-40e0-a5e1-a0253e29f95f phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:6a61118a-4374-4361-be22-23690a95f5d8 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:6a71b115-d0d3-428d-82e5-09e86ec2150e phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:1b797719-31ee-4804-8725-c49596179940 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:4118647a-1983-4601-9481-7b4251a88eeb phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:0aec7f44-05d8-4684-b6eb-37f8a67de0a9 phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:6b09fa71-a0b0-4253-a2da-870ffbad7747 phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:595679c3-98da-481c-bf43-b158a5d20b56 phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:d8f86c9c-34a8-47eb-8f8f-3998fa09f22c phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35743164 uuid:22668a00-97e9-47d6-93e4-560a11abc2ac phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:8bbc3a07-53ae-4e2b-be52-976d61e30009 phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_phenotype HP:0100275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35743164 uuid:c017b43e-203f-4e5a-a211-3059da02efb6 phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:79d3da93-e6fa-4ab8-89e7-d5ec6730f028 phenopacket.store:ITPR1.PMID_35743164_P2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35743164 uuid:24055ade-9250-40dd-b18d-37d59f518635 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:5f3c0cd1-5792-41fd-b162-26e74ad82fd2 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:a50c93e9-1262-4acb-a037-d3daeb592d3e phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:4429b86c-251f-4ee0-a0b9-d07ea5a9c58b phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:fbb6edfd-254b-4d93-97e6-e64b37a58631 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:1b18bf4b-ae0c-4d78-82b4-af1971e70836 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:6e562016-45c6-4c85-8e89-0e2af3a01297 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:0a2ac875-7f9b-4db1-8ded-28577f3642d9 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:0cf9b28d-e274-4e99-ae4b-a502db853dcc phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:a185d716-bbc2-4b36-bf61-7f15578a0180 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:4f382306-93f0-4152-9c0b-dceda19152e0 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_phenotype HP:0040129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:a9381bd1-04a3-4303-98f3-8de642d8fc34 phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:ae362b73-f195-4785-941c-159a7dbeb68b phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:77ecd393-0742-4777-a2e8-8f506ddc6c26 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:eb57e362-c0ea-40dd-b662-bf10d5b70052 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:da03059e-8bc3-468c-9e6b-4dc18637e1ef phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:483895c4-46d2-4c8e-bb1a-ed04d2192ad7 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8c73ff77-d209-4602-89c3-9872afc678b1 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:e7ebfada-6e64-4c2c-b8b3-e519d7b95930 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:14f6e0e5-aa92-42a7-9382-7b7712008204 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:4ecaad2b-04f3-4f67-a60c-71aa8175c469 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d744ced6-9731-4f99-8968-6f4f18b36aaa phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:02f2bb50-a094-4fd3-90d3-645c5f3efafc phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:276c68f6-7970-4848-99c4-6b60824dad6f phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:d76ef65a-bfe2-40df-ba40-aaa453986c23 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:07e8d124-aa9e-41f6-8789-ffb6164f4d23 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:95339e57-fcfe-4680-becd-438b8f1e3e84 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:f34f0d38-72a2-4510-92e3-a3f6d6ad0408 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:2a8ef42b-1bea-4121-af37-b7292b9c6f57 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0031629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15623688 uuid:527d15ff-2097-438b-bba4-8f4c134329a3 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:bb0d9251-a49b-4830-b33f-840791d0c721 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:83d23234-36ed-4048-abf8-a782adcf6830 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:589b26b1-44c1-434b-8a9e-d4b82200e077 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15623688 uuid:b33b9845-fb5f-4d35-98e6-1c7c925d4fe0 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:1ed60558-f395-4d75-88a8-23e247204e0a phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15623688 uuid:862e80ea-f003-4496-8554-6bb69c6d5a52 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:f435e631-8b68-4d7b-8098-9805464bc3c9 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0009878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:ed484af6-af1f-4a3c-8c4c-6cc05f663fef phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:bc6367d6-a9e4-4ee0-9b97-199f3f1953df phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:8198a8d6-8c5c-4e5a-879b-562bc163aeaa phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:e9ec1b8a-64c6-440d-a974-14fc2ba58550 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:9f73f836-4b67-49cf-9c9f-e58ad6664388 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:714a131b-3218-453f-b8c4-b30d3f1359e3 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:4d7c12be-055c-476d-aefb-02a925371cdc phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28488678 uuid:9187a73b-6437-4843-b40d-22261833acc1 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:9c1d0ece-72d7-4e22-8e8e-9a34cad07fbe phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:a99a0a00-add5-4039-80a4-f0d4c2a10b79 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:41ffec73-55bc-4b44-a132-6b238f3787e3 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:2a51a44a-76f3-4b5b-8a64-5eb4b5a22551 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28488678 uuid:6c08e021-a70d-4fe2-94cf-1eeb1403c4eb phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:67065a75-531e-4306-94b9-e131c92dd007 phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28488678 uuid:ecd0a1bb-cb5b-4a09-9bc3-847ff721aed5 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:06341714-2b11-4f7c-8409-26c293f01ff1 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:1fc9dce5-c46e-4119-9169-f595ed7de92c phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:76986580-bee6-49a6-8728-81f1b9d01445 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:9cc91b78-aa4d-4340-93ca-93988e4fc677 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:715b146a-3596-4779-9a8f-3e196aa62e45 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:9fedf330-f8ac-4969-94b0-9d46647164a1 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:eb1ab643-32c1-4294-b0e9-5e1956a907ed phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:dca11f78-8616-4013-bc07-98b43a62a209 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:70abcba3-09f8-49eb-911b-89bda0bd8609 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:4b4409ea-323b-4e68-9b92-e1daf1f97d48 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:b8d7bee1-19fa-4959-aa2a-edd5f6dd6e56 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30249237 uuid:aa102d29-89ce-4e58-9710-6b2c3517b9c8 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30249237 uuid:f21da705-bc9f-49e7-9653-6448ff75c713 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30249237 uuid:6e25e0cf-d2c9-4bc1-8b48-c9251348871d phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30249237 uuid:f3619f90-cd8e-4351-b4d3-97dc7a180e3b phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_phenotype HP:0009917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30249237 uuid:a84e271a-724e-4f45-92d6-2808c1b91bf7 phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30249237 uuid:ea77d80b-6a8c-422d-97c1-bbed55a1c66e phenopacket.store:ITPR1.PMID_30249237_proband biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30249237 uuid:fa2d7e13-d480-4087-b646-b6fafe86f6ec phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:316c7d88-82ae-441e-81b1-edf8e3100d0e phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:e9dc78c6-ae1a-4109-a83a-4fa7ee77fcc9 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:652546df-4b1e-4e5e-bd57-ab9a7df3aaf8 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:77a05f6a-831c-47e2-9ba1-0c15ed8466a7 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:4af2592b-6c4a-4204-9402-c8b321603d68 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:01000336-69f9-46e0-8c82-2e11931c9f36 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:ece44451-03c3-4c32-8bd2-1d7ab0ec631d phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:d3a98218-2b36-4774-872b-a99409b12fa3 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:a3be933d-1712-4c59-b7e2-d8c45e909d1b phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:5d1eb492-4d39-4085-a64e-fef48866fe7a phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0003698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:1ffbca59-6cb8-4ee6-a44a-b436d6cef652 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:c14d6105-8ee2-4982-a75d-3b12e3bd361d phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:98c573de-ec7d-456f-9407-86e35ea21b39 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:a28c6251-467e-4931-9f56-8e059f3a75f1 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:f3b429e3-2c28-43a2-8345-55ef361fe9d7 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:7e3dafe2-6296-4f2c-a68a-502e0e88e41f phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:35883561-7cf4-4027-880a-25ab946a9835 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:77b92350-a316-469b-aae7-8fd736ea5ab8 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:d5a040c3-291e-4268-a8e9-a9087ba74fb1 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:ac80b219-d30d-48cc-8774-cadfd343262c phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:c5cf5ad5-32f0-4331-91ce-42e91704edf7 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:091c2fcf-9cac-46b0-8861-cd37a811ab97 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:4c3bc4b6-aaeb-49a6-980f-d7c7c7d71959 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25794864 uuid:20effcce-3559-476f-9aa3-47b0bfec2294 phenopacket.store:ITPR1.PMID_25794864_P3 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25794864 uuid:e4144916-45b3-4d39-9fa5-5596bc93012e phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:deaf5815-aea3-4ee2-a20d-e50b6eb40e84 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:350ae271-709b-45aa-9d95-2f3ebae6635b phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:44bf7a38-501b-4c54-b915-59ff0fb8f9c9 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:06798bde-cb51-4a9d-be5f-418e54476094 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:129ee212-fe1a-4362-872e-cb5b1b3f29ab phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:8d6f3556-8b6c-4e8c-9d9a-e324fa10dd38 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:0d8b992a-0f62-4340-8e2f-0b30f87014a0 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:90267946-5faf-4390-82a1-bc2b1b68fe72 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:e6c68516-6877-4020-b7b5-27083e7d82f5 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:3fde8383-9a0a-4f75-b05e-20430af43f57 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0003698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:b8372896-b796-4288-93b1-3363f3ba8ed1 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:32770312-4b6d-4a89-b9c8-506f4f25101a phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25794864 uuid:14e778c5-5227-4d85-a203-eabd5b885fd7 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:124662f5-18f9-4d54-963d-01e3bf2a9ed1 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:0c44784c-1e34-473f-b76a-2feaf0babd99 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:7f777e23-b4fc-4a74-8f97-5b6c8cf89182 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:a99f4843-f376-4835-b7fa-b8a2a6355a91 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:490906a7-1823-467d-b5b0-bbc8ef7d4484 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:6c5d5daa-7806-4004-8ba5-3827bf522e27 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:02d0f4ff-498e-4cd2-b968-ffe65c174ff6 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:1507b2cc-3533-4f2b-b3a6-f11fa327af4b phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:8fb9f73c-b295-4715-a4fb-05e7f8ec7c89 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25794864 uuid:b7f8e326-6257-4ddb-9761-39d8e8f3bed6 phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25794864 uuid:1ecfa5a7-9afc-453e-be33-cfd663dbf25b phenopacket.store:ITPR1.PMID_25794864_P2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25794864 uuid:b0243b9b-9717-4d60-af37-b62f4f7b0095 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:e6df44c7-ec35-436f-9960-07c55dded43a phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:528509dd-001b-44e1-b3a6-9a4a60d7d50c phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:0491193c-87c0-40ed-b9c3-44da69e54303 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:4f91e140-bbcd-4e45-bec3-a306f32fa8f5 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:236e4857-0285-4c46-8790-adc3fdb62f9a phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:88dccaf4-6e5f-43ed-bee6-8423b27850a9 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:d0ec4ea6-1571-4c70-914c-556b78f28aa2 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:e0023f05-7d26-4861-bbe2-8c11fcba0c31 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:e91cf7e5-5d49-4eb5-b4f1-d037aba5831a phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:4a5429f6-a7eb-4535-93c8-634a4fbb1b21 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:4395c0b5-0c23-42e5-9fe1-c90f5457795e phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:07e5ae11-8b91-45b8-bfc3-557e74397b82 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0009751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:c5b28e58-0715-4ce9-bb0b-2025e35df449 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:761881d4-23de-47ec-ac50-4f41aaa035bd phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:7b112793-5ac3-460b-bdc7-46aab55ce656 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:26981d98-f721-4494-a2e3-84a604f7ad03 phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:db0eca4a-2fc4-462a-8631-edb16192b43d phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:46a26605-aea5-43e4-beb4-e99ac668c69c phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:59fabafd-52dd-4f45-8a60-ffc4b5aaabeb phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:4877666f-5235-48bb-9b5a-ef9471f572e0 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:06557ea0-b4c1-400d-ab2e-a59583bfa781 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:952376c4-1469-4670-894f-d10f0bf9f79f phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:380fde4f-fe0e-4137-a569-66d097c3ea0e phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:b01b215a-53f1-4a3c-b051-c21fa2f53a83 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:094306c5-11c9-468b-9318-cd5436cd5f62 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:37154409 uuid:794ba666-b444-4694-84e9-25acf1e08a31 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:3d22957b-f9b2-4df2-a8ab-3728b3a550fd phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:e30a0d94-c47e-4188-8b3e-f16ef1439962 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:081a4816-7146-4eb4-9c23-ae819f96d4f3 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:f1786f7c-a505-40aa-a562-ff0bceac2941 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:76a17cf3-5b19-4fd1-8c64-adc178585ce8 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:68eaba59-15e8-46f4-85b1-fbfa9bfdfc9c phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:1675bf65-ed3f-40f0-8d3b-99c4e8283653 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:fc77a0d8-e0c6-44e2-a265-c6e22c0fd6b3 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:518d3c1b-cc0e-4c58-afd4-fb293c8d29b2 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:65df9888-9010-4f68-904a-4b213c4bfc57 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:f29b1362-2f5b-40ba-84be-d4633519a9e2 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:da7c52e7-ef9a-4fad-910e-da9955e92ecb phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:210338ed-5865-4586-a6ff-e24500e015f5 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:37154409 uuid:46c76e08-a6eb-45f0-a8be-db00ddf9077f phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37154409 uuid:35fc464b-884f-434c-8513-5c7c85d8322e phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:21367767 uuid:231a78c1-dabe-4e76-98e3-8f3a613c82d5 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:5462fe53-9049-4002-9679-e82f65e4cada phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:2430cb49-c30d-4d1d-a256-4638b7373e7d phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:20051d54-7315-4099-acff-e4867118768a phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:00e554ba-2813-496b-9c54-c6c2dea457dc phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:7ccc95bc-41d0-4f4a-9865-3ce85a46e8f9 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:a616b804-5fc1-4853-8dd7-6f7e59411405 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:523e9382-3b49-49d5-babc-a9c9fcdbad0c phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:61b4eb99-e574-4930-9c71-574359c8dd0c phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:6efc007b-3799-48e5-82e9-b77477ba43de phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:af46a538-6145-4ab6-9f7e-0744157e5d74 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:03251cb3-b0dc-4208-bf31-c61a80af4371 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:03a54070-a26f-4f2b-9a9c-0908c4dbca17 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:a493805b-ff74-4fc1-99c8-75402a04e94f phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:e8b31d6b-8206-4694-a4f4-fa912cea8a5c phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:be8b9d6c-ebe8-41fd-9d79-040d8818bb50 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:21367767 uuid:b1eb0e06-bc83-458d-9db8-655e4f30f1c7 phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:92120dac-17c6-4b46-8577-2daede59c8fb phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:55ceeedc-f9df-428d-8eac-6b99ed53523b phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:28640061-4df6-4266-aea2-4c9ddbf98c82 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:f7ce46f3-eb4b-4178-80c4-0afe7ffc522c phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:5891a62a-8053-4b9b-bd67-712b4fdc63c6 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0f4aee65-0757-4f53-82a1-82076e5b6a78 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:8d928c68-bef7-463d-b8da-a81fd086b625 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:95393942-04be-4db2-ae96-0266eeebc652 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d450ee27-88f2-41f9-a083-018b9f6ef45a phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:26d2e2fb-0881-4431-a2b3-2c090765cd2b phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:b2f0e8d2-7c11-41e2-b281-0c86b037d209 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a135d94c-f50e-41e1-8dbb-a84857f6a98a phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:ad8b32c7-0863-4397-b486-e42d854f919d phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:e34169a3-6126-4b5e-80f8-9372d049e05f phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a8adaab9-05dc-483b-812e-60aebf679472 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:a4bd98cb-9d8e-4bda-960c-a54feba3962c phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:503fc1f2-6e5f-4961-b247-124051ab7b6f phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:ca62c17a-5aec-4ed7-99db-80d0f5e33885 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:68b78e45-c481-4485-a174-a1b773df5d10 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:80a90e2a-89af-4a1c-bfa3-8255edc8111d phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:0dfa9f8f-518f-4b9e-af88-5b7fb9dcc8f8 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:ee8ce230-b06c-4738-863c-835deb874993 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:d76de646-0584-429a-9a40-aa48fb3b1b33 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:80bdc44e-bcfa-4423-96ae-a8cfdde711b0 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:496495a6-b472-47e9-9876-c9509282d675 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37964426 uuid:dfb1c2e6-fa91-43db-b498-5e55d620c799 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:0a18f7f5-8e7b-48b6-9e79-803d8c180eb4 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:d80672f6-fffc-46ef-ac82-44c0eae2105c phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37964426 uuid:3a7f7709-0c37-40cf-b1fe-e99e913c6d9b phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_disease OMIM:117360 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:d7a1944b-da43-4774-b8bf-396f6725e219 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37964426 uuid:a506f16c-9043-4a69-858c-8f5e44da70f0 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:21367767 uuid:9467d1c6-6a26-44e2-92ed-8bbb80c6e2e9 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:a6dc9c81-a511-4c67-8f3f-0b28be74ee2d phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:66c77f28-d1ee-435c-9cde-593ce73f19b3 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:635c25d9-a03b-444d-bb3e-420b6015a40d phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:2efddb33-c71b-47ca-ba94-dd03cc084b6d phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:f58d7641-be1c-4c7e-81da-c16ab893d784 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0007338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:ca12fe6b-5b75-4146-b69c-9d44de2d0922 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:e9d1281a-4b78-4619-85ae-5d751ece8def phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:1093bf07-3d8f-4515-94fc-a46f61e30b07 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:7f3f3264-3d8f-4e08-aafc-135891af245e phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21367767 uuid:c5bfe4d8-27d7-4042-84b3-f282937145dd phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:37812e14-e742-4b7e-a16b-38c0072d1de9 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:1c2ab1c3-ad60-4be0-88b4-8134217c7cb6 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:94f948f8-32f5-4597-a01f-51fce9549892 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:76dc9eb2-6fcd-48ba-8bfc-798f4f113e28 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21367767 uuid:e589a615-55d3-4008-a3cb-844c1cc48563 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:21367767 uuid:452fc39f-2be2-4b5b-b610-5eaa5575d3e6 phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21367767 uuid:2b535a4f-9d29-476b-883a-5e23b8b8469b phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:31340402 uuid:9a2531d8-13f9-4431-821e-2c51879a1b60 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:149cfbe0-61fe-4333-b4ac-01b3b05a4969 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:610fd8b6-aef3-4bda-ae34-072acdd5d5f9 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:11251a1d-6ffe-46e1-8798-834d4e428751 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:d10004a4-08c4-4431-903e-349d31a099d7 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:f23b4c85-e324-4a53-9b68-6c90c55f510e phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:ecda1ca2-e1ac-4ee1-83e1-d0c8eee6bd81 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:db638361-80ce-4df7-9a83-2ab9578f63f8 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31340402 uuid:f08502ab-e3f3-40e1-87ad-06165e85c233 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:945d4e33-1a1d-4ea5-844c-65d007940bb7 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:4ea23c8e-236b-41c8-b85f-7c1eadc92b67 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:a991157b-d5b8-4303-8f1d-e2d985fbcd95 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:a8351b3a-d020-43a9-a89f-36ef8798d96d phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:841b5ee4-9adc-4535-94a3-0fccb50dab59 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:d0471710-971d-42b3-9ef2-a6cde9940907 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:cecc32b2-8301-4c36-82eb-3a54420de2c5 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:193d09f2-0951-404d-94df-74256521f83a phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31340402 uuid:2c75c5b9-269c-4fa3-a154-09df207af8c1 phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31340402 uuid:3c2775d6-146b-40e2-bd78-4dd484c3ac0c phenopacket.store:ITPR1.PMID_31340402_patient biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31340402 uuid:0a8af29e-6b6c-4108-92d2-ee5783af2ac7 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28698159 uuid:00e109b9-b27a-44e3-8f11-d4914a0358af phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0033257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:cdb13d14-b23c-42f2-8c06-9f2d4c4ae8dc phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:bfb79e4b-4196-4af5-b62f-976890ce9f6a phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:566e4410-077e-464b-a1cf-e9f6478e16c7 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:a7a5b5bf-a034-4e5b-b09c-ab89f9be7114 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:b6de990d-c615-4371-91b0-2c75cb08648b phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:5a37d5af-f2a2-4b9c-8e5a-821787dd4d81 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:3291e3cf-af64-4088-b313-a7007477759f phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:76c08d6d-f8d0-4955-97c2-c0c869c9060a phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:9026a762-4cf8-44ae-9206-f04a8d5df35c phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:796fef0a-ca4f-45e2-b95e-6a797cd34180 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:2dc28eda-be94-4438-bfa9-46ba57af6533 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:51c8fd39-a4ae-4fb5-b6aa-e31712ced910 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0007928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:c56cc77c-d57c-472a-9388-e7541f38efc4 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28698159 uuid:d0d6ddfa-0fb5-4827-a00e-81e094faed46 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:493a54c4-129c-4b24-b5da-6d6c8e76ffbe phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:8ea4c069-9c0c-4e80-a7c6-ca3ff48ccbbf phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:d3f002a0-3762-4652-bc0f-e4a52cc67726 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:8befbb15-d44e-488e-a159-95d03ea8c67d phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:da7c9594-05e4-4df4-979e-22d196144418 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28698159 uuid:13cbc01f-1984-476b-b6d8-bbda743065f3 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28698159 uuid:440740f6-c587-492d-a8c3-fbec35597f41 phenopacket.store:ITPR1.PMID_28698159_P1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28698159 uuid:d3a30159-1a7c-4cd2-9a94-b5d6a63c92af phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:7636f887-a8c8-4bcf-9f90-e7b83594a4fc phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:cc33f252-d5c5-4ebd-9987-8d64109f6c25 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:e0ab7faa-984f-4f42-a822-90368868f2aa phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:dae70f2f-31d7-4186-87e7-6852e852192f phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:40290772-355a-4887-8904-d48309dca8a5 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:029284b3-2b67-4fd1-9c29-acf6078da3f2 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:28638360-31f4-4e0d-89f1-3c1b42ff1e0a phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:80dc19f0-5210-47d9-81f2-d20092da719d phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:5180b9e9-d51b-437c-9535-21bda6b632cb phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:e02a36b6-3d34-40a5-9c4f-d12c4ba01aad phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0025335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:06a15170-1b14-4753-bde5-35e908091158 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:ba56aa53-0cd8-4131-93f2-9460c8da4933 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:29409a1f-d215-4390-a42c-32d749a8e4eb phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:c7a83476-94c8-4469-8307-133b8a813567 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:bfd989d5-98a5-4a5c-a034-8c4e0a202b7f phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:009ad047-e512-4681-ade4-9e269a50af78 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:e6f327a6-dbfb-4954-865a-02b91fb61c32 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:fea82a94-6dbe-47ab-894f-bf2d6ec336f6 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:878d56ea-8746-48e1-a790-ec378d3fa8a8 phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:0c25db57-ad65-471b-a39a-ddaebf05392c phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:758d3329-bcd5-4b50-a330-03ea38fe8f2f phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:bb71c0a4-f365-4235-8cb6-0ef87563919e phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:391e1e33-c47f-45b7-9ae9-248e11038a47 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:60dcea6f-eb8d-4b83-add2-7210f4e5dc71 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:776dc383-493b-499b-90be-9d4ef31f4ae8 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:3a32d6cd-72aa-4647-93c5-272e4b221058 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:31ec374c-569c-4429-b40d-0eda35c3c0d7 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:1574671f-502f-43a4-9504-df1d271d1f9a phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37154409 uuid:f9957435-9259-44c6-8279-e0277789f5bb phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:393a2498-5914-40a1-8e45-3612170d091f phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:7ab4099a-607b-4e30-90f7-2716d3aa3620 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:fc9eba64-1bab-4330-b433-9d0b346b7295 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:f5e72dc4-e67a-4700-8aa3-0b8bcec42082 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:15135d54-cfc1-43fe-be78-39ecdfc55b18 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:ca9dfea8-fdc4-4615-a107-d7a140fffc20 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37154409 uuid:15c81130-c046-4924-99f1-182772ebd918 phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_disease OMIM:606658 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:37154409 uuid:980a127f-88d8-4f25-9025-c4d99b3d1fdd phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37154409 uuid:d028ba6d-0e0c-4104-ac7a-f901f1ac61d1 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0000526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:7a0b7125-8fe0-4b45-b174-d30cd660efc1 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:8ad60b1b-c216-456b-ba5f-c78ff4eccf12 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:0540a9ce-7747-4b9b-af0a-9303573c2ff8 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:bcc053f7-fe79-4404-9c4e-f9cadc30d62b phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:d6ff8d19-82fc-4105-ba11-02665d3813c5 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:b83ef732-051f-4d99-ac8c-73ea0fde8d03 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:26afdf7f-2b4e-4380-be10-8c814d6af3cc phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:b359133f-b004-49c5-8e4a-f2bacb295142 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:eef720a7-a909-483c-abb9-37482c8ba04f phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0025335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:4499a82d-12be-4a23-b4dc-05bd1ad4c672 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0007676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:887e58c1-0bd7-4c6f-aabf-6994f0affd09 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27108797 uuid:11af0fa6-3efe-40b5-9c66-6ed60f920d15 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:9b49cb7e-83ea-4058-a982-cb4989b8311b phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:3e8e8bc3-4e4f-47c6-988e-af5a5afd3168 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:f87d7417-90ae-46fc-9b05-a6d6f7ae835a phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:765cf32e-cbdd-4ea5-a389-8cf235c4fbb7 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:2931213e-6da2-4ac2-8cab-21b11175887c phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:e44e3ade-d4fa-44b9-8ade-0e925dad9163 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:905f88a3-ea28-4d5e-8873-5adcbc857f53 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27108797 uuid:08c903f7-8c71-4bfc-9d0c-38aec391b3d5 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_disease OMIM:206700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:33d1959a-5c33-44cc-a144-d2b4bac70fc9 phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:has_gene HGNC:6180 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27108797 uuid:4a0ab3f6-e9fc-423a-b67b-763c3cd66d55 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:30046498 uuid:6c068dba-dc37-429d-acb5-d3264ec0aea7 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0011985 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:30046498 uuid:df421991-960f-4e1f-9455-d360fc688e0f phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:c7c2b8b5-6836-43e0-8759-849927e6f374 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:7e0c5488-e081-4938-8ff7-04ca2dcc5660 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:795712bc-c029-40e7-a985-0acefa1d88d1 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:a56e5f65-4ab1-4376-aecd-fb057e7b8506 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:f4df1f0c-f31a-4c61-8256-3f4580ed2989 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0012704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:36356785-c16a-4c18-ba60-00c866971622 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0002089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:e6ff4117-fa73-45e0-bb5f-bdb6c6f50a3d phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0004617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:beefdddb-d0ed-45e8-b83b-004166247878 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:bc399230-c408-4829-9247-bd6a380b48a7 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30046498 uuid:b9d4180c-1f41-4ec2-9478-4d547e670e0e phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:30046498 uuid:2f0fc9fc-7e6e-4067-93f7-02124c4561e3 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0000991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y2M infores:phenopacket-store PMID:30046498 uuid:c49f4191-1eb9-4b54-8b9b-891eb1ca1f3d phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30046498 uuid:e202dc3d-b29a-4bf8-8122-718307bfa720 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30046498 uuid:ad609558-3f64-45bd-b80c-9759dc940c43 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30046498 uuid:a2a0c766-eb65-473f-a784-29e5ad39cb84 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30046498 uuid:141cafba-e40d-433c-ab5b-09858dc8bf0d phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30046498 uuid:5798f3d5-2e2d-4044-8aa2-b62a7e8e2a0a phenopacket.store:JAG1.PMID_30046498_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30046498 uuid:08c8ba6d-80a8-4a89-8d20-e204a36a48ff phenopacket.store:JAG1.PMID_30046498_proband biolink:has_disease OMIM:118450 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:30046498 uuid:c575f107-5336-496a-b8d6-52b98a8f2318 phenopacket.store:JAG1.PMID_30046498_proband biolink:has_gene HGNC:6188 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30046498 uuid:61da1b83-4d1f-4ddb-8215-1f06f111702c phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:36307226 uuid:94cbb743-79ce-4bf3-9116-6a1299d52735 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:2f005e25-2508-4d83-873b-9fcd7124763f phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:6242174c-77a6-435f-a315-6aa4607fab50 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:999e6319-9d45-476b-b2df-69a24f801da1 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:e33b1c25-3d4e-474b-9365-1857a6be90b3 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:6886507a-4aa4-44c6-9e45-0a79b6bca761 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d1b7da61-d7bd-4c21-ab08-f1521ed0ab63 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:06252743-d366-425f-a259-6a8b9ce23f7c phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:44a70915-8e01-4684-a74a-f9eefc5a691b phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d506a033-a364-4c62-8a6a-a031fac2f967 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:99cd2ac4-2993-4ae0-bef1-276b3ffc50d5 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:716f38e6-72f9-4bd1-9fd1-887fd510ef08 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4dcb7c81-74dd-4fc9-bf62-3c5563b648b5 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:89a226ea-c6c1-46fe-bcdb-bd8bb3644b4f phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:630837fc-de3a-4af0-8e19-fa10b27a7275 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:59f29333-c80a-4c4e-8d8f-2b3380334800 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4e7e089c-265e-46e7-8d01-d00e0733fb67 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f4ee5eb4-7968-4e60-a9d9-370d088dc39e phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:36307226 uuid:beebc79a-bad5-4cc3-963b-2c983ad5fef7 phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:4fd9bbf4-b5f3-486c-95c3-7329cd8aa3e7 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:68203a8c-9937-4b62-a606-3c28353992fd phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:e535813e-9b7b-4bc2-8601-df6ce52f5c74 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:aa167372-a724-498f-8ef3-07d7b3a7e27e phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:b392bec0-9f67-433e-b39d-e2c891840726 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:b04b56aa-f3cd-4981-9223-48844d14d7b8 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:ab740333-9c0c-47d2-b623-a22dc6108e70 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:648d99f6-f043-4b88-a1d2-265d61d7cfc4 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:6f298f45-8a11-445d-9ea4-1096d96c4e46 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:7f4d746d-b146-4be3-88c1-23cec17e011d phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:746dba47-b601-4113-8de2-24efa0a51088 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:ce331340-7c2b-482d-a22d-ebd8424ffcbc phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:d4be4a0a-a8a5-419a-946b-ffa25ee10206 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:38708366 uuid:53e2b66a-2e21-420b-9cf9-350f847068d1 phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38708366 uuid:eb59f34d-95d8-429f-bb2c-d4ab3811414f phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:33b206f2-acc7-4265-bb2d-11604938948b phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:d8cf5125-cd6e-4e93-a441-2f9578502612 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:dbf0c3f6-6861-4c55-9f0c-e557c405c04c phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7b7fd5a4-d913-4851-88e1-170178272288 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:5ff5feff-741a-4fe2-bb4a-0fff3dd5fadf phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7925e8f3-8b07-45fb-a59a-8da02f2773c8 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:39ad7a83-678e-4a73-9f39-2fdfdc707da8 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f653fd75-1adf-4104-8099-6598b6dd7abe phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c10d7b6f-08b2-4076-a23f-5d95a2535958 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:2b157178-0bbc-443b-81e2-6f172d2485a1 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:8f084686-d49c-466f-9127-f6709436c28e phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d253bc14-0d57-4fe1-bae8-a2a4b4b10dce phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3a89b548-d83c-46c2-a3a4-5e456452087e phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:52792737-9676-4a34-b9a5-29e0b37f95e1 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:e1843054-95fd-44d3-ae78-2e0b24d532ef phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:32e1d84b-66e8-415d-bd54-10e7ec5bdfa9 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c7921636-bab4-460d-9c32-e77b02620b4f phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36307226 uuid:a7c62cbe-502f-4a83-aee1-6d0f759cabe1 phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:7afa4f68-e8b7-431e-aaf4-a78a1a5d7e0a phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:aa9d128b-2af9-4268-a0cf-f226457688a0 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:70f7f53d-380a-484d-93f8-54cf979673e9 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:945cc357-8b7f-4f6f-a767-c779565eaf48 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:ad28287a-1f23-4efc-ac16-3ddb36a30200 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:627c2441-5544-4ad4-95ca-9b28aad8ca4c phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:9a2ca1a1-ae5a-4d0c-8a72-0f790c261eb1 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:cd6ce9a1-1c63-4fce-aaf9-981603095c11 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:9170f1c8-3dbf-4c47-8876-381990ef70bc phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:a6df640d-486d-45fe-89fd-6679aac74c81 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:27d49542-bd48-4a34-a89e-be101a2558b3 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:bb83d775-aac8-4d42-96ce-3992e716b92f phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:77a3f491-084d-4ce9-963d-1e1de3f4bef7 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:32ef9c92-ce59-47f5-9bf8-baebe244f9de phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:786f937f-db15-4fe1-89e6-2f9d58c7d503 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:719a5950-abc8-4c8f-b09c-33078f7a440d phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:8386bfc3-2ad3-4cab-a5bc-3a2c91657e26 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7585adb2-ffbc-45f5-af4a-7d1cc82f0b88 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0dd275fb-4ef6-4981-9863-a1ce4a2b7d58 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:2b129707-3669-418a-805e-89cda71578b8 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0749e5eb-7018-4bb6-a695-8de4c26b2c2f phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:36307226 uuid:a89c314f-9116-46e1-847f-fb1a1dff79f3 phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:6b1b7474-d454-4aac-80e6-714040ccc4b5 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23647072 uuid:b5b07fea-d1d5-4d8d-9c83-83d9439ceafa phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:23647072 uuid:dc4c926e-d32a-4eec-ad4f-6edd4bee93f2 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:23647072 uuid:c937a8e3-e6e8-411a-9811-9faed75469ae phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23647072 uuid:5dd744cb-e8ac-4b4d-9c59-78a10eaabce9 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23647072 uuid:a8572da2-9b7e-46ee-ae5d-3f8ee9c6e6b6 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23647072 uuid:192a7881-59d8-4226-8f0b-d7da3162d78d phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23647072 uuid:fbe93ca4-7b55-467e-91f2-ccb2776d99fc phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23647072 uuid:a40e2821-de93-4127-b1f8-5064d278c091 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23647072 uuid:7f539b53-c018-4317-9346-ece7e52025e0 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23647072 uuid:65aadfb4-af8d-4ed8-89dd-768b46a3b333 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23647072 uuid:4b90b6a7-503a-4551-94a1-1dbe7d60fcd4 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23647072 uuid:f7b8b086-4971-4fe4-bf42-ff998841c8ad phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23647072 uuid:e4230728-c25e-43f2-9e94-2841689111db phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23647072 uuid:6414d28c-1c00-4fd5-8904-eb47ba8e9f17 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23647072 uuid:a3e14c13-f5e6-4f1c-b8ce-25fc32c2661c phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:23647072 uuid:e767b4da-c748-46a5-92b6-153ad65580d7 phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23647072 uuid:f448491a-686f-499e-b3d4-077e5f111a8f phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36307226 uuid:ceb59f88-60e4-458c-966a-9972bc646211 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:7078444c-e9aa-468e-9cf6-a5f113667016 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:20d10069-9fef-415e-be89-46ba84730d4e phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:097496ab-11d2-4124-aeb5-8bd5327ddc0e phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:8b2c26d5-5602-4b88-9737-9c3ba35825c2 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:cbd0e13a-fda2-4db0-b444-d6cb080d3da3 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:67f65470-d2e2-43a7-a5a6-0bbecdc16299 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:385b2251-bd3d-4271-a69c-8de7225c3f9e phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b0776678-62c4-4797-8b6e-73fa0c2ca24c phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:1a5f72c1-8c28-40af-89d6-37e3408ca646 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ffdf44ee-c90f-4afe-901b-5cb6f35f0cc6 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b636e9d9-cf4e-40bf-9bd2-3b3a38b9730b phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:67585895-8f2a-49cd-9ff3-d1ce7649c35a phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:70a2e78f-16db-4a3d-aff6-4729ec45a084 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:cca1313d-44e0-4a4b-84a3-e42e0793d0a2 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:da138072-1e8a-48eb-b584-e96d8cc09263 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c2fcc890-83b0-4f8c-9545-be5b41ea8e78 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:acb2d2c4-b5e4-450e-a76b-efce261c5131 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:da4897ab-023e-4082-8ae5-686d68dc99b5 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36307226 uuid:29637bea-cffc-46c6-ac8a-24bb69b5bb31 phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:8aa5d430-c731-4320-b905-77d378cbf5eb phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:6637fbc6-6a7f-467b-80ec-5bc2a2353140 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:138f72b7-f13f-43b9-9b3c-32261e4f1b3f phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:c9a89c51-5135-49ba-b3c2-4417988c2da8 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:029d4edc-95e4-4ae5-b096-ca26a005a4a6 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:de6829a7-54a3-4368-af0c-75410c6d00fe phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:98c70815-20eb-4602-acba-58bdd1cffa41 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3f902c69-80f7-4303-9757-68614c3f2b84 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d5203642-6f67-493e-9e5c-e2ae19d3d937 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:84274571-1326-447a-bfda-66375b83490b phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9c892422-1166-415c-a0d2-2237a78b34b3 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:1a43caf7-6422-422d-b3b1-bca7e417be7c phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:6b01cd18-70ee-4cd2-b1e0-bba19b56e6f7 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:83f58d71-98cc-4366-85e5-6a21d7e42a01 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d406f857-b619-4efa-b8af-bb2025666867 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f2ded24a-af86-4939-964d-11ca79358e0e phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:5f2005ef-6478-4137-bc22-04d0ff174e74 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:12afe5e8-c142-4e80-a4a2-0e33cfeac895 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4dc71877-58c2-44d1-adfd-bdc7a5e23b3c phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f5a8f995-4db4-4cda-b915-ba83d0e5b0f5 phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:36307226 uuid:dd8c9012-a273-4908-aa9a-624b2fc9795e phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:18df9a11-72f8-455c-ac65-63138a0f2355 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:79554679-89d1-4b43-a528-829bc85f6c80 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:65071d57-6456-4fd0-8686-e27a30f4104d phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:8d9f0313-ce7c-4570-827e-06349ba0cbce phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:12511361-37b4-49d5-a36d-0e094d2a9320 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:53d1ce91-5207-4ebd-a005-18b589cb32c5 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:90d998fc-69fe-4ab3-8951-25572bf18b58 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:59c1375c-09a7-4c88-82a3-fdc52006be3f phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:750059d0-1bab-43dd-9e63-be70c96dec5a phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f4e712e0-6ae5-4615-a6da-45bee92839e4 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:dfdad686-4ce3-4d46-819a-cf861e83e9c5 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:e891ef6e-7149-445f-94d5-df75f965fc53 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:054d3293-996d-4c45-9bef-953ae1cb717d phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:15af8808-c7c3-4375-8780-4ecdff2a6e13 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:8f286a9d-f4cc-43c7-9259-940e974e2e7e phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:614d8730-6f7b-408f-8542-500d726d784d phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:1a37b1b7-ad2a-4e5b-8280-3efd0fc8b9c9 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ef624dd5-6a1e-4eed-97c2-bf221aa69baa phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:1f3c6623-e858-4615-932f-5699bafa5157 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:33924d8e-5898-4a3f-8615-46547b116f76 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:be123221-ef7e-4178-b702-ca9a661c8b16 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P61Y infores:phenopacket-store PMID:36307226 uuid:dbc16507-93ff-4443-8035-609771b44870 phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:1d58f51f-495a-45ce-9443-1e425f3463de phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32725632 uuid:ab52dc7d-37a6-471f-acd3-885c246facf6 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32725632 uuid:fe623440-7d77-4595-912a-dfc6ee221e8e phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32725632 uuid:78f50117-a88a-4ec4-8cba-80caf80f694f phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32725632 uuid:d67a3c1d-ede9-4b6e-9958-7a654a202a5e phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32725632 uuid:663caab9-1448-42eb-9705-1cb0177f9d11 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:438ae566-9922-4536-91b1-a678eb88632c phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:f6bd452f-7af3-4935-802d-d6cb555daec0 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:5fb5c175-eb7c-4c3b-a86b-ec2471056628 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:f1379637-dbb6-424f-aed5-625273b700ff phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:516ca1fb-b568-4cdd-9727-370ae63d10e2 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:2f28255e-1758-41c6-8379-b45ea8c5dcb4 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:63f821ee-f6e2-4940-aa75-4763eb6163ab phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32725632 uuid:24074699-4d24-4b95-b7fd-8fa3e2e10ed7 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32725632 uuid:9d1f6b6f-e101-4cf2-bbdc-a93185d00205 phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32725632 uuid:b8f475b4-9b3b-44e0-b46c-97ad643ece9c phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:36307226 uuid:50c5c6aa-0a38-462d-8941-74cb06ac3ec3 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:d7698fe0-c234-4184-9163-e0d939a06dbf phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:d5aa69cb-8605-436f-9534-27c565f85f77 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:7b02a28b-2002-4cd0-9133-c2481a876be8 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:e4ba3d97-9a2c-49bf-a2db-92f24e365830 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:bf8b2d4a-b022-4984-89c6-55c5270a73a3 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:9a45e2c2-f9b3-44c2-96ef-7aaabf64b0da phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:aa89b590-8597-4143-a181-191f5a81ebe6 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:fa49aebe-7a0f-4cff-a031-0fe1ad760b69 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b0bff437-97bb-4506-a006-51a9c3747817 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9a6c262b-283b-4649-8cb9-0ee9d8a5a058 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:38923a07-1186-451c-bae9-3ac352d457ba phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3da352f4-ebe4-4a36-9e2c-430600dbe2bd phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ef1896e6-962c-401a-aeee-4c747e5ca307 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:97a83c69-dc5a-457e-aa4b-d98fc0c3cc89 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:57c886f9-1125-48b8-9c69-5bde86b46a5f phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d5822b51-c8a0-4a1b-a1a6-614e8a9edb61 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:54a0d7f7-7607-4929-a73a-f55cc34fcdfa phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:dc2cf6ee-cfa1-48af-9a4e-1d7b072a499b phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:743f1ed8-46b5-4cf5-ace8-b8d89fbe2551 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:10ae3dbe-0896-44a6-93e5-b8cba9f310bb phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36307226 uuid:642229e5-f7af-4dec-bdc3-549a0ed426d0 phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:be0e7c7e-538e-4dff-8803-667ec691ded5 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:589aa4c2-9a09-47e3-a8f0-5d69d21f8c4a phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:c39c7896-04d1-4030-b548-677e6d6b09b9 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:bc90f6e8-e346-4c8c-bad8-7b531ebef0af phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:6bb70a1d-6d51-4fac-a9e3-9946aa5a3547 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:ea699369-0ec8-48e7-95aa-dacc8a9cecb8 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:15ea3062-1fac-41c4-8b19-91514d50847a phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:ec1ce84b-d7cd-49ab-8ecd-402d092d4a07 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:8d1ee67c-a968-42fd-ad45-2d22fe04be0f phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:1059e0fb-1420-4ed3-a5c8-c063ddccc3f7 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:d796a060-78f5-4903-91a0-e7b4743dac3f phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:4ea2d99e-84c4-41a1-ad4f-2a73e9cf1fdd phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:ddf92d4f-865a-4e85-a5f8-c1bdeb8f94f9 phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:59b59e93-2c72-4d2c-b3bd-6b9f3da4e66b phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P7M20D infores:phenopacket-store PMID:38708366 uuid:d7817183-c4c4-4fe8-a3ba-deb244be6faa phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38708366 uuid:c90da8c9-f43f-4116-97fc-192277692404 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:36307226 uuid:f9c7a049-76ca-4502-9afc-4bb8b23b0344 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:a5dd0b3f-7c4e-4607-99fc-14f8e11657c3 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:68405854-b83e-4ab3-8421-5dbd182ddf97 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:973acb0b-6af8-4ffa-a38c-de1acdc29303 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:1a3e3030-45a9-43db-b0e8-e5d9555597a8 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:c354807d-4638-4e48-9ae2-f064cab125ee phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:ea083713-0722-4969-9189-2f8816f9e8df phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:6230bf17-f3a5-48e0-a3b6-b4005f92d7c7 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3855f5f1-d750-440b-84c0-20dd74cc466b phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d2c73ad3-a660-4ef5-baf2-b9bd36f9c228 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:aaa4628b-234c-4b28-8981-4958c9064d8a phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d86e1721-9bd9-422a-a2c5-c8315ba6aee5 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c3a29d89-aa6c-461d-91cb-8f17a2a160aa phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:67f6ae92-95a4-4875-9849-3585affc3301 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:2de42637-5a96-4143-bc8d-359a8f4fb019 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0dc4334b-9de4-4281-b535-f42407f09eba phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:baeb16ee-346a-4569-af18-ba3ef38d5cec phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4c6f2838-1136-4e79-a2e3-64f99864c8a3 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3809341a-25c3-4114-ae35-2b62363bb129 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ea689c1e-fded-4983-b3a1-5efc31840d7b phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d454404a-c9b0-4735-b672-9b8f8a7715e0 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36307226 uuid:5eade21a-11c5-4878-a7b4-1a7f657a41a9 phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:3e81498c-343b-4d76-9f5d-2e8b3938c0fc phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36307226 uuid:5508a64a-f98b-49e3-84a5-16d27a3933d3 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:720b4951-c027-4170-81ba-003d7559b5aa phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:83efc8dc-8be3-43d7-b8a4-91efd1840ab6 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:30670d90-86d9-4b34-9f78-afeefee29a91 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:7fc6e4d5-636d-43a2-8c8b-98ff3fcefce6 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:816ff368-f6a8-412e-98b1-9bf95b2814da phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:907b0c5b-b460-4ec2-b42b-183280f15740 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:bd101dd7-b062-454d-add5-9869b822ae0d phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:dc8acbce-2ea5-4c58-9bdf-c1ed9d992c9f phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:27a0d278-a92f-4e01-b319-93db8cf728f9 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:06458540-ce8b-4fa0-b292-a11bd1f846e2 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7cde1888-4ebf-474c-b75e-30be3ddafdfa phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:59b8454e-9408-45a5-883d-6ea036cf68e7 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:a9c993fe-e2ef-4df1-9618-44799a4fc2c0 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:fd7f3238-973f-4472-a1ee-4bf121053a49 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:41095872-daf7-4930-b6b9-5d1f9bf22cdd phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36307226 uuid:5ef3eb96-ba2a-4e1e-b8de-c6230ad28b26 phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:e5b2ffe4-bc20-42ca-b30b-0dcf73e78791 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:35874597 uuid:6091959e-408b-4105-9b5b-5248b7c310e2 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:aa67e54c-8dfb-4fdc-9be4-4521e2c940e7 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:761e38f1-8bd2-457a-a2bb-8ea0c7853429 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:2156a877-10ba-43c7-943f-ce0a9fcff3e7 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:dca2a8ee-992c-45e8-a850-87a529f54ed5 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:525e8c8a-fff9-4648-91a8-18d8204f5d87 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:71ed8cd2-3be9-4974-8c81-ee2836703730 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:2155941b-2482-4c30-9b85-3743352d3c75 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:3564d499-e3ad-4754-ad12-6cc375b3ae11 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:9a08b041-df32-4879-b9fb-def5a0560b3f phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:be9de2b8-89fb-498a-9e49-543ac8838f0f phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:dabfd0c6-a78e-4677-bbce-1d54a060d395 phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:75103cf2-0e54-4a11-8cfb-1523bd60abac phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:35874597 uuid:488f9b36-f321-4d54-9ff8-bf7ef90d443b phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35874597 uuid:7be3a1b5-2678-4eef-8b0b-50c9a8815461 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:b552685d-43bd-4cb7-bbf4-fdc2baa06a09 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:473c2880-10b5-4db7-9304-6a3571e04288 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:83e81f75-0437-445d-b95a-78a0a958b8f8 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:69cd10bf-a3ad-450d-86fc-8d7e957c0ba9 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:86d87ce2-976d-42f2-b676-2899bfbb4c55 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:1113886f-9cb7-4875-8e5a-977090a00ca6 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:521d3b02-755e-4a3a-823c-945ca6da90ad phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:3158e0f0-1381-4f5f-83fb-f961ac6057fb phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:d53a0049-7afd-4785-ae54-8ed591287ea9 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:1cd8498f-a95e-4a23-b4dc-ca950f15cb7f phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:0fd5566a-c0b7-4522-af29-45d2141e1263 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:6a97910f-01b4-4c15-b927-87836c00c360 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:77959dcd-72c0-4a4e-8441-9d07235c7888 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:38708366 uuid:babc42ec-d280-4459-82c2-4212533581a1 phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38708366 uuid:36cfb132-8af7-4965-9ce3-717aece4ff07 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:bbbe9bad-7282-43d3-b610-42b189ac2497 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:585cd179-f8ab-40d8-8754-f600f8d7569f phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:ae910b75-6df8-4292-b557-e1602d682bfc phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:70062d55-6da6-4b00-845f-31b8b566ddc0 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:3bf3ec79-d869-462d-a176-16620ac13ac7 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:aa9ef89d-45ad-4f76-bca1-d4ab0c8378ec phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:a9dd8c41-b92f-4c95-8b1f-017e51c5d53f phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:1278b80b-10f5-44b6-934a-1a9448b6ede8 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:55f19d52-f57f-44dc-9f61-245df37c8430 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:9172d8a2-b628-4296-8714-956297a72947 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:c82a2c75-25b6-4cc6-b060-3ac8bef74528 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:576ee398-1d8e-4bb1-8186-24db5baf8be7 phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:35874597 uuid:fcf3821b-22b3-4daf-8beb-ff49571a404e phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35874597 uuid:f347900e-0c6a-42c8-a8da-eab69797d384 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36307226 uuid:2796e671-1277-47ad-8b10-49c8101b67ca phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:0be2f7cc-e67a-4587-8d81-ec4272569b9e phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:1193b871-0aa8-4c39-9b23-cee43651a492 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:2845e28d-abb2-40ff-90ee-22b8c0eb613e phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:1212e931-a28d-447e-a8e2-5e9ad333ac81 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:74404340-aca8-44c5-a1fa-f8e9cd294c60 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:56f7bb3f-2aba-4dc7-b825-b9c6947d9dd2 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:2cbab268-62ba-4e99-8650-6995d5401052 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:363feb1d-6c6b-4679-b2d6-8b1a37dce29e phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:a9f3c4fe-d862-4c0f-a374-8212eb12b0bd phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:094ff49d-107e-4379-9639-59486f4e8129 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0d26049d-0f65-48be-933e-a11078e0cdd8 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9d599926-6718-426d-9a28-c0a4ba1c2189 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ca99144f-b239-4693-9300-60a125d6c8c1 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:17177068-77e7-4788-9547-b19136176077 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:aae06a34-ea72-41fb-9b33-cd051fcc4672 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:77cb2f21-39c5-4f70-bebf-bb8513689bf6 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4e6d98fd-cef5-4772-854a-28c09a04c978 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9e2d2503-57a5-47bd-83a5-0eff4ab9cac2 phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36307226 uuid:36329b82-3db8-41b8-9db8-6e16198df2ef phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:b72926ca-9a00-41ca-bb6c-671c633669bd phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:801b1003-2051-4e89-b61c-686bf63f8b21 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:e0e0384b-3728-4946-a793-b05be4fef355 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:b1f38342-1ad8-4814-8164-793feb539a60 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:7541a472-9926-4a04-805f-7b6e3090483b phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:50888e84-65d0-4cad-9226-01edbe62e180 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:cc9631e7-79d8-4291-b183-fd1ee0854402 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:2688680a-7723-412d-9136-2f046a06791d phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:532f1799-42c7-428c-b65b-806f4bd3c048 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:657d5bdb-c6e3-4047-9c97-477f72fe86a6 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:445545b9-658d-4a77-8936-86156f74d66d phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:e1adcadc-6996-41de-a250-0f14a478779e phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:11386b5f-67b7-4333-964f-ce10b8b24710 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:35cbe9c1-309f-4b18-a161-d3907bf0aeef phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d98d6606-add2-4fc8-bc23-c38d76bc9307 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:010301bc-611c-42fc-90ae-1b687f94a5ff phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:199f75e5-19ef-4a59-8b97-983ff3185cfe phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:68a3fa79-e31b-4e95-9286-a808ca615cf1 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:52dab1d0-9272-40c5-89cd-1439bb159b55 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:90e2c08e-809e-462d-ba07-99e4a9a14a93 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4ec9f1d5-e2ae-47fb-8a0d-93e500dbf5b0 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36307226 uuid:ae830dfb-9f05-4d29-aa70-ac4bdf9d8d05 phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:da186d4c-111c-4881-bb31-71f45ecae048 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:38ee3eaf-c4a9-48ef-8801-1cc22dd19553 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:16a42a0a-5c0b-402e-8a22-7662ae2316d6 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:ee8a382a-b001-48ea-907a-76e819b2eeeb phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:d75ad76a-bbee-4853-9a83-d65fa125b04d phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:555a077d-ff04-431c-a73e-84dade69c651 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:2694831d-5931-49c0-986a-55e86df5ce62 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:2ac73a9c-a27c-4c1c-bab8-5d7cf4703cd7 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3bb45746-a8a3-4629-9b02-72722e334fed phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c378f190-4f60-4b73-85b4-be63ac6b0cca phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:2bdda12e-ed20-44d2-847f-d061d86164d9 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:08df57d1-8bd0-4f35-847a-f5cd4ebf4861 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:46b23094-fa4d-4359-b512-a511a164fc5d phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:de122ff5-8fa6-4ed2-810e-acae421556e4 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:085ff615-43a2-4a9a-aa3e-8853eab383ca phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c41e0320-9af5-4616-b4c8-e187027973e1 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:60572c77-a62d-42c5-920d-e81b74a73731 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:6b5ac8b7-fdb0-4ceb-87cf-6ccaf05b174f phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:06fe9b25-c79d-4920-a02c-f7dd334bb189 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:43c1c6ea-23cb-41dd-9373-676cc6763964 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c84b7c84-64c0-4d68-acec-4ea1dd4ff813 phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:36307226 uuid:7bbd8a98-b5e7-45dd-b409-e3c2c8bad2cf phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:890b57e7-3386-46af-9798-859a7f44b3a7 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36307226 uuid:fe88d13b-91f3-458b-8f0d-6c991748c304 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:fbd17cb9-04f8-4335-8a60-baf35288020c phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:4961ee7a-a1a5-4eb1-9884-852d39f4a5cc phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:7aeeed4c-330c-42e2-98f8-2b87032c7854 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:3d1caf57-4176-46dd-839d-fa3f486f6f87 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:1fa2500c-cbab-4274-bf5e-82ae774bd619 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f8bbb09e-4357-4ce4-935c-c9cdb6431e2c phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:5e5689c2-7050-45fa-87ef-e96ac82c6c42 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:36f2edc4-b697-4e2b-ab40-f315557f3ecf phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ef2b87a9-8029-4a63-96bc-5a649f80f838 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:6efdd8d5-d740-4ebf-b05f-9519ba468532 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d6e18c5e-af8f-43da-92a3-2d4c7c0c13f8 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b81f3802-11f3-49f4-8ab1-767d261556eb phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:68124b8e-55d1-4149-945e-94ba497707ae phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b20d9d55-302a-4c1a-95d3-49bb726d6fc8 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:2c9de3ec-9a41-4b3b-aa38-ff4f0374aeca phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:1f6b9049-8e14-4c38-8d14-a2ef0ab7573d phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:e9f0acd4-d9fb-4c2d-ad65-07df1d486792 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:bd8f2b44-9890-4d71-bcf5-5aa6090462fa phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7b995c7b-0bb3-4ff6-a552-86abf88ae174 phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36307226 uuid:e0caf2fe-547f-4949-871a-01ae1af6bc4b phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:255bda86-e807-42bb-8381-1c021aaad69d phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:8d28b603-ecde-4111-b171-3630e8525e94 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:813947f8-2f8b-4127-9797-715fca061a60 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:a9bbaf67-6224-4770-8364-84421923090c phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:1d7738a6-bbfc-43be-93f7-7afaf7d5dad3 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c8ab244a-f437-4c8f-8908-0d0f7f48a78e phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9ebf09aa-4ded-4d2b-b7fe-d5da572e7b6d phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d62a21e9-d6a1-43a1-8f0e-94b0d16419a8 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:74830e30-ab06-4727-bd9e-717516f9435f phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:48bf9231-ad94-4c33-83a5-da5c9e627205 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:14454c29-82f8-4332-b989-100915ad57e2 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:222ecc9b-5fd5-49e7-a298-be61d2f971d4 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b68da30d-164d-4f2a-9614-5dcb232c7ecb phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0981f915-004b-4eb1-8b60-dfa806ca05b9 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c0712c92-b9ae-45cd-9500-111c16c18e61 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7f512f88-5b39-420a-bb93-abf24e1aa3d8 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9bfbd256-6495-4057-ad88-884b1d3fea10 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:cc5ad057-2123-43b7-a262-e0a70af6e139 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36307226 uuid:68e74346-7d2e-461d-a622-db4bf3ccde51 phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:88064127-1508-4b8e-b7fe-3f7e68265ea5 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:00cc98df-bf30-4e2f-81d7-3f6f8370bb43 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:d507bd63-0a68-4410-b165-2587fb66cf44 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:4c0b8080-927a-48dd-980f-8b3355836fea phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:c93259a6-019b-4a82-bc5b-bc189f96b49e phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:943df99d-02ab-4892-a86f-da170ccdf9f8 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:3ee49d95-b5c1-4b06-a83c-6cfb5af6fb47 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:eca920c1-163c-46bf-bbce-e18e4f5efc5c phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:9c3a7bda-810b-45ac-858b-a7ea7c498012 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:bcdec10e-e915-4be5-8388-70597367017f phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:74f08d72-85ee-4252-ad10-9696db424974 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:9593dede-3312-477f-8deb-b9351b266134 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:5cc1e486-256d-443a-9a97-a95536936f56 phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:9c078eb9-1964-44c5-b366-65660393870b phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:38708366 uuid:99e1366b-6068-4601-845c-f7cc76061a0b phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38708366 uuid:e1cd989e-bc95-4d5f-b558-62295a89f730 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:36307226 uuid:6a1e4f76-6d9b-4d1c-ad3c-255a6935c4b3 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:4a8c0b0e-ab94-40ec-8884-266aaf423536 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ad63ec05-cbec-4ce5-bd61-c4d60f3b8d55 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0a2c0478-6c15-4ad9-a11a-1c4aec06e2eb phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:fb2f4839-1996-4423-bfdf-5fda6c121a3c phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d0065576-ba10-45d3-a19d-24355527d055 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c6a07c0a-25c2-4ebb-8d91-0876eba201b4 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ba5325d0-31d4-4247-a736-0d0cab398bd8 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:47052de2-001c-474a-9d6e-0fd858ddfd9e phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3f353643-00bf-4fa0-ab2a-9b03ca356c99 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:badeff4d-334c-416b-82ea-21e2f0ebb58d phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:5ac6e805-2487-4448-afb6-ee9a722f14e6 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:7882b553-6088-4092-ac78-bdc9d1e814b9 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f26dfd3d-a2e8-4b9d-b192-23eaac5c9796 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:fc4e52c7-a671-4614-906d-06d55d766223 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3d8093f9-c4cf-48db-9497-5e6ad1b2765b phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:33f50eda-4898-4d37-8abd-82d630ee7f44 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:1e54608e-8b99-4b8d-a7f8-59ce5be6c275 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b08ee22a-a626-4f1f-912a-8cd011511a34 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:36307226 uuid:62b1a2c8-e89f-4406-9869-2785f8125448 phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:9708f142-6b3e-4a5e-93b2-96f818cff58b phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36307226 uuid:8354af83-2ce8-4792-83c1-e8a420d535f8 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:8db27945-de22-4821-bf3e-72bbde3535c7 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:13687ff0-25c0-488c-938a-20c03058e6a1 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:12ae9a16-facb-466e-ac92-85ddcc9fe7da phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:eac3ae14-d903-410c-baad-3e4fa8266c0a phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:9562b396-6cc7-42df-98ce-cde962d64b5e phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:0999408d-c307-4f2b-bc14-7a5aba9bc858 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:7f596c59-5d9c-4792-afb7-901f223774c5 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f966314b-d4be-42bc-8cf6-8b589c9bf934 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0032712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:8b7e9016-932f-42a9-a732-4c49033d8a5c phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:4db39b35-e27d-446e-ad14-6310c6e8232f phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:b0182069-1a3e-4a7a-a11a-34360129d9d8 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:d64d8bd3-11f0-45bf-b445-b6eaecdec71c phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:def8f8a7-716b-47c5-a472-efea6e1508b0 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ccf3b09c-b5c8-4b8b-aae7-fcb8dc9e0cfa phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0803641d-7c77-43b0-8d3f-677e2cc24218 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:af2d7c79-d7f0-4c3c-aebd-49d471302e08 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:3ec16c21-5686-4130-a46f-83a060dbdc29 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36307226 uuid:14f01d52-961c-4a1f-bc60-4872419e3087 phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:a366a65d-cc2b-469f-bccb-dc891f966db1 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:35874597 uuid:9aa1276b-e7d9-4614-9bdc-dc1b716bfc41 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35874597 uuid:cb803b26-44fd-4fd5-8dfa-a77cd937504d phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:f97dafb9-5a85-4b7e-88dd-f04c4169a81c phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:652e5c44-b29f-4ae6-ac81-a6857d9811f9 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:cce290a8-dcc0-4870-9349-aa5d7ce665dc phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:216ff47c-8385-4562-802e-9a1170feb6c7 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:3ae463a6-b3e7-43bf-8d74-45e73e52406e phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:3ad42816-4d2f-497b-93e5-94160787eaa8 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:f5caf225-3531-43e9-a30e-04d1a83aad9e phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:f020abcd-042d-4fb6-8cc6-a6a4b0d5af52 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:5d397cae-ac2c-4aff-ad0e-883dc3deaedd phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:9f84d44d-f990-4a18-bd20-2fd02c6328f3 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:82332b53-7f96-41e2-ad75-1a37cefbdb86 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:cbdbd0c8-c4da-436f-b410-5c0b6cea1313 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:c9fd3fe6-8329-497d-a407-77a2a8c757c0 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35874597 uuid:46a80975-996d-4a8a-bd43-9401c354800a phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:35874597 uuid:ff420e3e-428d-44e3-84b6-0a0436617ce6 phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35874597 uuid:cc270b9c-4e7a-4b78-ad04-d0633f0cf3c6 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:36307226 uuid:5fcd9001-cfb5-436f-9239-d036e57f71c5 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:75e26596-1870-4ac3-9a80-3032ef739c31 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:9e8b4c80-d8fd-4ab5-9642-9e5e96e8b77a phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:1dd78f3d-4676-4e94-8631-a89eb46da92e phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:949f0c63-b5f3-4cd4-bba0-83b6f9fa1d84 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:ff6e5fb3-00aa-437c-8ab9-4129bee2080f phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36307226 uuid:4e2a2173-4282-405b-ae0e-f1641514c539 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0020217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ef0a3c35-aa20-48c8-93dc-e342c3f8f57c phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:173baac7-a5de-4e90-a52b-f08c8ca082dc phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:0e42816e-011d-4257-913d-1c9a174d7cb1 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:ae17afd4-820e-4995-b89c-c6946c5c09d3 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:f2beb749-e993-4992-896f-b7dc369fb829 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:de9e294a-872e-4b62-8c7f-6b7d0eea6c40 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:53345945-08bb-439f-a636-bd6affe6ec87 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:9f5dce93-cdda-4e5a-bc42-4b480925e163 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:cb1fafba-e3f8-4a3e-8fd1-2497da77a4a3 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:11189f1c-6f79-4181-9e03-1c2a693f0f55 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:770f17ad-8e05-46e3-aae2-3cb79641be29 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36307226 uuid:c7e2b477-5db4-4886-8329-f169996a209a phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36307226 uuid:a8201a50-577f-4174-b1d0-cef501cb53c9 phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36307226 uuid:7157f12a-0dad-4720-a8dd-58e98f2d843c phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:8e2d1501-bea1-48a4-aca8-384398584151 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:170d93e5-2c85-4709-9b1d-58a081936688 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:2d64e04c-33c8-41f3-88a4-48578dc3e4be phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:e0a50a98-6bbb-4ef9-be4e-d48fe1923a0d phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38708366 uuid:9efbdb63-0094-4694-809f-d3df61d333e9 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:58cbe2bf-99ac-461f-985b-bf86aae7b681 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:2e0199f4-3afa-4b7d-86b8-9ff90166dbfe phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0020221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:3e1044b8-9eaf-42bf-92cb-04cfc9623586 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:03b092a3-857f-4e97-8abb-bd5f8f9ba740 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:1b1dbff6-93b1-4a9c-8996-1ad7b9b0a777 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:74aaeaa0-64ec-4b0a-99c4-5f562c1ab8d3 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38708366 uuid:6f464714-00e3-413e-8f8b-f340f93bcf39 phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_disease OMIM:620537 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:38708366 uuid:040c7532-f9aa-49f5-a270-8b9f3c697fdc phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:has_gene HGNC:6254 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38708366 uuid:48eeef34-e575-4d0a-b32a-7b7a9b5e3b9d phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_phenotype HP:0004757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22155372 uuid:e2fe29b0-8613-4e30-b8e5-bb4dfdd1f89a phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_phenotype HP:0012232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22155372 uuid:e62bc67d-eb11-4b13-81cd-5fc479330f3a phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22155372 uuid:c337150b-ee84-4216-b66a-2bdf2d9d20cf phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_phenotype HP:0031972 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22155372 uuid:eb12b682-0cb0-4841-b8ac-4ac9c6955c99 phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22155372 uuid:e7fa7fb1-2209-474a-9130-8c00b738dba0 phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22155372 uuid:e0036eaa-acba-4715-b089-0d45b3a644ef phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_disease OMIM:609622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22155372 uuid:bd06396c-c4d2-4e7e-8a20-6faad3d42704 phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:has_gene HGNC:6263 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22155372 uuid:03225ff3-f150-4fd6-9715-71c45dfb2464 phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_phenotype HP:0012232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:15761194 uuid:aa30dd4f-1196-41d8-9bbd-6d8e5a728f15 phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_phenotype HP:0004757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:5c04e08d-cfee-456e-8ed6-73f502c56d7a phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:7cae35c3-fd47-4399-8dc3-20855d7e0144 phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_phenotype HP:0031972 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:38d398c0-0213-4996-a516-cbd82c421dcc phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:787f315c-28e4-437f-9dfb-41e7eec98ec4 phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:719201f0-42e6-49a4-8f94-a9137892faf1 phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_disease OMIM:609622 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:15761194 uuid:1aadf549-7fd5-4193-aa29-534edd25abb5 phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:has_gene HGNC:6263 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15761194 uuid:6011aace-d2ed-4ced-8c6b-2397ecc870c7 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_phenotype HP:0012232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15761194 uuid:1dea7a11-87a0-4782-9e08-f92ac4a9e7ff phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15761194 uuid:3fcdad63-91c5-4703-9132-c70d222916c4 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_phenotype HP:0031972 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15761194 uuid:5f9fb309-d413-4e5f-9fe2-ee86e78b4603 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_phenotype HP:0004757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:023248ae-2b61-4d97-8b15-b3709e067524 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:a8000e11-a480-4707-9e30-0a214e2c1d08 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15761194 uuid:35d59cc4-f6cb-404b-afac-f920fc49fd77 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_disease OMIM:609622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15761194 uuid:31fca216-d671-4b8f-bb62-1178bbdcb299 phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:has_gene HGNC:6263 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15761194 uuid:ec542f23-df69-4304-a179-16897a30d693 phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_phenotype HP:0004757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23440193 uuid:486a9ca1-db03-4a6d-b8a5-37a00b2efe1e phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_phenotype HP:0012232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23440193 uuid:147c1e0e-eb35-4d37-9c1a-b3ac501b0852 phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23440193 uuid:ad07641f-6318-444d-96a4-63646174bb0f phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23440193 uuid:708ae5d9-32ac-44f0-b473-e69fb3f76df8 phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_phenotype HP:0031972 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23440193 uuid:d90c18fe-5eb4-4053-8534-b77a2fab5f52 phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23440193 uuid:8f07c2a4-bb41-4233-801e-7cd2d4709380 phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_disease OMIM:609622 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23440193 uuid:6d81a532-3aea-4fee-8fba-7deb09344f90 phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:has_gene HGNC:6263 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23440193 uuid:b4055faf-62b9-4dc1-ae2a-19963f813460 phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:29037160 uuid:4c4eb651-2698-4b4a-a9f1-b26be0f0737f phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:has_phenotype HP:0031677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:29037160 uuid:0d96b105-9d51-4cbe-b817-fd1554a252ae phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:has_phenotype HP:0008527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29037160 uuid:1b8db532-eb8f-4c73-ab9d-073652ac22aa phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:29037160 uuid:f7c60fed-baa9-4cbf-92bc-a814db6b9fab phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:has_disease OMIM:220400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29037160 uuid:615fa828-6ac2-44f3-b461-93388ce38247 phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:has_gene HGNC:6294 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29037160 uuid:d3bd2681-d6c9-4e71-9ab4-a541dc0eeb8e phenopacket.store:KCNQ1.PMID_29037160_Case_2_family_II biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M2D infores:phenopacket-store PMID:29037160 uuid:efb02e2d-2a1c-4c80-b4ac-14d1b007e1d9 phenopacket.store:KCNQ1.PMID_29037160_Case_2_family_II biolink:has_phenotype HP:0008527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29037160 uuid:6339b106-311c-4c2c-9e95-9092fddd5739 phenopacket.store:KCNQ1.PMID_29037160_Case_2_family_II biolink:has_disease OMIM:220400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29037160 uuid:7efceef4-eab0-4890-8828-2d9e5f46fd85 phenopacket.store:KCNQ1.PMID_29037160_Case_2_family_II biolink:has_gene HGNC:6294 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29037160 uuid:2e188b39-7cc3-4a30-b3d5-83c6bef49398 phenopacket.store:KCNQ1.PMID_29037160_Case_3_family_III biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:29037160 uuid:6bee959c-7c19-4846-93bb-78452a58674e phenopacket.store:KCNQ1.PMID_29037160_Case_3_family_III biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:29037160 uuid:9ec7d0c7-19b5-45d4-a959-2b597373e9ab phenopacket.store:KCNQ1.PMID_29037160_Case_3_family_III biolink:has_phenotype HP:0008527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29037160 uuid:a7415436-2aa3-4853-94f2-2750aa36db62 phenopacket.store:KCNQ1.PMID_29037160_Case_3_family_III biolink:has_disease OMIM:220400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29037160 uuid:9706471c-ab71-4a17-9da5-4a7e479127bb phenopacket.store:KCNQ1.PMID_29037160_Case_3_family_III biolink:has_gene HGNC:6294 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29037160 uuid:49acc45a-e55d-4c86-8696-f29f8ff6400c phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:23086397 uuid:90bb5e8a-932b-43e0-a879-871bf95b8438 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:23086397 uuid:1d109b8a-7ee6-4d4d-9a41-11898f1c3165 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:23086397 uuid:da834725-8b9d-4916-b3a0-755866f03db9 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:16153579-b2b0-4526-a240-722294810bf8 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:f7257204-831b-4da0-a090-6c34c8f274af phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:3f359599-beff-4add-a50f-5e80115369fa phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:67775c18-8306-4737-9948-a40c64e336c2 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:82bcc3f5-3b18-451c-8ebc-28cb6e803ff6 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:61210808-dc46-4be5-83f1-728b68d2818c phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:d3b00d45-d3e9-4067-b9cb-b57ec8fb6170 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:2413bd7c-787e-4db9-8f2f-520929edfbe9 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:bacc009d-6202-4004-bfec-ddfed30d072e phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:3ee7e506-6d1c-4990-b6c3-c422e388f051 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:41d7886e-eb95-4fc1-800f-9b8e62e4874d phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:ec107e27-4ab4-4aec-bc6b-a26ea65fb0d7 phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:23086397 uuid:a9d001c5-9df2-41ac-853a-5b19d1b0e25f phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23086397 uuid:2c6ecc28-4af6-4987-9358-bf9c9e4a23c2 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24029078 uuid:8115e7a7-3964-46c8-85eb-bdfdace77309 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24029078 uuid:cfdf844d-02b7-4e22-baae-194932ef2c16 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24029078 uuid:41ac6393-69bb-4d89-8b9f-8c6374b5260f phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24029078 uuid:f7256ec2-80db-4d6e-a9b9-79cbe39d6264 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:d0522107-d20f-432c-a6eb-ba5454b44343 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:3783aac9-9e70-4f5a-838d-ee32b49cc9b0 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:619e3611-220f-4f1b-a3cd-5934bba411ca phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:afbca778-77e1-4766-bd3d-71797177dcb4 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:115ca79e-6257-4809-996a-a52256b85a32 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:6f7d5180-1940-4936-80e7-1e73666632d6 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:54d95c9e-c228-4127-9da4-6050198bbf14 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:4748a90f-bda8-4afe-8e64-95cbd1b3202b phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:bac459bc-bce9-4d4c-a149-2807d1ced3dd phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:cf4dd906-d54d-4a3e-a700-534620837daa phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:2b52815c-2e04-41e5-acb5-5bc9bc98d1b4 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:13bc0fbe-6472-4da5-8f96-61b543d6e878 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:431f8c42-f8c8-4f08-8b0a-91df43766922 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:d2345073-9ed5-4b34-b597-efb8037138dd phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:24029078 uuid:9f04e0b0-6434-4d68-8aad-951caadb70a0 phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24029078 uuid:33abf733-4ff6-4272-9b50-faa3411b690e phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:082aa2a6-f5f1-4efe-b3aa-340a665aeb51 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:0fe3ff54-1672-43c9-805f-084de11284d2 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:b6ffb907-7f51-4d62-8bca-8dc7b3185d53 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:9dacfa90-b578-4571-bc85-8252f875a65c phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:c98720d1-82ea-4e4f-952e-bd8e90ecce8e phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:8b01f443-dd1a-43db-aaa7-3a7b72c963cc phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:cfdb0430-8e93-4b2a-8bf7-c713011992f5 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:b456b047-6d60-402f-bac7-69758e7bf25a phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:f38ded00-d1ac-4aca-9499-aa9663ca8505 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:7bf2f2b7-6d01-4392-bf40-6550c540ab08 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:13e4da52-320a-4b00-af27-ff73d3e2a658 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:11a1b536-0e33-4c33-9b3f-c6aac24156f0 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:c85c579f-7df4-46f0-bd0c-1ab4f133cca6 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:a78631dd-77f9-4da9-b349-b3dff8fb9799 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:23086397 uuid:cd886ec4-ba8b-4f6e-b84c-185996a32a18 phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23086397 uuid:31f79d5a-0d3f-4c11-bc34-d753d447a82b phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23086397 uuid:139c78ac-6628-4e47-b19d-6f5a721261fc phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:a6d3dfe7-0224-4a1d-bd06-803f8bd05b10 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:ed231a8d-c7a8-4504-98ca-346e261085fe phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:a5582944-539f-42fa-9c49-a3d0b0f1fdf5 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:f121d2b3-9469-4b0f-bfde-c9f9bd73db85 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:6a553367-282f-4a4e-847f-9b3888ea04c6 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:a16a65fd-767f-4d2d-9b09-ec3a5060b106 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:0c1471bf-67cd-4dd7-acca-103d94965150 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:1a7306c9-b403-41ec-a1b3-b9c21465d7cd phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:67245c44-4c6e-477b-9a9c-20c09da600f2 phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:8b098207-e32e-4a3b-a8ed-0d870bf9a23e phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:c3f455d2-e188-47ca-b6b5-7a1a7d7ef59c phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:3d4bc25e-5702-4086-b8e1-f75fc93974ea phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:8ce12f55-7f84-4ca2-a17b-c9c229a7661c phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:23086397 uuid:65ef4f32-6f94-4b7e-af1d-e45deb23fc6d phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23086397 uuid:1e3f85e7-8ab7-45d2-8bfb-b20d62e671b0 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:23086397 uuid:0dae0988-2267-4c0f-9ea4-bb5af85c259c phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:23086397 uuid:ebc231d6-4610-4c4d-950e-69622caaf359 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:3f9064b2-c2f4-4188-97c5-829104da6bc1 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:5144bbab-0aff-45fb-9272-b7e2cbd84b54 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:46111320-ebbc-47ad-9208-739dbec739cb phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:83004c78-aa25-4462-a294-cded05aa9f16 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:626ecafa-1783-4a45-985d-bda97ceeb0ca phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:04fcb727-454c-46b4-8d8a-116ff0edd5f1 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:2abd1a50-3edf-4f1a-8470-83eb473dcaea phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:01308f9b-81d3-407c-889d-418bd51ffa30 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:46a8c3f2-3ced-4736-80d8-3a3e72b93559 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:4d749c5d-9318-43ea-8ec2-9b07270847cc phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:0625a5b3-1772-4063-824d-b50fc586f7fa phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:c2067e26-33fb-46e3-914b-9c28f0447533 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:834a96ee-d384-4678-a4e3-ef1e02ea8754 phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:23086397 uuid:9af63962-abe0-49ee-bb95-883c66e83fbb phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23086397 uuid:4ff5e971-bde0-4b32-aeb2-fbe5798192f5 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:23086397 uuid:c984414a-ec35-426f-994f-f9c38292e99e phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:23086397 uuid:a5417157-815c-47b0-856c-5a6917c13dd3 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:23086397 uuid:71f6c850-6322-4d83-bde7-25aa1430a7fc phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:5698a459-9f8e-4142-88b9-ba7e0661cbfc phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:3cbfeb0e-8837-4099-93f3-659bd2f1ed87 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:1437f41c-27ab-4ba4-94b0-9c2e5f9c1e76 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:80e67614-8d14-421c-9ea0-fcdadc367882 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:2ad2779a-2ce5-45fd-b9d9-02a3766028d3 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:179dc517-d551-411d-ba15-040a480ce35f phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:aed9684a-e907-42c0-ae5e-e2a0c715867e phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:8a394975-82e9-4788-bcde-fffafbe4155d phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:7ad05887-194a-4b56-be7f-52edd4dfacf6 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:effb385d-aec2-454f-894d-efba95aab0ac phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:51c58222-d149-4c65-bde7-cd92cb8bcc37 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:940d64f6-be7f-45a8-93b7-59cc19336fbc phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:23086397 uuid:f0fc01d4-c491-45a0-9b11-4710400c43d5 phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23086397 uuid:11170eba-bd19-47a6-9521-53a2e76de0de phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0032677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24029078 uuid:31956248-6ade-477c-a6df-b26abf50fb61 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24029078 uuid:13b23e50-342f-4b79-a0de-8b3015664622 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24029078 uuid:3c2e8318-b15a-4c20-9962-3a7a9a200d5c phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24029078 uuid:4164db1c-28f0-41d6-8423-0257f41e8769 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24029078 uuid:4af83a49-b932-415a-9546-ae89e6754adc phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24029078 uuid:e76f9d28-225c-42d7-886b-1b6ca2be9651 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:baa1e17b-eed9-4f73-ab88-d10ed70ef47d phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:dba20c72-ed8b-41d2-83ef-951303550025 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:4c98f6f6-e599-4e19-8e7e-281b2968f797 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:59e4fdd6-5d3c-46ed-9a2d-98ed1c0560a2 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:7b98e6cb-d654-42a5-a47c-243a4a1b5c2d phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:1c26d553-3110-435e-968f-c2c48ba61b0b phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:044376d7-dad9-4c3b-b8f6-53c4291b8245 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:afa62743-3e8f-40fd-96bd-cb3741624b00 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:7860974e-461b-4d97-8b95-fd831e549a76 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:ce7f30ef-3285-4b2c-b2f0-3666e6baa55f phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:1f03ba2f-ffb7-4502-a878-3eed8e2fa03e phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:a5c42043-73ee-4cf6-b5f0-39b2f8e764b0 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24029078 uuid:08253df3-f1bc-444b-8df6-8f0c04a2e9e4 phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:24029078 uuid:3f02ba48-fa70-463b-8d65-7c5a1764c7ed phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24029078 uuid:8947dbf5-3990-4b9c-9675-6d6bac2f0737 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:84e59658-3203-4362-b4d0-9589f502637b phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:3e82e4b3-4fc5-44aa-afc3-7d58988bbc7f phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:3b7b77e8-49df-4f1e-969c-c3fb049a410b phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23086397 uuid:59a05ddf-9718-40a3-b251-4eacf5016491 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:313fd450-1202-4153-bb47-03c1be4b844c phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:79230c23-a84f-4f7d-84b7-b2c45c2ad86c phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:aef8fb8d-c694-4465-ba49-32d21ceeb950 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:80f4cd30-1bdf-443d-a149-583b6e7b0e46 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0006915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:58c76a55-0882-4f58-b40a-1f9a31167db9 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0032773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:5c9d0b60-9a54-477f-bcc4-4d4be141f822 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:a4ab1271-1f00-4f7a-9416-3124fb5a1ed2 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:fe7706ee-0300-48e1-95d9-109c97323129 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:d3f9470d-bee2-4c66-be1c-0f5ec168652e phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23086397 uuid:e0f9bfa1-7a6d-469e-a747-c721575a4d4b phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_disease OMIM:614959 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:23086397 uuid:85aa3eef-3a44-49f5-b020-938025be3db4 phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:has_gene HGNC:18865 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23086397 uuid:753d9bb9-66d3-4946-b6ef-871efcd5192b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:aa116e96-9e80-45ec-8cdd-5a3ea1ba3048 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:2a599133-d601-42a9-a6f5-2cd51579fc56 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:ca498b86-eaae-4a35-994d-0a60a50dc149 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:4791a5bc-c580-4f03-9bc7-bf60d9ad3fb7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:41178823-222b-49a7-a106-e84a429ecad5 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:99c761a1-b5bd-441e-b885-0fbf6ceef7b6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:1a4a8282-c199-4c41-a6e6-1d51766dba58 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:1209913b-ee2b-4021-b6c0-803b43252bdc phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:77691b17-2172-4d45-b0ba-d61ed025fd4c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:2c78437b-225d-4885-b46e-acfbe41ec4e3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:69296768-e430-4705-9f77-932fb8f8cabb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5d44eb60-ffbe-4071-a691-65ea56690027 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4106f172-ee21-49d4-9c3e-9f24c9455928 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:ca2e9d69-6ede-4877-a647-da1f47bbace7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:14e15d0b-8b7b-4a7b-a0b2-67f017dab492 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:335aeb2f-d7e1-4179-8f7d-11ba71b572d4 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:836e028c-5af6-4555-bbf4-36d24e416c05 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:76cf4ed4-9022-4cde-9d87-2963e30199fb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:6ef5cc13-b7cc-4e50-95a9-9f54aa549099 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:18d1ca86-b9ed-45c1-b34a-474a2a803f0b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7a91b517-1f16-4cad-8c55-c619d9b8abd3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5d958f27-2059-4552-95fd-c5b5583dea44 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:44058ec8-2fd6-45bf-bcb1-4ed8992ec170 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:1ba25a14-2bf1-4ed2-9924-0c819883f818 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:46e27ae6-03f1-470a-b4ce-f756e6db7d0c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5a331147-60f7-4816-849c-dd6e6ebf90b9 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:bb098e59-c79b-41c1-87d3-28244aa44baf phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3c0f2c8c-09a6-4af8-bb2c-9b7a993597c7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5a04ac1a-6edb-43bb-8e4e-6b165af27827 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:af8ca267-15ab-489f-98ae-2a757d2ffa4f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:ba04c151-d7e5-4bb2-ba7b-471b31fdcddf phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:4c092b6e-2754-4ab2-97a2-bdf6ae645e45 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:e070452c-3110-4c3f-b007-a1c377ae6de3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:deccbfe3-e5fd-4d53-bfa2-102c1f4dc991 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:97732823-cd8d-4622-bd4b-27dc2a581c20 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:efa9add4-8ea3-46a0-92e0-3181935d461e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:e5f60dde-86a3-4854-9eb6-5c2defc587df phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:3334b61c-e47b-4d3b-baf8-8f32036a04d6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:7d27ae00-ade8-4d33-a757-e20766c43384 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:188bd15c-7e9e-49d1-896c-d67ce37921c4 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:f531b6d8-9da5-49a6-9649-51cc1953ee91 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:85b7d6f3-dfe7-4b99-a6ea-0469b661df1c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7e0ef39b-df45-4963-9bdd-42f9bf632d8c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:e12c0449-48eb-48e1-beae-76a959de4dd2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:999a5baa-61b2-4388-aee7-e5e5250b0170 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:90e6cac9-f479-4744-b458-f0cc9229528c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:eece6e0b-fab3-471d-bac3-507915dcafe6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:8d073392-b848-4cc1-9c1b-e2e7b3dd02b8 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:59d6f457-65e4-484f-a4c9-f59e6ecd179a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:a7c25c54-6621-4d6d-81f3-6c2a68ed562c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:12fcef00-ac5e-4d1d-858a-cff392b42ab1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:c5a618af-6106-4896-94c4-128e5f84d54e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5459408f-73d3-4695-ba73-b3b748c01bca phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4d49db8b-59d8-4cf1-b01e-7b455439e602 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:af4f6603-5265-4a9d-bd79-e8ed2e022105 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:ac903c1d-cbe9-4f71-941c-e9df9d37a1ac phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:33093c64-897a-4ead-a4df-b4680370c70b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b2e982ab-750b-4b84-ae3a-1943c1441308 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:c6c802ed-3018-4dd0-949d-f02a0a349832 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5df05e9f-aa89-4372-bd2e-b6f83cb839dc phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7119ae47-afa7-4d06-aa4c-9c45d3086be4 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:72f80b62-cc2e-4915-83d2-bfa325e52698 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:1636da6e-4c72-4a4a-890e-d3cf9269bb6a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:18e5741e-af3d-454c-a872-091cdf8fec8b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:5c02c10c-1a2d-4270-809b-dd8c8e2e84a0 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:df63c82b-0d99-48d8-afba-ed4b38ab4e31 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:019c91c4-172d-4818-b069-732bcefa1a1f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:cf51bc48-60c2-40df-8ffc-6187190e3d3b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3e10584f-6984-481b-952a-5a20e650ef41 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:d254aab2-fa6b-466b-8f40-76f65745a4fb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0012104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:61644324-ce35-4980-abf0-bf0676821f5e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:62778682-bb39-4eff-a4be-02313c95bb88 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:bc3e5301-bd10-487f-9259-837af4de9ddf phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:bc1656db-68b9-48e7-a3b6-91f8bf324f66 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:38632fa8-6e8e-455f-aa08-4ab0bbc662dc phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:0c524e85-64c9-4841-ac94-52ef8b6592b6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:e09e8e60-ecdc-47b0-9924-b8e058c5411c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9c42bba1-b425-4eea-adcd-e1162f3d290f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5ee9e014-895d-4e10-9714-f906b47945c2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:49992f52-935f-43d9-9e59-abfd86c1c891 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:76c6130e-02db-4f76-b16d-257c7a802695 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:1803e042-d72c-45c5-a65c-f16723e03d3b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:29e73466-314e-4ecd-9e45-4b9e7fb414bf phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:f6d651a3-e905-43b5-9df0-a7487dc31761 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:463748b6-e70d-4e4d-8612-58a409f8f038 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:a79e436b-eb99-4560-a0f8-1ee7beb7c845 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3a6a73de-ae2a-42e9-8047-b99b21c6466f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9080b34c-183c-4531-97c4-9853ca98f962 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9a545d83-6328-4027-ac39-387bb2162411 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:630b217c-039e-4785-b463-a93c1869d6a1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:c8577b61-8f7a-47a7-b89f-e25c6fb6de9d phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:367b41cb-1e6d-4e52-922e-3cd1833a8053 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:75ba1453-29fe-40f3-aecb-48130e2d16d6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:40ddc3ce-64bd-4abe-9dce-ec23e6fd2a2e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:2f4195c6-7921-4f9f-96f7-5f6f0d03fb1c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:54e6f502-6e0e-46c2-8a11-c8b324573806 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:bd0eb71e-d62c-426b-8352-02f14d2d8e56 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:595e846e-fe7c-4680-b8a2-90e64500328d phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:23809be0-3b78-49d9-ad96-db64c08a6c44 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:2bea1c37-0afc-47fe-891f-c1ff3e355b5a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:82b55acc-eb4c-4d56-ab65-a10c9255d913 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:34baa69b-3a20-4f30-8726-1f0353660361 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:92f02763-36f5-4dfe-a602-27c7398e1011 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:434fa5dd-2866-4592-b8ab-00d19c9176f4 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:2e7e6163-d6fc-4a5b-81d4-a2eb9e6de757 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:0f2ded64-50b2-4e35-84f4-852d76b2cb1a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:1231e2ff-a08f-4582-aa3d-bda9f529f67b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:b97913be-6088-48e4-98b2-af7d9f27c698 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:de01d57c-a5ec-4bb2-a6fc-069f2d3ffa71 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:61d88573-2b47-4ced-8e5f-ac835f3f368c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:db270a6c-8b55-4f57-9801-eec2796e9f84 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:b9796a53-d6cf-4214-b997-5be46b0a6159 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:2ef044b7-856e-451a-911b-bbe148d86a50 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:c00db034-6206-4b3e-a0d3-f9ff6f004e55 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0012104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:df7ad921-9006-4a21-8b57-55205f4f9046 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5ab19209-0768-4f5a-86d8-9c39b6c17e40 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:61f6479d-b6d6-42f1-8028-a925655ac0ee phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:95ff18a2-2041-4975-a4c6-b9e4091ba037 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:8b1a7d39-d861-4d18-986c-4d691f556b58 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7dade4f6-6a65-4d32-b4e3-67f900394741 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b58a799c-05a1-4a2a-84ab-3a8adc822a1e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:543a5127-85df-4618-8049-9ba4122baf64 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5d6f5a00-bad3-4d6b-9343-a8c35cf9a9fe phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:54e9083d-315b-4a01-8b40-b517176216f7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3422980d-93ad-486b-a00f-9af218b597b3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7962b56c-b445-410b-8a44-a40f73891fc6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:ec928a15-4e32-4c18-9361-e8a7f643571e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:70759e00-1133-4aa1-af6a-0a45e52adb13 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:f0a29bd2-c00f-424b-aa61-a9473e36c5dd phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:97dcef5a-8baf-4f8c-be84-fe13e03fd8cb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9f1846f7-2275-452b-b843-56446ed59b7b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9adc3b40-d48d-48c1-b7f4-362ca36d6d09 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4d40b0a0-d2d4-4a27-b477-89adad99aa61 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3eedcaa5-6100-47bb-a6be-f584fe24de99 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:f75c0e32-0b00-44e1-8bdd-eff0e1227dcc phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:d4472aba-5585-49ae-9098-f8169fdb6f1c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:6233d52d-bda5-4b64-a32b-9e204cf72b01 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:923dc5c1-f281-4535-b38d-4e18817e623b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:3e13088d-9e22-445c-9655-8979e39513c4 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:317ac563-6ca3-4383-aec0-b3fc97648add phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:dc5f7dea-9959-47a1-9490-7ab1040e972d phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:cdd8271f-7ef5-437a-8cbc-64dbeaa3b64f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:c728a46e-b68f-459b-9bad-7d1ba8171253 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:ff5540fa-eb76-4bc6-9cac-53713f6a912e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:8d778202-6f15-4e60-b65d-8ea27be53e9a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:5b109497-a4c1-4b5f-8285-272887ae7f99 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3a526be4-eaa0-466d-9ca5-e50ef75b606a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0012104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b9082a98-9658-464c-af5c-9ce46cfbc25d phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4fe9af19-f76b-439b-b2a7-69e13aad3e2a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:8ebe7a20-6dde-4152-ace9-65051d53d6f5 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:ebe912cf-041e-4f8b-9aee-336afa8efe01 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:51425d2f-df7a-4af7-a9a4-79ae8b8d0eab phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:291717cf-48b6-4139-a8f7-4c8728ea18ec phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b8b8e51e-7a49-46c3-90e8-d13e62aedf38 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:aed9131b-71df-491a-9c18-a79016f33047 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5128abc5-ae0a-4c3f-af1c-fb76d8c93229 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:33bc2c9f-2c58-463c-916c-b902df888090 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:786b93ac-1992-4fa2-b55d-bd19970dde7f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:81931fc8-1e74-482f-a50c-961c5915d55e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5bded0ec-407d-4130-83bc-dbd46822030b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:dadc7870-115d-45a5-b907-3dc99c870475 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:eaea37e3-eaef-41ef-92f6-8b0b3fd029a6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:e95ce4b7-4b4c-41f8-9a04-98221abe1d7a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:fee985c2-a977-42eb-bee9-6803f7220943 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:2e56af70-cc97-4973-b284-44028c21a14a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5d0f67b1-8cb7-47b7-895b-0f8184c2ab5c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:0f3c96cd-b5b5-45fd-b264-87cd4dfa0ba9 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:8a20baad-9073-4193-ad8b-2823cfd43696 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:6d3276ce-4919-4c50-8506-8adb24051fd7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:e9ba03fd-fe02-4548-b575-4d2cd195991a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:2eb6997b-5790-4fb5-82b0-7024163fd37b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:5baa07b4-73bd-49aa-840e-ca115965d8fc phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:f57fd0fa-e172-4628-a8dc-f1be32ea2b0a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:793fa4a2-29da-4700-81ff-777ea6100db9 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:c6cade02-edee-4888-bbdf-3672b99d5e23 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:1277cd13-f27c-4977-9b40-91dfcbd8acb5 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:8b31e9ee-270e-4e4c-94a1-4ba4c8768a75 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:4492009b-0475-4895-b814-837a20edbf87 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:c4558dcb-fb09-4f0d-bba1-dc00d26515fb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:f842864e-a151-4128-877f-2060712130c3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:bf8869f0-5147-45be-8e3b-38db99178b3e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:0df7277d-cbf7-47b0-8fc7-e4b4fb47801f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:dc2cbd17-5012-491a-bbab-c31181fac581 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:2949064a-67dd-4b23-9468-db9abb9b1734 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:a1ee5a0f-0ecc-4d4c-a7aa-6fe11fbc24bd phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:05afe4eb-4d6f-4801-9929-c6946eb63777 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:24239c45-72e6-424d-9a30-a4046b51cc2e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:2d7b1394-9693-40fe-b065-5ac45c8582c6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:fbbb2aba-9906-4e18-bdd4-8658fd26529e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:9c492117-ff2d-4012-9aa8-24eeb723d23c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:ae6ea1ac-d283-466a-b406-0d62204b1296 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4b4eee61-641e-42e4-b617-e9bb05df775f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0012104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:dd0d0070-8ba0-40e6-b409-c8ad05415bba phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:68b53abb-c525-475e-8582-69c060795bcd phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b0a9141d-f8e6-4e04-a007-b8edcbf0c069 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:d89f8365-8a73-4ea7-af14-90672046ed20 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3ee6e9d5-88d3-4ac8-934d-be31766b3222 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:812c9776-e6f8-4e80-8b1c-2bda117d1c89 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3b8f00dd-56b6-427b-846a-1acb8e31ea46 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:fcb0e921-6201-4280-9462-f251aa47489a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:0ad28256-b8eb-41d5-a690-9f28be6e373b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:69d46b5d-db2a-4865-b9ea-18a521a318b0 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7d9692e2-ddea-4aa6-a675-fc5c23c8a5f6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5710f07e-710b-4ef9-a485-55f8d71893b1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:1495b039-8b3c-4c9e-abb1-ea904d627db1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:171488f8-2fd0-4984-a79a-ca4b950c3518 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:ab62b92e-aa0b-4daa-bb65-bbf7520408b1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:df5ec835-9c8b-4321-a77d-f2f1eb399f52 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:5861d5d8-8600-43ff-aac5-5c36f59b64d7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:5b394797-05ee-427f-a302-ccad0914903c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:f33ea861-a742-4300-abf0-9fc4b7e3d23f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:92a47327-957d-42df-85be-9689f2921883 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:b0674c99-7065-4967-9085-bc15245ed859 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:9c407abb-d895-44c6-b03e-7cd85febdf2e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:a515ce39-f209-4d1f-b3f1-0777df852055 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:8615fc55-6f51-4b2c-bd3f-722fec2a892b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:ced1e5b2-fb12-4798-b8c4-b8ff944cfff3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:54b1f61c-586b-4501-a799-e43502f6ecc7 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b7aa9478-c5e1-472f-83e4-3be1a0361523 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:a1515f18-3ad9-48f6-8c92-afa7fb50add3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7d92a2cd-2eb5-4d4f-9fee-c44ead345102 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:78cc9fe7-3327-461a-99d5-387a5afcddce phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:bdc2d2fb-e304-47a1-9074-bdeb7149cc25 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:1b0536e7-a229-492d-b5c4-53cc99da53fc phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4308a236-224e-425f-8a84-f9abf378ec19 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:04fb4cb3-aa35-4426-8b68-34ef15baaf51 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:23957ef0-738d-4635-9fd5-21c8711b53b2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:59ece0af-25d3-4e5b-9e53-3978a3c36a34 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:8c2cec07-08f7-4e80-86f0-cc31d731112d phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:353e1cd7-d6b6-4105-9940-07fb9f0c9000 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:442fc60c-fcf9-4bea-b781-ca6ea358f9c5 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:075b7d05-955e-4123-921d-c62738a89b7c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:fa3d88fb-1172-453a-85dd-3e4ffeb0bf67 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7f8fb06f-5a09-42c4-b354-8c8daa7637c2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:fbaba707-27f7-49e1-943f-df99a484bf3d phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:05a83cfa-db09-4864-893c-e2de595ee6b9 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7f40e98c-5364-43b4-a88a-fa9e7b3191cb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:aa72a507-bb24-4889-9a3e-a01cf91fcd7b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:3192ff09-54a9-4ac4-9210-43da8ffb2239 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:cafff055-53fd-4a3e-b3b9-685f257ecbcf phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0012104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:91617f2c-82fb-4762-a02e-64e5be078804 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:65b35c64-8198-4fcf-929c-00a749a0c6f3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:45922350-1d02-4a62-ab08-3cd8bff4c378 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:f11685ca-2cdf-4980-9e2f-2a9db560a138 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:3dc0d317-fe34-450f-96c8-c61fb6af7d28 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:c7d2c170-fe04-4053-86f2-2ab3af1a5c62 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:e59c9134-43fb-4d5d-9b93-3e97e85dc0fa phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:1ef7af24-2fca-4718-975b-4d642f48c376 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:c24597a8-a893-4130-832c-3158e895439f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:d046df01-41f5-456b-b60b-466a551c25e2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:42a5bafe-e567-4700-b742-50c73af8077f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5bab1942-b0d4-466d-8cdd-d6beeb718be1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:834abbee-d0df-495a-b26a-245d090759ad phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:438ed008-11a5-4169-90b2-fad7bdf0bb10 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:619e871e-52f8-48a4-b40b-f325c154072b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:d44026bf-59db-47e2-93b4-6b159f71e12a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7e902737-d28f-415e-b844-d1f4b2a400e0 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b621f4e2-7bb6-417d-92f8-14506acb9ee2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:1efbf25b-5ce6-4f00-af6f-f299a93b70bb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:65dcc033-e665-4689-a3cc-df64097967fb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:fd720e5e-b645-4c06-bd5c-9fa6b771d856 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:8770adf0-5cbe-4c8c-a01f-77dfb1a5e017 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:e79cb292-2a4f-4b13-b8f7-807a365a25dd phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:65dbbfff-07a1-492c-9a45-4624ef0760b2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9fdf6c7a-638a-45ad-8592-a12b3e7925d8 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:669c9603-c7de-4f62-9613-d2acb7dee5d3 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:48ffcff0-f7e5-4d7a-b629-872e0a6f1026 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:664a70d5-1e37-4d21-b241-fbdbdbb9e669 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b111591d-6221-4896-b33a-4e2c8ed8e785 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:cd011376-e678-4e76-b3cb-6c98d02e28fa phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:78913786-8ade-4a42-87a9-52eeb261f605 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:b62356af-c1e8-467f-82b0-330cef45add9 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:0d96ccca-83fb-49a9-bcc6-5137ca4c64c0 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:f2b7622c-7a2b-4d44-b1c7-3a18d074ca50 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:3c08527d-8a06-4cf2-9882-b089d2f2557c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:8103fe46-5174-43ac-afd2-9e174b6f3d8a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:8bcb54a6-5d4c-4fe0-a124-42786e268b86 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:37012c79-e60d-4e0e-a10f-1ad593b310cb phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:3a9c88c7-8f9e-4d67-8387-094fe5085dee phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:f630043b-30fd-453b-a996-54a4f4fc12b8 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:37bc6252-c6aa-43bc-a8c0-fc22a20c4f88 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:a44fa10a-3bf6-4395-ada5-b3d2ea497118 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:076777b9-fd8a-4a4e-a906-4f801ba880d5 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33350388 uuid:df7bd87f-c979-4e5d-b63c-f01455f66a7e phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:bad6967a-ae23-4ab4-9ad0-1a9dd13b1ce2 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:3167a6a1-d737-45fd-82c2-79ed3c8e4c6f phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:0495ca34-8de7-47ec-a29b-73630f814ea8 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:abbce71a-ad39-479d-a453-1bf5fa842449 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:2f728863-d147-4aa2-aa0f-b705d19da97a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:80563e16-93da-4aab-a750-2ebb955e273a phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:cb496167-0a35-4c4d-9ad8-ab2181906859 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:da4beae6-36da-472d-a8bb-382bbbf10e00 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:9c9e9f11-a320-41b9-bb5f-be1b13237d6b phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:95598017-4349-4346-a157-3fdcc6097e7c phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:6177f1c8-50c5-4a7c-afb4-32ebe8067779 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7a198c76-c3f9-4e91-a99a-691b296f47af phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:afed38f5-f5cc-4389-accd-11e9a108edc1 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:203dada5-6e38-4cd4-94d1-a8666def0d48 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:760016d1-cd40-497e-af81-0ffe627e4560 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4a9180fe-3ad2-4af7-aaac-9ad96f4d2647 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:5307b324-95c3-4b7b-9ae4-c87d62c7a9ac phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:7aaf5288-4dc3-4676-a58b-ecb542ad94f6 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33350388 uuid:4c6bfef8-3b00-4443-993c-ac1a23862274 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_disease OMIM:620820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:f97e13d9-1006-4e25-9c52-922dc6f4b275 phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:has_gene HGNC:9886 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33350388 uuid:7d7a542d-6053-45be-b6c1-52da5acf5ef3 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7186f708-5b8f-4a3a-9497-5e0798bfc25e phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2e3bac71-117d-4a9b-8f77-1514dc4953ee phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3917e4cd-5264-4c98-9c60-67d613b2a6d9 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d5141a23-1b3a-4eeb-a66b-fa43eb5cb262 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3bb5d802-e95f-46f0-ac97-856bfa47e0cb phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a66af38b-5ba9-489f-9a9a-8ca21601444f phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4061ac7f-dd2c-4700-ad11-84a956162b01 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e47cc8c0-aa1e-4073-b3fd-ecf93ac14325 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:00e4c1fa-becf-4902-8712-634ef2b41d53 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:07cd956a-d86b-4b04-ac19-a145cab0822f phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fe64d4c0-c54d-4d3b-9f61-03db85f6212a phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4ee3c964-45c0-4352-9e88-60c67ce0cbf5 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a4da8daa-0f57-4a05-9366-e3eb8f1c77d4 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:681c3a72-bedd-46df-a1b1-5aaefc42a390 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:500a2c6f-af2d-45d6-8a81-f1aada87aa58 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d2541e8a-23f0-4cf6-99c1-d6b1ac95b1e3 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f4bbdeeb-13cd-4a07-b42b-8c31fe6db402 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a7abead4-10c9-4551-b610-212d03a43a06 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9ef6b40-a6c7-48bc-b77a-f0ad234c8ebb phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1496feb3-b4f6-4e87-b207-837a0ec3847c phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:59e96c07-fb9c-4a5d-a08a-4db7ee40df09 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4498672a-faef-413c-9670-9854c6d5bf46 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bdac5f43-9261-436d-bf2e-5c6547902703 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bbcc7b71-3c76-4f1b-bda5-2ec20b655d71 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:310c590f-a517-4221-b864-77316b2a4ed2 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7c77e3e0-f9b3-41a6-8b51-d9cfea99dc6d phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dc8857fa-ecde-4f47-b403-e497dfb8da08 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e8274a57-a7a2-49b4-ab6a-eb8e9474726d phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6a99539d-7d43-4ac7-b86d-feab6b751fc0 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b3ab41fa-0ca6-4359-9888-865ebe0703a7 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:afa4935f-1779-418d-b42e-d74fb0009fa6 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1f647055-7941-4933-babb-f94d7fd1bc89 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d35c754a-ef72-4edb-b5df-b108a1649bce phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:018737e8-7afb-415d-b28d-eb975f7a6944 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:86ef36f7-8d38-4a57-a3a0-284b90f3c71f phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:20152641-95b4-42f0-b9b2-bb98ddc6e976 phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0dd95002-1364-44c8-bf9c-4d0dca6ea3bf phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:62489c61-2eb3-45c6-8709-debe1b41815b phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ed475b45-40e6-47a9-bd48-3068dbf39e85 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5f378d3a-4ffe-4485-8560-fbe3d96d8723 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5c04007c-93c8-4592-baac-f90d2a8f10cd phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0f5d7bc8-133e-4776-8fb7-42c9d458d648 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:039f24b3-9e4c-44e1-8697-e0c55e48cd3d phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0cc5e6fa-f969-4fe4-9531-d0d038b76bf9 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b153f148-f94d-44e1-a19b-b0aac881cab2 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3e33d572-0cfd-47c3-bd37-1404e057f0b6 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:94e2285c-7eab-4280-a0dc-dfc8b7b7b2d2 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e517ed40-724a-4c36-918b-661e027f79cf phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d807a837-e9ec-4031-add9-b128a561911b phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fbc72b98-7017-4dc9-b640-824161541265 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:940553f0-107b-4df2-8ae5-a54a0f848137 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0df627ce-dc04-406a-a540-b14966112f5c phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e52dac1f-8e58-40fb-9a70-8ec001c42a1a phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:19fd08c3-dd56-408b-a858-c77e5a37aee6 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3704fb16-66b1-4edb-b950-8dbbd68e7bbd phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8f84478a-b145-4134-8007-fd4b1629bc32 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f548fd0b-db57-4bb8-878d-180f98132146 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:94e25b13-b041-48fe-bb7d-77c0d1f03406 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a4746108-e0f1-462e-956d-1882fb91b538 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d089446d-063e-4d6c-bbbf-0fdacfe1c4b2 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:10140ff3-4db9-4b65-8120-0a98dc0ade25 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fd289a07-0507-4c40-9cfd-a9e286f3e7c8 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:019067e6-4db8-478e-a796-dfa92da29ee8 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bf03e5e5-e83c-452e-8226-a1e91d005c19 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:716d8b15-8e84-48c5-bb9c-3f4412ebadb1 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:00cef76a-3ee5-41e9-afb7-1fd226aacb70 phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:68dbad82-66b5-4827-a5fe-47eccd9315ff phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:2bb826f8-3548-4fc6-9fa5-aed087bda0dc phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ec9ae994-65db-4b19-a5d5-7a1691a0d237 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:29ada697-9fb1-49aa-b85a-7b54bace1507 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f81c2329-807b-4485-892b-8d94fe5dcc04 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2237ec25-711d-46b4-b7f0-5966402f6dd3 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9c562e12-7742-4148-80f6-fa82cfa2f088 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:623d8bc9-03ac-4e32-a093-026dbda1f074 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5b736b3d-abb8-4490-aa97-4cda6871660d phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3bc1ebf8-f4f1-42c2-bef1-b632cfd35ed0 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:da6a759f-ad84-425c-a85a-05d077a96efe phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:78fa1f34-f095-47a3-be67-1456cae2db12 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:45b9a12a-1916-4b85-a0d4-45e9aaab2b41 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d14f77ec-e77b-4a5c-a6db-ff2a8d253916 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5da3ae5e-2153-4617-bcf2-322eda3117d4 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:362d71c3-380a-49ba-9c95-e61ac9e337e0 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f97c8147-dc9b-4d12-891d-63eb02a30da9 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:87eddaef-9fbf-46d3-8b8d-dcee81155bee phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:40d68d76-aab3-4025-aee1-d20f7f15639e phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:42f2af5b-cde9-4dbf-bd07-18cd7f1409f3 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3cb3f496-f7df-4273-b34a-30a9961005d4 phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2c7fcaef-8841-4d64-ab1d-21cba8d18f8a phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:9560d66f-9fd8-4e64-bf45-41a5e930b97b phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:e4160929-1bfb-4fb6-9e52-a0a7189a55a2 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0ff47c73-9fcc-4f4d-862e-c2aac48931be phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d25611e9-3c03-4882-b83c-c28931f22cae phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:59ad430c-fde9-4d6c-894f-9a9c9bb9c059 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6e48b6a1-5a59-4e55-ace6-3943859d2e9a phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:14b6e6b4-9c7b-4846-a5ca-43f90a9bbd41 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:597d2228-0402-489e-b22e-d01b70080149 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8fe41425-1dc4-4f7a-87f6-a9cdfb67d7eb phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ea578e6b-9f47-487f-8725-f26c12cde13a phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:431d1252-1a6c-45d7-af02-0c20ba605d3f phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:042e98fc-1203-4a09-aac5-62eb2c08e1e6 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:460ff635-602e-43cf-baf3-09c7c5138fe5 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b8d2a4d-cc49-4d0b-a5f1-96d22e6b5d0c phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b949e6e-a345-49f3-97d7-eba5e2b7d6fc phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41d40ee3-17d8-42f0-be03-4ea1d9056a44 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5ffeb154-cdbc-4947-8caf-ef38ea1cbead phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0621678d-26e5-43b6-920b-d6ad394777b4 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:59a117b8-a4d7-4151-bfa7-9e16472fa34a phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:733c01fe-9895-4a11-86b8-b1afbe74fb6d phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:06af8da9-b9de-4aed-acb2-fd12d033f716 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a6742c87-0f81-4695-8f69-47de786f58cc phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4c6ab658-85c5-4a75-aa2a-dec9a0b6d78b phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2764a5cc-e145-4d01-83d3-6214c15b0f25 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d106fb33-9cf7-4fb0-8929-d6700d598e2c phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:93ce34c5-ac5d-463a-bb7b-a7c1f0f57e0b phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:00f0b9fc-aa35-44d0-a9e3-0144048f6644 phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:077352bb-03fb-4f03-a7e1-3e515e122b3e phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1628bc32-113b-4db0-a363-0cd235e381ff phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:23ebf228-9dc6-4530-9358-eafd68a4a70e phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8b66533f-9733-4e17-9f25-1ce73398683a phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:76199d00-d123-4e69-a57e-3d2bc998211b phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e27357a1-eae5-4e42-8517-f79e7b1d2ee2 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fbbd7666-3334-4951-9805-931963179a7a phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e54bd0bb-ae4c-420f-9fe5-6c0fa35fd619 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aa8efcf3-8d9b-453d-8af8-15d08ffb1c32 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f531b9f1-22b5-43cd-9f5b-1372a5d78001 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c666694f-2846-4610-bd5c-20d33346d208 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:78b4b3f4-254c-4c21-b325-ed351135ed10 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aac3fa78-c9b9-4473-946a-85b69e5927f8 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6bed0177-15a1-4695-9b58-6a7b145afec4 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b0460f1a-c90e-4047-ae29-7a5029e85bfa phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:26856d5d-23d3-4db8-ab6d-774e49bcc7cc phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6f2e06ca-e42d-416c-94f3-84460ed1e052 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3db90783-22fc-4e88-96d8-d26f3eb0da76 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9667fe62-39bb-46d1-b540-a7fd131206c9 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6ca3b9fc-67da-48ba-8df1-ae4d04022cbb phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:83f6da62-5780-49e4-96fd-7949ff35c6df phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fca303e1-6cad-45ad-ba61-73a232005482 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3001a47e-147d-447f-9662-758d8b156050 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ce94f79b-69fc-4afd-93d9-215c6a7dfd25 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:27b3d4a5-cca6-470d-a710-8433bc3fb92a phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7750c060-4900-4a6c-8736-b4273a1925d2 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:336b5d19-12e4-4f3d-8806-3fdbbf0619a8 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f8ae0651-53b1-47c8-9904-949bef5eb5c5 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6d8e4702-2213-4863-89aa-75d2ce6df828 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:993bbbcf-fe2a-405f-8620-507c585aa65f phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6a2bfbb7-cf57-4ac6-a193-281dbe9058f9 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b5fdfbe3-4835-4d3b-a955-29c45440b10e phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:45402bad-82de-4eb0-9a59-898f8ae2b5dd phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e3e27200-4494-4fbb-9a19-ec623ae537c3 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6a945514-e23e-4cca-aba0-7db384cbf856 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9f0f4596-958b-4b3a-89fc-a602a57f603e phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:90a9cff7-2159-463b-bd99-1f62f8103ebe phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:54b660fe-a560-4f7d-b29b-c943fce6d274 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d6c5794a-0161-46c1-b57c-de283d86ef13 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9d6dc016-f8a9-48fd-8e4d-208c857aaf67 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:9d54cbcf-d00d-450d-9565-cdb65ff23105 phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:991e7a5e-55fe-4bfe-9457-a6d476f81e2a phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ed0d858-24c4-48a5-bb67-e18b251373d2 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:42111def-bd82-417f-a2e8-c1c3b47b7063 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1b9e738c-148b-4aca-8fb9-3c11a2503316 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d2e2e841-050c-4301-beec-830b6fce9824 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e609de43-a883-48c2-a872-3dcf72ffa853 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9ebd2dfa-bb3b-4b49-9184-329bd7f06789 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ae81f392-ac17-4a79-b4f4-5f1a60441f68 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:954e42b3-d94a-4b45-97ea-73f105d2b3ec phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:18d23222-28db-480b-beae-1a8832fc8e12 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:22e98994-aad4-4367-989e-3948d49a474a phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a0f4446f-53db-4730-998d-79139bd4c179 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4527ee1e-d9d6-4a7a-9c0a-9abbc476d466 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5460174f-0f68-4230-91c7-f2edd60ef9ea phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:abe2fcde-31b2-4084-a3b1-66dbab3587d9 phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dd61eddb-2807-41a9-9738-cddaa0ed71db phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:84ae5b4c-4a18-41fa-8842-67e27f1d717d phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:c22444cc-189b-4aa1-9c8f-8f8eedb2bd6d phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:41cbc17a-f146-496a-a85f-b44840802491 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:27ccfb7c-5070-4961-a9f8-b02bd19d1d70 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b128b641-e25b-4bcb-b1f4-39cd6e316690 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:37ea9a66-212d-4531-a3ad-000df8c60848 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ec045150-69ee-4c86-b78d-85c264712ca7 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:33fa1b99-1bec-4615-b660-65129e7b12e3 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1f050ec4-6ab9-4d7e-bb0e-4b70b0bbeb00 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:59689050-b801-4303-af8b-7733b358b3ee phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:42a4cba7-8452-47b3-9559-3220c252f2fe phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9138f340-99b0-45af-9fdc-4457ca1ebd5b phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d806552b-6a9e-4173-a413-9a7e50e14c35 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:48c6d14b-370f-4390-a62b-67334901419c phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:018b9148-0d6b-4e5f-9115-9e9dad76d90a phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:be471f82-0231-4381-a5ff-746172404203 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:26a0cb46-6d06-45cb-8d09-426f4066c960 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8044135a-6c94-42fc-913e-2885f3eda58c phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:498f6537-b521-4371-b592-ebfb9df2dff5 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d323c205-dbed-4458-915a-4880fd1bf7c5 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e4392668-ed29-4730-bbdc-728e4c601d60 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:74ab89d4-98b1-46b9-bcad-3e27b828179e phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2c2827ee-8867-4a79-8f3d-21005da6e861 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:09a4084a-fcc3-4f78-8294-58a894550037 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:14a25014-0588-4645-83c7-37c657fd2ec5 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:165d1844-91d8-4d4d-95f6-2dfe3fad0881 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:766149b2-318e-4cbf-9763-f256e20ffc05 phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c0f50c31-6170-4c0a-b64d-12782429d2bf phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:bfa2956e-fc1d-4f3c-9628-955bcd5c1f8d phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:2eb5dfd0-d76d-4652-9980-0eb36b91edfc phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:85acc619-fa84-4cfa-80e6-efd210fa4ad5 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:272e7f1a-4a0d-4609-9a29-59e0b581c35d phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5bfeb065-bba1-43b8-920d-16904033d304 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f115e813-ff8c-4c05-97d2-94d9e0881fed phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c684c8f6-7d33-411c-90fe-30326416e433 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ab2ceb8d-8b40-469e-9d02-4c0e94468d73 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7fb7c083-f931-4285-8ead-5157a3a641f1 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:656b9ca2-1779-44fd-8f15-b773ed9cacc7 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8b821a10-deb0-4f35-957c-7ae6e5f5b20a phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e3352473-6cef-4534-a59e-4d2023562719 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a1b82727-5306-4658-90ee-e77183f468ba phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5a5448bd-b3d9-44f0-b93d-c79b1472d32f phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9a30e959-5a16-464a-8af5-88751086e76a phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5bc64bb4-ee17-40fc-b693-1c8acf86d319 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:74842ac3-a187-46d0-bc24-a0f65512a4a3 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6319fac2-d309-45eb-943e-623a9c93b762 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:aaa630a4-9bb8-44c9-ba3b-eea289b490fc phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c08cc00a-93ad-4152-af4c-0e91b0871c03 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4743fdd2-b717-4abf-ba9f-6d2276f36123 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1b497443-a043-4094-83db-d6bcf831fdfc phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f2be6207-1435-4b88-8174-f607415da172 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8e1a6913-9b21-4009-a3fb-a19ebf716234 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5a63a49c-1d15-4889-9d33-b7262f2c1659 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c98b29bf-6b35-45a5-9e5c-394fbf2e5835 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6267a44c-b998-40fb-a0f9-03a99652631a phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:67d4b742-d6e9-457e-98d9-3690d02afea6 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:635bce1c-8f64-4d0d-a018-0cadb0b40341 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1793540c-8d72-4b5b-9264-becdebfdccb1 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:10f95dad-759d-4f9e-a13d-4c1ff063a0df phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:fae1d216-26a8-46a4-8c11-a4d3f8e17144 phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:4c73e6eb-7f5f-4b7e-b30c-9a2f39ba0c33 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d0fce6f0-4a32-409f-bdfc-9ebe61f175fc phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3eaf7672-7856-47e8-a743-cb48c126691a phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:452e6447-7a35-453d-9808-a737e9d29b6e phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3862c51a-5ebd-4604-be1f-68e70ba49e8d phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bd539c88-a87e-4279-969b-6c9d5e6e4503 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7a59bdb0-d160-4437-a614-85f49a1d6702 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5b86b26e-ecdc-4110-8bbd-5821e12f8deb phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5799d986-cbad-4ae6-94f5-3dc674b4d379 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1933de40-1feb-47b0-b5b7-9471b446c67d phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c2068928-1a78-4a9b-8d31-52d3a6c9d245 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7197ae87-9436-4c4a-8c76-5b0049a8d7f9 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:566cc747-bc62-46f3-aa06-c53baedc9761 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3501f8f0-05c0-4873-84de-4bef1d42b683 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9a9c8a30-1d9a-4d3f-be94-b1e567ef70cb phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:31a44a1b-f05f-4a29-b7ee-859f02638abe phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f9479351-9cb3-4112-bc60-c521edd96def phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9319d9e3-f103-42b5-9524-f499b6b77cd0 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:de161d4c-4e0f-4ed7-b48d-62e74a32f454 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8095389d-0dd6-4163-af6e-f1543fa98e57 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7e1fbbf4-1baa-4b55-af9f-f570352df55a phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1c14ba14-fcd6-41bb-a550-967688b01906 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:24522775-8987-45cb-b9d0-5d613b417d59 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f5048367-96d8-4abb-9755-fe7fe6a7b10f phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2c76bb18-a258-41e3-820e-4a6992c306f4 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c595499e-0fce-4352-bb38-3ed2537fae7c phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e1a8398a-aefa-4db7-8bba-b87d0f81e483 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb289b39-2e07-4708-b78a-eb4c60fe9590 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c37e102b-9bc0-4015-bbb8-49175679bd54 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:60d1a222-0edd-40e9-b5f9-815261745e96 phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:e6e1f05e-0e97-45c6-8350-bc232a57b59b phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:99116032-f818-498c-9ced-06fa7eda766a phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:acce9d89-b6c4-43f1-9e48-4129cf325ec3 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5f5995f9-1512-47c7-9a5f-4d9db7f13619 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fd6c031d-4ee2-40c7-a450-c3efa29ea2a0 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:35a9a435-16b0-4fd5-813d-8cbd2b12201e phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dc370d40-9518-4dcb-8a23-c9f5fbfb5d76 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:07bd1452-d520-4a2e-bcba-353383f555a8 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:958ea8ec-5234-42e2-8b15-5e5c3e797e4f phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7fc945f8-438f-4c4c-8c17-9a419a2bb4d8 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:237c984d-9ab5-4aab-aa19-66c02191e260 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0dbc2124-9698-4d80-9787-bbccc50d9e22 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e26bee73-fc52-4e2e-a0af-0832fedcca3e phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4603660f-19bb-492f-8328-ac160e20181f phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f563d033-32ed-44a4-bed0-425b9e9df0f7 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:479d6143-4284-467f-8caa-1d06f78e7caa phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cd92537f-63bd-4266-9651-dbc675c4622a phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:13bbf1c1-73fc-40d3-b106-70820c9a3990 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:838c1c3e-bf38-4687-83fd-40daf218c775 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2b548af0-c900-4a9c-a9f9-28a330fb18b6 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:919ad8f4-bf17-492a-9464-a2d83aceb530 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:646983e1-cd9d-4d22-a382-cbe5c998501e phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:779d6975-75f0-4963-aa94-36e7c2a983aa phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8f79ee08-8c00-4a2e-85e3-5af8477c9e6d phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:64244939-9a1a-4b09-8c7c-f91fe433938a phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6a0c4f97-e3bb-44b5-90b6-8e32256b60bc phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:41fc3563-b020-4622-b8fa-3278199ecda9 phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ff68d504-cbf6-4c06-bce0-4dd62c01c67f phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:80e17617-e36d-4938-a50b-e51569d895eb phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8a6be854-0212-4fed-8e41-a6b83c665dd7 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:094138e7-1869-415f-9d72-a50b9132f334 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:780e84c1-83e4-45a4-a11a-ffd2b94143f6 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:94f92ecf-e676-4292-99e0-e6f6d65b38d9 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:24778944-75a9-4ac6-9497-a6d513fe8383 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bfa0935c-dadb-4f12-aff7-b677d7bd1a5c phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d51d5edb-dc4e-409d-89dc-cd49a6170f6e phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7e247e9f-9303-48f7-9386-d8a4bde6397b phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:04746f6c-6a41-480e-97bd-1db908e67685 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:208f8a29-97ce-4ac8-91cc-27b7c89712b0 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e7b11b97-e51e-44f8-ba7c-fe92899d8a1e phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:12f4ade1-ef5b-4689-b2dd-41d47155b7bd phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d7aaa2ea-aac3-4827-92e5-12feb7f84436 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:455246ad-f79f-4c7e-98d6-3b2f66288c0a phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb1f4afd-09ce-4e89-abab-8c8d389fbbec phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9645accd-b28c-4efb-a4ac-6d98d50fb614 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:421e5f81-e337-49d1-be9d-2cfc42be9aae phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:86773425-3bda-46d6-b54f-4445716abf5d phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a2b22fd6-b22b-479b-958c-9eca49e22204 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8a28099c-c3f9-4ce7-9e27-72403fe996f2 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:883eaf9b-5d81-4467-9390-e7c9697039f9 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5860bd52-3a22-4cc5-8c51-bb385f8edb72 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a9353721-687d-4684-904b-473e077c7dea phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:686d9445-463b-41e4-841d-4d12539ce5a9 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:5cad5aac-1fd8-4476-b4df-2326ce9f6872 phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:1c458466-2946-4f87-afaf-0f9435e7bac4 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:88ea56b9-d4cb-4580-8e69-14640ebd4a2b phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:28c0487c-7aa6-4d6b-8c42-d9de2738df00 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:90387c35-1da2-41c6-be48-147f1fd9927c phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7cfcf469-3cbf-4e02-8c8b-13cff04584ed phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:889be63b-3a4e-482d-9390-dd131ad58345 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ab378d2b-8a90-475e-a9d3-4f89f65253e0 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1e65a8ee-9f91-4377-9015-c676cc060c93 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2bfe4ba7-0f5c-4ff7-bb66-1614d7df1eaf phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:12d02868-cdbf-4238-9f9b-cd9fd5705a57 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3555db53-4ffe-46df-af80-b14dcaeb9b16 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b49803e6-98c7-4876-9262-eb52ef311794 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:51a89986-a2df-47bd-a2ea-ab7cc72d27c5 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:44856f51-9676-4418-98ed-0b2af2f51643 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e5365962-a8ef-4ecc-9107-a36da3e6dd87 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:55cc2f8b-bafd-4487-9aa9-2073cf40337b phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d453fccc-d58e-4c69-bd3d-2a17391ba6a3 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:23702744-ea03-447e-8e6e-6dd24011a9ad phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d4c539ca-276e-46f5-ba5d-f4f3d0de5b06 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bc1d2243-1f65-48ad-a49d-7ceafa40cf56 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb973e53-6e9a-4e48-aa23-4a971e9d6a59 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9a8167b-855b-4f6c-a159-80ff73ddb559 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fe9d3d70-b96e-4452-bc56-dce0bb41959b phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:095a652d-8532-47bb-9981-27a0665bf58f phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:56479661-9dbd-44df-a983-cf08b0e93731 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bc3e9f4f-9181-4ff7-ac36-5d04be0fa341 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b63c55af-358d-4005-b5e1-4fadf387ae98 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:700083ca-7885-490e-bfa4-28fcce9f6153 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1cba2dab-0cd1-4eb1-aedd-da99436e3df2 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ae9c0e0e-ff58-4de9-a964-f2021960e282 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9dc7790b-99f3-40a8-bff6-278fee8db32a phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:56c61afc-1eac-4cab-9e03-fa9553982080 phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:1f912c62-2ca2-44ef-bc7d-cbb3b1b27d74 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bbfdc1d1-c5c5-419e-bd55-09cabb59df04 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:55039f23-edfb-43c3-b456-2473688e4827 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6ab7429c-f6c2-424e-8a69-dd8abe33c1a9 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9213a805-4982-4843-9690-dde920d69d16 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a97db979-d531-4dd5-874a-61c17dd0b6be phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:086ad13f-e6f5-4b79-9685-a6d7c2c70103 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2aec5411-4428-412e-ac95-ab50b2435957 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:979bd57f-d932-4cb1-9653-dfd599932a97 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b8c8b1ee-dcca-4dbd-ab4a-d4360af049ad phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e2cfcada-cacd-4711-938e-7e98b3798e3b phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:148055dc-7c95-4c4d-9765-24e99430e4ca phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d620bb78-97d0-4497-aef1-b45d6ab9e7a2 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c7b42a9e-6631-47a5-a51d-e12a08a6ee23 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fe4a5d5e-b65a-42d1-8173-e6966ac054bf phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0e4bd807-d3f8-4570-a183-d506b374fa88 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7f965b76-fab7-469e-83c9-a5d7e86b99c4 phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:bd81ac6e-ceb7-4ea0-bbe2-a21b992e6246 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1629f9ab-f6cb-4cf0-9cec-07316d22b60b phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:188c54ce-5cd0-42cf-936e-db205d33a939 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:602f5025-b34b-4adf-9ee7-54aa6ab35830 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:382d740f-f0c9-4cce-ad2a-f590d96ac9e1 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a01f803f-ca98-4a8c-b8f4-f4ed59f9d3cc phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:08ee9c09-540f-4a03-9d56-959c39877829 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0daf65b2-eb4e-4d5e-aae9-ba222f03cc8f phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0100327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c3a6305d-ea37-42f4-82d2-bf1de036b3fc phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aafd0ad4-56e0-4447-b5e9-24c7b94087f2 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:245b39fd-9cfa-468d-98fb-926906b66a0f phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bb7a020a-d796-440a-909e-9bf56ee9a424 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:04168405-1a69-4db4-8dfe-bf661becb26b phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:126fe254-c6fd-4e30-a0c1-dc4d7ac159d0 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c1a5f4e0-9ceb-41ae-a72c-0b4663db4c3b phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:854ca637-f3ff-4e2b-9d76-9a88b11b920b phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8bcaeeb4-07ba-4b23-a668-fabb4cd1b961 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b0241505-7ee6-465f-af27-1d4c53d14195 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4d2ef96a-4d28-471a-8310-91e91fec8940 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0cb14464-4bb8-4c51-96f7-19ee69ed3bb9 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1f572b5d-74d4-487d-8d39-d8539f26e910 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2ce7da27-7c2f-4b3e-b7ad-3e6f03335610 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:92c75431-17a4-437d-9f3d-dfc48a09ff8c phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:37f35f57-a697-4d42-a3b6-58f2496ce4e5 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:24074e2e-1bc2-4dfa-a0e1-3377ee3688b7 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e8ed007d-8076-4027-bfaa-a959a5144a67 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b7ec8b4-c99c-4d56-8332-57e532f7be88 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:71ccc4da-dcd8-4713-8092-18d5b7ca0d2d phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:f0d1c919-6380-4c40-9027-a45143cfc569 phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:968321c0-5549-4103-b711-717d9f9c3d37 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fbb6c5a0-e733-4876-a247-dc1dbec5bd93 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:28420527-5c9b-45b7-b6d5-d2a1365849fc phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:17845659-1f5c-4292-9265-317b2c924d22 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:954a8672-3981-4e07-991a-01b4f575add4 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7caf59bd-a24b-4ef2-803e-806c0e8207c1 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3a7da2e4-e1de-4acd-b92d-8eb68f797e66 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1d4227fc-56ef-497f-8af6-e53008fedc76 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:77003f60-f9ba-4e02-8b36-36c348c0f814 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3e2c8d67-097c-419b-95d1-f06ed7a297f5 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:149c0df8-6d57-4fd0-8147-14c94a0e1fcc phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3b31637f-b4f1-44f1-95ea-b12478394e80 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:354d5543-cc5e-4d6c-a41d-c8c92cfc06e4 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a8533618-88ad-4102-bc9f-8dab3a3741cc phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9e2075bf-91c3-4746-a6c0-0f8c4ded41e8 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0f4f9769-90f2-4fc3-aaad-57a0ab13c89a phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3138345c-33ea-4a9e-981b-7c8757895f91 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a801eafa-84e8-4735-804b-0c0aa63a72d8 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5eed7085-bc57-469d-b215-e669143e0845 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5c275e29-fad4-4064-ae6e-3d944b9bfd18 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5d9e4f8d-a7bf-4dbb-afe2-2e46a746a975 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:07bbc4b4-d86b-4f1d-bc8e-4c5285b2f859 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:26210a12-d6db-42c6-933f-caf7ec06f6b9 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:064cbf34-5278-4b8f-a2bf-9b64839cac9c phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f71e429b-5be0-4888-85b5-28c3d8085ea8 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:61e927b5-c8d2-44b8-aa5f-4d7e0aaae3b0 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0d2764d6-2dd0-46c8-9ccc-2bed208e9792 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2a64cfa0-2b87-4e69-80e6-ba4f683b0916 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:11aa7426-822a-40ad-b586-e794ea2c004d phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:01fe6aec-98f8-40a3-b708-07c054c0e066 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5ad105da-8018-4df7-929f-34785ce227d7 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9c23eb3f-4d5a-4aae-8c6a-fb072e8c3d0f phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:407adb64-c569-41b9-894d-1ff8efacbab8 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:97e68bc2-6e5d-4c88-ab56-4734c64ac85f phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:b0cfb440-6421-4fbe-b89e-e5af15f38f07 phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:05d00bc9-56f2-4e6f-9d95-47ecb046482e phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3ea420ad-8d3a-46f5-85da-2eb1ab84002b phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:814570b8-ee6a-4166-aa0c-01dd44c102e0 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eb2085b4-c1e5-4090-a973-8d3a68326ddd phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:afd9676f-f31c-49e9-97f3-6ffe85e61079 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:16effb66-c8b2-4042-9489-4c558c65ae04 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f8019e7e-9e16-4719-ac05-e2c3dcdf7f21 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0cc4b828-1dd3-4f63-a596-e6a3c29ca0fe phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5927f51a-cdb6-4a76-9571-d94fb0bff7d3 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:15cd4a97-afb5-49be-ad50-90a6821713b4 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0ace50b1-5f9f-4019-8266-78e18373896f phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6baf07c6-a40d-4485-a8d8-2c957e0b7880 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3263b6da-d797-43f0-b576-bbcf63fa3047 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:352c9e38-6bd8-41b3-925a-bc723b587194 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:faa0501a-1898-41da-8684-6d4c4022044a phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0efde33f-270b-43e5-9f43-364abdc75f80 phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:5ec6fe47-7ee4-4430-9699-54bda3e8b36c phenopacket.store:KDM6A.PMID_33674768_Patient_49_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b6093c8b-a0b6-4f29-b85e-b1d960ad55d6 phenopacket.store:KDM6A.PMID_33674768_Patient_49_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:63f2ec6e-ca5a-4cea-88b0-c78bc7ab26e4 phenopacket.store:KDM6A.PMID_33674768_Patient_49_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:503de00a-788f-4824-881c-5c46ad3dc530 phenopacket.store:KDM6A.PMID_33674768_Patient_49_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:01117c25-c5fd-4fe2-a3df-123099288bf1 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7afd422f-8094-4369-b453-35bd9c2322ed phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:58bcb0a2-90d0-4990-8bcf-2081103bcb52 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eb85a07d-24e0-4391-b454-ab183394e9f1 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2ed3ee7b-897c-477a-925f-10da7622aad4 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b36ffcd5-d2dc-434b-9b5c-2e09de7165fb phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7adca09c-773a-4718-8988-9fe18e8cbc3a phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0030434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e5f25d7a-9672-4bd3-96e4-5b832884ed32 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bb72aa39-5a4c-4f4d-a998-1cc1a5b68cee phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:791abdd0-38a6-4658-8107-2dc5d16598f6 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2f75b257-1f50-4756-b352-5888c559c941 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f0a6ffe4-bd57-4264-9ec0-5dce880711ce phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3a058cdc-90ce-4f1d-9971-b097362eb6ac phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b17b938a-1480-4b51-b0a5-1f1428587dab phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:586980aa-0b76-4b53-bb7d-3d1dfba3103a phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2222aa8d-a4ac-40ac-8522-8de8566d3103 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:420b031d-c223-4d8b-bbcf-eeee67b150d7 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5a2c208f-e275-4c06-bff7-bfd66be77728 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:52e96906-aaeb-4c6d-ac25-e434a82a2dd8 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8a0e646e-e866-4e57-9d1e-93c31291f3d8 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dbef5f33-4e3d-41c6-9858-0d3ab531ab58 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7713e7ac-f874-4326-91a9-a9dcb603b065 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:792e2311-6b37-4d4f-b6c1-c4eb202e93b8 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:a22b4bf7-e3b9-401a-bb44-9395bc4936f4 phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:36108b91-b622-4782-ad10-6e5e33950af8 phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f2731da6-cf80-42ae-a267-169ceb741ff7 phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2ce4c29d-88f8-4fc1-9789-ab30e886db0b phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dafd68d3-97fb-448e-bd18-0bd27575d8de phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2558d714-224c-42d1-b7d0-6e8dfe77b4e8 phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:86d19c74-27bf-4f65-b8ea-cae648ee0cd4 phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:032246fc-3c27-4218-8fe7-fb37ff711fc4 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4405ab1d-80e8-4d71-95c8-9c1cffce3284 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9c069de0-7cd2-4848-8f15-d70270e0cefd phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1079737b-bb66-494d-959a-26b539b973d5 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:09992185-1def-4b97-9094-a25772b13996 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8fcb6bb2-c81d-4e2d-bea5-8de018525f2f phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c07b1299-97e5-47f8-8c8e-4c51ecfd30ea phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:353dc946-78b9-4df0-8121-cb00ed0edb0a phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fc7398eb-564f-4b66-81e3-3e89cff4dfb7 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ca6b9dba-0ee8-4004-bbcf-b891ff995010 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1ff9e3f9-92d2-4303-92d5-c74946ffe678 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5228a514-a633-4e26-936b-8b579ea822f6 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c95b1f45-aa22-47b1-814d-d5fb27afacb2 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c5c22364-dd6c-4998-80aa-f21fea46d0f6 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d7ccf689-a259-4064-b2c9-e4d4d3cdb44b phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b42854d4-6b6f-4b35-aa7b-192c4931c91e phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:44f8acb0-c88a-4ae3-a116-95667c8d59da phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7583f1c4-0aab-4a61-8963-aef2f24c4f80 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:09e249a1-1a70-496b-93ff-12e85d90dd61 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e81b90e7-ed51-43ad-a61b-353575943f6e phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2a55d412-631f-4949-80e7-246b3ddd1b55 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9c0fc1df-9acb-4308-a06f-88636ba08d8a phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6f41f7d5-dbfc-4a8a-b2b4-6a3a2be584c5 phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:c5a2c115-5ba1-49d5-ac1e-6a716ed747cb phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ab4db376-ae06-46ae-864b-a6edb83d458a phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3d16eb43-14dc-4620-b65d-f993e48d18b3 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e5dbc205-2b3a-4977-a579-64fa9e769736 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:14dc2822-d1a6-45c8-b1ac-444bbee29b11 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4971b643-4ae2-4a86-a82b-0a727c97954f phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d3a58c9a-21ee-46f0-8ebc-5088215710ad phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0d1a72b2-161e-47cd-a200-b64e91fe44ac phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d4a443e0-932c-40e4-ae29-1ac4383fab87 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c7c23bd3-0810-4a6a-aa68-4a57110574d1 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5e433f44-7bbc-4ad5-b0e5-8396110891a0 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8fadd35e-3b0e-44a8-8542-d35752773e3f phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5895dd39-8f26-4865-b28f-e1609cc4af69 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:e7381daf-0cce-4dde-8bad-406c9dd9e1b2 phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:1264128b-4c36-483a-b4b7-95fa38b89355 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:75655568-c19e-4257-94b8-bec88e5bddbc phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:67c3176a-5b06-4fb6-8de8-99ed02bd2792 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:792fec34-5994-4f58-abe8-901c7d9d930a phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bebffe29-6df2-4a1e-9497-bfbb546c5ddc phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6cf14c9d-c094-4a5b-99d2-9409a67be998 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f029a99e-abf4-43ea-bf40-69d148c59b05 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bc31ef35-1f88-4fc0-bd40-cf88dbd57340 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:867daf87-5a88-49b5-980c-c5ace6930f31 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:84ec80ed-8c01-40b2-801b-1c51c70c40d4 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a32aa0b7-0c54-4489-b88c-994ffcaf45ea phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c448edee-0548-4f5f-b464-5c92e6a10aa8 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2843dffe-ddcd-4bbd-9bc6-2e199621a568 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ac5437d2-2b11-45f8-b0a2-a8a80a430b65 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ccc7d5bf-68c7-4cee-af49-028bd07a9c75 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d36e2f11-5419-425d-aa1c-880744548cf9 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ca98c31a-7f30-4545-9b8a-c3b6a87fce9d phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c47b8405-283c-454b-b311-71299f01693e phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:be31d12f-0644-42f7-86dc-a534515f338d phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:de403a41-3822-48a5-83ae-6e82783fa91f phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:dd04edf6-5055-47b9-a13c-d048049e5a78 phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:4dd3cddc-1f25-483b-ad50-23946160d73c phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3c82a2c3-c19e-49ec-90bf-ab2478b79b3d phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:de0a61f1-2ae8-4da0-9b9c-19e35435d076 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6c455916-48ac-4ab3-b55d-d112560a72c9 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3b7bfcdc-5cbc-4041-9719-6495f0b5e22f phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fda5d6a9-64d7-4aa1-8d89-1fea1ccabf0a phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a6a7762d-afbb-4d49-8a03-6e5fd2992884 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a1a72ecd-ac98-4057-b7cf-ecebfbf6c169 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2ffa47aa-4b3a-492a-8540-49c76c9c2417 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:36b8a527-55a8-4675-9380-1830ec9c5735 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9d55af61-608c-4350-b01b-636c7e9a2dac phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:69607aff-6f81-48a0-9f29-dca570956096 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d05af6af-e4ed-42f4-ad26-851b14b6ca7f phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:97064507-9277-4bac-b1a9-d1770d5bd665 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cc181482-8cc8-47b1-b18e-9659072c7e32 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8c8de22b-0b55-4562-817a-74af1b38c093 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:472fddaa-56df-4216-9896-dded417ed1d4 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c8afad96-ab82-445d-a2e7-f07b9d540f4a phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b6800788-533d-4cd9-9014-f9f40fa486f7 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f7486c40-f46d-4441-87ac-96390c665c39 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ac79f2d2-ad4f-4019-873c-e2d7d0fae98e phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c7258c79-38ad-482b-8df5-fe45e2ceba03 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a5f545a2-555c-4c69-ac82-a6c120c2d08c phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fb723a5b-f107-4b93-8525-19dbf84ef8f5 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:369bde08-c528-4b73-81a6-8e74343c102c phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:82443168-c5f3-4af7-ab1a-f1a2d475a9b3 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:118a316c-c3d6-412e-8a9f-bdd6dc332b71 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:69b2eed3-2eb8-4bd7-ba0f-29e11f144c19 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e1571cc8-2058-4e29-89d5-29fdf153d516 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:3176dd75-9e3c-45f1-96e0-57e4b503a700 phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:af940840-33b7-4b75-bf3a-835648ab7cff phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d0211a3e-f338-4c44-94a4-f0713349b35d phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bc50230d-65e3-4450-9bf0-11ceffaffc39 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:52ce9be5-a0df-46b5-b04b-b30c63d8deee phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1d5f43fb-b29c-4f9f-a4d0-0c1fadc3d2f1 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d7946ebf-f5b6-420d-b209-8ab3585f3cb4 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d3bc68a8-a78e-486e-9348-02a00b31f1a9 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dbe568bf-4c50-4f83-af7e-4f8b9c49fad8 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3902ee82-9a3f-460a-a746-798da931f54d phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0a7fa654-72e3-4e7a-91c8-20a017729ee5 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:226b1bea-0c12-42b7-ae8a-0e0fc56903a1 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7580e301-7d8a-4b57-8609-8e337c02e018 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2478c817-bb1d-49b7-aef8-d826a3689b19 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:64734fc3-0d25-4127-ac3a-64a7a07fa5ba phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:52a114aa-5119-48a2-92e1-ba5c5b4ec3bf phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:284c935c-a328-4cc5-9a8f-d0feb66eb460 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e6344dfb-6ba6-4672-afd0-3a9902bd441b phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8fcf8e44-cf7f-4300-8439-4be1b66d8b7a phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9032f1d1-730b-4685-a7d4-35e6ab4dcf4b phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0b290de8-2bc3-4633-b259-9a65a8e2977f phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9d844c89-54d9-4ec9-9982-c2eb91f96266 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f5344ded-de6a-4d73-a6f9-65958b820526 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:08689c67-71e6-4980-9136-674aa3e14916 phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:eb775d49-a093-4bff-ab68-97a9ea168824 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a38881b8-73bd-441d-b246-60f01aaa7524 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9703f6ec-d134-4578-9c6d-23b587ffff8c phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f1d45092-6337-4727-a941-b112a648dc81 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b610cecb-4ed9-42d9-a782-33b54975f87b phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8267d41e-0c70-4b38-a8b2-74bf5f53a9bf phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:83ad5087-90bc-463e-aa3a-ea47f828c367 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ae5b6c5-0800-4da1-887a-ff9b4cf3264b phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e781f94c-57a4-4930-b997-3c6906a5fbda phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a443af47-6b13-4c85-9aa4-79954bcf3306 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:739742de-022d-4e36-8487-d46008d46126 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ae18c74f-cdc3-4c75-99b3-4a0dce3ff9fb phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:294b3001-3b35-460a-a00d-bfc829e503fe phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4d42868a-eb3e-4ef7-af49-5f14dcf818e2 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1cc3168c-83e0-43da-a3f5-992b9427901b phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8c6b4372-06a9-4ba8-bb03-82af84022401 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a1548bc1-d526-41c0-8447-33982c29e141 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:52e6ac10-ba94-42b2-9d30-27ae9dc098ce phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fc6329d8-4b29-4dd9-9512-4dadfd2f8407 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c4869253-b04e-4cb5-908a-82b6cd55bfbe phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:269c2386-f9b5-4283-bdf6-fc5c923ec805 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:53ad3cfb-14ba-4d58-b211-611dafb09d5d phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dd4d3e2e-972c-42a7-a976-e1f3543afba1 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:468bc4d9-1bcb-40ed-a62d-2cd1a9dcf616 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ae7db94e-d17e-4376-83ac-2cb000f9ed90 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d06473c5-cb12-4e7b-b1e6-cb737ef30961 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d505e09b-3ca1-4074-b37f-155d56a41b27 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b6d95db5-7f8a-46d9-9b2b-e8d0520fe12d phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3750dc09-869e-4b6f-8afe-44162829a202 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:cdcb153d-8fc1-4aa8-acdd-89dec0ae3693 phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:bf3666c6-938c-404e-88b6-2b8d5466b65a phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:79ac35cb-f976-4939-af0b-8e6139236386 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bb0e2acf-067c-481a-a3fc-bdb2561fe7f9 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a593f7de-2148-4f21-b9b0-a810dbadc141 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e1e82880-cb48-415d-ba21-3127afe4f71a phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8b434cef-44bb-4775-b9b2-a46ba11ca0d4 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0134c685-c303-4294-81bd-d7c010b26169 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aca380cc-f607-4200-8397-8233b4c56bec phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a4c40ec9-668d-4981-b4ce-bb3bbdc39fed phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:85fd4262-f132-4f33-9d9d-396236814909 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:86312ebd-f402-4b74-bdb8-9af42f992fc5 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0fae5b49-8ac8-47f0-83c6-00f99862d620 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:867defc5-48fd-4ddc-9115-7005f0d77f21 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c0ccb415-9152-4a2d-a328-91aa533dc7c7 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:03d2864b-07e9-4ac7-8e73-64378ec1b6bc phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:86be1368-5a0b-4910-9b55-4549c92ba542 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:241cfc52-4d2e-495f-9d58-ba41a1137ea1 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f7f4b48a-7e5f-43a2-afa3-898c38393ecc phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:09a12340-bda4-4de4-8a37-f6425a8afd90 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8eb0e210-0e96-49d9-a907-1ea2ed9cc1cc phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4a3cc39f-c133-4de9-9352-a6be838a83b9 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f13fbf90-2685-490c-80e4-4a04dfbc776a phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b03d77d4-2d53-4bd8-ae52-e7709ac34d10 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:69311d47-eb24-40c3-991e-f1c433bc5d68 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d752d838-7f8c-476f-bba7-2236f5215ea7 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:db503caf-961a-4857-bcc4-bdc23c5f7cfb phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d2e67833-a3a4-4cf2-a0e7-fcafd8fea895 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b8707cc8-b626-497a-ab3d-187bc0707d45 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:07ec9d1a-3382-42af-8dd1-2888b6ef91aa phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:075f032a-6909-4999-b9d2-89bd3ac501b3 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0e5b613a-8832-4e38-9085-b7db277b0bfc phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:123e3754-468d-439e-8e18-b67c2faee475 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bd5ca9b7-69c2-4aba-a96d-dd6e09306bb3 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f469db57-cbeb-4262-91ec-8517f08d1e47 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:73411ce9-215f-4f15-baf8-47f238aa20e9 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cf84110c-f7ad-465d-8102-5e6df3b00489 phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7e538434-ef1d-4ae7-9b76-4235b2dcda6e phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:a8d4f9ff-c8dc-4dad-85ad-57b5a024c9c3 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ed3266ee-14ba-49d4-b421-b50b41d88b17 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ba0dacff-f2c3-47d6-9d75-5f89217a503a phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f1b5ce8e-a540-4049-a564-155b162e3c31 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bb0fb060-7749-4f56-929e-16f43d57f106 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:06ac022a-d12d-4127-a96f-6805f8e343b1 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0000771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5d0544f6-9f59-41f8-b404-a010916c2a10 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:56f2d643-4ad6-4f15-84ef-82b15155c3bc phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c10d6c73-2ef6-48bf-bfb4-7e9815f83597 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0215fccb-e5d9-433c-a508-a665d7f948a3 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:59bf3a3d-8afe-43f3-a449-6ebefd9b1f6d phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:09cb201b-7b94-47a9-ad1a-60986e067eb7 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9a16b28-d74e-4d17-9554-f76bb82d1fcf phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d8429da6-d8c5-4eec-92bb-daf3597f2efc phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fd9feefe-d5e2-45c2-9247-e51614dae217 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ec884814-6688-461e-a86f-4bf9d5fbc673 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c6d6455d-3428-4e9e-bc8e-ea442c01b286 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:028ada23-c86f-4722-af38-8ee10952f18a phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:82906ed3-0f61-47e2-8b03-97f33edd6c64 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d5f0bf31-e7cc-4df6-8080-8123b06f4e77 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d1021521-321b-48ed-9477-9378055ce81a phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:3241b309-72b5-4304-b6d6-28f3b1df96d8 phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:fe4f7eb0-f450-4e53-bd50-a094b13eb45c phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cd58dac9-b3d8-4bae-aa76-4bf63852ad55 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:febc67d4-6152-4c74-b71b-4f7aa0f98628 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:51c9e2dc-0b5d-4c33-9aac-be97873eed2c phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:782f8086-7dd4-4a14-aac8-1090170ab525 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6d0b26d2-8271-4525-873c-a71f6580fc00 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5d645bbd-fee5-4dac-9017-a39f4c61a620 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ea813991-de3c-4411-9485-e9a2004d288f phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:280ea5de-21e5-44a3-b10a-4f032cf9788c phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f914d3a9-659a-4730-a6e3-1f6251325306 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d1620880-0144-4b3e-8a99-41d7015b8a01 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:86662339-c2c4-44d4-a46f-e1cd66d1607e phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:888e54df-30e5-4f28-8df0-a19c39071b84 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f8ec5302-d6af-429c-9aab-232c7f1c9d31 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:16b1b3a2-4879-4a1c-91bd-8f75bb260dd4 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0dc1ee02-be80-4728-910f-f844805eeb0f phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:02dcd5b1-3d05-40d5-8521-386f81900fce phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:240d4dc7-b339-4d15-b4db-d9507b6911aa phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1e159800-b1ca-4f2b-85a3-3cef08bb6543 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:97822cc0-8d91-426b-911e-cce81a404977 phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0a8cd28e-7404-42ca-9b45-a013f717d1c0 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:834fb4e6-9a3c-4a9e-a7c4-696e01319a8f phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:94531874-2439-49e8-bb54-a254ece80ef5 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cff7764e-331d-4683-bec1-20ba350aa930 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0c3daf5b-617e-4cb2-924e-a44abcff5656 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:26d1b6c7-b1cd-485e-a4b0-8e9debdb83e6 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:24a278c3-5eae-489e-b5bd-a49be48dcb8d phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:38ffe8e0-6878-45a9-9a7e-c2c059974231 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:83d92682-2012-4af3-98ee-b50f8078b4eb phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c613e47b-7254-4a73-8e88-8bd4516ee315 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:43d2d66c-59e9-4482-8bfe-3325d3ff5d9d phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7e09bef9-9726-4f2f-94f8-4ffa2bee55b7 phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:9f970760-c33d-4b3b-b7ee-ef532845c22e phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9939319b-7d38-4610-859f-d0fc8299b7e7 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4e0ee2c0-cad8-46e0-be0f-e449f22eccd0 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:073bdb1a-f76e-446c-bc8b-a6869c327a77 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d94aab61-aa47-4777-919c-d3585f627307 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:520d5090-dc81-4ef3-8c3f-ff098c44c4dd phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1050c113-70c7-48ca-8e27-d9c0597ad3a8 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:df99979a-5f5c-4214-988f-a123be8482b9 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:91ee5093-23a7-465e-a13e-3d6ada41bdb6 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:74d59a58-8064-46b6-a2a4-3ce019d2a65f phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:17bb1bc4-7d05-462d-af08-f5de462ce56a phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c196e7ae-b7ef-40be-886f-ec6ec20a9767 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c78263fe-7062-4acd-9460-adc206e82314 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb00121d-991c-48c3-add1-25c3453f09e3 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d4222977-1750-4777-9152-4add92e5fabf phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0e771302-778d-48e3-9daf-7c08ff8525e5 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:22ba70bf-9ea2-4d9a-99e7-556db19f4358 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:477efffb-2385-416f-a953-6011df2d48d0 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dc60304f-b890-4975-b606-fc48a5b1e9b8 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0c6fca5d-616f-48a0-a66b-e4be07079368 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d94192d8-5250-4fd8-b92e-3e8c613b34bb phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cbec607d-8535-4cdb-bd47-07eb6171e088 phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:cafc2b54-7a62-4612-8da5-39e09ac3a5ae phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:3f807979-f5e4-429c-945d-0768d54ec7c8 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d3b11476-e125-453f-8c82-f711d1835337 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:237629c4-71a6-4118-b977-d0328f792528 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ca088374-5408-400a-a650-576450b58195 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cf3ba6de-700c-42fb-bbd8-2b437446e262 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b8cb5376-ffca-462b-8bff-dfcc053621b6 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b6170800-b29b-459f-adf5-edc433efdd69 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ebfefb42-a2d7-4647-96ee-314c6e22ea31 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5886cfa4-b419-485d-bf5d-60b5d18608c6 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3cb238cc-8bcc-4fb3-a9ad-9e97c57cb788 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c69d1954-2755-47ee-8e20-f2a3506083ab phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:25058482-aeb6-4801-b74e-166ec6438d86 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b007bf1a-90ec-4740-9c9a-c7a957d98fd6 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e7440103-c822-4fa7-9824-1398a569e489 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bb30bef5-ae82-4b63-98ff-b2d276fff444 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f56bf956-a9b5-444a-b0bd-3a411254a3b3 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:859ed0c6-3a9d-458c-bbdc-ac7ded4bb327 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:07fc68c9-3b67-4056-8541-4f1a09fef5c9 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9dbf38fd-d932-43c8-8dac-a6abb4b39eb6 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f8f13dd3-cf84-4292-a8d5-ab5c98ed5e05 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7f6fee41-23cc-45ce-8960-060d1b472a65 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cd543b37-60ab-4174-bc52-67576cc7d506 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f7e00205-ef11-47f0-95d4-26910125e713 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:569eb9c6-e985-4bf7-a227-a74b92a765fe phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9dca638d-ca00-4fbe-989b-7ea18010a3da phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f81afd3e-6806-4b10-8e1b-efd13e2bf273 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:661b6d80-c608-49cb-b926-30aac5389116 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7c8f3aea-3444-4ba0-97be-c6c65b8fed77 phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:3d330826-0b48-413f-9d14-027e25bf5c51 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:58ddd1b6-bec1-4a04-9ff9-bec08f7bdf72 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d737a23b-9055-4295-9043-d47c9bee6964 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4f4e9c2a-d4e3-454b-8099-bf4121ab6f1a phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a4c6c4c6-6c0c-4792-b9f0-4126d05dd483 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7078b5c0-17cd-432a-abe6-fd5eaa5999c1 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0c2b9f16-47bc-4890-aedb-2c46adc1d9d8 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cc9e6ab9-a1bf-416c-aef4-5e70d8220d86 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:17bbce31-27c3-42c7-9c31-5c4deb675d20 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f3bb497e-f2cd-4ba7-b6f9-6890c30ba3d6 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8490a4c5-1755-4e84-a74f-4cdb98f98fb5 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6e2a047a-0554-4db3-9a10-19c748a30813 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b34f95c8-9153-40c6-9a4f-8dba3a5f1b81 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4c510139-0945-40dc-81d1-6cc1c44d9b19 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a93b9a8a-e418-44af-9895-4241db012714 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a57c3159-88bb-4e80-8dde-9abc2ee827df phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:60ce0983-fad4-4062-a0d9-5d36355100d9 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:47c37183-438b-44b3-ba60-bd704a5acb07 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb892a31-2e04-4d4f-8558-88018fe0a426 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7d2d2c4a-3476-480e-9fd2-1dbabbbe7eba phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0df95de4-1755-461c-ac12-7474341cdca8 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0580e1cc-a3c8-4581-9f7e-641b99c034bf phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ff2cbd91-e95f-45f8-93cd-29ab57998fe0 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f0d843b0-8d2d-4c3d-a47a-5863a920b2b6 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:45e46529-3b6d-4393-958c-66cf6fd49612 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f3987efa-f872-4144-9a70-116548484fd4 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d8e2829c-c122-40b7-99eb-f2d04872a374 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5e424c51-6d7a-4d51-ab1d-32b3c2c4331b phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:495bd60e-cf5b-4fcc-973f-3fc3df87eeab phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ec9f64bf-1bf8-4b6c-8c36-327d0012c390 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5d90bd66-65db-4ad5-822c-1b085cf78108 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eceed0ea-6707-4500-8851-d09d8decfea1 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0b4381c7-427a-430e-b280-1bf2a52b2ee9 phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:5b2b4250-4388-40f0-b74c-391bc33b0aca phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a85e2bb3-470b-437e-9715-afa28a09e1cc phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4c408564-66dd-406c-818c-fae8224619df phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:045f93db-793c-4ad1-8883-c36b1ec860f5 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4f2c0c2d-7a0f-422e-bd85-0659a2c73e4a phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b19fd2b1-623f-44da-b9e6-6d458987165c phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:03f58fc1-8d93-49cd-b6ed-52aae9f8849d phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0ebeb175-b013-4e88-8226-fe08fa0af385 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:531851c4-6c2d-42f8-a8f2-e2a02c110c42 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8fa8ee25-d19e-403c-a4a2-8373d53cf836 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ca007f5-141c-4042-b6bb-9481addf494d phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:811a8bdd-f1d5-4d61-bb92-44adfe5b86f4 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:74f485e6-35c7-4a98-b708-0f0af787df11 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1eb2d6e3-0efe-45de-b946-831fdb149a64 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:28a519b3-443f-49c4-a36b-f86d29f604a6 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:adc9c714-555e-4b58-b9da-b9c58d0e0483 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:97bee63e-09b8-4caa-8734-3e37d5a985ec phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1eb58006-b377-4468-b7ce-f2608072ff11 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:74bfb615-c665-4cae-a1a4-5c60e595aa5f phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e62b9412-3b98-4249-9d58-7d558cf38ad2 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f49d8433-6ff8-4a53-8162-52a34a1f02cd phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a6f87b73-cecc-4402-8406-d5524ebdfbf3 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b0139635-5a71-4950-9cb0-e03e893f3cb4 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2bdaed67-cf41-40af-95e1-a439c387c8ed phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8989c3a9-b837-4c24-a32e-8d9f1eccc589 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0383c7b7-6775-4a05-a4de-1abb366bd735 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b0936f7-3463-4e03-a526-64107ef7b29b phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0c633d6f-c9b9-4117-a00e-43279446d02b phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ccd9e9ba-09fd-4d11-a07a-08f2f148ffdc phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f5038742-33de-4b23-b767-cb4378dbb963 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4470d067-c6bb-48f9-9a2b-1cf13e4adc83 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f406285a-4216-4f75-99c4-1e0563821e6d phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a33ab3ba-dd7e-46aa-9fca-514c06af7dbd phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:267fec90-209c-45c6-be6e-b436d831b000 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bbc758f8-847d-40ec-918b-2c37dfb51169 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6c01946b-ac2f-4662-a470-2cc52767a080 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:fd6ecb56-6e1b-46e6-b628-69703f1b7cc9 phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7f9c719a-9a23-4202-9e46-1854fbc7d006 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9899b2d6-62bc-4b5f-a49b-38cdb531b795 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ff389321-1d1b-4f5e-beb6-19de549bda5f phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dd38257a-7b85-424f-8699-655c4c4fe862 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:77317b0f-81a9-4073-ac90-2ac5fb510b4e phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:31369f8a-8d59-4618-9f6c-7e108df3b527 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:62a28df7-d312-4bad-9672-e2c877405e05 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:01056d72-494e-4788-a0eb-f1c680b88d4f phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b14e10c4-f2bf-44fc-a5c8-764063ee181d phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6195f860-645d-45bf-ae9a-d96a7c81bd6d phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:32cca6d2-d051-4e4b-a3fe-7a9a2791ef93 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9f9d0c12-6eae-4e6a-add7-1c0862cdbb40 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6389f936-f1ad-42b9-8b91-87946697cb18 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0054e601-bf71-4b74-aba4-2d01c7b21652 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:274c5c86-11dd-412e-a129-08f27cf5c0a6 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:48452de6-3deb-4619-ab27-2f7f771472ab phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b32ba8e2-5ebf-4816-b3bd-9c481d9463d5 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3cb656b4-0d43-475b-9118-376efbe463f0 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ab5c9333-3968-463b-be63-3c7894238c53 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b3b32a0e-de5b-415f-b66e-0d7b0c19460d phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:88267424-0d38-4c61-9910-88501a02f117 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1f17b5af-f582-4274-8d0a-b401ac52918b phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:69a3cb0a-62f0-4087-8beb-27f7ab9c16f7 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6b5e1573-d889-4c43-abc0-07e331e7d50b phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f8cb6ea6-4462-49e0-8e09-78bacc8deab8 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0e8047cc-53cd-4c05-85e0-4c00c929fa7f phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d001a755-0dd2-4b82-9eb6-8e33c4927db6 phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c4fd26ac-81fc-44d7-8bf9-f4cc7b5666ac phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fe0fcebf-4c4a-4ac5-bfbb-b05dff8593ce phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7b9c7e7e-cd3c-4120-95cc-5ebc319103fc phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0e8075ac-ea1c-4e7d-a94c-c014fa41954f phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8a135e36-ea75-447f-996c-75a6819ef3ea phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c89eef71-7763-4cb5-bae4-9d0f645ad9a4 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:64698bd2-98d4-4959-bb40-7b64681efa0b phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7008d4bc-cd40-492e-b4ce-fed2145c8ea3 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:12674966-d302-4341-b083-8c57b443c47d phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:63e75eda-d1df-4f08-91ab-d925314ed8e2 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0db198ee-f747-46cd-9e65-7694d489e905 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6ee1c30a-f5be-4de1-8ae0-86519605cd03 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3de8863b-4c18-42db-8494-a877e85d2536 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d1112eee-75ab-4fd9-a5d1-032f71431aca phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6bd89e67-a76a-49c8-89d4-22962403975c phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:65630195-e1c1-4bb5-bf27-ac0c389aacc6 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:32cc6488-8bda-4007-9302-b3305be8e972 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6a4c41e0-37b0-4797-a8e9-b0c2721eba4e phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:434a7b9b-2e16-4504-921a-d29c096d43b2 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:95a372c5-cb67-4456-bd0b-69e78096d344 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:16f37de1-144c-4718-8fde-afb81c177f4d phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7f83784d-39f6-4572-a0e6-08e075641b4b phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fbbadb6f-7faf-476b-bdf9-9988a40acf57 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:24224bab-8e30-4faa-9fa1-ff3b8721e753 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fcac5bf4-4bd2-4f11-a81d-321beca51504 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ef331766-d627-4191-b5bf-2ded520e9a89 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ccb6a388-02c1-414f-bd5a-e0b2f6ec9403 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a518c5ba-71be-4074-be05-d4a01e761e56 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:233af344-bcac-47b9-a363-0f9dd48e194b phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b96a9f37-20b6-4aa3-8d13-a151f071d4f6 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:83d7da80-f8fa-4deb-89ad-5c04cc3271ed phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:659eeb6e-5578-4ab2-98b7-0c54ddca2167 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4f057009-85d2-4a31-94c5-85601337dbfe phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5cab2325-e799-4c02-97e9-0e88ba7c4235 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a678b78c-7496-4c67-9797-15841dc43b84 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:02b42bf5-e01a-42ee-a18d-557ae807c0cc phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4f924e60-a989-4e15-9821-c7ed7505125b phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b2fab222-d3b1-496a-9a46-bc1db3c099ef phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3c1faaa9-7bd8-4a5d-93ad-3f4bb85b14a0 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:463f9df2-b2aa-4fd5-8561-326aaa85de7b phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dd7f5155-58a6-4949-840c-fee96ac7b85c phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:71c67b82-f1af-4b6d-af7a-6102d6bacf46 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d1744bce-f447-43bd-960e-30d9f5f4f1c2 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0d87a40f-f931-40fe-aee9-46aa1dec1609 phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:37df903e-05e9-48b6-8c4b-eb9ec2b0b708 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4a80b31c-ca5e-41b5-aee8-ea2da79530b9 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4fe48b59-147d-4e22-badc-c7b4e7ca9f4b phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bbccf22f-330a-4816-9225-6e0d3f6652b9 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c2bcd98f-dc6c-4dbf-bd36-3387a1c8a463 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f8bc3f56-f86d-42ba-a32e-44ff5b2a9636 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:674bb003-e1ab-43a5-ab22-da878c502cf7 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9b2da557-ecdb-4d8a-a873-acc3cbe758de phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ebf10a93-f09a-4ecf-af57-242729e4ab84 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:89a63d97-3585-4f07-a594-ba670a7f25a1 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:55ae75ba-79b2-4ec9-80e1-4bc0ee7565bb phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:597acb8f-5dd5-4506-9b8b-2d1a5a6205b4 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e12de98b-791b-47ef-bb07-634eb0821fdd phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:189b7bbe-224b-4de2-8953-6fb3644a36ff phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:188a7858-785f-4576-adf5-ecff8900b387 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a045c7d1-5903-4865-aefd-815efde54913 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a48c14f3-17ff-4761-8010-5b458ee0212c phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:90e7f1e0-295a-4848-a748-9f09af91497f phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:57685bd0-e174-4f4d-8a94-f3915160a403 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3f804a26-7fe6-4c80-b702-d700947ea470 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:16e9346a-e50b-4e93-980d-42a668f06e88 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:55b7b7d7-d99e-4d1b-ba6d-87927135e757 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d5008ae0-db0c-49b7-860f-a8f3450123a5 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d6373a08-918d-43aa-9f2d-e5eee7bcb95c phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1040fbc1-eee8-4e78-be53-716b76250543 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8d81945c-ba4e-45e5-8077-eac28963cc4e phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ce08b6d5-84c7-4bf7-8032-433c6a4d12fa phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:079ac7f4-2b39-4b93-8e64-921705a8a3c5 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c3a9eab6-ea3c-4294-9dca-f2cb0bc0357e phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1a117d9b-3d26-4ed3-a480-c353993b9745 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:50d89f08-f20f-4fab-bb9c-b99139b4f347 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5f58c678-7c3f-4542-bcd6-562e06220a1b phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:98618b47-4e1a-4e27-9285-8694c4119dc7 phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:696fae93-deba-44e2-8ff3-ca32c0bbac5d phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:07844815-4e59-4bb3-baa4-eebf3bb42c9b phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2358e5a5-d60d-404b-957f-1acdba2d47a4 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1b7a3451-3c58-4e79-83bc-447b8c5aa33f phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9d923cd2-54ab-4b7a-948d-652c9f9f269e phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9dbe4aa0-a68f-4a51-b2b8-7268407678f6 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:07a36e62-a352-4380-9e43-5a8307d00acf phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e8924358-4621-41fa-b552-343fa8b83591 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:17b2a1f4-c296-4445-a868-c60260e0fc84 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:adf733f6-a7f6-4227-bdb4-9c20142b32cf phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c903f6dc-b4cf-4ada-9ca0-e86bf3651b25 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:01556520-1ee7-4e7b-8eb7-5967c9b954f2 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:783715c0-c38c-448c-9174-a9158b899817 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:70096442-2c83-424c-a15d-e3a06589b83b phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6cae81ab-5db2-4f75-b8dd-90790f0c321e phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9364c050-4a7f-4990-91bc-de62a30733e5 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:23436090-c74c-4a18-b61c-4a31e89a23ee phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fe1336d4-f48c-4052-a2e2-6d5630faa9aa phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:43e3f1a5-4fff-4659-8275-8238c7cc5cef phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:cc4d3071-de00-4997-9220-55815253cbb4 phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:2dc1fdf7-c384-44af-a9e1-99ab0095e667 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8da76dea-fa5f-4936-bcc0-38d4d78b61fd phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7add299f-d0b5-4542-aaba-e92e8bdfa3a3 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e4ce31e9-2a0c-4b50-a3a3-b3e5f3ac5c55 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e1d933c8-f309-4d44-93da-67bca1764487 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:becfce15-fed7-46f8-a18f-864b7be21abf phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dfa089a3-25f5-4664-81cf-f06f8465e9e7 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:36a18bf4-25ae-4c1e-993e-45accca5ca15 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:53a67186-f27c-4406-abe2-84e476cd34a3 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0fc54084-d1e1-4677-9451-4098bc21e7d1 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:163d6f39-f5cc-4f9c-8ab4-aa0bda74a590 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:598d61b2-fe05-4ad3-b77d-f5defb943a2c phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:28cbb150-b36c-4b52-8804-dcec492c79e5 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:41efec88-7d05-4c14-8d4a-8dc6dae9d2fc phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fbb11bbf-9467-476a-829b-336763724710 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e3b5b1aa-9e36-4e14-a19f-61e2144b0f21 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dbfe9d8e-12f9-4472-9eb5-95b65521facf phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:53c5f31d-f449-4d75-beb5-5cf2db0c992c phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:46438f1c-50b7-4da1-af5d-0df037487603 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bdb1fcb9-fbec-4ae1-b178-18cf529993fb phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cb7c685f-807c-417a-9474-cfae90a3481d phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:419506dc-2716-4dd5-9bba-b30c6950421d phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7827c890-fdfc-4457-b700-a2696d80a14c phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5e3d0d3d-67a5-4ac1-b39a-c1c3874547ab phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:62ddd473-cd45-42de-89f7-429f83554766 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d184dbc0-67de-468c-bb3a-90324c410186 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8fcd01a3-2108-4d8b-ac47-9424cdfead02 phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:d9a9045f-9237-4cc6-abd6-f062788afa29 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:30b05340-5c0a-44bf-9da3-38ec3b7bef6f phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:638bf2b9-74af-4928-8f91-2022a3fe8db7 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f238926c-1382-42e7-8772-8a573a97ec01 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3b135edf-4b9d-4125-bbb7-14cc20a3a9bc phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c261ebfc-06b9-4c2f-8262-396cbcd3148a phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cd9ea7f8-1340-4be7-a3fc-c0604f4de1b7 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cbe048dc-36c0-414f-8b05-1b708e776230 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ccf7f91b-fd52-4c27-a42c-36252cbfaa63 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1482036d-78f3-44ca-b471-92fdb9808027 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9be9ca7a-0b9b-42f9-95d5-996792eea532 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f8feff5e-1b15-4750-88fd-f05c95638a2d phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e4ddf1b7-352c-4eb5-9861-a874168c54be phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d2b76fe6-57d1-49c3-8a85-efc18c366f99 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:588d90d1-7b16-4a00-800e-6734979585af phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4ee6c303-0787-4f9c-93c7-6069f229c74e phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:95542ccf-ec90-472c-ad3a-2718fe279c23 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:160490cc-8fdd-463b-aa86-d005ba3bec14 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:26805003-952a-45d5-bf31-00fd55cad3c9 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dc6f2d5f-37a0-4726-8868-829609e819ff phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3fea3964-7c06-434a-ab45-c98606f0816c phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:23399049-5daf-426d-8f4b-4c5b1b9468c8 phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:71aeb092-d386-475f-908c-203e277d2e00 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6fe74298-2ebc-4845-abd2-1e9d44f9f66f phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:158609f9-87fd-4896-b08d-2a348cd17b55 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9c60d686-2474-48f6-acb1-dc7a6fa69a63 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bf657ea8-9177-45ec-a4f0-579207e0eab6 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:02b118b9-2626-4a06-af7f-a7be61e94e77 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f07a9ef5-9865-4d07-9569-94a8d84a9fde phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f7e2a240-e5df-424a-9396-9993f8a167d1 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:44602325-0475-4da0-9114-3861a9a6c195 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:675eba37-c9ca-4f33-b4f5-ff2afa8d276d phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8e95923f-9dfc-483b-86a8-442e4b97cf8b phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:120984ce-bc95-4ac8-b1f7-15214fba2f6c phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9becb93a-e55f-421e-9d6f-5e94fb0a3664 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e4fdc13b-10e5-444b-9150-c6ea59cf634f phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d4ab2e02-710b-423e-8f76-484d7f0fdd81 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7b87b610-bd80-4cef-a2a6-8b2359b0e08a phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:85de9900-42e9-4b2f-afaa-d6c0cb6bd2ec phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8d3ef248-6f90-4823-9c18-460d9d49a870 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5a904cb8-5dd2-432b-8ef9-99708d70a56a phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d91140bf-3a99-4141-a2ea-4cced48fc235 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:613aeaf3-f8ed-4da2-9d7b-8005b462bf59 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0393ac01-8441-4049-925e-0c2c350aa416 phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:efb433d0-50db-4161-b3cc-72158549149a phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7a49191e-cb72-4715-ad36-555bd8ac9d3f phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:14343a84-3b78-4c58-80be-4b0b5cdc3c9c phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3705ef9f-842f-42d7-bba2-6042bfb204a8 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0f4eca24-98b8-4eda-ba9c-9f71f7a709f6 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:115efa1b-6941-43d9-93ff-70c6c10caace phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fcc972aa-994f-469e-9ba7-53481cc1cb7f phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ba6b560c-ffc3-4319-9c2c-876430626ae1 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:110b37cd-a14d-453f-8fd2-00a80a8e9e5b phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7947fbbe-14f6-4cdf-a2c0-b7d97cb05b2f phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f0e3ef65-e29a-43ff-a638-3a21343a5a93 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a9e1d3a0-c5f4-4bdf-ac94-3719cff527ec phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1ed82678-0d1b-4743-af8c-f9e334eab376 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ab884ba-cce3-40d6-9064-a3a3a74aec45 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:753447a3-ab0c-4897-8fc3-c3e7f880463c phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a615735f-2876-4a69-a4dc-4aa13d7d0598 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c081761e-3c80-461b-bdeb-738c58e2f641 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:788fa278-d597-4119-81e7-768c610ff058 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e9b980d9-0570-4ccd-85a8-6b897ae13ea8 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:710a18d1-3122-4174-ae3a-40168307680c phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a6116374-471e-4e50-9420-c5f6ee6cb776 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:31567a5a-6b79-4074-8b98-17d754397075 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:33a66df0-6172-4cc3-8afb-428ccf306fdd phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1f317d4a-3b93-4b80-9400-24f72f09a31a phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4f1064eb-8bc1-4e5e-9020-292f33a914e1 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3f78f91c-e914-493b-8beb-2b710a118d46 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fc9c5cc5-326c-4c5b-a5ba-c5e9b615e593 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0ebba9e5-8fa0-4ea8-b601-da82f801d473 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:756d60ad-eae2-49fd-9b31-d1a59a0162e7 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:27b07cc9-5ffb-4ae6-873b-053bafc55efc phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a7950aeb-bd6a-4978-9492-5d71ab1b7d37 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2dc2b297-d0d9-40c6-8265-30144aa1c5c8 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1c0a4e30-2ccc-4015-9815-ca6702a5fbe8 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4a3fcab1-d525-401f-8433-d0a3ffab9ddb phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dd7081a1-1c82-4bc1-ad9f-6e631257571c phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0caf3406-2729-4702-885f-4fc230305123 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:77802e6c-ebc3-4cc0-b9e4-c7b8574a0705 phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:832aa0bc-edf5-4afc-87b7-8a914844811d phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:dab55bad-593d-42f4-bbbd-4aef9fa473fd phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d5551e87-e716-4050-b307-8e23e27ff345 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5be18829-c494-49ab-acd9-31a94e8ea877 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cc42be94-483b-4be3-a362-f0be05cbd684 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6fa600f3-61a1-4991-9bb0-c5c276abf135 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:de2bf0ef-a575-457f-a52a-5f7cdb7b6202 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:de0e88f0-9723-4a2d-a090-d40d6e0c6820 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ec1c830b-2ad4-4815-972a-d62a50575309 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0d4038cd-12e7-4a73-91c6-3953d5f2f7e7 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f32bfab8-1ec7-4152-9c88-42077bffc2c5 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d347ce9e-fa4a-4bc4-a8b8-3b32b47c90e9 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:66d91b4c-71b9-4026-9e5b-5fa25588d1dd phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d4ab0442-430d-4c79-823a-ed4287316a76 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f95f7ea5-d4e5-4c06-9079-0f3dd1fdf001 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f1b74378-0db1-4b59-832b-6ec9bb2283be phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:88807713-0e72-448d-aa66-7a2e1b855556 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8623e594-cce0-430b-95f6-17975741b0e8 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:723536ee-2b74-4eab-99fc-ef58a518fef4 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9a1600e3-0d22-437b-badd-be044eac9dd4 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:95065d02-3fbf-4521-a2f5-1444f1a8e9fd phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:053757bb-780e-4e18-a894-82e5a2265c4f phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:60b68fa0-819f-41fa-85dc-345b01d39c39 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0010743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7fd80909-e67c-4c2a-8191-05a6d957fa00 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d0176c81-e91b-43d8-b2a6-cbacd4e48b63 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a053aeed-a8ec-4908-86e1-6e8e9c29bbdd phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a9d55d6e-8a90-4053-aa4e-49cb01d795f1 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e0c34ddb-2be1-42ca-ad93-9e241f2e6b26 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:12d082b4-8438-4282-93c5-40937963841e phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:969497b9-6c0a-40f3-addf-1d6f6e48df79 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f031c74f-89b3-496f-8f2a-66ee7e0f3d70 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c65e7dd7-4fad-4617-994d-83e745529342 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:04d4b0ff-ca2b-4a24-804b-6e396c4ccc8e phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b9ec1853-1f55-4b89-915b-72e2d8653954 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:15e0082a-d991-4fe1-bf8c-2c756c98dbb9 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6466664a-5442-4ecd-83f9-22b5510dc7e4 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7ebb9786-31ca-403b-a586-022cf88b615b phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:674acbe0-7e7e-4ad4-91b5-06a22365af14 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e9204cfd-9e01-4fc9-a187-7a46b11bf040 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b4aea2b-9d61-4d4e-8566-494f39a9d805 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:507dbe47-aad8-483f-ba41-f343150f1940 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5352bd58-dad9-4caa-b0b6-2c0c9f331d96 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:abfb713d-bd64-4f9d-99b2-0e7d4bf4f560 phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7c9e8c60-f97f-4f43-aafc-0b4b39b4805f phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:719b3e1f-a09e-418c-a2bc-d7b4f38b8132 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f6bfeef6-bc6d-4abf-bf93-1ee01544a57e phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a6a2c402-c027-410a-8cc8-5c298f0e4a26 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f3845fad-6663-4533-a5e1-b8f7dde5d154 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0dab6112-9173-4343-8108-0677681337e7 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8d1ace59-fd25-473b-8a73-ada43b16ee61 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9ee52737-6956-41bd-a58b-f2ead76fadb6 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0e0b1382-6d7f-4acd-a587-aa9ae3d144e3 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ee120bb7-af50-4bdb-b9da-cb034267def6 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d540e3c1-e4d3-486d-be7c-7b03d9220c5e phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8150fe2c-e64d-4956-846e-12875933a9cc phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:91d6714d-d5aa-442a-8e3e-5a36906b6743 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cfb401cb-4e63-4605-b662-f697020ff7d6 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e188a88c-8bf6-4ee0-a536-2cd3f20f18d3 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b7e72ebc-a070-423a-9f7b-3c890e89fc4d phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7e0ab97e-e159-483d-a5cf-225abdb67b79 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ab3da327-0ac3-457f-8748-c544f55507a7 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8d9ccd54-c4a8-4cdc-a976-b35134915708 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f512de46-5045-4dc3-bbcd-87889fc90c0d phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:25be4b35-fbe9-4060-bd04-8292c46a3b58 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b9bd9d6b-2f4f-42b6-ae2f-ca56c1a54c4b phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d0823e50-8ea7-4e2a-8cfc-5acbf02aa5cc phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:57da7004-85ca-46fa-a597-4c7302ab930c phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b6546f3-6e13-487e-8998-08ac4fd07763 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a078b3f5-3803-4820-80b2-7ba95622fdef phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1a0b3a7f-9081-4441-ae89-73819e2f1468 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e5703af3-4b7b-4cd4-85bc-deed1e567812 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:b09d6d6c-40f6-4da4-b92a-3d7874273f69 phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ccd35f88-7e2b-4c6b-8af9-53e014a2c20e phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:25c560d6-b3e7-4cd1-bfc9-404507cfeb43 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ba10100d-c1a5-44e3-8e89-5192c14026a7 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:da5c1557-41cb-4be5-adb8-c80bd7115edb phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7df5db65-0d48-44d4-89e4-e7d64eec8e18 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b7a151a1-4b35-4738-b02a-b72e8b50aaa8 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ee922d20-66d8-40ed-a07e-2cd6c795aae4 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c94d768d-a953-41ab-b134-cd519a07f874 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f3fe03ff-54fd-4dfd-bf80-82a48fa9cc37 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c3ccbb49-0416-426e-afb8-54bc3ce83d23 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:78bfd3f0-7f10-4863-840a-f48914f78579 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:af089a35-323f-4391-b2e4-6a589b693486 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4dcc4641-5876-4f7b-bd99-ceed77dfd20e phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4d94fbbe-3bf3-4d5b-95f6-fa34fca8ff01 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0dbaca5f-9320-4e75-87e6-6f505612d951 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:97ffe354-b57e-4614-b75c-2a4daed8af69 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:58d42893-6049-45cd-8e1f-9f454ce3a327 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:930a52c3-062a-421d-9ea7-a47d42aaee06 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:589ce978-9cda-4d11-aad9-eb4c5b851fe1 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b48d0030-08e5-402d-a79b-10be3db4ab2e phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:70f756c5-8ffe-43fb-96a3-606d4d4243f8 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:db7e8a8d-c1bf-4ee3-8625-e6a02f81bb11 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9222a47c-e969-493f-bb97-8af292b0ef15 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d0ff8f5e-fcdb-4f40-97b4-857cdc7a51a6 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5cddb0a3-55c3-4f4d-9f16-72ce0efb1c95 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:91ade6e4-b78c-43e5-a0c6-a793514b67db phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6c682ad3-ce4e-4232-9eb3-418788f8aafd phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9557c9b-0643-4627-b3a0-0dfe9307dc41 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:68141b00-bbff-4f33-8a2f-ae6ab072ff2f phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3ae0148f-fe09-4686-9208-a1856bf50e34 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d1ab74ab-6b53-4639-b5d6-a098afe889ad phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5b97438a-2152-4f08-a9e4-66c5a6b76ae0 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:155a08ad-e3db-450d-9c6c-99eeae45e566 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:91187e67-09c2-414c-b090-a22514055159 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:454f2137-f6fa-4996-a279-f51c5f16dcf0 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9409c47-1e3f-4e41-b139-670bf9620aff phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c3128ca3-e3d4-4b8c-9bcf-3d78926b1fb4 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:079bf593-8146-4fec-a139-de3a347d8b38 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:86cafc56-4a64-4445-9886-fc42933a2858 phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:9e6e26fd-7240-4e25-ad59-d18838d07664 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:deec4a9c-9fa1-4b6d-82d2-893a80d595b5 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:964ae4c8-4b75-47af-9391-86cc847f5141 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4086af22-42e9-41d3-b4a5-44013a247e88 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c1131627-6419-415c-b6d7-a447ac71b4c5 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:737e46db-846c-4d96-9841-c58ca51dbfd9 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ae8a89d-256b-44d7-8b81-8839a1fb80ea phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ad099ae9-a253-43b3-b8c6-6b78ac3fe911 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cd964933-c06a-474c-a029-43a4a802acfd phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fffd8710-b192-4172-987d-c0c56f06a4fa phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:31e81fcb-16af-4ce4-a6e3-7825706a77de phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1dec0fb5-8cbf-4a2a-bcf8-6cd006fb86b1 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b4f4ac64-a43b-45c1-a805-26cd39199e71 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8b721345-ee15-40db-81c0-291d7922e58e phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb58e900-4dc9-44f2-b437-1f0dd68ff9a7 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:92cef705-c922-4c9a-90d3-42e1b27fd847 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:72d27959-0c49-42f3-b3b0-ba80133c4a95 phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:d517712a-e8e6-485d-8145-5855119a7da8 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7be8a6a5-d1ef-4aff-958f-99f9bd66a119 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aff4a99f-bd57-40eb-bed5-f5a202c3f9fe phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0533bf73-129e-4606-8595-6ff9984abf23 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9376ed9f-a667-45a2-bb87-232cbfef7a6b phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eacd9380-b46b-4d62-952f-4bbdc8afa7ef phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8ab64e5c-2854-4e5d-8088-9ed870ba0fec phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7dcc78da-f97d-4c76-8508-d804b9b977f1 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9c6eaded-104d-4811-833d-c0e950411e5d phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4f481107-3c8f-43a3-97e5-3ced877086ac phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:61c4579d-519d-4778-8933-a3648c33a740 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4b83d7ee-1566-481b-8c84-616b8ce40e94 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bcc377ab-e392-4e8c-bcae-feb7349ad620 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1d7687ab-dd36-4012-8bcf-fd9e170146a2 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:020e210a-da5f-4c57-9040-9844035f5298 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5008011c-21dd-4e28-82f7-c4a53eec16a3 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2bd652ac-93ba-4ada-8913-592a7649b964 phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9790be78-5d5f-41c5-869d-8fb5557eaf4a phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6b219937-f445-4de4-90fe-0d500aaa6bac phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:15603d81-1872-4bbc-9703-079cc2c0aeec phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:faa8018a-3ac0-4fb6-b687-5c9fc6227f96 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:311fd9d2-c693-4ff9-9a0b-63ae9f425b42 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:85e57915-aa6b-4884-9033-18545bdb313a phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6743fdcb-a65d-45e0-9465-175d58a4fa48 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6e472984-a430-4289-ac3b-9ae0bb044acf phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:41f07e3e-9a74-4bc3-a2e4-403bae65e22f phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:323c45f2-b458-4cf0-a032-9daef1caa4f7 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bc57e775-b02f-4cfc-9c19-d2ce5ed83044 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aeb775af-c411-4de2-bb03-ab56f3ce880b phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:981c469c-e35a-4440-bca7-d64404c679bb phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b36f4e8c-1081-4035-b0b3-2b9cc23dc941 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8e9620b7-c00a-40dc-b042-077f1a38bde8 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:94bce115-3137-4b38-ba04-d95dd4c10991 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:76dba7df-cbb7-49a5-b598-ac5df8f75652 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c63ad48d-9ec2-4f3e-8e36-bd53a73e73a8 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:62a2b19f-7b43-431a-b70d-1cea0c3fba0b phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8f983569-4be1-418e-99f2-1781909b80f6 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ce6a3f4f-2f53-44aa-83ad-f6348d6ca0f1 phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:62fbf9d7-f5d4-46cd-8d52-63fc75e57ffc phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6974a76f-2d1c-4250-8222-19b3c42a68fc phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8faf55d0-9d4e-4d72-8b52-adc8000dc6df phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0fe41d40-5c80-4cdc-afad-9d8717e2a970 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7da62027-9bc3-4b27-bd3e-9183cfd2b548 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5a7ed6da-8357-4b0d-96e4-9fbd75540b5e phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:23390b70-3601-452a-9a6c-6aad8fe02af7 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0b46010f-7407-42e3-ad52-9053a0190f98 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0010314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3a754aac-e01d-47da-ba30-f0c22d851131 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b4b022ee-9b1f-4a7b-b8e9-4c642294d24f phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eac14567-db94-45f8-8941-b9fe96523432 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fde5a049-9179-4f96-a54b-989eef08e38a phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:def0b14c-3651-43ba-898f-515b6cb39b15 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:16529cdc-4f6d-4d62-837c-6eb4b3695c4e phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cef2de1d-dfb2-4009-b537-d0e1389fad30 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3125768c-9855-4fa0-add5-5ec749c3054e phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eac494e2-7720-48e8-80f5-2362a2f2ee3e phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:80f7eb82-b3c3-480c-9966-bee301aa35d0 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0ab72761-9964-4976-8e30-8a02bb69697e phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6ad0ecc6-c16b-4096-8a14-6fe30a7bee89 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9d86c32e-9685-460e-82ae-fe5871498e01 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2fe52b2d-9001-489e-a571-44d50eaf6ae1 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7a3e0871-f8f4-4113-9486-28e9581d0983 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:aa939864-aa2a-41f1-820a-fb3a3a3b5442 phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:96be7c20-9a2a-4e44-98fa-5b5202d8a6ea phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a760d94a-5fe8-4686-96ee-6c286266d7ca phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:361377d5-1c32-4d7f-a33d-5f4483c52e9b phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8e4709e9-7300-49f0-8108-c1ab4c08251e phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7d83b0f6-0565-48e9-b44f-3fa733e3d691 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:093f4ac8-dc9f-4b67-b0ee-baa82868dfde phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f2c92501-99c3-4142-8ee7-c960709d585f phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7a440c49-ac53-4f1a-8905-83e567a496be phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c970b7fc-3e9e-4b48-b059-a0b939db0a8b phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:50f481c3-5d1f-4cc4-a741-998439e79fff phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5c62673f-337e-47a3-b35a-9c02049fb6ba phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:afc0427f-d2cb-4d3c-97dc-a3311a8b4b8a phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:86f5b65f-a3e8-4f2e-94f2-65242abc3d53 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e7d45bb3-d8cb-4ab7-81f2-ba9b976d3128 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f6156b6b-12eb-4f98-99c9-696e3fa5bceb phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:002d9e5e-84bd-4e2c-b6a6-3de5c4b3ceaf phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8e0841c3-3313-4ca0-b3bd-d98fc698d306 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3b4a5a34-74bf-4b99-b969-6a77d9591950 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:13fb8ca6-75da-48bc-8f81-c16abf10dc05 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:13627682-6c20-4f68-9aaf-af9ea94bebdc phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:550a2099-c0fb-4495-9f19-c77d38941b19 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:04b7702f-2917-4fc2-bdd1-578c9c016730 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:56d4a301-d00c-476b-8f67-fc1dd74dc5b8 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:78ca3022-9423-4788-8396-d0ee1ba0b6ed phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:23751a39-b51b-4aca-83ff-5298bc27f239 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:65de0754-4c70-4f79-8448-b7e6b2f13f53 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eb555c78-279e-4ab8-836e-293108d55ee5 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:efb6e767-9825-4fc8-aafe-7fa47fa515ab phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:495aa1a8-424d-45f9-8fa6-cfaea08cfa46 phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:4e33bd8c-a84b-4c55-8055-bf55f6b0684e phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:caed5bb4-8f93-427c-8d38-cc4b240a7c0e phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:23f2124e-be91-4d40-977d-10cceae81b88 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:87c0efdf-a20a-464d-9571-a386b82897aa phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:34f4218f-82a4-43e2-beae-5a2f015b207b phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:47155960-42fd-46d6-b4d3-23274b043d37 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:50a296e1-e6a5-4ee3-b568-94e432a929b7 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:69c07b77-8530-48e9-bd30-d64b9d74867a phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1a5e8c06-5185-4a25-ab4d-80fcf9995a33 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:457ade9c-13a7-492f-bfc4-766e557a7e5c phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6ec1951b-748c-4ea4-9e15-3ec1bfa7c9a9 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:69eb10d6-8fa2-4eed-bee7-68da850cbdff phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d534a1a6-9a48-496d-b7bc-fbe5dd8a2334 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:799cd7d6-3277-44ae-afdb-43a40ce396b9 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3e9d6c0c-50ef-4a01-8c27-16964209ca51 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0921c918-5d80-4a55-8c67-d8d9aab3ef53 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8ef98dec-852c-4694-89b0-3a24ccd39cc6 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e77c19dd-6ff9-4515-905e-79c0af26bd28 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:29db514b-0532-4ace-b13b-b4bcefb2e9b0 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:434ad30d-29b7-496c-b2d2-51e6fda5a0da phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7761d1be-3c74-4086-8436-4bf35d4d3bed phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9fd68b7-d35b-4590-9288-3573a4ec1117 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:92154f70-6a64-4ae1-9b38-09b4518a7282 phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0ee990e1-dc1d-4499-9285-64a7921b2feb phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fa71cfc2-8d40-435c-9520-21d14f483fcc phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a787daab-b583-4958-a95e-82ba00c65037 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3f5995f5-2f31-42c1-8ef3-938617c9d8ba phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:415dd3cd-4caf-4867-88c5-d6811896f74f phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:378417f2-b596-471a-87f3-934a13cecde8 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:faef5f5f-b52c-440a-b888-ffd2573d2888 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b88a4501-c5d7-45cd-aef1-791600b93328 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9eb3fba2-f059-4fc3-8391-83355bddf6cf phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1c519201-294e-4adb-8eb5-f66635fa885d phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6933e17d-b031-4c23-8b27-bd4da84072bd phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b310ccd9-77d0-45e2-beb4-51d02a4e71e1 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0e1d4e14-0be4-4ddc-b275-5d430c061ba1 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41200224-b1d0-41f8-b717-ea87cc2d747f phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1aa82556-860c-4935-9094-2471aa6c3308 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:29ffb4e6-b564-4535-b83a-11a847db6051 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:fe751486-609a-4aed-a99b-2d8fd86aaad9 phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:2fb134f6-e754-412e-bd36-d83e90a7f20e phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:46abe59f-860f-48c8-a7b7-83241f564767 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:112d1034-c096-41e6-ac40-197211c90ebd phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5f98461b-f8df-43cc-93c1-3419e771a6cc phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e0838966-13f7-44ce-a047-75e0d696bdf2 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c1c0f3c9-01d9-454a-8ea5-86602dc1fe6a phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6110e126-2fbf-4849-90c6-e10212008240 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eff7d606-ada7-403e-be91-ae3f44b8a558 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e97e4a09-719b-4c8b-acce-66acfeeddfb3 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9806a2f1-7670-47cb-9743-2372a54442fc phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2d24b835-95d7-4e16-8c84-12fa12ac81f7 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:43dbcf45-cb5a-44e1-b558-7692bd9e6257 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:92993dc7-cc03-48e9-a1e1-0833db125985 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8b09ac37-40d0-4124-8864-04ff5806b49d phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7126e869-3c73-4c1f-a9d7-028a4ff42929 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f9ebad7c-480e-4353-996e-a9627d2be62c phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0d0f9c18-2c54-4980-937a-91c424508aa5 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9e318d4f-89a7-4330-8fc9-e33b79fed266 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c6f11998-bff1-4c0b-a946-236bcc64af26 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:64c50210-b49a-45ac-9ca9-852c383fdc61 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c7be16fb-0d5b-4e7e-bd6e-bd8fc1df65ac phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9b71e1d7-434d-4c85-bee7-fcde43277551 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b72d7af6-e06a-4f43-b313-fd80769a6cab phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c376b683-d468-416c-8767-f8fd35aa815c phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:99e96045-428b-4e10-9b2c-7a4d93a08434 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a30f99f5-2143-4ac6-9872-7aa8959d8356 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41ef478e-b42f-4020-95ff-bb0e89b69613 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:055f195c-e660-4047-8f7b-49d09762338d phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7f8b3488-6fba-4fba-9958-14c8c005b533 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0578918a-b73f-4067-9833-3a74d88f3793 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e3d614eb-f190-4dc7-9880-b48b09c08991 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9c4f9994-bf78-4518-989c-023332a839b8 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:997abe00-ff64-4e28-9bd6-67e5cdf81cc9 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b5536172-e248-4c17-a1d0-65319a90d514 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6bc17eab-ea7e-4f7c-a9f8-1892ef316e32 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:44d75e5b-7a83-4296-973c-2a8c9ad46e18 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8b623282-c26a-48e3-a6c4-dd19e1728220 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:752d62f0-f1a4-44da-95c1-e7d14738e511 phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:556535f3-34cd-41b5-bd46-a0d9d5466cba phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dcbc5608-2b79-43e0-88f0-2a625b87b09d phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ac0d3ac9-6397-433a-b907-6e5c7a835698 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7b3df98c-f1f5-4f04-84f7-68e1ebe74ccd phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:273cd8ec-c016-451c-9453-5acb4d5aaf3a phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e1cf2719-0e63-4d26-b643-1c784889fb69 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9ec3d917-295e-4881-a323-252b0758d8f0 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e1e65d21-90df-4a90-a297-ed54a8e85591 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9dbdc009-50f6-4dec-b6eb-06d26b3d5831 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:acc579c8-22ee-4785-8ad7-27d3b7831838 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:54604d4d-7980-48f1-9b44-0f70dc09b815 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4c00909e-694b-42d4-872f-77b565a8c221 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:649307d4-8330-4e1c-87ce-8ece24f32f75 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:10dc9034-602b-436c-ab7d-1ef8b491430f phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a8774e63-2b97-404e-8e99-167e5a63aec7 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4ae36634-22c8-4bde-b284-ead996f87b55 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8a6a04eb-4603-4fd6-ad6a-4ab7e0e6aa9c phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:69b49957-dc6f-4b0a-801c-b31ea8c24469 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:85ebc5b4-bb1e-45d1-b7a9-a42b00a4f097 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e8a31c89-dac4-4ccc-9b7f-24c1eabf45a0 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e9ed2e36-7627-4fa3-9a15-671263ece9db phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8751cfad-f9c0-45d6-90dc-1ce0dfbf757c phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8f0964d6-5de6-479a-b9d0-13ad1bd9d746 phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:3b4e6654-25ce-443a-88e7-2257c10772d3 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b51f90da-2b62-4913-8131-9aa1fd56ad84 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:125cd827-ab3a-4129-af1c-c576433dfcfa phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b39f5a63-168b-40a7-9d43-0a2a4219d504 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:82c13dbf-0bac-4207-909c-d8c36011f245 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7f262f81-6878-46c5-95d3-030d06279cdf phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c9e83c11-b502-4f70-8106-94cc917f6512 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5b88def8-6fb3-4eca-a078-9eb201f56ef2 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1e188f23-fccb-43da-9ed9-94c1dbbb9e22 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:106cea8a-886e-4f4f-8a1d-180d6e0b6ce9 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:73372eaa-b292-400c-9398-e811ac470b3b phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:84caaaa9-8ecb-4416-b838-39f8fcc430e6 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:76104984-ec1d-4115-b36a-d26b4280b4dc phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:78a9b8f4-493b-4e7d-bad5-5515ca6a86ca phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c2cd80bf-88a5-4e6e-b699-539e6a3bf7aa phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b14a3ed9-612b-4e5d-b9e4-3398afbd4e71 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0c557dec-93d2-44a5-ad58-be70ed6dce86 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bf254320-6165-4f35-a896-33c817bbdd07 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dc7b867e-db20-4380-9377-2504457d0eac phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8e929f17-157c-4cc3-8e7b-3786f150325d phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ddcabc52-dbc0-4b09-bfda-1a171c7b59e3 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9e00744c-4acf-4e39-94f5-c9e67cfa59b5 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5ec9912f-ee9f-413d-8a44-29d65121466d phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2f2b8b0c-a768-45d3-a135-801b0a2938b7 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7c116ba9-d320-4c17-b3b2-2ddb4b6e3a24 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:eaf579fe-26b4-4acc-a0ed-d1b4c90f0907 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b24560de-bce5-4207-a058-c53837c139e4 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e67cbaaa-05b6-4aac-b502-81ae56564ba5 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4a981603-a114-4db9-b8a8-0f223b2eb864 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4fdafb12-046c-4c59-bfce-68c4ed20f065 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9a44f17-39ed-4e29-a590-d73ca52f0b6f phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:78158fa2-a1b3-4e82-a8fa-8524272bae06 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8675a4be-f98b-4910-995a-339f8ab8d51f phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:56ea052e-7e01-4093-a44d-5cd4d1c67994 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3c025bdd-e5bd-40f9-9572-76745290fd0b phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:27b0dabe-5fa3-4c21-800c-ca237f27dd67 phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:6b342470-289f-4b93-b268-346924fe4c0a phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:471f0360-ebbb-47da-9835-a5b407574013 phenopacket.store:KDM6A.PMID_33674768_Patient_33_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4af8a275-7b15-4e49-a2d1-1f78d4025ffd phenopacket.store:KDM6A.PMID_33674768_Patient_33_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:10019d6f-a6b1-4aa3-9e4b-a3ab38a587cf phenopacket.store:KDM6A.PMID_33674768_Patient_33_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8274ddc5-2841-4218-a7b2-de4d5731af7f phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ffd7a2a-29ff-4ce7-8089-3b4fc325613f phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b5d869ec-38e7-426a-ad11-a0016ca856a5 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0a8f3237-f092-407b-9dcc-04877778b085 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:545e2d6b-d310-499d-b1ea-96ba1cea0873 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cd65cf89-9c4c-43dd-9f6d-18f36e89c0bc phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:409547c9-8b9e-44bd-b2a2-e7ea0466ef99 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dcbca023-6902-44ea-9a25-668fa79192fa phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7f244f41-f483-41f5-9085-56f927d5b6ec phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6b37a700-8eeb-431d-8436-884022567f4d phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ebe8e8cb-137d-4712-ba07-fce918a1d103 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cc3a0005-e235-4b6d-bd07-9af7028ab645 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c0fc05b4-6aa2-4fc5-8693-c89fb1a40fee phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:45965153-bd64-4e73-884c-3e17b7c8449a phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8e2e3e08-7bbb-45a7-aca6-c52e9db217a8 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:db182fb1-2510-4eff-b9e5-863d6dc13da1 phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:44fe9934-c483-4ae6-b3f0-c78946c8f055 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aaf4079b-29f8-434c-b2de-632a724622f4 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1202a372-98a7-4f81-832e-e880540b16be phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9687c09d-64d6-4605-9734-e6f4c432ec42 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:95a88905-0b9c-44f3-9360-fa4a8731b971 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:28672b6c-3147-4764-9ba3-5228e60689df phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:52fc219d-b478-4c87-ba78-1068a936f431 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bd0c457d-fccb-4b53-ab82-31e0de7feaf6 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0010314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c28f0496-aa84-4af2-b46f-fd67f3ad1497 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1bc4014d-04dc-4f53-b64a-7e2df3931f0c phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6b8339a4-4bbb-49e1-bcd7-0e071e148bdc phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8c430f27-df38-40ed-82aa-8643191d4d54 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:40703cd3-f5f3-46e7-9976-273c39f4d9ac phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ef168d10-d410-4a2f-bd2e-e16f51a0dcbd phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b8b9de6a-9dee-4e09-b7ad-fe5e1292daee phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9a3ca375-9c2b-4113-a7a8-3c59858a515b phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0a6ad22c-b125-425c-a9d8-c7347868c8de phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dab41624-5c04-40f5-a276-7d49ef786a9a phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8945f8e4-47ee-4493-8407-da44353a998a phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8b0e11ba-c9af-48ea-b1ec-0337e2a923a0 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:72d9e009-3f43-4092-a3b6-4466b29df3d5 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a6f0a8a2-7b17-4c84-abba-7f2d618cdf5d phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1108adaa-6560-4e20-a0c3-53a37b70b916 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3f002b7d-d870-4867-9059-05c59e7cc6ad phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a04a6655-fc41-4ada-a303-a97d1f85b5b2 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e302337c-e550-42f8-85d6-ddf8406d70f4 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3ed6ff9d-677b-464e-9fa1-b5e038f121f3 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3b034610-26f6-483f-b36d-d8fa7b6d48e7 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0930cf24-a906-4346-a1e5-089d65405e12 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:af5ea58e-9fc2-4962-a97a-4425cd70d91d phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f5ca0dd7-45e8-434e-9482-2227556fc767 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:811b0c86-be7c-4351-b9be-067a472bca78 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1b4b0134-b16d-4937-bc1b-68e553a3be82 phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:839d0464-c77d-42e2-a03f-f550aee0a38e phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:4873ee51-da66-43fe-80ad-2c46a666d4d0 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c7730e11-8832-460b-a064-05b2f8a47294 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a7589072-2cfa-4415-8958-8f66c079daf4 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2eb3b2c3-82b2-44da-95da-9210eeecce84 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e5badf45-594d-44d7-8e0e-92d719b26c16 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:67c8b7c7-e971-46c3-9808-3ccb08cceefa phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0000771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8253b357-1e88-448d-b4b0-a93f318ce402 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bbc52149-2f08-4e4b-aeeb-160f9914b0fb phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:742174db-ac29-4e12-99c7-fe6b9f1fb2ab phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:430ed2a5-1183-49b5-b893-f45ccc01ec4a phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:62cfc46e-a709-4bed-87b2-6aad13a80da8 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5505f2a7-dc5b-4613-a9fb-e3d55834b921 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:82c105c9-80e3-4f77-8e95-c26bb7eb2da2 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b767b5a2-43bb-4a08-8243-b3466bb56baa phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ceb2a4d8-d5ee-409a-aecf-58c9f240283c phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:76fab9aa-d1ef-4eb7-bc0f-1f35b328903a phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:50965db4-65a8-43fc-8a49-b017871bf47d phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e3887193-cc1b-4017-82b2-a5f652a3c0d0 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b67a1695-0336-43c8-b9e5-d8a6f3717765 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a33f2c34-3570-413f-995a-175a747b8f55 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:664d69a6-4241-487f-8460-64764b12bea1 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7d892a04-a334-4684-8dc3-f5cc3085ba35 phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7e4e8e74-6867-448f-9b47-051dd33e074b phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ce13736a-042d-4129-b0f3-9b95bcddfcd1 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:62b80bc8-ce93-4790-b79c-7bc520d75898 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:93c05e89-506c-447b-a9c8-08cf5b13e95d phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c4f1aefc-554d-484a-b07f-bd767fb6ce04 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b51aabc6-30b9-44fb-b191-1dcaca0ab4e0 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:116311cb-af3f-4860-879a-a1d1b40d83c5 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4c3a4db4-7f74-46d0-a1d5-2c4ff6152e10 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b137915c-ca81-4262-87d0-d7afae0f7a1c phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0df67e35-f767-4123-a1a6-794f36f7d8cf phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:afd3b9ec-ffd1-4e69-8b59-c883864bfa1c phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4bb18f97-1500-47ee-837c-aba8292ecae6 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c40012e7-7add-4399-b1ef-8dabb965d3a9 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cced3a0a-aa0e-4298-aa99-789e37485843 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b79e44f5-d5d8-4546-9bda-302bd42e068f phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4eea9277-9569-4524-9276-84f4f7909399 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fb3aabdf-7195-43f3-a30e-ffb7c315ae61 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8462a0ff-200f-4e95-84ed-0ca3e253f9ad phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8e5ee270-e159-4cd2-82e0-a6bdc32dc6c4 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:28c6a7be-9909-412d-b268-6b378f094359 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:abd134d5-4a5a-4412-9865-20e213af25a3 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:707fe979-47bc-4060-a5d8-06963e0b6497 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5bcc2ecc-15ac-465e-8a0a-4f3653a78b16 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:448afd09-e043-4408-a07b-91f15fc5c823 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:65ea55cc-3daf-427e-b627-7f998f71945d phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41583bdd-fe78-48ca-b955-a0d529305135 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:15c99842-6b88-418a-9b74-0e7e5759cf1d phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:60e3cf1f-2de6-414e-ac93-21ea4c4705d8 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:03838ebe-08cd-43b6-a5b6-13c7fb040439 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:62ef0900-7a04-4c93-8820-b98bf8436237 phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:b8a9a73e-5aef-43ac-abda-996de4d32aa6 phenopacket.store:KDM6A.PMID_33674768_Patient_71_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:915367fc-78b3-4657-a42c-6404373d3b81 phenopacket.store:KDM6A.PMID_33674768_Patient_71_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:f15ab5f3-6b39-49a4-88f9-aa8828ceef8b phenopacket.store:KDM6A.PMID_33674768_Patient_71_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:7925d80f-b58b-4d7b-adb6-8718add8d770 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5c8e34f2-2163-4735-974b-670bd2927ebb phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:75fa3625-6f03-4ceb-8bef-0f7752fa09fa phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:88102e98-0b71-4c78-9f47-c75d058321e1 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eea8c6c1-8821-4a3a-a77d-ded288f9fd0b phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ee06c562-5af1-46a0-8440-2847b9fa192b phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:05a2c480-ea5f-4214-a929-5bfb4f81ba91 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9c787c30-0725-46a9-992e-cc6f0325766a phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6972d54b-34fd-4407-9220-d599005b418c phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:62a03cf9-088f-47c0-a00a-5a847845416f phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eeab643d-2268-44ab-9919-b4850fd454c1 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b914a9c1-b555-4b3c-9c3d-2565eb724137 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6a7d648d-16c9-4a6a-bbf5-eac60cf7a2b0 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7014c6f6-0dcd-4206-aa0d-f5f5bf0ce205 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2d440ba9-b219-47ef-b121-28a7e531ba5f phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:17526e6d-caad-43a9-b3f7-fe0aa451cc12 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:545b6833-5752-4939-9331-cf6a4d697c80 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:79e9875f-c9de-47f1-b063-1107a3caca6f phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e9e9065d-4a94-4aaa-a302-e5c8e15f17fc phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cdc09df1-8171-421e-840c-c8bf289b7569 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2686a400-0474-4f32-9dc7-9fcb189a2e02 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:704c0f51-b467-44e3-af56-bb612b3845a0 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d7578ea1-323a-4947-b89b-d606874fb055 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9963fc28-8b5a-476a-8cd7-a4f1f178dda6 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3a0c54f1-a4a2-4b2c-84fc-384160cf1380 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ccf47f81-5268-4f85-b957-6ba7d4518478 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1c0bcd82-ea81-4a06-ba2b-4b041dec81ac phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0d0de7d4-b3f4-49c6-b456-2c0d7ea5130b phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b8e118d7-00f6-4f14-b9a5-fc7b25637616 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8d9a5cdf-47a2-4696-9dba-917493424f88 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:214d6223-4d27-4228-9b11-4332df647825 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e2595dea-3584-488a-83a4-e0f8e124bbba phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dc3110c0-31a6-46f6-916f-2ba2223f4b62 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:07ea2538-c792-4903-80d7-d7430a0f3eb1 phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:1f695534-7efd-46cc-a94f-0f53a113d4da phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:28ce8aa2-c6bf-42ff-811c-74246ef41bc7 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:26049bc1-f4e3-46a3-a042-47b65ead2624 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d1275314-7023-4caa-8f78-310bf344865e phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:584faa4c-3628-4918-abf2-99e93bf95f85 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9e166fe8-cb08-4ee2-ba39-d820e38c0723 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cb5bc9aa-7479-460a-b0fd-d22e37edeb12 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:24481091-11fd-4fce-a619-83cdb5801713 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4e705e44-c38d-4813-acc5-00f915fc53d1 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e4fa1f05-6293-4458-bc6b-d0865258f6a4 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6b3264c8-58f6-4456-ad14-beac76e8f9ba phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e8aec3d5-ce9a-4a34-afc0-a182c49e8be2 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f1e0fb36-ba31-4c9f-a106-086047aee8b8 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7825abcd-eaa9-46ec-b4d2-2cb62f0a8067 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2bda9d5a-87d1-49b3-a2b9-5214096198c8 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:944405ac-ca91-4143-8d81-f1ddfa46cc20 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e17f2398-05f4-490d-b088-1bc9aae92070 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7703e0ca-d420-40ea-bd93-fd6db897ec4f phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:66aba38f-eedd-4845-8834-6208e280c25e phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f9d0e336-37f5-4afc-8cad-be6f53110e93 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:26a205f7-d57e-4ae8-b4b7-a3f55fec9918 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8aa47442-b43d-46b6-a476-bd1ff9d02593 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:06330f81-4260-47b3-89c6-a2fcd1181b81 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1411a7f2-fb08-469e-8edf-5f74f246f437 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b12e0ad0-f30b-4a66-9ffd-834d8d301ebc phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:24ea9c76-4717-4cb0-9966-bfebd8642599 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6eb011d8-63be-4365-a99d-7c2518fae773 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c4cf449d-cf3e-4e49-9233-6e3ce00d575c phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7fcff0a2-ffc0-4a77-9a03-7ad6cf33318c phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:32ff3c69-6eb6-4c47-9f8f-5df4c8991777 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:727093f0-a91a-43d3-81e7-2dc25b87f002 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:202172dd-b194-48b0-bb62-55acd8b77345 phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:f22e5c5d-907e-4b96-a05c-ac882992575f phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d7ff130c-4dea-41cc-85b8-b349239f1457 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c6f390f6-e525-4a08-9e79-992a180d3578 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9ec89f04-7a26-4d50-95fc-20ec1d71631d phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2383af2e-0b6c-4fc0-936c-62df738032c6 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:aee58320-4103-4497-8905-c11e2b279864 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6c0ee296-7435-4965-bfee-e873de7b893a phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:78742d81-5a38-484f-91da-2245e82f30e2 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c8f34dbc-e36f-49ae-b78c-bc7fc817560e phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0f9a386d-3e04-4a86-9ac0-83ca86888b82 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d7d2be9b-db59-425e-80b1-73848897a823 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1cb5ed91-1350-4aa8-b765-f9c7eb7f39a9 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:956c11c7-c244-49d5-80df-1908c617e39c phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d33b5732-c25a-4711-b6ea-42e5767eeead phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0348c85f-f427-4f3f-8475-672fff858363 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e3adc9e8-c0f6-44a5-a853-cc2c1dfff957 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c6bb1dc5-8529-410a-a7d1-5a94e9b9d466 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2721120c-c49c-46c0-987f-f1f527151d9c phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:bd7a8cea-b109-420a-b4be-33f76f22add2 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6b522633-784d-4ee1-9100-04cc916e6728 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3e06e349-34a5-4743-98a7-5883f925b9be phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:280f9605-c48b-4dce-88a1-34a5cd41bae0 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2f572853-50ba-4cc8-b3b2-345b2fb50bfc phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0f264a88-2c6c-45ce-88e2-48c642dbdd12 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a3106bbb-ceb2-4abd-b1e1-21d8491f5bd7 phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:dadb28e3-0134-4c29-8bc8-ec502c50873e phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ed8b71f2-d7c8-442e-ab85-5e32b6081e9f phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8ab2fab9-0df0-4880-952d-11e3597932a7 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8cc49317-a072-4f61-bcc2-baf9d5cbc4bc phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:97d4ef35-e12c-40c5-9972-75f0a0b22287 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:36a3e699-451f-4a3b-8500-775f649dae33 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:976ba22d-a266-48c0-a889-67733257013b phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0853c78e-63b9-4690-b87a-fa405ac6afa1 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f553087c-06cf-4929-8277-ead88b961686 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:29707ff7-92bc-4bda-951b-0e6a0f461eff phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:89cd8896-ac33-4b88-983b-0d7ccaa04349 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a2294925-ef26-4c4e-a673-b04760e0da93 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c0bf8c5a-a1e1-495b-8933-c101ed9d6304 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3f6d9a0f-23c0-4cb4-a555-49d5a870b03d phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f9da959d-0dc2-4bf2-a4fa-bc96b9155dd7 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9be239c2-3010-4efe-955b-8ee261b0df70 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:df8ef7f0-c5fc-4a67-95c4-75c7002a5624 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9a0c80e-9577-4073-84a2-77e81076c9c1 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ae385922-14df-4a8e-9762-b43a401c62f5 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c2078ecd-7339-4442-a77d-938070b75e08 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b6306767-c71f-43e9-a0e0-df66bb5f4d1a phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3be4b586-825b-4b85-b961-5fb3bbb38c57 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cbd29728-e5e5-4f82-9569-bfec223d1e01 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7e874075-5c4b-49db-b123-e89fb7d2863e phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c310067b-87cb-4e14-a8ae-530cdd14261c phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:234f3d64-2af5-4733-89ec-91d0cae7418d phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cd9dbe75-4b64-4c26-be40-b89a621db6b8 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:62753882-0ff6-4f65-a7f0-71dc4cd4d881 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1dbdd22d-90f0-469e-a677-d70bee3ea13e phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e52ec12e-64c9-4af2-9068-936cc0c39d93 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7b462879-3822-41a2-aec0-498286cc5b98 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c6926b68-9464-4e8e-82e7-97e2b28f5d2e phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a9c22132-8fa9-41f7-a173-ab3921096dbf phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8bd407a6-4961-48f5-8185-03a4687cb80c phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:f2b7c873-30fd-4c06-a4b0-4fe9c14965f0 phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:25be5958-e124-4401-948b-af2451195db7 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2802c63f-63b6-47c7-b5c8-905b435fcb89 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e3108edd-6030-431d-82be-5b2e87820ecb phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3fe3cec5-758e-4454-8def-71863dd73701 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:78dbceff-cbbb-4ba4-8eb4-66c6b14e1178 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5790cea4-7105-4d9f-b56e-4df3777de53b phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fe5ae2b5-0f0f-4d22-a697-3517c3ff4426 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2af20e35-0f25-4be0-aa00-ddb645dd5554 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9d698627-2efb-4cc7-bfe6-29595bbca4f7 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:82a7ce82-dc6f-4b8b-8d64-e6ad086f90fc phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3d6a9381-2832-405d-b0c3-265c7cdd9a21 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cdb0a842-e30e-4ea2-a5f9-28a302d7ae2c phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a0a7b0ac-c365-41f4-932b-617cc0765864 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4db5fbdd-4f13-457e-b931-f8a5426c233c phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8a11cbe6-4636-4dd7-9d64-c659a19c995c phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e8f6ed28-0196-45e7-95e5-b41de891dada phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1d7bf78d-743f-40cd-9aa1-768b01785022 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f5c86fda-d568-4096-9ab2-7c87a69535c2 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d9356b72-96a1-4651-9428-3d69b859a587 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:cdb5f1cb-4413-4cf6-92f3-405cf037f808 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6ca02de9-e04f-41dc-916f-62b2eb55d7c2 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ff0e4368-e9a2-4126-b646-c3ff98fce6e4 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:0d29116d-45f7-4265-b111-8807b484f7c4 phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:32de26a9-25db-4160-948b-9ee63ba3eca2 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4e302584-2019-43cf-bb5a-c96a7a57f59f phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c30d0067-f243-45a3-90a1-fd37b9464662 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:985e14e6-421a-4447-a92b-a73731b66e64 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ffc3bce9-584f-457d-9d1f-52b4535dc90d phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1a05c960-bf99-4eba-ab81-b8ad57de3fe6 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9a2e1f41-8934-4f12-86db-67c1b0e5e566 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:74e48028-9fe2-4f3a-9ccd-2fb354afc600 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a0f496aa-af8b-496a-8ad0-6066ccfa89ee phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6134cc3a-49ba-4bdd-ba49-8b29d070f30a phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:54962b42-cb0a-4582-b287-46d751a54282 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b5353b39-2950-49ce-ae90-949d4dacb2d2 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7e241c16-8f6f-4829-8bb0-f5d30d8e40fc phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:72eb710f-d3e1-489c-b79d-c5e377ec25c7 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e918d427-8396-4f3a-b721-11221ecd5fcb phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4b69109b-d6ab-43f8-8115-a7190e253c30 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:09285bfa-e7ad-420e-ad8e-7ea3c109da2e phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:da04ebb3-8ec6-4301-93e3-77f67119a867 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4ff65c58-3605-41da-a7b1-4010ce6fdf48 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:843cad08-04b7-4e29-8219-09620913c946 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b089e38b-4d97-4ab7-98d4-e8422328f5bd phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:268cc649-84c5-4818-ba0f-24f4110de426 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:da031c11-928c-4e43-837c-51d9d63622c3 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:178bfbc3-3c53-479c-926c-aeb0c7e02f71 phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8782cc02-3f74-4146-a7d8-de7b2259937a phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:71030084-7d1a-40fa-bbfa-b9ad0abe283a phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4935e237-4920-4881-bb91-54b382c8b96c phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:08afea18-c989-413a-b1be-15d26a8b6975 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eaba45c8-abc0-4601-804a-c1d368deddea phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a9183aa4-a2c3-477a-821e-64ff376f75f0 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5cd4757c-61f4-4a67-a466-eedf41a8ff0b phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2f869d6d-e71f-442c-83f5-dae0713e63e7 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:87df6dd5-0b8a-48a7-8d52-6b01d9774159 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:56b2f7c1-4080-429d-bcc7-c455c0ce4312 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:dcbd5131-423b-4583-82c8-d9e1a33b9dcc phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d7ae81b7-9131-42e9-8f65-3f2ce5864853 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:070f60df-d204-41cd-bb83-b67997736ce9 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7fa6a88c-f9e5-4986-9bbc-4ca89ed771c3 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5bc4396d-a23e-49f3-9d4d-e089eeb2aa9f phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:3dfdd137-50e8-449e-b31f-32c6819868a5 phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:d736d4b6-0cba-458b-96a0-bb1691b76c23 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:86834138-6787-415a-81db-f24572fd1041 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b787737c-1c74-49bd-ab56-22fed95da7ab phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fccec5a8-c5a9-4774-bd2b-673587f8de79 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f15ebc88-e23b-429c-a4ab-449ffca1455a phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7112b657-4e9c-4e32-ab78-6135186e4dff phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2be746af-196e-4cf2-8b5a-57c72c68e53d phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ad44889e-9580-48b4-8db3-7cff1e190e0c phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0b9819d5-2500-4559-bd14-4a7b735e1b78 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d5cdb1c3-b45b-4ab9-b09f-7dd3c1727818 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e2a39e47-608b-4e98-8fdc-a660ab2a39b2 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5c8877b9-ffbf-488f-a938-842ded57243a phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:57b832a3-abdb-439b-92ab-cbe2a6fbb83b phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e65117e4-36c7-468a-a892-ae5fc356a187 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ddf5cc89-6aa8-43a3-909b-9058a30687bf phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:797e7dcb-28d8-4da3-987e-650b74c81ee7 phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:04038539-0494-4b3d-8bda-7f29ae0de42c phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:e001ecff-20e9-4260-80b6-59e09202f3f6 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:471e6628-020e-49d6-921f-f2672eabb273 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7b4ad46a-e325-4a71-a7d1-dc89569458cc phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:af0f4877-76ad-48b0-af0d-be2418c7aa6f phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:077831be-be7b-4fac-9ec3-cc4e0c564112 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5742b5ea-5533-4e89-8aab-f9f192e12ce3 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3801e041-fba8-4bb6-bba1-e965336a000c phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ea586ccf-7f9c-41ae-acd9-6340b38d052a phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:51d1d3de-45cc-4b9d-88e2-3fdf444b91ba phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:548fd370-4f17-46ee-ab0f-364a0805ce5c phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f7240730-165f-4911-b026-a72083eb2634 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f7673b4e-4680-4341-9946-97a5e7db19c3 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a9b715fa-ec7d-4e33-869d-4db2b6e8b693 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41102635-b648-4341-9e09-d4bba27c2703 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a56f0926-1df9-49a2-a936-e6f38f15820f phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fc32e1c5-7fc8-4a21-af7e-ccc09935872f phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:86fddfff-dc39-479d-8394-6e8a64f9a092 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1265e7d0-216f-49a7-8008-2244d2be805f phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:edc18e2e-5a12-4dff-90e2-78720926f108 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d6c3ee86-6c35-4f3e-bc8e-2dfd30c3eec5 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9fe1d598-31fb-4bdf-84b2-f92979c43e26 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:66671881-c486-4315-86b3-3ef1ebb828d6 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:65bff0f8-f75f-44e2-99b4-6688a7004e46 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b646315d-f1b4-4582-b154-7c0d3db71856 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:118144e5-8436-43a3-96e9-7ea1d565d631 phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:75e3ffd8-5d7c-4042-90c2-9c127ff91bd6 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:52cd3f0a-66c5-46b0-acef-5b9c70b5b30b phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:096c03ed-1d73-4ac7-b646-ad4efb84d205 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:953fa798-a7c6-48cc-ba03-cba2b60eccee phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0db4ae1b-41ce-4ca2-9d06-1d40253ceca1 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b3ef9a4a-8799-45cc-ace9-3466a8051eab phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:403793d2-3039-445b-bc8c-342d8da922dc phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0e9b7834-c5b8-4972-8009-c3ca6eb5e1a7 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cf88cdae-f77b-487b-b98d-1fa9be0fb2fe phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:05e67b3c-4df9-4d13-99cb-07f21feba55b phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fd77d62a-dfe9-443c-8d86-8a0af41d850b phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:036dac7c-b041-437f-9238-d510ddf05fcc phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:12ac6b00-0e7a-4c38-97ab-0c24dc4f3865 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b15b2942-de47-4e7a-82ef-c29adf50f34a phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c765a93b-0ac0-4277-b068-c0c1f108535c phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3b29e0b6-ea22-4359-9e74-85cdaf9fbe6a phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:779ecd89-4290-440d-b054-6e6b6227cd4b phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f742310e-7494-49cf-be8d-45cf3ebeeb61 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:023034d1-f21d-40e4-9d8a-e4829a95b785 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b8616327-402b-4064-aba7-64ade044a294 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1f4a485b-bdeb-44b0-a740-e5576ad8d56f phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2988a1bc-8222-4d36-9897-c0c464d1e8d5 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8ec98280-8677-4cf0-8284-18cd78c7e416 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b079a65f-1b1b-4c21-a08a-b80f2d8387ff phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:25c6040b-d66a-44c9-8b23-05586edf3b24 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9f695e34-bd9e-4474-88e1-ef31a18c0a34 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c8a16b7b-aa40-4671-8936-033f3a1aa5c5 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41ab5c9c-e89c-4ba3-8057-01c83d345d95 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b46b4a48-ed73-4c9e-a574-f965cbd43d20 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8ff4c701-d0a7-4df4-89e5-52a2ef2ba09f phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:a7393994-a72f-47fd-8e35-28132b3190e9 phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:df70eda4-be7d-4a84-83f4-504f3a4d6649 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:06f7f1f0-8e64-4248-af39-c6abccc33517 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2e8bc12d-e78f-46bd-b12f-68f7da4c1623 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:997d5ce0-8461-493f-a526-01a49e96f801 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:773d70d6-c507-47b2-b75f-2f0c054356d7 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7ed91cdb-9dde-4829-a04e-069a901271c1 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5971a6f7-e63e-4460-b621-75a423a4a3ef phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d4fecb66-c0df-4e34-82ce-995661bb7874 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8736bc24-eac9-413e-a87b-548ece22a022 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2f20879f-e431-4b93-8949-17347aecfe98 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b17938bd-d565-40ab-b3ea-c2876b05fa06 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8874d5f5-100e-4333-aec2-7719c0176456 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5b25857e-a946-4628-8893-3dcb6672aecd phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:987c9a55-752d-4dfb-ad53-f0c75d18d03e phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2de48bf6-f4df-480b-b13e-b4b20eb72d6c phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:38770592-b38e-43e1-9bb6-67b99ccc1749 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:39d8ff17-3479-49b5-a302-ed0d75005669 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:59035be0-0030-4b7e-a8f0-d3eec0cc41ab phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:118b513e-f0b7-47b5-81b0-79ebc68c229c phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:53d512af-39d0-421a-b3c8-63d18d9936b9 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:ecd2081e-749d-4dd2-a1c4-e347e1af9d70 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4bf3c8a2-3437-462a-80fd-34e283ffc96b phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4027c0cd-56c6-46f5-aeb4-6913f6eebbb6 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2699ad64-05c4-4118-a4a4-57525a7e04f3 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5164e5a8-8d28-440e-bb51-8cbc0466964e phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:20c8ffd3-9526-49f7-8e9f-b20108d4ffca phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:db3257c8-142a-4337-97f5-29c718f52f9a phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dae942bb-0741-4c54-a794-4dda97ebc789 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9b0775e8-90ac-4ea7-b118-af509cc19811 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f8900243-65ff-4c03-9fd0-6110c0fa607d phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:00f58e75-cb81-479f-a750-0e154b1cabb1 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:29fdb3d0-2425-4ff1-a333-378b37dc80f3 phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f45b80b3-0a42-4c2b-857a-849ec0b09e6c phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:2c06efac-5533-4fde-80cf-bfbf6f86409a phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:139675d3-6def-4576-8dfe-033f75dd2d77 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fd5637ec-f122-49c1-9e40-55e1104c1f4a phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ed1ae980-2fee-4156-8125-710f974fee08 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ebec1ee5-a60c-40da-ad7a-cd2ece380736 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3c5a3134-94a2-421f-a714-e19fe44f0841 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1eb82207-4986-4fae-90d9-2ea2fb5693b3 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e57fad61-d9f5-4cfd-8ad5-751b58670a65 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e5650774-b840-4554-8b89-74b1790901d2 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b44b9737-deed-471e-a0f6-d1f7294a4bce phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7e159d09-63cf-45cb-88b1-89ff4ae5e249 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:233eaa5e-4bb7-45de-a7a1-4f58f160645f phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:64a42f77-7f82-4906-af49-2ee6c8262c25 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:dc78d728-55d6-4ba5-bfaf-72bf99a01097 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1715c6b6-8e2b-4821-8484-b1c1f1297278 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7bc29847-b92e-4621-9f54-7b48087b442d phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9367220b-8718-4db6-a96b-db8b25c78f24 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a1c9a4bb-4181-4e62-8f21-1f114913b886 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9a6f7860-f188-4170-a67c-3186c30a82c6 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:50f08afc-46c7-4371-aeb8-3dcf7160baef phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a3b77a8b-a447-4fcd-b76e-211d3cdbf3fc phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5e6d78e9-62f3-4ec5-b982-a952c9644229 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:06befcb5-6ff0-4ad5-970d-4017f9d281bf phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0a54e502-eac2-4b99-947f-fc952d7cf7c4 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:57d16068-11bd-412d-b0fc-a55507fc6e55 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:09757391-67f9-4fab-8c0a-fb231e557a59 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:fbce9b48-c6d2-47f6-a35e-908bfe5c0c1e phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a4b5262b-4cc2-471c-8ed2-449eb52fefc3 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:754e54b7-28cc-4a7e-afe0-478752ec7ab7 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1609d13c-8f70-4166-926e-4a79f829c717 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:164ac105-b0e3-4604-9e23-07a4d8144ab2 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:e24a73b7-12a5-4331-932f-97e66581c422 phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:13142f03-9fee-4141-be06-d77f48edd44f phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:bea46951-9b1f-482f-8660-beae9a546453 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:72e9c060-f833-4af1-ab1c-d16fd5e9d6c5 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1747da2a-76d8-47e3-b84d-f2d9d67252d2 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8cba00f6-ebd4-430c-89b7-09f7cfce3a03 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d469a4c3-3bd6-4ec2-99e9-eb0180024021 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:fc1fff87-755c-4e7a-81ed-6f25bbe65c61 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e996feeb-6b6a-42ba-9b3c-8c24a9341da7 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:96ee52f5-f1cf-43d3-8e0b-020bb8bc7453 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5e7a07eb-5728-4cde-915e-4c2c3866b9cc phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2521de42-1950-49a6-a03a-25daae5da178 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:98e803f1-e6d1-403c-a66d-32bbc2df332e phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:4499c740-b6d6-492e-bc25-6d3a93d2c51e phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:da0fcac6-ae61-4c8e-8cd9-464d5cfcbc2d phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:992acb2f-7930-45f7-9165-9f205743a949 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:08e93dce-84fa-4481-9f8c-60e89e5433e4 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2c405d24-6c3e-4101-8551-f8ad0cfc82bc phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:19a65734-51ac-4d76-97d6-8ac5e480f850 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7186768d-c241-4000-a88f-1dd6b9db702e phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:66920f8c-a819-4c1d-8ac5-e6e4dbcdc73a phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:976e09de-0e3e-4c24-a5e0-bf18b5ab1831 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:576511f6-7159-44b7-bdec-64ace8e032b9 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:985faa09-5736-4be6-a050-d3d9f183cc26 phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:f77f0157-b1f8-4046-820c-af9d09bd511c phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:ac28195e-186a-487d-87e2-c0b067f72b91 phenopacket.store:KDM6A.PMID_33674768_Patient_40_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8bdd9ffe-caf0-4e11-a454-9ad66af40971 phenopacket.store:KDM6A.PMID_33674768_Patient_40_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:3ca56e2c-8bcd-44f0-ad98-58b9b91319ba phenopacket.store:KDM6A.PMID_33674768_Patient_40_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:37a921ee-fcfc-4b4f-a546-4c426c1e8de1 phenopacket.store:KDM6A.PMID_33674768_Patient_40_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:2b120f05-7e79-4924-8efa-801531debbe2 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e4f32900-be91-4d0e-b702-52fb7f6d8b2c phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:311d4198-ec95-4de7-a406-96586753917f phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:cdc1825a-d210-4525-a850-2605162cb162 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ac7b3bf0-c48f-49aa-a542-1bcb40aaa8fa phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d9cd6a2c-740a-4a95-9b42-bf04e44ab394 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:063ff2e3-ebb5-43b7-adf9-f024500c9b80 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:a0793a38-e11a-4b50-a459-527289eafe60 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e15d2aa7-16ca-4220-aa50-0a9fd7c5ccc5 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:82b3d39b-203d-40bd-a75d-e7a3eaafbf42 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:036c4013-83f7-4216-8bc9-5ffb0f10158f phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eef4f0e4-270a-41c0-ae71-86e1889feea1 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:c59ce3af-53b1-40d0-aff5-80678f387699 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:051bdfc6-9e30-41d3-877b-158924bdeb4d phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:93d6fa69-ee8f-40ae-8bcb-b0abfe60e104 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:03c8c144-8496-43eb-98f7-c6599d5cd4e3 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9b190010-470d-4129-bb38-14fcf11ba61a phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:85b71c0a-a54b-4651-908d-db991ac8efed phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:39cd29b9-5af2-47fa-8591-7b2398421716 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0529bc31-53dd-42f0-9d36-e7883fcdd22f phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1e4aaa88-1971-4bb2-9145-1905dd116fca phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:12aa5831-8dd2-477a-bd11-96f857b276cb phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:62c5414c-5767-4ac6-9df7-62e2db22ff92 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f7f2f721-b268-4a5a-8f49-a058d3b6acd5 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:acf92102-dd89-4f1f-b904-28c0ac7cb9be phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4cc185b6-4ed6-4050-b570-3815917a88c4 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:466cdbcf-0e9d-482b-8ec9-b8067b0c70c2 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b314fdfa-08e8-45f2-9917-4ef0f572b553 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0c056657-f720-4528-af80-c2b9d9ee3f40 phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:9ca32417-cf55-4f32-9a89-168d8367ff0a phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:a78c7a30-8259-4faa-a0f0-aad05bbc6cad phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9cebf790-d403-4802-a0ed-8ce92b4f628a phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d5edb7c1-05fe-419b-9f3c-572cfff3a0db phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:8213a98d-ae66-4bf2-acc5-64b42b5972c7 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b0d2940a-a72a-44f1-a6b8-d01a23d55e1b phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:d3cc2d60-89ce-43f2-910e-36a03f3129b4 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:55632fac-50ff-46eb-aab2-8b846c5b50cc phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6603e9b8-fd05-4d0e-8e45-d0cc0e8c6f32 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:662d6a8d-4bb6-4807-b586-8a1fe21544e2 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2658ef36-f0f9-43c0-a85c-82fb3f5259c0 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:65ac9303-5c57-4ff6-b64c-f816e693ff3d phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:99db72fc-cea3-4dec-a502-e0e56a4dc1fc phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:90935916-5673-45b0-aaf3-14fe07b59742 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:63f1aee6-098d-47ac-8450-6de4ed85308c phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b759b292-74c5-4c06-a7c1-d6e0c85a34bc phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:afd1a468-8b96-42cf-bed4-86481d0030c0 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:61574248-073a-4935-9f42-598ba8f15397 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:07a8c536-49a2-4397-b60e-f4bcfc0e84d0 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:41e44c48-38ab-4ac0-9152-8dc5c678adbf phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:0022a367-d2fd-482e-b2b3-87b2f59d7dc4 phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:df4b6b25-ff89-40c1-b36b-2c03d272d00e phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:8233832d-26ec-489d-b959-3921d18668fe phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5b03660f-9fb6-449b-a73d-96d2ba3f9880 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:0635e5c8-876f-4a21-9268-3b319d97eddb phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:5a1d353b-aef4-43f8-a79a-dd2c87258785 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e0994558-61e5-4685-bebb-17e0b2b8901f phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f559f2d3-0329-41ac-9bb6-786f5466aa56 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:15c657de-30c9-438e-830d-e9b775cc4188 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:63209ed5-467f-493b-bcf1-bbca71a1c553 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:22d8a836-d5e9-4a38-9a35-e5222c7261ff phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:e1bd3ecc-5480-45f6-ad39-703a6c184945 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a0bdb7a9-1725-4096-9293-7a2418b97b6f phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a1b2a51a-c23b-48fd-b72b-7adccb8906bf phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9732bec9-2857-47d3-bbd1-3320ca68eab0 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4c3e36c3-3e47-4f4f-93db-01581874b770 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:50784427-9643-4a9d-86b2-0871fa75024d phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:320f29bd-6d60-47fc-aa25-a29cd3f99333 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:29b17625-fe75-4268-a802-edaca8ce79a7 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a408bf94-5203-4257-a373-d260bcd68fad phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a753ecd7-32a8-4104-9840-188210308ef1 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:6a2a28be-3ee8-4693-a6f8-24a37eea8d56 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:00610ccc-0859-434b-9584-6f6e0708f835 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:053a02fb-f4f9-4601-9627-b0f4110c5eb8 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:a34f9304-e57a-41cd-a334-02b65db60d67 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7a69dfa5-ac61-458f-b064-cc6e25c27571 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9dbbec2e-eb6a-495e-ba1d-ce4ee9dd8aac phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:65147efa-0d79-4306-9938-664724586a82 phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:58cbdb6f-c24b-4e84-9c6b-33bed78c55fb phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:858fdb28-158c-423e-85bc-ff0e82877a68 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ec17680c-7b47-45b9-921f-ae64ef92f070 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:50003b10-ebb2-4edb-9648-bcacd44fb10a phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:66cc28dc-e53c-45e6-9bbd-983d223055f6 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:38ec47b1-1bd8-42e0-9c35-63b8ee4b3dbb phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9e8f07e5-bbc2-4f52-978e-5188d79ba385 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:f836bd11-aeac-4b69-a888-8371020677da phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9447c4f4-3bba-4d6d-99a6-c4c4c3a5984f phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:055798e2-4e4d-4351-80d3-c9b5487b3765 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:eca206b9-0796-4a50-a094-33eb37d9c557 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:d7ccb050-56d4-4769-bdab-bac0edebd3bd phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:9d23a78f-b6a8-4d09-bfe0-2fcef0399e9d phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b1d30118-7dfa-4f45-8e60-1fb1a5c3bb55 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:353adebc-cdde-49d6-8a39-d4a92cf1035d phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:77fcd7b8-f08e-4323-85a6-7e9010ed369c phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3e1d96b9-2a22-4d30-880f-254616783fd5 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:df251c22-93ae-45ec-8435-67ef7a03f401 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:950c32fb-f4b7-444e-89f4-f764bb1b2339 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f0324425-6aa7-41c2-b26f-80b9bc5daaa7 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:b7dff534-8d5a-4038-a473-100f40f029d9 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:97367883-8c99-4832-b8ba-1cb7d6e3f570 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4004b777-aa72-4267-883a-8ea27789c091 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:1ca36d01-f898-424e-b266-9b2afea2b90f phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:254a59be-1b68-4616-aa9d-c1500e27838e phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:229b1bb0-b1e3-4a36-a1b7-e122a5a18ff8 phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:57cce7dd-93de-46da-80ac-9a5897d7c09e phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:abc7a591-854f-42fc-8acf-a7edc74a4a23 phenopacket.store:KDM6A.PMID_33674768_Patient_44_This_study biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:ef2fa706-2d7c-4e2d-8f86-eb43b8078839 phenopacket.store:KDM6A.PMID_33674768_Patient_44_This_study biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:1b36a3e3-7930-4720-af30-329713fae079 phenopacket.store:KDM6A.PMID_33674768_Patient_44_This_study biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:94b9ad31-e404-472c-ad44-a710cfcca0ac phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:dd984cfa-dc39-48d8-9f32-a321ab738e37 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:10d013c5-843f-45df-bce8-9fe81ae9ca89 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:c585b95c-c489-4d6f-bb4b-31a2adc62e63 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:71847b52-27da-42e5-986c-3e4711a72aa4 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:56759011-ab04-48a1-9221-d6f1b3169d63 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:edb4495f-8cd6-44c4-bad9-92c6e3031ae5 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:05a58daa-0748-4980-89a6-5befdac39036 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:8e76068b-b596-4314-802a-836fe730f339 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:31e33600-4fa9-4f38-9c52-22b457a6c167 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:a5f71dce-c0d9-4f62-a582-ec7cfb13720b phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:6a332bfc-ed0b-41c0-b93e-70f7b873c4f9 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30509212 uuid:4f85f1f4-8c35-4055-9d28-4f20a51c3c55 phenopacket.store:KDM6A.PMID_30509212_male biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30509212 uuid:e1cfd8a2-90c4-40c4-9636-3551d43a26dc phenopacket.store:KDM6A.PMID_30509212_male biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30509212 uuid:2425e3b6-121b-4daf-85cd-fd52a9871195 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:953f2923-17ac-439c-b00e-9285ed01a991 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:6fbb87b3-57ef-49f5-bc75-56b2d59cf32a phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:9e0d89a3-1841-4b1b-b9c9-c8e7c3ea52e9 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:b9550642-0608-42e6-810b-df87df7923bf phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:8e4a27dc-cbd0-4ce8-86fe-4b4d32f754a8 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7771d693-12a9-4f7a-9db1-fbc221091da2 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:7b788adc-9fda-4a5c-a78e-51660bbe8c91 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:19e82179-9194-4b76-b458-8d8ffa2f571a phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:81d2aba2-7ce6-4bee-aad1-cdd15411ee25 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:2ede1e36-1a6a-4d0d-abf4-e35f4d6fe318 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:534c3881-bf97-4dc5-9339-69f3e063a7c8 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:870cc412-8e3b-42db-b9ff-503f4af0eda2 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33674768 uuid:1c1f6245-03d6-4682-a0f5-8a0cb500c455 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:57554910-898b-4b4f-98b7-789a2de3627b phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:83600487-c9af-480f-b7ca-513f77c5bf2b phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:7df1b51d-85b9-4a2c-bc71-738a359753dc phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:85501189-67b7-446b-b6bf-309dbe40a14b phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:26d94a3b-767f-4745-b4eb-57c67daf5b04 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:f66270e6-2c3f-41f6-86ef-b9a78fa7a5f6 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:afddfd6a-ad15-4529-aba4-41963a763613 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:deb80431-48bb-496f-947a-cb6aa68811f1 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:28bd71d9-98bd-4392-bb0a-2820f52aa050 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:c4609fe5-50ae-4c9f-8ad5-dc68c583f083 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:4239139c-e02a-4bd6-8ab7-65cf06fe81fd phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:5a18bf02-3aad-46c2-8b3e-7dc3a914b560 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:734b39c1-5d48-4e12-a63c-f0d503cbe8bf phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:2951f4f6-763f-4b1e-919a-89a8de1670f4 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:3730aec9-fa13-4166-ae4c-93ca8889a9c9 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:af182197-0099-4b76-a203-436f12aa3430 phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33674768 uuid:e5910a75-62d8-478d-8f8f-dace09acae3d phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_disease OMIM:300867 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:086280c7-c76b-44ec-9e87-1b7deb26a06f phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:has_gene HGNC:12637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33674768 uuid:84735cd1-2f32-4514-8310-beab5ef437a5 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d44b052a-c5d4-4ab8-908b-f97485591922 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fe9e95e6-690b-4788-a15b-3e4b004daec1 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b9d252a0-7971-42d4-8446-902c81112183 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0012384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6dd8fd6f-eb1f-4a27-b16b-b4cb6cfa6ea6 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:84bad16c-431d-4299-bf5c-d0151abd5d32 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b88f8244-6cdd-4d02-9558-97596c9f3681 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:81118ae9-b56e-4bfe-be67-192bfba24dae phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c0655917-1a09-43e9-a4a6-e0ff40c34c4d phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7bf745db-1195-4726-aa8e-0ad22836bb09 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:190e0322-b741-43e2-ac4b-23dd19bd626e phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f81231ce-8125-4a74-b91d-49501ce6d1d7 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9b83714d-5ad5-4e25-98e0-d72b008d663c phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6f228d73-e782-4f8c-91bc-531c10b6484b phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ad361890-d72c-44e1-b1af-f608d741beb2 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a888115b-6de9-4f1a-ad00-6d46ff2e43a8 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4012ef79-199f-4964-9b5d-4e27f4211d04 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9eff92b7-fb58-400b-98b6-80d0723e72cd phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a8a704f2-e429-44b3-be55-4f32c006c373 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7dfab380-007b-4f0d-b734-81fda8d921e0 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:25545cf6-aa01-4e46-abda-849efac76bf7 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:320deaf0-96df-4c3a-8c28-6f7d1db23aa1 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5fc57525-c4a4-4c84-b245-7e4d1f950fa2 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b7b8a66e-1602-4b0e-8cf6-3400b7f43c8d phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1cef2bbf-1bab-48f0-b7f4-789f3ff09907 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a8ee6425-cf2d-41df-b2f5-6801364764bf phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5764e386-3d7d-45af-bf9c-7e023a8aee17 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e32ce535-6b48-40e9-a9e3-6abeda167b15 phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:30a30c97-d647-4ff2-925b-126a8afb449f phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:a49fd219-dcae-48a3-8c49-fb92e4cc64da phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:52cfe35e-f662-4b9f-a94d-d6fb780a177d phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a0c21b5e-716e-4be8-b7fa-df5248d75ab7 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0033505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9090f7c3-de3a-4961-93d9-22d67bfe34e3 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9053e0c8-1e79-44df-a1aa-d54f5fb47bec phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9a3c734f-665b-4a89-a17a-200dd4b8c3d5 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f9809ac1-5e75-42d0-afbc-f212335d4e7e phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f602a413-1af2-4a7a-b06b-1eca4c614fdc phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:65698d33-a91e-4207-87fd-b2e901914f36 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ae346e99-be49-4ba4-8c15-a1dad945f7e0 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:939ccf06-56ce-484c-ad13-cc465a919c1f phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:adcc58e0-1732-4281-95d7-ffa38d00ebcb phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:665550e6-35dc-49ad-821d-2061d58e7855 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0025162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1582860e-7478-40f8-9999-b32fff3e956f phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:61552e05-938e-4b7a-a57a-497b7eedbe3e phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b21d792a-8b07-451a-a772-1cd4cd0f64b9 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:428ea3fb-0f91-456c-9f70-4be34f3a1d18 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2471d446-5d46-45b1-86c9-a2d978a86218 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a3161c5e-dad5-4f3f-94c1-0f6d1ef0167c phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9f377c47-91e1-4627-a19b-f287d694e667 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f56c6c86-d6f3-4fdd-a22c-66b9de32e55a phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9bd42f43-9fd0-4122-bb18-9bd27c4bc8c2 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:503d8dd7-e413-44d8-a3ea-575b78e38730 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:280d7ca6-b578-43dc-9378-3297564e50e5 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c2c8565f-c476-484f-b687-20b8180d24d2 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:88b76bd0-7d34-4a2d-b64d-7afc934f4211 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2ad212cb-3b80-49fc-a0c5-22f6f8506a85 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0644a55c-6ee8-474e-b799-6b5ee6d3f303 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:327841bb-07aa-45a6-83f1-0a250cc72020 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9401f9ca-ef13-4321-be05-b3bce4356592 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:df329392-f544-4ebb-bbdc-66a8e4be9305 phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:74f091a0-9906-4b36-a1ae-cd6513ce351a phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d6b3020f-62e9-4f93-989e-01911466bf6d phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:db7878bc-ce13-46d4-af01-7ea4adeb5f62 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c7f0c093-d11f-430f-b444-a621ece87176 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0011387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:16df776d-e38a-41f5-be60-2a7be664d569 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8e9ca926-8280-4ecf-ae5d-7e7d15659ad3 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3f6856cf-bc8e-4b1b-af17-a83b2f5bde62 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:397b451c-bb72-4e6c-a29a-333e79596218 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:621d5dce-dfc5-470b-84b8-41380ce51dca phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1dd77f54-c901-444c-ad09-3e378b360a42 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:abf9d0b1-5f66-4878-94b7-4461c13576e1 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3ba53dc8-4254-4d15-9b25-adec1de69d80 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cdc935fe-4ba9-4c16-b71f-9eb7e1d4548a phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0b7e8ae8-e5a1-4d73-9fe5-1bd2669465bb phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ddb8023b-a156-4b59-95e9-56a2b24a550e phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:20fe3386-3bb4-40eb-bc28-15f333b6a9d3 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9d4f951d-2741-4a17-b78b-d485c3eeb2a0 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3fda8097-0dcd-45f5-b4c6-33a024d75424 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c50165f8-a1c2-4037-ac9c-ab06cc4b5a35 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:840062b2-06af-4b91-8c17-352d696c2dc5 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b457a78b-4a6c-4434-a221-775ceeddb7e3 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cd930782-7c89-4561-b17a-5488db0ff0fe phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e2601b8d-d41f-4d40-a843-5051da4592d8 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b6400980-e409-4c11-baba-9a6fb78e68db phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:963da3cf-3b76-42be-bb91-caa5567a7911 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:6fbf32f6-1c57-422d-a303-ff3b12f2f377 phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:fa386167-b591-42d4-8ec0-6ca5175570b1 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6e6c3f87-78d5-4a42-8be8-b77ea74d8e8c phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:315f234b-2a65-4042-80b5-474dbf4192a8 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9a6a6f49-780c-44ae-9573-3f42c3058d34 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f1894209-ee6b-4662-80e7-afde80352769 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:83e54382-6277-4de0-8b9a-098ed447c0df phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ff6ad328-b2b3-486d-9903-140574ad2c8b phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3a692b7c-cd02-46e5-ba95-100fc959d238 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0461308d-f214-45db-b18e-2d4ab4725c74 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9cf0687f-b81a-40e2-acad-ba91b03b8a55 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:97ac9b1e-3aa7-4d31-adeb-2dfa98829f0f phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:19dd7284-d651-4d81-b7c9-9bee60823833 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b577f223-aace-4fb0-bf5c-e7a511bc98ad phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:297aa91b-4117-4d0d-ba5c-94978c6ef3d3 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:dff79ff3-d854-4a80-9004-c254da8a87c6 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eb5eaa2b-b992-4adb-962f-861ba8a49d71 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:53ee6236-0728-4017-ba1d-92cdd5abc738 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6483aea4-a12e-4a31-ac08-5bd224e4a45c phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:6f7ceedf-0906-42cf-97e9-aa4db86b5633 phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:f4138d19-ec2c-4090-af74-07f9ef9b51c4 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b53d41c5-e9f0-46d7-905a-ee9a6c31808f phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ebd08556-28bf-4642-a58c-954b0aa2ecfe phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a524737a-4bb7-476f-9dad-c1eba851da2e phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:234b777c-38e6-4218-bee4-fe2f430d05d3 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:87fd95d2-44e9-46f9-aef9-a4d9132569f6 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9d8ed033-f691-4702-a9a6-47de86602865 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:10f03ce8-608d-45c1-bf1d-dac6c36ac1d5 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c63b321e-7df2-4820-9c4b-188dfe887846 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9c677c44-2d2d-466f-996d-9aae4fd3f06e phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4dfca188-1869-4ef7-ad60-90059344b2ca phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:35d9b472-0f02-44b5-a493-cd395a311169 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aa57e69b-b3fd-4a56-8645-25a31ee1e7f3 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eeb27fea-3bbf-4cb1-ab0d-0edd508a0217 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4b035f80-acdd-42fe-9639-746ada36d7d2 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d473697f-8e9a-4113-b378-5bed92d625a9 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:461c18a6-f7bd-477d-9f48-97ada185a4e8 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:760c86b2-480f-4eb9-9196-c6588040d744 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:76079400-b5a8-4de6-ade2-3a60a679a72b phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bfbff733-40db-498e-a309-233b0a207d90 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:366ee30b-ce3e-49f0-91e1-e64b947da447 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d4b585ae-8526-44a4-a2e9-0470a94c2d41 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9dd112a2-ad90-4be0-a43f-6232b1716837 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e36b6149-d617-4a1d-b699-af1269f34b32 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:feebd3a7-d25c-4e9f-b706-94a9065e318f phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5ffea4ee-337a-4ded-a8ac-809a358020da phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bd7eb4ce-ff80-4d58-acb5-b796a6f5cc61 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9e43c4e-140f-4332-be77-44d3fd75da33 phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:85e71caf-2a3c-4054-b34d-d2743070c55e phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d48893b3-49c6-4405-a56a-02625e518006 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6ca6a9e5-d3be-49a2-9cee-4a41a9c95dee phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:856b3e38-1a6c-4695-9d0d-a82b33106ed8 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:024f16f3-0474-43eb-b50b-f616ad52227c phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:60a4ea6c-ac17-4ef8-8f73-deac67dbc700 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:00e095f7-4b73-4dde-b274-985c0467d0b3 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bd66f49b-5b43-4eeb-bd54-c780f5556faa phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5722fbdf-feda-4f0c-ba4f-d75863ea3647 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cce3da5a-a270-4c0b-9c95-6e37958f0b16 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c3322a7a-db26-45d3-956c-49a1e3ff1ffc phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1af2baa0-7204-4e8c-884d-11e53f5e9f1f phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:43419c79-ea15-408f-a829-68ed3a2cfab3 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:089d556b-6f80-4e04-a3bc-30643b7f17ae phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6eb5f57a-41e1-408a-9e79-8d92fa82d957 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:19824f7c-877a-4e99-94ac-488338219e73 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:28e19196-b43d-4e76-9273-ab29232c7937 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8e81b319-66bf-4c85-9de2-a9375963ebfa phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b94f0446-5d6d-4c6d-92e3-cbd63a2f2d04 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b85729c3-1b5f-4266-8895-23fbab71db87 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2200960b-e423-48a1-8c4f-19d59f4bbc01 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7ac4bb0c-a7bc-4331-a5a7-86f75bb9a06a phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:30a706fc-72b8-4ac2-9279-c3245b2e3928 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e08608b6-37e3-4ae1-ae01-d5f8933e104c phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:200ec1e9-48a5-439a-a6a0-4c6d8d850ca5 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c7652fe2-f4c6-405e-b6ab-5c9dcad0dd4c phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:83155ed4-49e7-4133-8190-265fd42f838b phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:af0e053e-d45d-43cc-8bf3-52c0109252e4 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4b5dcb53-2041-4b07-b0d4-e31c81b69991 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d6970a4f-b723-4b34-bbb2-b973fc6aaeee phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ba35b696-0e0b-4992-a57b-74e63632519a phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ffb72b11-1d06-479d-ae00-8ed2597dd0ce phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:9480f917-9c48-4b94-9319-e9a250e54127 phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:bbd24828-e392-4ddf-9834-a2efa39aa950 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:98eed90f-8812-442d-8536-e5ba117a678a phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0ba49954-b78d-4291-811b-3f118fbc9fc7 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fbad786b-4310-4d93-bc48-b32c63bd984a phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b28150c0-59f0-4606-8419-8dc8cd1a785e phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ae13e0dd-7ff0-4fbc-b5b7-135047bba501 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:67fa8e6a-c3cb-4c03-b12b-6b12043ffcc2 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d12c3b1d-6626-4497-b191-85da88a6069e phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0005580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7c0c2f42-0508-4a90-b34d-1e1699dc5123 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ed6318e2-feae-4511-945d-8ccfb3930185 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7c6cc41e-7f15-4481-833c-113b6fdfa1ca phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:68e86bea-74c0-49b0-8ee1-4c52151bba31 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2d8a085d-e7da-430b-81ef-f6b4a38d1ad0 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0d6c08dd-6a3f-432b-b200-1aab5d13e36a phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4172a60a-c9f5-499a-a744-f16850a5f40d phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ee34c3e5-a7bc-4168-8885-ec39a3828068 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7ca36276-31eb-41e9-bc2f-b7c80e17b545 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:983cb9a0-d1b9-46b8-bd2c-1e1a3b50872d phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:378f9b00-9fab-4549-bf8d-7fe0a5d255ce phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e98b99cf-baba-43b4-901b-18c27c32d4c1 phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:053e5b24-f318-49ad-9cc4-606b56e78dcb phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a7b4984c-e138-460f-b08c-0157693a9deb phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d3f9d468-4f10-45d7-b214-70879536de5b phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:1107cf37-43fb-4595-ba6f-f43c788f4393 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:12f8ae42-de06-4908-8965-caa53752893d phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:945caad6-0f59-4701-89a3-bcb280d9485b phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0011407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:88f6b742-af0b-460d-bd62-eeaa0fe99721 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:448e1fab-13d7-495d-bb34-d6b42d6b62bb phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b17895c1-db01-4202-98c8-2f1f361812ea phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0011408 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:dff570fa-f6fd-41a2-9947-a8c3a4da3b1e phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c46ac54c-993c-47f6-8fa6-8c99dbf1c6af phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:db9e754a-1e2a-4ebd-81f4-8be054de4cc9 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:736d9394-2836-4392-9b18-74abca1349c3 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b1e1e3a2-7a86-4b86-bc7c-625d1d701d6a phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:22fb4d3b-6601-4ee4-aa4b-8f1ed6647ca0 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:75f49912-b6bd-45a8-aa52-2b8646238753 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9f93a7e0-8a48-44dd-8d4d-ae735d701c52 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9c6668b-4acc-4f5d-aa1b-f523f4a181d2 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:29d3212e-1c48-4458-9529-28e3337005df phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6d7aaf18-1854-4a47-b168-ca13c97006a3 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c53ca7b0-58de-4d26-803d-4a5d7ba53b4a phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cc5a5175-14e2-4c62-8e18-84e48f4edd80 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:68a54918-b5a5-423b-b739-64ac96469799 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ea9602f8-d4de-4ca7-a71f-20e9d8b59473 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d8011814-1da2-47d6-8a8d-b6ff7c30e10a phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4ffa6968-7c7f-4001-a38e-c9d005582c45 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b1afa0ba-9738-40ab-8dd0-609c096f4c19 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:97dad4cc-0510-472d-aacb-a404cc6d0fe1 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9f4f71ac-714d-4d56-82fc-3e97c53487c8 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a21845dc-f0ac-418d-9eee-448ec68c60ef phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:dba03e82-1657-4011-bb77-2eb8ba1a58d8 phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:2a9666f7-9b1d-48a7-8aba-26707b865a20 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6a911245-bd9c-488b-ad5d-d472e4f6e98e phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5fa65794-2079-432e-a490-6fd4280b80ad phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:18eb00a6-a25b-44c5-955b-73c1a6d9d961 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:648a62c3-b340-4b3b-a1d7-6248b67bdd80 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2370a4de-2f6e-4de4-9f18-5dd94a90ee29 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5b280fd7-8287-49f5-9266-207082ff76e1 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1008ca9b-a885-436e-95a3-c73367852bc1 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5ef041c5-9095-4e07-8510-5a4f5f4ec339 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f8cee604-1c58-408f-8c57-f21fff35df5e phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:de83f9c1-6030-43e3-8c3b-5fa3021cc972 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7a8c6b37-e94b-4420-9be1-f7db673aa054 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9e66958-e8c1-4746-828c-b1041f6277e5 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c4f3c52f-4f0a-423a-a0af-46fb4dace3c5 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c72a8f71-91a9-4ca0-9a97-88826ec9fea4 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:285c3580-288a-431b-b554-3b155b3e2ec2 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:434cfb58-045c-4bd8-872b-f55c9e9ae064 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f0f5bc44-ce88-4a4b-a62f-191198ac9156 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8b14caf2-0148-4633-92b8-38c8ecb6cb95 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c1cda556-8ebd-4716-af85-8a12803f9768 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ed77781c-095b-4176-bb00-be7057c077c2 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e48a64b1-05eb-46d1-aa1e-6be977821205 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c69fd5a2-f028-45ae-810e-9c1cb02cfbe6 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:98bf8dec-74de-458e-bb9c-4810ab4fef9a phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:22f8fc6d-aa4b-4c08-8d3f-4fb5497a7c67 phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:af8b9366-98bb-4caa-871b-bc0cbac31cab phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f8f81a26-132c-464a-8e65-4a5709c7618d phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:39bd2dcf-af11-4aa8-992a-43c8ec371ae8 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7ee4a506-6949-475f-8d55-4787d889960f phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d2858a8b-151e-43d0-92ac-deae3695fab7 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:282e12f0-37e1-47ab-b4f8-b241449885ab phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bfb74365-b2b3-49bd-82cf-0d6a75eb2cb6 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6e413878-c331-46ea-9f02-ee0d96278b81 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:acc8a229-de52-4f43-a87d-61aecdef6310 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c1915b66-8fb6-4a09-a0f1-d78c72d98310 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:75315b4f-cc7c-4bda-8456-3ea63b44d425 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1019be4e-59aa-4b63-95ba-8b02848c8367 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:526bad5a-d3c1-47bb-bd1c-bcb6e41dd5af phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:70ca6028-b9df-43a4-a81b-d4ccae4936e1 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4f11a48b-47ef-4221-b05f-033ba48afa1f phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0007015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:01166a36-66f5-4514-ba9b-58586309ae39 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:43bd8754-1391-4bc6-969c-629c0580aeed phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7c7372a6-6b53-422d-887d-a19f48a966db phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e4612775-f2e4-420a-a230-0dc36d96f2af phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:46190832-44bd-4684-a939-cc57fa20ba29 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9ccd576-0f5f-4e92-803f-275f0654cb1e phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5951ffb8-01b4-4f63-aa51-442a66f11998 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ba653cdc-6697-4cd3-a69d-a0f99b8142d3 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d7c96e2f-60d6-4c57-a91c-070601de69aa phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:52401814-8e7d-4882-9716-c7da298e850d phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9f6d155-eb6f-487c-bdb5-216bec3a66e4 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:919e706a-5638-441f-b9f0-da4d0a144ef5 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8094e7cc-ccf7-4317-9e7d-7f02852da6f5 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:79ceb36d-b0c3-4ad9-9412-3f5ee568c0f0 phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3fd4b5ed-782e-4961-a5f2-ae6014a6c30d phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cfebc76c-ccad-44fa-b9b8-2acb339e42de phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:e0df4068-0e94-40a7-8f8d-ac727452c3ea phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:65cd8e88-1db2-4ddf-a581-9997d036f476 phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:09f463ba-6158-4ca2-9711-f11c503443c4 phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c929e4ea-6ed0-4665-9a8f-f94d9302130d phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:479c15f3-e67f-43e1-8155-c792262642ba phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:156fb267-d0ad-4978-ab86-b142bf725641 phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2f48df72-a434-4e73-8c85-7bd4ce6b8181 phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a63267ce-70a3-4064-9565-7776a91a776d phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:30701da7-262a-4a1f-a89d-c0dfbf73ceb9 phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e871f1ec-2664-4895-8bec-12e780159214 phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bd66e090-e945-4c8a-8d99-bab3063b997d phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:530ccc47-0a88-49ed-8aff-6500af2d4d9f phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:672abc49-a1f7-4182-9a8e-55544a7d04dd phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:67e9752e-ab71-4df0-ad55-ed96383c774c phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:451782bc-3a8b-47a1-a6b4-3466566cfccb phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:631ca9c8-7813-4959-af47-e4365914c733 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:42321b80-59fe-48bf-ba55-06c3977c2920 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0011412 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e042cf83-2450-4793-8947-506bcd9c5b29 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e9886d5a-b60d-4999-843a-3b0c0f2b9cca phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bf5e2639-43b6-473c-8fa2-82f6499f865e phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eaf76808-cdb7-4269-843a-63cac8dc1949 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f3cabd52-e07d-4d89-a65b-88e1753ed967 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ec4ce759-4c15-40a7-bd79-0a6432224de4 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e4f092ee-57c8-4d25-9b25-d38b1aba73bc phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:27523b45-96ef-4df0-b90d-6e0fb4a14fe7 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:19cd4f9c-aaaf-4995-a18f-37d0ff82ffd2 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d41553da-1ece-47c3-9e8f-03fc6ceabf9c phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:67491abd-a0ad-4163-b3d6-575529c3720d phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5ed2017b-48ab-4c65-99c1-8f6814ee64ee phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:acb47798-5972-4593-bcc7-40f8afd183b6 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bba8e21a-2694-4c61-9e3d-b2d6e17b5a61 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:57f4ba39-949f-4313-90dd-75b12dcbccc9 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e6216b80-4aa0-48f8-b2ac-a33b73b8981b phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f95a249c-24c2-41ef-aff1-2b51c41df44c phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2396ab14-b8a1-4440-aa86-3817a4405971 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:56848d4c-9b94-4bee-89c3-c506910cdf72 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:91fbb278-a084-42ab-a258-2703a71eb524 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:338b0eb7-969a-474c-8c5a-660d06830f25 phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:e81c7ba8-49f5-4ea8-96bc-b9b1460498dc phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:fec10f30-c475-4e6b-bcbe-bd83ddbe9bef phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1bf68c0b-6aa1-437a-8259-62d2bb4065a3 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:970f2da9-e79a-46d1-bc60-46ed41399d8b phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3f1312ed-9f3e-4d91-920f-fbfbc0c1cb8d phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:79659218-51fc-4aa7-bdf5-2c1a27a4a6e3 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:13d2177b-49eb-4052-9729-a2651359973a phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:15e73b52-3032-4829-babc-7d7c96d480e1 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0b9d3074-e3b5-40e3-a002-a2dd9fd1259d phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:68109cf6-433b-49e5-9976-21943d6dd5ae phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:646d4cd6-a00b-4ad4-8d70-ce9e2ad402b5 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0200021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:82d744c1-3566-407a-81c0-12e30495316b phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7d299c15-319e-4ea3-a20e-06b091aba361 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:19341ba5-f335-46a2-bdc4-f8d1aa742a6e phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:40cf584f-da8f-4879-a36f-21ef6abc26a7 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:db2fefc6-0ef6-422a-abd8-7b5c8e2fd3ef phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b0dd05d0-e028-4e58-afff-a7d6f1ee41ed phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5b53ce45-3311-4fd2-8f6e-a32915d9b1cc phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f1595279-5c98-42f2-bf41-ad80bbcfdd5f phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9ab303a-d920-4580-a945-227c4a81273f phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ae9da723-c989-4390-bbbf-dfbdacff66f0 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:13eb4780-78b6-4994-878c-bac91b7e6726 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ce3947a9-7caf-44c6-957e-bdf724aa3ff9 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:26206d2b-d825-4285-8074-0c00bb1568ee phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4b8e0017-a67c-418f-9741-e080a843cc78 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0b9ec6eb-445b-4214-a73f-fb5f1d76b4c2 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:abc47652-b5c9-499e-9ba7-9a0dd9f63c3e phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fcb6ee2c-199b-4653-996f-551e8147d015 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ee5bcf81-24e6-4c5e-805c-e8a8ac4879f2 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7e6cf022-e3bc-4ba2-9599-f7f5dc8799dc phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1bca069b-9663-43e2-addf-576af4e4bede phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c876464a-ef4a-4646-8230-521548a15c45 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f635cab7-94da-4e11-9782-30930115cff0 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:f5105762-d3e2-401b-ac86-a29dde07fe78 phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:48a53d7b-e74d-430e-bc59-e35d17d518c7 phenopacket.store:KDM6B.PMID_37196654_Individual_54_(SSC_13675.p1) biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:52c4cc3d-c529-457b-a0ca-4506e4d5bfc0 phenopacket.store:KDM6B.PMID_37196654_Individual_54_(SSC_13675.p1) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c4ec72a7-9a88-4ce4-acc0-a5431931121e phenopacket.store:KDM6B.PMID_37196654_Individual_54_(SSC_13675.p1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:179af930-21f8-4998-803f-c9726363030e phenopacket.store:KDM6B.PMID_37196654_Individual_54_(SSC_13675.p1) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:03d10c76-111f-4cf7-a9c9-8a4590d14566 phenopacket.store:KDM6B.PMID_37196654_Individual_54_(SSC_13675.p1) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:fc09c4ea-6db4-4005-8a7a-e3693cd0cfe7 phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:51419415-9161-43fb-a587-30f0bf94c2d5 phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:697d17dc-ab13-4a0e-a799-32f1a60b09d5 phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cd56cc28-e051-4bcd-9216-130a1b3dae37 phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cd69d6a1-47af-4716-83a2-00f03b67e4ba phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9b43ad73-d34f-42ff-9385-e8578c67f865 phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:705200b9-2614-41a3-ad3a-4b5d70a99f5e phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:ebe8965b-2942-4ca0-b980-a0121459f4ed phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d5c670e1-883e-4a69-b703-564dcf4844d1 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4a625bb4-9974-4754-b0d8-0883cd7b8542 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:85cc7498-39e3-487b-a06d-985b1038e1c6 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bc80a5d8-c7eb-49c6-8a38-beeef5ff7aab phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b2c8eb35-4070-4754-a765-0488a94b789f phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6179228c-595d-43f8-8aad-f3ceb2b2d00b phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7e92cadc-21b5-4c1c-8e6f-37e15c13de5d phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:64f22da0-47a3-4bc7-9d82-315e45936c1d phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b64cb52f-3b0b-45a9-adad-690dd07799bc phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:41d437a4-4f64-4c0d-884b-5002990606ab phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:39f86237-d4ff-4edf-9ad6-59eab240990a phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d6ec36c6-8814-4999-b9c3-0343d112fc80 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:89bd379a-f6d8-470d-8ea3-2b0af8e607c7 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:de8704e2-198f-4b0e-989f-616cab6ba834 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eefdf994-d323-4acf-890c-895eebe73531 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1b999f4c-6980-4010-b519-36533a4e31ac phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bf3e89b5-ec13-466c-867a-ae7de1f94f09 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aba630da-b23f-4e91-b28e-0c572a585206 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:574c6add-b9a4-4258-9d81-01d4fe58d0ff phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:821e21c1-711d-47de-b61c-23567778e331 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ba6fe6ea-7769-4ada-aeff-5c5823189860 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3a959039-6ff3-4de3-9085-1fbb456b9bc4 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:707612b4-aca6-4a08-b28f-25f95e34f250 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eaa78b6b-69e7-4160-97f6-3a4473ba5ab9 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6e5ad6c1-dcc0-438f-b9c1-3673e5406dad phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1d6d9d2b-140c-4a68-9d76-4fdbf366e565 phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c7e2be2f-bbc1-4bf5-b829-e4a84f38802b phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5ca4082e-da96-4fb7-aa0b-2cfee9d8ce5a phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f86279c1-e491-4ee5-b130-5e3c7676477c phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:ae10cf4d-6fe1-4c20-ae43-f1c07abfe91d phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b9916390-8d30-4654-b945-15f09f398ade phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4fa30c38-1311-4b3f-9dc5-2b4ca54fb34b phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:19a81468-e404-4761-a642-b55ad03aa701 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cafaf448-dd0f-4dc5-9932-103ca3bb311d phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:66bc390b-96e7-450e-bbdb-f3d4b07d1c44 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:384b5301-b350-4e69-94ad-4bae8ac370e8 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:865ac570-9444-48b6-93a4-20048d678dcf phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ff0631a8-a503-4660-967b-da39979be6a7 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:adcbfe95-8440-4535-bc0a-a1d16ba1292d phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e881b402-2686-4438-8f2f-9d22e80b0ed5 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0100759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3fd71c07-2189-4f0d-b6e3-5c1db2ba8b19 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fe0862f3-9fac-4758-ae8b-3ce4a6e2b71f phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:50168a75-66b6-4f59-b175-0f26793a6b31 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:873e1739-74d3-4e56-add4-6dd02a76770a phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ec0a164a-08b2-42c8-88c4-cbed04f319ac phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:44d7fb60-5c9f-47e7-a35f-11b3cc98a2c0 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7c942a69-47e5-4932-a70c-773956cebeb4 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:23ae0f55-12c3-467e-a2f8-bd0e9d0fab38 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b9dafaf9-3d99-4578-af8b-ca82a4dc3679 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dfe876bd-9f16-4cb8-8496-0e467d4fe9f2 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:df001153-db1b-4676-a08a-17894190180f phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cae55396-9bda-43f4-af49-0b0918bf6a3e phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:08093fbd-13d1-4a5a-bc15-05c0e0bb16ff phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7cf7492d-3758-4b78-a7f8-3be76bad0e74 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:816227aa-672b-474a-87c1-0cbffda22bae phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fa4c6520-23b3-4705-9def-21f24e3b4da9 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e6b1dbfa-7879-42d4-ba0c-654908652bd5 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5628bdf4-0c11-4bbf-8ba5-7715fe0c48c7 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a4cab731-b3af-4043-9c14-ec97012a35a0 phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:38c15f25-f717-4750-80b4-b39a42d3982a phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:0d1742a5-4632-48dd-b574-a90f179a3cf8 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e0874ca4-b5a0-4056-883a-944f030256aa phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cae44e1f-b550-4f15-8b59-1bf4e00c902a phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0012433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:204007c5-c047-4728-9164-15179feeba97 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:68f760b5-8dcd-4e7c-9185-28291f7438b6 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7ff32d56-adbf-400c-8fc9-c7a90d4e0b2b phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ad1fc094-05c4-4a0f-8f9d-ba47f6d80ebd phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f9080a49-86ec-444d-9924-f455e7b7a8c3 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bb99755f-8ceb-4c85-88b1-385fb30525c5 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ce9cc33e-522d-499a-849d-111054de6fae phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5109fc60-0fa1-4551-8bb1-d2885ae0da5b phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9a8a94d-0b97-4a29-952d-a01857113693 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6c727b17-3026-4913-a8ab-40b50a7a5dd9 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7538abaa-3b66-473e-9bd4-c9f3bf8085f8 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:61ab2959-abab-44c6-b277-78a206521288 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e636606b-72a4-461e-ae13-37c9d1d924f3 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:07219b3d-14cc-4e04-8805-1226bbacac10 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1f7b5ebf-1a86-4d05-96fe-b4cf177afc36 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:012cab00-5dd6-4287-83e5-da929ef6be44 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dd663ac3-c396-45f6-a09b-10437b3fdb3a phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dee3b3b4-1507-4540-a302-c2b36fe011b5 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:265ed3bf-7ed3-4723-afb6-3de5445f6a89 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c7a9c8a4-ca3b-421e-be76-1bbf79a452ea phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:01047d0e-c641-48da-b584-77888df0c73d phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e971a8fb-fd6a-46c4-943a-c018dc1bfc20 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:90901e0f-4dd5-4cf1-94e0-2d5420005147 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7005a683-326e-44f9-9724-23325ab07c08 phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:3591c6f5-51cb-486d-b451-fbe217d71683 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d16780c4-17ac-4eea-9f11-ef466840b5c6 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:99b88e50-cdc7-44b4-80dc-4cd179e8e57a phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2e2434f9-00e1-40a6-8a8a-70d8789d411b phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0f8fca55-4f54-4975-a1ab-d1157d777d00 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9cd1e08e-e4df-4a90-b2ad-762f9eefa522 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fa8a42f8-eaab-4b19-9849-0c3f1eb0139f phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b6a8f79d-36f8-4f29-9757-2bdba495c22c phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d5ba244f-da5e-46b7-bbf5-58832d3914bf phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c7da05c2-b787-45fe-99d3-80283ccc8da3 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c8d8a2d3-a161-4f4d-8a83-7ee20617138f phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6f9b2241-fbd5-44b2-81e8-f8d260e4f3c5 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a6026cc5-831e-43a4-93f7-675e4afbffa1 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:202ba6b9-34ab-4e47-9169-19d74f3d47bf phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:09868043-00cf-4ee4-9f99-6e5d06639e8b phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7913557a-04e8-4e32-8a15-efd4d77e51fe phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:820f69a1-c8ac-4984-a1e3-e382feea7045 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:36174351-a9d1-4de2-ab6a-0193010e252e phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bb44596d-c496-4820-9cd5-6f588057894b phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4e730fdb-6f0b-42b2-b73c-8c4d10bf5c66 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:93b8b7df-b5ca-488d-936d-7fb4aa8a2863 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:38c5c96b-e961-4cd9-abbc-56080c1db319 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9a077e00-8027-4975-b940-23e1bba8ea44 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c2d3bc8c-a25a-4aad-b77d-e1c8d34ce7dc phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:41566c71-075f-40da-ad69-7bb38dc60c98 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c9495d2f-434a-4f26-b273-5f6193137486 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a301b0bf-c572-4e3d-9f0f-4a7bbfb654dc phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:79bf7f58-9b2f-4467-87dc-535681e25c72 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a1f65dcb-19d5-43d1-8d61-397232aeb283 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a6a4be5c-c8f5-40d5-abb9-d247f1a63806 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:005592ec-0d88-4bdd-be0f-e8a8c4a31249 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6e44afb4-7da7-426e-8cb1-cdc1c3226907 phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7e823103-5340-459b-81d7-fa44c80af24c phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:ae156ddb-f2e2-4d0f-99c2-9195e1af882f phenopacket.store:KDM6B.PMID_37196654_Individual_53_(SSC_11329.p1) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:41bdcf3f-e22e-4e8a-8ff7-c36b82d82f82 phenopacket.store:KDM6B.PMID_37196654_Individual_53_(SSC_11329.p1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7ab00747-cff0-440b-be57-9df0fa22b218 phenopacket.store:KDM6B.PMID_37196654_Individual_53_(SSC_11329.p1) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:1a346849-c5cb-41a7-851e-da6a62953d58 phenopacket.store:KDM6B.PMID_37196654_Individual_53_(SSC_11329.p1) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:76b71792-8281-4e9c-8c80-8d22a0a2bacb phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_phenotype HP:0002370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8a0a01e1-3a62-498e-8181-c9a33151227a phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:328ec03a-666f-42cb-92d5-c59ba82bc774 phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:95c33ce1-c286-4e3f-9846-a6b0795d7449 phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c9237cf8-fd3e-4da0-96ed-bbd0431cb79b phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:17ea3fd3-003a-4e55-b5a0-efa6883217d5 phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:016ac2a7-bb15-4baf-8d5f-3d70406ceabf phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:1032e91e-3202-47dd-aa85-3df2c34dea37 phenopacket.store:KDM6B.PMID_37196654_Individual_52_(SSC_12683.p1) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:656ee85c-6ffa-4f42-92de-6a90eff5916a phenopacket.store:KDM6B.PMID_37196654_Individual_52_(SSC_12683.p1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bc9e3112-4ae5-40a8-84b1-704b56b27570 phenopacket.store:KDM6B.PMID_37196654_Individual_52_(SSC_12683.p1) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d3999790-ec16-4df0-9419-7ab3b85943d2 phenopacket.store:KDM6B.PMID_37196654_Individual_52_(SSC_12683.p1) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b084a8dd-a1b0-4ec6-8aa7-73b8e3f05706 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:44510b3d-1764-41b5-a35f-10976ac055c5 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:db2c019a-0a6a-42b1-a236-bd2d99c96067 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5e107e73-609d-4c2a-8857-740c098f6982 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:59f26f47-ca1a-4291-9f67-bd1e021bf960 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0011413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a49fb8c6-3edd-489a-adf7-67fd87e2a48f phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:38d3395e-00d7-402c-b097-1306c559bb00 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a22267bf-f99e-4780-9789-a6b309057c1c phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:28881ed1-b9fa-42f9-8643-48d8bbba4af3 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:22779495-be84-43ff-9b77-fab611d8c677 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e67c3e44-25fd-40a1-a897-98ae5a8910e8 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0dec5476-27f3-4c83-ac6e-9144adbed4b2 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c59c9298-b2b1-473a-a924-7a88b3cf878b phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:92c7e8e0-b11a-4d96-a3b2-b19b9b649037 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b1bc86c8-27be-406c-bb02-31c9a0deb5e9 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c429eeb7-94ff-4544-8f57-aea76d037771 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:28ee7ba6-8751-4b80-9386-086e56cbe0ce phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:279d1f58-eaff-48e6-b000-afd88ef5958c phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1f1f03ed-2f36-4d0d-b297-45f67064355d phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d759ceff-7eee-4810-835c-82b7e88506d3 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a4a5248a-273d-4eef-abaa-5baa7af4f528 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7706f922-0111-4169-b6a8-5ca34ec12521 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:79610281-d84e-451a-91f9-ef6e0dc65943 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ed7677a3-d85f-4fde-8be7-aed21b3f7b6d phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:397db293-b0c8-4ba6-931f-ca5e8b320a0d phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d7902fce-5cbd-440f-b2dd-de53172471a5 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e8d962f0-4c00-4045-9d50-4a72283de417 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ba966cfb-f36e-4ba2-bf9d-c282c66be958 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f78f175a-4aa5-46cb-bd69-0f14ea60a4e7 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3a2ea96d-a0be-45ff-8da4-9e665c3f25f1 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:441b9316-71f2-4d85-9c9c-889876dd5535 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e63120d1-692f-4f1a-923e-51647e9d4f1a phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f78a56fc-3fb7-45f6-9db8-1917f74ff511 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:19bfca4e-270f-498c-9a8c-55625d0cb058 phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d908ec38-8a34-4312-9148-2a7613b99da9 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0174d58c-e370-4b9f-84c6-4cadbbdda138 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bcdeba94-9c61-44ef-9e2c-06f6de5da658 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2d7d48cc-ce07-4cf1-bf37-ded82ade08cd phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fde233cb-596e-4da5-946a-b8c5728393ca phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0006332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ba1ebd31-3b52-4ee9-b2c1-ea398810fbb4 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3c286a78-a952-4a7f-9ae3-b9dc7394c707 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:30c1b869-52ca-4fdf-a94a-86ee87a76aa9 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a3845667-bde3-4946-85fa-5771467bda08 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b2caa5a9-cd04-4f90-ae10-277ca1a12156 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bc5bc864-f48e-41c3-841e-f712ea071369 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3da54fac-586a-4c48-89cd-e44e7fba4199 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fe13be2e-2b9f-43b3-854d-cf4d13495a97 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d724fd9f-ff2a-4806-912d-6f2b0dd75fec phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b30eaf57-fe8a-4d35-a5f7-d3e769064c77 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6933e5eb-62a2-4938-8fc7-7058c290bec9 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:421beec4-827d-47a0-943d-16539b97edf1 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:15323a8b-0941-45cb-a6df-b5dc225a2ac2 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e3955842-7d70-47fc-a709-5223b8ae10bf phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5d31bf82-c1dc-44a0-876e-43819f32bd9f phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:89f517eb-af8c-40f8-8351-81c9a1c12c5e phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5c9e2ba6-31b2-4838-be66-c3bae25c1099 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f531fab5-2acd-4291-a297-4027c2a2b68e phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1c29f362-cc4c-4c37-96f9-a4d4baafb786 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c0de0efb-a84c-4357-b680-d5dd3a5dc899 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c1053ee6-4d0f-43a0-9c6d-ba4f0df7df55 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:86fc18e9-c2e0-45a5-938f-8f82b2049719 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:557342aa-5ce2-4369-b393-af14e3074304 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d31abf2f-fc0d-404e-bf42-8ba0caa17919 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9c01bdb9-583a-4942-ad08-5a6aeb3008a9 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:36c3a837-923b-4412-8b4a-cad22f8d3489 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:57286451-2c38-4d4e-a03c-59e5db34c662 phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:1dad17bc-0946-4638-862b-5f6f36dbcfd1 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c0e76103-025a-455a-b6c0-9bf3e36ef255 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:07f1b2db-5cfb-473b-b66a-6e4d0bd2f5f8 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ebf9548b-f337-4b87-8f2a-ddd3a5438d18 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93a3250d-447f-4b30-89bc-dfe6ebbb7c12 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0b3f01a7-9835-4b29-9c42-3b4edd246b9f phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:06989efc-c1de-45af-84c8-56a1a3f3bab8 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:76cd4331-e7f0-40c6-bb19-47d82b34a853 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8280624e-2d74-40d8-a096-c1e072778b4c phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:53002268-68e3-44a9-8bd6-1677ae2decc4 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:4abddf13-3a32-49db-9eee-929e5f8cd181 phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:a7c2b1ff-aff0-4390-a07b-fa011664d56b phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:56331c2e-fd9c-46af-ba66-5985111892db phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c58fea7d-bbe1-4ee8-ad7e-438f15fa6969 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:57a8d0b9-02cd-4d8e-9725-0c1d1490083d phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:55bb8b69-1c4d-4123-822b-00627f698a49 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:35dbb000-2178-4b01-bb37-cd012f90a15a phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0002949 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f3dc1147-18f9-4ad3-9f4d-b3811e796726 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b026c676-4146-4fc8-941e-94f7a030f975 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e7a99592-ee91-4d10-ac68-ab7b0f379494 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:126cf7a8-5d50-4639-9659-b72adba74e35 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5531d7bf-5548-4d53-b96c-d225f45d3d37 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:58009ac6-649d-4d09-b093-dd4619c78845 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:64ab80f0-238a-4576-be7b-dbec34f3b710 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:60c81eb2-4c4b-43c8-b5cf-dce4c30fc355 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bb30bfff-d95d-46a0-aed1-57c2f992dae2 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2bb8162e-84bb-481e-adde-c75c262a00c8 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4f10bd95-ffae-41a2-90b5-44e4a93287e0 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f4d9a450-790b-4f67-87c7-74e269b18758 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:384782aa-4ca8-4aa2-a22d-4835e2d74187 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:29ad700c-8a16-42ac-af79-816f581ffebd phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:287d1cf9-ec09-48f8-ab8b-6022bc3eed0e phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c1b25442-584a-4e07-9902-2973ee61e0e7 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:746f9ff2-ebae-460a-83bd-01854e99f2e2 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ee00a732-924d-4460-86c5-14de667cb5ed phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:56e46284-a9d3-4793-974f-30715fbee796 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:269f505a-de3e-4523-a9eb-0d1d6322d12f phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:af5b8703-cd01-4129-8038-b92ef101b5f7 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:51b13dde-97ea-4c38-b81d-724051fbe008 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:46fa43c8-4217-484c-b279-f51ed6079e98 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b1200763-c288-4f75-b594-50d60f863d03 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ccb02dce-dcef-4d93-b0ef-e32616f17315 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5cb4cc14-ebb7-4271-b646-079686a3d3b3 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:74543ee4-adc6-4f20-bd36-da07c15c16d8 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6593c9da-a356-4cd8-ad80-b5dd959cf95b phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0d9108f1-b600-426d-a5da-aabcd46101c2 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0acaf7a9-870a-4888-b3c1-bf5b36cadc21 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:29121521-6060-4eec-a457-1e28de866a61 phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7e16c680-12d4-41de-9038-0dd9c66e371b phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7b8c3364-d60f-4145-b59a-00e1bee2f90a phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0a852e7b-761b-4c9e-a518-67b89cb1e50e phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:30560d6a-0031-4489-a8e8-ef9de1c7c117 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b348ad71-6730-45a0-8d1e-34f41169c9ac phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7de30059-c591-4ae1-aba9-6db1dc3c7d50 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:878075db-90a0-4a75-b29e-cd48693a9917 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d17595f8-c5b4-4c45-afc6-d95e1fda2df7 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0e36546a-c85f-4b13-930d-45241efd1d7a phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:96e54125-246f-47de-bb34-366524c0162d phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3a5c5765-ce4e-4200-85ed-38f4c93f3489 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:53044487-dbe7-4673-8c43-bec171d63cd1 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d9ed39cb-efbf-454b-8024-e553893c2afa phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fbfb45d1-e914-4515-a1fe-f2afc550e9bb phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d15440a3-c953-4ef3-83a7-6296d0c696de phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0be79742-50af-4b32-bbc6-4e8dbd047c01 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:38507907-f3f5-4323-bfb4-3cc0e826a55a phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c4b8672c-124a-4fa4-9940-8049836d9273 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d794891f-bb62-47a4-9e5b-26b1e2b70e75 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:19a7b4b0-f4db-4ce3-bc44-0a44117b4411 phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:55a9a4f1-0bf5-4a28-89a8-7d98ed36ddc0 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1281529c-6138-4dd5-88c8-e048efd1e5fb phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2b5600e9-dd10-43cc-8f9d-fdbfef9d1e13 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:88c2d4c1-1908-437a-b5fa-62bd2b4a5639 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9f9d8ffa-437a-476d-bc12-7e8566809986 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:38d96bea-464d-41c4-b22f-b004a96c9a7e phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d441a9a5-3968-4331-8730-83b99bc98675 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:23237407-5a73-406d-9791-ef90b26bfd8e phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:600be439-9a5e-42fb-9d8c-9ffc1c8d31d0 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3152cfb3-8477-4ac1-a93c-5deb8451de18 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0008689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:75696783-49be-4703-b2a1-fdc13b154c9d phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:61352d8f-301d-4f59-87ef-0927742a30a0 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:44cb1514-c72b-48f8-9189-f020fbc3a7bc phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9acfa72d-496d-4e12-8bbd-3629dc8f135c phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:92465731-dc4f-4b9b-ba9a-eb37af2571c3 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:13c74032-9723-488d-bf5d-145766739d03 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8a84593c-c2ec-4d79-aa5e-7beaa9e56be2 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c651f5f5-7884-452b-b51a-8fd4d4c78eed phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bb0c57f8-bd74-42ef-9e68-4cc58f1e7044 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8354bbba-3366-43c6-8b9d-c0c54dbfc98f phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:154b83ce-6671-416a-8b89-d80bef922ef7 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a080ee6d-4f0b-459e-bb5f-2ebd1028f16b phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e8b0376f-6f3d-4d8e-8530-9bc6e762519f phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:167bce73-03ac-47f1-9084-57f2b8942924 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d47a57f1-68cf-4526-a81f-9e8092843721 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f0402fae-4202-464b-a63f-4a1e12a11b22 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:207d25ee-b490-4514-8654-6e6e0d8822f0 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a21afcb2-9dc2-4909-acbf-2e16e201abe4 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2f043f5b-4839-4deb-b43d-b1fe987ca9d5 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0a14b10b-352c-4a2d-85b8-aa35dad2e8d6 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:df05aa47-be16-490e-bb58-496fb72760b8 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:85274e45-24cc-48ce-9070-cc8c39729a37 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:46a20628-d168-4ead-899a-fd4d90f97f55 phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:06f34372-b701-4ae9-a5ec-8f6b97138886 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5b633060-07a4-41ae-8569-f62efba3f4a1 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d52e8776-e1c6-4d10-82c0-f076576234dc phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8f948e53-dc4a-4bc4-81ba-a8f258cb6987 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6fb4aa92-f286-49b2-8e58-d889383bc45c phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b411dcae-3131-4e54-bea2-012fb7c78d22 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b62f5b44-e6f2-49e4-acd8-ab4f8fd955dc phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5cf402d8-a33e-40d2-a881-adf991a0841b phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:35db35cb-c924-49e8-a8a9-418e6f5ac73b phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9cc19b0-11e6-45b5-a750-e1c2a696cf0b phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:39a9bc84-babc-42da-9b38-7da28b31ac72 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eb93059e-af4c-428b-8a85-431205f19d52 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:949653f0-2053-439c-a327-cbc09fcc7e48 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:469141c3-99c9-4b1f-ace6-746395265375 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9d997488-fd11-4c76-bbb1-5823560cf88c phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b54a762c-0978-4d57-90a4-ee0cd096cd8e phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7552562c-eaa8-4d04-b56a-9b1ef9e41db3 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a2c9653e-b82d-44c2-8461-0121ff65c942 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fc409182-070d-4fc6-af49-975733f6f85e phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e301d44b-3bc8-4a98-a0b0-a5aa3770b71f phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5178cec4-89ec-489a-bab7-f27527bfd795 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:373c00e4-6a64-4fee-a3b4-962b9bac2152 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:30bd97c7-2192-4a22-86a1-34a25dc01a4b phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:84286f91-f318-401f-a5ca-2fcb18b5b5c2 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:db798d28-fe24-4e87-84dd-2bc420d3fd4c phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7d0e574c-6397-4a07-a16b-3ec0c5e12144 phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:26d785cf-cfcb-4b66-9a01-ed175897e2e7 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:76e1e3a5-bec3-4699-a2a7-d6aed6230da3 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eb1ed167-aa36-443f-9dab-a0e53f36a9aa phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:55f76263-5e69-4149-9dac-b308619a480a phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:68b61d39-eb44-4e0c-84d7-4843b3f6aead phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:75c765af-d5e4-41d7-a6e7-43f67d1df192 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d0ec046d-4488-4f59-81cf-dc9f7db29e99 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:dd6cb611-0ce2-4288-b617-2f0ff4ec795d phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0760eb25-49ef-4537-8b70-27ac913fe922 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f6a5423d-480d-418a-a362-eaef03effa6f phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3e751517-46f6-443e-bfb4-aa1616139992 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f1fa07e9-6863-4010-8cf2-c7cb4615a247 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4d66b93d-1c0f-4946-b7d6-eab48f713013 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1f013c98-3743-467d-825f-96e46b8d6a8f phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:df61d6d3-07eb-4b55-9405-1551c2cfe023 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7cfc60ae-b54e-4a12-b816-2c9444be6935 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:788bf8c4-4e09-4e5f-94d0-fd05e11f9c75 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1c88254d-86fe-4bac-904e-076e96b0f083 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3c927c30-408a-48f7-973c-5c65ff70e5da phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7d5d59f2-74bd-4c32-adea-134b02b50d9d phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eb4e5b85-68d6-4f2c-b7fb-0a8a2096faef phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:070fca49-cbab-4714-a7b8-7bc5ef8d1fc7 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:af64df3d-073e-4e39-a7cd-9be5945b861b phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bebaac76-d57a-4ef6-a92b-6dbf65cdbe26 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4de72ad9-3fa9-40fc-ba69-5b9cbc929d3c phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:71ea15d1-1cf5-4bf3-a4c3-3ea63eea2dfb phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:17c8fab6-5cb5-45c5-89d0-f91ac3e62bb3 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:298ec57d-25d0-4a4b-85df-0354a7312d53 phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:bd40c3a2-fe67-44bf-8665-b91a977f6160 phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:836bc15f-9876-4845-a4fe-b72d08835841 phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:331b30a0-80b7-42a0-bff2-23c09b31916e phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2c098e9a-7cdf-49d6-9d91-86b9ad8f105f phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f7fc3c61-478d-411d-a0ec-bd452733e05f phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:a38f9327-2b8a-4fb3-9f65-48118028ac55 phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:82d49322-7375-4173-95c3-13bda8d1e1c4 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3957cd7d-86e1-44c4-9367-b5dedf464571 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0002677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:00f87c71-62c6-4ca7-bf27-a1955ff9a1ca phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b19b0ecb-adfa-4010-a4e1-13ca4002e361 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ed60f1f7-52a3-4515-b450-943d32dcc5c2 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:baa48898-981f-414c-b437-dd732a7291a3 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93d82686-0725-4f0a-b368-67b83bd8091f phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:38051566-5bb8-474d-9bb0-3f44636b9abd phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9cda5113-bdca-48ab-8528-da08a6a51d30 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:db94e23e-7614-4c48-9a8f-6306ff2655f9 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e424497a-507e-4a1c-87c5-8f7e0caa1d52 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d776f862-2a39-4d8c-bee5-ea0f020070a0 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0002691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7e5b42a8-29e8-4a69-b481-d006cb64a29b phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c3cbeba6-fc66-47de-8c55-8a7b68ad7366 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6de6f0f8-701e-46eb-a4a2-232b2e601b8f phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ace93648-014a-46a6-ad31-596eb516dda7 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2f6e4fb2-6d7a-40e5-b646-b909f0b38338 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:96a816a9-7931-4605-ab34-1829f8146183 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f6c77e42-01ec-4cd3-8dba-75323704ad4a phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:814c69ef-2975-40ad-9cbb-fa46cf719a4d phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:64013b57-c3cf-448a-85aa-43dc07572eea phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:99254b27-caa9-4021-b6e5-7977e2263f27 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6a9d63eb-86b6-4d65-b23e-17f9bc811f65 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bacf3f2d-1791-47f7-929d-39bc24a33348 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:96c88668-df27-4ffa-bf28-fd19024c1334 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2050458e-5cc9-49be-89bc-c38c31f0dce2 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8bf30383-ad8e-43fc-b5bb-f3c5865172f4 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f800aae1-a786-417b-976b-5e18b7de6af8 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7097cd91-e76e-4a75-982d-f0c89ac96428 phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:801f4bad-1c07-484b-946e-e705e4f1f36e phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:88137e71-2cb6-43a5-af69-379d6b3e2af4 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:080ae062-2885-480f-8160-f0cc1b23d405 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:459d5f09-59a2-467c-afca-cc278a5707b4 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d9094250-8e9e-4baf-8f7d-ad9c47828e17 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:dcd17aa9-362d-40cd-83f0-e8d244a1ad25 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6da374f7-46f5-4e97-a0a7-1c50df757fff phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a796a0fc-262e-496b-bf88-8d29894e0def phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:db7a3a9a-9e08-4aa7-9f9f-ffe5e3c1f224 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a351612a-c148-4175-9c08-d5756101da20 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2d901675-37d5-42f1-9717-4635bdb9faff phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1517af21-4c14-4288-93ae-cd2f4d309adf phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6104c8cb-be15-4971-b4ea-cc0cdf0a997e phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3482b04c-77c0-40a8-b7dd-71366d0c5dff phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:965f1d01-a836-4b1f-baa1-7d2e731a83c3 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:82f68807-7855-462f-abac-fecc475bcb8c phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:548ff995-395c-4e8b-a77d-518f17b4c7b6 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:17d8c929-8dff-4d9c-ab54-486c7d789622 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:95f43e58-8dc5-459f-88ee-6b4a8360be76 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ed628bb9-ae05-489c-b00a-cc44012170d9 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fa3fa2f0-efa0-48f7-972a-b95c36f6b51c phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ebedcfee-985e-4632-9acf-a4b4bbbd7b65 phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:60a7cf64-9ecc-462b-9159-5f49b8df8e3b phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:5e2b235d-4a74-4ed3-829d-53a50c12e24a phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f54cbc70-04fb-468e-bd74-4adac77c90b5 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6850cc26-a7cf-4f32-8654-67aa7fb96e29 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:44d4c0f0-ae4a-4369-98fc-d09c520db537 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d306ed87-10df-468b-abce-8df3ef0c6d45 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:06a4be85-30ee-45ac-b511-3fd893796e07 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1ab48134-1d0f-4bac-a936-64135e3ae1da phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c32af1d3-a344-47ce-80ae-7c21028ca001 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:65776361-4e84-4a6b-843f-9de78eaa6a02 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:87bd825f-5e95-4171-9efe-04f5fb46c6a2 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e63fde64-aec6-4f6d-8040-c089732facb4 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:f6f3d9b8-e7df-4e5a-b78e-a3cc1794f1c8 phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:25b54501-2f0e-4e07-a2b9-8b94de246616 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0034782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:778d2bde-f16c-4635-a778-db021023d9f3 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:233f9d59-3c47-4b9b-b527-fde07fa6899b phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:789ff747-6538-4422-ba99-930fca50c169 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a76113f0-dda5-4932-bd9e-b3f07860eb1d phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9d6bbe29-b917-4cab-93e7-b89e6c93628a phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6696c766-ba9c-49ba-8c2a-08204d9c3ee3 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93f63287-bd9f-4597-900c-7fbbb85d8592 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4fedf43f-1956-478e-8659-8ddb3fc61e43 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9d9bf84d-ddcd-40d4-b124-56bbb401fd97 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c6a678f9-b3c3-4a12-9706-649033917a6b phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a2e857eb-bc16-4e2a-b439-2718dedfcf53 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:acecb38e-bae6-48f4-bc2c-b8e69374d11e phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:86c7f31e-88d0-425c-8fbf-6b5e4f7013dc phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d30050e8-de51-4cb5-9945-fdfcf5f265d6 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:791f6b81-0734-4925-8366-90567a0078cd phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:00e160c2-0bcb-4413-b448-0dee81712536 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1848112e-0318-425b-b887-1f614e975213 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:81d26c51-b690-40f2-950e-7a59a6edeb1a phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:94e7d898-8d66-4a33-8758-f24e8d1ecdee phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:155fd45f-f1aa-48a0-986a-9efe11af97a2 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b0375f34-b329-4092-9b6b-65378d0526d4 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2e16c502-7bd6-455a-81f7-069e874ca9a2 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:919ae1a4-6105-4e58-bb09-7218d0efd56c phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f1c04b80-f129-4920-939c-d40c9dcdd0d3 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6c62bee8-fb50-44d6-a712-860dc47055a2 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eef9d3a3-634c-4773-8352-808376c442b0 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:68c2f2e5-1850-4aab-a47d-55aecae45515 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6c9be220-2a3c-4e85-96b9-bbd81a0ee157 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4ec62ed1-afcd-4c7f-93a0-019e6fbdc1a5 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aed5321c-d070-452a-b07c-d1530f987232 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dc3a559b-7fd8-49cd-9cf2-1e8ae15ab33b phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:99a918ea-aafc-4746-a367-3bb051d97025 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7fbc05cf-e393-4007-a375-2a7bcfe3ee8f phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0bd85161-db09-4d61-bcd9-7457d5867961 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e19b0b4c-4e02-4b89-b1ef-623a376f9a5e phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:4fd4c750-2b98-4079-9f0b-8ceeb2f9d5a9 phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:fe8b566d-4495-4bdc-beef-26cc652bc78e phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b5b11446-fd1e-4fa9-8d5c-01f54eb52ec1 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:407e17ad-7716-4193-aa96-560a5331e8a0 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a175f081-86eb-41bb-9f88-f5309149f8c9 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:73b924e3-05b5-4f15-a3f5-6c22044f70d2 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:726b31a0-e78a-4030-acbf-925d375df8cf phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:4000079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8b1b3556-7b35-4152-8d63-bbea013dc791 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:97d59f22-6869-4cb8-b043-f402bafb93b7 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f6a6a7ca-78e6-4944-abce-645e1a336bc6 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1734fcd7-60a1-42f8-84df-b7b6e31f86c9 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:19b396d5-2e86-4156-9435-0902d8cf1bcc phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8da8412e-185e-4a25-b2b1-dac3cc8888e5 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0007380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3532d57d-6cd6-43f7-8dc9-113c23d8c216 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:303c7425-2756-4efd-9122-8b6eb9ed35dc phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:658ebdd3-4d15-4413-914a-5784a6a7ba13 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:02e05045-9570-4695-8ccb-90a4313ea6b1 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:944d2476-ad6a-4351-bd4e-c7d4c755f990 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a7644595-d4ba-415b-9990-50038f5b7586 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:026fb745-15b0-4126-8428-9b7c9d10667a phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3611d54e-5dc9-4038-88e0-911e31b3fe3f phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:29be27cc-716c-47f9-afb8-80d83dcbdd55 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6d1e322a-9ac3-4a3b-8b85-09c33d16d539 phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e87d4eb0-8251-43a8-9044-86ec1ff6219d phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a1011758-9536-4519-b79b-d0d64fe5e62d phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f4ab8c87-f76e-499e-a8ed-52c3a4653b0b phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f7ecbfbd-f99c-4f61-8732-7dc50f26d1da phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c174c3b5-1fc7-412b-a84c-842559b1413b phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:2c58a9c9-9692-40f9-aacc-9c3314605fdf phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:8d3c736a-4418-4e3a-a919-e718e0366111 phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:62e087d4-56e7-43ec-bc5d-37427b585b47 phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:09d1ca8a-a72c-430a-84e4-08f8f30a0a4a phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bc55abaf-5d6a-4379-9d54-a1de6b0de609 phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b3b0ba2e-4043-4170-bee4-6419c579c36a phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9ff6859d-46fd-4a71-b8ae-71463c8999dc phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:274aabce-3792-48e2-b770-d62749a9691a phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:52f2fa82-ec42-460a-90a6-cc6439fbaedb phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:9fcb58cb-551e-4d5d-b136-9bd3dde1d41b phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a98525ce-0790-495c-bf23-0ad19f722b57 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1d0c60a5-5f47-45d5-8fcc-51d56051a806 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6a4075d6-4a77-4662-9290-52326e4a718c phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:380f85c5-9716-4f5a-9abe-de3fe13cd975 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:505f61b0-a7af-453e-bbb7-31815c789379 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2860b197-212e-4010-8fe4-d14c3ee24dd7 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:82db4cf6-65ca-4c29-87fc-d6909fa4623b phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d3444912-287f-4a6d-9b65-6582fe915bd4 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:40c66221-d644-48fb-a410-4a27ea106655 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3b601c86-252e-4c1f-836b-48450ade1d94 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:048d3060-0bd7-4c64-88ca-70b2e31cba7f phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c974a14b-0745-4880-8a65-1bab1169779b phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:af912143-0e2c-4992-9c0d-185c9bfed75a phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:22c0c2e3-55a5-43f2-8f9e-2b714b37e886 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:73aed3ba-7e89-47b3-9285-d801d9faec0b phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ceefb6fe-c084-4d12-bb78-0d035a0dde81 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:21024339-8afe-423b-842b-8205f2a21e6c phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9d75cb1-2577-4a0a-be21-88e03ac06b1d phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:940ae84f-8ad8-4fe0-8581-4e6d2cd5add4 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e6902a8f-949b-405d-9cf0-aa463c000795 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:05369142-9df6-4986-b2cb-adc1159e3c46 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fde95786-c929-4385-aa64-032e66b06dbc phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:43c7cd34-e612-43e1-ac9f-3b5bf43070d5 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9902f294-43c8-4e5b-9a7a-f9b62ca2b224 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f3701aeb-97a1-4460-b8f8-d633a3dbd106 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8ff3375c-d36f-4964-9d76-337215483109 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9a3053c-ebf6-4ddd-a80e-1a1fb5d3d3b7 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2c37c10a-971b-446f-b8a5-02b8bcb1f400 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6198e602-6efb-48c6-a687-1811d3d48759 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b139262f-2590-4640-94ef-016127fd53df phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b674da51-1bf7-4a92-b65f-2bb12e8868a5 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:f7d2a95b-198e-4535-b129-cc6d2576b376 phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:25b23686-ad5f-4617-a31f-f41a269ad125 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:150e8728-ada8-4b0f-95bb-831cd89df66c phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0012412 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:361d5e74-7e89-4d61-8050-47fb6a3eb690 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:acc95456-2370-4d74-8189-9481af19157f phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ece08d40-0d30-4862-b619-f52397aa7181 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7fb63ef6-fc83-4358-a009-937ca9789491 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e173269a-6cf7-4adb-adbd-45d9a137a088 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:536c87a5-9bad-4990-bed8-575de5adb2b2 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9dc61a73-222b-428f-80f6-3d9da4006fa4 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93e6d436-381d-41d3-9df2-47c65a7da9e0 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0005639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:86be66e5-6f2b-4b49-b2fe-0c45ff40c5f6 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4fdd10de-7e1b-4132-bedb-84b6c01758a3 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3ce2e736-0b1b-43e0-9d69-ec3dfdd56069 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:945a2e25-8953-48c1-8b64-81b93985a9d4 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7ff345de-32c8-4b9b-93f5-0035ca02ddab phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:54e8ddaf-0f47-4eae-ab89-bbfd9051c271 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1914fcdc-0325-4bd2-9887-9b1f9c2f7d0f phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0004324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:31ab9208-7576-4164-a47d-cdcfe886ffc0 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4157d509-17f7-4184-9eca-dee915683c4b phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f428b49c-bdad-4177-86a2-8f9043ccb3af phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a553c13c-0e62-412a-a0a5-2eae12f97083 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2fc9692a-f02d-4561-9322-0e78bab12c9b phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c0f07741-a923-451f-8fae-bbd920043fc1 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d45d8805-64e5-4146-9c12-93f260bf1a50 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:960e7d08-ed0b-4eef-8073-75c0390b1af2 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ce04043a-9935-46de-8be7-5c95384757d5 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6832155d-8afb-4520-a34d-539254f6f2fa phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ecbbd748-5013-4f9f-a0d2-a585ab274303 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:67eef91f-d154-43e1-ba0f-bce05a48c6ba phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4ddc233d-9be9-4df2-be01-e2d5ee272a0a phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:620ad80d-7f86-4b55-a399-393f7b5b29dc phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6fb510be-77ab-4189-bf8f-cd05e6d14a17 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5c997d34-4ba0-4676-b7f9-15f528f32f0e phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eb9af5a7-5313-4bb2-b991-0f47ebd9219c phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7ffb94eb-954e-4ecf-bfa9-940dbd64ccd5 phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:91a14c2e-024a-496f-8f43-dd6eab5b31c9 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6cac3766-b3f7-4ec3-b216-0da787b1e48e phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5369fd83-8608-404b-9809-a4298093e664 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0002558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:228b3eac-622c-4d4c-a411-656cab0211ed phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ef9864a8-1747-472b-8e3e-93a1883f16a5 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0031728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ad377154-daba-4cf2-8170-3b77277422f6 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2e1cde86-16b3-44ef-9107-e6c6591e2dce phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fcf44a88-4335-4366-ad7b-d6201790819d phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4b38e436-9b5c-4a7d-831b-963e31f7b028 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3fedb80b-b04c-46d1-82eb-88dbb7bf8433 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a30108dd-63ef-4e6b-bbf8-86f60bef348c phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fda08164-8adc-4dbc-91cd-f962c7845764 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93a1f068-cf23-4754-bdc4-8aad97f14de9 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:059795d5-feb8-46ba-b7d2-d96cde226384 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7c78780b-20dc-4eed-b0e3-ae715b7007a9 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c931f897-2441-4755-b644-f334cf7c2718 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:feb01bdd-1f56-4975-9a20-20c44c366ccb phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:281c3203-7c34-4408-8943-5435c81edb3a phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:00043730-fa4f-47c4-a7f3-cb4b6efdd745 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:90a4d6d4-640d-424e-b94d-462e64013f96 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:78d72a40-5584-4856-adbf-2da1b1db5d79 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cd8d05e1-a2ef-4c56-8a25-1b545d21a9ec phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f605d338-0fa3-4bca-813f-6a0c662cc778 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a284ba51-95d4-4c9a-8417-56371beb76cd phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:31a38585-385c-4c85-8a5e-558e9c374302 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:60d4e337-864d-4b8f-9b2b-43dd5685f301 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:562445c8-689e-4d68-aeb5-4494b202b09c phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8a8d023c-1edb-4de5-a52b-623fe37c9667 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7ea71100-2480-40b7-af84-4cdabdee6c2a phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:254abb18-c1f4-4513-a88f-8f2a3a8e7b29 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:35a8109b-8548-48f3-87bd-55be5b08f0e6 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:169e2309-89aa-4272-a35e-b4fba5ea03d8 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fabeaf1f-c8fb-4805-a823-91afb2ca1ef8 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:72e58f64-0001-4824-8927-1f6c5bc21192 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:06fa2f04-c39b-47d2-83f1-31a69377ae9a phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1353fbcd-eadb-4948-ae30-387e8eaa5b63 phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:6f00b234-ec20-4d1d-870e-07dbbda87e6b phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:34262bc1-3375-4924-a4a7-130a165ccfc8 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6fb66ada-783e-4474-a4c4-d24042f47a75 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7aa6a7b3-59f1-4230-8236-6e1b2b4539e8 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:08d44574-325c-447e-9334-75987cc0bba9 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:85a108b6-d86f-424c-b3d8-3d39a205f084 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:47671bb2-e121-440c-90ea-9df86108da24 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9ab50191-1722-4def-bf83-1b0545d13e75 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:de1dfe9e-dd58-4625-888f-a47e593184bc phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0e79b1b9-a75f-42aa-8223-d716697703de phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a0391cae-d634-4a95-83f6-47288e727ddc phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4788b39c-e266-48e4-b264-6c6f452a4fff phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bbc7f9ab-4672-4699-beba-db309ffef7e3 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:260d63fc-330f-4f9b-b6d1-467f0e8e41b9 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6be83157-538c-4232-b998-458708019642 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:28b4d0e5-e5f3-4a4b-adc3-a9573e1dfd8b phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a89bcf70-f254-4132-8909-d3760289fe58 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e0f48b85-7dc6-4a73-8072-5ead5e7716fa phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d7bb9d4a-b654-4214-b2a5-4cfc949b5bf8 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ad781b12-e290-42c6-942b-55f9cfc67007 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a3fd540b-4062-4933-87ed-e84c4864dd17 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3189cf6d-a21f-4d35-99b9-f2351ea9d273 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c4c13467-4a41-44f4-bc91-6929a4b4c638 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:719d7b79-f35e-48ef-8d1d-2366a15ee12a phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b24b8ddf-984b-4150-bd82-e559803e2c1d phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e7303c32-7176-4a1d-9d61-15f7a504f674 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e1ff3c69-b3fb-4538-8407-a901405b1e31 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f5eb9a92-e1aa-4806-abf2-d426512e33fb phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5743ffa3-a946-458d-9758-1cd2cfd0f841 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:19e5fd42-4bdf-4ea4-a285-edcb676b5687 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7f4feaa4-e7cd-4c75-97f9-6acba2b5b449 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1e99d253-c5c7-4011-827a-018c4fa68999 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0c56910b-c282-4d55-b8c7-94f9d3a5855b phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6f1f78cf-9e2f-46fb-a2c5-30e6240a188b phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8b8778bf-0f35-4252-af84-dc0826d9cb79 phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:44c2936e-ed89-4b1f-9507-9b4ff0acc4ba phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:1289e42a-be10-406c-aef7-65960da0d7fe phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ecd5312d-c70d-4f04-ac11-70f7de2934c9 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eb474f5d-4fb4-4161-8fe5-5a03a9fd8e56 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b47ce04d-69ac-441c-8e2d-43b0b9c7ed66 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b3323bc3-81cf-4cb7-844d-e65bcdb9e94a phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6e273089-ce0d-44e8-9313-9381b5e985a3 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:983a3e1f-aed4-4402-8a7e-3b71e725f61d phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8f5b048f-2b5d-43ef-a12d-8c1bc5200a3c phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:aec081c5-1d7e-4642-8f21-73b840ffc14f phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:db837684-7a34-4317-ba97-8efab6314bec phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:efd41506-f1b4-45e7-a7ee-fbee4380cf4e phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bab52d54-3bf2-4f95-a0b5-7a7f5a39ea19 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e31211a7-b3c4-4ded-9d7f-a15c8753c4b2 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:342a4c08-0123-4b32-9e0b-c40811bf2d6c phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:301c54dd-ed10-4ea5-ac00-0034eb3c18e3 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e1898a74-961b-4760-8533-da565082be26 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:74bf7bb3-a2f4-4ed5-bebc-970a95bae3af phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7c1c29cb-0375-4555-a3ba-46ece591c2e5 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2285e0ec-141f-4b8a-9d83-07bd60a3aa14 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d1d748e7-b01d-413a-97a6-2f475adbbd94 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ad66cc9f-11a1-404c-9c9b-703fb3b05547 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:30a13298-bca5-487b-b463-545e6a10c18d phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8a5f3382-b93b-4a04-a34e-7e0c4e719404 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:67b5fa32-752f-4577-9ec3-d8e3905af476 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e083c07f-afc3-4df2-8bca-a5c23d3ccef6 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b7b1a9db-427f-49ce-a040-0137e7cf7d00 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:32d0c2d5-9641-4b27-812b-6493e891a498 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:ba33e2b0-7823-40bb-bbf9-bf4a4060bd26 phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b3c019a4-258f-4b7e-a7b1-0d694e3dba01 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fd87d10d-8453-415e-81a4-ada240c2c411 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93a05fec-052f-4033-935d-891981ca7a3c phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a0bf337b-1151-44f7-a46c-61a34312f87e phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ec8cad80-7815-4f44-8f32-0f69dba81ba8 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a9c66160-82c6-4655-9800-a16bbfab5b12 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b4c7cf36-40e9-4e96-a571-4b1e06236c62 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5ec44d9c-bae2-4a66-bdf8-ece46cfc944f phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6b7dbe0d-f859-4803-8120-9dd4d1adb5ce phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6f92cf0e-55ed-4ec2-bc91-b3d659c1f823 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cfd7bdaa-b851-4a06-9eb5-1f5cdadabf4a phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5436948f-9815-4182-bd6c-03c1e46bff6d phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9f7bd8a7-b79e-4808-b1ef-10420683a01a phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9eba463b-e8e7-4c4d-886a-a356b289abb3 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3441b09b-4f2b-43f5-bbcd-bca44e7b39bc phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:56c3cdac-2e90-4af8-bc3f-e5d0c822049a phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:be97a158-020a-4ebc-9e69-3224edf4b87d phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7b26cc3e-d9b0-4f5d-912d-c1f473fbdacf phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fef3c808-42ef-4712-b6ee-d53ed46f0c2e phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:feb7f5cd-3cd5-4f4b-9a1b-cd8af979e004 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a2bd264b-fd80-4f70-b5d0-9caa15067120 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:69abb72a-3aec-42e9-9721-13badd64efee phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c14162f4-23b3-46aa-820b-c84a183621c4 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d1d4ebb9-4f4e-4dc6-b3fd-919862557b32 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cc13cfaa-5bc4-42dc-a0ee-f6b0ec45f108 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:24ae3d44-d70c-4846-b2f5-2041efd28226 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c59179a4-1e04-46fb-82c9-b98704ed0a6a phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:0a89569d-d0e6-4091-87d2-b0babf943d94 phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:81809257-1d35-42e8-80eb-ca6da72d6937 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d519c2a3-65b4-43a8-b789-b6ce8f263799 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1c82f690-6ee4-40e9-8a77-27127c5211ba phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0009800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d71d5b31-376a-4b1d-bbf6-60c10ee4f8d8 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7c59b6b3-096c-45c7-880c-5551684c5a3e phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ffa17aa6-baf0-491b-8aba-4043a527bf91 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eab441e0-92eb-4472-8acc-da8580c395f3 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e2d70d8e-ae69-4ced-ac85-9584ac56ffef phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2638a837-3e47-48d6-bddd-6fbd23e54a62 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d88c848d-3d42-430e-9dc7-40e019ac1fdc phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a7ac75b3-a7a3-4be8-a864-651f527302f8 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:43efd4c0-376b-42ed-acf2-d24f89f76e1a phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:46aa3811-e160-42d9-a573-45daf74c37e9 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cda34af4-39aa-4856-b193-d522cc125420 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e2ceed94-1243-4981-a5c9-121acd52cf3d phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e57330b8-0c82-4753-88e6-b5e2e012f858 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1e9b4a8e-3083-4fab-9ffa-615418ea68e3 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a95a4561-0a99-4dde-a700-d8f577ef0cf7 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f683d0ff-6a03-4705-ba2f-8bdc8696447d phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:01f3e84e-8c2f-49c9-b77d-87ce13b4d58c phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5a529a99-3ffa-4019-8791-d555ce00d918 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7f180f86-5b45-452c-a720-89cabf57973b phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d7e15c31-e570-40b4-b51c-df5e7737d180 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bd343f8a-8b4e-4b26-b3da-cfffc9e3b08f phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7cc5a354-786a-4866-9e28-ff8282580073 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:48c88b36-3c6c-4b80-bbf9-c6f6c93f4d35 phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:ecdab5da-1a41-4c83-b030-6db1fe86c0cf phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:08dae62b-328d-4166-ad5e-6290ffe02ec5 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1789fb57-34f0-40d6-bf81-94fc53c441de phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a5f6488c-0940-4083-aa3e-6e8c634b7bff phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1a6662a2-4fbb-426f-b787-48bb7cd68d30 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:333ecb4b-a10c-4dd1-b1c9-26e62e90c805 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3c2defe4-a01b-4a03-ba01-1cfc64736cb8 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5abdc446-c1d8-460c-8c9a-f871f1102ad0 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:829a83bb-5127-4e6c-9421-bb15b285f493 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:520da6f8-c3ff-464f-95e7-a53854c68ccd phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:469156be-d30a-4ecb-ba0d-58854da90fa0 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:03d43dac-6838-45d8-81dc-09931e9d004b phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6ca52626-1d31-4f42-bba9-74f57fed3e6b phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:30896526-39e8-4f24-908f-de93fe86bec3 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:331d357b-848f-4c8d-8c4f-b8e4c12067d2 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c20245dd-6536-47b7-bc93-7c5f659d973c phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5bed4a82-8763-4cf1-b813-743d6fe9c33a phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:43262a24-3607-4698-b7ce-70c263e2f1bf phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cbc786df-9fbe-4d02-9254-dd962a939e0b phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:19dbac6c-cb49-490f-830e-4ef2deb3615d phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8c1d103b-ae79-4445-bf67-38095ac78916 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a2302763-a516-415a-9f6d-5197ddd38696 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:19084798-0d5b-4923-973e-35fc0d39cb4b phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6836b29b-d680-474e-b821-26bbcffdf7a0 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:922b5134-e83c-4638-bd64-f7d5176efb29 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8dd3b2e0-0564-44c4-ae4a-ef7f7c2a0e70 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9924f71d-6858-4403-a663-dbf72aab4528 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:88a94266-999e-48e6-8a07-ea83c4b54a90 phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:9452f396-2bbe-4f09-957e-1c0190367618 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:68e51aad-6e8e-43b9-aac4-25587e4da2ec phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f480adfb-cf0f-4894-87ce-15aaacc133c6 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f2e62739-bd13-4e10-9e50-a3c12391888f phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:703b0645-7b6f-4f1e-8305-96767f549266 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:72ce6c80-8cfa-49f4-9807-35f1b8083362 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:05722746-ad62-42dc-8fef-190b99fc2f0e phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aa1ddf1e-41bb-4c71-bfa8-441f5252f201 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0076f1e9-60c0-4b74-9a4d-1029ac526553 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7a8df94f-b702-4685-a388-8928d0ff1f28 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:939287db-be97-41e4-9ed8-733ff928951d phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3a2014c1-2df3-42b3-b60c-cc7e5f0f42ce phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9b53b78a-cacb-47cd-8063-fa89278c7c56 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cf14e6aa-184d-46ed-b9b4-0d0e443a5d64 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d4a204a7-aee2-4052-b52f-b11b033cce0f phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:50ff21b8-3b3f-4c29-ab29-5195c5e2d6c9 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b9aedbad-622e-470e-953d-ac7a3a0c6ec1 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e0df9bcb-9d89-499c-8553-2608c5df4944 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1dd76396-90bf-45ca-9ef6-9090316fd92d phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:78148525-b62d-4bb7-9879-89d09846d751 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:90e713b6-7ddf-4d72-9a7e-d4529f94a079 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:275197d1-2a04-4f61-9001-f43760f92f62 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a1cf69c1-097e-4496-a40a-5c6f61755d7e phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e4132b98-4395-4e9c-8672-509951af09d1 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:39aae8f4-589e-4f1c-811b-8e3bce4a83e7 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:da8edd49-b685-47f9-9b7b-2c10ccdb0bd7 phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:9bca3999-4d9f-40e1-b6f2-a6d798279877 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ba0a5dcb-3fd9-4e94-a4a2-5665a8d70c41 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0009800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f6242ba9-0355-4579-8408-b3be19a9fc84 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eba31ef5-6623-4a4e-aac8-3cb9c2abd1c5 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:59ceab7e-8cfc-4cfb-8d4f-6798f6b8c53b phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e863ff4d-d3c8-4115-88c1-b11a1afa2f3f phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b68862c9-3840-491c-87ff-7affe9f065a4 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:20f6842d-fa4c-48a0-97b9-b8f876a878d0 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d0de5d5d-3b23-452e-939c-8c61b9938ade phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1387e60c-3655-48c0-b315-98ffc59f8e46 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2c40ebc9-43c4-4208-81e2-7be99a9076bf phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f18da4d6-5aa9-4a95-8795-257b220dade7 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a272c9d4-3007-4425-8bf4-761498f62f93 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2e7afc26-8b2b-417d-a109-a6889d5eacaf phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e08b1c26-f05d-4be4-819b-7a56019c0999 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:230fe9a7-f8de-45d0-85a4-19f0eeff5a6c phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9a17e4fc-1db0-42bf-8940-18973d829118 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:30114924-159d-42f6-aa14-9b177a3bf008 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c50a3fb2-71b4-41c2-a945-2d9cc39db0d3 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b40c82cd-ce64-4892-b54f-1be3f8dfc8b3 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bcfcc922-1e7c-41f1-99e7-cafba79e218a phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c928ac11-af4f-4fe4-82be-35e849222d94 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f716c10f-e90c-4388-b70d-282e6de3827e phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5de64ec7-7a24-4b61-9ffb-de4c9f14463c phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:657e11d5-bada-42fb-867c-94b28a7e3838 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bdba9f54-d9a7-40b2-b11b-b593137f4d16 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fb4d812c-6085-4987-ba0e-bc068ee5cc67 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ecd69b24-cc7a-4cb4-a9d2-6b2da9df7ffc phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:88985d9f-39f2-483f-8d98-67d46845d6e2 phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:c0270e48-8b37-41a0-b149-a6152dcb0edd phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:53ff0e54-6905-4966-8e3a-98010650057b phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bbd99aff-ccb2-4afa-8eca-1c0353dea46a phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2aa0498c-7c3d-4176-9397-f7525298b73d phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:01e1539a-f0ff-4149-9b96-c66af1418a30 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:187e9231-a5b4-40fa-8113-4784efefcd70 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:694b2ad7-b49c-47b9-a124-b0b153dd82eb phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:79dd3824-26d1-4c3e-a6ef-09caeca786a6 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8716c368-3814-40f7-b84a-7a7f54c1fb2a phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8f213933-fd0d-4d53-878a-4def3f78d768 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c546049f-4b56-493b-b2b0-a91db839daca phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6dc0c660-ea11-4e24-a8c8-6b77090de5de phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:54faf7c0-2b72-4df6-8bf0-317911111a69 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:972e791c-951e-461c-a096-764fc41abe1a phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7be2c000-3ae1-4756-984a-159c7a63e0b7 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b489dccf-c9f3-4772-90c6-90d7fd10d817 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:728367d9-5c34-44ef-ba56-091ae3b0da5e phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9a57035e-2959-4ceb-b2f3-682d37ca4371 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3b225f27-d12d-42ba-b945-ab789acb09cf phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4614652f-a0bc-4df1-8b32-b4cf8aec03c0 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bcc4137b-acd0-4472-997e-20b1b4781d78 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2331182e-05d0-4909-a502-06060bfb99c9 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:66c9ecf9-8b83-42f2-875e-3d3851c1d9e9 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ebfb90db-1030-47f6-b5a3-cd5a585ae23a phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b754b2f5-12d7-49f2-a290-e301882c7edb phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0b888dc0-8245-4c61-899d-40b5ff2f51dd phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:de7b4863-4636-48dc-8f1f-1fdcc3d779a0 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d0daba44-7577-475d-b734-c9bf6a6b7885 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c75680e3-0f98-4c32-a6f9-e5e25fce1119 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5ae59bcd-15cc-44d2-a7e0-686e3319664f phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c43127f8-0f59-4f30-97c7-bc3b52729c19 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5251f4e6-c09b-4f69-a70d-64b2adc9a98c phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:027459c8-a9bb-49de-a70c-56ac62879a08 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:23bbf24d-a94c-47fa-ac80-888abf94d46b phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:59b38cd6-a7b1-4b60-8fca-2365bc4a410f phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9ecdf96-4aeb-44f2-bbd0-1eda9ac1f4d1 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:da039194-50fa-4d70-9ed7-1f1a38bcedcc phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b936608d-65d1-4a53-bec1-2bea1df14751 phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:8ce5154e-675a-45cd-8571-9201b5b2f872 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0011300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e999f880-f87b-484b-8d4d-b0d641c9859e phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ca843214-fc38-4371-842f-9c1936671f01 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a980c302-5f39-4ec2-9820-68224ddbcb05 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d08b11fd-1d99-4941-bdeb-deb18ef792d6 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bf4dcbcf-afcc-4658-b3a4-ca4d6c7f8bf0 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5913e6d1-cef8-4cbe-9af1-8c495cd67bca phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7db1285f-4ff5-4585-abfc-eabd798a0bb7 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c1620bc0-be7d-423d-87b1-581e4b63bc73 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0100876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1ef7dced-f3b3-418c-af3c-27eeacd3ea9e phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0034373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:18ae9c52-efdd-45ad-adb5-b2bc3f37bae0 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:719de433-5391-44dd-a5dc-3e63f3c90505 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eb3a526a-7be0-4ddf-81f9-9205f8076f69 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a6bf9e34-595f-438f-b7df-32bc5b0fd624 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1642e119-65b9-4546-aefe-d3be84c29d24 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6b0ea824-718e-4767-9dcb-cb21af352fb7 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cfe4ed65-25b0-45e0-bc45-b8fd7651946c phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dc38cd50-b6e9-4148-9b61-9dc3cd131336 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9311806a-c28a-4ca9-bbb0-9ae7a55aaf14 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:67a12aa0-ca4d-4ab1-b871-281bed00567c phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b6550143-5a37-41cc-83ed-b403e13e6679 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f9de8e82-709d-4e80-aaea-8ac7ba615bc4 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a2e476db-874b-4707-839f-d9250595b138 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bcbc4f74-54e2-497b-9440-737393647ec6 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:994c3340-0aca-421c-aa4d-5f79838603ab phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1fcca96f-8906-4e3e-a45e-c0c9bd4c46c9 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7a9e1674-8ada-4cf8-8bb9-86dec308a03f phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8b669af8-961e-4559-8e6b-adcf4dafa4be phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:997d0c8d-b74a-4f40-bda8-a4ec43c48604 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f02e74c3-1d6b-4944-b127-fb418dadd5d4 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:31977541-559f-4cae-9296-6a15a3ed0ee0 phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:c14b4fc6-4242-49e9-af51-07e23cfedeb1 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b9c8dc81-d55d-4c72-a667-0d3710f9cf47 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ced3ddb3-861d-4e16-81e2-a94789cbfa5f phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3e964f73-c7b4-48b4-a9f9-e6185ea1d722 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e382e79c-bfe3-4e8e-802f-8b1feeabadf1 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1add6fbc-d981-4e75-b8a9-e1437fa62987 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6476e229-ee8b-4c5d-8678-9039e4210197 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:13d1bd5f-12e2-4946-b4f6-7b08777c0c16 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cd8a2fa5-eeb4-4f61-aa32-62c79388337b phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ea60cba8-a647-49f8-a441-a71d8c90289d phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a794c686-587a-42c4-87e0-6ead07df3a60 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ca9bbf22-ad36-435a-b7a7-893b5acf3b7a phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8a06fb2a-4df0-40f6-ae2c-7e87b054910b phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b0851011-70eb-4ee8-b6a8-6ca58d1dc175 phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:6e47b310-c15b-42f9-b559-f83b7cbcd492 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:dacdc8ba-840c-4a0a-afde-619a2268b79d phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5bb7881b-02ef-468f-bb09-f323a192ceb6 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7ee8bec4-45d1-4d41-9386-705e1f964d7a phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3d3df1ad-d1d8-4e9b-b0a6-1490d1bc67f2 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:17629c90-8f3f-490b-bb51-1da827d481bd phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a53796e8-2fad-4c8b-9fff-70a83bd92c4c phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:32cd65e7-e40b-437d-b401-43598aeaf9d0 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fe819b40-86b4-4a89-b3e5-694a0544e089 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d7d6854f-c192-45ec-b738-d6991f33f6cb phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:48aa2a66-41aa-4ca5-ab3e-3e5e0f7a0f8f phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aca57ae0-d149-46f7-9b30-07aab42a3e78 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e150aa6a-4a1a-4f0d-8bdc-0ebf33ad78a9 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1c33317a-ae8b-499a-92f8-913f93183992 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:31b35ebe-1a8b-408f-97e3-fe08978ec443 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:337f5c58-ec73-45fc-8a58-7fe27e55464a phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2d627be2-e087-4df1-af9c-7954c0a6134f phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:70e51925-b2c0-4a55-956e-3a48501bc25e phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0c058294-7a15-47c6-8d52-b23fcbc8c046 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:053326d1-6c56-4477-8b2b-21a7cf4c6f7c phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cd8cb760-714e-404f-984d-fa28f860956c phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bcab9f7c-1cbb-44d7-9836-b64cc0cbc7b3 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:13e7fa8e-2de8-4fbd-a591-5c22be46ce3a phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5d4b30ff-676b-4a63-99fe-5da17bd53c12 phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:2c2cc36f-75d5-4e26-89b2-5b659a1c81fc phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:501cc221-7695-4f69-9ecc-7e4ab9d43ae8 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a9b99dd7-87d9-4c88-b97e-f542063f9073 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4dd5a209-69c8-4d4c-bc48-8da5d359409c phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a2d75674-4794-4401-929e-18e3c89144f5 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f94c4365-a9d5-4a18-a57d-e0500acf8805 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:29afb892-7926-4057-a6fc-6cb2869f9657 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0011412 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1b8b4d11-7d2f-4475-82b8-d922b0127929 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:469b1885-470c-4f92-a7b0-9fe28c40eba2 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a4e54618-0fac-4118-adbc-24dfe63263dc phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f73bc1d9-0c82-46b8-96f1-ea2b846ceec9 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:45759c83-a424-4634-b566-5ffa22887ee3 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3ae3943a-cecb-4e38-b4c4-2dfdb70bf03a phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f81ab222-1675-4286-9250-c884bacaf227 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e6c1d0d6-6e6c-4673-9531-930344df803f phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9f63cc1e-0fbd-427d-9ba2-576f6f330768 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9a1c6754-37e5-4888-9f6d-4157a2fcd441 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fd295254-e0c3-43e3-90ca-4189729bb1dc phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8f25d458-42fb-4977-973b-a79ec590cfb7 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dafae782-ca92-48e8-99aa-93f5c310c9bf phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3eafb1a8-aac8-4e04-a808-a3396f6db723 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9fdb662b-63e0-4535-9f18-bb83e0a73534 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a91c35d1-a84b-4377-946b-bc5b87781510 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:443c1e88-b379-471c-a1d1-b0d819d8ec21 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1a29beb3-be92-42e3-a7f0-1aa159ffbd33 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4cb4dfe8-b844-4869-bc0b-b7e485bf9738 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1f036ca8-544d-4844-a4ac-17df664a58df phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9305823e-51b2-45b5-ac2e-1eb49fd81fd5 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:846ff5bc-4ab4-451e-8d29-1c3f330aa98e phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:512429cd-3b82-4c9a-b868-550828c9c3d9 phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:5e8158e9-2475-46d9-934e-aa6621c89a3d phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:75567232-accf-48f9-b9ed-fcb13262d490 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0011412 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:286e068f-e8d1-4fc8-bfa0-e8057b0ea5bf phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1d320a18-0e1c-493c-97c8-ac6cecb9d89b phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:16fd4077-0e45-465a-8062-c38114bbf673 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ff84f5c7-90e5-4df2-8316-666ce3d7bbcc phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e3f9aab6-d79d-44de-9515-6f1824012d4e phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:62bf9475-4ddf-426f-aaff-a675f25ff8c7 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3e20deac-a740-498f-aea6-471537e2ada9 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8ceaccbf-f7bf-455c-93b3-44b1f581543b phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:31282748-580f-4eae-96fd-5279b4ec037c phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2bff7a86-40cd-4453-bf90-60ff974baae4 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:af9ac7ac-a601-49e4-9c0e-5b8e645421e0 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e8b1983b-58d1-4a5d-9736-9b68b0852cb5 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2e7a4a05-794b-41cd-81de-d153f05e02ed phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3e98c705-645d-45d1-8ef0-864086f71188 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c6bcf554-4255-4d6a-b1da-d9817f3fa9fa phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8c6e1ab0-1349-4934-9b2b-137bfc00aa92 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:99862f8f-907d-4f9c-83e0-3c935a42b7d9 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9eed59d1-9090-4bb2-838e-b3ce9d11aebc phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:72efe9a4-db9c-4b77-91a7-83e8d136431e phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5ba0d166-1c22-4211-b439-718bc2e656fc phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:36c43d48-806d-458a-a8da-cd19da9b8833 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a947e095-f726-4938-b215-aa390cbef938 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e208d99f-9f18-4ee8-93c6-399d769b0dd5 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:4387f429-76bd-4e72-a9ab-136bc891c7b3 phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:2664a463-18ac-416b-a88b-b26743b12e1d phenopacket.store:KDM6B.PMID_37196654_Individual_61_(MSSNG_MT_48.3) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1ba0e59f-04f4-447f-b58c-053c9cbc6a02 phenopacket.store:KDM6B.PMID_37196654_Individual_61_(MSSNG_MT_48.3) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:c4098a52-6525-4ed3-a9b6-b55f0623333d phenopacket.store:KDM6B.PMID_37196654_Individual_61_(MSSNG_MT_48.3) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7a27abde-efdd-4cc2-a27d-fadfc1c022a8 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f781a68b-f85c-456f-adf4-de63445f26eb phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0691ff68-52ec-426d-ab41-45b2f9251985 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2abb9dab-8ea5-4224-952a-bb850c8f8886 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:30da8b03-1086-41bb-b87c-4b1f00a46436 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3e19ca28-045f-4eff-af5c-715678b8d6f6 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:14ee4829-2230-4540-993f-ea302fca964f phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:76dec2d9-f940-4b29-a38f-0a2926f23cc0 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3ab36472-1e90-4597-a2e0-976213180520 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a04b6b04-6ab4-4493-9864-d502c9662360 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:173c7b47-c6e7-4319-ac1d-251eb98cc3f4 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4dd8c1dc-13a6-4b08-9fa9-3bead4274697 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:23b58788-c612-474b-b92b-ca1887a075b9 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6dfb0ac2-f091-4401-8a24-9780685145ee phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aa1a8b8c-d6a3-4b08-85ca-bb6112e57af4 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1c1c8ab6-65c1-458d-8daf-6119cec25ebb phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a70e27ad-4180-4ec8-a0c9-7686a55ab199 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ac9f66c8-08c1-4552-bc88-848cd7f84270 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:12796827-594a-4b6f-b8be-12ed9dccaa36 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5bbb9898-6111-4b99-ab17-69dd10aab909 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:de1f96c5-e38e-4e8c-ae2c-ebf72a336dd1 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cda83032-e180-4258-8733-04b0e3d604da phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:07ba6390-dbd0-4ff6-bf14-9f0e91b4bafb phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:500bbe31-b094-4b67-94a4-26dd98fdadff phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d4207277-4309-44bb-bfb7-5f3ce4356713 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:628be5a1-e46c-4d7a-ac7e-b02a10535b1f phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:66c8c72e-4f82-4cea-9eb3-bab2528d95e6 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:41b27fb4-4f6d-4556-a2a6-9d10998b387b phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c969f69a-ef9b-4afb-a664-80061673ad9c phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:032187ea-dd3c-4a0b-81df-294d26f3a8fe phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:03d09a85-4cef-4fa5-8abd-6204cf4796d4 phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d086433f-ff84-4203-8b14-dfd7ef9e44b4 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7f4cc32a-3bee-43aa-8d63-bfcc49861ef8 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d94102e6-1132-4b15-8e24-04d295b82ef1 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:faf05d4f-92a6-4354-bc39-1bb06709e062 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0032077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cb3a58ff-6d7f-415f-b500-0a5716370165 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6529d141-c566-4724-a52a-9acf3c8f3168 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a5d42a52-40fa-4869-9d1a-cd0326dd0805 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a9b6094b-f09a-4017-8ddc-a89be35ae8d7 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6eb66288-cfe1-41f8-802d-9589aa3a797d phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:da0e7d91-f8eb-41af-9ca7-5596dad90074 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:952bc127-96b5-4b66-8164-999e745b1d6c phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1ec479d0-5f23-4428-b5fe-46b16b34c1d6 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:92b0ade6-0f36-4f8d-8673-8ee7e9169740 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:39485a0a-9884-47c2-bfe5-567fb6613028 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:019cf329-c626-4f35-bac0-c3d34441a93b phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ef8a0e53-6a63-453e-b6e2-55f6ae966996 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:93de4361-0dc5-4038-855a-83017c590879 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e1badbdc-a993-4a7c-a4fa-81fc530dc682 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d64454c5-def7-4c05-869e-3e3ac6c4dd7f phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7455980e-ff53-4079-8880-b1e06c09fcf4 phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:78402e7b-0333-4173-88d2-87738b31c17d phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c9176f62-de0f-4a0c-a9ce-fa128122c10f phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b73c3ef8-f4ef-4b5c-b43f-8248546480de phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b0b0c7de-5fef-419d-aab1-f06422bd6b40 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:94b5f9ee-abec-496d-b336-b89228822402 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b5e594d5-d776-4a54-9be7-7974624561a7 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:84701751-8db0-47ac-a452-2d678ba6ba89 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e13b9476-e030-4957-8d37-5a804a620345 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1be333c4-5347-45d9-985e-f0ed0bed7df2 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:35323954-9e31-4292-bd95-3f4f710c041b phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3407dd3d-b090-4b99-9d3a-3d249b4d6b15 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6aaa5cd9-bd50-4b91-a2a6-ee2d04a6be90 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1ea755ff-cbcc-452f-9edc-e555868e28d5 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b1e82f53-ab7f-403d-9546-f2998425245c phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:af44fb0f-86bf-4846-b49e-31cb9164f690 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e309f6cb-c134-4591-9717-add13b48d68e phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3584bb13-891e-4957-ad70-9b8496bee519 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e8eab69a-a69b-4973-bd1a-88de24df3dd7 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ae0d9fa3-1bc2-48e7-a47d-6fa9304cd18d phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5fe02ca6-b2dc-430d-9861-dbbc7068991f phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3a74545e-c2ca-4b9c-b4e6-f1a81dde0e35 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d062cdf6-7ca6-42b3-a2c3-ed5149d57bbc phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e258515c-5499-4b34-9fd6-05db174f7940 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8433ccdc-b6f7-4351-a7f3-abab677ccc79 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7517ca5b-87ff-49c2-94e5-95f0915a92f6 phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7507d1fd-836b-44c1-8597-8269bb4e009a phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e9af7a1e-157c-4ea1-b745-0c5398ed491b phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ca63e204-785a-495d-803f-853280d79a37 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:34a97365-c5a1-443b-acb8-29832eebc68c phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1448edfb-09d1-4481-a506-7167ec0ca365 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:aac9fde8-8d86-44a8-890f-81f90abc9bef phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:473e4fe4-d65e-414f-b214-e8916bc17a1d phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:083dae58-4548-493c-a9fd-e6d2ae90d9d3 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0eb2a862-30c1-4ad8-8485-159e7902ad08 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0ee407c0-a2e1-49a0-9dd8-bc41103f0485 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f14ca13a-fe77-4e04-99da-9a5527dea128 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5aa4b326-c9c2-4b8d-b66e-b0fc8e8bd1c0 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:045b758a-dd91-49ee-a19e-3f88110d48eb phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:fcdf160d-90d9-4990-82e6-7ce00ca7bd47 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5882a604-eed9-474f-a5df-14fe152abc6f phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4e1e63ab-cea7-4cd0-afa8-5de1707d985c phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:44223c93-dd99-4422-a56d-d0dacf4c5583 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3d450d7e-ab3c-44cc-a497-8ba74eabc40e phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:78d88b4f-cae6-41c7-a4a3-ee5ce5d472ab phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f52229c3-4580-4b6c-9eb0-f23105909349 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c1deff49-fdcc-4a4b-87c7-a648d9b66af5 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b705b209-edd1-4879-b251-5a6be8fa02de phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9d853b06-152d-4b49-a564-4961eeef1314 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:de75f1f8-7d5b-442d-8d9e-93255b42a0f5 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:50ce53b1-93c6-4216-8cb1-50ff58cc0d58 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:20e456c4-841f-41f0-889c-33a4fcb6435a phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:57bde08f-ef2d-44bc-b653-a47c2fd4310b phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:39e7d823-13e5-4f1d-a839-0b3e0ba8cbe5 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c3ceec7d-c2b0-46de-be35-4d5a5cddfa7a phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0fedd11c-0cf4-47d0-b01c-7ae72ea6d92e phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:94fee0b6-8a73-4515-b28c-47eff09d4088 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:33a6c3c7-ce85-445e-a414-d05fc2cb209c phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:63f6d979-12d8-4163-841c-fea345aa6de3 phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7db219e6-ba95-49b7-a75b-fe257b3f66af phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:fc3d352c-6403-4e1f-8843-416e85285355 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8fb68f6b-0564-459f-9e3f-a571983a21ed phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5471fded-fce7-47c9-8eac-d0ba22e5bd75 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0a516eb5-684d-4c79-9bf3-ad6f386a4251 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3495bbdf-2b4c-4a46-a0b9-a8c1a018feaf phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:265053d3-652e-4df0-9259-0df2cc9d7d92 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d80c535a-20ee-4472-8ed5-886cbb617c0a phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5faa8a17-3ee1-4875-a25a-f405d0778d26 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c6d672cd-f4a1-4f4f-8d5f-824006eccdf9 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ae904247-3268-42ea-843f-b60862b6bc61 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:37584288-a60d-4fff-a271-cc511487cd8f phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:face16d1-1d3e-49fd-b63f-2a821e0a2816 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bec9e2e1-22af-4624-80dc-56ca9f430385 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:47bebf5b-927d-45b9-a9f9-7020c6b3b0ea phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1732fc59-0db1-4dce-87f5-3332356aff9c phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:143f806e-0d65-4434-8e34-405e9e90d9c1 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ae157ec7-b716-402f-92a5-d0f1b1bdf760 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cc6d5a13-b9cd-4e3a-82f0-347016045948 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:54f2c934-dc51-412d-915c-ad33e53d3475 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c4928f09-e6d8-42d6-8dad-d7cfe227bd14 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8463c3e6-621a-43df-a50c-ecda2becf187 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c70753a8-a7d7-4996-997b-7ac87b50722d phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bf8da1d9-df64-491f-9306-aec00adecaaa phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:36fd8236-14f8-4172-88d7-f710ec672e20 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:49a65d94-a090-4b01-a48a-b04aa4d5db73 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d8244c83-d458-4b7e-98c9-b1b233fab24e phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:18388760-7a84-4b58-aa2a-bfaa8808569c phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bd99a6d9-7d38-49d6-bb8c-4f8951c63ec2 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f6d76aec-f2da-434c-899c-72e45d6bc37a phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4d755781-bd26-40f3-b5da-b2ab2592afc9 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8ed21370-5a50-4a6a-b3d4-7e8b82c86115 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d6eceb1a-7df9-4cb3-88c0-cc7109c1c230 phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:edb0c071-fa58-465c-8610-eb4a4031f387 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0466b687-12dc-4dbd-83ba-cddd4e1d41a9 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:48b20d18-4858-41ae-98f3-9e9abda41d54 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f0c641ce-ef8c-4135-9523-975c4060174d phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:edd1303b-1ed1-494c-87d4-14f5a613a401 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1e92c7ae-9fe4-4815-bda1-5bcc22850577 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:73760c77-ae64-45bb-98b2-d0e6f2bcc13c phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7d5d4f18-5e55-464a-94b3-51fc5a9e5821 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0207c734-6d28-4c1c-8036-f05abdd60e84 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cce0d140-981e-4769-a5c6-f9a835b9bc42 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ddb03137-249e-414e-8606-1669b803efab phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b9085aba-c12c-4de8-8a76-de6edb4b176d phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ce9998c9-253c-422f-88ad-f18518d72418 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5de500d7-ee90-48fa-a4cd-f642a3384dcd phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c0918964-e1bc-422a-8030-5ae4c9c0be8f phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:85cfe84d-61d1-4bb3-b4f7-7b65a1d715a0 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d2d12b57-8e2c-4ec8-a3c9-079c316f84f8 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fc21817d-79b5-4c7a-8a37-36015b2f20b9 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cf554267-3869-4a0e-8394-123dbced8d11 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0f105549-ad53-41b5-ab94-c31a018cb53e phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c37e3488-5c44-4055-8378-6c723465856e phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2a32c000-1e6b-42e5-b85c-4d93322b56b1 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d5459de1-975d-4cb7-ac91-5e6b5a653fc5 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bb242342-16b6-4856-8634-1d52d8a054fc phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:8d9b6550-3379-496a-b367-9c89e8182534 phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:d6f573c1-13ae-49f3-8466-8dd6b02ab14f phenopacket.store:KDM6B.PMID_37196654_Individual_55_(SSC_13446.p1) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3d3f753e-6cea-40f8-ac5e-8099f266d690 phenopacket.store:KDM6B.PMID_37196654_Individual_55_(SSC_13446.p1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f8b27109-8447-4d1c-9aa0-2efa53a1fb4f phenopacket.store:KDM6B.PMID_37196654_Individual_55_(SSC_13446.p1) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:37db3b9f-8de6-49b4-8b72-bdae4d1cc83a phenopacket.store:KDM6B.PMID_37196654_Individual_55_(SSC_13446.p1) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:845660ed-b0f5-4edc-a8b6-06b49255de43 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:03b119c4-d39f-41fa-8a8e-0f9c648c28f8 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:55ca02cc-2d55-494c-9a3c-0c8c17da0625 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:84293483-bb5e-4aa6-8665-4a475e478798 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d6e5644a-0358-463a-b846-c629dbd2ef65 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:eaa550cc-f7b0-4c22-b71a-a7f3868ae134 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d48270de-8b57-487e-8fdd-c117b1947746 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d8def41f-7c43-426e-89a4-36b2b72d9dfd phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:0cf59b49-89cd-408a-bae4-9b9ce1158d49 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7e42c4d5-6225-4fc3-a11b-72c9358fd269 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:03b0b62b-b837-45d3-8e9f-94e06cf0ff3e phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a67df85b-4ed1-4e8d-b01f-13888a112e77 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:47d8236f-f3a5-436c-9971-b988980cfad2 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:66a38614-2dcf-4e52-8bc8-4c77c4a82af8 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:63ee194a-c0ef-4d9a-ac0f-dacafedc92b0 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:aa091a25-5899-4b38-8e14-4dd5d3d64693 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8abb97df-7493-4201-9022-cb3a44037804 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9fddab4-ee45-4798-9f24-2fbe8c5f9f2c phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:de195bd3-8c0b-4b8e-b62e-1ae4960bb078 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1d3b6371-5c3c-4f27-bfb5-ffd2c2babe13 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:df0b7fdd-0c07-4015-84d8-f2dc55aedb02 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ba9b2adb-51f5-44a1-b934-dd65b5619539 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bf31c527-5fea-4c67-aed4-2937e68f0b34 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bce2315f-0762-4076-ae5f-8e3345dd2916 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fbb5b08e-d7c8-4817-bd63-18b66f4162e7 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:81c37e35-cd5b-4183-932a-b7f9287eb73a phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8949b8ed-63d6-460f-ba4c-f4ee6bf963ce phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c3c002fc-8197-4dbc-a31d-0b42fef7d60c phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0b453966-58e0-4919-9303-9f7ae85d3da9 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2d9e2475-bd0c-49d2-b07b-0c26875d8c79 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:9fcb9092-be43-40c7-92ad-d28175487bf7 phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:76d97e88-1fd0-44f6-8e4e-ee6182d33e70 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e5740460-6454-42b9-8f79-10ad25c11d72 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a9de1fc4-7ef8-4fd0-951b-9eea48ef1a00 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:052fd124-83ac-4b99-8f73-bfd0d58de0d3 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f19ceb71-9b72-4999-ae31-53910c412c94 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6e0eeba0-2755-458c-af18-d64799f5fe80 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:51dae203-3aea-4f2c-ae7f-ff57ccfe36b1 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:385ca672-20cd-4340-bc6c-1af6fb76fbd3 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3186f0bd-d57a-46c8-8fd4-60c98b8caba2 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1b06be6f-7eec-435e-855f-7cb7a612e702 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:76bc9652-f349-4deb-b17d-0d632a3e6645 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:71a8420a-055c-4b31-ad20-531e5f9bb73c phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:261c58e3-0753-45a3-8d48-8198cc1f9efe phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:79d75c8a-8669-4df8-a86d-c5153750407e phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ddab4993-1996-47ad-b765-0813b619a54d phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:97b7e2af-b380-4491-abfc-e98881527d6b phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:98d63a79-0f81-4c30-bfa6-08c3b63cf3d3 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:84cb7957-9897-4eaa-bb56-69e87c625dea phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:da2ce9ef-6d24-438c-9cc6-589b89fc924e phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:96f52737-f95d-47ff-9a40-92df719423f9 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7ca0bd5c-a2ad-4f75-bdfd-2017afd09b00 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1e1ebcff-f45d-492c-b7a7-6ab64adadeb5 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6561044b-78e5-4d97-b7ad-eb94a425ce45 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:4295b6f1-d6ee-4944-be1f-69a72372d36c phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e603703f-81b8-4b18-bd03-e2b1c9737c32 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:612191ad-1b80-4c38-9929-6919cc5f2ac4 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7fb6abe4-913b-4d93-9359-02e7565bc0ef phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9ea3bf5d-87cd-4b16-a4d3-f9341b4dc75f phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a9815998-4679-4e1a-ae78-5239abc7ad2b phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3fa31543-a06f-42c6-ab72-6a689ef89ad5 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:69460534-a446-405c-8043-b3bfee95fc40 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a8b744f1-99ad-4503-90b8-27eedbaf963f phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:96d352f2-f5ce-4cbf-8992-9faaf0c4cc84 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fa560637-6ebe-464a-9893-e58d9d5d8c11 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c1d1ff8a-3ed4-428b-bab5-6c70edd1ffdd phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:46208505-ac69-42bd-8c02-697c999bcc26 phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:190d3f60-3135-4c28-94ff-ad5c998e948a phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8b44a2ef-3af4-4015-81c6-18bfb2022680 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c3a8b9ad-e743-42cf-83fe-74d3bc84c3a6 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ed67f97c-92d1-4244-8d99-8405d4c25653 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:773c9eff-e839-42fd-90c4-f15d654c41e6 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8ae8db39-5afb-49a9-b676-ad22788ba93f phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fddb8944-a519-4781-961d-b71fc26a8e8c phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2e8c63c2-0356-4d81-9810-1b61d8504e47 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:be143021-1db3-4870-b739-baca017312a3 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1829bab6-862d-47a6-888a-d957dcb31932 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dccef79d-8fba-4f36-98f5-19c856497a22 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:76fd0579-fbe2-444f-9c79-f671eb4c569b phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:63bc48de-6c5a-402d-985b-99577c0892d6 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f1bcf2fa-8faf-4886-99e8-919faab30908 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d78b07f1-7b8d-4890-a6f8-bc9ee26e06da phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2fac83da-959c-43bc-88ea-a355160d6be7 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fce93adc-d0c8-4100-86b5-8f702a899fa5 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e495801e-fb35-4c71-b8f3-6d34a1389fca phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f8f61b07-ef92-4d09-b0b5-f575db2df170 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:00fe0f0d-f0d8-48e1-9c57-de5495bd7572 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a93c7fa9-e0be-42ea-a31f-6770cc3ab94e phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ac12a2fe-5401-4942-bbf0-fa423e690f65 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:f3d47b6d-c5ce-4225-84b8-3feb8763343a phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5243718d-3417-4ef1-94ac-b8ce6bb1ad8f phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2e7c4925-4c34-4d33-a926-bbead4a45bcf phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d4f838b0-c431-4d24-a836-ec96eec31694 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b3178ced-3fd1-478c-a6f6-ca3be318b613 phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:6cb0bf23-f716-4a2c-a759-3b3df51252db phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f4acf3a0-5b4a-46e8-9047-270c386c2fea phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:aec6a8f7-ab38-41bd-b04c-45d208936117 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0009800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1bfbd6b6-a3cc-41cf-a0b7-8168113f82a3 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ba94f6f8-ba0b-4bd2-825f-5f541ce3069a phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:02a39e68-485c-4b28-a6ef-d943a12b1b79 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:aceee5c1-6a4d-4496-82ee-27458c78b8bf phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bd7ac69c-a10e-4f96-ad27-8363599e0f48 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5d5a4ce5-1a9e-4c89-a885-4eafdb1c6090 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:11128fc7-026e-4f78-8a01-b5ce4d4d4500 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e3a966d5-ffa6-4964-a0e2-f9e2456cd866 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:def8b62c-79ad-45be-9f5f-ebc146cd8344 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3ee6f427-d4c2-4a9d-91fd-2dcd9502e171 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f9554c6f-aa9d-40b1-a639-510a84955f2d phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:911d7744-acea-496e-aee5-496839b8fc46 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d1f10d7c-281e-4f2c-bf04-cac43f7a7eaa phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:baec7d30-2a3d-4f49-ab60-b11d3a7c1d03 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6823437e-05ba-4f10-ae08-6454956827dc phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:04fd3baf-3633-41b7-850a-799b2b237bfa phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2f6631a3-3715-4a2d-9837-038e8a5a2f89 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8c032c58-9bc3-4e8d-8155-d23686f21eb6 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:abb7456f-f3ac-4186-9283-e83044bd4039 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:564b9fe2-da7a-441f-8d0d-11aa0f3ef52c phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c5138a6f-00e7-4d57-bb98-1a4b43998d3e phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ed489ec0-f61d-40f9-a111-7ea6016201e4 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:864be838-de36-4f56-9ba3-2ce68fd86b39 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c046329b-9245-4e85-ac2d-35422ed1878f phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a5839337-b445-4592-99fc-fd8c5f514fa2 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3830550d-0f4e-4168-95fc-c4796be0efa6 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2b6df785-1e4a-4bcf-bd05-cde0cd6e7be8 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:42633e48-8789-4ccd-9ac0-4ce4417e6b53 phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:f907a0f4-4b31-40fa-9a74-305c30dc3797 phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2da38fa6-a1a2-487a-9c22-a0ab4630ef4b phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3f2f4989-2c12-4fa0-b3e3-dde340cfb699 phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ee10433e-fc50-4bf9-815e-14046c6d740c phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6bfcf058-e3f6-495f-abbc-5e4598c14c55 phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a5756a44-c310-41c3-be1b-540010e6aa57 phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ae9f0809-9035-4e66-832b-9b5dd3aa75a3 phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3bb19f8e-6c65-4e06-b35d-8a345c289b83 phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:49191f13-4031-4f9a-99fc-af15d0367b4c phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:270de83c-24d9-41e9-b3fd-8a7275dae4e9 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7bbed980-743e-4039-9f3e-8364a084fe43 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:aa1e2957-48c0-4ccc-8880-6d811af8f0a3 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b3b3b273-91c3-49b5-a1c3-0fc5a47e33f3 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8c44efdf-f2bb-44dc-a8c0-222daf10db66 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2e3ea406-f5a3-4e80-8faf-8283aefe87d3 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:04124c57-8e71-4500-8f0a-a05add4d8d47 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f4754a8a-b835-49b8-9d3a-8c01ae8f6b34 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:4df1e85f-a55b-4a57-893b-eaebc20d6808 phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:17ec0a10-d12a-4dae-a583-59b08dab7e72 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f6b3df6b-d1e2-4695-873d-2edb7596fbf7 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7b396c0b-6f10-4dbe-b798-0413584066a2 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bff6d721-12f2-44f1-ba62-a6ea635cb4b6 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5eb0dda8-7a3c-4275-b265-748ac5180c7f phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:9139fde1-db01-402e-bc04-7d1c14f3108e phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:61af90c5-5c0a-4bc7-aa20-f908217614f6 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0002370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:74ac36bd-9a10-4e60-8283-5cbb5af066d7 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e99c7182-515d-4360-9c09-dfd556a5f896 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7076548b-c522-4bac-aa16-0eb1d6ead637 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:259ae28e-297a-4b6f-b279-af4bd762cf76 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2d80001f-9d6b-4838-b848-23fbabd9f6b7 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4b648117-34c8-4c2c-a6a0-c40ba1a06259 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d6b456ee-652a-4a1f-985e-d49cea724522 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f902878c-9156-4829-96b0-39923c7ed913 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cb2c24b8-8b18-4655-b2f0-fabdea2e60dd phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:2adfd1ca-2bb7-403b-b3d6-0e910715a0a5 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e5acae87-79ba-4369-883a-96cb2e2f24d0 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cc3a913e-1ea5-44ac-819f-4b5aab8dc3cd phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:66717b80-6280-4001-9d90-faef86264d40 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:390a0820-a220-47c7-a6af-b6a5e943ca3f phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:cb13c08f-727e-4f90-933f-78634b2ebb97 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e98e635f-3143-40f3-9e98-6df843d5b457 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e6f53785-a97a-4185-b61c-4f109600170e phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:86104621-1905-4209-90bc-b48a616fe57c phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:752bee77-894e-477a-adde-cfde4ed6f4a4 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e766bd90-fef1-4453-8d03-85664dba4744 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:439a614a-9b35-42d8-bf10-70eba07c3d18 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:42725654-3500-40e3-8e49-81756753937a phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3c503d5c-7396-4a0d-b54c-7d8daf824815 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dbf0c302-54b5-4ee3-957a-5d82c01bdc23 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:41c7217b-2ac3-4360-b42d-6ab2bc51ba74 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b0244464-9dac-49d0-a353-5ea81e625495 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:616ca639-218d-44e8-9d22-820ab39ff7b9 phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:757cfe95-e252-4fe3-9804-604f7482910a phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:64f0ef39-0f5f-4708-aa3a-7f52cd7bf614 phenopacket.store:KDM6B.PMID_37196654_Individual_74 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:36af735a-7a6e-4026-b746-d77468ca8bcb phenopacket.store:KDM6B.PMID_37196654_Individual_74 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0a9a6d65-87a4-4e2c-9d15-b1d82fc665e6 phenopacket.store:KDM6B.PMID_37196654_Individual_74 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:cc859643-d224-4724-9bd7-724ae3d80ed1 phenopacket.store:KDM6B.PMID_37196654_Individual_74 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:8fbb7e0d-168e-4462-96f7-15ca7d19389f phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a55c06fb-4211-4540-889e-bebafc324602 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:36965454-8819-4608-802c-a6f74d02f66a phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d01cd991-4f99-4be9-ae81-c779e94df140 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bc6bd045-ad94-4b22-8e7c-d3b6b8437d0f phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b1068d24-59a9-4280-9c6a-0f7d0b887475 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ab7025c5-4ae5-44dc-9a27-9e9be678f939 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8b5b4538-dc28-4437-a311-dfb0e7996fad phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:651abc3b-4655-4d34-a50e-be95b1c328a4 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7fceb7cf-487d-4b32-a906-4d6bd2e99d41 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:98a44111-7af7-4886-aa7d-aa3c6f1c44c3 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:532427bf-2bc0-4a85-97d2-d70fc35f4611 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:366acfe9-8649-4d69-9b64-865eb4d75aed phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:308e9c26-9b8b-48f6-9853-441ef5efab77 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e334f457-d4ab-4cff-8886-3dbf797f6797 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e8750e87-75f8-4c83-babe-e0ce65994674 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0264e158-7081-4a92-87ea-07c06611e043 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:47c21245-4224-410b-b1bf-3a6d3576995f phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bec27402-7ae0-42bd-a4c2-6b1ae3d6feb6 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1c00ee46-8abf-480a-977b-de8e328ebcbc phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:00822fa1-0ccc-42e0-acf1-d0a5ea836e7e phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eb7a3086-dd7f-402f-b277-ef7858de408d phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:da0cb97b-577e-40d1-a84e-62c8c237e4df phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:d00e4f6a-1524-43bb-9551-8a709811e114 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8f55a7d2-bdb8-470a-a3fa-1bcf4121bf7f phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:529dd523-36e8-4af4-83db-47de7d22a141 phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:93b3d257-f531-403c-b3bd-ac56626f6cac phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:08e7f6e3-f6c8-45c5-934c-535cb1ed66cf phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:b37d9a2d-8a86-41b6-a0ee-dc3a878ce42e phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bd92d1d6-a0c0-4139-8b17-24c1f0e252c4 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7c4f384f-f40b-4b9d-aa02-77fe4901d7e8 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:dfe5a592-0f1f-426a-9c67-78aa22190487 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6a860aae-e2fb-484c-8de4-935f5e59073c phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e6110a30-f63d-43bf-b702-8c0f942200de phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:be35b208-d195-4633-a861-de27c3d0d233 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:212cfa66-ccb8-41f8-acf8-c24901fb312f phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0045086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3acfacff-67cd-4ef6-a8b2-65f33c5e85c6 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:475f0b97-3670-4b5b-ad42-67803b65758f phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:f305b9a0-a81f-4f29-91a9-943bf7bd7b2b phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:a4e1c78b-10f4-4917-889b-2b997ec6560b phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:bdf92d3b-97ce-42d6-b9e6-ab62ccde7baa phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ab71c531-1f5e-4111-b6a9-fa43714d2dd5 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7fe45612-ace3-4119-8331-8fb093386f55 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:b6fb935b-1d3e-4acd-b634-d8f8bc478421 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6c3b6739-18c8-482f-a455-8e370fe50203 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bad126fa-6a6d-40eb-9fc8-22460bc0f621 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bf76e130-18f4-4b06-ac1a-ece81848773a phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7567f3ae-890d-4772-a453-3e2d725f59d7 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:acc1fd7c-8990-4d25-b792-402574bd0ebb phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:3e7ea57f-86c1-4d5e-97f3-a7ca372b5f10 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e9d0bf6c-c226-4857-aaa6-b9ef310897e9 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:926693f0-ba8c-451d-85ce-66323405c234 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:72138528-6949-41bb-b57b-b45c717c9a31 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:82bb89fe-44c7-42c3-abd8-1b73dbd523f9 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8b099724-f882-412f-9cf0-9131384a27fe phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ce2d884c-ee21-4e58-af38-f0660fe22375 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e3235a23-7fd6-4b20-a7c8-7ada08502627 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:adb66eaa-1bf9-479c-bd5d-a096561e12cf phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7976a7bb-ed25-4874-947c-d7dff5756d68 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:579f05d4-c081-42f4-8e92-d8bd2f2b856c phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:0fa168d5-9471-4f33-967a-4a1cd257c0f7 phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:995b3958-f6de-47a9-b3fb-a159f3afff6e phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:5f7c86fc-ed6c-40f8-b1a7-f67b3765858f phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4c296206-4648-42a8-94d2-1fb8597bb799 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:c0bc6f8e-85b5-4ec4-9498-4ebfdab278cd phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:7540afb1-9a5a-45f9-bb5b-bd96b560c096 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3168c706-9349-4f82-b4ee-5493e6bebeee phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:3d045851-cbef-4991-a2d8-56ac27b11804 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:867d5798-c099-4496-b9d9-9f3011b73162 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0025116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:62607f07-8d21-4204-a3a6-b3be10451d4e phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:c4777c69-5a8c-488c-8fb5-3b2805905569 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e4a8ca9b-506c-42e6-ac38-e3a31199375a phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2cab3004-8cec-495f-aef1-8f6de425a4ab phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0410018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:00e23cbb-c976-49a9-a061-5a0f5908b925 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:342f1884-5d7b-4191-8d97-71b54117fc9e phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:edc1e4e0-2547-418e-8694-9281f084a82b phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:eba1a9cb-9b90-457f-8622-b6fce3240293 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8ebbd4cd-b6ae-4ef5-bfd1-87c7b7ac2a30 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:7f9e5fde-f6cb-45c3-aa9a-0dc15737a2f5 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e04acc3a-10ce-46dd-89a5-6b41aa798886 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:6a19b630-868a-4cd5-9ab9-6c8b5104b547 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ac9855ea-8294-4555-a860-4af78cbc1a6b phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:bd71445d-9866-48b5-a914-a8bab1363344 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:dc75df6a-0dbe-461c-8813-923888376161 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1ec75e6b-3442-407c-8a7d-e51432018362 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8f6c18bb-a373-47e6-a497-64e0d759e9fb phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:9e263c66-69ae-4998-9d12-9a45ec71a1d1 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:b09eb5fa-a861-4566-abf1-a4169b0557bd phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8629f49c-c465-4ff1-96b2-d7a578f54bf1 phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:1af21bf2-a867-4029-b58f-5702d3a970bd phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:7d77ea3e-e898-47fa-a562-7e1f5f5f04dc phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:435d1c79-ffd1-4448-b016-ef69d6d76db1 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:cabd42e5-1963-44b5-8aa1-ac5c280f5622 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ef63ba85-6c05-47c7-9aae-948ea91f47e2 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0410151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:e5a681e0-98ab-41dc-8c23-9092e2188ea7 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:d83343d6-ad21-4019-82e7-e23baba7a94b phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8b4e8763-dc3d-425c-8c34-4204c0cea0f4 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:63b1ed34-8ab2-43d0-b614-9e63b245bd98 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:6d88c655-4944-47f5-8a86-649ba49487a9 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:93dd2767-ab15-4624-a11f-391b6b845c76 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:5d254bec-76b7-43d6-8058-31a775b07417 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:48517be4-1a4b-4154-b4c4-0a321079a7c3 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:ac588740-9a13-45a8-925c-348e57a5110e phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:232f0dc7-992e-43a2-bb93-f27ba6dde643 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:1aa87bf7-c59c-4c88-b98e-4d26ceb5aa0a phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:8be55263-2482-4daf-87f8-031f165ae4b8 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37196654 uuid:4df6aaed-9b57-445f-848a-1e7fb6334d52 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:449dddfa-b84a-45f5-be2d-30c4a4fd05c8 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:fedb286a-9b1e-420d-923a-1b0d3c45dfc2 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:a9c843d3-d02b-4c1d-b671-3726bdff0ec3 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:28a66b7c-d8c7-4a31-ae11-645ec7cb8772 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:e04dd560-30b0-4357-b809-6317391f252e phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:56cacaca-9752-46c3-82b6-0554e4818304 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:361e9dc0-8e63-4571-8f5b-9ad39b93f85e phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:8e3115f1-cf6e-44e3-943c-422f63aac7cf phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:2daaef22-5d59-4182-82b0-58a2c0febe15 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:5f97c615-510e-42fa-9b08-7b5866330c21 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37196654 uuid:ef5796bc-91d7-41f4-897b-953cc389143f phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_disease OMIM:618505 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:c522dc11-d382-4da8-a589-64766f6db275 phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:has_gene HGNC:29012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37196654 uuid:39cfa9bd-8df5-485b-8689-3f020fd3689f phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:a421d721-94a3-467c-a2b6-4ed48e3711ff phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:a1f6b98c-1725-444e-9359-5be4776e57d7 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:43424560-beab-44c5-ae60-bd7c011bc7ff phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:82fa496d-787d-4f55-ad5f-091d4b32587c phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:436bb5d8-e7ad-4ca5-a319-9b88e5c157f6 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0002166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:fc8bda74-7577-4f07-967d-214463d5e8c9 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:349404d1-3da0-451b-bbad-6c73793cf7f4 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:fff77629-8ab6-4724-8a02-189fd771fa56 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:a00aca59-1271-43b2-b1ac-0324f8b9ed0b phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:2b17ffe5-663f-4d78-933d-aaca3303afab phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:dcd8bc44-bdd7-4933-bf1e-e34ee3ad1888 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:d902d9a2-2f4d-4736-b18e-979691f31855 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:d52f9915-dd66-425c-9e9e-f9f16565eed6 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:11f81848-b0ad-4f9d-a77d-48260bff6834 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:39c9c9a1-136d-4a83-9c69-71de00e66b9b phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_disease OMIM:604187 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:0dc719f8-43ad-4cbf-975b-f1b701c9f5e9 phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:has_gene HGNC:6323 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:04f4a30e-2e99-42f7-a709-0dd5c1a21aa8 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:78c2702b-d766-451d-ad89-932455085123 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0002166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:9d2a920a-3006-418d-a716-92695523b27f phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:4d94dbf6-ff84-4920-9695-4a22babb188d phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:4d2a6094-35e1-4a32-ad6c-1ae42e76b458 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:5f52c92b-cb9c-4482-b4b4-ee187c5ecce1 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:0aae5be3-795a-4bf1-b5e4-205679f88bc2 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:3def77ba-28a1-46c9-91c9-71a0f65f0540 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:19ab0bad-374f-42ec-916d-787f98dbd2b6 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:c4914d37-2ec2-4105-89d7-790fd6d6e2af phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:e496b72d-d4fb-454d-bd92-98d1fb41e7b1 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:b64e4210-9af7-4127-b593-1a2f0a7918b7 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:095f59bd-7937-4ebf-939c-ad0dcdf6dcb4 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:3bbf9fdd-b8ed-466e-bcb2-30466c7d4ab4 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:8fa8be62-9b8c-4936-b7b3-d270dc7bfe91 phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:9a7e352e-e7b8-44c5-8d4d-12dd55c4504f phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_disease OMIM:604187 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:eea79d58-7859-46e0-8a92-cadcd9440c1c phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:has_gene HGNC:6323 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:f18c80af-9202-4961-89a3-34dce9860b9a phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:232ba606-67eb-4e7c-9f77-89e10e5153ad phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0002166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:cf383827-e496-45d6-9899-6f28d8e8bb1a phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:d2981917-51bc-430c-afa7-d123313781c5 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:5dcbdf59-db00-4058-8a74-f9673778c4e7 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:e6ed4055-847d-47a6-b641-4154e46be342 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:f71b901b-77fe-4aea-b463-91317c11d9ef phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:65f8b409-29d8-4dcc-a0b7-6c15ee3d4c9f phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:982c0f94-b7b4-4d06-9062-de7092d84325 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:4f673568-f274-4310-9e6d-2e2602336642 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:b096cb28-4abc-449d-bd41-d32c95aa2284 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:b865eb58-7b18-4510-8957-4837adf5300c phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:7e58b5b8-e731-4058-9d70-78c6d7acd0a2 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:5dd1c7ab-1f3d-4df7-a855-f7a5b3c52faa phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:093e9bfa-3aff-4a8c-8198-b629db8dfa24 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:a1667e10-a009-4135-b18b-386bdcaccba7 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_disease OMIM:604187 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:01b3e41d-0d67-4aa7-bf2c-129bd92b39a4 phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:has_gene HGNC:6323 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:848d37c4-9fea-4761-9721-909393800081 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:865804e5-ce66-469e-b5e0-417e554072de phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0002166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:b59dff88-07ac-44a9-9d41-23e1789775b8 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:9ed55e2d-9652-404c-9bd2-2ac4ab09b163 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:ceeb0cd2-8d85-4728-b064-8886f286e38c phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:588ba182-c90d-4027-a2f3-e525c9007790 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:792def2b-58a3-438b-bf25-50ae91234656 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:e328bef4-d7d6-48b7-950e-74d6fa50d1b6 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:5aad9e26-1243-427e-9199-9b1f5aed89db phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:66ec51d8-9f32-45db-9615-ac33ab446f7c phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15452312 uuid:aa3919b6-9cc2-41e5-ae0f-8ed0653f8e2a phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:7d3608d1-ce11-4d5c-ac65-ed7a365903e7 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:77d5ae0e-b182-4250-8714-df8a4d666e1b phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:8b49177a-3c6d-450e-a340-883f17a8dc89 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:67078741-3a36-463d-917d-84f3d1fd59c1 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15452312 uuid:8810df2f-457c-4844-a3de-2e7906751212 phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_disease OMIM:604187 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:f9337302-47f0-4e0c-923e-014ab88c050b phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:has_gene HGNC:6323 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15452312 uuid:95fb1c99-007d-4b62-aad3-6ff1c22b570c phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0012534 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:30057544 uuid:b80a795b-a017-4cc0-a14f-aab9e8e77634 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:a7711686-8874-4d05-8063-7754a0b7d945 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:1d2e539f-a0cf-43ed-ae95-2285bf133c6c phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:bb8c361f-be57-4852-8886-798ea6411585 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:546de178-b0d7-4c5d-b8a6-eb1e0a283833 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0008969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:a82661d9-b639-4bec-9f25-94e33c720f4e phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0002312 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:7e3bf4c8-7ed0-4228-b824-946e921993bb phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0003401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30057544 uuid:1d77cdfe-0a97-4dd8-a8dc-37566c50a647 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057544 uuid:8d3c3223-7ce5-435c-ae39-5eed2a08746e phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057544 uuid:d96f26d8-cac2-49a2-ae1f-18959b868f83 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30057544 uuid:bf9d1da9-ae6c-4dcf-a839-bfa584539ebb phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_disease OMIM:604187 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:30057544 uuid:3185f4db-dd05-4af9-9729-0f926d444c76 phenopacket.store:KIF5A.PMID_30057544_patient biolink:has_gene HGNC:6323 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30057544 uuid:b4d1e19a-0707-45fd-b302-e4f6d9029295 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:713a3718-a4b7-418e-a2c1-0edb25b6f613 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9a532562-4a36-4113-bf66-f1d508d12539 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b8afce5d-21ac-468e-8a09-5cf307cc05e9 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e925964e-645c-409d-8bce-5376dc23887c phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:c55d52ee-f38b-45f7-bb6d-f02365c469b7 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0958aecc-fae4-4e17-8c67-7555c6d942b7 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ac5ce6e4-4fbf-4cb2-93d7-a5decfd82103 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:6562e017-99e7-49ed-945e-5d32557cdb3b phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:cd555d11-735d-49ee-8507-2bd5fb1e5841 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:32faa93e-0605-4544-b176-2498100f91dc phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e7ac1ca5-67df-4def-82bc-9f1a5613bb1e phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0d4369c0-054f-4551-8263-00ff0dbdc310 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:706e5007-fe53-4151-81aa-cd87a93d7b27 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:96193af0-2750-41d0-8a55-5e1ef9c6b8bc phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7c94bb45-7ddb-4102-a3fc-a2bd97e65040 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:10300660-fc5a-4e11-b61a-b0c080d2d740 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2ab4a483-02c2-4873-b3a8-7a5e567c6174 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2a96b798-ebf8-4334-9771-8ad61e01aa2e phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2a043b06-cb98-44de-8184-e89b7ffc1b6a phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:8eddf3ce-42de-4799-941a-d7497ced58ba phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e9933534-089e-4265-9879-3a7ade4b5518 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c5d7d347-93f6-4f04-83fc-65985da690f4 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:466d2033-56a6-41dc-8006-f5533f2a0112 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1ae416bf-ae5f-4819-8df3-4f089cba97cd phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:f2124187-3f6d-49c2-80b8-35b373482a01 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:95c9b8f4-9b13-4aca-b364-9826b346dcb4 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9146b42c-66ed-49c9-970a-10cdffd55107 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:0f4b6afd-25b7-4402-827a-4fe9252f6043 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:1c50290f-6ce6-47e1-be34-ae3e9e45d837 phenopacket.store:KMT2D.PMID_25142838_P12 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:4350b1bf-2718-4505-b8cf-7004cd78c091 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:c227b82f-1110-4b2e-89fb-f14da8b1861e phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:8668dfa6-17b6-42f5-8123-3b8b666fb5a4 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:3a14792b-a24e-4a07-901a-3dfa6eef5423 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:be91141f-194d-4d44-b4e3-7467e2f656b6 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:91595172-52c6-4a79-9ec8-6d5c6e512ce5 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:3c2445c8-ab9f-407c-8372-edf8fc08dc79 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:4ccd8863-125b-407c-a1b3-33ef7ed0975c phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:8def2730-c8af-4107-ae4c-56ea1610901a phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d1e2c471-de4f-43dd-baff-0d7d2544e894 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a2d0381c-a2a8-419b-a221-8acaf101f097 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f20309e4-f02f-4699-93ba-faf6a4b59557 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:551f1fb0-19b2-419d-8088-e8dd61fe61f7 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:7ed773e9-0381-49f3-834d-ce8424a98601 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:5da2ae52-b6bf-4977-b138-52d4b0882cff phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:6c4c0160-7ccf-4613-a0a9-2ece609d18da phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4a7d0213-d913-488d-be54-bf6f4513cbce phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:72ea84ad-02c2-4d33-99fc-8cbe30988254 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:159d3a59-d34d-40de-9453-25632458ddb0 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:b842c447-7d70-4d42-82d0-7de1cebd60f9 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:839ecde5-3c6d-4af3-bb4a-18500817597b phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:0bfbf7c6-790b-4ffc-b26f-27f6a5c15003 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:5150a488-58fd-4123-aeaf-53cb38b46866 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7f79b630-f168-456c-b74b-2cbd001ac473 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:67d03235-1d25-4c90-bfcc-c8c38d3e1687 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:447d23f3-2dd4-4a03-85c3-a28fb25689a1 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:fce4a173-d43a-4711-a956-ee70cf0ef343 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:f67b80cb-1af3-4633-972d-083aae4f96b9 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4c821ad9-5c46-4cfd-9998-46b896b933f7 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:fa7cff34-1076-4c23-b6f5-8a861f53f828 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:632598b7-6aa5-4290-97c4-076dc5810e53 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:70b5775d-75b1-4973-a788-cc387f15beb1 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:64f8f298-cad1-46d3-8ecf-331bbc8c7c52 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a1a60e56-931d-4e51-90ce-48e24930dcc3 phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:dba71d91-2dda-4f15-852c-75d35168832a phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:270e8316-4f37-446c-bc6f-4f348324737c phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:149e9718-6e89-4241-b137-903cc8025f64 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:59652c64-23b7-4320-b43f-b6994f38e05d phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:c9de8eb0-6d51-48dc-918f-b78cd8b83d81 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:455c6170-2eec-4994-9a58-49ca8b4b2d2f phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:7680f155-6dab-4933-b3f5-bc90efbd77bd phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:9ee2b91d-6c8f-4134-8bfa-ded6e8d83ef3 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:61e7552c-fa58-4d62-9ea4-6f5a390dab2a phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:0552a869-1f6b-4244-90cf-e3685b13212b phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:2a4fe4b8-7576-423a-8407-41190fd6f3c7 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:ab5d7e62-7284-4c50-8b2f-9ebff7f00ec9 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:17b115bd-0cc6-461b-95e7-62587e297a82 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:fff1031a-f5f5-407d-b5dd-deff2142810c phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:01ee283a-f8ac-42b2-8318-9e7ffc22c535 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:4dde69f5-090e-4ff7-bb4c-4ad7ae76df04 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:36cf2f50-4a45-4e0e-b45d-439b81da185f phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:ffbf0b9b-694c-42b8-9657-b2a3b8ee4f60 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:578ff001-8d8c-48fc-8b1b-4039ed637662 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:7c0e7011-bc50-4af4-9bce-b072286e3003 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:a8ad9e3e-aacb-4fb9-9eaa-5f7274ee916d phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:92e5dd29-5e03-45ae-ba0e-3269dccf6e83 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:6ddcd7b7-d513-42c6-b9f2-9073a3ba15c8 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:74fb780d-63d9-4c80-948d-01b956a4c899 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:b5e7efda-455d-478c-bef8-58defc362293 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:05c2389c-a58d-450c-b6ce-d5d316bacf45 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:1038b32d-f59c-4c11-8fc4-6f10c1d700c3 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:8528739a-f987-49c7-bd7d-26adf031c8ce phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:92cd978d-d267-438d-a5df-6a51ac4c4b95 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:de0d3a37-720c-4605-8b02-333387355eca phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:42b05d96-ac7e-46d8-822c-b19b3f0b604e phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:46a46a4b-37fe-4922-bd0e-cb9b40b75825 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:a93f001a-00db-4254-820e-06644c1b06b6 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e4aa5c35-d6dc-4613-8c65-c9a6082939cf phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e4715ee7-cb2a-4b70-b923-0d6bc3fc88d6 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:5561a6fe-1ab7-4a1c-a303-9f2f6c0395f9 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:6f9ca7a6-e172-4125-a365-f7cabb5788de phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:aca1d9cc-96bb-4ab1-aae6-a633efd76969 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f3b3fd76-8c11-4c6f-8006-cee39116d1cf phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:53a45bb7-4291-49f3-9b33-e23144620001 phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:31727177 uuid:c9bba9d9-6d7f-437e-b03d-1fd59795d54c phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31727177 uuid:ad0c8c53-72c0-4810-bf64-046dee117ff1 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:82ea4d1e-bdd4-44d1-82ef-2d360a2affb2 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:464a7792-2651-429e-8505-f698b1a5f998 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:02e46b66-f9d6-4672-9286-caef7f84ccb5 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:f12e03e4-3139-47e3-a16f-8382492dc2a1 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:a0235711-99f0-46d7-9d11-e2eb14286778 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:b36c48d1-4551-43c7-a2be-32c76c29561d phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:7cbce129-ba4d-4881-8cb4-870c47acdcc0 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:f53bb3d9-fa8d-4b39-a2cc-ab59b4ba7a6f phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:83b8d992-2562-43e4-b7f6-66e357fa9b98 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:826453fa-bf25-45f7-a8e4-0851bc03899b phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:6023a3a1-a93e-4590-9bb2-e25f4f588c08 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:f133ad17-e8ea-416b-8e18-022e2da57850 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:e6c051e5-9fef-482b-9214-97e8a7d7e87c phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:f517b815-463c-4fb7-b14c-5442daf4abb9 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:4d625c29-0a2d-47d8-873f-f75ffa4f6f50 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:73b0fc61-7bcc-478e-869a-637392a0a296 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:3990f1c4-6447-4bc4-a09d-d2a8f04e9f23 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:9c49971b-d046-4402-93d8-72f72139ed9c phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f95295f6-c736-428d-acb2-adcc0bcbae32 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:7fa7b0cd-7a5a-4395-b66e-844c3c0082bd phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:ed066e48-dd12-4dc8-80b8-4001a2c27746 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f5bf0ab6-3102-4e54-b3ad-57a81b654876 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:7289caa9-99b9-4ddf-8f39-a642cba70dd9 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:bc22802d-7cc4-4775-987a-6bd3a88eafa1 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:621d8e39-1184-4277-b014-effb3feb74b7 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:af684da4-016d-4d63-9faf-d27b69d4481d phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:a6c9b91a-a770-41d6-bb4e-2fdae61188fe phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:974cf244-d654-42ac-8055-3ce9a3a0d98a phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:45b0f816-f96a-415b-b62e-57c6948fd6c0 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:c94513d2-5726-4ba8-80a6-72d453dd21de phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f667ab15-f112-4e21-862a-e82319effddc phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:d34fee85-d97e-4aa0-bc48-520527313bd4 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:62298cf4-d908-46af-9e10-f9f1a28a2915 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:cb8e154c-8b04-4272-8214-e9ee87f00f7d phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f7237093-13f9-438c-940a-9fd6f5631199 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:b5e12773-24de-4660-86b1-553373bcdd3d phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f5e682b0-7442-46d0-96b9-0d640676925b phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:29b57b42-8579-4a79-a071-064b6fe05ff6 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:c6cc5c8c-1524-4bf6-9815-0e614b91a090 phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:cdc9af78-4033-448c-9e21-70e0d6ea2dac phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:32df2435-ba39-4569-9583-6dfe64a3bace phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27991736 uuid:2bde45fd-2cfe-405d-a2a4-ace7eb7d121c phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27991736 uuid:f4cb9c2f-0def-4423-a2dc-6e0e990a7737 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:96cbaf60-4d5e-45b9-8efc-b33cd0783aa5 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e3f82531-1837-4b27-92cd-00f7915ac8f8 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:163e7ff8-a231-4fe6-98e6-a39f0acccda6 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a4377c9c-b9ca-4d0d-a489-62b999d9d05d phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:cd843cfd-85dc-4785-8edc-b2939c86fb92 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6cb1e642-ebaa-49de-b73d-4633f4660daa phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:1f5f731f-4f8b-409a-b077-e95dccc2601a phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e85a10d9-9e14-4f97-bae3-75826e6c5d15 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:da76fbbc-d13a-4cad-9099-bda547e77586 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:29dcd8d6-6ec0-4629-b7d6-bd118c4f20c7 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:fdcd648f-c08d-4f66-888a-790f19da79d2 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a27287c5-c428-4cca-acf3-af8d3d36afd0 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:fc058f36-51f7-40d9-ba02-d04e493bd4b8 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:73e7f725-5fdc-4482-9ce4-6678111d164f phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:dea67026-3eaa-402f-85a6-180ad602806f phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:10874d17-ea38-4f26-8997-287f97d42696 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4b508365-e53b-4fdc-bde1-064bf624c11a phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:747dd4b0-3654-437c-996c-d49845252cfb phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:dcd0604b-2091-470a-998e-5e5433e10b94 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:32349ea9-9ad3-4f4d-8dfc-f3a3aff05250 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:37a5b161-866e-4f6c-b5a8-b83a37d83bc7 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:bb3fec66-3362-4c53-a7b7-0f748db2a0af phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9bfb0bfb-f288-4280-94d6-99d613dfeaa1 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:acb5eb58-836a-4b04-8fab-316c5ac53a4b phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:76a75ea5-fc2c-4154-be82-c780d058624c phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:f80e7f29-b513-4dac-9423-11d8fec83a05 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:645d5501-3821-4d91-aa93-d145cf6d637a phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a1f7a069-6701-46e0-9cb3-501f31bf76ea phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:87c3f3c9-8348-4aeb-8483-72e097e7e210 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d8c505cc-aec3-4dd2-8679-5e86d0e49d53 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e32eb4fd-11c1-43c5-837d-586b733ff6fb phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a6d27f25-a9ff-4630-98b0-5330e6c88f4d phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9a600726-dadf-4994-a26f-b1bbd9d8f6c1 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7d62e354-e316-4bf0-9496-9dc6acc30b10 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:75062857-ad9a-4379-96b6-7ec8343408b3 phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:36e633c3-aa50-481a-9f60-f761b469fdcd phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:1b98ad80-e238-4dae-93ba-cff022f765f0 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:ee80d85f-be44-4234-8ea6-a290ac979125 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:92a9fe30-64d1-4ef6-8c26-2e785c301f2f phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:3e6b6503-4314-4dc4-92e3-b5b487d65c17 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:e3a23deb-2680-4ed8-adea-d9272b2a3d3a phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:7fbc3b57-3e66-40c7-b60e-fbf6dc2cd385 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:9c1b53b1-f488-46ea-b350-3753bab3f7bb phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:8a49d5dd-580f-45cc-8b91-18f4c1e38f57 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:a313b051-8770-404f-8f32-ec18d5c24e5d phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:4d3cde96-5ff0-4863-b9ab-1e5a55b0f96e phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:c8f382ca-3645-406f-93b8-3d9acb694202 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:08ad3328-eaa8-47e0-8a93-c49ed893245b phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:99525ae4-6e80-4b62-b5cf-5e02d8c9dcc9 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:bb407a83-92ba-459f-af1e-0cc7e5ecfdca phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:bcaa6430-9758-4d62-a39d-3b614e221313 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:ba6de861-627c-41fe-bb13-6080687b36a4 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:772c898f-f957-4b32-83f4-097e493f5395 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:0c3c2979-696a-4c47-a564-61015d12256b phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:5216de86-6ac3-45c6-8692-3297016d0fae phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:60fc08d5-375f-49c2-b290-43abe6cfc7b3 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:2fde6521-16b9-4409-9b03-edaf6d5ebf1e phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:814803c9-f05b-4d74-9ece-83f21c4cf2c4 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:1290c3ca-3186-4ae9-8738-994e44be1ab4 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:509fb3d0-ff3b-4d05-a3ff-a541df74db2a phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:1e313d07-16c4-4e71-8e78-d2fea223a3d7 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:c4ea97f3-c69e-4a28-af5f-a0300b6e819f phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d24771ac-c6d5-43ca-a453-55729c9b4d90 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:78fb72cc-b74c-47e5-916c-5cc638c9e52c phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:46317043-6d69-4282-8a8c-d5769f93af65 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:8fdfc8df-eb7c-4226-84aa-7bbda1678cfd phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:3b4989f7-882c-466e-89da-bf883191182b phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:91b54637-582c-4b2a-acc1-f455bda907b3 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:84c38f77-4293-4a3d-9e56-f5ea059fca7d phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:abd43999-eba1-4957-bc48-e4a6a683c9c8 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f2a01f12-5ac4-46a1-838a-b0052983d33a phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:5f5d6351-6682-4044-8431-c92b92f380f9 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:79713abc-4991-4bdd-9c24-9d02c537cc1f phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P2M21D infores:phenopacket-store PMID:31727177 uuid:072ab75d-9dbd-4dfa-b5ec-8b0101fcc5b2 phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31727177 uuid:5f8787fb-6031-46f0-9bf2-da377b474ed1 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:fce96382-7e2b-4301-8c01-ec430b1e6fc8 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:62fb488d-461d-4cc7-8973-171cc4f081c5 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:06b8f2ae-6ef9-4cd2-8667-2e5c13213529 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:c9c6a5f5-2121-425f-bc0f-31534e6c7aa2 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:126470db-d3a0-470e-9a13-d36279e18a38 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:cc7a85ac-fc13-48ec-a43c-b7917a76c0e3 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e968d2dc-1abc-42eb-97f9-59480a27cfc7 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f7c701fd-c79c-42a2-a45a-afd636230a74 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:2610e75d-f8a7-4577-9274-07c3043608c0 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:95d7383d-5cd5-4a2f-ab0c-f60f49bacabf phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b2ae6671-5c08-40a9-8547-db1a46747e65 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:bd2470f8-8544-4d54-971d-179f750b76ca phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:cbcf1434-1658-42f7-89e4-5316af1d0eb0 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:6cbc17f5-d290-4677-8222-3f25be25f814 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c2f384b8-338d-47b9-9355-9821f0d07ee3 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d6d6b135-9b2c-4494-83bf-cdba7c90c8db phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b26e340e-cf1d-4748-bfe9-2d23b31992a4 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:3324f119-bb35-4aa6-a6df-6eaba1491650 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fc4b3f27-4002-400b-baa3-e9331148bade phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:ff3427f4-5b3c-425a-9917-6d9476cb6e89 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:4da69aa7-2830-4ffd-8ff8-af0ff95f8938 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:5be86f1b-aa92-472e-8061-9e6a183f60b8 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9e164d39-97b8-4c71-bf82-6e11fefe5700 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2497f03f-405b-43d8-828d-7000a268ac7b phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:49b6aecb-e1eb-4c8c-ae81-a362c0dea535 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:a808a01a-e5b2-40ca-b8ac-9f356af1d525 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:f908ac8c-9f61-48e7-acea-4e8ee1e80191 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fb210193-d23f-432f-9df6-66532a637943 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1d742e1a-1ca8-44d1-adc6-7ffd5f73afa5 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:f8be4a28-eddf-4ecc-8924-2a2b38255760 phenopacket.store:KMT2D.PMID_25142838_P1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:dc8e51cf-2902-401b-9f9d-d311a51d12ee phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:32083401 uuid:3cb496c1-0af6-45d6-90ff-6789b9ac0f8b phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:32083401 uuid:b736c812-e614-4761-9172-f97948380601 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:32083401 uuid:ba8d8ab5-204e-4d28-a0c6-e4ac5dc651f8 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:32083401 uuid:41b3d9fa-b758-42bc-aeee-45e375d36bf8 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:e09df786-2395-45e4-b013-6eb098c22301 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:118c74ec-d5aa-4b28-87b7-a8abfab589c5 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0012584 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:32083401 uuid:6e60b2ee-fc3c-4572-ac7c-894d9b04673d phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:492c775d-7ee6-44e7-8039-4b24652bb4a8 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:d55b5efb-a5b2-4b0a-bf94-8b0f9df73059 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:f665415f-1541-4060-94b9-0496839f5702 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:965866e9-4aa0-47fb-9574-4686deea1737 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:c47a9eff-2067-43c5-8d31-d5a286dff4be phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:5e1e7fc2-7212-449b-a938-f7a22cdf7c77 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:1651f19d-39f3-4385-8b0c-47a86abf9460 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:6958737e-925c-4dd2-9f5f-795c7ce0b819 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:eedf6246-e44c-438d-bff2-480c43e3e0a9 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:cc9468d9-7aab-465f-b0fc-fbdfcd9e5822 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:8248541c-0987-4f0e-a832-bfe45e1852cc phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:833f5536-b9ab-44bd-921c-bf6ad805aacc phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:90f49bd0-d464-431e-87b4-5d9f076a9938 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:4df97351-2002-48eb-b4af-e1574a0233d2 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:8eb6090a-8408-4b66-8a6e-35f0b30f21da phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:15990ef1-bf4e-45d6-a126-39cb125df409 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:df843740-b4a1-4917-99f9-0da263ab8898 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:f359c173-15cf-4a7b-8cc2-2d91282041bf phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:782600ea-13b0-4258-97cf-255b3a724217 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0011381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:d7a59884-3828-4567-a07c-11718eeba62e phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_phenotype HP:0100272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:6a1592b5-b809-4540-90b7-d350e1aa1231 phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:675e0971-a5f3-40be-a5ac-b268291ec3bd phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:920a9833-c065-48ac-b8a3-cf80035f34c4 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29914387 uuid:8f18ccba-60d9-4c5e-9da6-6b5bbb365799 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29914387 uuid:f9dd2539-ea69-4bea-9406-3315d007507a phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:b56e6e59-6b4d-41dd-9084-96c8031d2373 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:b769fad9-ea02-405c-9646-6400c4257da7 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:6462cfd4-f665-4ae2-8e47-0fd35f6083b2 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:6dc230ff-eb7d-4f94-8452-249efbfdffba phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:c4afa56e-74eb-4420-bb54-b9e15ef8675d phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:40b78896-6f94-4375-ad28-797c06f438e2 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:944ddddf-87ba-44bc-8ee9-fa8b94f3a203 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:9ff9f63a-3f54-440d-9f9c-aa305503c2f0 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:7862d7fc-ba8b-461f-ba74-13be3e2cc739 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:bc5e053f-da46-4ae8-865b-5af6817b1838 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y7M infores:phenopacket-store PMID:29914387 uuid:c085b83d-f060-4a41-8f05-212e6f43d13c phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:29914387 uuid:47f5f197-fd42-4446-a553-a1e4c4bb8aab phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29914387 uuid:38ccc227-5e89-4cf9-b5b0-1c53e1b796b9 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29914387 uuid:4eb971ec-b846-4cd8-bbff-913e3bd368c3 phenopacket.store:KMT2D.PMID_29914387_patient biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29914387 uuid:2f3e4291-8f88-48ab-baa2-81fb2456bdb9 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:ba8512e2-a045-4075-9f77-53440bd69a12 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:5a2b5fc7-bdaf-4145-a6b4-9259c7ad15b5 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:a454811f-98ad-4fd5-af8a-06cc9b88c93e phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:bdce5c99-dc3e-450c-9d2f-e0739ed672fe phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:4adf1ad4-625e-4fbb-a9b7-fd030798951c phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:5233ade0-b95b-47df-a1ce-ec36761bd00e phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:068b2494-2e88-4879-a27a-c2767829ee66 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:8eafb492-4586-46a6-b9b1-7c5f5f6785d9 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:ae2ffa6b-e7ea-4c18-8685-2e2dd1a15d65 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:2f95dffb-0eb0-4333-ba92-febd7fa6d680 phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:9550d162-a7ff-4636-a2db-bcf9a731603b phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:93a4043f-024c-40bb-b235-076507cab5e4 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:aa0ef0e6-33f3-4fcd-a1c3-f33b73a41c8d phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e08aff27-0c14-49b7-b39e-5e2578d3549c phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e795eeda-719c-46fe-80ae-826f8dbd5064 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:78fe9eec-839f-4a9c-9684-cf07156346f0 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:826dedcc-cbe4-4a37-9340-2eee28f78395 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:20d509aa-3562-4725-b97b-ecceca434b7e phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b3635a39-4623-432d-8086-a6ff7d440ba2 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:af039ac0-ec96-4f42-9d87-7c502be98623 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ada3314f-09cf-4fbe-9887-f6e21791bda2 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f9dae459-f395-457b-844f-228db55d3002 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:4c98b240-a4de-484f-a388-b5887de2a47c phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:0e52a9b8-f5ff-49cd-9961-964b73142d68 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b174a5a7-eca0-4672-b345-786417211ffa phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:34a2aeed-b559-4da4-8dc7-c9046c49933c phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d86003d7-52e3-46ae-b259-57f8c0ec2ffa phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:aebf8421-b8fe-4efb-a0d1-6beccc881f93 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:143a24f0-5110-4d92-9bdb-0b36ce3fc73c phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:31dc52b6-1a4c-424c-85f1-65d7573207e7 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:8417ac69-639e-4d75-8d1d-000a1a1f46f4 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:702ad6b0-72bb-4d95-a093-1e1b1c334cbe phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7b7f9edb-3802-408b-82a8-c49f618d8f1c phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7baa56d1-bfda-47d1-9cfc-10ed55d2098e phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9eb7589d-beb2-4d19-9582-deda9bd7d1f9 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:638d6b15-7f4d-40d3-b45b-c0a5433ed76c phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:02959ad8-f658-4b63-87fa-5955569861b8 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:27bb64bb-3a4f-4e57-9963-696c6a395ee8 phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fab730c8-85cf-4f2b-bc2b-b4e14814a1cc phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:28faf0b4-de3e-4568-9c6c-103f1f20c7bc phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:1f56b9ac-d26b-4062-a5c6-8f8702bae7bc phenopacket.store:KMT2D.PMID_25142838_P11 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:7df571db-26b6-48d9-b40f-1b7e55eebf78 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:112a9f8b-57a5-4d80-910c-ea9877f738c9 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:9ea7e23e-2af5-45fc-bcdf-32cbc1025f02 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:029c9858-decd-42a5-8a21-ede50064bd3c phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:b49d6810-204d-439a-8b82-579ab1711985 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:e91feeb4-1896-4735-8fe5-bcd721f0a777 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:748976e4-640e-4e11-8f55-4e59be2776e0 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:aa6f8649-9a1a-45ca-8c64-a48c8c92136a phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:d749b7c5-5663-4b60-a156-a6404be0cf69 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:c8ad4872-e207-4f60-9cb1-55fc67154db5 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:0bc2d027-7776-472d-a8e3-8b237910b164 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:1adcfcc0-bf2d-4cc8-af99-061a5ea2d4db phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:e5b22885-4b73-4f87-83e3-dd62ea75f520 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:65559b0e-85d0-4d25-a45a-ff7cec59bb73 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:c41819bf-66bd-4907-ae6a-928f7b5b9679 phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:5fec258d-456f-4000-b353-3367a303e5af phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:6855f05f-5945-4495-8ac9-66ff23556cd1 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:ed1b557a-ea35-472f-b36f-ad7ef7ced9f1 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:c7538edc-5619-43ad-8674-4f13ac1dd8fc phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:a6509d9f-5b6e-4e05-a65f-172c9e36210c phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:c9411c90-f2a2-4768-a83b-068cbfbd9d3e phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:6068898e-4332-4eb0-8acc-3af7edc63eb5 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:8f1ad6f9-fba3-4f27-8c1a-d3be5de1d135 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:a9b54c8a-f16c-4a36-b26b-fe46f240d15a phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:5e213314-dc35-43ae-a407-fd418ca979f0 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:f2cbe947-d1e6-47af-addd-218c3dc943cc phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:21cacd1b-2bdd-4173-aadd-70b82cabe18f phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:7bc1bd43-4894-4f61-939b-a0e8cb89efed phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:55b8709d-f32f-4a5f-b5ba-07628c53dd22 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:7899d25c-da16-4d92-b260-6be53d13f261 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:b277003e-fd21-4734-afdd-bc58e5eb0f08 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:bcb37c64-37ed-4ae6-b697-10f6915de205 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:75ea014d-81b2-424f-896a-b685f73e03dd phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:6c78e02b-7c23-4265-9aa6-6f733c51e7cb phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:25896430 uuid:e077866b-ccd7-4c7b-aab1-0e281d142033 phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:1c7d77f3-aec2-458c-a65b-fea08be1620e phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:3d33f392-be8d-4d68-a808-0c7a8c85d797 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:bbca6744-e1df-4a71-9ac1-59373dce1993 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:b4f09e9b-ea54-484e-9823-82e21cd22672 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:2aec6e4e-2fec-4130-8c54-79c8df220e0d phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:05815b8a-e50b-471c-9575-966861cd7e7d phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:34ccd075-b70d-4b50-b444-8c66caaad184 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:233fe7ee-26e0-4592-8c46-183549f361f0 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:35c29509-9b81-433f-a29e-7ec0b01351ca phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:b6959516-8ee7-4142-aa81-46bd6888163b phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:8954ceaf-7aeb-4e61-a208-ce2e44b47f5d phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:74783d02-0a04-41f4-a094-73a3c22398f5 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:eade4dab-698a-48c0-97d9-3b7857451929 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:4fe5a4ee-b0dd-4da9-b5f1-7a4c1e683d1b phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:27f7bcfd-e2c4-4946-9ccd-6a4bdb7cc46c phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f56e4cd3-eb7e-4d53-9211-eaddd09c8c69 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:95223ee7-c878-404a-8c0f-7e514d53bd01 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:20071791-1c2e-40d8-a673-e8dcd67152fc phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:85511e07-9d04-4b02-8506-3b4fc27113ba phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:2a5e2568-0470-4d6b-9cbc-89e2c2b01079 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:4cb3f0ba-8de3-4e44-933f-a1dbe40cd429 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:c3476752-92a4-42a6-82d7-8a9d0fd31ad4 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:9538bad5-b5dd-43c9-ab62-bd047f17d770 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:1e0dd6b2-3574-408e-bca6-6372babb5439 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f1b667f1-d516-47ce-be12-046000f8dd96 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:88864016-59a9-40e6-b6a1-12b5da4c0f96 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:baf172d4-5937-499a-8023-fcf951e251dd phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:6d5d86ba-7056-4f08-abac-53f6c195084c phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:93426ad1-1de6-4d49-9f3d-388563894d25 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:95c300f8-272a-4c21-afa3-ce219325d8f2 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:09b44f09-90d4-4371-949b-9b426ad8ba18 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:bfa1d9f2-b44f-4ecc-94d8-0eb89e48046a phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:ecfb3b10-6851-435d-a493-bfb17c84d0c6 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:94ec9dc9-7d25-4a6f-a708-c0050f5c8bc8 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:64949f58-9183-4c09-9634-651689e19ccc phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d5e568e6-7d61-40c4-a02a-9024b3cb164c phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:b4418a52-109f-422d-8a5c-38980ad2f44b phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d0467037-6a82-489a-aa8f-07d7b94558c7 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:31727177 uuid:d554a1ef-f456-4da9-9655-c4ed11d48287 phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31727177 uuid:77dff7af-f727-4d66-a5dd-b72845756654 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e62449cd-be89-44c6-8324-57db9fc86cb9 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:83db516e-d767-409d-bdde-1e4f4f969998 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:43154d38-9ef3-4064-b52f-e6e520b308e3 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9580ba37-8e54-4b0f-8eeb-18f16bb6edca phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:a3b70445-61ac-4d9f-8d52-f4baec6b6af8 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:49b69737-312b-4769-8651-781bc306a312 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0dd7a6fd-a7d4-4862-a17a-7df9c3e29a3c phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:94187924-2c42-4c26-b664-f2d626273e34 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:44a0b187-73be-4392-9f43-22a868551718 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9f344422-c0cc-42b7-9978-f0fa6b069900 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c53a9b2b-2d3f-45b1-a445-df835b66203f phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e6789f47-acd6-41b0-995f-4f1a4b5d41f0 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:06c21439-7c23-4622-9532-3f21f59533a2 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:86b23d6c-6432-418b-9d95-0c553490fed1 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:ff0811c1-acf2-4f4b-95a4-9752f73c2c99 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:866961a8-4c00-45b6-aaae-f293c14beb0f phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fdfd79c9-f07e-4838-bc48-d2bf59ed6d56 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:ea5bb33d-7b21-47b5-a223-78865b3ecaf0 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:074d7521-0f4f-4ed7-979a-4e82a650251f phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:30b45b84-c356-48e2-9f79-e2b7fea94d0e phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:0d8d38b4-0cce-46a9-a808-f14ac9e676c9 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2c29bc07-63af-40e9-a4d3-ae14681c4595 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:6410f75f-3aa0-4337-8a57-e9b82e143c7b phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:6b3cc7aa-a98b-463e-8732-da340b67a3af phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:4e878f8e-05b3-470e-ace4-25911a615e2f phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:df7429ea-329a-4394-bbba-62d314fc9908 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:07eb6cca-fef3-479a-a06f-71b1d49160f3 phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1daf34d0-798d-4d74-806f-8467b146c07f phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:033153cd-573b-4234-bf8f-1ff6c3b300be phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:d54f9298-bdfd-4eec-86d9-749263753b9b phenopacket.store:KMT2D.PMID_25142838_P9 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:ffd8637c-1b7a-4d0a-899f-b6da54aecbb3 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:085328a8-f5f7-408b-a757-3b5ab24a6039 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:31846209 uuid:c0edcad1-add0-45b9-83b9-1ac4ae35c394 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0006870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:31846209 uuid:31bb9a8f-1c11-4012-83eb-fe4c69777105 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M14D infores:phenopacket-store PMID:31846209 uuid:04868e38-408c-43ec-ba42-03c2a67453d0 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:321ff136-43a1-4109-a87b-cf3e93b44532 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:d2d96cf3-2a09-4345-8851-8e8d13584abb phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:c71bcb0d-54f5-4623-a9f1-d22540ad6abc phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:0347e891-79f3-4bf2-83f3-a6bf855b1e3a phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:129235af-4e70-4a6c-98bc-95742533514d phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:83fa73c4-8680-4f92-a121-26d15f2c98aa phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:3c45a5b5-afbe-495f-ba2d-56f73c6e9355 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:ccdce4a7-c7d8-4154-b1ec-ac7b7637ed06 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:40db7e43-4bcf-49be-ad20-cdb64ff28cb0 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:9b487dc8-e1aa-4991-91ee-17813bfb033a phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:9fbdbe68-bc45-4ce8-8eda-19cb989cf894 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0011950 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:673647ce-3249-400f-af69-4ef65b8468e0 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31846209 uuid:414c4cde-f88a-47a2-bb21-298c16d43aa1 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_phenotype HP:0006988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31846209 uuid:830e0bbb-d9af-462f-9380-6a9ab6a25a92 phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31846209 uuid:2274da9f-565c-4784-ab89-df669be0e19a phenopacket.store:KMT2D.PMID_31846209_patient biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31846209 uuid:5ea71325-efd7-4617-bc4b-a2ff11b3785b phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:12124b32-b67c-4900-85b7-d083a442bc54 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:aae6ea28-bb51-4066-bb76-b22a5e1e2ef3 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:27d19b11-251e-4951-a6ba-a80294a50bd4 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:061c9cf6-d376-4d68-9e7e-39977c4b6b2f phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:4931dc5d-6175-4484-8f21-a0e0d594d916 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:d7059d7f-c095-46b0-83f3-22fc04beb182 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:a6e804a0-32d5-4e0c-ab68-70c0169180af phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:4ced02b4-b6ab-465d-a303-75c25a261f06 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:e29a93b2-1822-439c-ae88-ab4ba40871f8 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:6a9b662d-f53f-4ea8-8816-5dc0c0572f65 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:9fcdab5e-1361-4fbe-a7be-504096e36a6f phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:55acb75f-0452-4f9c-bb7a-1c3155ea8eec phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:5f5bdd4c-596e-4add-a0a2-9090fd848740 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:465152e2-a919-4e2c-bba6-f349d20fd61b phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:1302e3a0-1c81-41e9-9be4-6cf9f80d90c7 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:5279d38e-af1a-4488-b1e3-c1d127ca519a phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:874b4de3-55d7-4a80-af9f-9abef0769266 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:25896430 uuid:32c313d1-5600-4fba-8f0b-5a5010a71bd9 phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:06feefda-e420-4c81-8740-d3e2a7118775 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:08e86ab9-99de-4791-b834-63b2422b2bbe phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:5574c7db-e0b3-487d-991e-9628c0dbe04f phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:d714a688-c0d1-4a69-a7f4-0c3fd9b32ba7 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:2441ea28-9e50-4e2e-bea1-d40922447d24 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:486b84dc-55ce-4510-9755-02dd9f410d33 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:ee4853a3-a6bc-4483-a939-b572f3f90417 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:8cdf4e21-2732-4d7a-8627-78cc6d6c25bc phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:bf72201d-a9a7-4c42-ad3b-b7df82fb8204 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:a18dbbb6-aac0-417d-a53e-34241dd5b205 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:732d3137-de5f-4aa9-9db1-2b007098919c phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:1d03cd50-53c3-447a-a4e4-02ab2ecee3c6 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:2c3982b6-18b0-4a77-aa58-99dbd35aee8c phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:809df0ce-385f-4b57-b0d8-6c4180f32bc3 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:4725bfda-a17c-41e8-b5a6-0717dc56d65a phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:a343ae94-9c81-48a8-a6c1-27d1729717f9 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:4d418ea3-a99e-4c56-b7f2-aa0ceccf37ac phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:dc5c9855-96e2-41e3-899d-f535658ba59b phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:4b6d184e-209c-4b7d-ab99-cf7fa0f2d4f4 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0011381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:f5527648-dfef-4b9a-9273-8e78a0899835 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:0267e878-e32b-4312-8848-958b6cd2ed16 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:c59e86aa-228c-4088-8f8e-6ff4e320d0d1 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:14c87ad2-1a73-473d-b29c-561f364c3ba9 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:8588c4a1-18cb-4291-b725-60c80df91378 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:48cafe86-2b5a-4d9a-b4c7-c5ac539f819d phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:b0457413-552d-4516-bdf5-1db4fb44dfb7 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:22bb7faf-e4e9-4339-8b82-13ad76e76ad5 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:488bd078-f2a0-491d-aa46-ab1fd0c7945e phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:57a55ee9-4768-4f8f-a1b6-220204cfa392 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:98535301-649b-441c-a04e-db841b041877 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:03f5443e-7122-45b4-b21e-1dd1a3858bed phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:9d9906f9-d9e8-4e23-b1e5-ff6327171bee phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:af01ec3a-0a0b-4e59-9f65-0202b686dd34 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:445228fe-3855-4edb-aa2f-7c10450e8914 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:7ca80334-b2ef-4853-a098-02c860588c2b phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:e6117abb-8ddb-4e70-8850-41468fbea7cc phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:9e976391-3607-4529-9214-c03386d33bcc phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:51040992-4268-46fe-89ef-f4e1c56d87b2 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:8f0a7808-9e73-41fe-81b3-e3be70c9c273 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:a9e36cc5-1536-44cf-99ba-854047e23547 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:88f39af8-3708-4f73-bc82-87c832041330 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:4467bfee-0a89-4526-b6f6-200011a7220e phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:ba8512e3-cd1a-4108-8512-2bbf14d186d0 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f7ed152b-7a28-41a5-b723-6d8513642f17 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:66eff567-be64-4b74-919e-d592fa8a5426 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f457685e-e978-4cf0-9978-78bc98aa9dfc phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:0bd0b4d8-82db-4adf-ab2d-22d2d09a10a0 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:cc03cb5c-e657-4df7-b15b-7cbbc55580f2 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:ca278c7f-7031-40e5-ae0c-65d976c54dec phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:d6eb9939-1bd4-483e-b583-cc79316b26a6 phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27991736 uuid:7c15b2a8-963f-4f10-98b5-ec410033f5db phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27991736 uuid:eed559f3-cbf3-4f73-8644-62664bf3fe98 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:244ecb6c-a230-46e7-a364-40024a6e3a31 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f10e9a3a-844d-4e7f-b2bd-11ac89b17a5f phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:1c870f89-59cd-47fb-8990-6180d26af42c phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ed57cd1d-764b-4793-bc37-46993f708478 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:3b1e8181-2224-43a2-9d29-a1f5fb717832 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:06fb2f67-e6dc-4437-a1b5-49a4a4ccdfa6 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e6f3a9e7-bd1e-4bf4-aaf1-80bcd2ae3e2b phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6af23cf8-a302-4c6d-a722-75b37ef8f290 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:224c8982-c52c-49df-a772-3bc4ba2130fd phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:7d95c8b6-1882-4c97-bd9a-3c1b25aca811 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:17310dc8-d298-4e31-a852-f755d5f31357 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:cdb1d34b-a807-4311-a7f0-f45a7ab3f947 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:de531cd2-0e18-49a9-86f6-7984e5e890bf phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:16c04c99-751b-4f83-89cb-c0d1f6f46031 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:b07ef081-aa4a-47be-b7f3-79aa74be68ae phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1389c7c3-c520-436d-848b-a45f50494cb4 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:21ae67f4-f1fe-4636-9077-5b54596a54d9 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:5f34c7aa-cf69-4ea3-b0b4-c44de941e767 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:861b5785-4b3f-40e4-9d3c-9c64f9dbe2a8 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a5ac0aa5-7073-4b90-be05-45d0622676ca phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a11c0644-756b-4e5b-a286-a2457a78bf2d phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9f6e5ff0-f173-4197-997e-cb715f3b528e phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:699d329d-a4c3-4042-a1d8-236e30ce48d2 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:883e1cf2-01f0-48a0-8873-3cc4430223d5 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8b71d190-96d5-49ef-a117-ea5744abe16f phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:cf27f11f-2bfa-4049-a944-daaa5c382afb phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:f694cea0-7475-4bb9-8e06-aba95c232666 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:99eae566-a4ff-480c-a064-fbdbf8189da4 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:137a235b-3da6-4f07-912e-e99ce08b188a phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7c508a63-c05f-4f2c-a683-3eb949c84998 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1f33b418-c2d0-4974-92d8-3f811a42a5d4 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7506175f-d266-4734-af75-a64b4836acbf phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:fa41a1e6-6511-4b28-b54b-53fd329c62a2 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e81f1597-370f-46f7-8fe1-8b9d679bf3b7 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:64627a29-3f54-4195-a9af-4bdd56f67b39 phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:dfb6822e-cc42-4e57-b9d0-10104931f810 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:deff6106-cb35-412e-a4b0-fe4ec501ce20 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:a567b4cd-9b70-4294-989f-fcfc84e71d2f phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:e357b067-4a34-4662-8246-392f8dc2566c phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:c861dbf0-11bc-46c4-b430-100f6f0be051 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:7fbccd10-0f92-40bf-8125-0de08bc8c6be phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:8122274c-264a-4166-8214-d78804083ea0 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:d5f9475e-c526-4636-a5c5-7505f8283938 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:0203da79-98fd-474e-a7a0-7a8c7ef8cf1b phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:a4783ad4-ac8b-4383-8149-cbd5fbbb655c phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:6a860682-dcb2-4777-bc31-dcd1f7aa1969 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:1a8b3e5e-583a-4576-b77c-3a70cfd28e74 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:a82f1e8a-7ca1-4a85-bad2-df873aa5c9de phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:daf9beba-0cac-4b7b-9616-5cf212d3984c phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:88a0d6fe-0cca-4ad9-bd96-2070f32509ae phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:4aaac2e2-5f52-4d15-89d1-0b5b97075211 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:1ead61d3-c130-4b2e-be59-28d0ed2cb0ec phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:de3218b9-9880-48ae-a2cd-08ce51f7fbec phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:5c9cd9d0-5de5-4237-a9e3-747c20bc68e6 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:eb17dc28-b750-4bf5-a4e8-b49f1ae7ab64 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29482518 uuid:6fa3046b-5d3b-4278-87e5-8883087ccf70 phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29482518 uuid:6067e260-11d9-44c0-aca3-baae08a57948 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:798dbdcb-fc5e-48b6-b180-cdbbedf3ec02 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:784fd445-45fb-43ab-b53a-79aa6d113678 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:4191a626-a8fc-4141-8cea-6e741ec6c886 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:420dc11f-2883-4644-8c17-b9135fb33f96 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:a2fe5461-71b6-4f76-bda1-db5f445f420d phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:e6849159-3b4e-433c-bde2-1ce58a84c556 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:5f505b2a-b29d-4806-b281-f6308221c0e6 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:42f39979-f822-4ded-8264-859f61576498 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:3c0931f6-65dc-43c2-b5c5-2a2f8911dac9 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:912729cf-3a42-4f2b-aa9c-72ed274a6702 phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:7f0dad32-01ca-4223-ba7d-78158578b3ec phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:2f5c5b0d-725b-41bb-84e7-31cb50f2522c phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29482518 uuid:5e0c0c56-c9c8-4039-b258-b1bd5bd3e34c phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:e8e98e4e-1a38-418c-9d63-01bc60a12a20 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:f6222f46-4770-46c5-a2e2-bb68cb85ea2f phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:4c9a6e2b-77c3-498e-bfde-4af8b79b9064 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:520b79b9-00d5-4e37-a8e1-9c909cd4aaf4 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:448e832a-0d02-44ad-8ac6-29e65c69616f phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:fbac6b5f-cb3b-4b73-9234-1504e4b0944a phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:57c7210f-769d-4d8f-b603-7cfbb3fbc1bf phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:c3fa50dd-d94e-4ad1-93c5-5d3b48b4d1bc phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:4004090b-caa1-4395-a506-e419b8c25519 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:c5524905-b9a3-48ff-92e7-2f4457cd4e65 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:1fca20c1-d964-4121-bd74-1c1462342ba8 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:37974bdc-32f8-4abe-9ca1-c9e006105819 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:649ac0d2-526c-4018-9bc6-3fc37f816548 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:3b5b4108-57b2-4ed6-b6b8-6eddae97d85d phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:70d8cb10-09bb-4da0-932b-99ca3caea6c4 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:4f704e86-e714-41dc-88b9-4c79abf93d76 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29482518 uuid:450f2d22-5c5b-414c-854b-f90c08d0a92c phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482518 uuid:cb6df0dd-3817-4c08-be8d-df71b55572ff phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29482518 uuid:d39b2cf3-29c6-44b4-b4d4-39b148324d6b phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29482518 uuid:0e8e0972-7796-4062-9397-042c1e071803 phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29482518 uuid:8d35c7f6-80ea-45e7-8eca-755bcd285cda phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:c62965c1-b45d-494a-947f-82407b99afc1 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:563ab0d9-a2e5-4953-af35-68bfef591e86 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:026e36a6-a41b-4e9c-b425-ca005a5ea538 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f98403ab-bab5-41ed-9f01-4604d67ddbbb phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6667eb25-2f96-4090-b694-2596559a0220 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:fcc197fd-c394-483e-b124-24856184047c phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:5f7189f2-0d36-4033-8bd2-5994ae23ab23 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:bca3e417-2e69-45b0-9abd-25b8887d95f2 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6cb0289b-605b-421d-971a-3407d08c7f89 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f29408a1-a3cf-43d9-a86a-9b05f9901d61 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:686234a1-fd69-4be6-9fdc-2b82a00d2b09 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6e91db0b-3a55-4fb7-b693-ab38bb60d942 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:b03e981a-de81-4366-8744-1b5a3d026a93 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:98e000a6-6158-42bb-8fe0-98b2e8e37083 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:87d035ae-5960-48a4-b8a0-4a3b913c5c11 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:b85e0719-87d4-4e39-a545-2837354588df phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4f244fb7-e4aa-4c19-a503-0fc0edc72ffb phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:69aedb44-324c-40d6-89d9-18336585666a phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:cfe2424f-26c5-4c37-bbcb-b1e421f21887 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:b585d10b-5cfe-459f-9fdf-ca05b47a5116 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:49a3e320-4d39-4b23-9107-09747438b9df phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7326daa2-8ae7-4c6f-b8df-d8a5c7e530b0 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:84039e01-7f12-4f7f-9a7b-e1db8c7e9359 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:5a2728c6-8823-4bc0-874b-f5a6d7635e5c phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:3da956f0-3665-4e9d-b0f0-30ba882593c9 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:205612a2-f465-4a1b-8792-1ffc4667b07e phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4b399c4d-d36a-4820-9076-001d6d0b75c4 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d36d0bac-777d-48c6-a0dc-c96155733523 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8e64ea37-3882-402c-a752-dd575435ebeb phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:08080b95-a299-4587-ba97-9b1f8719a7e4 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:40c06b19-2e88-4318-9344-4d449dc101b1 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:f1b4d6c3-4d23-40b4-84d2-17600032d590 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:ec801ee1-d36c-49e1-88cd-2fe0e5510ac3 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:f85c0f02-1687-48a0-b597-38ead59eb14c phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a99da08c-8a79-4c48-ae84-05c6027b24fd phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:5287691a-f6d5-4f17-a146-304e5c4954f3 phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:d5045208-4fb6-4ec3-9117-14ff43dc17ea phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:38d08522-0fe4-4a54-a93e-a83e69f4e490 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:3c03123e-9ada-4e11-94c3-05ee6bf82e5a phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:d597fe1c-4500-4098-9eb9-daae89997dfd phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:3dad08fc-5b75-46a4-929d-18a8dc96c0a4 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:5770456f-f5f6-4309-9fb3-5e64e6a9b40f phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:1b579308-ef9f-4c12-a8b1-8dd35dd966d3 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:58c244d5-cfc1-434c-94c9-40ec845a71a4 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:98d2681a-67f3-4408-96e6-e7909e32dab6 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:ceae423f-194b-496e-afe3-99f2d00bd2d7 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:d6901700-6373-4112-b086-f85ad774715e phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:1cbd6b1d-c137-4c29-9d5b-27558218c9b2 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:aec1e7aa-dc26-44c4-a188-2017ade03669 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:500e5dfb-7d54-4f99-a3f5-446a28bd187d phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:a3851a23-961e-4ba7-ae42-518ad1a64ab5 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:c6443d74-ca4e-4c3c-9033-add206986d0b phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:2930b9d0-a8be-4492-be2c-39b971dda07e phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:7fabbc1b-8093-47c0-ad37-ee49a45629d3 phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P4Y11M infores:phenopacket-store PMID:25896430 uuid:28fb09cf-fb80-4d18-a005-b0e6d6265e3d phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:bb48f1e4-1132-4746-9773-8f75776d2deb phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:8c9cbce4-86b1-4b06-951f-e1a3804c6ac7 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:eae80901-101b-486d-83c2-4ff2112da61d phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:814ac36e-e884-4be9-9aa2-8ce5e561f553 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:0714727e-4caf-4aeb-9a22-8c5aa29beb72 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:6446e9dc-e6ce-4751-b199-9584b43f9730 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:1f4564fe-ef99-4fca-b28c-c677b605804d phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:e870aed2-b31e-4e16-8f4d-21a5660c6298 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:646080dd-7d3d-430c-bb2b-d57ce58f7908 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:23b0938f-582d-41d3-bb4c-3c716bf2dd7a phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:ca65843c-5ae0-47e6-901c-02d69c5b5e60 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:7a57d759-8292-4424-9b53-34d22249476a phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:2c3402d6-4bc1-466f-be3a-631d89b282ee phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:8b6e9b5f-6f83-4145-90e2-a7b1a2e458e9 phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:73547fdb-e9dc-4c0d-93b0-96bdb56c3ca7 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:485599f1-4ec2-4346-9323-a2092cd9f663 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:f2fbe84a-ee96-4b5c-8e8f-a512b3abc82d phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:a85f3e6b-5e2c-4263-b2fe-85020c5abf7b phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:bf35824d-4bc5-4e71-b5b3-de24e6005c58 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:d5f8771e-c5c8-42aa-8482-8a29915454c3 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:1ca3c272-61a5-420f-be18-cb22f24946cc phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:7368408e-e9aa-4211-8521-072db218fcbc phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:8c586145-4e88-433b-8ad3-c9dd0d0c73f8 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:a9d09efe-d739-4f6f-a3af-c80d4169eb2e phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:5fb397ab-a553-41b9-abbb-7ed7d325c664 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:08f58f15-e78e-43e3-9b2b-29ec86386b3a phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:10fce2e1-bf5b-41b6-aca9-8049d85e2c2d phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:be1479f4-f703-454c-979d-babe71f55fd1 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:0aff3b26-9d8a-4522-a8f0-174d1b3475a7 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:87b9254f-5743-4a2e-98b1-5a47922f14e6 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:3f61e6bc-dd96-4dca-8bf8-f6e4c2550ed9 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:405dbb97-732f-4084-a974-e26b39732f09 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:8791844e-05e0-487c-b552-f8e72146e476 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:506b6c62-1b41-4651-93e4-9b7b31537f6a phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:9bf4eb9b-aae9-49c6-ac1e-8dc8d6e9c8c8 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:07252bc2-f044-4409-94bd-eaeee7e95679 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:0e08502a-0ff0-441e-9c88-eb1bf82d6a16 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:1046f69e-4e81-41e5-a56e-e58f5063fcc0 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:471400f3-4e69-4b8b-8395-9e5490c8fb94 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:3e5da496-39c9-4c9f-bce0-9052e90104a5 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:ba2618da-3bde-4daa-970c-d8171abe7e14 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:a7f39519-c7fb-4057-be35-e98590763f57 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:76435100-088b-4dde-9df8-94ce6020cc46 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f2014cfa-b143-46d0-8175-ec7be9a7e9b6 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:056b3eb1-e961-4a0f-bcbf-8c397842ac20 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:2509ef6f-628b-4e09-b3b6-0d4897ad0277 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:ca2fa0fd-c5ce-471e-a1cc-f47f7b8812a0 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:35ac4726-6b28-4329-8b38-e747516719a3 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:6517a254-c72b-4bdf-ae74-16089e7bfd7f phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:c94e3cd5-552b-40c6-bc5f-ee00f254b892 phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:1948217b-e4ac-4d8e-81ce-00b99e222dbf phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:31727177 uuid:64966911-6931-4f48-8021-4916a39cc91f phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31727177 uuid:13462f23-f906-49da-ac7f-8480af8bef57 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:3c6453d3-1d1a-4276-a9df-33b03b812bd7 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:4bbb8654-1b95-4b4f-891c-592b9d226e7c phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:436b3ff5-04ae-4070-8ce8-b9eb2f8dcb57 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:3a098a86-14a5-4c75-98a5-9d3621b440d5 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:c26e391e-6d74-436f-bb0c-010953e12b72 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:d9f0563b-35a1-428c-bbf9-13dc360e633e phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:5f294f3c-9471-4eec-9bae-92092aff61fb phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:adf5b224-ae03-418f-b4e5-85470ebfee0d phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:d634a5e4-2dfd-4284-8966-5302d0926331 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:a0acb978-6945-4266-87f3-03079e4386c4 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:3031d046-dba4-4ff3-95a8-22e6e2a776f5 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:6e483cd4-8afb-4fd5-baeb-d1098a37b842 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:6e4c9d33-cec0-4f9e-b259-74ec7af5e3fb phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:cd19ac52-8b0e-4b1e-ac4d-d56ac6af0a6a phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:edc79ca2-266a-4ad6-a8aa-60fbe6449cee phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:da43f9bb-a509-4844-962d-3e961241c4a4 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:2d6d7086-ad02-447c-92f7-e15bb10cab7c phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:87612084-9818-40e0-8a64-53223f4a370f phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:ac90381b-a6ea-4982-9019-21c78febe24d phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:25896430 uuid:099c82c9-731b-4694-bf6c-e7a513794b41 phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:d2b12f19-13b6-413c-9fcf-8a959b30d87c phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:05f87a2f-830d-4252-9079-c57ca63e821d phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:aa9e62ba-7561-462e-bc43-6522c68f9e51 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:e120aa8f-cb24-4131-b14a-d657ba2b0ad9 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:60a5abf2-262e-4de3-8893-a741de2ee803 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:d77112f9-3acb-496c-b777-060bcdd3accb phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:95689170-1421-4390-b41f-6d3c4181fb2b phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:40d1c1f7-3227-46c4-9cbb-11aac97b8da3 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:1bec23ec-91a3-4493-8dde-0eb10c544fd8 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:cb66a6d7-2a96-4a19-9bde-bbdc7dad3fdd phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:61488ae2-7e40-4018-9305-7c2b005ced9c phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:4119fff5-159c-4c22-b534-11a4ab649fc7 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:a9bb0d74-4598-41fc-b776-c6e838327000 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:e8ea8966-d79c-49b5-a195-6f4bf66788fa phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:82918754-34dd-41d0-adf2-ae6a1b509331 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:cdf7368f-3b3c-4969-89f4-647cd2f7ce00 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:1afaaf28-e0d5-4763-95cb-5b0d84a56d08 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:d16193e4-4721-4b1a-8b88-b2b23c14184b phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:573beac8-c54a-4f57-b18d-55358192e03d phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:25896430 uuid:b66744eb-efbb-4cce-9384-f3cddf0b2d44 phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:080bca68-e9a4-4060-99c1-11cc2c9e94ca phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0000161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:a803c2e2-f750-4a22-ae55-986576ce7f10 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:ac4efdb9-e200-4f07-a181-6c8622428868 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:d754c567-164b-4005-aa4e-01260508affb phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:7f338f26-2f78-473b-b299-a5d1ba308773 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:832b92b9-c718-43f6-97ec-0632731340e5 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:8edc7c08-bb5f-47f9-a2f0-90ca57ee3378 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0006988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:cc2ca6ad-6198-4842-b1d0-1de6b69bd051 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:d7d57c7e-f5e5-42ae-8901-ef1ffc76e0a1 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0012806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31282990 uuid:ac9710e7-f986-411a-8fc6-e7c9fd27cf55 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31282990 uuid:d72cd680-d992-4d3c-8dd8-56459b9f3a41 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31282990 uuid:cd0654f4-9b6f-4672-bc5a-d40a1daa2950 phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31282990 uuid:38e9e7e6-e92a-481a-944c-65207c21de6a phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:8c6ebb9b-faa7-4484-8313-08ad32ccdb30 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9860cfe9-a1b5-47fc-8ec9-f746e7c2e8d2 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:efcf72ae-1459-4751-b1da-0c271493d222 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f36cb845-b14d-4e79-a293-72c0f584e847 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0a52ae0a-665e-4f5c-918f-1223c8398fd0 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:45a31bb2-9edd-4c76-b9c5-7d13e300b86a phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:45264848-d9bb-4338-8fdb-5108f5c5d4ee phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:965533ed-5074-45e3-87d0-b4e6f937ef8a phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:7f3b4c70-d0d5-45ec-abd4-2f8e87c237cc phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:327d68a5-f731-485d-85ef-38c14fb53ce9 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:63d7cd1f-c951-460f-b130-1ac0f7b81c38 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b80eef32-3dde-49d6-9b65-cb9621627e83 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:27641642-5a00-4e4c-b766-ed751091d001 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:02624580-846f-4df3-882e-efea922c72f5 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1f6947cb-607e-401e-8db8-e901adb249a7 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:bd22be89-6fe7-454d-bf2b-93e92a7f339c phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1595deb2-5ae3-4a67-bb1a-e9348229e51b phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:268e181a-3974-4c82-8f94-5214b8b08f0f phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:163ed69b-fcb7-4818-b55e-bed2ae0b5e52 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b290e400-4ded-4233-a16c-58b0afe27918 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:101726f4-ab9c-4601-b994-4232493f347f phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:06c2e998-7330-40db-b776-e3f5afc14684 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:ea1d9e82-699f-49c0-a1d5-3fbd5dc44004 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:ef17af1b-c0b9-454d-b56b-591eeae2b453 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:43760fd5-1e8b-4ace-8d66-bea10759c3eb phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c41a8395-876c-4716-8c33-0db23eec6c1d phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:44615a35-cd26-4305-a6f5-0e6fbab16fc3 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1234125b-1490-4ad1-bd69-3fd4799220b8 phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:121d541c-dbd7-4951-a363-7a7780f820af phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:50ae0d24-673e-4944-9e85-04a41ccedaeb phenopacket.store:KMT2D.PMID_25142838_P8 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:fcd64c94-e08f-498f-a16e-42b29bd678f8 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:bd1cdfc4-f395-4fca-b06a-4d4a48f9aeb6 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:0b715287-3428-43c4-8e7a-899e1d5eb455 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:83892dc0-a789-4951-8e69-f887da0b564e phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:17bce9bc-b279-4a2f-aaba-c73df92cec6c phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:d0fc10d0-20c3-4662-a518-c0fe72c60683 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:3f6d0a4e-8a7e-4357-a76c-60f46f7c0ff8 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:a4b3f1d1-a5b4-4bc2-8ed2-a2e1041547c7 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:094d5c41-4c9b-4498-8c5f-9733854000bb phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:2c357279-1bdc-418e-b04f-af529aa409c7 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:29001bbd-c9bf-4c40-a98f-a40468e7c6eb phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:78de6bf7-fc58-46b2-a589-1b1a979d306c phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:276f6f26-4663-41c0-9a36-f70b1599590a phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:89cb9b19-e749-4ec7-871d-e88ac981008e phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:de82567b-f7a0-40a5-9518-77232e59da04 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:9574f265-b165-4ba4-b54a-c1fdea30aa46 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:0225b2d2-dc5d-4e65-a7dd-cec3151cb91b phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:9d9eb2ae-84ed-41f2-92f1-6a6b6ea251ee phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:5a92656c-dcee-414c-92d3-e4b49feb5c97 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f6aa4967-b605-423e-851f-eb51d2d26a46 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:68f59fd6-347a-40b6-b045-133db290e85a phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:046e9b92-b0c2-4f89-837f-12878b2c242f phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d66532c4-b5d8-41d2-8630-7a16e7ef82dc phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:2d1a085a-6865-45f1-9279-d113902458b0 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d24e486f-3e4c-4485-94dd-5877d741efe1 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:85b2e263-dff2-4c7b-bb66-88c7785ff5b7 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:06ad047b-d234-4551-9fc2-4347699eb38b phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e65c5647-7d62-4f58-8fb2-9afd73fa6a49 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:82f31219-968a-47f3-8757-d12afa165bf5 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:4a64e472-a2ef-49ed-9d62-b85a8781c944 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:eccb15b2-33df-4051-aebd-22a334c48290 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e171ba7b-907c-4f98-98a0-5143b81d8930 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d34388b2-5f3e-4d59-9a27-5f06a5edb177 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:311fe961-1d40-492f-88cc-22600fbb592e phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:805f038c-aec4-4706-a77e-8781b6beff66 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d357adeb-fef8-42bd-b240-719d58a93941 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e4b738fb-4c91-4a07-86ab-7534c9178e60 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:605f7a2f-47b3-4584-a3fe-e921be53d866 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P3Y2M infores:phenopacket-store PMID:31727177 uuid:a2c445b3-eb47-4a98-8ff0-df1885672d92 phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31727177 uuid:a879a793-fecf-44e4-abe5-33e0a4928ba9 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ad5422fd-b5e1-4ffd-b2c2-1fab2ea5e7d0 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d33352ca-64a0-4daa-b057-bad3b8d015c1 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:5486ca42-a851-4bca-ad2e-ccbd43926801 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:036f9f6b-235e-4122-a7d0-31db33981cbd phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a8e8de4f-f961-4ba0-9c96-2ad7e6be348a phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:990a2b93-a688-4828-8500-0db87bb52417 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:fa4a6629-0325-4fdc-a92d-d5275399d4d6 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:9d3b4f98-f209-4225-97bf-05632bf53436 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d4af8819-b417-486b-b441-8f6c80a5e03d phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f1bcd39c-f68c-416c-adcd-229bcdadc89f phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:bd5a7a0f-8753-4c91-97a7-296d15004bc5 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:600117cf-178e-4869-857f-c330a92fed7e phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:328634cf-e3f2-4bf1-a95f-af5ca41dfa3f phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:14971420-5e1b-496b-8251-6187c49871a4 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:2679c0b8-00e9-4543-9801-c61ab5ac2313 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8c7b0566-e89e-470c-a7f9-b345bc273886 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:543108be-f581-4c76-b578-fe16d8566369 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1b7b0afe-2155-4707-a805-47966c622230 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:cbc07dd2-de85-426d-959c-ceb4d398aa13 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:58f8bf06-6d86-4490-ac78-53dc9030a664 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e81363f8-c8ac-4525-8c00-212a8e220f94 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:23d16fda-2a9e-4e58-8f01-6a626b1a2ed9 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:2a4882fb-e699-46e6-8dae-0dbec3767ded phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:94c49254-2cda-49bf-9ee8-802bb82dca52 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d57ddfa1-d085-4487-a8be-030460862863 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:12b8fb91-6511-44a1-9c7c-92848dab3ae0 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:fcebbe11-800b-45a2-9238-0ae834595d08 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:63b2baa0-5ebf-4351-bc04-ccc3315fd7b2 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:14ea15ec-fbb3-4476-ba4f-20999837fdb4 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:75a745c8-05b3-4d15-94b0-588e056bd0ef phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:df842633-c93d-4357-9538-b215a35b6b8d phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:480c0422-fdcf-4ef2-8b74-66683811e7b5 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:634ee59c-996d-4af8-9f6f-ca0c0d539de5 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d3ab4f50-9b0b-4cf7-a96c-d7fac314c491 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:14032f7d-63f9-455c-8ef8-af7618250172 phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:ba12a4cf-9b30-4840-8ae0-478672c5f84b phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:5a33ac56-401a-459f-9326-0369be09a64d phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:6b96226c-014b-4660-b980-c0a8ca29c35a phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:fb339c28-f709-4238-ab2c-180142bd0925 phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:27998e92-ecdb-4874-9db1-9139e9a17d35 phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:a7bce682-44d3-4a0a-826c-4967381a7988 phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:ecd81f26-ef40-4ab3-b77b-ea8efefb06dd phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:f3c8e892-58e3-40c4-8b0f-abc814604494 phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:dedc9709-40a9-4319-96bd-8802a4f2d525 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:c7d857b4-5859-4d4a-a72e-1827fb53eabc phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:a99f4f77-48ef-4567-905a-af1690affdea phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:7cb52d94-6932-4f49-9f2d-f87b173e99f8 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:7ec61f62-fa7d-4d76-9dde-538948dff804 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:8c0115ea-e34b-4276-a007-d140982cd351 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:e3ff9762-55a0-4362-bf59-5a1f6b5f37d7 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:22af0253-4df3-4251-9985-5645f3817762 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:35060672 uuid:ae465e17-058f-4c82-b012-d771c199c14a phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35060672 uuid:d413f8f4-5692-4958-9c5f-2bba09ee0a2c phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:e6d4ca71-353f-4645-aad0-e3b57f1aafb1 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:4ab414e5-7567-418e-a03b-7b15afa8e023 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:e1bb821d-59e4-47ea-aa08-a408f334d1bf phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:c73cdf70-9a14-44ef-aee1-166c511ff8b3 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:421315c7-eb9d-48a5-ab1e-34ecbd8e72ed phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:59f4a4ae-bd3c-4330-87d4-72ee4cda21b3 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:40f762d2-ecd6-4ca0-9d4f-92db2b56d90f phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:5174bfde-b444-493e-9113-0d514be33f3f phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:28983df7-0565-434f-982e-d791ec50fee3 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:96ae8ca2-f09a-43fd-b158-b4ef9f6d184c phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:dcd33b64-2ad5-427e-a704-befd0e7fcece phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:c27806af-81f8-4ef7-a4e4-9a9b61c73c7a phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:66931038-6a07-4a1d-964d-82e7d35c6657 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:d426330f-9a2b-4cb5-9c1b-3c0de1be0fd2 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:3c82132b-8ca9-4e86-8394-4c0416ac49b7 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:24999a3c-38c4-42b9-b6da-482e00c1a350 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:e5275811-330e-43e3-a61f-93c08fb83dd9 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:c39952cf-b445-490b-a24c-d1f72d5657ad phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:0c6fa5dc-06b0-42ca-a48f-955e2e033bcf phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:3ce6133f-4e77-48d8-8b5b-850973a4181f phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:636889b9-7a17-4361-8b8b-fbe1cd3687a6 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:a6983e43-f91c-4944-830e-752bad35c0cd phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:8394dcc7-0497-41a0-8d71-1895e0ca451c phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_phenotype HP:0001750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:9869af01-ee6e-4888-a7d3-ca174070ebc1 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35060672 uuid:a92d0105-5ef5-434e-a4fa-868e392393c0 phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35060672 uuid:7ad558ac-817d-4a2b-a11c-53c9b035c9f1 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:32083401 uuid:1aa9714d-0961-4403-b493-32fcde15263d phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:7b4b78a7-bc0d-4bec-9698-eff72f902d9f phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:d8f6b8b2-c4f0-4709-ada2-5039c1ca1015 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:7bce1dbc-0c7a-4c92-9ad4-7b8d2d048d45 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:b1b743be-956b-4b55-80f3-6b680fb8d680 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:77c0334c-13af-4fbf-9b79-e9ea8b764ca5 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:73a7b11c-42bc-47a1-9c29-f48e58f0eb3e phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:a45cdafe-c0d0-4db0-b94f-07520c37542c phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:20ba20c2-669f-47da-aff7-e28f8fd73da7 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:cbca32d1-6cd2-4445-af18-60b96b185248 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:998afc44-5aef-43f3-908d-50aa97cd85f6 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:4b6ca920-be2a-4129-b26f-86a97ea194c6 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:bf78dc6c-8359-49bb-9f9d-a8f69f782deb phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:d53e052f-1224-44e4-b048-5c8cabc26b20 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0100272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:f4e57758-b85b-4b07-a281-35f3cf58a96f phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:992317ec-bcd6-448b-a90d-8c0653a9e80f phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:c7a2b142-5fe8-4bd3-ba3c-4cebb3570b73 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:15da3f06-3c23-4eab-875c-81aec5d23dce phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:046e2d51-e359-48ce-8437-77988538d1c6 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:69b9899a-d55f-4080-a65e-1d72e800dab1 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:c98d52a8-61d8-456a-a8dd-d8b75dfa5afe phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:4850446a-600b-4647-99dd-d35b1e7b0e84 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:5118c748-1550-4cb8-952b-993abaa4bf36 phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:4e09c5bb-a7ee-4a0b-87ac-ad6669ba3d54 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0012806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:c89e0bdc-fbb7-4fc5-bfaa-cecaf5aca4a5 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:80a4099e-424a-467f-a34f-ee242cd57d14 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:8dd4c5f4-82c4-40f5-b357-db7fad284b72 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0006988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:850dbaae-bbd4-43a1-9795-394d2e8be859 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:690f0c12-2b29-43f2-b644-5b454b842107 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:623ee8b5-a68f-4ad8-a8c4-a13c599a8745 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31282990 uuid:63d2a308-03e7-4fac-8f8d-24ba54bd3943 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0000161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31282990 uuid:d5e8a8f5-6baf-49e4-973e-27af9fc86c81 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31282990 uuid:b061d4be-7472-4e81-a046-1d05ff89628f phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31282990 uuid:54ff1852-66b7-450b-b7ce-8aa20fa08929 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31282990 uuid:7cb29f4d-1ac6-4738-9064-6f322be3725b phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31282990 uuid:3ce5f7f5-13e9-4f9c-8cb6-382f1f47db44 phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31282990 uuid:f58df73d-6472-4b36-b8ed-382fe7156e09 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f7cc23c8-7deb-40aa-99d7-d2fdf52a95d5 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:d17a88a2-2dd5-4ab5-854e-374409d42d9c phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:c80012fd-b702-4c48-8097-8ada7ab0eb98 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:8333c84e-d0f8-4ff9-865a-0287d5f70979 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:4a6d32a4-0395-4ee2-bf33-40f82cd4b10d phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:2c27ba10-22da-4403-8a35-0593d788997d phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:227872f3-167d-486d-b38e-302516d97fe9 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9fc8ffa9-3009-4e0a-a903-b30dd4784fff phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:42055c4c-0ee8-4ee9-94d4-3ee695b2491f phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:841d295f-88bb-40bb-a86e-3c22fb164048 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:83cf7348-ac7b-4784-a82e-70446bce917e phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:a60bed71-dfd0-461b-8a88-d3e4ac3bdb23 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d77490d0-b34a-44df-8a27-34e971b2c314 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:995bf0bd-3728-49cf-a0bc-f8897e235aa7 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:6d12a25b-cdb9-46ef-9c00-c509e38c6719 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:26cb4f00-3479-4485-9a2c-b610c9f56001 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:3fe511b6-cfe6-4ac5-99bd-ee504f947fde phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e872a8c0-d013-4a52-a2ba-2ec5c60750b8 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:81c49e7d-c732-4b1e-acc4-989c6a59f189 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:bef44c50-e8f6-4ed3-8775-bffd2db618d7 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:95aba95f-e8de-469a-9fcb-f46c0b4b8a97 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:43383768-fba3-4bd0-a51f-afc3d562c8f5 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:33dcdf34-3a89-4e09-988d-7ec008d52280 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b79ee350-aa21-4059-8333-c6766a98d4a7 phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:640882e7-fc78-4728-a55c-dfb557e03cbf phenopacket.store:KMT2D.PMID_25142838_P2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:905fe09f-158b-45f5-9947-9c6765002229 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:34603ee8-0607-41a2-bf5a-fb15f8cc735e phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:61f10b37-e08a-45d6-ae21-0a68964a14f6 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0594830f-8b18-4218-b7fc-9ff7dfcfffc3 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ed2deed3-ae98-44e8-8165-81d2d0b8463e phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:df213150-87db-4efe-96d6-5ff5b074f380 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e07d64c9-cee6-4bdd-87fc-91ef2e8e0fea phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e445a322-ac84-4492-bd38-068e8238dc25 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0dbb6702-8da4-4f36-8b12-67f385a8f45e phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:4b6722e2-d5fe-44c2-91fe-9a9f775f8f7a phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:7f122b8d-58a2-44d6-8958-1ba7912dadb9 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:8b645da3-a6fc-4f1b-8494-5f7ead33ded4 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:79645786-a3fa-48cc-8712-211e323910f9 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:00fa82d4-f0c8-49f3-8ead-c023a0f7a20c phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:da48f1a1-bad6-4c27-9325-18b940ccaad9 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9bd9d7c1-a899-460c-8860-e60b4a0c97db phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1d714d54-84d1-484c-b3ca-316f6fc97599 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2dabe517-62f1-4172-b146-75c18525c491 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7125fcaa-a878-4d02-a7d0-12e9461a9494 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e446ba80-7e3f-41c0-abe6-e139e359d720 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:68bc8e85-ebff-4cd5-bad0-06d4867f0cd4 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:8df55616-8c24-431b-bee6-64b91b005b00 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:937386e9-0fe9-48f3-b1ca-eece179abd31 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:198ede6d-655a-4caf-8d44-51a68149fdbb phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:37b8a50c-7238-4bda-8ee6-a7cd45e204eb phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:228dd3b3-42ae-4802-84e3-ff3310f9e8f5 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:747f56a1-50dc-4127-9289-2f7a59f186f1 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d21bab8a-320b-42c4-8a66-9ce20ba2e751 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:646ca633-4511-4193-9b9f-c2bbd9a3d020 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:85b4eff7-a15a-4465-9e81-214bb18ab519 phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:9149fea1-e38f-4cce-b812-73dbb77aa28a phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:e73871f6-5f91-4e9d-a0be-25674d72638d phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0031631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:32083401 uuid:3c52dd23-d2ab-45c4-a8a2-3bc278705fcb phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0033328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:32083401 uuid:5f9021c6-a700-4f66-9a30-da9d3e7893c0 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:e3751068-2739-403c-a644-0773c4bf1407 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:e8fd7830-5528-4044-83d6-2307fcf94d54 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:1b2a3331-44f5-4d8d-9e04-82ce6f80e40d phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:d497b4fb-8c86-4b22-beaa-ddacedf0fc58 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:1150e892-9495-4b64-be32-322459065b79 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:a0404ee2-2797-406c-9b17-f8494eb0b524 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:c7f1fe3a-ae18-4731-8dd6-aa03b6309221 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:cf6e9402-d602-43f4-915d-414c90f0ca81 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:06e0a91a-b6a9-4384-a1a8-5141ab557a1c phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:a768a7b0-22cc-477a-9508-023779395e2f phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:0f441258-2730-4004-9dd3-61169d24a27b phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:3f05b85c-bd90-40af-aa61-107a78c13ef7 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:05e0eb74-08a2-48f8-9170-d99d559bedba phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:b14c89ee-4788-427d-9148-aff917f602b4 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:9eb87d34-3d66-447e-a737-0453116bf8e7 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:cac61295-0702-4e7e-8844-77552c194aa5 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:394c826a-3a24-4426-a923-294b75c70a3b phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:9ba4321f-ca52-4b63-b238-a0bc1487fdf8 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:ef936e61-bd96-48a1-a742-8eeb3fdd0d66 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:3a238d20-a2df-47b2-aa7f-9624db683b1a phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:5c50e433-8a2d-48df-abe2-fd4ffd9a4f30 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:e457f2f8-5f98-4732-9eec-b1cb09bfe0ec phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0011381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:7f050535-d8a1-4427-99b8-692282b21819 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0100272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:63240a19-d902-4fe9-9639-909c976cf0d7 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:aa86fd4d-2dd1-45d6-8c8e-942294a7c10e phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:2a7b2786-5a8b-4edd-b0a0-b2d5d6e479d3 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:c4a926a8-030f-4eec-a3c8-1867f42cf784 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:9cb34512-ee02-45aa-ba10-8027e74669bd phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:143372c8-0a6d-4f4e-98d4-5cf48deea2ba phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:a1001d03-2cda-4d7e-8970-ea4cc15348b2 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:23b8af8f-1bb6-4608-be24-0dc6e239f729 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:c5c36d2c-689f-453d-bdca-c418688c1e86 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:c325f85a-8063-4b87-ae21-76db26da59b2 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:31579b45-a82d-44c9-9f32-1a66240ed6d8 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:0daf9f8d-3e79-4bcc-ae04-ef4b1d909bba phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:346d1dae-2a50-43cc-9353-0743208e6556 phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:908607f2-91de-420c-b000-7159ce82c61b phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:99ad0a97-1c6c-4033-81db-fbfb7a2cc477 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e4f9b403-add9-4bf6-ae8c-299479eedc60 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:108cb577-d46b-482b-a295-551bb4b14856 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:4258ff3e-62d4-46f7-bf55-362b6e58905b phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:4f7be13c-c743-46a2-82da-da36868c09ee phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:0ecac92a-988d-4f84-8ea2-ceb569d0b76a phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:37739b79-9d20-42ee-bdd8-f72a6a743dae phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:b3722c40-33b6-4474-8625-2883f332df5b phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:0e0a4958-ebe2-4558-8ca9-585f364c86ca phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:2876ce65-dab0-4387-b166-877f11663a72 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:801cc0d1-a576-48f0-9370-4623c0b81423 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:3a0c8467-648f-492a-9892-d858dd9e3421 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:49e8cd24-41d7-46e2-9526-bce5ea5f3b8c phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a595a07f-3fc2-4bb7-bf91-0645d2bf729f phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1037cd3d-365b-4210-8446-37184ee76152 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:c89eeb1b-84ae-41db-b2e9-ec0c5613bf51 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:eee0d4a2-5d57-49dd-97a0-8cdb134730e4 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8bab57f9-d058-439c-9f0e-9ab5fecf70ae phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:91611134-f905-4e55-89fc-5393b8fcdac2 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:c00fa630-6837-4fa6-8fae-ecd8740cd526 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:c756e125-6aba-4195-9033-a71091940ce0 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e34d835c-3a0b-43bd-9232-7fea1473536e phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9b42ac2a-2afe-41d4-b82c-b5f5d8b5c145 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8ce2e1eb-be22-412d-a09d-421a3f101dc3 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9c0f122a-5b7a-4861-9b57-79ee657dfc73 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:135e1169-7f4c-4b3a-b6ba-ddd3e87bfc85 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:63c9698f-d0eb-4467-997e-95b18b7ec1ee phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:fbf04f91-720f-4e6e-98fa-fa8937f39469 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1eb65314-1086-4238-b44b-7f3914b81fd4 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:866dea61-dedf-4488-b8e5-12bd25768b17 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:25218687-0e41-4bd6-a8e9-b2f8ad51fbbf phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:0c62ad4b-4b1a-4ae4-924f-737d5307047c phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:09b0753d-0ce8-4ea9-8f5f-834d4033a421 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:126bbf2d-58c5-4452-b3f6-bb77a31e05dc phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4c9b8b21-e8ae-47ab-bf62-65cabc8e4e93 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:198ea2cc-53c1-474b-b3e6-a38c32aca106 phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:19f37fa4-6a58-4c8e-983e-12be80084f03 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:795ed1a2-6ee5-4e8b-929e-ed2c1a44337a phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:f188ed9b-d046-409d-9ea3-93894c3b9dad phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:7b14acbc-2146-4e77-b15d-65f8a0ec3369 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:a8275a94-de87-48c0-8c92-5a9f951320a6 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:a231b2cc-9275-41e4-b7b6-ebe5472073c2 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:ea87a680-c92a-44e5-b485-9a93edf83ef5 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:aa6e7a8f-48e2-4532-b4f2-9171554d06fd phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:58ef1fab-9180-4eab-8d58-f79416aa7a50 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:4af5d9bc-e852-43fe-a5ff-f123bb929255 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:a534f88e-2e22-429b-abca-0d85fdbe5583 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:cff033b7-73d5-41b8-94cb-e68b0be6de0d phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:d41fab43-b8d5-4e61-8625-233084882508 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0011381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32083401 uuid:7a0313f8-ec72-4433-9e31-c1191ecc4c68 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:00a2c9ae-2f9d-4ee5-a973-37999e3fb3d8 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:94775d80-fe4e-4e58-a22a-ccb7467c3967 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:3f665425-0c14-4dc6-83ad-620827b5af1c phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:ca41235b-4305-4608-a7df-38bdf45ea844 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:67fdceaa-1be5-4d90-bcf5-ddb1a5c1b8d3 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:6c22fcfa-6fbe-4bd9-b84f-8c4fbd3e3a17 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:cb13ac05-574f-4a98-8e56-18b2e1dddceb phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:5f13d5f7-257f-4ec5-90a0-c8628734850e phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_phenotype HP:0100272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32083401 uuid:a97e6f10-b7be-4dcb-9505-d1bdbbd0f019 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:2887109e-b99f-4211-bc76-5b20be9ffca2 phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32083401 uuid:a2166041-201f-4ae9-9008-571c0348925e phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3d4c6956-e210-42aa-a6ff-eb134db12693 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0cb11feb-b032-41d4-bdf6-5e0572d8789c phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3f723e72-9990-49d8-a521-f8042ee2662a phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b12e752b-4281-44cb-a871-16ee52bacc87 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:19025495-5992-44b1-8d2a-4806c2610a4e phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:a8826e7c-fb77-4260-805f-e2a2468f2e71 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:6f6dfcfc-48e6-4fae-9c5d-4dabb37106a2 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:73f8b479-8641-4cdf-aea0-32efbd4d6bec phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:90c7245a-7bb0-4918-afe2-1fc166687812 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:a559cb07-ad39-4662-a140-53b511712f49 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:a28318fd-b71c-41c8-bc0d-1b480f7c315b phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0deb3fe4-84ec-4709-8ea7-7fd011819099 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:884fc0b1-920f-4583-b57e-456398d81b1e phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b1a538f4-ac66-4fcd-979b-ef225ee4be99 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:84617e3b-6560-4eca-b348-173d284746d8 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:442600f0-c9be-479a-869a-8487e5dc74ae phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:3f482aa1-5ee4-4fba-9c4f-87476371c550 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d2df370b-5467-46f7-997c-5be4e380effe phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:abd5fd34-8c15-4671-a3c3-54ef1f62ac17 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fd2f002b-c74c-49c7-9728-029b0a5fa94e phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e0070187-56f6-4c1a-9999-1ad6878caed9 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e5fc787c-7600-41c6-a566-5eb0b83ee14f phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c7920b70-703c-4b17-82b0-33a3a909f20b phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b3990146-03dd-40a1-90fb-900e57d9162c phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:75e7a415-15e2-4bbe-8c08-7e0ebbfe8b93 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:32c15ecc-7f3d-4938-a5ea-1a3d1b0757fb phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d72ed17f-02c7-403a-8d96-69d06d13c2b7 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:5c160bc4-b151-48b6-afdb-19ab3cf70aff phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:33b28511-e03c-428e-860a-a54cc4c99e4d phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:e257f152-0006-471d-bed1-727954f7f199 phenopacket.store:KMT2D.PMID_25142838_P4 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:8027747a-f1c7-45ec-9e80-1eadff622c7b phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:5e9b8fae-c257-4370-a3a2-d906fe19cc0b phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:c133858a-c9cb-417d-83ed-2bf0db04c89b phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:dd432989-b3d4-4dd7-9646-6c787866b809 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6d0058e4-87c9-4194-b996-af8c11464453 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6323db82-09f6-4629-ba4a-0f56154d8c56 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:18a485f6-4e6b-4d77-b2d1-1855541f22c8 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:cf978a39-abcb-485a-888f-5c177ca700fe phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:5a199780-bff7-4e91-9852-486f46af7f03 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ee113054-c774-4d07-bc54-476a942f696a phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d9fd64d2-696a-44f4-a5d7-a30bbca4f815 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ca05cf1a-a406-4de2-be04-63c231fc89d2 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:42d02359-d639-46ee-9f2e-5768bc6eea69 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ec4f7efb-4d9d-41cc-8320-407df0aac55f phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:0f2d69a8-a6cd-4c68-ae21-a7d245a7a18f phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a861401e-3a0d-4032-93d2-3824ef4e348d phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f8529421-1eb3-4d4a-af71-dd547541ac5e phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d15b2aa5-9e31-4c8c-9920-439d04874cef phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:1d9c8f7e-c40b-49ee-bea9-9f9a6393ba01 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:576589f1-cc82-41a1-914a-5691de3425cc phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:6f45846c-8761-45fe-8ea5-3a93e4f6411b phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d5ba2c4c-baa1-4aaf-a947-54b15098ea72 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:128d828e-aa86-4d2e-bbe8-e9c0860d6347 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:c3b3fc66-2a5e-4a60-ba5f-1b4d56763942 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:5e8642a6-138e-48b2-b894-8e849438341a phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a9b926c8-9c75-413b-a7b2-46b2cec7fa14 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:3798688f-bec5-4eba-88c1-6586bfd27ac4 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e7df379c-7a42-4db2-967a-6c1852f2d868 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:109863d4-6bf9-4197-8f98-8c405d9224f9 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a90b562d-1b41-41b0-a1f3-77d808cab8bd phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e4370fc6-4995-4bd9-b047-7d13faaca2c2 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:2648e696-deeb-4a4f-a58e-023404e97871 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:6b0ec6ab-9e84-4c37-9b40-15d953003572 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:29d9d937-658d-42b8-8cd0-b2b1e9b3c773 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:b9c29895-9897-4dea-8398-cb942c0b8036 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:bd40fa71-f9eb-4deb-a821-3db0460436c1 phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:0822765d-439d-4e92-8b7d-d62cb6f1bc85 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:27573763 uuid:662dfa51-662f-4403-a253-4bf7cd843c11 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:27573763 uuid:f23779b6-331a-4e94-a297-bcdc06bc00d4 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:1667afff-092d-4cb8-bd42-89e5f3eb8dae phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:8dd16308-9bd5-4ce7-98fa-6c78a6f7aaf1 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:2257c3ff-786a-4847-a1d8-8061d1a91004 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:5df110d9-1325-4790-b582-21500389a92a phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:31428fbc-f706-41fb-a765-e516f0c44087 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:e47be5cd-a2fa-4976-99b3-ea33a7d53994 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:bdd3b06e-60ac-43e2-b411-a679e7bc2716 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27573763 uuid:5b240d0d-1932-4cff-af4b-b532339a622c phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:b78c9f08-4571-4625-a1d1-a334c4b9c297 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:e22ec285-cefd-4b95-803d-b73a7cddedb0 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:2010d806-e6d2-4cd4-b4fe-cd2b891e3e08 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:320808f3-9722-4577-b6f8-f55854afb8be phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:88d12365-4622-40be-8d83-692345eef1a7 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:d7ba0c93-3028-4a0d-be74-f8665e27463a phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:e2a759c4-eb20-482a-915d-419212ee60b9 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:1d7a7bcf-87e4-4884-9494-09d8a4877aff phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:6d3a85af-c2bf-4f09-8381-b2364535df9b phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:3b12e82d-80f7-487b-b54a-69e18f10f9a3 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:0f9b7d73-c7c3-493a-9f66-d98e928fcc4d phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:1645dc5a-7fd1-46d5-927e-0f1cff6d255f phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:b339cbc7-3563-4688-a4c9-4e800100fa30 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:c7571e94-8558-497b-ba37-c892547811f7 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:f70dd8f9-aaaa-4e17-9df0-4ec9a421ea59 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:3043f9ff-18b7-400a-961f-6636eb2963e8 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:55e985b0-526c-402a-879c-3205ad9bc0d6 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_phenotype HP:0001750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27573763 uuid:bcd90c4e-e7e0-4256-8c8e-6fd0d1acadd4 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27573763 uuid:6c0756f8-4230-40b3-a04f-931d316a6fd5 phenopacket.store:KMT2D.PMID_27573763_patient biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27573763 uuid:34274cc3-5fab-4de0-8b97-bb20995c75ae phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24019847 uuid:7e7d4125-ab4a-4e0a-9b6f-09b2a9a182a3 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:0f3a5ed0-5590-4087-8859-7bdf8a63f596 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:d3211dcb-7718-4ff7-959d-9086fc375483 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:c3615b11-5c44-450a-8c47-9064ab11360d phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:ac5c7de9-745f-45e4-aca3-b4079857fab7 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:e8fad62b-1d39-4227-98c7-75fede83245a phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:b1271ff5-8fd2-4a51-a808-4fa02a6ef330 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:7baa3ed5-a2ed-4804-8f9a-e2748b86d2bd phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:24019847 uuid:5576e485-0af6-4fd1-9a52-6544e99f95b5 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24019847 uuid:69c1811b-7b4c-4f06-9407-27729b0c5279 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24019847 uuid:d2271410-61e8-4125-a3c1-d53e8d5c02bc phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24019847 uuid:e1ea80cf-2654-48ca-b1a3-46845c7b7fed phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24019847 uuid:04b207f1-0416-4c86-bf53-e976af257610 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24019847 uuid:be3b1af6-bac1-4db9-8021-2226a8b2561d phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:454f60b7-7383-41be-a3f8-788ff2d23ca3 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:4b584dba-b711-4a58-95b6-f46a1a7c9d66 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:3134a2db-78db-4110-8836-ecb943aae8ca phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:c6a7ff7e-eee5-4cb3-8d5b-e44e5c1c899b phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:91e38d3c-d115-4b6d-8eae-4598fcd6b1b4 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:2d388235-ab97-45ea-bc5e-1b5440c4b3ac phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:8cf1cee7-4ca1-447b-aa7b-a4a397dc7c41 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:c99047fd-70c0-4182-93b6-a8c700a72d01 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:78e0f2ba-ced0-400c-9ed3-63fa3ea0c3ff phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:228bc890-1895-49b7-925e-245089e2d88a phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:6cfd7fb5-768a-489c-b1d1-51fd63d457c8 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:9fccf244-2687-4ea0-8983-8a71367a66f7 phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24019847 uuid:3f1689a4-cec4-4c99-a96a-15dd4c564e4f phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24019847 uuid:140d8a9b-4e00-49b4-a514-7fb1daf16c7c phenopacket.store:KMT2D.PMID_24019847_patient biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24019847 uuid:79255102-9436-4fd2-a9b0-b28079c5a940 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:43f5ff5a-1fbb-495b-a8ae-ed588196b2f8 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:012305a5-e4a7-442f-8335-8e00cb258f58 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:a56c44d5-022d-4cf6-81d7-b9166099c7b2 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:de0c6f45-ef16-41a7-8668-90d37bd26d2d phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:f159fb08-c8ee-41c8-9ae3-12866a4b70ab phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:5630884c-3d25-434c-a97f-f166654337cf phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:46a9c7aa-ed98-4ce8-85e0-291e9281f061 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:1c884e0e-8dde-4322-a272-231be16304e4 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:827bedd0-9208-479a-a03d-122f3106464e phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:7cc3f920-835a-4a9d-a820-fe8804bcb116 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:0d8e369a-6bff-45ab-abaf-4287b00c8f32 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:7f42a467-bdca-4505-ad09-ada0ec6de7ec phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:47b6bc19-0a37-4794-85c7-31ddb1d8a70e phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:29e2bdd4-9958-4267-8cca-36580981de24 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:63cdfdd5-1366-4f4f-98fd-81c66829c123 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:cb6d0266-1b9c-4086-a255-a6ef6a58d007 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:badc203d-bb7b-4ce6-9de2-7957f78aea83 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:f268c31d-c29d-4451-b9c9-2ff621257e4b phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:9bff5609-9861-4388-b0b4-3fc135ae78c3 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:e3ab16bb-b17b-4534-944e-63799b96bf07 phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P4Y1M infores:phenopacket-store PMID:25896430 uuid:9317ed55-4ff7-44e8-a098-5a84f117d4fc phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:9b65da09-3a6a-43ea-9e16-83d31ec84c49 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:484ab594-7653-44c2-919f-c9c56bb63af8 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:dc4247e9-6ae8-4f1f-a4e1-044c4c7e0018 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:b8b026ea-f907-41b3-83c0-43e7c87a1c6c phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:f4952b59-a4a3-4113-8222-a1a41addf589 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:223b27e7-8bb9-4603-aae2-2dc42e0a4629 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:97148fb2-2725-4b21-be35-1fc5932a9b6e phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:15df84f7-a930-4841-a1a1-37ec3df8c775 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:1022a65a-38a2-4e8f-99b1-7e4e12d55d80 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:56d7a99d-85d5-476e-b8bb-9bb0a682fced phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:2e2904ba-dd19-46d0-9e2e-636e17870747 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:fd3fd8f9-242d-4a35-94e1-669ed37b4965 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:b0449399-87db-478b-942a-2e914d385823 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:d324408b-b9fe-4523-bf2c-8d7cb200e802 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:e1f20037-fecd-4928-b029-fff5fde64c66 phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:259e691c-b45e-4086-aca2-4ab7a7ac3fe6 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b43bdc60-f044-4a36-8658-839bd3477ba0 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:75bd269a-35ea-45f5-a62c-431a26802dc0 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:2c37097a-ae5b-4c73-9d75-39a95b530d1f phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e2e60311-b8ce-4bd8-a82f-ce089c602f0d phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:19d6d422-99d4-4830-b9b7-8fd3a40e9cc2 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:67f227c9-64cf-47be-be74-0be9d0587ee6 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3ab1a680-0640-4531-90c4-035d6c6c2046 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:52a15763-1c23-44f5-86c5-c28753293ba0 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:d56a2303-1dfe-4c0b-a3a8-34bd220125e9 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:aa92446a-7fab-4dfb-832b-634327f8be24 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:781a6826-5e58-45eb-8c70-4118a4ec3d96 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:0b2e6a63-3ddb-40c4-900f-5c1497e245a6 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:920c4e92-47a1-49c2-aa5d-20507f869d89 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f57391d8-4332-4084-b81c-9ba91be6da30 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f90ab894-967d-4e4f-a3ad-df0109796b4b phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b0c7fa56-11a6-4c5f-8056-b3ea9738ae3a phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:02947df3-3c25-4e95-9d2b-8432b5e8bbd7 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:89d23036-a260-4ebf-b571-172bdf82d6e0 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d5585fb7-df0a-44f7-9528-e721cbc72b26 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b10b80ba-1100-4c47-a598-edc991b08360 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d4a29de5-5827-4450-93a9-1237cc9fc9fc phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c825bae0-6d95-4af4-9f36-e72add7e9b9d phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:33020b41-5970-4af2-926f-05341498b03c phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:0925a598-c70a-4492-b7f9-7436d3075559 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:ebcac083-5d88-4e10-926c-2730209628fd phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e8c6579c-b0f8-4da6-a128-8d65360ef425 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:eb1473d2-975a-4242-a441-32d215f0ae8c phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b1ba1ea4-f4d9-45bf-b367-35e96661fb28 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d0baaafb-dff1-4f51-95c3-4187b216bee9 phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d7499888-a85d-4164-8190-849f7647895a phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:eda78330-a6f2-49e7-adc6-b1e6c4482ddc phenopacket.store:KMT2D.PMID_25142838_P6 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:938a57ba-6674-45e3-af85-dac67b2591f6 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:400040e4-e454-4667-bfcf-9702c4f3a067 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:bca71a0f-77e5-4880-8881-93ae35260928 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:361b9dd6-c389-4710-93b5-05d93e38afdf phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:57e9e680-44af-4329-9f49-1ffb066a7491 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:894ea996-d320-4923-9664-6fedc252a5a1 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:23524d58-0e64-4d05-8e16-7369607f77bf phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e9a42579-2bef-4f3c-bba4-14af702a2da7 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:c9907b3f-f930-4cf4-879f-c395c01b87e5 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:30218d4c-a374-4ccf-a69a-7fdf5c5de327 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e731f29f-e889-4994-bc8f-49da11efcecb phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:18c59856-191b-4368-b406-8dd027cf3c7e phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:f98752e0-79d0-4447-a8c7-b844758d088b phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:876bb04c-89e4-448d-a680-2802baf2dfad phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:3fcac11a-c2ab-450f-bba9-3043c7c5f15a phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d2c342f5-6756-474a-a2b6-a3857dbb1a16 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:eace108d-18a9-4465-91b8-6e04918cdb65 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:f0eace75-8e47-423a-82eb-7f707fea30b3 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a2836ae9-1fe2-4613-98e1-655b0e633715 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:ae0f7722-1171-45b1-bb80-f01b1f82334c phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:94faef15-2298-4083-a5e1-5eb380501d92 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8537d3bc-bdff-4db0-8bc0-74eaab66c332 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:3f0bfe94-56e8-4569-95a7-30b35876e7da phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a029d767-fff9-4d8e-97e6-a88f27ee5e53 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:96d66245-c993-49c8-9929-af8f6d8b3611 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e8a65efd-c5f9-4d27-95b6-4ce88531580c phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:2105a779-a118-465d-a6d5-1382fc9f52d8 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:a46a20b7-cc8b-413a-8bbb-8b44d2006a49 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:b3b9d2ee-49c9-4d98-80c3-b53399e5048e phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:72e66d46-9932-436d-ae75-03409b7fbf1c phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:cebbc180-1a7e-4b65-a058-1b0c6b97d1dc phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1d44d53e-62d3-4e65-b9b1-540f23546613 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:6050fd15-ad53-43b0-ba74-b6be4b0bd66e phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1b40db65-8212-4200-8cab-01ed52b8ac31 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:37645163-8306-4ea2-9961-28a243889e80 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:55f14ad9-2a47-4fe4-9c49-0c3e23f43ee2 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:0162ac19-8027-448e-b9eb-288887fe58f3 phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:24a702e2-b5d7-4645-a895-fe4a1b36f245 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:3eb161cb-10d2-4499-82ab-2df2dcd0e514 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d3979aaa-8b75-4540-a2bd-7b1c2a1d147e phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:4999a241-629a-4ce2-9836-9ffcc9b45ad4 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:30fcf050-8334-492e-b966-8601ab81f85c phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:9a3a72d9-b243-4d24-8078-9cb3fe9f84f3 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:020cc7ee-3268-4cad-bfc1-488e899c6582 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:23b602ed-aaa8-4d97-81d1-5d98906c5403 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:71517364-7e43-4cf1-a535-bcc2fda33542 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:1ad08178-fa13-4499-8beb-23357f1d3549 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:00f6abcd-fae9-4168-8dc4-b37f29054e91 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:9d3b3e3a-13a2-4c96-be97-04d7c67b5dd7 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:eeaddc89-18ae-4e88-8398-b765c9aeddac phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:062da2b5-d9e1-4d90-aad0-9994a7ae9a92 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:60f43f66-a5f6-432f-b4d1-2692193e29fe phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:fe3c8c3e-3549-4cdf-a47d-7fd554b33d9f phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7ccbe569-777e-486f-b668-9b9b41fcf691 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:c4ef518b-a96e-4e05-8da2-58ab17814b98 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:d3282313-ebf8-4b97-ae6a-f62431996075 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:45e9c1cc-64fe-4c3c-8f8e-6cbdce6cd2d9 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:cdd4b9e2-8ecd-4d2e-a360-8fe26658b046 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e9b8d17f-1e4b-4881-9e16-e8fe703cbcdd phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:3e52de44-e797-4086-be0e-f7cbfd5f6556 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:71309438-c5eb-488f-bfc1-70eb3e632766 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:55cdcab7-4457-4a18-b79f-7f4616a2b987 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8081bd05-d4a9-4ef3-9504-f42a890f8496 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7f39c202-c1f8-4fe4-9e77-fbc823369005 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:c013cea2-31db-47b5-9bb7-4ede1f31468b phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e789a101-9224-46f0-a7c2-d78bb7e59996 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:ae6d036c-da41-4861-bc2f-217de92048bb phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:4ee4bdf1-79be-4155-8f86-391762665d28 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:dfeaddb4-0b98-4582-bcfe-e960a2921d51 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7442b762-dd5f-4adc-ac7c-ccbeb8eeba94 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8a5e746f-f6d8-47e9-a926-fd115fc41a35 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:23450053-b89c-49de-917f-d49bd57115c8 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:92356bf3-290e-4c42-99f1-da543e280021 phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:d611f6db-1c12-496f-82c3-06fd50401c08 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:5a4b5439-7c7f-4c30-ae2f-65fdfadfce5f phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:e11cd7aa-996d-4282-871c-8c657f1adb82 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:626b14da-5722-4b09-97ed-687f485caf27 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:67173255-f22a-4d5f-8f9f-179059a5cfc8 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:778b82a5-a206-4f4b-9232-d3265f90cf25 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:96181052-039b-4d10-a603-4bcd4a731fa9 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:a4b9e2f5-9e33-4f03-8b71-a62181a46f85 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:89b5e42a-0eee-485b-9557-7339ebafc59c phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:3126e8ec-27bd-4498-ab54-2eae74f46b25 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:8c361f41-2330-4d31-bc6b-bd0706ee5961 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:37837fd0-7bde-456b-9dd5-678fe93ac80a phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:9dea465a-651c-46a1-95c4-c193e73a39b1 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:26745f99-ae57-4ea2-99e8-1286b24bbc4b phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:ce9a19b1-23a1-464e-a0f3-2ad284a039c0 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:3925327f-0b36-49e6-bbad-7459d9b74c15 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:2d092785-ad65-4a9b-b7ba-2fccecff3c65 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:54b1377c-3ecf-4ddd-a9dc-27c6829ffdf7 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:2badb5a0-75b6-4880-9ae9-0f7774ec0154 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:25896430 uuid:0d731fee-f97e-4876-9861-876571697781 phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:d5fb4c70-b451-4600-aef5-373bafcb3738 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:24fae670-7404-4a29-8286-1c01a3bda736 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:50529a91-c50c-4434-a132-b18d4133b779 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:1d9bf287-7089-427d-8879-74bc05185886 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:4e932d72-cbb7-4fe9-847c-8a4851abafb7 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:2c476c18-1e8f-4af1-b5b9-defa95019c83 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:8b6e7757-be5a-424b-b84a-29edc5689d08 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:d998fbb6-cb69-4a4f-a5a5-0e6ad99a1178 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:f081eb7c-69d4-4e8f-8397-3147971e33fa phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:850b3a2a-b58a-477a-99cb-cc4cae417ae5 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:046df9ba-1ca6-46da-8fb6-b941752310a2 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:50903bd4-6729-49bc-8a96-23c3b2b6a4ae phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25896430 uuid:6abee8af-878e-45eb-a2eb-5b89a0c85a26 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:ae7e8cef-3113-4005-8dd5-3fdaabb43581 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:2ad405da-627d-4cff-b1ca-0b2befc1873b phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:e363ca8a-3586-4d2f-a3d4-ba476b67ec73 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:0e4124dd-752b-4c3f-a11c-74889acb64bf phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:d1a8628a-8013-4ec3-bc34-7b664ed686ff phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:7bed7cf9-b2fd-4516-a0e7-b95903cffa10 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:b06e01a8-8d3f-4b25-a49f-192e41b80a36 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25896430 uuid:8e993503-dbc8-40e9-b7ef-908e80908249 phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:25896430 uuid:e276c7fd-d0e7-4f1f-be79-1153e8c186dd phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25896430 uuid:30c85e59-3210-496d-89c1-d99eaece5fb1 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:1df69016-8e9b-466e-a89c-d241041579f2 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:304e1812-5808-44c9-a0a8-93564b7364b0 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:fa604b94-7155-4d06-9ca6-ddbf91de0070 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:85802641-9c9e-44bd-9eda-3a48c4d3e896 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:f4b685db-3f9b-48c3-ad81-1aa1306fe4ce phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:64aee232-00a8-4fed-8482-35807ee1269e phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:662f1cd1-5515-4748-9eb9-05d4eb8e91d6 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:15de9b5f-dc8b-45b6-8ed4-a61ea88986c3 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:8bc501fa-8396-4c78-83b0-eb1de4702a8c phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:fef4e90a-9369-44af-87ca-5ea99918653c phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:750da883-eecf-4fd7-943b-c7af8afbf509 phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:936b3421-483c-4db2-87ca-6958653f2bf6 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:e37f847f-2bfe-46d7-af0a-0fd9a0281272 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:1d880c09-707e-4995-b515-a9bf183e7abf phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31949313 uuid:35f99f79-6f9c-42c2-82d0-10dbd4c6d699 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:d14ee4a4-4999-425b-83de-62b1e9d9243d phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:4d4e2689-fa09-4d00-b089-ce42c5fdc5ee phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:9e6ff0fd-30f5-495f-9f81-67269ce84d74 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:d54108d5-2bdf-48a2-8bec-f4c9edf8f755 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:45017c3e-9c70-4ae1-a0c3-356445190c77 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:76f21e50-1fe7-4226-bc51-117289d62ee5 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:b160099b-5322-41a2-bb8a-1d9df64d4c06 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:be494014-70e1-4fd5-b147-fcb3b95514f5 phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:80803b47-7b07-42a2-9781-57d0b3e9e5be phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:96842039-41bd-47ee-989d-4636a0d01ada phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:33600325-6b1a-4971-9ee5-5a8fa4390e7c phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:a4358f31-ff29-46d5-883e-b78f77aed616 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e71f4e15-61e2-41b8-bfb4-c6b104b0f1c5 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3f6c2b41-52b3-427f-bc06-7df6fbbb1a47 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:12e16f2e-62e7-425e-bd57-7fb9edf28046 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f4122f45-9022-4357-a1df-3e324e162c0b phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b12a9743-ba35-4d41-a40b-1cddd7642dfb phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:06672ca4-6602-4ee5-b926-c4f84c8cc1d9 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b0bbee46-88e7-44ee-bdb1-f58edbadf735 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ec3b856a-5582-4f1f-8daa-4c137a0a5a61 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f579b6a7-85ab-49ee-ac1e-e35dadc09ede phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:5330c1fb-37c5-4c01-8886-8b5b15df3e58 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:28c36d0b-9af7-4b2f-995b-4913cabc76fb phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9f0cd713-5871-4a64-a33b-93e10f480631 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:71f97748-3666-4b7c-88f1-af651b7b54c1 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:f7e2f1bf-be2e-42f5-851d-febda4c1e041 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:1a746bb4-a432-40d7-a3be-feaeec286448 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:57df83ab-7aca-429e-98e8-761cf53a1b76 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7094d19b-a5eb-4680-a8e4-4c86f46fbdc3 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:6b7b5d2b-a8ba-494d-a435-7ca47c9349cc phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9aa22659-66f1-4a28-a75c-6d0f822e8d26 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c26fb9f5-fd4f-46c0-bb5d-92e90f2010f2 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9c1acedc-f01e-428a-b86e-3725b73e9a54 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:47121144-85af-480c-a9e1-4183d72152e4 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:37a3431d-3208-4237-b48d-e0928a5e9c17 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9f291ff5-f864-44ba-b230-0bf2639931dc phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:3687a4e5-0c54-429f-831b-caae6d97962f phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2693cdc0-5736-4d10-96e7-e0de7628c7de phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d45e121e-1026-4631-b7d4-df5e11da0a2d phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:a09eb278-c732-4423-a257-832514a77358 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c074edf0-5043-43dd-a90b-4332463dabd8 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:2492bd11-4495-40aa-b92a-8df6a5e4f290 phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:605bc096-7d68-4c59-bd5a-54c3b2d595d9 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:e6496975-7f8c-4138-80f2-00acb3c23af2 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:4d441500-25b3-4998-b956-396246626755 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:23a1b214-2bf6-46bc-a5bf-9ea98d63d6f7 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:910870ce-3c04-4690-a334-026f0a34791d phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ccc17bb0-c414-48cc-8c71-dc705f7ceb5e phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9443fca2-a186-4797-ad77-799c93676dc9 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:eb28acd0-8aeb-4a54-8723-42028d395bb4 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3fefd04a-17d8-47bf-8e68-e1dffac884ea phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:5eeadb93-5f69-484b-a266-0a9840d354e0 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7b310b4d-2481-44fa-a5b4-0427f559dea1 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:bf0684de-5a15-488a-ac18-f51dd31d1fc0 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d5b2fb9e-450c-49d6-ba87-abbf95cfa35b phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fd900114-5dd5-4a24-98e1-feb38ccca403 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:32391f2b-b0fb-4972-ad56-a58d3e787f16 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d8f623be-e395-4f25-85fd-f5fad726385b phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:44a9fd6b-4336-4d04-984a-c210198221fc phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:3eb81c4c-7a15-4d39-a709-40e3a5e14487 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:e1bb4775-ef19-4374-8981-1a5f12111c33 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7dd89e23-5273-432e-bc32-868b579b9441 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:4fbf6e8b-8571-4773-a050-f4cad382a0bf phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:5ed1eced-8e91-4b90-97eb-ae67555653f1 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:43f3112b-60b6-4d74-a89d-4594f2034b7e phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:15a3e3c1-e4f7-4577-94a3-8c3ce644570a phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:18998ae0-19d8-4fea-b135-46bd46d69240 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:735a46fa-e336-4347-99c9-402c6e98aa21 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:a3e817c9-f1e0-4895-9d21-9d96a62841e1 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fbb6f9ee-9e0e-4484-bbe4-37977aa39c66 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:cf2d58e8-fba1-41f1-99eb-2b6016653ce8 phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:c732c571-9529-4d54-bbf4-596d3829f77d phenopacket.store:KMT2D.PMID_25142838_P10 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:f36dc16a-6fa0-4212-9880-8366736ddffa phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:e3f51b1f-a1fb-4a6d-9b0c-60f7c4306d31 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:7bd812ae-1ef4-42b1-8fc0-e0d83bf5761e phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31727177 uuid:76532804-66e2-4c25-bfa5-bf7683d150e7 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:8eeac647-c54d-421f-a0c3-354697b626a7 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:032d1b82-5f99-40e0-be71-c5954fd7ecdb phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:0da38f6c-3ce7-4af4-b121-7897eb0244d1 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:d0d92657-460c-47d3-a0dc-cb47df2f20df phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:b2d1197c-7359-41a9-965c-88df8c20c383 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:c35a0217-ccea-4717-af3e-0211a1931717 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:93541367-754f-49c2-98a7-756dfcfdd350 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:fd371037-def2-4082-afa7-931274cecc3e phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:241373ff-d1b7-40cb-b41e-42cdd130510d phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:a1657316-80a6-49e2-ac2c-2fc377d062c6 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:aad2aeb3-f71b-4897-be7f-1bd00650b283 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:9740389e-a8f5-4d74-88f0-62731c391de9 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:2d526210-c396-423c-9337-c519162f0721 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:864b0a44-5416-4804-ae7d-071ae80fb145 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:b95c9d7e-f1bc-4fe6-b8c4-7edc0f4e4c5a phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:c2bdc7bb-aa7d-49c6-8669-f9e29e4763d9 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:fc79ebf3-4412-4c2b-88e0-984773e24cf6 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:53231577-1b52-49e9-bbcd-d6c41dfcdcfe phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:f802dc4f-4557-479b-a825-057d4facadf3 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:555fe6dc-e0ae-4b9f-a3ca-1ed00f83925b phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e0d7fcb8-846f-4863-9607-288a649bdbca phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:391cd377-80b7-49eb-8238-27bc93d97ba4 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:efc50cfb-3670-49a6-999c-33e6dfc01f69 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:bdfc4bc2-7ae5-47c1-bc44-ea92435f3802 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:38de6813-7aad-4fab-912c-9efeeece07ec phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:68561366-03a3-4704-ae73-5cca330d8727 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:df7aaa95-b1e9-4e0c-a846-35e3c7ecb547 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:b3826ede-2820-4617-9852-8f253ce912d9 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:da54bc45-d1a3-4f8b-81ac-180dab3a82f3 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:327b2893-8902-4bc8-9edd-23ae073171d5 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:a667d503-3547-4fb8-8bbb-7b4a8f91b6b4 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31727177 uuid:e1f9a5fb-33d5-4aaf-8cd9-72ffab67ad70 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation P7D infores:phenopacket-store PMID:31727177 uuid:805e8707-3005-4a52-9412-9f14ac3be009 phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31727177 uuid:92df086f-a856-433d-a1a9-6c959988ad41 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35060672 uuid:a469958f-d42d-43c0-ab9c-31c21c8c1fd3 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35060672 uuid:51f9f31f-499c-4c06-8ec6-a2a8b3ed9bd2 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:35060672 uuid:e1c3a07a-9293-4f26-bc19-8756bf7beea2 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:101b5d53-60ec-434d-bbe6-8b0da0af3da0 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:33fbe9f8-d6b3-4538-add7-a6231665e257 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:fe3c074d-9b47-4bea-b8cb-0a2a802c2461 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:ce22c062-dea1-4859-8b32-de2e494a2081 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:2b34f798-719b-40d2-b59a-d4eaaefb560d phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:d58cefd9-2ac1-4fdf-955e-f51fd4236ace phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:e550d90f-ede1-453a-b051-5ee5f6dc3994 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:89c0d4ac-27be-4d16-ad03-9dfd52ba0730 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:bec1b66b-a946-480a-9cb7-9a0b25742d3f phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35060672 uuid:c746f15a-77ef-443f-a385-ad12df5479eb phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35060672 uuid:4d6e58ad-9bbd-46d5-abc3-88750a773087 phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35060672 uuid:ff8aea08-ea8f-4a12-ad84-5282836c9a3d phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:5882d501-9cd6-4341-a5b4-5c7f39c1c6dc phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3163b616-f070-4cb7-a03a-7dbd1621d38d phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f8b432bd-9de5-4d1e-86b5-fe8a02874580 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:975e2f59-9bd3-4958-b354-b395bc4c0ac5 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:95ebaeb4-d147-4e1f-b578-4407a9193f40 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ef5c57fc-12f8-4f8c-a52d-2b92a0969df7 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:abafbe09-4001-400a-ba01-338bc5250751 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:85fb2593-5156-4383-9e93-864600ba833a phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:24484320-c0e1-4e41-865b-b88fe8d51d7b phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:453faaf4-f019-481c-9a67-9f1f39846b16 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:edebcd7b-77b7-463d-901e-7816619f14d9 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:f38fba12-e220-4916-9e74-f9a3fcbaaff6 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9bb588de-d919-4c12-98ec-c9ea9a94bc7c phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b1d770c9-345c-452b-a38d-c0f251b6b12c phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:96f5d7e3-3de7-46e4-97c3-30e5d2f57ed3 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c3ed5199-53c8-4a03-a94a-298923f6aa69 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:63bf4b5e-29f9-44c5-ab11-41d27097cfb8 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d7db09d9-06eb-49ed-9249-09b62678ddaa phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:08baf8bf-504d-427a-9aaa-3b205f23ec84 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:91f9aa01-c374-4116-8afe-fb32c01d5432 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d04c20b1-7b1f-44b6-87c8-a63f710f5c73 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:52d6bf46-1392-4392-b822-a109cc0b330d phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b4cb1a64-20f6-4d1d-bf96-3ff1cfe54a9f phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:38c95f8b-f34f-4efc-aaff-005d781af40e phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:053c7bfe-ed8a-40c6-9f65-ed2fe3fd2773 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d145b823-e535-4aea-be74-81e9f546a18b phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:842db357-3b3f-403f-94a4-05eb9ed41b8a phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:165f0168-187b-4bd6-ab77-a968cbf86bd5 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:98b5d15e-0e1f-4882-9eb7-f921d80b694b phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:5b186557-cdd5-4f31-8d71-a50aa46df8d3 phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:68bc2246-740f-4a09-be98-d59842a743a4 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:d3001459-eea2-4667-92d0-b77296a6cd6b phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:ca1d530f-3707-491e-8c1d-40a6bdd21b7a phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:61585e37-7825-477e-800f-53f80c142822 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:d8f8c606-19b5-4490-816d-d4fd05390c1e phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:91ac3af4-1fed-4925-8035-c296af4b1b90 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:cbb7497c-8038-4462-910d-bfaed0cb4d79 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:649b3e26-9690-4978-b76e-7af80534a028 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:c1439d1d-507b-474e-9ce0-2d37d33bc06d phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:6cac0d91-77e1-4038-a939-8dec1950f0f5 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:38f966f3-9dfc-4746-9003-59cb70713e8d phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:fd25ff7d-4edf-403f-842d-5ce56bf4ce94 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:8c255b79-233a-4a98-a713-39f23861e550 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:3bc578d5-1f97-462b-912a-7aebc13beb17 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:eddfdf6d-db13-4917-aeb0-5be025dceee3 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:6e2a9886-14ae-4788-aaa5-9eba156afaf4 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:dad862e5-9888-40fa-aebb-552af3e870ed phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2387529f-81f3-4941-8341-6206b22bd722 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:5edbcb2b-1a79-4da4-89bc-e4c49150324b phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:43ae2615-a3d2-4891-a8b7-2b65df2fe360 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d142368b-a5a6-4da9-91be-39dc47197e1f phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:84130454-d613-4dc6-9951-f6019b2f5b05 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:47fe0e98-f150-4874-9851-5f4a90924b34 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:87f0d512-5d46-493c-a9bf-e1381a66777a phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c26a7e8b-75ad-4d26-9b05-7f7bd947f4c6 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b3009a95-3a6f-421a-b782-84d3857dbef7 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2d730ae1-ec12-4fee-a09a-9c7e6031e38e phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:8b8b154a-d9d2-426a-9476-047a64b56b8a phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:b2f4890e-7369-4a8f-8f66-aedec2b69958 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:06a09895-1497-420a-9d41-aa2eeb19d30f phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:b0242773-36b4-4593-af7d-c1436f5c70d3 phenopacket.store:KMT2D.PMID_25142838_P7 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:2fc21903-fedb-4551-a245-11ec5ef764f0 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:52069928-72b6-4c7e-b8f9-9f79fbc3ce12 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:68b45e69-d99b-4f95-a476-8cb92410bf07 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:686bcfab-c86b-4d9d-affc-c770970bf9a7 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:38ed3f42-13f1-4502-9e8d-b882dee5217b phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:dcf1b37e-bfc6-4ffb-bc33-164ed8092389 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:61d78c9f-eec5-489f-a77d-aa71665b25ab phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:65cb0066-2b4c-40db-b04a-73d75cdead93 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:d845888f-cc44-4389-97e2-31b6cab82c9c phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0003510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9ed92f00-031d-4e4a-bffd-faa0e76ea38e phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:9cdd5d67-ab81-4acc-a068-c306798fcaf4 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:b3c67fc4-80de-4360-ab0f-55937b692d09 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0030374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25142838 uuid:d56ad681-d899-4944-89da-5938d2342911 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:dba7c352-fd34-4987-bf48-743bb6dcdad3 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:066fe10d-e6f8-4938-981c-c75cf1c08a9c phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:d3af5150-61a1-4ed1-92a0-c88ecda52992 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:26c461c6-c46f-4ff0-8b28-22ef3c448602 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:3570b0d8-e3af-4a41-986f-e99a7ce2bef9 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:997194d3-d069-41e5-8278-1d5c8c6af50d phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:9ef26042-c3f8-43e1-8a9e-500cbd690af9 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:0a7aa1b5-3e36-4288-a6a9-6ac9cbe138e7 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:2917f800-d9c8-4431-8a9c-3a7d53660000 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:844aa6a5-3be4-461b-809d-7c535ba99b68 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:407c83f5-e927-44dc-b448-56c0af6580e1 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:fe2eb960-8f5a-49f0-baef-21ae12de641e phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:dd5b676e-8448-4991-b244-97d9c25a715f phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:c0c68097-ca8c-45f4-9cdf-918a49a119af phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0008348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:aa045a81-a32f-4d45-a9f0-12ac639c0d51 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:8e0f2a95-ff80-45b5-b9b5-c71c13115b01 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_phenotype HP:0410386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25142838 uuid:7aae7d7b-7a59-4a1f-add2-5e0473c22fee phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:ba45b1cb-d688-4660-98db-32a049426646 phenopacket.store:KMT2D.PMID_25142838_P3 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25142838 uuid:84883332-9e35-4d66-9e00-d61ef1eb177d phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:4b1d1d18-c416-4c2c-8fae-f69f38f45863 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:f4fd890f-177d-4dc6-807e-96ec3560bfa7 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:3234abc9-63c5-4625-8f20-99a9735b9eb2 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:5a688e83-ba67-493d-bfbf-720890379e09 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:08d03abe-0b0f-4d97-82a2-6a96e3d4782c phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:937a58a3-9eba-4eea-9208-29464c22c2fa phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0002557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:2b533323-08a1-42f9-9e39-cff4510afaaa phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0002561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:0a4cd489-9cc2-4e6d-aa18-83add77e983a phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:a779bfaf-7ab6-4c6b-8a47-21d8e9f54c51 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:74943a55-769c-4811-9db9-68a9f02844c8 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:4879b748-d50a-474f-93a8-fb4ed5710130 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:05e93d77-7bb8-4e0b-9df5-042d153bb286 phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:88376aef-1a12-4880-927b-e285ab299082 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:cba05ce2-65f0-4a04-9081-6b9acd7a4fbd phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ce40820c-a634-4fdc-b622-e7bbc8c812e5 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:6e5fb41e-2745-472e-9191-4622fdccfa12 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:300e4afc-0bd5-41b0-8aa1-905655f3e0bd phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:76fd9721-9399-4238-81a5-f31fbd77fbd5 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ac2e6e81-520b-42ee-8f30-b67f54b21ab1 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:8a4c8e70-167e-432b-9713-4b7518016c1d phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:08459527-4198-4e45-9104-093b56c86652 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:301dfb51-42a4-4c62-8aaf-655af7c0ffcc phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:71b4edf4-9daa-4a8a-85a3-d6a5c6b45f4f phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:15433882-4eb8-4e11-b822-d6469640e1de phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:a6ad4b86-28f2-4721-8dec-40101c77396b phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:d135e347-975e-4c12-adda-8db2835e5056 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:e04a2a3f-925e-47d5-98c4-a5f2b321a64e phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:fc76fd8f-0e5f-4814-a2c8-f3b70f30a129 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:050d5fc5-7c1c-477f-9340-60986955189c phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:ec1f157d-a8fe-4883-bf33-997155daaac1 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24739679 uuid:804aa520-471d-4fd8-9e3c-3117f78a0ddb phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:ec2d6e32-9ab4-4825-bc45-51c2b96f625b phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:1ef8fef9-43a1-453a-92d2-9e859b3b1f4d phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:3c5a01e2-e566-40d0-9b20-e50e0a717c9a phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:233e1e1c-b9b3-41ac-9147-eb282c365a82 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:0899284f-4d9f-4135-9774-5d9f55428cc2 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:7119546b-52bb-4601-9109-8ec06f0df962 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:43ab85d3-4f46-4133-b495-75707b2b7f00 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:e7322333-d58e-4c34-b2e3-2a24b836a549 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9bb1fc85-5b1c-46d0-8566-a1ea66b70504 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:25c5ba28-b3ac-40c3-8879-3ea3609d7a66 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:9876393a-bf88-4066-be68-74d2745ce6b8 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:42dfcab4-0b69-4a88-afde-0604d74f2103 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:09702cf1-999e-4357-9d87-4061a58f9b20 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:223dab9b-173c-426b-9002-59011da0dfca phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:8b3025ab-166f-47bc-a467-8adc2e2286f7 phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24739679 uuid:5aeca112-ac9b-4466-8a1c-fba972a5405d phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:9659eb06-a18f-4e51-9d87-94dd646dbf2e phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24739679 uuid:46c48354-48ef-4eb6-a8c9-273fd2d85ebd phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:b0454b1f-0eb4-4a9d-b0a8-fe2c10826bed phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:45646a2f-2838-431e-a0db-55cd0377200c phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:aee32905-bbe1-46a9-a7ff-da383adca805 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:1a0bbbef-0d01-43ad-840e-548c204aa3a3 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:39778525-9ed5-42da-98ce-5c60d9d3c7c8 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:fb15bc4f-9de1-479f-a035-52274e55bd65 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:de63dba4-26f9-410d-a09e-64e8a8d8b1b9 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:d330f4e6-a44f-44da-b79c-a093d572f3f4 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:c2f1cb95-19de-4cdc-8465-41a1f0c1b3ea phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:4c0d8cad-0053-43a8-8a87-f236d22a0717 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:a3cc60a7-7e31-496b-952c-790399e509fb phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:34d2419c-2df9-4baa-87a7-917208fb2872 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27991736 uuid:0a242a09-4298-4b57-b6de-e4d27b23a21c phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:6a8f7b0b-bbc2-42bd-93f9-922b883a6d9f phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:10a1f1aa-7ab1-41c8-87b6-ead0c9126641 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:d6225225-b635-48de-9bbb-1804e2e63a3f phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:766bed5c-76a7-4dae-87fe-509d874197d9 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f0afe0ab-fa97-4b92-b8ee-c9971bbc9abc phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:a7637f63-4943-428f-b949-55fb97615a9c phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:11000e8f-f0fd-4fbc-93f3-6423c1a49e4e phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:07e4300a-e5e6-472d-bffc-3be26f3cc624 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:1da3fa9b-f9c8-41b7-8a76-e7fa19014398 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:0a31b256-a34f-4cd6-9957-e8a9f8bde2f2 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:7f82219c-b3b3-4f05-b1e7-568c801a4c67 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:0a12634e-2407-4a86-83b5-6d4cc5dd3f8b phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:44169aaf-148e-424b-ade9-4607689dd9c8 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:d5bc9d43-e1eb-4b67-8126-4792bc7e1e18 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:ec8463e0-1591-45aa-9983-0fca7392cff5 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:77f7e539-b147-4390-959f-efb7394bccd8 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:b7f7fe3e-08fe-497a-a348-d01d2c1b113d phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:9133a15e-01eb-4bcc-90cc-82cd6c7e904f phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:95f1a383-92b5-40a5-bcd1-6efde06de913 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:d828bc3e-44e8-40f4-a192-a8788a549c72 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:207704d2-34b9-4112-b947-04e5e6991f41 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0011626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:f0946647-79a2-49e4-aa11-6e038fb6ddfb phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:0ef02749-8f92-4b73-9af9-ca1e8e3be87c phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:409ff4f9-d2d6-43b7-b023-9c61d48f03a8 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:72eae92f-f4be-4521-83d4-848638ae0991 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:500806c4-4604-49b3-a9b2-12e47208b753 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:0e1d1d05-0905-42cf-a810-a61ef0b1fbd6 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27991736 uuid:79f01b00-f62f-4ddd-bb13-346471070f5f phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27991736 uuid:77541bd3-0460-4ec9-b870-45524d36a695 phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27991736 uuid:64e3de3e-d3fa-4512-916e-3c5d16c910fe phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:7b526a31-574e-4a45-b333-f4af19792d0c phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:47d066b4-a8de-4bb3-b76a-69f1a4167204 phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:752ed301-d948-4b0c-86a4-0026b514b250 phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:8e5f1764-a090-4c40-97ae-ec1ec3f1808a phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:06c0a68c-984d-4505-880e-759538d139e0 phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31949313 uuid:e4ac3299-4050-4256-adc1-70568a875b6c phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_disease OMIM:147920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:bdfc2b6c-b47a-4644-8aa5-1ca9ef8023d1 phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:has_gene HGNC:7133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31949313 uuid:4f1f79b5-deb1-4050-ab10-dd14bf9ba6b6 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:9ac5fd9d-48af-4a9d-be93-8cc2ecce7b9e phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:d4312b24-ecb3-4165-87fd-3839fcff46ab phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:c8c5d74a-17f8-41ab-ad1c-33746566366a phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:46875f98-463e-48f4-bd75-008464fe8d2f phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:f3b235ef-32d6-4f34-bb8d-1c88bd29769c phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:e90b65ce-3142-4b8d-9515-0106920132aa phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:88f8040c-fca3-4067-bbaf-05609f292824 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:3fe5a4ea-bcc2-47f0-a4e8-91a176842e82 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:6abb0c50-a91d-4cae-8c50-b96c33c34b15 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:1cce6922-a162-48d8-8c1e-b0e18385e60d phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:bbc7caaa-5970-4491-9a5a-db59541664c1 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:d2778439-e2ce-4e29-a81f-3a1b6c1b3457 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:1b48a5cf-611a-44c4-a0a2-bf580311113c phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b9d1fc25-e0c1-4a87-8116-fb7aa7f9953f phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:db7b3ef5-aa00-40f1-8470-1ceb52fa0c8d phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:9c60290f-a9a1-4683-85dd-14ac9df42027 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4e58217a-db2d-4f62-a4f6-5b2148d43c3a phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b8c616f1-f1b9-49c0-9dc8-71e9be3e4b1c phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ada537d5-ffff-4c54-9e1e-a19f3e9747af phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:d26297d2-b47d-4740-a800-c690e2ba3ee6 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a8dcbce1-0113-4567-ac66-d347bf76d994 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:da7850d2-7737-4370-b1a3-47996791ce98 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:71845153-da8a-4e74-8acc-f265da6bec58 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:071d37f5-6c5e-4655-a6cc-0d5536c8114b phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:f3cc4f9d-8c77-4425-9f99-6e8015f9fd7f phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:8e256dca-8748-4a15-be1c-2c072d3278b1 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:17ac17ad-7078-41d9-9cc2-b4789f13ad07 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b7e1e3bf-3cb4-452d-8fdc-6ba26e02b3fb phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0e48cfc5-9b5d-48e2-9bc3-d3c20d3b7bb6 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a270d965-dd62-4a4f-813a-c43631b1f927 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:58093a64-fd06-4bff-ac35-abb20cccd173 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:07f7b9eb-8e6b-4e31-bcf0-061e766618bb phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:8a3448df-1a8f-4ffb-8035-a1cfab77bc5f phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:837efaf4-0c34-47cf-8e00-2a7e53d2d76d phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:da963b06-2bc3-47ea-825c-1093aa0e1b41 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b811e13a-ddea-447b-816e-5abed10a38b5 phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:0cf3917d-185e-4789-9337-cf81056c94ed phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:4974a4a2-761a-4455-a5a9-b9c26ed21ca5 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:6d896d5e-d5f3-4049-8f1e-e07952470da6 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:67e51e04-78b5-44fb-8f98-12d7e83dc5a9 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:f87ca326-530e-4f2a-835d-a0e5bc29f4d6 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:43563ab2-bde7-4b5d-9847-de55514e39c0 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:15a27b83-92f4-4a7a-a671-44e8a0fdebd0 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:2ca9eb56-d510-4c6b-b945-e8e7c1ca6fa3 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:8a4eaf20-462c-4ebc-8163-471632e2de7b phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:bd6e7e7d-4eb8-4275-9acc-87b5ef80740a phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:c265afa7-4fca-45e7-b881-227e5c840fda phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:4f1a4fd7-cd48-4b9f-8b5c-ae76c96b0bc3 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:0b6ebdac-a3b4-4f50-9ede-2f9e009274b0 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:e59a280e-96d2-4dda-8aff-ca676ddc9b17 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:0fc7ab84-0906-4d42-acd3-d7ba7cfbc2df phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4167a963-1467-451b-b383-8479c71bfc1d phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e2df5342-9e98-42ca-8ce8-19f5c0ba2184 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0884b8d9-7403-408c-80b1-eb5cf9094279 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:55264f14-1e38-4695-b288-cd055ae2d9b1 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c20372cb-712d-4f40-9423-9ee72e697cf7 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c0f70ca6-61dc-413b-bbdf-5a3367bd41bb phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:684ab862-732c-4718-8a1a-4bd4d7ebf38e phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c321e14d-290f-47a5-bc82-051e3d3ef577 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:da23e572-dd7f-44b2-ba5f-9b3acc59a511 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:d97c0d89-3f8e-47b4-a109-2cb7884af651 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:35a77842-ef10-464f-b0c2-8da4d1e3a8b3 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4595405c-16bd-4279-81bb-226f8f512179 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:105a4389-4a7e-4e57-a57f-10c630ca1f9b phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:5c469297-745c-4a7d-b2f2-b772ce6a3796 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a835d302-c024-44b6-81ad-dbec5cfe46ac phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:596c7f7d-4f37-4164-ad97-a930e3b19dc8 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:8b5f745b-86ba-48e4-a364-16e066126355 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:5e4f01fc-1dfe-4472-a3b7-18c78dff0ee5 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:cde6666a-658f-434c-bda7-0b82a2b6f89d phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1151f746-6db3-4895-85de-d824dd4041a0 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ef66bd04-f890-4c82-9f31-dacc992d6f84 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:29e74ca8-6bfb-49e6-a90b-459759305ac9 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:5db15005-fccf-47f2-9700-0717287a3a53 phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:5035d4f8-f8df-4e96-b368-1f056b0f4a55 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:2069c869-350e-4be3-a8d0-ef7d585d808a phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:ed439df9-6401-4c42-b229-2bd895fe49cc phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:c4dd5d04-26a2-41c6-bae1-1cbc755c6171 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:bb2a713f-913d-4203-afe2-b5274dee471a phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:18c86e1d-a05e-4d60-8015-5f428ecf247c phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:14e8f597-a9b3-4224-9119-1d960921c490 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:0f571d36-8c56-43f8-bbc7-3b154c049efa phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:3ab6357b-3da0-4b22-812b-a51e059b5467 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:0f627a36-6031-4ac0-8348-49ee3182dda6 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:2afff554-28d6-4763-8418-2485c3d090a5 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:90c217c0-42e3-474b-9610-6e9f2dd6de09 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:42cabe30-76f1-4fca-8c2f-8093cddba66f phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e34514b6-c923-43ec-a9a7-664b14351570 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:84d18752-7ecc-4cad-9037-7c57ba0c3b8b phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b29d85c0-a410-4d0c-a0e8-e33b12caf9a6 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e616ff39-16fe-44e9-b110-579e942588c9 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:7981592b-34a3-4343-bee4-9712e2bb0333 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:db352255-209d-4b08-95d2-14aab387af0a phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:20a4964a-a757-4156-8091-73500f917405 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a08058b6-6a66-41ea-ab61-591af4862ec5 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:9e7a1aac-420b-4877-8765-c7ae2af1dc86 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:67923156-6363-4957-a889-8ed930cb409e phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0d7b68a7-3cc7-4312-adac-dfac49c9e3ce phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:028d166a-bb22-4dd5-ba7d-c16ed45767be phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e013a52f-25f5-4d31-85a6-9d3b4ad4e00b phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ea4e8da0-35f4-4240-b357-9c17057133cd phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0769a71c-6695-415c-a065-92c81ba651da phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:54a9c18c-594c-4a6b-96a0-08cb0cca459f phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:7f5eb311-ce07-414c-b481-3bb16909fa11 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:102defc5-c54f-4b8f-9359-a10efe918a6e phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3d331019-5ad3-4e23-abff-3061e5f0811e phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:abb1e900-f894-4f27-98f6-cdcc06232ac4 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:f3cc094b-fea1-448b-a2c4-68e8ad7aace8 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:2b60568c-ad61-4504-aea0-81b605d57840 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:cfb94469-ad1f-4f0a-baa3-9ac8df00dea5 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c5948c35-4763-4e23-bc1b-91e8bda940b6 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:a5959d9f-6196-49bf-a7d3-09212a35de60 phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:3b826d2b-4a32-4281-9e61-20f65072b5a3 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:bf2f2b3d-e553-4894-8c2c-8ce74fa23f6a phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:fb305f94-1ef5-4fcf-b335-04994c416bcb phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:7d472bfb-b05a-4d13-ac6b-84937182db7a phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:37aa7001-e910-411d-8e64-48cd84d28189 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:5a66fe54-763f-4135-8a92-49e504a493a7 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:1c98fd7f-3c07-4e37-8c2c-b7a5889265f3 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:4ff9e546-3a0d-4677-84a3-dc701f29ab3a phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:a0dd9a74-8ea2-4a91-a9f5-28b6f9e2943f phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:bb480f95-98e3-4f73-b32d-676c8dd3722a phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:7c7adaa9-e940-48de-b1d7-d0854a11ecb9 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:a2f22ccf-a963-403e-9078-22dcd1871e63 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:ef1b585c-2b9e-4c80-b7e1-380967222a3a phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:433a6970-5ad6-4b1d-a5b7-59a81936490d phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:383916ec-55e6-4c12-8c53-45924587a023 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:52de4134-9e18-4468-a8a6-ad26bd772f2e phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e261f6a7-7a99-469d-9dc9-c152cc513501 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:fffd2d35-f589-4fe7-8f2e-ccdaa8824ede phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4a861487-dedd-4f97-a44d-4504c8621f00 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a3e12e46-0849-44c3-ab72-eecf7ff02874 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e6deb2be-8f36-43c9-adfc-93a1a3e1cc2d phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:318be0b8-f232-4580-994c-01ee775113e1 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b8045b04-6db9-48bb-8f58-32be89566e94 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c05ff5c6-4565-4d0b-94b6-298f75417a3b phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:745180bd-76b9-4b08-8f8b-795bf557549e phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3b85b03b-477c-4d75-ba12-1aaf03902c30 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1f0ea141-b35f-4e5e-a78b-f18b7f7a0502 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:158d1cda-ac9e-4b26-8be4-cc1693cc7ca9 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:d305df80-50b3-4352-956d-0a80a6155ede phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1c2ccab9-021b-478d-972e-3310648e8e33 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:2a98edb8-1595-4a4a-bb80-1e00f3f24a2a phenopacket.store:KRAS.PMID_17056636_nan biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ab6b9724-102e-4eef-95ac-c066e53b4458 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_disease OMIM:615278 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:226e4d27-60de-458d-8e00-e600a23c26b5 phenopacket.store:KRAS.PMID_17056636_nan biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:00bbaa9b-cf01-4929-9fd5-d372f2d8bab8 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:303b7868-a27c-496c-abe7-61c70f36f98a phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:914e2793-b116-4ade-807e-7fb892b4ea48 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:2f397d2a-d347-4b00-85bd-bf137211cd6d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:15f3029b-a128-4dc5-ba98-855aa149acad phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:631d3b8e-4c29-4724-9eb7-f62853114517 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:e843b149-3680-4e4e-85be-95a63f7a08d4 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:e6944654-7a4e-40f6-b23f-1dfcd83ab35d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:317375a4-d0ab-4bb1-98a5-088ea930bd4d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:a8e402dc-bd2c-4154-898a-1bfa3437ec2e phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:efe2e899-a9e5-4e6f-a461-af1ddbcdd023 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:aafc585f-fdd4-4009-930f-4b513fc28e78 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:8e59e349-c48e-4b90-8ccb-d5b506e2e6f9 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:707bc8c5-63ea-48a0-a2b7-4c736e3f7e94 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:f744bf38-e8d6-4cbd-a9bf-62bc80fbba36 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3495c473-630e-41cb-a2f8-5ae09f9a7a2d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:f54755c0-6fff-4a93-9be5-d34c177d9a76 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a7c2435b-e975-47d0-acb7-c25bee1d69ff phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:11c89cc8-8baf-4ba6-8807-e15b565da88d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c9d5591f-6c89-48bd-8efa-40540f0b5654 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:71cdc6d4-9341-409d-ae85-2b08b3c6325b phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4934f7ca-9848-4a32-84f0-043ed0b4a39d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:80c40f09-f501-46a2-9fd4-2b5be767c604 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3dc4e8c0-c25f-44e4-9a08-c7a0522d0685 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:92d4c552-ee12-4aaa-bfd6-b1ca73a5ee11 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:f3fc9d0f-7725-4ff1-8545-b8aa058b867c phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3a1b1b01-7c0f-46c5-916a-5589b7eacb36 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:69e53af0-75ac-4222-8bbf-d3581a86f9fd phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0f0011d3-d725-42b8-a7a4-b26c6855400d phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:78966923-5bd8-4936-b212-3c4e095dfd1c phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:46ef7b0b-2555-40cb-9102-0ef5db17d50c phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:95a07902-779e-4268-bfac-3e4c294e51ce phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:6b56a87e-cc72-4431-b8d1-f50b1a477a45 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:549c5665-a3aa-4923-b503-9559dc832a90 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ab865039-046d-42bf-a23d-0b5bc29b9755 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:24b71d68-ddc5-496e-89fa-ea0de06ac5c4 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:6d0580ed-600c-4b38-b3fd-0fc90fab22e4 phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:305dc92e-f99b-4959-8005-616ffecec337 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:72a6c543-c2c7-429e-8510-b5cd4553dd3d phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:c55441a9-a288-4edf-9537-92b570a3ecbf phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:79ceb2c7-35b1-4503-b022-38c08d64b0f8 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:f002e330-4cc9-4a7e-bceb-a8d46c839a04 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:b5e4b146-3459-4f5c-a4c4-5eaa42237d31 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:045d157c-5929-4afc-8c48-5dc319d4a2d0 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:6e36d48e-0cb6-48b0-ac7f-ce42ef25864d phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:16d278dd-d53d-4fa8-a8a3-e123c6cd8a03 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:0c3ba69b-c624-41c8-becd-699e0d1d2caa phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:5579ed5d-8e95-4d63-a89e-91d81e9fa116 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:1d292b1c-a6b4-45ae-a304-22fec9d566dc phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:9a0cdb8c-1b1b-45c9-8b10-988ad01f1d8b phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:10ae2736-b35f-44a7-88aa-11dd5274d423 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:92b271d7-03da-4070-b657-c39dd9234043 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:00af1cf1-d58d-4859-b995-4ee9d36a8e29 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a32c50f3-fe96-4a7a-b1c0-2c858d036a30 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:12499d63-7b58-4437-8b08-6f57e53196ce phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c053e92f-0244-479f-aba7-cedded4c0082 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:52bb9ac7-af79-4c93-b77f-f53411512c26 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b6a4a5d2-9733-4570-875b-afeabd026cc3 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:38b923b7-a5e3-4b1c-9312-8c55e440b2dc phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:c3d72254-f39a-4652-b7a9-27f335dbeefc phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:246239b6-8810-4609-b423-e6a2de1797b6 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:8b9ac92b-b437-4ef6-a9b4-f1d96e319c5f phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:af606cc0-b621-45ab-9ded-45b746543b46 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:6ed45150-46f8-4cca-8b19-806954c61b88 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1ef5e702-dcfe-41f3-afcb-7668c6d52443 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ee6994f1-b1af-4cf2-90b6-38094c30fc3e phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:558dc901-abee-4b2e-9f52-554860697826 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:cecba6e1-f339-4e17-997f-d6f9d5cdd5dd phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:aafb7f28-3929-4c70-b15d-7758e3a79b77 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:9e803213-9ca7-4e3c-a2cf-edb7c6e3d254 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:44fe472c-2463-4fe4-9368-bfea6b523886 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b2ed30b3-e799-4732-b44c-f3073809b428 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0016b31c-c2eb-46f6-ac35-7a63a630b1ef phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b7352281-374f-4eab-9b0a-61c05e352bdf phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:021726ad-cbd5-4dce-9500-1848d2222488 phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:723a9393-116d-4bb0-9f33-f24f4d14302f phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:426b525a-bfaf-4ccc-a3fe-a6dfceabe7db phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:103f11e3-0af2-436d-a38a-52fac92c4125 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:21a29267-2153-420e-bbe3-1d469b8ef9ff phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:aab7371f-606f-4654-a53e-f99d3355d4a2 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:73bac1cc-327f-4a9c-81fd-f88d1340d7e7 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:b64c3aea-7fb9-4ef7-9abf-b4f90463c421 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:2686face-c57f-4676-b204-ac5e39631f2a phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:fae8c706-db19-4420-bb63-9f31e48de3b0 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:c496fc9c-c454-4975-90f6-bacb2f6785a2 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:ba280f5f-469c-4ac3-ba29-7bdb591f07db phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:be93fb48-1762-44d7-81b0-6c2f13ec533a phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:f83aef6a-01ae-4415-a529-24eb53d92be7 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1f70c82d-2199-4140-80be-617530912e2e phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:07770ba2-4264-4a26-ade8-e2fea930628e phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a3bb5057-7886-4101-84f6-373f7e0b9faf phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ab1ea5b8-0fa2-44aa-a324-c07ec3885fa3 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e16dc034-e997-44d9-8c5b-f338392d4690 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:8040cc94-e1bb-4c6b-8b2e-714963d301a8 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:2adff2cf-8f0e-4dae-a2dc-c9f1f23126ce phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:92c8735b-7677-4dd2-a375-e1f487eff539 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0c392cc9-91ba-4ca3-8c48-3e966e46e957 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1632785d-3346-4ab6-b3a8-20bc794589ce phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:8c50b5f1-8ac4-46f3-a372-5a92fc38199b phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e781604c-ee88-4c93-971c-97371fd7fbed phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:d8667e16-5d1c-4544-906a-3b81a11fd95c phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:55984412-8be6-4d0b-bad7-08588e5772a5 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e50655a4-5849-47c0-ab47-93e068be6342 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0cd4a304-838e-4605-9458-3f2a5364f145 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a30f9162-4666-4980-8ce9-ce85629dff13 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4b86d25e-c9b3-4d85-b0a6-d914cd46b8de phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:a028d562-3ebe-4c93-ae29-3cf5eb141056 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:bac27752-0a00-4d5e-8b6f-347170fc57ec phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:250e0425-ccc0-45c7-a4fd-edae6c3eb0fc phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:7871add9-655d-491d-9e92-2ba13c6610b8 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:b52a890b-8e39-47ca-8a85-fcd0c3a4b1d2 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:aec3c58a-5c4c-4d60-b4e2-8b23e34fcd45 phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:c31a3933-0636-439b-8887-d9cfb6ed6c8f phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:a1d6ef42-ffbf-4db0-8376-7e3ab6d091df phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:ddcef9c2-12b9-4aa6-b701-1ca46ec81cb6 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:27ac7dd9-619f-4537-aefc-7bfa6103892b phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:cf3af97f-acf9-4716-b4a9-3b3830702e00 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:dc27d0d5-262c-4b66-a3cb-bf5efc3f6109 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:7bf80ea6-0266-4ef1-89ce-85fe10d7ce84 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:2bb18c8e-aa6a-4df6-b463-65503c1c1466 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:55ac7db2-ea6d-4a42-95ac-11d088d5a09a phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:5e03fd11-619c-45db-91dc-6bf837a24a75 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17056636 uuid:f13d22a8-009e-43f0-abae-09b31a9c24b1 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:316bfc13-86ec-4548-84c3-ca0b065a1727 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:230a1baa-ed3a-458e-983b-0efd04da9de5 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:59ca63a1-0cae-46fc-bd54-c158e5ceeac7 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:2ef6d877-05c4-41b9-8da6-1358dd368dfb phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ed14c42a-63ec-459d-997f-3df8de896c25 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:5cf0d410-f7b4-46b2-b453-4403aa34207e phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:1482f2d4-34ef-4b4c-9ded-59f8588a4c70 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0af99113-cbde-4c9b-98ff-8a473627cf58 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:61d787e6-0970-4f97-b14c-b3f97007e0cd phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:350186ff-f625-40d2-a4f8-64fd313bbeb2 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:0ba7e818-e4b4-4cd6-849c-228c0ca7c008 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:aad0bb2d-6f80-4442-a618-7b4f802d9d18 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3402fdbf-f3f0-4a33-9a99-1e256480eeb5 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:de30d831-660d-4b4f-8a84-15151051509d phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:dbb65233-6873-48af-9539-af0127791270 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:798e4c19-aa5b-4698-a047-e36e6518afdc phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:ec98e70a-7215-4b9b-97cd-ce41f11d0a27 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:e2111122-94e7-4230-8193-794ef7b952f3 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:efa1fb5b-6af9-42ce-b328-165d4327d45c phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:3e0863db-2fc8-452b-98af-63913bc6367d phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:cac15f48-2490-42bb-8010-abc6b271af12 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:d5ea5415-452b-4c31-9b7e-7d79c0b33938 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:fdadeef7-b052-4ea0-ac43-8c4235a6b5d0 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:501c0f47-c06a-4075-a886-7960fbb126a5 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:9e582bda-6059-4832-bec8-250300d0cd2c phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:4f618dee-eb58-4ac8-96fe-ddf0285d30b4 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17056636 uuid:59346e1f-edac-4846-a09c-d78f83c15fc1 phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_disease OMIM:609942 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:b705aa22-3562-476d-9130-aef58b51d88d phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:has_gene HGNC:6407 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17056636 uuid:0717be6a-f5f2-461c-b82d-45a203583f16 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0005595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:35ba883f-8f0a-42b8-9d9f-5ee1fc86fd1b phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:49578eb3-45bd-40e1-ae4f-19c47d3be762 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:1cedbe12-633c-4c38-b8b1-4b6fc71ff1b7 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0025092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:5e53082b-6690-45a5-96af-ece7ed584b62 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0025114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:efdc9459-715e-4e2e-9b1c-fa7c871387a6 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0034703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:68879364-7dc2-4025-b2ce-7aaca9edc0b0 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:4f7098ac-d3f4-413b-8d43-aeb7ee99a91a phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0031288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:aa8b0099-fa6d-42d6-8adc-58a04f5de209 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0004906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:fd26ef74-deec-4f73-a58f-9205d3d62ba2 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:90c2c886-7c1e-4a1b-8409-d19c88bde8d1 phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_disease OMIM:620707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16505000 uuid:05198127-38ac-440a-88dc-3fbbcc6b006c phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:has_gene HGNC:6413 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16505000 uuid:d5b884b0-ed5e-482f-b53b-174e3daefa47 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0005595 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:083a7caa-4599-45bb-87d2-70a5c4508499 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0031288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:74344b5a-670a-4207-b47b-96e5b4955409 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:ed37cf9b-a805-4e07-9981-f560063635a7 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:be155f2e-4279-4bff-a676-fe9153c8116d phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0025092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:d5ac1295-6ef6-43b8-8144-b10f9bd08ce3 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0025114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:d8e2c0ac-fd32-4c92-a270-12621b79f7ed phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0034703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16505000 uuid:ac72e726-67e6-49b6-8efd-900e69a57f34 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:284361bc-8ba8-43f2-ab96-89464ee76ba0 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0004906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:0e9da0ff-9d54-4d0d-8b4b-c4b90737f2bb phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16505000 uuid:134795d5-e2d3-48a3-90e2-c8d5c10ca471 phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_disease OMIM:620707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16505000 uuid:2f47e169-ca86-4a2d-88de-5810b8ec257d phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:has_gene HGNC:6413 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16505000 uuid:512cd556-8f3b-4b9d-a720-b937e07f9daf phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_phenotype HP:0025092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19474805 uuid:d06b7809-d64e-4e07-91fe-2e285a01f81a phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_phenotype HP:0004906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19474805 uuid:993ea2bd-ba3e-48af-8e8d-29c316da35fe phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19474805 uuid:a9cc9fb6-b693-4d67-a376-73f42a449c85 phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19474805 uuid:68244d9e-aee6-4f48-ba70-9a4ee0ea0f72 phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19474805 uuid:eeb9137c-13a2-46a2-9622-e4b718246087 phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_disease OMIM:620707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19474805 uuid:b92ac7d1-87e8-4cce-b1e5-143ae6c56f45 phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:has_gene HGNC:6413 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19474805 uuid:83417f38-1a43-4484-bb6a-d14823542c7b phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0025092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18219278 uuid:4c597c7d-3358-4df1-ab46-f62fb8dca69c phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0040162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18219278 uuid:858251d3-af8f-4620-b2b2-8a5d4475fbf6 phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18219278 uuid:cba40820-e5f0-460f-a309-be5b53d0703b phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0008066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18219278 uuid:49a1b368-d67e-4d67-a59c-8414ca62163a phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18219278 uuid:8fc455dc-a228-4462-88ae-8c916c16cda1 phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0004906 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18219278 uuid:b2b2a2b0-51aa-49a5-bc58-b74ae7d6ee05 phenopacket.store:KRT10.PMID_18219278_proband biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18219278 uuid:38933667-b5a4-43ec-a5f3-456262a03569 phenopacket.store:KRT10.PMID_18219278_proband biolink:has_disease OMIM:620707 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18219278 uuid:fe684e34-a835-4ac9-ab59-c9b6394c7c3b phenopacket.store:KRT10.PMID_18219278_proband biolink:has_gene HGNC:6413 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18219278 uuid:d698636e-193b-47d3-9a30-e891748dce12 phenopacket.store:KRT9.PMID_18477167_III_4 biolink:has_phenotype HP:0007559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:18477167 uuid:6491ec54-818e-48ef-a63a-4abd7a65e2a8 phenopacket.store:KRT9.PMID_18477167_III_4 biolink:has_phenotype HP:0010765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:18477167 uuid:95cb27e6-3895-4c05-89db-17b31754ab92 phenopacket.store:KRT9.PMID_18477167_III_4 biolink:has_phenotype HP:0007556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:18477167 uuid:3df739f3-49ec-4dfa-8f06-dc42bddf5065 phenopacket.store:KRT9.PMID_18477167_III_4 biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18477167 uuid:d8b2c78d-fd35-40b1-b3ba-202500e563ee phenopacket.store:KRT9.PMID_18477167_III_4 biolink:has_disease OMIM:144200 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:18477167 uuid:139cf11d-924d-4375-95bf-95e8b323ee79 phenopacket.store:KRT9.PMID_18477167_III_4 biolink:has_gene HGNC:6447 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18477167 uuid:4a99d570-0904-45f4-b07b-02a127e9ba6f phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:1ef9f609-0f5f-4fb6-82a2-fc189051a268 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:c45b7c67-2b3b-4aa1-bd6a-dc06abb09ec5 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:b5d114d2-b085-4b97-ac90-9bd54a5b6c6f phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0012574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:6ad98ff1-e854-45cb-868d-74686000c5f0 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:b46267d1-dfdf-4792-bac5-ef88c1af17e0 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:22b04b74-1f77-48fe-834f-cf110e9c00b6 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:f1a03f54-99ff-4514-9987-0c4ee28a245b phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:afdf08bd-5e12-490d-bb33-3a2939efc1c2 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0031266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:3120bd7c-6868-404c-8e1b-1096713773b5 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0032582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:b43d9b7d-b93e-464b-85a4-e16104e8e227 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:a90a5fd8-b17c-4456-bd9c-9985e3911359 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:8530d1d1-5205-4972-876a-bd33aaecac9d phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:ca895e6f-2c71-4140-aa96-d2fda3b7acec phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:1e2fbc90-0df0-4056-b2a6-7424e2d89680 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:597ca688-7fc7-407c-91cb-21dc52e51435 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:21236492 uuid:da68d460-b110-404b-8670-c9e7541bc857 phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:df29725a-5052-41f9-980e-2ecbfee88310 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:3d553b76-202c-47c3-89da-d681b5226e34 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:a58b6eb1-923a-48f0-8e3d-7f24e87fbfdf phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:f3926367-1651-44a5-b89f-2ca8120f46ba phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:c26dfe18-afbf-49d2-b7c7-aee98e1f013b phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:756ffd59-d288-4406-8eac-00dd1c5ca6ce phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:a549c04c-b12c-47ef-806c-62e1bc97dd89 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:a2905009-c15b-4261-9d26-45b679962359 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:5e61a1fa-fea7-41b2-8827-6cb4449d5e84 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:c9a9184c-9109-4e53-9315-8940cd6a2135 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:8d0daf01-4dab-4e44-81d0-f61e5bf745c1 phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:687c8ef9-50e0-4e8e-8bb0-b3697e176190 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:b5fa54aa-8c56-4f00-8b5d-a0c09748875e phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16912710 uuid:4845d6ef-6ecc-433e-a26e-aacc88b4ea94 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:d32e4cf5-663a-4974-868d-c621746185f7 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:e3a9177e-3693-4dab-9410-b9a606a7b437 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:fb0db666-3133-4fe0-a12f-6553f7624869 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:16912710 uuid:59757516-f6ad-4f93-8c97-2e668760d49f phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16912710 uuid:c8fd8336-864c-448e-bb93-289395ff2ece phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:e913cc52-36d1-4b32-8c15-cf839764c61a phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:58e4b5f2-3c5f-4e8c-a38c-0dff0dce08d8 phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:654645d9-4e73-441f-9ef9-e80420a104e9 phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:ccdd0eb6-ab6d-4988-8832-0ceadd165294 phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:d7966319-eec2-4098-8cd2-1e73670d988c phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:e1d59c69-ede6-4a31-a7d6-6b3ad28699c6 phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:68b7a668-d5e8-4f08-bfe9-ffcabb710cae phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:7b2bd1c7-5df5-40a5-80f6-633a3f5f137f phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:2ba14a74-b338-4c85-b706-ed130ac3e828 phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:21236492 uuid:e064d851-673f-41c2-879f-1da5e7777390 phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:5029313f-1129-46a9-9a40-c9174d03834b phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:4325d5bf-6ef3-41b5-93cf-a5860cadbf6e phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:c582cfc7-bbc3-4482-a73d-f7d33c03bc27 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:58a0d48d-f466-4371-825a-9e3134e3d104 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:59f3bc29-563c-4c7a-8e96-95aaeb77352d phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:06f6b334-957e-44ac-8888-994096f30fa8 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:0a13f1af-e5fc-442e-8b40-ad82e05f9b89 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:bbb2cbc5-541d-4e5a-bbd3-d0c1bfa4ccf2 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:7662a9c7-f4cf-44df-b9c4-33789d75c31f phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:51c1dd7e-2bb5-45ff-a24c-5788d01115f8 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:e5b39eb6-bfe7-463d-9a7c-e1322f974603 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:5d7afd34-f612-4cad-ac61-c41f89303ab0 phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:f22e9ab6-78f3-49ab-a9f2-0288c689988a phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:bb07cda4-6fed-4c10-8c6b-e43b8838e191 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:a6455e6a-bced-4d89-9c6f-10fc4c5eb2cf phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:125d316c-581b-4b8d-9355-02b61edc0924 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:9ee2e980-bf7a-4c5f-8baa-83d8abea69ad phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0031266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:cadc589b-77e9-47fc-81e1-5f93289d4ab9 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0032582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:2e0c1451-2c80-48a5-9e2b-7ad2cf67f99b phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0012574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:4f9911cc-4c54-44c3-bf36-297de88d5312 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:a0fa0d19-2deb-4d25-a558-3492047ae8c3 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:ca89a46d-7900-4e3a-bb9b-d824648543bf phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:25b499e0-5650-41b1-819f-21b7db824ae6 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:03a091a8-dbd0-4b74-834f-944cbaf58c32 phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:1527f5a6-96ee-4c1c-8a17-5625b714e38d phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:b718a2d2-0f03-473e-bbdd-a139cd334ecb phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:693d6d7a-ac7c-424f-bce6-ef7f2410d36c phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:1980fd66-44d4-4318-aa2a-2afad63554fe phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0012574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:000c777e-fc53-4239-b318-baeacfd70373 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:18f15699-6fc2-447b-90c2-bde80327a968 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:e39042c6-f702-4c8f-8374-d4a74ec6f135 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:5749086b-f7f2-4a69-976c-4ba667cbc796 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:c9ba859d-3123-4dc2-bdb0-445fc829237b phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0031266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:64f283c9-048c-4a34-90a3-9b2c754a7daf phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0032582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:e1034f24-8993-474f-b17a-cc550bcf3bd3 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:18f7059c-ef81-4f57-910d-d11a4b25ae94 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:b6e07abd-a841-441c-8522-9b9689156e29 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:62a5e86c-128d-486e-8809-43892f09c055 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:7a7d874d-19e2-4fe5-b349-4fc00690a780 phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:da77d9d0-fdc9-40db-9c5c-6490e6fd940a phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:21236492 uuid:20051aff-0614-4c46-8d2e-585d5404f27b phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:343e8fb7-9d52-4e5f-a28b-256c3685f3e4 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:a0d80592-1b22-416b-a24b-bc00efcffdb0 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16912710 uuid:b2689872-48a3-47db-8abd-e2499b82cd19 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:c19e6441-b29c-4ab0-9702-89cd5abcd83d phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:2406def8-c690-4fd2-a3de-079aeb931e61 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:d82050b6-957f-4605-83b5-d6df9ead6b5a phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:48199862-6436-48d2-b234-15a61a5d34e7 phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:16912710 uuid:951c73ef-f9e6-4883-a83d-edd523a0c9de phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16912710 uuid:ebb2ba50-f7ed-4e6f-939a-f12ab6a6c165 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:1fdc6efe-b09b-43de-86b1-29f6c4957d92 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:16912710 uuid:853b4092-db85-4814-954f-1af592f22557 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:53b1a519-b89f-49b6-9a82-9587dc4adce4 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:8f05bc2f-d7a9-48a6-bb28-95f9b7744910 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:16912710 uuid:711e9b76-6e0e-4daf-aaa5-2c51fed3a9c8 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16912710 uuid:a013b8c6-e297-4f34-b4fb-f587d32e943f phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16912710 uuid:41ba42ac-d376-4572-b938-6148739031d2 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:16912710 uuid:60e54c77-f7e3-4c0c-be11-7e6dfbc3d9f5 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:16912710 uuid:f68e3436-a8de-4417-bbfd-05da2ed63d21 phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16912710 uuid:e19e54f1-ed6a-4575-836f-f59ae857db5f phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:16912710 uuid:6ea13eb7-7239-41fd-9c7e-09ec7821f87b phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16912710 uuid:8d92920b-2927-462c-a083-c12833782008 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:21cb809c-e948-4bd2-8423-093f51fcb028 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:f96c873d-121e-4a80-8be0-957d637b1744 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:1f75d38e-9784-4fb8-9e69-c09e773d8d10 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:d685b454-3a28-4044-b09e-e9a09f11155d phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:8d17242e-ad7c-4b7d-8d0b-2d9ddb60de8f phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:3d2b5962-ce46-4a1f-9b2a-dd66839718c9 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:9437555e-5de6-4233-814e-e08ed48907a7 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:775c2443-4d67-4ca3-8efa-b44c79b392ae phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:cf9e95e5-eb58-417b-bf96-7bf1661a7064 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:ad3dfe87-abab-4802-a175-764835bed3bd phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:f2400015-69cd-49e3-86d3-4cf320281f45 phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:21236492 uuid:69092169-2a49-4311-8969-7003ef214c5e phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:d83080fe-0fc5-4f08-9da9-394ff25a9b68 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:b76391b7-4517-4b96-8374-d616c1f25666 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0012574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:a1428e83-3cf8-48bb-8121-77d5828ccd0a phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0000099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:d6d9cc8e-8ad1-4fce-8678-94e24ffe579d phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:82b5349e-2718-4312-926b-809baf4dce25 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:20f63e81-2a08-4172-8f51-b95f8f50951f phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0031266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:f06c8c37-13d3-44e9-b05c-5ef5e9092fbe phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0032582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:e8200d3f-9773-4d2f-93de-f5451b6adf78 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:74997eef-6aa5-4e0d-be36-b71b3828e96d phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:64094ccb-3c65-464e-ac71-e40e99ffd328 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:5d59ec8f-6eb1-4070-b6ad-346861128935 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:4f637971-aa62-4897-be9a-976a5092247c phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:89abefe5-24a7-4aeb-8cc3-1f0d30df6759 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:21236492 uuid:463b2ee9-4cbb-49bc-a7da-6e77aad963c4 phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:6ab8679b-f9fa-4cdf-90b3-c16ac773beab phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0001967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:b53720c2-b356-4d96-b357-b254e8739cd2 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:760c1fa0-97af-46e6-80d7-e9ae78124e3d phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:a4b6e46a-a555-4066-be11-b8b5267656f0 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:ba92b89b-76d0-4fc3-a86f-f46c48002ba3 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0031266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:0f42b89a-252a-4e4f-86f0-4341b028b315 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0032582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:7bc1012e-e734-4427-a06b-d7804d7aca4b phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0012574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:4e35b8fa-1e04-4089-baf4-df574a06ab54 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:15002733-3130-4477-b77b-60d4da76e283 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:b46106d8-9c33-4d13-ad06-f2c0e5b3747e phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:d9236abb-57ee-47cb-be7e-ae844091a528 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:79fe692a-b736-4784-a019-eadb2d82a11d phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:069199fa-2919-4032-aeda-abb6197847f9 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21236492 uuid:d9fe5ea9-30dc-48c2-8ae4-8dc15ef59b8d phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:04e5349e-acd7-4aab-815d-1990ec4db293 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:0aee76fe-706e-492d-a923-bf5a5d00593f phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:bc464a86-5596-4006-b04b-f2ad1bfb272c phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:9d783c2e-c580-417f-927f-5ca86e42ef39 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:63774439-eb76-4e27-a3d1-e5ca81c0c730 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:d8753f02-5893-4ae8-85a0-d51514f2bd96 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_phenotype HP:0001104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21236492 uuid:12665783-352f-40bd-a7d7-24e38e241b17 phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_disease OMIM:614199 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:21236492 uuid:68d75d6f-906d-410f-898a-3f981cb2d4cf phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:has_gene HGNC:6487 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21236492 uuid:35ceb69d-caca-413b-adb5-259f56be27a3 phenopacket.store:LAMB3.PMID_27220909_proband biolink:has_phenotype HP:0000705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27220909 uuid:2aeda3b0-ef9d-4922-9425-b7acaa5e9e03 phenopacket.store:LAMB3.PMID_27220909_proband biolink:has_phenotype HP:0009722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27220909 uuid:a306d00f-6059-45b7-9ae0-45018142b4ee phenopacket.store:LAMB3.PMID_27220909_proband biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27220909 uuid:8db626b9-6356-46ce-b5c2-6d36e6e62a26 phenopacket.store:LAMB3.PMID_27220909_proband biolink:has_phenotype HP:0006285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27220909 uuid:3bd1fd9e-9972-4cfe-bb5c-7f6974ff802a phenopacket.store:LAMB3.PMID_27220909_proband biolink:has_disease OMIM:104530 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27220909 uuid:dfa612c8-ff8c-4b7e-b305-0a0289cb4b9e phenopacket.store:LAMB3.PMID_27220909_proband biolink:has_gene HGNC:6490 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27220909 uuid:323371f6-6544-4bef-9e98-a8b28695e08e phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:c2dbc8f0-4ee4-4321-b9cf-db61af10e628 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:02c9703d-5f6a-42a0-821e-56c2bc6a2995 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:c72531c5-cd09-4f2c-9d23-2d11581c947e phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:c180b939-1434-4e91-b2fc-00584a424d81 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:950e42c8-d5fd-439e-b492-9849b6636cab phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28757203 uuid:452b7c91-0281-489b-a720-4f39980623f2 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:f6267684-76d0-4b7f-85bf-11c37766976a phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:974604c0-a0fb-4bee-883a-47b15e2fc8dc phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:ef6079a8-b688-41f0-a2d3-92b9edbf4780 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:83e46536-80d3-44c3-8380-ea13103f5bb3 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0031518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:1aca69e6-63a5-4b40-bb4c-6ffac29823bf phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:f7b9ae1d-fce4-4f33-9d69-5f765458d604 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:273191b3-23f2-46ab-b6e3-52655c29bd15 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:d0e2786b-9064-444b-a38d-1dd541809933 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:53ec59bd-95d2-48f1-a741-612a1a15c01b phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:7e7ea116-ccfc-4f87-b9a3-ecec268ab151 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:8686394d-5222-4edf-b715-6cbd2fb2278e phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:89702798-5df8-4833-9ef4-3922f97355df phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:a795fffd-2d93-4971-874b-7e2c9faace27 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:af713f33-a541-413d-a110-1d6d513abb5d phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:ebfa7633-f69d-4192-b9e6-c932358afdaa phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:af4d8346-33eb-4a4c-b5b6-e43890069b8a phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_disease OMIM:617668 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28757203 uuid:1062faa7-22b3-4aae-926a-528f6361c902 phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:has_gene HGNC:37216 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28757203 uuid:d0a15c9b-a9fa-48ca-9c73-75ead5926d86 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:85ad7ed1-1c95-41d6-89d4-f2ee2dfbd279 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:1ba5cad3-fb8b-45f9-affa-983dce49fe4c phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:ad3591f3-8c98-449d-877c-77fb8eff95b3 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:e701a97d-5fde-440e-a9e7-ac5b6c9e11f2 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:7594d616-a974-4089-975c-bbfa2c954812 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:8722d960-4699-47ca-9da9-f08fee5b859e phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:064e1ac9-90a1-4038-9d6b-da23099cd993 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:115f479d-4c38-4243-9159-4c444702de22 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:5d6946cf-034e-48ff-9313-d30463683929 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:8cd9ccd0-1629-4efb-879e-4a2d5622c016 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0031518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:b477de3b-829f-4a29-bfd9-cecf10dc150f phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:30046ca3-dd54-4b43-a5cb-844c7e1fe8e2 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:3311d07e-6a8a-41a8-a28b-69865e1e517e phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:9f1d473f-0c25-46b3-8000-27e12f6da348 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:04dc938c-e1c3-443f-9187-101f685e27e7 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:625cefdf-d2c6-4911-b7db-aa753941dd8e phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:2421d7e1-6f55-4573-9495-9c3774a17229 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_disease OMIM:617668 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28757203 uuid:dee76687-e447-4ec8-aab1-d24df9648ad3 phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:has_gene HGNC:37216 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28757203 uuid:fe39c69c-1f58-4c89-ba27-db704f461e00 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:2f0dbe3a-2d3c-42a4-a942-c53b4f1e4b65 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:5ff2ed2d-77f0-4560-b053-781d343d98b8 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:a1cbaf2e-ce45-4571-aed4-2ce358ad098a phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:5704cf16-c6e8-4d8d-bd21-ccedbdc9b449 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:01d47c96-3959-4e9b-a8b3-d896a7794cf8 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0002154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:0c068fd0-bccb-4e0a-bf23-01712da8f072 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:b97dcc61-839d-4cd1-a16b-ab4657e32380 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:a016dd84-4085-48bb-81de-a93d0066177f phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:5612f5a8-633d-47e8-a8f8-ca5248f64c82 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:a85b336f-2224-454f-a992-750ec5fdcc67 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28757203 uuid:0036fbc4-7153-423c-b464-cca233aad3ef phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:62523cc6-e36b-495d-af37-09c6982ccebb phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0031518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:182422a3-7907-4231-a414-e0ba24ee27ce phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:52e58be3-0bd5-4694-9c3f-0a2e1907b187 phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:22298f7e-e98c-4c50-9f00-40bca4140c2d phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:a0aa1ec2-101a-453c-a74f-230f003331ab phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28757203 uuid:8a2c51d4-b551-48c5-9d5f-81ed1222940c phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_disease OMIM:617668 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28757203 uuid:96212230-2040-4bde-b800-76e7bcb62a3e phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:has_gene HGNC:37216 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28757203 uuid:f7d3b1c1-3130-43fe-81e1-d404949c20ee phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:c0c490a5-7f20-4a1a-a67d-f20065a41250 phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0003431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:09a79416-e44f-4a50-850f-9e89eaa684a2 phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:4396a1f5-dea4-452b-b997-224bf2be792c phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:d6c27bdd-6493-407f-92c6-8c9c06a1fd6c phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0003401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:6d47c111-ace2-4551-845b-3674b5b858ae phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:8cdc5c84-2475-4b79-a9c6-44ab5d5a3150 phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:cd7f25d5-8efb-4a2c-b28b-9e7047f52b12 phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0007078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19541485 uuid:d8202daf-2c50-4a64-be3d-5a0e9cf5d28e phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0031910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19541485 uuid:219ca611-b356-463b-bf67-6202cce6692a phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19541485 uuid:20d8c188-10b7-4ba5-a63f-f74eac9a0ff7 phenopacket.store:LITAF.PMID_19541485_patient biolink:has_phenotype HP:0000649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19541485 uuid:215477fe-3890-4f8d-b44e-4ceb02f10a4a phenopacket.store:LITAF.PMID_19541485_patient biolink:has_disease OMIM:601098 biolink:CaseToDiseaseAssociation manual_agent observation P57Y infores:phenopacket-store PMID:19541485 uuid:fce30051-d770-490f-a92c-5e717b14d5b8 phenopacket.store:LITAF.PMID_19541485_patient biolink:has_gene HGNC:16841 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19541485 uuid:b159de2d-0346-4453-980e-9c201304e2c2 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:37843397 uuid:eced7a7f-2160-4c26-9ab1-6b93abc5c81a phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:59457276-5a95-4982-94e5-c937ccb038a3 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:50decc2e-e48e-4acb-bb33-fa74b6c0a3b8 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:363400c1-cb46-400c-a231-68eba98bd03a phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d8a38515-d50d-4a48-aa07-6581d57d79d4 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:edd54f14-cf60-4b57-9623-e5298ee1fcc5 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b98d14a8-586b-4a59-bd3a-47931381a223 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c5b0e456-939f-40f3-8905-5e55c59c8f3e phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f5c90f2d-faa6-442f-97ab-ca2659eea734 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2b5c1a32-08a6-4223-99a5-6cbdee379d55 phenopacket.store:LMNA.PMID_37843397_TR37 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ae7a4b99-edb7-45a8-8768-7b81a2a31524 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:77096932-1bcb-4583-8000-69f0316a1267 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:54831fe4-b750-4ec0-965f-5867ebcff5a5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:683b5bf0-4333-4e4d-b90f-e57333511e26 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6ecb75b3-ad60-4e83-97a2-e9523599a114 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4922aadb-6d41-4ae6-9672-f2d95d337c02 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:989d8ec7-ff0a-4b10-afd9-2b3233f688e3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7a0354f0-06da-4045-a771-5c8cbfb955e6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b350d0df-31b6-4739-8d9f-7ea74590e2d7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:aef9209d-9958-4fec-87b7-f6173d45934d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:27667f89-c918-4000-a02d-0ce22b22f3de phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5326383a-347f-4f5e-969a-0a5fcd2b2743 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c8fa401a-c9c7-4b23-b4cb-1aae9cbee8ef phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2cef1001-b6dc-4bd1-bac6-7fd1010778d8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:77ae6056-3b79-4870-a2d1-397ab08f2578 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d4e6911d-17cc-49f8-b04f-49991b87a848 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:01143e60-cbfe-4f96-9eac-791be6ec1f21 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e034f9eb-f08c-416e-8353-85b2d4022c1a phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:af47da81-a1bb-4148-84e0-e672cb29835d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:934eb494-b3d5-47c0-826f-f8ac6a5a252f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e5775745-3cb6-481e-b3d8-36338c744e73 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c9085e5f-b5a6-4757-b19f-04acf2d3b963 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:94d38bfa-4990-41c3-9252-425210f4f604 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9d681a1b-ce0d-46be-b921-fee7a9bfb9f8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e6b365be-358b-4c98-b6ef-eac09257e8a8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5e64c532-153e-4934-b634-15aea019f671 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b6bcbf20-37a7-4e02-b845-d335ddbbd1e8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e9137244-9669-42eb-ac38-3fd1715628df phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8541a168-38dd-43a7-9f13-d45dd36f5195 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:053defbb-f6e1-4a29-bbcd-a61641fb9a79 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b0ad0e64-b523-4cec-ba31-c033e42c2626 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:470e6ada-85b9-4d9c-9fe4-d040884f7c4b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e8dbd750-2b77-424e-ae7f-d54db7e20b38 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:948db120-157f-426e-991e-6ed08e648812 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:bcc57ba5-b3e0-4791-bea8-e3b0edb67c39 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:630725b5-37f3-4158-87a7-a7f64042f527 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ee0d2278-3023-4bca-b514-cd84f8e870b6 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f2bde160-377d-4a8e-9bc4-f91e461db021 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5887a709-56a4-4a9c-95bd-35d34e96c52d phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:df0b47cf-29ee-4ad3-bfe4-17342f830fc7 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e9918263-b526-47e6-9de0-c3cbb61db122 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:21a80a71-79f2-499d-ad6b-8f914126e4d2 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1bbab0f5-ed66-4373-83bd-49dcc2e3587a phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:de42bdd2-9854-4ccc-8762-0f0f4dee812a phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9c8b864f-6626-4d99-9aee-65871dda0e20 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:353be02e-691d-41d0-9a93-47438c3b0732 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1b0c5026-fdc5-4269-9e57-e28aa4718f1c phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8941cc1f-61d5-47df-bbc6-5474e59e6615 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:db79faed-5f7a-45d6-b65c-dbbfd0f409e3 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cef323a2-6d57-4780-83fb-6d706bd7b8ad phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:10580070 uuid:7178091b-e728-4764-9b14-a341e8f14740 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:97568fdc-41af-4abd-8877-4bb64073694d phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P77Y infores:phenopacket-store PMID:37843397 uuid:3ed7b50c-5c1d-4aef-bd8f-e3c65df5a5b3 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:85e9ba53-910a-4b9f-8349-a9cbcfc48f73 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0b7f2226-67d7-4fb7-a3a0-3a43b89d3243 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f4f42838-e3a1-4c6f-b967-64c791343338 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:92314aae-bce7-468b-b931-c5c533f70ec8 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:afe0c53f-e4e6-4e41-998a-13e418648282 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c9bc13f9-993a-42e2-b150-dcaad4c1eed9 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ef1ea8b4-01f2-4cd9-a850-c78d9f82524d phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:db1733fe-aa4e-4649-bf70-657382e83790 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d2aed0d6-2d42-424b-8bb4-8c7e80a7f456 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a207fca2-648c-468f-9a46-e95771a8fe3f phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:860c5789-02bf-4d31-8346-31c3eef74a30 phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:0c20f087-e3ab-4bb3-aaac-085d0d067858 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9f966024-75af-4813-91f7-55db02f6fe3e phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a0912a89-6a27-4835-bad1-d6f4ffdacae8 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ad944295-e42d-46a5-beaa-e9b295f7f9f6 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:081a6d70-a879-4c5b-bdc2-87d79f9b0584 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7dacf526-98a3-45fb-be49-9cf2c830713d phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c9aecd7c-ca76-4ce9-8959-d586a5cef1d3 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:375c3e59-0c31-424e-bbc6-47c0d4cad935 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4c5f2077-a337-43f7-8a17-6a75b6e0b415 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4dce00cd-8966-498f-b60f-7d7fba2ba7fd phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ad841c64-b7e5-4675-ae65-c574637dbe1f phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:48e15b99-6308-4caf-9f13-1a38d731f851 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:84821d6c-c118-4587-8be1-5278cd1d3462 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10580070 uuid:94e4604f-0cc2-45de-a7e1-9e1f9e50bf20 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:071e71ad-a297-4ef7-96a2-5790f6d45a69 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6b76f362-edf2-4453-ae2a-1417d881a674 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:3dfb565e-9391-40ff-a66c-80e36d8723bd phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f9a3213b-16ad-4d09-b003-b5372f258e84 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0de80be6-af44-4a81-a80d-7daf118027a2 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ecc6d806-4e38-457c-b740-719703372699 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f355de55-5555-4c8f-944b-8a57aa630abb phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9a516456-e531-455d-9aef-8bc5f312d6dc phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:1e0e7b37-2f96-409e-9252-fbb629a1275e phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:17368e04-5056-4ad5-b603-83ade6af7e21 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:5f18af55-a06d-42fc-bc07-a2904cdf2554 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e9b91d45-cf29-48f8-b116-f036227db96b phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0439ba4c-4b49-43b4-a392-4342c2da82ea phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7935e497-dbbc-40ec-bd73-ecea275654a9 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c9eb9837-17c4-4a86-b4a6-69c0a0ccb8a1 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0510dadc-bacb-40b1-9c86-ba5fef0bf8a2 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:276caf49-7f51-4f78-bb50-882a2280375f phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1f1d025a-6065-4c91-b354-6195aed4d1e4 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:4a287322-1773-410a-8959-17e1fafefe88 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:df01df17-3a8f-4923-bbb2-8b1841aff671 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d49bf5b9-26aa-4875-8a53-7233433d57cc phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:f52393af-2a01-414d-9d1c-99a02622f49b phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e3143f05-1221-4e65-8530-c1db0811e79a phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d99d1893-caff-4318-a915-ec5e9f0be076 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:27185fb4-e59a-4547-8897-2e8af1eda8d7 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:03ffdd09-1c0c-4d46-bbea-286c010a666d phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e02c9469-e5d0-4de1-be9a-981316562994 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:345b2fa4-47b5-45a5-8bda-b78441743d52 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:003c85a4-cf85-48db-b61d-e29a845c37c4 phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:1a2f8a7e-0dab-4cf9-84ca-2fc7cb743e2a phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:2294fc66-ab83-43f1-b8d4-e55bb0997f36 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:9bf3e00d-6af0-461f-ac0b-6cf825d3b4ee phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:a5158e0d-6880-4a6d-b8d1-8b20ec48d0ac phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:6feed128-97db-4b33-a687-26d8f692c8c2 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:be592633-0baa-472c-908b-5b864ac14eb2 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b062e717-c4ba-48c0-a992-0b9959fccbcb phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:140b4ec0-a5ee-4b82-a2b0-e052b2d21557 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:015739bb-b3e9-41ac-8dd3-d1fecf110f84 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9f6cc4cc-bad3-4017-88bd-a4c58d90356c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b70a4869-a387-4754-b512-596e7744acc3 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c7cdc4dd-ba7a-4f13-8ad8-abe49969681c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:528d1679-2fb3-46af-8218-c6c2922cf46c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0209da65-c457-4e25-805c-59b9eed7357b phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2adab2cf-a0a5-4b94-95ca-39a8e716ed3f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d147bb08-b3d7-44b4-a9de-69287f1a6c4c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10580070 uuid:c5e55839-bc30-4ef9-ad6f-c8cc73e240a3 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:fdbf4937-413d-4ade-bce6-29869bc6768d phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:37843397 uuid:9ce5bb78-7673-4132-892d-3bb45744daaa phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6e15d75f-75af-4d96-8c18-cabfc4a32b66 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b15b39dc-eb62-42e2-90e7-329f5fb95418 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c3006a17-dbb7-41d4-9265-24fc594a8602 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a7e8c4ea-29f1-4ab4-a387-7ba301e0c454 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:203f3258-e5ec-42f1-b5d6-8f4695026b26 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6268e21b-de5c-41c8-987d-0ec866051987 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c724a128-e9e2-43a0-b829-7eaade0f6ebd phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:30f2650e-8a07-4d02-88f3-ea02c817bfc4 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b760a689-8c82-4585-a2bf-dd532718e4a6 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a63b5b21-a670-4b59-8abf-68fa0c02e718 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e05993fe-6357-4ea2-8386-b9c00218ba12 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7d2c3ef9-139f-452d-8214-522bebe39d70 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:44438bc2-f472-4586-926b-4bef8d9465e6 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1804692c-d4df-4579-ae00-55fc63a56e50 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7191b536-c86b-48e3-8637-a5fc4474e283 phenopacket.store:LMNA.PMID_37843397_TR21 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ef674057-93bb-4e1b-ab43-e34bf8a08d68 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b7b40b51-fc91-42a3-89b3-a3e4278d7c59 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:364dd3ef-de00-4941-a6d6-a510878043d9 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7fac9164-0eef-46f7-8259-7d51887b3bbb phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:670b79dd-84af-493a-bdaa-9094f3f8950f phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4c768045-bc09-4b67-a7dc-b9240f6c3cba phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:190fe2d1-0e5c-4a4a-9a60-27588b3c3b22 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d1e86ad4-d75e-4e2b-9f49-ae9a3d333f2b phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7bd67258-30d9-43b0-8a00-bde29097d771 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7e10922c-9e2f-4e6b-aef8-66868edbe964 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8f0b851b-cc40-48e2-ae63-089615980257 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d340b2c3-b854-4d95-9f5e-9da399422678 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:48a2316a-7e9d-45f4-8569-631dbbda90a1 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cc962e53-37f1-48cd-8f5c-a26e4cd44f91 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:49b3c95a-ddf4-41f0-abc1-5bf2c5b1886a phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8722737f-3265-41c3-840e-9af3cdbfb623 phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8f0018c0-5332-4ba7-83f8-c5e65dba7ff2 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:3974417d-4845-4393-8801-5cf574141afa phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:3fa8b7df-4bff-47d8-85da-2dfdb26bec13 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:c446b36e-0972-445c-88b3-bf723a169eea phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0001952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:784baba5-1250-4093-b387-97d15a1828d9 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:44699d2f-5cf5-4c4f-b52a-72b33b65ae7f phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:7cf4a8a8-cd69-4b16-a06b-2e29450c2ab8 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:e151efa5-d655-4453-a66e-b1799b8cd27b phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:2ea3581b-bbe9-4bfe-895b-8cc650f264ac phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:b5e3b5ae-0405-4ae6-9f6e-3836a2ed062e phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:86415f9d-6cea-4d75-80a2-88f96fe65f35 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:be0706a6-e3b0-49f0-8705-b6f66524457c phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:a06b2314-aefe-4054-b203-43dabe2138c8 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:103efd82-1a2e-4adc-ad9b-bca827cbc89f phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:882e624a-5ab5-44e1-b645-b3a0dd60130e phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:1bc99167-5bbc-4ead-94e2-6096b0d27fb2 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:8dd0c61b-d9ce-48d5-b40c-20037f0d40e6 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:9287584c-16f1-4217-b8ec-5700e35d0a89 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:4576cd1f-3845-4c6e-afb9-8841722e0a20 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:2c88d47b-6f44-45e8-a05c-3e8f78d5bf74 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:bbfb9594-e53f-4b2e-949d-4a7a5ae87aaa phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b8ba21ab-4c46-442e-9694-95e23441154e phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:aebfc7ce-4079-41de-9dd6-690a01502207 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:93dafc4c-d195-4aa7-9de8-cd1663f4b5a5 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:41d01293-04da-41cd-aae2-1c2f2e509779 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:964c0b6d-46ea-4275-80a9-98597cec81aa phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:271f29d4-b8d8-4e41-9436-41a46162bf5b phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c589274b-3490-4d3a-940d-e196cf07fa41 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:cf68d713-12e9-49ac-ace7-7e73a8ec3fc0 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b443eea5-f2f6-4b69-bf8c-1c6883e9285b phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:e59eb60c-70f5-4f5d-8d21-e7bfdb3b41a1 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:31acb098-2781-4099-9526-f1e43c290ec9 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_phenotype HP:0012592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:e27770fd-e5c4-480f-bb2b-6c7b4e4bef10 phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:37303127 uuid:4da9529f-25c6-42bd-a54f-c45319e041fc phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37303127 uuid:da62ae6d-9ad3-49e5-b08e-95935b77bf2b phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:1e476fba-d073-4801-bf52-50c8ef34ed50 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0cddcafe-73d1-4246-831d-b9452c2ed7ac phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ea2aa12d-4ae8-478c-8ef2-c8a36c2ea776 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:29ce8635-498f-4b83-a7ea-9a4b3b3054d7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:cbaacdde-5239-4784-80ff-84b986557319 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f7b3eb8e-b4b1-43f5-9eb8-cf0ce8fff213 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4b15a87e-08f8-4626-a1da-c1d6e6ae309f phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ca10f85d-6852-40f1-b1af-0da1bfea4dbf phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3af3d630-325e-4aad-b552-ae9f1628db84 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b21bd0fc-21db-4f34-bf30-9f9e66f93ea4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0a02c836-baac-4e7f-a93f-da378bfd1a08 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f3c7ac91-3346-4db9-8a7e-80707e115011 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3e7dabd9-2cb9-42a1-8aee-6816aa36d26f phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:70a7092c-6c0c-4afa-8571-b716961b1f90 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e049b87f-97b3-4e44-af3b-63e5bd469676 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b81b2024-412f-42f5-999b-6f8de0269b8b phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b21ce9a7-c958-4dcd-83a8-566aa4cfc3eb phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e1c83c4f-b52d-41ec-b1e3-9c1233167250 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:db8baac0-9b76-479a-ba01-29b39aa52066 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ef36e556-0fd7-4781-9e6d-db414c46dfd4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:37df415d-7bd0-4d3d-a662-31522fcb1f4b phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2a59d1d4-991c-4e4d-a252-40bd87bbc77c phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:be46dcb4-4088-4c5f-863a-cede4a3f1620 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bf301f3d-692d-451d-9542-d9284bb2a87f phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:96fbf5ea-f0a9-4dcb-a029-56cdc85c18d4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f2e089bf-1dd4-49d0-b080-2cda91f4ffe1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bbbb9770-bfbc-4b22-9973-69d268393294 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3d42618c-31c0-4f50-a255-6f7035771054 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:de662b7d-e100-4b1f-b466-ebeffdaeb74a phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:994b577a-fee8-4a75-bb68-dcb957ae0120 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cc2a2cc4-24f3-42d9-bb0c-f0608b81e596 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c9bf57be-c2c0-43bf-825c-d901d8261b52 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:07f871a4-bcc1-4666-b3f3-8bb245d9ec81 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:84f2131e-ce44-41bc-a97d-d3d7bbdeb409 phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:88ea929d-5e19-458f-847b-0c75cc984f24 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:37843397 uuid:16525e3f-91d9-4981-a644-8c05f42c1eab phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e13f04aa-7d71-4162-be40-767d4e73e912 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:548f026c-d1e5-48d8-b9b3-9671b21f76d0 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8ad20107-682e-41f3-ba0a-9f69ef3366b3 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ac3a39e5-f269-42e1-bcab-91c264be9176 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:83de88e0-68d3-4107-8f35-42f76fea1a9e phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bd9ff42f-0b02-403a-a5f6-4936ac80e6e8 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2ea29877-3c26-4883-9e47-565f67cc13b0 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c0565720-208b-4e59-8d5c-e4139be879c3 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a4ca450c-94c1-4369-a497-624cdee0cb43 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9b4e9c40-301f-4b03-b768-08ee177714c5 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:de6b952d-bc17-4cd7-a664-947d95829a3f phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d6af1aff-b22d-4c65-899e-3a7e1eb3184b phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7bc280a5-4cb6-4eb3-990b-423fcd533770 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c2d341f5-f18e-40b2-95c5-7a4938454a65 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7e0ba78e-355d-41e6-af68-294df5e0168a phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6bdd1b90-296a-4d07-baf3-b0ffa94dabc5 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:a013cbd6-7945-4d2b-bb48-000bb7abe14f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:bcd840d4-e89e-458a-a444-54d10aa16aed phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b4e2b189-bdbf-4718-ada7-90e8c90efed9 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ac3c69ab-52b5-4e69-b67f-23635087bbad phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:91670bd7-cbc1-4c10-aca9-bf477048c63e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:bb7559a2-246a-412e-94cf-de0c983cbcfd phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f0203e26-e8ba-4611-a515-5fd8fb39b4b8 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b4de8021-0c5b-4ec6-83cf-d6ff218fc318 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ce2e40f8-5a52-49bc-9b51-e37bdda49169 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5a75fae0-6d48-4de7-95c5-05af8b319e08 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:04274a83-66f4-4fed-a781-a2b7fab37270 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ad787688-8315-4e7f-8e78-b7b076ad924e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:96acceb1-d476-46c1-ad24-327c574c3f25 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:91f5ce28-c82d-4a99-987f-53fde05c4fb1 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e3e3a455-4489-49a0-9486-b9fea7b5dc23 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:10580070 uuid:f174311d-edaf-4333-beba-f7f9d47c4850 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:d91c0a2e-8488-4d1e-a807-1754ac2231ba phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:962ba121-b337-465b-81b4-636f51b92965 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:60ef0451-2421-45f8-a0fb-61beb5b2539a phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:8ea73334-fd86-4d68-8589-229ccc16deea phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:18639ec0-d20f-406b-a311-bf9be69107cf phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:5dd5d347-8f8f-44c3-8d6c-567c56bd5774 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:6f6f060e-5857-4ef2-9a6a-5bf5c57a9ca0 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:551aced3-93be-4ed2-9464-34dad1193b14 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0011711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:c1d396c3-5633-49a0-a8a7-95c5ecdf0d94 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:033ce5f5-166d-442e-9d9a-7ff83ea282c8 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:c9db5b41-b2ef-47ee-b65c-17480ea12d9c phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:13405215-70e1-4eab-8f95-e9f367ded79d phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:43d8ba43-1d37-474d-b361-d978840384c4 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:24513818-7e3d-4025-926c-36488d4bade0 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e9b36871-5892-429b-9154-3d69d5b8e213 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:b6d46d8b-f74d-4b3c-8cb4-b4af0e40b748 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:29fc8d3a-2ecf-4982-80c2-0bf9433ab035 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:8b2ba027-7b34-4912-9a5a-3617267d3388 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:fb70be07-cf63-4f7b-8ca1-21b4d57d882e phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_phenotype HP:0032234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:313d3451-6b42-4a82-a8e9-a32f262348a2 phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10662742 uuid:d3ff1488-2939-4968-86b1-d26b24533b6a phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10662742 uuid:8d51fc3f-aa27-4528-a56a-ddc726f992cf phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:37843397 uuid:83e28005-af99-4719-ac04-9972409f3ac5 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:37843397 uuid:384c1e53-1bf3-4972-bd7c-b5117c0eab23 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1576ffcf-18a4-4e4a-b7d8-bed0ded0a1f9 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8a4fdcab-c624-45fb-82f7-0484ceeecc19 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f2bcb805-10ea-4f5e-9d84-939ee0bff216 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4cb3d06a-aafe-4fb3-8a29-b9a86c342092 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d8a8e843-3469-43fd-a45a-a3665ff47e9b phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:90816432-5fb6-4b98-9001-ad01e8ae3df8 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c52b097b-8834-4f4e-83bf-416f8d81423c phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:014f3692-7413-4c25-b018-7b912fd49eea phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5b59e47a-a6a7-43ae-8a3d-7350aba632b3 phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fa70a6a7-c833-40e4-af3f-dc16794cb97e phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:744c91c5-65bc-4086-bb7e-9ad33ef4bfcd phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:db8d72fc-f73b-4f4f-91df-a0bdaa83755e phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2f3535ee-0643-4917-b07c-1fed66fb2cbe phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bab95417-3144-41a6-a778-6242f769610b phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ddd5fb3f-b99f-4557-8ded-c1168b3b15ff phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:05dc19f9-b3c5-491c-9967-9d19d7d23343 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:37843397 uuid:0fbb9e35-1a9e-4b03-a26b-e28757b6e33b phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e3f23219-80e3-4cb7-929f-59c353750a38 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:eba15b68-aea8-47b8-8c08-4bdc31def058 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e23fed08-0732-47a3-b5a9-65886b5e3a36 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:174d1326-7c1a-4e45-bb4c-9beb20069077 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6b384ffb-a326-4de7-ba51-2f7c0bb6b2f9 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9cf9fbe9-bc28-4344-bdf2-c1f77927b303 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9675df36-c358-40c2-a204-4681dd42a6ea phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4eb77fd1-5b08-4019-87b4-fb2492834698 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:74b2f2c5-a7ec-43d0-aa73-4915380c93c3 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:28c1c1ca-dbf8-4096-beff-4bea4b87360a phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3098c3ac-b357-49c6-84a5-acaffaa0eca8 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3463d9f2-14dd-437d-96fb-0a9377e24b0d phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c543b6e5-c2f0-4803-9b1c-05e03c8c1dd3 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bf7d0994-325b-4ead-82d2-832f228c14bc phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5a7bcd32-77b6-48d4-a2f5-cbf7ca949f34 phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6804f0b4-3966-49b6-ab43-5d735cb022bc phenopacket.store:LMNA.PMID_37843397_TR3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d4c3bed4-ea3b-489c-ac7d-624a8300902d phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:ebf356b1-94ff-4e62-865e-3a602c94875c phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:0a64e38c-6941-4dac-b716-e782056c193b phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f8f8b977-0171-4405-81f8-4e03d8cacabc phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:278a170b-c34b-45e8-a328-ae4aff233838 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b1f0a196-dda8-4cdc-84b1-3d939b0353cd phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:efabed29-bc39-46f6-a29a-bf989da60022 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:e4428ff9-e1db-49d2-967d-ddf6a63161bc phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:4ab2eb56-6aec-470f-8288-167a7c5aff28 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:cd5db875-933c-418d-92d4-7fe3213bd737 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:0a8f69c8-6817-410d-abd4-1ce21153cca9 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:091b0494-25cf-4053-ba0c-ade4c55308b9 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:57479180-0e63-44f7-a564-98fc0d4f9a1c phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:65879b13-a5d1-4d82-a4e3-ff70d5665163 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:66384cf3-7bce-4138-b27c-db47c3d61e04 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:78e4a1c5-8eaf-4819-8361-f1c6ac6a682d phenopacket.store:LMNA.PMID_18551513_10 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:18551513 uuid:63513fde-c3b6-4d5d-ab38-fa9834313bf8 phenopacket.store:LMNA.PMID_18551513_10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:c1afc32a-e0cc-4d7e-89ae-01935c8a7b8a phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:37843397 uuid:9afdd271-a6ef-49d5-94bf-968dbdc94482 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:403741ce-48eb-401c-8f98-d95cc54dcd6b phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:af726c13-90bc-4d30-a9a3-69603a5d5b20 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b6e88422-2531-4fc4-a987-1858d608458a phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:15ef20d0-7f69-45e9-b190-98f17526cd24 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d53c9299-ea0b-41fe-afe6-938c37917b80 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e2e8b5af-9bbd-4ea3-9af7-904d80326df4 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:438b1867-f291-4f28-a6ec-e36f2770e412 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:25cc1188-f0e2-4d41-a47f-37f866241da2 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cad4db0e-5726-47f3-9cff-b536d2dfe13c phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:65940490-321e-48de-8e9a-78e266d252bb phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bcb73318-ae4e-4f3a-9040-705771551473 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0507da94-3ff2-4c33-9ca1-07b9ad705024 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ad5c0e51-aa7e-4d3f-847b-6f7a69d1d3e9 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:883b5114-446f-404f-bee7-61e0cc18ab89 phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8a907737-273e-4ec0-988a-3f2554af312c phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9bb06195-3569-4d89-b90b-6b278c5ce57c phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:793b7f0c-963d-412c-9570-335718be6c6e phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:37843397 uuid:eefcc76a-eaae-4c43-b3f9-0438fd70f4d5 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d812d04d-d55a-4d63-9df3-d5835c26134b phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:16d101f9-b0ff-424d-91b9-0687fb8e32d0 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:85a7f2de-335a-4bb1-b904-d13655e1e0b7 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:11dd7cd1-1365-49f6-8589-8b63d380a285 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1334732e-5b55-47b9-b032-4537a7d5e4d4 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:71accedc-6c4c-482b-bc40-1ad70ff43e99 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:dfed0a9c-21d7-4941-b4c4-7eb2829f2a01 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:40f0440d-3eac-4ef5-9aa1-ec4b4c80adb6 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:db8ab71d-016b-42f1-a0d4-e7c555eee214 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ff3af517-2365-42f5-96d9-9ad2f6b64d02 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:77edbfe6-d721-4820-9d77-5eddd5a8644c phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fcb9e806-eb24-46c4-9b33-3d1f6a8d782e phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6851f85b-06b2-48e2-a765-96fa4d6bf817 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c990ad94-630a-4117-ba89-7e6688717fc1 phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b6c64e99-bfe0-47fd-8fba-ae49c7751e1d phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c763031b-b5aa-4d59-8ab2-b3f21367f72c phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:21af584f-cee1-4384-bcd3-4a6520c38062 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:37843397 uuid:ee4f0eb5-3710-41d5-b0c0-cf4f5f273d9a phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f18464a1-4eea-4598-92f3-e32f43566446 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6334fa68-5053-482a-965b-ef27ca58014c phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:481f8e53-2ebc-4a89-bf61-98a27c0d5ace phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:06cce415-62d5-4d3f-8874-c25de012c081 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7481ee64-bb62-48c4-91ec-0c8cb5f5b2cb phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:07c352bc-568a-4234-a539-3a6c5dd8ca19 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b24894c5-0ceb-481f-a41f-0bd4173cc0aa phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d76770d4-5911-4424-8c7b-3973b06c31be phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e0928648-29af-4224-88f3-21fdbab3ce43 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4d25613d-5485-4626-8706-94ac30cc8021 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d5043b2d-5532-475b-b5a3-fea1fbb98df0 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:55621813-77a5-42f5-865b-5341093b88bf phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:dbd9769c-2a55-4f73-afed-9ef3543e4312 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8cc3dd81-2d71-49a9-80e9-b6b1c5556fbe phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1e86b58f-0380-478e-ac6a-51b07fbe99a6 phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:41588d84-a57c-40fd-96b3-a993d0a509df phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:eb6d0422-e6c5-4391-a022-2d1416a2f846 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a366c4a9-f7e1-4df7-ab0d-f4b196f59f5b phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2930eeca-554f-4f6c-967c-a977b8818cb7 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:32c75954-0a7e-442a-b25b-c4fa5c1ba4a8 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:274b40ad-8fb6-4a62-b562-fe93d7486aed phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8e7a5aed-5e3d-4ef7-88b3-1e522aa738dc phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fe2885f9-b69e-496c-a558-083f3a2582b9 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:29d59f8e-a542-4b34-9f70-01e3d9b546cd phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:61a77d7f-bca1-4542-9968-935a07fd2576 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a2693e8a-726e-4fde-864b-0738428d4d99 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2ba9296f-3a6c-4acd-b9c6-da3e04a69443 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b486499c-4a47-4d11-bfa3-90ebad7695f3 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bf312039-8c00-48bd-9c83-b363f15743c3 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d4c38e60-82dd-4b50-95f8-df985c225e51 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b08ff1ac-8f9a-4057-b41c-f2524eaf96ff phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:76c1f29f-decf-4d30-a22c-adeb0912e9b3 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:808215d2-0de2-4bf0-9313-edf3ca0b640e phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9d2c6bd0-ec59-4006-9751-8d29e2e59bd9 phenopacket.store:LMNA.PMID_37843397_TR23 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:daf29a5a-df4b-4c48-89c4-e7a1519688ea phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:37843397 uuid:5033ead5-504e-41d9-a551-187da3d67cd9 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:012b47c1-2bb4-48a6-aa04-f11efdb0fede phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8efd9fe0-87f1-4fb6-87c8-5d65a96b3b8b phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b8c59346-adeb-41c7-8b7e-8000a5dd437b phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e9599a2d-c7ab-41ba-a3db-76ab0c62b267 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dcd0e066-63f5-4910-a300-d8065bb49e4b phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a3de65a6-162b-40b3-a446-39e535f153d1 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3acc0531-6d0b-4000-a0b9-218694b73bfb phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6eb7706b-491a-454a-977d-29182759ac65 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0acc1e00-fd26-459f-acc7-2712e87d6a8e phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:771204ee-16c3-44a3-9e85-b3189c024bf0 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:09dd029b-c752-486c-a44c-d5a7c519b7e7 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5b4d7be6-063d-4560-b758-8e02979dc3df phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:04d3af23-2100-4c8e-81f6-df4932c220f5 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:785914a6-ca75-49c7-a938-d257197194d3 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bd6a3a76-9d4d-4cad-aac6-8ab8d8736d73 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3961e5d8-3804-4e69-9daf-69b91de448f0 phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:22ade56e-59d5-4e59-8037-2c025aca946f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P78Y infores:phenopacket-store PMID:12920062 uuid:74474442-19fc-4d05-a981-e1778e201fa8 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:e014bfb1-5f0f-4d5f-9b56-30e88700e195 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:081eeeb2-707c-451c-a523-7f0f201cd7b3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:67d0c6da-c5dc-44f8-a365-5739385f4f9c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:55aa885a-8929-4558-a2a9-642242d384de phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:de339087-2ba7-4c03-a35c-89236240a47d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:ee34e222-f56b-48cc-bf18-d3e697c21a0b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fd8057aa-c6c8-46d1-a5ab-635657f1e72b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a952b0be-fd69-4776-883b-072f976158d9 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7fc539e3-85f8-46f8-a911-66286124a592 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9dea0fec-7a95-45bb-acb4-e94f1e36a8e9 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d345399a-8b16-4ccc-8c2d-5a7e99535984 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:418e5e60-1609-4a88-81d7-0b04243e86fc phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:890449ee-0401-4e07-a788-291c809ef05b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ef075181-22a2-4655-943a-801a8e26563c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ef47a64c-7a0f-42f4-aebc-56a6dec85a53 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:92db1119-fc7a-42c9-9376-6ef637f03b31 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7896dca3-444c-48eb-8904-767e55b4534a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:b71897b9-0105-48d7-9c72-4134e87a11ab phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:858017b4-6336-49b5-a3e8-5de9b699c2a8 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f8cf6b0f-f7cf-431a-b1b4-d27aadd54703 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1c6f6ccd-4fd4-42db-9c55-453b3283492c phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2d014139-5eed-49d6-b306-dd2f31039120 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:06d62500-6ff1-482b-924c-6762b64526ff phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e815558e-c89d-4d91-b92f-0ba24e0205d8 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:61f07369-08ee-4539-a200-a929e01dd047 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b389c766-15fe-4f90-b245-7d50630fb6eb phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:270f6373-1018-4d8c-bd21-5b571a61ea5f phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:01a47376-4dcb-475c-95a0-92a839d995d8 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bb667492-d4c9-45e4-b85f-c3772b3eeb41 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f31b751c-ba62-428a-859a-f7037020ce37 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e6e1c17f-4ebd-44a1-b7b0-bd4b9f1318e1 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b1321a54-4d44-40f0-a4e3-811067105de1 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f025673b-a61c-49f4-a437-ea9e98cf6c0b phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a4323664-a7ec-4091-9a88-663ee39589d8 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2342af9c-fae7-472e-87f3-77faac9a9e12 phenopacket.store:LMNA.PMID_37843397_TR14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:691a18fb-4115-48f7-993e-05632d6cde94 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:530b133e-e44f-48a5-8eba-3619e9cad250 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e05356d0-22d1-4229-adb8-88db004771b3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9883c8d2-6f06-4867-a47e-8426b7f082ea phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:59f3ab9b-27a7-40c7-ab99-12d2866678ac phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:839d2ea8-5cac-46df-8641-25b3aafb04b3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a9bb19da-88e4-4de5-bfff-34eaf995429a phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ce5a7501-1e91-4885-a563-1771c7eeb3cb phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1241aa7e-5313-4bd3-a211-229e7fda96d8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5eec25ca-6ad4-4a5a-aa0c-c76cffec2d63 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7b368472-c80d-47da-89e7-cc605a82b554 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f784de19-72a0-4df2-baef-0c2d186c0a7b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e4321848-2a64-40d6-8de4-b11259ca0022 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fc434dd4-7c2e-4713-a225-9423a79c18a8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9a774e3a-c618-4164-a862-2d53d4cad03d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ca6216db-7813-477f-9317-61014366d8d9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ea0056c1-1b19-4b11-a604-1c1ff5056487 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2d298058-5bd3-4f75-8ff0-de64d70e2ad8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:20107f4e-6664-4dc0-989c-716a97d95b22 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:eed979b1-4aff-4a2c-a640-2ab7ffcc9bfa phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:21d3b8c0-fd60-4469-badd-bc98ef8d9a80 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:28874105-06df-4553-8b93-7faa04e4e338 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d8cf998e-e754-454b-80e9-0202b05de477 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a6ee19f6-14eb-422f-bcaf-606ed3545fe7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c03102fb-5f1f-4040-8139-c1a4dae57b1f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a86903dd-394b-4c60-9290-a563ac7827ef phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9460b2af-b45c-48cc-9b9a-a0dc496320d0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:46be29d5-3575-4d7c-a3a5-04a40ec60303 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1d95aecd-6fdc-419a-b23b-d2a8e3f2f10c phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:38e69a41-8942-471b-95fa-f785ef604b1b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7874b6a0-9f39-42b3-bbe6-ff8ddf1d99dc phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:10939567 uuid:ba5d0e42-31a1-4a72-8daa-0aa91b2e5c84 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:ce275aeb-b04c-488a-b51a-c05ffcf39c3e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:3dec0679-5291-42b5-8147-4354846405e3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:b43afae7-d196-4148-b02d-c46b7f9a9434 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:8704cafe-5379-4664-97a9-e885c3d0792d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:6a86e467-5024-4540-b9c4-2a22340c1b90 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:beb0e27d-e17d-4385-a320-330cbd89c3f2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:7afa9be8-2e66-4201-ba0c-b76b028a0f16 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:13d5024d-a4ef-421f-9bb0-bcc774b6a49e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6e65e91f-9419-4a9e-8b4f-32dbe423c024 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8162b35a-3295-4d0e-ae09-66b4043d7ab2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:b80afd59-8d22-4711-86d2-77379430d7b2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:13870fe2-0b1c-43b2-94da-40d80f81bc49 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5c6c86b4-423c-4579-827f-91a66571ceaf phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:3c4f6395-6a14-4cc0-855c-6433ee288ad4 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:b740328b-e1a2-4f48-8e8e-ae8ca8daea6d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1edbbc5b-8c26-4476-b525-61aa4c82f8a5 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dac7c8f2-4236-4223-8b1e-9a7e77bc4218 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dc79bbb2-74d1-425f-ab92-3d1b325b8d1e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d5079a44-83d4-4f9f-a1ed-0951a202819c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:e944a2b6-1362-4ab8-bd94-d0cd61021f13 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:52c9a073-cf29-42ed-88a2-5415a6395d7b phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f3429d8d-1750-48cc-9733-cae666889be3 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f5c0a1a0-5aa2-4eec-8f04-68ea680d6fc2 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1188b3f2-0c1b-4de4-8c58-27c5dfe900e0 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ba07227b-563e-4367-9aef-587b155247f1 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dd2f5992-64b3-477c-865d-01a19beaa2a9 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:18d72563-f329-4043-9bcd-f7ca05bb287f phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f61593aa-c4ba-4743-b793-38890a77caa3 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:945c0900-167c-43a5-b743-a42c8fe96689 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f8fca2a3-33bf-4cb0-92a8-28dcfeeda3e0 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:606f6365-d2a9-4c99-b932-a1c0b5a97ff0 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:117ed71a-453c-4df4-8999-2da62d846ff8 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:585639b0-8e07-4958-8d6b-e841081ac6f3 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ba334d51-269a-44af-bd21-084e89083955 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:42488c8b-c533-426a-80a7-c078b1f3b562 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c4c5956b-f0a1-4f88-b262-62e7c9f69f27 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6daa829d-4162-4509-bf69-41381e4ee731 phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3f9e2670-e956-4c53-ae29-95fe033cc2ba phenopacket.store:LMNA.PMID_37843397_TR26 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c00d258e-de69-4315-a4ac-0dd160ee43f8 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:21158272-2c35-443f-b7d6-7905ecee07d4 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:528d619d-fc10-4c9b-af48-ded3754cf247 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:de4f8946-789e-4d3a-95b4-38ea7f5b3893 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b6ab36e3-af40-4c1f-88d7-533e4cb9ab6d phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5f867e30-964a-423a-9d60-0f0d04845b2d phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:edfb5683-5e6c-4d9a-ae0e-a3a1c87c3421 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a0932a3d-5fa2-4ce3-a760-25e0d44f4622 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0cc995d0-7215-4fe9-b6f5-6dfee1919d35 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:866af068-89cd-43fe-b4ec-b7a1d948bb6d phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bcaee0d8-122b-478f-a7d2-07cbd304a79d phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9102ca71-be0a-42c8-ac43-4755c4b78a5a phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d2b09682-db40-4c39-ada7-0623f6ed8cf8 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:777b4a07-d6cb-4658-920f-d8fd36a01088 phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8537d848-de6b-453e-acde-afda4a120f4c phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6f32a71a-18ea-4de7-859f-94770101501d phenopacket.store:LMNA.PMID_37843397_TR9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2e458675-7b5a-4b26-b63f-8c7b1a8584fa phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:78190062-68d8-42ab-a8a5-1a9351c7557a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ccc4cbe9-8cd0-4a45-bada-0013f29b7194 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:d2f21b13-90e7-40c5-86bb-3834648fcc35 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:a23800d2-1909-4671-a414-0d9a7ef11a5d phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c848a4b3-2026-47a3-903f-91474657abbb phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0dbc8397-cbcf-490d-9346-85678d0caa40 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b15f8d57-4eba-48a1-8fda-07116c19b844 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e8fb039b-c62d-4be2-83c3-4f9937b4eaf1 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:97d579ad-2267-4752-aabf-84540ec878d5 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:21f88de3-af31-4da4-b5da-97d1d88dc236 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4bd10636-59cd-4c9d-ba47-ea1000b89c1b phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1b0e5aaa-612b-4909-8c5b-e17616f7a854 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:10580070 uuid:4149a729-723c-4378-9191-bef5203f22bd phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:617eb1b3-5036-42c5-8ddb-4c4b1326e462 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:37843397 uuid:cce2e88b-38aa-4b8a-bd81-b354a55e725d phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:248e06ce-1bbe-40a9-83f1-4e68e99782bf phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:27e1c6c8-9023-47d4-924b-24596a6499f8 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8d3b333a-680a-45af-9368-f0b3288a5b93 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b850d619-610a-40f7-abc5-a93a742f329c phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e433568f-b264-4f40-acb0-88d51590ef83 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5c5897af-71c6-4bc6-b2fb-0ce5218e0629 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:facc37db-533d-4532-bf43-e004f205c49c phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d413bfee-da35-42e8-b868-9666d63dd962 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:03a24f20-f5fc-4936-9d4e-562645b38d09 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4d21ef48-a626-4225-9963-d45d49ecbbf3 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ce3d95c1-b59b-49c7-9e5c-56ea68f39748 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:109059b8-5748-4d2c-add0-2ffc4d365ca1 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:624aa4f8-b154-4a76-a304-dba3d9ef9e10 phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c265aa41-1134-4a53-9715-8e2227270acf phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7a4d5d40-c818-4186-9144-900eb671730c phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2032c865-8f0f-4112-b889-0353f5653f3c phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:5ede6e74-bd0b-403f-bf04-5b3c5edda57c phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:37843397 uuid:798ba512-71c9-4d48-9bc9-5136172acc97 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ebe2a1fb-682a-461a-88e9-a053bfd9a1fd phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:50759914-e69d-42b5-aa8f-1a6cfbfd5249 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:aac6a8d4-6a44-48a5-a5f2-1f2cd1873575 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:253c340e-6a3c-44b3-81cd-0f9cc10abc12 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:44026f82-11cd-4ad4-891d-1273f8b7ee69 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d0997e5c-4a8a-4cd3-b598-4bd91e8f3399 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:48416b1e-2f8f-494e-9e6e-c3fa500dc7c9 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cccb1a87-8dda-4d3c-bb42-6c910b46707b phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4231ebaa-31c0-4434-9a0f-fc2e4f5effa8 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:00a9f236-b85b-4bb6-a9fa-719c0cd5d45e phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a09a640b-ef16-46e5-8469-617800872380 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:844c7a8e-5258-43fb-a9f2-ac54fba518f2 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:09d8bcd5-bd50-4dac-9182-34318419ff7e phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8b1f4d00-e8df-494b-92dc-95cd920be65d phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:65047966-da6a-411d-b623-846e7d0358a9 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fd853560-9758-48c2-953e-d99264e89b48 phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c7c5ca4b-70af-4b77-9365-2344ffc21f0f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:3ea34e47-4e18-45e5-aa78-2dde9abff22e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:de232d30-8099-4c2d-9b02-6d38ba9a1e5f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d76ba2b4-74ba-4623-8417-03499333d19f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3cc7bf3f-81e2-44b6-99bd-412d1d097707 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e7115a0a-acf5-4ee2-9777-2e473a4ad57c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:66bca790-6162-47dd-8c5c-dea7b8f38393 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:eef5b779-b9f6-45b4-904a-22cee36efdfb phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:703dd29e-21fc-4184-9d37-771c3cac32e1 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b7ffcc50-b95e-4185-834b-e839a3e5986e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2ec064ae-96d8-443c-9cf5-49586cdb287d phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cf939de9-7be4-44cb-8387-7d5197595f3c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:97ef7e88-6003-488c-a851-87f76123595d phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:52155cc8-dd19-4a5c-beef-77d4f6994a76 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:751ed584-8c56-4c5c-82f5-c3e1e99bc362 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a95ba83c-b28d-4162-b1fe-722a37106665 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:10580070 uuid:c74c81b0-4aa4-4d41-bb73-8d0dae005c98 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:d9662f2f-d98e-4e3a-9977-9a0666ccd4f6 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:37843397 uuid:65c2eca9-de31-4727-a4d5-03087b47991a phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e8a8b2ba-356b-4e2d-9d0b-8ed67b22d24b phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:88f643d1-6199-4833-804e-664037a6c4b0 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f59db2dd-a088-4770-8bf4-200258a5acd5 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e6d04ffe-8246-4dbb-aca1-2788aa628b80 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b0acbaf1-dc60-40be-af17-ba8fc1cdbab7 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6f2f99f1-4f31-4faa-9a89-30f76eb8e08d phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fa489ae8-8885-412c-afef-e22b4c7beafc phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7102e313-d54f-4143-a810-1155dff5c004 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b51d4f4a-7a39-4e1c-a660-aa55e6c944ba phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4b554f50-250b-4e98-ae11-05fe7f73e5c4 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ddaf53ab-1360-4c38-85bf-da584ebbe517 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:19b6b481-73b6-4ff2-849a-7ed2434919af phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:643d6cf6-32a5-4d0b-81e0-bdbd3d494b63 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bcc28e96-a5c7-400b-be81-cf72ffa3a4c0 phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:54f46676-dc47-46e1-bb6d-3af9fe90351d phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d4745ebe-d466-4f52-9d70-9026e12b7134 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:4d75df4a-d0f6-4950-98f7-8edeea7c43e5 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:8be103c2-21b3-4c83-bb69-6740ab526696 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:672c5331-46c0-4490-a5fb-9cf950fb4ef0 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2bc09e92-8e58-4a20-b62b-631ea9d648ee phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:49b58283-646e-43ab-b967-9b85832b6f79 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:aa24f349-5151-40a7-8487-3f29ec939ba8 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6d96ac05-d9dc-43bc-a6ea-a5f23441fdb3 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:277d68b4-6064-4f22-b623-33e3ad4ed162 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2be27dac-d7bf-4d55-b9e9-c96afcbd8be8 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cef1ace9-606d-45cd-85b3-6ff82760d9f4 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:750d2fc8-c269-4a93-9c63-e4854161df98 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d01ece18-0695-436f-af29-cb7367368bcc phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:53c8679f-4e4a-43ef-9739-571b1305683f phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cc2130d2-a256-4c9e-9dc9-c618a4ea48b7 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:03dd5053-4b6d-4bf6-b5ef-8d97d3cd74b8 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:10580070 uuid:ee350172-dd18-42eb-a6fa-703df313fbcb phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:94a6b165-4d07-4f89-ba0c-4735b7004fd5 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3dfd73f3-320b-4e79-ae90-6b4b61b575dc phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0bc1bbd7-88cb-4913-ac23-70dadc85ee32 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e6fb9df9-2b53-4727-9e28-83d79758ac34 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2880372a-a6cd-499d-ba48-7d51cfd2f241 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6335165b-fa12-46c6-b371-9b1769a17498 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5caddd82-4cdc-4534-b9ac-2cd0a3b92e6c phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3450220b-9e18-40ca-bb21-d790868cd586 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5867d898-440b-465e-88e3-b1307a9881f6 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7c3eca75-d54f-4139-a574-dd2847135c6d phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:171c395c-5242-40c2-85e1-895ddc2d346f phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:26c4f8f6-5d1a-47ad-9510-a9de2a5657bd phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ece41bd4-d06f-4ea8-b165-5fbf1c4a2f29 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:53753852-fd83-4126-8901-d71b3f6466ec phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:61c6c14d-bca9-424b-b06c-bc9f736bece5 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2aa2ab4f-4fc5-40ec-bdda-8eb18b26b4f1 phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1a5c887a-e5a8-48f2-9470-fa6993a720ec phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1136e8ad-1766-4eb1-8f3a-bcbd94e9389f phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9c2f72c4-d8fc-48b7-8e0d-f41d7e3b889e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:d2421b51-fff4-4be5-97bf-ca1be41597be phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8c640c55-bc22-43f4-823b-f2a8cc207c6d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2a0cc5a8-56be-44d0-9be1-1d9773ec5a7d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d4bf5327-6624-484b-8505-898a6964fc40 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3fbb122a-c1a9-4d9f-8a2f-5ef08eec7d36 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:13126b37-a0c5-4c5f-a718-7b8df012ea44 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1c8da93c-6c82-4d37-9a28-9e213205c800 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c0a5f627-bc05-4071-a0b1-6c0151b39495 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ae631ae4-b035-41ba-8e8c-cf2c3e08486a phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:85ec5285-8da7-4077-b4b0-67668582c4ba phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2c5afdef-8e1c-42d3-9642-3d982c03f2d1 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b627b4b2-c3d4-45cb-880d-aa2ce0266018 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:10580070 uuid:c0bb5d51-dc8a-40ed-9525-2b812dcbfa49 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:86e66ed3-65e4-47ab-be77-af1dd2320542 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:37843397 uuid:282c71da-b934-4e21-a3be-83b2acdbebc4 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ad6674a6-140f-46ad-b190-c05eeb22c165 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d8c923e7-5ef7-4e4e-b591-b1da79b07b26 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c685e472-edda-4d57-bd1c-d05ebffc8d56 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e89f48cc-4969-4a98-bef4-8fff049aebcc phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e11957b7-82c1-4578-a944-e840052d3494 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7f3abdd0-ab47-48c5-aee0-a4e71c25bf04 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6c056fb2-0c1f-469b-9135-a1c1146a9c7f phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c27a10d2-73e5-4aa8-9cd6-445dcb01b4e4 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:48758782-2711-47de-b46a-7ca691be5689 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f06f45ea-f8bf-49a9-9df5-d7e1e20006dd phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:da229764-5fce-4c91-accf-81cf5f23cf08 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f5b8b7d8-27c4-4dde-9353-a81e32189968 phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:acd5aafe-88fc-424f-98ad-fda1f10feefd phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:468cd9b5-35cb-443c-961b-00b545c30a6b phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ce1fc564-842f-4d59-9beb-a7b9d8faddad phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:506789e0-2eda-4e18-9759-5f1845c02722 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bf2458ed-28c2-4f1f-916d-efebdd73a259 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:274d065c-e3fb-45ec-a41b-ae9829a97899 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:82481f20-5ad1-401c-ad0a-1aba4108c0f4 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c4c15821-23ff-43c9-9e3a-e103d8d5717e phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:75fea096-44a4-406b-970c-338d7c704177 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4c8bc0e0-966f-467d-b6c2-e7a924124e8f phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a4b73458-f37d-41c0-9dde-5b55bf80170f phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a334acdc-fcab-4b87-abff-c3c341be64ab phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f54de40a-e15c-4619-8bd3-08da7b86f4df phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:92651be1-831d-4eb0-a05f-2010838ee3a0 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4b5309b4-3754-4b95-9b05-fed5945c36b7 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5ae7b543-7ec5-44cf-8ded-7aba526f54fd phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:54b40e88-c860-47aa-b8dd-b2fc154187e9 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3b9c5bf9-ee48-4919-8652-e172f20915b9 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:cc184dd2-0704-4b1d-8be0-f4b815403417 phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b3319dfb-ebb7-4407-b6dc-79604b1e6d3d phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f4863033-79a4-4de6-a651-5b35867dd9fe phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:274cf92d-e617-4652-a554-7dc9e8967547 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b8e58c97-b234-4ba5-a657-d6c3fe914372 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4e60b58c-7dc0-4306-b5ad-ef9c8aefc5fa phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:74ba5cfa-3da0-4b1e-98f9-39255105272e phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e8aff502-1c2a-4db5-82be-014671084930 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:382c067e-1f49-4fae-b91f-b3a04cf61b2c phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c35b0f77-c30c-4ca0-b1f7-66a4f08a5727 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:75c1167d-d2de-4889-b384-9caec5a460e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:145661fe-128e-4f08-843e-1a2de4e57f26 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:39e0eccd-6573-4eb3-8356-a607bcf739af phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:babaa071-18ab-49b3-bb6e-ab0306fb2e37 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0def4f67-14e3-47a8-b8b3-df0c818740b0 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:69e839e7-1191-473f-9263-6c8fba6e07de phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:94ae110a-e27a-495f-bbca-70d835471820 phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:49ff0538-2c1d-45d9-a539-1dbbd9db49fc phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P67Y infores:phenopacket-store PMID:12920062 uuid:db5ff889-a9ab-4de8-bf1e-1e2a6d1ba140 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:074bf6b4-4a20-499f-8e4f-6669b1a90b4a phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7eaaca6c-4c07-44c9-a507-acab3bc344b5 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7f060429-483d-46bf-a427-fb25b6905c61 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7f7d5655-887a-4b83-b171-4ebc8eb5c480 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:12ecfeaf-ca27-499d-ab50-38a501c7becb phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:64941b4a-d9ba-4ff9-8ea7-28baa43163be phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c5db63fa-c5ae-4a56-a77d-99efccf032ce phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a8424001-894e-41bb-9b0d-61da479bfcab phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:3c13d635-722d-4350-8536-3501aa6ebf29 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:b9deb976-4a60-4eaf-bdd4-8f56c30391b6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:698ba56a-454f-444d-93a2-be8008fc73ad phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9337cb1c-0854-4a46-a2ed-681e30ba7bc4 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:66ad32b0-f16c-4b9b-96e1-d4209243be10 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5f15e906-72b5-431a-a1f7-0c4516787b37 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:edf9b6b1-9a2e-46c1-b561-bc00b83255ca phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d723ea5c-d3ab-4dce-a1fe-0426073944d0 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9690127e-2c06-429d-b27d-2018ce16f2e9 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0b04a570-e4b2-49b0-886f-312b1e691dc4 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:4f5036a6-9ded-4e6e-b62e-ce8d8712325d phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:1f303fbf-698f-4154-8fbf-9f7582ccc538 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:950f23c6-c947-48df-890a-128e74690cff phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:60f91b90-3dba-4701-883b-798ea8f7e4bd phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:16e154f2-ef2e-4519-87b9-677bde24d4db phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:730fca20-9ce4-4f29-a350-915b323c0ce1 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:b3754e98-d604-4fa9-9584-10d5fa003c80 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:e231d853-22d3-4006-bc77-ab46d1412895 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:745ce6ba-dd9b-4508-ac4d-d70d7f57dec6 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:9f2f45a1-746e-4e20-9c21-db52d9181b20 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:70cd7714-f10a-4613-a08c-981bacb908b9 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:38e87e36-13b4-42af-9498-c4da6c8a734b phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:1d5f5913-9d3a-4b51-97d6-7f3aaa84dbc5 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:10d6c3e7-afba-4e58-9b89-17671604bcb6 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:e0bc91ec-445b-41e1-8e69-967e0a42c864 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:4c7e126a-a737-4960-8ec4-cbcb9bf4e814 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:c04005f5-52f5-4acf-bc82-dc3c3cabfc10 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0012592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:25217e9a-987f-419d-ae27-5d3f91523e1c phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c254355e-8239-4640-bd40-f3b7fd49ab07 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:fe5fd791-6021-4612-ae43-0626fae465cf phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:816ac66b-591c-4013-b3ce-cea8f6f58315 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c527e661-9524-4b26-bcc2-796ec6fd0b5d phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:9a98e9e7-8802-4cae-973c-f201d879d270 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:f077dc9f-fced-40bd-ad06-7bb3c6e9fc0e phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b9587a7d-55f4-4f6c-b567-9c8a049a15b4 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:052bc35d-7dad-4f75-97b5-fc846ad71426 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:0c76a450-32d2-41b5-896e-f879b5d1ac68 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:7e1e6d50-b391-41e9-9ffe-2904c8a20480 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:563c448a-8af1-41ae-952a-33661a6e3380 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:2f79c2de-e9b9-444d-b6c7-54b19561415a phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:1e50814b-df99-4667-9304-eb597879ff6d phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:37303127 uuid:302d327e-e2a1-4e27-bcf0-f3377dbb8c89 phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37303127 uuid:9d70d095-4104-45a8-8b9f-4017ecef41ca phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:fb077fb6-de87-4b7f-85f7-837ee3f49129 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:46d2a68b-29f5-4e80-9e63-e62aad988bfb phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:392590ec-6dfb-442b-9c81-c62c247e126b phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:71c763d8-4e6a-455c-86a9-dcbf7a855a5e phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5fb43478-eb4d-4706-a011-459863e9a777 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b4f5a8f9-d979-4cb8-85b5-f0d2f60b23c4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c9442261-3230-4f0c-85ca-d8ce48400c8a phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3954c783-dfb9-4bfe-9312-540a0b3495e0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a4d2a17e-27b8-4fa1-aec7-d6858d57641d phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1e91faae-b9f3-4acf-8993-48e86ac52011 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4bcefe33-bda9-46e7-82b6-2bc4a136d4b9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:129d4c38-fae9-4327-8e5d-686cc0c6b191 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9e9eb963-ef19-49f9-bdcd-ce2e7ac39a53 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5e5e8e49-97b3-4998-84de-5257344100e8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4903f01b-2c7d-4c60-957b-f1f4ba62e1b8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0f9b46b7-951f-42a7-9155-89b4dd1ff97e phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1c2e0d9c-b65f-44a0-b7cf-efc7135d807f phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3c962354-7b41-4e60-8759-ab298a872b6d phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d1dc6700-622e-4e31-a52d-8def59cb7529 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:304ef04d-9d76-4b78-8db6-471d419b74d7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:87c2e54d-9778-4357-b207-1ea6575864bb phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:10570617-9d7e-46c4-a2d8-a122cb78a478 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8070257b-517b-4e11-ad67-09d2cd07d29d phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2c4b4da5-899b-4be8-ae1c-2ac66ba23c22 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0b018a9d-5afb-4b07-bf39-0de8d7cc9087 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:43b624a6-968f-4d39-95b4-910589d27466 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c44d7f42-64bf-418e-bad5-106a6d7dba20 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ee0cc147-8429-45ee-8740-2017da85e04a phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:603f14d8-0887-4d17-a192-adfeec69d565 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c5f03b9f-5175-47a0-8fe0-cd5c79c020e0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:afb0286e-5342-47ce-9f7f-ec618678933e phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:079a40ee-d9eb-4a1e-884d-40878bf56008 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:22f8a256-2fa0-4ead-95b8-0b554c1a1061 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:d2d39e90-3ce0-4773-81a0-a364123be647 phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:f8c6d773-b3c4-460e-9fe1-32e59a6b25f7 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c6bc3651-768c-46db-a964-8d8984c5236a phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:fe217b8b-3461-4f58-aabb-3075b013010d phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:55dc5a61-7d74-41b6-ac65-25d1dd4a1bfb phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7a2a4a3f-dfff-4343-9272-4dc5fe351fc1 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:8e755a55-132b-42e6-95c7-b03d3224fe6c phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:39e75a37-d5e8-4bc8-a281-deb036ab4608 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f1e85c84-227c-4d44-80ee-e7cfd7b720a1 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:74916986-3b92-4649-ab07-58242b0de585 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f80e0eae-4d80-4b18-8c44-411d0fd7b400 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:58ef69aa-7e87-44fd-b1e3-d3b846165421 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6343693f-e013-43db-ad94-427ee6de4583 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:236460a8-99ac-4e48-a362-a50178963e45 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:98fa9226-1622-4222-9667-f0d68ab652ab phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0949901a-3615-4d2b-bde3-535707df6a16 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4ecfa178-186c-4d64-97af-0ecdf3b48e6f phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0100546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4cacd12d-734a-4b8c-9858-13de5219bd22 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e221f4cf-e71f-43c7-a53b-75702d6a5a97 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c6c317cc-e917-4720-8105-ed0a331d28f4 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9bf8d9b6-aba8-4d0c-9f0e-75f538de043c phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:f780a008-b85c-41c1-9c38-e00fb672a6c6 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c484e9b9-03df-48f6-b6b7-d6b9c7e89f36 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:65c0a53a-95e7-4313-90a4-0079dcd323eb phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e5573cc6-ea71-4392-a55f-5859eb88a714 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:6e927479-7fc2-4e6e-99fe-7d850f518d53 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:74dac0fc-5f86-4f87-b0ab-371cbd2fe70a phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:124ce86e-9657-43b8-b921-9f28326d1935 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:4f241ba2-3c2b-47cf-837c-ff3a6dcdac96 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9fcc1f50-7eef-4d42-a225-2725dbdc0f13 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:00328d56-3a5b-4d66-b79b-1d6fa9d6ada2 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0e4a8cf3-e41a-4f74-87c4-39033b17f2db phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c01ddfd0-987b-4edb-a4a1-ca8047de8d72 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:975c6c92-cdca-4bda-830a-5d0bae12de62 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:6c07f4b5-d357-4d52-afa7-03d9a86a8527 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:799cbdcd-ac36-4b88-926d-6645930e6055 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8b8cdd2b-05b3-47bf-8bc3-5cf6faa78db1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:645184c5-51da-4a18-a6c3-92279928bb5a phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:15f159b2-bcc0-43e4-92c6-1769c14c3961 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6f6c1e85-c71c-431b-bca2-db0be4058d31 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8466c158-2a3f-43cb-8378-ecab31c42af0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:90def5b4-1a67-4703-87a1-e56986842622 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e56ee5ec-39dc-41b3-8ad2-9102a9fe391e phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0d3fc7c5-4a0b-467c-a191-21625bb20026 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4aa830ac-06d7-4c9a-9372-d9df0e589065 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d2d25760-c8b0-415d-a59e-98ca43d6550f phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2f40744b-8475-49db-8824-8e37a2401151 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3b0c3cf9-0975-4cb0-854d-5eb96c132307 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:26e81776-57c9-4995-a9f2-5d253e9a3987 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f0b4bf20-9483-4a65-8a68-d235247a4214 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6a4b685d-c129-42dd-9a6e-517838bd6593 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4dc7ef4e-4749-4a51-bfd4-85a71e7f03bf phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2ce36960-fe85-4e8a-b840-049ba97d987e phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:38216834-d58c-4130-b8fd-161881a24567 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ecaa0ec7-a2c4-46f9-8d5b-603c4bc83735 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e6096b59-2c27-466f-9522-bd89e47a1c06 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9c09b9ca-6f73-4450-87ee-f6d3589cd676 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:964790f4-6bab-4148-9a4c-d692da477bbf phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8afe7d7a-1bae-4e3c-9396-f8f2d0b62fbf phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:69e88154-ee92-4792-ae95-b6677058d050 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a0469cc0-3c5e-4129-9392-36b5ec23103a phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7d3d0798-49cb-4b23-bf16-f5475efa0a33 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e04507fc-28c8-42b4-a75e-ed858ee3a7df phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b1ad2aa6-59d1-49db-9c4c-b43e8c1fe7a9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e8a057f1-7a8d-4ecd-acc6-c9f56034ae81 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3d6ca41b-c4cd-490a-a1b0-00f6567c9794 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:17da28b1-9677-43e9-bdd2-8ae2206dfda9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ba16184d-7fe4-4195-a4a6-dcd399491890 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:71c65290-5fab-42cd-9792-30d4e621d125 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:7806bf71-bae9-4663-9e65-76f097669385 phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:37843397 uuid:8849db1a-385c-4b8c-8397-0a433bebe42e phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:16989f65-4da6-4a1f-b9d0-1eb5aa86a40b phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f31803fd-2ae4-4ef5-badc-2149703658b3 phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:692530bd-2938-4d85-b00e-140547886ce2 phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3e0d585e-5fb1-48fb-a717-5a52e4e2832c phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3e4ca318-c0a8-40a0-9daa-6a5f07282b5b phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:911b34de-d512-42df-ac2b-e1a0779980f9 phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8cc473c5-f219-451c-9d60-5f97b85539ab phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b1ef8887-5620-4c30-92b9-cd2aa8431ce7 phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d547d421-d164-4699-89eb-b3a036282121 phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8083dc6a-fcf6-48fb-8ce4-bc8f54acc7bf phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:87a5cbc9-eb3f-4f8c-883d-e7edd496a0fa phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9becb8a1-90f4-42c1-8aee-e9f8072bf49a phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bdbc4d57-2638-4482-a2d1-274da4413dcb phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4eba57da-e785-4749-be78-3e412151056c phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:aa441921-87c1-471f-bc45-6e8c56b4020e phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:de1aded6-d329-4637-b056-c941e3d9422d phenopacket.store:LMNA.PMID_37843397_TR11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d2502ae9-236a-4d10-a1f5-04b0fa02eef6 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:a607c528-2063-4a01-a288-41345b435a64 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7f7357e4-ed03-4cff-aa8f-83a92acd285b phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3134d8e6-d06d-45e1-b0ef-113f9da9c8c4 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b3d19b93-ea4e-4ad5-8bf9-6f79624a8d45 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6b801460-1e22-4fee-952c-bc79f8e24852 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b1aa9176-186e-4c81-99a3-21d41ad8fb7b phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:26a110c6-28b3-45e0-9f88-23495e81e98f phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:78531fc6-a0c6-444e-8dc3-73c52b0b48f8 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d5754d0f-4596-4173-aac8-464295b53ea0 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b9b8ed8c-e11d-4ca6-825d-38a36d7bd218 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7dca20fb-724c-47ef-a051-36dce818aadc phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c62af648-499f-41c5-8283-7c2131b5bcd7 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:32fe0a98-6275-414c-8fdc-51f8373ff2d4 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:93faef7a-46e6-4ca4-b403-75ea28b6f0e1 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:10580070 uuid:76f76d7a-ecab-4bda-9e36-3e18fc11035e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:84c30e61-c35b-4a5a-b375-adc180d3c094 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:37843397 uuid:02f19dd1-e49d-41ba-945e-6a9c65ba34c4 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:487c10b6-3cf9-4749-953a-f7b9348df4af phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b3b7a718-7960-434f-9b64-7fe62ab905d5 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b33caca0-fa26-4639-9747-228d34b05f35 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e2c64bcb-6ec9-48bc-8808-0b43340bafac phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:019f0410-17cf-4c1b-b749-1fad9cedcdc8 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:10ec6a80-c60e-4e9c-be7b-3a756a6a15e7 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4f1aed52-6bda-4818-be5c-f16c44db5ea5 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:03110ef3-6502-41eb-85dc-3bda963e2b92 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4ba65fe8-c0b6-4a06-8064-07d3e9c891b4 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:63e5901e-d206-4acd-9308-86ed323cd330 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:251913ad-beb6-445f-8dd0-68d7f4ee6c05 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f63a4678-f4e9-438f-81c5-69ec05b2c5a7 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0672c008-2e49-40be-923a-22d9f28ffa8a phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c9674e10-e46a-42fe-a9c9-191a1f9e5068 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d911c86b-80cb-4aa6-acae-2b59f7dd9276 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:5f3c8f97-467e-4103-b68f-7c2a94ff5533 phenopacket.store:LMNA.PMID_37843397_TR15 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:00a74a57-f9c6-4195-a28a-c6782f8516f0 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4da7dbe8-9450-4457-86ff-2c5695b618ec phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c462c240-9838-46b1-a71f-6b16cde5aa8a phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3f9f3250-c149-4fa7-a7c5-b28f67f345c0 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1c650c30-19f9-43dd-90d7-33d1fe2786cc phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3c7ff517-3b53-40bd-bbd8-ff7a4cf2a666 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0ef6a97c-e2dc-41a2-97b0-d2e98599caa4 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8e4f40c6-342e-4632-bdac-3b6e74b62b1e phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f652a7e5-a96b-4753-b398-abe2380d93af phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1ada5959-1f1b-48e6-b10a-ef189b0c452d phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:685beaca-c74e-4efb-9f3f-ada90f34f1c1 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2fff30cd-37b3-4877-ba50-78d8e7010f91 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ea07afd3-8ccc-4c64-8959-796c9f2032d2 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:87c1c30f-c362-4380-992c-21bce6a865eb phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:75f8089a-1736-47d1-afd1-6fc3f7576def phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:baaa4aaf-e771-4be7-bda9-90748dff79a5 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:81e532f5-fcda-4af0-af45-859a8e4990c2 phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6fd4b506-9c46-4848-9b75-9afe35a227b0 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:c92069b0-69fa-4d63-ab10-8c72fb159cce phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ccccd6aa-35f9-4c49-818d-0abd92fb36ae phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:4c54d433-0cae-4590-a890-6fd4c728e99a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3955cbcd-79f9-4f21-813c-f20b3b8033b6 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f18a54bd-1edc-4a78-9840-eb5abcf285da phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8775614a-e7eb-46fa-a395-f4c1cb20faaf phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2b0a3298-e704-4e69-a078-ec9740263ea3 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3852a330-6a59-4a61-b5dd-912e83a4eced phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6f9ba839-f24f-4dac-bee1-77011bc0b1ee phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:dcf16bc5-8b06-441a-81ca-7b44cc9d34db phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:80833a8a-fe77-4db0-82a9-0a053c6debe0 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:affdf31d-2ce2-435a-b9b7-e7874a685239 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:12ec67dc-967d-47b9-99fd-ba9d6df2c154 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:10580070 uuid:2664e2fd-a87a-496c-9850-d128517fe91e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:9658eca4-5e57-4fa4-811c-6fef0fa82107 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1909fdd5-a874-48ce-b1c6-19348e017ed3 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8760b9d9-89d4-409a-a1f0-a0dfa725f4d4 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:86820d6f-bd3f-4bbc-a020-411bb914fab4 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a86d01e2-a743-465e-ba4b-9fbaf649505a phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a970a9cc-805f-4696-b105-f226bf3baf50 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b3d76ace-6a2c-4968-8e39-a0c9eee17194 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7dcad10a-2e74-4ad7-9580-76eaa53919f6 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f01e8f5f-ec7e-4385-977c-9267daa29e1b phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c5e01562-7057-4d99-9509-25f8a8fe6de6 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4cc9068d-c27c-4efd-afc4-49b411524cb8 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cdac6f51-6ffe-4bee-ab77-185e584786e3 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:aed8ac67-08f6-4b03-9592-c045ea7a7af4 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7bf37351-e566-4514-bea2-e116f435ec00 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ee9ed440-e077-401d-bb17-a5f87ac0ca45 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e586cda5-0058-4bf8-8a90-6430ea193815 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:66af6c4a-ae16-4e19-97bb-ed66c41d615b phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6d890142-d3b0-4011-b528-a4a08f729f54 phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:0f7bf59a-6935-4b19-beb9-ebb92d04b37e phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e0b0a46b-9328-4daa-8573-cfbf635ef319 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e3426451-fab0-48cc-b94a-45bab6381ecc phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:95b5b926-7021-4a74-92d7-966b0a696e2b phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:248048ae-4ed0-4ece-a89c-8ac14f239538 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d1efd613-a133-4ef1-9f8c-d1ab621c131e phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9283de26-1784-4d21-b541-188671001b2a phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4b0ea607-671c-4788-85a6-d539be31cb51 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ff64a1b1-e30b-4476-a308-5f4a319a446d phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:55b481ad-d0ea-48f0-ba3c-38124b341607 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eb8e2070-26d0-4ccf-a7e6-bc02c6e1a0a4 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:da2bd3a6-32fc-4a85-ac95-8a2d2df61177 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fd8ea0e5-9395-41fc-9e03-974ddc366119 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7e2dab5c-3c78-49bb-8a7b-8e07546c8427 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0c0976f9-a74c-479c-8e3f-70b8858c2607 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0ac2022e-2f0f-4469-8c9f-78f9bbcb7a83 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:a705b14d-bfc9-4e96-873d-647b2b3934e9 phenopacket.store:LMNA.PMID_37843397_TR27 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ae68084b-7747-45ca-9a79-0c1d54c961ea phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18551513 uuid:253d8352-c98a-40fb-ac27-12006840200d phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f6c23a97-3cbe-4014-9c4c-aea7a90d6e8c phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:63821228-0e8b-4ff5-a51d-308457cd4445 phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f1e4a825-b01e-4aaa-ad49-1f573b7b3df3 phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:4bd16571-3dde-42dd-8c98-d57603f8d65c phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:23a6c699-9d03-4b50-b0d7-fd4b69eddfdd phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:806eb02c-5afd-4671-8cad-fefc2286b53c phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:c7200d79-384d-4117-9f76-f288cdaf2f93 phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:54aa04eb-5d10-40bf-8d85-0bbcc81fbbea phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:ae6e0a0f-5b31-4bc9-accb-6d849070021d phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:cac4bc0b-1829-4fa7-b922-faf5b34f29fb phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:91286ed5-3f2f-42e1-b692-2abf8d145ade phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:643ed47b-f15f-4dbf-9b73-49abda0d28a5 phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:95846808-463c-43d3-a1c5-abcfd517f19f phenopacket.store:LMNA.PMID_18551513_11 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c3110730-be22-4302-bc46-2cbe85882b00 phenopacket.store:LMNA.PMID_18551513_11 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:18551513 uuid:36e427f4-b4b7-41d6-927d-bc67bea1cc06 phenopacket.store:LMNA.PMID_18551513_11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:98c59176-f925-4dee-9bf1-37727c21e9db phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:37843397 uuid:2e2a9396-5fd1-4f59-84cd-2a9c6df38b08 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f5f42ac2-30dd-4969-a1dc-6dfab6d14176 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a797cae4-34a1-41ed-999e-c429ceb3af05 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cc743cef-ba04-46a5-acb2-444cdeca512e phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:87a002e9-23c6-4591-a401-aebd2b7f5eb8 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f2abbd1b-83fe-4407-bfa5-eab06bcfa61e phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ecad2a3c-1ebf-40d9-ae3e-3fe69d528909 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6484eec9-a18d-4682-8dba-2d92371ca468 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:56fbbca0-e294-4a39-9ce0-cf0666bc9330 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:10030638-4c73-44ae-9993-e63873d1ad45 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e2ae7d01-01ba-4433-b2ed-393aa1be38ce phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:befa5129-2503-41c4-891c-eb549e52199c phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ce49fb1c-9948-44f6-a932-b178d1f88e6e phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1ee858d0-1119-4d90-8140-82b1ddfd16b1 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4e504089-266c-440a-af10-d72e969290a3 phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ff4d665c-105f-4089-915c-7d4fb25cc1cb phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:55a7fc48-6c32-40c9-ab85-5ddc77e4560d phenopacket.store:LMNA.PMID_37843397_TR30 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:56b7c8b8-1375-4a64-9931-02a0247757ad phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:44c37325-0ad1-4a02-9a44-f7b6882ce812 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0011711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:ec9cd0f8-a4ad-4adc-84ef-fb838ddd9062 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:1b551cf1-15d1-4837-9f93-6e1fa3af8def phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:f06cf325-f7a8-47f2-9377-50053a18b5c5 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0032234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:865f6250-e92d-4362-8372-2125fe2c4b09 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:f9d52c25-279a-4634-b339-75eda8f23df8 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:9a35e03c-479a-4f96-96a6-b292f75c337a phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:4f291b57-bb18-453b-8d80-805d09ecceab phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:34752477-a1b5-4b7a-984f-10ffd84c61af phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:747d5d8e-c48e-4f6f-a1f2-f8bd5b4d26bb phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:72126932-cf80-4882-8e6f-c40c7b140045 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:a37cd2da-2cca-4265-9e87-650ec750954e phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:fb97e3a6-24d1-4684-aad1-c2a9744d829a phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:883dd707-72e5-4fd9-bfc7-f1f8513c86b4 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:55b9e45a-8465-4857-9446-5fa60cc1386a phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:bcd8ab16-1987-4f00-aa6e-25a7d0950ed3 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:f57dafe1-8bb1-4306-8316-40b4f19b973e phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:352f1fa8-bd75-40de-8fad-550a86963d56 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:cc7fa277-4adf-4fb7-8e11-f090f2551de9 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:b7fa56c8-0dd2-4ded-94e3-be265e450d60 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:6b95e8a5-8e89-4e14-9fa1-9a4f77fbf2e2 phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:10662742 uuid:87bc219c-390a-46f3-8736-f867b4c6e8ff phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10662742 uuid:ffa6718c-85ba-480e-ad3f-21e4d5d3bc44 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:1c864383-521f-4cd1-99c5-8890f404d07d phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:f423db83-d6eb-418a-b626-6c429ad6c4cc phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:d56a8ea0-4f1a-417a-a176-1445d63e8857 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:ffabf977-b49a-40d1-aef3-8890b8f28a1f phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0032234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:dc0f59ba-3e0a-4ba8-9d12-e3fbfcf9df2c phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:de1737a2-d7f9-45d2-983c-2a6c0e189064 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:cce11e90-daa4-4017-bb47-9366d6f82fd7 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:d2351aca-d6bf-4002-8df1-06d3bd167087 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:af031d78-7046-40cb-9225-8132d9da76cd phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0011711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:b10c1d1e-6700-4f82-a261-1fa70dda00ac phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e2f6968d-2fd9-4ea2-8185-d434ed4261fe phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:f235d522-3bd3-40f7-98d5-668bb2e1b9d6 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:a49ada98-3f01-4923-83cd-4b4267505adb phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e36e8906-676c-46cc-933c-f54569ef6a5c phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:12de6cc5-b0c8-4f16-8ff8-cf0984a4afd8 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:f5eec081-1f05-4bd2-bcda-d3a00e41e840 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:78dff147-bde2-404d-a726-b043c44f9109 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e9d3a423-32ed-47ad-a1f5-93745148f682 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:62d3240f-81d5-4a8a-9942-8f44452d1792 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:078dc5cc-6387-4640-8251-29f34c2d9c7e phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:2f2fb5f4-5444-42b7-9110-c1d627eb0734 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:10662742 uuid:55f4242a-e1b4-4aa4-9b20-d930bb78db21 phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10662742 uuid:194f32ab-96a9-48cb-97b4-3a037189c4f7 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f0f3880a-0415-4b42-bfaa-38009daddcc7 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:32994128-8591-4313-96dc-93c35f905744 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:62e12a4d-77e3-485a-a4c6-b40d45ec1ebb phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:de0adf1d-b227-4541-9371-a2da4542de33 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6b2ead57-0436-42b5-b55f-02fe950087ce phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:932b2a72-dcdc-43a6-9507-86775a6fb500 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:dea35460-f003-48e9-8a7a-35f2ab248a8e phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4b01d8fc-5961-4a4d-9f0e-02d865539494 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:39a98873-c696-4e3e-b9a3-9bbb0c73641d phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c9b0c9d8-038b-400b-b843-f74de57a7936 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3c8c9eb4-0063-4a85-b580-94302ae6134d phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5278f5f7-8d28-49e0-905b-6b8e989e6f5e phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:99566f60-a6f3-4c7d-9e0c-e9b2467dffe4 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:809d3bc0-6463-4a62-9fef-272b03be3971 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c675b9c8-1e75-47bc-b6cc-38725044f7e2 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:91649bde-fb4e-453c-b955-72a630b35755 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2d9d1f29-ffc4-42d7-b456-8fd1c95ae5a8 phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6890d268-f27e-4f3a-92c0-4b50f4db5619 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7fc4a32c-e486-4a6e-b852-ce793f0bd7d7 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:84dc1702-c733-4eef-95df-db0067d310fa phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2ba1bbdb-a57f-484e-a9fd-3b9c5dc3bb72 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7ce92b07-829b-4c80-bdd5-5c801e732f92 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2ef408a2-75c7-486e-8813-2779312c2d74 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0a6bfff7-9209-425d-8e6d-00ff79740566 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ccc6048f-051a-47fb-bf8d-3ac04e2b118b phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:00e88c69-af97-4985-a438-800ffcdd4e4f phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7e32318b-5a56-453a-872d-1c90fa842ff3 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e4187a3e-5941-4223-8db7-d25f0e1067c9 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ef384b78-f69a-449e-9a0d-19cde02164a7 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:87e99765-abb2-4286-b741-aefe0195e452 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:87103e6f-a2ea-4cab-bcc8-5f825db1c78a phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d16758c5-ed1b-4122-b4a7-e9be3498893d phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:44d405a2-6ac7-460c-8e27-bce35a21aeb6 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:57cf2af2-adec-44ad-b1eb-e3cba18f547c phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ed478985-f6df-488c-8337-66b49dca49c2 phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:556d6d54-5d7f-4d01-84aa-9f5a1ede96bf phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:2d860397-ab34-46fc-bcc8-fd7cfc6e8dd2 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:83e8484b-e419-4a04-8604-16eac60c73db phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:bf29aa79-495c-4e43-8d7d-caaff7e12210 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:a81d6922-e732-4376-860a-6767d6f24edd phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a44d7e19-df47-46b2-933d-989cb5f8f109 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9c251a66-777d-4968-a88b-67377690f761 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:746b0dd6-2abc-4ba3-82f1-572d56cf5217 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:3c9a733c-0ac9-455f-84a0-7309b7f155da phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:247a3e35-24c9-44c7-8e5c-33ef13855bbc phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:384ea0c5-18c0-4f83-9563-b1db2baf4c45 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:90e17773-d71f-47e4-b5f5-5a3d895b0bee phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0c696414-a36c-409b-b1a7-a64ab2e029dd phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:13dc3ea4-f519-4ebf-aadb-3708f2587e9e phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:57e88fbc-0244-4e9e-a65d-6e2b01a75ea1 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:76c1f397-2e6b-4493-bd0a-b0ffa1aa2403 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5c154727-c331-45b3-9ae5-7c4eb7602a94 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:77c80283-9821-4321-a73a-3167ce01a27b phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:11ea3b0a-b373-4b4b-abe7-15d93fb5d1c8 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:2ce3c420-0984-4f62-a647-3a301c7e68a7 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:840b1fa0-a049-40d6-971d-a0fc7cc02f78 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:37843397 uuid:982d65eb-8154-4cd7-99a9-1d146600feb4 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:208642cc-a4a7-4647-a5dc-8213766f6261 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1a454120-d69b-496d-a79c-16dab8bed89a phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e18fed1a-9aa7-4b9b-ac69-956c091712a1 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4eaf92ad-ebff-48af-941e-3dc544606a60 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:58791c34-7a10-44c8-91fe-5f716f6c1404 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cc9e1163-e919-4231-bceb-cf596dfa0f82 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8fb96dc7-c05a-434b-9eb6-50979b30a345 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:79adc350-396e-4f27-9922-83fdc8e5bb82 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4e2b9b00-e49d-4538-a6d2-7351d65b8856 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:70c59f60-f10c-43f4-851d-a587ea40f876 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bcf3a790-c23d-428a-b71a-2d72f30fe24a phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fdf94e2e-d5c0-414b-99b8-a440b767e135 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:80311ca6-156a-43cd-bdda-4ad8a902acb7 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b1142c03-1fc5-4bb9-89c3-cc0bf9e03e34 phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f70e3e0d-04a9-47b8-9f96-9888494873be phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:19c69b9c-589a-4a0f-ac88-1eb33e78f837 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:63f93070-682d-4923-8c18-b77bf7a5b06c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:bed8e48f-b765-4ca0-b822-b247fedfe718 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:af787510-de2f-4339-9833-336cff27c620 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b686f044-2196-41e4-9716-7fbec36d1494 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:be55718a-cf8b-4f74-bc33-f33ff6c6cbfd phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:39927ca5-50a2-4619-90ef-be787e22b947 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:fdda816b-5817-4d10-a9dd-eefb96aed481 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b1d5af97-0d1d-4dbc-9abf-b0aaca3aaaa6 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1e331734-1ca0-4c69-b4cc-2eeb323647ba phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f2f5c84b-c92b-4a10-a2e3-138ab364f281 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a605127b-f27d-49e0-b1af-5e1fb8379d91 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d9eca450-7010-4de6-a213-70876e002745 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b2b3003d-eef3-47e8-9c6c-7218613d0b57 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:65acb6f7-dc68-48d8-b13d-13720ca6305e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1687b443-76ba-426b-91ae-48adfc8a2d40 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:10580070 uuid:b04f991b-ce0a-4269-84ab-fa060a10e648 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:1e606f8b-d144-47e3-ab1e-ec59f188dee4 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:9ab0ed3d-9989-4cda-af96-794a0e376a21 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:4ab76c43-3622-47c9-98ba-da72e5569bf9 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:5ad250aa-976e-4792-a444-67db8aeaac54 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:69134b7d-d11b-474f-a40e-13789e241d25 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:83976e2d-0abe-4fe3-89ca-29f324e3874f phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:7bceef31-0c8d-4b16-b427-113bc83d7c8b phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:4d90cbb0-3445-479d-b011-bfd42a533e35 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:8c9aebb1-b735-4169-b64d-bd8dee75df97 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:978cd38e-e95b-4df5-8863-8d1db76e1add phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:1b5d72ea-20d6-42dc-89f3-48a6052d0801 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:36e2ccf0-8ad2-4650-a8d7-345b30b9c658 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:64e494bf-ea05-43c3-a296-832a71923b1a phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:159757a0-208e-4def-bb6a-96adb07893bc phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c0f55b98-29d6-4063-9f84-1a87bc90b467 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:34baf27b-5964-4dff-b99a-ec8713fa9379 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:67151a04-6ce2-486e-ab3e-8ff9b77df28b phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b597bf5c-8060-4449-852e-ca4425873334 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:0b26ec04-864b-44e1-b31b-41655174d8a4 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:512b3a28-704a-4463-a5a1-2d877de8c32f phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:d2a2e862-6087-476b-8655-1377e7031940 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:97bbea34-2f90-4d8c-bce2-aac97cd032d2 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:d02e4347-b794-4534-9823-7d7efcfd6829 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:4ad12674-405c-4327-b722-20518453f61d phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:458ea099-9906-4a9e-a46e-345b6ce05a05 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:8c7eb0b1-521d-4650-94e7-d9f90386f881 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:de3eb4ec-624e-47f8-9641-da1006818217 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:29e6ede2-c37f-4e47-aa01-b5b21562fe2d phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:834b6dbc-29b9-40c2-9044-5ad785cdaa63 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:ecc3c5ae-197c-4e1f-a565-9f392845a317 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_phenotype HP:0012592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:0ebf0fbf-0052-4403-b56b-fe7a70233991 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation P60Y infores:phenopacket-store PMID:37303127 uuid:c09429b0-445c-4664-95c1-12d0b500a448 phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37303127 uuid:b95a62b1-56e9-42e9-8877-598eb99613f8 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:d0db5627-04a9-43b5-b423-f7871b2388d2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:b92f4c3d-bf48-4a4f-a1cd-672781587fda phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e0cac4c6-c47c-41f4-bb99-a794bdba830f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:11919004-216a-4c41-ac6e-8d910f3993db phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6349a4e8-70a6-4a6f-9856-fa5de92a4712 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8c2ec127-7b9b-4970-aa75-4aff33cb78ba phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0c451d48-e273-48ab-b7b1-feef9f5f252f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:35fd5956-ee6f-4794-8902-866f28e5fc34 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7595a4a6-2a67-488a-9fc1-80edc9cfca85 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:81139d1b-55ca-4ba3-a491-0b9e5fd06f6f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:62b18b84-df06-4051-ab84-b9fef4a0af74 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7b278808-3195-472b-b4c5-5735ec7c8bb3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e320f0ae-3227-4cac-a5f5-f54a8643feb4 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:54f1a202-2bf1-4ece-a2a0-cf4c80326ee0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e4df2161-e93b-4ba7-ab6c-12f5b37ddc4d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d15eff85-a4f8-4157-8840-d94c21c6a8e3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e8fa08d5-1651-427d-b42c-a15eff93370d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e526ef95-e98d-45fc-af4f-e514a8c9c18e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:1b0a463d-b774-40e2-8ad7-1778bf65a67f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:e2977abf-1fe7-4f47-8a8e-9693c66e4cff phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:10939567 uuid:e9ae22a0-5a95-4c6e-a9c8-96f2a83525bb phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2abcc9ab-ad83-4a5b-94e5-eea2ef2d6885 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2796a4d9-d3cc-4093-af68-d6ec9594fe89 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2335cd60-fd12-4880-91da-ad8e705d8c3f phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c1d6a80b-2d2a-4160-b42a-a9a02e8cbc5a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:10c5a2a9-778d-44c6-9a2c-b92ab091f329 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c04f5dc8-c6e4-4de0-9423-262b84c85a34 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:05499038-8a7e-4be1-9ba1-06c87a68efa9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:38ac01fc-28ed-4e7b-bbbf-82f465f5f400 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:334ec48c-a358-418f-bb74-c8836ebde4e5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:82892cfb-f688-4208-9088-c2cd7a2994cb phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bd9ddb01-fe1b-4046-a578-8931264770e1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:724848fc-0874-4d0d-8eb6-f40fbffeeaf9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4438f05a-b75b-4031-a11a-6878ad692f32 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:537b848b-33be-43da-a5e1-a3310fa0dfa8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4a76891b-22db-47c1-876e-e3565433b6f7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1884185b-56c6-4d1b-8f0b-0fe13b8a0026 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2b0806d6-1128-4067-968f-8f3cc861e210 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8e9fee70-c317-492c-bdc6-19a8df1a82e3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:495e9e65-3c36-424b-8e78-a3adb6a8636c phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:673f69df-cc5f-4bcc-894f-e06410a5a120 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d3abae4e-df15-4524-8685-389342935c76 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cdf3e2d2-794a-4c7a-9390-267936655336 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:02168b97-7d67-4691-8700-a8437a06ad33 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:41b87877-0f80-4acd-85fb-965bd48513c1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1f4355be-cb90-49e1-a2e7-ac0a6ba143ce phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:de12e975-085a-4dfc-ae82-fdb6d84c218e phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6256c3de-52f4-4233-b113-302a6ae2dd92 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a0db50e2-a594-4c82-af96-9757b8c4d6ce phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:10939567 uuid:936f20af-21fb-4855-811e-79a56715f466 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:79b85f19-1890-4dc3-9524-badcb468f68c phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:40d105df-3f6f-4dfd-9b69-2afd74f0fb42 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:4d6505e4-81de-41a1-81d2-805eae32c713 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:bac7fc59-209a-4fc5-8628-fe74f35bb41a phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:6f1184f0-0251-42c4-ab64-84b6101aa0d1 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:f8bd7e9f-27c1-4de7-af70-bd315294c08b phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:4a0d9699-305a-4727-ae68-bb1f53a74c3b phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:dc6b5e53-976a-49e1-a296-5183b0221b53 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:9830cd0e-4ba1-41d6-9551-166ec2d85017 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:604e7773-73f9-4d02-9782-d7bb3c32c725 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:4cef2fac-83f6-469b-8b44-e9d9e436c420 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:de7fc105-508e-46b2-ad7e-2e8f010f505c phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:6b117ad5-fc41-4fbe-b05a-5198a8565775 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:4468f406-a447-402b-9cf1-09c7f771ff6b phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0000991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:1c4a6abd-0008-4c3f-92e5-133fa9f793ad phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:c709a571-d7d4-4493-a501-3e7dce606cc8 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11344241 uuid:5de86bf9-c804-4329-bc3c-5199a7d5dbdf phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_phenotype HP:0033477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11344241 uuid:8f0b145a-3f4f-4ce2-9990-7b3fb55b326e phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11344241 uuid:6601b567-1f04-4128-ac7b-49abb86d44b9 phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11344241 uuid:ea4f8083-1377-4486-aab8-1c9fb73a8865 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:37843397 uuid:5bc4d561-6815-4ed5-a8df-0e4ea204057a phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:37843397 uuid:11e4c932-c8cd-4478-9678-dfa9d1ef3cd1 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3f00bce8-f229-4282-b056-1c445fec2d94 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1d2952c5-2490-42bd-a088-5f22b6994431 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f0d6fc53-dc2a-44e6-a80e-4c33fa7b07ea phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ce250cc3-951c-479e-8391-a5dcd6495c0f phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2198550b-f770-4dfa-bfb1-fa4173c37a39 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:91d52b11-41e2-41c8-8b7a-7a56915a1d1e phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:96eb8737-8ccf-47f9-bd49-cd6583c2bbc2 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2e3b5568-be6b-4404-942b-3b8b078a8d6d phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f0dfa009-0e0d-491c-ba97-10fa49166c1a phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:646a50e8-9a22-4cf1-9a19-3b781ed4e0f0 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:df567122-d153-40ce-a645-289c9ac2b419 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:24759eb6-8839-41f5-b9a8-1794334d96a4 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1ca3d4f0-d239-44c2-9db2-74f7b13b2fc6 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:dce0def9-eca2-4d84-82cd-e504077164a6 phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:911f3fa1-6550-4447-8f00-f4955171b14b phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:047cfff0-0d9a-4dda-bc71-959bba4b3a3d phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:86294ec7-7f83-46bf-bb16-937538699da0 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:57f06700-d9d8-4ef3-a3ad-b3ef53ceab84 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e76d2cef-1574-4bf5-98a5-ff017fd9deb1 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7b81a28b-ebf5-41fb-8234-09c394041a5b phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5a13ddad-ef64-44f7-8e43-70ba399cfa58 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:097ccb24-c880-44e1-93a6-afa459befcc0 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:878f44af-adc0-4c51-a5ab-316a341e0dde phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:78d881ba-032e-4c63-97d8-4f6602b58dd1 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:479f780f-2b3e-4a03-af51-a8442131a949 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:493f90ec-08d9-40ea-a988-fa21f89cc9c2 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ebac182f-e271-4dea-9efb-80ad0088bc51 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a102c891-9ba3-4173-bf13-44fe5a2d84ed phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:10580070 uuid:2d27101b-545f-4fc4-9559-49b098974c5b phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:9db0afff-fb12-44fa-b2e5-5adcae7cb9d4 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:17250669 uuid:1b96c3f6-d259-44a7-bcdd-4bc19b8941c3 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:fbc77b0c-8e70-4feb-ae6e-b867bf4bbf6a phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:085cdcb4-020c-418a-beff-4b15ad3f229a phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:e8bda534-d43e-43f5-b048-55732f629d9a phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:9560e9f0-c4d0-4bd1-a0e8-ab33fb1ab661 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:712f85be-be29-4d1c-976f-aec6af64df62 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:340894df-3a30-4fa5-85b8-06eb5e388953 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:dc8ac515-c1e3-48d0-95f2-356777e17463 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:cf3ac0f2-c91c-4eb7-99c5-5b24052aeaf8 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:993715fb-c842-492e-bf6f-7753bae74970 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:1566fb9e-e239-4419-b19e-ed7241f10ab9 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0000991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:6b7dd593-e342-4380-9970-1b1d8a9ae7e5 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:0e45e86f-3908-480c-813d-2c6377040665 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:521480ef-614a-472e-90fa-9cf4715bec87 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:0b8ba453-26c8-490c-ae74-888088627f5f phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:dc2806fd-fdd4-4ce9-a1a5-67a201340d98 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:a32d29d1-1498-438a-86d4-835f2e59fb2d phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:0aabac95-55d3-43bf-a11b-6aac83c07de1 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:c312612e-6d61-479b-a15a-bfb7efe4dc41 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:d3495d19-7ad0-423b-97c0-657f8d527c62 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0100324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:a0106042-7948-4ede-909c-89dd56f80c8e phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:42ccfe10-d100-4751-9e95-6e84e1f974bf phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:bce2b83d-cd74-4c4c-b715-279e39781e99 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:2fe4c344-d7f5-422b-ad28-b598c1a237b9 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:ac308e82-6871-4e6e-9004-d6b909ec1f22 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17250669 uuid:b070b4d0-b4f0-40ac-a254-5d4c0bddaf08 phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17250669 uuid:b0b732bb-8815-4f4c-b3ba-19401065b2a8 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:456eb603-96fb-4f11-9059-21762bf2335b phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0f518462-1c68-43b2-a243-a1bd31ee53d9 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:18bc0de7-7046-440b-9bd6-595bbe4cfcc1 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c2270716-1390-4d75-bf14-a6bffbef76c1 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9f178117-86a2-46ad-ac39-2ca04180a067 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:44ae8e21-e219-45b6-83c2-0b9bd9a618ee phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:bb0a6a5e-e7ba-46c7-9ebf-ae4496d325a8 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c9aac0b0-b740-49d7-a10e-c026153b2ed6 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:783f3541-930f-4011-8870-4423aa3148b7 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:33b8e656-c837-4cc1-870f-af338cf46485 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ff10f5f3-8dcf-445e-9b36-1eedc5e1d344 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cf7331b5-3388-4631-8388-1d6392923259 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5465fff7-3d6e-44c3-a6ca-ec5e48c98fd7 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c1621e1d-9a31-4799-8780-9cd2e47d5576 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0d0ce09d-633b-427e-a7db-525b7b68e134 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:97f2690a-d2d7-429a-9525-75d776315ea8 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5f644dc0-eb76-49f2-8465-4566ce15d6a0 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:73ff5ed9-5822-4264-a563-207519af3cb7 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:9e1b7b2a-01c7-4e09-80b0-5ea2e15f0ca5 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:9b045b46-0b63-42c2-8a9b-d747298a0022 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:10939567 uuid:47e8814b-a021-4c17-98c5-9c09c1379cd3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:edf04675-7dda-4060-ac48-e394894e171f phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:56a4f8ca-0b7d-41f1-b363-ff59b5bc5183 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3df7487a-8137-4f5c-a887-ba629168675b phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5dcdd8e2-1988-4996-803a-38459cfd9aa5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:404de586-5f23-4303-88d0-3de3cd5591d8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:34b660ca-b5f4-447d-a542-05d70dd67c09 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8e6e6388-4e87-426e-b326-dd4f8d25dacd phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:da4fb658-5cad-4d11-92a3-e0b7a0b58eae phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:646ef822-1303-43de-82b0-985b51e51a91 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:26b6630a-2e62-4fd0-af57-1a556016a74a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c98afa28-cbd1-43e8-aef9-5440052e5c59 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cb60c3bd-83eb-4ed1-84df-49d0c5c4edd4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3b8dd0de-f117-4727-8a3e-89080da14b43 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:984c3a3e-d19c-4338-a149-1c00a7882f43 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:254ef42c-7668-4dd4-a83e-c3d4b1fa1777 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7d046422-bed6-492c-9860-507399140a78 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ed724a13-e5db-405a-9068-31d79aee1196 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:02a1b612-08c6-47ac-b518-ec06aa8e5a4e phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cc623050-67d0-42d3-865d-4331208015a4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dd30b566-e3ca-44db-9b6a-7df598c4fbed phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:01bcc56a-d733-4643-8c82-683cb26f7ea1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d3f51d01-9f92-4fb6-9bf8-12f8335e5a4c phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d1ffa675-803b-4ead-a476-24f055c83533 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:929699bd-ffbd-46bb-a738-72290847b09b phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1c9740d2-2d83-490f-9781-b8138c8c574a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e73b3cdc-5d39-4e0b-a900-9d2144be2e39 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:13d9e843-526b-493d-b373-fb3a1670a343 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fc1e35ba-8786-49e3-b8c5-cb15cc46d0d3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:12ffc1f5-4a12-432e-8c14-7317d2252ec9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:beb2a5ed-9fd8-4a6a-bc43-4ac26e0aab6c phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:68edd13f-6212-48a5-a0b3-798ce721dbf8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:752f458a-aae6-4e22-a4ab-4a563ef4f5a7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:10939567 uuid:ec44a507-fa02-4ff7-a4a1-ba226a235f25 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:2b176e46-9b44-4c58-bad3-0a2365cf6443 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bc444c56-e17f-4e86-8588-114770e30816 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:312d1745-f258-4aa0-8959-09061427d6cb phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:52e92eb1-716e-4bc1-933d-d5e8c9b0baba phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:249dde46-4a38-4659-b158-ee55f1d439e2 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:93398bb4-0c77-4e45-ac80-44f57bc4b6ed phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:dd5a6b0f-5335-4ab4-ac12-016805320447 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be9b72a3-05c6-48cc-911f-618f02079cd3 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1a51d26e-0f32-4700-b6cf-78885f2212f3 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7fdbb1d5-6623-49aa-9c99-40d2ff5698cd phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:26bfe8ec-af00-4302-8acb-c00301ee1d70 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3d19ad69-d2d2-4131-aad1-485632335a7c phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5c0923f2-8240-4f91-82eb-509daf8f0c9e phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e5038ecc-3a26-4cf8-adbd-3c4eb1554ce8 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:789159ea-9a26-42b4-a94c-15d9588c07f9 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9575346b-ebf5-4320-ab2c-5accc44a66f8 phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d7da02c3-df08-46e9-9daf-01ea99a0f90f phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c54bf541-821e-4cd3-96f2-5c0972a2052c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:669d1551-5e1d-4056-835e-53e8d1e10eba phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:52a5bf52-1c3f-451e-82bd-0b3a1893984e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:5e7ab900-9f95-49f5-a435-223be6db9398 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:030c16b9-dafd-4e3c-98ad-68eece9b0ee6 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:fc740fd0-c396-4750-aa22-054aa0eeefaa phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:d51a816e-479d-4d83-9d9b-40548d28a800 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:328e7b6a-27c5-4fd6-ace8-6d6b251de282 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:879353ae-36d8-49c4-bcb2-f2864624992c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:bccebdbe-7cd8-4b51-bb6a-e8bbc0a5b316 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f5845cbc-ac84-4f21-9c3d-dc8c908b92c6 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e67f2aba-1b72-40de-9373-22d7b4af9c4c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d8bf1875-6ded-4a3f-bb1d-2290224cb2a3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a0ea1977-4b07-40da-a09b-a3e99b47dd44 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5781ad46-e034-4dcc-9101-7f8e5cb41a97 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a0047c88-6272-452a-b551-0ab823247591 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:025abfa7-28ac-4dd6-9e28-7c8559e67e1a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5c8856c6-8da5-4366-92e5-6a186249ee83 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:81ca3a9d-dbb4-458e-adf8-0dfb73a01ef1 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f4e9fa0f-c2b2-4845-9f10-1e4307aca059 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:81eb4aff-5b9c-4e15-8c17-c520b6578776 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:f11970d9-227f-4622-9ed1-94724cd39dd1 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:37843397 uuid:9e76b2fd-de74-4de3-9eca-e6dfb9d9039a phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:94a925b8-2452-4a47-b7cc-b47822d98364 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0b7c0107-8737-4dde-9b2e-b5ca111e41b8 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7170be99-c25e-4219-88a4-053fa199ec82 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4e1dc2b8-15ce-4e6a-a3f0-ebcde4b5414c phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:411e427f-d0f1-45ab-831b-c454df0b7947 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f474dd23-f104-4e52-a332-27dbd9ef30d4 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f0763f9a-e924-487c-9057-b85dca6d061c phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7d0a6298-e55a-4892-b1a4-63a34ce99a2d phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:75b56603-f42b-4bac-9c83-f6e714993df4 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2ce36a21-f97b-4b3b-aeef-ee590ee36a57 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7d0910dc-e15f-48ab-adbc-ebfbf9a56136 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e9956ce1-b0bb-4706-b8e4-f33e0498e48a phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:11519589-41dc-4ae9-824c-ee83552b7556 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1a9a5715-b1d9-467f-bfa9-2c9ab791c752 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:afe7a502-90ec-45d6-a604-a08f14469c9f phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:372384d8-d47f-44fa-abae-3b10195c5e75 phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:44c8a26e-7623-4349-9bbd-b54ef8901af2 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:37843397 uuid:99b5dbf8-8934-4c6e-a132-888aba0dde82 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0211c4c8-ffc8-4b3d-89d0-a12efb7368a6 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:91cb0ddf-7115-48f6-a119-8943d03478fb phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ba1a3ff5-8f3b-47af-93bc-dfc9f4760b59 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6ce03cd6-f447-4644-91d3-c42982e1376f phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:855a6157-8d3e-494a-863b-6ab462a13a54 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:273c0980-19a5-4fb6-9920-22775221a228 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:42a200cb-33e7-448c-a3d7-9b9f2c143357 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f1eff294-c14f-4967-b405-f21aab6ac743 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fd0f32f1-1a03-415f-8654-daf298de3441 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6ed38809-5e61-4cf9-961e-f169b4d97aa5 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f0121556-6b0d-4949-8363-3942ba8e1078 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eab6f8b9-c4f0-4cf7-9897-3e9beed7e257 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:158ae292-62c5-4f8a-ab51-5df39dfde565 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a972f561-8353-484d-9a70-70226d05eb7e phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fb8aafdc-b054-4058-831c-631b9969d282 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:93b30126-64c8-46c9-9cf6-4ea87adc1436 phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:22b53d60-d9a9-4322-95fd-714cb111dfce phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:37843397 uuid:352e5df2-7c72-4f0d-835d-d98a761180fb phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ce5f9bc4-58b0-4453-9a46-1a592e659ab2 phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e4263808-3d24-4edb-a113-9b00cce7ddf6 phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9e142a1d-1565-4fad-94fb-a381c370802d phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2c8e4f5b-e4ff-4ae0-8783-3a4e3d25ff0f phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0f49ddad-25de-45c0-abcf-9585683de70b phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:705f884b-152f-49d0-817d-369e986caa01 phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1fca7051-e6b8-4e16-9020-6da4bc8c055d phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4a8a544f-47c6-46bd-9c3c-1058c23b5511 phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b8ac15d5-ee6b-4a63-b15e-e6f72f35459d phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:674bbb8f-0ccc-446c-bf18-c01d0b79b5fd phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:130927f8-ffa0-48c8-8c3f-e2beae741ceb phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5dc39ec8-4a76-4f76-887c-37351bae8f60 phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0ef733c3-49ef-4a12-91a9-4383d0161734 phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2c8e5023-89b6-4aa2-b6f4-b4b3da0a8cda phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b72103ed-e303-4b54-b363-afd5ff3b791f phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:5a410398-73f6-46d3-bf54-d34ef4996177 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:9531f11b-61e5-4e43-9994-ee744266be08 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:dd7e5f84-17c6-423e-902b-9cc5242c35c1 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:aeab442b-326b-441d-ab45-4ec29679b2f3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:8d31bb57-571d-48bb-87d9-5bf7d502c429 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:c18340aa-e47a-4c82-91b9-29b659ca122d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f179de09-8f03-4e0e-9c8a-e6e95b3d9f76 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ca4232a4-f897-4b76-8ae0-594f7f5f7e15 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:64f987a1-f7b8-4f45-8e77-52eacb0f9b50 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f11150b0-5466-43e5-a2b6-912d396d79e0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d516ed6d-5984-4f22-a8f2-b889bf8935a8 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a7569d0a-8614-4526-bd16-6ebfaf3af998 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:156893c3-2a1c-478e-ac5a-7363dd31b1dc phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e8bf6637-2b9d-443c-b13a-b4f6ef70cebb phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:065f94f4-7952-4ec5-9c6f-b442c7fad366 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:de682964-f8ff-41e5-8afa-527c32ead109 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:159c24c4-9cc0-439c-b899-e953e59aa985 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:abcae573-c3b4-4fea-8dab-b621985f47e9 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:753d8182-4740-41c4-997b-ae7ec67577f9 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:29e65f68-f958-4f20-bde3-e0abaed26518 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:fe20ee98-f0c2-49a8-a9a0-e560369e3bd0 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:9f47ecce-490d-4fa2-b618-9d2d50de5b68 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:652cd4e8-1837-4d30-8679-7cf268cec87c phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:f9f92db0-c657-4342-ad55-345ac759aa7c phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:dcc9bc1a-1757-469f-a0d7-25cd8417653b phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:4206fca9-ff90-4ae5-a2d7-8d8f82c2dfe1 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:6c7bd7f4-6b03-46ac-a50e-ec43c2f9cf20 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:870f8237-2d3c-44c9-8849-d033be0269a3 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:479e3dfb-c02b-4fa6-a0c6-b87ebd3647e6 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:e8f88b6e-c483-4eb7-98f8-762fd867f557 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:a16b2059-5c60-4c52-a797-737b6d2f3447 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:b0e1ef60-304c-44b7-a60e-7672433d3792 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:b380be72-18e0-4cde-b74a-102a762e8535 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0012592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:d4624be8-ae14-4308-9815-db97b66466d0 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:92ebdafa-507b-4b43-b094-7888369bb70b phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:230df5d2-9a69-4f11-8962-9c79886a8592 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:1573d928-6cd5-42ef-8ca0-9192692bbc08 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:8675efa3-481b-4a3d-a2a4-65d6506fd5b4 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c62ff3ea-b7dd-4eb2-9317-bab6b4bd9abf phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:ee81536f-d756-449e-bca4-92dcac9d5be6 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:18fecd60-6dd4-4ccd-8cac-571a8603e8cf phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:8add466c-4013-4509-b2b8-3dfa9537c87b phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:a01457b5-a45f-4ab7-8f7a-819d7ab057dc phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:28222a51-d19d-429f-a295-fa62338ff3e0 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:367759d2-b165-4480-b1dc-ff7c4eaab7ca phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:098ce80a-c73c-469a-abaf-64cda8585409 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:e6ed8160-7b4d-456b-9535-a45e3dd8306c phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b31cf0f6-c20c-46e8-b6f1-5359fe091d43 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:abc93385-0b48-48eb-a103-92b7d86cfe0d phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:354f8e8f-ea27-4de9-b0db-3c84a013ae0a phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:37303127 uuid:d0906507-4796-479c-92f9-d6f89a498cb2 phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37303127 uuid:7816cb09-b76d-4d29-b283-ec1f1eb61850 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a500f33b-e7d2-4e46-ad77-893a7bdd5a92 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e212d2ba-5b69-4f15-b126-eadd6de73266 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:23ea8ebb-8032-42f7-a5f9-6fc1c2ad303d phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b2d3a868-da24-44ca-8c67-2c3f9a1b60f0 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5f8dcf3a-0091-49ac-9427-9178d8d4ac44 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:358977fe-6196-4552-87bd-4c1dd4b1326d phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5c130d0c-9b41-4b99-ac53-99e5c53a06d1 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7c70cce2-4c2a-400f-a55d-5977ef2c8644 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0c3fc9c9-62d1-4918-baa2-5a9203bb58a2 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c16886a8-7db7-43f6-949f-f93f7a36dfeb phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3192f3ff-13dd-4fc7-8f06-82a7b0a04ba0 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6d535a5a-a5d3-48d7-a8e8-a6cf45264fe0 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1f93dba4-3a01-42bb-8343-e0c13fb53d85 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:142a101e-325f-4e80-b1b8-016d09b46118 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:03b72191-a241-4d6b-99a5-92205ffffd03 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:93096cd9-3728-4f36-980e-238c7109dbf3 phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:4c229ee4-af7d-4e02-a247-bb7bb725fb82 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:38b7c5d4-3a88-49a5-b5ec-1dd1cb756c28 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fc8c5e96-ef32-4a85-bd08-8abc157cb2b2 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3937f4da-a84e-4435-9955-70815abbd826 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cbf63905-b837-4e60-935a-a84521ec8b46 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1cae3e2a-8da5-46fb-a860-126c3f6800e1 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:182d2bd1-1205-4d2e-979e-a99a2b41e437 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d6ae3a46-9c41-4126-ab16-8192ce8e0a38 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6c1781f2-a718-4160-a93b-2acfafd7d636 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:63a00c81-ed9b-4ed9-8bbc-72bc0872b87d phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f24eb743-7d74-4e70-8d54-0c35c0c15d17 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6a12dcfe-1d2e-4900-aade-e83f1f8889a0 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:72fdcd52-acf8-4126-a7f3-4546adc08c68 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6299701d-9f31-4bc1-8570-24e3fbcb583e phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a01f289a-2fc7-4bc5-8e9f-9044ed91d52f phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c77fc89e-4a90-4cca-8f52-ba3c71ff53aa phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8d0a4352-5f10-478a-a8c8-02603a074ab7 phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:09e5fb30-2cd2-47a6-84c6-8e04369b51da phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:b7bb50ca-45f4-48b5-a620-3d0fd6b113c6 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:8d69e324-2030-40dc-9a93-2c20982aeddc phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:bb5b9dcd-082e-4583-8453-63dbad697a73 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:e63eee66-40c5-4b88-b3bd-cfaae7162fef phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0001952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:f096ccc6-dd44-4b90-b095-592ec39a5242 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:b12f91b4-e072-4fd7-b1e5-367f7d99b4b7 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:d8f777a3-beee-4e82-bb12-f805eaa966bd phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:6a066c0a-729c-4842-a5ee-b3fd7b48e932 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:02670afd-64b5-4999-b341-ac9e5f696a13 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:342f09aa-39ae-4564-8d98-ef5b4237f691 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:67771615-7ff4-4e52-b750-f224c160415d phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:7236c23f-4c3f-4810-9f74-872f5e6aa708 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c5fe178c-6cd2-43a8-b50b-786644952f56 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:52e33fdc-31fa-4681-a47a-7a7ca0e32689 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:2397a729-c77a-4f6d-966a-0d1e848e184b phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:7d3dfda1-5243-4d6a-bee2-e441cbc4eaf2 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:cfda9003-88a1-4d17-a4d9-c4a6f5c1a771 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:e77fa586-792c-4d4a-9ac0-d795a3874a59 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:276761fb-a1d4-4ef5-b0e6-a04d5e56a537 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:f0fcb924-155e-4de4-890f-dc92e72a4ee4 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:c59e48c0-61b4-45cb-b36f-4f583b716b7c phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:aa1e20e6-b9af-4c2c-b704-198f300a7a7f phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:6d607b31-a54f-4da1-8f10-65b56ab9b08c phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:58d3ea45-bb86-4e4e-8380-3204d257b962 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:322cb50e-5b2a-402f-a538-08a9409d1fbd phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b32fd3c3-bc5a-4366-a4ac-8d6b3288c32b phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:5f85200d-d350-4087-a073-b7ba5439cf34 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:69af23a8-2d1c-4280-bfb8-befa251c1cb8 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:0d9d1e85-a6e4-402b-94c1-4451f2a486e6 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:4fc2a184-89e6-4b17-ac77-8bfa3000341a phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_phenotype HP:0012592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:b7256290-f711-4c12-89e9-d743207afc96 phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:37303127 uuid:bd4f5961-86ce-4814-9a07-7d7c7e883fea phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37303127 uuid:b17fd1f8-e773-4f35-a479-677099c04da5 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:db31b3fd-5e1c-4b31-a3d8-e1a41eb614a4 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f0004c91-66b0-424e-abbd-08c36f64f368 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:065629f3-a11e-421e-9aea-e8ac92e4ff2a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cc9268a5-8123-473d-9687-e4e1e52bd584 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ffd07776-6975-4a42-be9d-ebd3fd972bf0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:410542e8-2f18-44f7-bf27-0b5ddb62722b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cae9066d-dc06-4d05-841b-28b4c61bf8a4 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:75c5f190-aecb-40a1-934c-24f1fb7589f3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:13f24e70-2c58-468f-9cb2-5cda47163115 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a133c53c-af0e-4377-b8c3-2cdf6e905d59 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a13cc6ba-8263-42ba-8454-21db3774f45a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:47093b16-9f37-421e-ad28-16078271a40d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a4a7fc45-c49a-48b0-b655-0c6ff21916a3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:64608c94-b2fa-4eb1-8ccf-8dbc09843b7c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c5451d5a-5346-4daf-96cd-b1bda5bc7e87 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:be34bf0d-b4cd-458b-8faf-a1df215e8f91 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:9baddca9-04b6-4e3b-b94e-8761d3dbde18 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:37843397 uuid:801cd6fe-ca4d-485e-8d1d-ad9f911d5ee0 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37843397 uuid:63f16c14-4a3a-4999-b71e-60debe8bb4a5 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a6a8fade-d925-4f18-b69c-909713932ea0 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f2fa76e1-3e41-437e-9009-87c22cfb69c9 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7eb9d192-1db8-4b71-bda6-0c6b426d5bf5 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9eba33a0-5213-4ff4-bb26-43f3d258a47d phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:376047d4-6875-475f-846f-afbda2fb0a1f phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6a07b39b-5222-4d37-ae1c-80d30dec24f5 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2c36482e-554a-4e38-a2b4-863b876bbc19 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e5ed67a6-4cc3-4482-a503-0679a2f54eb8 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:978377ac-f544-45aa-a72b-d0b31c0e9e4b phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2a840ff1-ed48-4466-bc83-629f4d9b4515 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7f203bb7-42ce-4dd6-b644-98ba9ad951ac phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9f8355c4-6371-4d44-a3c6-7e8b7c5ec135 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ed12769e-181d-4149-b51f-9c9bdada74a8 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:57386b50-24bc-4dc8-a084-ba32e6fb6766 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d944a88b-e695-4eff-afe2-02b0c4537884 phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:14d6a0cb-bd83-403d-9c00-ebf2d024e593 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ced383e4-c79e-4de2-a1e8-cf46f721be8c phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:163da510-aa66-4010-8ea7-b8b6ecde0090 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e2d7afe7-e265-4b3e-9939-ef33784b6800 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e59eb1d0-9646-4b52-9149-4559031d3f09 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9b8a5eb5-1066-4c0d-9061-7a14c3f727de phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:650223ad-f955-4fa5-8f56-3a836ed5d7b5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7093943c-ed9e-44ff-8afe-114e1727476f phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6600bfe5-3a4e-4c4d-9ce9-86a61b8a5565 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:51bc97ae-37ac-4c91-9b01-496d0c7a2c6f phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:285efc8e-1333-4e40-af21-5442c36493d7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:84f1282d-1a5c-436a-8e1e-7c7583831190 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a4e4dd13-db2a-4438-8cd4-94e73c2bbf42 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9b73e548-47f1-414d-bfd4-e87ecbbe3cbb phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0e885afb-bd14-42cc-8a5a-44c5898da35c phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1158a537-e11c-46f8-8a7a-cd4b70eec681 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:562b38bf-7a47-432f-a423-7f761c3395bb phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e69ca83d-afa9-4891-a7ce-d72e2d108944 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8e12c538-d025-4f95-868a-46a84089db9d phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:73c304c4-e70c-48ab-8bd1-b2b5374e6e95 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f98eb8cb-b5a7-41b0-ad40-7975b52ff917 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4de36ca3-58fe-45ba-b842-df902f06a548 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c94dfe93-6b8f-48d4-b114-2e58c2f6fee5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4e5eeb92-30ac-4ad9-9588-f1db95046ede phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2187fe4b-fed7-4345-be29-ba497579a23e phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aca0ecf2-4265-47ec-ab09-7bbefbbeba99 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:500abec7-b5e5-4745-bc72-6daa8e0aa3ab phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4b7fba21-3c3a-476a-94ec-50b37b722bdf phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3062351d-06ab-493b-af5c-4f301b6ed03b phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e3b1d0d1-732a-4eaf-8beb-6f490fdc1b6a phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:307d114a-4956-4d1e-ae1e-ab36ae1ef174 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d6609412-0e6e-423a-aba7-20b2b87c53f3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:07f7381b-c3ac-4610-9a49-1403bfcc2d48 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:10939567 uuid:4e13ca22-e27a-4f62-b2c7-eb5e059edf80 phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:27c8ce16-82bd-4cde-bf05-e708008f676c phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:10939567 uuid:ab377756-1455-4da1-a191-9510320c5e95 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d9387f03-8517-4e05-91c9-bfd41a663d32 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:415f9ecb-f285-4929-95dc-1e1082535435 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:dd738601-85f4-4360-8ba9-27e6e5d54db1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:12356a79-8086-4cc7-94cc-62ddad114ac7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e3c34df7-1ac9-419a-83e6-de7c7a5bd7d3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:830fe504-c93b-4896-9626-4d2347b9be93 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5c07ccac-ec16-40e6-9829-56f6e31f2f4b phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d78399e0-2998-44a6-903e-9cd5384001c0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3f15c30a-834a-460e-b311-f2adc06c08ba phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:64b73229-87dc-46d6-a597-a612c0ff1db2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:75194225-9c90-4bab-b5ff-4b420db8d6e2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bf636e5e-aebd-4fa1-8eca-4a3cfde7cbf2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:55617f7b-441c-438e-9b29-16bd33c65318 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0bff2c9c-41e1-47d1-9b77-c2dbf5b388f6 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f559a323-f24f-4e03-91da-78e660c2f1e3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b2e135c3-d4d7-4a3b-9532-487eddc02972 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:24d7abc1-8356-4897-b1b9-58ca5b7910cd phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ae97d0f6-d26d-4a15-9ebe-8eb903736ade phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:956898af-c072-48e8-8c36-ce4d835471aa phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:70d3681d-197b-4820-8ccd-50df667d94a0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4bb51e5a-de6a-401b-900b-33b551fdbdad phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:852c7232-a953-4c92-83a7-d53a647f3fc7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d49edb41-f9b5-49d2-95a9-fc4d3876cc3d phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:59bc3d52-7758-4d0f-8ab5-412352778825 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a3352208-b62b-4a61-b8b6-abb7c7494bd3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0173db08-e371-48e8-ad3c-86103e411e17 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:94d7afdc-b08a-4b68-9fdb-ba3b46630a4a phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:111c11ce-bdf1-4b71-a102-386cff27e11e phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:26598e2c-e19f-4771-b1d6-e902d3b881d1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a35febfe-02b4-427e-ba73-e0f626b13687 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e78e543d-4dcd-4330-8c97-ac22d5b78651 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:10939567 uuid:ce6fdf96-d11c-44f9-a4f8-97d36b413fe7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:7c607268-64da-4733-9a44-455c689d923b phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c89984a2-b58c-4190-9ca1-cfa9f4b9fa78 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ff06f16b-2621-48a1-8672-cc169d156b03 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a98955ef-4ca6-489e-8f99-355280f3072a phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ac1e8cf6-8402-4854-b923-ebbe0aae6f01 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f48db188-d66b-4924-8c81-6803fb0916a2 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:fb849d92-7f4e-410c-8c13-731d225d315c phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:3be7503a-d820-4f42-9ca9-8ced7a8efb5d phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:81be7ee9-1f80-4145-9abf-ed9b3bcac056 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6c7da289-2500-4547-8dae-7f2f0a103d4f phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d56e70c8-83e8-409d-98d9-fd2b184de7e3 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:8063f7d8-7cf1-4ff6-9755-b91f227355d9 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:51b5c0c3-8260-440a-ab03-044cc782294b phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:12b54da3-be80-497b-9e1f-83b86dd23224 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:708a6628-e31f-42bd-85ae-f4eec92f67a7 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:4b55c772-d63d-4f29-9f20-e576900233b4 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:4806ec68-e092-4a4e-bab6-4ba56235fb0d phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b380d985-7e23-4622-aae0-ed4bcbdafc24 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:7f33c98c-8f24-4512-a414-c1cefbda9f25 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:533c97e6-0e18-4c8c-88df-e403552ddfb9 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:eb8e1d9b-08cf-45a6-ba55-11ceb8676bfb phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:18974a48-5715-457b-b980-d1f462ba47ad phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:001154fd-4689-4844-bab8-fe26ae929cd3 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:73671228-c293-4c17-89c4-b98e3e5fda97 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:f1d398af-a139-4cb4-820c-7a1c956d68d2 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:92523e47-2248-476f-b06b-10cfbf750c77 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:3dfaf2e0-7932-4965-a2de-e371037c3644 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:722af3bb-f78f-47d9-bd2b-5a7a63b326f3 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b66accd8-adff-42e6-9f94-61f6918a376b phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:9b5a9084-1916-42da-b933-5d26b333f13c phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:b7fbdf45-a1c3-4d89-86de-02def4062e25 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:aa68cc93-121b-4eb9-b967-26a05d706471 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e4bbc875-e26c-43cf-8f24-99e396f319a6 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e74c56c7-a21f-40df-8d9d-0afc9ab29a1d phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:db403b0b-f7dd-483a-877e-3a23d6657e34 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6bd1e2db-5892-4dd3-9808-1d72948db229 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4b12a1ec-bc1b-4d5b-b7be-764cec43c350 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e638c409-5a59-4f67-a0d8-a92388f086a9 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:1c9c1551-eb1b-4231-9d8e-5b169c677336 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0dbd3d8b-853e-4cf9-9336-efc127dca3bb phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:b4a8d7f7-67c1-4541-81f2-b40a1fc02d43 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0559283d-2978-401c-95d6-2386e402528b phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:3fd0abee-d38f-46ed-b1c1-44ccba34148c phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0cac81c8-084d-4cc5-ab75-670f314b1198 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:df58e20b-5eb3-464b-a279-d9168268259a phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9f2da579-30c7-4793-97ad-ad451f32bf5b phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:dab445e3-52ad-445f-933b-758b7124e5a7 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:b832cb33-8683-4d66-b93f-4e2b01cf9170 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:92a24b9e-e499-4b18-a3c9-abf07aa7ee50 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:90e5a676-124f-48fd-bdba-8379eb615aee phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:940fbdff-af57-46ac-ae46-fb94353e13f1 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9672c508-101d-46fd-afdd-31681bac3c0b phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c7e35e2b-6477-4e4f-b475-7a446c300862 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:55de1dc2-89fd-4c46-9f30-5cd76fe2cb95 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:03d4a254-1188-4128-b8df-cd6e9163087e phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a651a91e-8370-4117-a6de-a5a579cb2ac4 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:119a22a1-96a0-422b-b053-24ec508681aa phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d629e946-e36d-483e-b8a9-f6cd28b99540 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a66e786a-0085-484d-812d-2593e297880b phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ea38c684-15f3-4b57-bee1-c321db76a6b9 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:756bff2b-79ee-4e3c-8363-5148a74ff3ae phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:eeaa37fc-07ae-48d5-afde-955bd2f12fd0 phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:7ec813d6-1cca-4783-8557-0dd14fbb9d03 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:bc4b163c-e14b-4d59-96a6-83ac8d2c1ef5 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:9bb919f8-928d-4181-9707-5d6b8ddbd257 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:8df33a8d-0b6c-40bb-a1bf-687b564c5f72 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:09f74e7f-796c-4372-b7ac-5328ff840b17 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f86e7e4b-b7e4-4a9b-9938-e946c19d96d4 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d025bd78-8a8e-4092-b6d7-e83ef2575a0f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:085fd834-deac-4822-be0e-8e56187bd645 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:23fa0efd-5bf0-4d85-96f8-9a37f74d4b03 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2184c2d7-d0d9-4fef-9d55-54883a2d2efb phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f71a4df4-9013-42a7-b31e-f12638ff1d6a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:36ffb3b4-a434-4175-b6af-1756c874e793 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cf47b637-6d25-4a30-8cc8-43cf902cfd31 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:10580070 uuid:03152611-4e91-495a-b305-6357e2c60b51 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:a7fcf256-15f4-4e10-9f64-2119426ffa8b phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:af19b872-0647-4e36-a5fe-830ddbc93154 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9edac4b0-c944-4151-baa2-16568842720f phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f7b217df-3bf6-48f2-a31a-7535af7f200d phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:30f1d82d-11e8-4556-bba6-46ef54fa5d0b phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:aa10b70b-35c9-4cde-b86c-9a00c24ba883 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:03d333f9-2afa-497f-ae89-28e5e0424a5e phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:eb6c9c85-f4ab-473e-a451-d2cd8f7934b1 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:93788d88-aa1b-4592-bc45-7ca77676b7f5 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:af9d682b-e7f7-43b1-aedf-da9df8661564 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:782877e7-745f-4a22-9876-c66305f597bb phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:982ffcd0-e455-41e6-9928-2954d3d04bdb phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0ae5763e-8c70-4815-bda4-5e640c00b2ab phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7756d8b0-c540-4997-b182-3b69ea7552b7 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:28ea3cab-cd1c-4c4e-8540-5646ec2d6b28 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b9756794-5ee0-4cc5-820b-348941265886 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:28370871-70c6-42c3-9b41-8822589b9b7a phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a84702ed-03be-4e0a-8d3e-e38b70f9f86b phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:851515be-a5a0-4591-af32-9874fdc6c268 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c40b7f0a-acbb-4d08-ab4c-366a21388f20 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:40ae40b7-ff28-4564-a019-d49ed4848672 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:377ee6ef-4dc8-472f-a406-8cd8e88a2679 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9fc1c237-6d11-44dd-99c5-4e5ffc17e983 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:575f75b5-6eb8-4b45-81d2-16b9a8364b9e phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ca880899-3ae1-402b-8bd0-527cac6c7e60 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:82b86e5e-b6e9-4eb2-9642-099d5e114877 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:edc18556-056e-406d-9564-282812307f3e phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:28b3b210-d56e-437d-861b-bb5266d7ef55 phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c41670cf-6012-404c-b304-d751e6c1891f phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:93c3fa66-6b1b-4598-9511-f69f2c07af2a phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:c1f12430-7a2e-441b-98a7-60cd3c11be1b phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:d16dfe1c-f593-4b03-95fc-405f16404b7a phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:9125e570-ecf6-46fb-b2ca-77f7b1335de8 phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b9480205-a8c1-429b-b4c9-4be1bfa54fe0 phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:3055252e-dc3d-4f51-8339-7516ca6610fb phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:fbd6ebe5-f1bc-4bdb-a1fa-ae4079929338 phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:1f66a31c-4ff3-4f68-9f79-28e764af73ba phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:a1cb7de1-c941-4321-a67d-69a8b4daab97 phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:32f83ddc-f4fe-4688-8bb2-810f94cbb4af phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:f4b3f896-432f-46c0-a4cf-8c27bf5ebd6e phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:f302f5e9-6ca9-4384-94d4-0484fc84a8fe phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:d5c99f8d-7c19-4721-9c94-12c835eced50 phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:3f9d7f99-c088-4190-9748-fef813b6cf9d phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:71c068ec-9456-47fc-a75b-2b6833ed93d7 phenopacket.store:LMNA.PMID_18551513_9 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:dff6dbc7-ef04-48cc-b32b-935e1042b90c phenopacket.store:LMNA.PMID_18551513_9 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:e5eaaa4e-1780-40b0-9c32-88c3148cc72f phenopacket.store:LMNA.PMID_18551513_9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:59d74a2a-69f5-42c0-87bf-9096c760d7c2 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:37843397 uuid:c86bbdb2-19fb-41ed-aa32-1aed43f698b8 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:746a3612-8913-4369-ab02-67bfc950bba3 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5c1910c2-824f-4099-8c75-0a0f99f115ed phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0957a874-8b92-46a1-9403-2317631d96c8 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:03ecd4fd-c720-4df9-be93-30ccad42941a phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e4107ddc-81a9-4a28-a6ef-3350ed8d7e56 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a602bed0-57fe-474f-8ae9-b7df51ba8e2f phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:dbd94a26-9b10-4767-9b12-ba3dba7cd08e phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0dcb24d1-b7aa-433d-805c-b5cd15297ed4 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:81c7c8d6-c10e-4549-8c08-e194794fd204 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:62851d06-cc35-4803-be16-2f2b2d249342 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fb90a0ba-25ad-4512-9eba-e3e9593fc717 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0f28deda-7ddd-4677-9ab4-c85d5ba02b95 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ce9379dc-7d7f-4e9b-81de-ef3cc1715f18 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1e8c0106-ad3e-48e1-888a-c5ca58249e42 phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2f01d6ef-1c18-48cb-902c-ca8159a3012b phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a8cb2e02-0fde-4c91-b348-531dc6677dbb phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:afe8182d-205e-4234-b3e9-e5b90a7487a5 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9f302e3a-b11e-488a-a451-b7eb04621d7b phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ebc86c7e-2e07-4993-bb39-29c90c9d0e49 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dcc53f75-4d88-4135-884d-fd9b687d91c7 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:794c3415-409f-4748-b539-63684f74f121 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:96d1d026-1eff-4aa1-be6d-3c122fc53e53 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3cb69163-79b4-43ab-8568-10bc664901e7 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eac204eb-ea4e-4300-9084-74dd14eae424 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0d42264b-ba24-489b-9e22-6749b75554dc phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2bd2a999-51f2-4201-9a6b-842df872b96b phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f8fa40b5-9ca6-4216-816e-79c409185295 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:35db1ee5-7fac-41ab-9451-03688bafb7ed phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:82f9db1c-9635-48f2-9de2-8ac8abe5f493 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d59d807d-3f99-42b7-9d7e-40b5b930e2c2 phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:eb74d062-a703-4ed3-ab09-3d87ae89135f phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:044be7af-f1c8-418c-976d-9c423a3abc6d phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:37843397 uuid:168b2447-6e9c-484e-9044-443f46e8d680 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:13ef477a-9ad7-4f74-8b10-f1038d16b634 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cd4c2119-ecdb-4f52-91a4-7a4777669309 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:49e4cc33-7b6d-47b0-aaf2-d7ef31c0cfe0 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:032c1517-e02b-4b06-839d-6c221a2e1300 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5d19c291-dc8c-4913-9d54-bfdff45466f5 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6971236d-aeea-403a-979d-5657658bfdf4 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2ac46fc8-ded1-408b-abf9-3a7c08649c8b phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5dec260a-15ec-4822-8c96-4ba041113f1b phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:796409ae-0d9c-42b0-8fd6-9ddd24798855 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6cbda6f7-9eab-4263-8a43-4c4ff82933ae phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0bc2738a-8d86-4bd4-8f9c-9a9db2502c0f phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:abc3f49b-7866-483c-a17b-54deb0402279 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:02faa790-82fa-4362-b23c-489aa533bcbd phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bb453f4f-8024-425b-8fdc-be675ca9045a phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2380e2e9-a891-4158-b058-a737b4f74ef9 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:69eef764-14a7-45fd-862b-51da79740ca3 phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ee22b773-e975-441f-b43c-5953b10f4632 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:5c25279f-feab-44cb-a8e0-12ca0eb9d666 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:2a6099d1-bcd2-43b6-89e2-a44197bf3c2b phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:3cc70a3a-0abb-4094-b5f3-7f358bb93b03 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d6609e37-d1d0-418d-bea5-d4cdf1b32628 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e2f4fc07-fa06-4142-9988-faaecb8e8e63 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b2161e33-bd6c-4e4a-97fc-47b473677fb2 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:05c022d6-2318-4339-ab74-d502bc5495a3 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5eee981e-be2c-43fb-b413-6d82c01e157c phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:19617257-71f6-448c-a25f-7f0cd6ba72ff phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:586fac98-b3f1-436b-a815-16b3858bc367 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8cb314ec-7fdd-4b44-aa3d-cf4ad5aad328 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:466997fe-2260-419c-a913-937f5e9e9340 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:10580070 uuid:326e3e69-e711-4d11-9306-6ed479bb3219 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:1a3987c7-0db8-42c9-9c9b-565bcc85929d phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37843397 uuid:31152499-b87e-4f44-b96e-3424df327dcc phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37843397 uuid:cace5e13-930b-4788-bbd3-6e6e7909048c phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ddae21e9-2fa1-4f93-917b-6daed77928d4 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2791609d-224e-4148-b1d5-caea850f61e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:71861e54-dd94-4eea-9ea7-bcc4abb4d9e7 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6130af23-101d-48f7-a06d-167984bbcad2 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:68b76647-9bff-4a5c-b334-63b17e25168f phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7abf2b7e-0f0c-4246-8894-3f395e71fc46 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:73119579-21a4-4227-9d51-9c9b83e9c7e1 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7f17f18a-6504-4e50-8e34-87a1e13a8432 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c2bbc9dc-82c8-4d45-9022-88a9f52f0c74 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:29138248-17b2-402f-94d8-032962c3fb85 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:73697162-11f2-4894-ae9b-698ca955c10c phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a86d34b1-e1ad-4423-b067-58eb0f9a545e phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1c41f008-744e-4d05-9475-e5d79c81f07b phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6388d050-2b93-46b4-8718-2902a453f9f7 phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3c495dd6-c017-46a6-992e-9d9750ec5d2f phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:5fa1282d-58e6-4ea3-8948-9fcee71aa043 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:cd5bb45a-e7c6-4208-bc01-6df647a74d8b phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:749b44f2-5885-450c-b25e-e7ea0e3903c5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:71f9d98a-4178-413f-9378-5fadfdaa7c53 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b431fafc-8040-4e9e-8917-5b8417ec1f0d phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8e5e43fa-4829-4b3e-a9d5-2ae3f8d22f67 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:85daef59-b8ee-408f-8900-5a5019b90af5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ecf52a09-c6ef-4c37-b63d-9ecf34dee425 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1e13e5ec-4898-4b16-8aca-7b7bac677953 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7c6f4f1f-c5ad-427a-8bda-6eecdaf252f9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1619279e-e41f-4230-8d19-be0b0cdf4dfd phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1af8d357-5dbb-45f3-b80a-5c0af3ccce88 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0bf39cc5-8d9c-4a1c-b137-ccec74e308ac phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:469b2ecb-51e0-4adc-a8d4-a035cef5f3b0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:902f7457-5c2a-4b22-88e2-a23181252c0a phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9fcb9bdb-29ef-4320-b889-5217073c9e32 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d3d372bb-90ba-4b5f-a60b-5d001dbebb94 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c98fd2e4-9396-4479-a424-47ea64655d70 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fd9091e0-ee3d-4e09-b620-68b51f8af3fe phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:226cf380-3472-4767-8729-e0ffcada2926 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:36d83bae-fd9e-418c-ae20-7310594dd5a0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ad617f1b-1afd-45cb-af3d-8a5eb556510d phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:11295239-704a-4a3f-bcf3-96cda0c6a6dc phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b66ac454-3adb-4206-9dd2-9d9313ad7e8c phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:96f8b833-1264-48ab-88c7-a566422e8d19 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:46522f03-9683-47a9-b683-f58dea56d0e4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:771b93c7-0c95-457a-b880-fa7748fbaff9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5452bcd7-36c0-40a7-b592-0c533631517a phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:be981847-eb19-473c-86de-7b92ced3c3bd phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b26f4f91-0187-41f5-8ff0-bad66f710b9c phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c8c2ee4b-07a9-48de-942b-fa3f9e74bdb7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:df3eb3f7-0450-46a0-bca3-7ad81f7be981 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:44e7756a-2962-4012-8703-842597d598fb phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0b8ea6d1-80e7-4daf-89d6-e78cb7675016 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:ca196376-5fd6-456a-916b-ce15887038b0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:315a5e22-096c-4a6b-b744-c9d1072e2c1c phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:1c0b7b38-ba28-4c46-ac94-c201ee3e7dfb phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:9f997842-80c4-4edf-a9aa-45fb5db12a7e phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:1a97327c-7eee-4870-8d91-7d74e3fdabc6 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:56776c75-4a7a-476c-9fb0-2b5790e2e367 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:041154cc-be25-4870-9561-69564ff6107b phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:b72bcba6-9c4d-4fdb-a2fc-a25c1e0e43bd phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:8018f6c7-6650-4bec-9a27-efbf064b4998 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:56531224-f834-4576-aaf4-379030faa095 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:da5c616e-a469-4869-8334-76f40b308829 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7f203a9a-566d-4d84-be80-6f866f8764ef phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5f06fbc5-fd2e-497f-a70b-af2af0c913ac phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8f0052a1-c724-4f73-97ce-443065496fdf phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2be2e8b7-ff60-44da-9916-9a05a5dbf737 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e6beb31e-60c3-4987-9111-bff5c31a08fa phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7addecdf-e903-4139-a427-cbf2d2979cbe phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:86ba0927-e517-4a6d-a394-adfcc17b0e4e phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d340d812-5565-4b4e-883b-0af67ff5b6e9 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:479866a0-3f7e-4e9a-b9d0-ecabb1ac4be9 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:c5ac11d8-1787-4fff-8fc9-e0f2b874661c phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:487a5926-2bbc-4484-8a75-ba0eba855aed phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:37843397 uuid:ce016cb4-2442-4dc2-8b45-4a4e68ad34c8 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:37843397 uuid:b8fa22db-2fa9-4a2c-98c8-03ba8bc625e4 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:255e705f-f3b1-477f-a68c-bb4451be2462 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d49f147e-be35-4432-829e-d7c44d01d397 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5d5ea2b1-5fef-4e68-80d9-05a37edb4ff3 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8a04400b-29a7-4d99-9f9a-08f841a1edba phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:59e6d522-793f-44cd-ab10-410a04feb233 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8df6efc3-2bd1-4e33-a3de-0d9e4dff115b phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c4b4585f-d160-4b70-86e4-03b5009980a0 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:97d74019-f211-457d-851c-3da837f9698a phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e3b3d171-4b26-4b57-bc50-9a492f95f8e3 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ef51e0c0-1210-480a-9258-4f0782d81afe phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8f7a4e45-d55b-444e-9bea-6922bb01b6a6 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1fd8e860-e8d5-4d8b-a097-3c88a0dda3f9 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:80ec4974-85bb-438c-b12b-8056a25511d2 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1f64f340-8a9a-4f19-b758-ac407b202583 phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fe389a19-0b71-4a10-80cc-f7c9efafdee9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:10939567 uuid:7cf1ea3e-ec0b-4eea-8dd2-92364f1beec5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:05fd14e6-9cc8-4cc7-bdfd-3b10f7bb83b7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:06b057db-1373-418f-ad79-ac32cdc9e141 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b82bad01-9e2e-434c-a950-64affc7a2a28 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c92d1227-ebe3-423e-b987-5c6fb3d90c02 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f3d542af-f047-429c-a5c5-e5cff76b5446 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:92dc41da-8f48-4a04-8cc9-e7a310f527d1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ed4bb4cf-eae7-4126-8d73-94037377f9d3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:eaa146d8-d564-4cb2-abfe-6d653b3209f6 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d6f78f89-18cf-44ec-994c-c5cfc245725a phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:59e81905-de02-4621-aa8b-4ea7e9ddda61 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:36c07d82-7b19-4114-b16c-39337dcaadfb phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4408f663-ad7f-4218-8d51-40fcc4843eab phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:61ef479a-df23-47ab-855a-1bea6e607674 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4a6e2180-43ea-4b9b-a4fb-89197bcc4e30 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:411ae88d-c257-4fd3-8a85-ddf12eac7429 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d92c8355-8888-4608-95b0-689b574212bb phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5f49c9b4-7753-46b6-81bc-b005e5768e17 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1189d830-06a5-4352-8b14-b26c8774c05c phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:adb701aa-7995-40eb-9cb1-f15c9f8ab360 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ba27a952-dc81-400e-b271-c9d5b493b00e phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2f61c203-8c83-489c-8347-5560a899bae0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7c907918-2a1b-4b30-9f1b-44e98675e9ba phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5cede79e-3737-497f-8d95-71d274095d30 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3bfc0a35-b2c8-45d6-8aee-8a5f3f3c9d46 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c745096c-9ae9-4751-9bf8-963c02f85759 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:78487c97-0b23-41ad-a841-396f8e7964f1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ab73c08d-5647-4a81-9d1f-384671d28a49 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2953eedd-5d93-4b17-b798-81b923001e21 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d6829483-d67f-4d69-9635-e8e04cbb683b phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:10939567 uuid:6f5b637f-704c-4782-8dd4-4cff5a1b0be8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:7ad5e06f-0928-4572-aafd-b6e5fcef510d phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:10939567 uuid:d8753023-d7c4-4598-80d2-b17a85265bdd phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:10939567 uuid:d43d0368-9351-4184-9f30-5c4b272579da phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4e565a29-6c13-467c-ba78-5336f4ccc514 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f1ae1c98-2e67-45ee-be79-cbe42a1485ca phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f56f60f8-58db-4996-b2c7-36269448c6b1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:fed3bfe1-791c-4fba-b4b2-6267b6f97692 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1de54fee-74e4-4667-aa66-0957cec9f742 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f033531b-ac75-425a-bb92-b119d77d3e84 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3f29c272-440d-4504-8542-64b77655ccb6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3c54efed-6c6c-46f1-b404-5703bd31460b phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f70e921c-8473-4992-948c-4465df1500ad phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fa3bec43-23fd-4ebd-8819-cc4ceb99dbe8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d7f92157-9863-470d-ba03-6cd11f3a1b18 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:52fd0f11-a4bf-458d-b09c-f84ce33f0c1d phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d8aeaf2b-25cd-4999-b2a3-de9cdcc0cc22 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:82471810-b65d-49b4-85b8-2221979dcc2d phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2911f529-f592-470e-8faa-baa7db8e1e7e phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a598c246-6b5a-42dd-83d3-0e3081137a26 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ccf43bab-57a6-4d9b-802f-531bd8192867 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b21a78c1-b9c8-491b-ad20-1ba5ed7713a8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:56c475d8-02a2-4614-9adb-eb3a89a369e8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d219fbd5-2fa3-4ff0-837d-e3f3928a9e18 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3be2f23d-c7f1-4fc1-b20f-849f8f316267 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ae34ac37-ee77-4528-aa97-b305194d3bff phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ea829351-f7fc-40c6-892c-570bf9f77ee6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b6805443-e84f-452e-b8a5-409782b1023c phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2362f2c9-7c3f-42cd-930c-d035c4f51cfd phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dbad25db-fabe-4f3c-a40b-1563a1f188fb phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c1ad881b-058a-42b3-a2ba-e193bffbd199 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dafc7739-edd8-44c4-a0b5-f52508383b82 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:203545b2-4c72-4750-ba85-3e441a21c91c phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0a791b53-ad2c-499e-8153-c27a901f40f3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1e0a55cb-bbee-436b-a742-1578f1388f5a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6d778822-cf15-4af7-a330-1c09eff1209f phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:10939567 uuid:17a55623-7496-442b-953c-3189c44326d7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:0dde4dc0-8544-4c13-a972-8eb3d6a9e004 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37843397 uuid:cbd73b32-ed3c-41b0-8401-6bd86298edcc phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d87d651c-deef-494a-82d2-edf7e9142d5e phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:42edd532-2c0a-40c4-a295-dfb21785c751 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bf6285e5-2aa5-41ff-b7e9-ce5fae09ef06 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:726e7f61-e556-427b-9dcf-d2554b560473 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:aaaa4fa5-ecc6-451c-856e-5420f426c613 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6a7708f4-96ef-4c2a-b63e-aed51754d4cb phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:12717281-40ab-4d5d-bb95-8351b3ee3880 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f8cb0ba9-dbbd-4a7f-aa12-580d848a8c4e phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0fc37a06-82c0-4630-8234-e963121eebb4 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0d894eb0-6ef1-4b2b-a947-4882f84614a5 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a04949eb-74f6-42c2-b75e-beb4ed337ef8 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:63527a2e-7306-41ce-89aa-55768cdda1fe phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5aebdb5e-f75d-4117-9017-5f8bc380bf2f phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4e708a15-7eff-4034-bb8a-7a8c162e34e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2a3be23b-21ad-475c-a7d8-7758f35879f5 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1ed593fc-4d7a-4fa6-9a88-b3638b0b96f0 phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:571d73fc-12b2-4055-a92b-cdf8869aa4dc phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:37843397 uuid:722a7c21-5c82-4064-8103-e3655504e361 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8453b3e9-5127-492e-93cb-42681031134d phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6cb93d82-42cd-46be-8d23-b6532c7fc156 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:269ef414-3a3b-4a37-a086-eb1fedc09925 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:766136bc-b2d9-4363-b4c4-6a639f77f6d6 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:39f1a11c-3245-49f3-840b-59c5adff8be2 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:27e5a6e5-b915-4c21-a551-b7cea945d4fa phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1fc4717e-c108-4340-8273-fb21193b33f3 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7e0131f2-d42c-444d-b2f5-f0e73594484b phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3ea41e48-ca4e-4914-bff2-eabcfab21f5f phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bf3e196f-aa78-4e06-9039-ba5aecf5df86 phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:65d14503-2b6b-4bfc-aa81-5d90fc0eca2c phenopacket.store:LMNA.PMID_37843397_TR36 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b222e221-de52-4c1f-a3be-3495361a76bb phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:647db16c-30d6-4ea4-80e6-c1a3e92e527a phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:cfa576ad-09f3-4752-a515-899170920139 phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:def16dfa-9797-4e71-89e9-353eb57108fb phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b242edc2-62f9-4ea7-8ef5-14f83ce53e7d phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:6f59823f-45ad-445f-a0ba-f265a0f255aa phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:93791de1-b61c-4235-8c81-738745886fdc phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7ec7f7b9-ee93-4ddb-9de8-3f5b4758adbf phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:620ca117-95c2-4c99-af97-fd1f7fe4ef0d phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:6fa76ba6-e22d-48df-90c9-5777a2f206c0 phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:039c390a-08ce-428d-a0b0-6cb9c1152733 phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:824a4805-17cc-4f91-981f-3c85b0399344 phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:bb580dcb-5173-4147-bcd1-b2db1a3b2d4f phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:95e5d1be-7bd9-4dfc-874f-e8fe16f0e9f9 phenopacket.store:LMNA.PMID_18551513_13 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c7da3272-c17b-4427-ba55-32992a200c59 phenopacket.store:LMNA.PMID_18551513_13 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:7b3aad2d-f4af-4e76-912a-0a812fe55dcd phenopacket.store:LMNA.PMID_18551513_13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:279de8cc-ade1-4614-93b0-7a9dc29bedf7 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:37843397 uuid:1bdc4387-afb8-45f4-904c-70546b02b611 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7ad31b9b-2cac-468c-9e6d-c867c035db34 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3e0415f6-0499-40d6-83c4-5316e848f053 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:52c14fa9-1586-4178-a046-8f3193d9e44b phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7bda9b1f-8b91-4541-ab92-771f35848c55 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:954eda3c-6fa0-4dea-b064-5053582acde6 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c4ef4313-6761-4c83-aeb0-d1b19bfb6c0b phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bf11bff4-27d3-4a90-b8dc-0d75340ef0c7 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7870bdc8-c4de-447d-a4c0-afe99cea0eba phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:42b9c3fb-0007-4745-9549-499b65908014 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7575a078-44dd-408a-9db5-7cf0d9fd7df4 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5ca885ff-8358-4c71-adbb-a22cb289bb3d phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a5fbe615-e7b3-4e4c-9050-ed759470a24a phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e10624d5-1df1-410a-a3df-27c7db27e0de phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bcbf9f78-8008-47b3-a4f2-8a6ec5b66f49 phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:faaa6fd2-39d3-471a-87a7-beb1a9a257ca phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7b65d08c-006e-4315-bad5-bced2b0f83cd phenopacket.store:LMNA.PMID_37843397_TR35 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d6373d00-0fc3-418f-818f-66d15bef56dd phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:81a53390-a047-4d1d-b6c3-9b401f67caa9 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:f64b3498-2856-4c0b-ae9e-de5f6e02ba13 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:19ecb2d4-80b7-4f5a-853c-ceb90216b3f8 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:bc62ec04-94bd-43c0-8557-1027e60a93f8 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:dafbfeca-bf38-4370-a9e3-5633858a9839 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ebe7887c-fddd-4244-a84d-72a03b858b55 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:552f035a-53f6-43b8-8cdf-1e3ea866910c phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b13cb44a-70fc-49ad-b4ca-6322dcef91d9 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2fbc575f-0a8d-4897-a3f9-47f5649042d5 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9e9b9815-3c53-42ed-b806-534c47aae9ff phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e8a43798-3c41-4b51-b580-3dbd64268338 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:022e6d9c-53bf-4c30-92fb-94767f077325 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:10580070 uuid:55717d1d-bdb4-4c23-88c5-7e0711dd5247 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:28e9784a-da98-4bc1-bdb3-de16a51c1ae5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:10939567 uuid:928758dd-87c9-457a-b5ea-344a75a34ace phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:10939567 uuid:f6637327-f7d9-400c-8f0a-f590897104f7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:aeec3e49-3475-4cfe-89a3-ff1c91a45df2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:695ef180-b08c-4d53-b182-c61ab13329f9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2fc8e664-cfc1-4415-a358-2077095d968b phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:81b9d4cd-fb22-4740-95ae-a10e56a6d9d7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8236c3b2-c046-48cf-aa71-823cc486346c phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:94da684c-2afe-46b8-9104-b3b512117467 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ba4e6e80-79ae-40d5-9c8d-955742bf7e6c phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:11f9306e-16c9-4bd3-a51d-fc9b33fc4427 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:eaa573cc-dfe1-438b-8664-4414fb4b4078 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3762ef74-9fc0-4ae8-9f96-759f921dfb63 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e237fc77-c123-4576-b0e8-719e55388874 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d3c2dbe8-eae7-4bc9-ae6e-6afdb64c9bf0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:645bf1a2-5eaa-4856-bb87-00fcfa0f87c5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:beb5a502-b251-4a0c-a1ae-d1bcb0af3aff phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e0d9fd38-3436-452c-a373-d29e92678e3b phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:82a9aef5-00cb-4ab8-803e-fb701228a501 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:552dd0aa-2285-4b7c-99ff-33b8b60dd04f phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6b675d0f-f5d6-4c36-9fb5-0e3778090414 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f510f355-3a88-4750-b1db-0c728ca2ab62 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7970802a-57d0-4629-88fc-2d7234552a9a phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f6b62bba-9586-41f8-ad18-e0998b18a72d phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:72fe096c-5c19-45d9-93dc-3a15f683bd51 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b25f2aba-5374-43a7-9c9c-0dfa0bf3dd41 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fdf6f7ef-df36-460d-a350-97214f3bf6a8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d4ff404c-7160-4b9f-b368-c34d0a034786 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:79fcc662-28a9-433c-8f5a-bd94f7ca9361 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:092b5e5f-bd15-468d-b82e-a78a4f1d6dd8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:76a2c128-4460-43bd-832c-c670b2710dd5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c52da7c5-8e90-46c3-9508-6f70a63b0f80 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b561fde9-a82e-4272-876f-b046312b5d2c phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:10939567 uuid:07b4f8ef-b2a9-437f-9280-e3a1081dc780 phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:ddcddf57-47bf-4889-a958-3e32e9648f0f phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ac859db9-f734-48eb-9063-95b58aebed20 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:349e1fb3-4a04-446f-a0b3-b78440612a4f phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4b085a62-583c-4638-a0d5-9ab3d4815296 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6c9518ef-b989-43f7-b9b5-7234fa10c177 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f99e98de-38d5-46e3-b420-4e1fbafb4bd8 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6786d6c1-bbf7-48d2-8b94-4b72f4a9de65 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:82621965-6fe2-49d1-ae0f-15bbb0111624 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c91393f3-22b4-46bb-a368-ab3e89f2e51e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:956e1608-46c6-4395-b3ed-9b0dc2da9820 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f18771b3-b5d5-439c-9dbc-262b62e87eba phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d34defcb-78d6-40a7-b734-6c1185d8a4fd phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6ab9714b-99db-4f8a-ad2e-fe625d6d87e3 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6614bbbe-936e-4784-a2d1-72bed1c2afd7 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c5897ec8-0664-47eb-9422-5c6d59c6c7ca phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f948dbd5-28b1-426c-83e9-e8abf7ff9f31 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10580070 uuid:1231cef2-b528-46d3-8515-3063d0760575 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:08946298-ea5e-416a-9d27-fc92a1612ac7 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:dad5e0f4-6c41-4a36-8efe-584fbb91a108 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:c1267546-0082-4762-93f4-944e18cbed0c phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:03766cff-b66e-41a6-9e97-9ca5bc855164 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:d9d5fbdb-948c-42da-a69e-47ad30314955 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:838065f5-b317-4754-ab9e-94a2092ad622 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:da0b89aa-e651-468b-8bd2-8cb87a102c70 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:488f5851-3b93-47b9-a3fc-44e70fcbaf63 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:f99a4d74-6930-4a68-acd0-3a9aada81720 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:26893f12-614d-4971-ba31-d7e67ca7e2d6 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:15885b25-69b6-4d12-bc7f-b1e31c83dd3b phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:4f7b9f02-f615-4fcf-9802-41951ab60715 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:990ece69-7de6-4f61-b1f0-737f687c17f6 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0000991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:075ad9e1-1c1a-4a77-b4bb-e7bcb9bdcb86 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:39243193-7172-452e-9205-2b03f82c3652 phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11344241 uuid:9d072fba-d442-4bba-b90e-a9396f632dde phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11344241 uuid:b94bcd8c-cb0c-4c62-90f2-0a903e7bc50c phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11344241 uuid:4f84dc32-9600-45fe-a26c-cba1106c3d5c phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11344241 uuid:f300e696-34bc-46fb-b163-0aea0368b940 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:37843397 uuid:9ea815a9-0082-4bfb-96f5-c7adb11eb3e9 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f15ba240-4d58-475c-98fe-b6361bc377f4 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d96eb425-2847-4a45-bae9-75a9d8726b19 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9a1c0a62-dab5-4c27-a51f-0f21a09bf52b phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5c987263-71fe-46d0-9e1a-bee9700b3cea phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b8139100-a597-4b42-8f74-a8b530ca5eb4 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c682b5bb-b96b-4b78-8c70-0bafbd6bfe38 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e3e14218-bf75-4eea-bce2-dfb4e6624812 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9d57b61c-d983-4a30-a02b-a818b3a80399 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:63c85a78-6721-4e57-93dc-e53f4d779e85 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:839ed485-32a4-42cf-96c4-3cd986c89da5 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cff48d1c-5da4-4e6e-a018-2cfe07bebf30 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:63feab09-217c-41fd-b4d4-864dbe0a60ac phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:787924ae-3bf5-44e8-88f1-6c4ff4b1baad phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4fe268a9-b41f-4d14-84e4-341c109db0e1 phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8d1ff5d7-39ea-4920-b9b0-6d9db80c323a phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:97b415bd-a4f3-4872-9e7e-2b0567f7f88e phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:074387f0-07b4-4cbf-b490-4317e1f12596 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:ca7e28ff-7730-475e-9158-4eba2ac8fb41 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bf53a1d8-4d3f-4789-8e83-f26ad82bdc57 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4f23ebdf-150e-4a1e-8fd8-534b4a3c3c8b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e1892938-26e1-4b5b-aef2-b236c36ed3cb phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:88da21f4-8cd9-4dde-a443-88b13e099ea4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bc3da6f5-7238-413d-bff2-a8bceff895fe phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:096596be-0751-49d5-904c-b0c9edf81e67 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:75c438a7-07cc-4e34-87f3-945396d6d808 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f7d70111-26f7-47c8-b92f-6bfaa81772d7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1a6b93b2-a68c-48f1-891d-c195645bb11d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:96b7c6f4-e509-4896-a481-7d17f61e086a phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5b80b457-4cab-44d5-8afe-c8f1fc82f850 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:72302864-767e-457b-b425-122b50ce92b9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1ef3a77c-6966-40c5-be8e-f2980c263725 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:38903a0b-79e1-427c-b83d-9bbb7bb6e8aa phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:635b7f7b-2971-4435-9b74-e4b23be934e0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:183c16eb-6124-4e4b-86fe-1507197db78c phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4e4fa8bb-27fb-4db0-a826-abff4b00b5be phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:57f1bb33-5b91-4485-841b-094e8da6bb80 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ebaa1662-f3f9-402b-a26e-0661357667f2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e1e99c0f-5df8-4f74-a8f6-970a53878360 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7684782a-a4b1-4477-92c4-8b9325e66823 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:52fc2e45-e6a8-43df-9241-5c82704ef90a phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c385706a-40db-4a04-8a41-bd0cfccba54d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a5161b91-da4c-43dc-beaf-7eb1b59323a0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:95b5259b-1898-4f6a-b874-3fbdbc2b1e0d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9e68d5b5-e736-470c-8616-94a50bcb7e6f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3e192ab3-697a-469c-9f7a-0e74442de14b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:16e7617f-1dab-44e2-abf1-46cd2a7e7469 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f5ee1057-2519-4148-8ed5-08a624e7995c phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a8fb2176-5410-43e9-badc-54b71903d16e phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:74a4583d-0b73-45cd-ab64-9629ee171d3b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:c8751b49-d651-407c-9a76-e5fc022e02ae phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:f71905c5-bc24-42b4-8a22-44b3b8c89780 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:50802423-57a5-4f08-ab0d-4aa269be6baf phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:90a724d7-dcf2-4248-ac36-f274c3fa234d phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:aaa8026a-1472-4830-9da8-507b50f5aa01 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:962c2392-ec20-4dfc-a008-86aa6690c845 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:14ab4628-1eb4-4b3c-b92f-f0e7df55ce97 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:bc6eac9f-3523-41ef-96ca-4d7be978cdc1 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:321cc7d3-31bd-441f-b28e-6472e6766cb2 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4c93dc3f-5b32-40c5-bed6-6f5743bf345e phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:31dceed7-0a4e-4603-a2c2-a52620d87997 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:91232946-d3b5-438a-a475-d67eca1cc4a0 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:591333f3-0b40-43e6-a0ce-e3f89622b564 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:476888f8-e0d7-4090-81f5-744d58c05be1 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a99b34c1-e3df-4702-8fdf-569bc7f71a6d phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:10580070 uuid:b96568b8-c041-489a-928a-b1a09ce2ce28 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:574366c9-71d5-479c-a7e9-d24cbd987638 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:afa7e220-fb4e-4987-b8ec-8a045e4906f0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0f4a2735-8f98-48f8-a0e7-61d06f385254 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ac2e24e9-6c3a-4f35-9b17-642e99429340 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f29423a7-6c41-4864-bd2b-9c340e03e544 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:84483a56-a09a-4647-bfdc-f1c6093e2c98 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6a288c64-8304-4a8f-acbc-4bbe616f0730 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0dad3bac-a290-4ab8-a2a8-7abf56e3548e phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:42a9a6d4-cd14-4198-a3a7-430a63d29b23 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:01ee51c7-ca4c-44a6-b3d1-06cfb59d5849 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:daa35f78-f57b-4b4f-a7f1-e8cc8eaf2e2b phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ce746a68-3b97-4602-be48-dab36123e916 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d8768e68-88bb-4493-8455-1a5fba2330e8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4717d743-f078-4c74-8788-01c037bbc5e2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aae556ac-6c4b-48f1-b429-f313b0b82bfd phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0a0f46a5-eba6-4321-a7c8-c28ba179704a phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:903184f4-5130-416d-a94a-7000bba0790b phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:19cae5f6-9fba-4b37-bcb3-ee64f6a902d1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:76d68202-1572-4b8f-b5ad-5778a72e05e4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f7ef5cdb-9146-4b51-862b-0a621165faed phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:08d82f7d-e9b2-4d53-b44f-6f58b7ecd7ec phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8b137e0a-9e3a-475b-a1ae-6c17a6992c68 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:75f91ef7-4c75-4729-81c1-aedf7d4d948d phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:447bd4c2-bfe8-4114-b8d8-2769af0bf119 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:08b0c382-f078-403b-ba60-ec5c252f4750 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0ffddc98-65fb-4734-9fa2-c5aba505a5fc phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:326a2327-937a-4cc6-b9e6-55379cbcd374 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b8c5cdf3-be48-4881-9c39-7aebfb1af657 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:962989e8-ec6c-41eb-9823-83fd6547f50d phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9930b84f-4903-4c8f-9605-0c4b141ad310 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b23b02e9-6e78-4ed9-a768-b70467aef8f1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5eba02d1-b97d-4311-bef5-cd1d73e9568b phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:154a1d0d-3d60-4873-9e24-a1a5ec3d2b80 phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:10939567 uuid:43083b2e-ddb6-4ad9-a56b-a738716129fd phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:df154fb5-6899-456d-b522-c1eb0e129a9f phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:37843397 uuid:77a59a5b-a38f-4c20-8731-90329f6bbdfe phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a9f0468c-f822-467c-814c-9390fb43ea09 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:01cd6adf-55dc-465e-83b2-89c05edb10a5 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cd6cb65b-ca73-4889-8caa-815462ffb396 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a3b90294-a704-446f-b538-3eb70a6f6f88 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dffd61fb-80bd-443f-b4ef-72d86f91b0f9 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:737a9542-5269-405a-ae3b-d5f7ef5f74a2 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:aac9e61e-5128-4ef8-beb9-6f3244516f6a phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:db82bd17-d56c-4b81-9750-1d4c2c11fd6c phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:94210a51-d25b-4632-b4ee-db76942835e8 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ca73c97b-e8ad-4838-b338-97c8e60a6584 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0ddee35d-18a7-4082-8487-5b491beaef00 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1dfb059a-eff1-477a-9efc-a462cf8612e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:36d82f58-23c8-4e94-abc4-de77219b1f88 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e05fa123-860c-41cd-b072-9e7b5f5ffa7b phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:88cb9a3e-f17e-484e-8da9-fa9c4bd1306d phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:02420f8a-fd89-4aa9-912a-29f27149dc20 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9d687697-936d-4760-a854-44c2b8b409c2 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:46324788-2c7f-4d2d-bfd7-e29a28b3baad phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:68791c61-afce-4ff3-a3dd-f3433a2e761a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d3714a38-4275-4f16-b464-03c904b6972e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:50109fb2-4926-421b-9243-b2a9380ca666 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:90f91dfb-cd1b-4739-b432-dc38204a621a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1e95f142-f52e-42e9-a5d5-d584d98b3b4a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:05fcf5fc-d47f-4da5-aef1-497fd56f61b5 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:07e8bd97-7dc5-4a55-a11e-dc9753b112ea phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a6a8e760-92a3-4b89-b9a8-6fb5c104762a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1b1d9cb5-d107-43e6-b87c-89c1054afe32 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:32ea1091-2856-4ba5-9b0d-d16b71aae98e phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:89787d1c-4984-4815-a6f2-b62d0e29aa12 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:258fd355-974e-4225-a09f-090cf8d69d1f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5e7111b8-42bb-4894-824d-a6947b2933af phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:09a23b3f-a350-4290-994d-c05399588083 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:10580070 uuid:ef233f55-fce7-4c80-984f-ff1f063136a1 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:120aa35f-0734-443f-9bed-42fe9065560c phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:10939567 uuid:33148d4c-c9b4-43ab-a5b0-ee92f495132f phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:31fea899-63f9-4578-98af-1724196ec064 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1e4b86eb-b946-4b2d-b44c-2509fa543281 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:df5138e4-3202-44ba-a094-9dbc01b0c505 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f373294f-fc4b-4ac3-a785-0b66a4b2b8db phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:78f17415-7544-4a6c-a494-f5646d3b783c phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a7dcd81e-3058-4eb3-b406-83e7815b6622 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8a30704a-0e77-4025-b1d4-2f3bb1e543fa phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8d4b3698-31cf-4652-9369-5fa0f43a88a5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f0978ffd-8a5e-40c2-9709-dc3491a67a50 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d884ed9b-0700-4a71-81ca-26ea7c272d1e phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5ef0407a-fbb1-49d1-ad74-ced160175577 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8457d440-d2b2-4244-89dd-fbc5ca2cf0bf phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:96d345fe-a4b0-4ea9-802c-c8d0a2fb69a8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:33954775-a86c-4649-8392-e9cae1e9a41f phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cc35e3e7-f667-4c3e-ab45-776aa3c908d0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e9c6d550-d060-40fd-8280-7171282fe073 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a057fc15-f1e5-4831-9a5f-3518cd9d5f3a phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:be187597-b748-43e7-b7e7-cca4eeb344a4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e63c11b4-6118-4b7f-9575-4a706b554515 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:668a3262-2c09-4919-b61c-2bffea682163 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4ee49026-163b-41ae-a74e-fcd81ae5091a phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6138bf8c-b100-445f-a9f1-f6a591a53657 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7359f637-15d8-439a-a211-81283aaa137e phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f7fd069f-aa78-4ba7-a0a7-77c6dee06d57 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d92d3846-4ab8-4b8b-bbef-fa5b764979bf phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ce7d159d-c394-49b5-8b3e-8d1f9eb7362b phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3c9e7051-fce0-4733-89b1-7a61ab660eef phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c927bdcc-6076-461d-8a5b-af99fb081d15 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:57acf251-19c9-45ab-94dd-97da36d66504 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:03ab882d-02a9-4f9f-8698-4b40d878bb74 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2ff52088-d2f8-43cd-8204-4cdd81ec461c phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:93866a51-ecec-4751-a954-7b82bf119cf9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:10939567 uuid:60f4efd6-b656-40c6-917f-4d97add41645 phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:4dd258ee-6fc4-427a-933f-e584d379f920 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:10939567 uuid:705ff300-e3c9-420a-9f4c-8c2ca28e27b6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:10939567 uuid:59796ad9-cb02-4753-9851-9b7886c5cc1a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bd803580-90c5-4865-b823-b29d5c4c2340 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1cfc2d46-58ef-43cb-80ef-1191cd067b7a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2074d621-9035-4363-b706-5abd7373287d phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:96c076c3-a77b-4a59-ac6d-1b2fa4003901 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:caf82991-052b-4c6f-a6c8-e4c9901d24f4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:911d1281-7f37-48bf-85bb-f625e59dc64c phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:38f28e30-fe26-4c7f-848e-9d6aa9e40769 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d77af9a5-66dc-452c-ad86-cf55b9c4ca24 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d1b9d120-c24a-484d-823d-087c80d60805 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3909f4ae-9dbb-4d5f-8493-99c5eedee92d phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6f4ee209-b89e-485b-8afa-375b0d81089b phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:85424f6f-a491-44c0-8054-6574ba6b80df phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ec9d8d54-4c6d-40a8-bdf7-1cd0971ee5dc phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b85a2e1b-ecdb-4209-bec5-7e2e911ec4ff phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7a22b473-7f30-436e-8f47-7d34ec1b2c20 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:986e4b87-0f92-4c58-bc9d-f21dda7d4eb0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ebd6c514-bf37-47ee-9cd6-e71ef6a0d33c phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aaea19b0-1433-4c25-8ab0-0f4a28d039b8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c7c333ac-1873-49dc-ac3c-87d1f692e358 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:998e6092-8d52-4cff-a027-fadc5f188877 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:52168a83-4f07-4f42-bde5-4b427404af8a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:befe876f-c6aa-40d9-8557-18e9e5859146 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e7b94b36-a341-422a-96f2-d33e964b1f7e phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ff82c4dd-2bc1-4d50-85c0-77ae60f12916 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a256fd84-a7f8-48dd-bc8a-6e51c0d9efd0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a217a5f3-ee3d-42a2-868f-48e0bd46d34b phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:944c39c1-7097-4007-be20-0771b56e254b phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d11f4a46-3dfe-46f5-97cc-2fbfd87e12ac phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3b7ed7bf-8a81-46b0-9303-6f046400217f phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:10939567 uuid:c5dd8572-244d-43bd-8366-440c021f4ef0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:f4573ee7-a78b-476e-81f2-284f0cb7164a phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:361d7070-a035-4961-b29c-f896102ddd62 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a030ae91-92b0-4478-8192-ee4e376f6d63 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:96287018-6e0d-4f69-8a72-33c4a3a655ee phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5ffe02e8-639c-49d3-87fc-f5c4063d7253 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:221bc366-e738-4043-af81-9438cacfab65 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:343b61a9-979a-4d3e-b593-964592f01ef6 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7d8b2a14-ac8d-4a3e-8785-982e85cb0a5b phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:05f2ef6b-1781-4452-9525-614a3f8081eb phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:37c86943-bf1a-4849-a1e9-594a531fd2b7 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:985c8a02-3fb9-4d61-ba41-0971708b8924 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:141196a2-9ee4-4553-ae29-09f4eaca5a46 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4dfba686-b9c3-43db-ae68-b301aca9c0d4 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2f0f0ca5-4b5a-4ecd-8f01-e94bd8cec120 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b4198eb0-2196-4a2f-9238-3788d755b8c9 phenopacket.store:LMNA.PMID_37843397_TR12 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:24928c9b-ee14-4d5c-ad77-ccedc55f02fa phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:3706bf7d-402b-45e8-8913-8605ecd1cbbc phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:55da7cc7-e370-4ffc-a8f7-b2a920998ae2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:324ba7e6-56e4-4fdc-a16a-0e0b5a6d35b2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0b1d491f-c592-420f-a95d-7d5e6fdf2234 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:edf40645-45ab-4749-a6b7-14ac2980b9db phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d3161034-40e1-4943-82b6-c4d6c2a39722 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:3af18a05-d938-480f-8f4e-79eb8cea162c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9e3a2c02-1260-49d3-807d-7eb5930b1ee0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c480146b-f246-46b4-985d-cf026c1bf899 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:246a085a-9845-4e8e-b3b9-64a6e69253f6 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:69c46a3b-fc31-436e-9f2a-575e29931b7f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e1243b7c-14ef-4894-b60a-35cb097ce341 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1e610f8c-745b-429a-a1a8-f24015557071 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:17a6728b-2bb1-4d92-8053-b607441fab5f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d6a7d3a7-5bc0-4548-9c24-2587b389c47f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:b00b8ac6-ffd9-4d54-8ccf-3802bcff1554 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:59cf964b-39de-4681-a7a3-d56d58abbc20 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:954bea82-588e-4424-b5b5-1dab1fa4020f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5eded0aa-9806-486f-82fa-3ea94c5996f6 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:a6f3f413-792b-4bc1-b51f-29f67ab42843 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:845c1e8d-79ca-4cb5-8cf8-4613d253fc0e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:0d33997f-5198-44fe-9c47-a946e082ae79 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ddd06435-945a-4c8e-ac4b-fc3d6a4b67a4 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1c5e4014-ca3f-439d-bb43-9b22ad37cb25 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:56302e71-78b6-4ee5-be61-731fbac5dada phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:83159f12-09e4-4da2-bf52-8e1781b59628 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:aa089f7b-4e10-4559-ab91-d9cb6c1b6c6d phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:453e8c64-4b3d-45de-9c50-8dd1be4e4f39 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f1e24276-b7d0-470b-9863-f9f329c63dbd phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8ab1829f-d276-4272-ba17-7f43bc0d26ab phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:40e33a35-aa6d-4981-8344-4e59e316f1e9 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a9895e2c-96da-4a2a-8da7-7bd2b1e5fc3c phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:61beadb4-7a71-4090-b8ac-109a157391bd phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ce283a33-1e1c-4de0-8b91-3a594f9f0bf1 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cbdc3777-1f7b-4a17-be8b-cc1fff0a5eca phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:df1b227f-6b1a-4804-998d-7c05e1613664 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:10580070 uuid:184dbfe3-1913-4ae2-abc1-a05ce832f791 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:53bb7ff5-f740-41a5-a15c-84d84443be77 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:a40bcde0-f88f-4e19-9c52-fc836fe62e9b phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:82627c1d-e8f9-4824-ba32-8a309651bf5c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ba2070f4-dcc1-422b-987e-3f7c51f8895a phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ed73618b-1659-4eaf-ab90-13d7d84bea4c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:01aa558a-3309-4da1-a459-42ad51da5748 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5e531471-418d-4390-b04b-715e2752a470 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c1af67f9-b908-4317-be08-04941e2e5366 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f006e2e9-e6cc-445e-b4b2-a03efa46a1db phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:96066a3d-3872-4345-b563-b533d2a1e339 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:be8b2338-0ecf-4718-b5f9-b4b18ecb8b65 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:26f8e3ea-8e43-46a7-9d91-1639ebe29ba2 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7f4c3738-595e-42a2-90cb-07d46eca6a11 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2ac44383-0068-4519-8f5d-0243c9525d9d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e38c40e8-878e-4e67-a372-66f012fc22dc phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ccd8e117-b491-46b0-a84a-323861c7b34c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P51Y infores:phenopacket-store PMID:10580070 uuid:bc64c702-3635-4d84-bb9d-b2946b8757d5 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:dc772e1a-158e-42f4-a8c9-738ab5ffe361 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:37843397 uuid:4fb182af-d17b-4f4a-9e3e-4753a4631c07 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cb1402a7-0286-43af-9897-0deb8502441c phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:83941f5b-8e86-4e56-a906-46ce48e1588a phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f0a75e7c-a30c-48be-ad21-22d26802bc86 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1c5ec1a7-93d4-4ffa-a655-e2c3df2aa0e9 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9bd670c8-7d54-48ff-a81d-afb29a6a84a3 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5ebb81a8-b80e-4a9e-b62d-3c9bc210d127 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1b71520c-38be-4ffe-88ec-57e4861065b6 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ff34ff48-9b45-4a8c-89d6-bf46e65c088a phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:55fbd480-9185-4d0b-bab8-4527ade4b88a phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:432e0dd8-6a09-482c-b1d3-65bcc6759b6f phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:53d5915c-9897-447c-87ef-edbc36a8541f phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7247f76b-28a2-4cb0-b9d0-53271aeb2e92 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cc55dd12-7e38-4609-948d-8a9f172d518f phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8ef02770-7ea6-4e6c-83c9-9b28bef16cc2 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:22827da8-630d-4669-9145-3bd5381e29d1 phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2fb20207-1228-4286-af23-d8267b18ee9b phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9e8afd1b-8d64-479e-97c7-b8fa65fd2152 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:077e8edb-4eb8-4b16-8ab8-09362f1f6c79 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6c40c159-e8c8-41f8-80af-0732fde4e321 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c1021086-889b-4c59-baf8-794c80a96b9a phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dcc76f2a-c33c-43ec-adde-d666b36427c7 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c37cda12-d1ae-45a2-b637-3dc0860b0704 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ed3f52ec-2a15-4035-9591-65294679529f phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a40b46b5-a10f-4fd5-8fd6-0a45c4e918e8 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:afd0e4cb-28d2-4cc6-a682-b3c992378b5a phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:20c8d42d-ac8a-4bfc-a481-a7a5ff1c2569 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f07aba22-d0fd-4e25-b285-57833ad7003c phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bc504b81-38fa-49cc-b703-986b2c28139b phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4597cc19-92fe-4175-9f16-e5177f7ddb74 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5cbba7cf-f8bf-4c6d-b7a9-d10a9147cb58 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8298a5d8-a619-4068-8709-d9c37a53d1b1 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7b857b38-9c9c-465c-9d94-8f5bae49ebfd phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:4aee4371-e98f-4629-be81-5059844f0c04 phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:eb81f908-1eec-455c-a5a5-2418f464ec38 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:17250669 uuid:8e16a68e-097b-4fca-9093-719b47b070d9 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:dec63c08-e020-4c36-a3b1-22435d64ec9f phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:6da367e5-96df-4c6b-bc9b-28560bbf7d47 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:b7279c13-8d89-4ab1-aae9-a1d390b62c20 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:c2a7cdc4-f9ee-4c48-b87b-fedfe698336c phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:54c4160f-a9cd-483c-b1dc-f4f08470b071 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:f645b2f3-6ddf-4226-a491-c6442eeb8738 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:cad2facd-08e7-4af7-8063-4f4363bbfece phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:7ebb89d5-10bd-4187-88bc-00ad318b9e35 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0000287 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:0427e782-3722-4fb4-83d5-3df5cd220d7e phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:6ed5cc14-b7ed-41a7-b9ed-36dbfc8de605 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:6d9e373c-4650-40fc-b474-487de839c565 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:ad1d5de2-b418-4a1a-8d62-d8d0b8f66081 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:8e0df098-fdfb-4097-a5b8-fa970208c7a5 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:f75ac64a-b924-4a38-90ca-573c99e76786 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:12ccf6c0-3cd7-4969-86c1-51fda0d9dd5e phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:5853bd88-8aaa-4eba-917d-2fb8c1f8fb44 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:70b8c470-b7c5-4082-b790-5efa4a895e20 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0100324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:fb99c440-d222-4783-a5b9-70784c33f1b6 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:4ad43f41-a50d-4258-a74c-dcd4fee80c8a phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:32030fdf-0bc9-4220-b1be-62cb96309f86 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:b89f92fb-5104-4346-9ee3-cbff30cbb783 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:efbf08fd-e76b-4895-96ca-2739c4063911 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:07fda366-7513-44fd-a9f1-7388e897fbee phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:468131ca-7fd3-4214-be07-3a5adfe9174b phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17250669 uuid:e404e3a3-80b4-4cbf-beb4-1c3f7ba10271 phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17250669 uuid:73ec0543-ed7f-4715-870b-5acff37f594d phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:37843397 uuid:d56141f7-1367-4fde-8afa-8e89f93f3b06 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:71f0abc1-3af4-4ef0-a887-1096462e2d6a phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:52af01c8-2122-4d50-a77c-8aba4a1bb27f phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:85db4a59-d9b9-4e63-a58d-0e17242fc378 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cb83de41-4f1f-4288-8a30-7f344905fea1 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ec081b68-888e-4de9-b9ef-ef5d07a0fbb3 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e5f5494a-b348-40be-a33d-c32177f71b77 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4cfbebb8-14d9-4c9f-a43a-0a91a346d794 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:aba0813b-0819-49eb-bc32-b3af7aefbf66 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2fb807aa-f70f-484b-b9cf-aaddfc29c8d6 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:77671384-ffcc-4ede-8ad1-02f16d8d1292 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:08967a36-efc6-4a11-8eb0-a3bf0539f618 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:47d4b2db-e80f-43b6-906e-0d2b7455fb24 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e3a42fa3-b841-413a-bafd-aa2301bcbd5a phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:130a10ea-7319-4b35-abb9-3c7ee1f3bab4 phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8daf3536-7e9f-4218-bb2e-42c035651dfe phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:57e68c52-4479-47fc-af3b-1228fbb867de phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:65dbf07f-a3b5-4fb8-ac15-69235175b813 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:b8fe86b2-7f0c-436b-ab7b-9705452fd15e phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7c6cef44-dbc4-4d52-b679-4da93d11e08d phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:740e92d6-8035-4dd2-85f9-16a571f3b427 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d091cc63-f85f-4578-bb04-519e688005e1 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:14949f5e-84ff-4d23-ad1a-831c1e48450a phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:2f8e2e2e-2cb2-4fd5-bbf7-f043191754c3 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7e8edc75-8daf-4894-a49f-85d20ba0fe4f phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:95c49807-4da3-4cbc-8ec5-5174d4aa94c4 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e4f78141-25f7-483a-a596-44c45d47c648 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:14566930-91ff-4a71-97da-edbbd90cced2 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:dcbb13a1-d223-4bc2-8c11-4f4e351480d4 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:139e4563-6c36-4722-aad1-949b79f2c162 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e018899f-2045-4514-950c-4da03e72bf57 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:135c0a96-6f44-4daf-9c81-19784b228f8b phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:8d0236e2-c31b-494a-bb91-9930ed782fef phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:fdd8dc45-1d35-4bf4-be3d-8b023eae8a32 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:07f6078a-8ba7-4359-b89d-72deb41f05a8 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:dbff0294-f323-4e29-bf0b-abcbd55b082a phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:7c2a73c1-f59a-4f48-905c-f277e031ee0d phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:acc486a9-5b51-4a82-8628-386640a1c0e3 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:58efe1b9-c6df-41e4-902e-3c96a6bb3762 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:34fce17b-13a1-40a0-b2db-7be0950f4560 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:dd6d3a75-24b0-4642-a5cb-81af918a40c1 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:42137849-b2a3-4238-9cca-4f4fe9c54a10 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:32cad58a-eec0-41a0-b97a-99b69193ee71 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:6f208e9c-f705-43d8-b72d-a195bf18c45f phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0bab7e88-9b63-4713-a537-101f2755991d phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:2ff3b152-ca89-4fe3-953e-cf49a8d4587a phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:658390c5-c696-4995-9fac-566acea14e74 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:5d7d4cc6-58cb-4be3-bd4a-0e7ba7e16be1 phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:af11ac64-c20d-4b90-9c8a-67c042aad162 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37843397 uuid:2e9c1645-c501-4100-a26c-8cc3724ad382 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e629dfac-9da6-4935-93aa-977e9b1bb8d3 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:97c3d9ea-7cfe-4dcd-a54b-91be6d081e5e phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f16730ff-39f5-4a0f-a73b-2542cb90c0a9 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dfa40689-65ba-4461-83bf-5cf970de3d41 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:47896bbf-7ea5-4b5e-bc4c-2f9823b5c7c2 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fe1c621e-e7d0-4f4b-83c1-4098208b39d7 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:488e4e92-c56c-4ceb-98d9-d235b22c88ac phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b83d85eb-3bf1-4661-ab30-d0025482cc74 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5e1dd21d-5c88-4f94-9e4b-59af03f9a23f phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:47dea8d6-1b7c-4985-9423-cb5405a640a3 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be1e78ca-1774-4b03-ab28-206af7e96a90 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be0ed316-6e67-488f-abfe-e6ab55c94582 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2b0657b4-85eb-4e35-b4f1-7daf6214fbdd phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a0dfb014-d015-4962-9d4f-0e3d749db0a9 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a748ffd4-204a-4ef5-adb4-cdc77c3ca57d phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b22881b2-df92-4e98-b47d-8848d2e04674 phenopacket.store:LMNA.PMID_37843397_TR34 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f1af4603-6b09-4b84-96d1-01d10a45b401 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:37843397 uuid:7b05d561-efc5-4394-be7f-c5c276a8171f phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:37843397 uuid:734640b1-de90-4622-8dfd-243c0eefb1f3 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:83788e26-2017-43d4-ada7-4c4965e939e8 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d893d711-b8cf-4991-818c-3d36b47eb63d phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0e101892-e0af-49fa-b967-a8cb41e43f58 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:85b62aec-7f6b-4126-9621-40ebb088e73a phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2e386c9a-0ee1-4417-afa6-0fa0b6603b2a phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:06329ddf-381b-4f82-9a79-aaf998e3c8b4 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f70043e5-302e-4027-af89-0d6e4cf7a8db phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:01c67420-3419-4c85-b883-107d69821e19 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:607292fe-fe00-45fa-92f1-0b4630df8b9e phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0ce253c5-d6b0-4817-8bff-339fffe00552 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ea3bb06a-9a55-4734-a7f9-b942a8e34785 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:37e98ea3-68e9-4070-8a49-1cfc5d44f806 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:02b5808f-5cc8-49fc-b56b-8c8250f58598 phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e56177d9-88bc-4e50-ba74-9e3176922cab phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9e84a79b-39fe-4f45-898a-754a113d8dca phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:36a1b99d-da4b-4d82-8212-4d32f60632c4 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:417b1032-61e8-42d6-9600-ae4e07df1884 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:adc32871-26d1-4fd8-92ba-0fa311c8ef76 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ac8e85c0-9732-4656-ba81-1e79cb799123 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c9b395c4-4b0d-49ec-979e-196a2f4319c9 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:78db41b4-b621-4705-8f65-8809fb14bd61 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cf1ee712-c741-4038-b0b5-4a5dd5676f2c phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:31140f54-9db0-4fcb-9b10-510e833d3a89 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0327694b-8c0c-42a3-9c45-e6c7869fb066 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a673513e-3a9b-4bf2-b13c-45bd870ebe06 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4dd6b55b-aa74-47b3-9e10-05ce497e9b03 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:771c5644-68c0-46f7-8c72-131ecaa40da8 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b6686059-f55d-468f-8371-67c4958d8e9f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:017502ef-3ef6-4d23-bef4-e149782cab86 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:45d9e969-e476-479a-b538-8462448920cf phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c9ad3b09-cbd7-4aaf-845d-59ad88c437b9 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P53Y infores:phenopacket-store PMID:10580070 uuid:4c4dc798-13dc-4ee1-8011-44c99c5121b3 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:169d3d1d-8e8c-4576-b005-6959e6f65fce phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:e0972dcb-5678-4fd9-823e-15e1a1de554e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:14ed4835-b82d-4c35-917e-6d6be586abe7 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:16a8b184-4604-4952-a2ac-ab0810d64180 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:76630e0d-af6f-488c-a104-c3384611f3bf phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c6ed7ca0-342a-4fea-8177-abe4b5097768 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ea32fed5-e64d-4a6c-8489-be772a45fd3d phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:319e878a-fa8b-4a07-9c51-b39d85d1740a phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6af0b1c2-d614-4078-86c0-3227f0ec68e1 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e345241b-4987-4315-8f9c-c94d947dbcee phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d077b236-a6ca-4182-81ec-ef0a9476681e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e1181242-f23a-4afc-be1f-25371709553e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d6a81ccd-7e57-4f69-83a5-eaad935aba36 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1d51ef34-78f8-44a0-935b-a2df4bdcf4c4 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e336e1e0-213d-4679-ade8-e68278d55aeb phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:10580070 uuid:3e192f51-7250-4bc5-81df-7d41ac35900f phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:709a19e8-7bd3-4f93-8045-6b40bac9bda7 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:5f014318-b529-46d0-8726-7c36d777d653 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:91420b3d-549e-4f83-8935-595d28301671 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:5de9b00f-5440-4957-8dc1-38f12b04d201 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c3e62c66-a3e6-4a0c-a91e-7616feac1aba phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:091f91e5-47c3-4e51-a31c-98affc21652f phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e53c2512-1d07-4463-8994-b7baaa855c7b phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8b54fa84-830b-4328-9b93-0739b1b73eba phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:dd9a6b01-bbbd-44b7-a367-3f7a081ffa58 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e2eda891-aa68-4065-a3b3-7b220318ab0d phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:fb3daa61-cc78-4bfd-b921-a91cd572e1cd phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:24915d1e-0623-4c85-8884-db6a4a916b2a phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e81ca5f5-26d6-4201-834f-6176a4d47cce phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3651986b-5c2b-4bc8-8dec-fea8ebd4959b phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:eee7b94a-ab32-48da-a932-d826f90fd8ca phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4ff459ef-b782-49f7-aa70-ca286acf617d phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10580070 uuid:d2dbe17a-82b7-4f38-8ab0-3a2197b6ed19 phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:4b6a61fd-f88a-4521-8d41-23a28331e79a phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6df491e3-fc70-46d7-9540-198a72aab88a phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fd2e6c32-92d5-4e79-b663-015b3d47a1e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0590f194-c100-44fd-89b1-0f7a799bcc25 phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9256a83e-75ba-4fa2-8f23-993be060f2ca phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:092a98f1-8963-4767-a523-5a1a517924d7 phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b25c4d80-5b44-405b-b9dd-d8101d66ec5b phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6beac315-7f67-4236-89f0-2a3668db2309 phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:25e9c180-25cc-4bbe-ab68-53a4de37d692 phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:bf92bdba-f0fc-4a97-8075-6550a790ddd0 phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c781a14a-172c-49a3-a838-adbbba2549fa phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:691787e2-d8f5-4bed-9f53-864bded18b15 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:8dea8bd5-c36c-485c-bf0b-277cb0e0a472 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:9b2666c4-339e-426f-a962-d1c962b193ec phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:00a61fc2-d1ce-4973-b7a8-f64123c0fbb3 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:44b31198-bdc0-4608-a377-3561238381b1 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c8e62fa0-4299-4861-bf9b-20ad7ba3a9d7 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:df37baae-afed-4ded-9b21-f72855ff4e5d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b5555b1e-d8df-43a9-ad27-76b79551dd53 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:56f73cda-33a0-4642-9e82-8db44417216d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4060d3c0-c43a-4515-aad0-6cfcd6206953 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b4dfa0d4-6d53-4474-b3d1-760ad7c5e428 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d233dce0-9275-493b-9c3f-fb97fe2b7737 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:025ea56e-8593-4978-ac95-b50fbb56e72d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c7473183-cc54-4287-a591-582d3741c267 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9937a528-b28e-412c-abe6-60c877c291a3 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:10580070 uuid:305395d3-a5d3-4872-bb1d-e0bc2d71a5bb phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:e4aacb3c-9de5-42c7-86ec-cae9220a9f80 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:37843397 uuid:c3248a05-c4bd-4d85-954b-061311781dc9 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8fc9a50e-3818-45b0-af1d-7d2475ac71e5 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a0388ee3-fda4-4f6c-8025-292e7167dbbf phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7f48d4c3-55e4-4d5d-9c6c-2d6a109abd8c phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:03544c0a-1d80-4003-ad19-31630c1b99a6 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:461f3858-37b4-43a9-8b32-a48808601a1c phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f9ac397f-ef30-4f93-b9b5-2fe7dfd00838 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a46f7329-5010-48ed-b559-1381b83ea698 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c148d931-ec20-4099-9af3-f0b972466860 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0359809c-0a7e-476f-9da0-33c4977ba2af phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fdc248df-d924-4525-b8be-cd4f117a5057 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a8520996-60a9-48d1-8741-9588ade680c7 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6ef82e01-9b2a-49f8-b4de-fd3cf4597064 phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:db6b2086-ee0b-46f0-aaf3-98e765a2d50c phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:12846078-4843-4a18-b297-0dded0a9be0c phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7a22357c-b03d-4e2d-96a2-52add53aaaee phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:331a40b7-e110-4b1f-a9bc-d5734ef70abc phenopacket.store:LMNA.PMID_37843397_TR32 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:da94e6fc-ee34-4796-b069-8c9561c0afd5 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:37843397 uuid:b75bfdfc-8833-48b0-96a4-3de67fc1c333 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8d697d03-1795-4f15-8bb3-b32ac54c250c phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e91af34c-611e-4c14-8d62-468f9bca1d03 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:01547c69-e789-41b3-8560-33e923c5c9bd phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2a28f5ea-5d82-44a0-9d38-8de25c0b0498 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cf091197-b866-4012-ab11-c4e84c8cf19b phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:67528973-7c29-4a84-863b-9548fc62013f phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e20fefe8-17cf-449d-acb5-63e52ab92e05 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ba03f83f-a987-4a90-8336-9453aa6db603 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dbecd6fa-bf40-488d-bdd4-00d522959fe9 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9b48d8b5-5f76-43fb-b8b1-4b8a5c759654 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f606262f-6463-445f-8609-3c92c4b426ef phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:156680a1-ea9d-4069-a5ca-92a6893dfa9b phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:70f1731f-a641-4644-bc6a-249742368d5f phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3456a4a6-502d-4238-a75a-b92cf82a2d98 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:db16549e-f20c-4984-a0d9-5552225881d0 phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:590db25d-5548-4654-96a4-2dbe0d7561dd phenopacket.store:LMNA.PMID_37843397_TR2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:74893a72-e7cd-4190-852e-9c939fd6dc05 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:37843397 uuid:bd13d90c-7b47-4bbe-8fc7-1dd914d1b66c phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6eabdd21-1c92-49f4-be52-cbed309fe9bc phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e6927b79-e107-4420-8c50-117ab0528509 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e4f346b2-57a5-4631-8b42-7f8b66f15a56 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e48a3419-1935-4212-aa0b-9b349836f210 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:142b66ef-9668-4926-87e6-f205eb1d9af6 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3095733f-7359-4564-9305-aca819f7d699 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4694d591-8856-4101-9366-baaa7b4c2b77 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:954244dc-c16a-4a93-a253-c5d4d5975550 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c5ef6929-f9a3-458d-aafe-8b6960dba9ff phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b8b49c90-d2c6-4db6-ba24-9cedc419bc17 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8702be6a-17df-4088-82a8-46d9b28d9f8f phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:95ce531d-ce53-46cc-86d4-3140bfe56693 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2cc438ca-8cc4-4479-88b8-86cfa721b432 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bfa6b7ec-742b-4be2-81fd-c8ab9932e202 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ab9c8188-7963-45d8-b41a-996d3cc05b03 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1f9b6cec-5796-42c0-b95d-321552c31544 phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9f4352a9-2f36-4906-a97a-b0f2859971f8 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:37843397 uuid:c10efe3f-61ae-440f-9ca5-ed24c33cc290 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0ecc0b35-ceb1-43ad-b3b6-89dc2df4f310 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:81f1f8cf-ca3f-4076-8423-d4c572f134a0 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:36a19b04-e8f5-46de-8b36-91de82c3b561 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f8afa93a-f9b1-4772-bcb0-cd4d46ef41f2 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2cde2407-8191-4984-96b0-adc76af3bf58 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0f10c6ed-a775-4891-86fc-ffaeb5450d90 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:74c0f1c2-8af2-4891-8e18-d2fc19a1bcfe phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:31d0e2d5-3580-486d-9e35-148885d9a24e phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e8067ce5-627a-4cc9-bfd8-3af364fc5d05 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:efdd1c84-0761-4581-92b8-15ed463ab1fb phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f1c07db9-4fb9-40dc-9f24-e4cabe73b309 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5da837ae-8431-4780-806b-7189daeb69ca phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e229eec9-a917-48ab-aa5f-cd859bccf86b phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c732659f-d274-4371-b1ea-26e24ad078dd phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:42513595-2600-476b-9c77-177d07eb9dfd phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2f9e1a16-f834-4dab-8082-e06e62caedb9 phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:e4de31f1-d67b-43ac-a627-d37c6d32820a phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:10939567 uuid:a15bc0d5-795d-4dbb-b380-1c446aa3b2e4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:55785183-0f5b-4805-b176-511bb3346193 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:61ff562b-2198-40ed-b1f7-112004b0d62d phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5064609a-79af-4f94-a505-ecfb5e9ed908 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9215585c-59da-49c8-b151-6877d06ca671 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5fc4df80-6dfc-4f2e-b725-039de3e5d158 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:23cf34ac-ba79-4568-bc02-08211c2b5970 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c29188f3-d4e7-4953-8f7e-cf2455e13874 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6245806d-fe98-42b5-b05c-c3eb13754161 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:56583967-0357-4e20-bb62-9c770bb5867f phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:04b7d595-c553-4f69-b10b-375de7cfe6e1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3b6aec21-c0f1-4440-9937-68770acca371 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:369e1dc3-4d73-4f7e-8323-09c68098ac5d phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d2971571-e694-41c5-9124-ca4907fdeb8b phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:27a6b75d-de88-480d-bde4-0c3a27dfd88b phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c55c61fa-153e-4f95-ae70-9ae25c6b6147 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8c3159de-cbce-405b-8ee3-3d6b26da2f55 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8de1136c-d654-454f-835e-58f29c07c263 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f73456e0-6838-46c9-9e10-6e00e4413429 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:25288f79-d189-4475-b74b-0a270efa4514 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:96fec969-16bd-42c0-87af-c371e0474b6c phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8fd654ca-dda7-42e4-b244-eb9da5bc66b8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a713462e-eedd-4710-9839-394093c0afb2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:976f2619-26d6-4a2c-ad12-b870df768989 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a1698fde-9dff-4451-ba3c-2d13c6aa2d25 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dc97f07a-d3a4-4d98-bc5f-4f281750f9da phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:76f09c0c-745f-4d84-8b9c-acdeebbe6f72 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bd7834a6-b3a6-4b18-aea8-839cc3217d5a phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fa9cce14-d301-4380-bb00-822b1368fb7e phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1faf585d-d9a7-40b8-a0b3-34ee6080160f phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:10939567 uuid:43b2e539-e1c1-4443-a870-77ae08a2182d phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:7e6a90b2-ba9d-47ae-80ba-3512f1af5c13 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8fca8530-4ac1-45ec-bc99-605a8e95f1b6 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0db9f816-f46e-4aef-9006-6071d11dd90a phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be18893e-cd0c-4586-a9c4-0ed5138daac5 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:50d11d40-79b6-469a-ad29-59c1877cf468 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:54047aac-0808-4fb5-83ab-cea0f405be6a phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7db4e7d2-a782-4d8e-a04c-ae59ae2936e2 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bee4598c-8bcf-4238-b7f5-e2573874ae26 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:05ebb7b7-b26d-4a35-8f64-f0984734ebf2 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b84ea8c0-6bb2-4984-a322-f477e4d21ef5 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eaa91fab-6d66-4dc5-bd87-02db30623569 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c7e2d372-a145-459f-ab7e-5e4b290c7fbd phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1d176240-37ce-4ffb-93b1-6bcf47d830ea phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:75aef9c7-a4eb-4e53-9202-b2e5fdeaab80 phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3d17e3d9-36ac-40d6-8361-ccfbf0343a3a phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:37843397 uuid:5aeebbb1-2d9c-46e6-b4f6-aa963b7a92eb phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:37843397 uuid:a65da878-6e6d-437d-b03c-4badb0a62691 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2c5d3f68-ed64-49f7-9797-1471bee3454b phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2f5a7fab-f200-4646-9b5d-62681cd2bc80 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f3493317-2618-4de1-bfdb-dd6e282fe958 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6f1a135b-c368-4c4a-a332-ee3def2ced59 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ed5044d8-358b-4c48-bd63-dfbc9aecf839 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:46de0875-849c-4a8e-a2dd-64ea842fdc79 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:50a22799-a4dc-4552-a8ef-65789b6cae1e phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1410bd20-c7e0-486b-b56d-05083a716bbd phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5df783c0-a58f-40e1-b9b6-15212fe41643 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:14407318-a8a4-4258-84e2-406ad4bdda9a phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:625ef109-3168-4569-8610-bbf061961547 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:01196f68-1ee6-4dc5-8444-62e104b40da0 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:45fcf8f1-a466-4913-9054-64a7b9741510 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:482866e9-c508-4378-a2f3-c1fea3f9bd12 phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7302dc7e-2d51-441b-974e-6b1d143579b2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:10939567 uuid:96613cbe-6f6c-4a1a-a52d-4c283b339b66 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e902496a-26e7-4549-8318-9cde346d8344 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c5547c5a-7a2e-41ca-a29d-5a6d068859d1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1a55c4e6-30ce-4c80-9ff3-6e48ff7ecba9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:57ec5673-0342-4e7b-a621-5c73fd2ca592 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b33d4788-40b4-4cac-a8c9-6a9f1d855931 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:46767b43-5b3c-4096-ae76-820347153eeb phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d6a5b2ef-f3c9-4215-bb55-a7a626c0dd35 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b546030a-6811-4f63-81dd-dc03e132753e phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6b8e6788-8b87-49a7-895c-56137a8ff26a phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:64a73665-ee21-4378-96d9-cf828202bcab phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:04e5f045-5daa-4a34-a033-7d2c23685e56 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:955dfd0f-c89c-4b89-8d8f-e2851257356c phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e7afffb5-0976-491c-baf7-d893324d2877 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3809a19d-59d8-43e9-8c45-6ec30e30ed73 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3c649573-d0fe-4ba2-8c89-5d67b66a0080 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:beaac64a-ad80-4039-af15-8438bd348928 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:426d5079-a6ec-431f-9231-3a70a2eb3c68 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ba684206-8c8a-4c1d-bf14-6a25c6a6ace0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:46fd80ed-8644-4291-9e0e-d7bfdcc99c8c phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6872f7c6-c308-4ece-bb2d-7e25777a2728 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dcb97c2a-cd83-4225-ba78-62637e41ade0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:85953649-7b2b-48cf-b593-dede8cd92654 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:852615b4-f142-45fb-a515-0dcd9edd481d phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9752c3ad-083b-4039-ae38-1976d6e0a6cf phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cc10b876-78f5-4f16-9500-2d842ed40316 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0e1bdb3b-2b5d-42e0-ad6f-77ffb1eba81a phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4a4a20ef-2107-4156-8e5c-67edde0c90eb phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cddb8d23-04c0-411e-82ac-c441ac95084a phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5ef3d4ea-bcc1-4b6d-b7ca-cef8ea5454b4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3e7ccf9f-b289-451e-8d1e-038f4d8e66e5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5dabd87a-3a60-4837-987f-5fbb0b4eb94a phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b6782af4-60ba-4582-8c93-853888bc784f phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:10939567 uuid:b7724c64-21e3-4891-a023-61d64dac4b04 phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:b825924d-c955-4d4b-911d-e39e30b43420 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:37843397 uuid:c17606f3-eb38-4d0c-942d-ad390037a08a phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d5c7c913-c6dc-4dd8-a97d-d164c3c88e65 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3f6c8829-0036-4da0-9f58-8b926fa24460 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2cc3233a-71bc-43d3-a972-81d5ef04cf2f phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f55f75bb-13e1-4b49-a238-7f4e1f5fdeb0 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f164e6e8-330d-4143-ac13-eaca49d4cbec phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:49bb11d8-6663-4faf-aecd-c6410682f922 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6a205bd5-5e30-4a3b-b10a-e796ad75f7e4 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8326ffb6-ccce-4712-9c62-bf451d9e7388 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bbff93e4-55f7-40ee-94d0-05f90485f243 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:17c85684-79f2-4278-8730-6a6dc81a2c05 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:132d232e-d4d1-4657-af3e-fa9fe69b8136 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9dc85675-38a7-4059-9f9c-959250bd3052 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ebe4d6a9-5716-4a4b-86da-9c677ff0b9e8 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e4425024-4d55-457b-a707-df7b2c62b8fd phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4b691d5c-6d80-4bea-8b08-8e71b477da40 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fcf54119-6257-4669-bbae-ffef00aac745 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fa2c9593-85ca-418b-b99e-700a7f451bd4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:09d7af52-fad8-4073-a5e1-ae80cfd98b2c phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b2afd916-9306-4ac5-a541-e3da7c0b4794 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3ef96841-3695-4719-b7e4-c8637d3afc92 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ae556746-f109-49d2-b004-6547f122adc2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e9e51542-33af-4ea6-8c48-4e79df6e9583 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:087f8a1a-66b1-408b-bb81-0386ce684965 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b697161c-306a-47bc-8e24-5c97f44dce9f phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4e630010-9a9c-4cb2-adab-43dd5ae2bbd5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:abc6fef6-54db-4ce5-a23a-31aaa80006f4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:fa0e9894-6eb2-42b4-856b-09543327cf90 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bbfc501a-0665-41b1-987f-938222588501 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d9aaef09-4687-46ff-a845-ba3357e4b806 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d93b8373-820c-4214-92ec-e2d36acf1d73 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d4787999-982a-482a-b41e-2abf45207971 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c78af653-3473-4da0-9bf5-5dedbde77447 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8a646fc5-f812-4c32-92a0-b95f41cf9722 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a71973c4-9dc6-4045-a5cf-e67f8abfd01e phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:66cf94cf-6bc8-4c81-b5df-0f89bcd11be8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9e9739cb-8415-4563-8deb-af25727f23d3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:28c03295-48a6-456e-ad0a-4285ad39242e phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4518eb2c-e1c0-4fe1-8591-7aaed9cd0b07 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8c53e49a-a120-426b-93f7-179023bdb8ce phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6bfcfe26-6f37-4758-a7f0-90683ce2af54 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:69d5fd7a-a782-40b1-9a39-09d9f958871c phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:39a9a55f-0a7a-4882-9baa-f248e59feef7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6bba1a53-7d1a-49f1-8c7b-b208fc1e1e25 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:39c9e3c5-2e22-4bb0-9bee-dae70a3ed284 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:490cab5a-7488-48e4-ae3a-cfd0ec6875e6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4f1b338b-6939-458c-b2c6-16d7840f1cb2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:10939567 uuid:7c928b05-023b-4f27-81be-c03a9909c82c phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:94ad2444-31ec-47d8-bac8-fc44d222b80e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:3c019945-5f51-4a96-a799-54f0e043ed3e phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:d4682263-6f5c-4601-88f6-68196045e288 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:31f3dec5-3a90-47d6-ab8a-7b0bbe867237 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:db0221b5-11bc-48b1-a766-62bbab6dd970 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:18bdcfd1-07e0-4109-855d-bb5851c7c48a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f4109868-4487-40c0-bdb2-433eebaacc2f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d5f4f61b-709f-4bcf-892f-4337ca20eb5b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:88fb3d47-103b-4b26-b461-532ed838f26c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:59093af9-4049-405e-b44a-c78e39f68f6a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:85ede9cd-aac0-4a40-bb35-0bb26dd01d92 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:82b4bd79-60d9-4e46-88ac-170d5c5446e0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fefd6dc5-46a6-40d0-99a0-32e699b25019 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:bc456634-1c34-4db9-9897-b88ecb8433f3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9ee6567c-89e1-4717-bb45-7b26941a89e4 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:87de1728-5b1d-451e-9d12-e775f6047927 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:02af2a3a-cbdf-40c8-80c7-90da1192afd7 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:f4802367-81bc-48c5-ac97-e4680853b078 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:6a93f761-f31b-44a6-a7d1-e9008f512336 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6c0aae97-f3f0-486c-96d4-2f568a248de3 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fea4572d-37df-4a1e-bb7f-8760f95c74fa phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cba73a7f-7604-449a-af52-cbd4ef18a764 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cf323be9-8b73-40da-a7a2-f8c2aa2e8da7 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ce1bc23c-a821-4b08-bbf9-2c9a686c8d1e phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f661cd2f-351c-4e52-9685-1a3c33cf738c phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:16262a9c-4299-4b44-955a-34fd2d9ff760 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4fa7c178-d5a1-4b66-818e-50fa3e85236c phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d130392c-ad11-4d33-994f-913571aac174 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:aa5eb43e-be06-40ec-ba2a-df2bfea4e7c6 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:92bebf9f-d2bd-4d82-9b2a-e5282ae5334b phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2972af5d-a499-46cb-91b3-433c3b6fd4b0 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7e175c6e-de35-45db-8935-fd07b1ff3171 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:41eb2096-3a08-455d-9c16-0c875bb03b3b phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8a542e39-6d26-4fe1-b629-28f40eeccfe5 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:18e695f3-0f40-4531-a9b3-9a9497391e89 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d74379fa-cd11-4b96-8822-ee3092890546 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:c048ffea-ded3-48e8-bfb2-fb983a97a157 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:83d63e66-99e7-44a6-9fbc-d3a2909cd2c7 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:47ac094e-f33f-40c0-9113-9ad6f7e8dfcd phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:957abe64-6f90-454f-a0b5-957c82ffac83 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:53437881-f8a2-41a2-9754-00d062cd5134 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d2625c95-e12b-46f6-8211-a4aa1f015d59 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0bdac63d-c0e4-4873-9155-fdc0b3968873 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b5ae751c-2e8e-4518-84ce-3833ed348eb5 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bc4f78d8-13b4-41c8-946e-39517280aca8 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4c865d33-e364-4fca-8f12-bbd5e7bc06cd phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bac9dc53-9faf-454d-9898-ae6fd676adcd phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7d55c653-4c6d-4dbb-8b13-78bcae13cf41 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4f209964-c3bd-499e-9b71-fcf159b7581c phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bfad0ed7-4c18-40f1-ac54-4b97c279c6cb phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:576f278e-da5d-437c-be47-337979ec09d7 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:81817d90-f62b-405d-980d-843027529614 phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:719c3e8a-8c96-48e7-b265-db6dafc27631 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:18551513 uuid:82a3c05c-8406-45c8-8aaa-0872b56273ba phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:18551513 uuid:2c077bcd-10a9-409e-8666-3993ab138767 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:2ccd818b-8f57-4f67-b764-f7410fcad768 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:a719137a-8726-401d-97e5-79c0d3210f01 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:447e700f-c6df-4c63-a5a4-625464d7b8f8 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:3fedceaf-2e49-4d29-863d-9556003edcca phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:60a2a364-d530-4c69-802d-e8c6008a1af0 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:bbd5214e-05f0-4a00-88be-ab828cdae359 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:cb211584-ca7a-45ba-86ba-540df26a97cb phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:71636e88-52e5-4058-9cb9-3307f38175a2 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:0111a810-8447-495b-9476-adb6dc1958e0 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:75ef8fb3-d73a-4947-93cc-be547b2bce84 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:13126ea7-f162-4218-8f22-edfa2ba47ce8 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:5ec35a38-762f-4c06-9e1d-691c386d448f phenopacket.store:LMNA.PMID_18551513_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:22391561-f0ef-4158-b1fd-b4b5a423bb97 phenopacket.store:LMNA.PMID_18551513_4 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:a1967e62-354c-45e0-83d0-9f40078f252d phenopacket.store:LMNA.PMID_18551513_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:e4973ba3-d700-4bec-bd8c-b296698d3210 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:10939567 uuid:670a821b-4ee2-442d-97f0-e681bf79032c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:505a647f-fa57-4690-bba8-04706dd970c3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e341d9b7-ef07-44bc-a8a2-bfe5f3888768 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:230721c5-347b-4d6b-bbb5-f700cda90c4b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:082189f5-8ae9-4a56-bc5d-88b0d096671d phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:889d772a-e4fd-4c7c-ae78-0621443c25f9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6cd1f1f6-3dd6-41cd-8393-b6d84b1fba01 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:707ef5b9-56ed-44e0-88c2-cc2f8788bca6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:daca6a8f-abc2-4019-b272-677e9b2566bd phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8148b96b-5603-4d90-87f7-e21deeec63c1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:40518cb2-35ed-42a7-9a8a-147c3bde0e1e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:39ff38c6-3c5d-48d4-ac97-22bb72025ba7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f1e7c409-c46c-4f14-a59a-19820aee7488 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:046350bd-c000-4c7f-83af-b4eda2109cf9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b17989b8-ce07-4f0c-b59a-b2ca98dedbb4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b5bfc04a-edac-484c-8299-20fc83ac0c2c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4775c223-f2cd-4ae5-825d-46132e39e67c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e7354fac-4b98-4689-ac5f-3c653388d244 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5f8774af-5b03-422e-9e29-036ea87b6ce6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8912c65d-5629-4dcc-a761-d43b7443c12d phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:77f26609-bf49-4e85-9878-77cb2d221723 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:40ba3ae4-164f-4f9d-a93b-49928493d00c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:873a2a24-c99d-4f9f-97cc-17134f49b582 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ca068f1c-70ac-41fe-be18-3e9e513a1b59 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0000a028-da7d-4cdf-9d26-546e2ac18210 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5effa7ea-da6f-4dfd-a6a8-08840c73a42f phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:74823534-2af5-4a04-b17d-52669aee4058 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ced82ce0-c9fa-4473-a0db-17305c40baa2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6575cc47-8451-47ea-b156-6fa6819e626d phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:59e526f3-aadf-49c9-8731-90f18f8bb3e5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e346b074-0370-4e0c-9393-53ae423ffb5e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a8d13187-6f6c-42bd-bd14-c445aadfa38e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10939567 uuid:2eb257ae-f5bc-4c85-a317-d745b0ac4ccc phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:20274692-ebfa-4e51-9f5d-1ee0a1291cd3 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d2cabe27-94b1-40dd-bf38-933d6e14c35e phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a2c9c550-d68a-4d2d-b330-80df93db2205 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:012fccdb-8f75-4bee-b703-10ce920b8e33 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1b08b35b-1fb2-4cad-952f-6d23acf672ba phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:472a7d83-ede5-4cf8-b8c6-12365114a2f8 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1f9ec38a-83c3-437f-92ab-353365bbd359 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:35487217-17ef-48a8-a630-134b3a678480 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:16c08cee-cf0c-4978-9065-7b3e7aaeff22 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:88c11212-8a0d-4c29-82f8-d36627cbf2ed phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4e94546a-57b2-4999-9ea6-d4abfc536c93 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1b8414ad-9480-49bb-af82-cda8c426aa4a phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:34348f68-e32e-4c4f-aab5-30656d274f1b phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:709bdaba-f640-4d3a-b36e-fb07564fb162 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:275bf534-e414-4947-83b1-9e8eada54fd6 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9eae2b6c-5960-44ab-b07b-7885ffbae418 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:08b81ca3-2fd2-454b-bb1f-866c21a97369 phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7899d62b-2496-4dca-9251-e2e017724ece phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:aa6532b3-dc3b-42b2-8369-6b659ac88b6d phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:5f067e60-6607-4fd9-99ee-005b2dd7a8cd phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4e227bf1-abcb-4d78-9ac5-c1fb48072ec7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:282bbb3e-e238-4603-b9bf-e7f771c8994b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:76f28c36-f2de-4f8c-be2a-59998ef5bda1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a288bb93-35f8-4ee6-ab05-a39ea110c9cb phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8c31fb09-dabb-4986-b8df-48ab29249cfa phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:36521f12-cc7a-4c50-b4d6-38cd7c3f5671 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:63919d55-d712-4889-a2f1-ded2dc2872b5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9de8a543-c0a5-4b82-ba52-7d7be57baebb phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a7387cc2-2858-4f7e-9cab-e13251901b6b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:464ea52f-2851-4b00-b495-d5dc4b7a670e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:92855362-90ba-4566-aca6-676f3f90b95b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cb9cf05d-ba76-40ca-a299-b14710107e4c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1b9a279b-e1d3-4443-b958-bed8d7de1a89 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c5997d1f-8ee9-4fa2-84b3-1514dd9cb09e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:59b8179f-e989-4eb3-ad70-5cbcaeb724f0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d1a0e87c-745d-45e6-ad5b-3fad9bfb7f04 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5bbe7c8c-86c7-405b-8e5d-2cd0596206c4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:68b2314f-2f6d-41e5-bfc9-f848ef0653e4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9cf434f2-375e-4794-9280-1c65b7a9f3b2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:da3d7c10-6ed6-4c70-b7ca-7d037efd6e05 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:96e86f74-c575-4631-90af-2ad2c08f9299 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e4b2c50d-df7f-4ecd-9f47-7d2f24d55d98 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:12d622ff-4fe0-4422-8787-23b3182e601e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4c6d382c-4218-4088-87c2-4514831e0323 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0b4139c8-5087-40ba-b2fc-ed92cf6a954f phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:efc94331-1ff3-42aa-a4d3-bad984865700 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f0b0f506-7db8-4ea9-aa0e-aac7e888861a phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6beb0c58-bd5b-4fc4-9f07-236a9f863bc2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fe30c54e-cdc3-44ef-b459-74fed0c6aae9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e71c26d0-a255-42a0-843e-1e53de590b5c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f5391fe3-23b5-44d2-8f49-39d6e38838b8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:0fe8d2cf-c2c2-4609-82de-0e1c03f41310 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:57f65274-c460-4269-9e7d-033c32300170 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ee7216fa-59ea-4b20-af4a-88edd2346aa5 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:da244274-3143-461b-b301-87441656806f phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:51c28f54-e6d3-40d2-9ac4-142c2920e50f phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:2bbec8c4-88fb-4e95-a703-a777d18a0eb1 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d4e3e7d9-451d-4554-a2a6-5476acffc159 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:644cd15d-cabb-4da2-8225-c28ad6eb3759 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:97ba17af-7db5-4bc7-8967-9d6ff65e3c7b phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:cbb1e642-b402-45f2-84ff-420f4e68591f phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:61046b28-c753-41f0-ba1a-615c1d57f196 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4eb36fc6-266f-440f-ae6c-74b730de3da0 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:bfc9de53-38cb-4632-bf27-847a2e901316 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c854e4c1-8cd2-4266-9b4a-b1f5d2f9b0cb phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:cf1a5034-6571-44e7-b287-7e2238e75abe phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:47ac664b-eb39-4189-b8eb-3d3c54531d62 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:fed9c800-9787-40b3-925c-7005318e016d phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:29ca89a0-2ef0-40a5-ba20-c14e9ab91605 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9c2b463c-bb8e-4ace-be94-38652eba2b31 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c6af6942-8924-458a-ba9d-1c3f80412ca2 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0de6a901-c3bb-4d14-a71f-b2ac37f7906b phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:7210f3fe-abf5-4516-b5dd-1ba69d19a0ea phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:5bf7329b-d808-4b18-aa02-896e028c46e7 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0ae4605b-e705-4c80-a82a-509a8885cd5b phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ccb91bc3-816e-46b6-aba5-1eb02a9cbd06 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a6bc259c-e200-460d-b9cd-877f37dab56c phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:2113b46b-c1f7-4d0d-8e40-b669179a13ac phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:2fd946e2-08ca-4b80-a05b-88d57f1fbb57 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:6b751529-83f8-416f-b593-86b5efd82ca6 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:2a3a0fd7-8005-4c42-abaf-856142f63a22 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:cc1e52e5-52d5-4378-a581-8724bba78513 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a0e9b4a0-6dc2-4e30-bebf-2227235b18fc phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:ee583c90-3318-4762-84f7-c23b3510fca4 phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:70f5fd1b-37a4-4640-aef9-b09f484f1fed phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:a01b02de-2a62-4f80-a469-3daeecbca2bc phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:4be6e254-b764-455d-8e63-f3c1f92656ba phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:1b50f7cf-62e3-49af-aa82-6bc2da51f51b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:8d9a4f45-84db-4e33-9e23-ae63543da2c5 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:5d22b53c-d6c8-49ff-9abc-1aa15ed603c2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:0ab66c90-1997-4cc8-b1b9-a3c7c35da0f1 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:5ce9c190-5d9b-47d1-b2b1-5a37d41c6f9f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:974c2fd8-bc71-4d20-a7aa-425902b91a06 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5e9e0236-bf85-49ea-9761-fd4492b8e67c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:45d16b2d-61d0-4529-89c2-c022947d0375 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4d0b9b6a-e464-4cab-992f-a9113ec75411 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:240b4e36-69cb-496c-afcc-0670c210d074 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a5cbe23c-89cd-452c-92bb-c80817864f8d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0184f688-db0d-45be-9ce5-6d845dd1724c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:92e110e2-9799-4684-b41b-ea325a731207 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5d48c1dd-9ab7-4281-8c5c-5acb6aef3c19 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:505d429f-b1f4-4143-9c5d-fe6abf0c1218 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4089d904-d897-4cdb-986c-0fdd46690f6a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:306289c6-073d-4f30-8966-2cc3b6e80a86 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:a6b9d15f-c2c3-4e70-b43a-a41a884e0219 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37843397 uuid:5678cb22-1a15-4b26-be7f-a410c03f6b19 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bf124668-2c85-4e0d-b68a-6301411c903f phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d6c28de0-1bc7-432b-a141-c4b8d7924ce7 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:950f20fa-8ef0-4506-b7b4-f9e07411ee7a phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b5693ee4-cfc9-463b-bc53-0f8192a9ba7e phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6977d753-36b6-4517-8a8a-8044c139597e phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:17a64e13-1a42-48e1-aaf4-6cc7c15e2b4a phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9544744a-99da-4813-9b8f-9ec38ba99295 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:496eaf58-475d-4112-ae84-8cc26a29fdc7 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1ed4735b-895b-41bc-83ef-1f1664ce0dd1 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0587b7f8-edbc-4434-a80b-35e22917bc9d phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6d34537b-973f-42da-9fa2-726dd4a1e18b phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e5e093c8-9ac4-4bfe-a5b6-36dce1dbd806 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:26af2f54-5433-4863-b0da-5841767eb673 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5a71fb5b-6d0a-4683-85e7-3667c807783e phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3890e01e-d5b7-428a-8707-d8d5e0413724 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b94b13dd-397d-4bfc-8d92-5403efa5ef16 phenopacket.store:LMNA.PMID_37843397_TR4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ce6c6b89-fb23-4d86-9b18-ee1813dcef83 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f5804cdd-73e9-4d7e-a739-a2a180d2642e phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4c92e352-eba5-450e-a403-1712cfc2a9d3 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e383b428-6e51-4160-977b-4849aa8e14fc phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:68bccafa-0c19-4712-aa13-dff125523a03 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:26a90b89-beb6-4207-a893-53061ddc520b phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8e3ab42e-3dfe-49d8-9fda-20dc7ab19a6d phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a9f2cb9b-22d2-42b8-a441-a9ce1a20402a phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d5a7459f-bb15-44e3-89ca-fe6e5f6b4b9c phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f7d1af4e-95b4-4193-960d-3fd6a6e10d56 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8b6fcd0b-f797-4684-bdfa-6b6ab9ba841b phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9d938bac-daae-43f6-9386-4a83e24d159b phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:69122b66-6dac-431c-aa97-eb5d0c00ffd4 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1cf6d8e4-1198-4502-b86b-1d71e8ab8a12 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e82a5a75-ea73-433d-93cd-f0ea0a707358 phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c2590413-a4c5-4035-8ed1-aa93f69c622d phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:4da927b7-5cfc-44c6-81b8-ae608216e8ae phenopacket.store:LMNA.PMID_37843397_TR6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2044e593-4084-4388-beb6-d5ab3ff87196 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:a4b7adf4-1808-4ab5-a59e-72fa19438f08 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:4345cec1-418d-4e64-8c56-fe9ebffa6c6d phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:a08837ea-d62a-483b-9406-c14326404316 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0009064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:8a1331a2-6b47-4c18-8790-3930935c9cbe phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:a0cda7a2-6f5f-446d-81d1-c65cc8a3929e phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:f47a9767-ab43-4499-b0ce-a0d924b1c726 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:a1a86420-2005-4d0b-ab7a-5d83678262ae phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:8f51daa0-2f0a-4088-abe8-a6f38ddc9dc6 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:c24ee07d-2c8b-4a8b-bbb5-0f9df2d07be2 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:14bfafb2-b081-4ce4-9b07-73591cce77ef phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:6f3eb6db-8189-4fa6-b7c3-314538414d5b phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:6a7f64fc-cfd8-45da-bbcf-bd79546baac3 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:45e1ada4-2844-4472-9327-0a4bef88f76a phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:5b98ae05-8509-46f5-b3f8-7ce7a27c0894 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0002486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:09a59a0c-1fb0-495e-99b9-4a8db2a40f69 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:ea884cb2-56c2-4b68-b7cb-50d1989c4647 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:e0e71a95-9082-42a5-bf72-0bcea8c722d8 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:87d4dd21-458c-40d3-91fd-59b1baa04b6a phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:dea8148a-9ec4-4ebf-bcdd-69dd8e538cf3 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0012592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37303127 uuid:0b1ca039-a399-49b8-be9f-f3af202a52c8 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:bb6605cd-1138-4557-8639-1eba9cdce154 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:2d81656b-3d9a-4a6d-8f83-bc5ffa22a48c phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0030781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:09948584-da11-49f4-9bde-57f10625fd92 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:7fdcc9ce-d7ef-4dff-8c3d-56dd0a72fdfc phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:ea65f450-aa6d-4707-9269-a6000df98b75 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:0fe54862-c394-4321-9001-85b0b1cfcbfe phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:bb3bf71b-c47a-49f8-be82-273ae05b18a2 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:20a48990-6d8b-438c-86a4-d0e1e4a27faa phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:453b47da-58b5-4afb-a508-382321890ddd phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37303127 uuid:0afb4bf1-a6d5-44f2-9c0f-9f5b1292d0bc phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:37303127 uuid:12016459-83cc-4b0b-b4df-48c535470379 phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37303127 uuid:df78ed5b-47de-4e75-91c8-d92e3ee7efb4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:10939567 uuid:c4202790-acbc-4d7e-9a90-da84d74f1231 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:93b14476-7930-4a46-88b8-012303a5ddbf phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e51dc164-ef65-4527-9aa5-5d588da25f3c phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:edb3dda9-5b50-462e-bf27-906a7b3dcce3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0da595b5-a4d9-43af-a583-4ebe0a13e719 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bcdc4068-10a8-4fe9-ae14-674364bbea38 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3b143fbb-af0e-487a-a968-81c1bbd63cd4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:751dbd1b-0bff-434d-ba06-7b32b7e0c03f phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:89b14591-7f21-4743-a8f2-6f056bb53750 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:86274819-4a85-4347-ba15-7fb23eb960c2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:852c7c2d-cfe5-4db0-a713-7a19247881a9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8ba4c763-5141-4453-bb3d-2a97527f8162 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:51bbef83-aa8e-4f58-8136-dff4e450b17c phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8e686233-e977-4ee4-8a1c-542e984d8baa phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1de501d0-054e-4427-85de-564bac9b8716 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5700502f-c819-4f81-b32c-a9beebb001e7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aca9a61b-d7f5-4505-9d1c-21d22a762b3b phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:558d5552-139a-4fe1-9c73-d38bf092548b phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f96eb190-fd3f-4b1c-8280-d974a1e91a51 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:53e2de00-a071-4ece-9601-61affa702aaf phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e4b0e28d-6b6b-47aa-97f0-09e529177ac0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bccd4ec7-09ea-48a0-8da1-9ed9d091ab10 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2676f767-25c4-4798-9d39-009df1c88ca5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4663fd24-972e-41dd-9c18-a3e4ddbc37a9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:51e4dd74-9662-4343-9afe-2ede4ae0b4ce phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9ee566bb-7493-42e1-8b3c-fc7cd0aa509d phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:70a117ff-9363-4756-904e-04a538bd5479 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9e53b985-7723-4523-9ffe-4d34cdbe7776 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b43cad95-8f56-4c9d-a939-710be01be4a1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2a2c1228-28ef-4749-a946-2790e1fee092 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:17ddefaa-3a5b-471a-8cf6-ec6e1b9681ca phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fb394c61-59b7-4a6a-aa33-3dd4d11a7363 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:10939567 uuid:bd0bc94d-1c44-4bf7-be2a-58428833df86 phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:1f1fde07-814a-4a5a-8b58-540dc84044f9 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:3877c9f8-1341-4e1a-9a2c-cf211ab941ba phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:f9cd4438-c567-4edf-a023-6fa331f63d5d phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:67de91a0-12eb-4e90-b834-734e7c24e6ac phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8f1902d9-4510-4723-86b6-f487a767d9ff phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:382efb44-0dc5-4c36-9084-a1d47bea9bed phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cde4ec1a-e48c-4b5d-824c-66fef9ca4672 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5fcd0a38-fde8-4c32-ba6d-575c1d9eeea9 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3d644ffd-b11d-4853-b888-e1b65a6ffc63 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4f9bdfb2-8b28-4686-bfae-9c5e8c932b54 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e4e25f3b-4489-4491-8fe5-7c543b978ef7 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0c256a78-6b81-49e7-ada0-73d009246c08 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e2763a49-96f7-4fb4-82e6-1329ccdaaf47 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:10580070 uuid:80d68229-7373-4e93-82d6-d0d7327eb804 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:9e9433f3-788a-4d27-bf00-131caf7c7120 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:37843397 uuid:973a44f4-2bc3-4ff1-8132-f688d5efe364 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9c0c7193-d337-4d7d-ab97-5abade114d44 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4ae07564-c4df-45ef-80c8-408d7869cae0 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f2113834-434b-410e-b36e-e99c94a803bc phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:736a1c67-67bd-4ed0-838c-441efbefea88 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f8b56ce5-cbac-4fa2-bc00-9ca8c11a3d16 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7f263a6c-9d85-4cf1-950f-2179f7dff1c5 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:17b69925-7883-4699-8c18-a34562293353 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:709aeaae-9367-44dc-b32e-84aaf52367c4 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d4579fa5-3f25-441f-9f0a-cbb0c8383ceb phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be5cef51-e904-4e3d-abc8-ab9c9926f025 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:846103af-facd-4af2-90d7-74d78b46332b phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5291016d-fcf5-4495-bed0-6eecec7c4740 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f9663c47-80ba-4966-8acf-788cbe95613b phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e300c316-e75e-4adf-b7d8-17e512ebff90 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b9b5f069-8ff6-43ae-bedd-e6a55b9fa1d9 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d11a9e32-b727-4a5d-8c40-89d8c5d16667 phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:97cf79bf-0480-4961-b2cb-51ccac132438 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37843397 uuid:14c98af0-610d-4f37-87ae-6ba62ec60520 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:37843397 uuid:779f9383-8ae8-43ef-b144-6154b4935428 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:159702d9-be8f-4ffb-8bfe-5b20abb7f858 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0f3bdf17-2fc7-4b8e-b010-6ffb908fd08d phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dba39232-c144-4583-84c6-94c0afe6c3c7 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:043cb724-9d6d-4b25-acf9-2af0bd626f58 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e74b1046-c237-4236-8d14-a1a966f68a6c phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:06162f04-19ca-4cc3-a6fb-764acc6289f0 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0d3822e9-d199-477b-9a1b-ef1e629614c2 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0b8457b4-d649-45ad-b291-6602d832a2f5 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b5fb3b9b-470a-4031-8ade-3283e44c0c69 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0e42b720-eca6-4d1c-973d-08bd995b1db8 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0f16cf43-77ff-4145-8d76-7263ae2219d1 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eb845780-d9f9-4220-bd55-12d16ba95b2e phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a276b806-aab1-48a5-b0eb-defc94c07b02 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0b6a5254-86ff-450c-94af-9cb58f62d7ad phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:82ee394f-09bc-4f3f-9d92-de7b027861f8 phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:cdb2b07b-7d0c-4f59-9f11-d1bf3a67f4d6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:82efdded-729e-4d3f-b9da-33f0fb1bb4bf phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:c152bb82-b1b7-4551-be7a-8d0c7750fde7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:83b0c32e-1f1f-4169-ab44-e8118e7fc5d0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2a885b2c-fb7c-4fa6-b69e-8dea5c273705 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c348607c-ba5d-4dba-afe4-47c07f824291 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ddf12be7-3a45-438b-a200-9acd8be25e79 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:fe2fd15f-1a99-49f0-bf27-0286f28e80a5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7cd92133-609e-4d99-b57f-fcbe80ed530f phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6634b88e-2469-4bc6-b4e9-8b6efffad2c7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:82603d3c-fb13-42b1-9577-abe9963f8931 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9360a364-6ebf-4196-8953-73f1b3171709 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:08a7ea75-91b8-484e-91fd-81dd85b5e778 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1d5c6235-1868-478f-9f5b-1da67c4f5ee7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:85d8df4f-9733-4db7-ba2c-2da198218292 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0e58934c-97b0-4773-badb-99a90c065f58 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:af465bc6-bdb3-4c97-a590-5522c2f90d4c phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:63e6d697-7301-4777-9e04-099b38ccdcb1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9e193850-a8b9-41c3-8e90-5622a6511851 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1e2021ec-0707-4e45-8cf1-5b1c2bbfc186 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e3568b68-9b61-4ac8-ab07-c71b58817744 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1d00a5ee-704b-44c4-b40e-0f823cfe3393 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b428b154-dda9-40ff-b1ab-c3bb517fc14d phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0993b8c2-67e4-405b-9bb3-dc64cc0145e2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f896dbd3-a5f1-45eb-af5d-ef39a7844f8d phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:527d0deb-39c3-48de-8fa0-bcc46269ffa2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3ab58d13-9a5b-41f1-a4c0-0d03c07039ba phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f966cd06-66ab-41b8-9733-c319a059d24a phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6282b412-3b63-459c-8ec6-1171dd4e9b5d phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2d6f5672-db10-4702-9342-d8647d1027af phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ea0c46e6-bf95-4b9a-9780-91c3acff5d8f phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ec83948d-72bd-447b-a3a6-7fe4838f0659 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a89457db-f38c-4d91-95d8-d5368a8a448e phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:4b535f8b-0c00-48eb-b067-575beead4a2d phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:03a98416-623f-4aec-834f-328c70b607a7 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:c1cf868f-a4eb-46e2-8b92-0492cbc9c347 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:e6dbfde5-5f1b-4e4e-8a71-37c3985c4063 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:00f713da-0211-4b8b-8283-71522f9ad8e3 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:b663c245-d440-4fba-89cb-e3fbd9b4b81f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:3ce0bccd-b97c-4460-b830-956b6b97ec52 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1d3e6862-6d79-4da7-84a2-853cb43094d9 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ed57af14-f87e-4b01-9bf8-8ae736d98237 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a9673d29-dbb2-454c-aa57-b2d5aa44d0f9 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:389bc50b-bd07-4d32-8a6b-5303bb0a6cc5 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f0643c14-c8b2-4616-8934-560e5bbc2378 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2889ea85-e0ad-49df-b84b-5051ef49a770 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dd23a743-6205-493f-a6b6-850a41fb47e2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1d971bf0-512f-4a1a-ad52-c0270ed78d04 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5239a3b6-369c-4e65-94c1-0c83375e90cd phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2e667bd3-74cd-403a-8dff-9c2e481f93ab phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1e3d506d-3570-458a-84d7-3a9240bdee98 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6fa6fdaa-16ca-4dae-88e0-dca0c351beff phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8b765d1a-aee1-4eb3-90b3-5ba11c86a4cf phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:4c06fdf1-930f-4fc3-a3e6-8802ccfd84da phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:a377b9fa-4c31-4e84-b27e-94690f294ac2 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:02ae2bfb-f8d8-4506-88be-bc98bd84841e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:1bb2c8dc-bf1c-406e-9d32-19e904a732cc phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:de071e76-6914-43c0-abb4-f864442c36e1 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:76e1ee58-4554-4006-86b7-96485f34a309 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2cb02b4f-1629-458c-b25d-6513fb7eaaba phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4a23e724-5dc7-4386-954b-132fe0975345 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:43ae793f-b74d-4c1c-b701-71414bb577fa phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9b26631b-7be5-48ad-a5ed-59d70b6bdc9e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b37b79a2-fcef-4e82-9b0d-1533ead7e437 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ec84a56a-a0c7-4e85-a1de-c6b8e3d34c07 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3145bb94-1a3e-45b7-b343-5b66a0a15ee3 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b540566b-e918-4f61-81ba-26547bf68910 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P47Y infores:phenopacket-store PMID:10580070 uuid:51dd4102-90f6-48fb-bbc9-14c8b2b5874b phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:db48aa2b-c4d1-4f3f-a710-1f7a0240cbd5 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:37843397 uuid:55a014e9-868e-4436-9928-22958fcd588c phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2c92ecff-5147-434b-89ad-359ea8682d53 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1554e9b4-d224-4e46-9751-ce063defd1ee phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dfb3ad08-d279-4966-a248-ae51f75271cc phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:da9c3cc4-b5e1-4a43-91a1-d1623a78a908 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d51f09e5-fe54-43ce-9e68-088e9753f575 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9c98a45d-2e71-473e-a905-4a47146029d8 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a0e38704-71ca-4d4a-ab0f-6e71fb0b63ce phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0c21c35f-b018-43ef-9d18-c5c7328b881d phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c8174561-cfe5-4f50-830c-ad2571ebafc4 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4040464f-d667-4728-9a2b-2b2219d3ad23 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:60abb160-6bed-40c1-97b5-7b53c132adc3 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4fc5fe5f-e0be-4288-a140-a6440277f9c6 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1a040a42-8e30-4c20-8443-50340eb5ca4c phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:78da10f8-e096-4453-a580-0a6d5026e695 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e006bc53-2efe-4106-87b7-85744828fe1b phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f019c275-ea27-461e-97dc-77ea489dd251 phenopacket.store:LMNA.PMID_37843397_TR31 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:bbeeae9c-0307-4ed3-815c-82a44b10a46e phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4f30bb53-47dd-4967-a733-06d3dc756058 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:034841f9-d2ce-4206-b035-f03145b54ae4 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:70b6f3f8-902d-4017-af71-d5458732880f phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ed30945f-67fc-41fb-a16f-2f3d4a8e3f7e phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:638ad8bc-e9d5-4970-b2f9-5830a0099c31 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ea986042-e0e1-411b-ad23-06e1100deffe phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d121f9d3-30f1-4c9b-a555-1dbec184c06a phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bae4519d-4ffd-4619-82eb-67913563babd phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3c85401d-f376-4e39-bbe3-6510ffc70d7b phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1894adcd-e5e7-4cb9-9e30-04f23dca4d10 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5dec03c7-0546-471f-aa7a-c68b2a44fb9d phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:266c6faf-1209-4017-bfb0-8049f0c28fa8 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:48916b61-ba24-4f3e-98c9-151bb500d772 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:861bd34d-aa1a-48dc-829d-45ab1e7c925d phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:92cdb174-5e9b-4c70-a9eb-c8ca9912af87 phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:4c9acc59-4674-4d97-918c-99ecdccf79f0 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c2f233d5-a0f4-4ad2-91db-e7e4d35d9c7d phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1b4fe47a-2a67-435b-b744-e044c1b3c421 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:de133a1b-3e4b-4d97-a6fa-6b2861a7e1cf phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:363b3ff1-a75b-4e59-af6e-cbc1be2a248e phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9911c6fc-515a-4f71-b1ec-3e250b7554a0 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c9e706d9-14ee-4a99-9e21-6443b8f06ba1 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f15bb1be-7e9d-4dba-b252-7cb53249a0bc phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8d8fcf9d-d68b-41cd-bcf3-c7f40a611ddd phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:54efb6d2-fd75-4956-9838-58066b93c6ab phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2de7603c-3cf4-407b-a859-e5d4e38f7726 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d597b2e2-2948-4320-b4c0-b17cf59790d9 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:77bf6252-9272-44ca-a99b-726de4246f00 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a136d9f2-3d3c-4cb3-a0e7-33ff1e650cce phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:52408af7-22ca-4709-822d-4c3e14bcfcb3 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f30fbffd-ace3-48cd-9990-858601486965 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1786c9fa-3728-408a-a330-bc9cba721cd3 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:73454dcd-acb0-4ad6-8f5a-e47324d9ff68 phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:a7536c33-8186-4c8f-8ade-aae22bd77ae1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:0de4babc-dcbe-4618-987c-84e48c33edbc phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ca41c16c-0609-4653-8a55-7081ee8c27f5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a82619c1-6c7b-4f6f-b5b7-50511cfffc59 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:44238b9a-6af7-4a7c-8682-f997226c4377 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:48fadeef-80ad-4a12-a653-91ef3abcffcc phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:371e269e-8d8d-4d9a-b943-b7dcae8b32e1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6c544fe0-9d9d-4ade-90fd-86c7d42489b9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:60e0c15b-feb8-422e-8ab9-c5c1946377a1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:67922e6d-0b2e-4f50-9654-98d1f06b10b4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d5ef2993-32d6-460d-b074-f4892f53bd35 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:df57bb80-ecfe-41a8-9fba-c785352230e5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1f28ed99-557c-4ada-9f74-f6c08ba5ef0d phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d54afc6f-f00e-428e-b67f-a497e40d0ca6 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a1a456b1-ce9e-4e62-a54e-cc6b176a1686 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f72da926-a64b-4d4d-a1fa-a689b6be8c86 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a736b9d9-d6b8-424d-bfdb-dd31e0aab2c4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3ae8d0a0-4a2f-4aa8-8f87-5b7a8a9deefe phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f0d59ba3-fa31-447b-893b-17a4bd56619e phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cca7cb4d-686e-4633-bf9c-137852894990 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6d6a3e6a-88d6-4975-b390-638b0ac781f1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fe4c7aeb-0114-4a63-80a2-c2b74b834b6f phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:368c3648-9ec4-45dc-9a5a-18b104658c13 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1a0adc59-2fcb-4194-9a3a-4bd6a2555e3e phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7c1b7ec6-0456-4f46-a728-9925a46e57be phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:46ea3210-1499-42c8-8e9b-888125d04eb1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b76e64a0-2c34-4d86-a095-ae6bff543375 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0da22827-ddc0-47c9-8818-2bfed12c5313 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e1773eda-dc90-4eeb-a5ad-dd710a1a862a phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4dfdaa3d-1c6e-4a5b-a043-4d49014ce778 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a481c110-ed71-4e15-9035-78373a57398a phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2f1b4171-2887-408b-b857-34ef1e8d17d2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6d9c6e28-4838-4ec0-a12f-338116d75cee phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:19c66c7d-a1f2-41e6-9540-53d7db49fc52 phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:3e0b0840-d866-4263-8ae2-75da77b860fd phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:86650d66-d9bd-4c68-98f3-c7a3080dc397 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:37843397 uuid:e57a2bb0-bcde-4a2b-bff2-a90baa4971f7 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:37843397 uuid:edc6a8d6-0243-4101-9d44-898d708cd6ce phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:712b3aa0-db4d-430c-9daa-b4de3659bc33 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:26dd060a-11a1-4f93-90be-ed84d412d205 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cab9d235-4c35-4184-b686-2884ff8740d9 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c63ef2d7-7ae4-48dc-8db2-b286fdf12cb3 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3eb3121d-c75f-4791-8edc-244bd36f3a79 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8118d6b0-bdea-4314-8760-4ee3a3122d2d phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5dc1dfb1-2ce6-431e-b5ff-6fdb203f9cdd phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:23b6d4a7-3dad-488b-8872-e174ee5ebc10 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:71b16bb6-4069-4097-b49e-50d805ca5062 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:66e1cf31-dbca-410f-9460-505756aae6fc phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a39cd5df-d767-4be2-85b2-e8d61a754d30 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3a9e79d0-3542-4e96-8191-3c9addeada38 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ffd1c345-529e-4ede-b383-1bb85b38aef0 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:0e7fd483-c2b1-46f3-bd63-829c3aea21c3 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P79Y infores:phenopacket-store PMID:37843397 uuid:e3d9e284-4cce-46b6-aed1-5924fa19f4f6 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a1f7a6e8-ff47-47b7-b322-a1c4b8873e2b phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:54006811-4015-4150-8f8f-cefe75e647e6 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3712106b-1ea7-4a25-aaca-88deadc71b96 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b5990375-00a3-4bd0-8133-61db8a00914e phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:288361e1-9038-4aaa-aba8-ddfe98968b2d phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:53d0ddb3-6d82-404f-a8f3-5ba01f130ca2 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b673a250-15a7-44a4-a7b7-c3250bcc8c4e phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9fe606ab-da47-4dd3-9262-dfe2ce83f090 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:92cb3647-e97d-4e22-94f1-94da963bdd83 phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:dcee4225-050d-45df-a964-7b554d763589 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:398dddb6-74d8-4be1-80df-80a48fd2863f phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:584834fc-0021-4337-bc9c-18803df5579e phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e0c611cf-2f50-4d9e-85a8-ac0878562497 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7bd5923c-abaf-4379-bb90-e54e159d5367 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:dd72e6f1-ce74-4931-85d8-57ce8e2bce2a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:70de40e0-cceb-41f9-96cd-fd11decee1f3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b270930c-f456-4ef9-81b5-492eb583d262 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7e55a08d-1e94-4114-9ba8-f2a92ec14c17 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1d6645eb-524a-4b54-882e-0f402137fe6c phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:cae7f376-a925-4b4b-bc49-c30941a8d1f3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ffcabd17-35f3-4c3a-b185-8e7cbbd92477 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:37336d1c-f894-43ee-b048-f5dad10b9e92 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:13c76cb8-fde4-4a7f-9f67-124e4777a343 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:709c5d27-515e-41c1-9c11-a56df4139f89 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8d50ac3b-08c5-4b64-a172-9e52b9708ae4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:03e311af-5115-4ee2-bc20-83daf854d48a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:873a0559-a2f8-49c9-aa87-e2e89a1ba6e6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:69aed7d8-4a59-4fd8-a19c-f49ebb26077a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e87045cc-69e0-41f8-ab30-b4844fdf2c34 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d2325232-a40f-4319-8616-9510da8a0641 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7aa32203-3f66-4e68-a29c-a68a568f0ccf phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:84af45dd-c5f4-462c-88fb-8aa9e0f37de7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e96c94e2-8469-4c3a-b56b-13a84569b7d8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2208d799-ead8-40d7-85cb-d0b0a50e9e91 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3e71073b-8713-4e74-9b4b-23b4c7e80f33 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cefa9eb9-d4ca-4da2-b5f9-507ca6f55882 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9bcebed3-3bea-4f15-91f3-2538928cee28 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1eca6848-36a4-46f4-b4ea-f233dd30299e phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:23502dfa-ad16-40be-bf6a-b7f596a5dae9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a46cb942-1a33-4c53-916e-6985843296a5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d5cc2cd5-44d1-41be-8b30-1430ab88a119 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1b415d7a-76b8-4454-b813-3ec98742830b phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:246cf10f-134b-4eca-8fb2-d761420fcfd5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:99aad908-a203-474d-8454-923127a60588 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:37843397 uuid:c8291d84-e4a6-456f-a966-5f1bae33e8b4 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1239451c-751c-47f3-9bd5-1f14daae279a phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4a4dc953-b317-43e0-9e46-9abce2309d3f phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a0b04190-44a6-4f5b-9fd0-4fcc0e00ad21 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7536d7a2-b01a-436b-9a01-3a859e24a3d0 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e8fd18ba-c175-4a48-a52c-a07d55890828 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7d5a27dc-18a1-49ed-90f5-a1ff87d075e5 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e50038ea-d3e7-4d0f-91d3-54a6311353a6 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5c13acff-35cc-44b0-9e06-d0871d48ec19 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7c3dc961-159f-4e47-828c-41fa6e86647a phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bd6c8c81-dbc1-426e-b467-968afbb13117 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f213c404-03fa-4351-a433-8fda4c9d011b phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be100636-d530-4561-be8e-c470084991a2 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b39aa1c2-7d92-48e6-9018-698be243f9e0 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:abc27278-a959-4b1b-8484-44f07f6a5ba4 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2d6e6fd1-f923-4e88-be49-2d7c895bcecd phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1e3e32ab-f4ee-4677-a0b0-d712c1630540 phenopacket.store:LMNA.PMID_37843397_TR22 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:71277e63-3c67-4438-bb42-82a5ccc6541f phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:10939567 uuid:51d351c3-e781-402f-9d78-d13a92df0b09 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:16765a50-7a94-4456-bde6-c09d68069f2c phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:16c78fb0-b32f-4617-b5b4-50f18c87aa7e phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:74672b82-9667-48b6-85e9-95e7bda55ea8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:956da5a0-b2b7-48fd-9dc0-bede41e468bc phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a98061c7-3da9-409b-ba63-6f226b0c782a phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:efff4a0d-ddf8-404f-af4b-3d3a64194ae9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ef7aa104-ac45-48ae-8cff-3110c66cd226 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5cecd8e1-78fa-45aa-af07-e16093c8fd4b phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9f0487f4-e055-4f65-b321-59e1b8ca0001 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b1d5c77c-0ca2-405a-891b-a4124271da6a phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:42874127-b750-44cc-ae19-2984c57ba766 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:74f1fe49-ab47-471d-8798-6b0e9aebe5fc phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9f462055-5056-43e2-8be7-40e4c16cd213 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:437ad370-ec63-49d7-95c6-6846a21274c4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d96ee34d-2ab1-4433-a497-77f0352ca5b7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:639b4b01-4f30-4281-85b4-f14de3986536 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9f5d77ce-db44-4e88-91cb-b001924dc211 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:68a22c81-fb23-443c-8976-62352ce5bfb3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d75b79fe-ff7a-4e79-88f6-1548516834a4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b052f08c-4edc-47f0-860a-d13976875a4a phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4b492cdc-dc72-485e-b639-f635a009d7e9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:13e47ea1-45ff-452e-9041-ad6781de50de phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:39e2c282-6585-4bfb-aca1-5c97ef71003f phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:78c8b1ef-4005-4e8b-aa05-c85a36dc39d4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:62612cf4-3e9f-4c7d-a8b6-ccc6060ead30 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4c34370b-676a-4f61-8813-9f88c50c945e phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8cd5468e-47ae-485b-aec8-619a8a607832 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0cbeb93b-afa8-4243-a9a5-ce7684aa322f phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b728efdf-e446-478c-b5f4-32a0b38aa41d phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7c0b22d2-b91a-4bc7-890b-a184aeaf5852 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8223f24a-6e36-4c3a-b2ee-e7b893b51b6a phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:40a43387-1974-4136-94f5-67391bac9354 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:392ae580-f1db-4835-8105-50b6071bd8c0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:10939567 uuid:7b820172-4a8e-4576-8ea1-a2d74814ca55 phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:52fd5d87-20a8-465b-8cc1-57dd79f706af phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f823c156-4647-4ce1-a920-cec1b2fc5b62 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d427f80d-a5af-475a-858e-3114b179f217 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2e157e57-976b-4177-83a6-a6fe55de4fb5 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:07ea7133-838f-4934-91ab-0d72533ce304 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e701948b-90ce-4bcf-b8ea-7585afd76b46 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:01aa2f5f-88c2-4448-97fa-158c9db4becc phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f45d6ab3-54a1-44b4-ad42-8a4e3f9f4e06 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:00a524ee-be59-4b35-8199-acdff0116401 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cdfb75a8-1249-4139-8737-b30fc5251958 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8d7886fa-d2ca-4fd5-8fc7-f6477ad1c671 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d47afdbc-3ba9-48f5-9f3d-b6d29416c945 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5b90d13f-3d34-42de-b05a-7f1a8177c478 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fc6842c1-ba33-453a-8640-f7a5174c7187 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:48260b28-dc4a-4378-b5d1-737e3538ab6f phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3c65a9bb-51ca-4a9f-92cc-49027e2558f3 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bfa95fd8-03c7-47b5-b71f-4f962adf1a07 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:001bb31a-796a-4286-9c6e-33cdf17f01a7 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:38855b5d-7a38-4242-8217-39e5d05cff10 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:134df270-07a0-4aab-911d-2774ee01349f phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6e71c2b2-cf7f-462a-b0aa-e740bd2a2d8b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:da5fb456-45e6-4a00-866b-9884cd2913d9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:def542c8-2072-4d29-8846-bd10861cd8c7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d44b2819-cc50-401a-a3ab-684ce2e3648c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9eaba993-16f0-4cce-aa76-b09d8977719e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:34960903-8a9c-4c5a-ac0d-9c9928f94dda phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5ca97047-33ec-4511-b62e-b8ddbada8695 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2f8c7b8b-9edf-42ee-8b04-a7bc3ceb0512 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fd07da24-52ac-4c25-82da-3eb68d2207bb phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cc661d69-f494-4877-a001-18de1aa9a91c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f674d55b-6a6f-4ca5-b899-75900414745c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b7b34932-6f16-4e9b-94de-f4579ff21644 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5b51b8ba-a006-42a7-b3dd-90133d95d1a2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f98a0c7a-33d1-4ba7-9c4e-5dd4904fea48 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e0f0eb2e-86d4-466d-abdc-591ce5841761 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8bd93305-0366-4945-b949-8467ca0bb69a phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e66ebc95-b02c-463b-906e-9458a485f06e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3820221e-fff1-4f4b-97a2-67847d06bc96 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fe417d39-b5ed-48fd-8a73-48d18af905d5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2626986e-d396-464c-8582-ad6d5a0aa4c1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8818f433-dd38-43bd-8b86-10a882138e24 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3c1ca6cc-513e-479d-bfc4-490dc034c26c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aa827327-af3c-42ba-b46b-f1a6dcf67382 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2f444093-85e1-413a-bc64-e1f8f1d7717d phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1a91f9c7-4712-43ac-9d29-fe3e05552f8b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7bfa3200-4e01-4f53-bd05-9f050252bf14 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:886ee448-9440-4ad0-8d29-f4aa256e90a4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a3aaefc8-b6dc-4352-b39b-813ac262f56f phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:445c939c-110a-4003-8c84-61c1e7e4cf7d phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a127b732-679c-4b30-b7b1-7a80c843824c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:10939567 uuid:6d00424a-5ccb-46cd-8d27-9b2677be154b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:063623ea-6860-4c74-b6b8-9ebf87272aa4 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9f109e47-05f2-429e-b497-45d0fff874eb phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6af52405-edc7-4273-adba-74fcf2577976 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:579a416e-5ade-4c34-b773-aac6ddefdce8 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a97e5148-9316-4421-aca5-27256fea0530 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a04a8eec-a3d9-4f09-8100-d96e9ab60ecc phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7ded4c8e-e359-49a1-80f9-fa387b33cf48 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7a2c2554-a9cf-4837-a52c-2ee4e856dd87 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fcdb231e-c36d-48f8-8d06-e1dabd2c7dd4 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2773d4b2-03cb-4b69-b2f1-200b3a9b8562 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:31e242c0-bc89-47e6-84f3-e334a6984926 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0ad8a587-f6fb-4baf-988a-4d27c478065a phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:92be3645-f048-4427-814b-d0ed956fd860 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0699a543-52cf-41e9-8b10-e03fdeb0e23a phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f640c2a1-41b9-438d-abb2-3093414663d5 phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:03217f4a-840b-4de5-95c7-53ea64a4cc47 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:37843397 uuid:fd7d7053-c0ef-4a1a-a10c-aff4f2d5107a phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e2dcb0ba-0d17-454b-b701-04a1ecd98b75 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b721ba82-2f3f-4056-8588-fa07530244fe phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:24b3ecd6-7add-4528-a651-cfc6c7b625d9 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bc30e63b-b30c-4714-b066-f32bdd443f74 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e4bb7c35-7ab9-4576-8b93-01b83fe2e252 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:34e2c5f2-6490-43c7-8406-6e8bf60ce226 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f11dc358-151f-465f-b09e-d43ba50d15a8 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f6d06cb8-ddfb-45e1-bc89-46b9d97319de phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b8f64203-11ad-4228-b4c6-3b85445a513e phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1756f550-7cf1-488c-b87e-e5d07250da47 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ddd59173-fc3d-4b7b-bc34-0421071b46b9 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:49b4e998-5d91-4845-99c6-95eeb8b06ff7 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1dda869f-5a50-4bf4-98e5-e7bcc989b54b phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4aeb195a-172a-4cdb-bc45-21c0f7eae739 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:71c57bb6-53ae-458d-90ec-9a0d6c405172 phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6c587b9f-2f73-4cbc-b437-7132a429201a phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:37843397 uuid:2c189ed9-4126-4948-9dd6-48e833b0de7c phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a3c2d4a3-e477-4980-ab42-23942d1bcc4d phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:012e95d6-23d3-4408-a551-19c1210d73a4 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:62280872-3a82-4e11-adc7-1145779eb468 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:396d4d21-ed4e-418e-810a-2649f6af480a phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f9193e6c-909b-45f9-8002-77d62f7eb7be phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a4bf632d-72b7-42f6-ad06-43f0f6a92a82 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:def2cd1d-6776-4b3e-890f-7da766f28387 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:09f2bc75-c21c-42e7-9e7a-d9b3f556ab9b phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:26277bee-b32c-4f82-935a-51fb8a097e87 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8606bc83-c41e-4290-b5dd-ff9ba913035d phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2a1933e9-e25e-46c5-a562-857177bbb8f1 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eb3b3d78-7baf-4d3a-a5a6-abb81b5dce19 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cb61581c-964d-4ae7-b3a0-9d9fe91681ab phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3aea3ba9-f3f5-4def-b14d-a851b97276b5 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:34eb61d3-b4a9-4edc-b347-5ca1659e64eb phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:836092fb-1b37-4511-a729-5cde55d5eeb7 phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:87ade19d-fa87-45c3-af40-f27bf25740cd phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:37843397 uuid:5fff283c-4935-4d7f-8ca9-f32b8e7516f4 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37843397 uuid:ffe77013-1ca8-40c7-b6dc-7eaa0503facb phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d6ca2a86-46d1-4874-a0e3-42de60810916 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5862a8e0-fe5b-40ed-9e5d-4c3d6f750de0 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6d22dfec-1bfd-4f5b-9668-1bbab4da489c phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e3dc650c-9948-458f-97d8-c803d7a4cd99 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b0bbe799-6ec7-41c9-9e05-b2e204257c7d phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:22ea8a93-829e-4a50-a339-6c89df73ef81 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a364a863-c0cd-46c3-b595-9f81fc26ee01 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:38eb8b63-900e-451d-96cb-0704229f9b35 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:343a444b-f757-4e62-a1c9-f02d26f878f4 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6073e243-7d68-4da8-8f69-8729bdd9f751 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bbdf6916-71ef-4c28-8f5d-c0f6d9e1dc7e phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7ea6ead3-da1a-47ae-a526-48e870f2e0ae phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:91e14b75-1c1b-4ffd-9b77-c72706b7386a phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3206f9f4-7fee-4b53-ad2b-a097960ae7e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:03b11c3e-1a1b-4329-b1f2-9f1d59d257b4 phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1426a181-0f4a-4fb4-a5aa-b5d614609b1f phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:10939567 uuid:c173efd2-21fe-47a3-9feb-90555f8c3f84 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0f0bd7bf-f354-41a7-995b-c4eeece567d2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:afb0234e-8cfd-476c-abd6-ce8c2a9a5ab3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0595ab66-39fd-4707-aed4-6ee6dfc70729 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4f13d11e-aa03-4242-86b6-e8de6a96b74d phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:df465700-9db4-4eb2-8ed5-73e54eede650 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e3698d9e-2d95-4781-b26e-17aa3b1bd32c phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:85c70104-52c1-4fce-b00e-1f86be9378f9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5d77f5fd-cdb7-4b9c-873f-1a5bb9c6d0bc phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:79bb5222-8da6-4b9d-93d3-666c8198c572 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4fd20604-baa7-45e2-9860-517a2f0a211a phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ee039389-8b22-4475-bbca-140bcf5efa91 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a1cf2c7c-21e8-47a5-a9a8-f792373619e7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:207178c1-dcad-4a8e-8fdd-1214dab3c5e1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e2661b2c-b305-4a46-9fbe-c573d4b28b55 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1e2a9d9a-a778-4529-b477-f08e7ba75598 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4f525202-9f93-472d-a920-97c8afa194d8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:02611e3e-6819-4ed1-ba55-a870b2f53b55 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:afe67dfc-76be-4638-9c40-689ba0737f32 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:234cc00e-6c0a-4ea7-90db-89548c3f28d7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e7c00d54-b54a-4939-8c89-b2065a514bdf phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a43e3d52-dbfe-43ef-8666-8981ea75a525 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:13558b70-ec7b-4fd5-9ff4-24aadb955960 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:be452b64-8b5a-4491-91af-da47f33ad187 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:889e1d19-05f1-4169-8b79-99b781a0bcab phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:80ee411a-a0b1-46cd-bb0d-9185a0e4b9d7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:37cbdaff-e311-4c3a-8022-66380f10bcae phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3f2f680b-979d-4df3-83f3-5835db9c1df7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0b6b9dc0-7341-44f3-88a4-c4054d4c3493 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2cd7c87e-972f-41ba-b57b-30bdfe524cde phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:21e23f1a-61ef-4529-a802-3d9ae004aec2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ca39b602-1386-422a-a0ce-7a0425ed6814 phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:10939567 uuid:1b091cae-320f-4773-801c-670944d18c0b phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:261df4af-3ff4-4543-82d9-e99bbdb9baa1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:10939567 uuid:9062065d-9210-4e31-b610-4d59deadf6a0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c4cb5b26-2440-4f78-8e21-f532a08e7921 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:fa56ef0a-3a2a-42f4-99c7-d707a7c3fd4f phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6c258fb0-bd5c-4b46-bfb6-1ce134ebae15 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7b002e3c-02be-4793-af2e-b7018faa968f phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:933154a4-ebe5-47bb-8759-dacdfeaf35e5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c80208a8-cfa0-400d-a566-c72bd20a0b5a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6ad1cd7a-d117-48a9-b4db-8d89640b4617 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4e67aa83-a499-44a1-b2cf-7a16c9bfd4e0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9313859e-d5ef-4488-99fc-9e9da4859801 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d462b2cf-94d5-44ec-ab82-a6f5812c88f0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:adc79a74-70c1-4533-8f38-0c73c98a0d04 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bc975f89-cd35-479a-a46b-7e345f75174f phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:46b31b35-06d6-43b1-8e10-e8db31723356 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:02b32816-eb0d-4d91-979f-98117e684dc7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:19c88495-0135-4f4e-bb7f-cc9751ea9b13 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4e9e9ac9-0ce3-4ce2-a0ac-ab0fb22da63b phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9be755fa-b5be-444c-a8a6-65b8e09604cb phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a33570dd-c643-4fd5-921a-78c438dd3cbd phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:64670822-54a0-4d88-a12c-752ee54cac74 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ffa0f4b1-eb11-40b9-abde-a459a402de58 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1866803e-8285-462c-b6af-23103ca361c0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c3e040b2-12d0-4e51-8243-71323868a736 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:02479c72-6b45-49d8-bbd5-e4a9a1a4b21c phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a0b67a74-e591-43dc-bdea-e083cad1b585 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d66e868c-335a-4d13-af28-1294f9c48376 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5a6aa992-b4bc-4c13-9243-7ab91391d1db phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9609edb4-61db-499e-9090-b7545aa9bd22 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a3da452f-2121-4778-9461-7d4f28160531 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5f57cfa6-fd97-43ef-909b-77fa64981ef1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0cdec361-e738-4c4a-8d72-f3bc1cba7a19 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:92d25e51-e573-4e5f-9836-0011b8327d67 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:06c3ee05-89c7-4f68-bf6a-2d7ced56f623 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:10939567 uuid:4e0641f0-cb37-4b61-8178-342d4bf56592 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:f01e0292-720b-41dd-a502-74ef6ab60577 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:37843397 uuid:ef9ac4e4-71fc-4b7a-9be2-cbe72e0acbc1 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:688ae54f-c453-4233-b2bb-15cff7f83802 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:75794e6d-5698-4e1e-8802-6bb49348ad29 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e85922e2-71a7-422f-bf7f-de5ce2af6b0a phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0ea38514-00f1-4c0a-b649-f184616c24b7 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e7f6fa3e-33b6-4fbc-a90a-d98152398ebd phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0d83237e-c2f3-4619-9bef-99a0ec67c4bd phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7d3a44d4-160e-4ef7-af07-b6b2866698aa phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ef1251a8-114a-46d9-96c2-2eca703343fc phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f6e26bdc-695b-4248-bc21-139fdfd1eaab phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:439d4bda-aec2-45c9-b8a1-2f51fea6d374 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e1d39f9b-a883-48ba-b6dd-56a7f9626082 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e7885ae9-e124-43cd-a9ba-8eaf813da599 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:05d84141-0eab-4fcd-9db8-8fe1b5241402 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4d4e879c-b5d3-4188-97a0-d8ac7a56d8a4 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7f504949-e227-4ce7-979f-4c662e95b522 phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7f0bf2cc-32b7-42e0-b09e-f2483fa2884f phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6631a32e-2822-40d5-a396-bcbf064b3ae5 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:37843397 uuid:3fe8807b-f2a7-4d1e-84de-cbed59d40cf0 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a5e616a7-54f7-4091-8734-4562399349eb phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:336bb311-b35c-4e7e-954e-7ed7830b960a phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b9fae5f3-41a7-47d3-ae0f-7b58cabff4b5 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e929b489-c813-47ad-805c-c855cd74b711 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e66cc749-79cb-44cc-bb51-814516a7f857 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6bbe487b-d208-4f4f-a5db-e7d42f1824e3 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f513e843-f47d-435f-8cb3-c918def72144 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:764635ee-f886-4ae0-80f3-8646ea7e843d phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:12987688-1787-42ae-a735-923c235d427c phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f715af6d-cfa7-404e-aacd-53b03f50eec9 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:400d3d33-2cfc-4f26-a9ac-7f145db6bdc9 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0bc097fe-4fca-4f9b-b450-3b2f3411980f phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f500256d-8a68-49d8-881b-4f98c7ec3e2c phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5d70c2ad-d229-4b02-ba91-0256ee1dfb4b phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3d0dd3ed-3eaf-4bef-81f6-063156334705 phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:0e606653-902c-4a33-8280-7c570c7ac2d8 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:b560ca68-7580-44c9-8076-6cdafe99a176 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:912489fb-2c78-4cca-9b99-eb6ce6a27f55 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:0da4e0e9-70ee-48bf-932f-e00c1025d76a phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:25c777c9-c7ce-4c72-a11a-0d92f647d95f phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:55e562f9-9de7-49a4-93d8-d095f99f36c5 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:439084c8-4b0c-41bb-b05d-360bac609b8b phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:60d6b96b-9404-4f6e-b2ff-482b7ba97a0e phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:dbc67bda-69fe-4026-b43a-9bd89c576651 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:789967d3-7f9d-4746-84f2-b4f21b1cd35b phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:1420f7a0-cdd3-4a39-b76a-a7ca8a005eac phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:732ea529-c3a6-4720-b6d4-a890e9ac8e0e phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0032234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:eeb76d1e-53f4-406e-b98b-edbb9ae3d1c2 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:619cfab8-c6df-4e25-8b3d-e7da34bb8cc0 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0011711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:3686d2a0-6f43-4c1d-87c5-9e5eed460e15 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:202e81fd-0ff5-452f-8b81-0b6051ff5d5a phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:d5a83409-1221-4371-b083-4e5bce8c0a9f phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:4e517ec6-1ec7-42af-b981-e01cba16fb9d phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:85873b63-54dc-4628-95a9-daca5806f349 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:59e7fb73-2c20-44d1-8675-e165512ee375 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:f9cc7a58-00db-4cb8-8fe1-e64267e6392c phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:1a09d967-16e5-499e-a761-075ba6a03e6c phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:b0ce598a-3e6c-447b-83aa-9a600dd1474b phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:10662742 uuid:32d546d7-7a4a-4820-8ecc-5dcd10ecdc10 phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10662742 uuid:8a253440-bfa0-41d2-a511-fc10677e358e phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1d593384-c66a-498e-93c3-90f4c40a4986 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:66e1940d-d56a-4dd3-800a-9312fc7f73c0 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a6c3947e-3c91-40f3-88cf-aba0875db90c phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2b594291-aa9e-41fe-b0c8-c0460ba9a1e7 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c25af2ae-c20a-4a1d-a8c0-6be90b2d8708 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:96c47db9-3f1f-4818-af80-5a0e5d5c4f18 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:30423832-7104-40a5-945f-1ad4cb0ef961 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c06831f9-7dea-4d1d-a198-5473a83cdbe7 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8d85b18b-d8e1-4859-b10f-0963f183d6e3 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:34859922-bbc1-4453-8a92-39dfe2064e43 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:91aa45dd-dc5a-4738-9822-15a4b850c7cd phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6afa6312-02e6-4006-8ab0-7f85f9aaeced phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d43942ff-1fee-4c12-9838-19f7555570c5 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:04841ca4-efae-4eba-b970-5a0bcd7bfe5b phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:59929211-e4f0-4a43-9506-4968c201e497 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9494f5e0-94e7-4f53-9a52-bb23dae67700 phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fc8d1246-115b-4c36-aaad-dfd86c44873f phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:e72b421d-bd80-49da-bd76-87af0901c202 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:54d153e3-0ea0-46b4-8218-083ceaab2837 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2e9e3427-d868-4fdc-b1a9-218ab1807e38 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0ebeac34-5166-4fb9-9ffa-afc21073bffa phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7421abb5-56e8-4279-8cac-5d816753a9e9 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4bcd8204-db6c-4e74-b06e-a7466369c760 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d94f3d79-6590-47a8-894d-859e8be6ba5d phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cd237da7-6ac2-485f-91f0-c920bbc69cf7 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:62924149-301e-4c44-a8c0-4364ced70474 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e4f3b0ce-f573-412d-ad78-d69ef69e8eb7 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1be7fec2-cf0d-4dd0-a18e-28d7e45ea239 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f3bf0306-03a3-4213-a464-08377dac1c62 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a6f95443-3f41-41f2-994d-aae30a801858 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7fb4d820-309b-4b89-a88f-c583ad99944f phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:438d6fb0-38f4-4a4a-ad6e-22f7bc6dfbe5 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e45c279f-800f-4d5c-a4ca-d60bad4c33f1 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:10580070 uuid:c71992df-67ca-4bc5-958c-e7eeeafa286f phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:315cb963-3666-409f-ab75-dc88d0653c02 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:37843397 uuid:00f95b1f-74a5-41ab-9d49-038882781878 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bb52cc17-f111-4eba-9b34-fadea78ba760 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:04eaeffd-b8e8-435b-9eed-b600ac2eb9da phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2f4b24ba-abc0-4279-b7be-2952468d7369 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b0b66422-db81-480e-a435-97d8df38b35f phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:05787eba-8e07-4d57-957d-58038ef57cb2 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1d507f6a-1ac0-473a-adba-b6802820c39a phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:90c19b7e-03f4-434a-8302-d0f5f7cc9253 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7e2b2a75-54ce-4af3-8b0c-565de8f7094c phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b22c2992-c340-4fa5-ac90-b225f7b66748 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:95dd2e42-3afc-4fe4-b5c8-9acd8dc730dd phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:82ebdd98-f48c-41a4-a55e-324c5092c130 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6c200e59-e977-433a-8282-05ed0155afdd phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:aa2e3bf9-e772-48d5-9d10-e612100c2d74 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9034b33d-f962-4a85-88cc-aa006d06262c phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:062dc163-1b85-4dda-bdea-b247e5ba911d phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:48032e1b-1587-4658-bc31-95e43b8ce4e5 phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c8fe72df-538a-4fcf-80e0-16ffc32b5ea2 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bed2a943-392a-45a7-aa27-e4d6ba1cae4f phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:30aec5b9-69cf-4961-be17-dc67285c8061 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:566321ad-6882-4068-95cb-5934401e8de1 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a5c1e789-6922-4f68-97ca-9422a1bc2411 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f3a3bdce-0db3-44ca-8fb4-a0c9abdd9540 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2d825ec8-e2d2-4c41-af6a-0745e893ace2 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8b517e4b-b3e9-4c50-ae6a-e45f312cf360 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:265ec781-79b1-41d5-8939-095709f0dd99 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:51443c67-be4f-4200-91ee-a56f3fe5f953 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e74029f4-cd5d-4288-9afb-e23083cd2d56 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e834bbda-7eaa-411d-bd74-5169d7ded1ca phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d8a16d0c-f9a2-4249-82f3-0a13fa44d0ae phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c79c588e-17ab-4094-8e6f-cb299a624439 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ad83a24d-d361-4425-83fc-1eb359cf5a1c phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:71dfd832-88e4-4f00-a1eb-8cecbf3c01c7 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:aebdc962-57ae-4045-b0fa-8b76d665c2bb phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:241c1a09-feb3-4cd3-aa67-592c3766c467 phenopacket.store:LMNA.PMID_37843397_TR8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:1c4bdd24-0ba5-42ea-affe-9cb66b972b6d phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:37843397 uuid:70c0e802-e10d-44a6-ab53-de04f5631f47 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a786e33b-4223-4e5b-aad8-b1e4d9c7a9eb phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c9718ea9-6995-4c89-876d-79d20360c4e4 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bc899824-2dee-4d43-bacc-a7c540ff4dee phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:68cd4a7c-0340-4ce0-858d-f0795b7f3e19 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9f9f3e31-6daa-4f78-9421-617bc3dbf7c8 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:77ac6c58-0425-401d-9526-7003e75a4968 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8bd3d8b7-3c11-451b-8ceb-eb52d27130c3 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6be00309-49e3-417b-976c-5acf5e991f15 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e9fbe133-af55-44fb-9ccd-2a603064276a phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e9e9553e-2e52-48f5-b994-47f71a9c39fe phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:74a77f4e-f19e-4806-8f90-7071a2343d6e phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8f3cd473-bff2-414f-9d2c-6ebbe3d839b7 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f74b0c17-2647-4a76-9c95-842f46cdf9a5 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5b46b5d1-96c5-4b35-91a8-17ffbd00c518 phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:58e0e94b-9dfd-43be-b49b-ceb2b8d998ea phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:27bbb518-a4cb-4d3c-ad6b-d6f53f3f1dbd phenopacket.store:LMNA.PMID_37843397_TR17 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:50aa7c2b-c1e3-4981-bc40-e84a96341234 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ef7367b4-0291-4efd-95ea-a768b0a0742d phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4a1e38c0-b0fe-46f6-99dc-a80db994c816 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4f7744a7-8f14-49b4-b0ae-71acb9fd8357 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e339a5f2-229e-4e21-98bd-fc2dea688e63 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b08bc04b-127c-456a-9e81-940fb4aa92b8 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:937a1d47-fbb5-4e83-8b73-a633f2ef3604 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b6e39fc1-8b45-4b5b-a01e-ed3bb1841c93 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:95abfb97-406d-4879-9280-8d9921716ca5 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9a809a4f-2db5-47f3-b8f6-f78d9d19e327 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:50819db9-1c07-440e-a990-604c9a230c42 phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7b795025-e6c3-435d-88b6-23644a2b7851 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:37843397 uuid:914c9597-2574-46a0-a0ce-c4e4fc70d9e2 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:29d62dda-b73a-4221-8899-08023ba9c068 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7b4aae85-08eb-404a-95da-7ca02435a888 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3a5f3414-2f8d-4ed8-b544-a4cff42a6d57 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c2b32005-c65c-405c-b992-4287e610eca0 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8a7cdcd9-220b-4964-85d7-4459fb4d7a5b phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f04f29e3-9f44-48e0-a458-dd71f12d1ee0 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2c65367d-9fb8-4920-9ffb-fd2cd26b1e97 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f440b173-6568-44de-b2a7-b1f794636bbe phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:475ed2c7-6119-468e-b328-19112727effb phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:571dce08-7ca2-4e25-9e21-effcb81ce0d4 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:12f7f051-b616-479a-893c-dc08dbfedc62 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a43d7471-178c-4e68-9c5a-2e3f353693ba phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:79880529-8749-4ecd-99a6-4c1c514bd11b phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9c88f774-e91c-4b42-8fb4-12914c8ffbdb phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a88c5fae-9b31-4192-98b9-e62b9c5b0db8 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:5e97ed21-3922-4bdc-9596-2295d9bec914 phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8aa2070a-94be-4c98-abf1-a495894c5c80 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:cae5e501-2e55-4764-9d2b-eee5ee31df2f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:cb479347-8da4-43cb-85f8-0fce9654cec7 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:88048919-cf60-4ff6-9e31-e3411c200a38 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:3eec100e-320f-4721-a912-7bd2769d1a12 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:103223e1-5817-409d-aefc-503b5c841c1a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e6c8760e-6122-42f8-b84a-2e3055671074 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2aaebd51-d2b0-4824-b0ad-df4e31268ef4 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6122ab47-11dd-45cc-8e87-13d3b81b4eef phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c4e88340-918e-4ad2-b0b1-db29609951b1 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:672c0088-d5f2-4709-b74c-26b417cf8a58 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3ffcda75-9527-48db-b6e6-22fe4d77ecc5 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4f8a3aa5-68e2-4b71-a30e-4e5f5d7e8d7f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d3863174-1e2b-4833-acfe-f542d341de3a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:743fad74-d88f-4a54-9ac5-871fc5d853a8 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:10580070 uuid:b4033ae4-5ac6-41bb-9edb-8d9df42885f4 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:a32083ef-5c03-4fe0-834c-71c5252ee03d phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:78f5855c-aa5c-40d0-a9dd-62f5bd30cf89 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:90a6b19b-7064-4e72-aaa6-31bee3349e40 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:da284bdf-d79d-4c4e-a3ba-e41530adbf22 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e22571be-c68d-4df1-a569-72bdbfe5162c phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0408f787-c292-45b2-90c1-a6ac133301f0 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:64956b36-545a-4c64-a12d-70cca1c63204 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fbf6e4fd-2dc1-4d61-8bf2-a24b141a86a2 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4c2abed2-47f6-4765-a222-b165dabaab35 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2d442abd-fe5d-4740-ae2e-ee52d4922180 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:65de8bb4-88b0-4b40-b2b0-d623459eb29a phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d6d6b9ab-822d-43ed-8fc3-25e05ce7ab54 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3f157a98-a790-4ffb-b6ef-fd536330ff53 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:98debb74-a551-4f79-bd30-15e561358b29 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ef6575cb-2886-4824-91de-8e45efb70c45 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:27c5b4e3-8948-447f-bb46-48e75d0b0c64 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1c6524d2-d547-4630-b230-2aba7651ec18 phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3505928b-caad-4a41-9eb0-20245688522c phenopacket.store:LMNA.PMID_37843397_TR19 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fa6583ff-60cc-4e26-8b20-36ee7f7d7cf5 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c47cadb9-052d-415a-bf2b-c4afff4e1761 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:30fc2a84-f599-4521-99d3-63ec38cbf63e phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c697bfb7-5219-422e-8063-ed513eec1af6 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:77744e27-0e7b-4ab7-8e2e-8001fcefbd78 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a91e39ba-3410-4211-a36b-f5c0bd389ba3 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e0b7153c-8c02-45b4-afba-e4bdc22643e8 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:78f5eb16-bd51-408a-a09f-8f5a20e58567 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6c3a8012-073b-4f89-a465-3d1f7ebf23cb phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6421157a-a27a-411b-bb02-580e37de40df phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9108a497-02c1-4f40-9bc7-30d836f1f2ed phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:3a63b861-127b-4391-b56a-129301147120 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:08f472f2-920e-4fd2-91fe-3cb5def1c253 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:2f740624-1f37-4aeb-aa05-2ee385bdc47e phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c13e6933-5e50-407e-b9dc-9d35e67edf07 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:189f8bf2-675e-4f49-afba-2bca70442ca2 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ed0e3479-94fe-424e-a00a-c5497a69c4ed phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:1b01f330-f5e9-41b5-9e78-21a8f27125f7 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ac106b50-05f4-402d-b621-c60c12bd7a18 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c6b7d6f1-a922-414a-855c-85864302dbd1 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:cfa3e746-c4c9-40ce-86d6-ee882fb5fdd1 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:82716d86-6223-4717-8ad0-5dd4428ee1ca phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9423d786-d355-430e-85d1-b87b959370c7 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d0abef08-85b0-47c3-9ede-2363bd7963ce phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b100edc3-0edc-4cc5-a46e-8b7e52b1b5d6 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:63bc17f6-cadc-49ce-838b-4407d8b8c212 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:38a76d8d-b2e7-4cae-9843-1bc430b947fd phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:069fe6c7-7714-42be-85a7-77ca648d280e phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d6ae8c9c-7819-46ff-8abf-bf995f7de7bf phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:24c3502a-c2aa-4b5b-9976-b85806eb1696 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b7bbae62-0222-4ef8-8230-f5b3c88bd55c phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:6628ecde-3a43-4632-b3ef-de41f04b52d0 phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:4accfeb6-206c-495b-8487-117090cde370 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:18551513 uuid:8db48284-2f6b-439e-ad82-c281ea4ae68c phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:90732942-7fad-46a3-9afd-369925a49151 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:1289c146-4386-4cc8-8d7c-bbf0384cc3a7 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:83326ed7-8cdf-4bac-9299-b5b9c7430f3a phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:5cc481ad-5a03-4233-9c6b-5558ef57b467 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:3aaa6ccd-16cc-4055-9a08-ef4f8e3b9f02 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:cedf5087-b1ef-4708-b59f-e7dbb873d2b0 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:79e28f34-4164-41f1-ab52-e7eeb808deaf phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:714a357c-fb09-4a38-a401-0289d6d37a24 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f9964bfd-135d-481d-828e-3396a790269e phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:e4a413d0-f31c-4cdc-8ea9-5e5e70af2676 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:1fe865e3-7e53-428e-b06b-b76abe64e063 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:8c6c70aa-4af8-43b5-9c79-f472e10d7ce2 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:54742d89-83d8-467b-9af6-a153117d0787 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:3f82e52e-c10b-4b8e-a4d1-dcdedf76997a phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c8cb5046-6c05-457c-876b-d681cd6a174a phenopacket.store:LMNA.PMID_18551513_2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:a047b57a-8254-457d-afd4-f9f11534fdfa phenopacket.store:LMNA.PMID_18551513_2 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:40c2f875-13fe-4b78-9b00-600bb4e85020 phenopacket.store:LMNA.PMID_18551513_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:6c8118d7-6fe8-4e18-b447-0b46a70534ee phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y2M infores:phenopacket-store PMID:18551513 uuid:887edd36-851b-46f6-aa66-2a2068b9d9ca phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:4287f654-e8c8-4b22-aef4-4922d20189a0 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:281a53ff-2e2f-4e48-a133-83f4866b14f3 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:0e4beab4-9c1b-4ac9-82ad-c90e2e1d2875 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:57162c60-710b-4e5f-8b86-8f4e3a061222 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f3b8f36f-ab2a-4350-a419-c6ecadf1346e phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:518f2313-c120-428e-bcc2-184f90b8e56f phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:acbf659d-02e6-47ac-b8cb-2ed74d36f81f phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:84cc7617-7f24-434f-b681-3cee4f8dd39c phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:3822a9c0-37b8-45d8-a3ae-4682f8135e71 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:ebd9a1b3-c675-4b9c-9f33-ff7314f8738e phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:1d14b2f2-b746-41c1-9699-206068126e88 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:6d6d7dac-ca44-4de3-a380-f973d580a60c phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:43371a8c-d7b5-413c-ae59-a328af194bc5 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:6181d1e9-10f7-4061-8f4e-66fa97bb5a2c phenopacket.store:LMNA.PMID_18551513_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:668d42f0-7e65-475d-99c8-4744cae5f348 phenopacket.store:LMNA.PMID_18551513_3 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:dcee7e34-c460-4e05-b10f-4f221bcd2c0b phenopacket.store:LMNA.PMID_18551513_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:207a8b08-fcc6-4c1e-b4ce-03d894f8217b phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:10939567 uuid:43baba8e-91be-4ac6-9bd4-6a4c99c3a77b phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d544ab22-698c-432f-91a4-c8b185891e1c phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:fa12690c-455a-4e51-a2e9-a4e8dba6a2ad phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:165042f3-3477-406a-9270-ec4e46fed009 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:96904485-96c2-450c-a0ce-cad23902aec9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:4fc58378-f86e-42e7-b54d-b48c4a072e2a phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e7be3f98-976e-42bd-9c72-1e79477b7a5e phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:dcb92dd8-50d6-4bfb-9d36-c2e4c125792e phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:37553937-ebbb-4efd-ae0a-de313c82711a phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bb403ff6-8839-4ec9-930f-a7e031138065 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:51961223-8517-486c-a408-adff8ea369cd phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ed88b66d-a8cc-46bf-8ed8-e9cf157a41cc phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8a5dc064-e893-42b4-bb50-23f8499ffacd phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b9338000-b011-44b1-a46c-efaaf21a97bd phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e1a747b7-4bf7-45be-baf1-715198d08df1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3b9d7c87-e959-4251-a448-c134a8a04c39 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4584e3ea-2a86-4cdb-856f-2845ab2708a0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9d015ae5-e11c-4c28-8946-ecb8e2ebb274 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bc942e0b-03e6-4d58-b7e7-e47835af313c phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:432b3690-95d7-4d19-a1a2-0c70d8b46242 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6b3af8f0-0102-4af9-9f57-a1f92f077f8c phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bd7400ac-916e-41af-85d6-58e5c0c7f6ea phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d8472d84-be5d-44d3-a009-0bcd90e056df phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:42ee22ff-135c-48c5-8c75-f040f71f0683 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0a22225a-8429-47ca-8fec-956ad15306d6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:32658f21-1fe1-4efb-9b72-452dbe2bdb32 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a5f6bf23-9437-44b8-ad89-7748843bdc5f phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6ca42279-2312-486e-8d49-5ac371d73b32 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c442c6af-8854-43a6-8ac8-b076a2152526 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:05cbaf61-852c-45b6-ac8f-6acdf40dbcbf phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a16701a6-6bb9-4ff6-bc54-5fb0fe3acc95 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a1bc3750-bada-494c-915b-f26bf4fa39d8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:10939567 uuid:2d439028-6da7-49f2-a828-5060c132ba60 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:ac9f5cb1-a897-489a-b210-4f43306baf00 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37843397 uuid:b86119de-b33b-4543-a117-ef242f7538be phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:60b85120-c4d7-4ed7-bb1d-082d7be18744 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7e7fc3fb-1ace-4444-92f6-7a31c476177f phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c41fce11-8c5c-4de2-9043-353fb3246530 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d69d8e74-7681-47e2-8a47-0f61e4bb51ec phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b7ce57b6-00c5-4005-9a5f-8dab1613b5ab phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:df6f940b-e441-400d-ac09-a6a9b8415d02 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7b3c7942-fb1d-4679-bf6e-b78493e3cea9 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3d9aea59-d3f8-4066-9031-9b30875dabfc phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:003d258f-6c0e-4edd-9248-c6a17ad3c601 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cdb500e8-aa1a-4ab2-8866-425e0091cd4d phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d18f8d2f-d190-451a-a4fe-2a1da8e2bdcf phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c943358d-0cdd-44d1-a6f3-aa17e9db1663 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:be10759f-fa59-4dd5-8345-21f24f70c829 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:e5c55e45-4a3b-4c47-8b2c-0cb20b9b2e29 phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:acea94e7-b2e2-453d-aee8-00070ceb8736 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:34ad8758-83b2-4075-b093-e11360e92320 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:be2c383e-d261-42af-ac30-b802e760c54d phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3ba33869-f97b-4576-9d00-91fabed8b3f7 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:422ac5b7-594e-4c71-a9c2-bddcdc3b9f3b phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0126d266-4f72-471d-90c1-31c52b9f5b30 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6e1e514b-15ae-44ef-99e7-84fdf2b5c191 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:fe7c4eca-bf45-49c2-b37c-c595aededf7a phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:73a8ed23-18f1-4134-9671-e396ab1365f4 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:86149f93-8f52-43cb-bc2c-f51a1fbf5bfb phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b9e68ddf-ed08-419b-b7b5-b64240b10d59 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:188de225-4dbc-4c8e-a73a-d564035fa9ef phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4c324e59-9029-466f-bd4d-b64e4a69370d phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7c194170-10bb-46d0-b947-5e78a2e15cfe phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:32639524-be5a-4ba3-a7ce-00b5163c5b32 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a62cc6f3-096b-4fa3-af2c-c475e8affb08 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:10580070 uuid:2cc2c6ae-ec88-4ca5-aeeb-a04caf958cfd phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:df29652d-9e35-4d59-9925-e8818ccde7a5 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:81056dc9-a136-4ea0-b4d4-d913114b3143 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fff8f913-b032-4138-a5bf-f30fa62f3676 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:15239b60-5545-49da-b492-c398fd5f03f5 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:105a9415-1bf8-4c08-abfc-c81b4f69262b phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f4b5d158-2df2-4d83-ad67-28f0f4a8b42d phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cc006b2a-af7a-4f17-bfc3-3d2f4f6a0c2f phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2143079e-d05b-40a0-b6a1-c4fdbf93b264 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:053b66a1-8d93-4303-b262-fc13d34675df phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:804df3d6-745b-4690-9df8-3aee26b26eba phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bebb8b4e-4391-484b-bedc-ae687de489c3 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:303de892-82ea-4236-9200-9249c39f8bde phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e39b1551-ccf2-458b-9472-12924dd4ec1c phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:df0a01c2-5308-4c2e-b874-232c0e8f713e phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bb073077-407b-4331-86e2-b3ef06d1f9fa phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:71e31679-5672-43f8-bedf-d933d8b68e7d phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:02ba23d6-1357-434e-b877-f2c36f80a238 phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8053a91c-8798-48e5-8d57-69d08932ee57 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:ae2e1716-d4e5-4896-9726-694044795a2f phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:31d5ea53-510c-4826-8fa2-d9055036b9a5 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:291d7bdd-c563-4d3c-aee4-acb5308d5821 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:209829a9-29b0-4072-b524-73ad4fa3e8ae phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:47300db8-3895-4b78-94d5-ef6559932e67 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:65b3ba70-a386-44fc-838d-2bfed90889de phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:779f442b-f0ec-4da7-b2a3-d71ced5b8837 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:bbbd50c7-a684-4c24-b838-ebf14d88bab7 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:aae30fc1-4139-43cf-b26d-8739712b41c8 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cb4b0548-76fe-4749-b5d2-3b118ea630d5 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:88fa7aca-5809-4bdf-b535-1034f0ef301e phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1bfdd3ae-c771-4074-b90b-57d81a0592f1 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7f286d73-f14a-41b4-96a8-57ac527c06b6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ff5e90a9-7d83-4a70-a78d-bfb330fb258f phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:76999119-def7-4e95-a9fb-60de91a3ce5a phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fdb7e402-eb0c-491c-88b4-a539894dfd6c phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f02488fd-85c7-4b70-8bff-2472913554d7 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a320e121-b945-4982-a8fd-77c162d43ce7 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:1f029be3-bc21-4fed-96a1-3c1b4879007c phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:c64e485a-d627-4207-95f6-e0eed01b912e phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:37843397 uuid:7a1e6dff-8875-4f75-873a-5dcbadaf7c7e phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bd0bc6c6-d69b-4f19-a877-054b7c371546 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ea441692-5037-4e04-987f-8e6a5d788fd8 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:52302dbb-06b7-4d55-8ad9-7580589b7d53 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:03ff8804-156d-4978-b699-32cbb98fcada phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1d6416e7-81cd-48f6-8f08-4922ca89e579 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cf46b425-72b5-40d9-a3ed-cfb8495722f0 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:62bf75c4-9897-4702-a39b-ff65fa74af47 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:254f6bae-5e21-4ea9-8aa8-e816b435d6f5 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:326f298c-a15d-43ed-8db1-3f0c81ddaefa phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a867793d-689f-4f1a-99e1-91a3c6204857 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:386bd1f0-6c89-4ce5-ac07-c1484ff9874e phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a27303c4-e674-485c-9215-028464368962 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:babf7b1f-8450-489a-8b03-8aac49ea5e07 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bd307804-4ad6-4f3d-be18-933dd0aa8fc7 phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:dd0c58af-4c3f-4146-92e5-4516a8dbb7cd phenopacket.store:LMNA.PMID_37843397_TR28 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d33e58a4-ed70-4512-a8a6-a86c9d8b4ea4 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:15191b40-1652-4c7a-a006-3fb18703f7c5 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:34b077b1-f910-405c-80ab-10d1b58eaf5f phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ca73c3a5-c357-473e-8a86-beb769f90156 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8fd4ab28-c669-45a4-bed5-a0fd5581cd04 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:dc284cd0-cfcf-48ce-ab6c-cfe9802d981b phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:11e45627-d03d-4fb1-8d5b-5931566cce77 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5f90d7ea-9631-4934-9c89-94a107e1f468 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5479a3e8-c164-41b6-82de-5c8e0b8f09d1 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:23540deb-1375-49bc-b0d3-c45617cfd176 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:248e2ff0-ab88-49ad-99a7-d6433d75b086 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:15a2b711-b611-42cd-9507-312bce929b42 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:60b96d71-2b18-4db6-b6e3-e3189ca28868 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cd6868fb-309b-4d49-ba07-de89abdcc4eb phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a0de04f1-c842-4675-8b99-42181c55a93b phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:10580070 uuid:4c412fdf-6706-42a9-ba3b-214018d6f756 phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:8b88d163-1ddd-439e-852d-30c783c72d25 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:6516da76-1f75-49e2-a2fb-a96351bb7a5a phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:6b795721-e0f8-4079-a8c2-3ac4733798b9 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:fd2e44cd-cb30-4838-9803-ea4882bbb39e phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:6ba877a4-3cb8-491b-bef6-96a08120c517 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:fb9610b2-a5e6-4e57-abc4-9be33615cf85 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:95f23c55-a8c3-40b0-b02f-29eed4fe3177 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:93810c18-25f0-4e85-afdb-02abdd7b1c2c phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:6b196666-7408-479e-b409-8f408e38bb94 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11344241 uuid:0c7e49d0-8128-423d-afd3-4e3cb8f01bce phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11344241 uuid:f2388b01-fb82-4cfc-8cbc-8724e024b4cb phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11344241 uuid:54a1b7c4-5fa3-46ef-8a63-699ff7e6b885 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11344241 uuid:56dedf6a-cbd1-49d7-9d95-da2c951c30f3 phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11344241 uuid:3a81a112-2a9b-4a1c-b793-f74feb45c5b9 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:37843397 uuid:ef4355cd-835d-4776-a568-c3d5233cda7a phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4f2b9f36-3dbc-4784-85a0-0e0ba0ebc8de phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:76ad857b-0e58-4f0a-8863-53b3708c9c30 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:083e2333-ba83-4e60-86cd-df14b0b78e09 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fefdf10f-e46f-42c8-93f6-dd810963b632 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:50087287-425a-499e-a428-27730167b463 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:acf4da15-373d-4440-aad4-8f15b973ba16 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b237bc7c-286c-42d7-b375-69eec286b040 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6324a2b8-2571-4c19-b1aa-4c322dcd1650 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:91e3e125-5c4e-41c1-b8da-adb8c3d74aa5 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2a89ae31-8ff4-41f1-8fb7-2d960e8b79c4 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4f28b0a8-500d-46c8-9e0b-4206d6b2b0f1 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d64dd949-dba8-4d4c-bfd1-d2c257e3c11d phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:400e769f-6507-4203-b556-03e56331fa5c phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6c43abc7-1f6e-433a-a761-196ca1f097d5 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c26f74cd-ca98-4ee5-b6b8-f8a083da7fda phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:aa306efb-1fa2-4748-a562-16d486f4f8e8 phenopacket.store:LMNA.PMID_37843397_TR10 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3a6ef8fd-8f28-4a0a-834e-33d73ad27de2 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:18551513 uuid:9f2e4be1-348f-4aa8-9bcc-d7349188c83b phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7e87d23d-bdb8-4400-9ce2-22db50a22ac8 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:1e8bcd2c-ed19-4e28-851a-6632f29fe8d0 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:0838596c-d36a-447e-96fd-c5e658358ed4 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:0be5fec4-6cc9-4d11-8abe-b02032c93366 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:23c18766-5aaf-46d0-afd9-4d8cf0df1eab phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b61b486e-0cb4-46aa-882c-8fa0fa7b0203 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:6ad91b9c-6602-4489-ba00-73d3b4055344 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:34a828e9-5499-48c4-b78c-0c5b0b3ff2e7 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:5dd89ae7-9de7-486c-8f63-bc57e07acebc phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:655c824e-4ac1-42c6-abd3-ee36a1457fc6 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c5a6163b-5e41-4437-a776-9599a481daa9 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:cba07ab0-d669-42fc-b442-70d57ee58b9a phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:d6f00589-39df-4af6-b9c4-d448fcb4dee6 phenopacket.store:LMNA.PMID_18551513_14 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:f48d29c2-03ce-4863-82c0-19b55f5f1efa phenopacket.store:LMNA.PMID_18551513_14 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:fb01a58f-9347-4b06-9a4f-ca55124b815a phenopacket.store:LMNA.PMID_18551513_14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:691abbac-93aa-40e5-bb02-983815e6f8dd phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:37843397 uuid:754383bb-dd1c-4fba-8890-f05ad1a58047 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:37843397 uuid:f05e1bbc-030f-417a-96e7-3932b3652523 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:18ccce37-113f-4faf-9142-2ef792bd4679 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0da047c3-bfb1-43e0-900d-bf439f98665b phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b9014845-2ff2-4599-8ba3-fc1b5c77bf89 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:62a40157-993f-419a-b98b-c39da91ea975 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:eb5159dc-3e4b-4b90-9243-93d9d48b3e8a phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c8d03dda-45d7-4fc1-a457-d9ba63039f78 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2fb6cedc-ef9a-4aa5-a39b-0bff13504127 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:899b97e5-ac1c-496e-9b6f-20feab9b2de8 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:69060c27-6ef8-45bf-8722-c47933021b77 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bc93c58d-080d-459c-a573-c6b6df69a32f phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b2814876-8a1a-4fe5-b982-b4ceb12fcdac phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ea25dfd0-ad69-4f1e-9d6e-d6e0fe225e56 phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:03b0918d-e0d4-4f87-8289-92c49050fdf0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:f5b5fa45-b17e-4e93-ba22-c22f73601b97 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:247a7c82-8ab0-4d50-a13d-9025a1745242 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:f3c46540-8f95-4cea-b858-226043a7b893 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a35628d3-7b48-47a9-abc5-003ccc29f3e2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a40be6b9-35c8-4ecb-abda-89db86409385 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dff2a1c4-a91c-4e9d-87e0-93ed46e9190d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8817b734-586a-461d-9623-c670b1597cfc phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:efbf74a9-718a-4d6d-9613-96ead949dd92 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dc3945d3-8cad-43bf-aa98-9a05709fac70 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f792ec95-abbc-46ac-ba38-81411c1f9a2f phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0d2854c2-a00e-4b59-a3e1-5e6e198c1843 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f0f61d82-b730-4ce1-919d-3bccaaaa00f7 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:90708380-8a95-49c7-99da-26ffda27bb6a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:131ef3dd-6df5-4a59-8e23-83d0deab6450 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:37843397 uuid:479d56be-fbb5-41d6-93d0-c7788e267fbf phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:39af9aee-a4a3-4bb6-a2e9-3f44a9ebe4e2 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8e6ce777-59df-4524-99ec-ef3b442a4205 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a7d1cabf-34a6-46ff-a0e6-c5542f8c9a00 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e613e955-d73c-48f7-9128-80a17ce4fcd2 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0112b381-dbd5-4b3b-b697-908f6e4571c3 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3be4f2c4-3514-4aea-a0ef-64bcb3ca5c37 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a3188611-d30b-4ec3-9c89-adfaae3934bf phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:45e7f9d1-1296-4f73-ac99-17a26c53a31f phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6cd7dde8-8452-4e9d-8f6e-905b0dc6ff2f phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:deb66035-38d2-433b-b1fe-bb5afbeecd61 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0213ebbb-01ce-45c9-a890-6be72e09e932 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f20901ab-7ba9-427f-a007-2325ce0cc1c5 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:430f2595-0902-40b0-a02d-5423dcc60a2d phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:35125730-112e-4874-88e4-b01d94b2386f phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:21bb4c58-0eb6-4f94-8ba4-b78591fa8270 phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:734307a5-3c64-46ab-ae1a-34aa55b7b7dc phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:6677adf5-7a2d-4ba4-8a18-269dd142e31f phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:7d57cfa3-87b0-468b-aae9-07bcea7e6d20 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:4e827364-5532-47f8-b564-ed35ae998e62 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dcba4e6c-2b06-4293-90c9-29d1b65d2b8b phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2d751031-93ad-4b5b-b7b9-a9ba59696dbe phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0f8a2b32-75ff-4fa7-ad74-5e87768ec8e9 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2510bf59-8580-4d81-9dff-b3ea88a7e506 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0532c7a5-8c90-4370-afea-a1ea625c68f2 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1ad1daaa-2c7c-40ea-819c-a33b9bee45e4 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7b206caa-0907-44ae-953b-2f245a6d2878 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f65d40cd-9a3a-4e60-8032-99ce4da36fb0 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9f814b60-65fe-4052-877d-0eba5451ba19 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d5f83776-a1bb-48f9-a955-988c6bb18f01 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:984aae00-0501-4717-ab37-ee15bb2708e6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:3dcb9648-00c4-4220-b673-0c1e3743551c phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e0c345b5-a455-4271-9d06-7c99f93e5a18 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9d40106c-d2b9-41f1-9a8c-89120edf3e47 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:210b4667-43c2-49a0-853f-c065e6b337d3 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5a36c468-3430-45da-8c13-f9403cc579f0 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:8383a6c9-1d51-4055-b335-efd28ea4c7ee phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:3ab45add-6132-4016-a673-c12b3653a1de phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:321df449-9e64-4bfe-b550-9a8df1cdaa22 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:f7ac39a0-e42e-45c9-8554-3a73ac34c71d phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:0b168f58-e277-430f-854e-a007e86dd356 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2650a442-a696-49f3-a992-defc994f8842 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:64167246-5df9-45c5-8a2d-d08aebb928be phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d16507ff-d00d-438f-8961-3b41d5d411d9 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:24f6d98b-3a3e-440d-b76f-11e56017272c phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:13ad5d8d-684e-425d-8eb5-47b323f6ed89 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:292917c2-58b4-4aa8-85b3-18dcba3460ee phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4513a697-4d43-407b-b559-67acf1722bab phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9270f44b-327e-4003-a442-03171df56e32 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7b2f83aa-210f-4370-908e-69ef31cc125d phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7cb29915-ef83-4254-917c-a995e44c931a phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ab8bcb81-5ab0-4eb7-a2fe-76adf46fa240 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:475f38b0-c3d3-41f8-93a2-e556e147400a phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:10580070 uuid:8833cc66-9546-40ed-813d-3a954a759b81 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:38daafe6-2bdd-4a92-9367-3ac3d1a5e570 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:04ad6eba-1a13-4d72-abba-5e975f95f79e phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:794961b5-94ef-433e-9d0b-8925b14d88ea phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6c4e5aea-2a08-4005-a80a-f2679df5a455 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5556c3ca-e6d1-40b4-afbd-540c1bcb9781 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6127d140-0d9a-49af-b2b9-cb872a227600 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:74af381a-ace9-42a1-bcb7-f3116bf4d99d phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1a603d95-0daf-4ade-9a64-85a277d136f4 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:41d07013-d47b-47aa-86de-1e82270acb74 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:20571df0-a5ed-4e7f-a9a8-83ffbdeb4384 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6fe3a829-ce59-41cd-9073-442b3a0c0cef phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:86c5dbc1-d58c-4d11-b51d-d05066faa72c phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:cc19986d-6b0e-4b25-b8e9-9508720613a8 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f07519d8-886e-4788-904f-0733a1686bf5 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6945e17d-bad2-4bda-8754-c216654950a3 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:c030e279-e21a-44b8-9544-da32b0488f6d phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:5099da5c-1e8b-42c5-b417-20a9252f8a0b phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:10939567 uuid:fcfb67fb-89a4-46e6-b3d3-17a2f065bf6c phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e6a540b2-a9b6-4212-8169-78ca59dbb0f7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6ff136ac-6c80-428f-bae6-061ee6d918ab phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2f7c36cd-7731-41dc-a7b8-265e1f2fbdc4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0ff55f5b-70b9-4dc4-b3fe-331490f45515 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:19381d97-0cc0-4792-a304-1f7ac6cbecb8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a3ad9699-ad9b-47e3-a631-16e9f748f160 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b9dd38f3-3fd0-41b8-91c8-7bfcb0379dec phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:63cabe3a-c9e0-4619-ba79-7943d7dc4557 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ac816c2a-1b15-48be-a0c2-a400f7f0eed1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:781c82af-4cbe-4a27-8f8d-627c6d8c674b phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:83fde83d-d81f-4828-8509-e4a62ec39273 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2be80884-f063-4f3b-a872-76a2a1c8b951 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d43bbd09-e290-420c-922c-e8ae615b225b phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9a63d45a-513e-4783-8298-0d54b3e592fe phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7ce518a2-20e2-467b-b788-03ed864a52ec phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:811922e1-d720-43b8-be99-eafabe108a52 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:663eca77-ccc6-42a5-bf6d-e07bbd13ba3b phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9754a937-1ac5-4310-9a95-db035367548a phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cb22132a-a00d-4265-98d3-72352b2651e7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2cf33970-54d9-4c6b-ac0e-cb3881f8f695 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f8526a1a-23c5-4445-8793-58c698a24ebd phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5b2e12ac-0a75-485d-a2af-78c43afeed18 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2b76a06d-e33a-4041-b64e-2d144fcaa36a phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:da4fee22-1196-4ce4-aeac-97285e2442ec phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c2923c8e-0438-478b-9c7a-22654f210eb2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:da789db9-9aa1-4a39-a714-f4d2c61ec635 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8cf99990-25de-4210-81bb-183b872b8563 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:31d4baa6-9451-483c-91d0-a0675c159d4c phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3597da74-5f9c-49f6-a325-393407c4977d phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fb9c3027-c059-4f7c-aba9-ca5164598274 phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bbd9ad42-9a24-4177-bbe0-0b1af914919d phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10939567 uuid:8554dfc4-1c3f-420f-92c1-4b780ae8f49f phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:f1d23f39-807b-4a9f-bfa9-c88ca60611b2 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:18551513 uuid:630ae643-478e-4a9f-a1be-0fed98b2e3ae phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:8c0fde84-5ab1-4ae6-81ac-739219194f8a phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:82a7f6e7-5383-4ef4-ae88-f7e709f7a9bd phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:51925316-9fcb-4b60-bbc2-81e062f7155b phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:5e771033-412b-41ca-b738-11f24de4f85f phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7feea5ec-1883-4291-acc8-b9e5b5d1b6ef phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:204fa15d-a0d1-40d0-86c6-b1ba46338050 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:fe5cd244-d79c-4ea4-9167-c5eff55d0c84 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:a67d39fb-5072-44de-891e-ea9c717ff25a phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:663d46b1-dcda-4cfa-85e7-0b92e0bb87f9 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:6dfb1ab7-76d2-471e-80e9-7de2e23b3182 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:eb734f84-6421-4087-8720-d8a6dee4d24e phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:9ce8b0ad-16de-4d3a-b3bc-c381906a21ca phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:a984ad0d-38e6-4e36-8644-caf6cfbd0b8a phenopacket.store:LMNA.PMID_18551513_7 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:2498274b-15ed-488d-81c8-02eaf00f0b79 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:7982f968-7423-4a88-8568-763058f1b5f1 phenopacket.store:LMNA.PMID_18551513_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:40b02f9b-537d-4072-917c-b0db18602f82 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:37843397 uuid:e7453dfb-c39c-4478-b3da-f2aeca45caed phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:37843397 uuid:33f9daec-fdfa-402a-8804-e53933663f8b phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:20da40fd-5d9b-4242-a287-066eb9e94877 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dc6b357d-1a20-42f2-886f-c1d697072995 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a2157669-2f5c-4df2-ad80-f7d811570840 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a44c6056-e225-4426-a240-ed2126518419 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8f8729a5-2ae8-4ba0-b5be-fd20bedc63c2 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:edad4b0a-b8f9-4973-98ce-ea4b71660113 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:524fcebb-c329-4cfd-b891-b0d379ff0fc3 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d224f226-53cd-482e-993a-f08752280150 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7776d26a-0837-40ad-ae9a-1392cdc8ec98 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:24799705-071a-43d6-b370-f57ee041fbc5 phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d9e9fd07-322f-4bb6-b83f-01ba73785657 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a207781f-5c47-48d6-8f0a-5d0da915e967 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:056c1dec-8d7d-4e39-849e-1afa6d789c55 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9ccfce09-e8f7-4825-923f-cf21f74a1b9b phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9ba4c5fc-257d-4762-a333-398bc831141e phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9cda9b6d-5916-4b37-831d-88e985ced335 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c4415bf5-a2d0-4d30-8920-7944c51dcca9 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:654c3509-d7f9-4ad5-8a91-43bb8d049e76 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:cd27dfd9-c9ae-4b01-8dd7-9a7fdbf61efd phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6dda5732-a011-45c9-81a0-1be337c81a0d phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a3d234c2-988b-4f68-8a5f-a29fa4578c1c phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ddd5a5d6-54d2-4f4a-a012-d0c635ffef33 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a003d948-d8d1-4428-92cd-0c51154d06d0 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:1bb272c8-b132-41bf-b1b6-3374e244a831 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:b8bcd0a9-2ff4-41eb-b595-024293418e85 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:5cf96fe5-7755-420b-a471-3482e0d83927 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:93c8400e-e55f-434f-9a90-38c8c825a57e phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a237ef62-2f4d-4dc1-9284-af73a27003b3 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:2037e997-cbae-42ea-9cf0-f54a99c8bd65 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:06b53016-c989-4b51-ab05-5a19409f4082 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:38601351-d4e6-459c-8d59-1976916c7805 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:f3a91a1d-cd25-45a7-8854-2cec210f38e6 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:31887ac7-004b-4083-b6aa-ad9509d3e0e9 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:267a43a7-c632-42ff-9b14-11a69a478902 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0dff258d-5165-422e-809a-4a78ff86740d phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e46924c6-6c6b-45ab-8157-f1ccdcb8e87c phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ec23e94a-fa9b-4e53-aa98-824ce1a34951 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:28026e5b-feb0-4975-9c33-c234919c2ab2 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e3dd77c0-3a95-4c7e-8660-b71f216f2dc8 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:80f6a9ac-0715-473e-b27a-b2cc0000fbc1 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1ae7396c-9035-4688-b39f-a7c90652e51c phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:0f070bc8-7514-49ef-8ff3-f4480b9ab931 phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:1c74fb3d-1b86-4cc4-bdaf-cb7b779e5214 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:83aba58c-103c-4192-ac94-b0cf02cf2a38 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:08f31cab-05cd-41b1-aaeb-884e8486f2da phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:71579f91-0ce2-4e8e-9d92-e2ce724c465f phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f77483c3-a097-43b0-bed7-6f80dee2d654 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:866c45bd-bb13-4442-9250-b4c235adae25 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a999ce95-051d-498e-a106-8b7a80e1e2ca phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b5abac69-7aa1-4ff6-a4b2-5a0e58754702 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a6da1007-71f6-4311-9934-9708dc6270af phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:99c98a8d-21fc-4e7e-ba0d-83de4b4cddc9 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cb1dac04-3334-4090-a340-500034e1e1bb phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8f14fbc5-9734-49ea-97ba-8ae49c4be311 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ec76096a-f212-4987-8ac2-0bd5701e5a63 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:fc22a6ed-8360-4366-b070-32ae7f0dd1bc phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:378d17f6-05cc-4a6c-b95b-5413f62c501e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:10580070 uuid:3547f827-12bd-4006-bfd9-ebad21b47c3c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:6bda1f21-65e5-46ad-8450-67f092616b9c phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:37843397 uuid:6451ee5c-0e7a-4fb1-a56f-0ea3d8721478 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b60672ad-0a8e-481c-b01b-177ff41811ba phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:985a2dea-f759-4935-badd-38651e32e2ec phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2cff5d63-25ed-4f90-b8ee-a3c838352adb phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a252b2c4-37b5-4333-b147-acf2880a7965 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:943d1810-4698-494c-9a67-7e383d391e11 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9797accf-ff3c-4b86-a218-44decc8dc88f phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7ce5bae3-19c0-47e3-8f5a-895b95f62b05 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8854075f-31c5-4f98-9492-9f5c3a724cc0 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:867d09da-b621-431d-b624-96a5ab872f22 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d29aaf06-8f21-48da-83dc-fcafc1effee5 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2a999ca9-56ba-4fca-b66a-08a6d7716344 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1f785b2e-49fb-43b4-8d8e-58cfb5ced766 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:446e1d74-f2e0-45de-bebb-2e17abe71f5a phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a78d3139-316d-4a6d-91ba-41083c3a9b6e phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2532389f-23b1-44f9-985b-93838ce4ca70 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ab43ec57-6775-4209-8e5f-9ee346ea5f31 phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:6bed173e-3a28-44aa-8356-af875f6cb1ca phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9cd12993-0b07-4f2a-abe6-e1f594e9de43 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:db36964e-3cf6-4044-a280-0a940e008a8d phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d3b1d58a-702d-4284-8e7a-b5da6a9a3cec phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ecd7f091-53a4-40d6-87b7-77e2f6800ad3 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9029c6dd-c4b2-4e90-9229-6a5cec13a1e6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5bb978ed-5066-4b98-8bb5-dbe8614ade86 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:399c427d-bdf7-435f-ad7b-76cc179a9561 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e4555fd3-f52a-4673-b650-90833b4403a7 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d3b550a3-8826-4e6b-9e75-c2666c165b50 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4195d68f-be0b-47d3-b418-95db140d3e56 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f7cb6ee0-15a8-4acd-921e-635a45fddfdc phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:abf048f3-8228-43ed-b7cb-f98150179ea3 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:597677d6-a089-4e91-9dca-1f0b99af8f59 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:23aabdce-1743-40b4-b8ad-531b1f6a6ea8 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5474e6e5-2647-4ac9-9dd2-0dc747987a2b phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e999058c-100a-4bd2-b3cb-21e479657fba phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d0e6a2d0-d531-41ef-9067-5f8cf7b74ae9 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:14c14f95-1737-4253-8aad-c147783f20bd phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c938ae9e-a7aa-4389-b1ae-9a1a77d15a69 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:0e11db6f-b19b-4e7c-ae89-c77337594076 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:fc1e6b12-0d68-4ad7-a21a-6cc8e340353f phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e11c300e-75fd-4c6c-8a93-e1a4b0d7e4da phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7fc96818-207c-4516-a34e-99ca56760e05 phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1abcfe18-6282-46c0-ae43-3102203d9ba7 phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b3d74427-9450-4046-8310-965553b7b7ce phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2a10bfeb-b2a5-47d0-b7a2-8e49cc90e22f phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c4ea395d-cb86-440e-b17b-6611a1e8dece phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cc180f38-6d9d-41c6-8ecd-b3ae0333af06 phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4fb73235-bf30-4e11-b3d7-e00f4345ac5d phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7ecbfaef-00ab-4807-8b14-acdd127d686b phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:98811bb6-5fed-451f-bc61-22af759ca50b phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:225f034e-00ae-4d0c-abe8-be8a2f8a76a2 phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b3810d1e-a70d-4e8f-97d8-4eefb75e1953 phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:77538521-47cc-4a8b-a2bb-7df04cc6ac15 phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f2b1bb50-0e6c-412b-8ade-016bcb65f2a1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f99732d7-788b-42a7-9438-7ed7f47a5233 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:647d53e7-a3fa-4287-9587-db1962f87fe2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:53b1d3ec-fe1c-4957-9dbe-96fed366d90a phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:eda8bd31-412e-41b8-af31-2d1108f48610 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7da9def0-9411-4fcd-8948-dda7b6d60575 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:63be3a6d-d1d6-4b88-b504-7c8dc28a92f0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:630285dc-f284-4d1c-a6d6-1de1c5522644 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:55fddbf3-e931-4031-b54c-42cd3bc81518 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:52f411c2-6c0b-47df-a627-2335723d2945 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:62196326-68c4-4808-8050-22e07d7bd715 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c27587b8-0213-4a39-9344-443928f153f8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aa638dea-0255-4ad7-b6ec-26268c872899 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4b5aa20d-2a6e-479a-ae58-3a8eea05647a phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:703abbf8-b453-4d83-8ed5-d04e14d5e02f phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0bb6e696-115e-4270-9707-ebf84d9209ea phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3e04c30c-dd98-4566-9f3c-8c9a8cd2e573 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5e82628d-1a6e-4518-ae3d-751e7ed35500 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:73800fed-4312-4290-9722-cd32f4c90d6a phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:de23f3f8-6208-49e1-9a4d-b4e48f0b983f phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0db51ce5-13ce-4b21-9818-6e2b862d09cf phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5a797254-821c-479d-8363-36e00623711d phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c2ca5ca8-bb66-463d-a7e3-16f051a3cc37 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:518b5026-cb87-44ce-bfe5-401192196b07 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e6d80866-f61b-4153-ba62-f45b8ef398a8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f85c19ed-1154-4402-962a-13aa7b0403f8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d65688ea-1ace-439d-997a-1d8b612a90b3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3539419a-daae-41e1-a77e-7fba1d964b57 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0849837e-1d66-491b-add0-e38391b53567 phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:081c8a03-d5aa-45fb-8344-349687b898ff phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:3f539925-0018-4cc4-8060-65eea6fb810f phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:a46b6944-b3c0-4426-b316-ac621559402d phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:db30ba9c-64c0-4f4b-85f8-3c78bcf84afb phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c13a21aa-738c-4286-8293-a63a06e7a166 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c2a22ad7-1086-45a7-aa58-9dbb03ff17c7 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:57851c04-e488-4f76-b589-1737f53aa9e8 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:26836166-6257-4050-84f4-d69207e11f60 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:016a09b7-94a9-46d0-b2c5-07fb87942290 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6897874b-cf34-4cb6-a282-48938a06c4f5 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:be98ac42-ab23-4344-999d-c744764621d4 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:bd43dae2-296e-4f90-ade9-e7076bbb1a42 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:00ac7c53-6011-4ab7-bb56-75e1c5c602be phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:c7fa2cbf-8922-4515-8408-27da0cca295e phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e747ecb5-ba25-4a64-9fd9-5ab7e6096760 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4925dc67-07d1-4ee1-8a26-3413c0a7f51b phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6e04fec2-32c9-45f6-a282-4e39fcae63b5 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:848b55fc-82a2-4d8b-aafd-680394815bff phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ee435f51-8e68-46ef-96d8-4a5dd33b53ac phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:3ece7645-e23e-485b-b037-6b1b3fc52f39 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0e46c69a-4089-44be-b742-8c3678a73ea6 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:8edda4b4-4561-4345-8d57-d89ab21b0894 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:5bc1528c-708c-41ad-aace-844ea2848817 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:db3cfe49-c748-45db-a86d-4a9daaf11c3e phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:99ff32fa-72bb-4b33-af41-0d28bfae4232 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a9bf2efc-ac16-4465-88e9-8c30e1fc01cf phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c604e9d2-c4e5-407e-8cfc-52446eb075a1 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:45585eed-d1da-4c53-bd74-25484fe35dcc phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:21726b13-9a04-44dd-88ad-39d06b6aa83d phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:8556ddec-e239-42d5-bdc7-31e6a24168d5 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0e5b0af1-e450-4bbe-9a32-817b669eec43 phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:c6c8fb39-109a-43ca-9780-997e7abb935c phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:10322250-2ca7-4056-b8a2-cedb0c5ae907 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:12920062 uuid:881d4cee-9aa9-47f7-af72-929519acb412 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:e579eab7-bc87-4ba9-b28b-65ede90786a6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:99a8d6c9-cdb7-4229-98c0-f44d365deb91 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:98a4128e-cbbc-481e-b4f1-ed44032bac75 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4e928613-281c-40c7-b71e-714f13afcec2 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dc1239ff-1c77-4375-947e-5dc5f5b233af phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7ea03d6b-88b2-439c-9eae-865398748dde phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8975f4c9-b40c-47da-8c0a-d5a8bb2dd1b1 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fe59efb4-c332-4480-8184-7d454927eaf7 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4ca0d2f1-f628-484d-a3bb-d58260afac4a phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:57185897-aa07-4238-8769-e935b51c27e0 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6a89296e-c18f-4c1f-89b2-ad4bb768b044 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:790d7a4b-4159-4387-8709-53091b4a18fb phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:1920d0ec-1af7-4a05-89fc-dc2a5a353213 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:0b670748-70c0-43a4-92c1-b6c5be26da06 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f47e889d-07b9-4d3e-a2d6-72d008fbbb14 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9d72155d-bc7c-4050-9eb1-6d97f21390f6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:49ebd3d2-6e42-4683-b5a2-1d469c40a0e4 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:8b1d0bdf-d2e5-4bbe-a9d7-69c29f942c8c phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:c905cb12-fdeb-4bc3-9011-d94e97be2784 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:15abe64f-8fd3-413d-b25f-3a47092a5809 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9b7bd129-260e-4932-a48c-e0a2fb0af24a phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6af99ea6-f7a3-4f6c-9576-680b7c25a14d phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:266a76d8-ffeb-47e4-a8fd-5c6c08a5275f phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d69bef24-113f-4935-a502-3fe72bbef78e phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d738311e-4c8c-44a6-a391-f007062233df phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:2f4b96a7-ea1c-4f08-b1ae-bdcf716c54b0 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:fc4200ef-3318-4784-a499-40cd6879671f phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:de8c4de4-2430-4811-8ec4-308c3c1a6063 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:71fa98cf-592c-4185-a2f1-8fce1a5fbb70 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:83a07bbd-89d4-470f-9427-8c43381e8c0b phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4ea90354-7440-40fb-9619-8cf75927a7ff phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e5cc2891-6ea6-475d-8186-4d566c003748 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7a5525b8-6347-4fef-8ce8-f59985a0bea5 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a8431b6a-632d-4b33-b9ae-27feb4b33121 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b1f7c1f3-e31e-404e-b085-69c5535e6092 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:fa5e185c-777e-4339-8508-bdeb10072cfb phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:bc6a8436-4086-471f-bda7-8525ca251c6f phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c75c4763-3c61-4031-857f-c6faec3401a2 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:009e689b-4ac7-4aa7-ae51-4adddefcbabf phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9f99a90b-58f4-48d6-9ddb-f38c7286008c phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:727ee6cb-a055-48fe-8000-a9d4c96914ee phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:70ace11b-22a5-4eb0-ba46-3e2956bf8844 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:05eaaebd-7b72-4691-9919-12221fa3bd46 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:5b5f2186-7bd0-45d5-9510-b0e99bb53024 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:5960e636-5a68-4d09-a9a3-694532d1380d phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:98d5be12-60cf-497a-acba-77b3908a8922 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:7e889e60-ed2d-4945-bf3b-03e8c912e417 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d3f03ec7-3952-475b-8557-b915cb9a2ab9 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:215f0878-6e88-47d0-bae2-9da3affd15b5 phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:0eae94ea-681f-416d-a389-d84dfa8ddd20 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:12920062 uuid:d77a6031-5630-4c49-b2ea-0a5c3938e60d phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:5324b378-fca7-44db-940e-b259f5bc6420 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:13b1b788-1a0a-48eb-94a1-d895ee96b4af phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:949c8495-19fe-4df8-a8f7-64d36e07169b phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:0782d167-efcb-4798-9ed0-865117321b46 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:8aed2c9e-e2da-41b5-a2ed-84aaceac691f phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:29f1bd8a-6760-40a5-a4cb-48e6e00d63cd phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:80465fbe-7c96-4b93-ae1b-31a77b819b29 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5c691861-2d61-479c-a4c2-e9fa2fb9b311 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:51404f16-3b8b-4903-bc8b-d521ab311c08 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:e9c92559-442a-4c66-b8ef-8dc5aa780c58 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4fb13088-7607-4e12-827c-744ec69ff038 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:512794c8-3641-485d-ad28-de9b9ca2f6a8 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5f040f61-1f68-4068-bdd2-0d51dc41cf80 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ff0d2acf-7e0c-4ccf-9c87-2b5dfd1acef6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:c30be8d2-67ab-4553-9fb3-8e2b15fd1654 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dd648dcc-d243-4a8a-9bfc-80c69ece8f09 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5b39afbe-1acc-40de-b6e6-dd384a3fb2e4 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:209c8501-159d-4f7c-ac19-6e8d018734cb phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:9cc9ca57-4fd9-4c4e-ae1e-b1509fe76967 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:c998094b-0244-4864-bbfc-9352ca4bc860 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:37843397 uuid:6195bfbc-b5d8-4298-9f0c-780c035358b5 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:6d4a1222-1929-4d39-8b2e-b6e976cf965c phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e1bbe416-5f50-4ea5-9b41-7cec99bb4bb2 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b207be2d-df3f-4e63-9d74-af361eeb3076 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:92a87220-f900-4711-bf3f-816ad1d72315 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:db17552b-73bd-4ce4-af5a-c039251bf224 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:283c0f04-53b7-41f5-be55-2a246f3cecfe phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:932ecb82-b228-478f-8133-708125307a6d phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a93b7757-07e8-42ef-bc8d-a34e01210ddb phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e77788a6-f01a-42ed-8da4-34db796cdbc0 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7cf41026-d47d-43d7-be59-cd75b62b7014 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e1adaafc-85d6-45ad-8e5f-89e978f9ff0f phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1d2f04c3-0f2c-4a94-8c6a-4bbbfc1cbd41 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e41351e1-d0e0-4024-b0ca-bcafa7bd3535 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eada705a-c93e-4654-9cdd-854f6f254108 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cc4b1615-f464-46f6-8f99-99925c4d7433 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:dbadbb6f-31ba-4325-9e13-064556137ff2 phenopacket.store:LMNA.PMID_37843397_TR13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:aa08d26e-ee4e-4faf-a36a-606973b59f34 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:cd456b9e-7df3-4027-ad1c-6c3d8f617280 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:418ef7ab-a971-45e2-b2e9-217411b34e5d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:2436714b-6444-4d36-ab23-36d3ba599363 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b9008830-22ff-4962-a7f1-aeda2f76a81e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ce3445c7-2f93-4d74-bc5a-eadc49471b80 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7ef3df80-4a04-44df-98a2-2034017a2174 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d5b0904e-64b6-42b0-bee5-117d91d8dbbd phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:60c49625-95e7-49fe-aed0-23b95f7cfb05 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:35a69c42-03af-4833-95ac-798141b51550 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:73602606-1a93-432c-ba2a-8cb5fb0c72b5 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:f7347971-9a89-41b2-88e5-a50adec9d18b phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4175740d-bc3e-47ec-9f02-abf5b34976c0 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:463f56d8-9cbe-4978-a20c-ac8dd4a8d863 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:191589f1-2267-4dd1-a440-66ab856d50ec phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a1f067e8-5c93-4468-891d-5d2bde27a89c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P43Y infores:phenopacket-store PMID:10580070 uuid:9743dd4c-565c-4424-9a31-f184fa183021 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:5a75ce9c-9e0e-4c06-94bb-59cffdb3dadc phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:44c188b0-cdc9-409c-ac02-7ce6017fd73a phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f313f9fb-fcc7-4f5b-b716-539ed5a97ffe phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:2a6654d9-c225-4931-afc2-1d104d0c9b73 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:8d3c0e16-a138-47b8-ade8-873b69189ff3 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:01d52902-0e45-40a6-87c3-083db017258c phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:da788db3-f9a4-4464-a9e0-07f41e3f00a2 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ca1410c0-ce03-48b0-993c-54ab8c7866e3 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4417200d-2d14-48bb-8ddc-22e464910b46 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6b06b038-6962-4d9f-993d-5f95f1b50427 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d1a1b620-03b2-4be6-b496-2a3ca0ba7cb6 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:834c9197-a729-400c-a00c-ad935b5cd7f3 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6e6b52e5-953b-4523-8527-2949d0a428b4 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:05a7d527-a1b9-4a71-863b-86c1a1efe7d7 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:7186d3e3-c588-4e31-ae9d-39633d89a3d4 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:9a929dfe-e278-4fca-9315-15abf46e6083 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:f6d467d0-b9e4-4e04-a582-574d74d9328c phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1cadfbc9-9f7b-430a-8783-05f8727cd50b phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:afd4012c-8413-4e9f-adfd-23ed7ac5722c phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d6277f5a-ac53-4899-aa5c-a47670f2d1c6 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:0142e5e6-1018-4165-96a4-d24b8e99e4ee phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:a41c7ea6-a544-4b50-a1f3-dcb07c89d85b phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:514d3f62-6284-4981-ad87-43008026880e phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:db011d9b-76d3-4444-a56f-6431264f252f phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:da51e0c0-2c72-4192-823c-1e93f460dd77 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b001b894-20a1-4e01-8af3-c4cec2e9cb73 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:850b64cf-2f6a-4b20-8b79-fe6ea5b5b373 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:d491ad21-6aa8-4e3f-829f-09faaf125e6f phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:87dc9ab8-d21b-431f-9e04-eb19da8b0e36 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:c2408c58-90e9-4408-a081-e8497c624c27 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:99dbf931-80a3-4eff-8c37-998589621320 phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:cfe97c37-5a23-4d96-8599-6c650e12b0b8 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:18551513 uuid:a4e1ab94-3079-41ea-b879-4936966c9f93 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:18551513 uuid:75e32430-0dc4-4f24-abb0-6d71e19cae1c phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:18551513 uuid:1da60327-9327-4107-9eff-f8f834c60eeb phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f6db99cb-5489-4381-b9df-d0dda6611536 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:56d821ac-536e-42dc-8772-cf176d0f6fa2 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:c69f7b09-d201-42b8-9d28-a1f9bed712ff phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7a8c45d7-4401-4b39-ac1e-fdecad1624a8 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7dbd7510-add6-444d-ab44-ca84530c4e03 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:5e9beeca-679c-47cb-8137-9957d24f6c84 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b43960ce-752c-46ae-82a8-0c6691d8d16c phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f7433bb1-0a8d-40b1-860a-41a93d3fe464 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f5745692-87b7-47b7-9969-636c9503b03b phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:2c86e464-0ab1-4296-b77b-e34fbca185f9 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:1820c04c-361d-4c32-814d-3bbd30a0fce3 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:db1ff6e5-3973-4bac-bbcb-e718ce5b1c46 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:236e976b-75d9-4489-a390-ed98a1184407 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:daf0bd8e-14ab-4d69-a02c-2d0dc7e102c2 phenopacket.store:LMNA.PMID_18551513_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:d0f24ca9-fd7a-4ef8-8848-10433515a3fc phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:37843397 uuid:fe89e7fe-7002-4ec8-b116-0d8b42c74553 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:093d8c4f-983c-47b8-b34c-ce5433377731 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:80adfb62-0998-46ed-94fb-1bb0a8bfc7ca phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2b19bc89-674f-4127-b88e-c9a8a9d79019 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b59db9c7-c61d-4b5a-9c01-cc93af94ab6a phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:139d797d-9ade-492d-852d-db0f01695154 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fd65d951-da52-4448-bf4d-610f44a4fca7 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b73a44b6-c266-4946-86ce-97243e06b7b4 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:87e8c4b0-0361-4d0e-9ef3-e93246c84c57 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1f8858b7-462d-4466-8b85-c3a82180516d phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:545e6e69-8680-422b-9571-6bfb71a639ac phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6ffc81fe-e43b-4d1f-8748-5198e7e701e1 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:52d1be2d-716b-4de2-8d60-1b667fe6ace7 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9ab619ae-6ca8-4310-9bda-7865b16ad5c3 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a24bc749-cb5c-426f-a582-de5bd020aa4c phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6bf369e8-639f-446a-b26e-3038f9bb0394 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:69a48334-8267-47bf-b4f0-c668313554e3 phenopacket.store:LMNA.PMID_37843397_TR18 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:3e35f63e-de93-48e4-947b-f07bb45f23ce phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:aeedef93-87f9-4158-b03a-be90d6f7c713 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6b971e6d-a7e2-44cc-b739-a8e93a6715eb phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:60147f0f-f7df-4d5b-9993-5e3d35874530 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0d3d9c3c-d8ff-4cd7-89c6-4a8e354acee7 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6298bc39-d628-451f-b416-efb33b95216c phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7f33c57c-15f0-4c56-9cf0-d85f684b0ebc phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c14a14f9-c4e8-4cf4-8b34-704f34038fcd phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0b7f8c34-cc98-4fae-aa2b-7241fc3f53e8 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:32e47859-6626-48ad-ae85-466e59b6f86b phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7f7ab46c-f43b-4a16-9bd0-9efdff47af2f phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4089adf0-0f5b-4eee-8770-40f15db2bd33 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5b1a9015-1f83-42c9-9571-19dd72ad66f9 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:aa237870-c844-47f5-b1c0-3d99d966b3c3 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:37da3ef8-a569-4ae7-bdb3-8c36b91fb832 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P52Y infores:phenopacket-store PMID:10580070 uuid:e0d76a11-d662-4798-acaa-f84474eacbb4 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:8d573d29-113f-497e-b049-331986b98390 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:054ed72b-16f2-4339-9598-29a7f68c1a0b phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:84786ee5-6f40-4618-a483-e7ab376a7db8 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:705dc63f-e4c8-488c-bb79-645312c877f8 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:161b13ca-c094-4949-88ed-59297ee368b8 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9d8e676c-a108-44ec-b1ff-b0f0bb6cbdb5 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:4d8dcead-2acc-4340-80d3-2a34ea8d5b70 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:281ecc49-b06e-4dac-9cc6-03bdbab612c1 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ee1d6cdd-2df8-4697-9e30-0e71e0a7048b phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9ed5d099-c081-4832-88a9-11f17eeb37c7 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:70941c84-033e-4013-99c0-a54e8d2d88f4 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:781bf002-ceb3-48ff-a64c-037875706e0e phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:71ca6c2b-03ec-4199-913f-5147d33234fe phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:af92e2ac-dce4-4d01-a75c-732da858e2d7 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ce364fcb-5a93-4db9-9b0d-5908ffb81ce4 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:65a21a63-b85d-4bbc-9cae-22ae66b5382e phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1b549652-67e6-4b3a-9eef-1fdb269f1f4f phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:cfb954e7-9cfa-42e1-84b7-76e0659406c9 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:4e27970c-5c1d-43ac-bd2e-e8f7036a6bbf phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:8073ccef-efbf-4f38-a68f-bf1b4960a4ef phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:869f1252-e87d-488e-9f9e-94243088d4f2 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ba3183b0-5235-4314-aa6a-2f5f0bc8323f phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b901fd5b-9878-4af1-9a1d-60ebd9cc8c4e phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:07dc4b58-9c83-4424-b2ec-9cdcb1344e5c phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:56633718-5eba-4278-8012-720ee4916981 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:72dd9a2c-7ada-4c4a-b147-5483859a9959 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1db527b6-22db-4adb-920b-fe9a9b1df0f5 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:95931301-188d-4535-a6d7-464544ae67aa phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:010f8b76-a57c-4c14-81dd-0e0bcf5f503d phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:5a75abfc-01dd-4cd7-bf4b-a30c216d3ec3 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:cf7e65c8-ce7c-4d27-8edc-22de38058966 phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:36fa3a89-61e9-45f9-9251-dd241477863a phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:37843397 uuid:c1e49c44-5715-40e0-a558-d5407a5682d1 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:42d8ae30-5053-4734-9368-aab95ebd3855 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:67ccc99c-332d-4634-b4f8-6d8f251de957 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f9dbe992-87e9-4260-83a0-32ca61332698 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d1b94f7c-674f-4c57-8b17-78b078ee6f4c phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:af77918a-387e-4ee5-8187-53948eac715a phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:98073461-4f23-4072-8a23-1e4f02cca1b1 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:679326be-6d18-4f7f-a329-cc2adcb6b540 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9a2798bb-c786-4ea7-bfd6-602e54aecb52 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cccb5d8d-5bf7-4c03-b03b-5744c54d2f03 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:27e87ba7-59d5-4602-8ce3-1441f7fcddd1 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:45f97664-7677-4930-ab4c-a32cd98f03f3 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c7f94fe7-65d9-4cdd-95ef-70a170ab6c90 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:2c3c151a-b4a1-4273-9f1a-63b389c99ef5 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:517c2213-c5ab-4d84-8374-0890df01ee18 phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:190fe6f7-aaaf-48dd-8c9f-77acdbde196f phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:602f5661-c531-40d6-b928-77740348477b phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d5ea1369-44cf-4358-9051-7624518f3faa phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:13000b13-9ff6-4ecf-b368-a71f53c3f64d phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3625bb45-578a-4af9-9e56-d051fe5f4434 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c3134657-2ffe-4025-bbd0-acd7a6ab95e7 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:25f1a873-dd9c-4f93-9e82-30396fdd8595 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c96a1628-0002-4300-a6ad-4c06507617ed phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b344b4db-2fa1-4eb7-a860-c9530f2d3693 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1cb23aa0-a59e-4cff-afb6-42bd049b4a5c phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:15148287-2a59-4a75-b8d9-f13c8016f581 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:89d8f76f-2250-41ac-a56d-00fb50fab30a phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:561d3764-d49f-4a75-b7cc-3331ad74a28e phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e5a29090-5da9-47ad-8244-076dd8974995 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:80edd1cc-aabc-4c9e-8e03-35bdd3941c71 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:102d6726-18f8-4579-a89d-bdb2051a7d87 phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:01344030-d813-488c-98fa-d5935c4a6f79 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18551513 uuid:3c7ad71a-d42a-47ba-b933-452c142823d3 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:18551513 uuid:71aa4c1f-bc53-4849-acf7-efc33e7c9642 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b25c4002-225b-4602-b0d0-50873e182a8e phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:68e9ee6d-02eb-406c-9f48-d6206b1f9e7d phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:5976d2c7-7d5b-460a-963f-a88d7ae40908 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:548fa3da-bfce-4776-8203-9aa45fdc1b35 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:a4f45e87-16bc-4fa8-b304-afcbc14ebe0a phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:f87db73c-fd62-4fd8-8e88-824089e888ff phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:2e79c436-2859-4be7-8863-19dd6eb42b26 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:6bdf6916-08ec-4e2a-acec-32c11e3939d2 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:c3fe5e41-d7fb-4afe-96a4-0a00e298ef49 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:d12a07f2-d25a-479b-b40a-21bac5a33ef8 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:eb772747-3709-4c0b-b274-a22dc8fd18e5 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:b8cfc576-873d-499a-b99b-a8ce980933e1 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:f596d1b1-fb1d-4416-a811-f7658b0b0af6 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:b39aa3a2-1ef7-49cf-bf91-2e58d680e933 phenopacket.store:LMNA.PMID_18551513_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:279644ec-7143-48cf-9408-45fcf773da3e phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4d802a34-0156-4021-9518-2335bdba0a4a phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fbb7f73e-709c-4232-9702-4b8ccceafb20 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a88a01b4-6ffb-4a75-a80d-73aed184e324 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:2d012c58-7b36-4a98-b8b3-67703ddfa2c8 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ba311ad8-89c9-4c80-9116-a3b82f0c12f6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:758d429c-ddc9-4279-954d-ba1439aa3fe5 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:beffab42-2672-454c-847b-035b3785488c phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a9527fdb-74c0-45a9-9c38-aa281160baaa phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:d22343c7-6669-43f2-a68e-5cc417cec8ea phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:58e0ac47-523c-4b33-bc7a-a4c3d4318a05 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5ee5a230-8b48-40d0-b4da-c16067508bf5 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:5fe6b516-35b4-4265-8f9c-3aa635fc615a phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f82a140a-1a51-48c3-9683-9937794d2140 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:879c1811-19b7-4dee-b037-4ab7f5046d5b phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fb0b39cc-703c-4846-887c-18efcdefda91 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:ff89f39f-39ff-4dd7-8bc4-45bda12e94f2 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:9f366bc0-b28a-4d11-97e4-c5842ba21446 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:dd3523cd-6539-4861-8a15-f9c686f54613 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:a9dcdad8-fc3e-4ea4-a426-923a6cfa725b phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:cdeaf8fa-ec2d-4b0b-a202-29fdac75ced6 phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:724f8d2b-14c4-476b-aaf7-58f89bc5b458 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:dffa893b-6a6a-4fac-8d08-ea86022841e2 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:954a914a-8ca9-46ec-8aad-dd3f0a9b6f63 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:6384a566-710e-4a82-a08a-59b33f3e5a5d phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:8a3d0e86-db84-4d4b-8e3e-48c1bf58b6e2 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:ca64be6d-1797-4f16-b70d-214e932400c1 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:ecf7023e-39c8-4c33-9496-c9f7b00a5aac phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:12eda7d5-dcaf-4bba-b29f-7893b1bf301c phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:9ba55e39-3ca1-4f78-8c0d-5930ec9532b4 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:976c32a3-7b2b-44f0-8019-5da35c218b5d phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10662742 uuid:d56fc9fb-595a-4f17-8793-f1a157485470 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0011711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:72e367dc-c0c9-490a-ba15-5eaea4fa705f phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:16154d6b-3586-4e2a-b8c8-4c8213cffe73 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:71e3d5b2-3f7b-4fbe-b853-e841d788a794 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:dd4588a2-6e6e-4230-9206-f635665dd188 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e72803af-f345-4422-a424-44f40bf02a27 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e56696ed-8679-46f9-a949-bd0ab0a23705 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:23f11d03-e4b5-4077-9751-0e4f04432cbb phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:74827744-11c8-4754-9a66-453787645886 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0008981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:f12541be-ca7f-4fb0-8048-9a7afb115f01 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:d7ff31a4-e00b-4f2f-aa2b-842e149c1b8b phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:eb71cfa3-46ca-4a46-bf34-88f63b765914 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_phenotype HP:0032234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10662742 uuid:e4d30617-3972-4aa7-ace2-9a1655e2a6f4 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:10662742 uuid:dd4d3f76-6a2a-4158-a718-eace07b3bff9 phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10662742 uuid:26260684-076c-4145-96b0-ca583d325fd4 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:37843397 uuid:66797fb6-0e36-4414-a01f-4015895af2e1 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d3d88d7d-16b9-45b0-af10-520f3c1c63c6 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7586bf77-6284-44a6-94e7-5517264030ec phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b2d8baf6-5ce3-406e-8ecf-2427271f4e09 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:eb4845b6-66c3-491e-a52e-c5c146f29ee4 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:d2e573bf-1d74-42d7-a6a9-6fb222e5a3f6 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:303d7b7e-40de-4aab-8558-3b670cda0611 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c2e09268-4d60-4cbe-9906-7fe390206ffe phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0a7c7a90-5eb9-40ec-a95d-d8f6e95c1631 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a9a98096-c8f3-49cf-a6af-a386cd89cb1e phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dfc3c64b-887d-4596-a6d2-33c9492ffdd0 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f44ca03c-185c-461d-81ff-5046d04d6c15 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f1368abc-7aba-4614-ba66-3eed23df1ab4 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1699dc3d-a8cc-4162-8698-45249d9c902e phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8cb5fbe8-fb46-489d-8f84-1a454a938e8e phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:73861db7-0e51-4bae-9062-6a2907116dbd phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:d6db9524-d02a-4105-9679-f9fb8ded6fd3 phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:25e7072d-b606-4229-a99a-4ebe057a1741 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:64dd6c2f-f021-49df-b396-d67ddbef3502 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:30bc472d-5af6-416a-b228-c33c1f47aebe phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:765fd01e-abf1-4a8b-96bd-c412fbb0f62e phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0fe6b27d-ca7c-4238-a162-90f2b06f868e phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e13561ea-70ed-4903-b2e5-ebf79cbe6d70 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:2447040e-b3ae-4be5-83d2-d33bb009b6e9 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7b56847a-d1b6-4615-8a29-1e9d1b873524 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:31c95c34-b11f-470c-8976-ec03b39b1ab6 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e629ed65-1e1d-4c0e-8dfa-f2d3cdbaa3ed phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:83178484-cfa4-4a0d-8f80-26b56f067f14 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4aeafef3-edfb-4d1f-b02c-96be60d15e26 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9eb3b149-eee9-42e0-bc87-9b6479f835ee phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9366c21b-32e1-4bdf-94f9-cb8b98bd4cc5 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:bd9019c0-3c5b-4ffa-9349-1de03b02347f phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cce2b4e1-080a-466f-859e-6b3ab8567f3c phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:10580070 uuid:2252b22f-b410-44b8-af7f-2e076ecf9a0b phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:9b978494-e96a-4a80-be2a-b9e25724a475 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:69154e42-324e-44f9-9c2a-c8d6cb234852 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:39bd7fb7-9ae1-4159-a993-957f12c05e25 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:10939567 uuid:91d03cc4-db3f-47a3-a2df-8b39f5d20bcc phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f894d75a-01f5-48e0-b423-a3c0c04287d3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d803be9a-a116-4c26-91c3-8a4a211a1ae0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5c3e9acb-34c9-4ca4-aaf1-fc4eb5355229 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6620b41f-6348-4ea1-9769-34b16b302f52 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3ddd5447-d83f-442b-9413-2b5d19592572 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e4e5fe83-53db-4221-a7ff-781ebfb8ff70 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7f4d12b7-f43e-4c48-9890-86eb8a77fd77 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0845c655-9f82-4052-9ab7-74b44a686caf phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:dff4fe27-eead-486c-96a7-5ebda7e9e6c9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:17b09392-2b24-4d5b-8712-2a7151a18724 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ae037ff2-6b62-4ff4-929a-30211f78c934 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cdee3ebe-ac70-40f4-bc86-ca3586274689 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:822db7a2-e980-488f-a883-eaf739afd8cc phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6daa70a7-4c4e-4b6d-90bb-74320b265b85 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6e9689a1-a5c0-4b02-b5fc-be6cbb09124c phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:70531017-a427-4262-8129-542bfa261c0d phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aefd5a6f-88b1-495e-ad28-603badf75419 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4005a3ee-76ef-456d-9106-a1401497d483 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0a8c5eac-ac52-496b-af0a-bba8ed3d310c phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ae1a304b-72fe-472c-9823-257ff8812e9d phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2a0b094c-4e9d-4971-b024-643400f68d16 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:daa2f2bc-4621-4372-b2eb-2c4b7cb2f94b phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f867be2f-42bc-416e-9529-4110d8929d7e phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cf84f933-55db-49e4-8174-5f16a1f35d1e phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1fde5c03-49f7-4631-bdc1-58380667f1c9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:10c38e51-8acc-4d6a-8f30-cbbc142cf534 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:edb57d16-87da-402e-830e-a0227f4550f4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:699e0b45-c775-4418-8ef3-b39f2e3497d2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0a5263d5-147a-45ef-96eb-539e73279846 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7e4b1c6d-5380-4399-a9fc-3a7036a0bcc8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:33b418e9-e4df-4ade-886f-05b4ff3728e8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:9ee0fbac-7cf4-4d09-8bf6-525999da71df phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:a4e8ded8-5cca-46ec-83c1-d69118796c13 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:37843397 uuid:643b4dbe-a678-4f02-b116-7ea4a291277a phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f5e60d0d-79ec-4cb6-9880-e07547d6f090 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5dce446c-5c57-4147-9064-71d0858444a9 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:dd6da0b2-2774-4edb-bc62-cf09e9fd1b4b phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bb065dee-e3e4-4fe0-aa3a-46ae49007032 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a0053828-2645-4f4d-bf55-5c3cf1b9d38d phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:97d6f4d8-f43a-4515-88c6-63ab0842c225 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f2e16092-2c06-4d95-a72e-088019e669c1 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3a929f9b-bb29-4b22-b219-1e3b1e1e4fb9 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0f58f7ab-4110-42ad-89a9-e71d9d07a575 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c8ca346b-4ae2-40ba-95f3-f2199a891303 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:09feead6-9cb5-4dbf-b42c-76c524fa5b3c phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:91533bea-2d79-43b0-8b52-6657231d3139 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e78db500-0118-4548-bfcb-a61df1f55ec5 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:5c200c18-f803-40f1-8083-12e0d4ae92b9 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:e7a1d165-51ae-4458-ae30-f0d71879a026 phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:c45a72cd-6096-4160-ba5b-0c7aaa2dac0e phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f681b3a6-5c0d-403c-8c4e-0711a6b37212 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:418e04bc-2dbe-4ac2-b877-6ce236a48a0a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7b19754e-f01b-443f-8df5-fd5fc5f14fbe phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7f3391c3-7ef3-4e33-8bb7-c7461f6a95f8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ce4f3c9e-c8d4-4423-86a1-3bf32c929acf phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:9c6976d4-8ca3-41aa-a0df-de4571d68570 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d1391005-7d61-4dd3-ace1-d8975b00a226 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3e202b49-a3ed-499f-a70e-13f1ad9533a5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c35feecc-f6bb-4c83-a33a-b2671c4bb7cc phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:73e6e8a3-12ba-419c-b73b-0e895f8d2fa6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:26db2272-a42b-4946-b243-fb3cf7eb73c1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:50d5feca-95e6-4a23-b990-1ba5a7f88e87 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:09afe942-e3cb-42d9-b229-2fdf6c5cb127 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5fc316c6-8802-4c94-8f59-b2defe1b28b4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:270b9407-e6ff-4d9f-8ce0-acdfa1d894ef phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:85586785-ce67-465a-a0ab-70cd09511260 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3e3117d4-6ba3-4c79-94fb-b0f395c2ccc7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4321784d-43bb-4232-a911-275017b5d360 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:cb414eb3-824a-444e-bf58-b9f0d150a4f8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fdd79e3d-ca21-494c-ae2c-f5d4e29c939a phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b1790a40-b01d-4943-a92b-dc7c98218766 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fa3c3c5f-779d-4586-8706-c7eb737db18d phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9d0f1cd5-5230-469a-883d-5db6a364eec8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:09738b9d-433b-4707-a530-1f5bc07a7184 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:500448d8-ec7b-481d-9fd6-35f3e2c42f24 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ba06a655-ff4b-4783-9270-badc4407f626 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0b313a29-2dc2-48a6-b805-fb2eba2049e5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dd460c9c-9346-4c50-807b-0655c0c404cf phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:133f5c5f-15eb-4b36-9b19-1c74dc6a3993 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b1812cf0-e7d5-4de1-97a2-fa28eaa791b9 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:881dde10-57be-4231-83f5-3fbcc25e3f18 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c35307e6-c27f-4536-81fc-8d4dfc90dd70 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2d61f94d-19da-4bcb-916f-955d553d9615 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:753ff645-882f-4e43-a2ff-a75d4d2424c3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:2458bad6-e94a-41f6-a14f-60b3b8ef0816 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:37843397 uuid:381d4ce3-2e11-471b-ab11-7c972ccddabd phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f4821654-d842-4976-8aa0-12751a51a550 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0dd21314-6c96-4e62-8cc1-7b028714e740 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:400d79ea-f80a-4473-9da3-82be8df02d51 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ac5a7d6e-903e-4cfe-b2f4-57c6ff3ab993 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8cbcb556-eadb-4483-9a76-5b0dd2621a2b phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:728fb315-2a09-480d-9fe8-6fdf2755d037 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5fdfc1fe-303e-4686-8fb1-8519393ccbd2 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9b419e16-a5db-457a-9098-d54cdee35e40 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f23b7c9d-6bd6-44bf-bf0b-cffb19d1cd7d phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3444cb9d-f120-4833-b441-7414466db364 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:dd4bc205-e834-464a-aedc-0df45e3558ed phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1a7ff719-908e-41f2-86b6-e28a7d1beda8 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0860ac36-0f4c-4d88-bf0b-aaa518ffc5cd phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a57cceb8-f7a5-41c5-8120-c839c1c74937 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7b6fad8a-e475-43b2-b933-724a6dd16b71 phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:19fb2d8d-5c22-4662-b1f0-6b99ce9e732f phenopacket.store:LMNA.PMID_37843397_TR7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:de38364f-b559-4f22-aa58-f20954e66d01 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:53350dcf-32ff-4000-a66b-fea88206c00b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:512912a7-9b09-4a73-8c1f-535e9f19207e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7e806939-1046-494f-8b0f-81feba4991c6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5253a3a0-5553-4253-8215-3af2e02ac219 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8dfedf1a-879f-4024-b6e5-d9841cf722e8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c1c7f833-ad9c-4631-859e-23e3a68d52b5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:369b411e-d7fe-4b6c-9311-25158f3437b3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f4ffb156-2e61-458b-a795-1a15a3cce0a8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:107708e5-d039-4da3-86f1-29c29a1be365 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dfe27c13-ed79-456a-a534-432f0177284f phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1d0aea26-75d1-40fd-9f49-b3f6f5520919 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:60891de9-cd28-4354-aac3-f22c58947193 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:84dd44c0-f109-487a-8591-2561f4317d34 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:66a937b3-e633-4dc4-8500-91820b31f448 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1f6a3d2d-ffda-4b17-96d3-2b0e9d0fa610 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6b47e012-6fac-464e-8e0a-8dc8bcba1d84 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f8d2d334-c127-4896-b292-7e9af6315ece phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a0a77701-8391-4284-bcab-4d8c6226d49e phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:72abf384-6eed-40f2-8513-42c977458ac0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:463622d2-1d1d-432a-aa2a-cf829861794b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5ac38888-12c6-4a84-b410-503fe34c4523 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:25213c4a-b9f5-40a3-a3ef-b5cc96e45def phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d806c969-1d07-46b4-a910-38102e602356 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5f4c0c43-fcd6-4057-a891-27bb5fcd1632 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:53d19bec-d240-401d-a695-af2a666f7157 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c9a0de8e-3efb-4ee0-ac59-f2b5e9bb279c phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fab7cbdc-4ce1-4c7e-8f3c-e7bdedb703ff phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:dfa2a9fd-ef1c-4e8a-97cd-80197d60aa88 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1007a06c-37b8-440d-85bb-aa8dd52c65b5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:36a704a7-729e-44ab-8a06-daa401a76e8f phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:f077dc9b-1e6c-46ff-8d58-77981bba8c5b phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:2083b274-ac6c-4199-aa26-32e2a7ea4d0a phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:0921cfe4-cb85-49b4-a8be-c8f15b09ea38 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:cb650905-e61a-47d1-aeb5-5a6dae80792a phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:69fe08ee-2439-4020-a806-168008eb7499 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:716cfb6d-f5a8-4b26-9465-9f60cb195b7b phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c043ba7c-7546-4531-9bdb-c58ffe3aaaab phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cbd1d167-1988-4a66-aadf-b3b8bce5389c phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:52e0a5cc-1d57-4270-b0f5-889bdda5a50c phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:cf077619-6724-47d0-a95b-a631aed39222 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:107ab102-1b1f-4464-ae83-24764f4b55b4 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:bac36c33-a307-4ab3-9138-80eb4648aeb0 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:c9155313-6900-44e5-9543-34018f4b3aba phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:0e77586c-184c-41ca-8f06-63023be293ed phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e50cf359-1042-4559-a619-e02a6e57e6a2 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:ae5660cb-0a61-43a8-9cf9-a63a01233d23 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e985386b-4370-45b3-be00-66fac6bd2ef9 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:10580070 uuid:e9d558be-d1a6-47fd-81e0-77b61763f72d phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:5eda7fcb-6111-4f1c-9b54-ba19f62aa716 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y11M infores:phenopacket-store PMID:18256394 uuid:d7d7b24e-6f04-49c0-9168-024bb82f431e phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:d6bc6d1d-e4c7-4761-af6d-fc74893da854 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:92e2ffdc-c162-4b14-ad49-f32a7e247bb9 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ba9cfd2e-1be1-4aeb-bd6b-86d5e737aa40 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:715e3a98-4730-4ffb-a3c7-f1b3e6ad29f9 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:ac4cf071-7601-4834-a778-746a32b13175 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:0b300b86-a071-4583-9d97-affcdb897855 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:b47a8b86-7635-4096-8912-b6d8d4574290 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:dbfe267a-69ac-4b23-a18c-6693c2220e23 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e018e19d-66e2-455f-ab75-26f587908b85 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:39ce25dc-038a-4a53-8d08-7bcc161d3eb0 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e55ce3f5-bafa-4800-bf19-68bbb5b15718 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:cb68b6d4-337e-4cba-bd8d-5024265e3d5a phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:78e34a51-743d-4857-9bc8-7bb0a08f54c1 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:57bd5e04-6ccc-46a6-a859-7eca099df3d9 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:58c6e763-c6d7-4e62-9554-ff644870028e phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0012632 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b1f2ac57-f44b-447b-a216-26aeee97c579 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1c553be4-d23b-496e-932a-8b4ee987471b phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:3694f36d-0e9d-4b50-aeb5-3b25713aa6e1 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:865e0810-7612-4cd9-8bb7-547cc07bdcc2 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:271fe570-de7e-470e-9424-2474e1d2bafe phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:072788f8-7497-4393-90da-2923627f42eb phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:2432d3df-9737-4f87-9b16-642f1a17f186 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:cfaf45a6-a3f5-427f-a717-a2401df1086f phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1564ce1e-e4df-4181-8a9e-9d85ba9aa126 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:bbf9cd0a-745e-426b-bd5a-5469c26ccf83 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:43ade5e9-887c-489c-b9f1-12a4315af99a phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:6e66d1ef-1a08-47e5-90db-acdecda31de8 phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:b784a5e7-7e0d-4a52-bc8b-f20addbf765c phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:7278aa52-9d16-4eaf-89ad-4c59739dd0d8 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:17250669 uuid:ce862540-450f-4555-becd-fe606973042c phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:a195a1ce-3630-413d-9825-029d1359a5e6 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:79e3a292-9001-4e5d-86b1-b8205971784d phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:9269e0c7-07f4-4b87-9722-aae58734d9ba phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:c2c76af9-e6ed-449c-b298-9041c7fe39bb phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:b5f683bf-4237-4189-babc-de4168ebe38e phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:680f145a-7921-4a21-a4ba-ddcc746d2957 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:faaad0ad-b1c2-4639-b047-c025c38442cb phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:3fece32d-6d8b-4dc3-883a-9a38ebffb6b2 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:7ddfd929-42f7-42cb-a2df-8e47901b5e24 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:140aa2dd-5b37-4969-9146-4443bd73f448 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0000991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17250669 uuid:fe522e6b-518a-4f49-ae5a-f944d0ea060a phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:1c61088c-8d48-49c6-9b02-7aecdd403a3d phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:63633544-17f3-460c-b4d2-e5a01e03b4ea phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:0af8a51b-3bfd-4af1-aa02-6ee57c36b21a phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:04c0c34e-2a42-4fd6-8277-eba267629695 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:8dd8f4d1-6c46-445e-9ea2-74f642229680 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:3c468bb3-43ff-4195-afa0-d8c2fa7e6a4a phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:8a87574b-fbcf-481f-ac59-3e3dce8b19da phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:52df2cdb-d1b9-4019-b603-7eef34310517 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0100324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:4d986d74-5b85-4a74-8c94-23c69a8997c9 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:0aa4c41e-2943-417a-9860-123526449a4d phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:e30b9e30-2291-4ece-babe-56d48c24e3f0 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:f2537d8d-bc56-4283-abeb-e0e95f578530 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17250669 uuid:fc38a8b1-1bac-4295-a372-678d110985f0 phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17250669 uuid:cea782dc-3089-44b1-813a-c8438c2006ec phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17250669 uuid:1646bd46-64c7-46b8-8096-04aabb4e8041 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P53Y infores:phenopacket-store PMID:37843397 uuid:7f63b4ec-4b5f-442d-9d3d-51f1a3c1cc27 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:437f43fc-8278-4fea-a545-2e2116aa7a70 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:b688fb66-267f-41a2-8aee-ad2fe4372e3b phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:836837ae-4db0-42fa-b514-db14f06e92c3 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:52a02571-2ace-4ef4-bc93-de7d8b73292e phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3eeff98e-e138-42eb-ace4-706304cb72e9 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9782935d-f0b7-444d-b552-6ef0831ac63c phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7e5ca928-5fc8-4d58-8f36-0e9cc39259a1 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c7f536ab-da4b-4a50-b742-0116e1799dbe phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:748d8b10-61c6-47e1-aef8-516912059da0 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3ae7a5cc-da75-404e-94a2-960952a2bc12 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:59a3bcf2-2638-46ed-844d-32890fc66822 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:85663a7d-3e19-47ce-9f15-721b633d5b85 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6a39c4a9-bfd3-4f21-8692-714271dea3d8 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:82f008e7-cf1d-4b4f-a2b9-aaf21b6907c0 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c02441b5-0f0d-497a-adfd-9b259910c895 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:af7887e9-c984-4e7b-acc0-84226ba21727 phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:0191e163-dcff-4df1-8e3e-4f06adc57ac8 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0001658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y5M infores:phenopacket-store PMID:18256394 uuid:1a1cbbe5-2eaf-4ccf-8910-6ab3ad5f0ad1 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18256394 uuid:ccf2c834-4b0d-418d-a16d-aca6f008637b phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:6cb92c55-2919-42d1-a6a6-9f5523762169 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0005117 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:1fd2809f-57db-401f-8409-4e3b30f09cf7 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:54ca4388-f17f-4181-a0ce-862677894eab phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:fb14c50f-a4f5-4774-983c-2040cde3ae4e phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:969f8439-d4b7-4da5-aae7-b744eb88cfe4 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0004421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:9d057d94-1859-4c2f-a922-24ab853c9498 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:a66edaca-c049-4cf5-ae4e-79c01df6ae13 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:eb236a2b-6f2f-48d0-9b53-4ebecf30bff8 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:8962f705-7b68-45ad-9704-7e56ef444f00 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0032556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:b33ce19c-4f96-411e-a297-6c0e8a6fa2da phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:428f1a0c-38f0-466f-8a0d-1a691871beb5 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:922a2f58-4169-4a33-bf95-cdb1435c150a phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:f50a9323-8e6a-4708-96e7-bd1045d659ba phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:eb72c875-6c60-43e6-818d-83432dbff894 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0007394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:e80bf91d-a0c9-4732-a797-088bbf721204 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:7c31debf-beca-4e38-8946-5a138137eeac phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0100546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18256394 uuid:aec03a16-a624-4132-b1e0-d7c6fff0b2e8 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:b2ab02ea-85e5-48de-8295-cebaebc5d3a7 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0005165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:09f2b072-303e-4e6b-8236-d63dba830e67 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:1ac6b049-7deb-47b7-9aa0-598775dbf30a phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:4000168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:bc3b2a50-7ca7-4798-8e5c-887402a2a70d phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:85845181-c15d-49a6-87aa-95fa3d6faeec phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0034314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e5cb330b-afe6-4612-a827-981c0ba12a7c phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:e41ab465-e62a-41a3-8015-e4c4998ca80c phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0032436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:ed36175d-3f23-40fc-8af0-8249013d4f0f phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:3ab4efd2-07a3-4733-890f-f2f79a8c0478 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18256394 uuid:325a1d1f-9152-48ac-8d39-626ce75b0020 phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_disease OMIM:176670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:d68f6d94-cd70-4fb1-bbfe-682b453c786e phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18256394 uuid:49dedff1-0997-48fe-8844-144c4ebb042e phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:37843397 uuid:cefd6bb2-629e-430d-8ec0-7f420a526db9 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:719efd08-c5b0-4cdb-acae-6f6d6ac17369 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:9f1c8826-33c0-4b62-a343-82028475869e phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fbd6356d-44a3-4911-a457-e807a4ab418f phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2a76909e-41cd-4c0f-8f1b-3810d336ad44 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:64e60557-13d8-4742-851c-d3dd3605d155 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0d874e6f-7b43-4425-940f-b8704098191f phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:c6365d4e-f64b-48b1-b4ce-4c1c047cf22f phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b739eeac-c4ab-43bc-ae8d-dcffa4d45255 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:84ac14cc-911a-44b5-8b0d-31021c8e9f3d phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c9439789-f73c-4687-bd71-d59ba495a69f phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f1c44d54-060f-406f-ae09-dcdde1229100 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:0006522c-ec11-4ba1-a6bf-d77ac2458f17 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1316b7c3-6fe3-4d2f-8e8d-4e48a0131a4a phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a0167b25-df7e-496a-98ba-f44b5327ac7e phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:8e8832b9-41b6-42ce-9f1f-473d953488c2 phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:27bc3ca1-d071-4f1c-a761-8222dbd3c6b8 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:37843397 uuid:d43524bc-915f-4712-9465-31cd58cf2abd phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0cc0bd45-a391-4297-83e1-6e746dc749ab phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:164c881b-710c-42f6-9e9e-0744e6c78f14 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5f1ff789-a51c-423b-b2f0-018cf7264a31 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:aeda9240-e7c1-4344-a20a-4bed25e3d342 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0605bbf3-2900-4bd5-ba47-49e0d38dea12 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:4f94f687-a330-4919-9d66-623cb632b2ad phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a8a77449-8810-44d3-8bf6-8673cba50172 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:714dcf07-c468-48ac-8b75-23a894dec5cb phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d0db7d23-deca-40fc-8c5f-f406cbb37151 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:75f66042-5ce8-4e55-9da8-16ac3c41d4e1 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ca58e4a0-0ddc-43a7-8de1-d2dda634aae9 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:21281429-4628-44b2-86e6-41681f8dafc9 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:82ab03a6-5dc4-492a-a8b5-653d9830067b phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bc2c0038-64c6-4604-ba4f-9ca6310a8cfa phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:af054c14-dfb4-4107-b953-ec72cfbc6663 phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:64413b7d-4170-418b-aa7e-4f38b0bd9f4a phenopacket.store:LMNA.PMID_37843397_TR5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:b97785dc-d49e-40a0-8470-793e0aeb334f phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:5320ad69-dfaa-471a-8ba9-0e34c75e45f8 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:66000ee1-4bba-4b05-8b5e-042a50763507 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:a82b4ebb-6334-4838-97e8-b3d562f67b88 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:93d5d7bd-fe04-4bf8-a92b-8b583e0b24bc phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:903d39d2-ab95-4fc5-8a90-a6bd5be73f83 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:9a829559-b6a8-4dd9-a2ef-07eaeee62c26 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e3990c8c-9c20-450e-b8dc-4c25a48e9392 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e7f9f620-c6b5-4647-b795-bfaadf59c8d0 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:75705281-13f4-47a3-9883-61f6ba22de1e phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:af7099e8-0e38-4292-98d4-3e2f628e4c37 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:176b3a64-a71b-43e0-b619-e12e767af27b phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8ef20d97-772a-4cc8-aef2-a74024339f60 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4235abdd-7295-47f9-b2a2-35e58b034cab phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:8328bbfb-e493-4139-bda5-5596333a27ef phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:47ffe39f-a93f-48b1-b61c-82bbd9d71393 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:10580070 uuid:50ffbf1d-e841-499c-aeff-266b8f87f5a3 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:c0c7913f-e2b2-44dd-842f-665e41ab489f phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:10939567 uuid:c080306c-0ceb-4f7f-9a93-24d758cc5210 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:10939567 uuid:470eaeff-08e6-4749-bf9b-335353adfa4a phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:fbd79ae9-c5d2-44c8-9e31-0721711a0c24 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f4aa0a84-c4d2-4426-adba-b9f6ad785442 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c7235958-3d8a-4516-807a-95ac5d59b834 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5aa9433a-415f-473e-bc9d-1b7f8a7082f9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:39c856de-f8d5-4482-b330-0fc56a5e61ce phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:1091ef49-049a-4d8e-96dc-0d86c26dc1e9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:86a58697-79a4-4318-afe3-860d71519548 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f61e42b8-359a-44d6-ad05-89c7f335bf7d phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e746b0c5-fbc4-435f-a6cf-c0664803ce2a phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:31ca2ba2-2ce3-46d0-9998-b5b9d3713132 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:679e06a0-9560-49fc-a131-9a8cafc73358 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:805f5cf5-823c-40fc-b4fe-29042a172b57 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:68831613-3628-4648-8dc6-0054b7d86e75 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ed43f2db-9936-4759-bfcc-77c561b6e6e4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:abfefe7b-2ba3-44a4-9e59-dd9654ba10dd phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a8b6b677-fbdf-4f4d-a7db-5df0904f6006 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:276c26d8-ab22-48c7-b104-7fb64a46ff3c phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:12689c09-39b2-468f-bc69-e11bee53b7e8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:13c8f618-8d15-44d9-95a4-dbc3afb589be phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:92742722-ca55-4bf9-8214-f15164e67fb8 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:efc71320-e6ab-4fe0-a8f6-82f6d895cdd0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0f3d8769-a3de-4d12-99a1-58ac5d88ab03 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b7596151-4581-482d-801e-c55d01926d39 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:fa65c079-7e54-40d9-b6a7-a13ce5aa238d phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f49e117b-2e29-4328-a6df-8bfd2c02a780 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:506baf6a-59c8-4d25-8b24-40ce0347cb22 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1d7e569c-1cfd-4b2e-9ef6-0794b25343b3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b35bbe4d-8092-4bd3-bec0-92fa40d45a07 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6fb3901d-9937-4b5b-9d80-49d4247f4b41 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:10ae216b-ab4e-4d39-89ce-c4cb89518148 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:10939567 uuid:327f7287-628f-4f7b-aa22-94d30783d8b9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:74d324d9-4e5b-4438-b2de-7d4a99e9bff4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:848db49f-11b9-4079-a369-55fabdf3405f phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6661ca65-55ed-4c32-9394-99198bd0991a phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bcca694f-3e3b-4a95-a4ac-1a89a98dccc2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b1302b0d-c770-4810-86be-0048a330ab08 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:98f08c2f-58b0-4768-918f-cbaf2a4bf1d1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:697d07c7-d6c2-4167-a8e4-3bd3ecaeb7cd phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:dc50b62c-378f-4e43-ab51-c36d2b5d8f8e phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ba8b08cf-9df9-436b-9ff0-5f03ecc49669 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c106a4e1-b21d-4259-988c-d13287accdb1 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b3a4dfc5-6be6-4566-aef4-d93ff83dc03b phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f21b8dd7-9478-4468-b868-25fe9b56a81b phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:50649aa9-1a09-40b6-b2c7-7705340fca16 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:88775eb0-64cd-40d6-92f1-742daebf4e20 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d371f719-1bc9-4629-94d0-aefeaa356e38 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2c16f456-e0dd-44a9-abe3-89d7daffb878 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f5e19167-d31e-49e9-aab2-8a1519faa4b7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d3fae288-8eb4-495f-9d93-4d8d4eedffe4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c1b2e5d0-d111-409d-943a-e2dbaf034918 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2ec91f1d-03f9-4c33-a4ab-e72f59df9903 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2c4c1c0f-6748-4b0f-9ea7-924acf135626 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:25adb4d2-66eb-4f01-9a89-0310c14caa34 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:642b3437-e96f-41ef-bcf0-b78d0d665dcc phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6481f58c-2f05-4b92-87ca-97fac98e961e phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c6a514b8-2d2b-499c-8bf0-90ea4a159af7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8590538a-bad5-4d30-bf45-f1b86d100919 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ea38ec32-6ba3-408d-961f-04a5c2182cb5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3cd942a0-ad9a-4b4b-abb8-1d9322545d41 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4f078036-6c16-4772-961a-420d9717c378 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7f16baf7-f71e-4e28-865e-c445b7ecda06 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ef535b24-04e2-4aae-8e11-ab4aa3703ec0 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e61a3319-ec45-44b1-ae70-4486a0add3d9 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:10939567 uuid:c9b967de-8e70-418f-b6fd-3144306b56ba phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:f074a930-dd75-481d-bcfe-bbe1301ce7eb phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:37843397 uuid:8ead9dc7-7a63-4e0e-8bc9-08be79632439 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:efaaf546-9011-43c5-bfd4-b59ca3e83a67 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fc618b3b-921f-4417-81ff-3ab433b570dd phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:602a8627-6d4a-4719-bf68-f8e2d0671337 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0b201b57-f787-4bba-954f-73c6ca9dc0af phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7ee054da-e6b1-4046-a315-2854c4f23408 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:62dad74d-8491-4f52-bb4d-dbf22daa40bd phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:178cd400-b16d-4173-8f66-2642d6b71cfc phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5e042a31-2f76-4f64-b44e-66960e608609 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b4c0fe0c-afb1-4bd1-be68-acd2bf1f1699 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:45bea03b-7e1b-4eda-8180-0379931b5911 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:06d9550e-eae0-43a4-8ee3-73c880b7249a phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4deb2425-3313-4e8d-8480-30dfea52eb90 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:24258b9f-b03a-4f90-bb54-71a610273b83 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:50b12ae9-7e5c-4506-923e-fa6bdb9d3ddf phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:6b81d898-cf05-4bc5-ac03-f9b381385844 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ded8fea0-975a-4d67-b159-5abb40780cf3 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:00f98b2c-a804-4e89-989d-7445966dcd36 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:37843397 uuid:21317378-7276-44d8-9c10-ff9bf6ad0412 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:009f1927-58bd-4367-bacf-cb532df6a057 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5407ca1f-33d3-45c8-8711-0fe865c5abf4 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:07f8943f-ac6f-49a6-a866-73cc6b48ddc7 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ab4b8705-97b8-4631-8c7f-a41e83d71c49 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:03d5087a-86a7-4d6f-b795-2f56cd361de4 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a36fba45-790e-44f2-ab84-038de1c1bdf5 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bc24939f-1351-41f2-92ab-d38f49c3dd81 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:3448dadd-0fa9-49a5-84eb-d90c3106cf65 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cf060818-7532-483c-9465-cb7026fb540a phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:fbce7a1e-1855-4c8c-a63d-e7fa044e5193 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8fcb3078-a933-4bba-b868-0b14b5d0c552 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1b83fa9f-c8ff-4ffc-ac50-8f252baf0d71 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:4d94e1a9-4750-4a8f-9137-a2d62c18ffe9 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8dbdfb31-08f4-461e-95b8-bf05dc158769 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:124eaa4b-92a3-4354-90bd-b7654301f646 phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:46863073-c084-4091-9d19-00a58e44f74d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:3c2f67be-9fcd-4d7c-9966-920a6511189d phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:b3299a0d-bea2-4c4d-912f-bf1631267cfa phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:4b1a683d-73aa-4c68-a63a-fff11abb00bf phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:a17f0274-e85e-4fe6-9971-6ad1a369e79e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d8eebcc8-025a-459a-8be2-4e939015298c phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:af07c4ac-f77d-4785-8953-48dc6ed58e94 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:46a23ad7-067a-4808-b04d-1f7611e56cf2 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:7c37e1c3-f967-4d7d-b276-38a3c5fa699b phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:126e83ed-e188-4172-b0d7-8e154a08fe07 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:357f4fdb-0953-41a8-be46-e0de2ec6324e phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1409df02-c4c0-489f-abf5-9fa8fc0181a9 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:97bc4dcc-71d8-4447-8f78-ca6b33d41887 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:d2efc115-724d-447c-a89c-583e7a71f515 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:e0334407-d52b-4c4d-ba0d-c6611eab1fe1 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:de6ae817-6129-4bf3-9779-5037b490b0a1 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:10580070 uuid:3801be10-53fd-4d1f-9569-444b66b97305 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:4ed15148-32ff-4967-8381-328ba0f90dcb phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:18551513 uuid:e500aab1-382e-475d-a019-0b97eeeb3fd4 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:2ce1256c-5968-4768-be64-a64108516835 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:4f3c1d75-be6c-48d1-872e-bfa49fc3c18d phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:fa24484b-c7ee-4f2d-85d4-3caecb7b3c2c phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:01b6dc1c-c793-49be-a08d-40bd0889e25f phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:b3d95c64-5e23-4d33-8d2e-7d70a8f217ad phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:6de539b5-a349-4123-891d-f4a8c57f2046 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:11c06bec-e1c1-4b83-b9cb-212df006bb93 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:8cb3f6fc-587e-4c5c-a2e9-1f44b77dc3d3 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:ba89aa25-3046-4108-9e2b-d2f2f1c4d0e4 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7e925243-8d5d-4367-92f1-ae887b3c90a8 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:e6f65d02-7b27-43ea-ab52-1e8b54c0fe46 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:88f8d749-4d9c-4e71-af72-5cefce01df97 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:ab96149d-20e3-43ba-9cec-8aeffd180d6e phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:8707af51-5951-49f8-95a0-2b179afcb9e3 phenopacket.store:LMNA.PMID_18551513_6 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:a9b985b3-174b-4dcb-8482-8cd0267a127e phenopacket.store:LMNA.PMID_18551513_6 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:18551513 uuid:60ed9721-5c6e-4bbc-9c2d-c009409521ea phenopacket.store:LMNA.PMID_18551513_6 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:48cfcfcb-7cfb-4d33-9f69-22ece101a7fb phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:c39bac78-3ee9-4dcd-bb63-5ea9beb5c03b phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:2a09bf40-ca3f-4e75-92c9-14f7aac5037e phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:d29e76dd-4533-4ba1-ac81-7bd322d471d5 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:fc656d4a-a2cd-4673-adf3-7bc2dad71b2b phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:12103833-ba1d-4721-8f18-167a34dc1837 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:86466bd1-c2a6-406c-914e-1f0f273e2935 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:a41319e3-0f82-432a-98d8-820f66296b13 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:618bc40e-812c-441b-acd3-3f369252e959 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:2dff5407-d16c-49f3-bc49-3b40763d25a5 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:acca9cbb-aa54-4f44-8f8b-c53ec23d5491 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c8f0b1ba-af51-4d04-a090-5206d3bf538a phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:b5693471-573f-46a0-9159-0ea500cf7ddd phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c41f9828-4586-473c-a5c2-eaecfc2befc9 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:5cc09457-2ba3-4087-8a2d-5937b2855c89 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:c11f85b9-495a-4055-9cd3-1d192e8b7730 phenopacket.store:LMNA.PMID_18551513_8 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:97626c22-6b8b-41e5-9fef-4f9b69d14063 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:e58b0dcc-64e3-4821-b7d3-46d87779d5c6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:7c1652ed-904c-497b-b45b-9214ebf30253 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:49187a0a-d3fe-4e3d-a05e-df2537ebc97d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c4c9260d-3967-4177-9657-f67e6a92fc8f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:7d2ff233-7b6b-4ca7-b616-09f45c728137 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3ecd9f19-bb23-429d-a606-5efabdcf9713 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f8eb3969-610b-43f6-aed6-f8726ca93955 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:cb458e57-9402-4a90-bcd5-869e8754b775 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c800184b-5afd-4c0d-ad07-2d9a7bb9b231 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:59bc4dd4-dc6d-4001-946a-1a4fc56d2c09 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:8b520707-848c-4507-a997-9b5680d8bc4a phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:c21136cc-87b4-4083-9e3e-5a36c78c1386 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:cd34fd6e-19e5-47f2-8f69-2c907f147791 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e9a05635-bc2e-4e25-ac28-d16fbb369f39 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e81bdd66-8786-4956-84da-a980ecbf4130 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:66d55dbf-7eb6-4169-b32c-99b66db14824 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a8258884-141b-4345-a79f-d2b9f871f8bf phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b8d7fb97-f43e-4880-863b-2eb336597619 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:5275b4d7-f06a-471b-a777-29328fdd7c14 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bd8d8df8-076e-4e46-afc0-e80e1dfc18d5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:85a1ac14-c9cd-429e-b2a3-7bda44e5866e phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4f682cb9-0db0-4505-bbaf-30ae5a08e618 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e680e042-6703-410e-98eb-92d73450e33b phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:88e76571-f174-466b-ab65-7418d282cc48 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9b7b0745-bfbb-44c2-bb4c-c3834a4b34a5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:27904776-243a-4b5c-8f38-04001c3f9917 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:1ff01992-b1bb-41b5-bf55-a9c9bbd93e16 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:aacb03a1-f935-4f41-90d9-aa0fd30c99cb phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:22ec3638-a671-4ba0-9295-c17ce9d74b8f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2c1d18f9-003d-4a6e-b6bf-1f3ea3713338 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7075a24c-72ab-4efc-8122-f40dd875c308 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ced289fe-c9db-488f-a0d2-a4ea0c7dc083 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:17436c85-7054-4995-aab0-5f647de341f6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d62907e8-43d1-4e1c-bb4e-09e9c2f3e2d3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:e89f904c-8441-42c0-8750-a5cab253dbb8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:88656b00-f591-4f76-a718-7bd240d98c31 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:37843397 uuid:be74832f-353e-4be4-90ba-53e295051d86 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:16a01c3b-601c-42fa-85e1-fabd88d9a19c phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:69476b5f-f515-4e20-afe4-d1397af98643 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:023fcc18-fe38-424e-8725-1939ee488628 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e051f5f7-374a-497c-a97f-a589e29f4544 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b165841a-8e5a-4a2f-8168-75ed14a2b400 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d7b859f5-0566-4145-8ada-a0dfd562af43 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:db7dedc2-b026-4b0b-b316-450ac9728d60 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:68c074fc-43e2-4104-b5ed-016187a7d93a phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:8ac3e188-ae33-4168-a408-dddc7d8af0d9 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:b415dc45-cf3a-4269-9210-b3c74f832f98 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c55bab61-1c72-420e-a501-ae0a53b387d3 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:277d5def-3327-4f3c-bdd6-bdc0ece86068 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:7b8ee5ea-d843-446e-a199-85ca9d441825 phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:51d9ef0a-1477-48df-9bb5-30876e90732c phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:10939567 uuid:f99ddd37-d66e-47f5-8b84-c4af0af91ae2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ce649c19-dbb0-4a0c-9618-87a4c3a9222e phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bcba216b-7a98-4abd-8893-7608d7985056 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:ac74c5a9-e1bf-4897-81b9-4930a256c169 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6b36e1cd-3cc1-4079-bc6d-d4b4e18ba527 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:73be6a7c-aa9a-4c1e-bdc9-a94ee9de6c6e phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0011675 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:a8400ba7-2eb8-41a5-a0c0-f6a41249cace phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:d9783f9e-dff9-4657-a3fc-111c135f0383 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e8f0a8cd-ff04-4f8a-895a-1eeec8d1a38c phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b35ec108-cf59-4c65-8241-d91b386e70d6 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:2b35cb38-7566-4064-8384-ce4ef34bd503 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:927d0557-9e55-491c-ae8e-84e58acbf07a phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:bfbba736-1cbc-441f-aa89-13a7a2da0236 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:e4058ec5-bd20-4143-9050-e012591dfa85 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6898e8c1-b62d-48f6-9958-5800dcc87bb2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:118e5979-3a90-42e2-852b-251fe341895d phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b1d752bd-a319-4d4c-bf98-b88fc56af796 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ce0904fc-1063-479f-933a-7db600b9aeb7 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:a41e635c-8fc9-4a72-99ff-5640fe925957 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:88801376-e538-40a1-9fdf-5818bc5c3b42 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f7d6566d-398e-4a50-9054-a74115948528 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:232b49b7-fabd-4e2e-ab4c-26047103196e phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:243a10b8-2ac5-4c96-a8c2-4ca72136b1a2 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:8a738cc2-c730-4af6-9e09-c0d0263692a4 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c2c7055e-80d9-4074-9a71-5eaaadb2e22e phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:67ce55ad-3d81-4c66-8f5f-566cd244dda3 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:23937315-8a58-4ecd-9762-41cc5e538e9d phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:3b02d09c-7507-473b-8653-e461ccf399f5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e1ab4755-28ec-477a-98f9-c398d68ad8a5 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9e69d195-0d3b-45fe-ac8b-c5621c547636 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:762844ae-a956-4f0a-b251-340274284f4b phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c20408fd-5d56-4d9f-beb8-03b49f44b38b phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:10939567 uuid:bfd15852-a3f0-4223-81c9-8f5478d64696 phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:6f926469-bff5-49c6-b57e-0ffcf32e1142 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:37843397 uuid:1143fa9f-ed43-4845-a321-e213d3043f5d phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:2c069835-599f-4e2b-b83a-26cfee2906cb phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e564fa42-13c3-4669-81fc-af8b099c7c37 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:836f5e0f-60c0-42ac-9cde-e47192e6b14f phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1e2363a0-b51e-4862-ad9c-8414c7721f0d phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:5bf20dc7-f71c-4dfd-93c0-9fd7f30218db phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:0a3731a8-868f-4e83-b1f6-ee81e520331d phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:420157b2-0963-4d5e-b985-360469743e6e phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c4ccd2fb-19a3-454b-8bdf-30e1bfc064b0 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:cb78a1d0-8a1c-43a1-95e8-11f5b9ac2aeb phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eca436af-2a5d-4221-88d7-c2f84933b786 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:aefb1ab9-c325-4340-a1ee-dde0be530745 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1e502254-c40b-48dc-9bea-a04a8303539d phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:9d691eaf-00db-48f1-89b6-4c7fb4cd0e7d phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:3be8f26a-92ab-4263-ad68-09ac1e3be466 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:354b81a0-850e-41eb-8e38-98db77b16ccd phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:2a3f25d2-2c3a-434e-ad9d-04c2d551baaf phenopacket.store:LMNA.PMID_37843397_TR29 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:232776a5-e5b7-4aea-ac56-95677e089241 phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:37843397 uuid:52639e09-92f7-4c3d-ba5e-ef81d4be8bdf phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:43cfea2f-40ef-4f3c-859c-ea8319b4ac7e phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:ef71fe5e-e367-4259-b23e-3e8a53d1ac47 phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a4577499-b085-4383-b89b-56dbef514bdf phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8af74378-2ef6-4613-8bde-d1ec3e03b95b phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:35b5cc2d-24d0-4cba-874a-5325677723b0 phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:575d0d09-cd71-4610-b4bd-c21ec7757b64 phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7f538b81-908e-4589-8c12-e98aa50b27bd phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:bd8e6896-5d1d-44f6-a97b-3b67142ae06f phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:fa88238e-45d3-4503-82f0-2c8bcbdc6ac4 phenopacket.store:LMNA.PMID_37843397_TR33 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:ae56c2c0-1e93-484b-9996-cd3660c8f504 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:46507e4c-f3df-4c01-a61a-9dc0a55e3ea5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:10939567 uuid:511bf8c4-cb85-49ad-8954-464e0c43f8b5 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:62b04ef9-112b-4c8d-8497-45e70cd8ddf2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:6096848f-931a-4773-83c2-86bfc07c7c45 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:5b0994d0-7adf-4299-90bc-5bdc2ca9376f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:b8b3865b-3339-4232-a5eb-e8d852aa9890 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:0f53eded-51f9-4ac4-97fe-85cbc83e05b8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:43fcb816-5542-4566-9ec5-bfcb2eadc5a8 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:f1831aa3-8199-4185-9a32-e3ac7883dd19 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0025258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10939567 uuid:3b1cbe31-1a0f-463f-b74e-2dba80184d6d phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0034671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:7fcc1e8c-dc9e-4047-9176-ffad75f8f2af phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:05801f51-e191-4072-8107-25a75d1b169a phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0001239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:ce4b5bc1-120f-45a4-b8cf-759e5a1dcfea phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:0cc8b006-95fe-4ec2-a079-509abad54753 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:e4f44bd9-6ba8-48f6-a7fe-717b4854e7d1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:19009b22-a88c-4ed2-8749-8c51bb4f38c6 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9188ca67-93e1-4e7c-93fd-2edd9909efc7 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f2fb9b32-dc78-4064-af60-8e0391f35248 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:6e7cef9d-bc67-46ae-996b-1786dcd672b2 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0005162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:05e882c3-230f-4493-b68a-192cf6a41efe phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:006156ef-e3e1-43be-a18b-1f4cf8ff66bd phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0009060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:2f62627a-5a03-4988-bf32-03857ea4cbfd phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:9006e790-2291-493a-98e2-c52b66f7bc42 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:4c5ec614-0743-462c-a156-9153615937be phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:bfc4c5d9-de91-4cf6-95bf-c10be3501064 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:d7b72beb-cbe3-46fe-af74-50e337fbc942 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:f10e735c-6e80-42f0-83ee-5ff435e76b81 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:92e84610-c944-4af8-9d02-44028564537c phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:42a6abbd-6834-4ec2-b9f6-e3fc4f820b0f phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:c9ea8f6f-f2df-4abf-b5fd-b75ae64a40fb phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:77eb7916-d7ad-4ae5-8d29-115b0748ac37 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b1e0864c-2907-4bef-8897-6ef9b2dc32e0 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10939567 uuid:b993a227-30df-49bc-a038-4f58c6f1b994 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_disease OMIM:181350 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:10939567 uuid:f708fa75-cac2-4508-923b-1dad9c9032c4 phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10939567 uuid:b73cddc0-34f3-49da-9b01-caf89cae2190 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:bf07df1b-c212-4304-88a7-a061586f715c phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ef64320f-2ce5-4b00-8809-fc6b77bf9716 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10580070 uuid:ff243240-6110-4986-b179-298f5f39fdea phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5bead96d-0cc9-4c0e-9d37-116a562b2366 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:5f46b934-8828-4ff0-8851-6f7c9430f6be phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:73d0cf7e-7ab9-4e9f-bc2a-af13ce9fb636 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:eb167ef5-c7fd-4503-ba9f-f46464fbb1a4 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:64264f87-a288-46dd-b0d3-f7b3b0656ab7 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:89f176cd-626b-4de5-b87c-9f4a8d72178d phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:dde5cf62-37a2-45e2-a5d5-f52c4894fb50 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:6350a2d5-30b9-445e-84c7-86dd7123deda phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10580070 uuid:1bcb0003-1e70-4dca-85f4-c3cc5aff7695 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:10580070 uuid:ea8701c7-9fa1-4295-a0cf-61ef3828f963 phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10580070 uuid:51a6567b-86f4-43ad-92be-76aed9cf4c64 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:18551513 uuid:90d5b31a-c3aa-4254-a940-c60b0af51dfc phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:89c79f7f-ea1d-4d75-aec8-162aa4154975 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:92f2a933-951c-4409-8e1a-0306d16c4c3a phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:80744298-b54e-48de-a188-54c1988a1749 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:df7e4521-ccf0-4be6-90f5-16a6737d3dcb phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:e6ef3593-637a-431f-8bf5-5c9b72a16c39 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:45559442-9bfc-4019-8374-a526ea0ce814 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:7fc1866b-6d98-43c9-9e06-0ec1351e0a5c phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:b940cba2-42ad-4e18-9c66-fd7273d67d85 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:1333c943-f4ef-4421-a429-49f01978dae7 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:d87c1ee5-ce65-4faf-ba87-a2f7b8239d52 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:b0a4fe40-5af9-41d8-a595-37e52c0a45d4 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:c1354076-07f0-45c7-8b97-7b86832413b7 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:18551513 uuid:9ef1b1f9-6ba6-42cf-8e58-3b8a08568ac5 phenopacket.store:LMNA.PMID_18551513_12 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:a48bd70b-8082-47ff-9ac8-d71b0ab59d7d phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37843397 uuid:77df141a-d914-4722-9e01-9732559eae73 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:8faf3878-3241-41de-ad2f-22f85e2c25db phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e9b57bb7-8cde-4316-a8e8-4aa5c5dcb65e phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:e53559c0-ec27-47c2-9da5-3853d24eda11 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:a3523ae8-d1bb-42ef-a9fc-5f9ab85659ca phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:fc9f2b95-9c50-4f14-87af-1e4a545578f0 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ff5f8fe1-443b-4fdf-b8a4-e0ee7cb1cb69 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a3cea09d-fc7d-4c1b-aa80-9c3f202689b8 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a92a13bf-05bb-4586-be2c-48c2443609f7 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:d7d62e7e-b5eb-4a42-989d-6f84fc0979b3 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:f89ed917-c7ce-40bd-8d34-9cbc5475b044 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:45ead61c-4606-479d-b90d-965b9f136d9f phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:eea3bfe9-6b25-40e7-ab61-14d702e378f6 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ac7c6600-636f-40cc-85d3-6d5dc7d9401c phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:47b20135-0b39-4d61-8c7a-b190c1c3b23a phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:ecd6186b-eaa1-4e56-ad41-f597ac23d13b phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:4a04622d-a6f9-4b5e-b7a7-a0b789b4ce53 phenopacket.store:LMNA.PMID_37843397_TR16 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:9be11089-3aa3-4240-a1bd-05ee4c7f9de0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0005110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:25c63532-b681-43bc-8ca0-70873d509ac0 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0033755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920062 uuid:bdb3b17f-33c8-4dec-9fc2-e061a9f04cb8 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:81b64673-1245-471e-baf2-e14cbae9fa91 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:027d4024-25f9-4cd4-a5dd-8afade4e7f5b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0011706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:f938679c-72a8-42f9-ad62-991f41ef2f60 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:6b35dd67-15c9-4b12-ae89-fad81c71de0b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:aeec28c6-20c1-43f3-ba3a-2b1a070b856d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:686f4152-24c5-475b-95a5-acd71d4ffcd6 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:32eac585-b21c-4c95-9f8d-7358adffd88a phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0001645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:4365454a-b950-45f4-a6c2-43aa27f12e46 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:00944476-81d8-4b8f-849c-623d25c034db phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:04b9e333-cc18-45da-958d-30118d249c48 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:82042f89-6c14-4d42-90e7-72e3897b1fa2 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:bb9c03bf-9a24-4a1f-9f4c-9069271c065b phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:7c06cdec-f144-48c1-898b-fc94acc5232c phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:26c1364c-73e3-4bad-ab82-c13d5761ece1 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:fcf4c16d-7c75-4527-8826-8097cef62d23 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12920062 uuid:60fc3bc5-e760-4e4b-9772-7c7dc39a9f4d phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_disease OMIM:115200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:1a8c6bc5-35d9-4f41-a630-0a5fa039de70 phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920062 uuid:73fd7aac-ffca-4c7a-8599-80a96de5fe65 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:18551513 uuid:de3bc4c1-769a-4591-9cfa-7afd4a58a50c phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:363eff95-9454-43cc-8013-bd4167dc347d phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:23ff6ad6-b1e0-44eb-9d5e-825515038f1e phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:435ada97-9b32-42de-a1ab-518fe4a75edc phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:4533ea05-556b-476c-b4bf-edfa5b76a868 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:7684a35f-5939-4ab7-ab69-99497f3299eb phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:3f5de7e3-b9fb-4694-a30e-fbf5ba0a6bc9 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:9e5e54b2-e8df-4a44-83fb-0501dfe6adc3 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:27760d56-9558-4528-b18d-780b62267668 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0003560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18551513 uuid:9c8c78c5-88a1-4223-8a46-6bfb5248c5a9 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:1bef47b8-8852-410b-9e14-ae8d3e987fe0 phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:9b9d6fbd-4574-4c30-b5ab-f53e0fba56df phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0006671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:d167f846-b68c-4a78-97ab-104e30a2402d phenopacket.store:LMNA.PMID_18551513_15 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18551513 uuid:856c3cc2-d9e6-4b0d-a3ae-9d61eb545ccd phenopacket.store:LMNA.PMID_18551513_15 biolink:has_disease OMIM:613205 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:18551513 uuid:0867b0da-0ddf-48f3-8c94-76ba2968740c phenopacket.store:LMNA.PMID_18551513_15 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18551513 uuid:b4311eb3-4be2-4fa6-80a2-35e8554f8ca2 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37843397 uuid:2e335b0c-65f9-44f2-a467-1118c4e6f5ff phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cb11d9ad-84e3-447f-ba4a-b9bb305b4b34 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:160d46de-d2a5-4e65-b1ee-8c82db4f6e67 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0009002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bc7fb6f8-c7d1-4540-8962-a0d4db56e2b6 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:f7cb9b43-49a7-4395-914d-956f13ccc97e phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:15727070-f72a-4bd5-88ae-517acd631d10 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:cdfc454f-abef-417c-a6e1-8c233d16405c phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:bfc3971a-36bc-4e9e-8e80-c8ea26ab5dfd phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:7623df0d-290d-44af-9a83-d7fc53eff38e phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37843397 uuid:1383f0b1-6c69-479e-9e4c-38549267bf28 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:c10800ef-59f7-46b9-9692-19c7f8765061 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:67dff6f4-f1a4-4595-bcde-303f9a467c8c phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:1a7768d0-10ac-45f1-9a6d-d21f7097d528 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0001678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:58c72798-d095-4dee-89c5-7268f6920489 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:a51cfb42-8efd-47e1-a421-31992467943f phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_phenotype HP:0005181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37843397 uuid:7ede8d84-b2d6-4af5-828e-dd3c1ce3b393 phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_disease OMIM:151660 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:83ff2b6c-61da-4c68-9ae7-b13e44ed5dbe phenopacket.store:LMNA.PMID_37843397_TR25 biolink:has_gene HGNC:6636 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37843397 uuid:f328320d-1d3d-451c-976a-8d6437e023d8 phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_phenotype HP:0006443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30881852 uuid:2c7cde4c-8520-411f-bd0f-1420c81c6426 phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30881852 uuid:d00984bc-ba6c-49be-923e-c1f43a3bc1eb phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30881852 uuid:bdd24f57-8cfb-482a-87a6-c06a7afa62ae phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30881852 uuid:639d2ef7-8a72-47fe-8fd2-093f58b1a551 phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_phenotype HP:0009781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30881852 uuid:b56eb474-c476-4681-b10c-73e037449098 phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30881852 uuid:88788072-fc3b-48f9-96d2-c9cb2fbcc0f1 phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_disease OMIM:161200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30881852 uuid:517047b0-f44b-4bb0-93ab-a61e8efed78c phenopacket.store:LMX1B.PMID_30881852_index_case biolink:has_gene HGNC:6654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30881852 uuid:488ac574-3262-4e1e-8701-8a906e93945d phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:50160fd1-4687-45c1-b0c1-af5ad88b0559 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:cd6c9c88-f555-4b72-bc69-1eec390776d2 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:df8fd2cc-bbea-4ba6-9c84-2f38c53df665 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:e57eb17d-b4c7-46fd-9c4c-5c1303241a0e phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:675eebb5-5a79-4e9f-8c7e-b4a4298b4c3f phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:bbacc7d5-aefb-46b0-af7c-2d446f70ec72 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:2a695eed-a5e7-43c3-8590-06a6dae02028 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:563bb625-562b-4896-bc19-610972cb4df8 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:6fa293ab-5814-4f10-a5e4-aad5309ee175 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:5c5a9f6b-6deb-41bd-9e07-7eae21222ff2 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:1cff6c65-015b-4866-82f8-07998b8da2aa phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:2e6b87be-686b-4f42-8a12-c5f59a050589 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:d7a5d326-e98c-4b75-b6b1-e1f62c7ad6ce phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:2b4eef9b-c9b4-4b10-902b-f7fc5e7a1fad phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:5c7d91a8-b7da-43fa-a63b-4e3f3eae69db phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:05ff393c-2821-47c1-818a-0327cb4845c9 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:0d87f268-b0d5-49a1-838f-79bf3e0f3d78 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:1a3c27a5-522f-4a27-8706-eadc3aabee80 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:fa7aedd3-ce59-4593-8d8f-841ae0e6870f phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:19a5b5ba-6f11-415c-9a0f-334a05b99094 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:b8143348-665e-4056-b4b1-1d01b921faa0 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:7339bc6a-36b8-412b-b4a0-44a228446ec5 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:5603e1d6-80df-47c7-90b2-339a4230eaed phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:5d92474e-5a62-42db-ac64-bd62cfd88821 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:130e53fe-0851-4829-84fb-4deac6b7e1aa phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:e47b1c06-1a1d-4305-a919-841cf7113261 phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:231ae878-9f13-4302-ad7c-cd3639583de3 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:3f61f00b-a512-480f-a9c8-dcf605f53f49 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:ba8ca7da-51f7-47c9-b5df-2759965f51dd phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:8a7e1b05-d223-412b-a333-0891f4c9eae3 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:cdb2b0bf-aa65-45b8-b6f4-5cc578edb2f1 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:f826276f-9508-4bfa-82a2-181147899073 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:d506e41f-2a33-410a-a302-c05ab00cb4e6 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:4bd38bef-7ade-4335-ad2b-7e1bc47f0c6c phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:eee25fab-0d0e-45e9-91d7-86348072db96 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:60a7fe90-c3d6-44ed-9c92-6e9eef717a08 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:04fbaf0d-3cfb-43a5-a3a9-ae40764ae55e phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:b6093501-5ebf-42e2-82e6-ae2129bcebe9 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:69268b5f-addb-4f0a-98d8-5b024dd0ca6d phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:7ff1763f-5774-4027-954a-d33b6bfeb1e1 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:1e59ad45-bcfc-4542-9f2f-772de3d3afe0 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:308ad959-88d9-4625-88ab-7cb918d23c07 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:a071327e-3dbb-455c-b6e9-ed91b19b18b9 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:cc26e598-a2bf-41d1-898c-5192cb4811ff phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:44750ff5-bdc6-4f07-b145-031c364b6638 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:deb8e74a-9fbe-422b-8cf8-a367824183f5 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:5b49d7c0-ba64-4b2b-ad08-bf632066397a phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:302449fb-52d5-41a6-851a-21f7d2a57582 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:f5e244cc-5825-4535-a264-a55a77596447 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:90b6d2ae-f98e-4b6c-b600-db5f0f1d118b phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c57552fb-9260-4c88-aeae-b762006cca42 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:2808f6d2-ddf5-403b-9eff-4b9d7b6d7d5c phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25808063 uuid:6da76b2c-c07b-4127-b4d4-87f333929993 phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:d2c8cdc7-7b4e-4e76-8ad4-a1f9ced753a6 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:95f0a2ac-0758-4c56-92d0-b11da2c37da4 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:cc31fd89-802c-4611-a1b5-642947db28d9 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:df78ec31-3e19-489f-8cea-e8ed01695b64 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0002340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y5M infores:phenopacket-store PMID:28148925 uuid:92227463-7ce6-475f-9111-194e138b52bf phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y5M infores:phenopacket-store PMID:28148925 uuid:6cc199de-77a2-44fb-be93-33e34273e545 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28148925 uuid:ab927664-6dee-41d1-b89e-ac5bbeb31bd9 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:28148925 uuid:875fdfae-2995-4ffd-8bc0-444126620458 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:550199b6-333b-469c-814d-79ff6d1fa132 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:ffe292e2-ec61-4746-8d05-8838ea0cedad phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:3bea4f17-4b07-4b1c-b2f5-948171f209cc phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:6c5838d6-d3f6-4b63-936c-f5d7119c4d4b phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:8038b889-9717-4acb-af9b-4df09e254a53 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28148925 uuid:2c1fbd83-70eb-42db-892b-cffb0a9f11e7 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0003112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148925 uuid:8537141f-8876-4fe8-adb3-5f455fcbc57d phenopacket.store:LONP1.PMID_28148925_proband biolink:has_phenotype HP:0003542 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28148925 uuid:d2cda61a-debd-4174-a032-043c42fe4cbc phenopacket.store:LONP1.PMID_28148925_proband biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28148925 uuid:1116b76c-66c4-4acb-b038-d889cd102012 phenopacket.store:LONP1.PMID_28148925_proband biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28148925 uuid:2c200eec-eb55-4a97-8782-bc862c8c9a08 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:f122cc5a-5aee-4a68-ba98-95ad0a579b1c phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:83817ca9-6cf0-4fd8-8adf-d0e468bd35b3 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:656b8a15-c14d-4cbd-83b0-65b5cb22242e phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:f291270b-1e38-4d7c-9a8a-abe8dedf8c0f phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:770919a4-5f62-47d7-a084-9697de15ec53 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:65984b8e-4ec7-471b-91ca-68f81a229f37 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:875a9bd1-2487-431f-aecc-76c9ed0c18e3 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:bf01fbb5-f9ad-436f-96ed-7e21e25bb336 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:10b90ff3-6e62-4bfe-90ee-f53f260ec9f2 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:b2d8f131-717d-47dc-af09-e87ce01a36f7 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:23376497-34ec-452d-8d95-56d8c58d7427 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:72fcab68-8134-42e7-b60f-3b5593dd00ab phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:62756202-6d86-452e-bcfb-04621444e41b phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:913a0fdf-882c-48e7-874b-e1935070ba5b phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:1036245f-8403-4aea-97a1-f79c5bf578d7 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:36a4adc2-5cd3-4c76-93c0-f65cd3ffd8ae phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:492fa5db-4ae7-40cb-9c4b-7e5be31d7265 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:da0cc774-4532-4789-b860-37d2e1823edc phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:2625918b-d072-4273-86e4-aa792c047521 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:fa82f2b0-8a63-472f-9ad5-20419ef2866f phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:b0569c03-c535-4ac5-bdcf-dce9c8257812 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:7d660061-390a-4e55-bde2-4f4f7b39875e phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:cc5e6afe-3ef5-4197-ac5a-aa88311ca9e2 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:9cceb1e7-05bf-4a73-a729-5cd588f28535 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:856fb055-51ca-48b2-9eaa-b31765c10473 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:25808063 uuid:51d3e4a0-f378-4df9-999c-487c09276a84 phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:0fe23738-2842-47cf-9a61-defd305154a7 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:f506eee6-0f71-4be5-8108-3950a44ab0cb phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:74b1d2dd-c49a-4eeb-86d6-278e9378e6a2 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:807d04de-7c10-4d02-8431-2b83f90bfa54 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:271dae6a-63af-42cc-9fed-5999f6c3e437 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:3d627091-0190-4d16-9423-ea2b7798c9c2 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:57b86b17-52de-4144-95af-1b0030b9fa0e phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:c51a3257-96e6-4cc5-a9c1-2aa09cbfe82c phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:515e1d40-9202-408c-9743-34622f068f3e phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:ea8b2ca8-9705-4b3a-b478-75e0c89810e4 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:2cdbdb4a-36f9-478a-b7ff-53386a88fb81 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:030c4f91-5bdd-4435-90d3-40b885f6b628 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:4e842ecf-3d3d-4e36-933e-418a620b886b phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:473cb627-6a64-4c69-aeb9-679d930fa30d phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:d30fdbd6-33f4-450d-9bff-81acda22d623 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:60f805b3-44b2-4182-b4ee-ea58457c6243 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:774c9f9c-cfcc-4268-bfa8-47ecf61fbd8a phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:7c0460fb-e7c2-47f6-8a87-49ee12363eef phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:ed010b31-ff6e-4839-8a5d-d3dad136dc09 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:29e7b7b8-f76e-49a0-a22f-b3122c19ddaf phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:9e773acd-7111-479e-b211-44675c539b9d phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c7e9a1cb-d594-430c-9adf-f3f40f221769 phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:8350793e-9a1f-47d3-8765-a5a52e7c27fc phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:ab42085f-8049-44d9-915d-d179c486e72a phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:25808063 uuid:5b5feb0a-b3a1-49a3-a5cf-81c32ae7202a phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:061c2461-f617-498f-a84a-b4ab20c8b5ca phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:f5823e35-b628-4038-b18f-dd6d011a2669 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:51a95457-b696-4a01-9632-48866f8c93f1 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:8e9c10c5-afe9-48f2-be94-f08a58aef7b4 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:d42d9e9f-89bd-45c2-9215-48a2226a2d11 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:5e05157c-db1a-4edb-8d39-ee5cfca8104b phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:00d3a123-ab81-4e56-a1e4-eb4065df7402 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:697129d0-3300-42d4-8d18-6e5c9ee2a889 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c97858fe-bc10-4e1f-bd8d-b7f89250256d phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:3f68928a-d8aa-4974-bf95-b8e78af10c9a phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:ccc7881b-5f67-41c7-98bf-ffa02f560f53 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:978a1795-b015-4132-b63b-f42929f0c247 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:b4a62437-218d-4ac7-a17d-58b18c61007c phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:90345bc9-9199-40eb-b995-d709e5af39a6 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:f497579d-0fd4-4fbe-82c1-81b17576e5d3 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:6c632ded-becb-4d80-802a-fe4c70f2b3d1 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:784909a1-6b35-43e2-bb5d-bdab0fb9e911 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:0939c5a0-0c7c-4001-87c7-f5123ac24fbc phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:16432362-0a51-4e1e-beef-103f9a66d8ec phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:91c7b007-3abe-4909-bdad-a381a2823990 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:0b3a0f51-ec53-45a9-bf14-a7a0b848500b phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:755ae3e6-f684-40cb-b5cd-778868abc7b7 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:3ee31cc8-e361-463d-ae0f-8b388fff13e8 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:f3be14cb-1f56-43c4-8373-4c00a58339ef phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:fef29534-edd1-4940-ab13-7f4077320a58 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:1e61a3cb-4592-4d97-8ae1-4ab20ed0e936 phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:5cd6c9a5-a0a9-4a38-91d5-f688b307f205 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:dbfca5cf-8bcf-44c6-949d-04abc97d3b14 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:d98d158e-9691-47e8-982e-5c86a83f9de7 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:19793f8a-f362-4145-9772-b8a038e5bef9 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:6be12eba-716b-4cfa-b7d5-5cf5507ced85 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:e565db96-6e8b-4459-9080-1e06160dc5a8 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:73f1326e-a49f-4415-b5f8-1adb4d3b67b7 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:22a32134-2cb7-4abc-b51f-865cedaaf8a3 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c6f9012d-76b5-4a98-919c-019dba1bff5f phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c237e5f1-84ef-4ec9-b143-b207dcc90f03 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:4f0e8cb9-45ae-4d76-9f8a-aa55a9e15207 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:e6f13a30-b946-44d2-b87c-2a9f4edb278f phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:1a412243-cd9e-4f56-9be9-0892388a3c72 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:2a6a15ce-d1bd-416d-be93-0ec5a96ca12f phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:a8c02e6a-7300-409e-8714-5eee127cb25d phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:aa5296db-d05f-4150-b927-5e6341adf66d phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:928ebdd2-b847-44f9-9f61-79f7dbbda8c3 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:9b13c174-3927-429b-ad3d-7b9071f774dc phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:ea66f539-a418-43f6-8407-6255da889bf2 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:3f0791c4-9eb3-4c01-881a-e1c9447cf375 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:4575bba2-3989-4eaf-96b3-769e79675f19 phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:0f48462e-20a2-4542-b83a-6b492e70eafe phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c09ee95d-228c-4bb4-bc67-b1ce23c955ed phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:6cc5f7c7-4c07-4b25-b355-0896ba4d119c phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:25808063 uuid:9124c994-05c9-4bce-b5f3-2ca2c0fe75de phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:b3548d76-ae5e-45ab-b32b-9d6c04c60b4f phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:f1d28b6b-dcf9-4e31-a1f5-d738e8164792 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:fa264413-aa1a-4d0f-8e1b-b0e971d2eb22 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0003417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:50a99f1a-e7e4-480b-8d56-9541ab0206c6 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0009556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:2dfb06f3-8b6d-4a01-9818-c699423570b1 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:22a01b9b-c619-46e1-b50c-72a09e792e23 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:e3300600-6144-4983-9bed-8520979205bd phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:2502d7bb-6f60-4af5-a648-39bf2f7e2844 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:1854c4a1-843f-4cba-b3ff-cee8cfe2ab71 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:c928b2e0-585b-48ac-9f94-617c47e38424 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:e17ecc09-5d6f-43f6-9889-031d127a0a17 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25808063 uuid:032868fc-8a12-4b2d-bbeb-76daa55432a0 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0000143 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:c0873cd8-d577-465b-85ba-bbbb21c78c21 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:7bbd23e7-f47e-4879-9fa2-3b8be365c95a phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:d4af5164-e0f6-4620-8b3d-08547a56b859 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:4fc8338e-db41-4968-a0da-999c8d9d7b87 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:a126e356-99b0-41e0-8325-bf27990cb357 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:fc19b7ae-6d8d-49ff-a657-25877d4d4b28 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:716c4bb4-2280-4b65-a072-85460e02303b phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:30313706-0a43-4fbf-a329-70ce513bd719 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:2d85109c-1fd0-410c-9e79-7f9b6240c53d phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:20da7b3c-ebb7-4f88-a2eb-3ff6c0c00381 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25808063 uuid:7e50a591-4304-4cf5-9704-e9566a367261 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_disease OMIM:600373 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:d069ac04-8583-43a8-8430-f2b666b94953 phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:has_gene HGNC:9479 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25808063 uuid:a8d5af3f-a8a8-408c-9d27-b848b3824046 phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38091523 uuid:05199382-7fed-49d0-b7d3-51f7dba247b0 phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38091523 uuid:89f6c68d-21e7-4308-ab3c-1f34c72b72e3 phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38091523 uuid:d3268a0d-b560-49f0-b5ac-ca2900b547f4 phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38091523 uuid:d12d2013-e27f-48a0-9be9-e551ac76dc8c phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:has_disease OMIM:620848 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38091523 uuid:eeec94c2-35b1-4cc1-9b04-b560d75a9c00 phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:has_gene HGNC:19138 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38091523 uuid:1cd3f135-964f-430d-8869-3be1cbe9709f phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38091523 uuid:05834074-539e-49ca-a8c3-3dfc9dd480f7 phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38091523 uuid:7d2dfe37-d513-4852-9e7c-4d12b2743372 phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38091523 uuid:d225e3cf-69b2-4743-bafa-c59600b84723 phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38091523 uuid:fd7b7b1f-dbdd-4eea-b8d4-02f353266a73 phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:has_disease OMIM:620848 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38091523 uuid:4dfb0897-75ae-467c-96ac-feefcfb093f8 phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:has_gene HGNC:19138 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38091523 uuid:3e7aa5be-aa21-4511-ac23-91078480a132 phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37804054 uuid:0946a5e4-b1b7-4e52-a569-7cd4a91c5445 phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37804054 uuid:85296881-e7f7-428b-bd74-22fefe3f635e phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37804054 uuid:068ec5ab-fd5d-43c0-a0c3-8041415cb7bd phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37804054 uuid:e12c753f-73d8-4eaa-84af-3dae4d2feb1a phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0032559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37804054 uuid:a88fd984-48c7-4aed-996b-3e6c9d718015 phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37804054 uuid:33a23cdd-51f1-4d2b-903d-c8dd3656913e phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0034811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37804054 uuid:920de0b8-f92d-4820-bb06-2770ee235d93 phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_phenotype HP:0032558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37804054 uuid:38d91cf8-eeb2-43b5-8f34-ab9d16a364fd phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_disease OMIM:620848 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37804054 uuid:3047fd53-eec6-4e6d-a204-611ea23188fe phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:has_gene HGNC:19138 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37804054 uuid:dd0cad46-8e45-4f65-a627-e6691cfc4fc8 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:36122175 uuid:db4d83e0-58fe-4b80-9791-707a08b21445 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0006559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:36122175 uuid:394d9012-e51f-472c-a9a4-f0f09c3260e7 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:36122175 uuid:c0be1ef4-fde2-47c2-a6c9-c87c9d9f19ec phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:36122175 uuid:61f94b7b-0cbf-4e0b-9199-a3f1ab3bca3f phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:36122175 uuid:7da35668-e2d3-464e-9a90-a5124310e9a2 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:36122175 uuid:5d6af500-3a93-432c-a989-222521a8e6d9 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:49070011-878e-43bd-9308-985534794eed phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:08ab16ed-5b40-4eff-80ad-a033682bf9b1 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:f7cb05d8-bfc5-490a-9147-99d0111fc071 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:083905de-15a5-4d91-ae4b-e8632285b649 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:e8a6eb67-8d04-4a1f-afe8-bcfae64d378d phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:5736d2ba-37f8-451c-b24b-ba09b393cb5b phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:4310197c-c1c8-4218-9dfb-ba00286e8fc4 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3D infores:phenopacket-store PMID:36122175 uuid:6ef487aa-93b1-4f0d-80d1-fdff08e547aa phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36122175 uuid:40773d62-76be-446c-961a-0ca1f09ac40f phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:36122175 uuid:4da7ea53-b642-448c-b06f-6cd8cf34da62 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36122175 uuid:9605feae-6475-4040-9d67-271bc86b1930 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0100828 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:36122175 uuid:c220fb82-9502-44d2-8f3a-ff94c54bc094 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:36122175 uuid:f899c50e-bf34-48cd-bad2-fefbbe113c7d phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_phenotype HP:0001789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36122175 uuid:97ed0b11-a197-4a52-b53e-d4b00043f6da phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_disease OMIM:620376 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:36122175 uuid:e7646935-f800-4c33-a105-863c1c9fa8d0 phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:has_gene HGNC:6735 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36122175 uuid:fdc1b246-8387-4aa8-9b36-b8d6fd7efc9c phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0000979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:38d5e179-abb4-4a74-8920-fa6a434a0a88 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:b43013a5-311a-4466-b5b5-0d678066df60 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:5fd3aa6e-6afe-4f7a-bb03-b8de5306be31 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:74cda806-b59d-4b53-ad9d-127d50e898ea phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:84b35d94-b878-42bd-b59c-7a82e51e8fc8 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:0bf0a0ef-172d-408f-8beb-0a5971aaa514 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:10f3ec93-1cee-46a4-a033-2c39718f57a4 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0011944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:86b5e8c8-ae43-417e-9ea9-5cd533add632 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0030167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:708e5841-eb73-41d2-aa9f-a937268d369f phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:8bbe4726-d0b3-4fb2-a93f-e7159f725496 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:1bc318a1-7a57-4d46-ae1a-ceed7d77f9f2 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:310b454f-e32c-43ff-9ca9-6688b7f5dbd8 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:559b1099-280b-46a0-a2fb-640adc9012e8 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:07a9f463-f094-43e9-9e14-11b1de9fdffd phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:1fd619f3-b728-4a95-855d-60027bba04a5 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:9f098222-da3a-45ce-9709-d8d1e5261889 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:b3aa480b-5816-4783-8213-60452832ea43 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:1d37ef27-d679-4263-906d-0d69a51988e4 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0033839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:e4d90eef-3e98-4b89-ab53-fe42ba70056f phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:e83d826e-f64a-44b8-8035-3cb6b6b8e7a2 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:fdd9499d-9a33-4a5d-9942-e3193134edc4 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0100539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:cc68bcec-993a-4581-9cb6-35b3e5373503 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:21b5d8f8-b07a-4a38-b688-e35ed06e65ff phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:637ba5f3-d5a1-451a-a639-0ad321cf6f78 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:7b9372e2-912c-4f39-b838-b6dedfc8bd40 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:e277d878-ea4a-4439-b47a-79e9724f7523 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:79c24e00-589c-49e7-9d42-08d851cb9527 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:dcd78947-c1c0-4553-b148-566aabd3c2b7 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0005404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:7d25a4e3-9608-4201-8af3-9b89d63d151d phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0410242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:1de92e2f-d1fe-41e7-af3d-6b9531769f88 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:c8a37bc6-2e6e-4b9f-8128-74f66b04e3a1 phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_disease OMIM:620376 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:36932076 uuid:018f31ed-eaff-435d-af54-e26f9e2ccd8f phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:has_gene HGNC:6735 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36932076 uuid:1331351e-0f60-4054-907c-c98b70f22708 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:5de8027b-2a2b-44f8-9548-097413975f16 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0000979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:fd58b5b6-e457-4a37-9bb2-7c378f8727a9 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:8762a5be-2fd2-47fa-93c9-27406abc2d67 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:82665db9-3851-47b7-813f-e768ccb2b894 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:d3051fc5-5c58-44b8-98bb-1dfddfdd63a2 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:7d632a40-19e1-4302-a067-1301b650f306 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:0040428a-05c5-4873-bd4a-bf1ec0984288 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0011944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:145d4f37-fde5-49f3-a374-047d528009f9 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:9d52d1a2-5633-4878-92cd-92adcd817ecb phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:0c5bf33d-faf1-48c7-aa83-57a504d622e0 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:607e76be-0d61-4f6b-a7c2-55561a187f1c phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0033839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:d4437d8b-ce2f-443a-a0ba-51604606313e phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:9e3ac95a-fedc-46dc-89ed-b003061f9cb4 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:a8164018-e123-4e96-b4ad-8d9290377884 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0005404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:8cba5561-569d-4e2e-a370-5464b9c02462 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:14e3b38a-aec8-4515-91d0-c4ca0538933f phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:215e44cb-d74f-49b7-ac71-4e915d333e4a phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0030167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:f8fd4570-8b52-42d8-8460-89f170e9d4ec phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:d902db2a-dab2-4a8b-b934-415fff69837b phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:c9711d28-c643-47e8-8787-b1e812c5eeb6 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:5ecba7b6-6525-4c1d-bdb7-8f810a366bee phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:29d319d6-e1a7-4352-a760-0743077cfe7c phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:6a01767d-255d-4cc8-915d-3990fb06b071 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:99b644a6-ea2c-4bb8-b974-5d50732d8ccd phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:6e1427f2-0bd8-48f6-9bd9-f86684f1d171 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0100539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:6ac0ed0f-eec5-484c-9048-fc44f0399d0a phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:b7a783c1-0d14-472d-a97e-7991c0f179dd phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:4760d40f-85a2-40e5-a29f-88f8758266a9 phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:f18eceef-9592-481a-991d-fdfce32c758a phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0410242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:ae691ac0-f243-491c-9d88-2618c5b6ca8f phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:a1b685ce-ad8b-4e36-ad23-0a1ec7290bbd phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_disease OMIM:620376 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:36932076 uuid:a2ade2a2-f6a7-4387-afc8-96636cd82f3d phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:has_gene HGNC:6735 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36932076 uuid:edb1e764-ce71-4182-8787-ad84862f79e4 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0000979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:8eb0cbe6-a6e3-4ab9-af42-93b7a95dc3f3 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:53938886-62ff-4586-a83d-d6bad74bd80d phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:3cb3a031-e148-4a88-ae60-66280a374b00 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0000031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:bbf98893-4606-4bf8-ad17-9acb33e0e7f5 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:e07fc63d-c65c-42c5-b28e-c3876d0750ed phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:5b3a739c-3e7a-4b4d-9054-bcad139808be phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0033839 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:289c0319-9bd5-4be8-85a0-54b7204577a0 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:c551b7f1-9735-42cd-b2ad-d923316c7f10 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:0762eea6-0f3a-433a-adce-56ed68d876fd phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0100539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:3fa7c38a-4a5b-4e45-88b4-6929f2587fe5 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:5cf3bff4-9d5c-4133-846a-eeace0fecd55 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36932076 uuid:d7488905-48b1-4e29-8c85-d4d56b20521d phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:718bc353-a6a9-4775-a90a-743952b0b20a phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:aab8fcb3-ff36-468f-9a9d-c77dffb25c6f phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:43170059-f235-4268-96f2-f1365c0bd4b2 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:b31fe53c-1194-4c96-ab4b-1a30de424443 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:e3cd60ed-5d13-4451-9a5d-de21924a2256 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0011944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:bbf23839-b52c-4864-8281-dc4c98d1175a phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0030167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:f70dc640-dfd2-4c76-b6f4-3908781bf8aa phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0025379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:5676913d-f937-45fc-9b72-72a624d2e178 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0025343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:a359a9dc-d1ad-4b69-97d2-6743e89585cc phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:db88393b-3379-49dd-bd4f-de99533cdf16 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:226a5e9f-cb78-4df6-a714-e5375ab83ffd phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:35b72b0e-c3de-493d-b051-95b79c3b5858 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:1cfd6eb1-e338-4894-8ddf-de30d7523b51 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:5b80e73d-404c-493f-84ee-c901db0612dc phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:529926a3-40df-478a-97de-ab64b386e2ae phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:95d42bd9-dfdf-496d-9f0f-13a654ded03d phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0005404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:acdc4ee1-d6f9-4e22-a687-6eb0a5afb283 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0410242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:5838be2d-52ed-4d1e-a42d-e9f51599840f phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36932076 uuid:9d6eda7a-3431-4fa8-9f38-5bc1d467aef1 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_disease OMIM:620376 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:36932076 uuid:e15866b2-cebe-42ef-9eb4-dcbb6f5c4028 phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:has_gene HGNC:6735 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36932076 uuid:8f7df213-fdfe-4fbe-a44b-5e944a852890 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28183707 uuid:6260963a-3d4e-403d-92df-80163df569b3 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0032499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28183707 uuid:c491c43f-71de-4baa-b3f8-1877b4d048f7 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28183707 uuid:9384a5e1-a3ef-45cb-a37c-c4423c0445ff phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28183707 uuid:6bc09dab-bcff-4092-81c5-0fd5c3873d78 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:28183707 uuid:879000ff-331e-47b8-abf4-ee03542d7b5f phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:28183707 uuid:d4db7efd-b349-4b6f-81eb-682af0d56717 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28183707 uuid:a91aa9e4-5c08-46cd-a671-d50e11180a40 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28183707 uuid:52d7e328-c977-4e0a-8c07-87a20d23ea85 phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0001386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28183707 uuid:a36a73b8-b77e-4ff1-9d8e-1f137570325c phenopacket.store:LYST.PMID_28183707_nan biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28183707 uuid:55b75aca-b5fa-4282-b0a1-aae7c08dab09 phenopacket.store:LYST.PMID_28183707_nan biolink:has_disease OMIM:214500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28183707 uuid:79160063-38ff-4ff3-90bf-db0f9ed883ce phenopacket.store:LYST.PMID_28183707_nan biolink:has_gene HGNC:1968 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28183707 uuid:38940a28-e560-47f3-84b8-f7639d90ca66 phenopacket.store:LYZ.PMID_12675840_proband_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:12675840 uuid:ded73109-8723-4126-817c-8d3e5b833375 phenopacket.store:LYZ.PMID_12675840_proband_II_2 biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12675840 uuid:78a33a32-3f00-46bd-b9f5-6a21d5b30c40 phenopacket.store:LYZ.PMID_12675840_proband_II_2 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12675840 uuid:8808761f-a7c6-49cd-b855-1a9a203f3259 phenopacket.store:LYZ.PMID_12675840_proband_II_2 biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:12675840 uuid:e024564e-b610-4d0c-97b9-29f32a745af8 phenopacket.store:LYZ.PMID_12675840_proband_II_2 biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12675840 uuid:00c6120e-ba66-491d-b005-edb616a6f5b2 phenopacket.store:LYZ.PMID_10534505_III4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:10534505 uuid:13b0016d-0a04-42b4-81d7-e35e62c6f08f phenopacket.store:LYZ.PMID_10534505_III4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:696fa289-4944-4ba3-934c-52b7e0729969 phenopacket.store:LYZ.PMID_10534505_III4 biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:10534505 uuid:f0521b0b-c6bb-4afd-9a8c-25b0173e7f37 phenopacket.store:LYZ.PMID_10534505_III4 biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10534505 uuid:fcde7e2b-b4fe-4d58-946d-1248bdeb6016 phenopacket.store:LYZ.PMID_10534505_III9 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:35b682d4-b0aa-497d-af26-1ad6329e935b phenopacket.store:LYZ.PMID_10534505_III9 biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:088e5232-4040-449e-9444-74cda77739ef phenopacket.store:LYZ.PMID_10534505_III9 biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:b5638e9b-116a-4608-b691-411dd2704c69 phenopacket.store:LYZ.PMID_10534505_III9 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:4be07030-c7eb-4bdc-afbb-c1585c138725 phenopacket.store:LYZ.PMID_10534505_III9 biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:10534505 uuid:3b1b1b1a-5110-4323-af0f-da403a6f2917 phenopacket.store:LYZ.PMID_10534505_III9 biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10534505 uuid:86cc02b8-d672-4cb2-9279-22e095618cb0 phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11849445 uuid:96a806da-8fc8-4ab6-afad-33f898e5114e phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11849445 uuid:5c206481-8f48-4690-8afe-61f098620462 phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11849445 uuid:c6214451-fec9-405f-8484-8bc15631d8e8 phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11849445 uuid:5318df68-4f53-471b-8928-63283693242c phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11849445 uuid:1a061a46-e462-491a-adce-61e33e8182f1 phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11849445 uuid:a6ab166e-2493-434f-9c30-05efcadcae95 phenopacket.store:LYZ.PMID_11849445_Proband biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11849445 uuid:99c64830-e3ef-4b83-86ad-5081b4c1ea11 phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_phenotype HP:0011034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12360495 uuid:b0593132-fe54-4cdf-b01b-f6c5224547e6 phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12360495 uuid:e5c83c24-6e8a-4dc0-9b51-52f3228d542d phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_phenotype HP:0010637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12360495 uuid:17fe8aa8-d863-439c-af80-b85ea047f436 phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12360495 uuid:8ef15ee3-94ee-4fba-8d24-e9a334715712 phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12360495 uuid:a43eca7e-7d16-4396-8894-d5e42cb08e3e phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12360495 uuid:1c91e5b2-4ffe-4767-8a56-5e8aed38cbc5 phenopacket.store:LYZ.PMID_12360495_Case_report biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12360495 uuid:1baa3e9a-c93b-48b1-bec0-7527a847363f phenopacket.store:LYZ.PMID_10534505_III7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:c4df62e2-9095-4de6-ad80-499864ae37f8 phenopacket.store:LYZ.PMID_10534505_III7 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:f851d9d9-b6e1-43dd-9cfe-f6084925248a phenopacket.store:LYZ.PMID_10534505_III7 biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10534505 uuid:70c905fb-f8aa-4b38-abf2-cd70e082a468 phenopacket.store:LYZ.PMID_10534505_III7 biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10534505 uuid:c1e521b8-982d-4b16-ad4a-534fdb69990c phenopacket.store:LYZ.PMID_12675840_daughter_III_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:12675840 uuid:44d0bc62-6613-4bac-a687-0a7c4322586b phenopacket.store:LYZ.PMID_12675840_daughter_III_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:12675840 uuid:9c6864e4-c420-456d-8f7e-86bd5cbbb560 phenopacket.store:LYZ.PMID_12675840_daughter_III_2 biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12675840 uuid:0bea8dae-72fb-425c-b305-28fc4d4c562d phenopacket.store:LYZ.PMID_12675840_daughter_III_2 biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:12675840 uuid:450e7030-d594-41ba-8c99-ef955fd00460 phenopacket.store:LYZ.PMID_12675840_daughter_III_2 biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12675840 uuid:5491f812-1318-4d0d-92f3-fd4bb454f010 phenopacket.store:LYZ.PMID_12675840_daughter_II_2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12675840 uuid:19154b7a-55b7-490f-841d-7e4ad25a45ac phenopacket.store:LYZ.PMID_12675840_daughter_II_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12675840 uuid:b723199e-7632-4487-97e3-e0cf73b9bcc9 phenopacket.store:LYZ.PMID_12675840_daughter_II_2 biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:12675840 uuid:20e60cb1-cbdd-4513-a595-d9871c53c01b phenopacket.store:LYZ.PMID_12675840_daughter_II_2 biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12675840 uuid:e534b297-a3b7-42f7-8c72-ac5fc48a7e7f phenopacket.store:LYZ.PMID_10534505_proband biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:c6a88c7a-2a80-4780-9656-79441a65a170 phenopacket.store:LYZ.PMID_10534505_proband biolink:has_phenotype HP:0012280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:0b2d4330-a802-422f-80dc-06512773e103 phenopacket.store:LYZ.PMID_10534505_proband biolink:has_phenotype HP:0001917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10534505 uuid:07ca6a32-0e9d-44c3-b2af-328d83d67004 phenopacket.store:LYZ.PMID_10534505_proband biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10534505 uuid:580b433f-9009-4ef4-b75a-f5aea8960166 phenopacket.store:LYZ.PMID_10534505_proband biolink:has_disease OMIM:620658 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10534505 uuid:e7643da0-68ea-4e33-a27d-24811078fb4e phenopacket.store:LYZ.PMID_10534505_proband biolink:has_gene HGNC:6740 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10534505 uuid:6b0351f7-6d2c-4a8a-a99c-8b9b9a20c616 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ba55d800-0abb-42bd-985f-0f3fa8fe2a1a phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0b60fc23-4808-4580-878b-99be02c1c7de phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:513bdcf3-91e1-4068-97c0-498e89854a21 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:5e374ae6-10b3-4822-a2b2-161e87ce9579 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8af95f69-704b-4878-9a99-32e0de25a3cb phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:1cbee448-b495-4cc6-acfc-dfcd2a46b495 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4a7b5882-e8dd-4b83-b461-63ad42b5429a phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8cdb0d90-604f-48e7-96d9-ea2ec07e180a phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2cc30418-3bd4-4ad8-ad14-ecc43a22d54b phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f6bcc8de-aa0e-4b24-9c25-33c37b8b5fb9 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:721c19f6-9602-4b04-b78e-c4d2b806f852 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:33517998-4c36-43f3-9a2d-13e71b826f4d phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:43d0e55d-0499-42a3-8be1-c1c2eca30f86 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:534e71d3-0556-4361-9338-95b0df01e3a1 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e3c5afea-4a6c-4eeb-aac6-8c206e152cee phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c1ba5c7e-496d-4e44-9810-34c998f97bec phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ba49ada1-f067-40f7-b140-c7bb9c51160c phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7127144c-ae57-42f2-98a6-a83137faf9bc phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:0a35062f-8b23-4a4e-968f-3b3711e7fc27 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6ae34fb9-9836-4eae-8851-fe08a508d71f phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:53e42321-e4df-4f7e-92d4-87c3eba5a3f6 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2126322a-9c8a-4f5b-be03-e3d091269414 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c72a93fd-c53c-4553-b32c-a78b321f3b0a phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ff3d8cf6-8dd7-4c03-a03b-ea6002c52702 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a79d346a-2860-4d18-b710-293e41ee90c8 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2ca4112a-8aaa-4971-9e4e-6ccddb5ab874 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2b67e964-44de-4789-9022-729ef0428dce phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fb5a6879-6cb3-496e-a322-09f77a493fd6 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:be5a94d4-ab88-44a4-b2a0-3f9620e2add2 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6fe78145-141a-4a7c-9326-98629c1c8e15 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c5ca0302-085e-46c3-8103-c1374672282c phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a7a1eacd-1b5f-4480-b387-920eba2350b9 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c7386f53-8bcc-45a8-b989-58174d551d67 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:73d864db-2654-4948-8710-247413b034a7 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:12350f72-3ec3-4ae7-8429-eb79e2b2df0d phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e4bac770-b65e-49d8-ae4d-b86116c1c92e phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:583b76fd-7518-4bd4-a6ec-bd5437e6556a phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:32413d5f-7245-4eaf-a459-9893f89f7c5c phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:e964ee9a-f189-410f-8c82-6e7015b494a2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:70c72bb5-a62b-4925-950a-4f789683c0a7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2ee3f813-d2f7-4adc-beed-02e481eee4d1 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:078614ba-d0b9-4739-8955-f2126aea83e7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:eef6992a-db7d-46b5-914e-dca7eb1b8836 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:76063d0d-c7cf-4d5f-b935-29f14f6b062d phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2566e245-51a4-41a5-86b4-d8f2b46c342f phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9455cde2-5858-422d-b464-688b0eebca2e phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:218d6674-cc56-4b5b-8aba-044b58bc6e6b phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:aa2f00a8-906d-4e85-bef6-bdf5acc99f42 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e5615f8c-0e51-436f-b8dc-b17ef05f301b phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:1e23915a-0395-4753-80e5-0f07f0cf1db1 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a5274064-2e84-46ba-8bec-7cfc5a7790d1 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:133560c0-6734-4440-affd-b991f5e6dbba phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2257bd12-4157-4eed-9b83-454a0032b8f4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7156971c-d928-4e9c-a91f-07c57849bb35 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:c53d69f3-9189-41b3-b18e-64bc153febd3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:817d0802-4993-4c7f-8872-229f065b44e3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ad80ff23-6dcf-489b-958a-96958a9048d2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:43a84772-5cee-4ecb-8744-5ea6c0c6beb1 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e6d2841f-6eaa-4f4a-8b40-c43b6cf6efda phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:683ec345-acf3-4683-91b0-25b723c7507e phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0d64d2c9-fb6a-40a1-98c2-badc048e7c6d phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2cc1172e-cc55-42fd-934c-137c9f8cdbcb phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:c5d87916-b31d-47b3-aaa9-74e3d3d02c10 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e6e265eb-4aba-49c9-93da-145bff98f621 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:229cbc4d-b371-497b-9adf-c9dc4827b91e phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:be2cff5a-c5cc-4739-8412-3d8e6663a509 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a06cd090-a39e-475e-a64b-4f64fc996284 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:46fd9c66-0ef1-4281-9f77-85d0b3431d28 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:fe86c03e-3a65-4ea5-b648-cddbdd7f681c phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ae1da0c5-6c00-4d29-b84b-181abd1fdd29 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0025676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:34c1f837-db89-41c2-85c4-e9c384bb1a1d phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:80c3d2d7-2b16-4cee-8a7b-db3809f3509a phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:82eaa6eb-bff3-48ef-8fc0-c462a46b5c21 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:4826069e-3ff6-4e9a-acbe-44e89f32dc62 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0d54fa59-5508-497b-858a-bd864b3ac1ea phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2a07536c-58dc-444e-be02-895354b30bf7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:dd8dab6a-bb3f-4b97-944b-33dc6a40b604 phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:15545657-f999-4eeb-b69c-bc23add6781d phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38982897 uuid:3f889e25-1380-4345-b9e1-d2d1e006acfc phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38982897 uuid:acb4077b-683c-4c9a-9144-52065b9a597c phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38982897 uuid:2ad977a2-7fff-4034-985a-3885e2f0332b phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:fdc637b6-d19e-4bfa-a3ab-a8aa1398388e phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:182ad81c-eaa2-4bc0-ba1c-ffffd7bb63c3 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:1abbffba-5491-4066-8f91-66968df83d46 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:22cc676d-595c-4f2c-8f5b-3da2cdce6f89 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:6e9f4768-9785-49de-b9a1-55ee8e8f5f22 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:043fc4fb-bcd9-4d1e-9499-84e19c650777 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:3d5a3f95-b2a5-41d0-a4e6-0d2f71741894 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:84ebfbc0-4495-4499-a791-663f22ff650c phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:3508fd83-d9c5-4ce8-b436-f750d65ba4fd phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38982897 uuid:872f7d0b-bf04-4804-92b0-238368ed9fa1 phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:38982897 uuid:b30dd23d-295e-464a-bd81-e0ac4edbd91b phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38982897 uuid:96bf8eac-eb0d-4f88-a9d4-74c27659bd36 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29469822 uuid:218c2ccd-e55b-4482-b981-b810adff9e8e phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d50c1baa-aa05-48a8-8948-cc84a98af79c phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d46b47f5-e01d-48f5-b652-94065a758a9a phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:89a58b0e-e71a-46e8-844a-a29b58b35628 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b77e8fd7-849f-4588-a927-dbe482d31c93 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ddd97d8c-b870-46ac-a6f9-a5b7d37d2f4a phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c10c925d-1079-4cba-ae98-0ed07d668f25 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:cdc72741-47bc-43ee-a0bb-366689b33ed4 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:3288c39c-8292-4bd4-b831-120f10afb4f4 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e59660df-5738-45cf-b216-a29410bb7490 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c429cdd8-9b32-4afa-a3d5-34ac236f63db phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e26edeb7-2577-4d56-bfed-6619ca731b95 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f11e64f4-f934-4346-90f8-d6a6e41c5b54 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3a1dd07e-a26f-45a9-bfca-104cf6867983 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d079c791-4358-458e-9322-936fc74f37aa phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c5597952-f8d5-4f82-8941-25579f784131 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:22acac12-a7b2-4bdd-99fd-fd97905fb9f9 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c44fb9a5-afe8-49c3-a486-e76fa3aded84 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ac570d61-33e6-4ee5-abb4-210bf2d7db51 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b664dc5d-b5d0-4e7c-8ee5-f9b5cb114ea2 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ff5f1094-2caf-441c-b71f-c25eefbc5852 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:17e646eb-000e-49f8-b4fe-5fe65716a265 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c7a87eca-c8b5-436f-988a-57296b3372c0 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b6643dd2-7c14-4987-bf02-a2f766c80863 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:79f0e6e8-0cc3-4dff-8855-9a9e358c039f phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c98d1e77-7905-4c25-a4ee-80be4146cfb1 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:62df94d9-3a59-44b2-8080-1f21f9d4272d phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:10683258-3e00-4580-a90a-4a0d73dec006 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:944ca491-1722-4d0c-882f-a1acac280a89 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6025e6d8-ff9e-44f0-8e5c-19e2e4f2a2be phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ea29d354-a736-4497-ae0b-c22ddd29d84d phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ff2ee544-2fbf-4adc-ad36-4f46844f8eaf phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e0a78a86-5ab7-43f7-a5d5-88ebf2a1f56b phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b7ed99a5-df8e-4cc9-86da-802e1fdb4ad4 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:57391355-b646-43db-a6c0-f7093466d8ce phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c6bed650-6d31-4fbc-8a9b-efaf429a925f phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a93e719a-894c-4bb6-9c39-2f81789cea2e phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2b4af11c-ee20-4722-bb00-a39e62674bfb phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:df74ad29-a62b-4c99-abbf-edd74036ac28 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:afc02fde-e644-497b-b405-3c781e2d2425 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f84cb1d7-a3fa-42e4-a8b0-5b6ebc64f6d2 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:fc8d386a-da86-47bb-8e8d-6b5d4166c1d6 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4653922b-73a4-42b9-a1e9-cf7a58fde43d phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:6b2510ad-f64c-4484-b8e2-06af3db21313 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4f674805-8ec5-46d1-a030-be078674dac7 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a90dc448-4dd5-420d-a70f-841d0910c7c7 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:96211dba-ee77-434c-be48-69316fc86092 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0fd23ba7-367d-4167-9d60-88ec66d54d4d phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:bbb6794c-4046-4926-a013-c5522effabe3 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b2254561-677e-4ee0-9a80-3a354c3fa1ac phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ce83ef20-0d1a-4c01-b0e2-db46c8966728 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:3c93faa7-c43d-404c-91a1-ac7d39460aeb phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:17ec5cc2-4ad3-4b5c-92c5-94ec02d5ecef phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:549454e3-a547-4b8b-b920-9ee53be19a28 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f1d2431b-f47c-42bb-83c1-6f4be3484eb6 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:25b46b5e-0930-4c4b-8c76-2e5640bf7be1 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4636ef08-e1c7-4075-8998-07b7b15ac526 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:87e728f4-5d5f-47f7-9265-3ec36174fb54 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a59a5a4d-3048-4116-a68c-6899c74ebba5 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e2ab0290-8e5e-42ce-a5bd-aa33d374f4c8 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:04bf9b81-16c8-4289-98a8-c354e1736f9b phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b8f4f0a7-e0e2-4da1-8adf-bfa1694946b7 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4c470dbf-a5af-4906-ad54-35c4b486432f phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fe663542-bfc4-4ed1-b27a-e4b6b2667af9 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2f0e63e0-12de-4780-8c59-f89548032760 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:db688fb3-d9ae-446e-8a81-5896d2c1e798 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:75936716-0cec-4a4a-b22b-1020c43c5d17 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9437ff63-718d-4e41-9985-d2d8c8c45526 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f8e2bf48-8272-48f8-920a-b8bdc0341fda phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b53ffc0e-4c36-4610-acbe-84592351bf15 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5bed305d-4202-43a0-90e9-0f3b8ae12dc5 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ba28ead3-f671-441d-ad84-b8f5e6fc3d14 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:10398cac-e025-4da1-a1d0-31674e76cdc8 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:60bd5af1-b458-4d5f-845a-b5ba14d67df4 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9b3ef7fc-1ad6-4fca-a5e4-c7c408e5aadc phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:548f095d-77f4-4483-a6d3-9c8a02f6c03c phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:89b68d2f-14f8-42f5-a8ad-2a0950c6f06e phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:07c7e8e9-9eed-485f-ac10-3869eaa77659 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ec2b7108-6fb3-4a4e-8d52-befeb1e2c3e2 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c2230375-0093-4e82-97aa-5e3463367fd6 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:0af1dca8-8c80-4f7a-85b8-0422e7f6ddf8 phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:d59a2223-7554-4229-b9f1-a3dddde9560a phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a9b1e37a-e247-447f-829e-f8c71f8be001 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:791e4c48-820b-4171-b058-3fe1ca03d131 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:dc7d69d9-fc95-4314-b33b-c200fe3aeb74 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a7244650-d4c4-4d9d-8c94-382267fa16a9 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f98c75e8-d310-45ec-84eb-9ef9bdc8db61 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0ea9fa5c-8414-4f1a-adb0-8fcfdeec97ef phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:6536b032-44cd-43d6-9cdf-6f868eec2c10 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2416319d-6174-4a6c-9ceb-13ac95d5caa1 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c9da455e-2fa6-4dcc-bf82-0cdb6191305e phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8c4c2220-ec50-4b56-9b58-dfd0330a7c6f phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c00af786-56c0-4109-b2a4-151e39fca9a0 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0b2d3e14-c01f-4fac-b812-510f8f9bfc98 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:704e73ab-b297-49a0-9e3f-326b2bf19d4c phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2bc27496-6a59-4b8c-b55d-5bb6edb9b315 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:41963f28-fed4-4ff5-94c6-8b03ed1cd01a phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8430487a-46e0-4097-ba88-d6fa452e4fd1 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4b85998d-1f05-4712-98a5-7c859ffa38da phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:12abc58d-b5f0-444a-84dc-0940fcdf1920 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9a5a3369-5842-4c78-967f-1baac56fe378 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:67079aa8-f074-445c-841b-d2234a117815 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5abfd612-b71a-48ad-bb15-65097bd4ff6d phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1d8f5162-04f9-4488-b0a3-197f4a2ea128 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:0a5c74da-de9e-484e-9c62-19886ba17d0e phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6a348733-81de-4162-a876-54a4356471b4 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:aa3ab844-5033-4faf-aa98-0b6594cfdb26 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f71dfd47-e6c3-4b64-a1db-9937c9828465 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2215b503-bf3a-418a-9e21-a9a89905f740 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:69265c97-9dd8-4de2-8094-b20f5694b899 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9ecdea32-1be1-4e97-8c50-3ecb5cb14f2b phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:da51dc4d-d3f6-43a5-a4ea-f401f46134d3 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:dd1ea67d-15ad-4556-9d84-4ea2dcbcc206 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cfc5b545-7e11-4239-9d98-70c2cc60e0cb phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:839ad951-30e8-44e0-b322-4d0cd37c2952 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fea1f419-30b5-4239-8bd0-19ae6bfe5f28 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:233d6b1e-af95-46eb-95be-765393569012 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:91738bf4-d199-4479-aa51-20de89034044 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1417dc5a-cf25-416d-b258-d6ed494e7e95 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:04976b8f-debb-4701-8aa7-8c4002df9530 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8995322a-37aa-4bd9-8a7f-34c1691646a9 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:32bdd1d6-2f24-466d-b810-7e5026c10db3 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:fcdbc539-5836-48d0-b521-e0fa03768c10 phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:8a5484cc-b570-4776-9135-4e78f4d90c41 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:29469822 uuid:6ae1a059-02a5-4781-b1ae-4eebb471f777 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:29469822 uuid:5414f288-3d9a-466f-acce-2e08cb6c618b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:29469822 uuid:2279dcb6-ceaf-450a-bc18-76af93acf902 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:29469822 uuid:6cad1f6a-8db3-4512-832f-2290d5e8bfea phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:29469822 uuid:4ecdddf2-96d7-4f26-bc87-d9d560b40613 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:29469822 uuid:78ac3ee8-e516-4354-befc-c557d338d0d1 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:55e6ae05-1bb8-4dd0-80e5-ceaff90732f4 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:615db292-aba8-4a47-b9a4-ac0c830bafed phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d56922f4-be5d-4dd9-b69a-596cf5d6f151 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d3127648-cc2c-4a41-b7d6-60f4275f1913 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:03505b1e-2c23-4ded-b0a2-46a71e8bce23 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:666e2662-8df8-4f5a-a6af-c045f4588fd1 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:bb1d3751-51ad-4ce5-ad77-683495e2caf4 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:295262dc-92ec-4446-9065-d1037a7fa6d5 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:cbf5934a-7d58-471f-b2e2-3ca625cf2b32 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0a7f637a-b069-4672-a08b-d8ed54dd19c7 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f0c495f1-39bb-4723-a4fe-b1c01909ac8c phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e7f56203-89cc-4183-ab31-d8dcaa3916ae phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:86376257-f138-4dea-8bf1-7eb70c77e0fb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:620f9bf3-aece-49f0-badf-7e8430b47a01 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:11bb1800-f97c-4947-9998-037ca279d75c phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:39380ca7-d454-4c9d-a06b-1e59894aefa4 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ad0fb9f2-f988-4659-a51e-2e6fb435ce43 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:445070d1-83c5-4759-b4c1-bfa234a90dfb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:54ed7077-9b1e-40a9-9436-baa7ba11b6ca phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:357ec7a5-9667-479b-928f-fce61b74b214 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:945218ee-8d04-45da-8ee7-f2d9ded52a22 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a2ada5f0-0e68-4c7f-b66d-b414b35d41e6 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:24914915-329b-4900-9785-6ecf3a662893 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:87cb8338-9327-4c3b-810e-3da68bb7e805 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7b63ba7c-2378-477c-8c00-6823748c39f2 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:29d92488-d825-4ec0-9c4d-d57136b8d19e phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:00af3c01-c119-4403-bb66-fada7e5ac82d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:273ade52-9605-4ba2-b16e-86fe82bf17bc phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:75f0cd94-b573-4ec3-aa24-4a7726982b88 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:594a3bfb-ca03-4767-9bd4-594256222406 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3c938c5d-83ac-4360-907e-2ddfd6ae87bb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8aa446b2-bb97-460f-8e03-a6e35062a27e phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:91626605-60ee-4b71-a00d-c7addc39ba45 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:53bf5513-9ece-4a67-a1a3-48a186edf947 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:1ab2c536-94fc-4157-af3e-50b789095229 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:263012af-5206-49aa-8d25-42d139c808b4 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:761f4d95-f8ed-4bda-a485-71378f8cc05f phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f4f801f2-3516-4844-b6b2-e6b8d679c06a phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:6dd52ea8-6215-451d-90f6-14742d4a0207 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5f6455f8-fbed-4de4-8b2c-417357cd4db9 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5d78d6a6-1c31-463f-ae7f-1bbac170fde8 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:fe488c2f-7ac2-4c11-805f-0359b440a77c phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:15dc3f5e-fa77-4a82-96f7-5aa12fec2a9c phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:645240fd-cf71-409f-944c-7f82aa5e1a5a phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:a08f3811-8d27-4a26-a45b-4ed74de044f0 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d5f7cd8f-1300-4efa-8d9d-4afa012c938d phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:ecf42fdb-2ca5-47f0-ad3a-73e0be09599c phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d425917d-4ad1-448b-9a5b-aeb2805ec362 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:89071d4b-c5ce-41d7-adfb-1d76c7348770 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:e27d8cc5-f9de-4dcc-9a1d-778b2db38c75 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f4aacd03-bad2-4e0e-90ec-b325a433c9f1 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:3db29013-147c-495d-8ea4-6a2a62d81632 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:2af316b7-88e6-45d1-94fb-d97db036cda9 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:c8e24e7d-e551-4902-bad7-d981a393d6cd phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:1edfe5f4-0d1a-4ed8-b4bb-78714f96362f phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:46700977-8e0b-46e0-a498-d8fcad255c8d phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:9310f124-e624-4700-a5d2-63cc93efcb46 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:1d274ffc-d29d-4401-b7bc-67a6efd95ecc phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:ffa2e130-5da3-41cb-98e9-25c0bcd9776a phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:a08abeec-311c-4144-aa17-04e5f3f646a5 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:33b4c418-d138-4cf7-83c8-07d54baf224e phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:17f993f1-3e52-4528-9235-dfd637f4a011 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b6f9af41-a52e-4d35-b650-f02bde6303e1 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:268d082c-b2b5-4bd2-be7a-60057b999b7c phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0e70c0c5-1a10-404a-97a5-50f8161df402 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:eeded05b-ad50-427c-8546-bbbaca07dabf phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4f5bf83b-485c-4f55-9c5f-1e4942962a77 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:16bce90a-536c-4413-98a9-6d860c6f1be9 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d88c4d07-458b-4ef8-95fe-f54439090102 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:30e48cea-2f67-47e5-a2e9-779f783953fe phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f455baa1-6e6b-4b7a-8529-961a1473ad89 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f0c0df33-89e9-420b-922e-06b0b3f09029 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3277a0fd-2e5b-4a67-9859-227dc72d09ca phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:babf1885-dd5e-48de-ba80-0922bf679a7b phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a0e40655-06fc-4e5b-8225-89992d6bcda6 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4b6e4186-0e21-4ed3-b370-6c17aad0dd25 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3e43d2ff-580c-4ac3-b3ef-4050a4d5d652 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:adeb7188-1486-4623-b2b8-5a60399a1eac phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:de4fbe0a-35e7-4b0d-a36a-eefe54da67b1 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:82ed3dd0-becd-4c59-905d-63f2339857c0 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:343da27f-401b-4ace-8e62-44f4e8c5e52a phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f258687c-dbd3-49bf-94b6-8fb4bdd6ba61 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ac7775b1-8f23-4337-b5bb-6367aeb3e05f phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ac2ee59a-8632-4d39-a1fe-9258d870e96f phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:529eaebb-2104-4700-814f-28974ee5e498 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e196a6df-5657-45c5-beee-59ddd6cb2157 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c8c06556-6e4f-43af-92f2-e15a29dd7ed4 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a290959c-01da-4548-98b6-54103b2a5ba1 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:9ebd47a4-9689-4def-935f-18f15f7a33de phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d611ce5d-4754-418f-b095-94b99d998830 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4a5bd630-2010-4f1b-9d28-8db723ae46ba phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d1d9fd15-c138-4805-988f-63c5792b19da phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:2e9160ae-f236-4dee-be07-25095f8d9dd7 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:25526a9b-0758-473c-967f-e9ec2528b54d phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:73ad496d-2f0c-47a5-81ff-121998352e62 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d94e1f4b-4680-4c0e-97fe-698bb70bbdc0 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b8c4db42-09b4-413d-bcf9-0d00ab0c8ad4 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:88668494-37e8-483a-8d68-57c6979bc949 phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:65bfd03e-8ad3-4b95-9ef0-afbd78f8995f phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:77308293-ed97-4ed1-807c-ccc7b09988df phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:874771e8-713c-428b-8e00-e57273c3466f phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a429b694-1b81-4d03-803b-028fcea1c329 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:08a0b4ce-a3eb-45e8-9d99-3abe373035e9 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:754df1f3-ed9d-4b55-838d-ec06f6bb8c92 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2fcc6b1b-35a8-4023-bafd-fafc69e86543 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:58b70cd9-a3a3-4f38-8bb3-54bf634316a2 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a0fe45d8-c284-43df-a6a7-49bdff268d84 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f03003bc-e3ef-4ec0-ba4d-4d6f0d4eed98 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a25d0a3a-bd86-482c-9d8a-b270bc517e76 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:696652b7-ef45-4358-91b9-f01bc1c77ade phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:769cd9ac-751c-4d95-aa49-e4b2b52ffd76 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:eb98fbfb-4973-4313-b308-0c01c6e13e03 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b726c6de-3288-489b-a734-6e45a66a599f phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:24c3215b-9e32-425d-926c-405d51e9b312 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c062c70a-270d-4a2b-9b64-014e343b1192 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:79a41a6a-65d7-4378-bf01-b3b97b386288 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:708f9528-e254-4631-b5b5-9204b0a53c58 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:48984fd4-e431-4d76-80e3-6e412c504e40 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7feabf47-c7c1-40a3-a970-bdb95d3aac8a phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:396c5aa7-f64f-4615-a11b-58b872b979c1 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:31d4ba3f-0f42-4b44-94ff-343253d6eb32 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ea3e48bf-cbc0-494a-a8a6-951100b4538e phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:16751062-0f8a-4afd-93c0-a6a80a627c88 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4ea0f619-ae53-46c5-ae3b-12ccb056a045 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:dd5dccff-6a94-4ef2-a96d-c6795f492b29 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5ddfa4c8-5e02-487d-b691-1d3dca7182e2 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:98eddce1-e3e6-4812-8858-a89e72d71daa phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:264204f3-5354-442d-8e23-5ec5e4a322b8 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d5b82bc9-2b9e-4248-b085-77e57c74cd57 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fdc4b9b4-8665-4662-a7c1-e284cfa24bd3 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4efc181c-4cbd-4789-8f03-0ff07f1b9812 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9dc154cd-5944-4d6b-a44d-4b3bdce3c80b phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:53b74b62-b1ce-4907-83f9-5f6bf172942e phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:8c4562a4-66fd-44ab-b4d3-0e10bfe941e9 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:f8ad0f3e-e5c8-4e5b-ad6d-d53821740b75 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:102adc85-031c-401b-865c-9055847c7b84 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:fe128e46-e83b-4d51-bed6-2df87c88c0a3 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:b57ce58d-9a0a-4dcf-9162-949bea552873 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:2436bf77-5d37-41ee-8723-c942ec05e1a1 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:82b6b0ca-465a-4df6-a7e1-5ac9c1126292 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:fb3cb8d7-4656-4dff-bd7a-4f6b6f7840ca phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:2a141886-2b3a-4e83-a900-29afac6f28cf phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:c5487ecc-edf7-4533-b70f-c69bf521756d phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:1e4b88bf-e59b-48a8-8da2-4e516c3702d6 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:651c06b6-9f7a-497b-9689-578109dbd7c4 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:e43b445b-67f7-42bf-adcc-b1da6e45bcbe phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:48c93f6e-2292-4514-9afe-e5f378252e20 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:9bcafafa-81d9-453f-8ec6-ada152155538 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:42afe4d8-794d-451c-9d1d-00aa9063b32d phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:3ccea39d-1f1d-4344-a89b-58d81dead4e3 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e3c2b72e-8878-45eb-a70f-79fc7676a021 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:5d72d8ab-516f-4d95-8b88-a27dd612f6ce phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:9e1f4736-9f3d-4461-9e33-9b624d2f2b3d phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:be74e120-1ba1-4f88-bc3e-9c1f0af3b6bc phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:829e6800-8b7b-409e-bed3-6a3851f9478f phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:da2eae02-677c-4faf-9d2b-0dd028221668 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:20ef8612-2b4f-49c2-8c6a-9299bfedd18d phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:2e9f152f-f43a-4b26-852a-f8870422845a phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ffb4db10-fde4-4835-bcfd-719fd9746f98 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b5ce8f46-2a79-4ee3-82e2-7dee096965ae phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b3f549bb-3055-4e8f-b852-c765b43cf942 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:cf8c6ad6-932d-481d-b736-540293faa96a phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4a3082f5-ddbf-49e7-a172-a6948790874b phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a4422211-3651-4204-b1d1-00037b75a26f phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:6ea65b71-a6b7-4ac3-8737-4f3f803ab40b phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1f778a44-0f75-47ff-b9cb-6ed433fd400c phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ea8acce6-d524-4045-bf0e-0bcda9a8eea2 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:da1ea62c-96f2-41e0-8333-4c85acd2e17d phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:cc4a1064-48b4-44ae-bfc7-1bb5f6d1c8cb phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b657da7a-99c2-475e-a347-398314f54ee2 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f02eb99b-7226-4170-86d6-576fb21d28de phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:10577aa2-9048-461a-86cd-b5c91eac6f75 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:510ab936-bc87-44c7-bc5b-4fa542cc4a07 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0d4aebf3-936b-4695-8622-97e696bd4d18 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ea461028-93fd-4fde-90ad-313e7def41ee phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:470e0143-502b-49fa-aa68-4966f4a434cc phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0bcd020c-15c0-4e72-9c55-944b626ad262 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:8f005bc9-0759-42a5-919c-775c006d9f18 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:6854aee6-4247-4486-b1d1-6551bcb2a6c2 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:85e6cf42-70c5-4386-98b6-aa70b520c7d4 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:8653e754-57d1-4ee1-b567-0db015b479c4 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:eb46c548-8fa1-40cf-a74c-339a73cf7818 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:288c15cd-3d45-4cad-93ed-243f70fbfd72 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e81ac2d0-2202-4777-9b2b-e1b046d3bfa1 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:7eafde27-765b-4b5a-a1c3-beff849d0ba9 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b6f84b05-c165-4ae9-b154-192b6222fa6f phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:656bcdac-7ea0-4d6f-8fb2-b1525deeeeae phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:bb4c04da-56d1-4177-82a9-807b1ddae707 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:92f20071-afdd-4066-a0cb-6d45152c8742 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:852d556f-38e7-46fb-a0cb-89412d882be4 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:98d3e736-2cf1-4475-84cb-b7495eb6712a phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a59f626a-9dee-413d-9e29-86f4ee3f4e53 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:326310cf-2761-474e-9ed0-0c2e05dc09b8 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e2dba8ee-7181-4e6e-84c7-2ac683ed80bc phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e06ee26d-4418-48f0-8397-09ff5876a46b phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:370351dc-fa57-48f7-9b3d-dfae5e41b460 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b24f9678-87a1-4eb4-b36c-4cec69a8bbb5 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:204b140c-0c96-45f1-8062-6510f6c65301 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f840063b-e8c2-44af-a890-477f157e2703 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:47e3054f-e373-45d3-b512-ed03cb8a5fec phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:de057435-ec28-41ae-8875-dc96bf23967d phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d51c5f68-2f77-4ad6-ae8a-4e4fe7f7cb27 phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:d6a864aa-4db8-4c8a-ad2f-6f0f68ed4b0b phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:d01df65c-cc86-416d-8aa9-f36d00c1aa7f phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:5b375070-c074-43e8-b17b-81e768b26225 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:6e46120e-6ce3-4e93-ba12-1e169dc22a00 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:dc53634c-fdbb-4328-9a24-a1328646221d phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:27ba6ae1-c793-4220-a58c-262482ef95ee phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:9e3576fe-07e8-4423-90e8-3ff45bc645e9 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:68835ed1-479f-4f63-8050-5f9783961cd9 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:f3c32afc-45fe-416b-a61e-220469d2e7cb phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:43a44fee-5507-4b72-86f1-ee829950197f phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:c19f6fd2-bc22-446e-919c-d50c90c3e7ea phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:49bc4f3f-30f6-47d1-b6d1-01eb18b7d503 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:061dcd5f-e1af-43bc-a20c-6cde4745daff phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:d794ed2d-c282-4e81-82e3-edc3abc7ae12 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:6b360293-87f7-46b1-8d01-cc5794bfeaf5 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:d787b6e2-5400-43b8-a1c9-58b7e4fad1e2 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2857a17b-3b07-48c0-a498-89068d54ac5c phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7ae65044-23be-447f-ad81-81ef998659cb phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:acd3f5f1-8b8a-484c-9497-6afa6b9ee8bd phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:cc87c9d4-21e7-412d-8337-9688a6308a78 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a27ea155-b585-4784-9053-085d7853f235 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ee4ebf9c-2a26-4eba-9c2f-c9a68685e01b phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:33b1fae2-25bd-4c87-8816-01eb13380a69 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:93ac6e45-e0ed-43a7-bfb0-7bc90e0d0563 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:76d19c4b-c5f3-4e61-b5f8-48ee2920e635 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:16e19735-cab6-460a-b3a8-4d47111c0504 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9cc3b9ec-dacd-4d62-ae75-691be8b4b23d phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:957873b9-bbf2-4e57-9ee8-5b3e5418a7f4 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ad45b0bb-8988-4466-b9ed-c7c7cc353ffe phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:1a376483-e9a7-4b21-9c8f-4cdd111bfd4c phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e307c525-493b-4191-9547-95340a32640d phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ea999a29-3db6-4eb0-b2b1-8b89ec87a358 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:1c56d41d-b834-4c7f-91be-b4116fe4a953 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a3de14bc-4ef1-4a15-bf93-90d004b6d6e9 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:3dcd77ef-6506-4ec0-a659-5f1dec2325ed phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0bd0cc05-8878-4ed2-a1c7-fae567816ae0 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:87b1920f-213a-4c4f-b755-bc5db90f95c1 phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:6368c113-4faf-4899-923e-674ea924c0e5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0025676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:b284d03e-4774-46ee-8117-186ebdb18f96 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:d7f868d6-4e73-4200-8e4e-bac62d49da23 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:21512e2b-39d0-45f1-9c0c-7c25dcd0caf2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:68f0ca47-0370-4afa-8874-f45d9e5aa64b phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2d1eae5b-5892-472d-93db-f0b8eb224497 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:911ad943-a29d-48e3-82cb-de3ba7ec0922 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:95ed05ed-1356-47f3-b17f-0b063f5f3e95 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:7439c1ba-df29-46b9-a165-bef05b0d7b40 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:1824ba96-1f34-4eb1-9be2-274c4e6f3c0f phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:f9cc4d60-1399-4dad-ab90-48c0c3ab0fe1 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:c0f892bc-c4fd-4d62-ac73-66c8549f9d01 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:c7f280c6-8df2-49dd-9ded-f7164cd1ef80 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:8724b5b8-0558-4cb6-9615-95087c07bf9b phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:7c012321-b102-4f38-89ba-af80904d0bae phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:aab7ee00-b412-4d87-900f-90f1a2cca6c7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:0a5e4fdb-13e4-499d-ab94-e7465acd738f phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:71b4dcbe-abbb-4581-ac07-ba46c9fb238f phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:069aaa5f-3272-4059-876e-25077390bc4c phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:db0d9086-cb2f-416f-83a7-698e7026c3e8 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:b0d9643d-fea5-4f59-92ef-990356b21146 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ad85f27a-b951-4ec4-9998-db1a51cc639e phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:f1f0eabc-1a98-4e96-a282-150abc02f229 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0b175243-b0c5-4e61-8362-a8bcb97e60fd phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:db7f6076-9c62-4da5-9ac1-df827e5ff417 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:fea064c7-fcfb-465b-b7b8-f9bc727cccd4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9036ea35-ca37-4554-b863-8f0c6a1702f8 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:faedd02f-05c0-4e5d-bd46-86409b26f484 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:f352e76a-ae09-4d50-8c50-603f2dcadd98 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:15fe6df5-1e01-497f-abe6-22c9c7c91836 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9f879999-55ca-45af-953c-4cf1b708e1f3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:cba86eee-6d61-41e1-b456-1c23672170ca phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:08d5ac6a-e6d6-4dfd-8cc1-8bff9b033778 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:8f924ce5-ddcf-41d2-9415-fb1a3baddc46 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0b562729-bc6d-45da-8f58-1273f5375b9d phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:45871cab-0cc6-4d8e-b401-95d6bc1e2452 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:5e3a698e-920f-4664-b073-69b6fc49d7f2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ec44ec23-a51e-46d6-a1db-618a3a212ca9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_phenotype HP:0001928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:c635bd43-dbdd-49d1-95c9-7c19e3f0a8f9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:5e443504-453a-46af-8dcf-46f54b6dad39 phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:6ccb2935-d500-46d1-8f07-baf103ace07e phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:8c6e8eac-1619-4207-b344-3ed66d3c75c0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2e38f195-a009-4d31-be70-c69e651e17c9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:f2fa1862-a242-4018-b68e-c0082fb0d398 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:5a7b0a48-59d5-4d05-81b0-a6c837f9c4bb phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:42ffca6d-33f3-4f0a-8f0c-f1d673441491 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:ec99f8cf-8e63-4865-b2eb-37705a4ba4b8 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:162bc515-d6b1-458b-853b-a59a360a47ec phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:d07121c9-3be9-4df7-b97c-29452cf2aab9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:cd8d4f16-72db-4659-a140-15094f5303fd phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:0296197e-74ab-4de9-83d2-77efbd3e3009 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:08f7b190-691c-4be9-a8d2-0ed8b4103b1c phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:f65bdcaf-b937-4221-b459-2760f2d63d25 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:5390819a-6394-4b30-be26-fa0d067c730c phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:501bd126-1d4f-400e-9a5d-7acde31e8e53 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:bb8f4a57-14de-4fdb-97be-4aed3c6d54a0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:952e22eb-1a91-4da3-937f-68fa8350f267 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:281435de-ad6e-4ee3-89ba-17539e9e36ce phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:4179a937-a0ca-4d44-af5a-5529a95c60ff phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:83f89bee-34d7-4b56-9dfb-63b9ea3a54b0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2886b07c-e9cd-4475-a55d-dad03a0e64c4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:46db531e-721b-4958-9952-acec5e343bbf phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2caf6e65-032a-4b75-9f58-dd8290d70960 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:fd562bae-5e1b-4b47-b4e7-50ce1dbd0682 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:74fd6071-2c50-4760-aa8e-675e19af99da phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:8a40029d-2685-4dcb-8259-fe1cc3b43d21 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:cb12a910-80fd-4055-bdbc-2a33654ffece phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7c45d74e-171d-450a-9233-7bafd2af57cd phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:8c4f9289-3861-4e46-a57b-6c60327d4de0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:1d97cf75-6742-4999-be7f-0cac446965d4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7631b93f-3cfe-4320-825c-c4c1b5165c41 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:85ea1c3c-4fe4-413d-9948-a483666c4f5e phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0025676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:8cb367c9-a883-489d-8682-147445aa5f74 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9250d938-f4f6-4bb6-9b6e-a27b0fba026c phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:6cd83537-939a-445c-b965-606f3bb38cf5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:37657279-06b0-49f9-aeb0-e6cf25bf2099 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7d30b40e-7d52-47c2-b6ed-e78961d6b49d phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_phenotype HP:0001928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:71c26757-4377-4846-ba31-24a1f185493c phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30368668 uuid:8b6f5f2a-2b80-4df5-9c1d-ba1eb19bc6a4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:7e4fcefd-ee78-4447-b6b2-8615ab624fca phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:441e4826-b148-4cdc-960b-abed2a690232 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4d666300-0b5c-45af-b45d-f7561b9c259d phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:47d761dc-8516-4e31-a523-b500b47fda06 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2482708f-41a8-469d-9d80-bbfc7c15edc7 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b6fd55ac-8dcd-4c17-afa1-97b06b8cb61d phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:9173938a-a87a-4b39-9d23-c17d88b3f9b5 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8864c192-8c7c-4223-becc-61e64ffaa75f phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2292a08c-396e-49f5-bead-941c5f2c383a phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:db9c302b-8b39-4dbc-a49f-c1248a914f21 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e78b432d-4caf-48ca-88a5-c5d2e4dfb9cd phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2c7f61a1-1de9-4b3a-9da1-66ed97dd6f98 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fe99dbbf-62c2-4172-b6f5-eb122e3ebc9a phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:03f45a7f-50c5-4348-9767-3c89405e5842 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5768e6c3-1f9f-4ec8-b5c7-579fdf6c89f9 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5c02fcf5-bd49-4c66-a19d-668834ebef21 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7b7ee0c1-4f05-473d-86fe-14639a425fa6 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:dca5f2f1-9e58-4b14-b6c2-916d345d7d22 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7d276f74-c570-458e-b53c-22cc7d4bf0ac phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:33ef7fc8-02bb-4109-b8ae-08b71adbfa0d phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9a494c20-ab2b-4e3a-8965-9f9829630952 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:27e07997-b3c0-405c-b017-3fb370134bb1 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4db1f0d8-9e22-4e10-99d5-f2e28d8f5e17 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:60738cec-d333-48f7-b268-1d918ae61935 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6b5b50c1-2a1e-4ef2-82df-d11d31badd9f phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3a34046d-b592-464f-9463-20c6fe9bc09e phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1e77e6a7-0e8c-4a32-a4a5-4c8fbd9a68cc phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cd732a7d-30e1-46bc-9923-65e708608b2a phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6244b854-b702-420e-b354-32fec970c40f phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5ca11f07-e00b-4724-acf2-eea4f64c498c phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:45f624f2-1249-4f2a-949e-dfe5bac4a8be phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b67fa55e-9fa9-41f4-bd5b-d5dee725bd68 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d255b98e-de61-4a27-baf5-0e318ff242b6 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:bd939a95-f08c-465e-854a-d6a03aadc330 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:2957aa81-a5f1-4d71-af1e-acd2b10292b7 phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:ee802b06-4e9e-4559-8da7-37ecbab627bc phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29469822 uuid:53c67391-5a7d-43f7-842d-1ac8e593fda3 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b3942fa1-e434-42ca-b306-af0775343e13 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:7bd4cfcb-d6e3-448f-af2a-2a71dee7152b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:16127e75-1a81-46d9-8a1c-24c373f870d9 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ea67d338-7473-4460-979e-cc6e0969ff8d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a52d7e7a-de96-448b-b984-fbc0f3a753c9 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a6cb9eca-9e21-4261-a02b-ea5d534a4cbb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:bcd704a2-282e-4781-9053-cd74c1893b57 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:5f268376-246f-4657-b3cd-a96ee0438719 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:72910634-adc0-4a31-9b95-66f78940c89d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:16e82980-a6a8-4022-a93a-c106f3009e60 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6e551b36-00c5-468e-9e50-97737594d6a9 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:31bded62-030c-4acb-9360-a8f398a62fa8 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ad377183-a5a0-41ee-aede-7a4dd993ec3b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:54b92e48-3b7d-4438-a831-baba94a5f642 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3edaff19-5aad-43f5-b0c9-33f5ad523089 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d04ee0ef-b2cb-494a-a91e-ad203326fb52 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8d6a16b1-7ec0-4c7c-9832-ac1334201831 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:01d78eb9-0f46-4af9-bdfe-bd9505e8b0cb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cdef2c6c-fda1-41d3-81c3-d788729c751a phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:18ea9866-0175-4c96-963f-11f2df5fbcff phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9efd2358-c4f2-4490-bdc9-c3d6aa5edde8 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2436e8c6-10be-4a87-b53f-b0331d5282c9 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:00846a52-6512-4c91-b117-7bdf18c7f892 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e00bef23-9d09-45b8-8ada-54f7fee7fb0a phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f0dbe492-12d3-4c74-9d63-d29a45f95c8f phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:77bff526-6b99-4cb1-a9e4-17c5677d417a phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fb6235f7-18a6-41e1-a1b8-9f234c024cb4 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9d570a03-f9b6-4a7c-aa3d-f087e3eede35 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:33b13dfe-01e8-4ee7-9d1f-393b62cb3f53 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fe97b84e-0ccf-4aa3-996a-98c7edaa7630 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:92bccf55-ae31-4508-8296-e42b5dd40369 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ae3cd5c0-ebc9-4244-8534-ef1d2a4501e0 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8cbd2dcf-ed5c-4132-89e5-cbcb2bdea3a6 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3e6af082-c07a-4b3c-9db8-f354dee71a16 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:84306691-c938-439e-ba64-57c13efe541e phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2afdc770-0e51-45f8-bd5a-e389cfe874fd phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4bdfdf7e-8523-4d56-aea9-d09754286f52 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:d65eec76-3225-47d5-91c5-a10a48f402b3 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:fb2997a1-7372-4c2b-88f7-aa98e90f0f7b phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:fed26942-9b3e-489d-b702-684365cad855 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:21a5557e-2672-413e-8d3b-79dfc80ca826 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:a7ae8fc6-52ff-48d5-8514-8b8507530337 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2746ca07-c8f7-45ea-9e1d-7eac322c8c42 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:f1c41c6b-e67d-496c-beae-6215c3c2ce12 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:1635a782-3109-427e-8ba5-1dd9d0fbc0d2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:274ca52c-0e0f-45e5-8431-93f84ce0547b phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:5468202d-3671-4b3b-a280-6a17e55ec3d4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:7976e998-0c15-439c-9101-4dad24ac184b phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:251c9281-3350-4da5-8162-f6e5666fc5fe phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:00943992-a6f6-4488-83df-168d68dd98de phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:d777aa0a-743b-4f2a-9287-4ffe80bda16d phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2fb84dd8-3eb0-474e-8f7e-b342fd686464 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:7b1f5727-addb-4b76-91ba-c68122c3ed93 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:dd9d8f5f-929a-4ce5-b785-4a5f0c918ecb phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:e30e61c4-ffe8-4635-a944-54f345c19459 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:e12ff746-752b-483d-a83e-3ea07cca8fc7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:1ed9e266-965e-472a-82d3-8a32f7288889 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:cbf3c973-f307-4fc9-897b-61101a101972 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:0edc4761-8e69-4ede-9c99-dfe2d38c5bcf phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:fb9d7833-8b0e-445a-8728-27dc797c4889 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:edebc4e2-97ab-4739-9400-e4da19c7bf62 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:92abba2a-3c77-41d6-81c3-7dd1003c55bf phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:b73fce0e-bfd3-4b84-adb0-4f3c7abf90b9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:b97bd772-01e5-4d8e-afad-96a8cd0263be phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e710cca7-0824-43d8-9b49-fb75f1174120 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e7f8ccf7-291c-49a2-914d-a7c2b7796db6 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:d91b2de5-fb19-47be-840e-4c9221e69f65 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0c59639b-0e30-49a6-9d42-680e858522ac phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7c4c75ef-0495-47db-83d6-15f334883452 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:6c7334fc-5625-41d6-93c8-cfbfaf3cabc2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:1eae8995-b8bd-49a8-b894-c105545b75f5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0025676 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:bdf58cac-7369-4fb5-9a11-553d85e4ff55 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:4cebccb4-abfd-4346-a93c-e9deef5cc770 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:975c9e1f-6e84-4756-b2af-056a11a0bfb9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:8383f44f-49e5-4dc3-9cfe-8e40575e7031 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:902a1bb9-2d70-4203-812f-1753bc14241b phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_phenotype HP:0001928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0dbe6bb7-d525-4a76-b4e3-a9ebf65b4eb3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:78a46c45-2f50-4bc8-9ab1-afe6e7e559f6 phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:10cdc7f2-66ee-4a45-bc92-3ed7618f0353 phenopacket.store:LZTR1.PMID_31182298_Case_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:e453283b-82bb-471c-9725-715f5290bce4 phenopacket.store:LZTR1.PMID_31182298_Case_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:6bea68a2-9057-4218-8835-eaca09c96a78 phenopacket.store:LZTR1.PMID_31182298_Case_2 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31182298 uuid:e2e9fd8b-a1bf-43b3-893d-225cf21468c8 phenopacket.store:LZTR1.PMID_31182298_Case_2 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31182298 uuid:381aadc7-ff3a-44e3-b4ec-934d492ba85c phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ab28b88f-f909-42ce-b7a7-0a0ccc087bc9 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:cb6e51b6-2b43-4a69-840d-fa644e00dcfe phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:77f1539e-07bb-4f45-af4b-9ff831428e8d phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:02fe721b-c8a1-4750-a3ca-6452087f7bf9 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c79bd87d-790d-49e9-81c1-c0e700a5bae5 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:94fba09d-67ef-4048-a48c-4f88f1b8262b phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b1d6981b-1f2b-436b-9cb4-135a9b097efb phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:32a3ce6d-bb31-4e19-b382-ab9da866010c phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ec0d2669-236a-4739-a190-4c05d7059d18 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0a305f50-b543-448f-a114-ff4c113dc170 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4eaaeb3b-db28-4c48-ba55-3aa93a3d6069 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e2d4ed73-f86a-4426-955e-9e0fc09075c6 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7a65b83d-f7e4-48b4-a27a-723807a45a9f phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:eb22c42f-6984-4d28-9840-9219f9a7f476 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ded225c1-0bc1-4731-8f22-aa200347d3e5 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7296a161-5475-430c-9643-81081e3f69d5 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:06cebaf0-45a3-455a-a40c-7085cd6f28f4 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:97ff8b0a-3e19-461b-b435-408925899344 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d259a34d-53bb-48df-b734-9c05a24fb57b phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:86a8d8ab-632a-4a96-a86e-2ee3dd2f856d phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c9746e71-66c4-488d-b40b-59177b91c5e4 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6cead329-e102-40cf-8353-6d3e311507aa phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b3ea5fa7-ef81-402d-ac70-af99c31f3e2a phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f27514b9-5b48-4273-a1e2-9ff576d1fb23 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c50e2401-445a-4097-992e-2917ef55035b phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7b341195-6f9b-4c46-949a-651c65bb80a9 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ed7d2470-2fea-40c1-9bc6-94ada6969e8b phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:47590294-4027-4315-89c0-b9e52cd3071b phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7a3ddf18-8746-45dd-8a4d-12c68dab3979 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:48c6124b-8c14-4b6a-ab9f-21e4a7883a81 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c48fac17-d451-491d-9fdf-41f96f601ba8 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9753d001-282a-4501-90bf-2e0c1070cba9 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:22c4aad9-3480-421f-884f-adbf5b4e3e6f phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:43bc7b1f-3c83-4643-a467-bf58faf8f97e phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cd692916-353c-49fd-9cf2-6fd8c5771f9a phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9325ced8-9371-467e-b597-e405c4831841 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c4d89ec5-cf6c-4b5e-a568-ffb28d004401 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:aaa3a745-7b99-4d9f-abd6-b88f0ae4ee84 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3ccb3c9e-8e99-4bca-b225-4cb070734577 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:a48a123d-0022-4790-abc7-b42f99ad7a04 phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:53390e02-e210-4e35-9cd8-a8a3cc3eef2c phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:0a411c23-a13b-44e0-9b4f-1787db6d70bb phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:14a6a16d-2f5f-43b3-a1bd-e7efd3192b89 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d772cf01-ab21-4f5f-a0aa-32424174cac5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:87936b1b-f545-4e88-99c1-14b4b3eb801d phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f03000ff-8ff4-40e8-8a18-5f29f7b091af phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:4845a447-325a-4a47-b19c-73c9cbc9dc27 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:9c015069-b7e3-4f47-a9dd-5a5e3bc64cfb phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:3db58823-956e-4966-b1bf-961ab02b23a8 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:071f2b77-3199-4479-9410-6c0dd053618f phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f8f4a1ae-af3d-4284-8535-5c50617d6e4f phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:ac88f5f7-2f4a-45fc-9c8f-a2f5191dd2c2 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d7406e52-a777-42c8-9442-acdafb86581b phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:9266ec57-21ad-4fd2-b349-f4a4d403e743 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:15600b9e-23b2-4733-868a-99f76e4cba0e phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d3bef489-3180-4ba8-8f8b-cc4f98e87f79 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:0ab80582-99b9-4b1f-b642-b740fd7d9e7a phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:b2595c44-1c3a-47c9-9800-5cb6bb3c92a1 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:8e6c88f0-82b2-484e-94af-6c2cedb7a165 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d5e61889-6e4f-4c99-bd93-3a528de1f081 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:75cfc8d2-d6c0-4838-a73b-d0c49505c388 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d8a4e17c-a984-4679-82e5-77aa26de08d2 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:cffcfde5-fbee-47f1-9f29-46ec2431e0ac phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:215ce17e-b146-409b-bfdd-c226c5668d01 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:054018c5-58d6-4895-baa7-26c1a4105353 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:61e3e593-5442-494a-9886-fdb93d4df224 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1118e974-513e-4708-b90f-ece2b94cf63e phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:006b4131-acd7-45b9-83e8-d196591320a0 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e385f8ee-d526-47cf-9296-13f1611c16c1 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:74cdc90f-36dd-40a5-9182-48eea3a607db phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:dfce6535-879b-4348-81d1-6d2d9b5a1257 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b678e166-8d59-43ef-b131-edd89c96f5aa phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3aa9926b-e493-4558-ad94-23d90dea463b phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0c0a5b7e-f388-4751-9186-9e4dd89d5b65 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e80e81fa-4ae9-4c8a-9fcd-380b48d365ef phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a89d2550-907f-414b-92a4-4b691b3b51a2 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:fe55d99c-62fb-4d4f-9af6-647a89ca14a5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:53395eff-a91b-4b4f-b56a-da4d86d18a3b phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:19248113-f3d8-4aa5-ab49-3ff57aba43e6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:787cdb96-60bf-4192-991e-6365a253b025 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:98952ca1-73f2-402e-b800-65881b1e20a7 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:6b9f0f5e-c43c-4c73-a599-9e0238f8adf8 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:91930172-55db-411b-8901-183d7a2924cd phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:aa8e5c44-d91c-44ad-b86d-e4648837edd6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:fe552907-0b06-45e8-a59e-bf5238c401cd phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4628e209-8909-4fe0-b991-31358a2da195 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4a172721-e786-43ff-b01d-372a5372c3fe phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:25b394ce-6a13-434e-a3e2-67c109cb1f7e phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3a4ed48b-e932-4698-977b-a9ab3d37b819 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1c9bfee7-23e3-4096-a7d0-d23c5f8423b9 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:eb0af5db-de1e-4253-bd92-de2960d0cd30 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c9651804-6977-4437-bd36-59b93c2f9cbd phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a5387388-c142-49d9-b160-91c365bb1229 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b9173390-486e-4d32-8dbb-10ebdd44a39f phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:9ef43ecc-b842-4a7d-b7db-fdb82e56b992 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f98d498e-ad9f-4824-be2b-225420ffba19 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ea28bc87-c8c1-4d42-972a-8f07fb6f597d phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:acf0e7a7-c32a-4493-8b4c-163dc145e80b phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:897cdca3-30bd-4c61-a7c0-e701ee2a121c phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c133f2c8-760e-4e1b-88fd-8d66d69870d6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d3d521fd-d4dd-407e-a08e-e5c7d61a6e3e phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:05b9993c-5eba-4df8-9fb8-3d6dd33c6e85 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:83ebd2e3-f4d4-494c-8a01-1ca1a1903f9e phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:8eb28e99-dc80-4df4-b2b9-5db9dfef73ee phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:bf2040fd-6f67-46fe-a04b-e629dbaf3717 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:8740b47b-0aca-463d-bfb2-34effbdf2c1d phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0de6848a-c204-4527-8fb9-e2758bff6b00 phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:43349951-85f7-44ed-a056-4032e144ea7b phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:d2080156-0de8-4c8c-8bf7-89fd9dbb4028 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:587fc4cd-e541-4a28-b63c-7a09318bed75 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e86079d0-33d5-4145-83b2-b58f5c605018 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:45842726-4b48-46ca-bb0a-851c7a1f2034 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e648f252-2248-4ebd-b2d2-1f72f5ee3f1f phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:9bf22f4e-2625-432e-bfe6-d2c6915f8ad6 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b64df493-5b52-4d6b-bb7c-131cf8e78558 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f63b8556-8571-40f4-9b05-c2bb7169ed7c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:cde1211c-8f66-4a45-b5f7-fe0b210c4572 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2fe001ac-18b2-4680-912b-7a995dbbd2c8 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5b9a36d4-4106-4d0c-a2e4-b45a377d7483 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:78f448ff-4609-4ee6-a36b-248c3d20ce93 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3fec10b9-29f7-4622-b797-8a97db62233a phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2eeed91f-91b0-4978-ab76-a1a44af5839a phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a7a0fc88-69ff-4200-8b29-4d34c556412c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:dde427c0-a691-4cd4-9bf0-5143c7cfd4ee phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f94e7f51-50f4-41bc-8641-dc4e642e49b3 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:38078f3d-02a4-44cc-aeb1-bcc869f1ea06 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:234f85dd-cbea-442b-8a53-320a64e87b7c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b3caef0a-aa03-4580-950b-211a6ab563b2 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3727fb14-4b49-4de8-897c-8d2317de7345 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b96dbb3f-5b6f-4a25-b14c-b1491740374f phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:935a3e1a-52c1-475a-b896-60b2016990fa phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6c3ddb97-e01c-4bc4-8c58-202ead541919 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:18e5e0b9-25a0-461f-b48e-342cfb155786 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c124ce7e-4a73-4585-97cd-44fd6d651ba9 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f2e94912-11e4-4f13-97c7-ce436d856d67 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7d136220-e653-42b0-a5b5-76ff103f3f02 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:71f034fc-89c5-4595-a0f9-ff5d672a9863 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:446cd531-f751-4c98-842f-4b2637e6d52b phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:dfc810a8-face-4e07-8f11-8ba8914b6edf phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:11639abd-c04d-499d-97da-7c466b7c33e8 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9c8b9e96-022a-41b5-ad71-06104f33db15 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:132082b2-a168-460d-b3dd-10c315d5ba4d phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8922784b-b9c8-4df6-bb87-6267f299942f phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9842865f-4e9c-4a23-8462-4a2240b06139 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a199ecad-af56-4102-ae8f-825ea2abe3cf phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7a85b75e-8ff9-461c-858c-84f121a6c6b9 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e4eab937-c136-4764-ac81-eeac2e51f695 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:95d8e79e-d801-40a6-91c2-474571911ad2 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:ff85d077-1729-4ab3-a8ea-632bbe80c347 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:1c6ae096-4041-496b-be39-c871169eb726 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4fc7d51b-7379-40dd-920b-1eb72720d2e9 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:32236558-3132-49cc-a733-a1e08425acc9 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0812885f-b755-4a3b-94d6-023db0207eab phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c7e47275-9208-427a-b671-f16b5a131d19 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:9a45a39b-a6dd-429d-8efc-57d2a42725bc phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8201f64e-b650-4ff3-92d9-e094f5a9793f phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:02abbe2e-4ad6-4f48-ac2a-9e7cc6cc9255 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:25109fe0-3e77-4dca-8415-59afc8f931f6 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8b497fd7-f99b-4c8c-a351-0e13bbaf7625 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:66698528-18f6-49b6-8fe5-3f1ee0030a02 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d0f5dd6b-f0f5-4a76-91be-ef68549f855b phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e1799aaf-327f-4655-9ad3-9320d4854292 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e53e7f77-982d-4247-abfc-6485270c987f phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f2ea83cc-43dc-4d82-ac7e-1a36c3d5d8a8 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:0a38db07-38cf-4463-8017-c2f83c40f3d6 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b2e324e4-b5a7-4aa7-ab5a-7b4343f6f543 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7d1443d6-5590-4446-b762-f10ba34df577 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:710a2954-257a-4048-94fe-ac774c1d09f0 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:45896bd1-8d61-4a70-9faa-70a954ee77fa phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8cba9a15-cc40-4863-9cf1-b60e6361b7ff phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:0719c0a7-1b66-44fb-92ed-f006bf774288 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:57815782-e45c-4c92-9796-06353d44644d phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:127572c3-0935-4ebd-b01e-529a86b1b1c2 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:0337df94-e741-4e22-a2f5-986b0e152278 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9ecd32d6-cc64-4698-b143-b5605bb608fe phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6337e73d-83be-4cfb-b8fc-b54d6290f072 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:66c5bd9f-61e3-4589-8598-939e83a9b6e5 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3e65dc97-bbfe-4721-8074-efc8401ca72f phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8c557f1d-83a4-409d-9288-7ecd6699b7b0 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:01d660d8-1200-43aa-b9b3-18af47d29e92 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1de113f4-02f1-4a90-9ad4-b33fe4f4c515 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:63c6dab6-a1f4-4955-9b2b-b8f53f5d4edd phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f16af6a5-a978-4685-b701-0fa731270a92 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a7b7b298-e09d-42f9-b3c6-3cc4035c6590 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:a3244b5c-7b3f-4007-a101-d97fa23f76b3 phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:232902dc-7bab-41bb-b5af-9e1e0af6e39f phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y3M infores:phenopacket-store PMID:29469822 uuid:e99d3ba4-ee3d-48c9-a0cc-a9a78c6d57d1 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y8M infores:phenopacket-store PMID:29469822 uuid:7e347e29-4b5c-4a6e-9ca1-a5451e83b9ea phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y8M infores:phenopacket-store PMID:29469822 uuid:2c749e4d-4d2e-4c3c-af7b-5d33b3f3ba12 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y8M infores:phenopacket-store PMID:29469822 uuid:7f1b70f4-13ce-4837-9801-52292095bac2 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y8M infores:phenopacket-store PMID:29469822 uuid:3d818175-ef71-43fa-92f9-45b2c9e44548 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y8M infores:phenopacket-store PMID:29469822 uuid:8c14a176-1f66-492b-88d5-376c5ae29ac0 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y8M infores:phenopacket-store PMID:29469822 uuid:4e110e90-731a-407e-930a-72e688f0eb5b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ea68da43-6e4e-4dac-90b0-7fb2185da45f phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c1cf2abe-9c4f-44f6-a2f0-a562c892d039 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:babae2a4-b68f-43b2-a4eb-e583032d7cb2 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a570a9ce-8913-46d0-9e2c-1bbe840c7403 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:5db56934-a82a-46f7-95b8-5300377b85e2 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:48c8b8da-8d1d-4d65-9537-1be704f407c0 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cd21aad8-0d9e-4ea7-b1e4-7a5933e63818 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9f99c20b-c52c-4091-8b77-865af98db04a phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:53735deb-c552-44ec-a307-5f1b05e24b04 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:05de24fd-f6f0-4ee2-bfa3-5df0af854b61 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b9cdc19a-789e-4f6c-b83f-0e273a1aeaa7 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:bb481b0f-fa98-40db-ae2b-7b59539c629b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:356149ce-fbae-4a22-99a7-44d5f3f6ef8b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cc9ab434-29fa-458e-b0e4-662785c301a6 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a2fdf39c-1136-40b2-96c2-fcf491c6b455 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4150f165-b278-4590-af55-31da61336f88 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:88d28c16-dfe3-44ed-9533-b2915a334fe0 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7f4e68b1-d9e9-4c4b-a409-69fe146a90ef phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f73c5b80-36b9-482f-a4b9-c5c2a3dacee5 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:33b82abb-02c3-496e-b824-a6b6a988b44c phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4172835f-6e05-4ee1-99fd-8d04270d4196 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:08c54d13-1620-40e1-86a0-df67d7f1e6d1 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:34362f8e-bd72-413e-8e2e-ae5136cf101d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fcdfad4b-d6b5-4a5e-9bc0-e585c911820c phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4155a398-c782-47e9-bf26-fc8854df5942 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:04827ae7-475f-4223-879f-a67d5054c61e phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f883ec7a-ec17-4508-be45-43222c890b5b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c30665e8-aeec-4f84-b8ec-9da63c88c590 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7abc7d99-1003-4bc9-a5c9-02583b8a77cd phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:16b01d24-1c86-4cff-a566-b7207bee5929 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:14b70fd6-55f1-444b-9cd9-2079c015aa4e phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8a728c37-de14-4dbd-8212-4813a383ce02 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:0c1339c1-7b9c-462f-a0f3-dbd7fff193df phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:3f091392-0215-45b6-9e16-afaefeb59cd9 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8d279189-e1c1-4f59-941c-aea10c02a3a8 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:42637719-f528-45a9-8735-2f2a59784754 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:de296256-6dca-4d75-a314-3c597d9d4afb phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ca4c13fa-1150-4361-9153-6e47c0db6bdd phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b8a94c06-d8ba-4a0a-ae13-b2630a493ed7 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:76a41627-01f2-4d8a-8543-03dcc1b8fe74 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:05188409-b1ea-4451-b19a-862d5695ef77 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:dc88acb4-d7a4-439c-a23b-5d0615345114 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:5f29439d-e067-4406-a607-3da668c13abc phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:043b0a07-3266-4bb0-86af-44d04779f1b0 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:54f3fd35-7054-4062-bc2a-ee6086aa9e06 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:cdacca7e-d23d-46d0-a60b-9496a29995d2 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:23cee3f6-bb4e-4c7b-8e79-c414ede10ae3 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1ba4d83c-307c-49eb-b0b7-52e9c6ced01a phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:91540390-a00b-4cc4-a078-2d4c6029d998 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c4c128d0-6907-4ca4-861d-479ff571b6a2 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7663d857-68a6-4ccf-937e-980c84f5a33e phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:605be7e0-49f4-4c8a-88f4-2f540928c1d7 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:94cc6e25-2300-4f7b-b0ca-96050db31f35 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1f5ceb6e-7ce1-4bc0-9287-91d8aded370c phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:be70e235-1b25-4752-9afc-b63c14c0b28f phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ab11389b-f835-43d9-a94c-fdf418364b29 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:085a0cb0-550e-4a19-8a14-f023601909e2 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:03c29670-850f-4a86-8ef0-1a7d828d150e phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7024275a-f867-4b27-aec6-22113b212e53 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:833b31f2-52f4-48df-9bf6-9daa11d23a56 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:08e2eb05-a9bc-45e5-b7e8-1584aa6b9f29 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:100a5092-833f-4fb3-8826-ebd0c86a01d7 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:21e2f5a4-dded-42da-8246-fd44250c1313 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:020d0c14-da18-4cba-8085-a5852af93464 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2ee33fdd-3e37-467f-a314-cd31b3d0ae17 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:274f38c9-82fb-4307-ab17-0e16ab3642e7 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b4ac094f-ed4e-4c95-91de-7d5fbce4014d phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d3ca32e8-0611-4e16-82a9-be7eb1a99ab1 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8c3ae71c-5e97-443c-8460-830968a41a1c phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6a8aa905-f1ba-49b2-935c-0b1a5be7bfc1 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:37ba7f68-e170-43ca-aa59-2e1d8f2f80a0 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8769add6-a587-41ca-b031-f5764862007b phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e6c9bbb9-9473-44bf-ab3c-f447810bb7a2 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:116987dc-c011-4516-8a55-653c299286f3 phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:29469822 uuid:f7119f6f-806b-4ffc-96fc-dc41360c2aed phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:ff996506-a6dd-4409-8514-0bc4deff2359 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:602477f4-60c1-4878-956a-5a897bb18681 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:2181195e-613e-4d7b-8456-067cbfc39c12 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f3ee679d-4e99-4d5a-876f-66086885f729 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:a04868e2-db1a-4fb9-918c-61f36dd67083 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:27a18157-d21f-463e-afa8-28e4da2de9f3 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:3929e09d-a008-470a-947c-edb2b8b4cde6 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:131a6dec-6f48-48cb-815f-b468cc2612a4 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:49d1c7d3-448f-48cb-8850-0a306c797588 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:125bdbf5-3853-41f1-9d6a-7a9f5e35a763 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:6bb9a265-1826-4111-a0e1-97b870264894 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:baf299d2-7dd5-483b-a81c-d07bc86c6bd6 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d5c741b7-a235-410e-a14a-252b40f1c915 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5a766ec0-5f54-43bd-8c05-5edeee30b51d phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:954d05dc-f1ac-4df8-99e6-494d122fa0d6 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:65b29f01-03c2-4f1a-8beb-e0e0c7420a91 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:1bae4613-05ff-4463-a690-26b98f14bb29 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f3bccd11-1343-40e7-8a57-4a16853f87e2 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:b1ef73f2-7a36-46b2-b4e4-38be087e0ad9 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:90a6f954-ffde-4b30-a54e-f7f68fec6590 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:6b6e351e-39a7-4f2b-90e5-8e8e6058c36f phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:527fb550-e133-4a96-b9e7-200e28d7d909 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5254598b-2c32-46e9-bf2b-da23cb82fdbf phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:921daec6-5f30-4400-927b-0686b0768a04 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:2c7f49e1-2295-4a22-afaf-68388edf40a4 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:feef8bbd-5100-421d-ac85-252cec0b0031 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:bba426fb-1485-4b36-a0de-2813d15e122b phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:57b850a2-77c4-4e67-8b3a-4cf3caf0928c phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:85b752e1-a911-4961-93cc-7c182d4f0c5b phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:27cf6041-64c8-4141-b7ce-5cc1a5ef9241 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d2265d95-af9a-491d-bec2-005c65e9e93e phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d5e0154a-f1b0-4b29-a62e-9e835849d6af phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:26f3c43b-3807-4ca0-84c1-7e044a17438f phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:bf10e57c-78bc-4d78-8cfe-5333cd26ca2f phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:49acc6e7-2cd2-452a-ae9a-0b3daec32310 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:6b67b701-9486-4f1d-8b5b-623173dcd739 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3605a8ec-5d19-46a9-974f-d9e846446f62 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:75d6933e-ab26-4e56-be77-5482f53a8f49 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:5d8d70e8-2435-45b0-aa9c-4c3e2fc8c30a phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:21205cd5-be52-4ae7-8d79-72e576364128 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c8b5fd93-6dcd-4d6d-8065-955bb06304d1 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:effaff48-4a6d-4163-af11-364293553de4 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:7546de38-f637-4b82-b0e0-e82bfe0bdabf phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1916455c-abe0-415f-b878-d9f463e83252 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:8a90ac9f-ad8e-42bf-8ede-2aaf621db225 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:49b8fcb7-1b37-4de5-9d71-0680e732abb3 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:17383aba-da7d-4edb-9e3d-866aaf2d7389 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:75a56cde-c6dd-4c74-8805-ebe04a4b1627 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:03c7b23a-6ba0-423b-a07f-9825a8d2fe57 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:232236fb-397e-4bce-b349-83012195580a phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c396d72f-d7ad-4818-9ac8-0445fdbca861 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:94e3b7ff-d5ab-452a-b770-634c63f0de5c phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:98449767-d56b-47eb-8c03-e96f6e19db49 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0513bb06-51d4-4966-9389-64a75f9e01eb phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ef58b780-38e8-4cd2-a7ba-0e8ce904b9a1 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:9ba1afb2-4ebb-473e-9c97-3518594f357c phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c645474e-c5c9-4555-9039-1f99d0a9518b phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a5bc7e86-1f8f-4353-97c7-ee48da08d669 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d638e3e8-ddaa-4e63-b9c9-0c6bddbf4531 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:fb931706-b9a7-4f9d-8ba5-a6a47f1697b0 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:5a6e8bd3-ce9c-412e-b00d-64eea768c3ab phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:eec82c93-38c2-4405-b407-f4397652c2bf phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c067a70b-1e70-4ad5-83b3-dc144ae1f73c phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:94c4f4a1-d6a3-4cae-b616-e5c37b89e1a7 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:352ce8b8-5979-4ab6-87da-b7fcb630f86e phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b4ca80c2-f4e0-4cac-9304-3cc923898c4f phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:bea8e70a-c360-4bb8-8867-7d42b1c69f21 phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:12a1d36e-e8a5-442f-92e2-927719bbe4f1 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:9e76f60f-434d-4a59-8402-a962e4528373 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:a81c57a6-5728-4e61-87bf-5bb92764a77c phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:b61cd3fb-91ed-4ebc-ba37-c0147c8e4c0d phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:9b98e762-3991-413f-bf1e-e35a9c279fd4 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:d2e2cbdd-06a5-4441-acde-fad7531dd46c phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31182298 uuid:adcb771c-3f1b-4f3e-b93e-b5473de5d86b phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182298 uuid:c3d2c4f9-e779-4da6-9ee3-cc1ffe1fb4c8 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182298 uuid:327bffff-6c82-4de0-a217-b4f4bb6d4ad6 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182298 uuid:f0773b66-3a2a-4332-99db-2eb6e18202b6 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182298 uuid:e4564a1b-af34-4463-aeb7-e44129d5a6f7 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31182298 uuid:6d259fb9-44c1-44a9-9235-4839ef4dde27 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31182298 uuid:5e844501-e9b0-4e4a-b2cd-d6ce44e31f95 phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31182298 uuid:84ca51e9-91e7-4a8b-87d5-8b1208b3231c phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:fe5d636a-467f-448b-ad4c-18ecb1688dee phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b5fc5dda-dc36-4c58-8856-185bdee20570 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:4967fa00-4c13-4333-a626-3a633f1f0304 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e65b6933-d078-4adb-8d19-2771f4df8730 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:96b56cd5-9bb3-4ea1-badb-61ac0d9c425b phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:71c64d15-74ae-4e4f-bbb1-5a698b6ab1b2 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b1c92a7e-af90-4d20-a94a-474776fbd9dc phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f2826cfd-6acb-4848-8050-b2112e9f0312 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9506d515-aff4-4c1f-9a58-f9d09896710b phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:0fe95a8c-95dc-4ae3-864f-f946ec845d92 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:200f2771-742a-49fc-bef2-bab15c173261 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d6ac2eb6-5568-4489-b548-53c835d2525a phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:094b614e-92c2-4089-a1f1-cb05d622359e phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f9cfb134-7cc0-444d-98bf-390c392007ba phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8c34137c-3907-4329-94f4-5f9f3e86deee phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c1af3cbf-5c60-48b0-be7e-947e83399535 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f2189d54-224b-4e0e-a37c-1328c62603f0 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2c009322-8f4a-4a21-b8ae-321e4a1345ee phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:97133bcc-61f8-4b43-a798-236827c043e7 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3cfaef81-6b78-4095-a242-7c0123d95390 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d50a136e-4504-47c0-aa75-a5e2a8a511a5 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:09f35a45-c65f-4273-8d30-ed5a963063ff phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7e765fd1-73d7-4cce-8631-4ffc18ee6450 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a664b0a4-7bb4-4953-94ba-4ec3c2580e25 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3772c6e9-7b96-4ef4-9b49-07f9b78f3778 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:70c85f71-437b-4f21-88fa-ff1d3e92c758 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:686e1e00-deb4-4faa-aeaf-c2bf9e0147a2 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a514da88-09bf-463b-95a7-ba2ce7a665d7 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:328c9dba-eab2-477e-bfce-783a61d07ffd phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7b0fa76c-d26c-4f97-bc83-d44d942ff94d phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:377b6aff-c911-443a-b255-4b0151cee78d phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:bdc429b7-82c5-4837-a0b0-e23f0f6e80e7 phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:35041bb7-2a97-409f-81d8-08619820058a phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:8c29171d-e7a7-47fd-8abb-d969a9267d1b phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:3d6cc25d-17f9-4638-b20a-0c9b2100566a phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:73c265e6-c3b4-4496-9e60-a1f8515211fb phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d5066ec2-1d6f-40e5-b979-97e584adb527 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:8741c344-440f-4db3-b025-807d9378919c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:879660d5-95f4-4c49-9958-36720a48429f phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a80ee823-6da6-4f54-a1e3-0d43ca1ede03 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d6043382-ffda-4574-a2c4-85f35b7bc6fb phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e7e76cdd-d757-4bca-b158-652c55403249 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:19023b6c-cfbc-4a5a-a2cc-9d6d645cb2ab phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:7527ced0-adf4-4784-9e6f-b0a87cdd7b51 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:7da0cc44-4c18-460f-bb80-308a49bc7a6d phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:39b3e5ef-c410-4c1f-8019-022b3c2e74ec phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2f37dd0b-8772-48a0-ba37-cfe9fb9279f4 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:cadd3877-d0d8-417a-a0d9-20d811912fe0 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e1862ded-a504-469a-8c9d-186dd5a66b47 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:605ad6f0-3991-4d98-a419-9bb56bd2919d phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:35724c4e-18d4-49c5-8916-5a8c23d0b933 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b847679a-44e1-42e4-b024-dba482f38ae6 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:038775fd-ad61-4d61-9c60-a3552b1d0c2c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:af6e00a5-4990-4690-8581-28dc059910d6 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:89fe6406-d757-4167-9189-1bea5d3bd786 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b98d73a3-2fc9-47d8-96ab-31a9c32d5413 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:565f3c34-4dbe-4b26-be9c-b7fc8fe4ccd6 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:db28add2-44f7-4505-88a3-84d4bdfa7a1d phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:bec2a982-c66e-4928-83e7-7ed6d0109190 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fd4d08b2-865e-4bea-a01a-108a4d99bc0a phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ea2155e5-32e9-4cbb-bb90-4a2f9b99a716 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d02f62ce-fc0c-41c6-b6a6-4cd20be9b0b8 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e5718125-b4fd-4b28-9121-79e41b2c59db phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:500bb75a-06fb-429c-8fc0-369fda84e64f phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9d5aedf6-aa0d-40c3-a320-6daf57e2c2f1 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a658f4be-9a31-4be0-a986-7476762b3a7c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c8a5b185-be34-4207-8a5b-98dd13cdfab8 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:fcdacbdb-1ce8-4da5-80d7-220448039bcf phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e021a716-4bb2-4500-a769-d6037aac4e26 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:70a15401-813a-4d91-b3a4-c58d05aa7afc phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2bee56b4-1d79-4b98-aa52-7f3d0f02942c phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:99bea3f6-e739-4e58-9e97-ab5b383c6c73 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8b203f46-3976-4bc0-86a6-39bd6d1c3c5b phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:000db564-b787-471b-9c66-a5318877bc5e phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:33fbd353-76f3-45f2-b630-3ed6af030255 phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:b48c7d9a-3593-4af3-921a-8d91ffdc673a phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:09f0cce6-8f9f-412e-a60e-0e611482d2c9 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:facc13b0-ccdd-4c3e-aa0b-9928cf64cca6 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:7965026e-d84c-4d0f-93b0-9fb2223e874e phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:ec1d4409-127b-4dde-b124-af8b3bf3a5e4 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:7962ab74-4b20-4829-a428-ef4c5c3afb85 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d3cb5412-3a0a-4d61-b830-b39ab1d5a73c phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:275e4404-e5de-4390-862e-ce7e20a068f7 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7a34004d-3ca7-4f73-a796-b61fcba6f64b phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d5a8f14c-f06d-45bd-aca1-a0bf63951e03 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:395f7ff5-f3f4-4bac-80cd-d36b15e40e8e phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e6db6b6e-6f4b-4a95-bc72-c2238562d6cb phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5fe1f821-2eb8-4e8d-afde-07d31ab63657 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:19eac5a9-6690-41f0-baca-a6398e588243 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:441ba863-cfdb-4d17-bd5f-017658da6447 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2443a3dc-3f48-478d-a7e4-e49ca174281c phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:86a8b269-2178-41dc-bc29-05274c156244 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2893f087-052c-44b9-a103-4d21525e5199 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:adb37f2b-ab5f-4d11-8a1a-339a622cacf5 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9b6acf69-af9e-4a3e-8827-40897a1a3cc4 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:dc36651e-5307-4ac7-845e-7fd388e4c13e phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:582d4f32-cbb2-40e5-acf4-91aa11d2d176 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3250a57c-8699-4555-ac9d-2151ae9391f5 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:be906adb-22a7-4dfc-a1b6-0e5209c2959c phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:590d2c09-2d66-4330-8bc7-1189018bded4 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4154d92c-40fa-4831-bdfe-69399ebd53b7 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1e069961-b460-403e-8047-76cd6c062790 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1c3f4ffb-0233-4dae-90c1-83a85ca2b066 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:b23c0bb9-bdaf-41be-bb03-5bda43bb9267 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:67e30c74-089a-40f0-bc68-34c84b817651 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4a5a2db9-a8df-4785-8d0e-23e490834d28 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3bc5aa49-97dc-4ef7-aa3c-ac601a948f12 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:07c559a7-63b0-40e4-aa1b-a18d28686135 phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:c86f5d6e-d550-46d8-84ec-bfb79e161ca6 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:9770a0b1-3d48-4c5b-9f8b-50eb74bb67d0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:dd4424d3-8c7b-496b-80c6-152608812e77 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:b5cff135-468c-441a-ba40-ecccd53c815d phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:e04d7849-17f5-444d-ae81-9435e222c304 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:8c7d9043-1cb4-421b-9733-7cfbd55cd1cf phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:6d40c8b3-fc7b-4ebe-af80-d5f3d3111465 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:3fbdbc3a-05b0-482a-90e5-330d7e6d4eb3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:7ea6f03e-2da6-44ae-812e-319479f74951 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:9bdc870e-97fe-402c-bf0c-046f1c11a7c0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2f332114-01f0-4c69-8381-c7332d254bc2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:72881256-2bca-4f65-84c2-be6188642dce phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:eb68cd7d-82c1-49bd-8db5-19a5a37c1ab8 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2cfa013e-3b8c-4c91-b0b4-153d1258b151 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:b64cfa5c-5136-47f1-a05d-fee6b94d42df phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:f0106a30-8f56-4315-b410-da8c63a52086 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a49189d7-c164-4b25-b6f3-4781ed62868c phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:cf534c1b-66b4-4bf5-b4f7-68a9d2f47f88 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0495bdf6-108d-470a-b4d4-518058cc821d phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:988f76d6-3bed-4692-a507-074ceaf9f995 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:70972587-aa63-4de4-ada8-ac88bd9b56a8 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:667ad51c-a8f2-4a45-8ec2-d12a7db9ac28 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:770232cb-809d-4b5c-869a-660da687fd78 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a8061dff-7d26-4b21-9eff-0ce16bddd5b4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9816ba2d-908a-4df4-80c4-accc95cd749a phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:fe79ad3b-4448-47c8-9f2f-507d465ddf79 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:f3b0021e-fd12-4f52-8b2e-434e9af27d4b phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:b6952cab-a797-44ba-9c62-2566e8ec4f73 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:cd4cdf50-b69b-4b64-a809-cec12294796e phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e33347e6-dbcc-47a1-b3c3-304b923e369f phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:0a595ee6-67fc-4f8c-b6d2-44d010b70dda phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e2d9687f-4329-45b3-82cc-27b6d6394749 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:47a470be-dfb4-417a-9c1f-ff67458c7712 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:9300168e-3053-4afd-97c8-9de60ce776a8 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e4ddc172-a4e0-4e76-b556-ba17484599d5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:33558806-c36e-4b72-80e7-2acf27d38c25 phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:10b418e7-78a1-445b-8cc5-b696dc9cf70e phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0b386b98-b497-4a97-8c32-cca7f8cea8f0 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:76d6efff-3d29-414d-95ab-aa945a61abb2 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:03cfb941-a4b1-4962-a084-0e5c74adf66e phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e3ef2ac8-4639-44e6-aeb4-128c914419b0 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:caed2f35-e1f5-46a9-a1fb-64fe4ab4c470 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:68a00194-ff18-449d-a6bf-cec54f6a5648 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e36f18e2-f633-4bc3-bf66-a8c0aaaf11d3 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:315a898f-ef3f-4310-988b-bdd1a222404a phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:83541cff-b6f0-4626-aeda-107725cbed94 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e7ecfda8-74f9-4126-8802-fabbb8fc1b77 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e548fa09-d027-4d8e-b07e-af444f7ae102 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c3d025a1-9d95-45ac-b4f2-1f1618681251 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a0e0c2f5-a251-4ed8-8df5-14fe9f002069 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:86340f0d-b696-40e0-b228-e1f60f5ffd67 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1e9afe7d-1b12-4a65-a32d-c5a2d0fcc6b7 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:abbf67bc-a641-4f8c-8144-2a2bdb38f527 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5a57d3fe-8560-4c1f-bc41-6e2fc8d4f718 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2cede929-f9ed-4bd9-83ed-240a55703aff phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7ccbb0b6-4a3c-45e6-bd31-1481b0d84e50 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:7d8f1db6-3598-4968-a5c7-99eba6287207 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:678836c3-2488-42f4-8afe-7e88328f4ace phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:499339b1-3149-4678-8812-9973ccef92a6 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8dda01ed-8b17-42ae-84ab-841a12e6b73d phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c2fac784-b850-4c92-8334-add599029048 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4b6abcf8-72e5-4e2a-baea-8b02f33bdd6f phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:045d19d9-ef95-4146-8b8e-b19f87df5ed1 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1ba9ad9d-14ed-4d80-a897-522b915a574c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d0210801-b761-460d-a33c-5e13c925db1c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9fcd2a5d-48db-4056-919c-0708151b853b phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2bae68fd-53ee-454f-81f2-5193c3074ca8 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9aad4118-8122-4c8e-95f1-e189c6875271 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:060f083b-6383-4b57-a7da-a9f5c85a0ce1 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:573520b5-7e71-47f7-9349-de310a9833f2 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ce4270ad-c4cc-4e00-a507-3719f61c44c1 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:117b63b0-dcaa-4ae7-b3d7-1a37860a9c58 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:208b2a79-fb38-4fab-8bce-f382652b065c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f2ba7e77-5516-49a4-990b-6a3fa398f5af phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a2bb0316-9d7e-4f6e-a905-625544758fa1 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:949ebc81-a3f1-43d7-9624-03344d5fa90b phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:9e3aa9ab-a5a8-4033-ad43-eed67a88ef4b phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:4ce997a2-9043-457d-ad6a-3c4bd5cb84fd phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:46bde443-375d-4610-80ae-70510e86fb63 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:591f5759-92e6-40e0-8048-3bdf23977790 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:c6683542-e6b3-455a-b9a5-c4f04118db76 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:cddea744-7c17-4ff2-8413-f68bb35345cd phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:60cdf52d-fd4d-4014-9403-00b08ecaebd5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f5ac21f9-0221-46e8-98eb-afaa039b95ba phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:846065e9-450b-48af-aeb6-303e7254c376 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5a962470-7908-4584-a8a7-2058b9b39823 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:10dc0a3f-cd3d-4206-a364-17109c913d36 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:572066d4-27cc-4409-8480-0ded2a793450 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:ec57f3b5-217e-491d-8558-c4fb8d002e83 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:eb70f70b-c6ea-421c-bb45-5787664b2824 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:1ecc3887-9cf1-4e74-a119-ff3bdc096e1c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f0c0a279-bad7-4635-86f6-6e428de9667d phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5f66fde1-723c-4b5d-87d5-875d9f4c2570 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:dbe6a688-64d6-4109-81f2-acaf2ae194fb phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:39528eee-b628-488f-b5c1-e5c9d62063d8 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:aa4ae2e1-bc08-4842-9376-09268a808e1e phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:43f7e058-b00a-4f0c-9650-3749b7fc4ad5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:6879f9c5-f40f-41dc-b866-715ecfeb3dd6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:d3922f9d-1936-47ed-80d1-0f046066df52 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:c617b8f1-002b-44c8-ab1f-0263d9024926 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:eb7c0465-cfe5-4d8a-a6d1-cad8f5f160ee phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1185ceae-b9f5-4cf4-bf5f-874c58c97962 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4efcffcd-a8e4-4a54-9c5d-8042fa2268db phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c6cd1178-d4c5-49ad-8de4-ba4e688dc178 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:cf49dbc1-bb6f-4758-9bcb-edae2180977b phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:533ec0bc-b8ee-4159-96d8-6f4b297caba7 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:096baf44-d720-4fc1-bc7c-82dfaaa79185 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4427c451-b9ed-4b1f-9adf-4511a969db30 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ed04b432-57ed-4c6a-ba45-629fd53084ca phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0f9cef69-9ebb-4b17-95ee-51ab3604c97c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b58ccc28-f5ac-4569-b0b1-867c394e60b1 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:029e3fac-1152-48dd-a30a-dda022cc226e phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c57ef12c-a26b-4a39-b0e1-133781a1b21f phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:11018b19-2fb5-47f7-8515-173a4a35810a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:16ded859-0013-4f18-90af-f9d0909e4aca phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:7f2adda2-c4fd-4f30-b564-b3013b899bc3 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:96dec9a2-8150-4721-ad0a-8bb2f949406c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:74073829-352f-4ca8-a8e3-78f398375ab6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:99025cb6-fd73-4e7c-9dc5-8ffd8dc6d12e phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3373fb11-fa61-416c-92d9-b2657e70b303 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:2d3bc6f0-96be-4030-a7bf-4b95834b08c9 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3ce6651b-8b5a-4e38-8cda-9ff184cbfdf2 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b5b9000b-110a-43a5-a88a-311ba0559073 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1bb6f722-cf65-4875-887a-536b03dc0783 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0ac51416-e813-4805-b58d-8905babb5b34 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:25f23714-97d0-4ff4-923d-9ccd88537576 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:98635073-3db1-4756-9b7a-14fdc2db2c40 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:78c7f165-642f-459b-8551-0ad0701cbcec phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f3edc2ed-938d-462e-b9b5-56d23614c745 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:357abda9-4f9b-4dc5-83c9-849f00a466d6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:15038c86-a142-4964-8c4b-31b1deb5467f phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:bf76c6bb-61ec-4e1a-9f64-059e52864667 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1f7311e4-99bc-4b9a-81e1-494c5ef25be3 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:12f43581-f574-41b0-9272-377e9921a082 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:8e5a0e27-d165-4a62-8f44-b970961a2db3 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:2e9f7452-beda-438f-bf67-4b28abae3d5a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:3eb439b4-9735-409f-a1a4-761faf3033d5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ee9dceec-988f-4358-b96d-f16ce3891614 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:06f9b8eb-27c4-4e45-bc29-9b6c678fd083 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a6f9a335-832d-4c8c-8ea2-bde1ed9a8a21 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:76d5214f-bc5d-4f5a-8b44-43d9109571eb phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:878f21e9-23b3-45a5-8417-fff32f561bcb phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e24ce2a6-2e59-445b-af0d-bc782196d524 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:83f8fbe1-e7f2-45e4-b4b5-f23ed0381278 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:df63377d-f31f-4608-99f3-3462cdd1e274 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:2a878d3f-78b2-4c32-8824-1a563e3a4f2a phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:bf06391d-d267-47f1-9c5e-cd76ab995f60 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:e4ce4d36-cfa1-4bd8-a652-e1285ac1751c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:a9e6dbc5-7971-4916-ad4b-cf9614eda4e8 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f81d7634-f614-4ca2-9ff6-e15c6cfd597c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:935efec2-cc93-4459-8d36-7a47ac8e2522 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:34c85041-4aa2-43b4-920d-09b9237e35f8 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ddb80849-972d-451b-ac9f-ac117d58e22d phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8afbe875-c21b-48fa-9176-2214fcdf952a phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a76bf69a-3197-4f0f-ab95-ac9d8f82fab8 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cb64d7a2-87af-41ae-92e9-a29382c7928c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9df8f2ba-aafa-4076-b733-52c93b75b29c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:62fad726-2265-4745-affe-f02315325871 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:eb21dcde-aa72-4afd-a04a-f9d008e30c6c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e2321dc6-9f86-4a07-bd43-e78fc7cd8a16 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f179c0ad-a767-4f18-ab34-1faa9528d5d1 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:defa0f45-2afe-4e71-a43c-43178c97c0bc phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:054dee6d-2d22-4220-9f56-268131c76317 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e1253803-7455-4650-8dda-a78c28ae63e9 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:86512b6f-71b6-4e93-ab38-855bc30a3726 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f4be757c-b41f-42ec-ab94-1c1d0031971c phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8bfea892-3ebe-41bf-95ff-2bed07778b80 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:acfcd334-004f-4fdf-b3af-45b1f8d14c4b phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8a67461f-6db3-4245-9d7b-5ad8289ac740 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:a61edf07-7c5b-42c5-838d-42d18bf5613e phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:99286ac2-473b-4ce0-8315-93ef56e808b4 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:47e5cc0e-72ae-4ac5-b7f6-20cdcac3e547 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:88b83305-e2ea-412c-ac0c-39e28a74f1c5 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:622d08a9-16b7-4f3a-ad01-a5808ec3db85 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1023b377-10c2-4667-803b-e21f9bdc21c0 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c20c4a1d-0c2d-419d-9b6c-5eef2f702dc5 phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:cef3c55a-f3b7-48d1-8336-91752bb6c7cf phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:bfc5caaf-2397-4496-8069-98c89157bba6 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:6370724a-e9ae-45a3-b3ed-44048da61ff7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:9d226fec-aad5-4c9d-98d8-c38c2177262a phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:21177994-cae0-4533-a4b2-5c2451cfcd34 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:a5028f2d-7191-40ad-8bc7-16fbe5c404c4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:2de3bbdd-7aa5-4c4b-90ed-d84b725a7abe phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:9b9a5da1-7809-48e5-ad5a-abc1d2f20563 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:1be4a202-cf11-46fa-96e1-d339cb15b266 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:9c3fdbc4-8d91-482e-9501-c3838da123ba phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:c380e8f6-6334-4f94-8fef-1ce68e1f4e8d phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:3ee25def-ed4b-4a22-944b-e110503871ad phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:8e049c30-dc44-4e08-97e5-6c765aa94e00 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:3480f1e8-1916-4cc6-b9a3-dda41e6fcf6d phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:ace88e03-3ce0-48d7-8e23-11ee4055aed7 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:81fe7f10-3fbd-4984-998e-909152b0767c phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:fc0604c7-86c2-4152-a82f-802acd473467 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:982744bc-b252-4ede-a7e6-e93d8d15b8d3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:1890fd03-db42-4d30-afdc-0afaae7d9870 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:6a273b5c-3325-45b8-9bd7-9cbbbd71bfe3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:1d05ac3f-6ba7-4fb1-b3e2-aa591a6d67f3 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:b34cf255-f4cd-484a-bb71-30c998455e24 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:534bf606-fd77-4053-ad92-43302f8f8d15 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:80bf78ce-67f9-4594-8a07-61634b483364 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:644dc0e9-bb33-4583-a847-c80fdbbd7105 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:45b1c1c7-1d74-4a99-8385-f69be063999c phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:eef246a4-a3e1-4c4d-8104-9abedae5afbb phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:a0d9be27-fa4c-4877-b1b1-91da0708a7e0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:aec5da5b-bf28-4e24-8ae7-e9affe0ac629 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:e3886f84-f3f2-4961-99c0-4574caecf351 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:5121d29e-f640-4d25-970e-8793caa20456 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:b5a19557-e16d-4cf2-98ef-53e25b5a4504 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2498b6a2-977f-473d-afc3-eedfd997c790 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:c3beab0c-43f3-4169-b5d5-fd22949d4cbd phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:c0582145-8dd3-41bc-a7d7-d1517b1b8853 phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:1b41d286-b2c3-4a7e-9502-a3a9caa8b25f phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_phenotype HP:0001928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:886b47a8-d4b1-4928-9386-28d0ab7d1d5a phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:0d80986e-8439-4964-9e6c-a597534448bf phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:f4cc0f25-7e18-41d2-8085-9e11619ea44e phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:a2cb2e25-d98b-4b6e-9cfc-897fc0d9a226 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:fea4039e-2e7a-4474-a3a1-225dabc82840 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:3d68a566-5aab-49b4-87a4-cb4708fb1930 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:0e08c456-481f-42be-87b9-ac94ed7581c8 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:e7369617-5deb-48b5-a66c-f1dc2ac18a8d phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:aaf34650-d89f-469b-9c9c-33ac0f63a577 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:4151ee03-b515-43c8-a59f-751d1639346a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:933f0d69-b225-401e-9c9f-1ec775b5fe26 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:ecfa672e-c736-443c-bc6a-9b7c87f83f35 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:19ed3afb-d7f3-484b-8a93-c87f5b198603 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f4ed2edc-795c-49a6-9f8f-df185ad2eb1a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:f1349b35-169c-479a-a983-4b33d6cca3be phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:fc37468d-384f-4253-aa66-55e150c95aa5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:7fbaaeff-99c3-4401-8617-5b4f34c43c76 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:5710c6a9-d552-4ebb-b1aa-8c432726e8aa phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:112c6d8d-a2a3-4f57-abfb-bbd632e32d91 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:30ea92ae-0e6b-447a-8fa9-31490429515a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:98eb8692-741b-4b4e-919d-bc1c421582cc phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:c1ba6642-a9bc-4f8b-86d0-2534e43e5be5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30859559 uuid:67ba2a44-1909-46df-bc8b-f94421df016c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0005272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:5f34f7c0-9897-400c-8432-01f1c71432b9 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:65e293c6-1b03-4f95-aaa5-ca6b39469084 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:1e7c28f6-5303-4a0c-983e-e57815d3c2bd phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d94a6013-b849-44c8-95dd-2e9e3a2dd7e9 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:16f5f951-b9d0-4dfe-b7d8-9cdcd308a588 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:07b1ee32-d97b-48f1-a137-1229c78e256c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0897c16a-17c9-40ad-aa42-d28c69f316e9 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f55b5296-acdd-4b54-8b55-53360df75c56 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:2f4747f1-2fce-42dd-a1f8-cbc22b49dcab phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:a039d9ed-c58c-4c79-a781-163ac31ad962 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:99c3ddf0-d8fe-4c21-ab39-6bbadfa8b471 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:7ec3b2f7-d3ef-43d2-a505-e87b7334621b phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:f3ba243b-eec1-45e1-919e-0078c04d23e7 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:551f27f2-2cc5-4626-ac51-e57cab7aa0f1 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ccdb95ee-8d40-44cd-9fe3-70ac9b401449 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:4de52caf-7e07-4fc2-95a8-72f8376f4102 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:68c13aac-edf8-4734-b927-e0d2180f11c5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:25dd8714-28ef-44ad-ad6e-ed751b376ac5 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:32c2bc66-00dd-4e07-b0d3-2411c3e971b2 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:6bae0799-58db-4794-b60b-d5fdd4d970ce phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:478f5c1c-fdf6-4e2a-9f3b-0c724028b7da phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c36e29df-55f5-47d3-b4b3-e3a776bed109 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b164c8c0-7538-45ee-a193-13eb317e3591 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:60bc4ad8-313f-4a95-92bf-92addb8c3ae4 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:0a445007-94c5-4f02-8b16-bb09bf30232c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:b77348f7-19a6-4a33-86f6-70dba40f8625 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:56578fd3-a76f-4eaf-af77-0249decf546c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:dd671a37-5bf4-48cb-a02f-5c75bfa76d34 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c0aa36ec-382d-4acd-b26a-1079d89952a7 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:64ca924e-0302-4af2-a4b5-9e95b355c80f phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:202c9000-c4c6-4ca5-b76e-6f0b2b762cb6 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:06fda27f-6ccc-42e1-a018-11dd5c761e97 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:d42fa784-7b0e-4a0c-a096-5a18d5d39d09 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:c5391af0-6192-4359-ba68-2324da3ce209 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:25ca7678-a8fe-4de8-8625-5585d0332d35 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:ffcacf81-3cd2-417a-be5d-ebf7b132194a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e363f242-72d6-4fe5-bd8d-2a92541dd34d phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e52fcaab-d4a3-44a3-8682-2f245d1a0cec phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:de7990f6-2d2c-4a58-a080-474d942a8485 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e939ddf6-09c9-424a-bdfa-d8503e4a736b phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:9055cab0-4af0-4d10-bc87-67a0dff6262f phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:47d156ec-5ba4-4d43-80ed-24255be6963a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:162660f6-1ff7-4b42-8299-382ef9a3d09c phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:e282630a-18a3-48c8-a1b3-7be6de008438 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:43e78c9f-54b0-49ef-a76b-477f234489e9 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:024aa4f2-fd59-46ba-bb86-b56743900f36 phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30859559 uuid:01e3369d-5192-4480-b67a-2043dab1ad8f phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:91303f0d-ed16-44b4-832b-79c8303eff8a phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30859559 uuid:7ad5716d-ad52-4a1d-95e6-2b270779c4ba phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:cfb1e2b0-1064-4d58-ac7d-702ac1f1e55e phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:0c9a45f3-b8d1-4c78-b127-33293c5170e5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:f778f54e-12a1-4695-adc2-9e8f36624031 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:da753dc1-b401-4aab-8d35-bd17fb2644ef phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:622fdc00-c340-4e4f-8d57-418bff5b5520 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:c6adaeac-f277-480a-a9a8-16a0bf13cc90 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:167cee5e-ee69-4796-b88d-f4fd86b52bdb phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:450b08a9-37ca-47ca-a34a-4ecd873998bd phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:12477d34-c27f-4046-92cf-adc239e96345 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:d24e0442-54d7-431f-b67a-56db8564721d phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:d178de31-746f-4202-978c-b325f60dd3c2 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:8c409da8-e33f-4858-908b-d3532aa70f99 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:b70c8db2-8d85-485e-b623-2ebb4dae5e24 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:6ac92ba7-7a95-4e51-b83c-9cbbf9249000 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0007517 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:b60a2f99-c0f2-4e49-a730-ec268a6867df phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:daadfec1-107e-48f1-be5d-2bb5db0718f1 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:352c5064-4d0d-4d0b-b95e-3e2de66d49d5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:022ed2ad-d99c-4f33-9a67-f5d0123c2303 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:a2bb8259-b9c3-4423-81fb-9d4cee34507e phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30368668 uuid:e4b849c7-5a25-457f-8364-2c339b3c418f phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:bdb90c19-7cc4-4bbc-af79-deac7d7e0de4 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:cf8929d9-53aa-43e5-a944-ad0740837d6f phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:db30e63a-353d-4699-ac67-040727d5a474 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:488e69c2-a987-456d-8eb2-e95a761cedf0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:35124d48-4a4d-4bd3-9757-afa965652d2f phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:5eced6b4-9640-4c6c-b2dc-357290d5359d phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:bacd3648-1d4d-42e9-bd23-61ab4f599916 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:ebb09eb8-9acb-46af-9598-6b2cb0ec2553 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:44791b6b-f5ce-42b7-9b0f-b8ffbad2ecb5 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:d5f389ae-3937-4ce9-aa34-c8a5c44df297 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:fa4f25dc-30c5-42df-bd53-e6b75b993386 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:2a2a5c8d-1959-4cf4-8074-120afc26eeb9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:6515365d-40c7-4845-bf60-5584b015c7c9 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:55f2ff84-e57c-4c22-b93b-e0cff1384cb0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:6615eae5-6bc7-4327-b54e-d2c17adb2459 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30368668 uuid:7f1eda4b-afca-4ff8-9e35-ce7bb1f851b0 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:b765c26f-e055-4902-bcf0-a341e8834a84 phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30368668 uuid:d887e130-fedc-4ac4-96e0-174298747ff6 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:6b61a025-9532-4034-8df2-862f5ff95b84 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:34fa7b0e-1370-4c89-8410-07abcf8cf5e1 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:6b2e4edf-a026-4016-8fe7-b2eccb356bbd phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:628b9ec8-6f2b-4bd9-98d6-dbdedd68fae0 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:c5bc206c-4bea-4572-ab33-5771a9b4a568 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:c98d6d92-3ffe-4d90-abfe-e79b73609a6e phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:dc0a77dc-24e0-4079-aa06-6cf9e16e301f phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:5158af33-dc50-4b8f-b22f-6efe2c6ccd53 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:e55d2782-6a5e-43a5-8e57-863979e02c76 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:076f7d33-7ccc-4858-9c86-cd935527f992 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:d7303943-777a-41e3-ae2c-839b40b98a50 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:ec4b1cb8-43ec-4503-bfd8-6b837dda46a2 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39003740 uuid:03101046-a8aa-47ff-af06-c8e1ab75b2a5 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:4e9e8e0c-d7da-46a7-8794-f6c7c7924dc8 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:1e097e01-2d30-48d4-981a-952bef2ab149 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:8fdade9d-21c0-42bf-b589-5b54e369a6db phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:e26a02a1-6ca1-4e54-a3ac-8f5630977883 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:553ce560-cae7-4b83-9f55-fba957dba381 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:0e1bcd3c-baff-4afc-bd12-8499c2ad391e phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:158b3b7e-89d3-4f6b-a517-0a178dacf7a1 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:d4719223-7e7c-4a62-8303-3c09fee682f7 phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:63cef4b2-8f4e-4e39-84f7-03ead71de89d phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39003740 uuid:12130fc3-b1c7-46b1-bb8c-82ab2ce7c9bf phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39003740 uuid:b03a3425-1885-4168-a84f-524c6941f8bf phenopacket.store:LZTR1.PMID_39003740_patient biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39003740 uuid:aa998ea5-716a-4332-b148-d152db636ce7 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:136c76a8-4f05-4bd2-8cbd-9063528988d1 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b0b4f952-77fa-40f9-8bd8-a1c20aec553a phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:3631b364-ce08-49c8-be8d-534ea1c06757 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:6c234be1-3a65-4ac9-9546-4d80e667e862 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:740b602d-43ac-4359-86ba-cdeffa5c09c4 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:26e4429f-1b10-485f-b977-9c5b84b3cb16 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:1cdcd86a-b948-4867-8210-453b117abb52 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:161633d0-2ae0-4d97-9099-b7896647d3d9 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2d5e4074-f8dc-4f7a-a60f-ae0086e5d958 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:0e731a91-005c-46ac-bd27-3e068d0de217 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:d59764a9-07dd-4db7-b84a-f1b297bc1b0b phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:11207ae6-0572-4c8b-be1b-e58f30981381 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ac399621-9b2b-4269-9925-4957fb0ce97e phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8d7c7ddb-5738-47de-9091-c02864f7d289 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4bd556e2-9f60-4508-8850-b1e0583640d0 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2678bcfe-a600-48e0-84a9-61d7a85acbfa phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4d46db3f-72f0-42f8-ad64-c3829329d758 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:87c8c28f-e878-43cb-a4ee-fb75af40a34a phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:93277159-cb47-4e46-b162-514a86b5c682 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cfe6a544-526c-4ac2-9fdb-483160a8edf7 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:75f9b937-7ba2-41f2-99b7-232623f8ec85 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5113ed78-42d6-468f-915e-e6370c089374 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:40c8eadf-b89d-47e5-a41f-1166607d2ba1 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:60161b78-b29a-4d9d-be4a-1c3bff0688b6 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:122700f6-5212-488f-91e2-029d3db6d644 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:913d92a2-bbaf-427c-a53b-d549681c94aa phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:c63f3f7a-9169-47ec-a2dd-8e22b544065c phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5d668967-96e5-4b60-a71c-5665de28db39 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2b3fbed5-3ca9-415a-b845-629ddcbe9619 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4170e49c-0ff0-46ca-80a2-dbb1d39a5ea6 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:082bf285-b803-425a-b879-b4aebe735cab phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:cd6e085e-addd-42bd-88da-94d6da2272be phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:02e6280d-fcaa-4899-bcea-6ad8286915b6 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:84659804-e2b1-4337-acd5-637f8eabcb57 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:0ab41675-abf5-4e17-a3f2-86b91a1644c0 phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:758f2b39-74a3-48f8-beeb-fd78e15f01ef phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:f4bfd953-2790-4bfc-9fb3-e25697edc196 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:7b0849f4-4bf5-4aaf-9bd3-b1a66506d5d4 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:3d859d63-92f6-45b9-8b99-f4de69916634 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:2b1da66b-6d52-4265-a723-20da8deb2768 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:9b2a6ca9-c64b-4ddc-9195-086d51359e4c phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:c28a0818-a98e-4b99-913c-26c663a5e811 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:b4b1ffb8-522c-448b-b1d5-fab2ec5b8b4a phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:faa76c5e-cae7-477b-a8b1-979001971a9a phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:6928577c-2f68-4682-b825-2db993fd1ce2 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29469822 uuid:9271a4a7-745b-475c-9ffa-52803f71b4b3 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d71d5636-af14-45fe-92c8-4d57d5a10f71 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:edfcd0ca-d3c8-4544-967d-ebfb37c80a2d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:78e428f1-2c39-4044-9aa4-b1fff750fc6b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e4ee8485-4a80-4ff6-9b3b-3a53fcf0c9fd phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e026106c-701c-426e-abeb-60990d135e9d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:23541947-2db8-48d4-8cb0-bea83261b490 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:e842df52-1028-4571-90e0-1defb563c768 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:ba8b72ac-7d8f-4a40-8815-63ba41dbd340 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0006721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:9980183a-983c-4ab9-aa23-b43814f21102 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:4ecdb918-1cc2-41d5-86b0-d6fdf9f9a8a9 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:60ded25e-caf3-4746-ab0b-5f7f35252894 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f10ffe2f-b080-46e8-9973-30e96badfda0 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:79a851f0-1030-4626-8187-92adb192e267 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:d3a878d9-95f9-4c28-b284-945e47a0f122 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f5ff9a5f-69c6-4f43-aebe-bb8659a1ffe4 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:60f413cc-8508-4ba1-9ba2-d8eab3629878 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:98862dfe-d66d-4a9d-aaf0-a71f58a8beaf phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:03f04aa9-6e83-439a-94ec-ee6573541c4b phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:62662874-4e72-4b2f-8537-592fbd968fd0 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:49a46f37-989b-4439-b380-04debbbb0793 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:2c38da26-53f0-4a3c-8e2f-1ac83db3defb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:3cd92e21-d258-43bf-8941-54868164eeb5 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:6ea93c99-95d7-42a0-ab4d-4701e04258b8 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f401f1eb-4548-4cc4-a225-75e1b247539d phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:adc7fe5e-f86d-4ebf-a384-0c1327ca26e8 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:f1f0e80f-b3ac-4972-9627-16d924eb8145 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:99969e37-8220-48e7-89fb-b1eef93e4697 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:5c845b82-5a3f-4192-8be1-cbaeb154fae5 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0001790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:8918cf0a-5bb6-4ac2-a9a7-2afbe9a2e517 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_phenotype HP:0005684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29469822 uuid:1640da8f-fae3-4116-8d19-b2fa037ee9fb phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_disease OMIM:605275 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:5dfdd623-b878-4a46-b14b-eefe370fb451 phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:has_gene HGNC:6742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29469822 uuid:804b80cd-1499-42f8-a534-6273e4c04f12 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:ecdb20be-5bf0-4e9b-9742-9eaeaaaba7ba phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:cf27eb78-9655-4e8f-b47a-2966cd79de3e phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:937c38d6-8e5b-4596-b663-440c5a44c993 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:7aa18f53-164d-44e4-99df-40775700f464 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:12ee81b9-4986-4c2f-9aea-2c436e0863dd phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:4278350a-031b-4ee2-a918-ccbcc0ac2d2b phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:da839c6a-3475-45a8-9f92-cf208a6adcab phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:2e9c0150-3445-47ff-b168-87995900f959 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:86dd2626-5308-4677-a4c0-5522e4b41a74 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:e5e3c9f5-760f-42e7-85e3-fcb43c8143ca phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28482824 uuid:db9b7c9b-6843-4c76-8467-7b032c777497 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28482824 uuid:bfc9aa1b-230b-4152-99b6-a4aeab766678 phenopacket.store:MAF.PMID_28482824_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28482824 uuid:67897436-7bb9-4858-a328-c25e9961c932 phenopacket.store:MAF.PMID_28482824_proband biolink:has_disease OMIM:601088 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28482824 uuid:85a34970-98a7-4d0a-bac0-2cdcaef9efb5 phenopacket.store:MAF.PMID_28482824_proband biolink:has_gene HGNC:6776 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28482824 uuid:c04d004e-c9fb-4f57-b9cd-9e56d40fa3c7 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:33500254 uuid:99ef1034-07db-4089-892f-444afd7542ec phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:a929b5d6-93d1-4610-b320-e63b28d6e93d phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:c5394bb6-e7fc-43fa-bcdb-e8f50e6f4048 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0031098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:71b0e89a-8546-4a2d-a0aa-97743f114864 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0030344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:06a0e6fc-a578-4628-8515-94c20f23ab12 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0030341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:f89e5ac3-2383-430b-9767-0f511c0322d0 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:58632483-3898-4d93-93be-3a66c157bd09 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:b00ba14e-c287-48e4-b292-1dd3240aa321 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:5555fb8b-8c29-4ed4-88ae-927bf331a9d6 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:4ea6a1ad-b1f2-4f98-a405-241c8792b30a phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0040075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:e50c93f7-7365-49ea-8316-e1e07ccc01a0 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:7e5c254a-519b-4924-abf9-74df7b256904 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0000815 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:64e2e38d-0e4d-435a-9c39-2f7f39a9b2a7 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:e59daf0a-e69c-43ac-8a4f-0c1274624339 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_disease OMIM:620651 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:33500254 uuid:da247e82-ddc5-4430-99bc-88d142ecd830 phenopacket.store:MANF.PMID_33500254_Case_2 biolink:has_gene HGNC:15461 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33500254 uuid:584d2be2-a247-4489-97b7-942d653a0345 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:33500254 uuid:b73a8793-7b77-4b15-ba14-901ef8ced84d phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0040075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:10471fe3-8e2f-45e2-9542-83f762e5028a phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:bf65f6c3-bcfa-42a5-83b1-8f9d769a3822 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:9fc92d4a-c08f-4b12-8060-dcc4efe08208 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:47e9e72b-81f3-469e-92ad-892e1b97dfdb phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:0a90c9a7-532f-4163-8421-046ac4dcf372 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0000815 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:26c01662-45b6-4de4-a3cc-2c8b4755797c phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:ce80ea43-04d0-4e21-a587-8f364421b23c phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33500254 uuid:0ea2aa11-9ce8-4a0b-99e2-d93bf38fe87c phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:4d18726d-214a-421a-a1ca-195c157df94a phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0031098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:32116135-8e54-41cd-888e-591fe90fca51 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0030344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:00fa75de-c7bb-497c-984b-89c3a71ed490 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0030341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:05d24a55-4a76-4851-a41b-1fd56a760ccd phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33500254 uuid:3c7c0594-28a3-4fb9-9b0a-2ebe602a5a2b phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_disease OMIM:620651 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:33500254 uuid:2c9b8987-83c3-47c0-a7f6-f2a744c05564 phenopacket.store:MANF.PMID_33500254_Case_1 biolink:has_gene HGNC:15461 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33500254 uuid:58c3a838-364d-4d75-aaa4-419eda4502b9 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:25406581 uuid:8e1060cd-b74f-47e4-8a49-e6a956cc270c phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:25406581 uuid:4b06beef-55a0-47d4-bfb2-c70cd3a58e3f phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:25406581 uuid:6a20820d-2222-4163-97c8-89032303390c phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:869e841a-1085-46e9-9bfd-f3bc8a8b450e phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:d71bc44b-41b4-4989-8210-ce931b962266 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:b4b39e54-1c89-4f47-9f85-e72c83460e49 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:ed39069d-58ce-495e-bfa5-0faf1189b154 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:e04b7de3-79bb-487f-9f65-e9329bcd1f84 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:c2dc7385-5875-4373-8284-f8f8157893d1 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0005404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:72d95d82-748e-4180-a102-d75c25047a13 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0100828 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:bfa650aa-6f3b-49c8-a818-5a23e44f587b phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:f41a2da2-e300-4638-bfda-c00141bfa87e phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:fdddda7f-4908-4643-84b8-7261b4d9c030 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:194a6027-191c-4b1c-9c5d-d2fea1455524 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:f6cfa43b-2dd9-4fb1-8ea4-ed600548b586 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_disease OMIM:620449 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:25406581 uuid:e634f89f-033f-404f-a750-0f2543e8f6d0 phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:has_gene HGNC:6853 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25406581 uuid:03da0588-d0e6-4b5d-bc85-cf4c44d58cf3 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29230214 uuid:b77fc324-a072-490d-b361-6ff3f106c010 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29230214 uuid:86fb5a4a-c7c6-48a2-8838-f7d03f0d2808 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230214 uuid:a6ee2141-eb98-46e0-9822-058d8e0a0233 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230214 uuid:a18a86ce-a91f-4c04-a288-fb842560b704 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230214 uuid:e9afaba5-f420-413a-ba73-a62c9c11ed24 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0005404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230214 uuid:e2760962-3a91-4af7-a821-f6b21ae0a6f4 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0100828 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230214 uuid:6c27ede5-bd60-4f95-b295-e9032fb9fedd phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0500271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29230214 uuid:e5decf3b-0132-43fa-8151-dfeb426af66d phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230214 uuid:06b341be-6fdb-4726-9a3f-76cf2b62ab71 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230214 uuid:512536ed-a109-41a4-937b-f4493c43eff8 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230214 uuid:8b6cd843-ebbd-45fa-ac15-a1520496ecd6 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230214 uuid:c04fbdf3-9ae9-4ec8-9bb6-894546f2fe30 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29230214 uuid:7112ca04-02a1-4004-9ca4-79a12411bd86 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_disease OMIM:620449 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:29230214 uuid:908c56c9-0ef8-4277-b30b-c1955de11ef3 phenopacket.store:MAP3K14.PMID_29230214_proband biolink:has_gene HGNC:6853 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29230214 uuid:322a6e44-fd99-4796-98bf-451c8412f964 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:25406581 uuid:8515e839-297d-4146-9a12-91c61c345234 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:25406581 uuid:ae1605be-8bd1-44e1-aa92-c71d46bb4115 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:ca0a6d5f-a533-4f5f-b85b-ac7a96431b8b phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:1c9713cb-788c-4055-bbea-b50e5b970b9c phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0030388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:6241c0bf-6e2c-4941-b2e0-abac1b043569 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:cbe2ed02-afb3-42ad-90d4-6eb89ad9fc0a phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:6266b939-77f7-4018-b7fb-dafe7cd5c512 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:86537e42-5b55-4345-b5f7-9fc12bd04f03 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:e156f33e-4f40-46f6-8880-caa6b4a93e2c phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25406581 uuid:cd891c4b-678e-42ed-b76d-3f1fcf47cc21 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0005404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:7af8fee8-a19a-4ce3-a604-62c12172cd5a phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0100828 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:fc0c2920-8cda-424b-9933-7ea69e309f2a phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:6c605b70-d315-4f51-a567-8150792e2f0d phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25406581 uuid:adc08d7b-6508-4d2d-89c0-ba28412ac6d1 phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_disease OMIM:620449 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:25406581 uuid:f4323161-b247-4bff-9d3d-f53d5c81376f phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:has_gene HGNC:6853 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25406581 uuid:469baa0a-763e-4bdd-95fe-4a6418a29307 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:30612693 uuid:8003c12f-e421-4617-8fa4-26b315200a59 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:6379f7a4-c1fe-4925-9732-e2c02361b4a7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:7854f50c-8e43-4a1a-9c14-194dcabb5a60 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:036ce24d-a2b4-481e-9f0d-4277b7d4896e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:33473b3e-8fcb-4093-84f7-ebcd440af962 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:7a370d40-6e11-45e4-98b0-8ebb5ae8f8a8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e5f1e513-3a95-472a-960f-53efea0afde9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:4c98b4f5-1151-4a08-ba90-7a30fce50a05 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:5fdc1e50-1e52-4a63-98cb-456e82ded82e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:fca24aaa-de0c-4b75-9b4f-cd48fd1ce6b8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1d9bdc3e-d91d-4fa5-9f79-376f504717b9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f619d0e1-81c3-4481-892a-2875c411835c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e47197b1-33b7-4b31-bd3a-a58b1a50d59a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:702587a8-1769-4618-8dc7-ddaa61e322fc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d70b9d57-5153-4b36-bba4-50f6e8041a1b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:54f60aa4-1e5f-44c9-81ff-dc9142fd3a01 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f36d4306-d057-4e3d-94fd-5aa567ee274f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b27e893b-10d4-4500-8b7e-ec32057cfee6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b69ac1e9-b2e8-43f0-a6a8-4ebae61a3a27 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2b2efb63-806b-4782-91e4-89c08167382a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:54ac4f50-83b9-48a2-80ac-74da3dfacf57 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:47152c9e-dab3-4117-b213-5920ba4fe65b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:fb56f662-4555-47a2-8c76-c3a9d1d665b4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0e9962a7-b302-4abf-9520-d7de8f06b76a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f3df2d72-c6f5-487b-a5a3-c62459f1e3ce phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:61c079e7-f917-4bf6-842f-0eb1fea95751 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a6c7c4d0-ea8d-45dc-b572-ce065ea5a1fb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:58dc04cb-7e9a-404e-9607-c87d45ed8dbb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b8cadee8-520c-424c-8ec4-8752ee5331fa phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e048329d-cde7-44c5-8226-c4fac1c07056 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d6296f6d-10c4-422e-a2d9-d87bd2a00490 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:beca3ddb-86d7-4ee2-818e-9ed5d59fb37d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8266d9bd-7f9b-43c0-8004-dadfbe6d808f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d9a46ef1-f722-4011-a650-c633ff24d535 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3d62d06c-a0eb-46c2-9b32-ae6d59a55257 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8c274953-b190-40fc-bfe9-3bc0a3ee3af9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:bf1be3fa-9795-4cef-ac6d-2967ec92e2e0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f95f8084-3047-49e7-ae6a-0b55a7b92647 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c08e6c54-f89f-4544-83a8-0985114fb6e1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:323a3081-b4f3-4e49-8cf3-93d5049b630e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:adfc5d7c-f33b-4fd7-ad8a-c49a7de2d624 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a3c1b7da-1923-46ff-8bea-b550b855663a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:555ff851-0acc-4c7e-9057-71029325d64c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:388ef5b7-e461-4833-96be-62becbe17915 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a1bd5752-bedb-40fb-86b7-a98ee7617b7b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8184c60d-76a5-4f9d-a030-c7b36cc2b047 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:19852061-d24b-44b5-b29e-1906359bc845 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c1c5d044-d14a-48ef-9079-aec71fcde985 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a28f963d-ffdd-416b-988a-81e9512ec5ad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c8c59438-40ba-434e-9b6f-f3f76bf7203a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0829c86e-5cdc-4a76-b66e-c3f66bf08b07 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:49348232-01d0-4612-aa84-270eb5bc97e3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:111ae301-2ff6-45e5-9606-fdc4f052bca7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4b99b331-a1c8-4b48-95b1-7c8589929ea1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:04d0ed0f-9fc5-468c-87da-0d82fac4c7f9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:4ebc0cda-c746-4ff5-9dc6-77493cd84e39 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:45bd4d00-e7f1-4052-b41b-f0f52c039db6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:4d21460f-704f-473e-8239-46a2293e0667 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5ac4d494-39d3-43cc-abff-697d7faa5999 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a96bcba3-d7ba-4c47-93d7-52916c67bea6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:74a32612-c198-466a-82b6-2e6ea0e45900 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a330bbe3-f3c4-47fd-9c46-dca86883ad4f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b1ede13e-dfe6-4eb3-822c-722a7506717a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cf58f951-1e81-427f-90af-43179ec8d76c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e32dbbe5-35dc-4480-8518-a47b6ba30808 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0a9c3d19-be4f-4911-9483-1bf3969ba22e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4dcdd734-878a-4c19-b7f5-a419729b15ec phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6f57f504-5404-4c18-84fb-216eac9984d0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c9e486a2-cc35-41c9-95c5-3c51ab6f78c2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6b8ff5ee-f701-42e3-a3a2-521b422ba42f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:80326848-ad43-41b1-b285-dad458a166e0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:30fe4ac0-9dda-4027-9e17-d7f0b38693a8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4233c339-cd20-43fd-a9a8-d9a58f255356 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d2d0c929-e230-4083-b62b-4e461fd2462b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3d083158-5e01-4e1c-8fcf-eeab30f784bf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d9784e3e-6e9f-4d7c-84ee-624c46b30a4b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f87f74fe-a3a8-4076-b094-880ac4f0d76e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f2909a01-f217-4b78-967f-4e1c22379087 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:05483dfc-a324-4279-9e83-bc3511cfe1e1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:75f4cf7a-3241-4f7b-a22a-a58352361213 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7e75f62f-4c46-4896-a51b-a8b9d2e111cb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b49ddee2-ea8d-4a15-b38d-dfadba261374 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:805f7ed6-4824-4548-acef-f1396a0ddd50 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:49581a9f-5438-4995-a3ed-81e82df79c22 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3a73cd1b-4fdf-489d-a70e-34f500589412 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e9e2a967-8ce5-4037-8f6d-6d630920a461 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:80ae1fd2-3a46-40a4-af58-a0612ed646b6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:369b1f99-6834-4a67-bff8-1275dfeedf73 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0987d0f0-fc69-401f-b1cf-a5dafdf5fc7d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:afb9eb91-212a-4662-b84d-e1664bb88a1c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:59eab338-8f8f-4629-8245-499f5e46045b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0300607b-b648-47a2-b6ac-330e3d5755ea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:656a1296-f68e-46bf-a6f2-deb7f147f1d1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2424ed8a-85c3-4211-ba07-f74d050615dc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9ac85b65-4d31-4561-affc-b95937185ac4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:13fa4d52-054d-4424-b2bc-dfeb55a352ad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d758f860-06e3-4090-999e-0cba85a810d5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:80b2c190-2243-4944-8341-64579b7d7e25 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e5f5df3c-95e1-4374-abff-c38b16f52b4e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ad6b6fec-c0e5-44c6-8ed6-b83794cf9467 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:73b0baf5-6ef5-453d-9b57-cf57c39e3837 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c0563e6b-7602-4ba0-a937-e5a09d81b10e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:195ca9bd-7a13-48d1-9ed5-bfb07150db29 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f2630262-e979-4f33-8821-c97225ef552e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:26ef2ba4-ab0e-4e97-ab81-ddce6bae1def phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a457b9b1-6a74-4a45-a560-d7e796ea49c6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:63bf8c85-7f26-4fe0-9e06-2cb06f8f11df phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5a261e29-a6f1-45ba-8896-b51900e83c94 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1cf9d437-f76e-4d9e-bd7d-2463ed1b447b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7cd3e405-bf39-44fe-b823-5ba7d7cd2978 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:db9a3385-827a-4539-a4c3-473a34dddc56 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:90a301e0-49c6-4333-b30c-9cbb3ffbdf90 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34321325 uuid:f578f2c1-8f14-4ff6-9f5d-c3b78aa86cd4 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0034183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34321325 uuid:63f2565c-640c-4f03-8660-b58e8b99bb0e phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0006872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:ecf4e478-c453-479d-82d7-be1d9ecf0c41 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:6583d27f-4c88-4c90-a57e-918ea885ad5f phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:e3785e5f-3aaa-4806-a9a7-d2576cf1486e phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:1f6b646b-802b-4f00-a55a-8f1b7b07d191 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:74300ab6-e564-4f4a-ac5f-20c2dd09a5cf phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:753cb293-35df-4c27-8da0-1191b949b1a7 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:7d3e48a9-baf5-4123-8c4a-c5d78075819e phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:5fd5fe31-a4ff-4ade-bd87-47d9c742c785 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:fe1289ad-2557-47d3-89a0-1a02c9698c6e phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:2ce92a4f-63e7-4e4b-919c-523b9bbfead1 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:4eb2d2bf-c3f0-4bc3-9cda-abc99b5b916e phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:0d13aac2-6223-49a6-a784-ef336272064a phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:b4e719b2-cf23-4a50-b43f-aceca8732fe1 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:d81f6b5d-0518-484e-8cd1-381efcb64be2 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:ba739f2e-acab-41b6-b0c3-1a26e9d96755 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:804308f1-0282-4296-82f0-15d88614eb1b phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:68c7d879-7255-4d4a-a33f-f6f03a831665 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:efbc4093-709f-4ede-8c60-3ccd3c1d6a62 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:6f40a60a-e63f-446a-a0cb-450a70ae1524 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34321325 uuid:d04e5390-51d9-4681-9288-f9779dfe04ec phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34321325 uuid:5c7fb73b-cb71-4593-8a71-5c98a7563a02 phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34321325 uuid:25a75579-0f24-4ee0-80a2-52c6ab60612c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:612f8065-0be8-48de-a321-a050eea5cadb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:844f1dd3-1294-44a7-a340-f9142112cd27 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:b4e253f6-42fd-4bfb-926c-da2b2c7d888a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:d7434999-51ad-4fb7-9f71-82f2a3f0521e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:59881e9c-edd2-4c30-9300-d868dca63b45 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e625820a-95b8-49ee-87ea-e2c3994ae5ff phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:0ddcada0-5a28-496a-9d58-40b25376c656 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3eee93cb-3cb0-43a1-b1d7-fa1d9bd9ae7c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:651041d0-a59c-4b9b-a763-bdc87e8f80b8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:252da70b-fb9b-4366-ac3e-a859c17d2a89 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b73396da-1889-4797-883c-9d57cca0d041 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:81b9d9df-07c4-4fcf-a3c2-def22dd42e7e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6590a5fd-b46f-4a32-ac9f-4f3be8ef2532 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dafba44b-2fd9-4bf2-8ea5-99f582d4953b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:46634a09-4843-45b9-81be-39b78d0df051 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d171dcc7-a68c-461d-865c-cda7f3b48202 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9c5c4dfe-ad3d-4a7d-a0d5-e0559ee1ce58 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cf6d83e3-abed-4c25-9fce-3d428c8265ec phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:eb08e445-cc7b-46f8-8892-290c6cf6dd1a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:bca4452e-8a26-4838-9412-e2c029b6d8e3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:70be9e10-3066-405f-a6a4-4803c1b042b8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9e3eba86-7501-413d-9f3d-abcffe987435 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:70e1c7bc-f28e-4cfb-a0fb-95de3996ec3f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:14887e0b-f719-4fa8-a1df-63083e83767b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3f613eee-a2cf-40b4-aa20-d250c49500ab phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ad69bda6-cc7f-4400-af73-c5fbc1463849 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:53b8776d-7742-41be-a6ab-4e0323623224 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a6fe0eff-0a09-4f83-8d25-1f534a02b93c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:45c71f7f-2f18-4df6-ae8d-473e431d17e3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:157cd7e6-a2a4-4d36-ab63-696f66093308 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:415b4dd4-ea7b-4c7a-aade-2a815420547d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d47b8faf-7363-461a-b0c8-04c0934d9616 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f6ea7510-a830-4c2f-9e41-d3a45beffe58 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2e62032e-a980-489b-aa09-8d438f91af82 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f7ddcf42-4987-4721-9749-cbdb4ad7bbff phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3b81c02f-bfaa-40cb-9db6-e4ddef393a0c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:60f7a7f9-fd78-4507-bd62-f775acca5efc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:85749b08-fa07-4a81-a797-d32965bbb88a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ce583afe-e7ad-457a-a547-cb1585c06d8d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2f9f9563-741f-46ce-b564-de6fb4013050 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a9b6340c-e6fd-47f9-98ee-37ed4e239fee phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:df0b98d2-af24-47a8-9b1f-e8efbec7a3a6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:07c3ed85-4ac8-4fe1-a35f-aa4cd8e3928b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e5f50440-568e-407d-a0cd-28a612e87d28 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:452fb8c5-ce35-40da-a3e8-7d4678d861d6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dd3b8b37-0be4-4b39-8353-93c75a083ccc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1cc22393-cb5a-4c33-86c4-9f0caf143481 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9c488fb9-0ad4-4b87-8fbd-aec3dc9cc0c0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:52165ab6-de3d-47d9-8ba1-2f3dc3b5f972 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:eb10ce24-3813-4959-b5d3-96ecfdbca0d1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:518bf088-85c4-4f5e-8578-559dba58aa0c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cd182871-d8ac-4ffa-b4a3-54e53b683690 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5a7562e2-c303-4a8b-a80b-1e618623ed3a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6ce6c335-2dd4-479c-a10a-af2805e51987 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3d1224bf-869c-418d-b054-dfbbacb66e90 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:b655b3b1-c83e-413b-ab68-3bd1c0a2f053 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:52530bca-c290-4572-9f3e-ec70829e1687 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:98fb10b7-c213-489d-a45b-23fc25ad3533 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:5b887f13-d3e0-45e3-af58-21c44e3ca402 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:02e5e9fe-3851-4dda-9038-392e0ec5038b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:cfbe64ce-a934-49ff-b6bb-c64124664bef phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ba254ed4-3e8f-40e3-8e9b-c8eb41b1b9bf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:093b6315-e112-4104-a1f3-d1029219e04d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:54857aee-ea40-494d-ad24-3136d83ee56d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c350d9f5-711a-4ca8-a023-fdc7afdbbfeb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:61f4574a-2122-4eec-a433-ea47307fc9e4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:84858a94-788b-47c7-9360-c8827604ac3e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ca485d54-2915-4de4-ac91-30a3ec0d3af6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:65213769-9803-41f5-b60d-363897e306ba phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:218e8ca2-029d-44b7-86b0-9103a17de72a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:246a96d1-38ca-4a81-b451-4566fc3712ec phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:918dcd3a-a0c4-44d9-a857-12957d7298fa phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0d61b4ff-7135-486b-be1c-8ac20b87644e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ee6edda9-32f6-4d3d-811f-1c6848440c47 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cb78acb0-28a8-4c73-a91c-8d876e875609 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1b4c0b65-e26f-4165-a977-801f23f8eafb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9f2dce77-b2b8-4f8b-bf5d-68bbc3d939be phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a4c8a33d-2963-46ce-8d27-d25ccca8627e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:45854250-3173-440a-aea7-79097fcc9d01 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:452497f1-7b4d-4b25-ba86-de8a58a5c483 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3c2207f7-9302-4c48-b327-4f1f1fe136c7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4ab37e13-e37f-4b43-bb2b-212e69b10335 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:65b1b93b-e572-46b6-abe6-49d43672354c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f094acca-28bc-4f8f-932d-5df9e6eac336 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a5e3eb29-a577-4c82-a8fb-7c23de70f271 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:51471839-11f0-4c93-9e1a-0d95f97d30e1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:30678b35-f05d-4c5e-bb43-2af5818abfbf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2e955a0a-81c0-496a-bb3b-93f21161487b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:644a78e9-b403-4b00-8575-1486ed82130b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e4b289ff-bf93-4621-98bc-80772cc91c6f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4a69af74-ae52-4705-8d28-18197add9ce4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2b297ae8-eede-4c27-b24f-49ce9b0cce17 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:67292a51-d62b-44e8-8807-84dcc09c53b0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:304aa00e-79a4-4b5c-a86d-d7e563a7ea95 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:392fbf14-b55e-4a87-a148-d311e3a127cf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c8870957-55e5-4d69-931e-2b6475a9e550 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c5adb2f2-93e9-452c-9e57-be1ec3bf8fb8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:aad3370c-c1ec-4c01-89d0-56615cd3cc44 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a56dd8d4-0dc1-49fa-9630-136b8101bde8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a8aeb112-d393-45d4-b793-f63383536164 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:20485fbc-00da-4e10-b80d-bde16e08443c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1772ce09-7f5d-4386-90ec-983b86cf7d7e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a1f9c938-fefa-46f4-a506-e040db37de00 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3c5b280f-4235-43a5-8558-22fa4adb5161 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8d7585ed-a03c-4d7f-8762-334291b105c7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:005bd86a-b32d-4a61-862c-f3b98fec0322 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a9038859-502d-49fa-b4f9-be9282cf6a6e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c20c3bcf-522e-41d6-abde-fda610561ff4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:89128a69-6e12-47e1-94e1-5e6a7ca5c477 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:359f763c-d2a6-48cd-858f-1f6faca8ffbe phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3dfcff57-59eb-4d54-b1df-cba5f03fd994 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:ed1320f2-dfe1-451f-bfa9-0d1e4233e8db phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:c626df41-6a72-48e7-ac2e-facccb1bce55 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:30612693 uuid:614e46f3-9e0c-444f-8413-82060cb77513 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e140ed0c-54c9-4a98-9714-66c1a1eab623 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:0f274992-341c-44dd-a61a-3e7ef12b2f8a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:9e436894-6bb9-4aa9-b2d4-ad41da9bc27b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:bd10e5c8-3e2b-4491-ad91-262bb146da5b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:1d625a60-9794-4995-bc09-ff2cd78c2cfb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:b49e3e0b-bafc-4a25-94ed-24a63e14196b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0dda664f-3d51-49d7-8c44-a2cb517a3719 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8f3f1f12-c85b-4b5f-bb8a-6c7f6ce75f00 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a7590982-dd89-4242-9f3a-0243f0b8f9e7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b01cc553-91e7-4500-8cf1-48999d0f1f39 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:78b0e759-c688-4fdf-8ea1-7a2cc6319760 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d7150816-f814-4f6d-806e-5a9cf7124eea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:85fef942-b85a-4c94-9025-6e12fbf7d5c2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3e52a467-5050-4792-94af-a75bd34e6424 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:badaf4b5-827b-437d-b3a1-93d45db30ad8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a8856b45-857c-4ee1-ae50-494f395d14c2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c865b3f5-d361-409d-8efe-ab513738ed75 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:17c4c3a2-7daf-42cc-9b52-88819b48b76f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b66b2140-59c3-4625-92f5-ee7520102cea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5891f7fc-3dd6-4953-8eeb-67ff7725c1a4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:407cfcca-f811-47ae-a47c-d51478d13ee7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:20eefc6a-f75e-44c1-99e9-2b585831da79 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2529009b-0f6a-40ad-a86e-b26ac6453f1c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5e7b3da5-c319-48dc-b1bc-5689890ccf04 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0286fcfa-c171-4b79-928f-013758f206ce phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e2eebaac-30ae-41dc-8634-be0a08c23ca6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dbf7a1f8-0e24-4ade-bdde-fe107e8a0491 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4347a302-5098-4006-a170-20084390d6e4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3c091ef2-d4d5-40d0-97cb-7c081236f433 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:225b57e7-fc5b-466e-8309-080b38bc3285 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:125542b2-81e7-4ee3-815b-54699c9a0fbf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:971ce028-d100-4fc6-ad10-22d86d0771d0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d96f0595-8bca-4875-bf24-9ee3d79ffc3f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9f70e27a-b060-450e-bf3e-2899bfb1e9fc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c798727f-979c-42dd-8ec4-4b8c18ae30ed phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:544d3d10-9145-4c67-bf81-1210a62f55ca phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cb8bcf69-f3f2-4990-9697-d07351802c10 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cb37aa33-6e77-41d0-8bc4-61e206be3fd0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:080df42e-4f0d-413d-a214-680ca4105124 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e61b0889-cd84-4b57-b02e-b2f1933f5e99 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:139833fd-a2e7-4c00-9cb6-e76d872f0792 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2114f599-4535-4e28-afeb-db462391e8b6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:56c4c66f-db7f-4541-b5f6-5e15854c14e5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:01e31910-338d-4d4b-afd0-8d99aff73335 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:55f0078f-cc71-4e6e-a594-06a92f417306 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9da42d2f-9516-4ec7-8495-266612c6a638 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:54988dc2-3e83-4f48-858c-b2d9b640d981 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:43febb91-3dc3-45f2-a2d8-f02ea1ae631e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cdc568ce-2791-42ba-9455-952d21f24cab phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:fcd8586f-bf89-487e-8ce9-46641518e61e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a941f917-9430-4d11-add2-f6101a0b1916 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c0991f46-761f-425a-bafa-6f6fd1ccaa38 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4a5a401e-1e89-47f9-9c5a-db5be01003c8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:80241010-f952-40f8-9c52-51b98cea30f4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:b5349758-5902-4e8b-bbed-7db0d482a32d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:057f5a9b-b887-459d-a8dc-1f19f44da1e6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e0abe0d2-acda-48b4-98ad-ab744437a484 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:2a1eade3-c1e2-4816-92e6-0b0b1f69d2d6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:7a21ca89-057f-45e1-adf9-07a69ce51faf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:5080b60f-a20e-46c1-bbbc-6e637c2578b6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e2f43187-2c19-4036-8f3d-d757405e2dc9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:fafb27bb-a429-4728-9425-aa7f5cef4926 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:5483afd3-aae2-419d-9177-db69ee969171 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:a0007dc7-3ebc-48c7-ba9d-d5ae4b93f448 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:9c958eef-59ec-4b22-863f-eaca4624f5f6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:a420ca35-956b-484d-824e-12af82c9989a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e15f710c-2ac1-4d53-a1ae-03c0560146f9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:2ecc5331-e2c7-4211-82e3-cb1c9bd3247e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:9b45272c-08f5-437d-9c3b-b94402dbf47e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:3b7221a1-d13a-42f6-a338-6e29ddf6402b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:24bea3f7-3699-4a6e-8b4e-154681785490 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:fb4791f2-c3cb-41d8-bad6-d14339345318 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:fb52386f-126a-477f-af9b-c1679120e1e2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:2cd13025-86d8-4051-b0d9-a50d0f29a8ed phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:f01031c9-f40c-4ced-b8ee-77b210816f58 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:d84e9ecf-f62b-4134-9180-04cc4e823441 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:1e493918-1bec-49f1-a5cf-ad6c1e15f377 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:76be85a0-a1fd-408a-ae5b-c04d64cc4bc8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:50ac1dc8-b4a1-48a8-9ce1-edadae43eec1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:7d3bb75e-0236-434b-aa71-4a6fc5340d7f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:5f6b339b-7cce-446d-92e8-7afda2fdafdc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b5417ee9-c403-406b-8989-f8caf9302675 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c6925158-6dc1-49cf-8b5e-ec7f176c342c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:97d47e22-237e-442d-8594-a07188a4fc2e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:76c959df-9127-417c-8b94-bb481526b877 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3cdba7d0-8306-4d16-b157-098f072d7908 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3c29339a-36c5-4bca-8f98-7a2ce803844d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3b2b98de-398e-4f66-aa92-0d26d5b61269 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3e2c9830-5dcc-42a5-babb-7ff6bc43bb91 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4400b83a-df5f-4504-b09c-d396aeb8a72f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cdbc788c-45ac-4b6b-8c9c-f3e13d03dc5f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4079a909-1098-4e21-817f-e6177635b37c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ab1ae06c-311f-4f65-bb50-dc2eaee58711 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:39c367f1-fe77-4f34-b156-5a0e0850a904 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0c8be7dd-c403-4d4b-b0d2-dbd90ce33308 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6d8e10e3-4dcc-4170-aad5-b2b0407a1806 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7c7292f4-138d-4655-b85a-7498d5ec90fa phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:86799131-6f8a-4b0b-bfb9-fae65532729e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:324e962e-028c-41e6-a9a4-6fcb476a504e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:080b5acf-b953-4077-a9d8-c6f1f140ff73 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a997fb9b-e649-4309-936f-57f48af15d49 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4da70f88-44a4-46ed-9610-9dd79df8fd15 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5303ba46-ecf5-4557-8dd2-10a6363324cf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:37e33422-b121-407e-8d4f-8f67abdac88f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a2e9c42a-75a0-474b-823c-4350caaba8cc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:55e1540a-d3ad-48c3-8cd6-bcae1bf1ce50 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7d9c1d5e-bb42-4998-a3b6-7ac827ec0cad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3f056bd1-2056-4c2a-adeb-9c088f35be0a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:edf0ac9d-c6b8-45d3-91cc-d5cc251d679a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2faf354b-0af2-4e4d-8527-4c02c56b0cfb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:719f45a4-b96f-400c-aea0-f8f15af647ea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d0eb8e67-84c5-4b27-9fc4-a5d83c21e82a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b5e89694-5f4b-4cad-a19a-ed5f210da84e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:e6d140fe-23f0-4cdd-a789-faf6ce85520e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:3a9a02a8-192f-436b-9e8e-0e15e96d11d2 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:137f998b-9cdb-49f5-9e71-6ce191fc14e9 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:d8063db0-1e41-47c0-a2c4-638e1e972e3d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:213290f3-01ea-4a99-96ca-ab8199f6a53c phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:c71c9680-84a6-494c-a6fa-47a0b4ffeb5b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:e3b65154-134a-43c1-8b31-3c715fc0f4a5 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:be64e674-87bf-4a3a-b6ba-26ce1af2c69d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:67386c6a-1864-4889-b6aa-6f5e360c8fd4 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:d3baeca1-6254-4a3d-a57d-3b08a57c4326 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:5135bf93-7777-43d2-bb5d-657364cdccba phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:2f7d7975-fda4-4451-b062-030347b00d3f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:dd0a052e-f341-4756-81e9-6acd92b01802 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:efe6b5d3-d303-487a-8afc-eaf65c7979dd phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:b3615027-0780-4a8e-8196-d1487082f96f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:e2897c0e-9583-409b-9e4e-7c1bc7960adc phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:68e8a2cd-fe81-4f82-8e17-a2c6b03edc68 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:e6646ce3-6465-40e9-91df-820207b681ed phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:2afa2ac1-3a44-463e-a8cc-c4278f80c0d4 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:0d9954a8-5410-41dd-8945-5cad9c543733 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:039c6b36-77b6-4a30-9ffa-98f1de4be021 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:075adbf6-d61e-479e-bf6a-9da895538adc phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:ee2c9808-8640-46e7-928b-33fe57a7f66d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:ba41a1c8-5aed-4aae-8d65-48db02b57d93 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:e9031894-b29e-4eca-a029-8873e0862489 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:468396b9-1001-4cac-b989-4e129ce357c7 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:3df28f43-d21c-4d25-a966-50a9928e62db phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:6fb08f2d-bb2d-468d-9f4f-6e6da50bd2ee phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:fa2fd593-821b-407f-b692-5c5c86433a5b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:1b563dd2-71c6-4758-964a-113dccfa1006 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:05319d69-8c1e-4779-8028-29f3cd67863b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:f128aa75-531d-47d5-9458-758b01d30928 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:b94f995d-9884-497a-9c0e-b947535994d0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:b330871c-ae66-4d09-94c9-0b62cfe0e29a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:186220d1-bd10-48a1-901b-d793496d343e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:45eee290-06b1-4fa7-a136-b3aa0b17d27f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b503bf3f-bbae-4491-a22d-5315e97986ea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e773b06b-34aa-4533-8f09-0708079d1791 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b1ea505a-1781-47a9-a53a-902562d5eb0a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5af6f3e3-f9c8-4d8c-8ca0-db6c7b98be81 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:698bfadb-31f0-4dd5-a15a-de759f095491 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1c8f1579-d392-4f57-ab97-92a6c9024ca1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6a6ffb00-500b-43bc-a2b2-47acb8e21d6f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:320813e6-b9db-4adb-a6b9-8bdbeb0ba480 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c657ad6a-2a6c-427d-9c18-6551a5e52314 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:44cabb5c-6b68-4a44-a40a-74b9fe6bd616 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:acb595d6-d07b-4a04-a33d-59a06591c95f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a398fc66-a9a9-4d60-824f-da50446b502e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ad1630f4-9873-4eab-a46e-65d9bfd49217 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:af6eb1b8-65e2-496b-90b9-56448c080514 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0eeae3c9-1354-4a9b-a96b-81a1b58a01dc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:131d6efe-940d-44c2-b9a2-835e75b6b27e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2ec7e378-25c0-4823-b6df-34a08467d9cf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8e3f7481-20d4-43fd-b962-771c918c3bcc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7d750c02-b4dc-4cf4-bd32-c42809fa7c50 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d18bd0bc-31b3-42a7-8afd-5daa3eba57ca phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c99e3b13-7d1e-4add-b485-c0a8ff3294ef phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8c1cb50c-5f00-4399-aeca-eb3c77fe3a2f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f4e229d4-9ead-4c82-a0c9-e526bc7aee78 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7476f899-9a0a-4869-8286-7e2a44dba02f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0ae0a099-c12b-4d3b-ad88-34eca8a6a025 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:93263362-281b-4f21-970a-0c76ceab7fb8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1c734d05-ef8c-4674-b800-627b93dfd4d8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b7cdc63b-112d-4370-aa8d-36646ffa3557 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:285f9f4e-ff20-4a25-87bd-192dec629a9a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a8c9b556-3e11-4bca-8979-d6978a23cc02 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:140bfb1f-20a9-405b-9370-3f35b940b1c9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:49258929-0045-497a-81f6-67caef05c860 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9c89731b-479e-4be5-8000-7b8010d58ee4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:11ffccca-3d29-4c3f-9444-2159ae1f0061 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1d47f041-48a0-40fb-a252-aa75a876847c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:02a98774-053f-4bc7-af23-394d301e4030 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4a1be861-fa34-4836-b7ff-20696af9a0cd phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4426df18-b915-474d-b300-3b7344e426ea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:aeaf9fe4-0c34-4142-b1a4-faf885f3073b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4c38f573-6980-4d1e-98d9-f46a3852fa7d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:eb1589c6-4f6f-43da-aea3-f9aa726a18d4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a78f50d4-ea4e-4214-bfee-72a016f432e3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:094f07fa-9607-4b91-a3bf-53af8bcda04c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:babfee8a-4165-4bf9-9c8a-e8125af46008 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e6cbda9e-b13e-44f4-9805-53f2822f6329 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:956e7516-9f0b-400f-8d89-3ce575a38e8a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c23239d5-a540-4b5a-ae17-b9b52d9792ed phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:879d7c9d-c15f-4068-b433-345d81ad5670 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3dcabdfc-bc23-4580-8b04-e8d5c4294d97 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a5a12f41-215d-4478-ac11-4f622c72eee2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:c21de16a-566a-4072-ab9a-8e2b36346fc7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:bf763b1f-defc-43f8-ad9f-d46761c1496a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:05689e13-cae4-4120-8cb3-69f2acae24c9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:46511f99-a766-4677-910a-24ffb9df3787 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:5beeef90-b30b-4a38-a722-c422f95f12c7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e5a8eff0-8fc8-49b3-bc57-4b94a1bc6dd3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a1628c89-65e6-4044-a0bb-3c5ffff13dab phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c6b1c9f5-7cd0-4fa9-b52c-8d2efb2fcc9d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:bdbb9733-ef04-475d-8841-1b119dbaf26b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9dde39ef-e1f1-4714-b199-1c179b0595e9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:79b56ae3-baf5-4a13-8341-7b442339f220 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:82e62852-657b-45c9-8664-c63f71f682b4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:61e00150-5c35-431f-b5df-8ab7a6849bb1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3805d3a4-67fe-4eee-aa27-5fedef2c4a10 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:44d0df81-8640-4006-8559-787375c44ada phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7d3f0d6c-e29a-4791-8f9f-48a49d4522a0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0670057e-be72-417c-9cd9-7c98eb911cb2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e0d1a4e0-6953-4631-8ce8-52fd70c7e789 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:32d107c0-26d5-4ed5-878b-e431e16bd739 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:02bf198c-eb2b-4fba-8e2c-e6455390b918 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2d25913e-0df1-46f3-a0d7-4fb8d6081e59 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1fe5538c-ded2-4326-aae4-21c46cad9585 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:98984fb9-0d39-46d1-92ab-34953607f425 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4b0cb5d6-6538-44d7-b212-557b351c004e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:603db09b-0767-4398-9960-5ded14dec1e1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c0fff7a0-85e7-450b-bf13-30fd6e42cb33 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6e1788b4-a759-4523-9804-5527d32f3468 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ed75bb5a-14a6-4a33-a4b6-c72984a4bd20 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cb48e8a1-f94f-48f3-a0eb-23dd9efa5ea3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:954a2aa0-ff83-4c57-88dc-2fb950988bcf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cf5782da-5c15-4908-9ea9-fa09bc450c8b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dd9d3476-1142-42f8-afb4-95525606b111 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d4cc60f0-b7f8-4d34-b703-d792c80433df phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d75cded7-9c22-4763-8dcf-fabe82c3fe96 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:001188a7-3702-4783-b535-fa7490a1f9c2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:65217812-b5eb-4195-94fa-21ed384afe24 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:652a18e8-a341-499d-9cd8-d1a1f7711be5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8e4ac6fb-2937-4ba7-a60b-bf645ad4f424 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4fbd93dd-fb59-4b7c-a5e4-7d711a705fbb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b8491c62-cd60-40eb-a909-70620e604ea7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b7847cfc-a4b5-4ac8-9b73-2a1d604b2ca0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:fa07749c-6107-4e96-987a-a32e512b5372 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5e52ff4a-ca36-4eb0-a83d-c979190a5ce4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:19e19852-7fdb-4e01-87cd-8fb9fb780f0c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8cd8442b-159c-405f-a4c2-b8a2bb5fee22 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2bad8669-4f8f-4760-9a51-b3f59f01da4c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c3ebb93e-abd7-4af1-970b-a7849fefb926 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:807f0371-a8db-40c5-aec8-1bab9b0d313a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c7a17cb6-0512-4fe2-9f3e-74c51c79ab66 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4846cb11-97ba-4e9b-969f-2e51c4d5a30a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8da753a6-6f10-45a9-acae-6c18838b2a5f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:eb608683-b12e-4861-954b-2682cad3976f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ef0b9f99-417f-40be-bc49-19c274c06ff3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:85ee8c3b-7a33-4b0e-8bfb-623633f67527 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:37191ea4-e029-4e3f-a73a-755b3f96bdbb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1922d0d4-a83d-4c02-8a4e-1bc7130c3ef2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:85ad5583-6ded-4213-8180-ab8facf46c2c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:cba10a1d-b6cb-443d-86bd-91d74a44d29f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:7938d713-d1d5-46df-aafd-3ef910a9767c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:278c244f-39d2-475d-a748-73685ee4816f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:8df7542c-58ff-4066-89e6-69c44e32932b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:cabf5b9b-6d7f-43db-adb1-ea76462cab7b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:7a11f4cf-4a21-4f26-b95d-811052b97acb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:fa5547f5-c933-4825-9485-928c336afac5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:74dd749f-073e-4e87-b439-3bef8334220e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:69e0daf3-073d-4958-8e2d-d234140ef4e0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:703adbdf-8867-49dd-b28c-928be3130a7c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:77f7ee85-779f-4ac1-8313-35b0065a5751 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9b36e3d9-828f-4840-8eb5-783ab07c8c1e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c84a3f4f-d3d9-480d-9fe3-89c28dada81a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:09918a3b-fe63-47aa-84f0-f6cc7d5cfadf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:341ad45e-4966-4b8b-96c6-e7f8701b4f87 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ddd275b0-fea8-4fb6-8c18-08fb5ad3f9cf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dd54192f-dca7-4657-835e-51cb223bf230 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6732ed19-a609-4fb8-be32-adedafd3ee94 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f9cc4325-5537-417d-907b-883fbc89cb28 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:54ce9eaa-f714-44f9-9e04-8bcb19b03a02 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f44f5d30-f76c-4a02-887b-1f3c947e295a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e1f76c4a-6653-4e7b-96ec-bcc8a4d689ab phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6412b1e5-0182-4b26-93ed-daec94bf0acd phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dcbde7fe-ee10-4ed2-be7c-f6bdc87a10a9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f851a1ba-0e73-4112-af5d-7787802ff4f5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6408a977-445a-4f15-89dd-bd8d49253ead phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b0ce51ce-a68b-48a5-96ef-016dd9aca5cd phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2ece7424-fa9b-49e7-9aff-33d04f2ae34c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:67e278c6-9a0b-4ad9-967d-fc22f35f9487 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1c1c0285-3c6c-4101-8da7-c9b709327560 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:25e6b07f-de5b-478f-afab-70c0b8383c5c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3ae31bb4-ecd1-4aa4-9996-c770ba359fc3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c4a9ad41-8d48-46e7-bf6b-86c8576ed6ce phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:50a56b3b-a833-4e92-a422-5ddcc3265635 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:348d5fe9-ff78-4b98-bccc-574bab3ade86 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:55cdcb44-8547-45a6-b426-9365043a2c76 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d290b2a4-4a8b-4f33-8b13-7a200fdc1c09 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:fb933827-e33d-4530-bdaf-b65f091f78e4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b5fbd4a8-910d-46c2-93cd-b94019ef5aeb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:695055fc-a5a2-4b90-aea5-2bb148b178b6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ffcd6856-fdd4-46cd-9778-c02c1b2baa77 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5032c473-dbc1-40c4-8d60-5aefb6829fad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0eb23893-19bb-43d2-b27a-9a51de40d8e3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3d369b0a-63c2-4f34-82c2-8dc90da242c1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:20632bf5-16d4-46a9-9bf4-50e17c99202d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e4f5ce1c-f43a-4850-9e37-e1a4f7badc89 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:96079a59-c2b2-4d02-9d66-f6a4c9b9d963 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9ded060e-a0d0-4ca5-9455-1276999d0c25 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c0501c48-f381-453a-9b9d-f56ec8e1775c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:df272633-ff27-44f8-b449-8e62c08ebed8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e48f3d98-e5b6-4ee1-b211-692d65c4017f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:aa0604ea-3a97-40e4-9de8-7654253b242b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:50251cba-ca5b-42d7-af6e-5bea0e9f677c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dbe0fa9a-5465-410f-9345-a3deb23981ad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:15f7448e-09ea-4144-a222-fb4bca8530db phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:88f5b528-ca83-4118-9779-e9952650c1e6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:7479a16b-6690-475c-af85-5ef753f4f470 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:633cb32b-f326-43ae-a9e6-aa01bf793378 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:bc7e182f-ad07-4594-8967-39d7fac35438 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:0e91d30c-e07a-42f1-b4f7-9772712b8140 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:5a5cb87d-330c-403c-a5ef-a280140f08f3 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:389f1324-e094-4377-80fb-4f5134e93315 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:ed46220a-a6c3-4a39-a304-062ec931ca4d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:5be08fca-fe22-475f-9586-09e28deade84 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:84cac2aa-fc6c-4ab7-9aec-61ab3848c061 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:faf7ed60-71e4-446b-b642-7742c08e86d5 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:e1282245-04ee-4d0d-a150-a773c642d19b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:0ca34899-64f8-4a67-a1c9-b685d926d3ae phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:902095e8-80c0-478f-8ba6-7b0e7b5f3d10 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:2c0dd093-8c47-43d5-aa24-6c5128fe93c5 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:a25fb063-a606-4e5e-b9a7-26b950c7e214 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:7d48772b-95f1-477d-bd11-475e55c3f823 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:a1de60a2-532e-42d2-b14e-2a8e769b1c7e phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:f201402a-80b1-4f1b-b2dd-8b8b9c5f55b3 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:6d7b247f-ca45-4334-a3cd-52f352d2cddd phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:fec1214b-f211-4f70-ba14-851ed3b7510b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:4560a050-b9df-4433-b7de-a2e2d2072177 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:9ed8660a-3af0-4f64-a083-0f6875409cc8 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:64f2e507-1551-478c-a9f7-71fddc9f90c8 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:4db4bef7-e9bf-43b9-8ffe-e0e9c356d63f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:5e6b9844-2138-4845-8d57-dfed8040b533 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:7209f8f7-60af-4ffc-bf6b-61240fc998f8 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:091fd8a6-e0c4-4ffb-8666-ed2e89dd4b38 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:96f2d6a5-420b-45b1-9957-68f2166b0ffc phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:e99f377d-6145-4e57-82f9-dac33820d7c0 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:c193d5d1-d61f-4a97-80d9-a44061f659ae phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:0fb0311b-7a31-4779-858a-048b66584222 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:cda1b5c8-b6ac-4094-8cc5-a4628fb14b20 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:d047b2ee-e8f2-4ccc-8586-ebf5a1e72517 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:d8bfc1f0-27ae-43dc-b311-e0c39a69c0a6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:ec2f18fd-b783-48bc-8283-d8fcc3225dce phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:682431f6-ef6c-442d-b0c7-0e76b393d52e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:dae5c956-3df8-4ef3-bceb-5b7f6e8af5bc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:0097da5f-ce41-40ef-a453-995aea25b72b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:b218ab28-a209-42c0-a9b2-55a24c62fc08 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:527eb82e-f866-45d7-ac6c-7994ccef792c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:40617e7b-477c-47a7-bcd4-e10985a5ab64 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:101fdeef-9520-45f2-b4a7-a751e178cee7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1f8c743d-a9d2-4212-8c7e-5086cdd17387 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3e728e0d-215a-4f9c-97e5-11be75496ae4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:15b6d198-235b-4693-ab49-dd32cd3e8fec phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6c38a277-a8ab-4fa7-978f-ddef0bd6167b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:fbf1d82e-65dd-4a5b-a09f-59ce98258946 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c455e90b-52ea-4dc8-947b-2e4d234f96ee phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ffca35bb-4f86-4b80-b0cb-fe6cf3a41366 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c046deac-4261-4d26-8b70-7be21cb90365 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4d047081-9e65-4389-bd22-3ea93ba6cf1a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:157c990b-3b6f-4145-ac4a-1d32413780a2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:83a4d99f-35db-4bb2-8d7c-858002709e3f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b94f8766-c5cd-4920-8ec9-068b8cd4f018 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0172265d-9fab-468b-b80a-3f454f374adf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8b79aa34-ad2a-4564-948b-166104e5bd79 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:532e09eb-c069-43ae-bb6e-482b83502198 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:66067a43-ddb7-424d-a866-79810b81b6d1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:eeec1eb6-b142-4bc3-8e33-25683168477c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3661b05c-caa3-430c-9e72-51f852514dbd phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:44a4e6ba-4070-49af-818a-aec2622ba03d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ace47ea7-4d84-4904-981a-f580adc44d82 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:023e3f8b-ad0f-4827-865e-90b1a538adcb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a31a36c7-e382-4ffa-b54e-7ef7649d911f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4600b16d-df3c-4bd9-8bc6-cbc4173c362e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6864ecca-1089-4f1a-aa6e-c46335e9cb68 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:34fa650c-84dc-4528-8bed-1521468ebafc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4eed2e90-4c2b-4702-9e0e-7e0543244d04 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:daafca55-72aa-4b00-8af2-7e72ca347945 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:30ffbaf9-c36d-4277-86d7-98a33f05cef6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f1a27d72-0d82-4cbf-8e24-7735b4094522 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e0066531-db34-4cd0-87cc-9a8796f9e828 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:010f16f6-f7b0-49ef-8288-048b3988496c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:098972f4-a397-4e81-86c8-c925273cb59a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:573773d2-ed21-4926-86e7-4f161d46ffc9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:21e1dbe5-e8e4-4989-bdaf-ea65f93b4fd2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8f94f33a-62be-43ff-9341-7c71d4b77058 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:2afd6108-e402-49e9-9b5d-dcf4b7fc4812 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:288479be-0786-4ce5-a8c6-1855671c3c53 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:c6460077-2f7c-49ad-b59e-f494a5c282cd phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:1e9040ca-134d-4b41-970a-19fe12aa5665 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:80842d11-d767-46a9-9165-f032ebac3730 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:49afaa32-0df0-43ee-a709-b8ce4f3babdf phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:22dfdbee-1b32-45a8-8500-8a5eaaff3342 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:759ebc6b-9efa-4bbe-8b42-b489b41a18ac phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:77be6eab-988e-434b-808b-ddcbc242f676 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:f1c0d51a-a314-4aa1-8ff5-b310a56517de phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:cf12ba39-3467-40ad-8017-e817a8b5d3b2 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:74dda090-ec4c-4a7b-94f7-cb00cc56e1c1 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:aca8d296-effd-4d92-ae20-41064121e029 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:b1909067-1442-4c2f-9e26-37f051c69a1e phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:aa78dedc-22d2-4893-bc6b-bc4ad82a8aa7 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:46b808e0-12e1-4277-8da0-a6d557712178 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:c4f1d72c-6f38-45c6-b5a4-2435bfe1a64e phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:330ee982-1dea-4aa6-87eb-14959aae8c1b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:7e002bdd-e0c6-4a9a-848b-c9d54bb29b44 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:f5c50366-f859-4b7a-a0b2-693ebf074bb0 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:46f2e5cb-ff86-4b2c-903b-38114e537d57 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:fa58ccb0-7934-43c4-be9a-4b07c6690a22 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:5164560a-106e-420b-8671-e3c1cc10e8bd phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:ee46dfd2-d477-415b-bb03-9822598f9f7b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:bb690751-b1d8-470a-a0cc-8893a3c4e6a1 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:405604bd-ab64-4fe5-90ce-50a23211c6b8 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:dbf70a42-a984-4748-bf62-e63eedf82b2f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:080a4e75-6303-4e2f-a1b3-a678801830fa phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:73c24e4c-6446-4e78-bb04-c08ce2f60981 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:2451e550-4dac-4f98-9de1-2b37781b6a38 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M0D infores:phenopacket-store PMID:37684057 uuid:1c721ec7-47ad-4a48-b646-a8cbc74dce9a phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0006872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y0M0D infores:phenopacket-store PMID:37684057 uuid:1d92b5f2-d8ee-452d-adbb-d0b63f1f2d95 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y0M0D infores:phenopacket-store PMID:37684057 uuid:8ff245f6-9d19-49b3-b8ba-bf66e2aa5de9 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y0M0D infores:phenopacket-store PMID:37684057 uuid:c0854916-6826-41aa-b426-3cfd0b15bcef phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y0M0D infores:phenopacket-store PMID:37684057 uuid:d2bc69d5-3060-454b-99a1-2fa0734d7b99 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y0M0D infores:phenopacket-store PMID:37684057 uuid:d83a6741-55f6-4e98-9bbd-30f01d0109ce phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y0M0D infores:phenopacket-store PMID:37684057 uuid:a959eba5-7df1-4501-90d0-f18c1238b332 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y0M0D infores:phenopacket-store PMID:37684057 uuid:5f8644a2-9184-47ed-8253-7a54db19785b phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y0M0D infores:phenopacket-store PMID:37684057 uuid:e37146db-3456-4532-87a5-780f72379d1a phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0002333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y0M0D infores:phenopacket-store PMID:37684057 uuid:33d16c9e-92b9-4b27-b39e-05f4e33dfc7a phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y0M0D infores:phenopacket-store PMID:37684057 uuid:44a1f081-37b4-4d32-8ffe-4924c51cdf2e phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y0M0D infores:phenopacket-store PMID:37684057 uuid:79db98f5-9358-44a9-80b1-0758f8cc4c8a phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0012498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:e7eaccf2-4508-440d-9318-7ede67f43fa3 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:2ddbe2bf-9c83-45c9-9a13-01cf4d2075f3 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:fc286c37-858b-4342-9f10-4e32805fbbfc phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:3a223c8f-ce9f-400f-a3e9-cd587cde2a65 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0002987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:65c0273e-6e1a-49c8-aa8e-73128b12b8fa phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:4ce1359f-6b80-40a5-a371-f360dd3d56be phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:ce9ac39c-875e-4bbd-ab86-a51f95f3728c phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:4fde33f1-479e-459a-ad85-4c8a5f634e56 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:bae65133-a13f-445b-b4d4-48f0501c6921 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_phenotype HP:0001776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37684057 uuid:ca000c30-5d41-4f44-a66d-6d4f08013564 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37684057 uuid:30323207-727a-4382-9c94-5d9244205cd6 phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37684057 uuid:f71ba52a-a927-451f-855f-6429ba2f2c3d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:30612693 uuid:7afd7ed2-bf75-4726-8896-3924f60f1244 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:f965504a-35d3-4bb1-a335-ea0eb04274ee phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:b3682171-42a7-4948-a160-f769042386ad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:2ce84133-8921-4954-a1b4-a93e71c9b7ad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:6dbdc08e-8ffc-41d1-9937-7df0253668b7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:28103bfe-52b3-443c-8b8c-e5d870729768 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:2edeae55-d552-4aad-8474-7682bbef517c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:caff80ad-c2b7-44ad-a9fe-1ec7849c079e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:ac8aa3e0-96f5-49e6-99b7-64804a9ab43d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:c78251ca-0c7a-4ab4-a95f-e27d1fa78654 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:52987c7d-033d-468e-86c9-60d7a6dff370 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:2b51b021-1621-4811-8e81-051748eb47e2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:ff21182e-e0eb-45f1-9022-f705f71c8330 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b8560983-33ca-47cb-8357-24565346e9ec phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c98b964d-246d-45e5-baf0-d2a951af14c9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f8e5b1c7-d11f-4946-a301-84babc554b6f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d92e793e-bea5-4834-bfbf-426e890a81fa phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3cb97c2c-b0c4-43e1-9ab0-e34b66174883 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:14645d1d-2972-4a07-99be-44414a6ef7b9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6a7ed666-e270-4669-a233-28ef34548d5a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dadf2c7e-3758-4207-af35-31ceaf3f6926 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9da36587-1243-4788-af02-5290f71acead phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d13214fd-777a-467d-b8a6-438ac68583db phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7325bb26-dcce-4e7f-991a-0082d7084ec0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:823b6c69-e53d-42a0-8593-b545f88de0df phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:56cd4c89-cbfb-478c-880a-e7e0b6b41590 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5d133e17-6e6d-47fe-bb3d-66ce87a71057 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3f7c7b62-1182-48a4-8895-75e2deae5a29 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c57d0416-408a-40d6-a4b3-7addb0e123c9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:aa1ce1b5-18cb-4438-9d11-55c8e89b9d67 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:af1cfa53-a4d6-4b04-a859-ec6ba77aa3ec phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4ce39eea-381a-4de4-a11a-7554461bc1e9 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:31c71a74-7cbf-459e-8b98-c3d5a186b005 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b0254150-6b01-468c-944c-c6f8b8b58a65 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cc96ce61-c7b7-46a3-a22c-2ac91718696c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8ad7008e-c519-4672-96cf-98543644d34b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:884c740f-ffb9-4878-a3bb-3c84cf2e8574 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e2a54888-2c58-4872-b4ba-ffdb32995e02 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:75f452ef-7657-48ab-a216-8614d66d5ee2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7da14bb2-1a35-4625-aec5-8b218c8d1d06 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:60334f98-3a21-4521-b180-51427bf607a7 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d8051ee3-8603-4a3f-99a2-fa90bfc93e04 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:efe07ef7-88a2-46b6-97b1-d97a75232b8f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cd1405be-50f9-4039-887f-0b4d19af007f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f0055f54-b1a8-43ab-863e-7766bd99f28c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:65cd3370-0b6d-4ba2-a6a7-c087a03c0c5c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f5a9b4e4-59f0-43f5-aad3-9d1a611ca47a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ca7328a2-bf69-4882-aaf5-da2fc5a4bf71 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9cba0fe1-b864-405a-9379-c9e52d17dde8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5cb7851b-c344-42ba-b3d9-069f66d1917c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:96507132-17ce-4d10-bf65-d43ffe09a8ea phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:de5b23d9-aeb2-4b93-838c-e37b9f6bf044 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c751ce66-0d07-406d-97c6-c03ff8ad3419 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3a666166-3346-4144-9d15-dc6e84dcf62f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:eed6ace6-a3a1-4a22-87d5-6654aa3a9444 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:19af97d9-4fd4-41b7-9152-a1d9eb99a440 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d9359d44-1b98-465e-a30d-f01606c5197e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:3fd81a2f-06cb-4dbf-ba30-d80a7883b992 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:cfe9d64e-e8cb-43e3-8c41-a7a72125ee91 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:30612693 uuid:da6c5609-4fc0-49be-aeaf-4b64af5f2022 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:dec15ce2-b877-4ffa-954d-bd95391abc6f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:1f5e2503-0699-4876-8a96-6ec0aba80c19 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:3ad61bf4-98ec-43c2-bad0-f8ad4169ee85 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:34115977-5cd8-4aa5-8349-f5d94ac2ba30 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c04f10fb-0a87-4a41-9bd5-e8e1581a5150 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9637a2b3-faad-4b79-9c27-df92985a2c6e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e9844659-093a-4ad4-8492-6ed38800c61c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ae2fe6ee-0d6b-4306-a396-7716c3b04aab phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9f93260b-8a5c-4ecf-a3e0-905b1b0b54f3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:150966e8-2ad6-4bc7-acdb-4cd9556a0657 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5697e954-2a2b-48a4-8a8f-498116f26d40 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5203c752-201c-4f3f-bae6-8e7944d8a30f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:541bf441-9bc7-4a5c-a440-e6c8199f8e75 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:da1f1e00-2791-4d23-aced-972e30e8f809 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2d044ed2-76a3-4009-8a05-badd2c8ec32f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4db8161b-bf2c-4035-b024-feaaf869b875 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e609e5e0-9742-470c-8bad-1d313d4ea27d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:df444a94-03d5-4885-9dea-525990c24cbc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c5d25eaf-28b6-4772-bac7-19f390c69899 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f0e1e46b-b7dd-4301-a8ab-fba5954066d3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3edd7f8d-8672-49e3-b3cc-f62e05cdd5ad phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4394af97-8fef-4f1c-b877-106ec81a410f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b6633f42-3240-4882-83dd-6ec3297e1985 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2a145c6a-a660-419a-8a52-ef89eada116f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:51d0bdc6-424e-451b-92e9-64bd19c852bc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8b9d0420-1092-49ea-8393-3c6d484abbca phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0e0ed9c2-23e8-4d42-b74f-41e2fd3964c4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f92af8f4-0ecd-4b51-8312-415037b9f24a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8660c1f2-e902-4c1d-97c0-dcaf095b13af phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:88352d1c-6a09-47c3-814c-830c7ab72b29 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:efa83ddf-64b6-4c4e-a3b3-4b7993be9da6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b003295b-dccf-4a34-ab4f-1c42331d579d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7c0cf5ba-42ce-4aca-b79f-5dc7abb73456 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a9b3c42a-3b6c-43c2-9e8b-478a481487c1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4af4ae20-47b6-44da-9619-ffa7fb41ea18 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4f8c8654-130a-4c10-b007-12c2d33c3f04 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:74b9f125-e61c-4b3a-ab02-638d3bf2b025 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7be98a85-f129-4686-80e2-4567a0ff51c6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cfcf1101-9b8c-42a0-8ff4-3a570aaaa7bb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:45eef3e6-59c2-4dcd-9562-1474f285136d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6796e409-da4d-458e-ad40-6be61b3ea873 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ab7e127a-1714-419f-ba7e-3ac7ff62fb72 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3cceae9a-33bb-4bc3-be33-d11a267b3d89 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:bb987f0a-3936-4b1f-b555-731e6fbea7f1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2d9e807c-3daa-4774-a839-89f8ce0bb9c1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a92643d3-c58e-4b80-877b-522e83b59698 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:e180ac80-b8b1-467b-9471-a1a9029bfdc6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:23ef734a-81e7-4521-bf01-ab1e99caaeac phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:0b7febab-4177-4ea7-9722-6677aaef5d3e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:09e04e56-4153-48e5-8d09-a6b4bea9d86b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1bbff333-3e6d-4f49-938e-f1e201376d4b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ccf653de-e100-4768-b9ad-d420c864ecc8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ecc019c3-a68b-4383-8659-66e08bab22d0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:5b57d592-9b3f-48aa-9c66-3ac4e5ce9e19 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:3134dcb5-228f-4a37-ad09-6f4c8327ec91 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:0286e925-5b93-4db2-a9c2-d64c97779e6d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:71799b49-76d8-46a5-b36b-da1df20becfc phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:0c7007ea-37ea-481b-9d18-4a281ad6ffcd phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:b5c87fd4-5e6d-4319-a221-4b890dffa7f2 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:87cc019b-2588-454d-b17a-530987648f88 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:3878f008-58f2-45cc-967b-30e83cf34672 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:f9ffe9da-cb43-4f8b-841f-2959c0703269 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:14b122d3-e540-43dd-828e-d9f94b825c98 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:174b955c-cdc9-432d-9f36-e29a72672458 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:89571ba7-0060-40fe-bc47-195d0ef1e00f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:93f944e4-9fcd-4c3b-adee-565e852e159f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:3e314219-e55b-4852-a985-47769269c075 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:4f22de9c-d6b4-4213-ba1e-4e94fe17db99 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:0c81e1ba-f9cf-4f05-aec2-153c593dc60d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:06aad95b-e611-4fc2-ae92-2188e976f35f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:e19496fb-c871-4868-9fcf-23d9b9a7c469 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:687e84f3-6e12-448c-8aac-596f93e3e653 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:9824a532-c34b-4188-a887-06d1355511b3 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:6f6fe788-f5bb-4662-8808-134ca681121b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:ec101c2c-25d2-4c40-bc1d-e0f9ebffdcac phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:085a1a9d-6873-420c-8f4a-5117dcc68636 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:e779a199-1e05-4a52-8851-ce76d14d1c2d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:ecbaf0d4-fae0-45a0-809a-54e6ce5fadc1 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:5b35e168-5be2-429f-900c-49096fc83caa phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:4bdf45b6-0fab-4ce6-942e-6e627dd52f77 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:3cf54de9-5d79-4cb0-bad2-4c1a5b92c66e phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:4922fa15-3902-428d-a8a6-70bbaa0ba4fd phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:5142598a-d565-4075-a216-f6dd2d6b3af6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:cbd5fa81-abde-46a7-bc70-b471297445e6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:a33ce707-42f5-4d0a-9d19-d697ad7c72c1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e7e51902-072b-4eb4-a46d-0f1042bbd3d5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e42d8582-20b3-402c-bda7-748c2636a97d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:96ed6181-ecf3-4445-998c-5c35923c04f1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:e28fa9b3-43b7-494a-8386-001e0ca0a59c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:ec619061-4835-4d87-92cc-b839bd5a7445 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:bdd672a4-8ff8-47b4-acb5-1f5b0717c6be phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30612693 uuid:019d38ef-0fa7-423c-a497-8dfd0aeaf474 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:083be489-f5fc-4a78-8dc9-8670c71b489c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:1fec9c6c-a6ba-4bb5-b5ba-b7c0ff1dce7a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:43a3fa9e-0569-4a9a-b6c7-5e2de8db92f1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:71dd58dc-0d7d-4995-a90a-acae62938e79 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ce930635-ab0e-42d3-abdf-80770ab87cb0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:50c32eda-89db-4b17-a99d-c416a9eb5888 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d86d0781-33b3-48dd-9cdc-89db6f8da810 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a2e89933-1f39-4f6f-b2af-262552bf0cb5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ac9240f0-c465-4f82-97d9-29a8bffde814 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ab0fe812-9931-47ad-a9a1-c66089e0fb55 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:db8e295b-1cfc-47c0-8f0e-1fb1db727f32 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6478fef9-c8c1-4902-8dc8-4442571b2273 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:c3c6d2af-d5e0-4474-89ce-02fba4992397 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:980d6b6e-949a-4aaa-8e50-25583d6eddaf phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:7c25eebe-d720-4dd8-a999-4e3ebb8e6334 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:edd9b639-aff2-47d1-8b6b-d9fa8fa5fcfb phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:f7de4d67-003b-4b1d-bb40-75129bdc66a8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:9b9fcb7f-2e73-4c43-af7d-3223965ed82f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:410b774c-60e1-4282-bd1c-1a55608f2079 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6c9b08e8-dae6-42f5-9015-005f55542c4f phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:b807ec44-ebcd-41c6-a03f-f55e431899d3 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3e3b02d8-1f86-4a2b-8b8d-f3a75830cf4c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4f347f5e-a97b-4419-b06e-f3d11e0c81f1 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:bedf8da1-6d41-4764-9427-0b46e2fd0091 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:8422a5a2-e273-47c9-a561-2e87ba8c5c89 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:6000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2a973248-a833-493e-a10a-543365bb3cb6 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:01195a1a-17c6-4bf0-9961-6f96e2d09e15 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:dddfe358-272b-47aa-99f9-e4d33f66f6bc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0500041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3188a47c-a5ea-42cc-a5d5-b61a3e31593a phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:a0b1d4a3-3e6b-43e1-84f3-452249501789 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:ffbcba04-9453-46db-87d3-4debc07d4154 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5b03bc21-6f8c-4ffb-9cac-0477023b28f5 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:6cc8403f-8567-440f-9fcb-bdd29dbb3806 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d7e8c69f-fcf5-4069-9b5b-cac3cf7d4301 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0040183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:cd166737-7b28-4b75-a182-00ddcbe2b3dc phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4eeb266a-24e6-48a9-b5d5-0989ff07a9e2 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:4f5ccd22-1c21-4293-b573-6cd9ba32395e phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:24fc4b47-4397-4e47-85b2-a7161976333b phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:115b4375-bd54-4342-ac55-a07787e525a8 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3db592b8-caa0-4c2d-b3b9-5fe8d9b40f11 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:5a028b89-1cd8-4c77-8055-28ca2e043368 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:3ef15158-42b2-4940-a499-a8c9c0c00bd4 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:225e55fd-0d6d-474a-a5db-02df31accac0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:98be5b76-b30f-4c86-8159-c71ac08c3049 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:d1f3b82b-18b1-4468-a9df-631ae486e70d phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:2746c0e7-1d9b-4499-99e4-67fab93d189c phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30612693 uuid:49a12b8f-bb34-4ab4-b992-2c6673725b99 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:96e5e34f-62c9-4c48-bab9-977785fd45d0 phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30612693 uuid:532afcb4-8063-4761-bd63-33ff1fffa135 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:2e9b5af2-2268-4845-9efb-f6e166c6318d phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:9ab79e96-3125-4612-9da0-063d77e8ff24 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:cb7131dc-628a-4216-9b5b-c8e6f15aa3ec phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:1f7b46bc-86c4-41a0-b7b1-c93ccf77452f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:7c06ceca-14fa-4da2-b626-3da63414dc16 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:a00ce62f-f643-4d24-be9a-8a11e66b5849 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:67d3d671-6a86-4674-9161-9bc18b157c7f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:05db9e25-296d-4f51-b061-bf1d87f32e4b phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:ced5b0a6-7c76-46eb-bcb6-c9f9ef81d133 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:1a52d890-b9b2-4bcf-bdb3-75d1ce76adc4 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:2627cf6a-0dc3-438e-a948-e56e75f93b35 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:9a5e8fe0-6453-4ed8-bb87-80fd4fc9383a phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30945334 uuid:c1e6e297-b63d-4404-a570-53fe151b7b65 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:a37ca459-e796-4e29-8bae-06b11e13fb0e phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:f942a32a-f847-47cd-9f9a-0e140dcc69b4 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:72ba711d-2ef6-4dbe-954d-095525293683 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:934ecb30-63fd-4fa5-9542-8ae1c038ae8f phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:12f8c3b9-c00d-4a96-b975-d7ebca8d6aac phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:dfcf57c8-f460-4ed2-99f3-ab6200d77197 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:354aa97f-906e-4b2c-8e4d-32613a5240c7 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:0e616891-3d04-4717-8fa2-999bc0967c76 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:9dba8aca-1e3e-49aa-a520-226f530be8da phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:c3652678-534f-4e58-9359-d3da0451a662 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:8f4c4abc-650c-49b4-85ca-0001504d02de phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:ff7a6ef1-c2fc-4189-b0b8-4c9d20295aba phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30945334 uuid:39a21b55-6836-43fc-8def-1017755d49c2 phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_disease OMIM:618443 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:41c62fbf-b73c-46b2-9004-0ec06c1e6cdf phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:has_gene HGNC:6884 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30945334 uuid:f0101a63-adbb-4c00-a2ee-e13f95284243 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:0de28d15-0afe-41da-b839-7fa4eeb324f6 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:44c0cd8f-c514-4e18-8a5e-10f5ded5dd83 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:38141607 uuid:cba7e65e-3ac2-4ddc-bdf3-2531e02e8297 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38141607 uuid:d834c95f-cbd3-4169-aefe-7b77599465ae phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:5bb5f53b-dc1f-4628-ac9e-e9df385f3565 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:af1d877c-31c5-4d57-a644-9bcdf5d67d52 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:19b65362-5272-4111-97a1-9159adab495e phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:6cb59194-1674-49f1-a45e-229ff06f52a8 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:25f1404c-9229-427b-ac54-71d5b883c9c0 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:c936ef0b-2e5d-4f27-ac57-d59a6b991710 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0007898 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:89d1b5ac-f8e6-44a4-8f42-a683bd8fd657 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:108945d8-ab04-44ba-8917-0750bd0a7d4f phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:2461a8e2-332a-4e5b-a4b1-ec1fb2d88ffd phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:ffaad26d-3eda-47a9-bc4c-0f36ab850de5 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0000104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:491516c9-f9f9-4cf7-953d-5d83fc670863 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:4c0a9b81-ec96-48b6-b3c8-e4f96ba83be4 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_phenotype HP:0004592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:3d1d63f7-d4b8-4e3a-86e9-fd6819e4d6a6 phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_disease OMIM:620712 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38141607 uuid:fdb7f518-449f-43fb-8d31-8b01de2775cd phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:has_gene HGNC:6913 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38141607 uuid:cbee7377-7cc0-4814-b173-231046901938 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:2cc88f72-4bec-4aa0-8405-ad12dfb60dcc phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:4af7c3f2-66a2-4c8d-abc7-fc7d21e11d85 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0000104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:eeca008d-cc12-4486-90a5-4c3e6964111f phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:6c9afc0a-d506-453a-a957-59c63f0abcfd phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0004592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:0fffd52f-9987-4c45-aedb-2c92546a2770 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:25974473-1dc7-4eb7-8b38-f7bf415b4d13 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:e395a3b3-f2c2-42bb-a9df-62d7ef9f7ba5 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:8b7a3013-cd3b-4329-8d4f-89c40fea2805 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:ef9788f8-a45e-446a-a065-8e0d33ce93bc phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:104de53e-f2f1-4a52-8ddb-26069f932b13 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:7ddf10b3-9585-456f-bbb3-a3f483287260 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:1248f03b-a49f-4213-984f-5154eae71c44 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_disease OMIM:620712 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38141607 uuid:79585e81-1a52-4667-bbf1-caa9e3efad85 phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:has_gene HGNC:6913 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38141607 uuid:af5900fc-3f30-46d5-b203-2f3c15bb3e85 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:57e0b154-929b-4da6-a014-cbbd80530d4b phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:de2ac1c1-a235-49a7-8a7d-2a9c2098387e phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:38141607 uuid:4f0d7b40-7d83-44c6-a12f-75541dd6702c phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:4e898f62-890e-4104-bc47-c9b0bc516f99 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:5e6412d2-e4e9-4420-97c5-c8de117bd6a7 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:3b51a8a5-cbfe-44ec-a6da-460e87050f23 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:1385a0c1-a555-44ac-9f8d-2e56c139fa8b phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:ada489d9-0446-4c8d-8e9a-9bc7e2fa9b42 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0007898 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:9f9d9fd0-40b2-43b7-9434-f5c514a29b88 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:ea13ba68-de6c-4d5c-8408-776b83f0f399 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38141607 uuid:4055681c-cb71-4108-8bc0-f14d716d9fa7 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:a36144a9-07a7-4e50-b88f-62b13b6e7bbc phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:11daa64f-d3b7-48d9-b5c5-1693cde77605 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:0101c015-dd48-4e96-9dc5-847f18ef137a phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0000104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:56b50d88-ffcb-449f-b616-2abb1ab5bab8 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:032d2527-db7f-43ed-9cef-ef467274bc10 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_phenotype HP:0004592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38141607 uuid:28a472bd-93c7-46df-b157-9c87a36ff955 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_disease OMIM:620712 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38141607 uuid:f8310404-0f18-4e4a-a879-9c65f802d8d7 phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:has_gene HGNC:6913 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38141607 uuid:ef5f8b7b-f7fb-4b2e-832d-a4da821944a2 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:15523648 uuid:da463150-986d-4206-9512-8e40db42ead9 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:15523648 uuid:1bbddf36-292b-4eb3-88cf-2e71af6bf640 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:e840f36b-88aa-4fca-be03-a58a09f2840a phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:d889c62b-1b3f-459d-b1f2-b68f2f6dd436 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:8d8c8a4b-c137-4629-92d8-d7b0b4055673 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:ddde9436-66ce-4066-8697-98979e793de0 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:20f8a8df-5b3a-4db9-ba8d-6b641472b209 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:499b09f3-bb76-4d08-81c6-9f93e3682762 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0007266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:3ddcf221-e92a-4512-a7c9-c8bda817440a phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:589e4f7d-ae58-4ce4-90ae-b05c2cedcf53 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:eaa32463-3380-43e5-bbd3-a14315737cf9 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0500167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:779b1ff3-5cc7-4844-a4eb-61b7affe2bd5 phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_phenotype HP:0012343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15523648 uuid:86ac8529-ab9c-4741-96db-8fcb408a70ec phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_disease OMIM:252650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15523648 uuid:1d911ab4-2ba6-49ce-bb71-7d19b14538db phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:has_gene HGNC:13356 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15523648 uuid:18bf8184-ebe2-445e-b22e-9c6baab117aa phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:9c511c1d-1703-4843-8fb3-b3d632b92e5e phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:4d9ea800-5dd6-4db5-b0aa-a5a5fff19a94 phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:8056d7b1-bfd6-4d7b-a328-8979b415bdb5 phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:a40d8a0b-6fa9-4392-8781-5a215af18e37 phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:93c106cc-f194-4ba7-b980-94af366a0b90 phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:ec76b750-c3e2-490b-a8bc-da80a7e66cd1 phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0000485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:6bd5d8a8-581a-46e9-9edb-40ce702d15ee phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:8ffb0700-1efb-4c5d-b388-08e75797555d phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:28b29c17-b221-439f-b532-3d085fe2bf5e phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28620732 uuid:ff21bf40-b530-4131-8888-1d94d0b2689d phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_disease OMIM:252650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28620732 uuid:30c84ed5-12bb-4554-b897-bfbcce9cc65c phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:has_gene HGNC:13356 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28620732 uuid:2a1f4aa7-c375-41e5-bd30-089cead932f9 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37875108 uuid:e4d282d0-3eb8-4c2f-8f47-cd8e81ee1e63 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:5447d8de-6230-4165-b97e-0df4d884c8cb phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:b6a65eba-186d-468e-9555-0dae846d2ddd phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:b6c121f4-7170-4008-972d-57f5ec9a3077 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:3d9df5dc-79fd-4781-89eb-50149824b237 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:8698c8c4-27b2-49d2-8795-ce5ed507d11d phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:bd2d8c9d-6cf3-46f3-8148-c82cb1936367 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:c3fefa57-ce35-4181-9f8d-b9c5e442d49b phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:546cbc75-d209-4627-9640-a46745624636 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37875108 uuid:87ce2b4f-c223-4601-aa33-81cfb74a5da4 phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:968b870e-b008-467f-9b23-e562d6224e30 phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:571cfccb-788d-473f-91fc-2371674d8f74 phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:5fd48aca-1031-4f41-9daf-d683699b4dff phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:4e75abde-cf44-435c-bcec-34355b423166 phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:ff176497-6cd5-443e-8adf-bf6f1443c113 phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:d52aa918-d8a6-430e-a166-7ff42310ade4 phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:60c4b35d-1fdd-41f1-95bb-6150e728baa5 phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:2f71be97-1346-442c-99a8-e46edd5cfc54 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37875108 uuid:4db0a5dd-a47a-4f47-a274-503caf776aa1 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:c567cdfa-1fd5-4348-9120-d541e18121e5 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:a6aee5d3-a6f1-4c8e-adb3-e73b9c01ce53 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:a7efd5de-c67a-45ea-96dd-34dbc3f72322 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:3db2ef03-dea6-4853-85de-b274e7a5f397 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:df1853d5-78bf-47ea-a32f-d910386a38cb phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:1619ce98-0b53-4017-9c08-b3bbe48431fc phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:884e8b1c-75f8-42b6-91b0-05a322ae41aa phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:37875108 uuid:8e31d20b-7761-4c80-a0b3-3bb69ec67c07 phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:c903fe1e-e99d-480d-9879-69668f0b90a1 phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:ca5eb072-affc-4584-82b0-d9824192a98d phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:949b3b00-3b50-46a5-a48c-67ac93844439 phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:297f237e-8356-4b53-b68c-b443b27e3923 phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:930a9a1c-8570-4095-aedb-440b079e09d3 phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:24ec575e-0a74-4210-8883-5bba8a3fd3a8 phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:bb9e4a54-a3ee-447f-9a9e-472e7bacd1be phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:95fcc198-8df5-43b0-a268-8ac9eb6925cf phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37875108 uuid:26b32c7a-6ade-450b-a87b-9f83684608de phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:32797e7c-0e92-4a62-a7ff-b097d5171743 phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:abcf6f46-ed4e-4e92-8270-d04a13fa9ed2 phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:850b9fdc-6c6f-4f85-950f-ab013fdd6020 phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:4678abae-d211-497d-b04c-c6d573b4ec7e phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:0c1b963f-0bd8-4066-a2ef-ce6372e9e294 phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:5b2d3d7f-a12c-4bda-9516-2732fcc23eee phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:f0b08f76-3ff0-461a-b4f6-22f552e7ef58 phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37875108 uuid:af83c65c-09f8-413b-90c3-a90839952b6b phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:bf25ab64-ae64-4cfa-99d9-a7d2f805e7b3 phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37875108 uuid:20497606-26d3-4107-9fc5-5729a376dc78 phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:6eadd0c2-fad1-4712-a269-bddbe5e3993b phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:fd70ce61-e8c6-4a77-9d14-399cfc581575 phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:44b49629-976c-49aa-91a3-da9d62cfe01d phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:e5b04954-39b5-4919-96f5-3a78c5bfee0c phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:96783310-dcaf-4b0d-9a97-aa3c255e74cf phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:06ec4230-0cd7-449b-b5b8-b8bc391b2f3e phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:c2569a15-1308-42f6-8158-0caa2dde572d phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37875108 uuid:ee6c613c-727e-4cc8-b467-b5c63aca8011 phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:e40dd862-6c21-4140-8402-32b6bbf10154 phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37875108 uuid:58004530-61fa-4c91-b3dc-60d5cdb00edb phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:b90c8e62-be41-444f-b237-68450f227a5e phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:2be2ad8a-4315-4fe1-905c-a8a54b32e9bc phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:1f2e6239-3d37-42d0-9000-9ea33e202bb4 phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37875108 uuid:5dac35ed-2009-41ec-8367-60f9287bad66 phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:6577aa62-18c4-4aa9-88f8-7beede7e64c5 phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37875108 uuid:e3af2459-c2f1-4227-aa60-32ff4dae4dcb phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_disease OMIM:301115 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37875108 uuid:c1a7ba41-dd98-4a4e-a28f-6d35f4f1adbb phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:has_gene HGNC:23357 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37875108 uuid:5b0d32b6-1152-4b83-a892-fe85b6aa3bb9 phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:37734847 uuid:1325da37-3289-4200-bafd-56fcbad72b5f phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37734847 uuid:b3d6b575-e5ca-4dc1-8486-95a8eb62e762 phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0007641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:37734847 uuid:956bfbb1-ad03-4e6d-bce9-88c2b049bdab phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:37734847 uuid:3d886458-f150-43e6-a41b-f8550ae841e2 phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:37734847 uuid:c171b40e-af7c-453a-ae83-28fc9dc9b43e phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:37734847 uuid:e588bc37-a5ad-41c4-abeb-301c424451c0 phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0000572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:37734847 uuid:8e1a1744-a8c3-4e64-b6d7-9587a1f98361 phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37734847 uuid:e848a5f0-bf29-4383-a923-aa9613c4129a phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_disease OMIM:620629 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:37734847 uuid:77701f16-d69e-487e-8682-183cf0943918 phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:has_gene HGNC:19691 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37734847 uuid:ca07c938-b42b-4248-83a6-f7375d155a6a phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:37734847 uuid:5fd393e6-ddde-4ffd-b3cd-bb936b0703a9 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:37734847 uuid:41335db0-fb85-49ed-861d-ff534f11d563 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0007641 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:37734847 uuid:c2b2b712-9194-455b-8dae-a1e905a7fd88 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:37734847 uuid:8731ccc0-c348-42fa-8f1f-df70b4d7cd42 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37734847 uuid:3b4fc543-0aab-4548-b52d-9d2dcd1a3e34 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0000572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:37734847 uuid:bf6ef4fc-a2a1-40dc-a3e9-733924c4ab23 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37734847 uuid:e7070083-80c2-4632-819e-3e98d01ed235 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37734847 uuid:b7862933-2aff-4efa-82d0-ebe245ef0d39 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_disease OMIM:620629 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:37734847 uuid:9f6ab65d-d062-4395-a8f5-d2b51ed420a6 phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:has_gene HGNC:19691 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37734847 uuid:8d416cd9-5a88-41a9-8c75-22f26701310f phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:7c7ebbbd-9164-4648-9f66-4938a5b7e911 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:29ed4498-54f3-4b8a-90bd-182c90033624 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:9172289a-dcc0-44d5-80df-a18578f71993 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:149daa56-044c-4f0c-9778-086cb344bbb9 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0007030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:def94c86-e682-4b37-85cf-6095f80bfa1b phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:c0387da8-bc31-4a4c-a534-38b1a7553ac4 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:23cfdbf9-88fc-495e-92e0-5f314c03e660 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:580ca1a0-de3b-47f2-87b3-4e7b5bc7c9d5 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:116aec06-a711-4a1d-9cea-49d63f04f3c2 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:62301b9f-a446-42c5-8b51-1a918fdda408 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:9da6feab-0f26-4041-9672-3b4a975d3c90 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:437fc79d-69f1-486a-abc5-497fcbc82f80 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25845469 uuid:f4d1f1dc-1182-4b4a-9b89-0559b79cc566 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25845469 uuid:cbdecfb8-019b-485c-a75d-300fcdd22092 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25845469 uuid:fd60ea46-4c6b-4434-8689-b7cabf547ba5 phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25845469 uuid:fa3becc1-e072-40a6-9cce-8b6020d4f6ff phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_disease OMIM:614249 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25845469 uuid:775a02a1-b5dd-4882-b972-bdd3666ac25a phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:has_gene HGNC:2372 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25845469 uuid:c62e8856-5fb0-42e7-8c00-31e1d09834db phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:25845469 uuid:182d408a-254d-4374-9e7c-545f678f6161 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:0e3c7257-c2c5-43c7-8bd8-db4364785aa1 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:267d73e1-a094-46ba-b0e2-da5a5f7f7c03 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:9f49b4f7-3730-4e2b-b232-99f711d0dafa phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:036dd5b0-a30d-48f8-8be3-e7a347fc8020 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:192ca961-3def-460d-92a2-c774cc6f12b0 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:ad3b2f95-f322-4a45-80a0-aeb88e37525c phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0007030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:de7ec846-8645-46df-8616-41a900da1188 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:d718953e-e2ac-48e4-9344-7a37034afd0e phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:84d23972-14e3-4f7e-ae81-161969b1d79e phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:e0042944-1688-409a-a4c3-7a444cd1cf03 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:5662188d-8aed-4dde-96b3-c59f65a338a4 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:0583a497-608f-46ca-b32b-a89cf55be356 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25845469 uuid:beb8c2bc-9238-4010-8d0c-708f568f7c6d phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25845469 uuid:c6f3071a-7e5a-4249-b450-7af678d82b11 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25845469 uuid:8d4b702a-b9e8-40dd-8b5c-ac1064d8c417 phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_disease OMIM:614249 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25845469 uuid:cca7b5a1-e6e8-456e-8d5b-bd36409f655f phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:has_gene HGNC:2372 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25845469 uuid:38b39cdf-ecf7-4ae3-a05c-2079af7d7296 phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30847200 uuid:53620862-70e6-439a-b29c-403dec7bac58 phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30847200 uuid:e124d104-6746-4f13-8c9a-72652d9c1c16 phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30847200 uuid:35e6d63c-8d81-4140-84dd-e0bd88f9299a phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847200 uuid:efcd2c7b-a8e7-4c8f-a681-41c9c4b5c63e phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847200 uuid:9f7049ff-45ed-4849-b368-d24d66d1aaf3 phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847200 uuid:f154ec28-664b-4d89-8a1d-3af99ff8de94 phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847200 uuid:d7772a0f-5ce5-4378-ad05-85be2569ae0b phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_disease OMIM:614249 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:30847200 uuid:d1f3ba04-e7c7-4dc8-862c-84055238a352 phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:has_gene HGNC:2372 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30847200 uuid:36776981-1d28-4317-a389-69570b762000 phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_phenotype HP:0000876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:f060a067-40fe-4272-a048-3259878b4355 phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:4f2eb8c8-606c-41bc-a3f2-826e4550e3bb phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:72bb1a0f-6523-4f4b-a883-561e70295b40 phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:daf749bd-6119-4dcc-88b7-22c35bda675a phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_phenotype HP:0033085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:c290e8ac-f619-411c-b078-813b89a4d291 phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_disease OMIM:620686 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35991565 uuid:6e27709b-a517-405f-bb8a-43ff1fc01716 phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:has_gene HGNC:28569 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35991565 uuid:59a29a3d-59ae-49d4-ac94-64286e633587 phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_phenotype HP:0000876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:31000419 uuid:0729359f-be15-439a-9341-de841c57d2e6 phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31000419 uuid:72fe92fe-f966-43a0-b51d-0b92db06724a phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31000419 uuid:8063aca0-cada-4381-80ec-6f0405a0348d phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31000419 uuid:d94373ee-a9c2-4151-85a8-2890f88d8096 phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31000419 uuid:917592ef-4a05-488f-83bf-25c31d2181c9 phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_phenotype HP:0033085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:31000419 uuid:b2c6f338-542c-4c29-8cea-7b7a903cc8c2 phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_disease OMIM:620686 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31000419 uuid:a1e7ef66-eb57-4b86-b971-08016fa93b7e phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:has_gene HGNC:28569 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31000419 uuid:05ac0591-51fa-4ed4-b8b9-4d01c8966613 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_phenotype HP:0000876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:31000419 uuid:6288be97-8fc4-4e8d-9dc7-caebebefcc10 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:31000419 uuid:ca8ce985-9ae2-40ae-9e37-40b1c1226505 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:31000419 uuid:b2c2d708-34b0-4ac1-a39e-a9c697c07ea2 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_phenotype HP:0033085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:31000419 uuid:68e02581-903e-4e7b-ba9f-a1bb15d3cff1 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31000419 uuid:4ee433f6-92b1-48f2-86ee-83e3c8e39813 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_disease OMIM:620686 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31000419 uuid:456e87d9-d63a-4884-a374-6f5679b98180 phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:has_gene HGNC:28569 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31000419 uuid:110b5c74-7a88-42be-bdb4-3183a7997d09 phenopacket.store:MEIOB.PMID_34392356_PK_INF_602 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34392356 uuid:0a1307d2-93c6-4e11-91bc-ea9ae9f982a4 phenopacket.store:MEIOB.PMID_34392356_PK_INF_602 biolink:has_disease OMIM:620686 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34392356 uuid:19864a30-6c64-4aed-888a-b84db49682e1 phenopacket.store:MEIOB.PMID_34392356_PK_INF_602 biolink:has_gene HGNC:28569 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34392356 uuid:f1c6b33f-0c04-4e83-b925-892be9f56869 phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:80197c5d-712a-455c-ba27-bf9acd3b6372 phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:30973d17-19aa-433a-ba90-8953e1c4def5 phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:bf39019d-ba6a-48ad-8ce0-12f4416f809d phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_phenotype HP:0033085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35991565 uuid:f030f845-e5ab-4bdb-a253-10bf7b2d932a phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_phenotype HP:0000876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35991565 uuid:04f5a8cc-6b3a-40ec-8090-c402dde7889d phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35991565 uuid:659d84f6-52ad-4ac1-85f0-0f828d8d110c phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_disease OMIM:620686 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35991565 uuid:dbb66861-c295-4dbe-a9ff-8a91a28514dc phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:has_gene HGNC:28569 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35991565 uuid:2c766034-f863-4647-9456-55e6a925c89c phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:d1f37315-4ffd-4370-8d9a-5896aff354c0 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0025693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:702c6242-ad9a-41ef-bbcd-2c1623e94378 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0011748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:9fe5946c-68a6-415e-a508-58be672b31ab phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0500167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:32507a83-90a2-4bc4-ac9d-7e39f6eb0301 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:ace47797-4660-4ea8-8b0f-f93d3d183e7b phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0000870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:641a05d3-1ec9-4b4b-9cb5-0a6d4f28d224 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0008200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:995b3c81-c6ed-43fe-8989-069fe3e9a52b phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0002588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26239674 uuid:71154ec4-d542-42f4-b5b0-ed21bbf26067 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0100570 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:26239674 uuid:abb92f6e-a52b-4257-a93e-0f6b28d236d5 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0100522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:26239674 uuid:1955e3e5-d59c-4164-8d43-ede5ac7f4829 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:26239674 uuid:31ed3e25-1cbc-4dee-a930-f93987082109 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0012587 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:26239674 uuid:7d497bbe-fbed-4cef-9bba-b3893bb03b97 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:26239674 uuid:e8672bde-16b8-4d22-ae57-c846cb081267 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:26239674 uuid:1c095193-0cff-4737-8d47-dcfd5e1e3409 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0100829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:26239674 uuid:58661f93-72bc-4785-a7c3-fe94c5906014 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:26239674 uuid:129de3c2-af4b-45fd-94d6-f3df91907137 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0034953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:26239674 uuid:e569229c-6688-4d66-8d4d-1f74e69a2e8a phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26239674 uuid:39ecf061-b233-4ec2-88cf-08e95bc3a215 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_disease OMIM:131100 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:26239674 uuid:934ed1f3-9b06-4b27-b779-8feb13bd10f4 phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:has_gene HGNC:7010 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26239674 uuid:97ed3f66-c155-452a-ae30-80e8cd3561d8 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26956144 uuid:73d0aacd-e4fc-4796-bb47-189efc8ecd89 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:8114bd38-3600-4fc3-886c-69370491f572 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0003448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:cdf1965f-6a9f-425a-8510-06906c56aa38 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:27f282b9-3338-44ac-85ba-0eaf56503721 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:c6295016-074b-4acc-859c-5384bf7cf7ca phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:43ffce3e-a0c3-4354-9e11-2348a8873dd6 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:e48a4843-377c-4610-b89e-d7c7095f63ed phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26956144 uuid:dab19fda-b053-4c9c-995c-b7ce7cfdf11f phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26956144 uuid:1a84bb8e-0061-46cb-9921-23f28dbd12fe phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0010875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26956144 uuid:f9d6860e-1bbe-4ddb-ad2f-b7b05aa36ad9 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0030180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26956144 uuid:25641663-b2d7-4d20-9ab7-6d98dae3b938 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0030181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26956144 uuid:1cd03009-8df6-41e0-a67f-4575c1ac2488 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_phenotype HP:0002921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26956144 uuid:d2b72dbb-be7b-4561-9b2d-c8e4c220455a phenopacket.store:MFN2.PMID_26956144_patient biolink:has_disease OMIM:609260 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26956144 uuid:77e96de2-8dc6-4fbf-88c8-6a9902fb8c75 phenopacket.store:MFN2.PMID_26956144_patient biolink:has_gene HGNC:16877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26956144 uuid:e1d3ee35-0f71-405c-b531-1174efb4c821 phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10851256 uuid:fcd38e45-baf2-492b-9a0d-950f877a6cb7 phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10851256 uuid:1f2a6e1f-72ab-4533-92de-443ef587072c phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10851256 uuid:fbcdeb25-6ea6-41ff-889c-f971f883d27e phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10851256 uuid:e3ef9274-94ff-49d1-9748-7fc3f5de349a phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10851256 uuid:c73a6458-9c0a-4164-a0da-9b14bb95a324 phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0007513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10851256 uuid:13d18064-5acd-4611-9b54-26b261ff2d70 phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0001100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10851256 uuid:675aeca9-6fb2-4e2b-9878-d48ca023d011 phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10851256 uuid:b4c1df88-eb11-4960-836c-7906057e6751 phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_disease OMIM:103500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10851256 uuid:54c83d9d-8490-4160-867e-0a0d85374a7d phenopacket.store:MITF.PMID_10851256_family_815 biolink:has_gene HGNC:7105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10851256 uuid:3add28c2-e0f0-4b61-9c2e-8f76ccc4efbf phenopacket.store:MPL.PMID_14764528_Pedigree_of_FET biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14764528 uuid:a4929b2b-ffb7-4d8c-9dca-5364752bfed0 phenopacket.store:MPL.PMID_14764528_Pedigree_of_FET biolink:has_phenotype HP:0005513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14764528 uuid:bb744305-59dd-44a2-a501-1cba44f60419 phenopacket.store:MPL.PMID_14764528_Pedigree_of_FET biolink:has_disease OMIM:601977 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14764528 uuid:738fc345-2762-475f-bc43-0c2d7b9db612 phenopacket.store:MPL.PMID_14764528_Pedigree_of_FET biolink:has_gene HGNC:7217 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14764528 uuid:a0dda69a-8e64-4730-aeff-7ee205b1241c phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:85c00874-a98c-48f0-8352-ae8028181fdc phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a6819838-dd48-467c-8ce3-69ba6e223c3f phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:673976e4-ebbe-4700-9c7d-bc1f651ecdd8 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:c859b462-16a8-4de0-b52a-e725a3786a4d phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3a029153-3234-4557-9cd1-9654ef25ce52 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:b9006e07-1c7f-42b3-b6f8-9e8c36cfa3ec phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:ffc96f44-c4c5-4e2e-9b2f-dbc8b4a3c3f3 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:715b1fdd-ae35-4be4-bc53-cab1d2fd9753 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d6ddc5d2-dcd2-4b2a-be9d-8fb3d71fbcb6 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e7467516-123e-4e93-8993-fe71d2d73dc5 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d4114065-350b-4bc9-81b4-e4f1b3c77c9e phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ffaca4da-6f6c-49e2-8e2e-42b1c9a99719 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0872dbbd-2de1-4305-9196-39d26b2f7440 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:44e0bf3c-836a-4a70-ae49-3c925654d6f6 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:63a62fda-3ed6-484d-ba0a-6807493b73ee phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c811daa1-846f-46d6-a9e9-04316c9b02be phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:abc9f438-9557-43e6-8127-d46f3c832235 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:22b42152-3cfd-4411-9e4f-ac9986c9805f phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:12fc72ee-5066-442e-b461-8b2ade532f85 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:35c1f2a4-8ad0-4e1f-8372-3f6d03703f6e phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7737b847-419d-4cb4-bdee-939417f779b9 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P3M14D infores:phenopacket-store PMID:23714749 uuid:e72356b6-364c-488b-b69b-27c114f522ca phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:46ef345b-d29d-41b7-84ea-9e64b4c65a60 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:849feaf4-78ca-47c9-b840-c5355ab7cfd3 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a542a0e9-38ee-4af6-b9cf-e831e6111264 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:6e1fb4cb-f6d5-4a48-8615-2d655677703f phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a5f76fc3-7fd5-43b1-9201-25a168bab91b phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:b6e0969b-2c91-4815-8b78-7391ba76c72b phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:184e030d-95fe-40b6-bcdc-05f25d6ed597 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e467ef0f-ee61-4b6d-9bf5-47d55d2f595d phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9ee72796-c027-4103-a564-6a665fc178cc phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b31b8ad7-1177-423d-a812-e50c3d6aecba phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:93054fce-e960-4841-9a8d-f6e571a5e7b9 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:53f89d90-a188-478c-8548-8f6b89837d11 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b5864e52-cfaf-4b5f-9eda-e384015fd1e6 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2d109d9e-585b-4c28-947e-707313a58f61 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5150ff73-51e9-4edc-8f47-e7a559d930fb phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8c0e895d-dc78-43f3-aeca-98b4737ff215 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0a47e335-49ed-4ab1-9ce3-c9ff5855bf98 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:841614d7-cf8d-4306-bf7e-7ef725e9590e phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ecd94b91-89f4-4543-9e12-b4aa04594fba phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:203cab31-bd07-4335-a319-558c7dc31ff5 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:23714749 uuid:d1cabca4-086f-468c-8e9a-daf0ae522584 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:abe9aeee-5b0b-45d3-b710-79d802208379 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:f57f31d3-a402-4f71-be7a-03259b3c44d3 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:a1dc4ca9-a6b1-4568-931c-5f41964a4943 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:8e49b930-b7d7-48b2-b2bd-b4add5df681d phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:1831e1e2-fd93-4b4a-afc8-25e10ae8545e phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:0cd569a6-8676-427a-86e2-72a3e842bc94 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:5785fb11-8ab2-4a92-8cc7-f0f7da2ad32b phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:4690e6f7-d93d-48e3-b7e3-18247c362e3d phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:c9f47313-a8e4-41db-b83e-0a13e5c2bb43 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:a78a7532-0de1-457c-bdc4-c071a8a4802d phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:398d5ce5-c819-4684-adbd-fb431d2ecad9 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:05ef3b53-5f1c-414a-871d-5e079b776033 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:f3a1f6e4-6db3-45b6-9c85-89888f578438 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:696fb07d-3964-4a09-b122-256acdb9a899 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:44f001f4-f1bf-4674-ae67-9db705db3d24 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:37cf12de-8da9-4964-8af0-6e8fc371ee5d phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:0dee9027-775c-46fe-91ff-43662f395df7 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:5d465f51-b95e-46d6-a13d-f25d5d50ba04 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:d43e2367-4631-4d4d-96ba-7cf574bacbed phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:e110b0e9-7370-488d-b63c-88299686345e phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:27a69c25-c7ce-47b2-a597-edd497e1a9aa phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:9da63f5a-2a85-4efd-aa60-41972a0540ed phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:20074988 uuid:8f7a5c4d-a42d-4fe2-8541-cb8409a41fa8 phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:d0e6465a-0bf1-4af4-8cca-550012504860 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:16909392 uuid:4459eb17-e5d8-4c6e-bd02-f73c516ce09f phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:16909392 uuid:584335ab-8833-47f8-8d13-fd0d4edeebf6 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16909392 uuid:ba6e9503-bf9b-4793-9fe3-7a2cbdfe510c phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16909392 uuid:68894a9f-c02c-452c-b4cd-fd7ad8510de9 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:16909392 uuid:a84de3ff-e1b7-4728-87dc-bb15b9a5271f phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:16909392 uuid:6295977a-98ec-4c0a-b81a-a0e5c2c5ae29 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y8M infores:phenopacket-store PMID:16909392 uuid:bfb5b2ca-9734-4f37-b85e-d7f5af041484 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:2a911809-25d9-46c2-8c11-ee04d39533d5 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:0d342ead-5e4f-4176-9b55-ea9c8a9781b4 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:f4a57b34-d88b-4b32-b95c-2d736e61f7ac phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:84a1a202-cfe0-4f12-b793-44548cadccd6 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:29dbdda8-3679-49e6-a82d-05c8c6971174 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:aaefb20c-8978-4b34-a071-a8cfe4db35b4 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:3e237d26-0118-4405-af0d-fef72e9a3c0a phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:3ab45754-5491-42a8-9f17-46d59e3f5819 phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:3058d2a6-4bc8-47bc-ad4b-919c8b5abb3c phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:16909392 uuid:1c018ccd-ad0c-4386-99f4-5067c74cbcec phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:735a0947-742c-4b4c-9034-9589f644f89e phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:16909392 uuid:4660bd99-2496-4eb9-8a08-5f7a95c01052 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:16909392 uuid:4a0f5691-ca95-491a-8fa9-79339496423c phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:16909392 uuid:556a04d6-00f0-45f0-b910-47fbf25b565b phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:16909392 uuid:b3856375-b1bf-4cec-a0f5-a906e3b5faef phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:16909392 uuid:c96e46bc-63a2-4937-ba38-87907699c1b2 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:16909392 uuid:17f5614a-e447-4fc2-8a33-380bf2e77254 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16909392 uuid:238f1063-d175-4f4a-9e08-f7d4ea2e6ef5 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16909392 uuid:f887f835-75ae-4666-a386-06a5e4394cc3 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16909392 uuid:5657cba6-1b4d-47cc-bf00-f621489761c0 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:b4a60cca-9b8f-40a1-8f17-fc0b2491dece phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:2b2efc91-199f-452d-bdb7-97cc7c6eb71a phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:7acda107-1130-4817-a2ed-36c75ee13bd7 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:1e75ab9f-7fb7-4993-a334-9b8f185ea94c phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:8bdb41ce-39a1-486e-a0e7-e815feca3250 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:06885ff9-d8b2-46ff-820d-7e2ca013ba4b phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:c4873b80-5506-4fe8-9283-7a326a175c15 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:5ff4c5f4-37e5-4b44-a01e-e2fe4cfca696 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:e24456c7-c913-49c8-9c2a-2cff9e855050 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_phenotype HP:0001402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:c13a6267-6713-4d81-9167-64b1d185f130 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:16909392 uuid:53489204-8dbd-4ba0-b5a7-d71648c492c6 phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:bdc18831-d49d-4925-b843-018e15f1593d phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:29318572 uuid:6727cbc1-e4f2-48e9-94c9-0c39a74fa122 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:29318572 uuid:2547f431-1a9c-4079-9f3a-b5e7aab943a3 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:29318572 uuid:c7ab2895-3df4-4d2c-9bef-37f4a1d6b05e phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:29318572 uuid:0b43342a-4124-4457-9fa8-d23ac0f23897 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:29318572 uuid:c0196461-9b18-4033-ba1c-1f42df3f251f phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:f1ade8c1-7caa-427e-9241-8b19bc9932ac phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:6faa3368-0e1c-4800-8eaa-6293dd2d145d phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:748aaff0-51d6-4c57-a6de-8647bfd787c6 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:d3c6ad2a-9ca6-4941-a2a7-02c7b5a5f84e phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0001406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:3c162030-a1d1-48b7-ab9b-cceaf0f6ff58 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:b8ffb9f6-f7f2-4248-9637-fdbddcc84518 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:fc3f99a3-47e7-46da-8b7f-a57c08e1b29e phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29318572 uuid:c1b6049e-e24e-4520-b887-31844785f683 phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29318572 uuid:404d00e4-b8a4-4a7e-95a2-e9cdc1c63f2a phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29318572 uuid:4662f94b-ebcf-4d89-b005-d5034780c34f phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29318572 uuid:1ec0b236-bfd3-4dbd-89c5-a0d05b273547 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:69efc3ab-b72d-4b86-a578-e77d5c088c3b phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:f4653be2-55bc-4e98-b180-2ec7cdf7c350 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3d42d3e1-6e11-44af-8167-9fe56afa984b phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:de0a58a6-56f7-43bf-9815-25ece0492b06 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:fa4a8736-f606-4565-810c-ad10a3ed5afb phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f864d94e-fe1c-4695-b724-2deef31bbdc8 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2694abb5-60de-4ed5-997b-25f1c7fd9256 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2db0263f-f95e-4a22-b2b5-c6820ff1d3af phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0e52e22b-b0b2-4978-9db0-70616348b723 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:47cad2eb-31d3-4b23-a78a-95d6333a721b phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8c09addd-39b2-4026-9a1b-8b500f61d9f8 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:1b37a7a3-6fc0-43b9-8463-24256455d65c phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8f05af9e-fee0-4ae4-b4dd-770b36de838b phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c0959f18-350e-4e34-8302-ccb899d82357 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:53e507fd-f131-4548-aeef-caec99f8d557 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:1707756e-3f74-4fc9-92d6-4fa267a71309 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a58fff47-fe5b-477f-8679-3025418d0982 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f09e9b24-896f-42f2-95e1-6b671d67287a phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d16342c7-fa9e-4731-b77c-59729d1c9b6a phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:23714749 uuid:c9e02a06-01ab-41c5-9a8f-fbce9ddae451 phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:694b8dac-41e9-4c3d-a6f2-a86452ccde3a phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:42379fb1-0063-47ab-ab81-1c9be5fed808 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:e19df048-3e4f-4c22-8e9a-d946467d28f6 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:55257c9f-7153-4f05-aa52-cda6d071557c phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:e9519200-d0b1-419a-afe5-1cc3d53a18e3 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:50b2b997-c5f6-47e1-ac18-6b4606ef305d phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:0d94ad95-b8a5-4e80-8772-c203c8a978c3 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:a9316c47-f652-4f15-be7f-06cb64a416a6 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:18c6b3b6-29f0-43a1-a1c3-2a4b8bdb1092 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:612d520e-1e18-433c-aca2-38dcd4400cea phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:ea31a8a8-cbdd-4e65-b46a-1057de68c09e phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:f5dc1ca1-0f6e-4836-b23d-82618b6942c9 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:aeb0d38d-848b-49ee-99a1-f158340dc9d8 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:d6ef3b86-d51e-49ad-aa00-826e78600933 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:c990d990-5162-45e5-878c-470bff3b4a11 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:58111c16-81b3-46f8-93ff-612c1cd7caca phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:67f7a68f-2a79-4b1b-b605-d7ce8d7df005 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:8000e5e0-0ce8-40c5-b409-f2549346922f phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:66f25ada-e3bc-42a5-a7b7-9b76defcf361 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:eaf08dca-bd5a-42cb-b8dc-3e100681b244 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:4ea921ef-e069-4a31-a7cd-6fc19929f27a phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:9c9be1a1-513b-48b7-8efb-c602c1e55269 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:ac310900-aed9-41c7-afa4-3998c050e256 phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:e6df75fd-d915-4ae4-a304-1d63ba90ebc0 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:50e5fcef-f8c7-43c5-9095-e6919d707b12 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:aebbae67-3180-43a0-b17c-11808f4af8a2 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:f829c218-5c9c-4652-842d-23c29b039351 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:9aa06c8b-c0cc-46f0-99a8-7db7bd88653e phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:04c84f1b-92c8-400d-8f3a-a30c784fda05 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:29686ed0-7f32-4584-b182-ff47d1a3e157 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:5c767a55-cfd1-4fec-9183-8da7f9c42832 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:c154bf33-fa45-44e9-9dea-05a4241d8c71 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:addcab45-6e33-49b3-9d92-9168b686dd4e phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:21a9b5f2-c047-4a67-a663-f05798ac06ef phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:80ebb858-303c-4b3a-89f2-74c65435e7a4 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:e825e24e-1200-4318-ab75-a2498c93c9a8 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:734e78ae-f8c4-414a-864c-645027e54617 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:ae4b9f18-3d0c-44b3-9128-addb61c0f531 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:abbd92e2-525c-4980-a941-12700fa4c690 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:2029a74a-9b18-4522-a997-240ccb74c226 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:66a3fe51-1f2d-45c6-8a2c-7a53d0e476ae phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:8d5e7ff6-7d13-464c-bb27-d000c114cb6b phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:f52de049-0c2d-45f2-b704-f609d8a7c349 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:9e483e62-d78f-4b4e-8c12-29827ad04dd9 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:28153e64-3649-4639-bc91-1f4195335473 phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:995050e8-757c-43c2-8b24-329149984c9f phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:58ecf878-5c43-4056-b697-04b65ecdb1ab phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:18695062 uuid:a166cca0-c9fa-4f0b-b24d-4e25ef593439 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:18695062 uuid:c541a646-7bd1-4783-b4cb-beb441090147 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0003231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5D infores:phenopacket-store PMID:18695062 uuid:3223a293-b9d4-4321-b88e-1ae7d7d42b26 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:18695062 uuid:7d7bf05f-8b68-45f3-b8ad-aab9c049dd0a phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:18695062 uuid:a93bbf22-02ba-41da-b692-592369b2f557 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:65aad558-dbeb-4b65-b36e-a44c03d29832 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:62821650-c6a6-4e3e-b245-da05e415c9cc phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:d41f0655-f130-4b72-81fc-0796c5231c92 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:1545d552-c484-4ac8-b177-7c03945fbddf phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:fa9e7524-ad33-43de-858a-af94ba518e46 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:05968175-446c-4c59-9282-34f272f9d025 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:efc80c1a-4032-4275-ae2c-a27b5b4fd48a phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:b294a482-8092-4d92-9ca4-2a8ac9641234 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:c3d49437-fcd2-4163-acc3-4b06687862ed phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:c2007336-69df-4c6d-a6d8-35e859e7a045 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:00107000-484d-4ccc-b5e0-25a9b4844d32 phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5D infores:phenopacket-store PMID:18695062 uuid:0c047186-624b-4b81-946d-83b7c41c5fab phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18695062 uuid:7eb81c42-f714-4f04-ae44-bddf3a92ff33 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:11ca4d26-664e-4f02-908e-86315a8bada6 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:868e41e7-88a0-4cf7-b3e2-bc62f2990d98 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3649b0c7-3c8b-4052-9f06-0cbfa64ccc6b phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a365c318-4a27-4147-ae66-29d801c68209 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9945faa4-7da3-430e-a124-33b697ad5fd0 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9c69fbe2-7cf1-4edd-9657-c7beafab242d phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0553a18b-7535-4ca8-b011-3100e73fc5c7 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:dd993a63-8d36-4167-83aa-8644945c9d24 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2066f879-2af3-4e03-b9c0-4c5c2ad807c2 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2644fcd9-a6e8-437d-9606-caf57fe1c74b phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:303d330a-113b-4c10-8f82-f295ca876f93 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d61068d0-e541-4db2-9a3e-e5ef15347d5c phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:318e890f-3873-4119-9963-1117d4d7a2ee phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ab83dce6-566d-416c-9920-542a1757cd80 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:51c1d505-15d1-4666-9830-eb2be41a771b phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c69ca42a-f417-48d4-ab5b-1cb82d6315e4 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:cf71bb78-687e-42c7-b064-2664513b42bf phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:a8a0215f-78e6-4744-9578-76d9db678f44 phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:d47c3f40-e6eb-4e21-8693-d0a6a0e933b5 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:31664948 uuid:cd0dcf1e-1e42-49c3-a1b0-8fd28908e3ee phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:31664948 uuid:816a5275-22db-45e4-a061-6ec08d077894 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:31664948 uuid:66c90d54-24e2-4444-9b5e-da1b3b624bbc phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0040319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:31664948 uuid:7bf0a064-f989-4587-bc48-9bd54ddf1f3c phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:d1ba0baa-c238-4524-a0a5-fee3a88a8778 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:b5bc5b67-0d72-4241-89a1-7878f4ba5a45 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0006254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:5705088c-4097-4a7f-850c-bdeea358f163 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:cf11fc7c-6ceb-43a4-b78d-1f33282c4285 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0003231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:64e29822-9304-4253-a2ae-e782a004a4b1 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:c4cf225e-cab8-40c9-83c8-666f3b5ebae5 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:49341b93-f459-4bee-bfba-c80e32794fb2 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:8300472e-cc84-4eb3-8135-2701b16ce042 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P16D infores:phenopacket-store PMID:31664948 uuid:30b01417-1295-4eed-b1ea-db4b3426b104 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31664948 uuid:9cccff17-ffcf-4826-8048-35c15aaa57ca phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a5296907-f3f4-4125-a478-e1d710097032 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:b4e2f2d7-9bd8-43ad-b37d-b7b5cc469d0f phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:029008d4-8d03-443a-bb7f-9c85e686b262 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:1fea68aa-b854-444c-8cfe-66fdae8d09ba phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3aa60520-7c2a-41b1-b54e-74ec9c2b4260 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a703bf77-5418-4a46-8a9f-399c49e11410 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:131c3a78-368f-4c0e-aea2-7ad01b427aca phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c001cfbb-dc78-4baf-9a5a-eae9318f371a phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3d6af1ee-9866-4464-9f46-69987f2b2487 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:6039a65f-cc19-401f-afac-9a90612394f9 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:20311ef4-553a-4334-8de8-850befd1c19e phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:bfec6e1f-5dfa-4de1-a8e6-89b2688cfc53 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f4ca4c61-33b6-4717-ab63-33dc36dd5814 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a97c394e-9681-4a43-a68b-09f226872e06 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ef23e6a4-c3f9-44c7-a5d6-e8c23e110a5c phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:73b8814f-1311-4d91-b33b-19c7b1786647 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3e61661f-6198-4196-8f52-cebf0644102e phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a110e798-8bf8-40f2-bf11-a5103d6f7d1b phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a95ea031-3527-4f0a-8412-6c5fd7faa525 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4180202e-b48e-4c25-9a8c-453eb856c385 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f97e8ebe-12dd-4ee2-8145-b22d8d93e7c6 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9d139ee8-9ec7-4967-97de-bd7174f8b6a2 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:23714749 uuid:762cbf75-508e-4004-818e-0c3faa4230b3 phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:fe911964-4f8b-4b0f-9bfd-87eb8eab7152 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:27cf826c-6e5a-4236-8191-c5255e8e5daa phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16909392 uuid:2407ea8a-2991-41f8-adf2-9ae1878a821d phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:5df6e558-1845-4980-bd21-31791449b593 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:c31c5a18-11e7-4993-986e-a4086a819bb0 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:29e565c0-240b-490e-a3b7-eb1279bb918f phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:16909392 uuid:92db2e4d-2909-4a78-9f1f-d883c3a9e564 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:16909392 uuid:fd725dc2-096e-45c8-93b0-8d5d4a72fed5 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0000559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:16909392 uuid:4ba6148e-dec9-408c-a9cf-7351e2aa8980 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:50c89395-cd89-4985-a0a5-ba21b682af65 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:07655d1b-18a7-4e9d-a679-9f2023cf43d6 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:fef06732-8969-4ee4-a010-cdb43a9b2cfe phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:b6e18cbd-5feb-4147-b7f0-749d003f2a7f phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:2dded1fc-28c3-4c39-b88b-0c6e8934330d phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:abffbe0f-a74e-4bd0-9d8c-54a533c37a59 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:9cba4342-48f1-4cac-b463-08badc9e3b40 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:e2d8961b-9ae7-4176-9cf9-ff4d14dc9b6a phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:539e4c83-54c2-424b-aca5-9cd6f2e56b02 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:eb9860c3-abcc-471f-874e-51503c62e991 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:a996cf8c-4029-473a-b29b-c472fa97e0ec phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:e6cf4ae7-d311-454c-9841-d90ab5b8f913 phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:c5423cd8-b0c7-4863-9874-055818b6b4dc phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:23829229 uuid:869b615e-cbcd-44cf-95de-1ada7abb39ff phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:e288face-cc8e-4c1a-9226-5ef78e18d958 phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:6ab3fc26-fe02-454b-ba7a-f758ea5a02fc phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:31e17200-b505-42d4-bcb6-0913d0cbfb9e phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:a0a38692-1863-4446-9d5b-8233617fcffd phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23829229 uuid:3bd71eb2-d79d-42b1-9785-bf0bf0995a9b phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23829229 uuid:f7d76f7f-d950-4b19-b4a1-ba6afd87cb19 phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23829229 uuid:89be8e1d-65f1-4e4d-a173-9d2e36ee60a2 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:6f026fc1-a6b5-4992-b542-1be312eb390e phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:478b70f8-c9a3-4faa-ab89-6d6d7e747271 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0006858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:35aeaff1-925e-45ab-9d36-0823cfa018b8 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:87a84439-5e5d-4b48-9f77-8e83390cdd1b phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:95f9166a-f3df-4f76-95c6-27364bcf2d6e phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:01ad7051-5b35-4e26-9e9c-78a6c6ff4279 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:07ed30bf-ecf1-4b5f-8e22-4b8c6b158610 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:753f2cb7-a04c-4e62-8b4c-9eb22005060f phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:9da559b0-cc33-4328-a3e3-e906cf524770 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:29a8e2d8-cf7c-4b8f-bd14-de618685e1ba phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0009005 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:1e587d41-ba62-4847-a2f6-0fe7c99dae63 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0031374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:b88bab86-69a2-4ddf-9710-ccafaa92a6ba phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:79550132-77f9-4b17-907a-a9420fea5153 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:99f21517-0e65-40e9-9d0d-1a3e2ed51035 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:986ac6b5-d2d6-4021-bb07-45f6dc12cbc3 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0003380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:34979697 uuid:83896816-bd4c-4957-b3e6-1593c878e9b5 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34979697 uuid:0a186896-2baa-45eb-90f0-9f3b4467fa0a phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34979697 uuid:142fc990-4511-4c13-9e65-8bf950e14ae6 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34979697 uuid:db7f29a0-0769-48df-9b33-c300701637e1 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34979697 uuid:eed4ece7-c908-473a-a9a5-6807d27e911b phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:049b1b5a-75c1-49cd-899c-4c88942f8598 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:05658827-0b14-4431-b86e-3c8554286058 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:bffb921f-b731-485b-8aa1-50dd9808d739 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:d781c6d2-7490-477a-ad11-494ab26e6a89 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:a86c35c6-7677-41d8-90e8-c5d03e8d2706 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0003493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:fb974658-f1cb-4d86-a464-772046f7ae71 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:b19940c2-760c-49a5-948a-874e401e750b phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:2ca463c5-a2ab-464e-a784-6529c0deba05 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:90200a1a-95d4-4e04-b38a-5fb972e6e023 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:b82cfc9a-ca98-40fc-bc56-a67c4d873d49 phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:323f3730-d305-4c23-8d21-f5f250e493cb phenopacket.store:MPV17.PMID_34979697_case biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34979697 uuid:5b1e6d4d-8d04-40f7-8f19-0120a466fa76 phenopacket.store:MPV17.PMID_34979697_case biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:34979697 uuid:8cea68ad-6c72-4619-bd85-439b16d148d2 phenopacket.store:MPV17.PMID_34979697_case biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34979697 uuid:24e776ff-9595-4eb8-a65c-f9425d5c9172 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:471af6ec-9e5f-47be-9c61-32ec144d9759 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:e4259d03-5810-434f-9bb1-ce2cb386838d phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:3a29868a-3ca2-4f5c-a33c-155a0a67834b phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:5e0a8588-aa6d-44c5-ba45-f49b9d84f425 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:f1b04f2f-c46e-4df6-82c4-a2ef35f18834 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:3938d866-1db4-4b3f-92d7-eef67e0af317 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:3330390e-7d6e-4180-a69c-4a64a7b7e48b phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:e512dbef-cb28-453c-ae71-70d2b7c419b7 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:1728ebe8-cfb8-420f-a60c-af5b54cbe41d phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:27c43f96-6d64-446c-9acd-a1b5734b7a37 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:968de356-f1b5-4e1e-be80-30e5eac61ff2 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:53ad582d-a297-4477-b8d6-d20900c0c2ba phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:fafb004b-fc66-4870-a5b3-7769b41f674c phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:9e87dd93-9743-4bdb-9278-399e27b486b0 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:0e105269-03ff-49cf-a7d6-7c04d25fdc07 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0007178 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:dc95b981-0ff4-4230-ba3b-44bbf72ff439 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:5cb6de04-ddb7-4f55-b608-aecb42d5f16b phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:27536553 uuid:80dd3c0b-72eb-49fc-8709-308289153886 phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27536553 uuid:75a7a2c6-a2e6-4cc9-b0b2-d9255c20e0f7 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:fc81c160-4864-4dc7-ad80-064dc5b84092 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:799378b2-fba4-4a9e-8126-8c7a537a27dd phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:ee0da0bf-55ca-46de-8f39-dc0b265b8219 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:3414dd79-7439-4b28-9ab3-254606f163cb phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:c3937eae-eeb2-4eff-a891-a14e1bdd9334 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0006254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:1a1ae134-fd14-4dac-860e-302423d0a80e phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:68a0aa1f-ac4f-4e49-b070-883d07ac963c phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:ab33bb4f-fa21-4162-875c-decc7d4f5fa6 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:2e68b759-ed16-4072-a015-e1d77ffb03a5 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:6370c933-635b-458f-91a9-1d28e0c46c82 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:2682879c-1344-4058-820d-cd7dc5994793 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y2M infores:phenopacket-store PMID:28209105 uuid:9bfa0d5a-f0df-46e9-9f32-73de0b25be39 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:28209105 uuid:64eef910-dbb4-4459-a9e2-18c258402b1e phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:28209105 uuid:3e4483ae-825c-4802-a315-6e30d09a71d5 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28209105 uuid:6f8adcb9-dab1-4eb8-bbf9-1fb428a4dfc6 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28209105 uuid:ba67c193-bd71-407b-9849-2cdc0ffabe39 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28209105 uuid:fe47a7c3-bc97-4b30-bf10-f35fa7a23776 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28209105 uuid:987ccb40-2d13-4c41-8a0d-c4cfff155ab5 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28209105 uuid:c98dc797-0619-4f88-87ad-29aa2adcf0e2 phenopacket.store:MPV17.PMID_28209105_Case_history biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28209105 uuid:8606df15-7698-4091-baf5-a59509153809 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:2e5b9186-1f6b-49bb-9233-35e07b61cf29 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:db11f2c4-37c9-495b-942b-325ae172a66b phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:2648e680-d415-40e9-b872-20b2a8c861b9 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:3435dbe3-0b68-4c1c-9fc3-652c67f44786 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:da7325de-f7f9-4fc1-b292-413d6e6c4b51 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:fa441e0a-494e-476e-9a71-d969d83460e2 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:1b719120-a611-4398-9eb4-c6a73e7c28bc phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:8bf2dbe9-4596-411d-85c8-a099fd95b933 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:6bf7d479-2368-4d4e-b70a-6691403232cf phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:da5ae584-4503-4b5a-8f45-6feeaf4f178a phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:e4dee599-6d99-4272-a564-6f9bd66fb790 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:8b6a650d-d8a4-4d30-a06c-e9fca85367a6 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:2d03a530-0750-4292-be3e-bfe00ee163e5 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:355a08c8-6a89-4faa-be56-05359d8d65f3 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:a45d336e-e1c8-4239-a7ef-69574cb1828e phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:46ee3496-d2dd-4d10-9bfa-d7f33d20cc07 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:43a624a1-be4d-4a8f-a994-8097a834e5a5 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:3dddb7d1-00aa-48db-8208-3e04d2977a7a phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:f1bc375b-f277-4757-a041-24cd6841b9ac phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:d0b9cde7-ee6a-4fd4-9c91-0acb30f39eb7 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:ccd7e265-e500-4a38-bc00-4a31fc763983 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:3ade27de-acb5-45dd-97d9-abbd62666f14 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:0716109a-28b1-4a01-93be-c003c853fd42 phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:2ac921c7-f7ff-4193-8c02-b2d360f2de61 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:3625c2f3-3309-41bf-a010-b1e70fce9e46 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:61ca61cc-98fc-4d3c-ba22-9d859220b7a5 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:641c36d1-12fb-4180-ab6d-afd6b6443984 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:094d51a5-c66e-445c-8c6f-6fe08e24c6b0 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:15100594-7996-4dd4-866a-d2822a86243d phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:aa6c637f-5d6d-4d3b-8493-4d5c2e86197f phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:cbd4905b-91fa-4efa-b39b-8dd26872693e phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:e62e0a3e-b788-44ba-9651-7915bdca3629 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:ae546ac6-1410-495a-885c-96ae1a88d3c0 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:8dd1946f-79fe-4bb0-be5b-c1779c4cf1e0 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:ea78d2bc-db57-4fe0-83df-feb94f31d22c phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:7855f159-481a-4868-ae1a-2a4188f299d1 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:a0f356ad-35c9-4655-84a4-112a72fc65b6 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:0cbf1d07-8cb1-4d4c-a964-8d8b1ebbac66 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:30ce0235-bb60-473d-98f2-5a1331bd8126 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:08bdc565-086f-483b-aaab-cf1a5144e72b phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:943b9bb7-760a-4798-b120-982dc5edfeab phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:b24ac495-6dbb-4ace-82c6-e7654ccf6860 phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:3cc62541-64f6-4bdd-b636-6c896e11980f phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:60b764af-5c4c-4c76-92f8-47f05a129f6a phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:20074988 uuid:326c8fca-2d3b-4e06-8a3d-1a47d39afccd phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:98e10ebf-50c8-41c2-9267-613151837ec2 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:f2c35775-5204-4407-9079-c490f0b79efc phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:2a3b6e47-d147-4d07-9790-586b47e17e6a phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:0c252889-2dd0-4369-a0bf-816b572c29e7 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:0d30302d-572b-4858-8138-c6c0593a7043 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:283b17aa-fb01-4347-b268-42ec8427de14 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:a159c5de-1712-43f9-b887-a219101458be phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:ca51f2dd-c0d9-45cf-9f23-fd6818e4038e phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:5f0beabc-b2f2-4a68-acaf-b197e25b467e phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:c99d7e57-361a-47af-920c-e52b8b657f8e phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:2df02922-b909-4e0e-a022-f317105fad7a phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:54f3960d-2437-4346-bed8-b4c2e40e491a phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:cdf1af90-3e34-47bb-97ed-7e8976e70213 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:889b05a8-ae84-48f9-8e9f-9d05d6bb0aeb phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:42020939-3231-4805-8ea8-517be743415a phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:6081bbc8-39c8-4f0e-8694-6099a144432e phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0007178 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:772867fa-e84a-4bc5-9691-94ffe975edd8 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:63294596-a248-4738-880f-717c31047bde phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:27536553 uuid:c86b23e2-a2b4-40ba-82fb-b5eb67245d01 phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27536553 uuid:4eb148a3-15bc-4bb5-add7-400085235443 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3161863a-4b1e-4bdb-ae55-c74d28001b8f phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:f65ddb98-f789-43ab-bfd3-97611a1b2f57 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:c4ce37d4-92c2-4d99-b5ed-2698455c5630 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:2cfa9a54-72c0-4088-88b0-d96f9057a880 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:71b22eef-f4f7-4c6f-ba93-840ee2fff76b phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:fc7486cb-6c3e-472b-bd1b-41756215f28e phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:173358b4-423d-4996-b8a0-5ab907272ca9 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:fe274a0b-6282-4c54-8c3e-918433403947 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:415b88ff-d8be-4728-9e7e-600c94d5db48 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:bfe2d7ad-4280-4ae6-a4ad-e720ecfccc29 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b3ddddcd-ba5c-48d0-947e-5cd08b450f05 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7d774310-b73c-4bb8-a148-274a208f060e phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:45842bca-13f7-46a8-a78d-d23d8cf08925 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ac480b89-d030-4687-8fcf-5ca13b800e1c phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:061df961-f30e-4172-a9d9-520ce21cf69f phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c73d164a-baf1-4ed2-b297-45398fbf6326 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3edf16ce-5c7b-4c9c-bc99-d700e8a41c54 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:31475701-533c-41d5-916d-68522f1fee99 phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:127cbe8e-fcbf-460a-8443-61558b686a8f phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:34c4796f-013d-4450-ac7f-7426013723cd phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:23714749 uuid:20e6557f-4506-4b72-83b4-bf60103b02cd phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:41f01bd9-ab9a-4040-8ec3-143874fcd9d3 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:77784c17-6648-4e3c-953f-ee51451d2f1f phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:1750310d-8a4c-4be0-a6b5-8141be04e117 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:0edf4bfd-e6e3-4384-adf2-ce14e93bfa3d phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0001944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:bb1a0d32-850e-44da-a355-f50102366e95 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:a713c6c4-7541-4977-8123-217cb8c35e0a phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:0d5b7dcd-44aa-4bd4-8a50-75e56bbe932d phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:23829229 uuid:c00c93d8-73e6-4f9f-94f3-8d18b420d243 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:b3d5e346-9f3a-4c10-88c1-2d7a20bd1e74 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:23829229 uuid:a9097c69-baeb-4155-bc3e-4c73c8b84c8f phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:23829229 uuid:d36c9ad5-3c49-4206-959e-20d672b2d704 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:23829229 uuid:b0651e48-6cb2-42c2-897d-51c6fc65007e phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:23829229 uuid:03f5da43-be2d-48ad-8180-3e0b8a2aabb3 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:cadbf162-7531-4fdd-ace1-d69d27027d88 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23829229 uuid:50833d07-9a7a-4d81-a8fb-e7652cc9f795 phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23829229 uuid:e6f804a8-f8fd-477f-a7f0-01e4be451d03 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18695062 uuid:2b185ec6-3a45-4916-a9e9-880dcfe1690e phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18695062 uuid:96b15098-bd46-418c-a30b-f7b1ec3802df phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:18695062 uuid:208eff98-c766-4a8a-b927-322d34b56f14 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:18695062 uuid:a601c260-869d-4863-a598-0f19e909912d phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:18695062 uuid:2a67f539-7261-43ec-b218-5061ff6fe908 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:18695062 uuid:03c195de-34cc-4b33-aaa5-6e98fbc1e42d phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:18695062 uuid:d0e96757-fd9d-438c-9f73-30ff4cfb0b82 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:2274cce8-1d78-44e8-9fbd-6b1ffd55c3c2 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:c86a8612-f1f9-4520-b156-a25e9aad9fd3 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:5480eb43-56ca-41d8-be9b-44ac601b07e1 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:c144abb5-9f85-4191-b414-15e25efecca6 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:78be7f94-7cc1-4aa7-81e5-997ce675a770 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:cefb2647-0575-4887-a6d1-c2735bd1ce81 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0006254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:78ce8228-f2a6-4232-996c-675779bee71c phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:a1414823-1d93-4023-be3e-7274a8895eda phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:303f4831-d1e7-4553-a102-9c9a114e1ab2 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:6f7a3ff1-1d22-4779-bc1b-14823e56045f phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:b85f34dc-846d-46c4-a527-12f18ff6884e phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:a845fd98-a702-4a02-8af3-cde032ef2044 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:3ff6a8f6-2163-4f92-a32b-2f155fdf051d phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:c6828d6e-1555-47fc-bc1e-922dadd64499 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:435d838a-8d89-44fc-9434-aa7dac9cfa1b phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:e1594a13-af6b-4156-a4c9-f9d8872657e2 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:c7c71d2e-2174-40ff-a6c2-418b213dcdb2 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:4c4c720f-9608-4bc9-9f8d-b04668e9b9af phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:08647024-50f2-4933-83c5-70b4dbbd2a84 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:92b0dadc-5e9b-4b1a-9a45-68e701b23895 phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:18695062 uuid:1eb10709-8826-43ba-9229-80179165ac0d phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18695062 uuid:21c351f3-5006-48a8-a3c0-0c9e210b35e6 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:18329934 uuid:f1b33120-215b-4b4e-93cd-c295c668c7e7 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:18329934 uuid:20ea34ea-8fbd-4ccc-9390-b98109023b25 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:18329934 uuid:67f130a5-0e07-4258-9c29-546550c13260 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18329934 uuid:31f57c8e-1770-4844-a50d-7a9ebb4428c8 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18329934 uuid:9593e3e9-c150-441b-99c0-43d3f4e4a129 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18329934 uuid:310feabf-7d96-4159-95cb-69bc6ca411b1 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18329934 uuid:87ef04ec-0a4f-4500-bcef-64ed147a3fbd phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:18329934 uuid:3364352f-1508-434a-9e83-c8429953df7d phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:07f48761-9f4f-4176-979f-d7dc9127dd4d phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:567d68dd-240f-4138-887c-c2cf588ccce0 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:9b95c7b7-ced6-4280-877d-c67246ca8f84 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:eaf38237-0d2b-44b0-92e4-1f8b4c7c1ec6 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:0af3180b-07f3-4dad-a2ce-024035ff1f07 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:0e5b160b-8758-4b55-a0d1-bf4fa0b07d98 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:18329934 uuid:32e04b0a-5f55-47e5-9ab8-18a9229d9bdb phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18329934 uuid:746e8221-bc79-405e-939e-0ce628ac719b phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18329934 uuid:eae04392-21ce-45a6-bf7c-2a7a44155d47 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18329934 uuid:7aeb89be-026f-46f9-b9d6-c3cd8962b410 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_phenotype HP:0012573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18329934 uuid:8fec85cc-4391-40e9-ade4-8efb3db8ce6e phenopacket.store:MPV17.PMID_18329934_patient biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:18329934 uuid:e019e5fd-40e9-4645-9463-409542021a15 phenopacket.store:MPV17.PMID_18329934_patient biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18329934 uuid:b30afce2-eb5f-4901-b54c-d5c11d307610 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:bfd9bd4c-9758-4082-96d1-f038522f9cc9 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:84be3246-903b-4930-a408-7a1ca2059ec0 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ca9f3f84-fdba-4bef-a79e-ba6dc51a76d6 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:15fb5fc7-7259-4ab3-a88a-b34697be6f14 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:df9565b3-1fc5-4aee-ab6c-730d2371584d phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:6d2cb550-e7a5-46d7-abe8-dc187ebb4c75 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:af95973d-89dd-4d3f-80c6-14332590aa0a phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:25569472-2866-42bb-8823-7599d362a1d7 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:510a1c9f-b28c-43dc-ba94-62dc1be066ee phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:1f6b38b2-9dd2-4528-bbb2-2e40789da4fb phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f013e182-180d-468d-838f-47f6550057dc phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c1c689e2-1996-4ce2-a7dd-9c150777cbcc phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:bd4032ed-8cc6-4dcb-9d0e-7656caca70a9 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:6561a74a-69b5-4164-aec0-5a51d00f529f phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:86aaf5e3-0630-46be-97ee-c475f44bae39 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:81712ab2-d55e-42cd-9ee2-57a68c3dd069 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8d2020ba-8fe6-4cb2-95c0-a958b424a410 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8414c63c-a1af-41be-a04e-ded8e0a7398d phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:73791460-ad38-41a4-8c36-792c0e13585e phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:95fe5466-43d3-4e9c-a2c9-c13761a333f9 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:e26bf6eb-6038-4037-8e09-22e9c4cc2deb phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:bf6c0ecf-7923-46e9-ba37-d7702fb4c3a9 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:ae2aeb8e-9a55-4377-96dc-9bea9836489c phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:16909392 uuid:09fc4d0b-55ea-455d-ade9-91956bfbf911 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:16909392 uuid:4658aa9c-cea3-40b9-925e-b6a9425db769 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:96bf98f0-7aed-49bd-b35c-0f15f489e23c phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:806a3549-c776-4413-b303-72f8820c73fb phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:18222774-dabc-4606-963a-f457e7ee312a phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:6299aec2-3179-4162-b881-0e0feb47a804 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:b146f32c-d70e-48e5-b54d-88ac176e6a30 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:16909392 uuid:eb63adee-938c-4574-b1fa-7e5b63d28d30 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:e81c644f-a6b0-4e98-b146-5808ad7cbe08 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:0e7e048e-a807-45a3-b08b-55bc4071bc5e phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0000559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:65a22e8a-17dd-4c08-9b95-033122fc315d phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:670cde95-fb9d-4e13-9d48-448bad09dfc5 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:4dca2bdd-b385-467b-82ee-c6a761c42f9b phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:7dda9a52-8069-4c2f-9e3e-97298c309983 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:b676067f-be2b-4e38-a128-108c69e55d59 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:16e93095-0fdb-4141-a378-4d1fd0276dd1 phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:3ece3bec-fc62-488b-a1b3-8d56481315ce phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:fc6349f2-9f5d-45fb-9118-868c67676caf phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:fe44c7bc-e4cc-4a43-b04b-50885f53d75b phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:26437932 uuid:52c8c25f-8c6b-478b-bcaf-091e74d77836 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:b140eac7-3376-46b4-a4c0-a6cc9bb623c8 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:d41cbfda-c99e-433d-bb59-532c06a2d71c phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0006858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:ef66b0ea-9ca0-4057-bd64-937506e281c7 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:f1de4c1a-8d05-4499-9e3c-b470f67db6bb phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:964248fa-d0bc-4e4e-9650-230ce1db53b4 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:8fb07e98-c86a-4f22-9984-479c5ef197e6 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:b18c1eff-5646-4ae3-95d8-c0cdaf30a372 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:37825d36-df28-4042-bb36-1d206453b6be phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0003542 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:01205d40-9e50-4304-b17c-0e063605e955 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:409493a1-eadf-4fa3-a4cd-a03359bcb18d phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:f393c613-ad74-473c-a56e-1c7278391711 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:34917a01-83cb-4772-841f-ade13a32e08a phenopacket.store:MPV17.PMID_26437932_nan biolink:has_phenotype HP:0006254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:d36dd2fd-9de2-4b8e-b5e9-ead14bc3e232 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:26437932 uuid:ea042311-cf59-4a3e-ad5b-46c474313026 phenopacket.store:MPV17.PMID_26437932_nan biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26437932 uuid:8b2ea959-4e17-41ba-8680-0e8669e6bb93 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:18243568-15a8-4a9e-bf03-88b419fe07bf phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:db2bb0d5-0a0e-4b51-a166-9f52e47b0e87 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:0514be5e-60c9-41cf-b93b-43ec15b8a1f4 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3b47715c-98a0-4586-89ab-816b7843bef8 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:391a3e1f-6129-46e5-98d7-1bfa732de9a2 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:54bb873f-20de-41fb-b308-98c268c086e5 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7cbc8576-5542-4b81-8a2d-ebdbb4e4501c phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4423031d-ec0c-4ab2-9a63-dc8b15994c6d phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:86b18103-f1ae-49f6-88e7-694498fdf339 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7d850939-7e68-48ab-894d-ce269bda600a phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:fb978649-11ee-4896-8e2e-16ccfd1371a9 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:963e629d-473e-44c9-835e-3578b4683438 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7266b8fc-ca1d-40c1-a578-05022ba2870c phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c2e2ba93-2e29-40fe-a4bc-1d4ec44e771e phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8164e702-2d0e-45d6-91d4-3a86561a6b48 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:6323a70a-4363-44aa-9b21-449801789dfc phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:fd03cc67-e8f5-44ce-a6de-4720915f7faa phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:6b1584d9-ec78-4aea-a79e-653c39916aa0 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b13cbb52-951f-4b56-9bdb-46995e64f286 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ec892687-4a45-4149-afac-d3d6127b6d77 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:35eb289e-3ade-4481-90f3-98ed71816ba4 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:23714749 uuid:3d357b83-32bd-40b7-881b-bd42a9aeee76 phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:6a108ee4-933e-4d68-afc3-d01a3d807d2d phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:fb1d4567-1082-46ca-bc00-b816b97425d0 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:3810e3b7-2739-4853-b808-4dab6835f2f8 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:b4154b8c-888e-4801-af36-467ad4cf2e6e phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:f75820e8-712a-481a-97a0-44b9069fb599 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:c8240741-cea5-4583-8c8d-5359a53be58c phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4d451353-c3ae-45d4-95e2-1a03bc3e6b1e phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a6c77650-ae99-4255-b6fe-91f232a549ce phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:21e735c3-0faa-4c1a-9a85-8c68bfd3fbab phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5e775fbf-0872-4f2c-9788-85e4e50d32e6 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c55b1401-abf3-4385-b2f4-2f45787fd5d9 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:58ad90ff-ae77-4992-a6c0-32f5a08f180b phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e6263934-a560-4899-8ba2-1f619d3e6b29 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ef1b3581-f489-4f2f-92c5-cc99dd731522 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2fa0aea0-1637-443e-b0a8-643b86fb7e5a phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:78565c5b-d480-4ca8-a2c3-dc6ea1912703 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:1c5e116c-3df3-4b25-adff-23474d183a22 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3e8721c2-b8b7-4bf5-be77-c93a8441bc55 phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P4M14D infores:phenopacket-store PMID:23714749 uuid:cb0b07be-2dd8-4d0d-908b-252e392bb53d phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:3a8932a2-376e-43e9-9edc-3a38b0f3c168 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:46bd2aea-c7f6-45f8-94a5-4e03b0a273d7 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:0225c90d-40b3-4e07-8be6-87155c94799f phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:2eba4304-d484-421e-99bb-32d2db5904a8 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:cf941cc3-8ea3-4f0f-8fe8-3c65db84e426 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:f2770649-723b-485a-a684-7580565e1fb5 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:cbd1f025-414f-4e45-a1f9-37d0fa95e616 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:370fde9f-089f-4acc-ace4-da0bd2332a57 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:fdd6adea-1f0b-4a38-b12c-67c30fea1024 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:fa128f2d-e6d1-4326-bdc1-ea832bd71860 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:0ea798b8-ca95-4fa5-b5cb-ac4281e18bcf phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:6a0a7c7b-b8fc-486e-ad88-f6f3f2f1dc35 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:9d2c9d77-3263-4c0a-b693-19e3d25703d2 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:512b2f5c-170b-461a-8c74-50ee04c2adbe phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:380cf757-436c-4a84-be49-708eb142a355 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:f94358a2-13ee-4bb9-b8ca-83de8f6f792e phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:75cddb54-a262-4b2f-9c76-f0c57fd94f65 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:3f64c613-5cb4-42e0-bab0-232e9081427b phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:94d87d0e-661c-46e2-a3b7-86570991b0f9 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:9e9ea565-8a26-4dc8-ac75-bb1908d8151e phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:755aa06a-6e3d-48f0-a8b7-ea5bbce55a9d phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:24aaa2cd-b2cc-4ff8-9eda-586c1a699181 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:1e210f76-73bc-4ca6-a150-10f89f23c7e2 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:20074988 uuid:b5e1a62e-8bca-47c6-8ddf-793ad7324703 phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:80742fa7-159f-4cef-8ac1-f77759980562 phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:34023347 uuid:2d514659-3db4-408b-ad4e-8d9a2708d816 phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34023347 uuid:b1d8f733-94e9-4ecf-b869-6a3502c858b7 phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34023347 uuid:ced82422-357f-47a3-9d55-db34d327ccb6 phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34023347 uuid:7f8683c6-bca0-41b9-995d-e9bf258eefb0 phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:34023347 uuid:42955486-ff09-4ee2-8ac3-8244b39cba4f phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34023347 uuid:414b5713-2fcd-4301-b219-a934d66039ad phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:e5ddd4bc-839a-480a-b8fa-da3688fd1cdc phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:6f48ceea-7474-4e5e-868d-26b2cd969bbb phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:87933c3f-f7d7-4c38-a099-d8886ab44feb phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:1e367351-857b-4062-b5bc-fad1a376b9de phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:743ceb3e-3da4-42eb-83d9-2c7d7526cdc3 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:3997c93e-6129-47f0-9f88-5feb7c737342 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:6346114f-6398-4414-a727-c6c152d21ee6 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:36e08745-d473-4a15-a919-73f93f9c3e5b phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:01758f46-178a-4648-abf4-92f69785ef97 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:a02134d2-5260-4bd3-b35f-8ae2cdafff50 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:cfa15bdf-5d66-4944-9e15-88defde501e4 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:8b2b43b4-ffae-4f6d-9d87-c19e4d97f27e phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M14D infores:phenopacket-store PMID:29318572 uuid:b05c9f50-9c1a-4a59-9b6e-2fd610001234 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P6M14D infores:phenopacket-store PMID:29318572 uuid:74685ca1-8c58-46ad-bb8a-27ad168b2d82 phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29318572 uuid:352250d8-52ff-499d-8312-1c288050d460 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:68348b47-043a-47c5-9fd1-e1b7c0731c3c phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0031141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:ff846f31-a448-4e9d-9b57-5c48203029b6 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:a6f21506-1c11-407d-9fdf-08e7e1e0d3f4 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:46bca250-8901-45b9-9c2d-aaa40e68db52 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:64bc7924-2385-4a5b-a14b-ffadbaa44a8a phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:a577bf8f-0b60-4808-91ee-d61343c8d9c7 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:72c30e38-94d5-4b6d-9bb5-aa42ed506da6 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:d094906c-cfa4-4c7a-95a4-24470952306b phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:90d10adc-25a4-4b54-9c68-492eee6227a4 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:34035203 uuid:d46cbbee-b261-4c24-9102-7bca068e9661 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34035203 uuid:4922e4a7-7c41-413b-9c3a-e61247119eb9 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34035203 uuid:f2defb14-5ee9-4991-80e2-2f98b54f1299 phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34035203 uuid:842f965e-ce3e-4669-b4cd-c6cb8b535e6e phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34035203 uuid:667da70d-0293-40b5-8cb9-9ddd4e80d62b phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:34035203 uuid:a5bc3f1b-3872-4016-9063-c774b89e511b phenopacket.store:MPV17.PMID_34035203_case_report biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34035203 uuid:b0c67492-5164-4a67-ac57-3b02350c53a7 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0010547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:28673863 uuid:2117bf61-7764-4999-9dea-011836b21a0f phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:28673863 uuid:31d5f179-a1e0-4955-8ab0-240d50c0084f phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:1afdab14-46ef-45f0-9943-9d35756644bb phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:9123598f-6f2a-441c-8f7b-8ef1ce211ca0 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:5b3d7487-2b63-4ec8-838e-86d831b4e48d phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:f6a7cc07-59fe-4691-b8dd-17344bd22d6e phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0006858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:d39a6d7b-cc25-4c5a-9945-444d1997fcfd phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:2261d43d-3639-4c6d-afcd-c15b51304d7a phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0033051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:023c55e5-f451-4142-bee9-719ffacfdf6f phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:92d7d6b9-f5d7-4cf8-b4a9-a23b7be40aec phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0003542 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:44e6e735-ca65-4905-b329-2b25025ec60d phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:a0a19b7d-9bdc-4ed5-9f02-4fe31fd1c597 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:83b7182e-d270-4b76-a2b7-27b2781cb62c phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:0ed3ba65-31a8-4ce2-98f6-2fc41eb05c5b phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0100559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:3d9967e6-09d6-416a-b9f2-e8c6527ff4c3 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0100560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:99a6b204-9f5f-4ade-a5d0-747f8bb0df19 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:c44a31b5-b9c8-4a50-943e-2270dcc199ce phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:49c75f2b-7070-406c-b094-c861b4794379 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:6c11a334-360f-4a81-a40b-301991f308f1 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28673863 uuid:055e7ec8-3d57-4759-9cab-045081a473a7 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:33dbcd53-0104-49d1-bb8d-3339cd9d25c4 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:a80fd882-eb50-4993-bd36-f6486c98765f phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:562d515c-0b4f-4336-bb4b-56c8068a1a0c phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:598ff598-b0ac-4f2d-9f01-0c0bde85da1a phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:943863c3-4ab7-4699-b577-cd9e68da21c5 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:fe9264f7-7f08-43fc-81e1-ef14feb2fedd phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28673863 uuid:55396743-e7ab-4a27-9d09-1a1d15fde899 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:28673863 uuid:867ffd1a-d871-4e81-ae6c-04a81d4ed6d9 phenopacket.store:MPV17.PMID_28673863_Case_report biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28673863 uuid:1ef9d595-5f65-4db2-8904-44e20e7ed5d3 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:29fd169b-f2ac-4298-9994-20d2b40cb163 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:faaff325-b3bc-438c-a5f2-3873b215149f phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:b60c6401-5abc-4c57-ba25-7ca1ef2c69cf phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:e3700480-835b-4d00-ae40-a8e7cd9acc95 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:6517dcf7-e469-4e76-bd38-ecd7c31a1345 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:d349ad48-ddba-43c4-87be-ce8fcb821ace phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:565f7c8a-1239-43c9-8e17-51b56572be7e phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:00c026ad-06e7-4be2-958f-73cfdc7a869f phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:40f52cd3-3ccb-4ca0-8bb2-4894b741223d phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:fadcefee-48e7-418a-9fca-f97c6fe18fec phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8faad34a-fbaf-4a03-95b0-eef2a3c35a06 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8c674ed4-8017-42ce-a93d-d40b8f1b494d phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9f1f46ae-ebde-4aa2-bd4d-d941d131953c phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:efbfff62-8787-4ce7-bcb2-97e776ae193a phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:52c1c6ef-847c-4784-8172-2d828c909f6c phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b9ba8092-4f14-435a-a7de-73356530d0d5 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:52ee3d7a-ebd8-44a0-becc-bd18adb2d11f phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:884f787b-2fd8-4da3-9974-65ed65c0be71 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:15bb4493-6652-4c85-a71c-34238944cd0b phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b8dc0c99-7693-4482-ae7e-d4a9586c535d phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7110e285-ba5a-43f7-97d5-4e42d8ad7e63 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:43f3f4a2-f8df-4e38-8fb0-47acbae91f4a phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:dfd6bef0-4838-49c7-9143-66c53c902e77 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:626f1a27-8432-44e0-9aaf-f58d96201d34 phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:c38c4a3e-83d3-4ef6-bbac-0359a5ea26f9 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:508bea9e-d9b3-41fd-af31-d43e58dd53e8 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:f59b1381-0db0-46e8-b06e-2b0465215df8 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:bf1799e7-e1a0-464c-9992-1f182e5ea5d0 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:f5ba4f17-70f2-4edc-83b0-9f84445ad382 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4a10ac5f-7556-4212-b50e-47f8900cc428 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:28575de1-3c4b-4009-9bd8-f4cf532c5419 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:97c70473-e81d-4913-9089-2915cd63ac5c phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7b2a8129-4231-4167-85d3-e2e1d0535068 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4d89dec3-4b4a-4492-8ca1-4a44749f0688 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e3d27d67-4edb-4e59-8ede-be74ec6986ff phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5cf1ede2-83ff-49e2-8ba9-9d6eefc3ddc8 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:414a922b-537f-4062-82ec-54ce9487085b phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:68b220f9-4df6-416b-901e-d5ab947a43ca phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e2a90ae7-d5b8-47bb-87e2-bcd8a85537a3 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2272702c-56dd-4de2-b54a-c7be6b84157a phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:bb2d8a57-1e29-48d1-a843-ccdbabc6c9d8 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d33532e5-8383-464d-b8d3-36b4cb131833 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c4f67c04-bf80-44d5-b070-3b640771e8cc phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d1ae60f1-2379-44c9-8e3c-2e1ac938946c phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9f8d7a60-09e5-4bea-b7b7-5f121daa59e7 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0adffc4c-2b1e-4d9c-861e-44106248b87b phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ee5f4ed6-4fd7-4868-94f9-ce12324beb57 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8f44b32e-7682-4b0a-b45f-254576a9f685 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:23714749 uuid:eaa75d4c-06ed-4ddb-ae40-bed4c53e0d7e phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:4d533216-3824-449b-b72d-e6dc51803f60 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:16909392 uuid:972a9c65-63f8-4b69-b650-a37c1adbe75b phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:16909392 uuid:bc2707eb-50c3-46c7-84b4-5329519c86f3 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:5578e679-c0f1-4008-903c-376e6f909051 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:16909392 uuid:303f9126-529b-4c9e-b311-fc671828bd8d phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:66c4aef8-7c68-4aa4-9431-0fdc5838bed7 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:b5c319df-aaaa-42fa-ad1d-6dade7c4aee3 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:d821c61a-ebf9-4b14-baa3-83e6d4f5bf46 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:7fe1788b-819c-40e2-91e8-7695b76b4e9d phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:a6332224-891a-45da-80a6-f88e284b8b3d phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:4051e469-1772-4d50-954e-deb862089d42 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:516a9493-3be0-4e99-b800-1cbdfe394342 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:6a152ca8-a905-4d50-9f1d-d48f09c29a89 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:cc31a9f2-cfb7-482b-b3bb-4aff74e09cdf phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:47b0502a-7861-42e5-9903-c9dbf02c362c phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:642c359e-add3-40e9-8d7a-8fb187756e4e phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:63965250-20d4-492f-ab39-f8bd4aa9e6c7 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0000559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:635c05ef-65c9-4134-8d62-0fc3017da07d phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:b5059085-9cad-47a9-a48f-620367e3de51 phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:dfcaca66-1fbb-4da0-9076-54dd642ae96c phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:b7faaaeb-11d1-4b69-8295-0ac0434232ad phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:26437932 uuid:6d15fc72-24c1-442c-bf66-1a237470f387 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0008954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:26437932 uuid:a4332fc2-7b8c-4d24-beb4-292b7819df87 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:26437932 uuid:ff6fbda6-f0fd-45e7-b74f-a7bf65accfbb phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26437932 uuid:d26f4e61-f49e-44fb-9acd-d4686e1415f3 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:2b044e16-0820-401a-bd5d-83b0f3d287c6 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:576acaf8-eca8-45a6-b081-775bef2c5fc3 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0006858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:c8b4080b-d65c-4b83-accf-3a35c8a59a22 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:0db1d6a4-f172-45b4-b5e2-5865c66323ca phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:fd2d2ce6-0699-4a65-acfb-e87eaaae12b4 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26437932 uuid:c2a4c812-33e2-4594-a6e8-f968ff4da14a phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:60689926-05ac-4772-ae72-054667f859d6 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:5d59668b-6116-4b83-bde9-e9fc81391dee phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:da86a6f8-8afe-489e-ba58-880d9c391756 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:72c0ab4a-ba54-4ca1-a508-03186798a541 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0033051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:c3369dca-8a17-4ca9-ac47-64b7d4af678a phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:ed627970-4d29-4205-b062-d69661b44082 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:b4618f76-b111-4b8a-82a6-e5b204fc6139 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0003542 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:c3baa978-8c1c-4cd3-8ff7-6159789abaf1 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:7a56a780-6ee7-4991-b8c1-e7afe4206414 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:bb72e48e-ec11-4604-b3a5-77dd9f333083 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:621537b3-4169-4f7f-b0b5-5491c3d073b4 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0006254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:fd903f90-c77f-45fa-af2d-57241bb3587c phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:ca3d00bf-de12-4147-aff4-0af737265949 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26437932 uuid:5ccd1ebb-81aa-4b34-8fb0-1b8dfbe8df41 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:26437932 uuid:e2c5db30-dd4a-448d-a536-621560ef6076 phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26437932 uuid:940271ec-602f-49f8-9e46-9df222ec87b5 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:8c329218-acd1-4ca1-a18e-297385eef97c phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:dec8cf53-cc85-4dfc-9f62-03ad50490f4b phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:47b74406-6e86-4fa1-b3e3-21d792e801e6 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:44565e37-1f10-4402-8b2c-99740db4e941 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:4f186bad-0bd6-41de-9272-5a940a98aca6 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:829b4eab-12d9-4765-9653-9bf24f0c0797 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:26fa80b0-4760-4d45-a5bf-07eee632fe08 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:7e51f104-ec15-4077-b96c-1695d820fc9c phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:039b91a6-cf3b-46f2-8447-42eba54a5f5d phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0007178 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:9dc60e3b-a187-423e-a48c-c02948b53f12 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:eda7eabb-76ac-4a7a-8555-db8e4c38b51f phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:a08616c8-6bb8-4507-82c6-c96e8b2387d6 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:121cbdf3-453b-4516-9de2-e94f1fd68faa phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:2f1acab1-5d51-47c6-8cbb-015f86f54541 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:78eded97-9ba6-4e62-a5d6-4bf35ecfec11 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:5bcc26fd-ba37-4668-b31c-edddaf3135b1 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:75fe1040-15a7-42df-94ac-da70e5d4b4a2 phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:27536553 uuid:2f9693c8-ee2a-42f2-8c3f-9b54a0620a1d phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27536553 uuid:ece3d364-dd4d-46b5-bf70-8ef3cad9a3e8 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12D infores:phenopacket-store PMID:31664948 uuid:68513eef-227b-4010-a4c1-1b746121556a phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:31664948 uuid:275c6886-5f6e-4fb5-a1d9-74c1aabebe9a phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:31664948 uuid:06881c95-c2d1-41fc-94de-33b9a7c0a5f8 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:f0f41458-2211-42db-b5a6-b2b85d7379a9 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:088d1dff-3862-44e1-8ab2-42c84b951ba4 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:9e6ec34e-690c-40a0-a668-0c866ab247ac phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:716ad9f2-ad6b-4bad-878b-7b5fc6c814cd phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:604ceb29-e4ad-4afb-b8e0-2540fe9f9c0c phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:b5276f36-7867-4261-9af3-ffdb7ddc8b50 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0006254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:06b435cd-c6e8-43b3-9e73-f3d716554f24 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:a13ab24c-35dd-4ffe-9ba2-306b03e84803 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0003231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:0f82a682-e830-49e7-bc2b-56e6bb910d80 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:846bbb16-8de4-4e09-b4f0-c34d0f1e5d1c phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:03f31cfd-9921-4352-b71d-6bffdee48e60 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31664948 uuid:380764e0-f065-4594-aa2b-f4d5b061736a phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31664948 uuid:5034c4dc-051e-4d50-998e-4dda9a9c732f phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_phenotype HP:0040319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31664948 uuid:a75d128a-d3a8-4b9a-be0f-f552e9ea0312 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P12D infores:phenopacket-store PMID:31664948 uuid:6b03f157-e6d4-4f0d-afe7-e82c77275905 phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31664948 uuid:e6423906-b5e7-4715-b61e-d918bf2f71c8 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:18a906b8-a7e0-4513-abdc-34fe432e7b72 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:e4ef776b-133e-4dfd-9154-93f84787b2ce phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:d330a116-f2cc-49cf-a61c-6b2bd2de37da phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:55f33c0c-1df0-4862-ae79-840ab867fd55 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:a9ad8397-063e-481f-9526-9b4b99a867df phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:23744f7e-aa17-462b-96db-f3bab33dda3e phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4db6acf0-f3c0-4ea0-b96b-0553214c8376 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ccba8530-0fc7-418b-ac59-0b1de6609791 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a233ab47-b2b7-4d21-b384-d0d710c12901 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:19d4cdc0-a9c5-4b7b-9c46-650c4d16ae2f phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0e9da00b-7044-4add-9f9a-7060f1e1d3fb phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b1fe2386-6395-4b6a-8fce-d050ed37c6e7 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8eca47ae-3273-4db6-af51-cf727e775e26 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:50ea622e-dad8-476b-8033-8719d22f6dc7 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ddf53885-b622-423c-8422-6796b9e3afe0 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0d8b8ac2-a685-48ba-9654-394e51dc3a2c phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e9adfbbf-d427-4c3b-a712-aef18174683b phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:82e85aae-a1a1-43c3-8301-701d336d8136 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7ee529ea-6c15-4f69-b697-a0cf8d60c637 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:82063af4-e6cc-41fb-900d-f9b816d49f79 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P3M14D infores:phenopacket-store PMID:23714749 uuid:7629dd5a-8f0c-4645-859c-3570bb232250 phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:a3e61da8-da47-4193-af99-51fd57179b10 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:794a4e40-3d4d-4517-adf8-c63d3776da28 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:727337c2-b0bd-46f3-9bb2-0dad7f69c9e8 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:edaff2b7-c29a-4848-b700-cb295345d493 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:f1732a90-19f4-4483-84db-4bb4efdf5809 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:cb322006-dce7-431c-af51-56d787b1e22b phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:368292a2-033c-423c-a53b-458e0d1cbbad phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:bf611719-9c18-4406-ab7b-147a51acb1ba phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:395b6e38-5273-4f07-aacd-3be8660a6bfd phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f093b41e-a4ce-4309-9431-ce252f115e77 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ebc228fe-6d1b-4147-8982-1854ff24cb23 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7dd3a66f-33a4-4fff-a9d0-749f281b6068 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5c7c590b-81b0-4256-9875-1eab41310d0d phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3a16439a-5943-47d2-bba3-3ec02d258dc6 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:1755382e-be4d-40a2-aae4-0d3ff19018e3 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:db252d26-75ac-4dcb-a87d-eb87a81e638f phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8c9b8e03-aa37-4ac7-a09f-cd965d75c4aa phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:56fb9a0a-bc59-4090-b41f-dd06b17874ab phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b59217f9-2000-4f56-84e3-f59b37b4dfd9 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f194fb6b-1365-4909-92c4-4cc73ac19512 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5bb77bb2-868e-449d-adc3-f63a96d72977 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:871560a7-e748-4040-8759-178c1b9e8a65 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P3M14D infores:phenopacket-store PMID:23714749 uuid:7478ea46-18f9-41d2-af9e-1dadf8f9aaad phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:e8812eb4-d4b9-4549-b7a7-ff05748391ef phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:e0cc04c2-2b87-4262-b123-8d4ad7defcde phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:7076be3e-3bb2-4414-8206-01577e920fec phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:e5a5e119-eaf1-41e0-864f-0ba4beff5f5a phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:2881d3d6-e579-4611-8e67-7ac3efe56700 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:4253df25-4e7c-4d7b-a1a9-1b4dca6f1a96 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:70bce330-7bb0-4aa8-ba7c-fa3345c5e47c phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:d69794b7-421b-4853-a608-32ac623fac45 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:0e717165-2449-4367-99df-6b3808db51e0 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:01a38982-e7de-4b9c-b091-d8b88047cdc7 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:e90fe264-4ce4-4d2c-82d7-fb7a933cba8e phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:5437a0d1-1bfc-42a3-96cc-62acda78636d phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:d4ce8736-73c3-49ef-b3a5-b60819548e2f phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:188bad80-7818-4adc-8e64-4fcc9e4bfe89 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:7fbccad7-9c8b-4229-a257-8b46cbb4987e phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:fd10cd6f-d473-4d87-99a0-aef69c42f3a7 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:900b1922-a21a-4059-b217-bf595e54614e phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:24894789 uuid:5dc14504-de44-4d97-bfd1-9e61e443e5a4 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:24894789 uuid:6798e4e5-9016-43e2-b95b-ef4333d603b9 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_phenotype HP:0001403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24894789 uuid:65127b43-f32c-454f-80a4-1b9cbc9c05a5 phenopacket.store:MPV17.PMID_24894789_proband biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:24894789 uuid:962a1a8b-4c9f-4787-8dfd-6ae8dda830ee phenopacket.store:MPV17.PMID_24894789_proband biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24894789 uuid:43876f06-41d5-4c8f-88dc-e5354c4ced68 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:25129007 uuid:5fd9e542-3cd0-4433-b0e9-f21197ca09e2 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:25129007 uuid:21dbc992-756d-4104-8272-a359730d41d5 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:25129007 uuid:67596571-bfc8-4377-919f-351e3d113da0 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:25129007 uuid:5e63ca63-3df4-4fcc-8016-27e291bdc334 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0001406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:25129007 uuid:9fafc435-ed45-49bc-a130-d8fa19b2fd23 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:25129007 uuid:9c0f97a7-e915-4b68-9396-47b996a3be53 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:25129007 uuid:810f5801-ebaf-4ea7-9f19-266ee31c6b45 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0031141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25129007 uuid:33e7f1b8-4fcd-45d8-a48f-30ea9c1e2691 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25129007 uuid:8dd13e96-fc46-4daf-b462-8c46fe1dd796 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25129007 uuid:96fab343-34da-4ad9-91b1-cfe675fedd62 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25129007 uuid:3f3d46e6-1ad4-428c-a373-38b6e2c3059e phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25129007 uuid:bd224049-8e86-468e-96a7-170bfe85b918 phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:25129007 uuid:3df22858-dd3e-4e7d-a950-c752b04c319b phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25129007 uuid:7f78b9e0-446d-4642-ba4e-e0c735593489 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:ae96b47f-f026-4152-a04f-0d8e6889f8f6 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:7f35f588-e234-4ae9-8083-58e0d327b008 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:bc5415c7-daf1-4b8e-af8b-e608004d9433 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:c6df00f8-98fd-4818-8bb3-d4e4a9f3b803 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:d5b9f5a1-47e2-4348-8b2c-5bc8ae1c8057 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0009073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:e04f4e08-b1c8-46a7-a3fb-f310a3bab4db phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:af06b677-9bb3-42e8-a9a1-5dfbc5176fe1 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:12f7957d-713e-45b2-9a94-2d4771f8e19b phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:9d25b218-4759-492f-a6f9-37b7ab19f56b phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:06057a86-2a52-4053-81ff-49f23adea478 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:733107d5-8351-4550-bb61-530f8949b7d9 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:45de5df1-4dee-4227-8240-7ecba979114f phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0003546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:b4e0bfe5-74c4-47a1-a6d0-68e2bcd75069 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:8689697a-ebcf-4880-a71d-9da5e5f54d05 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_phenotype HP:0003689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22964873 uuid:cbd6797c-76a7-4532-886c-395658d10a29 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:22964873 uuid:11bb2726-7eaa-4944-a56e-36297c83beb0 phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22964873 uuid:7557b8a3-93c1-4306-a80b-b5b0e358f270 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23829229 uuid:c3c55501-3da8-4157-b780-28c42c383747 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23829229 uuid:f7bfcc62-ac51-41f3-92e2-e6216b52a290 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23829229 uuid:efba8f7b-6e74-4075-851b-207f27600d24 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23829229 uuid:e96043ef-f137-47ff-be24-b8a51ef85322 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23829229 uuid:d89d470a-a92e-46d5-8d83-ac0eaf8ab62d phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:23829229 uuid:6e7d6e9e-6e70-42c4-b7e0-5334c02d25a6 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:c0a5a348-be69-441e-b807-ac12ab1781cb phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:cf88e50a-43e6-4ccd-8a50-42cb365b60b3 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:7daf7cbc-5321-42fd-a7c0-0d6fa7a1c5ab phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:4af8bdee-bae4-4f22-8166-3ab2fd4420b3 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:7ba19839-7325-41b2-89b7-c29fcc51b79f phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0012202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:1c324a3c-864d-4256-8ea5-15a607bc74c8 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:23829229 uuid:f8c5406b-ce16-4e59-95dd-1667566b271c phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:c35061f1-f2e2-4627-bb39-5a94b5c06629 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23829229 uuid:d07ab46d-471f-402c-aabd-29adb464300e phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23829229 uuid:e740b7f4-1f51-4ce6-a127-4a6b91f910f2 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:23829229 uuid:40abe71a-f14b-46f1-934a-0797375ac3b8 phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23829229 uuid:f9127263-3e24-4294-ab9f-40052cbf6261 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:72877bfe-9dd9-4600-ae6e-682497d0d914 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:4070b165-ab42-4b32-983d-18444fe064ec phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:23d368b3-e77d-4841-b35f-b01c67b2f454 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3e89cdd6-84db-477c-8b7c-6bc456f76a48 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ce3c1343-a231-4c53-bdfe-fa67e7b8575d phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8d13ca69-f3df-4fb5-8461-34510078abff phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b9e55bdf-425a-4e41-a953-8cf55bab96bb phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ee481d9a-2415-47c8-8c3e-01a0a38b3ade phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b5342747-7dcd-45c4-aa8c-7c56f6606bc6 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:74d45c9f-4f55-493e-aaaf-03372caf6ca7 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c68e2d7f-d13b-4fbe-91b0-3113fa07091d phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:160d2873-ad70-49ef-8dae-c283a5f32e5a phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5c05105d-813c-43db-b987-3874f8153dfa phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b361410e-9b2e-46e3-852e-a175f0deff2b phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:79893986-86ad-495f-981f-10efb1dafbc5 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:da8c383d-0a03-45a6-9a3e-057ed3e8c8e9 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4cae3c51-e03e-4fac-9dd6-fa10ff3f5f8b phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:e5128f89-4b92-4925-86fb-28a07a1e1945 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:83ebb621-dced-43a7-8b9a-e16a328ea5c8 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:90ed8a4c-77da-4524-98fe-c31a238c0e09 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:b584489e-8893-473b-bdc2-cf823e45d046 phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:4e4afa3f-bb97-4548-87fd-bc0a75969be8 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:23829229 uuid:28829af3-ccea-432e-935d-f7f7c4eafeed phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:23829229 uuid:30aca525-9bd6-45ab-88e3-6e6c299dad4f phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M3D infores:phenopacket-store PMID:23829229 uuid:563f490b-5746-46a6-b40f-06e4b0421a56 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M3D infores:phenopacket-store PMID:23829229 uuid:a2b7e501-b0e0-4a42-b872-6984ed11f3b1 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M3D infores:phenopacket-store PMID:23829229 uuid:d2030a67-6a04-47e3-98fc-36fa9c77b150 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M3D infores:phenopacket-store PMID:23829229 uuid:ea0ab427-5763-499b-80b4-b6acb4074f50 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:23829229 uuid:4b361025-63e4-4e50-bb55-ad89ac842062 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23829229 uuid:d9d23ab4-21b8-4551-8cae-553ceef4541e phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23829229 uuid:fd89ac4d-b3fc-468a-ac59-8da2394ea992 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23829229 uuid:8cb68516-1199-4752-a1ea-326aa6bcb138 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:23829229 uuid:ff2add75-7ffd-4327-b0f6-55d41946c883 phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23829229 uuid:f73d6788-2a20-4c9e-b603-d53e37c54bd3 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:16909392 uuid:f681e5f3-8a80-4dde-bef5-3c0d744b11e0 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:16909392 uuid:122ef946-767e-416c-a56e-3c7c9bcc538a phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:16909392 uuid:da8385dc-ee0e-4d85-8c15-7f0a832a144c phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:16909392 uuid:eaa083b3-70f9-4913-9cc1-5bf4f2d05fd6 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:16909392 uuid:ac14575b-f404-47fa-a066-e6f3e30da365 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:0792ad4d-aafe-4b1c-b3e5-207e439be28e phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:2b1a70db-ee75-47f5-8119-7e563e666b03 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:374cb04d-1982-44d2-bf13-feb2bb919670 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:a6d21391-c307-40d3-b666-1f24f4652ec8 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:6de98548-e3cc-4116-b60e-f1324bfe22fb phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16909392 uuid:37337152-f82e-4027-8052-ca8ec6625e44 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:fc022df0-3861-48de-bb3d-23f2e5520524 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:100cc9d5-ddb7-4341-a30a-66a5bb101f87 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:0d6ff418-12ca-4d65-a89b-1da96f0ccbcf phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:9c3ef25b-9de2-45fc-b8a3-0413b2120e4a phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:404c3526-4b26-4955-af61-b0cbed00fb58 phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16909392 uuid:59022905-56e2-4873-9f44-7ca9cf856c6d phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:95cab0bc-cbcc-492d-88ee-34fd2e58735e phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16909392 uuid:c6bca52c-f395-4629-8b3f-8e213cb07fff phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:22824774 uuid:4fbd0394-d8d9-447a-9c8f-6a1d8064ea82 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:22824774 uuid:49163048-7ba1-4871-a201-7283de0696d7 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:22824774 uuid:0e8730f0-5e76-48cd-b814-1d9ef5f51f70 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:22824774 uuid:d328d739-1032-4d52-9404-f56f75057a2f phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:eac7d7a8-26a7-4130-be2f-551038cca28e phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:49c2f811-1242-4247-8cfd-46090d91e872 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:1f28bda0-697e-433d-bc04-c02620df50c3 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:f43e4281-b4c7-4d35-8762-ca5ed05ee31d phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:f4bf7017-fd40-42e1-85f6-70de58ea8cbb phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:ab658963-3b8c-4fa5-96cd-321519ad28fc phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:96c6e6e9-c171-4dac-a232-cf842cc90525 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:3e787a96-5bc4-46dc-a8ac-14ce942d9256 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:ace3f6ee-2b89-46ce-b8c0-361f7895f244 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0003231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:0cb33a49-cd4d-4922-9533-2f79fb8a3b3a phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:43b0eb7b-121a-490f-9b13-abaebf6917e3 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0007588 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:dff996da-d737-4d8a-9e4a-40cb2ddb7765 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:6bff6c43-f4d1-4ede-837f-f21583c03f76 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:2008aae5-6173-4067-a61f-e8bf31ef823d phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:2998260f-54c6-4a9a-80dd-ee4c3dca7484 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:eab22e73-0955-4560-a803-5b19b5cb8ea6 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0003645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:c73fb78d-eb26-4c87-8f14-c48064e8986d phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0040189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:5394add8-78c6-408b-99ba-5ee9fef66944 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:f59a470f-a34c-4e42-9d90-27f795cdfa87 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:b9aa89ed-e0b8-4d1f-8765-6377ec6b7920 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0002299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22824774 uuid:b82f4a4e-2ebf-457f-bc1a-252b20ba50ec phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22824774 uuid:1080f7a4-7218-4b1f-b80c-d5ad268f976e phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22824774 uuid:64bec291-388d-493b-9427-78a9e8070b30 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22824774 uuid:04baeef1-6a89-47a0-9153-abf9532336f3 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22824774 uuid:3ca15361-d3c4-45c8-bfad-8c500b0080b0 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22824774 uuid:35537719-30cd-4a3c-884b-cdf47fea3e58 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:22824774 uuid:da8ced9d-2a4b-4d43-83c8-33caed424252 phenopacket.store:MPV17.PMID_22824774_case_report biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22824774 uuid:87465231-18e8-4c3a-8906-6eaae5e5875b phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:22508010 uuid:17d53e26-97ad-47c1-b720-d18fdd9a1ca0 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:22508010 uuid:32fa776c-b9d4-4c40-a6b8-bd231a974084 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:fa850101-e2b1-4a2d-bd8b-90b9bd7ec6a3 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:82646f96-abff-409f-847c-ed1bf8e66ddb phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0006858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:b1a40a82-e0a0-4edd-865a-b6eb85fbb39e phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:af494b4d-8548-4830-9f52-6a962fe71c9e phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0008954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:76a397f7-013d-48c5-bcd6-ab93bfccf5cf phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:7df67335-8a22-4113-88b2-ac5badeaa92b phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:de761fe9-667b-4714-8bcd-a4b3d07852c5 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:2c24fd9a-d625-4046-a6d5-71b866434be3 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:2038cef6-f236-4d0a-bb47-0802629b2572 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0002922 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:eacbaa6f-d157-40d2-98c3-c3d6d55f9120 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:8da4d3d7-e05a-478e-8fe6-c0abefa8b4b8 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:3b9d230f-e331-4e41-aea3-119d708c5973 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:9a57f39e-6a0f-43d2-baf3-9dfba2521e35 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0003689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22508010 uuid:77ad0aec-c15a-4343-ae84-7583721400e4 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:cf0bef4b-a872-4ef6-93b1-5f438d97528a phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:ee5099a3-d0a7-42cb-b364-ef3d8a0e3689 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:ed86c874-fea5-4a28-9ed8-090210018f24 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:39ab15a3-7c56-4aa5-a7ad-078e946eb284 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:765b32f3-df70-475c-b58d-bf01b5d9a261 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:5e536f06-afcf-4d22-9eee-a29c13e442f6 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22508010 uuid:d7faca4f-3542-4506-81a6-b917601b7924 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:22508010 uuid:017524bd-5f11-4f7d-90a9-9644cc491ee2 phenopacket.store:MPV17.PMID_22508010_Case_report biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22508010 uuid:34ae4298-74ad-40bd-b142-67f188749561 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:c521e286-4afb-4150-a5b2-74ba2ca25f41 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:0bf3e824-0b6a-4a56-82f7-f2e6d7590495 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:1ce22806-be0f-437c-bdea-eda0e2bc7fce phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:53ef54e7-cd53-4337-b1c2-9e6b5a1f0144 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:bbf621ce-0886-4407-9c8b-ca05c66ea8bc phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:7d44930b-0b74-4fe2-b631-cc7c3f6b9bbd phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:7741412b-3795-4d79-a183-23c79f741de4 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:cc0da6bc-3f2b-4c2a-843f-8f573158f88b phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f5a60ddf-0974-4dd5-b958-e9abbe1b8643 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:6bd5eb57-4953-47f0-bfec-6e91b9c9cefb phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:f2e6e05f-d206-4a61-aebc-30878599a719 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:28bc1be7-d81c-466e-8b4d-442980c6e4ed phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3c41b276-0625-46c4-a8ed-4b0d98bd5c06 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:3e0f98f3-4ae2-46a9-87c6-afeedd58cccd phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:8f644c9f-ebd4-4b22-911b-540bf62e9983 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:388f068b-ce4e-4e15-903d-6c06d4f52575 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:caf363bf-886f-41a5-a13d-a238c9e97d94 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9b83b80c-105b-4359-b12e-c72c00ff7520 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7890ddd3-77db-4572-9ca4-21d87b360428 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:58112134-380c-4259-b29b-592f2b837690 phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:98e9c280-db65-4e56-9094-5bb0f36a5d6e phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b06fb701-ee73-4ac4-92fd-3211da3bfe0f phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a570cecf-ddf3-4b87-9da8-bcd704fc138e phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:23714749 uuid:19dc32c4-b45d-4692-af41-640cf8a0ad8c phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:ac538a2e-2597-4514-99b4-3eeb682f1956 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:8b0619fb-c895-4edc-9473-d9b37f17ef08 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0006858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:67e79e94-7d26-49b7-b384-f920ceab8a29 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:37bdc60e-17d8-42d9-b248-d87df6b3def5 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0008954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:ad397b0a-a1c2-4f68-b567-04f5fba68cb6 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:e6516799-a799-4cee-8514-d3d1ddb53810 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:16046b95-1799-4fcc-8e6e-7d1e47e14ab2 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:20029941-61d9-4a99-a3b0-0e127ae075e5 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:0ca9ee3f-f220-40a1-b214-182196416244 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:ecdd789a-297d-4734-af05-2a4acc5aaabc phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:196f925b-c224-4540-ba1a-1d8153161dd7 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:24190800 uuid:8107c3ab-5171-45df-a67f-4f1094fb1a6c phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0003376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24190800 uuid:343a4e0b-7b6d-4815-b9f8-81fd6b50c4c0 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0031374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24190800 uuid:b4a83e7b-f5c1-46ce-abd7-5aff375c015e phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24190800 uuid:5e3263eb-6a97-4ca8-b5cb-8b76b94273bc phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24190800 uuid:f043fb10-f18e-47d8-99a7-49a4eb96db7e phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24190800 uuid:f2feec28-d55b-4bf9-8489-4aecf1a38c30 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24190800 uuid:eb940481-be95-48a1-a38b-03189c77d259 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:3c8334a1-b99c-4bb3-8bfa-402d1a4069f4 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:d86c9f57-b67d-4c77-b893-a4aa92922543 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:1c8616e2-e3eb-492d-936a-a8233ba0bfe6 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0033051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:d5677c23-e1a8-4d97-a822-6355450efea4 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:ee51cc2b-4188-4651-bcc5-3dfc7a78df63 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:ff040a85-f351-49c1-a59e-2c5b964d9012 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24190800 uuid:d0b2ca53-36a7-4f8b-8985-ae41c7196226 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:24190800 uuid:527c59f5-de1e-4a5f-944a-dd0eba7fffe3 phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24190800 uuid:c695949b-5acb-4196-9f71-df0f27ec856b phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:66ef4da9-d171-4372-96cc-7605621839f7 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:5b3dc325-0ac5-484b-9a9f-08387026b1e5 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:0cd9e8ea-988f-4541-8a8a-e29793d955c8 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:c32d4746-bd8b-46a9-8809-d74dae98386f phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:c38c2ab5-114d-46c6-8923-41c58b39e342 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:7e3bbd7b-ba4f-4ee9-8f5b-71f72f0a5c3b phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:749c74f6-7780-4f0d-9382-a71b98ca0e9e phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:e5d40fde-fac6-4419-b270-f5383a204bfd phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:f9e89c8b-055d-41df-9811-5c4edd040a36 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:5a3bfe4a-dcb2-424b-b6a2-2002e9b5308a phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0030059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20074988 uuid:5bb0e0e2-05fe-453d-a158-c75ea524049b phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:851ceffb-2c1a-4cf7-8dfb-26e6a0102f6f phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:1402280c-532e-4882-852d-14eca253f552 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:d1bd7bba-481d-427e-9c4e-b72c89acc247 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:88063058-27eb-4033-9775-4a33da5e9aca phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0000114 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:044fbc8d-b436-41c4-a3b1-cf4e5034ba28 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:55fcc7ae-32cd-46b2-bd0c-53bcf65dc4fd phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:4c69ca2b-0bf4-4619-89f9-dd8a11fd1433 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:19249c94-18f6-4957-907e-16be988b4d02 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:337f79f6-94f1-458c-9a44-60ff839076a7 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20074988 uuid:23653b86-326b-427b-a45b-c9a8b76fb9d2 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:20074988 uuid:365ec034-fd49-4026-b0e4-bca8d7df9b16 phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20074988 uuid:ec4716ad-673b-4ef0-9dcf-6a8e9ec3bdc5 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:c90901e8-e383-4fa8-af63-edf1bb904e2c phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:06568fea-95ff-461d-a75e-80ef48065846 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:cdf61366-b248-454b-ba38-6ac61b56ac1f phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:581044a5-2680-4461-8d01-08e5fbd212ad phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:61d77c51-3409-42ce-9703-48a3eb9d998b phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:2450086d-830a-4b8b-95db-b0cf8ee76f03 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0012202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:18695062 uuid:a941d0cb-f224-4509-8b2a-59d1c2ac8cb0 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:18695062 uuid:36edaffb-81da-4b61-9a3d-40c422b20728 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:f9cc66e3-81ff-4b92-95f9-e24aa1a357f0 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:843178d9-85cc-45fa-8008-d06e46126d87 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:059ed3a0-1931-43ec-9ad0-3ec2997338e2 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:a175bb32-0843-4257-b656-556793073674 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18695062 uuid:7885989a-e6c6-4cbc-a827-08af3fa8c6bd phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:8161b2df-181e-406b-8b05-a33380fec962 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:a59a582d-252c-407f-8da9-7d7b5f944bcc phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:79ce59a3-bf44-4322-a420-fa11c419d810 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:58e6563d-68b6-4e0b-9ab4-143f3181d1f4 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18695062 uuid:8950a914-f2ab-4626-af4a-48c70692cabd phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1M20D infores:phenopacket-store PMID:18695062 uuid:463223ef-3e85-420d-bf4c-68eb11acac42 phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18695062 uuid:6da08735-f038-4f26-b91b-9d7d89ad81c0 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:548cd886-b788-4455-8be2-e8ecd4d1dc21 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:8ac9ddbf-b205-4a24-b29f-e545ec86724c phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:8416d33b-3c3e-414c-92d1-b3589d3e03fb phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:510fd178-529b-45e1-9abb-4099e682132c phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:4e847616-0e23-41e7-83f7-46135f1c4135 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:53272fd8-2d41-4b45-aefa-1457efbc52af phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0006581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:4f7a1d6b-fe29-45d7-afc1-a0eba9c980f5 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:095a2841-a8f7-4da2-9169-5d7fb116b025 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:bdfa91ad-0b1f-4b65-ba55-3a041d80c007 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ba9677cc-534c-472e-a120-f647eed44b13 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2039d10e-8aae-444c-943e-c27e7d52d377 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:5961e569-3ace-4677-9dae-cab45e550b3f phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a491b871-801c-4e7b-a97e-0756ebf9a4c6 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:767853cc-81af-4ca0-80a1-7553dcc3a701 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:a1705a91-a3d0-4d8e-902b-6677ac3c99e3 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:4372d877-e8ae-4c2c-b0df-82d7af42eb97 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:b7268b58-30fa-4a46-8777-d7cbfafe5089 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:353679c4-935b-4822-a96a-f02876667d46 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ff3797ca-aeae-448c-9b6e-683b8b7f6c03 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:92e66819-58d8-45e4-9b0e-9299efc907e6 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0009141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:fa150914-68d6-483e-a387-305c171f6727 phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:2f5c610e-0c06-4b70-bdf4-41f00e84578a phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7e9bcf8e-f06b-4fa4-9f4a-9f861f49efae phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:ed8d8e03-f1ce-465d-a25c-a8701731287a phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:b09eee5d-3ae1-4059-bf4b-b6d8871b7bff phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0001271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33486010 uuid:4b087b3b-29d0-4e37-a5e0-6a3b231ffffa phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33486010 uuid:f736022b-4b61-4c36-81e7-f6a29726368f phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33486010 uuid:5b692488-2be4-4d38-a281-df5ed89c65ef phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33486010 uuid:c88e15b4-3839-4a86-bcad-e8d2b180631a phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33486010 uuid:ca260103-22da-4a18-a21e-22a85067b483 phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:33486010 uuid:975dd631-7bee-493e-8b3f-ab97135cb7b0 phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:33486010 uuid:326ae250-83b2-4f1a-95ee-f0b07491b20e phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:33486010 uuid:dd785c59-bbc1-4bad-9d3b-3471eb0408da phenopacket.store:MPV17.PMID_33486010_P98 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33486010 uuid:28a8783d-0800-442d-aca7-2dbded345a00 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:96690a01-e861-46b6-bdba-ea0151a0c764 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:d9c74df0-9453-4f9d-8141-f7389543aa18 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:265d6efd-d257-44c8-a458-59012eb7f7ba phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:47bb5f4c-c5b9-41ed-a1af-09ef7d399cc6 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:703447dc-f90d-4953-bd16-78882021c0da phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:9ab7ce8d-581f-4ca4-865c-5dfe44d2018f phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:babc8a5b-6f17-4483-9bf8-a8658994fc72 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:84abb3ad-8f6c-4d02-a429-fb261d1be6de phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:4e614cc9-7c11-4156-a880-3341b788c6ce phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:1ef3f242-64a8-4a95-b3a0-da802c4d73ca phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27536553 uuid:740074c8-83cc-432e-921c-8d5ddf7408ff phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:658e7051-7166-4e1a-897c-490e106d912b phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:0d659e38-2f82-4478-a529-e504f7cfba9e phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:f28d80e7-4ec7-4abd-a6f5-55cb5bc08b0c phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0007178 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:c067f203-2174-4ffb-bdf6-89f7baa5f11d phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27536553 uuid:9a340843-595d-45d4-9441-cd30035edcf6 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:27536553 uuid:e522b3f4-2ffb-4b04-8091-7aec5f1abe77 phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27536553 uuid:2f41dd05-fbd1-46d9-84ca-06ec244dc4a3 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23714749 uuid:157a6beb-a4dd-4762-9571-8c13e0fba0d9 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0d871943-36ab-4d6d-b2c7-588ee31ef4c8 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:daede3e3-79af-434c-b62f-1d71f248aa70 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ad5cd410-8abb-4ebb-9d44-2b78890e9cc6 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:61722bd1-0bec-40c8-ad3f-9a0f3abaec05 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:1560416f-fec0-4115-93c7-81b62585d3db phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0008163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:0f7ab4ac-685c-4e7d-bb84-c17ff296f116 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:ce388eff-2208-4376-b049-7ec8cfbcf72c phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:52f03429-7128-48d5-a77b-16c127af4faf phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9051b0ff-3406-4ca7-b86a-4458223dddfb phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0003256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:c789b6f1-3429-4be9-ba2e-b69cbb5d2566 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:9a38c7ae-d7d6-4cc2-a631-bfdc57090a15 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:7618c1ce-3814-4eda-b848-721789ad2256 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:549335fe-c7d0-462d-a711-9c410d39de67 phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:d54f0045-f50e-444c-aa0d-8168994a134c phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:90b2c2ab-c435-4898-a4bf-7d4cfa52343f phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23714749 uuid:03e3f8f1-80c4-4b20-9885-e0f75fda053e phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_disease OMIM:256810 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:2f51f0ae-a49a-442c-8bbb-9ea91eee6bfe phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:has_gene HGNC:7224 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23714749 uuid:f41a17df-6a49-4ff2-a761-ea20bbeae05f phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:e3e905e6-7b6e-48e2-ad71-d80bf50085bf phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:211507bc-8355-4e8e-baac-1ac60ac10e33 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:dc86ecab-8e07-470f-99fb-9a787237060e phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:654a3f91-b5b7-492e-afb7-03b9ad62a3b5 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:fd927933-8676-433d-9a30-80b809058409 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:bd606f5d-6b97-44d0-8916-b18cd856b609 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:4dd3a052-8f46-4fee-8c0d-65d5c115c7d6 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:ed1db37c-3a19-49ff-bd3a-5d7f4e6fca9b phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0008619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:2997ea99-d6b1-4981-8a6c-e89575b9e697 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:a5be16f1-4960-47e8-a550-d964d5a7e568 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:8657fe6c-e3cd-47cb-9aa1-b5580018a3d3 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:96f62635-882e-419d-b313-3619abc3ca10 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:ec3a2b5c-31e5-4619-93de-e67dd52592d0 phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31173466 uuid:9d031943-18d4-43ac-8061-5f5ada5607dc phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_disease OMIM:618499 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:31173466 uuid:61b0eac9-bcc2-46ea-863d-aae1710e98cf phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:has_gene HGNC:7227 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31173466 uuid:1c65f124-84b1-42fb-86a6-1a804f61cb74 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:ce53731d-d6ef-4295-9348-8536391b511b phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:824a6944-cd87-4ac3-8a84-7ff1f17f1631 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:02bab5ea-edd5-40d7-a334-d78cbb73b404 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:1e33f2cd-5c72-4683-aed3-d70a4cc0bfd2 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:cf83d2ba-589e-409c-b95d-f97ae8b3db7b phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:1e6bc6bd-69bb-4845-9dda-375433cacd1f phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:f31482c0-14a0-406c-b980-ae88c42ba35e phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0007605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:5b003dcf-915a-4475-bcd3-9cd78d054fce phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:ebc7c503-d65c-455c-9fd4-3e0a9564131e phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:5770df3e-a6c0-4256-be32-8fb3a4f443fa phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:bad695b1-0abd-407d-920a-58b2a6345057 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:bff0601a-b2b6-4b95-a3ef-c36864f24465 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:e20ad815-0f32-402d-a927-7b529ba38848 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28289718 uuid:2cd45e6b-94f6-488c-87d8-3059f668cacc phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_disease OMIM:618499 biolink:CaseToDiseaseAssociation manual_agent observation P1Y8M infores:phenopacket-store PMID:28289718 uuid:fbce6ef2-b603-4026-93e1-d89c27b773ed phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:has_gene HGNC:7227 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28289718 uuid:c9ed6e7e-25dd-4be3-81e0-e1b0780ecd6f phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:f191e5eb-353d-4216-b9dd-a6343015733e phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:056a8426-3c61-450c-a969-92a8d8dfa841 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:933b3f63-9001-4ed8-9004-ec52a0090845 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:8132a02c-7888-472f-8381-5bffc8061394 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:aea469ec-a8c9-43ba-b242-3012070e7232 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:113c8016-d758-4c07-982b-2332d78266fb phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:74a5e8fc-1cad-4a30-9dc6-655d2a990079 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:cad5b44c-371a-439b-aad6-8f119557da20 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28289718 uuid:5d73308f-0dd9-4122-8c5f-86ed66c8e5ed phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28289718 uuid:f8470550-0454-44cf-9f9f-c0b5f9efd1e1 phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_disease OMIM:618499 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:28289718 uuid:33d85ee2-946a-4871-9634-8e729536181f phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:has_gene HGNC:7227 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28289718 uuid:2262e88f-036d-4d26-9e12-81aafd55b789 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:37133451 uuid:969bff51-a16b-4995-a182-59dd47170c25 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:37133451 uuid:e3b0ff6b-3ea8-4e16-bbd8-c7ebaeca1c64 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:37133451 uuid:f6081b9d-c124-4853-a629-3167163ef901 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:37133451 uuid:0e0b653d-8a07-46f1-afa7-fdb7a05e1f18 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0012734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:37133451 uuid:e19d68bc-9d08-45c6-b48e-ed4a8e488229 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:37133451 uuid:00e84b60-b569-4a92-8061-696841eb48aa phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:37133451 uuid:faef4743-6f1e-4651-866a-9cd2da077135 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37133451 uuid:2ad89443-fd4a-4812-a82f-6b2be445794b phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:58fd7a8c-2bec-4f42-92af-1a4232df3acc phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:cb597903-489f-490a-8fcc-f03c2e22faca phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:2a8a90ec-ae4b-4bfb-b592-31caee85c699 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:e835a043-ae81-411b-83dc-a243cff37e05 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0012751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:687955d4-c58a-47de-a05d-3d5c7868d337 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:cff96277-fda0-4886-8488-69c7ef6fba80 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:1f5edce2-b77a-4ab5-9c50-fef63d3fd7e4 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:9ba83bea-1c7a-47a4-8001-2be329dbe781 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:15bceb2e-48e6-45a7-ab02-3d0dcdf88b1a phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:61a0cdf2-2138-45b7-b7de-559c81b4be07 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:fc3a4d55-d17a-4811-99fa-f69aa6ca51cd phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:c9de704b-b08c-4013-8861-0927fafe89a5 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:3d28440a-e52f-4f95-8a63-86d143a7cdd7 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:87191129-c78a-463e-8f41-1ab2f4ddfbe6 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:b7e799e0-8a01-4bd7-8b6e-db80c2055e7f phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:fe720364-2a46-4e65-8d9f-0d0832a0bed8 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:d8926a49-134e-4885-bf58-3ec15683d222 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:0768243a-985c-4ecf-9408-3a9dea0f6a36 phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_disease OMIM:620646 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:37133451 uuid:ac9d71b5-54bd-4125-a860-0ceefae7272c phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:has_gene HGNC:14027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37133451 uuid:b69ce427-76b8-4cf7-9430-7dbab03bfab4 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2D infores:phenopacket-store PMID:37133451 uuid:7ad25376-d31c-49f5-89f0-f1469dc1a74f phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37133451 uuid:8e993094-cb7d-4887-b16c-e3ca883558f9 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37133451 uuid:0d6cd32c-5f84-4d24-b83f-5ded89a7c07c phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:85b351ea-72e3-43db-bd60-9ab6913e5153 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:e02861e2-7bcc-463b-b2ef-74865e08ecf2 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:eb841420-915b-4cb7-a4a1-ca0c7387c5b8 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:7a983bcc-fc7e-4f0d-b857-908aa8f2d7a8 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:2b6ff1f9-5e19-4912-ae69-174d7e4b9129 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:d247a5c8-4c04-4ab4-948f-8af2fc839ef5 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:6310b732-d0c6-445b-8a2c-033f88f36551 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:28c9c275-fb1e-4075-adf8-3baa0ea5c639 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:8f62ecc7-aae1-4ca2-8b0f-4f5640555950 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:adb03d55-5665-468e-a497-e5e984102890 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:5b1ff61a-7791-444b-a25f-ed980d6b592b phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:867c8b4e-a97e-48bb-9d9e-de7c97820942 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0012734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:371abc55-51a2-4399-bfd5-02a166f07ecc phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:e9aea94b-3fbf-48fe-8210-6c634693b1e3 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:fc5d52fd-1779-4660-9386-08f068628849 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:da0ae3fd-97f1-46d5-8d39-50d7532af589 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:ce9a314a-c7af-4b66-86b0-db4f8d685ecd phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0012751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:d50f3dbc-b2d4-4036-b036-1a08aef75144 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:df86a809-bd40-4dd6-84ab-52b62efc05ce phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:9343e8dd-d0bb-4112-9c81-9a688301921f phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_disease OMIM:620646 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:37133451 uuid:add933ee-d4af-450c-8cd1-24518a784a54 phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:has_gene HGNC:14027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37133451 uuid:398ccebb-b9f3-46d2-bc33-d3541449ea6d phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37133451 uuid:8f55d6ed-b483-456d-84cd-61b7c9c047d7 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37133451 uuid:9fe34af1-3d94-4f47-992b-1b706e0fecf9 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:e186c6d4-459c-4320-91b6-f9b7c68c9ad9 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:8b27289e-8799-44aa-a314-868fd0633003 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:05bad3ba-7a30-4666-9b9e-3dece80bf864 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:8a57473d-17f9-4159-b782-1b14ade033ab phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:ca427262-0ec7-4e74-928d-def95245b9a2 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:e84f8cf5-8dd1-47d5-b2e0-d16e6787610f phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:37133451 uuid:737f092f-34af-464b-900d-f6833cf9b89c phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:b7a490e8-128f-4b34-a7c5-5d4a8efe45d8 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:70367d68-ac6e-4c6d-99f9-a75d19bfa7e8 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:f571b7d6-0a94-461f-8961-e49521c83737 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37133451 uuid:749a837f-e945-4531-a9f0-00810dbf74a7 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37133451 uuid:850d4022-3fbb-40fd-a921-c5dcd6b622ab phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37133451 uuid:2529ec6c-34a4-4182-869d-b7bd149a690b phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:d6c4316b-3291-42af-be57-d2511ddace7f phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:a0a86da7-5d59-4f6b-b3f9-a439962f67f9 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:e29145fe-edd5-416a-8981-9e6a34517bb4 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:ed217554-8181-4caa-ba88-7b6d6294d38b phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0012734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:f1767f69-0529-493a-92d3-58a800e8db90 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:414aab92-a7b8-44de-9542-8187a6d99088 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:4bdd722c-b189-43a2-895f-a53339fc5ef5 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0003215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:bb5a70a3-cbf8-496e-be54-5ab852bc412c phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0012751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:6b821dd1-4e01-4564-91a7-55b0f0c0e1c0 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37133451 uuid:8bb5ad70-7bf4-453a-a7cb-03b052b49c98 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_disease OMIM:620646 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37133451 uuid:2e32675d-ebc0-4be6-8b42-1624b7aec507 phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:has_gene HGNC:14027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37133451 uuid:d4d7a60d-25f4-4aad-90ed-ca644dc1c0f7 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:27753196 uuid:ce742925-52b6-4af4-a43c-ceb6b319fa93 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:27753196 uuid:ae08ea57-17c8-4d00-ae8b-c315aeb4330d phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0030255 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:27753196 uuid:f3be6b42-d07d-4834-8651-3bbd80a51fee phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:f5f74c93-4afb-4d11-a6de-07b22fbdfba5 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:608322e8-f047-4fa4-8648-a2ce6040b57e phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:cd2b905f-ef75-4f1a-95b4-295a7ad2b625 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:c9dcb8e0-36f3-4593-92fc-6cd2bda8e80f phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:69c58234-2d41-4042-b009-21b08ce2f0a5 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:131714f9-649a-4c6b-99d8-c5143ae92b06 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753196 uuid:f98db46b-3014-465d-bafe-1741acbca6d8 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_disease OMIM:616638 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27753196 uuid:3598142f-2fe9-4074-b66c-0f38dd6a7059 phenopacket.store:MTOR.PMID_27753196_index_patient biolink:has_gene HGNC:3942 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27753196 uuid:e3e8a048-0358-43b9-a9e3-a8415d763e74 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:2dee4f07-c8d4-470e-a994-25a87b4d32f6 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:19949040 uuid:dc0c8c95-4cca-4901-8eea-a1e7c57d9cec phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:9c7a3faa-bb9d-4246-9db5-8b7b24446cd1 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:74ec85a3-d9de-4645-bdbc-9dba12389af8 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:40e4bcb3-b22b-47ef-b9e1-049cd6869e93 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:718241c0-5205-48cc-b2b0-602e0345ecfb phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:cd93b022-17ac-4b11-b910-a72ced001818 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:483b9156-479b-444b-9141-4dd958e5de2d phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:9f9097aa-e43e-4551-9fa0-09cc660ca7a3 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:bb64c539-2058-43d5-a700-60fb3b7de0e0 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:a2fccde1-a1a3-4b13-8f01-11495d26ae01 phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:b09ffd30-9942-4b4f-af3f-4bff795dc86c phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:95b9a396-7cb8-4064-898f-26c35783b16c phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:293a9925-8e3b-4b04-a3ed-2a8df99a5980 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:d0aeacfe-f556-4e43-9483-03eb69a9c7a6 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:e3a426c9-3870-4a41-a80f-3a236ea9403f phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:62c0eba7-ba67-4ab3-b228-f24de2fc664e phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:b7f77f6a-93a1-43c5-af76-3c9e8ba284cb phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:e06074c8-3588-4e00-98d3-9a4030d470d5 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:587705db-c082-4515-a5d5-48149620ff1b phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:8bcbc3a1-15ef-45d7-882f-e074405f5ffe phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:204c0de7-4128-4810-811c-5a76e09c4bca phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:80526114-efbf-488e-a788-0fe984e38555 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:e49b6100-02e1-4357-8909-07c89020cf75 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:5e5023c3-ba30-4f02-9e9b-ef9ea5f76de7 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:50e03c73-4161-4395-b5f1-788f05bf62e2 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:01cfb5eb-764e-4950-9b11-0f4eae1c61b2 phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:049ab2bc-c9f3-45cf-bb70-918a28a64e8f phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:84f5d8cd-7750-45c6-8050-221cd28ca791 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:4cef766a-ddd3-4f65-a137-828782d06ae7 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:4cbdcf01-2f4e-41fc-9991-801cde8d6221 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:2b52ad59-0831-4a26-8dee-e5be6b46b059 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:31c66d3c-1229-4f7d-9e7c-c778ec679183 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:b7667ea2-6896-4867-ac70-60384b0716f6 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0012473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:0cc88008-9f6e-4fa1-9295-12856d004239 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:23326516 uuid:2f249a09-16ef-46b2-a46a-17e7e7245b88 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:23326516 uuid:09e4197e-ce92-4627-a8ef-d8e27edaa760 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23326516 uuid:1c38c5ff-a6fd-4be0-8401-2233f9e940b9 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23326516 uuid:0c2f3b9e-6609-4eff-b7e1-d6e60a603d3d phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0030208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23326516 uuid:ac846ab6-a868-4268-9f7b-e875db6650e3 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23326516 uuid:7baaf497-7989-4dac-aa6f-27644c6c1b8e phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23326516 uuid:f7beb342-808b-40e4-a938-55b0f8350953 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23326516 uuid:ae579080-33f5-4122-a86a-a8cbacf089e0 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23326516 uuid:06f9e1b7-6614-4b79-aa90-f9142356a058 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:23326516 uuid:711a7284-1c6f-4822-9a16-8fd444fdef56 phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23326516 uuid:325bd25b-6bb0-47e1-b69d-2d5d9f652d52 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:19949040 uuid:9b99ce87-7c5b-4ad5-8fbf-58e86553d5bb phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:19949040 uuid:88c44907-9f7a-4512-be92-45a167fbeb28 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:f6322cf7-b25d-4358-b186-4c0946467853 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:507c325a-d4fe-4eb9-925f-c2439d18acb8 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:ef64f723-4f51-4e09-ad38-4ba88c2d98cc phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:83d2ad78-7e2f-45a8-ac98-de5393f3d0c4 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:f47d2c84-1213-45aa-9bbe-de93d8e09215 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:71a2cb7e-5717-4863-9ba2-629b0239ebc5 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:67fe0439-b7a4-42fd-96d4-076e00e88feb phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:f89b9608-ef74-4063-bf33-77a7ef8fe100 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:15dca5b3-b883-4c74-afc9-6a468901ec35 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:f0fb0272-7d1c-4851-bb5a-f58be6073a4b phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:778fafed-3f7d-4b70-b73d-49d832f21df5 phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:cd60e480-c78b-4eb5-943d-36b713613410 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20371544 uuid:cba3e11c-05d3-4096-8c71-f18262640e5a phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20371544 uuid:ba4a5886-2a24-4f7d-b17a-000d06e4c906 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20371544 uuid:44c3b5d5-f9f9-4c68-aa33-029299291443 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20371544 uuid:64e38206-cb66-4db0-904e-180adba1e659 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20371544 uuid:21ed9068-5a83-4f8e-9b6e-085b7d072cf1 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20371544 uuid:a3a921dc-cb41-470c-bdff-9598d9eda088 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20371544 uuid:202ed573-f1ac-48b6-bc61-9a38d00b5e37 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:20371544 uuid:8e8c48ea-c95a-481b-91c5-9b47dfc7746b phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20371544 uuid:24ea3bed-421d-4b30-99f4-e41df95b015c phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20371544 uuid:15c527ed-11d3-41d1-b21f-edd2cdb618d2 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20371544 uuid:b95b3a65-756f-4710-92a7-978d71d9df78 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0030208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20371544 uuid:4fdbb3c6-7198-4950-aa15-14e62355ae20 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_phenotype HP:0030210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20371544 uuid:84f97a42-4438-4fff-a028-a9156f8c52a2 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20371544 uuid:22098092-92c6-4f71-b4da-7b7baab0e398 phenopacket.store:MUSK.PMID_20371544_patient biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20371544 uuid:5f381c30-dd4b-4db9-877f-4b591b0172b5 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:55c7f0cc-6348-4f62-bac5-c315f3096f8b phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:c1f7d108-47d2-4bfc-8189-e67bbb09a362 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:298de0a7-0ce2-48bf-bfe2-a8bacdbc715a phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:90645190-e158-4275-a970-13a934729d27 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:7cdadff6-f14d-42cc-87ca-6f980957e392 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:7cd9ee57-979a-4d09-a2ea-4f1824fddfce phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:0d30b7b6-23e7-4573-8ed4-8fe333941c28 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:4761d592-d646-4f57-b70d-fa02b8f875af phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:20541cd0-a8b9-4b08-bffb-9278ac50996d phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:12230151-72ac-4081-81b8-3d5f333cf2ba phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:b5ebd24d-f7ec-4703-aa9f-66a53f6187c6 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:8c995e1a-b96f-4396-bf29-8ee3a465f9fe phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:a57bcb2f-5898-4623-93a5-7327918c0c18 phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:6651c4c9-8ee2-429a-b91a-39ab7b665ec4 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:16f8d450-7af2-46e4-a04a-0d425293aa57 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:799bc119-7af8-4ef2-8b12-16d7c3e66cb6 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0003547 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:e00216c1-74ce-4621-89fa-4ab0b17c9e43 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:68ed8ee5-9bf4-49af-97ff-1c89fe3d5868 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:4abfa8d7-0aa3-4816-b8a5-a4df2efa6395 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:0dd79097-641d-42e9-8e8e-1a0ea89e039a phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19949040 uuid:e4391c86-f491-4932-a219-c4799cd4e2d2 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:0304435b-18ab-4a45-86c1-9f32abde820e phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:4d80a2e9-8be3-46d5-878f-f29201aaca46 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:71e1da35-ce95-4f72-9afa-f664aea9668e phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:c839395b-5ee4-4ce0-8a81-c2e106dd2034 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19949040 uuid:7054cace-9fb1-42d3-aeaf-4cdc1b56c590 phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:6017f844-4b71-4808-ac17-5563c73aa45b phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19949040 uuid:b0ad0967-bad2-4cc6-a17d-a4d6ec592c95 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:15496425 uuid:3c878c73-fcfb-41dd-b61f-c9adc4fb4563 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:15496425 uuid:1a1a2d2b-5cb5-4800-b2df-230d51227c70 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:15496425 uuid:da2c0925-e8ad-4868-9459-15e920a1debf phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:15496425 uuid:514f715a-63b0-410c-b217-3bc70ef44d98 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:15496425 uuid:c958c974-c242-42cb-b252-a5627a1e6122 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:15496425 uuid:e938ddea-80a5-4b05-8114-d7a3b17692de phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15496425 uuid:45fa1c33-5ce8-407e-8094-4efc1fc3d523 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15496425 uuid:4e8c8095-0bf1-4a68-bae3-be95e215e264 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0003388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15496425 uuid:c70948ef-b17a-47e2-8ba1-984820096493 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0030208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15496425 uuid:3d6ffef3-85d0-4e7e-8738-05849b5a4522 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_phenotype HP:0030210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15496425 uuid:b00944b1-be2b-4922-9954-80b2602162c8 phenopacket.store:MUSK.PMID_15496425_patient biolink:has_disease OMIM:616325 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15496425 uuid:31d20cbc-e166-4290-9498-7a208917a6cf phenopacket.store:MUSK.PMID_15496425_patient biolink:has_gene HGNC:7525 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15496425 uuid:07d057ce-9fe4-401b-a28c-23328ec27639 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:fae3443d-8498-46fa-933f-f1fc677d6cad phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0001355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:36411c8b-40eb-42a0-8897-4705fd606cb4 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:f8711e38-024d-4739-86ed-6b13cbf0d683 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:98dc9883-885b-4dbb-9c4e-441a631e7ad4 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:898a022c-c30b-431f-bcc4-6b519fbf6ef0 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:f341d8dd-d5ec-4e01-84cb-ccca1ea70afa phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:ae764d12-9963-4233-9d33-749d87b97ab9 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:a1cb8043-29df-4685-ae7b-6ace4188e139 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:80e921fb-7824-4940-9d00-4c43bc40f34f phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0002245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:dd96e5aa-a52a-4146-bd9f-5585f2641228 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:da92fa55-0111-4117-bbc3-542035ea3484 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:5feddad2-a7db-4cb9-ba04-03b702a42ae6 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:c568df93-6232-4459-867b-a6cafcc29c82 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:5a0fb736-7cd5-4077-85af-1aec9bece4de phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:aa4544be-5aae-4928-ac05-6b2ad9d7cf42 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:68891e04-8313-4030-8d24-8d0552fcce1f phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0032407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:58fed89a-0944-480c-80e9-2c4a87c9704f phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:c23a6e40-f55b-4f8a-a8fb-e6a8cbbf7411 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0005819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:8a9e6366-f60a-49ab-a7a3-29540226c5d7 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_phenotype HP:0002589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:a3cd8193-a024-4f9a-a9b8-c6906afd8232 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_disease OMIM:620748 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37710961 uuid:df4b1797-3a98-4e08-bd11-7d02a6e100c8 phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:has_gene HGNC:7559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37710961 uuid:be2702bb-90d1-428b-ad4e-afd63c2e5add phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0003006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:37710961 uuid:478ae3e8-2dc5-405a-b9cf-ad4d5cdafaf7 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:24a5ef2b-50b7-474e-b8d6-e1b0c4567e94 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0001355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:12b27289-bf2c-439a-980c-1632207fa369 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:81781999-2936-4083-9830-05fc0623fd33 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:5b245f1e-f414-47ae-af52-a4767fd122ef phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:59748b3f-257a-486f-b220-216877b60a6b phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:1cc6636f-8a63-43e0-844c-a891f4cb4f2b phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37710961 uuid:7106db4b-35b0-462b-b830-77ae25634f54 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:1a2ada26-c000-4249-b279-cde77c96ec38 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:7a55be4e-ebc5-408b-b6e8-735aaa2da00b phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:3756d107-7887-442b-967d-dc352d7c6b1c phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:646ba85c-771e-4fe8-af98-489871db60d9 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:8e54a4f7-1565-423b-b32a-ff58cbcdea98 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0032407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:053972c4-b551-4f45-98b4-2bfbd90989fe phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:b9851b30-189d-4b69-80b4-82f43bf44c30 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0005819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:0497ef50-d8ab-4661-9394-d043a623cdfa phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_phenotype HP:0002589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37710961 uuid:b798fb3f-77b1-4a87-bdc1-7bc0b937e294 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_disease OMIM:620748 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37710961 uuid:4a12ccaa-3580-48b9-8bfc-b5ca5b535670 phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:has_gene HGNC:7559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37710961 uuid:561b209f-e961-4df9-9918-3790d6033079 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0003006 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30573562 uuid:e045f15a-7007-4dac-80ab-68fee78f0831 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:0586ed8e-4e59-4a14-8a07-08e2f82b85cf phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:d504d9a7-0e24-432a-97d8-f85211f67c78 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:9d2f2b99-2bce-4354-a93d-6887d007e404 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0009110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:757bcc93-1114-4d85-a6d4-cc3a1ea48ffe phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:898e11dc-fdbf-4ca5-96f1-ad60bf63c508 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:6e990c6f-e499-40f5-ad7b-7eb7f4563787 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0001355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:44a4e08c-a463-4548-a8cb-748d9fbba21f phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:0fa8c4c5-ecec-46ca-9475-573d931fa257 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0011230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:38de92e9-4f23-4101-b9a8-19128a065e8b phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:25d0f031-e67f-45d5-8a26-571d73eaf6e9 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:6a170844-03f1-43af-9d6d-99e059be2f7a phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:375d88f7-4d6c-4e14-99bb-c468decb8ec1 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:b1b4f047-334a-429e-83a5-a2293ef7ed6a phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:4138f3f7-fb80-4430-9f78-da9f4108774e phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:5d304da9-8710-4847-b586-089a58df60e2 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:94f320fd-e31b-4748-8c98-bcf5bb516b0f phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:ca153390-0149-45a4-8262-e9af832d4b12 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:74e2cdb7-19ed-44b7-b3c2-b88eaf9335fa phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:aefee480-cdbf-49e1-9d5c-aea2c191ce93 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:117386ac-6d7d-4cf6-b30c-95a7b5c6cece phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:77a076fb-a5e2-4a2f-b084-e9113276b3ce phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:8326815b-4ade-4f9e-8ec3-60e9f41b579d phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:bd27b623-1c23-4259-8ef5-7c64b9d77fc9 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:448c1e80-92ec-4992-823f-c23386e7739a phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:62cc95d7-2b10-4260-8802-82a0d230b3f9 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30573562 uuid:61efabd9-2a6f-40e3-84a4-dced8985c6c3 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30573562 uuid:47ad7a6e-1022-47cc-9ce9-27698fbe7ff5 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30573562 uuid:34647da6-1dd8-47e2-bfe1-bad3a519af6e phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0032407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30573562 uuid:bb8bdab3-878d-45fe-a8b7-7ab10fd1b077 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30573562 uuid:df148020-96c6-476b-ab46-fbe5cda6168f phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0005819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30573562 uuid:879f428e-f1c2-4a4e-9893-e054e4ce8ef5 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_phenotype HP:0002589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30573562 uuid:e91a4c96-f2a4-45f5-a295-ccbc60f04e30 phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_disease OMIM:620748 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30573562 uuid:327d2337-29f0-48f7-be82-d0f43cac54bc phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:has_gene HGNC:7559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30573562 uuid:b780b68b-aa34-4644-b5a4-19a5620c040e phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:710fcb9f-4a93-4222-aba4-fddccb2ea7b5 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:5cf2b2d2-0f50-454c-a8b3-3b35c9f33abe phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:7bac0711-c007-44a7-85e7-5fb265c04c54 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:0f68ea43-af9a-486d-8147-05a405d0cef1 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:828869c5-5a19-4c62-a819-be90d8937011 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:22d14316-a0a9-4d55-a738-47b168b595d0 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:347c2afb-da97-43f4-bd93-76f430793660 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:72bab7c5-f546-4b6f-9264-79c13d227a5e phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:de916e7e-1253-4786-9c02-dc504e3573bc phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:5aeb69ba-a407-453b-93ef-ecc61541526a phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:64bb406c-f15f-422f-af40-261f8a4d2db2 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28584669 uuid:a4ec1454-16f1-4fd1-8623-e215998ce06f phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0003191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28584669 uuid:57adee89-7409-40a5-9797-4f0691db5451 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28584669 uuid:84acc72d-4146-4671-9f0c-e651f83d08dd phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_disease OMIM:193700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28584669 uuid:aaf1d4a0-da93-4061-bf5e-c237ee028a76 phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:has_gene HGNC:7573 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28584669 uuid:ea9a3042-6472-417c-af84-7cf93722e68c phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:5fbb5284-6854-4683-8444-6eaa63b79069 phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0003191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:dd3a5273-c001-4861-9fe4-bfb09e5d041e phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:46cca8c6-0e61-46fb-a06b-ea20368e6f9c phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:a4548e82-6156-4779-94a1-712ded736d7b phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:5007059a-0817-4a9f-8c76-d4c0e1e1cbd4 phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:afeaa2e5-2005-43c9-ad11-db5946ba20dc phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:fb6949b5-909c-46a9-aab0-6373035122b2 phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:f38aa636-cf79-4dbf-874c-a0fd57654927 phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:bce672da-a34a-4110-b326-3515b540d119 phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:20924721 uuid:e96060b4-7de2-45bd-a2bb-90e43dcf46da phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_disease OMIM:193700 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:20924721 uuid:5d096990-7453-4d66-a0e7-151e2c6fb6f9 phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:has_gene HGNC:7573 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20924721 uuid:2fe08a53-9ecc-4182-82e2-6f7dc788df6c phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:a437ac90-af21-40e2-8ad4-6d4bb8fe09f4 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:a3c9b96d-bf68-474d-93f6-44a9647e628e phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:dd87dff3-0984-426d-86cc-7133e1aa5936 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0031237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:44f2661b-6267-4a06-bc74-55376169ea23 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:b6080e8d-b697-484b-9fe1-a14daf7412f7 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:0380a136-eeef-4da5-b96e-694abeb558d5 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:f646199a-9823-4384-8ec9-21c51970e4a9 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:26fe6e20-b911-4627-b26c-412b0d9c069b phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:19458539 uuid:740a429c-e46d-4df0-9fe0-ab3663e23219 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:19458539 uuid:5848750d-cf5a-4d67-8ce1-b67c34f35631 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0003698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:19458539 uuid:e7b0950a-1587-4fb9-99c5-bedf3bfa6125 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19458539 uuid:131630de-c200-4a47-b5ac-56526d2508d7 phenopacket.store:MYOT.PMID_19458539_patient biolink:has_disease OMIM:609200 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:19458539 uuid:e08a77e8-c7c5-48a3-a658-4f8ec7581f3b phenopacket.store:MYOT.PMID_19458539_patient biolink:has_gene HGNC:12399 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19458539 uuid:93478ca5-5161-4715-84f0-bb5ad8550879 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:30055078 uuid:d849d2ac-51c4-4d8c-b93b-9c202ff79aa6 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:30055078 uuid:b33e490b-d508-43d7-94d7-750174f08a54 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30055078 uuid:28388b29-b1ea-4e0b-a0ba-9cf999d54ead phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30055078 uuid:f8e1577b-131e-4a26-8491-cc44e4a9263f phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30055078 uuid:48d6d74a-8a35-4bb2-9059-d98b9ab39e2f phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30055078 uuid:9167aaf3-b7a8-4993-af85-08344da42db5 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30055078 uuid:41495f0d-3c43-4c11-8b91-00ed66f18abf phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30055078 uuid:9cb5f36b-3be1-4723-aec9-2690f160f714 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30055078 uuid:ef29d512-c831-4549-8703-0c743943b89d phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0003118 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30055078 uuid:21d356c5-4784-468f-820b-364993bf8598 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0011015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30055078 uuid:c0e38d1e-a395-4949-85e0-81139e25668b phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30055078 uuid:19f70b61-633d-4b8c-a878-8f5a41255427 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_disease OMIM:616521 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:30055078 uuid:fc99e1c6-e11d-4e83-b8f8-5806c9bc7561 phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:has_gene HGNC:7623 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30055078 uuid:3da90492-e22e-41af-9692-3b3078ed2a69 phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:35840178 uuid:c7df72ad-d768-4f09-98f1-ea7c466d5d85 phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:35840178 uuid:0901ed4f-6c83-4aa4-8ffb-02a851cb282a phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:35840178 uuid:a8aa4edb-b019-4e92-9deb-8363d7154292 phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:35840178 uuid:0ff4980a-fadf-4341-b0c8-e52bbfe95de0 phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_phenotype HP:0001685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35840178 uuid:9792c3af-76f2-4c98-986a-7634b8f8cdb9 phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35840178 uuid:003b8e54-1d10-4c63-9cb6-0df966135b86 phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_disease OMIM:620894 biolink:CaseToDiseaseAssociation manual_agent observation P14Y6M infores:phenopacket-store PMID:35840178 uuid:a29e16bb-228c-4daa-8f6a-58c02f2cff0b phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:has_gene HGNC:43444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35840178 uuid:d73ccd8e-d21c-4302-85ba-0f31b4a4d377 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0012663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:38436102 uuid:220856d2-f819-4620-b992-ecac0ba3b78f phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:bee163d9-6d38-42fc-8bcb-ab76605b4999 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:a58761ad-a189-4ed7-926d-168f61964c55 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0001685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:4a4240ea-2a8c-4441-91bf-0c14ca874370 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:e599064d-7763-48d4-b3ce-dbd4100ff57e phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:1d8d5e9d-f6d6-4281-8bf0-aad6ae8fe2a2 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:4da1570c-e191-4b3c-91ad-9012d9469e33 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38436102 uuid:4086ebd7-cbf4-4b8f-a7cb-b17eab1570c5 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_disease OMIM:620894 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:38436102 uuid:1e279c2d-5ecc-41c4-a44a-900d6165ee50 phenopacket.store:MYZAP.PMID_38436102_proband biolink:has_gene HGNC:43444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38436102 uuid:7cd160a6-0773-4800-bf99-9ed0780d7106 phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:35840178 uuid:224bcf1e-a436-4b44-98fd-bd95c54ea755 phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35840178 uuid:92f6f13c-37e7-425a-ae99-17108a3a7934 phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_phenotype HP:0001685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35840178 uuid:82e29a56-f159-4d4b-b5ee-f961d65bf4d5 phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35840178 uuid:a7b6fcf9-e96c-481b-a006-327587b70bd5 phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35840178 uuid:1a239e6e-7fd4-4363-8a0a-fc3e5315f1b1 phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_disease OMIM:620894 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:35840178 uuid:aaa4dd7e-254c-4661-a2bf-905f6e79357d phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:has_gene HGNC:43444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35840178 uuid:9da79e41-5190-47f7-9400-4eb0b556b37b phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_phenotype HP:0012665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:38436102 uuid:03402eb7-84dd-4e3c-aca8-36bd4129a04e phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:3292c80a-1432-4b83-8be6-0fe9d7be3be3 phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_phenotype HP:0001685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:6aebb2cd-e737-4e8e-9846-83f26499d8c7 phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38436102 uuid:0a4dbdf9-95c8-4f40-b1db-68acfa3a1a07 phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38436102 uuid:32c8f34b-f80e-4464-82c0-dac24dec3cf2 phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_phenotype HP:0012666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38436102 uuid:816d1266-e973-4f8e-873f-73c3682fde7a phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_disease OMIM:620894 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:38436102 uuid:9819e6b9-38fd-4e11-a8aa-34418f8dc3c4 phenopacket.store:MYZAP.PMID_38436102_sister biolink:has_gene HGNC:43444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38436102 uuid:5bc31b22-c24f-46cd-baa2-f5d732e77fbc phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:38480682 uuid:1d29ccdc-8acc-495a-9b4d-4ca13b83f2ac phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:d98f3dfd-4886-4436-8388-e0bd11a4873f phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:d0a8abc5-d23c-4cd8-b5c7-d3fc37a383eb phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:363b9a20-272e-4125-b9fa-8de1390cb185 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:67608a31-d448-4b85-9d96-974ef7d669d6 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:a1252a68-ba1d-4037-b624-193abc03e3bc phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:31598c3b-a99c-4e33-9ea7-7820c7145109 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:7692b6fc-9316-4752-874b-ef1e0b532124 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:e186a662-076a-4375-b41c-249840aeff4d phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:5b0d8a52-1e4f-4df7-bc02-69e43202440e phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:46e952ba-2f19-4bb0-bd84-e804563794dc phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:e7760631-f038-41f2-a827-898fadc9fc42 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:fa20e70d-425e-40da-9355-f337c6958a23 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e41864f1-a1d8-4d0a-a7fa-4276761454e0 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:00b482a0-8a00-4e9a-971f-e5f4d9e47c43 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a57b8fae-0206-466d-86ac-355ad47dc1d6 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:47dce584-068b-4e7f-ab68-9fe618a7ca0d phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:67cd7998-56c9-46e8-8367-e4a6f9ea6437 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6179b0ef-9c08-42e8-b4f6-c137f631c5d1 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:4b3f8073-1c72-426d-82e4-207e44af2149 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a7264cfa-2ca2-46d2-ab79-d08e1750e456 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8a72fbd4-1e75-44d9-9668-a5b938454eb9 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2035721a-fe22-49d0-a255-be799758c38b phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:733ffc6a-e534-46f8-97e2-74a985ff4728 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:335f5682-9009-420e-a433-68ec63c6a2b7 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:78b2034d-e2ca-4918-b1d6-cb01a619429b phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e235fae3-6456-49cf-8344-2c5fc1f29d9a phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:5aa484ec-5eaa-46a2-a140-3708c183ef10 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:175ae840-ea3f-4846-b934-80b1e0be242a phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b1387fbb-c5ec-4c7c-b585-d454b6fa1820 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:78fc5c5e-2751-4524-b0a9-a64029d1b256 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:19ca0841-26b1-434c-9ed6-e8aa14c9ba49 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f6ecab49-5832-40e4-ae6d-fedd8c96b921 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:54660964-e69c-4e28-aa20-388870656e49 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ead85af3-0fd0-42d3-9fc9-8092c21d0573 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:47974c86-ec98-4158-9a59-c623bb296b60 phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:8a473a24-06f6-49c9-bc8d-08a0e913576b phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:c5083499-9964-4fb7-995f-6c1e4df2ebfe phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:38480682 uuid:835acba4-e4e3-4d2b-815e-7e18c851db1e phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:38480682 uuid:ecd9760f-1d57-45fb-a460-f6c6de0a367f phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:c291a533-ce06-4c46-8a03-553d2a7ad108 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:001dea1e-77e9-4c4e-89bd-52ea6c0dd681 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:520bd5e5-0bca-4ebb-8b71-42556dfc4b3a phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:38000959-aa5c-4a06-b91d-fab33c1b245b phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:d468512c-281b-469f-a8ad-47dba85c98dc phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:fe93bab6-d25e-4949-a6cb-bd6204db70ba phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:4f90328e-1920-43ac-bfcf-5ac12876f310 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:1f004d4d-c6db-412e-9706-9b655098f3e0 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:9fe6b2d3-8001-4278-b123-167d875f6f51 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d1b40110-e0a0-41d3-be90-18594c49b9f4 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9f949525-bf5a-4860-9628-0f7460c69bdc phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e5dc06d8-8c8f-4e6d-b5d5-773a05a1ce4b phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:86466564-d1a6-4743-9aa4-dd550b806ee7 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cd7a8491-b5c0-4a7e-bdd7-caae783f4392 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:5a50b941-4c8d-4278-a87b-44d08b628e85 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1c75f125-b3f2-4d76-91c9-6bf161a3192f phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:546ac7b7-7a03-4f3c-9046-717957dc3063 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:192908aa-2265-4b71-a60c-96d5ce07bd59 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:399af0c3-065d-481c-bf14-41cccf60beae phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d009607b-8495-45d3-9b7c-ab91f0effa00 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ea72920d-c2ba-44df-bb53-d4f84d269cce phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c99c4a2e-f1d1-46ea-a6cd-f79f5da16f84 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c10fe8f3-e13b-4f80-abf5-b2653a1ea93e phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c633b246-47fe-459f-9d4e-0ff9f36620f7 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:80d389d0-27cf-42cf-9286-e0727ac83fab phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:bf82735a-10d5-489c-a633-51be4d967b1b phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:31b8d858-188a-41cf-8b33-4d8d8e9cb171 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:dd23523b-7728-451b-8a62-d5fa751f12f3 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:345e69fc-953a-426b-95d6-8f01bf9f510b phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:15e99b81-5b9e-467b-a415-17a6708989dc phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2b150ade-7028-4d72-a0ed-f011ecdbd812 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:398b9dfd-218c-4318-be50-6c583de936be phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a443aff9-75d1-48e8-8920-a5f35c615e0b phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6c3dcf67-01da-4c7a-bf1c-ad2879495ca2 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cc550cc6-00b6-4c8b-b715-4ea124da6c17 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:c5141986-4fd8-4d4a-9c76-079b4d840b8c phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:d3ffba90-2467-46cf-9754-c0b15767133c phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:38480682 uuid:7cfe01dd-d546-4f07-9f30-f5aaa3195d13 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:7dd33e67-d1f1-4eda-807c-3a96b85c44f8 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:f4c6f64a-a4e5-499d-94fa-a2d23c26dd0d phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:20cbc2b8-647f-4d35-9e40-8442d3344a4b phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:4473888c-5412-408a-9df4-6dc5bfafe12a phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:42bcdcb9-0eb0-4287-b0c9-9e29eecdd4be phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:e849d2ad-d14a-4957-91ad-1bcf219509ed phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:859b0425-c75e-4863-a6ea-9bc28b333eeb phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:9a08ddb3-5e68-4717-aca8-91c439ffd46b phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:27052e3d-81fe-4ede-b4f2-d3aab99a8ac4 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:22088a21-5398-430c-a60a-91ca7d1cd094 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:91bcfaae-e28c-4117-90de-b39e50b20e0e phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7f3d0e78-7d9c-482b-a2da-645d83ed5fcb phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:175573a1-68ff-46b6-a8bc-62fa8d4b19a6 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:81c05131-0aae-4b7a-a0e8-4c0bef6506e0 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8df424b8-d3d9-44a3-899f-7c013a797e92 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:72baabd4-4779-4361-9b0b-28a2afdf5ab2 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9811225b-dcfe-4a4a-b0e2-69bf1ec400b2 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0f99c111-70ab-4441-ba10-5d07fadf491b phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:975a79ea-e474-4a5a-b015-d89f68587a37 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9c1bf078-ca02-44b7-98ce-ae9034cd801f phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c96e98b0-9bfe-4184-9eb4-1edd85a0ab3c phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:781f4935-687f-4efd-9f21-92ce9d666dad phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cb36a758-0a49-4253-a153-02152f8f7ef4 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1e52be7d-e333-4c47-b5c9-10f2b54dedc8 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:598aa899-93e8-4c52-91ed-865eee1acda1 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:550dd7b6-c151-408d-9f60-c23ec2533a5b phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8552e479-069c-4fb6-a8e8-444c9220223a phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9bcffd4f-3db8-4959-b29e-e34c299c6d60 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:fb3fbf8b-8bf5-433d-9a12-0dc51e167358 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:4698a193-935c-427b-8fae-a06d7ebe0c51 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:5a0b7479-9e56-4c45-9f00-83b2206d659d phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:58943f1a-51e2-4f93-89ff-edee4e320e30 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:87eabebd-be09-4d9c-a39d-2ccde4821052 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a1d95631-36ce-4a67-824f-9baab75e3240 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d403b0cf-fca5-457d-b1c9-7de85a1dfdd4 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:020e1320-40f8-4719-a2b5-655249381a50 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:5aef8fc3-3081-43b8-9e99-c0683502c054 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:81b7b582-5a50-43b5-8d38-7d851cc87093 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:98dd40bb-fcc3-442a-841d-5937a828a93c phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:39619b9e-9235-4bca-a525-a3df7f37d8df phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:c4de51ec-dac5-4c84-bd57-559b73340ee0 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:f51ec749-fd99-41f2-be56-d32643fe9683 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:bea776ad-28d1-49ef-82d5-d634f38a175b phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:59d06df1-48d1-4a2a-8d5b-5f8bf26378cb phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:4603c9bf-a73c-40ff-9091-5e1d89445ab1 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:892e0728-1ed1-4222-b1c5-68f900589150 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:822449ce-2854-41fa-90ee-243263902cb4 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c6a12332-7fc5-45e0-8acd-a9ed365733ca phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:01715b6d-8d0f-4ee1-bc45-031bad498302 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1cf476de-bd1c-48c9-9a83-f344f45b0024 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d921a13a-3120-42a4-83df-bdeeaea6915d phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8daebba1-ff79-4069-b9b7-1acbb7389b2f phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6a2b1838-c918-46c7-9269-ee0503750597 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1c42e19c-15df-457e-bbea-75f299b21426 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e9caf0f3-c06e-400e-a7cb-4b22456608bc phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:88613353-9fb7-4d85-b9e1-84a1f0e07998 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0440349b-2452-4228-84be-42294f2d9649 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9802d7d5-8381-4b0f-bb21-1495def2e35c phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b1c0f76b-6295-4837-bc34-5452226d3300 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:552c1a59-0a6e-4e82-b239-877ae83060fa phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ea76c9cb-43ab-47ab-8c58-8be646f75977 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6ef789a9-c917-487f-a1a9-f8d0db9c8fbe phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e7c8cc21-28cf-4fec-b7f8-a196206f6e55 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:3e8391cb-c762-4ba2-844e-f977469d3893 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:df672b60-66b2-4eff-9df3-2a442f6353a6 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c2bf471d-9a91-407c-bc9a-fe1739edb7f3 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cb1d6f03-cd8c-4505-8fc9-a6690f5ddfbe phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1123a001-c6f2-46ce-aacb-35fd5b8affb9 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b12d9b32-0885-463f-9f42-d327090fafa9 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f9b69a1d-b101-456b-8dc6-b4689e4bb38c phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:019ea8dc-b913-4108-9dbd-c1b6ab8c11db phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:455e353c-23e7-448d-8832-22bad1e1ceb2 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:38480682 uuid:0ac4b454-013f-4745-935d-d7cfb52c4184 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:38480682 uuid:238f8aff-6bc6-405c-b124-ccc2384e0cd4 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:64c8b51e-a8e6-4ff2-bfad-f18aa2b6287b phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:6ba36cd6-251e-48ff-9a4a-ec13c83a524f phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:e8de0e3e-fcff-42d9-83a1-10b80a3f84f7 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:1e31cb0e-3469-413f-9ce2-16df6b196891 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:cb2b3b49-2e9f-4b3d-9a3a-e0dfa8ccbf8a phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:9f8e32e6-5183-499f-a1a3-31ad73cdb199 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:29b443b5-fe94-4b45-b886-1c6018befc68 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:269f2319-3a66-4847-9d17-fcfeaa90ed60 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e4c210cd-9e3a-48ff-93d4-5a8de9ff1afa phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c1300984-0632-424c-81ab-f42a5b5dbb21 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6a21f673-408d-4e1e-be1a-234fd0135972 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6932bf8f-c91a-4fb6-91e9-32ed72e9979c phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:052257a0-64c3-4e59-b334-559b04571489 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:fc76414c-e9fc-4f8d-b8fe-8943681760b5 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ba98f0cb-0108-4bdc-aa09-13b90d9b7bb2 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:eeda147c-f2ec-4c5d-820e-8651c8dcee51 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f4bc6a70-1ccd-4342-a737-553f8cb2ef61 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:586853fd-2c12-4266-8561-81fc4fa481e4 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9b9c4ea5-7bbb-4d24-8b51-83cf41b780be phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:307beade-da11-40fb-bd4a-4260d9867b06 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cb436960-9baf-4756-922f-44a18d5b9948 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:405907c6-4343-4616-824e-a3dbd428ff32 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d0519e56-3fd5-4f94-a8d8-25856d1e8a9b phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:667aeb30-7888-4218-ba87-b6bc6a609246 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:fd354c5b-47b2-4320-9aa3-5986a589a216 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:245d6648-b72c-446a-a439-b967241e3307 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c6dcd0af-db60-4f81-a7ae-78a30000988c phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:09970a59-ce49-41d5-bd3e-e06e0077b328 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ac1cb7e2-fd59-4eec-9708-05e63dacc556 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e7dff5c8-f7e4-491a-aa07-bb52c2694a16 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a8b5859c-90e5-4084-99d7-a7fb4c85f62b phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:263717c8-c43b-4bdf-b136-efcd008db81f phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9e685e51-62da-46e8-a21d-e99103577d01 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:3eda6fec-393e-4f69-8a1b-fbc95ab4cf7c phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:da4890c4-ea9d-4b9b-9aa1-d7b0e2ae766f phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:d4ba5ba0-34b1-455b-83d4-0771fb7b84f8 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:c2fcbbd2-2686-4159-8718-49c8fbbb2f90 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:aec094f8-85f4-43df-bfdd-019542984342 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:a427b486-b7c0-4804-b142-d846bf0c3971 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:7afab432-575f-4add-b97b-e1af469c463c phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:5d2156eb-c4ce-4f1b-be17-3ad70315aa47 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:4bbfba47-ced7-498c-90cc-88d70b69a1b7 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:ac753c14-7f71-4e84-857f-bfae9723c5e1 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:73b0351a-2e02-47a0-92ea-be380a61649c phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:733c478f-0314-4161-a3c2-13188fdc6dc6 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:97777f68-210a-477e-b4f8-b09f6fd35faf phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2be03e37-bdeb-4f2f-8bd2-4189b2727ddd phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6e4cfb16-f062-4d2c-8427-9715e3adb867 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8a9836c3-f8b2-4e43-a461-354934422026 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:5995c79a-6fa7-445b-b78e-8814622200a4 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:87fe0b13-1e92-499e-9933-350a1167bda6 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c501cb31-a8a2-4348-8830-c3fe3a327153 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:099e71ba-5c9b-474a-91c0-001d07aa2776 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:5fb94aa0-c50f-4551-845b-69c6dadf3e69 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:70ff8324-1356-4e0f-93ee-5f4d7390309f phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1511e591-26c7-46cd-80d9-342f1b29d5ab phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:eeef9a73-4ce2-4596-85b6-b118512db975 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:256ae6f9-a5ba-43f6-b434-e3e2c82ce7c1 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a2bb7bed-90e5-451c-87e5-52304d349c64 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2dec5052-8693-4eef-9703-a8c2183f9f21 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:035727d0-6270-44ce-a521-bd73fa8dd073 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:bcd21257-1758-4cfd-b1af-7d255c3276d5 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:62e884bf-b796-46c4-9f99-8aed3327617e phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6faa08c9-1888-4855-8e55-1db6e4553c35 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c6b25e96-6597-4e73-8092-ee56bfc2ce2f phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e4ce8f80-40d8-4ff1-ad37-47b24d1030ce phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9db8b980-4b7f-437c-a633-8ec87d141a6f phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e20bd1c5-c2bf-496a-b05d-22a659e14fd5 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d7349ba8-d860-422a-84cd-1d1be348d329 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b787e39d-b92b-4f5a-9b10-48b52e500666 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cd288df6-f02e-48b8-a964-159ce68695a5 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1569165f-1381-4964-8b52-d74d28e6fff3 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:4f824196-b8ff-405e-99ea-75b38f85c5cf phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:83221b5b-ed41-43e3-bb77-c6218ca232fb phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:38480682 uuid:1c02e57d-1eed-4d7a-ae32-764e6033ab9c phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:38480682 uuid:6a557774-621f-40d1-8a84-fd92cb38dde2 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:1f75fae4-2499-42a0-90a2-8b2cb3e9deff phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:d6bcc3cd-d150-4415-a561-dfd67b21be06 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:68fd8e9f-6e4c-41f5-b5e4-25e401f819b5 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:25f02018-e364-4b66-8f1b-95a42068f9cf phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cdfbd4cc-7c3a-4e8f-a20f-52d0a0a89dc3 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8cb65cae-4cce-48f0-be80-b253e8ae3c07 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:64d26f3c-62b0-41d2-b9ac-2089cd727d27 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c48abeb9-0267-42b2-91ba-e14e57166260 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ade6d173-9e2b-4799-b042-21d722c98df6 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:25ef966e-37cd-4814-97e9-522245e527bc phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0eda7a53-222b-44d3-9f3e-1b4c5f7cbd5d phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:eb9b9c86-3916-4a79-b8ed-7919f62e1c31 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:4f255b06-3853-46a5-b44d-6cdfb71da317 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1dbc8932-4263-4ff4-8d28-1b01934c7835 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8f8cbd60-6f87-46cd-9e1c-22e0f016eb94 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d5b6d08e-4ac4-44c4-92be-fb08df8eeed3 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2b692eb6-5ccc-478e-a129-d7391c99726d phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a07da6f6-6b51-4a76-be25-eb04cfc08517 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:01dcde8a-7d3f-4900-8079-74d93fae99b8 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:caf92a75-bc7c-44fa-b547-46d9a39b4cf0 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a726010f-2d46-44cc-83e2-1bb22e415594 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7a23b896-e42f-46f8-9fb9-35c7d8ee831a phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c8371099-385a-4e57-9425-7ff3b00d9d3e phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:da35959c-d42f-4d29-a887-547f8de66096 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1610d7be-a5ec-4312-af3c-d4e08cea5aae phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a96b8c18-6142-4814-82ca-a45153b771b9 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a3a4e403-7ec0-409c-8db5-57c6caebf08e phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:87cb14b0-ca7e-4723-8253-0daa504df7c2 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:342511c5-8930-488e-973e-34bbe00cf1dd phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:357d7d1c-fbd5-437d-8486-e9f4a952fa26 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7d72c1dc-b6a8-454c-8758-227d13bf9cd0 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:c10a4359-6860-450e-9f61-92c35abe96f4 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:34112f43-69d2-4f1a-a0cd-04f68eb2b9a9 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2d71f400-6fb0-4c43-996f-e00978eaaf76 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7fc4d00d-1887-4e2d-b745-c7d40a69500e phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a4de9521-acc7-466b-b69c-945bac6d2107 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:21d5575a-3b8a-4ee3-b88b-d9f8b50bc416 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:a78bbaf4-a915-45b0-bccc-bcc015d7f13c phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:38480682 uuid:3ed4502e-f543-4aec-bce0-653465dca6f3 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:38480682 uuid:8b789818-ff96-4aea-8754-4189758206f6 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:38480682 uuid:aad3a65f-0a7b-4c3f-bc11-443ceee35ac7 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:38480682 uuid:daf766e0-05df-4830-8354-1c01f7777530 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:97c8ae06-401e-47b1-9dc5-9f918e981bb4 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:e70cb061-55c0-41e2-a975-955e0120ef2b phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:16d04115-e1dc-4cd5-89c6-f02e92dc9449 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:30ddfa81-5287-4024-8e2d-c73a1268a58c phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:fc6177f4-f0ae-4209-96c5-5039d992e47c phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:56e51541-4379-4b0c-898c-7a619edd95e0 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e7990743-7b8a-4d30-b184-70b346777456 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:e11909bd-7c87-4ad7-b2d6-cb6dd7dbcf1e phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cd38845f-5ce3-4b9a-8f51-460c7bb89372 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0c3da5e2-b6a9-4fc2-8747-d66874067fad phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:68402a1b-2a41-4971-9ca8-a844d929f748 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ec457ed6-f837-4eda-ba67-99fc617b3c65 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2cb32298-c47f-4105-bc89-31379f8523ed phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1d6342bf-c22c-4e94-b497-6773e01c0610 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:771b5fd3-6eca-4df1-a033-5f950b4340cd phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:76dfac99-b744-4855-b4f2-1f44dfc9cade phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:4ad12218-7faf-4669-940f-230f7154b679 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:5f28311e-b2c2-4190-bf54-3301ebfc8ec4 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7258a77c-e139-404d-9fe0-eeb3d53d9008 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:60d8a50f-2387-4474-9af8-b04c40644081 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8fbc5f74-d7ce-419b-b587-8eeb00897849 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:87015f3b-1a6a-4c4d-9e21-cbcd513622d8 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ce836ba3-fee6-4415-8afc-3a20824be4cf phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:cb7ddfb5-1397-4567-b321-063dd92c2311 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:57e12a5e-fb99-45f6-bf72-9223708122b2 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:503d7f37-6725-4282-a00e-fd5e744ee19e phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:edc9ea7f-eb65-4117-a6d4-015e1a919dcf phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0f64f8cf-4a9e-4cac-bc68-1ad7fb31492c phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0f589c8d-ebed-406f-88ee-aa381b77a74a phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a30f4a7f-b8ae-47a2-80bd-4262b154df1f phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:75cf34e1-3036-48f0-af24-1d9c983daa0b phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f4df1b44-e158-4921-a146-1d2e80045ade phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:0a2ce382-a861-433f-938b-da3507d64b9e phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:6d45a9c1-fba1-4bc4-aa3f-b0b68a87e3b2 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:38480682 uuid:bcc7c209-12ab-4248-8e83-233281fd1689 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:38480682 uuid:4775386f-7651-4e50-a59f-4ce04053ed74 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:0ead6668-d4be-4a4d-871d-93c131026318 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:90aedad8-2525-4b9e-8397-25374713e2b0 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:a82eb80a-d8f6-4315-ba80-56e6cce9ba3b phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:f6415481-ab90-453f-b49b-e5ff65b2d308 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:edc8e89b-ba1f-41a8-9999-6943fa60cdb7 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:f2884714-1013-471b-be5a-e4602502425d phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ed2a72d2-2eba-4189-abda-23424dc4175d phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:dd8d433b-dae3-46f7-a9c9-275e9ec4983b phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b44f3afc-c4ab-4204-9891-96f8e9281544 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:48abd599-e522-4b31-bf4e-1a21f062d12a phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:612158a5-9fd7-4036-9687-e1b2864787b2 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:1fd534d9-e635-4a09-a389-4af03830a8c0 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:afe4609d-c4ee-4048-89bd-46a021fff35c phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:aa14ff20-67d6-4aa1-b8fd-b2fdfc1885fb phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b604571d-2cba-4537-8403-011e269b1c55 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a1a33351-64d4-49a4-8a61-d0ca1e4a449e phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9abbbbd2-4a76-475d-8221-84064f0714aa phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d9be54ea-5ecd-4855-8c24-fa63f532d849 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b1b48ce7-8638-442b-9897-e779072f3f61 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:39eabbd4-0cfe-43f6-a1f0-a71ebab30f14 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a1b55474-99b5-4b15-9df3-d0f75825dd2f phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:d23d8183-029e-475a-8f62-d56680dafa97 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:92533a6c-78cf-462d-9929-79b7f896c18a phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:af2a2fb1-4b6b-45a3-8f50-839537601565 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:bb0c0f06-63a8-4bb0-a15e-88a63ba3c68b phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2354b5e1-f01d-411e-bd91-483a114f1b55 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2fa735ba-e433-4dfe-8760-fd5ae86df36e phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7af555ef-cd60-4807-8e47-5aad4dd678a5 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:fb7856f5-65df-4be8-90b2-e8445c7f9b97 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:7a846ac7-2ad1-4ca5-b577-66bd6051b517 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9356f0c6-a2e2-4b7f-9dd0-a13f4a4620c6 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a36a98a2-7150-4a9d-a2b5-6c5d7a7c787b phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2075fc61-4580-46a3-8b00-75d1554c3cb9 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:996a6c85-e12b-411a-828c-93687a4d9eeb phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:22370994-b3c6-422b-b04d-3d8136c668e3 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:103f4169-e3b5-4757-a30f-e571672ce404 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:a3cfff59-24a6-4247-9185-30fea8dd69fd phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:dc53a071-92fb-4831-9118-1cc5c27b6283 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:f05cb4b4-6c1f-4f3c-bc74-d4a74496fbec phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0007346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:963b3189-b403-486f-b4f8-dc4e439cd146 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:b89e3c32-2901-4cc0-95df-45e385bbfade phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38480682 uuid:eea897e0-def5-4a26-b656-0923e7127b54 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:965dc52b-5635-4e30-b5bb-3bfebd4d95f3 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ea88313d-215f-4871-a2f1-48f3950b367f phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b8832b4c-6e7e-42f0-8e02-f77bc0d63362 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0007352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:da6acfc5-7330-46cf-854b-34c45d88cbf2 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0031627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:a72932f3-2fce-4b12-a734-3a201bc499da phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0007229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:2616e69a-ca77-4d33-beba-f1d817dfbdc4 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f6ca61c8-fdf7-480a-a8ab-4832fb090169 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:645c7350-cd90-4618-8d9c-62b48ab26240 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ff6e3abb-68c8-4dee-a7da-89d0acd316cd phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:55906994-1965-4700-82ab-41045d793c36 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ef3923f4-42dd-47b8-bfb5-d270cbf64259 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:40ad9788-d4a5-4c57-aaad-889ebd7217d3 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:ea5c2627-b250-4222-b0e9-b570e6c94a71 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:0e7ba3c9-cc0d-4192-b2d7-f092db56e867 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:b04bd77b-dd64-4808-9288-6f376a6b1a1c phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:9d7fda3e-7491-41f7-a8a7-1044e14a627f phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f2ba9d30-d139-45ba-b020-5fbc6d817011 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:009ac507-72eb-4cd3-aaae-e5f74cb25f9d phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:252c9b82-c7f7-45df-b841-dadf19cd6597 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:553175a4-8db3-429a-af25-274b98d464a9 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:3f79ac07-7f93-41d7-906f-d0f65d69bbfb phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:108cad60-6c42-4b2d-a7c5-923b605bc392 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:201d53cc-8edf-4edc-95c6-2999cf8eaa67 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:aa2c4370-5e8d-4b43-8bd1-65bbf6b10605 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:6eae5a76-15b6-400d-a22b-c5fe217d80f1 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:338105b2-c503-45ad-8a54-a903a0c77202 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:269faf68-be1b-45cf-a8fc-b7be80841d52 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:f806c312-c830-45ad-968b-738755b0985f phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:af2ebc95-e3f5-4da5-be22-474c5629ade2 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:465788b5-2536-49c6-91a3-f52dcaeb7344 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0008948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:aa332ffe-a856-4297-9412-acc6bc41a18e phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:8310768d-b83d-4dc0-9983-e689110410d2 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:229fb19c-3fc7-43e5-b670-b7f18884c9cc phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38480682 uuid:80c8572d-3f29-4419-8c31-03e3de54bf55 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_disease OMIM:620786 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:c8e86fb3-eb5a-4861-98ae-df6dcb652a0c phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:has_gene HGNC:25875 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38480682 uuid:2535fe52-ea17-4302-b860-7ae1bb3c0f6b phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:f8e5d617-a942-435d-99ca-259430274544 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:fcf1fbc4-a7fd-464b-9fa9-1ed390f30648 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:cdc475bc-f42f-4677-bc43-f615444ee01c phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:7f65e98b-fda6-44e2-b0c0-bf0c3e25bf20 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:3a930a09-f6a0-4fdf-a8b2-1fd29f9e8e84 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:374c1fec-b9b8-405a-b361-a8f7f1434980 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:8f181f65-c927-4382-8543-c7a20e1c1dc9 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:9533c8d8-9cf2-4796-954a-32c75329f952 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:6635f530-4ee4-4b54-b0fb-4b4e7318933b phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:691a831a-2b2f-4c66-80b0-bfd3b676e338 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0006342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:b40516e0-ea5e-4fef-a22f-0f9ed54d264e phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:9a077e32-626e-418c-a784-caf5d5fa5d5b phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:78097352-e71d-46a7-869f-fc3306d184e5 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:ed844e89-c62b-43e8-8564-8a8d8a6a2d05 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:579c4a01-e1f4-4e31-a6bf-9de1207bac3d phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0025372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:f95bc415-2eba-4f3e-ba06-88d355c9260b phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:d7e04194-f06b-4df8-9894-65af2753cf09 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:e0ab2914-ce9f-473c-9b67-598e5f4c5dee phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:dd737826-7ccc-414b-8889-bffdf1ae1125 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:2d11dc11-89b7-4b3f-93e4-e6c88e0181d8 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:c7da0a94-d3a9-416a-a3da-eacc526f9015 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:68170dea-ff3b-41d4-ac7a-1665b3ad19e5 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:6834b802-d77d-4801-9785-0c56761bd7d7 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:d04634ca-065e-4e62-a1d3-39ee6ff2dd03 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34805998 uuid:e67b1253-f686-4342-80bf-6dcf6f61c7d1 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_disease OMIM:620830 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34805998 uuid:0cdef0e0-4177-4cc7-8973-0880cccec88f phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:has_gene HGNC:30252 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34805998 uuid:a64fd889-e0fd-4713-9096-d363136364fe phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M4D infores:phenopacket-store PMID:34805998 uuid:8e2d47c3-07a8-4b97-9525-a32e23bfe2d9 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:0abc5a69-744d-4c29-a4dc-262420892dbb phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:33e30b9b-e5e9-4c26-bf43-03a20aa07b82 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:41f453f0-44b7-4679-915d-dbb06d6b56c6 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:75831cd2-b24c-452b-a8b3-7b03654c9818 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:cf2a0337-ebb8-4d21-aee6-264eae412ab2 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:032eab2e-19b6-4f34-9c9f-5c141fce1c2e phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:225be60f-3360-4538-85ec-959e79b268f8 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:2555cc52-e97c-48aa-bced-45e40139dff0 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:b0991037-e472-488f-b40b-a936ee8703b6 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:f8507af2-9498-4243-b470-981225c05ccf phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0006342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:794f4612-dbed-4468-952f-2ea95ce46d91 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:9cecd9f3-fbe3-493d-ae7c-a444a991ffbe phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:d7c3b68e-b5b0-43bf-98e8-dde4555b07ca phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:98ddf6bb-ee29-40f1-93c8-ab210ac26df2 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:8400b737-cba7-4ea6-b95d-d9abb5c6b517 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:014452f7-82d1-417b-8d84-7de6feb4dc05 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:9b04704c-ca6e-4c20-81a4-52330b409435 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:d8b3fc88-d596-4894-8e1e-74a55b9cd97f phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:39e62d6a-a43f-425b-ba25-593c36432baf phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:a8d0076c-58c8-4067-b1f0-b2ab5a5f802d phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:7cc8630b-ac2e-454d-a858-6707c187c437 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0025372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:2bf25fda-3b04-4bb4-ada8-89faa2878a5d phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:a1f69443-9893-438b-a048-0d15c735d472 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:8b26677a-b535-46d5-b90b-2e69944b0e43 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34805998 uuid:f86ec8b2-9bac-4f63-ac6d-487e514481ea phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_disease OMIM:620830 biolink:CaseToDiseaseAssociation manual_agent observation P1M4D infores:phenopacket-store PMID:34805998 uuid:f6543ab6-c78f-4b1e-af07-7583cc810753 phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:has_gene HGNC:30252 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34805998 uuid:ecb8b230-e41c-47e7-ba7c-088735fd0442 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4c7c2fcc-01a4-445a-8a5b-01a948fcbd7d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2441d097-130d-41cc-868f-618a87acd077 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2240343a-4c3f-40d2-885a-84eed9e4dcc1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:be8c71c7-a1e8-4e7d-8ccb-eb742736f157 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2fed38da-0df2-4253-a40b-51ae9800eb7a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:b74dfc6a-abe9-4f7c-aaa6-2f7e5c80e0ee phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:f00bbc01-ede3-4bcd-8dbb-2737cdbc1e2d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:51f787dc-6eda-4b46-83f4-0ad0689676e3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:17c55846-0d44-46b4-b6ca-d9b92d83f156 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:88dcd39b-6e13-4a5d-9b68-b2e9e6daddb2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:5b058f43-bbcb-4254-9c45-1e2ecf7d2d4b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4463a89a-51d3-46b7-a7d0-8d1feceb6533 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:77c21403-b27b-45cf-a106-ebbac2c7a18d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1b443e6b-7f16-43a0-b7a8-8ecd1751f8b4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:824d0ab3-919e-4d88-b64a-d16004a381b9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:66fd9085-9970-4ce3-ab1b-30e155a176c2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:051431b8-c74c-484e-87fc-c80f7f5d2ca1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:beab05c6-0a46-47ee-b562-0f52f649e016 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:957de3da-01a3-4af2-9a2f-808aabfccb98 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e1199278-cc49-4a2e-ac91-52e4e683393c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:759b581a-bfad-4595-8144-803f05eda5e6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8806cf91-d4d3-429b-970d-5019d7dceb83 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:04370bff-fdaa-4a90-9f2a-42f7768feb68 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b7ca67b3-31eb-45c6-9844-4260f9e7ac39 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c235e981-783b-4961-a3e0-8ad163abb53f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:733e9b38-5366-4a21-8e12-c9e3be8e242a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:490fb0a6-39e0-45f2-9963-7489734e0db7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3f151401-012b-4e2f-a9af-a922f89a1c27 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:27519c07-2ba7-42f7-a2b4-20e1aa99adb2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:f23664db-9455-4d7b-beb0-69f1d556e822 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:f97507e6-137f-45cb-8afa-946dd316ba96 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:387f1564-7cc3-444d-8f22-2d53f7e76b64 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:b00f909b-ebe4-4b29-9239-a2501040882c phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:afd4828b-7b27-4cbd-ac82-2b9057d64c2d phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:8f2332fd-9be6-44c4-a8ef-c11c7a7a0a6a phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:6873f8be-44ff-4cdd-a9f5-ade0bddda7b4 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:01066829-cf1a-4b4d-a8ad-99d99d0910d5 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:662424d2-fb26-42ee-bad1-fee76060334f phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:820781ce-db1a-47f0-a3b3-99a83b9b039b phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:aa8d04f2-0dba-4e2f-a9be-73dd1f436e85 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:561b33ab-5569-4d25-a6e3-de699b530f82 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:eb387aea-ccd0-408d-8ec6-300fa9328523 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d7cc15d7-d8f9-41b6-b92d-ba6560585370 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:99b84afa-0190-49c9-8588-c3be53902fbd phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d729d429-4366-4091-87cd-ae825223e53e phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:58d8e059-9684-4f7f-8ced-929db67295a0 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:c3343297-0729-410e-8f8b-ac8657d87899 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:783fb06a-fec9-415e-ad2e-db7d5ce4a2f5 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:3ff3ff39-ac27-41b6-999c-d9e724156d20 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e76d4ef4-040a-4f88-9a6f-824155824031 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:26541327 uuid:bc687f2c-95ca-42eb-b008-0e9c793a48e6 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:0803dea6-92b8-437c-9f17-490b7d00ebdf phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:3e9a28b4-98b5-4194-bc20-948e6ac06d8b phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:6aba3762-9970-440c-9270-2b443a7e3af7 phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:9f1794c0-5e3e-4d84-8156-8cadc630df0a phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:9a858e9b-f0ee-482a-bacf-e4278689ccbc phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:ed8db79c-4075-4b6d-a5b2-a074a122f3ca phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:83078282-7db0-45ac-9447-2aa4a9a3d1b7 phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:f6034f80-d81e-4e1b-80ef-162c3212e6ee phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:85175702-4e32-4688-bb4a-88d01d9b4445 phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P7M21D infores:phenopacket-store PMID:28629372 uuid:97fec69d-cead-43b1-b4d0-988d44110523 phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28629372 uuid:196b5aca-c171-409e-bd91-5b81a863fd30 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:c9f3ad09-9acc-480e-a831-f4a1c0f68bb8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:16a8ef17-ac56-4ab0-86f3-4c3721424bca phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:c17f6661-a362-4b94-b11a-3846faeff322 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:cc6a7e98-5f2c-4836-bfe8-80a793f677c7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a1e107ee-cfe7-4ffe-9d3a-fee59f74ea8f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:d3d3e5c5-72ea-4966-aac4-b690f44ec129 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:9742ccad-2d3c-4eb1-baf6-6959f16a1c8c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8933fa7d-8d06-422e-8d5a-9db97a70ff3d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:17e6354b-d3d0-4735-ac81-424facd754fe phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:44f74295-efac-4228-98d2-3f676d267a2f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6fbd240e-8ad3-40d4-84e6-d0055e55d90a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e24e64d8-64b2-4f3c-aa86-7664dd95ce53 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1b101e42-de9e-49ab-bd11-9010bcde256f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e08636ab-bcec-4155-b449-287ce678a586 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f2e3605f-3c6b-4451-ac8b-f0a364360429 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:93d0eea7-977b-4fb4-9639-f1992652106c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:aa975b7e-6f78-4cee-a2b5-148c1b65f904 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:86e58a85-fa0d-4387-b281-d60652fc74b6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:01986d27-3ff5-45ff-ae87-b7aaa1af9552 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8f7817fc-5f40-45ee-b059-9c4fa847f080 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a3dd81b7-a826-47f6-baa6-4de185022ad3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8a44af68-72a6-482a-af6a-a2f6e14a2db6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:482fc7b9-140f-49fa-abe0-a2dada8e374e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1980acf7-673f-4c99-8765-f2a2606a5cf5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1f619240-22dc-4626-b23b-d4c84dfc81f4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4ce0db2c-c6f5-4dc6-9801-6a66b5178b6e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7139140d-1a86-44af-bc8f-a6b52640a6cb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ed36a2fb-4fc2-4a9e-abe3-577159af03ec phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:fcf54eea-bab5-4ffe-baa0-920f0869774c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:c6e38e9e-91c4-4185-9348-e2d05fd020b7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_83 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4f3ca79c-b05c-4539-b8c1-be4f02b7004a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_83 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:61b12761-57f3-42e6-b326-db149c89799c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_83 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:1be39ce8-c383-44dc-82bf-0c19c9612fbe phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_83 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:0669b72f-f758-4cf8-ba6c-7eda5d1fc930 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:9c8de9b0-fe92-4152-a3e9-b7005207b0e3 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:841ff873-a33b-4e34-b0a8-8435da52d7d6 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:cc3cc7d2-ed2f-4810-b840-0e762ba722da phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:fc5d999f-c455-4720-a423-99b636292b81 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:45a6d00d-c72c-4c73-8758-66df651ec217 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:b787cb17-dc6f-4c62-83ac-d276d1cbf622 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:29a33e54-1067-4b66-b97e-6d6989ee555d phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:3f97cd58-ed4b-4f2e-9aab-13e0e7819f84 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:2fc441be-c946-4148-b413-d45b412288a6 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:ae38325e-f56a-4bd3-8aea-b2fda451ba0a phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:2c0d1e16-c37d-4fc3-bc91-0b290aa0693e phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:9b8e9a71-f4ea-4203-8856-f6fdb587a347 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:d84cb75b-0118-47a1-b4d3-6c04c82ec6b5 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:5183f339-42e2-4a2a-81f3-f35dcf6f3629 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:1a5e8eba-0a74-4226-8e00-6b90fc8d3f79 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:cf893f13-c99b-4272-be78-59004773ae22 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:924d2376-c491-4b61-8a56-d99785a7d48f phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:baf2cfe2-2af0-4077-85bb-906e095e2183 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26578240 uuid:98a8dcaa-add8-4e4b-9e7d-f6e9d3192790 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26578240 uuid:f2522772-c92f-4ccb-802a-461619473db2 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26578240 uuid:09605133-54cf-4e14-a3f0-95a7f57eac1e phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26578240 uuid:9f752d88-0f7f-44fd-9a37-697e01f81e84 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26578240 uuid:8adfe13b-4199-4d45-8877-95cd9d91f2de phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2559d775-1c43-42ae-8980-fe8d222c624a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:63206555-bb90-465f-a333-0cc236f353f1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:97e41f40-fedb-4220-aff9-36cfde20f5a5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d004437b-ff32-4591-8dd7-34280ac6d433 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:dccd9f96-9184-4af0-a66d-a4b0511cd915 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:20247e15-dbce-4fd0-b33d-6336992102e9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:650e742a-ee84-47a5-bebe-877294761214 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8eb5209d-bcd8-405d-becf-1d8c6e4a0690 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2d1bd7ee-6476-4d46-a254-be6663250195 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:35d7a684-6c6d-473f-a1b3-f36c94263303 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:68424848-306b-4d8f-ba1c-c18d90907aeb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4103431e-4edc-48dd-8de8-c92cd21b6b7c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e5612c75-3ccc-41b5-a60f-50be1183ec29 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e9d4a8c0-81ba-4e20-af09-ca4f2a6eca31 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3585c387-3476-41d0-af5e-cfc3c35938a5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:308514e7-703f-4351-a3e1-d7b30afcaf72 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e684ed1c-00f6-4ed9-a7ed-5e8322109399 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0fa09fb2-1430-4f2b-b982-6dc2c80fdc0b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6e342cb8-4ce3-4557-8d20-e5c177853594 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bf1bae0d-66ec-45e2-aa9a-c811e3703add phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:effb8618-9182-49d4-b82f-8619f577afe2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:359c2483-ca3a-47c8-a141-ef805b8e1766 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:25ffeb5a-babd-4058-b662-0ebab1dce7bf phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:48938f6e-e908-4e95-b6f1-aaa5ef9b11c2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:23dc5566-eb16-4143-beae-aaf2216f68c4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e90f9484-d1cb-4455-943e-93870b4851b9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2ddc005a-a799-455b-a15d-37504c006727 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:aceb080e-43e5-41b7-83f1-ebd619f93d5d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:0c622ded-9b28-49b0-8e22-57cb97c71827 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:970a85ea-7a50-491a-902f-e4708d7b732c phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:26286438 uuid:2d622c6b-b9c6-426b-87da-fdeb96efd77a phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:26286438 uuid:17190d4e-c102-4b55-aef5-8c2fae1d046d phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:79ce50ac-a547-42d8-b24b-9aee96ccc16b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:4b274565-05a0-4b55-ae70-236f39d219d7 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:c4a95da0-06c9-4020-b7f5-5fe619ea7e2f phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:85f1dc80-dc01-4f24-9ab4-d2efc8e35c3d phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:764d9099-19e1-4d94-944d-caaf320af98c phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:b26f8307-52e2-4535-9ddf-56aed72a47d1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:7aa87944-8882-4d9b-b7b8-881e5c465828 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:676384fc-0b46-48b8-90c5-fd3a9a26addb phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:2ec9715d-7825-4398-8f9c-207a782e1428 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:a01a4b6c-3f31-4a83-84d5-be3ce28af5be phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:5eaa55fb-8291-494c-b400-8af1635a99ab phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:af9599a5-5316-42bc-835c-8351d72ca96a phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:5f6e370e-4514-4235-b3aa-97447aa9958e phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:c45fa620-5d1a-4f64-873a-750b660487b9 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:3bd6d06e-dd7b-4c0f-9c22-b638de98114f phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:18aaaa7b-bc9a-4e4a-96ab-82e807f1b77a phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:36dd0ccd-309c-430d-bfdf-d9615940e910 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:9f1c507e-0fe4-4669-9248-22983b39dedf phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0012219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:e88e1f55-2fbc-4061-b9d0-a01a50ad07c7 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:04ffed50-3387-47ae-a61c-8b3dca96fb23 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ea9c5457-aa6d-46b6-a1da-ca86e97ca835 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ac55e890-59e9-4477-b484-adffb13eb81b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:e3d97a9f-99b9-4239-ae37-a2612a95b3a4 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:a628dc56-d731-43f1-91fb-31d301cee55b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:5706b8c3-8b50-47dd-ba7b-ea304c212f99 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0032140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:97d19d11-b060-4678-9a42-5213e3a2e699 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:e8ec874e-5aa5-4a08-a49e-523e8b3de7f7 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:87ab02ca-333f-4f3e-aef8-0e2c3ab5dde1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:44f21e08-5f4d-4cf5-a9f2-8ad41b07ea11 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:07b27d0e-05bd-4e66-8365-ffc8de93bc9b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:603ce962-5478-44e1-9257-34bdb370241c phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c2cf2ca1-93c5-4515-8e3d-0651944be336 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:99e38a3f-8013-4958-9cbe-7f4321035ce1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:15945c0c-444e-4e25-a8ed-9808f047c6f1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:4411fee7-446c-45be-ac65-073352be6632 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:77a61d2f-0c3f-4b71-aab1-357c3239c543 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:0fa9fdbb-13bc-4c76-8e03-f44463f785a1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:9a85f303-885f-4c29-be05-fa4cb075ba32 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c6b1ef8e-a028-4fe4-a0d5-a21cc52349df phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:b3253117-fcda-464f-9bf0-9d458304e5c5 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:a7eeefed-0aaf-48b3-9f16-281f90dd4c4f phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:39819e98-efe3-4f71-8dd6-8bdaed8917b2 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0010584 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c7154017-0374-4b15-9a89-78e7a71770cb phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:3a8d94bf-a920-44e5-88e8-d24d60ac4c8c phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:d836198a-f57c-4a3e-93be-ca1ef16762df phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0006480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:af063e9f-007a-4812-a85b-adaf5a35bcb0 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:fe7545d7-1638-4155-a17d-1b8e0d4e32b1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0200000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:eeee4d72-6ec4-42bb-bfee-80cd280b5238 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0034281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:5ddc4d6a-ca9f-4444-980e-0e3bde8db74b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:229c8e55-f9ed-4727-bf7d-baacce5d7eb2 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:11843be6-3bf5-4095-8a36-3a0c7ca54d81 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:bb191564-fb26-4702-9dc7-a32f81c84b1b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:7738382b-7a2a-4da9-9dd1-3a66332b0654 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:6fbcda61-0b3f-40b7-95b5-e22ae970ed7c phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:f21a71c3-ed80-4fa9-adf3-0e58b9c9bd72 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ea2d71f1-b72b-40d4-b41c-37540cca5c03 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:461bf4ba-fab0-4246-8a75-75f4a7d49c74 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:5c4dbc57-bd05-4cd8-b728-7e5dfe53fb65 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:cff53a11-feff-4054-902a-8ac228467956 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:106b639e-d597-4d26-8b95-d123804eae5e phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:8ce57b8f-1ef9-4bcf-bae4-94a5eff02c74 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002983 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:88a9aa39-1e80-4cf1-8520-1c083b028de0 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:92096105-8cfd-4cdb-bdac-2e2c26d55b3b phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:0d9aa07e-e5c4-4f8c-95e9-97345931260c phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:eca8363d-63ef-46fc-af21-b795542c1a75 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:16171095-d260-42ca-9dc0-454befa9e629 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0003401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:1c988544-2874-45fd-a6a2-f763c906eba2 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:5307f54c-0b98-4328-b6a9-5d107372afa5 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:83487827-3173-4f10-aaf7-78926b14f78e phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:6c6a6c4d-9911-40ea-b225-92977cb93dc1 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:63c71266-fba3-4e9f-b47b-f6e40e84e211 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_phenotype HP:0002677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:30a0c1b5-53ab-4ee1-bade-af4809204784 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26286438 uuid:97ec0b8c-408d-4c13-b200-13fb43923480 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26286438 uuid:b48d1d44-84fe-4873-bfb8-0f4e2d690d1b phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28410752 uuid:98ee776c-4281-42d3-ad3c-ab7e9ebcd39f phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28410752 uuid:8ecd470f-41e6-4cca-b672-0b76f44444da phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:da346b5e-f7e6-4e20-a4b6-04c29e600ed3 phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:71ac7abb-52d2-4a03-bbca-4170438743e7 phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:24727104-2fa2-40c2-870b-452dd4d099ea phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:a62be1d2-4cf8-4b5d-ad58-85ec9fc6ff3d phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:e121bbdd-1151-438f-bbb1-deeef156761c phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:52d346e3-84d0-4183-9d14-f87cee858085 phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28410752 uuid:b7d425e7-c795-4028-91c0-2bbfcd10557b phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28410752 uuid:18c58e99-31dd-43ff-9a3b-fd8e83af49cd phenopacket.store:NBAS.PMID_28410752_nan biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28410752 uuid:220378de-f7c1-4892-9c31-22927a5b079b phenopacket.store:NBAS.PMID_28410752_nan biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28410752 uuid:96cfbca0-7c82-443c-82d7-c1dc103f353a phenopacket.store:NBAS.PMID_28410752_nan biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28410752 uuid:75acebfd-04e5-4410-ba6b-a9882210a062 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4f6b89ba-e0da-40e7-8d76-5a5ba3f9c0ed phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:3c40c246-2a60-4470-8d02-1a77e4b58e7b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:33c07d02-f355-4b0b-bb06-1724896734dd phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:946d0223-a568-4fac-b8bc-2720ffb26f95 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8fef48c9-ce95-43c3-9302-ab2bb0a98acd phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:dde92a9b-efcb-46d1-8db0-181f046d574e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:0d9711ca-09b8-482f-856f-d3db45487692 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:c981e033-7932-4d05-b634-9c5b3a46ef2e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:ef840d0c-aefb-4d49-8637-a7c0ab7c0ed7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:61368b5c-680e-4603-bf4a-c363f4ecfb90 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fa852057-8b4c-4c08-8e6a-fb8387cf1337 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b401c5dc-0b6a-4fb5-ba6f-1ea4db9b20d5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:164d2bd3-a2b0-49b9-a678-88dbad661864 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a90175b0-6fdb-4405-a1ad-c0f2ae5e792c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3cd185d0-85a4-4f2b-94e5-72ebff393d4b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:cb9d5cbe-ac8f-43d2-864b-eade0844d4ef phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4c243bad-e1a1-4854-80a1-52e29d7c7640 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e21341dc-5b1e-4f2d-b646-c09c3b126abd phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2be7effb-2717-44d7-84e5-f3d33e5927ba phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d65fcd10-697b-4f3b-807b-512c6b536222 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:354d1d5e-18d4-4b05-9230-f49fa229c0a6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8893c156-3c50-4c93-947a-57e2f862620f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fc036165-9bc6-4f5f-9e7a-999f6e455945 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:dc676f52-0bcd-4b61-97a1-fa7101b3f091 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4d786ee4-229a-4130-8570-7b9b3493ed7f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:66691a30-49f1-43e5-bfe6-f3edc5be025d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:77256318-2921-4b42-bda3-81621ea26acb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:ed5d59a1-1cc9-4aea-8c68-d31d258d4ad6 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2c9daed9-e404-4b2b-8e99-a7bd8ecdf838 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:53fdbc42-37d2-4f59-a8bb-c0e73ffd2c8b phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:af59cc1a-7a8c-43f2-91ba-26e550c58365 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:acb1b1e2-647c-44a8-9db9-f9db1ceb1b05 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a0da953a-c2ea-4bc7-b58e-833f696e9c2c phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:e7c46447-e536-4886-890c-1dc2b201e2b9 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:c621ca5e-358c-4543-83dd-46600f33fc4d phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:b12980d7-35b2-4cd0-abd0-06cded97d2ef phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a37172c3-e56e-451c-8b5d-d1b298135468 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:14244ecf-6d42-403c-8eff-6453e045e8db phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:f98e8b45-d005-4306-8f91-b181a04521d1 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:e0408d4a-e01b-4988-b072-d26c762aae3b phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:bace83ee-37bb-41e9-ad35-d38f6bc4993c phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0011927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:ad2975da-c625-471f-9bbc-2efeaf0449a5 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:02d01df7-1988-4b5a-9cca-717bb565869f phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:b5a95b1f-0333-47cc-9a67-c56f44e85b3c phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:5a610577-6d97-4f21-bac7-20e33903f7f7 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:0f8b3e03-fece-46da-9414-b7677307c386 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:7d6509a7-7a24-4461-b33b-54bb468564f7 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:993180f7-3098-44e6-bbb9-f17210872eac phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:8343d4ee-a7fe-4aa9-b48f-4efd85a0c364 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:35583cf9-a9ed-4eb6-aa23-38223bdf0845 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y9M infores:phenopacket-store PMID:26541327 uuid:b3b67d8c-ea04-4dcd-a3db-74843790d421 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:9151170d-5474-497e-81ca-532e7bdc4134 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:286dea40-0d22-4b21-acf6-aa24369f7013 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:08e70b60-9c0b-4f62-b9c0-8228500f498c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:95276144-127d-45b8-935d-72311570a044 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a970015e-50bd-48db-bee2-679661ff7d7f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ed89820f-baca-4ee7-ac39-e6e6f977a0e2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d5c65e85-07e1-44f3-a9c5-22fb554a1480 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:82c83c05-8897-4b62-9bf5-bbe49a706396 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:18f83c85-b3b9-48f8-9015-a62a585c303b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1b25e652-bfd6-4cf0-9e7c-bf59097d7260 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e9fbb45d-8e57-41d2-803b-b4a3b2c18841 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:dc8f7cb0-67d3-403c-ac0f-0cedf210de11 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1da6ba86-f89c-4d4c-933d-16bca879b9ad phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:94179a7e-ca73-454b-be6a-a1a614726699 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4c3b0491-2024-440c-9e0c-8c80848c095a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7eeca1fb-a67f-43d5-b605-7baa55ebd11b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:61dda71a-47d0-429d-ab61-c06f42cbac40 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:48c66c71-29f0-4d56-9ca7-77dac42e0102 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a98539b8-d757-41d1-a77f-fee9e825753d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:eae1d373-6344-4617-b1d4-43ae73b98120 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e1d13670-7184-4edf-ba78-6975bd4de466 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:102bf374-4235-4606-9b5d-6c7dcf62ceb1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:83d54721-077b-4106-867b-3e43fd071e77 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fec2deaf-19b8-42dd-a965-60acbb665fda phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:041c0a10-14d0-4713-8bd7-d1ff2fd1fc7e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:70f2da96-0a0f-4b2e-b03c-7abf9f9b885b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ec4c76cb-bcea-4a34-8191-e22361576365 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:33f21aa5-1b61-45fe-a0d8-fa66960d88e1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f336e8b9-fb36-48ce-bd37-d5b33f6bbc07 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:be0ee75b-65a0-4923-a219-778e08743189 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:0422eaae-f321-4938-83b7-5122a79553ad phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M14D infores:phenopacket-store PMID:26286438 uuid:6a51ca6d-9301-426c-9b00-5b24a577f375 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26286438 uuid:81bff5c7-2590-4faf-ae84-0d5ccb604235 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:11f8b2c3-cfcf-43fe-9f43-7c2ca788991b phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0010584 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26286438 uuid:ced60f1f-e10a-4be6-9df2-3f87419af663 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26286438 uuid:7a539979-c897-4e85-8c33-9560db3781c9 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:90cedec8-2307-4adb-9c00-badca0b6fe34 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:bf0b806a-0bee-496a-a84b-bd029f3d18bd phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0032140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:7b7551c5-b47d-4dab-8dd8-ebf4f463efc2 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:01c7d9ad-ae51-4298-bc70-903cfc2124fd phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:e85992e2-faa2-4e2f-977c-8596593b02b0 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:31e9f20a-1b96-4cb1-9331-873e97e1031d phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:00a5c641-cd6e-48a8-81b7-4bd4cf29b03e phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:18f55233-a678-4cc2-b779-eef91e0631f1 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:e3761707-9cbb-409b-81bd-b12f2e042770 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:53239d2f-b5e4-416e-b0de-264daf2e0086 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:2f4fd9a3-9a80-4573-8664-f9604c82e2f5 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:663d4c7e-2ca9-4117-a8d7-5d2dde18eac6 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:b5ea8747-3e79-4f1a-b3b9-66c7b114eaff phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:f8ab7c8c-ad1b-4cfd-b566-050d2b7c3045 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:cb379df5-d982-4c6d-9194-c477e3054870 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:5db2ba66-9c7e-486a-93e1-1f32e313b0ff phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0200000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:30a444aa-0e4f-4ade-8882-5c70acc04f23 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:b4987557-5210-43d6-bd00-81b302b387a4 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0003401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:f6b64b02-7d63-4a72-8c1c-794931d26c88 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26286438 uuid:981a3bc5-1c4e-464e-bbf0-e7d3526aeaaf phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:7d1e178e-fb6a-4d6d-8c2b-7a88f7223bda phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0012219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c6dd3928-582c-43b9-981c-18a53465758f phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:f68bd4c2-1277-4b38-a593-7bf1ae1466f2 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:52ee6366-ca7d-4580-9f27-435f38dd03ff phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:d765f161-b6f0-4bff-aabe-6e244e5962de phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:84042917-120c-405a-965f-66a5b9f0931f phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:5214b232-d67b-408a-b6b0-b5e8a1f344f8 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:551ff12f-00f4-45ce-8d1d-c8a2b7f91fd0 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:012d5166-0a2e-46d1-a826-56d94791e1a9 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:03a1d0b9-085d-4227-9e52-299235996b2e phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:cab1e801-5427-4176-9aa8-6ac87eec23b9 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:fd52575c-0a35-4e82-b8d9-8cd3e6fa4547 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:8613d05d-2ea0-4009-8f0d-33c683811041 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:6de1e17e-4b8a-45db-aefb-23c16bf7cae0 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:5366faec-c978-4f70-b150-5263b54a4240 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:93f45dae-1c66-483e-88ba-2918a83fc0b9 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:92bf45b9-d43e-4417-9644-c630f8344a42 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:367a0d09-a853-454e-ae1b-2236929d89de phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ff2d270c-5f2f-4ed6-8424-3e70ffc2cdd7 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c5addaba-aa90-4891-b435-dcfce36f9862 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:6287110b-326d-4996-a987-3d25b106b606 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:68c4fca9-0baf-4575-b7fb-749f11c9e5ed phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0006480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:47889139-a52c-456d-b464-c57482c14611 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:e107ec9a-9896-4df0-817f-8e5d98eddb38 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:019b04e6-4ea9-4d2e-b9b0-d4e1faa5bde4 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0034281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:3743bc31-83f2-4ce8-970d-b94cc3c92b02 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:d49cd75b-510a-40a6-8401-f18c286a6780 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:0333c630-1fe5-4c7b-b535-054df0dd8ceb phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:69b50e22-df64-4703-8ba1-1843177d9684 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:72a7a188-eb9c-4530-b8e5-5f79c5b3f7e0 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c5d300d5-5d6a-4658-a3d2-f334009d6f1a phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:fca62849-e131-49ff-8d4e-d488374f541d phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:b44d6f42-7322-4d48-839c-c213821d1451 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:81fd3d3d-92d7-4ff4-972c-c42db3e3e20e phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c5fb36b0-7b16-4a20-aa30-1ea6ba97495a phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:1fb52dff-3972-4fcb-aa90-79c992830ee3 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:da40e11e-1c7f-4f5c-ac9d-1bb79c861e06 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ae0407dd-9e82-4bca-adc0-bcd757755b69 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ab1f33d3-9902-41cc-b9b8-180626e6b1e7 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002983 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:ae81f92f-53cd-49e5-9da8-aeade4f8a318 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:220c9832-de33-4c59-b3de-89bdb39fe627 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:75d0f9f6-46d4-4681-9969-5938632d7074 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:2b134d74-d80c-42ef-a3aa-3b6bd6ce5ef7 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c54f7d0e-1029-4ad3-9bbe-0a5506b19bde phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:172ea5b5-0cdf-4386-843b-8098ce9a8a5f phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:62c89ad6-733b-4ee6-b106-d741605db239 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:e09ceb58-dfa1-44a4-9215-8f4eee98850a phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0002677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:c7b7bd68-3c51-4122-b3ab-c2f934a424a5 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:db7e8a78-0cfb-4b77-a427-5d105cd73cf0 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:d2194bb8-bc41-410e-a681-aae20ceb7928 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:61a4e230-57a0-4a56-a344-0b22bff85ef8 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26286438 uuid:2083c5b9-3026-421b-87e2-1181c18406e4 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P4M14D infores:phenopacket-store PMID:26286438 uuid:37640370-c6ce-4c2f-bac9-c5c11d1b6765 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26286438 uuid:3d4f545f-61aa-4e6b-9faa-61d34630cf7a phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4ef3f15e-ead6-4ad0-bbae-428017ec1b98 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9b4425b3-4a67-4a73-ade7-014081037d0b phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:91470563-35b7-41be-8548-89a3cd29c881 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:82a0c94e-440e-4c24-bd59-a4cda9c4a616 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:cf1b9c96-9d8c-45c2-99ae-ef6f33062d69 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:16e687fe-27d5-460b-99b4-32be9119f849 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:e747a00b-8c05-4007-b4b7-ff67f3d8d415 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:86a628b7-db2c-46ba-84b7-b8b3d3ebdcee phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2a73ba5c-f500-4754-8a52-f6c280f99ed2 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:c29ddcaf-bf0f-465c-bf6b-bba7d14772cb phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:26780c7f-f7ce-494a-8779-9ccda955ead6 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d6a5c243-7d17-4dea-84e4-21423d129638 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9d1b7c22-e57f-45b7-833e-fedffe9c8851 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:6fe54832-079c-4043-97d6-2c1e520c66f4 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:40004b3e-0839-4216-93e3-f3c245c4dfe2 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:7f1d2e38-c16e-4de4-8ed6-8030bf9fb6d3 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:c97f866a-df9d-44e6-90c4-e195ce8fe97a phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:82f50eb4-ed13-412a-b7c9-98564e25ee32 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:a1b5c4ec-4434-4f09-811a-f98013268897 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:26541327 uuid:056381ab-409e-4f0a-9966-a81d9e7e26b0 phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:3f0b8feb-8d46-4d5c-809e-7fc32e6be79d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e47032e9-aa52-4444-b4e8-8a77f1acb750 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1d4b400a-40b5-45d7-b2d7-b6c6829c543b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ddf22d35-e127-44ac-9ae9-2bcc67989f86 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a436263f-c086-40aa-b7cb-3bdc9da928c5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:399dba52-f231-4ba1-8633-0c9a77fa96e7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a4b2dc83-9feb-4e8c-821e-f1c1e7a72425 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:72799b77-b8d2-44a4-8c07-b62dee3d0823 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4120d997-181d-4b77-8ee9-c6fc3596383e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c3b1c629-f521-4437-9344-9bdcca10e9f4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:904cdbc4-0792-428e-a183-e5661de8232a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8fca5403-2667-4548-a574-9d7324c4e41a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6bd477b7-095e-46f1-a986-ebd610ab6a1f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1abce962-06ca-4c03-a9c6-b883b8a86db1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:921b4779-1222-4dfd-ad87-6fbbf89cf0b8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c3324e8d-4cbc-420d-9d53-b7fd10f35991 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:df5eee71-fd3f-4997-ad1c-0ba56e74e6ec phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6196de22-cabb-4904-8d57-afad8c6e76a9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:57671ba4-3200-4f97-b5af-37d510129d44 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6071baec-05e7-4b52-9ea1-3dd45b58603f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f8cb098c-944a-463d-8e5f-a2a81015ba62 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8cd0b553-f143-4f8d-a1dc-8778265d40be phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e88ff304-a1ad-446a-9802-eee496dd2568 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6060df57-bc70-42aa-9a9d-14df5ce690ea phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:831e0aee-0a0b-429b-a773-273833cf4775 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fd973358-ac63-46d8-a85e-21b6b04a6978 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:04922179-0086-4f18-8100-09cdd932afe1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7c9167a1-7bdc-4c2f-b5fb-27d61fcbd84d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:42397f29-9664-4087-8977-687590e7589b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:d772a829-b1f9-4460-be00-c190c8bebc1d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:50c0f94c-020a-4164-b49d-10895be63840 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:06248b44-590f-4313-9c76-59f2ad879e99 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:22827671-bff0-4f6c-8c14-627f90b84678 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:532d62d9-90b2-4e35-8b40-1f8044792409 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:49128be3-0c8e-4e09-9a3b-c1096ecb7a38 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:34fcf935-cdba-4b66-8aaa-860a9e2f94c4 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:64752222-e9f8-40ca-a51d-a0086a780661 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:abbad51d-6391-42cc-9257-ee2bdef071ef phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:365ca275-6474-48bf-b970-f25993a6e2ef phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:92eb8788-9093-4884-94d3-e60d64fa0e8f phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:e21441a1-ecdd-406b-ae5d-363a1a801fb1 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:ecee8706-21b2-456f-bf1f-0ff503ab09a1 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0002680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:676bd03b-cf14-4fd5-ac45-ac0276537330 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:6366436d-55a6-4c52-9ce2-dc7d19fcab5c phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0011927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:cd9f5d05-0a7b-4703-9a18-736fdc58172b phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:51dc64ff-d8df-446e-a313-870148bd2d83 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:b73a39c3-b21a-4a5d-8f32-0197f4970a48 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28425089 uuid:3b910896-6575-4da4-911c-1d57690d06d4 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28425089 uuid:7f5d0c14-7804-4370-9653-d7ed0046b587 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28425089 uuid:9d35b179-a465-498b-a100-917da376afc1 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28425089 uuid:0fd44a53-b936-4f4a-88c3-d2e0b397eb82 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:6ce75156-3dfd-4971-9db2-3f2ab5253f8d phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:ce5b952b-8641-442f-ba60-a21bc4b30c63 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:55ff1989-b8f6-4e1e-aaea-a315a47fe4fa phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:ae166c6b-b768-4b24-9a45-742bdcd73681 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:f606f6b5-f1a5-4801-b29b-5436697f860f phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:702b00a1-0aa4-4b88-91ba-00790423fe71 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:a074863f-1f62-48e7-ba0b-3d25355405d9 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:2308c6cf-50a6-4c7b-acd6-c7c58bedea89 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e05bec40-fe2a-4e08-9798-1a0a7865476c phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:070dc8c0-949b-4ebe-9086-94371514f31c phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:9aa8b977-5586-479a-a3e1-662790039664 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:26541327 uuid:2ab783bf-4ee1-4dde-a874-9bb015b87521 phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:8ad2b879-1e28-4424-8035-a4c0aa95b06d phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:31015584 uuid:7063ee5c-c94a-4ae4-ad9d-8cff035c86ce phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:31015584 uuid:c19953d8-db45-43ba-bab2-40441b4235fd phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:31015584 uuid:e9dc1dcd-03b8-463f-bc86-636986b3eedc phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:33a3c432-c29c-4b26-89eb-e328345897fb phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:aa16ce4b-5a90-4d51-8f0c-adc7604bd029 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:aa1bc157-2d07-4094-a35c-db75b30e6760 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:d3d69d4a-ebdf-4848-97bd-6976ab5bcd2b phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:90b6cddd-bf8c-43be-9735-3798a1bdb2ff phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:43ffe669-fd54-4a41-85d7-0c08d929757b phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:6fb5ec61-cb2a-44f1-a30e-88aa4ad53ca2 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:e423dbcb-9964-457b-86d2-6d342626d7c3 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:31015584 uuid:c5b5ede7-ea70-40f4-b3b5-be499a1cbe75 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:4d8ab522-ce94-46a7-9169-0f4946b1718c phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:bf1bbaa1-2491-4c3a-8bec-60eed322ce00 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:32e37b7b-078f-4edb-b10c-bfc918ecdc83 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:ddd4129b-af8d-4a76-b379-7c1658e38ca9 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:5b09fad3-b55f-4067-b070-13e97f1d4085 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:8a997d69-5359-427a-9b4d-efae4fdb99d4 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:7f949c84-9578-43e2-b86c-c48e4af4382b phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:bd02700f-710f-4f1f-87a8-7e25009e819d phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:ec9aef41-1dbe-4115-9f2a-70b4f5d27a4f phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:6e51cf63-482e-484e-afe8-d57037f82509 phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:dad44803-a7f6-4575-ade2-3c00884edc8a phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:31015584 uuid:c438950d-6fe8-4f74-8ba3-b432084df14c phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31015584 uuid:154cd1dd-0b00-40b8-b60b-e255c73793e6 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:4b19a90f-5de0-409c-9663-166261dd3c95 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:82259fe0-ea4c-4e46-ad67-a3dcd68197b1 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:6be9b6e7-6a7b-4d9d-a15f-7b3a9048c26d phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:1bc1b20a-7277-4f51-9ae9-17abb86e72cd phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:9981edbc-e44b-4cfc-92c6-8b147bf68bf7 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:c17695e6-3c75-4bc6-b7c4-552bd8360cd7 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:30a5aae1-de09-43df-a840-7e58ad7ca74c phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:bd966c39-e07e-4c93-afae-952d035e381e phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:8e2488cd-7c07-4595-843e-d8a879c8e879 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:e51777d7-b433-4414-8466-447e93a68c2d phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:35de2c14-ee74-4390-bb1f-dd965f777510 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:6d27bc6e-a5e3-471e-aa49-138fa03f0b8e phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:318e2b5b-a2a4-48d5-b771-8ab29ac1ac40 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:a89cb8d5-62f0-4724-875b-a949f6015afc phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:66ddbdc7-56fb-42f9-be1b-af222c5eafe7 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:532e5053-97cb-4594-90e1-99885ccb5a56 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:24d9348b-5469-4768-a693-2ad726b39afc phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:161ccd1b-c612-48b2-80c8-fb278db3396b phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26578240 uuid:80a98892-4e05-4822-afcc-b7dc00d433a6 phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26578240 uuid:2bb3649a-4b2f-4a12-98e1-a8f9d77a5ddc phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26578240 uuid:dad82d52-9bc5-459a-8b59-44b2606392c1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a043c463-8c82-4241-9a86-82644349fc70 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:13bca900-55cf-41b1-a704-90682c145636 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a4c434ef-1c77-4ce7-9dd1-5f4b9c27ca8e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:53556d93-5a24-4567-a09a-5dbc168e4be3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:b621fc8e-1844-43e7-9978-0af450e5e4ce phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2d9f04fb-5b64-48c6-bd6e-f62a49e3446c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e497d6b1-afac-42b5-9736-12380dca8152 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a92da27a-ae54-4a13-a260-6346fcfdc3d1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:9777de67-6149-4460-9fee-0ec5b6c7a298 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:b13053ae-45fd-4178-aaa0-421597de2b21 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b91b7df3-d9aa-45d1-9427-883a1499e059 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:cfc98f1e-38e9-495e-b023-679266a0ca23 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:54b326ae-c2f2-42f7-aa66-5d30b1354438 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bed1496d-67eb-4ce6-8d1e-862b7023bdbe phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d8bccc0b-b98d-4959-8460-de88b24f37eb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:82101c9d-f9e9-4dad-8cc4-6df15887dbc4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f7710587-7ac9-4fc1-b1d8-9fc7cd50b997 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:18db46e5-eda5-4eaa-a13d-b7dd49f36d68 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a5661573-b356-4150-9cc5-062cd21b10d9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:50d94554-a8d9-468e-a82b-086a515e851e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8732151d-fbf5-44de-9187-0339a70bb72e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3f1383ee-33ba-4ca2-a88f-3aad20bb83d4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:52882c86-940b-45eb-8c87-6b9c0566f9cb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:50e7991c-904f-4837-827d-698d3605b057 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f153617b-d4f6-4f5d-bbbd-dd1cd1adae7e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:30efc531-46ec-4192-b883-dcb5d86360e7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0d4a87b7-7c50-4ead-ac46-1c2fbc88d47e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e02575ee-c4f4-40bc-8e93-996c60554730 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:8c19dbca-fa16-4f16-8149-c7d7f696e32f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:cf65e785-f91e-44c0-bab7-cd35548bdbcb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:51982c89-59b7-4849-b80c-79825103cbdb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:ff6c3b57-0eb6-4348-bb5b-561e65110e67 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e2152f4c-fc69-4be4-8416-5d234ebee01d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:41aa46d3-7b7c-4882-8b10-6900eedfae6b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f091c8a7-96bc-4add-9d3a-39e3649251f1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7fa11451-0953-46d9-8d08-0a2311aa3f55 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:21c1b669-009f-4837-adbe-d213dc69afa7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ca1b4624-6c96-4e91-b444-ed04d262860c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2f2132a2-0251-4a6c-93c7-22f3af137d79 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f7cc5369-8a52-4f47-94c6-26e5a40e42af phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8ac1f180-8f8b-4d5c-87da-40af93071cee phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:da2e3756-7b18-4316-830b-9d201869d382 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c0b0603a-bc3e-4528-92fa-0ebcafc851bf phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:66615f88-c06a-4ca1-a8c9-5267f57fe849 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e89abf2a-49bd-411d-b369-0bbdcb6c53ad phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e8f80ac7-6951-43c4-bdf2-29ae450b1999 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5c377173-3841-4d4d-8082-8b4734130d22 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:262aef21-4112-4cd8-b4ae-0a2dde3d9ade phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c31f90c4-eeb5-41e5-a6b8-cae0f2192686 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7bb369f9-9c44-4ecd-b14f-43da9376b3db phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:686cbf36-c798-48ae-b03e-239c804c61ab phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d89b2058-3b31-458a-8777-04a16bb807c6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:020d61b0-33c7-4520-be52-1781f1bfcb93 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:38121c68-6ac2-452a-94db-6b963cd14314 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b157ebd8-ce14-452f-aea0-c8e5cbe175a8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a3754ceb-218a-4178-820d-3c435159dfdb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bc849452-c722-4242-a730-09b3b61c7cdc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:23c661ea-1d6a-435f-b9b0-b21c89b2e2c3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:4ba9f3bd-96d6-46f1-a8e3-660489d2ce26 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:757783d0-9ad5-4e12-94e6-7ac71ae985bd phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2ef7124e-3dd2-4533-8d19-8538f702e969 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:9bd27902-948b-4f82-b326-e7c3c699fed5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:7fded983-8581-438c-b9ca-1a3a4147b3a2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:ea261265-ab4c-48cd-a4d7-b06f5c1d4b1f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2b308bc4-7fcf-413c-abba-5f8244534f4e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:772563bc-a33c-4a00-9f88-8e7a15f2104d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:97f1996c-a6c9-4993-9e08-f8df3b54c105 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:95a3861f-55d7-4ace-935f-2969b3608b2f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f0e81c5a-b2f8-4327-b33d-1719ec2f1fd1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3e7029e4-a33d-4d9b-9216-e86af35a30b5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:65764b38-a08f-419c-a095-fa48a226f4e5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b9c9d89e-67da-4de4-b3ed-73690fbe4ff7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6c59bc06-351b-47d9-8f51-9a38b095bc30 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:acb49201-b829-47e5-ad06-b60b0a86f638 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e3a56570-2954-42e8-9ee2-1dcb5c4fb155 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fcf6e1ae-2acc-4a73-914a-97040a04c5af phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4b6334b5-869e-48d5-98d2-10ee90deebf7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f120285e-15ad-4592-86d0-749a73350f93 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:70b0c6b6-a406-4068-a89d-44809cf08031 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:38e195cc-b6d6-43bf-b860-61a6e8d9f3b4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:768f0fed-8fad-4acc-9812-ed6dc1b15b25 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:eea2fcba-0f66-4cc0-8b9a-25205db79081 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d3654c5c-687f-4d61-b65b-0acf3329e2b7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5c5f9c2c-c38f-4f41-8612-61cd3d2ce991 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:81c075f5-0fd1-4683-a9ac-11694559c153 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e2e4ef66-6a51-4cf6-9d09-c95f31d2d2eb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f1127d81-dfc8-4c7f-a3ca-87dfa01750f0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:125754a5-257c-4567-b908-51c9e839ec43 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:9f09e03d-e887-41d6-a7dc-1f29bf585454 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2f99844e-35fc-485a-a770-540bf1f4d13f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:aa5b9c91-a66c-4024-aa13-addec0e8f76a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:68754822-02b5-4b6b-bb3d-b4eb5fc7dc38 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8f6c3f4f-356d-4d56-946b-4955ade274be phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:54dcface-a43e-4edc-b148-00462e8b5cb5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6bd2050f-280f-4179-9fd6-06e7b8663441 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a52fe944-fcb1-4817-8076-6d2db46d7c59 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:9ca07490-ad5c-464b-95d1-b4acef0b2db2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ba16ca25-0dca-4a73-bd3b-6db17a9a2bf6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:06c33b2a-0cd5-453c-a17e-1e2aa0c49650 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8e448a47-b496-47d5-b957-8471c547acbc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:52530f41-c9c0-4af1-9d2c-d9887a7318e5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:29c7fc26-1549-40ea-882a-3aae29c511a1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8aba1b86-30f0-4baa-9314-7443a6fe84b1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:83d1322f-7489-4d7e-8851-db622fb7a0ce phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:db9bef26-c966-4002-977a-21de9b6402e9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3e0c3194-edd4-4b7a-8ae7-b18ee8c9796d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:02217542-c2b1-493b-b967-c27ad982690a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:31b8372f-3ef2-482a-a6c5-b549690c0672 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:33d8fd0f-8c09-454d-a544-0e1015566862 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7f482f3c-ea7f-4d71-af18-06126d3806ad phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b2cc8e12-c083-48fd-948a-c0ac89b606d3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:efa7d07c-729b-4e56-99c5-f15818d8ae40 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d74bcb69-5a3a-4d5e-a957-991ed93ecd5d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8b3e3cf4-a62e-4f9b-b8df-4a5de665a5c3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:93bae7d6-8b1b-4470-830e-456519c6818c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:899852b8-cb08-48fa-a325-b951ce831ca0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:54b47b6e-b4a2-4cd1-a7e8-69f56000ce3f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:e304026a-9559-4b9b-bf9d-40d9eec74b17 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31015584 uuid:586490ec-6550-43cf-9724-348b9821a5fc phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:71812c4f-76e0-448c-a25a-cfa2f6321065 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:d69cf1a5-0667-45d3-bbcc-cd533d4ae0ef phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:11d2969a-e143-44f8-ab63-d2fb518fd008 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:36e27fdb-4d07-477f-aa80-b12c0ac259cf phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:ee3b236c-1a51-430c-a52e-8ef886419395 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:937a7ff4-268c-4bb1-9fae-77f5ef98d6b2 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:acaa3a61-e0ee-4f9a-8542-d4309113a583 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:8e386f76-c1f3-4530-a16d-ea77ec4b8883 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:74192014-a37e-4f30-ba34-25804cccf974 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:8d407b4f-6974-4526-a08a-4b88be4c29cf phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:f5e95590-528d-44fb-9eee-a8921d07b08c phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:d85acd0a-ac74-4e0c-8442-b8621f56849b phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:dbc99c80-5e8a-49b5-8cce-f18abbc09346 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:5c0f8fe2-b801-44a9-98b0-55787b43a5dc phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:842e10c0-69d3-4f01-9de0-323372ac7790 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:ddcb4350-ba17-4fb3-b877-648ceb513092 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:53354116-21aa-4959-b32c-f14fcd64b82a phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:b9bf2d3e-aadc-4edc-a4bc-96f2185a3fc9 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:660bf1d0-8c80-46f1-8d7a-8cfad408b77a phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:18b0a57b-ce45-4521-8d42-a3de3a62c23d phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31015584 uuid:abf8768d-a213-4e1a-a4f2-57e96d906bb2 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31015584 uuid:f065de17-8d30-409d-98fb-2a1b268e644b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4e662ff3-844d-4ac7-b16a-07c0de840b5d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:c0915e9e-3caa-4751-b483-061afe6e5da9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2255ba76-6932-4fa3-a6d3-f8c439bc8484 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:71ed6cef-bfe2-494a-a91c-e51aa8ad9761 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4d71cb6a-9037-4f91-89d4-69e54c436acb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:5819eab3-eec4-4f7f-a5f8-717edb7303e7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:5b72870b-ea26-4241-ba07-f7f727eb2092 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b3db0cc6-ef07-4d96-ab03-de2db21a5f5b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a3bf06f1-7ef2-4464-bba8-fc0695370ae0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:75fd661b-7d55-458d-be4e-bc8345b99874 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:9b7bd618-8ccc-4d92-a277-87547ba7fb52 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:16d04b63-9b05-4806-92f7-acc5f4882831 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:45399e98-bfe6-4d71-8d24-3c5bfae01afe phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1cbce37c-af45-413a-a9e7-4636d34b7ac3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1b07168b-c38f-46fc-b700-644ce011ca94 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:422b87f0-12ba-485a-be4b-aac7db113656 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c9d187a8-a103-459e-8588-d93ffd53cd4d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0c0487ed-be30-4cc8-bfd2-a2e201dc8bb1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:59227dcd-18a2-464d-b757-583c8035c0ae phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f4e0e9e0-c793-4f15-acc7-d3b2699f1824 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8c9f75a1-446e-4b8e-bd9a-6fa300883e09 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a2888e3a-cf6b-4cd7-8f0b-d6788a711472 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ee1974d3-6235-4ddf-9f7c-6ff525e4f0ee phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ffd500c0-5b18-4978-9344-ce1430728c4b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0ea35b32-f916-4169-b99c-e3a132476d4d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:95140e38-6a08-4360-a959-76872a8e0cf7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c7b5d00d-e719-4c61-89d2-5d171d4b2143 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:43e90d3a-b51d-4a6b-bede-0d21ed1d7f87 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:0b7100b7-cf23-4cef-9e3e-d36e602fa28b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:039e7d87-8907-42d6-95e9-3bf1f33f63eb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:17e8e343-50e8-4ed8-9262-13881fccfd8a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:49a92409-7806-4715-9dee-7a7fd68f0df0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b66f0a17-22e8-4b69-95cb-ebdab753614a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6ca39d16-e605-4943-b26d-3b394a83bd4b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:469ae5b5-416a-4d20-b89b-fb547457acb0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:311c7fae-57c5-4063-8e95-1b436f4d82bb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:da752d2f-c99a-4efa-a23c-bf49bf20908a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fdb71b95-eb5e-4145-91e5-54cc857a7b75 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:753412d4-2943-4cc0-b764-51fb59be4103 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e08d0447-06b4-4c3c-9ae4-08a072fc423e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:dec3ab63-e4c6-4553-9a49-31396dee6ef8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:55d08f9f-2566-48c5-908a-20a340d0af7c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f38a1886-dcd8-43c2-bb5d-f9dbb5629a89 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4af9ccf1-bf2d-4fb2-b0bf-0cef0c4c0493 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:63a87083-4a99-4cfe-a5e6-44d74c94d14a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5f8b7534-1391-4eb7-b4ed-75f355e40b87 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b3d8d602-e5e8-4dd9-bc21-91626ca99319 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d297cb78-042d-4836-939d-5e9ab162e16f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8d30a2a1-9e16-48f7-b23c-28ffc4b5354b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f8d070a7-5597-4e6c-ba05-f16a6f236e08 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e148353f-0306-4fe1-a1f9-effa44d8c2b3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6b04d4cd-e7f3-4306-b4a2-cdbfc6a52973 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:438a66c1-f994-4223-90c1-a76b932e0fe3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ac72b393-4781-44f5-8cce-d48348f1c44b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6aa0d1fe-ed83-4cb0-b7ca-a026f9b94256 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:832db66c-9a10-4706-9026-7b1d101bbe39 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a0585596-c2cf-42d8-b9de-551ade0aa06d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1d1c87b5-3aac-47df-ae82-5a816097bb45 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:a393d387-a43e-4866-8b83-7b457e4b7bd5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:a3365a9c-a342-44cf-8035-10c4aed8d1a3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:1df779b3-0561-40b2-bfd7-4b36a4185d45 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:df05604b-6e76-4045-90a4-c118bd366ef4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a53117dd-6019-4d9c-8fbd-50cf4f22174d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:365ddf19-cf56-46c4-81b1-aa02e31ee33a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:7b317cf8-9798-423a-af7a-133f09554b0b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:ece37c96-2391-4131-8cfa-6c35ad1013df phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:d29bc467-1d5d-458f-a455-233a7c6639ad phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:ecf007f2-1c90-40ff-b9ea-3a1d81854e9c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:851f5aae-4c7c-4a0a-bd91-903fee2d8207 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:24a47a88-ca13-45d6-b74e-7bdedc5e32f4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:681b85a0-e2a6-45c9-a937-40e9a2005ec9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4b0c2205-365a-4507-8721-6c47c608ecff phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:faf5026c-7489-46c6-af34-ed7092e0b1b9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:77231622-350a-4d45-8e58-9022aedc0a99 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:5593bb37-5c60-4754-b751-81c21062d7a7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:626de089-07a3-4ba3-a056-31b24b4a2738 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:04842295-efe9-4f62-9fc4-8c931a139d9b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a9b61520-5ea4-4b9b-931a-86ea993f62f7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a27379a4-4e01-4dd8-900a-457a61f44c51 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4878982a-e74c-48d0-996c-47dbb7f94dbd phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:eaa2e47a-6017-4f98-845d-53b46cc0eeac phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f9e86448-7beb-43ef-b217-85e9ef2f0681 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d84a2a5d-0d5f-4b7a-8ac7-e2f30425c4e7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:58bb05ea-2022-43b7-a1de-b390d2fdcc0d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:777e7f94-7a95-4adc-b76e-51bc504790d9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ecaaf953-69f5-482e-b9f5-bdf8ff9edc0b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5edeecd7-4747-4f55-bd58-c4fb7d12c38f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a9ad5295-e5f4-4714-a1bb-08e3f0ddab7f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:c35e64d3-fc95-496b-9d1e-4f743e5d182b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:29c28e68-642e-4a45-84fd-6e39aac672e3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4bd4917d-14fd-4b8a-a79e-48492c32162b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:ae801818-a6aa-4cd8-bf9e-7ebed9528bac phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8298730e-9d89-4dbf-8af1-0c90a0d8f5c3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:04e9e76a-69bb-4349-8d2f-0f3b33c95c28 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:370107d4-81ac-468a-93dc-c9a61796b67a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:34a23dd6-bdb6-4066-a086-7380407b9bcf phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3b980d86-ff21-4f7d-a2a6-a32601aff5cf phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f31dbce6-c3e3-4b00-9e0b-3353f1b4b608 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0564e6f0-d8c5-46fb-89cd-7d667590a264 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bbeef9cf-40e0-435c-9534-8f6b6da0e3a0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fcd9f65f-0d2c-43d6-95c2-5b6c8726022f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d01a1643-5c8d-4695-94e1-7e66d23b5de0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:449de24a-bfbb-4aae-886a-1d8cae908c50 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6a4b32b4-4280-4a28-bf1c-3f970cb6f4c4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7b6546de-73cd-400a-a6ba-2ab52dacdd28 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5ca457f4-29bd-4f45-980c-b2816bc6b721 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:14864d2e-ca95-4064-8137-fbd7449f0470 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c4762bdf-1526-4b9d-8f0a-9f022f8c6501 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f039401d-af8b-4f41-9f8a-7e458398704c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fb636bd9-25da-4adf-830e-a8ced8f3c833 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:52d28246-c501-475a-a2d6-713d85da1f29 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d71848b8-0566-4dc5-9733-00ea008ca361 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a6b3e1e1-e77d-4eb4-a3ef-795b94a43de4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:87d5c652-9451-4625-b90f-e862a2d1b624 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6ed4819c-06d9-4665-94b8-cdf8bb5052fc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e0026920-4f71-4889-b490-fce86fd7430f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:15ab32d0-f62a-428c-9618-b320ea93160c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:77fc38ce-a275-409e-8a49-1b86cef5730d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:bdba52e4-9947-41a6-8090-44cd7c69265b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:083eb461-0698-4320-a656-41b1433e0038 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:03b00596-5751-49bf-83d0-6cfe89b0f634 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:ba325d44-7bb1-409f-b1bf-243fae6649df phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:2f24df8e-bacc-4ab7-b7f0-a23554c65a92 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:f8ed584a-0e94-495c-9b69-aefd415aa545 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:be386ef6-384e-425f-929a-335b89fefb6b phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:f005a269-07b3-48d8-b1cd-99e9083cf4bc phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:e17a984b-b598-42db-98b8-d6063525c200 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:86ca9ffb-b5c0-4c8d-8646-e6d6c059caad phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0002680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:78dee0b7-e4aa-41eb-bbcc-bb5c33245d9d phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:dd8e5dbc-717b-4c8d-94d4-effae7171d86 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0011927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:cf66baa6-7d54-41e8-b247-2a141b20aa3d phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:1f30b144-9b41-4a17-8080-39cd7d370f37 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28425089 uuid:d842be0f-3da5-45ec-8476-28f0d3c069e7 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28425089 uuid:24785306-f759-4172-a8e1-bfbc4a3e3c43 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28425089 uuid:984d7899-bc17-4495-9fc9-fe92aa5563fc phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28425089 uuid:091aee10-05c7-4307-ac9e-9a33a637bd56 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28425089 uuid:8e696290-1a00-4ec7-b770-8a6e86760bc9 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28425089 uuid:bf003891-ca62-4699-822b-43935010e50f phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28425089 uuid:4b94f6a3-3a02-4c1b-b90d-55003be0ecff phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a3035e40-6672-40a6-81fc-c0bb83547538 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:94721044-805f-40eb-a7d5-30f52e1920ed phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:3f63babf-d72e-4a66-b517-e3df3f7b9c25 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:dd4ab299-43c9-46ce-a722-be11c4e104b4 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:17216fbd-4e80-4186-bdc7-e214376ac2c8 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:611a0504-69eb-44aa-9959-3221badc8094 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f47d5950-a3d4-408a-a336-a4a3f2b6c1cb phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:ebe9025e-8e64-4e8b-8192-db020d5b37e8 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:d5396330-a361-408e-b2c0-061737493773 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26541327 uuid:b38f5146-d11d-4d6d-897c-5f0421119389 phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:265829d1-72f6-4fca-84b6-1e09ddbe20e3 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:e2b24b9a-8720-414a-946c-c0bdbb4d987c phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:e54602cc-042f-4c11-9789-c154e2c179ac phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:10d4b015-a55a-43fe-979c-aae207ac8c98 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:5cc5e712-d7a8-4abf-bfae-729a940695ec phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:77ba0d53-a78e-4763-acf7-e38002f46d63 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2c294302-e114-4c69-b1dc-5a6f9deb256c phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:c4906db5-248a-457e-a5c0-93379d602679 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:a9ffb879-1e7b-4592-831a-cecdd2433f20 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f0efbf38-1c60-49bf-a60b-477d5cf82905 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f6669e08-c3b7-4527-89d8-15c9670b90cb phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f8d71483-d8cf-4791-9d53-267804cb79df phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:0e1da5fb-9ddb-4e29-a83f-c1b4b95fa99b phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:c5ed23f1-d2c4-468b-b265-25e9b0bbcff0 phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26541327 uuid:77a8178c-d146-4ac6-95f4-7277a2bf87cd phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:ad042a51-2a0b-418f-95c1-a327d8ae9c34 phenopacket.store:NBAS.PMID_29207168_patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29207168 uuid:f91247a5-4f36-409c-9f18-5fcbc7c6718d phenopacket.store:NBAS.PMID_29207168_patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29207168 uuid:05d6dd3d-b068-41de-b982-045f91edce88 phenopacket.store:NBAS.PMID_29207168_patient biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29207168 uuid:4ec78fee-7867-4265-b81a-594fbe029756 phenopacket.store:NBAS.PMID_29207168_patient biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29207168 uuid:9ff21b9a-5556-4731-9e75-30c5d6e54fe4 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:677d012d-622b-4697-ab61-3f9776d1aec1 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:b5ccd0c9-0512-48a6-b348-6a7de2440afe phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:eba84b33-fcb9-4145-894f-e7490e92df74 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:69a94060-ecaf-421d-827c-1f3fadbdcc3e phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:95169010-94ef-47ad-b1bc-d3077322b0c9 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:0b4b82ae-9403-46c8-979b-59a2b165769b phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0011098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8510dabb-7555-4419-8fec-83343bf5c6c3 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:d5f5ca07-fa27-4f81-8e3a-05e60c7644b6 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:423f9dbf-6b02-4abe-b617-70709464f44e phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:50641830-b40a-43eb-ad5c-5959a015871c phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4f031133-cf62-4346-8bbc-decce4a28f62 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7f2ed87b-289d-4775-954c-3625adcc2eb7 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:57d68451-5b19-4a75-8c19-853c8d168d94 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0dfc48fd-6688-46d2-b519-477a25a53574 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:26c8135d-34c9-4210-8d32-fc20ad824d2e phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:30997904-4e1d-4000-ab66-1eabc7a13a7b phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:a13157b4-5114-417f-b05b-863e6f3b52bf phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:1fd6eb6f-fb81-4fa1-a777-8671790c28bc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8e15f02b-8a04-41ac-abec-f8a6a67a9284 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:678fa9a2-cdef-494d-ad22-8a1a0038b7c3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:113296e5-b3d4-46fa-9f48-4294b47bc33b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:74c317f7-6223-4dcd-b853-7b5006eb39a4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:aacf7c8c-c432-4e8d-90ea-9e9c8feaf854 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fd082ef1-32c3-423b-b0f6-5519d2640271 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a0ef4c98-ecfd-4476-8ea0-63162904363a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:375eca7f-0f69-4bf1-8633-8dac77cfbb31 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6bfb1c85-09c2-40e0-b5fe-b956fba8923d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:497bc06c-aea5-49f1-ad14-1ef3355c1e93 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:9682c919-2516-4305-95e3-12ea6e295b72 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:00136e44-ca20-4c11-b684-3cefc232b610 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:86f4c15f-8a26-4f59-a130-f4cb91ee8e7d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b6755f57-4dda-4ba9-b1b9-bcc525fbad38 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fb150cd1-36ce-40a5-bbd3-50b505d9b5b4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:30a3fd05-bc34-410d-9b31-949d09f6094a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0c973e6f-7fb2-4984-b5ed-9ee3331ca2cc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8974b52a-0859-4a9f-b7cf-d82e0e62ea00 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:70e7227b-ff0c-4ace-9522-17c307833adc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:412050db-2892-47f2-b795-eb46c6913186 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4af5043f-27b2-436f-8f12-6ab56134901b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a3f38924-6a56-4e8b-bcd8-a7098d8b4ce3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5c08ed36-0ea2-44aa-8456-4019c4ce259e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bc3db8b6-d761-42df-9d43-af98c29269ed phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d3c9699a-cfe8-4542-bbb8-14b397f79414 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b3e98935-d5cb-4695-9747-cf9faed08fe6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:268aa8ef-6551-462b-b512-5a6719aec090 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:daecfbe9-50d3-4185-a46b-9ad3ff6272f6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:6b6c342d-2ff6-4395-b4a2-d0aae55a80be phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:c78873a8-c7cb-4270-afcb-da7f7fabe4c2 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9783c75a-b52b-43fe-a018-983166d6948c phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:deda498d-4619-4d9a-ad64-af487cf4786c phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a59e117c-2d4d-4be4-b2e5-3c2e0947841a phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:1db361f7-1e2e-4a8b-bbef-41268840942b phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:ea709a48-283d-4da7-aa85-380b4da96880 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9e893a18-a5ab-41f8-8f52-a58df269e478 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:342a893e-926d-43b6-9329-9bb59222403d phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4c28f452-2ee3-463c-a0ca-c4e3ad291d8e phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:7a05c2fc-a6a1-479e-8788-78420ddab596 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2c973575-abdc-428c-891a-54057d62ced3 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:63a1e60f-8baf-4343-86d8-e0a5dac0558d phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:334fbf5c-03ee-487a-820f-5399e2abdc9c phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:c05cf963-7836-40e2-b956-d6aab5e14e34 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:9c0c5def-6bba-4c99-ae7f-a6be63039917 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f120f352-597b-4f3d-8ac4-4703074abb62 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:3deabad7-6fd5-4ae1-a99c-568bcc0f1a5f phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:23014871-2873-411f-9338-8787a22d2649 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:3810b136-d64b-4089-a72e-fe7d52cd0815 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:34631239-93a3-47ca-b654-c0824a6b7e39 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:26541327 uuid:16747cac-ade4-4a1f-b146-83fd34c3320a phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:a8e98445-b84a-4b05-a8b8-0446440ac5e8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:6dae5298-f83f-47f8-b426-b0c238629574 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:07a15c62-0142-4f47-ab7c-a40d214576c2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:f7a8b6a2-f1c3-4949-8636-3112ca38b4ae phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:10a9d66e-856e-4490-8372-53bcb58ad72c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:5e09dd81-26a5-4311-a62e-8e5c1522c6fb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:633603e8-1af5-4511-92dc-4df00082abfc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:bbbd5bc5-e5c8-4037-98d1-d1aa7c28bf64 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:01b37c45-1c1e-4691-b722-2c628d93ae4e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:7b162435-3cd6-4956-9431-b8c75087f23c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2fc50016-7857-431c-a1ed-54b81c061d4c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:eef70f31-5708-4387-a1b8-714ec54628c2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e7785625-a988-48b9-bd49-7e551d7ff24a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:fb14d027-6d1a-4d8a-a6c8-4fcbc0d7773f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:225e1934-a5bd-41fb-9f70-d7f16c724c2a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3c3dc4b9-ddba-4039-8d7e-ca2930cfdaf5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:18f21c3f-e9a8-4e2a-937f-879fa9f8a447 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:cabbc911-4f52-4e7f-9c14-1d4083bcc49e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:64690ef2-47ee-44ca-88c3-b0776e350213 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2ad5356f-05e9-4bbd-b91d-11d7edc2bae7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7b9d6c9e-47b2-45f8-afcc-6052264d1dc6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:93d1164a-6a5d-4834-99b1-bdf705c0de74 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:32110902-69ed-4e4d-bf00-73c38e789741 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ae35ed1e-d685-45ce-bb2c-0ac99932ae65 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7f1060b0-2a90-4948-8e14-9f4d97ea0f7c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:77fd55e6-8ab1-4478-af08-db849a495303 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8121c235-f78c-4595-8171-ea4b895dac4e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f751cff9-fccf-400d-b059-5d39bfb7d1c5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a07d97b2-6624-4a9f-ae83-1fb25485a30d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:d0b53fd3-00ed-4ac9-b475-8309392d254f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:2164e3c6-f30f-4dbb-a2a2-46ecae9b335f phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:311dcee0-6529-40f2-8272-4965cae09f7c phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:d66e12ca-6d89-41e7-a705-85398308b3f6 phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:326374a1-77f3-4f1d-a691-704598bd19fd phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:2a7b1a69-c64e-4c67-b435-e4afa3185a3b phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:2b59693a-9ea3-43e7-a12c-234f2753ee1e phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:6a54fabf-be81-463d-9f8d-e6e603cf51e5 phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:2d510cec-2d95-4ce5-a1df-c6dcef18be06 phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:a3cfa0bb-581d-47ae-bd83-62a266a0077a phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P6M18D infores:phenopacket-store PMID:28629372 uuid:2ea270dd-5c34-4596-b67e-1da5fe2ad7f1 phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28629372 uuid:859bae0a-28ae-4f3b-a408-57d8f232f9fc phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:ba83b312-b865-4e57-87f6-ff72cc243b74 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:2d4c6485-f166-4f5f-99a9-930b4f985f31 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:26f03656-2f8a-4f42-b2d4-b1d7d3985702 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:a6572747-7bfd-43b0-b1f4-2919a186ae99 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:cbf9d8c6-afc4-49e9-8ea5-04b2d2b9480d phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:22de5085-7c77-452d-b0c4-7932c2a5e430 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:30558828 uuid:6362fa39-38a4-4eae-998f-0b27401c0c59 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30558828 uuid:3153ca23-291a-4c97-b552-036ff01a82a8 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30558828 uuid:9a485692-fd9a-4c0f-8abd-d50470312c08 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30558828 uuid:b4dc7a65-015f-4c2b-9e4b-8d2fbde96e70 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30558828 uuid:035666d7-a320-413e-a912-b1b6dfde295f phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30558828 uuid:fcdd9d1d-d776-42a0-9731-def33423e641 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30558828 uuid:c20c657c-160c-488e-bd8a-f29c5b0e30b4 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30558828 uuid:dd78a93a-735c-4e17-a5b4-baea5c3f6068 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:30558828 uuid:0bc0341b-28d9-4aa7-a8e7-1211bfa57497 phenopacket.store:NBAS.PMID_30558828_Patient biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30558828 uuid:e5a58150-0fdc-4e88-b8d1-d2750a329de0 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31889758 uuid:1fb5d879-bbba-4d28-a245-27a9c73335fa phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:31889758 uuid:0a880f13-2d99-4e31-9418-645a0828ec2f phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31889758 uuid:95642ad2-2179-4ad5-9c32-45503b5391dd phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31889758 uuid:62541be5-964a-44eb-83ff-a369e03dfb5e phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31889758 uuid:472ac9d7-573a-4180-ba8c-1053b2f91278 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31889758 uuid:09a15068-546a-4889-94ee-c311feeecadc phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31889758 uuid:f2330a34-19f9-4222-89e7-bddea13498dc phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:0de7ab22-7dca-4a2a-87e8-e07255561d73 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:e0023052-8344-4c2b-b777-d8aead4661a8 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:9eca7f64-20dd-4332-8bb1-c48870ca6b1e phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:72caeb2d-0f52-4ba8-bbc0-3ab9b385f982 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:35125f9b-bc67-49a9-adf8-aa95a4a87060 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:3a03be7a-8ae7-4903-8304-3c604ec8fc85 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:4aacbee2-b116-4cf8-a11a-cc5559aebe5e phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:10982854-2084-4aa3-990f-0f74c8d70a15 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:e903a082-52af-4143-be51-ab3cdf93a83f phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:a5e08fe1-1881-495a-b7d1-358e54128d85 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:b3327965-6fbb-4a48-b925-61a300e97ecf phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:638672a9-7ba3-4205-b0dd-e20a179a1474 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:97cea716-060c-47aa-b3f1-17494c610b82 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:66fd07ba-4b5b-43f9-ad39-7136b437da90 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:2a83f31a-e853-451c-ac63-65bba69601e6 phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:9da9e9ec-a399-4b34-ac31-8e5c09ae5a7a phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:93780caa-2330-4834-a34b-14e8e481f8ae phenopacket.store:NBAS.PMID_31889758_child biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31889758 uuid:8c881e01-684f-4d06-b73d-2b9408a7258f phenopacket.store:NBAS.PMID_31889758_child biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31889758 uuid:b01b0a51-c336-4e06-a6f4-6410b01e3c10 phenopacket.store:NBAS.PMID_31889758_child biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31889758 uuid:274d13c1-7e8a-4e32-a8c0-07d5e9017a22 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8fbae62d-7534-4227-b808-d12f39c0aa47 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:61c72466-40a3-49ec-aafb-4e8ba5dce6f1 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:82984426-072e-4a8b-a001-ce35d74eed51 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:61349614-8e38-4084-a41d-dfbdfb4b7fb2 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e664510b-be9d-47c8-84dc-e09acb862711 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e016a273-1772-4ff5-873d-3b812c2202bf phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:f943a815-03c5-450a-8258-a2581259c708 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:8237b9a9-2b5a-4099-b2d5-12100b0a4c60 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:5d2bf7d2-9880-4c9c-91cd-6ecd31f27d0f phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e3aaf71a-7216-4413-b3f6-f38417f9815e phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:2c5e79c5-dc90-4c26-a007-67acfaea93e8 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:27d88c13-adc8-42af-af42-9f53e406324a phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:42060743-6220-40bd-aac8-e746eb73db67 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0011098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:9513fb12-b415-420f-899d-fc19d7869643 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3a94badf-6f7c-43a9-b255-fdc17b236af7 phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:024bfaff-146c-453c-be98-1f7525a73ebc phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:e4242eaf-c6f2-434d-a36c-e6da8d2fb84a phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:d3eb1072-5533-428a-92a6-d6b65acc1c2d phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:deb72dd7-cc7b-4510-8b3a-f0fe280940e7 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:45ce4b44-842a-487f-9fb5-c1960f92cc29 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:fad1a98d-e200-4168-99c7-96f549710c75 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:6f644f11-7bee-484c-81ac-5c9a8e09da53 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:7599c818-c667-40a5-b0ec-81ffb5595247 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:382f430e-da2d-4bc1-ac14-63f8f67b27df phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:824d5d84-a13e-45ae-93b5-2be0a2d0047f phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:4cd7a174-bbc4-4d40-869f-e53c2ee53cac phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:125e37de-8a0a-45d9-95d5-8272a45dd635 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y11M infores:phenopacket-store PMID:26541327 uuid:dff9756c-8839-4960-b339-fbd63ab85ea5 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:b81f7e7f-724a-43d1-8cb2-2441c703fbca phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4bd7050c-e8fd-47e4-8559-9b074d63a48c phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:eff9c8ad-d265-425b-af15-7e6951df99a3 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:783f6a91-a1a3-490e-aec1-5d17fd974576 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:760bac16-a560-4969-a59b-bcf52dfcb281 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:f80f1791-e715-49fa-9d95-8d56d234a259 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:8d3152c9-ad7f-47e1-badc-a07557d89d85 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:321b4fb7-b139-4328-a79f-100d829a6517 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a24c4d93-3113-4fa3-af9c-919b5b2966b3 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:082fb52a-3dac-4561-896c-eba125bc5f92 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:2958de67-22b3-4638-add0-efff2e91ca33 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:9d3732d7-7b63-487d-9614-fd5ecd81c574 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:779a1ff3-4fba-41b9-9339-4b4f96eb4c84 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:573fb184-90c5-4349-b617-32f58afc7da8 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:ba5ef97a-4d22-47a1-b3b5-8a86ee4b6d00 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:3ecd47ea-1740-4198-9106-44cf4904fe1c phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:fc1b5d71-bef1-44a3-8d67-fa7c2c9fec29 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:4fc2da6c-7b6a-4c0a-b5df-634aaab6b448 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:26541327 uuid:607986db-1fcb-4658-9db8-5a409070b4a6 phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:c4d7e19e-d754-4172-ad63-244f21f7e642 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9ff0bc76-73ee-4f3f-a346-b143ed6903a2 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:c95d9b99-be21-4863-adb8-f2788a99ab18 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4b5c3e0e-0f83-49a0-b43d-6d7ae96e97ee phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:3a073d62-8b53-44be-ad13-4c4c139bf1d8 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:88b3ad86-6a2c-42d4-a93d-48f5802e0758 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:7798b693-8ab9-4711-b662-16bc678a7660 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:cd22ba90-caa8-4656-928c-3497f7f2e41f phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:02911fde-6048-4fdf-83d8-e5f576e48415 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:cfb1a972-2b3f-4497-ac41-d1e2f76eeb97 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:ee9dd35f-cc4b-4fad-aeec-3b802c7cf47e phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:fb04fe3f-b663-45d8-b229-1eceab9853e3 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:1f000db9-dd51-4293-b53f-057731739494 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:99ab03e5-71bd-420c-9f06-62deac52559e phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:7a66a3b9-352a-43c3-95e1-2e92c7565ea2 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:6f360a45-6de0-443c-9a65-0c0e154a61f9 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:aac1ecdf-88f7-4958-b982-3a3196af42ab phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:b4844607-6d1b-431f-8040-44b0d837b03b phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:6ec971be-cdac-4ce9-9d5f-d327d65fdb80 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:ccb685da-ba80-46b9-b208-3e0ab00625ab phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:949809a5-24ab-4a8d-aa13-ca97e0161ce6 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:26541327 uuid:0bb40553-9c72-43db-9a8f-2fed889fb032 phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:c5f7c776-682d-4232-a359-c6f67c7ea57b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:a0f64778-66ea-45c9-b116-3f9107288bce phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7dcc026d-cd1a-4edb-b408-8ca50d494767 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:18356055-fecd-4626-bede-7584af4c7b9f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:832e1261-fd7a-47a0-b81d-f81d05641fd4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d18d3b01-961b-462d-921e-09e11f6de20f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:60abba94-6bd7-4097-b141-ce18a29d8a28 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ed918691-ece8-474b-8acf-a3859ed8650b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bcf8e8f7-f4ec-4b79-86e2-f6725daf3645 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:72c80f13-be9b-4b02-8dc1-35981ad70b6a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:9eb02fc3-6f54-4b07-8676-b9724b65a580 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:309fa5b8-367a-4f63-8a24-6ded7f19737f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fe12c4ca-fd7d-43d8-a83e-b0bafcb4287c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:20d4aa5b-f94c-4da7-a810-a6a7ddc98732 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:807c3e29-40e8-4c8a-b99e-512f114c6c8b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d117bc17-7639-4814-b309-3c18f124ca94 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bc793717-93c5-4e47-adde-7dccbddb7e58 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d69abf6f-006a-4e28-a4ae-1762fb265917 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4ac812fe-691c-4429-9ce4-a19b8cb0c58b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:eed219d1-f41e-4623-aceb-eb3c49d62cd7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7d100ff7-ec06-4c94-9149-462275cc6008 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:90317f8f-22ea-4fa2-847e-9454085a2468 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e3b6f4af-84ae-44ac-8438-c761d6d1cb0b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7594b7c6-eadd-498d-9bdc-67cd85849ff0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a39c3247-f803-4df7-af32-eef3cd0b5225 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:9b4837e7-b05f-4f5e-b135-46a447605d2e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d530683b-02d0-4c14-ac87-1756c3af2479 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b460170c-9145-47e8-99b4-df6c6483fc98 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:839f33e7-911c-4c96-bbda-5e72f7f04d46 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:8bd2da18-fbbc-47ea-98c0-b5243fb777b7 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:9ce8fccc-1fdb-4256-9a41-88200abd44dd phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:646c6458-4b8b-40a3-8104-d87cf1b38937 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:6b2079fc-9dbc-46e9-87e8-e060fd42fcc5 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:f2e1073d-88ee-444b-9331-0a22d6a485ef phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:6ef9dbfa-9a9c-483d-bfe4-b5e7349008ef phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:6fa6fd40-0c38-4d1a-bf19-ee08f3903e6c phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:fe91f7b4-1a61-40a3-b35e-f22cbd63ec2f phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:11ecd846-1b3f-4fba-a3fd-2890106a9910 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:06712111-8ff3-4807-8fe0-b21ac2e939cf phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:1a7f480b-5243-40af-94bb-0a80cc801275 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:3979c701-1326-47aa-94a1-bee2fe99db73 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:f2ef51d0-b28d-41cf-b31e-d421076379cc phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:38bb131d-c8a2-43c5-8048-5550659ca9d6 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:999e58cd-7c79-4bd7-8655-a1e09ba92ef4 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:e7462d07-b07c-40c3-b0ed-cac859e11e8c phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:3e42c980-f767-4995-aab7-7aefa01197ff phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:a1285941-c99e-45a8-b37a-4f76345f953e phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:2809a3d3-8a8d-439d-a3b7-9f37a7ff9b6b phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:86be629f-260d-4ccf-a22d-ef0574a8012d phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:3ea45f7b-46e9-44ad-a18f-7645156ff472 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:b04a9fb5-380f-4623-9cf1-ab45efecd6ea phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:cb336c1f-0e8c-46fe-9801-20bd3780c664 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:e088f1eb-d0f9-4198-90ba-16b94a48d1be phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:bea6ab20-f8c4-49b5-aa3f-c2b2e3f0e440 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:59af5f2b-63c1-4e36-87ce-09e351368c39 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:e2a9533f-e90e-42bf-8613-7316d84d86f5 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:f34c83be-9261-4991-a586-45bf7e7db647 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:d0595ee7-9e30-4f62-8e52-88e2b9a7b7a6 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:f1572565-fcfa-4f94-9fe0-e68c2934eb77 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:28576691 uuid:cc4aea38-3653-4c83-a877-21be2fae00e7 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28576691 uuid:bba13116-e8c3-490a-88ae-f18707db90de phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:74ec22d7-fe4c-4c94-ae2e-57fe4d20859c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:7841b72a-299e-49d1-a47f-aa0ec6935a0b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:563101e4-9b7b-4a84-af7a-a3d972a06427 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8d445d8e-ee85-4695-a00c-220da438b6c6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:359019ca-92c0-45ad-b98f-f44858153c43 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fc4bc584-4e1a-4ad5-a520-d07aa2b8da7c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:69b7e302-e390-4636-acdd-35a544db1194 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:57b8fa01-a145-4bc7-bf03-1b0e43723d00 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:940711c9-44c5-4385-8709-3089c308e07e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f3e05e56-259b-40c0-b08c-cdf076d6c86b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:46b353e1-e571-462c-8cbe-91b79d25f3a0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d68c465d-b28b-4490-bfba-634e2a5a83ce phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:581f40a1-cd11-4322-86df-ad1f44afa79e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:06636642-66b6-4f91-aacd-73f4c38e71fc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:18678900-34cd-475d-8c30-bab4a109993f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:218d609e-9ea1-4631-b820-c689786dbd44 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b665fb6a-1da2-4f7a-88dd-c99877f21751 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b029fd15-78a9-4950-959c-4dada4aabf6c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b9f7216a-e9ba-4db6-a3e2-007d5e3179f4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:422c64b7-773f-4fca-a307-6f77c28f937a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:588f1a72-c69e-430c-a910-8088e42ee62c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:799c6420-55c8-4c53-b06f-d1121c9f5f0f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:06e4560b-e3c2-4410-ad3c-2a38d68d7ff5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8a1f12f9-fe47-4066-be6b-e2c480f6d605 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:dc8695e9-8980-434a-ae8a-82e33a3e9dfe phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8b6ee210-2ddd-4c27-8bb5-dc50c4117b0c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2fff6a0a-49d9-4d31-ab6d-9053c770b483 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:38ae62ad-a095-431c-8eb5-c75c3a5ad6b2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:b7589354-4a0f-407f-92a7-ab87d0822c5a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:e31e9bdb-0aef-4cb4-b322-1bd982a480be phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:4e37f5d0-14b3-4546-9263-7808bd616882 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2afa2f55-556f-4ffd-a1a3-4e959df931c7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5fb4c612-f980-407c-b593-2bec64747acc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:29e031e3-fee8-4281-9a9a-0e8724150e4d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0f4dee06-80fd-4294-8b8c-e054d4ae39de phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b2655b27-db72-45fc-810f-a4dfb936e784 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2de17302-3526-4a32-b0f7-e6e474c1fd09 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1dddc220-051e-43bf-a1f9-e5e20e873a2a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:45c02282-3174-4e66-8e84-f0c16a81b71d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:29eda98a-8b5e-45d4-9ba0-6ff3df457f42 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:98a94d82-d146-4208-b203-17518e94b720 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7178c106-4f94-450e-a3c3-dcbf8e710132 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3bb9b6b0-8659-4b95-91ab-7fb82180bde9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:65699553-47fe-4606-8718-b1948b896f89 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3d708a74-c382-491a-b08c-07f83c48fdc7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:21eed415-b5e6-48cf-ba52-0af2f6c71291 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a4e0c815-ac81-48b9-a79e-f7a1bf23d7ab phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ccd30453-573a-4130-8156-90706e491164 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:dc6b7d5b-2927-47b7-bdff-6d3d987fb81e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:76bf957b-6b73-4829-a127-e06e5ee8380c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:42c0435a-96f1-410d-b41d-9d563f59e792 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:44c56844-3aa5-4df1-b61b-c965ae79cffd phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1ff17efb-ffcb-40e0-accb-08eca6d75207 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:abea247e-d7c8-4bc2-b2f0-7c5e94bb8512 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c3de7623-b1c2-48ee-bc32-20a0f64d036f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a179119f-6d0f-4526-91fc-27b6aa32019c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ea944744-8ba9-4a3c-97d7-a86766770a81 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:41f25755-59f1-40e5-a720-1a21b7a8bdc8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:b2423d1d-1126-4cd6-8f42-b9a6621755cd phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:29575310 uuid:e80bc31a-fdb5-49a1-b8ce-a3eb0b55d511 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:29575310 uuid:6bd263fb-dd9b-4158-9253-9fd7c3ae0f8c phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:29575310 uuid:4d9f3518-f9c5-473b-af4d-9ce3ee9bd1d6 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:29575310 uuid:c48e631f-073c-4004-9334-46afce1ad69a phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:29575310 uuid:a92c6719-7c0c-4f66-8905-d2eab8e95b10 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:29575310 uuid:8e2dd8af-f217-4e21-9b00-b8e232a7df95 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29575310 uuid:5b76b3a3-cde5-496d-9197-8ffef93fa56f phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29575310 uuid:c3d0d0a5-c22d-4d3e-ba22-e59fed29972c phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29575310 uuid:fefedafc-313f-4b16-bd02-94d2a01bf355 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:921c687c-be91-485d-a479-475c6062515d phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:8c2fc13c-91cb-45d2-9fe6-ac3130d37a8d phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:4103fa1d-c5b1-4dcb-9096-c4374f50e8c8 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:a76ee38b-2780-4796-9fa0-5028588c93d0 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:92f5c2ac-4173-4dad-a84b-659c49091ff3 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:1bdc1afe-bb82-4444-b498-be2d1f9cd574 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:c9abbc20-9010-4fa7-ae78-a4d8bb747bd9 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:b885a39b-0f8c-46f5-a0cd-62fd7552b231 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:78f091f0-da70-4948-9b8d-2b3c181cdfb5 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:d840e622-9229-4024-bf4c-096b9a0831ab phenopacket.store:NBAS.PMID_29575310_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575310 uuid:279e8b2c-7948-4b91-865c-dd7755c8f261 phenopacket.store:NBAS.PMID_29575310_patient biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29575310 uuid:788ced56-1143-4e42-88d4-b9fdad373e4f phenopacket.store:NBAS.PMID_29575310_patient biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29575310 uuid:99315cdc-2857-419b-876f-feb5ae2f406e phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:e44cb2e1-8528-4135-8a6f-0ee0d1c57c1a phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:fbe02034-7c32-44ae-b11a-a0010ec785c8 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:a8ab1cb6-5cab-44d4-a904-480f84f9a41a phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:35c7579b-633c-4fdd-9059-133f2826d32f phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:a4c19777-3c60-4b22-ae5b-16c15ad5dfcf phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:e76a7357-9045-4339-a13d-fdcd2366f288 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:24ad6bf7-3e48-4f6b-8292-15c1daeff343 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:d7567b7e-e627-4b04-afef-bf5563c989cc phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:382e3395-ef06-4704-bdf9-ec6bd335fada phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:9f5c555b-ac7f-4b13-b143-afc8d5938835 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:56663b2f-b114-423a-8a3f-4567d1a7542d phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:c10d309c-b398-4a98-91d1-16d361a3bf15 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:0818abdc-d8f7-4c85-be1a-82da9fb75db3 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:dd3720ce-c455-475d-a7fc-92e6f02e5c98 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:a0435447-a64b-49aa-a7ba-54f2d9028a3f phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:5e9b9094-beac-447c-a12e-04b05b63d047 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:396c90c4-aa3d-4609-b02d-7d8330c1131f phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26578240 uuid:12ac73d9-8511-4b48-9aee-b5a42014569b phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26578240 uuid:b05fe5db-72e6-4b01-8f98-381d7bfc06ea phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26578240 uuid:b72822e5-eaee-4abf-b5f9-85fe0d581692 phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26578240 uuid:b103b09d-aeaa-455f-a172-bd79a6221c51 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:44776df4-1cec-40cb-9634-08fc600c479e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:d48f3a5b-2273-4d51-a7b5-b43ce66c1d6e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:58bc249d-d7ad-4c14-a012-dc65bb130b6d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ceaba1b9-3437-46db-ab1f-36d7622d168f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6228bd13-9cac-4fc1-b9c5-7c0f7c17354e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8cf29cfd-bf93-427b-ac3e-6bfc2fe96e37 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4cf4d96d-2926-4b6c-9f84-8c2a13ca9596 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:77234812-3c80-47c1-9680-979fafec0e4e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:78aea13e-9afe-435d-82ef-f9000ba7eda4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8bff0080-304b-4791-97d5-fe675f279d5b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bb5e929d-94e0-4e8a-940d-4aa955cb3ca8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f342b60e-22f6-4c54-9cce-d4620b963a03 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e20e9b5e-6815-4560-8399-723ffd015a7e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:879b9afb-d064-4b38-9e9c-1d7b82ca8532 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:25b5a6c8-2d95-480d-9f72-d0beea442a95 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:92d650f4-94c6-4cd3-a852-d6d7f4a6d7f1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:befc2100-dad7-4416-b993-7e0cc2b55887 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6c7dc9fa-57dc-4ef6-91fb-bbff2b2741cb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:843af1d5-397f-48d0-b782-c108a3b971a6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:21aa8d91-0323-461c-9968-1c23c7c6bee9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d9766d69-4a59-4eff-92eb-2028cdce3ac8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e82bfebc-a281-4a2e-89d2-5eed8b316305 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:15478cd8-e24f-4a10-9159-4dfedb4409f2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3de467ee-d4f5-43ec-9c0d-9bf1f14643ce phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:07b7d18d-9c32-49e0-88cf-ea22ce70f1a2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c3fcea42-14d9-47d0-a788-df2b862423ff phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ed6facec-2f9c-4722-823b-cee796f8f83a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:693d0c21-dcfb-4d74-9688-695d35540deb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:0cb46b80-482e-4b51-9e56-7c6b039ab4b1 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:823f5957-3e32-42c5-bec7-fc1601963201 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30825388 uuid:053c8f39-a0fe-4156-8561-4d93c8d62d3d phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30825388 uuid:7bac2efa-4ed8-481f-806d-f56413648216 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:30825388 uuid:c5103580-8081-47fd-8ffc-6a097f58d666 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:c1a65ab1-edd8-4ee3-9f10-4bc90fde8a1f phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:6dad6e8c-59f8-457f-9e56-d6e85c224af3 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:fee8d5f3-7b39-4aaf-92b3-38a59554af6c phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:3f213769-325f-4de5-bc30-acc45d6f4aa0 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:6c61f63e-ef2a-4748-bdea-5c4e2098c633 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:b1716b80-cab9-4fb1-b494-0408615da96b phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:85e1f20b-3d7e-48eb-84d8-ba2da5f69c0a phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:e9b11dc4-2243-4cfa-98ec-5a33a84ac809 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:41288588-75d8-4b59-9406-ec0ab200b0c1 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:caf560f0-3e15-4b77-8a0d-478669ec50b3 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:8225c94a-344f-4cf9-a260-2ab6bdf99e8f phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:38c0e3bf-133e-4bcc-bf9a-b19c58b1b8cf phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:34e2b90c-a81a-4b15-95fc-2264e96f6c91 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:552a7a25-7de5-4fb8-882c-f87d9cc41321 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:462cb42b-2c3f-4ad9-b6f0-b3391239bf90 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:4dd7016b-5ec6-4fa0-8b01-35fc664dc6af phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30825388 uuid:e0b2269c-e5e0-44f6-9443-9035acf40370 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30825388 uuid:fbca5fb5-a8c8-47a7-a82c-af4827dbb009 phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:99fb87b1-4547-4243-b86c-e450eb4bd3d0 phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:f8ff1011-4295-4430-b2d0-6675b275e0af phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:3b18e8e8-78ca-4355-9490-eb4f80355c40 phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:3eaf5cb4-ab5a-4e8b-89d3-f67da8b44c9c phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:df708c58-1229-4ae2-8825-669924d1eff4 phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:a57d6373-4c2f-435d-923d-a84075705bf5 phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28629372 uuid:c3ce8f11-4362-44a8-87e5-1a779acb09ab phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28629372 uuid:2c6d019f-a277-4543-9401-ab0a1161978c phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P6M1D infores:phenopacket-store PMID:28629372 uuid:4363ad48-0b06-4b75-be97-e5d47e5dc48a phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28629372 uuid:cebf636a-f5f4-4326-bb28-1d6957eaed1c phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:3a32b93d-96a1-4024-8fa2-49e8b1c43b9c phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:e7daebf8-f74a-4620-b772-34cd3309a6b3 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:8d946de1-4726-49d3-8994-49b40ab142c4 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2f2b5f6f-a244-460e-b1bd-33d5d3dc9c06 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:45e7bde3-dd0b-44db-9cbf-f50fa3173bbb phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:8bd83907-ec5b-4fcf-a0b0-069d53f0b263 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:8bf15e1f-7e61-4848-bd5b-03cf60dcbd3c phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d3375ac7-784a-4d09-8bbf-7ebfa6501f33 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:7c4dfe0c-126c-4deb-a5ea-ec4ab045fda3 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:107cd51b-31fa-4f33-852a-665fa0b99f3c phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:43198e35-ff5c-4f29-8fd7-99fe415bf99a phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:8768651c-fe63-4423-81c1-734b039b2a4f phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e426ff89-6aed-4c15-b30b-15af5d28d8fe phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:340896de-1527-4bbe-8e43-9ab5ec1df1f5 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:18362afa-11c7-41a1-9735-1523f7e7b586 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:8cfa9ff4-ace0-4644-87f3-6dbbfe91eee6 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:c1adf78f-e2c5-440f-a7c1-c0dca45fb9f6 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e21b0a46-d27d-4973-ab9b-b22d68028e31 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:9c9b234f-c33d-461a-ad49-78d302734c91 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:5ac64c47-1548-4188-bf86-67bfe20e3c7d phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:beb5e50e-f115-44ef-aa6a-644590f6d889 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:26541327 uuid:2cd8ea97-43b5-4c5a-bc52-d8d18f9c63e0 phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:75cb2d9f-c72f-4c8a-882e-1e8077c7e3a5 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30825388 uuid:9848365b-2eb4-437b-a924-6e6c6d9cde23 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30825388 uuid:e0ee1c07-2ed5-437c-b6a8-536561b8f802 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:30825388 uuid:39e9b715-f99e-4658-ad4b-8115b06049b6 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:1ffcd468-31ff-4467-848b-354ea771b1b7 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:41956fc8-134b-446b-8f0a-27438ca75b33 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:ce892283-7f9a-4e89-98cd-280dad1ea10c phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:c7e7365f-87c2-4d3e-a688-225521d5590d phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:1ec2fa83-0a16-469a-8a6f-5ef298443fa0 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:351d8fec-50cf-4398-a787-7b57ccb8e5c1 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:552417b2-2198-4302-a07f-e6542a823cda phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:a83a268d-d1fd-4a0d-9e16-8e4ee5fa88cc phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:9f3c697e-ffe5-4ebb-b4de-174e6b88384e phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:a1920d01-651b-4885-84d4-af9a4c2ac4c4 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30825388 uuid:1b6a7393-fb1e-41a0-aff9-6f343ebe9d32 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:ee53fe2c-b519-4f24-b875-6c341a143ac8 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:67ece3ce-1cf8-4560-9b30-c8372753f004 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:bb6a2b6e-7ea1-4ca0-b948-ff11539cd358 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:2e77b821-a882-4520-a4ff-72f9eea2908c phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:611fc515-1af4-46dc-bdaf-e1709eec6cc2 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:10d983d7-26c6-4740-b4ff-6d151ad7e5ce phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:c897b495-b378-4e64-b5fd-7803bd349818 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30825388 uuid:9461504a-20e3-48db-bfbc-9511a2ea39af phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:30825388 uuid:85cb5b35-87f3-41d2-907c-b41a7abf36a8 phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30825388 uuid:adbc6f48-401d-491f-9cde-55747d24668e phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28611345 uuid:d009e188-ff00-4a3c-a316-356830e57c56 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28611345 uuid:8fcbf14c-bd52-4487-b681-e3fc5e93741d phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28611345 uuid:ac207419-4cac-440e-9adc-b5c18d5140c5 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28611345 uuid:e30138af-5015-48f7-b717-e277de68eba8 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28611345 uuid:ae940aca-39a5-4257-b41e-5c8ea1052934 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0001396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28611345 uuid:14988d44-47eb-4606-9c0b-192d17beacc9 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28611345 uuid:4c9be893-2d3a-43f4-bf0c-0cb0d4630fee phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28611345 uuid:07615b43-0230-4011-96f3-abcc0b89139a phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28611345 uuid:ccf4e267-b215-420f-962e-9dc7b66c9cb2 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28611345 uuid:cec1a518-e6d6-4725-9b9b-09a085a83e96 phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28611345 uuid:ee625a1c-9d2b-42d2-b0f1-7d9e54c355cb phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28611345 uuid:854fdb2c-6be7-4f27-a8fb-3f793b87ef7d phenopacket.store:NBAS.PMID_28611345_case_report biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28611345 uuid:7ba77803-703a-465e-9fd9-bcfdcc57fa0f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:93b74a31-babd-4789-9afb-79bb5a532b7e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:3ee9e4fe-6cb3-4df7-b5bc-1e63d0b007d0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1cc20a3a-94d2-43c5-a759-d545598adc76 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f4dff13a-2503-4fee-bf5f-b786c41ac527 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e65be3e4-2a77-471e-acf4-54eb8ae44f72 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:55696fbc-e163-4724-bb49-3a6b9a948a1f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:33f0ee39-5c16-427e-92ca-df1956ba01cf phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:96c12509-4f54-46aa-a688-c6e9c4e1258d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:2664fe05-2bf4-4006-a047-b1a9a3cb0bb3 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8a750ae1-9a27-424c-93f5-2fbf941542c5 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:5a1c4f99-c4c6-4347-bad6-d0d51c46c210 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a9e77998-d790-4979-886a-a5b19739af90 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8af9e919-a94a-4e3c-b7bb-aa677e75d73b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8726908b-53a6-4eb7-aaa6-3a0eb03ce60b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e8356c64-c30f-4b5c-80f9-f9cbd16d2ae7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:90a0b388-ed9a-48ee-b7a8-bd7904a9523e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:da5de069-e21a-4c70-8480-79848b1adaf9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8a6f86dd-e6dc-4310-89c7-4897439af175 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d2d712e0-c521-4c94-929e-4d67a831f0c2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6e005714-07bd-450f-9048-4f0c1a3d411d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1b02df78-8846-4b4e-bfb7-0306836aea69 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3f7f63ab-aa34-4f8c-9e48-f3b38ff41cf8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:22c584f7-0eee-4726-9662-84b998c69cc6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bd63c967-235e-43f2-a26d-367050621ad6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f1417626-e98f-4070-8e0f-2d93f58f9f3a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:735e7a5c-4080-4af9-a22e-f4f6d50febb9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:11a05c26-936b-452b-ba55-c9159b2241bb phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:b146232b-cf9d-4272-8bd8-e33278786569 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:10d32680-214c-4aa2-8975-85ccc1f128bc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:bcc67b2c-ef9f-48fc-a02d-7398d7a1b036 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:997bbd8d-e8a8-454f-97ca-8fd5a8e03c7a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:cf52be83-2a07-4c70-9cac-84f82dfcbedc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e9c15f7b-041e-4617-8b1d-e73c1653acb7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c9b64bd1-6d2f-4420-8d9a-6f803750678b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1b0d5aa2-04f6-4c3d-8e58-390d98116e92 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8569970c-90e6-4072-ba9c-d9b8757f3457 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:470b588e-8ca0-4a50-9390-aad0899c0ffa phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:28880190-0ccf-41fd-9c26-a25affecb191 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fe84258c-dbcf-45cf-bbd8-5e412e7a3b04 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ced14f6a-55df-4355-bde0-88999a5d2a3c phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e531ba80-734a-4d94-a0b5-60d8b41ce05d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:21897854-4a10-4cec-9989-08aceba321cc phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e934078a-151b-44c1-8fe4-a3fa4a6e767f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:34264ed2-4143-4921-9506-8743e81ef902 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:39c78a32-2803-441c-9296-9062638cf362 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:cdd244b2-1c68-43e9-b1c1-98bcc1574b8b phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:00d8e39a-db69-44f9-a588-35119505abe0 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:61877791-bd53-46a0-b29a-2c5f27caf3e8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1eecb246-7f47-4def-95b8-73dd5a47449d phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a4373c96-a3a9-4272-8b41-8f75ad585736 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:acf9c113-4b73-4173-938f-49965791eb6f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:60fdd0e9-e668-4d54-999b-b3479681d224 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:e7b2e683-aa6d-4989-b801-709039a11ab2 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:bd9197c6-6d83-4d6b-aa06-60586da0c873 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:d0ad3f48-808b-4e25-9ff9-d0e9a9985286 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:96410e52-3e16-4625-99cd-756d8800910f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f20763a7-9b0b-4fc7-9eb1-7615db3282af phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:c6d4704d-b3b1-4008-991e-d916e4689974 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:a6b9076c-1365-422a-9a57-bf05f5438049 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a0371f50-4a13-41e9-9686-11169565bf06 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:aa19602c-8025-49cb-8eac-3efd7d538f72 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2f415be2-c9db-4924-8c70-1c7f8f69548b phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:43e12f00-ee0a-4571-ac0f-6c9258e46558 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:79fcf011-2e2f-4d4f-8ea0-af1e2d7cc936 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:db4ada63-6bc5-404b-85ec-f08779ba0547 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4e537623-79f0-4052-97bc-0d2e4b7c1661 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4c9373a3-60e3-4229-8c96-d20e9f798aa5 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:6a7833d6-548e-44b1-80f3-db3e9e413f54 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:14f87f8c-baca-4816-a2b6-9b8f5518dc49 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:4bc2f33b-9372-4da2-8666-f62ba49b2c70 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:fb7e940f-0089-4c3a-a210-b1bd759001a7 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e7618b67-8a88-4d33-9852-8523cc8c3457 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:23d661a5-7ed8-48f5-a0c9-e5e4f2bde0a5 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f776bd05-9d6d-4b28-b213-ce85b7b16702 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:6ce76095-ab99-4bdd-a6ec-6beea4812bc6 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:3908d7f8-c262-4a9d-8efd-f357e1b6a737 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:26541327 uuid:1ddcc436-fd9d-430b-aec9-3f8b544d8efd phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:5d58011e-e06f-411a-953b-ef7e7f152208 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:a73719a5-988c-4839-8ca4-fd3749e149cd phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:c8bc8b97-6d8a-4ec9-9abc-3ea745f61748 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:2c36e07f-972c-47cc-be15-ce7c75f7dfbf phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:a9924770-a87a-41cd-a6ae-2a3a03e433b7 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:7ffd03f9-fe8d-4d21-9190-9392efe18cbb phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:f418969f-6b9f-4807-88f6-7f18f5a35928 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:4d31c440-c449-4286-9a62-47df475506ea phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:401ca010-3342-4e18-bbff-00dad6f7098b phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:e6dd7fe2-ddc7-4475-827a-09280eac87d6 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28576691 uuid:674eaa0a-8b55-467d-9671-13ce9c2f03db phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:451ac9fc-9fbc-4588-940a-539e648ff141 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:7e772f47-c1b4-4cb1-8a2a-1915c0b43a84 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:d62001b1-feb8-4ba9-9b96-ac70aa005900 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:7ba577fe-aee9-46f6-909a-97cab9061d77 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:da618bcc-933b-4905-aeb9-47af0b7a6320 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:8770b609-825f-41e6-a81f-32cf34a4d29a phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:4f547181-cbd0-4f6f-8cec-ca1bf2dce573 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:b8bf3268-e3dc-4cc2-a633-15264cbc889f phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:9ef4ca63-112d-4f9b-b174-c37986860867 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:668295fe-3e20-4697-8ba3-d85df4d35999 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28576691 uuid:9dc01aaf-1cf7-48bd-bfed-28642f88e48d phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P2Y9M infores:phenopacket-store PMID:28576691 uuid:f16afb09-acf3-450d-a519-cb75146e0a52 phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28576691 uuid:b6c528e1-e502-4c9e-bb61-1dd993c3e643 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:4783dab1-7783-4bf7-a145-e9abacbea98a phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:436ab5ba-d2e4-4493-8bd3-1e9887a7aafc phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:dae17a64-f8a3-400b-ab2b-c7d63260fd47 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:5af34100-c43d-4e2b-9169-6b4a66419845 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:adc9cabf-c938-4f41-9c1e-3420161564b7 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:113a9384-6cae-41d7-932c-669ba5b0d780 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:30622725 uuid:f96a06cb-0c23-4a95-8d82-a5743053ff58 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:b7312933-8cd5-461d-86d0-e00db52e0309 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:d4c120d9-aa38-48bb-9f0d-e0a8536cf2bb phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:f33f4f18-bb17-4db4-a41f-bf355ee7ed6c phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:9d8420ea-a9e1-4003-a7cb-bf12eb983d73 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:222cc591-4ab1-4780-813a-7fa0c36eb8a3 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:034d89b6-df15-4430-ad7b-4feec7e32bb2 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30622725 uuid:358b6bae-384d-4db7-a3ec-8dd39ce0433b phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:241cf484-e8b4-4c0e-9bb8-876cc5cd222c phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:17ec1ead-9017-4bd5-9707-93cbf519ee51 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:76df96e7-1589-44e0-9030-1b742ecdace9 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:eff529af-bdee-41d7-b845-42f86b1f18e2 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:923dfcc3-ad1f-4192-bb06-50a4ebc57bd9 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:13fbed27-cf22-4abe-b558-b48b91374aeb phenopacket.store:NBAS.PMID_30622725_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30622725 uuid:21b93fb3-3f4e-41bf-907c-828ec6a0a871 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P3Y4M infores:phenopacket-store PMID:30622725 uuid:87ec258b-cade-40a7-a3fe-9d92bbd89831 phenopacket.store:NBAS.PMID_30622725_patient biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30622725 uuid:919f8a56-5425-4169-8fe3-a288045086b8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31761904 uuid:6c80cde2-f2e3-48b2-9ffc-192ea74f9c47 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ebdf1318-2a0d-46c9-924e-4988b566ca51 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:6ce33908-c73c-4e73-9abd-b62d6a3acbb9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0aa44950-1bf1-4d8f-96c2-cefa34a5cc96 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:f40fe644-d935-4501-8ccf-bb467301675f phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7b7edea6-230f-4387-8675-93922940c2ae phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:b61903ff-13e8-4b2d-954d-742b2f66f6e6 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:44e21d29-f28a-4df6-8361-5a147e265d35 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:05bd6f10-f1e9-4a68-8e13-a429050d3d25 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:8e0e5c8f-b28f-47b0-9782-ffbaef82c77a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:4ba0554c-62f1-41ac-bb4e-783cd3a96148 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:c43b270e-b7de-4dd6-a837-ce890c068da8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0271e5bf-ea39-4566-8198-5420636385cf phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0002756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:7723a894-aa4c-4d4d-9e76-c2d7a30b9aae phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:fe2a5220-6966-4285-9f3b-e7caad7146e8 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:393d1b52-671c-4740-aaf7-c9a2a2ffff3a phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3a60236f-4d16-4559-b783-39246ab9bcde phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:0b7e823f-b152-487e-ab49-1743b4b19fe4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:265728f2-a43f-4de5-a3a1-243266bf71d7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a2e779ce-33cc-4c7a-af61-19f8a96de671 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:ece590c6-5880-43c7-ac85-78120a23d8e9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:841d8f9f-ecfb-4069-abfa-87c5611648ae phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:1c8eb9ef-a695-4ca1-90b0-096fe205bfe4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:3984eda0-316d-423c-a66b-eea572e26a83 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:83ff1364-e7b9-4b8b-bda4-3133b0cb09d4 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:a950e862-78d2-4962-93c5-b7c88dce4320 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31761904 uuid:67d7509b-f742-4412-a038-bf3a2788eb23 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:92deb072-c3ed-4400-8f3f-a9714dd03d7e phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31761904 uuid:7c00ddc8-e262-4026-bd88-0af692fd743b phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:8330f74b-ccb5-446e-8a71-eede365a3272 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:11ab754f-088c-4d75-8738-76e25703b2fa phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:372a50b4-d11f-48dc-9c6a-bbcd45ef7717 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d9980b38-a545-41a2-8bd8-01ed5701435b phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:74576d61-d701-47f1-815d-604aa994d8e6 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:79031088-c90f-4ae2-905d-0ad8789a00a1 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:c01398ca-4f79-488b-9d3d-ba35242c8603 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:c6ed1962-a504-45c3-b16b-ecb2a9b8daa9 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:86894a2f-bf10-4de7-9639-3c8ab17f5e49 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:44694567-5e73-4029-9ffb-0fe9df78e07a phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:63f8db02-7e5f-4409-a891-88826199d5b9 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:54ebde53-ecf1-4f8c-adb8-dad9febdfde8 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:4a0306ab-fd1e-4ea1-a055-3245020614d8 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:8d6f3626-b182-4aab-b833-53a566b76760 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:55d54508-83ca-4fd0-8160-aa01a9a4786a phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:586f0bfc-9746-4f79-a2ca-a2fd1e3e02a4 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:02828740-0f32-4b1d-811b-4403cc2b1884 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y9M infores:phenopacket-store PMID:26541327 uuid:eb066be8-5a94-4bef-83bd-80605794ced8 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:567e692e-82d0-482d-bdb1-54d23dc71063 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:eb742a2f-8ee1-4474-8904-119d5bf53b14 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:bed061c8-44f9-4e46-b129-28b6dcd232e5 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9833d6f1-2169-4c30-a7ad-7f80e695a1e1 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a574511e-a8cf-42dd-bf9b-8a1ba0b9a444 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:6b339146-05bd-4de6-97ce-153e25f3ef59 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:75ec1a96-c6e5-4837-a86f-a4e98823d69a phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:346a0ecc-d0c9-4def-92f1-8aba0ab2a97e phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:59df4788-ca8f-4469-8934-dfca4c22d031 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:24c2c28a-ec6a-4be7-8647-1418d7d2075d phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:b170d3c3-9bbf-4f3a-a655-7d8101410b3b phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:863e7543-2dce-4017-87c9-6b62a7faac2d phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e0c8872b-4bdf-4dc5-a394-c7b1b42c69a6 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:2b2e9533-ec78-4202-8218-f2322bcc22cf phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:0aeaaff7-1956-40ea-a152-e63f1f7f63da phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:1eef2ea3-2e62-4060-80ad-6ff063ded1a1 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:62fcda48-fbc9-4662-8b98-884488346d54 phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:82310067-73c0-4603-9dc1-b4f109f5a94f phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:5a7b9a77-30a7-4141-ae5e-56d0c302497a phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:26541327 uuid:2383de37-1477-4a9d-8ff0-2667dc53499b phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:7b426df2-cf9d-437a-8380-76c143f76f64 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:714040ce-75ba-40a2-b451-2317cf25b7ca phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:4c952ba1-009d-4a61-af90-d08d93c59b9e phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:1dc23953-5e1c-40b6-a47b-71cee915759e phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:c6d482ab-cd14-4415-a61c-b1fdae50cea3 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:fcd636e0-e8ab-4558-a7d8-43b02382f162 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:84f1e94e-2955-4862-85c9-f88ccd2c2ce3 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:7c10cd37-2e69-44f2-a1a1-d1ffd61efcc9 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:e929f678-9856-4d25-8e0a-4813a46209db phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:c12671f3-bd0a-41a2-9016-a11cb96b7729 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:4ee7a700-035c-4fdd-9d22-237e6f82a339 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0003758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31015584 uuid:d45e4aea-3a2a-4ce5-91c9-ba30f01dd6f6 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:0600b918-2c6d-4a6d-b68d-5ca54312a5c8 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:cc3d1e77-5bdf-4149-bd66-756a0db96603 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31015584 uuid:7e25732c-65c0-405b-b911-67693e540f07 phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31015584 uuid:7c745d42-7de3-4682-ab63-2621ccb8860b phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31015584 uuid:e05e4e1a-a8ba-4eaf-abe1-8f3f8497f538 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9f37b0b6-a2c9-4d17-8fa8-9f0678cc37d3 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:2ec44146-b22e-4c1c-8278-bb741d5c0eb0 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:755fe292-d6ba-4624-97c3-e3f65f41505e phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:b9d07bb7-bbb1-4009-8d29-49a0a0d87192 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d2bbe279-02d7-4d75-bcf6-f161a031a735 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:b588950b-d414-435d-84e2-d9ebb73fbdc9 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d9d37a83-a9a8-45b1-9f53-4ae5c1481bd1 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:d96876c6-d44c-4f8f-a107-2f5d62178193 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:a48e51bf-1b0f-4d3f-9c21-6230196b9a80 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:46016124-20ed-42b4-ad41-aada8b0521cd phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:b9188724-6ba9-4571-a635-547f6a406a0c phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:f7985359-1ea5-45cf-a6b1-c08758a75655 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e8e6c6cf-84da-4b6b-ac74-2e2b7893ecb7 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:29859566-10a4-4fa7-a474-75873e445900 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:ce03b979-5d44-48eb-9265-35ec4d63e1e2 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:c5bf3ce2-af60-4198-bac2-9253fdd7c748 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:e9d03d3a-ccc3-4e8d-8314-af62f2e0f294 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:09115a0d-8f0c-4680-99f3-a2e9bc8980c5 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P6Y7M infores:phenopacket-store PMID:26541327 uuid:4e21348e-2d0d-4e90-8ca9-44ba705fb554 phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:197f0285-41a9-4adc-aa55-e27244f96e4f phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:901a22ba-eba5-44fd-9ae1-3d6f68a3b274 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:7d269e34-3a5d-42ea-b069-f3ea30a624a5 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:879a3145-9b06-4508-817f-3d8e8d0c5ae4 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:ce6e02df-ee7d-4f5b-b937-131164c8f403 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:702cf0b8-3083-4af6-8fb7-13d44ceb2c1f phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:876b4dd9-9095-4355-86f2-dfa4574f1864 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:7e455fb7-19be-4de0-bc7e-cbac5de00c8f phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:9cc9791c-139c-4605-a40a-8c218f95e2f7 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26541327 uuid:734a3fdf-55dd-4701-8c6d-8b5ec22e212a phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:39f21a1a-51aa-4d2d-b97b-4762ecc75df6 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:3d8b5236-1bb9-4b3b-8cf6-ddce63ee988b phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:823800f6-23c3-4157-bdaf-ef3885e7a0e0 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0011447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:87d79b52-0aad-42f3-a902-76d4daa2faf6 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:fb5cb763-827d-4e69-a982-b7cba94fd813 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0008462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:1f653c37-7f9a-49ba-8e13-449eaa15481f phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:a86702b3-8ae3-4a7e-8df6-518a1fcc94e6 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:47eafa7c-955a-455f-a637-4148324a68d4 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:6508380b-e950-4aea-9ff3-57c2413490b1 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26541327 uuid:9af7b8d8-6113-4f22-8303-c939c3214996 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:26541327 uuid:c1edbc74-1c97-4efa-ac89-fe9d721a2df2 phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26541327 uuid:74e8702b-b572-41e5-b14c-9902e7c79e2d phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28946922 uuid:ecfbb868-d459-437b-94dc-972ab31f60e5 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28946922 uuid:5e325ab1-886a-48ef-a7c3-77f57a761ae9 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28946922 uuid:064571e0-d35c-4c6a-bb3e-79f4c137b04d phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0006554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28946922 uuid:499f70a3-04a6-48a5-9600-6a7f9a2a13fe phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28946922 uuid:44e80553-45db-4495-839f-0ec9480b0498 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28946922 uuid:fe76d53b-742b-456d-bc7c-e5c1ba69fefa phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:04d77a08-2941-4b9f-911d-1714c2a52baa phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:90bb2e93-2255-4833-8425-f5dacba43ca5 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:d65cfd4d-0726-469a-bcb9-10f0218a3ab3 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:c933b93e-147e-4fc3-85e6-2d17bd9439f2 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:035d32d6-5c78-4a60-b1f3-3fe4627dbbf0 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:098f7cfc-b51a-4ddf-8137-44a3a3278325 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:2a300b58-987a-4133-a439-34f868da6b46 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:f3192c6e-35f0-4feb-ac7b-0cef905d0d3f phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:a1d6d27a-9abe-4dc6-ac47-153ca2714ff9 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:e080b6f8-23d2-4006-926e-5e9e335822d5 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:3afc9191-1b5e-4818-867a-aed69f5c380b phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:2bdbeea4-11a7-49a5-8465-569e662ca075 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:e7eae9f4-df73-4c4f-b536-a22a216e42b1 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:07373681-8d83-4afc-b771-22d14ae27700 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:2fd6c21e-f91a-49b8-b6d0-4332aa8548ed phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:3b4bbc49-7a3b-4301-a28c-6c78e84b9563 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:2386428f-1796-4f3b-a650-3fa6ae1420fa phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28946922 uuid:a0311eeb-a43c-43e0-a1ef-979a87e38802 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_disease OMIM:614800 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:28946922 uuid:3972d69a-69ac-4f1c-930e-ebdf291941e2 phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:has_gene HGNC:15625 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28946922 uuid:c8332b7d-e570-4378-8644-c85952b2137f phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:535c8d6c-ddcc-4cfb-98e3-da6017979954 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:c0c44e19-04a4-4944-956e-3a190d2aa49a phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:6e88b7f8-d1d5-47c3-9ec8-d80a6ff94623 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:8cce7f92-847f-446d-9c2b-49429e2c97b9 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:0d95d799-9393-4fb5-b5fc-321aab0b17f7 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:01d4cf87-3c07-46e7-b157-4ccb105e167d phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:262ab5d2-dd5b-41b1-a3af-668ddcbf92bf phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0002586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:3052599a-ad8a-4db3-8616-dd9585a9dd1a phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:0d63a2a2-3729-4e9f-b767-50c24b471190 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:0a8c21d3-e37b-453c-a7ff-13854f9fa0e6 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:0b7df9b1-bc4b-4fdf-824e-06ac2cfe2100 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:10498624 uuid:b8773ee0-f8ef-476f-affc-430eceecee58 phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:43b66c8b-579b-42ec-89ce-453238d10316 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:3d50d774-6f1a-4f3b-9401-66945a9431ac phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0025289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:778927e0-63dd-4e99-9fac-32bf1d16c173 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0034752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:5038d1ed-6cdd-48a8-afa2-65083b49281c phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:9da1752c-e757-4372-a4fd-bf8d2d0caa63 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:2f02a778-be22-490d-a506-334a0421ab91 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:1b048fa0-62e6-4168-ade5-a2f351ad32f4 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:50c242f6-3d01-4ffc-9f97-dd24274af0b4 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:3c8471be-8161-4cd8-8e59-6457ca6d31fa phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:64411097-3d69-4049-88af-99c272f58668 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:7045672b-cfa1-4e0f-8734-58752968bc63 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:f2deb30b-5b11-47d2-ad1c-969a79c6fa29 phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:72e82c94-230b-4ff2-9635-41880703c003 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0002722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:3810a363-3b9f-4460-b59c-a58bc075b10b phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:10498624 uuid:a74f9e68-ca78-4918-b219-9286e0b7747c phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0002586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:10498624 uuid:1c498df4-02ba-4b6f-9cd4-d88a6e2d7756 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0100721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:10498624 uuid:e275ea65-dd02-43d9-a222-65b4acc791d4 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0033608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:10498624 uuid:2e6a0b4e-cde2-4a1a-8765-e459af8322f0 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:cdc7631d-1262-4cad-a444-b43d83adda44 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:484d1edc-deb1-4efc-9b46-38557b7d0205 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:2c94fe64-80c1-47a1-9803-83db86f2f9e3 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:0528f54b-b9cd-4ccf-a19c-e9f5a6ad084a phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:d40e119b-af66-49be-aa07-2cea720dd98d phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:7917a059-6a11-49ce-9ab0-d1a8766ffe5f phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:4d435724-dbae-4ace-b18f-c310dad748fb phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:f1b80f5d-c47a-4bc8-a2c2-d5720939c563 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:10498624 uuid:50aa8634-152d-46ab-a041-bfd4deb1f525 phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:9f5364ef-776f-46d6-9d11-e84cd7e728e9 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:7795241 uuid:bdccd7c4-228a-40ae-82ae-7ed6fa9844d5 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:7795241 uuid:1da5230b-5fd9-476a-9187-523a21934880 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:7795241 uuid:fb8b09b2-44b6-4fdf-82fa-ba5263c71651 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:7795241 uuid:9dcdda1a-73e9-4e95-8df8-5ae386074e3d phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:7795241 uuid:11b5d105-1c3f-4445-9005-95127a4c4696 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7795241 uuid:9b0faae9-176b-41f3-8424-9e3fba9ab211 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7795241 uuid:dfcb85b8-079d-460e-b291-8feb57114cac phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0002586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7795241 uuid:e9c2a4fd-d837-4284-8ced-96d6f6cdff3d phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7795241 uuid:e4201261-66e6-4f83-b191-433d3432726e phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7795241 uuid:4fc7efd6-407e-4e2e-922c-0d0ef3dd0a52 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7795241 uuid:7221fbd1-c4f6-4111-89c7-3318e5628c88 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:7795241 uuid:d6c40139-e9de-464c-981f-f6f1c6785039 phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7795241 uuid:1fdbab20-8b9a-447d-a23b-b4775c4b81a9 phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:ab1fbe62-3051-42cd-b17b-144dfbb1506b phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:870cecb9-ace6-4697-b10d-10d101a61293 phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:bea9fff2-f2e7-46a6-b6ee-1753a8877c57 phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:9cbe66a6-edf1-40f7-a4b9-e24ee0d21cce phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:35bceb4b-de00-460f-b0fd-5ed48dd986f1 phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:09bd2c9c-7ff3-4c1d-8661-c001dc69bbb0 phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:bca17b2a-e133-4b69-9ba1-d1902d59299a phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:a72844bd-297c-4195-a07d-5d0f61411362 phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:10498624 uuid:3c271ed1-12c6-4eee-8ae6-d55efdb5e58e phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:19ce461c-85dc-4a14-8171-5675efbcd80d phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0002722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:10498624 uuid:0d24c702-4812-463a-8974-81d60e904ed6 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:787a497c-a579-41ae-904e-3611e3b6e1b8 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:17b5779c-bed9-48a3-a9ce-76df2f1d36ca phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:1ae7f555-53ca-424b-81a8-466e27099b24 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:1d4e4916-3de2-48d7-8963-8e7fdf352142 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:db83eda7-42a4-4235-82a5-81e2b350f650 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:74e42091-81d3-4784-81ca-3897d33b05d5 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:05cb755d-ef6f-4150-a151-6ff79322827f phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:d903e4da-88e1-4d7a-bf73-b592a1fd1446 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:10498624 uuid:1c7e8a0b-42f1-4a1b-b364-5188c3d87bc6 phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:aee9a94c-db71-4519-8ef2-d7c55813f733 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0002037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:10498624 uuid:2e7e9ba9-93e7-44fd-af2b-0c6f0b7482c4 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0002722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:aeb7dc52-33e5-4bab-a44f-d6e42470d098 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0003203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10498624 uuid:09892246-8116-457b-9c90-ec89c3501352 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:346c2683-86c8-43a5-8220-dee95d8570ae phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0100523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:5bb19819-e5e1-4af6-aa3f-0616dbc9ac7d phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0025044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:9696f91b-00ef-4d74-b3ac-6e40b5ac31fe phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:7bc93e41-e02e-4be3-b67e-4a334d6d09fb phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:b113c1ea-969d-4cd7-b5e0-a15264fe8917 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0002586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:5c578ba9-5bb7-40c3-aacc-1b4cbbb59f48 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0005406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:a85fc023-7af9-4128-a2fc-56cd37ba1c17 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:18bb17bb-c0ce-4044-b2d0-f769fb48010e phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10498624 uuid:492d1415-5a9d-4d25-ade5-828b0d0c297f phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_disease OMIM:233710 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:50f7be98-f687-4f39-8476-4417c3d739d6 phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:has_gene HGNC:7661 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10498624 uuid:f14e2f50-b544-4378-8ebf-f25cbda4c598 phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37598857 uuid:4f1805ae-6c04-4894-9d7d-1cedef31eac9 phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:746c1120-5312-460c-8544-24b5f40d1316 phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_phenotype HP:0000090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:f1074e3f-1ffc-4553-8b1f-d972a0dd22be phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:d15d5e9c-6309-476c-a8b2-8b6ce539e595 phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:92ed0808-d56e-4bc5-97ac-00ec9958a230 phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:e7480237-2d54-41c5-b755-dfda88dd7719 phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:37598857 uuid:9435323f-81e5-44ec-9d8d-c023f44fa52c phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:95322987-2c5a-45df-90f8-39ec65c2bd84 phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37598857 uuid:a4fed5d7-d8f2-4b3e-be2a-7f10a809a3e1 phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:56ecc8ae-300c-4963-b5aa-8f73544951b4 phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:f7a87a24-c008-4b16-aa6d-4e7cdfeee18f phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:117dd18c-3ade-4f9b-bf02-b9cf5bdd9fd2 phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:1c8f0a34-13d5-4d84-b7b7-cd1ec092a947 phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:0a93f176-0677-4a80-8a9d-f293eaad3a45 phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:7628b633-d73f-450e-b5b8-bc51ae4b93db phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:37598857 uuid:498acf28-3beb-4a5e-ace0-75df93d02cef phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:890fc528-6a9b-4910-b0d0-076f8b9373b3 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:d4497299-1820-4a22-a825-adf0b7f68841 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:89cc65cf-a3f1-4d4f-bc8a-fa58adafca29 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:9dd0b96e-18b1-4b26-8941-1a348a05be32 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:37598857 uuid:1af2d070-54e7-488b-a276-114e214b7747 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:4fcef1f6-c2e2-42e4-b6c0-65f1255bdd8e phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:37598857 uuid:ef191a23-60b8-46f2-8dca-15e0cf7f4048 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:a9cc9ec0-d431-4482-8ae1-0d267a50ae15 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:638dfc49-772f-44c1-89d1-42a0ef8ae9e1 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:306cbc5f-41dc-4255-bad0-e92212ba4621 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P43Y infores:phenopacket-store PMID:37598857 uuid:90f22538-71c6-4a8b-a764-ece71d1d3559 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:38620e92-2482-431f-b700-0b53cf436fc7 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:37598857 uuid:7aaad916-c826-4b67-bf80-0f73909c5308 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:5015a1b1-fac4-45a1-ae3a-1ba244d952c2 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:9bd34e18-653c-4ae2-85e9-ca0a29d0521b phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:af894887-3417-420a-9d9d-3d0e318541de phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:a2322f97-bade-484a-bbe8-3369c968f17c phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:f96c857b-202b-4602-b554-990cb609f7e6 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:74f1d61a-6c84-4870-b819-c730c6db2be7 phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37598857 uuid:f90a0973-bfe0-45fa-88ec-b31a686b356a phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:9f38e4de-ad98-4076-81a5-7a6b86fc2303 phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:c13e70fc-5bf0-4112-b1d1-4e5a7c6b8ff7 phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:12cf88a7-a162-4dd7-aa6e-9c4c7b26cdf7 phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:1829360d-3119-47a4-b431-d6eeadcbd1ab phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:9a687adb-c9a7-4595-960c-f55866cbb802 phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:0a40d17c-a9cc-4ef8-b70b-4f9ef33f47a2 phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:37598857 uuid:3a3c326d-0354-4fbb-9809-3c50954c2b08 phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:bb1518f2-d771-4d7f-bf79-ff17dfdc704e phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:fd503b0a-5263-47c0-85a3-0941a71f0510 phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:3c87b57e-8e1a-4b35-b12f-3fb8b615bdc0 phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:2a436af8-3ce5-4234-911a-dd7323de1853 phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:37598857 uuid:eee62ff4-452d-4a11-a214-177c17045194 phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:9e4ea3d0-e1da-4fae-af28-2e1af7e6bb36 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37598857 uuid:f213265a-aadd-467d-aa1d-e4ee504440df phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:e4126b6b-9220-486b-b4c2-8f7d3f31bd31 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:8c4ce0b9-e8ff-4069-82db-57e0e9d830a8 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:43d4f40b-c127-4dba-8d42-84e3a6f93325 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:e6a38ac8-3e0e-40a8-b2a3-c7a13ac6f837 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:642e9154-8709-48bf-85ea-9e9fccdf5e70 phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:fc09f896-35da-4c5f-b12e-8e9fb010504e phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:31897606-85ad-4fc9-9e0f-d003e5cc54a0 phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:cdadfa2c-cf4c-403a-abaf-20a5c8f6a300 phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:842fd455-9a09-4779-9b3c-ce786ff12db4 phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:776213eb-eccc-403e-93d7-167aec8ddd0f phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:da623870-e78a-4f86-9f5e-f0d7d0534ead phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:37598857 uuid:49699b49-5cb8-49c2-aa8f-c67c65924579 phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:714332ad-81d7-4580-aa76-b9fdd36671f0 phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:0e4e6d68-116f-47a0-b3ec-a86a1cfba2d0 phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_phenotype HP:0000090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:baa81283-c74c-43b8-be83-614581af818d phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:ac41e389-36e5-4843-879c-bce915d10f69 phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:896da924-4b9d-449e-9d55-dcff6910bfa7 phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:011043b5-d091-4da0-8a73-a2df14535f84 phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:37598857 uuid:a2bbc8db-9c80-4719-8ff3-7d1d0e2132dd phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:c82e5f28-c2f3-4da6-a2b9-f3e45aa7b839 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:37598857 uuid:28472f3e-1a64-48d0-b0fa-71ab41f63ceb phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:3e6abc3e-d3de-400a-9ebb-3449a5fee76b phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:15dc9274-366b-452c-ac9d-e456adfc029b phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:32a9452e-2d59-4bf3-8dff-df4176e0732f phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:b5fcd538-3cde-43b0-9183-56a3fe2945bb phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:37598857 uuid:084df49d-d3d8-4089-a40a-c7d52990b247 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:94997316-9aa0-4427-a35b-8be8e1c8600c phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P70Y infores:phenopacket-store PMID:37598857 uuid:dd8838e3-4068-4283-b235-0c8deb06647c phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:485da4b7-8572-470a-8e4b-f10fad747b15 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:668fa4cd-047b-49e6-9464-ac34ad0030d1 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:0e00fb96-2bdd-4ce1-94f3-26fa0da99a82 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:fcb2cc7c-700d-4b4c-b503-8a0a97c23e82 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P70Y infores:phenopacket-store PMID:37598857 uuid:2faf3b73-5929-4d24-84b2-c9ddf4bc2c14 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:30449f4d-9f0b-43cf-b1e3-ed7763264308 phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:36215968 uuid:90fdb5fb-dba0-48a4-94a5-ac0c1f9e8336 phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:36215968 uuid:5c9d55ad-97e2-49fa-ace2-402c43e00f8e phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:36215968 uuid:8ce0fc43-cd1b-46ff-b1fb-9c24f1b6fd00 phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:36215968 uuid:c72b1a89-ee39-41e5-a7af-820fd79e839a phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:36215968 uuid:7feae2fd-aa93-4ce4-830b-dcd6a026e676 phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36215968 uuid:f7001e00-3c7d-4e26-b93a-80895676b0db phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0000090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36215968 uuid:017d3a31-f69d-4d39-a8df-192346fb8d21 phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36215968 uuid:53cb944c-bed6-496a-9413-56882b0fa39b phenopacket.store:NEK8.PMID_36215968_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36215968 uuid:24143b32-29e2-4608-a617-5bb1992087ba phenopacket.store:NEK8.PMID_36215968_patient biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:36215968 uuid:bffa0d9d-abc0-4ecb-89e8-96e6c04436e9 phenopacket.store:NEK8.PMID_36215968_patient biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36215968 uuid:d33d7725-76e8-4a05-a0fe-99c90eee00e6 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:35bfa1bf-7d07-40e7-a3f2-a189adcb9a29 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:6fc8e73c-d2e4-4b64-b70c-6cea9b70988d phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:70e660e7-d2ed-48b8-a2ac-41218245520d phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:4507a13c-7375-4f44-8061-ba8b29db317c phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:37598857 uuid:3e6d9a7d-deb7-4785-8218-3e740917a6cc phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:56d9d080-4385-4887-8466-63e7984dfe06 phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:37598857 uuid:ac9ce759-ab46-4ed7-8044-5a3f5ff58954 phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:c26c2630-8878-4d5e-841a-d87ba146fd2e phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:d570645c-f7ec-467a-8fa5-8f16d0281945 phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:6caeede3-6563-4b67-b906-5c6342b93685 phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:e14fe1e5-3cbb-4075-b766-fff8a759bb29 phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:37598857 uuid:eb27254e-a2fc-479f-ae21-676bd4ad42f2 phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:9bca0c12-9d68-481a-aa11-adef15368a97 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:37598857 uuid:01f46cb1-d552-4c0b-8dcb-134b9767b624 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:7178a040-7e55-4954-a813-16b964d3db33 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:4e7a8cb6-5196-4fe8-9196-b6338ab3729d phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:1344ce25-1983-4d9b-8a51-d0ca07e35d20 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:984a5251-6897-4071-be41-e2a6127cd5b4 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:37598857 uuid:fd970cf8-a478-4240-90c1-77d9bcc98e89 phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:9f07c420-82a8-442b-b000-a3b1996314e9 phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:37598857 uuid:381447e1-2d26-4285-bb98-f566f487cfe1 phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:21db3f0a-6217-4799-9591-29f8d513dceb phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:67dda3f0-ef54-46d8-9268-7ee13cc94bee phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:1a3d4a4b-637b-4608-a4c5-b63682308072 phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:0f4eba52-c565-4eac-bfd9-d5a0dd80581b phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:5d1b7a6c-19bc-4b68-a1e2-4d5a0df96263 phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37598857 uuid:b1c5ff1b-72f2-4b70-aa18-31c6d233c083 phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:2d24306c-e3f0-4e39-bd43-037046bd12b3 phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37598857 uuid:9a42bfdc-63b4-4a94-b4f8-57029a4104da phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:ecf1ba54-ad78-4389-b89b-917d9b333ce8 phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:cc732704-6453-436e-a1df-622e69ac43c1 phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:deea4a25-d1a2-4597-81f7-eb952e6253ff phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:b873840a-aa02-4c79-803f-49123abf41e4 phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:999e156a-29ac-4e9f-9d90-6d6713b7fd28 phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:c17a80f0-e01a-462f-a0ef-6451b14a3e67 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:939d24d4-e22d-4413-be9f-669c26b9b99f phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:68de1e4d-9fd5-4497-a772-3c8d834601b5 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:16db1ff2-a0df-42e2-a260-c8711c19df31 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:6e84fe72-f2bc-4d74-9433-81fc94a3723e phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:37598857 uuid:9346f08b-aea1-433e-9c31-edc6718d3aa6 phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:4ec8a8b6-38a3-45c4-bab1-8892c7fc2372 phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37598857 uuid:d1450871-2a2d-4991-9610-11d00e1235a0 phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_phenotype HP:0000105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:a539d349-cc2b-403d-aae2-f80b9ce3baa3 phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:c8dd882d-2ca1-4ab1-8878-89d084b17cee phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37598857 uuid:c99abffc-dbda-4c89-9357-afdd52834c48 phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:5f0e05fc-e14d-4cc8-b2fb-9d288dad41c9 phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37598857 uuid:232c0da9-4f63-4c0d-a8e7-d2cba9b60bfe phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_disease OMIM:620903 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:757b2acf-1d21-492b-a637-a57012eb2976 phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:has_gene HGNC:13387 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37598857 uuid:129b5aa5-dbbe-403a-a182-d43038c0bfee phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:c972a24d-c8a9-465f-a0e3-4d46e61e4329 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b737631c-a4d2-474e-848c-1a62096ae0d8 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c37f9333-a71d-4dbb-b216-bf3eccd0f7d4 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8f5dd058-eaff-4a0f-9335-28fff9dd9163 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9e8249c7-b730-4f41-aaf8-b3ea5f46bfab phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:bb05c89a-c917-4610-828d-8670021c4810 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:840d9c0b-1906-49e7-868e-6c828f9f8b1c phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:83f3dff2-4a39-4db1-b7cf-be29d7f6f8a8 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:b2e0efff-bd9d-4f71-83c0-ccfb8e3caf99 phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:bda06014-0978-49e2-b59e-a6ce485e9efd phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c1803ee7-0133-41b5-b56f-89cf723b6eb9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:225d0adf-04c4-43f2-ba19-e6c94e7a20a3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:98df22a1-0236-4764-b481-d38f6f9259f8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:681db180-cc81-449d-8417-2771d6cb3329 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee0acc5f-6e9a-4569-859b-77905e11826e phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a421e7d4-9e6e-4697-a72e-8354326614f1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7438183f-0066-4198-9545-4e7ba2a2f757 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f6896ec5-21b3-4b22-8044-fef48f1d105c phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bdffbc82-5ffb-4a72-932a-71ecaa53ca8c phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:729515a7-e3b6-4dd2-907b-9c875a3e85fa phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d870df77-b8fd-4d84-86ff-5b952a07e9bc phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:baf67945-ab8a-4506-8524-9a289c0ca519 phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:98489c43-3c9c-4d27-b381-f36f15f3ecf3 phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:91fcdee9-6ced-4b21-90f5-7042a7e894a8 phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1c00a7b2-b12c-4127-bf86-cb892a2cb0c6 phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ca88d5e9-59b1-4019-9398-f38c41238be3 phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:83a7f626-371a-4f47-85e7-123feb2c5cef phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:f5e37ac4-44ac-46fd-8d85-c6f1c79f146e phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:01206866-e6af-4fef-9164-8022723b08fd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a46de1b0-a2b6-40e3-8278-688180d0c037 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c8747b17-145f-424b-b143-748bfd05b20b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:399d3bb9-79c1-4bdb-9ff1-d6998018fb4d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1f665c7c-be63-4f0d-b340-d25b0472b740 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a751c6a9-f610-4d3d-99b7-a8de276c26f0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5eb0def3-a43f-4678-9763-d5e7a8aa2138 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:355a8207-8fcb-442d-9c8e-019ceeecec3e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66ed1f03-3212-45fe-b3fe-f5d78067423a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ec015b7-21ea-4f9e-8e56-e28fe4cdd6fe phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d97b20f-07d3-498f-a617-f86bc477a3fd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8798f97f-9218-4898-b586-39a436349cf9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d63f971-bb25-4ef7-8a3d-8f1de6dd6616 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e4b906b2-ef53-4123-af67-e77e37e9d17a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b0875d36-d09c-4640-a137-82d097607604 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c2430d3-6544-4054-9296-07775f1db9ac phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cb04cd5b-359a-496e-9680-906e40addda3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dca71e01-5b04-4c20-8504-bf7e00a4ecd6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a7988f3d-0e78-43f2-b8f6-60a7a77fe3e2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:35c4efbd-aa0a-4555-b0ef-ae1bf129300c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8ba4461a-04ab-41eb-a3bf-771a1058bd93 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7ea726e1-774f-4ec5-a18b-8282729a5ec9 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1d276b8c-1272-41db-bd1d-0b1b5f1ea783 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:79f79c9d-9299-4b94-aa18-e66e10003f46 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ecd228b9-1e82-4756-a75a-29404e5c9a9f phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:09f3bf72-25ad-4464-a6ff-0d3a2ac4fee1 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d987e1c1-368b-47ae-af99-6d453837124d phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:56b85a42-38ab-4cd9-a548-031ba68d45d0 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:21bb43ae-81ba-4e32-bdd3-0aeda3582fd9 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7f9a58c0-ced5-4a25-addc-073a286d0674 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0b9a23d2-7d48-4ab6-9af3-e2434392cd72 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:905a7e3a-0434-46a6-a226-3602135b0a19 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:025e3d5a-5669-4aa6-9c3c-ff4e6a4e69b3 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:25923413-a234-4dad-b85b-b1571cc62fa6 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c374cba-0935-4084-91c1-e32cbe3adde2 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e22c03f4-be17-41b7-acd7-ba12e8b82331 phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:64886511-4419-4cd1-87dc-d31a2f011ee9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d173ea18-7e1c-4f17-b2fa-a51f60218559 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:968ecc2b-7728-49e5-a0ba-265031b568fd phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6b110276-0a1e-4b43-b9a2-623cc34846ca phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ade5b2d4-7fe7-425f-97ae-5469eac5f5aa phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:31796f2f-176c-452e-bb7b-8ff82b19c88b phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:767078fa-8a38-42d9-b737-f08a6175153b phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:365ea5a9-7daa-4961-91ba-1b5f0ead66da phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a459d50e-b692-467b-81e8-2f13f0012717 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b635ae7c-d0d3-40cf-b4b5-88f0ec16e172 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:13e7ad08-40ff-4d33-9e55-e0b7a26c1280 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:497e5171-33fa-4749-8a70-751eb1aecdf5 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aed118d5-7624-4064-9b29-2fedd9487056 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a64e112-97e3-49d4-939a-38362dc77e1d phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1af4c569-4ccb-4816-9f5e-82ecd7492c36 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f5422e63-5d55-443f-b879-23ff0b488f99 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:00b13857-bb9d-492b-af4f-a194bf9ebaaa phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4db89b1d-490a-46c8-8afd-a0a6819a0045 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:73de9dba-01fd-4953-89c6-98a193a47897 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1b1484b-b68c-4dd4-876a-972ae29f8b86 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f59e0984-1b9c-4d9a-a012-18a2d6eb8f27 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ed51773-92af-4b53-a81f-c9b8da715f28 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b4b0421b-957d-4d64-82ab-f78e16b046ef phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:51fd98d1-79d8-4bc0-bb51-a7fb0c351891 phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2d53db5c-712b-4088-b1ef-8b3793dc257b phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:dec6948d-5479-4bca-aabc-858b67a6412f phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:2927f66c-2f1e-4ffd-be47-f177bf907988 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:1a7e3a22-03a7-4631-a6dc-1729ab122612 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:0b5f9294-f956-4a44-ab6b-30e9f5772f1a phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:27f374b9-38b8-4620-ae32-72c717eec368 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:8af8c4ec-41ea-405a-9b77-eacd3512455e phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:5a181f59-8041-4fc0-b459-2f5d51457d37 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:96cd0e71-339e-497b-b3a4-4ac66bb2eedf phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:f8e46742-8f02-44f5-a3d3-c3ad85255c9a phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:37413bb1-272a-4771-af77-1e53f257a17e phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:918e9593-3efa-4722-908e-6467dd063fc5 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:b3fac07c-4e21-4bf9-80cc-67bfaaeb0ffd phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:1c7516fd-9d25-4c62-96df-ca1e0f60e38a phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:a5234986-e2a7-4c4e-a40c-95dfc1d7ab27 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:2af0bb84-38fb-4aac-bbe3-fcfff01be313 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:5de815d8-6227-4103-88f3-4340b6bf695b phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8664912 uuid:90743bab-3af9-4eb7-b8d3-8889778a6c1c phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8664912 uuid:ac659515-e113-4c68-b613-a787ce04746e phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dd8ea877-f782-452f-b14c-07b23ea5e987 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:66d39efa-dce6-44dc-a4f1-d4a27eed2c8c phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f35d18f9-b8b8-4d87-ac26-b36aa3a3294a phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8da343b3-1810-41a5-afd4-1c88f0687ea1 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b12f7305-d850-4fc9-8a1a-f9e03913e743 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cea680f9-24e8-49f0-9eb9-91f2a8f60e0f phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f15723cd-1859-4567-bc12-9e0a2d0777eb phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:055571f2-12cb-4cbc-983f-4489395ed2c7 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:43b6b369-b960-428a-87c8-fef3e4c7109a phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab9d741d-b114-416d-a8a2-dc19be90db46 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78ee2b4e-495c-41fe-ad1f-80a4556abe15 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b4b909b2-2702-4a51-8c2b-e8032381d3c0 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:01d38169-73f9-4941-922c-223645cb6adb phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dd247b52-4a72-4ded-b8e5-35a817a91a9d phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:62c94b68-903c-479e-ba92-6f143d776190 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ccdb281-79f6-4c49-9dd1-776aac6f8ac3 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97490758-ee2e-4222-9bce-8f9c05ac468b phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:130d55a8-70af-4f81-8bb8-01b9ffcf9462 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f5aa097b-d6ab-447d-a25b-339617514a13 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5919e99d-7d32-4c44-9242-decd9352c230 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f2c7d409-a22e-4c86-bf15-1697b74fc16b phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b37e1b8e-d099-453f-9cff-8dd6fd7e00eb phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:21cb7fed-4b9a-4ca5-94d4-e67c1fb1aa67 phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:96d65e17-42d6-41fb-b0d7-efba799d9c48 phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:2888e5db-2db1-45c0-9352-2f27413836ca phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:50fdeb03-c2ae-4cd4-b74e-2c02253e6e47 phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:51150f81-9dd3-4b77-898c-bd4230d588a0 phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:902ec942-4ab7-41cd-89b6-a34bdc704301 phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:40fe3c29-4d92-4a56-87d8-af1df63bfd8c phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e1138680-3e94-40c7-a044-72d404bc1b61 phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:fba3a145-1dc7-43b9-b92e-6f66c39bd1ec phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:d215f4c3-2710-4a5e-967b-69b8cf10e989 phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:5e0e78f1-32f1-4014-9669-c017ededea9a phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:f9d4be95-f241-41e8-8867-7608154472fa phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:d0d8b5d1-2c8a-4111-b40d-c1388c318c97 phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:35a953fe-f233-4160-94ae-804ebea552ea phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:562328c3-7440-4978-a686-53f46bd79d58 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f4c743a5-6898-402c-81a8-734f70de48d8 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b4a20ac2-965f-4859-b9ed-9d6e7d463481 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:938cda01-30e4-488d-aad0-3827df3c649d phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b7376ee9-0b2e-4f91-9a3b-17a1fe96a133 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1803b0d9-daf9-4d59-905e-287a5cc89e88 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e1bb97d-d533-446c-8382-5257ee322f9b phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e65ccf90-ee3d-488a-bb32-4c5b7fd4b3c7 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:97023a4b-0406-4b34-ac27-365ec5d740dd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:00363338-e66e-4771-9239-772d720e4d80 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c24722cd-1a9d-4318-99ac-00e712524201 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ae1d0989-85d9-4eb8-aac2-515f85224834 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4087561-8f10-4990-a4d8-fac506f29374 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1eb37e7e-ea8e-40e4-873f-625776c09e69 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f8e048a7-5974-49fa-9e59-b6a1ef720835 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5e7d9da9-2a3d-4bb4-9654-c264bea80c52 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:155c8213-2c1a-4d5d-a1b3-0ef6446e8140 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:09f0d9f3-1779-43fe-81df-d9592ede9bcc phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3d79f000-4f60-4649-b189-dea7ce5862bd phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e7234ad2-3605-49bc-8632-f88112ff2f2e phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d07b3353-630d-4ab0-b432-66562c203623 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:319b9534-67dc-4145-ac56-915cce1c8a5d phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:500a05e9-965c-4193-abda-91e895729ce0 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e489f950-4c16-42d5-830c-0748ea4acb3c phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c41961a9-27c1-4770-9e56-f5c077a8d939 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:57a1c95e-9f75-4d57-a9bc-a9db33f9045b phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0af763d4-4d49-4b50-9796-c41d463891ae phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fa5940a4-f9f2-4cc6-b565-084c89cb5f9c phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:eb5a6100-d26f-4717-82a7-152057aecfc0 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:23a95202-3dd7-4c33-b23f-681779ba06f4 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:08249d31-48d6-4929-af89-3f4a45fc4878 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1f806be6-fe86-43dd-8ec5-8282a0d8f8fb phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:7e5fced0-536d-4be2-b241-483cc25a2c6e phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:908aa2bf-768d-4065-b991-5bed0b779dc0 phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:7fdb9682-07d2-428d-9e4c-b759bced0c2f phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:df134a10-5654-4854-b549-93695d117086 phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:f1bd13cf-456e-4f66-886b-78cb32d8b405 phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:11a75b19-cc72-442a-866f-aff01878f19e phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:28ea5293-9f73-45cd-9d77-e60fd0603bae phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b4822a34-3588-433a-9d7f-4500c903586b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6a69b2a9-d1c9-4328-aded-3ddf83028ce6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c9714fef-f781-4ffa-b9e3-a11e0180db99 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:56fe25e0-8975-4e2a-b6a4-cec5c6f3a61c phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7b61ac1-5534-4279-9201-9dd20a92bd15 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b64736ff-5fd5-4c58-804e-864824525223 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:17c2077f-765e-4880-b02f-afdb68762ae3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d6316cb-23ad-40e9-8f51-2ef62198393e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f5586074-1cff-4900-8f85-aa0d0b8755c7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9ee0d1e4-ec11-4d44-9cb8-15b8d274e2ad phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f2d8fae-54cb-41c4-bfc5-1ee5665e6291 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b78194de-dcdd-493e-969b-f50724e2aae5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:716ae395-73a4-4716-8f7d-284532c3ae20 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7b0a79ed-6ee3-40e3-9743-0d69d0a6a278 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:27c51d81-e9f9-44b1-b5ba-69e1e31e4169 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b133a559-167a-4fe7-8e28-10c5c3cc138b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28ec1bd1-8dd1-4aa1-9139-9f9825f5a019 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f194ebe-f0da-4aea-a3fc-2721bd0d45c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7de373a8-fd1c-4e41-8384-f0cf7814635a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a7b8d44f-45db-4a4e-8472-e622127c62f4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c20475d8-5c1f-4986-a061-dd765f06b317 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:340ad47d-ba62-4f5f-9440-d4400e6c5a53 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a75c5ac3-7315-43e0-af9c-7b021126b6cc phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:32ed2895-fb21-48a3-b232-aae1227274b3 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bf5c6a0c-efc2-4c56-a4b1-cf2c47866ac1 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f1562820-83dd-4508-b96b-adff3659c370 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95d70e78-1c05-4cdf-bade-de966d745f71 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d475af1d-1880-4c26-9f62-39b3447989d3 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a43f61e2-d719-48de-bd2a-7eec3b930988 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2c76f96c-3cf9-4e5e-90a3-0b1e47a6ac93 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:07d48e96-6ae0-4467-9459-a73634cdb681 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49d55227-3db0-4048-89d2-505f7a7dd6dc phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e93c2a89-d80d-4d18-802a-364af345a478 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:31269ffc-f3c8-439a-9d3a-a9f8f7fc6a5e phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:239cd8a5-7a73-4621-845f-f2af3adee31b phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:08216a70-08d8-48ff-9912-572fd1e23a9d phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5b9b427f-afb8-48c0-8e6e-6d217ccbcab4 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0791fe21-c46c-4657-9fc5-975b337f31d0 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:428e5e60-06e3-4153-8ece-a4fc21029344 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c98f290d-0ce2-4bfb-ad84-d0fc76365f0d phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ad6aa539-6e04-4562-88e3-ffe4328dec1e phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b932d883-7049-4da2-bf61-8a29b760a039 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ee02e0e-9774-475d-898a-5ab5cd7c1c54 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3473d98-d402-4abf-b80e-d02ab28d4944 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d7d6c73f-83a7-4953-b967-5f911e676efc phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b594b063-848d-4a80-ba44-99ac9d27eef2 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d1f261d-0f11-4a0f-aaf0-9a59f55d2d96 phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e01fe52c-5944-4c04-bfa4-6ab521037baa phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7a84afd0-f4a7-4394-b4b1-1cdd3664a904 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7c3ce960-5c0a-4c15-a299-f3d4d91b9b50 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:79661097-21ac-4108-b841-cf0f3bbddf73 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:dba5d122-714e-44a3-9f2a-e518ba58098f phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:53d3b3c7-bbb3-445d-a1b3-9dc94ce2bd36 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7ec29819-3d36-4da5-831e-2048b1178524 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:868d4ec5-1c3b-477b-96db-55a0147b034c phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2160da53-0f24-4be3-8a2e-4f64da16500d phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ef6eeaea-562c-4e2d-88ec-19c6a4e24205 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:b68b2d95-04d9-4b6c-a96c-5ad778827c10 phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:0e6bb032-e88b-4c31-a901-d478d54b4946 phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:53c78549-091d-41fa-acc8-ba4f985247be phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8ce3bd73-d896-455e-b4f6-1e637fa187eb phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:49737de7-96be-4196-8c92-fb75b61646be phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:57b0899c-94d7-4f39-8ee3-b05bc85b7a79 phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:6aaf1e9b-a5e7-4c61-b683-cb3d5043b3c2 phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:a8298446-9be7-4fb4-81e6-3749aefadfbe phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:0cf73306-2376-4c4d-b804-2ef150a3cb3f phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:0456587a-61c7-475b-8974-f47bd6346e2e phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:ae57cd28-38f4-4fe8-8ddd-65b50e97cdb8 phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:870a61f2-bfb5-44fc-9957-b584c27e455b phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d37df745-e3e4-4766-8e8f-b4cd5413de89 phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2bc08c6f-8b25-47ed-8149-2ed78c84c884 phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a46dfdbc-d00e-4c51-9875-42ca670956c3 phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7d2f1c29-fe9b-4588-8e3f-d7eb7a76ceda phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:5f7e1489-6b02-4e0b-8f5e-1010928c2061 phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:5718f1cc-ef4e-4a8d-a852-679fe77042c2 phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:720a682e-ebe5-4abe-98fa-9e25b3fc53ef phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cc458f04-d34c-4108-84e8-f85e27c476c9 phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c14b6c77-4235-4f04-97ab-84ba9d9974ba phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b51308f8-e1c7-4e02-af5c-3ac8002b7d3e phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2a7d216f-a709-45f4-8c38-f0dd7b3a343b phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6f7e7cef-0eb7-4b2e-bdfd-630824e9d53c phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:223595dd-f75d-4cd4-b509-1d65187134f2 phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b29f3c65-4005-4bf7-b037-745f4d46870c phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:36a6d9c9-50ac-4037-954b-a2156c654f58 phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:323c21e5-0bcc-495f-a9a1-3cbd3b9ebc3b phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3250fe09-898c-4060-a6b4-96b228d55d75 phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6e8b6cd2-d248-4c54-b56a-12a480b471e2 phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:4eb38319-fc03-480c-bcfd-2fdff179a389 phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:1a043304-6094-4f48-bf9a-6bf5afb9b978 phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:859bf5b1-33f9-4a23-aa36-2efcf0f85a7c phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:1bb346ce-ea05-4b57-8818-7edb8d5b2147 phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c2c3d2c0-724b-4a61-a484-b0efec58d7d1 phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e2037c1b-ed7f-49ea-bd22-55691b5f5375 phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:5e6e8f68-0b7e-4657-95f6-66fb02815729 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:64ec8c43-64b1-4755-a48d-ed8865d7ebfc phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d2a35ec8-5bc9-4cd5-98ec-fd2c3484f200 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:500cffb6-8f9f-4636-998f-84fc19e1215e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a456e7d9-71f6-44cb-b690-29983312e077 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e014620-c9c8-4748-8d31-c68558406739 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2b35ecbc-e2d4-48b4-a25b-ab49e76fce99 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9cbb203d-8222-499a-8306-f337be1a893e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d02f1b23-86e2-4d8c-b783-2bfde6f1a10f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cacc094-ab1b-4157-ab5d-683e514dc189 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2ed09a18-d79e-441e-9c4a-b52d041b3b1a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f399567-ee35-43f2-909c-af75a56285ac phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e623dde0-357a-4b53-9872-430d16824612 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:628f8b3b-7e01-4e2e-b353-f3d8d68a73c1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5fe6cf88-5c96-4595-93e4-4d6341b2f683 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:86e254a5-79c4-4f93-963d-7fc61ee8a5e8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ee39f688-2246-44e9-824e-b71c0c46d2a1 phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1f0ffe52-30be-4de9-965f-e16881bbe365 phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:9261b405-aa76-471d-9371-d59383f85793 phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:5c8c29a5-d4ba-42e1-acc4-0584d60fca3f phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:de6558f5-ee00-4b41-a527-8f2a7b7ee1f8 phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:0479095e-da80-444c-9924-21fcfa6f9a97 phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:ee18857c-47e4-4be3-8d5b-3b45f79983ac phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:3f15737f-8306-4296-866f-b55a920d195f phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:71f79083-ce63-4bbf-9315-9b581c51e2c5 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8230af4e-292d-44b1-bac7-c99637453d38 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:14df9c5a-08a9-4bd2-8c7b-7bed2ecc60a0 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ecca0f70-8f6f-4ae1-9fae-d9f4ae83b88a phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:406cab5c-d840-4155-9686-fd67391c05b7 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:89288922-0f47-4dab-beae-36a6d5f83bdb phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6d1336f8-945d-4898-ac15-be611b8071c3 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c574a201-71c2-4c20-bead-a8da5ad67b3d phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7a949b3a-bb12-4e25-a02d-36402a85623c phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:338733dd-c635-4262-aa72-3f81ae0ef63d phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:2abf5e4e-2a94-4f4f-a386-dd650a820135 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3f8b46db-402c-4a0a-a5d5-28e3f2948a22 phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f24ee07c-8406-4156-9a9f-5f46555600ad phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e98bdfdb-1ca0-4de8-83f4-235ab83d287e phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:db8e8109-99e3-42b8-bcd0-547f9dff18dd phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:03367c49-c75b-4e1a-adf6-3854d961f9ea phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:10ff8197-437a-41df-92f7-c0398b31f29f phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0889a09f-0e22-486a-b730-3e95e3d969d7 phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4264fa37-4d2d-4216-a95b-cca6fc0233c5 phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1456e91f-79ca-4686-9694-c6eb07a17ca0 phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a4fe057c-e212-4b99-b845-d2f60ef823e3 phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e63878b2-ae63-4ad3-90b2-c04f6e368503 phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:21f33b18-43eb-411a-b0b2-ac070eab0d3b phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:006780c9-7edf-4509-8ba2-afb43cf18d86 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:665ffa2e-10e4-4a25-b3b6-1bcbc6b806f2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ba4a96f-3416-4565-882b-4a0e921937c7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7935a459-704c-4a20-b73d-936eb5d69f83 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f23a4d5c-5055-4af5-840f-3dd08f0fbdcb phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0bf2f920-ead3-4969-8f02-0bf08c3c8061 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:acb9c51e-ab03-41be-b1c6-03b3ab7e4b6b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5dceba97-78b1-4a66-b302-47d55ccca95e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91e03c87-d502-48b0-bd11-672e3c24570b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e4e6f9c0-ac36-406d-9243-b6d20a9e833a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d75a9b4-1110-4308-8a0f-2f130590378a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a492fd5a-bbab-4079-8f89-bf0cb1a44c82 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3eb9bc27-3bf4-4ec5-9343-5cced15f8e7f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78b4afd2-2d62-4146-9fb3-fb61ce25fb4f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e35d9e7d-b49a-42b3-887d-f9d9b0970f2f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ce0f2f8-352a-4dc7-8256-c67a4ac3b07b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ff20a31e-1524-4968-aba7-1fd5c45706bf phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9feba1a6-15ff-415b-bf83-d8de883252ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0eb51794-3544-46a0-a437-f21a12541e09 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0021f886-56b6-4efa-be1f-742f8dbca2b6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b446554-59c8-4291-bf5b-1f74b4ebbcde phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f5c74797-7e85-4a5e-b90d-87fc49870f1a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:af9ad0dc-9541-4f77-ae7b-4e5d3fc21fa7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e93761f3-78bb-4f7c-96ae-d34fe7383732 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6deedafb-a9c5-490f-8335-fb286bf68bae phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4f667e4f-942c-4b10-869b-bfcf45f503a0 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:21499785-32cf-4731-819f-738915f54da2 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9ee47ce6-aaec-49cb-b2d2-70b2635509d8 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c73a8b28-2307-4ef6-b7f0-ce83633ea5e7 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2653b330-6075-4af9-851c-c4c6bbb094d4 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9cbad1bd-3667-43e7-a97b-627985ce9072 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:641d7803-f3ce-4fa9-b300-3609f6b1587a phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:46404ac2-86a8-49a6-ad24-965766ce78be phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:71eee8f3-27df-4eb8-9b76-279b996ba8d6 phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:59fc4537-b4f0-48ae-8888-2a86cb14f6b9 phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:ff03e232-0edc-488d-9a6e-0a0c8d7ecca4 phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:4bdee258-73b2-4068-b3bd-1c87e3256a5f phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8e6b1a3f-0d0a-4b20-a2ae-9a0dfc12f611 phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:e18e8aad-d46e-4c8e-a30f-1bb1e2ad6552 phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2f0ffe82-a8f2-4132-8460-a5497711b04b phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:63798d35-b2fd-4241-a4df-86e9c49c5659 phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:2b26224e-64d0-47c7-bdda-9d6154b7fef7 phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:ee2c81f0-57b8-4798-ae9d-318d41738cb5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:43043894-87e9-432f-870b-1084225df1bf phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c3687fd4-d06d-4b6b-bba1-4e6b3239e7ea phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e4ea188a-0ab6-4933-b98c-d8281213731e phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1a7ffd9c-db26-4b9b-be58-29d7534f2ce5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce60757b-0423-47ce-adb9-58c4d845d6ae phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cb2b8381-1c33-49fd-964b-70d4f457fc9a phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b05bbefb-fae5-4a3f-9075-f9c53fd05854 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6fb8e27d-3277-44d6-8223-bec65cc2c6af phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1b22808b-1f9d-441c-8ffb-93aec9b4cb93 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d150d74c-a8c9-4144-961c-227722105d79 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:240fcc41-a53c-4b72-b6e6-4f4532d670e1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:46fb51ff-9ee3-47d0-9169-ed674fe82610 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14167938-5b20-4403-a990-5c6c0a2077d8 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14223afc-9df8-44e6-997b-fbae24b29747 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a7c297f6-b6ee-4b5c-942c-fb79a9465cc4 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:872a33a5-6828-47ac-a59f-48d7f62d9835 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d4f78f22-cc64-4132-acd3-5f6f163390e3 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:93e68237-736f-4bc4-b7bd-be5fa8ce791b phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2901230d-19a9-452c-9851-c559b4bba6e7 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:44eb2a71-9fc1-4440-9f90-717d92f1a552 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4f2394b2-97f1-4ae0-af67-12fffec82fe3 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b91b959-3c4b-4ced-9b19-e505f30ec71f phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a0cafbf6-85a8-4179-8ef4-1d7c24c64764 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:08800a7a-9aff-43d8-9e4b-ebb6b5283ce2 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ea6b569e-4046-4fdb-b821-19c4fe1f591c phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:83862622-7a45-4665-9cf1-c89bba88ac5b phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d8e4b912-84ba-4133-a6f9-ba5d50365944 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:68c4719c-0c78-4125-9e52-dd7f1817ea1e phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0afc8928-1327-4e32-ad6e-9c01b80eb6e8 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:525f00ea-2d45-483b-b312-063b95c7e401 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2b409a9d-728a-4dfc-b7b8-126f8c3c7c35 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:139e7657-0238-437f-abfc-07cd7d542a7f phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:83749175-7655-441e-a8a9-90b79330bc25 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:283a4545-46c3-4d88-b938-f0b0bd9ec797 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c1760f69-f8a8-4cce-8fd2-e0a89df6a154 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:de3ae6d1-ed4c-4643-9eb1-f63ab0e73a0f phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d96db64-51a2-407e-92c6-599264df465c phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:33b5d96b-5bef-48fe-b714-0bc1b8b5b55d phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:36257c63-6e9a-4c40-9f97-f686d250520a phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f1d3c131-e19e-4a38-8e43-bd0b3affb1e0 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8b8d92d6-28aa-4d28-98f0-adc151cfb4f9 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:433a24ce-749d-49d5-b0fd-2f6bf0d1e8a4 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8ca79cc7-3903-4db0-847a-61d4085413cb phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0c66655f-4a6d-4706-8834-4f09ad3813b5 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:63cfaf77-65ea-4f2a-832e-d91527a761e8 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a63129a7-3b3d-415b-8216-de01deda66c9 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ac79e788-d89c-4aa6-97fc-cc2be8aaddc0 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cfabe4bc-9bf5-45cd-94da-1823ac163434 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ee8af129-84b0-40b8-8051-336810c8df23 phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d12dd140-7aa2-4356-b283-eebd6884b54a phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:6058325e-bce6-4de1-9d1c-a11ee0a859d3 phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:93363ae3-5d0a-4ffd-b5ff-20f49dc82fa6 phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:51e8f153-286f-40e0-85f0-9dad7039ac4f phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:5cc08b6f-9512-4722-866f-76bf5239e5e1 phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8d5eff96-d6cc-4e4f-9423-64d799d7d85e phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:63c0caf7-eacc-4787-9265-0f1a020819cf phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:ff34b7e0-a9ac-4291-b630-30e29c6ee887 phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:20f4f1f9-37a6-4734-8906-786d73c9da4f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6ba0af84-e9d1-4bd2-a25e-9ebf1581a984 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:164d0569-8d5e-4085-a3a5-819d8f971670 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97c16e58-5896-475a-8daf-4f4cf34996a9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:23dbc57c-2cd8-4895-b97f-18811096ff19 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d64fb2c-7c09-4077-a1d2-808d993bfeb7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9fd0fda8-144a-4497-a362-8fbde700f19a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d323d21f-ca67-428c-b7fc-d2c48926f61e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5618de99-c92d-4204-b978-ec829114a226 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab834837-d9c6-46eb-bedb-3fe86791a7f4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8521135b-f06f-4dee-8f33-63632c102aa9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7bfc223-4d95-4e82-9266-86db1258d811 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cf9fe54-a4f4-43c1-a87b-bd1e225eaa85 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ac476e4-d0ff-40a4-a42e-e94d4ceb7ad7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d3855cc-f15a-4498-8b74-0510ff06d0cb phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3837036a-0207-4f49-8c28-22e83de0ed50 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1b0c1867-5876-4ea8-aacc-d8156df4c858 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:803218a9-7b77-47a3-8577-785ab8640610 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fe9db16a-ffd8-4339-a350-17d061c75bc6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3885d137-d92d-4d95-8b37-c3bb2caee35f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d62e5773-3e4e-47d6-80ba-8ffd1affa7ab phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a77bbbc2-eea0-4829-bd7d-b3575dbf98a0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b860134d-6d68-4d19-a0ed-34de370f03be phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:acf122ec-78ad-4a98-aca6-199bee2a29c1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1b381845-b9df-4e25-9262-7abe5f4bc78d phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:80d54795-1be2-479b-85ba-b124a9c1143c phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:612a3eab-419c-42cf-8c71-2a7c88707346 phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:09556e85-5cf9-403a-b9fb-dcea72c35dc0 phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:974daa0b-4cc8-4de2-85b5-523583acfa84 phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:373f54b8-8ab9-49cd-82d7-96c91a25d21b phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:fc723abb-37c7-44c6-b7e2-3f97ebd13319 phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e64156df-5262-4d52-b520-a26d411f4ae0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:66bdd294-9a87-472c-b0d9-57e247f11ef1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:488e3211-c3ff-42ac-a8c9-239f3f392690 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f3276376-4ece-48ad-99df-91c0386f02e5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3258fbed-7c97-434b-a25e-e3213ec5232d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e2de897d-b6f5-4232-bb0c-8b978d772b22 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6bbb7c5f-54d6-4e73-b2b3-6486d92d54b1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d0a22ffe-df2b-4d29-a9eb-6a16da8d7847 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4d8fcba4-111f-4ad7-bc95-27501d8f2bd4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:859a5dda-19e5-46ff-b6a3-df552081ca8e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:58094460-1e3a-425e-a9e4-8bdfc0da4537 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e2cf61db-c36b-4a5a-a788-e2630996c0d8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2abdd453-ffc0-473f-8675-05739f31c9b9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28d9398b-c34f-47d3-bb8d-f82862d31e09 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b2eb07a1-6cc5-48cc-bdd7-7b37519ebf82 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1be67c6d-80bc-479f-bd44-04f7a9316e69 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f24a2bd-e773-4256-83a9-48c3e9c7a5de phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:240aa2bf-a2ab-418b-a597-1b41dd601ae6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c56b4524-1e89-4941-9060-6717dc3a35be phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:f2730ab2-c6f1-40ba-b54f-b2009d80d637 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:85ea4c55-b2af-48a9-9a0a-d0f753798597 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:1114ec6b-a8f0-475f-a0c4-d02df8ad59a4 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:5c00ef1c-9490-4af4-a9ef-3941e7734718 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:320bf210-04c1-4891-9c5e-331818daddf8 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:467b94cf-ddfb-45e8-82dc-86035a8b45e3 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:382722d9-25f4-4198-8eda-935ed42a98e6 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:62a0dea7-1c3a-4db9-8c65-321327c7196b phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:47be5f9f-a64f-4fc0-8bd6-c1b9140ed5b5 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:7cfb05e9-2449-4f9e-9283-2efd701e4dab phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:7c3af71a-8316-4434-b756-08bf95ac9ba6 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:ba72d3e1-c200-46c2-a4ce-4ca1b2851647 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:86467dda-c390-48f2-9876-775ec298f171 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:4aea5443-194e-4ca1-8416-b4b3123a3144 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:7607663 uuid:a3f72b89-a585-4aaa-9e86-e78f618465b4 phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7607663 uuid:509e4a33-e3e9-4bb6-9b9d-da2a3ce7f840 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:650b7cfd-f8ec-4e83-8ca2-50cf003f3332 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fcab08dd-9d6f-408c-9825-b91e0503cf87 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:004ee400-5b63-4b02-89d5-3661f81fdf3f phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:17fffd1e-6c78-4763-85e4-b56119013731 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c5e208e1-c573-442d-a144-a099f034ef7d phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5f3bc143-a447-4162-b3bd-1cdee473b203 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a00579b-520b-4eca-9f1c-a372dda0ed69 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:981203fe-1147-4f13-ae4c-b0098f87e826 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6941df7-6b10-428f-9fec-99aa0b245074 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8d042b63-3d3f-4121-aac8-bb7a0e96514d phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d17e952-884d-4c66-97f5-febca45c4968 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f1ef93a-60a5-4962-ae16-27d03828093e phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:31276c5e-a96b-4c87-8835-8ec99925f938 phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:106e6502-1959-44a8-aae4-a13a9d03001f phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:10d2a17d-18b5-4852-98cb-10f7ea22ae72 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fc1c99b1-d5ad-47cf-b57e-d59224f4296e phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:54a66c0d-e943-49bb-87d7-ae4038d0668a phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e991358c-f5fb-4e4c-a2af-d845dc27430a phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7b1ecdf3-05ed-4233-9802-776fecb0d7d8 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7df2d5f7-9bcd-4c9a-92b0-3f1b53a2b660 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6600b1f9-acef-4afd-9d25-99d735d92cf7 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0442b2d5-51b6-4300-8dfb-e6b33e691389 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2b26056-32a0-424f-ad6d-9486b9b1e722 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c5d0d31c-ff0e-4af2-9238-da6ee09f97eb phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95a2f3bc-7e73-4914-8c01-f8974665e9b8 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ee05a32-fef7-4b22-89ba-f7243350fb14 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee11e012-6e59-4d90-8923-04e421506c77 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66e35450-a365-494f-a503-721baec45266 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37aaef6e-e2a9-41af-9047-4400285d8a7a phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1fe40545-4ca3-459e-8830-f765c9fe3ba7 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:05c578c8-e1e6-426c-ac6f-1665a4ea2fc5 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e13c7f18-fe5d-473f-b6a3-90daf928ff87 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:096f1e13-f5c1-4e9d-8880-7abc27a9a21f phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:feb06d56-46fc-4457-8cba-8cb734bcbc3d phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:90a20982-b93d-46aa-9eb5-8549362da7e4 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f70f60dc-e2cb-48d7-b1e2-a8034a360988 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0009823b-4d03-4ac4-84e6-9a47494282ad phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd78f07c-b6b2-483d-98d2-0dfa7d01e768 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:979f3224-3a15-4d9c-895f-11c2cb641b70 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:92c82afc-510b-4627-a4e5-c6d4dec61887 phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:a39b9022-a61f-4386-8e01-3ac26835f326 phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f84efb3c-ed54-4005-82d2-47401c43cdea phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:3344da45-d01d-4606-a023-fbd842ba74b3 phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c1845a28-02d1-4db6-b356-41c4870e24ba phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:593892cf-d175-4d4c-a5cf-fc44413539c8 phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:5c993a76-596a-4c49-b386-51b21bf801b1 phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:85c278b5-d4c0-4e26-a6b6-151f04de850f phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:0735a3af-cce5-4ce9-a26f-efbb2d8d00a2 phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:2662b2c0-6816-416d-8b12-b07dc141641e phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:65413f71-560c-409e-a595-2ed4bb79d858 phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:4705b6fd-0e55-4212-8e25-04dde6391ab5 phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:a5142727-42df-4496-84de-65baa77d6a34 phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:a623da3e-6409-4460-ace7-3c055ced2ea4 phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:4e42d866-7049-475d-8e4a-6a30593cfac1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f9d4e1c2-8ccd-4fc8-ab89-e71b712179c4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:63f9e4d7-ae23-4e70-a521-234da71298c8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e0d05a2a-bc1e-45fd-bc35-edf4dbb482c2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:584f210d-bb70-4482-9a6a-42192d44e671 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4843a853-268f-4710-b49a-8116b7bef046 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9ce009be-75d5-4cb8-9c0e-adcc96c83fb8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d3d45281-b065-419a-bc5b-87df297f8fdc phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f2ad2247-1e9e-4e79-b4ab-ed95c4577c36 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c7fc1b4-c89f-4fc6-aa2a-39240f6b2381 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0bf4bb7a-e10e-4ed8-a10a-1dd54ae830b6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:88fc702a-8f42-4851-bcf8-3eff1a159044 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b3d5350c-3543-477a-94b8-dd3b38240f7b phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95aafe39-eb7e-4041-8e6b-aad26e3104e3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5933977a-36fb-4587-bf61-1aaa93d4bb52 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9358c7c8-f5d9-4442-bfa3-6924672b0606 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7539c5fd-b23c-4c8d-882f-740d852db13c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28cbab8e-45a7-46d1-b86e-8492040c9035 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:936e5779-c067-4401-b2c6-c071fb965e8c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9f7ef06a-c33e-4893-8357-757b492b1a4f phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:033884ca-77ee-473f-8800-d4bde281e31e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:03065ae2-2800-4fd7-a398-e96210717e10 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7893b16c-7538-4b36-80e1-7f92cf8b3201 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d62d072f-d358-4f7b-b2ae-43114bbda1ca phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:747893a4-b7d8-43fb-9348-882592196947 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7285e00b-7b69-4c6d-95fe-5163a70c9e5e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e91b5714-33a8-4cc6-9f8d-6448c1238faf phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:12211df2-d333-4290-9149-d68c723bf609 phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:a248ecad-28b7-4bef-ad75-ff1ad9cc1caa phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:4e5be395-830e-48ee-bd80-558c7bf7429e phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:6054f5de-a704-4747-9abd-2bf04b89195d phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:0bdfcfcc-a2d9-402b-afd3-8046dddb524a phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:42d18a99-5192-455c-81e3-333db20929ba phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:ebefecbe-0678-43a9-8bd3-a90922325915 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:85fcfcf8-8664-4f57-b0cf-53a9901d3e6d phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:230cd4b3-6380-4203-be2f-0a73c875976a phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ed3867cf-5a53-456e-a77a-884cbcf0c898 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:396aa0c4-0b7c-4c88-bd7d-852cda81c08e phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:017e5ee9-e2f7-4562-9f34-42fee412c4bd phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3244e72b-798a-43a1-9b4d-58aa83db0877 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc6df4f9-740e-45ab-a8b9-3ab5dc4e2be4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f6f6b03-77d9-4e0d-903b-fdf996673656 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ae5ede60-d5df-440a-856a-ae1bd1b6b052 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fb83dc8-8db1-4f19-837d-6abfac79c5c9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db3ec5c1-dd51-447f-857c-01fe0a3cc012 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5798a838-f21d-4522-a668-c926dee74c5d phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6f23d3d-437a-4b9d-8e01-4b99e0468677 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cfb732a8-ea26-4831-90ec-6ad4c766055f phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:61e2146b-7586-420c-a1bb-4153d4eb748a phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9420e5b1-5c5d-45c0-ae48-416a1ccb1bf6 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e3169f5-9c57-4bcd-a81f-3907af417dd3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d3b209c-7c31-47b9-baa2-f67c662f4305 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6ccf2158-f92a-492d-8777-b4109e0a8a42 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35d5235c-8a02-4fde-9e9e-f90dc92a8654 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa8a138a-8592-419d-a67d-d91213cf7258 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7a226384-26c0-4a3c-a0cc-6f4148552e68 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0da35554-3eee-4140-8534-9c7a5a35505d phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e53568b7-172f-4527-a25a-a449ebf9e533 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3993cf02-c700-45ac-99fe-e31d40f3f181 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:02a477e9-d73c-4633-b3a0-6e912494a224 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:dbc40cff-289e-48a2-948f-28f047b732a3 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:260877f6-12ff-446b-947a-c999009c0060 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ca2fb5c-defd-4192-ad7a-f73bfa7d80b8 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6561a496-da87-4340-abab-ade62048e464 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e426c7dd-e081-455e-bcd7-c5013696df53 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c329afb-930f-45ca-8ff4-15ba6095daeb phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0adb7322-0506-4885-a18d-386a4e7e8cd7 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b9df09d0-6322-4dc4-8bfa-abb887e2a849 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c94f383e-1bfc-42be-8152-c1191bb3153e phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68578a64-fafc-4f8b-9672-7af3f1cc8c12 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d9ec4b96-9b29-4647-9820-445e0e7c994f phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd306368-da9e-4117-b745-8026243292b6 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:50f27229-1301-4e58-9851-8148ba1d33a0 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee53b35f-6226-4704-bcf8-202cf2c6cc34 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d1688939-055f-4f95-9b71-7a27ea101e3e phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bca058f3-8c7d-4fe1-a4df-ea1795c5b642 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2ec43001-9696-4829-b0e9-6b12989d775c phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3b16dd91-92dd-4f9a-9f64-fb392b7748c0 phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0c02a1aa-e5b3-4c90-831e-3a744a7a62e3 phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:b72ed9df-15c4-4641-ab4a-0ac176e517ac phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0b0c8b37-5005-4f4d-a29f-0d9ba306506f phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:be039321-c193-4a3d-8860-943433bf1c95 phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d58ca5a8-4091-490f-86f8-811415be4594 phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4f7436d3-13f0-4e5a-99ad-6200e9fed869 phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f7d55602-fe7b-4e68-ba57-5237e802023d phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d4655f16-a7ab-4091-bf58-0920db83fcd9 phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ea93e5b4-9569-430e-a6e1-5216a820e40f phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:28378a8b-3579-4ef0-826b-e0d5bdc7a89f phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:3af393fd-f71e-47a2-a873-47ea514a1c14 phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:acac1dcf-a69b-43ff-a62e-cd8f25ceaf1e phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:52fcb029-65b9-409a-8e22-c326fc8c1615 phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8da2a244-8246-42d7-87f2-f55284826b48 phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:7e668adf-fe62-404e-8582-ef3a62072c26 phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:04f7aefc-7adf-4276-bb2a-09136db1be04 phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:4b9ee493-ccae-4033-946a-a038fdce81da phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:c07873f5-980b-4796-912e-1a12ae8b38ab phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:844fee48-f47a-4b30-87e9-e624009d4d21 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:edaad817-0eef-4dfe-850d-d6bff32ef4ad phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:88d99ab6-592e-4eed-a653-b8489e43f9e9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5f6604fa-1af3-4e31-a3c7-b4030ded5e3c phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:23aa589f-a5b9-4b4a-b345-14e6ab74b505 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35e3e27d-85a3-49ba-b73b-0b43e7da0ede phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5b0b4c84-93e0-4b79-9f67-8f31e6b90988 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e4db476f-56e8-4518-bd7e-69b8002418ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:26912d10-eaaf-412d-96ae-7bb3df58a0b1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:577897c7-1a19-4021-9ecc-de0928bc13b4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f5d07e26-3a2a-4d73-99f5-f4a18ff620e9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8620fe41-e178-45f6-8760-18bba4a1b077 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a826a6d-8914-4bc0-b2bc-eed106705819 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:426dda3d-2d31-4de5-90a4-3b6958f9dee5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0f049237-ef5f-4fc9-9a75-695f7292c23d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:df67408f-cfa5-46f8-afe1-b29ad24feaf1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9dc3315d-9aba-421d-89a2-cc8ebf659261 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:af6d9b79-68ad-4d1f-a6dc-6cd5c980483b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6a0e3ce0-3567-4afd-8270-6e287be4fc84 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:070a8b0f-8744-4daf-b1e5-96dc9ed73f1a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6a3a1f02-ed78-487d-a31b-900ed113ea4d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:98765fac-50de-4ffe-995b-04e41c6e1327 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:67e6d7d9-4a5a-4dac-846c-2aefb120f307 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82e8fccf-0293-42b9-bc50-4fc6376105e0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d54ed1c-c0ab-46cc-88f6-511b8c54969a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d631fd68-d0d8-437a-ad61-0268e0a5baec phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2bf2c697-6215-46ee-a7ca-39b46934f11c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:849b3d84-2a69-474d-b6eb-a38606518088 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2c274168-710e-4083-ae6d-f892fc4c8bb0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:def2a3f5-b03e-4cf3-99d3-6103f49b672e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3c0f9508-049d-4868-bcd1-04de72ebdf9b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0cae76b2-523b-4712-a641-e5f5bab599d5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:525cb2a0-e5b7-4a92-a372-d2fbf51c8a74 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6340f22c-a84c-4133-939c-b82460d982dd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8297d130-5d59-4d89-82f0-10152f581b5a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5de8b84b-c509-46a7-8fdd-81afcb4360b6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d7cf949-053a-48ad-ba52-4e99b45d9bfe phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7f9f4387-3454-4652-a960-73a0badc4862 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:688a293b-634e-48ca-b033-ee20ab74f349 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:92e8898d-cc9c-44ac-b223-3ab42ddf6dfa phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:35fdff64-5800-4079-9899-a19342c03037 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:460a9add-cbf7-4129-95f1-28f1965e4eb8 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:81f8888e-04cf-4c7f-828d-1b42b75c402a phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:59ef538a-7353-4f70-ab98-06ac77bfcab3 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b946d140-2524-4e74-9622-83f82d781b77 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec9e0c10-c804-4da4-93eb-1fc8fb6c1bde phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9c2523bf-2725-4a56-861e-edcebcac03e7 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bc853676-6c50-45bd-be89-5c355bb43595 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc2a1c85-40e4-40d4-a428-2717a7677f38 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d8b34bd7-4c46-4c75-add2-21e2cc2e6e1d phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:21c154be-562e-4ff6-855e-3b37679e981d phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0310cdb0-1cea-4059-92bc-dd519bf35dca phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f270024d-9510-4872-9464-d6efab2a8e42 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7542a54f-c646-49f0-a6e9-ad9df6d96846 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:acdc5a64-fbcf-4569-8cc0-52e51a886fe7 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7ce3a8a2-54a6-4fe9-9c33-53e0c1486f15 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:72fcb061-ff35-4bc6-8240-3b072535779f phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fcee5ce-d9f0-414d-9249-c9a7b830ffcf phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2fe5c052-c86a-481f-8735-0d87c6e130de phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e67a479-a7a6-4267-a1c0-6b5a70ecf80c phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:beb58706-a3d6-4792-ae21-f33035fca0d8 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec1ec449-4a4f-4427-be77-04c018efaf65 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:13a24527-70e9-4d4b-902e-aa4fbc761cd2 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b0f2cbb7-c7e8-4f3c-a26f-21e42f1454ab phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6fe1fc8e-05fb-41ab-aa07-ad824b9a006c phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:58e887a1-9bde-446a-8fca-3fdaaf87781f phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d51b14ba-6f20-4b58-b21e-aba10d545077 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dc5fbec8-6241-4651-b6d0-11d934a1117b phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f156cdad-3e2c-40ad-a22c-31734224fd9d phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:11035d00-1570-406e-8f2e-e40648bcbd7c phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:afcc46ac-d713-4326-b8f9-59a0573db859 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a1ebc4eb-2381-48ad-be46-274801690f3a phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:298aef40-0c47-4e1e-b524-75177915b08c phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0012fdbf-3c5e-427b-af95-6d9f637026cd phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bf0f1b12-d5fc-49dd-94f0-ba65fb361ad7 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a329f5d-9087-45fb-bf0c-c7d3ccdeac8a phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:86b4780d-7080-43e0-8c34-33bfbc810c63 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:476797ad-663b-4cdf-83bc-661e3ef95abb phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:44905453-c27a-4341-a5be-b95d27c895bb phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:add41daa-1001-4831-b902-917b5bac4e9f phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:378a9bf9-0983-4e75-882e-7528d81b6015 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa101622-526b-4b33-99ca-a5b1a50b053e phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1efb7c08-2cf3-4cd2-b205-61366aba58ef phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f689eec2-77bf-478e-a7a3-0f2ee0465956 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a893541f-4bed-4e2f-a798-e5e2e0769cad phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14820416-0966-4b28-9a8f-475d2f135935 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:de6c5d70-f5f9-467a-b0c2-1d01ca7038b4 phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:af3c38dd-ed1f-41a6-94b5-3a037418be08 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:76e7cbb7-dbc1-4e36-a5d8-252c1ee9a2a5 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1473c714-8f6b-4de1-be87-55fc2298aba4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7bd0cf78-3a57-4f96-8509-608b60df6fe5 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6565931d-8fbd-4acd-ab68-5b834e90d11d phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e6d0cf86-999d-4474-b1b2-9bf61f4357d0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ba4fb572-1dad-460a-b991-30d4697798bc phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:561b9044-87fb-41c3-aba7-2f20750fb2d7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d42a7ed-b087-491c-a13d-16f75491e4e7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f0310c63-79da-47cf-be3e-0340d683fe1b phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fa664b6-e238-4a8a-93e6-29fe0095f919 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3274502-44bb-4d40-8946-84c4b5156872 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37245ffe-eb66-494d-9e87-f30dd57ff933 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3888996c-895a-4142-b54b-f5e9dd22246b phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ca236e7b-82c9-45ed-8657-b416bfd56ef1 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a6a8988e-d3ef-4ab7-abad-933484e85bbd phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:dff658dd-da02-4f01-9150-97d786cbdec3 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:dd4b022c-ae34-47cc-aeab-149d5190ae1f phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:34da3429-2840-4448-bd11-cd85169ebd4f phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ba0450e2-a3e9-40fe-928e-e9cd86478eea phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fc8c9fc7-8bad-49bc-adcb-5bb56c67d0fb phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:65bc224e-28a6-4d68-9299-cb169c0c04c3 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d78ec3ce-7c8c-4948-90cd-0e4b9326de72 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5c55fb1e-d635-4731-a756-69bde46de2e9 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3afbaabc-b416-4966-986a-8675daf8073d phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:99b2d510-0f2c-46fc-9f2a-7eaf1fb657d1 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:787d7a40-9c6b-403e-ae69-0b4e15edff1b phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b8cf67c1-a614-4b90-a17f-6949c610de5f phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b0fa0ee-1072-4005-9df7-8c7cd625ace8 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4b01df97-1933-462d-a8b3-e5cf556a2910 phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f14caa7f-151a-493b-a1f0-46d3abae23a2 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36659944 uuid:7a59ba45-90b7-41a3-83db-33571e5c4c1c phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36659944 uuid:1ed099fe-c667-43a9-9d41-cf8581058643 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36659944 uuid:8c4ead49-0a7c-430a-9279-f49757f2dbd9 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36659944 uuid:4ffbc98b-af1c-4988-bbed-e5d5e95b1c39 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36659944 uuid:1e0665d6-a1d0-4a6f-aa43-5683de929d21 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:b209a909-2547-4f34-ab91-95060193d2ff phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:93aba233-c0d1-4178-bcad-22fcc67182b8 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:2f9d3175-40e5-4fd7-a346-c36b2fa1f540 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:7877cff0-4d85-4552-9267-2b8d2f8a3980 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:59c8e360-7efc-4ed7-b9d0-e5641d542323 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:5f80f396-3385-48cc-9f8c-38b36cac4308 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:b7fd829a-ed79-41d2-a3c5-ab0d7630c16f phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:04083b9a-d8c2-48a1-b3c8-b3010546c2cc phenopacket.store:NF1.PMID_36659944_Patient biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36659944 uuid:441bd010-44ae-48e4-8a1a-7eeec491209c phenopacket.store:NF1.PMID_36659944_Patient biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36659944 uuid:ca759e6c-da80-49e7-acdd-a8a4ee85cd60 phenopacket.store:NF1.PMID_36659944_Patient biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36659944 uuid:d7e81694-d2fb-4eaf-adfe-108cb4abe2d0 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e35cda07-1611-47e6-8938-55ef37c30bdf phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:af9cc843-8f4c-49bf-8e90-33f28e5ee8ac phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:015fbcd1-4189-49bd-8095-0abb24a1acf1 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f9a8f31c-b705-4bd6-962a-e8ef86fca113 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:977f0435-96dd-47ae-b5b1-23390312e0d9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1c0c82ab-55a2-4ac4-8c03-e8662e0b5ccc phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1facf3af-e430-44b0-9bf8-00947a4ea805 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:98f293ed-69f0-4e95-aaed-0a7838085082 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e2044686-7145-4a9b-9bc7-f58e60995695 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:810310a3-4f77-4172-852b-73b093951f8f phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:80677aff-4024-43ac-9cca-29091b63a6a1 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:83810e73-4ba0-4fa7-a05e-afc6358c8f2b phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e274fd1d-120d-4416-9176-8bc2c991b814 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:317339d5-2b21-435e-9595-eb89b2903a80 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:40bdcb01-4247-4d94-9a54-14585c61ff80 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d57f85f-5f95-4337-bed5-f7a6658c7fec phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac22af13-138d-4a10-8f04-cf9798223823 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:658cc068-947c-4f79-9bba-f05c505ea5e1 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:60cced57-2fed-4965-adcf-90782f30946e phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db2ac071-5b87-4440-91f5-480b85e83c5e phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e7db67c-6e7c-4387-9bf4-27aa73e601a7 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:10009cc1-d80a-4c21-9aa3-dfb0952f907a phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6ab8041-cb48-4a44-9dc3-e1d581e06455 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac882a5a-06db-45e9-8e0f-1a113798e07e phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cb806a91-6f46-43e9-bcac-2edf1c153edf phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a07ac2cb-2de1-4d6c-bab4-cb2466b9e0fd phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f9952626-92ca-4b96-83b1-2d26c4f72001 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3dac20d7-069e-4f82-8dcb-5de0983bf329 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3a477460-e904-4cd0-a81f-37f399bc132d phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8f9c43fa-cbc4-45dc-916b-c7dea3b1a4ec phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8f781c04-be6c-4122-a3d1-c3fdae71bf8b phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a73c35ab-9a5d-471d-9afb-3abf85b25a9d phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9570c87b-696b-4400-822c-6c58f51ed300 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ecd1758-3a60-4a06-b725-f4574d572de0 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82576c4c-c94b-49b4-80cb-ad029937c1b5 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1a01489a-baa5-49e5-b5f2-752e3f111a7a phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6003e7b-09f4-4ab0-bb67-7445497d09f0 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:610fc0f1-5fcb-4884-8f8f-6f2863b52947 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4676accc-deda-4882-9905-5c3e6653029b phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab5a5719-c9ca-4134-aec7-32585393aa69 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97a567a7-ac4a-426f-a1d0-a4813659ceff phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d5303f1-cd56-4145-a545-b9831069c456 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bfd3bf19-88bd-4306-9f0c-38084f5da7d6 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:583fc178-f90d-4069-b88f-35fc5f9296b9 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a4d4434-4d5a-42a5-9f6d-f2e5c2cdf9fd phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0c681403-582c-4968-834d-31b009860dd1 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d09fee43-f923-449d-9e0e-18d4ae1d3343 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c098e003-ce25-44a9-b159-22b1fe4660ee phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2a68069-a153-414f-a70f-0e2eac8662df phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6f7ca50a-fc72-43f7-92cc-908e8ead3866 phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:698bc412-3c5d-42f5-aa8a-2973f06a0e2e phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:824dd5a7-1da8-4583-a6c3-a1afbe2b7a80 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b161a208-e782-408b-931a-f4f87bda2fdc phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e6e82b73-03cf-486c-a402-dbe69b7fdc8f phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:be8c7c2c-6577-4d8e-bb84-c4be4b2db371 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:050dfae8-9939-434e-a7a2-31838598306f phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f80e8ea1-2a49-4d0b-a6ed-e484c1f89512 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f305fa3c-f4d9-4f58-a286-2ffbd79f512b phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e83c279b-7a98-4299-bebc-1dcf14c26d20 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b5088da7-5d41-4146-9ba5-638550abc958 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3713bf32-6923-4ba9-9201-21f486947b47 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d84d398d-d754-44e0-9e38-303c424b2c16 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fdaabb3-193f-4660-8081-46b0b0297af0 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68c5f379-80aa-4124-923f-24c02b2c979f phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:01b98678-db2f-4bca-b5e9-6cfe59182ad1 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:33a67f52-c617-4dd2-94e8-5a9c441fbf17 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:694b180a-c9bd-4cb4-90ab-e5ae203d1ede phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4abbd59d-f28e-4b65-923a-f8d9794dec5f phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0ddef2a3-58a1-43c9-9aa1-5fe5745182e6 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89f7fed9-a650-4dbd-a426-d4142c8cb4dd phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:baeadbbe-e7cb-41d9-9262-c0c3a889d405 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:197536ae-f657-40ce-9cd3-f463ef2cc3f2 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:931d5648-b5d3-4263-aa29-ef0cfc6cde69 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b504eeed-e974-4908-91bd-7eaddd503883 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:078d8ebc-b0c0-43d8-ab0c-f33768d2856f phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ebebe67f-a727-4177-bc55-16616673aca8 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:783c6771-abf8-416f-a167-6f03fe61ddc9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:810eb19e-286c-4cb9-9db2-4ce62b87b855 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b781c9c4-268d-448e-917f-0b5359f0104a phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a46a4e43-385d-4016-b1ff-337b9241bd83 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:19913235-ec75-4c43-b09f-79124cc12478 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:930cf09d-7e23-4015-a06e-f1210b51f9fa phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69a6bbfb-e234-48ab-b885-51b224a6776f phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:273c2c40-1f2d-4a0c-87aa-125b75b8de6e phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:00eaca68-d481-4ebd-8e5c-ae44af3ba3d0 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0b47a73a-a9b8-41dd-9362-b55fc4f03c8e phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:695280a1-c49d-4b6e-92aa-40917fe3a9c4 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:04422698-3d65-4295-83a7-9ad68eeecb0c phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8587d454-f5d6-4853-8806-8941a9d4daf2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0dfc0a14-5867-4f2e-99ec-2e69e66808c6 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a1aea89-4263-478c-a2d1-28fe7488a164 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:32f04d98-3ffe-4052-bc9c-3da560e6f163 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2272c29-9a6e-4378-81f2-7ec20b0da78a phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94e6bc40-aeac-4c59-8664-5f60203b35f7 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ba8ddc3-f50d-4c42-bd9a-08826cedcfd9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e4f5acc-aa4b-402e-a309-1aa8baf73980 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0009592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3947f296-b764-4d0a-93a7-36f1107115f7 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4fd6fdda-94c4-48b9-82d4-6c8a11491d98 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ef8b3e2f-f989-4446-9622-88fbfca0cf06 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0010795 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1b60723f-66bd-4e8c-9872-32cb8760abe6 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c9db3de8-8c4e-42c9-b73e-3aafeec12977 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:49dbb437-c3ff-4369-a0d3-2993dd8e8793 phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:25c4aa16-5bf4-4345-97a4-defeb1a4b9d2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7099ab32-499f-4f5f-a151-aedf46f87750 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ca834eea-cbe9-4eb3-afe0-7b9e4d057475 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d3786dba-2950-4728-a00d-b0e3cfe678f5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:85ea951d-6bc8-4f6a-9ab4-21924529fbbf phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:41858591-f7be-4890-ba93-d4183ad5982c phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:aa9d7c31-111f-4423-84a1-efd43cb2b66f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec866a9e-1d15-4593-9c2a-673aa82b1dca phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac2c2441-b10e-4932-b6cd-242b2122d9a5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9ca6b51f-0ef3-41a3-b9af-798bcbd823d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fb07746b-bc1f-4000-bbe2-9e77f8955eae phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fef1dd19-65b0-4ed2-b2d5-3b4cad00c13d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ca59fd0-b6b4-4322-ad08-cfb585ae9be1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5347bce7-26b6-45fe-9da7-f48f6cd40c39 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db02532f-96a1-41c9-83b3-94529e96ab1d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c87f3fd-bcfd-4b0e-8636-a943cd357f4e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:76f04e91-21c8-44e7-a73b-9af30664f105 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:86c19a9b-0051-4ad3-bc6a-353318218e9a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7b4252fd-0a05-40ef-88d1-507abbdb48d5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f419c04-8d20-42dd-9dad-1e807f899816 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5185211a-e6fd-4cfd-a6bd-944d8a5c5715 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9f87c272-f78d-4c3e-81fb-849c9ce634ff phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa373a18-a8d8-4b6a-a8ec-4e4982ac5bb5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ae0fc45f-1ddc-4e18-b58b-5674c3412b3b phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c151c05c-d109-43e0-bca3-00710cc9430e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bad781ef-4b4c-4805-bd4f-07da1c8fcda8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f3fcc839-db8a-4b7f-b594-3c0e6525c0f4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a041121e-8b6d-4b7f-8a64-e3f726a982d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:df92ead3-e707-48bc-8aaf-252942844d07 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3967d480-7539-49df-b523-4263c09f0641 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:18c2dab8-673b-47d8-9f5e-0936e017264a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bae902ba-5538-4bba-8d89-29622084df00 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:979a3dbf-15f6-4d94-bca1-0430c1052f92 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b6246aa-1c92-4189-ab8c-6af7d64c1ab5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:80298f89-909d-4e4e-a8db-4f51d4a60ff8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:09012744-154e-4a1a-b057-8ae5ad47f3b8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b448264b-889d-4197-abde-a7f9d1c20950 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec038429-6889-478e-a118-9ea7aa9beba8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3c3c3052-c89e-4b62-a4fa-5f986af5f5bc phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:acc88c4e-0539-4695-8b11-e08e16de093f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dc4d39e6-0d53-4cf7-b131-a6d86cb71aba phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:96f04324-86e1-4bf1-bcbc-6c7bebea4603 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14ecbe3d-47c3-49d1-9cdf-4634b4ba23cc phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c8665c64-5154-4828-9c69-3f00fb8864e6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3cb7be50-eb72-4976-ac55-c70b5a4eb305 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c088897-a9c6-4897-beee-4a40dc3bb20d phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94183c85-6a1e-4fa9-b154-9fb46d81a6f9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e1fc42f3-4ac9-4bbe-bada-2e2bc52f7255 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:24e9d760-5fff-4d77-b411-fa4bbfe13c0c phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2185f12d-2601-4a00-b839-905edb520c8e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:524ed53f-e83c-4a85-98c4-0ecbd623472e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:07137b36-fe41-4e02-9913-71d612af0010 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8c76ee3c-0207-49d6-9669-0913e120e0df phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4e623a91-616c-49b0-8395-407348b5a9e2 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e188f390-9fd1-4ee2-b433-06821fbb27ce phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:eeb2e70a-ada0-49c2-8cc5-4bd2e6d8d781 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5a37abd5-3633-46aa-90ba-2649f42f3c16 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c3dd3e16-94b4-4135-879e-997859698498 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2fc7a350-761d-4c10-9db9-5f3c784ddbe8 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f8c72fb6-f548-4911-9e26-74f5d85e5dff phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:39e22760-a2ff-4f18-b863-f3b07d5dc743 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e7505708-482e-452d-814f-6dd086094a3a phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3115b4bf-9f19-4ea1-b1af-9f0e0bbdfc90 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:470ac6e8-370d-459b-9932-7a30545b5602 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:00b8df03-13cd-41ac-bcf2-aad330ba38f4 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c3bb4ac1-ade0-4750-be8f-56645d7ac563 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6adf63e6-0da8-4cdf-b9ce-99ecffe4e5e8 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:395656e5-5928-49b8-9b37-d6cc2cf34b21 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8d6ce855-39da-42bf-8f61-3e7c12e7e251 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:2b14e375-3672-453f-aeac-bd1a9742d181 phenopacket.store:NF1.PMID_26178382_UG_575 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1a4f5831-0ab8-4428-9a6a-441531586b0d phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:9ab7cba9-4796-48af-93af-a39d16fae120 phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:cce1a07d-1fa0-4f93-a4bc-27ca0d94e34b phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:4a62dce3-d99a-44a0-bb3d-d5f800938c84 phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1f94e818-e124-45a5-89e3-863d22bffbd4 phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:b71c2838-210c-4515-adc8-11d1a49d77ab phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:13b71520-73cb-4ec6-bdf1-05394b1a46fa phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:4e8b0628-84f2-4665-9eca-f74b8880d292 phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9c831e00-b50b-49f1-8896-768db9919187 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9ca437d1-0d59-437b-b872-01130ea15a24 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ec828d55-830f-402a-9e42-eff04e30e6a3 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:44bd5b40-bee4-4e01-b8df-c9aa1a30d3de phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2963f786-d58a-4015-8f9c-2112c5658362 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8997cb27-f17b-4ecb-9aa5-de7bbc40ead1 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4a1c129d-4074-4cc2-a950-bbb752ca181d phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:288729ea-4e51-4602-9284-33d4efde4968 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:293988e9-fac7-4d51-a73f-6013832fc8bd phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:577814ef-cc75-4ad1-a605-f8e7f0c8084e phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:51efaf9b-9b36-462d-b543-9f5187f7c587 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:92f50b0e-8a72-49c2-93fd-a7261a9cb69f phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:193a4f23-5386-48ff-88b2-a877e2b96d4c phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:06659b2c-f5e5-4708-b003-869949c5dcf5 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d369aabb-445f-47ac-b3e1-86a853927b46 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7fa077c7-1a68-46eb-9489-0c32f8d53f57 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:811748fb-1896-463f-ba15-90fa2ee05058 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:c2af0c16-7367-44d2-841b-eeea6b5b3e24 phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:d4fb6bca-9c33-493a-ac06-c3eaedebc77a phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:37adff85-9e15-4c5d-ac34-b4c1d56dc9d5 phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:48fb778d-72d4-442d-ace9-eb57f45f10ea phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a177a92d-94fc-4191-bc15-2e86614b000a phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7068a93e-8c9e-45f9-ac09-bf2dc9e1c49e phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:384a8ac2-16af-49c1-9e31-bea0fcd4684e phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b4852902-0ae6-400c-90a8-e52a0cf0eedf phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:efa2e366-f2f2-49b2-9238-98813466080c phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8a2943cc-3a2c-49b4-ad81-7c04fe63f506 phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c12fa04d-9b23-4a55-b457-52af27e94ac5 phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f345fc3f-01f5-41de-803d-91ce5b4072ba phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f25f2bf4-e0db-45dc-a6e2-65aec679b9ab phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:851f7645-89d3-4ce9-a0b9-480d2ef43861 phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e4b8139a-986c-4cb3-8f8a-cc5749684311 phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9637f7c4-44d6-483e-b89c-0f3dba1807e5 phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c28526c5-4068-4051-8720-272f5e5a07ba phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d2e1dd89-0925-40f2-8da7-52e2593d5dba phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:94dd6862-7a2d-42ed-872a-8498fca278ab phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3447ff01-8e03-4e28-aa2b-4f4744e67ddf phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:737a3ef8-a029-4959-a44d-1b89917e05a2 phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ebaaa07c-9d83-4668-91d5-1c0ff555c658 phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:468a2333-cb56-4bb2-bc1a-6878bda4ca69 phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:87a1e32f-8160-425b-9529-bb01d3120bed phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3398f8d3-7f54-4f98-80a0-07348ff32a8b phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:05368307-42b9-46c0-9323-973b1c6222d7 phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3a5d9361-9598-4ea5-9d8b-e13040a55fa1 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a4ea49b9-8939-4f33-85ae-4efe58f40833 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:40ec4bb2-46c4-48a2-97fe-1f4b1d948a81 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c437a330-d5b1-4e69-8bf2-2ac0658a7d4b phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:23ed1ded-ffb8-4c5a-8186-1ca9c06dd34f phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aef53c65-ed90-4592-8066-11a222155d73 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:463e280d-d395-4a18-906b-a10ea6e325b2 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e4b5d0f6-ded4-4398-aaea-8a35c1d48a8e phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:03930cbb-175d-4a0e-a937-184fc1273a92 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a9b68060-67e3-4ea5-afb1-7003219e8a2e phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ed3f95fa-87e7-4b19-8541-c044db61a9ca phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d9078925-e72a-4308-8c5f-902e6e5b2f47 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:37eac317-3dab-4442-a792-7e82cb3ba385 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fb48b201-32c9-4640-964f-b8696525edb9 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:353b276f-9232-4e36-82a1-414072df52ec phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:844f51d8-8aba-49a6-b428-c250fff9e3a5 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3fc2c96b-a243-4874-96c2-f289d25f5816 phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6ca41a1d-7efb-407d-bf96-2d1b7b2e96ca phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:acc15543-966e-49fa-af49-5d3c4763788f phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4d274e23-22ca-4ac2-8bd1-ba179ec0b96c phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6fc97f0c-0269-46c6-ac80-288e80097623 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b8f82d1-4fae-4fe4-8d1e-2271d955a213 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5fff5c3b-fda3-4fbb-8b96-47a945336c75 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc1544b0-b905-4295-8241-4c97ded0aa01 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b37abd57-ace1-461a-8aa7-b5f838b23832 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c5c9eef6-d05f-4e98-a239-88431fff0ada phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:723b5d06-3b01-450d-ad85-9feeec24ed4f phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ecc7ca91-e3e9-441b-9b49-a8de1916d281 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cbd35aa1-122a-4def-8e53-23c53271f1cc phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12dd0624-2f17-492c-8a1e-551effe49306 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1c21c664-96b3-4895-9eb5-f248be8b2ffd phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2c54d0b8-7602-4b12-8fe3-f270b4567047 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1b33e415-4603-4d76-9434-4410bfefe9f9 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:3ab09145-1261-409e-822f-d69c465ac663 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2009fba8-5407-444a-944f-d7cb459c9acd phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:edd6148d-f4e0-4347-847d-aba00b11edd2 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e3c2653a-9371-4162-b2bd-ba3bf9e13bd4 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:888477be-840d-4872-b230-fcf6a0c0c307 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:abec1f31-7860-422b-ace8-739f27ce9e0f phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f02d660b-b68f-4c12-90e7-5960892e43a3 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d3afceb4-ff5d-4ee2-9457-2004387724a8 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fcaa8b54-e3d0-43a3-bcba-fd636457de73 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a6f71aa-d4f3-4f5b-a712-1f0857ce88ad phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b08123f0-3c05-4187-80b0-057a37c0ae71 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8cf02910-a78c-4665-9e08-11a0cf833dc5 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f71bd5aa-a5b1-4a69-aa9a-bc2966872331 phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5dfde940-5142-4ebb-a744-288be86696ff phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9d3f564f-aba3-42d4-92fa-6a1816db8329 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f98c002e-3a56-4a37-b586-f8da5097251a phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:18b9e04e-3366-4fbd-b8cd-822e41324a3d phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9158acb9-2e6a-48b5-90a6-65c34a526017 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5f7eb15f-1c3f-4d34-8f7e-3217ff4f2df5 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:db64f85c-2963-404c-8404-6ffeda1e6f30 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0c84b60d-93d9-4a08-a2fe-d8600dd8094a phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b61fa97e-9168-4375-ace4-408957c4ac23 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1c6d0580-2e14-454c-aaef-42fb74f568c6 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2d2070ae-bc68-4dec-8e36-34537a2c57a4 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7d4559cd-b341-4743-9583-838ad35c0547 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3cbfb386-8935-4de5-9637-78745965ce9c phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1471f8b4-06a0-4feb-b39b-83efa1c5fc37 phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5edb215c-7c88-4860-8778-b37eea310c9e phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:01cbcda5-29af-47a5-9516-d5a895469217 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8079b97d-185b-4339-8cdd-f23dbb3dcca2 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:51b0f580-2660-4932-a76a-4e0e595b5956 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d7d81be6-fac0-4def-9f93-06cd8bb8ae22 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fd889468-f7ca-429c-b46c-6da5c652f919 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1813c283-f598-4a4b-8ead-e62f6d1e23a4 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:95be0369-0bc7-48c1-be65-5f47488f78dc phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ea3a6c5e-4b8b-48f8-aa91-962e6e01ae30 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bb19272d-e36a-4386-98f6-ba30a4c643ec phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:469d2971-335d-4292-a0a9-271cf3757bd5 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c5ccdbcd-31f8-4116-8a89-03999b5b35bc phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2f5e965c-3ded-43ca-ac31-26ccfd3f9b4c phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6a0c09b1-53ad-4287-85fa-80de4a04d16b phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:50079039-0ef0-44ff-8665-989d6f924072 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3c6ff910-edbe-4ed4-8e36-8cc103c305d4 phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:272d8991-548c-4947-9aa0-248b3127c67b phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:650bfc04-2d34-455b-b3b2-fa4ff8317033 phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ec3c87cb-acdc-4e08-bdf8-2366d5a5c6ae phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:950b1a21-8d22-45b8-8a58-9f84807931fc phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:41235409-bdbb-49dd-a41b-db1ba1d84428 phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5c2d2428-73c0-4f6c-bca2-fef216ca2a3f phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:80889261-c6f2-4085-b52a-fa248f256f8c phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a76df3e8-a273-447b-8c03-34857774f57d phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:efc013c1-c743-4649-a655-7e3ef4f03182 phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:741943df-0d6d-47ce-ab5e-c040743eb733 phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:65057d9e-f731-41ba-9786-3b7a9ccdf6b4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c539df14-3a05-4d9e-82d8-6da8aa3442b0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e76365ad-7455-46bf-8b1e-c56227a97567 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b31c6379-c235-4381-8559-badf729af836 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f8079536-3000-4601-8313-3c29cafbdf67 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b5273a9e-eb4e-4963-9f1b-1a923be3ebc2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7827d7bf-fff9-417f-b05e-f900898c1265 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b2191765-eda4-4b0d-950a-90b16ccf91d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a8bb411e-5e20-4c9e-871f-a484a90ef6b8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2fd60178-8213-4ccb-86e9-abe35ff8337d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db6d28af-da8f-41db-824b-a53ed48e69c9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d28ea675-0274-4e74-a437-da70ccc825da phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b1e3989f-c32a-4763-bebf-c9b890a0ccab phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7ad0a121-c7b7-43b4-a57f-37618b3a3d6b phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bcb885d5-f626-4df5-a60a-a7c4bab8a1ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d6e16f0-6517-4b49-82e4-681250fa800f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49f77704-6b35-4e88-a9ba-d05bd8d68bd4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f48803dd-7022-4a4a-9add-fd2eb7bb3baa phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e73b746c-70fd-4acd-b5cf-9fd833ab0112 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e890b8ec-40c3-46ef-b0c7-deaf1c0ffaa3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7e7ecbae-ff43-4fbf-a927-c6e735ab52d5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce5dbf5f-840c-4487-8a5f-a50e237f44ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94a721eb-9523-48f4-bbe7-3188248eab2e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9f98c02b-1e71-4ea2-a80e-964af9cdc01d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c852c8a4-790b-481f-8dae-ce3528b186d0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:15d543d8-4426-4c12-a274-d8b83fb64932 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0e19cce4-f3b5-4a66-9cc2-37f58db46cb0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c9d5bc6b-07b1-4c82-a08e-8aa82df7b9bf phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e6942e0d-1ac2-46a5-8622-ec4abed312db phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f8e3afd1-c894-438e-ae51-078451b64c9f phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:143eb540-0a5a-469b-81b8-1fde69ac4187 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c916213-362e-44b3-bb1c-e78d2dfb29dc phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf8bd053-58c7-474c-b049-32c0257daff2 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b216daf1-a2ec-4f8d-9de7-0bc536f50c63 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fe8e79f0-7c5a-4065-95b3-cdde4a662e96 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:48b74a20-fdc6-4642-ba4f-d51084c747ab phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7c922fc2-43b9-4a86-a633-b709d1f074df phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5eefe3bb-1b55-4144-bfa6-49811badd9c2 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:331ebbc4-ff1d-4865-9195-a7f45bf87fdd phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8a9bc145-450e-473f-adfc-bc040b2e452b phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d064aab9-7071-4a86-a100-369c95972bb0 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9dcf3c18-26ec-4c61-89e0-cf5a19a84cc9 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7b2f194d-4c57-497c-9241-b016a6413041 phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:dbde36aa-6999-4902-a304-601c1492fe53 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:01513a7a-8653-463b-a612-57584eb0fa2d phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fc2334c2-aa47-4a32-9a2b-a24e2d98c172 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78ce9173-cd35-4162-8873-7a925d39a892 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:87bea7b9-59be-4b58-b528-aa44e85760ea phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2e46439f-b4de-419d-8872-2265583b4441 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f02eb4cd-ed5d-4869-836f-821654311747 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49f7010f-daff-4177-bf77-4a459346dffa phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b841efa0-5e6a-4eb3-8f76-3fe41067c6ed phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9ef84784-ad87-4992-92c5-87d6eb7a4f29 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:41855693-59eb-4f31-81c9-16a4cb6ab1c8 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c902abd8-7fdb-47df-ba60-ba89c721aa9d phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a35f9538-98a4-40ab-a8f8-6ce50cab3bcf phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c6fcf7d-cd30-4a8e-969f-5d545f4e5426 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e7ed67bb-b828-4df8-a4ce-aa921fd84395 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc99115d-dc13-4969-974b-047011f30929 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6cda4c5-ef73-4e1c-9351-af88384d7dd1 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d3708bf-2ba6-4050-aa19-cf2c84a81335 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa54ac33-fa93-4889-8532-a7c92d2bc34f phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fb7477e0-6103-4c66-addb-cbacc88ed0c5 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0edf5a99-cc57-48cd-a31a-46adab8b8571 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6347d73d-4136-4330-8b65-5fc90ebbf332 phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5462e2b5-bbd8-4bab-8a8e-491d31acafda phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1702e850-78a9-41e3-bf10-c530c8abe3bb phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:00b82342-d739-4fb3-8e84-6dfd6249adfb phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0b025b6d-01c3-4af4-9f82-a093b748612d phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3d8f61c0-6120-4a6a-bff8-596db7344695 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d1fa8c91-7436-46e5-b1ca-fbc0bd01c2c5 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:73f22146-48ab-4456-b802-aa4b0c0edc12 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:32cffe5e-816f-45d2-aa72-b43f870b2563 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a241fdbb-2848-48eb-b0b9-abe574127872 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:339a4e94-db6c-4d62-80a1-c991ec31e5fd phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bf076296-ddc9-4c9e-abf7-d49c216b9bfb phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d91c0b6-5c62-45c7-a892-39226d9a2dbb phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6608624-0dc3-44b9-8a68-1c100c2d52c5 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dcc9f53f-0e81-459d-8853-0fb876186f87 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b5d3c534-8df0-4554-a30c-c5cff7d10216 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95577ad8-f4fe-45d0-aad1-541e5c02b5e1 phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2df93cbb-1d62-4786-825f-0cc4f648ebbf phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4db50a3f-2ce3-4a63-8c5a-c284e337a161 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e280a069-0912-403e-b19f-77b282e9cf7e phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1e3ae4ff-b6a6-4c65-a56f-f88bc65a3887 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:75341303-d086-496f-8dc6-55f8180d26ad phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a0dac9cf-4144-4d51-9aad-1654f082307b phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7ef75d15-96f1-43ce-a676-307d3d178052 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0e079b5c-1ce1-4b71-bf42-4402c074c4fc phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a7721739-4913-441c-ac00-98f92d00ea77 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:137ed606-37c0-4185-b19a-bfc02f27f715 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d19e29b5-26d3-4fba-9628-f2dfc780adce phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b7668258-5cfb-44c2-bc18-4eb5d0f8412a phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d469f5a3-e271-40d6-8968-977008e96bd1 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d88254bf-667c-42b4-a7f3-7b16d6c85b00 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:08683e93-b25a-4714-8bd4-a29337776f8b phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8037a440-834a-4851-8a3a-319d05a665db phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:299b3d9c-82db-4da2-ba4b-4d09e67aeb76 phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:bc9eed9c-8e29-4444-95a3-4fc88d075eea phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cff7765a-a386-448a-96e7-536e37e7776d phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:ace12dee-d606-460f-b4a6-2299477d2f00 phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:638b418d-7be6-43ea-9853-4389a8fec6e1 phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:0278358e-17b8-45aa-9f66-de49c4081cf2 phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:d3dd5961-1848-4dc9-910c-c26528d2360f phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:4373959c-5571-4aac-9c28-f44fb5baf14b phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c79af51e-5d82-483b-84c8-3d2f0303641d phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:fad4b8de-3494-403c-899a-28fbcd3a7f7e phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6ef77d81-ad49-4627-b413-e4b28ac0607f phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c773ccda-d18f-41a3-8f48-99d453967ade phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:15e642e3-82c5-4e25-8cae-31a6ee7096c8 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:801d9abd-9a5e-49ef-b576-687948d79196 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1b6f4bbf-8cdb-4b89-a47e-ebf2b8e704e4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d68eecf3-5932-49cc-9a04-23878b5bcff3 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a1938ea-b712-4a7c-8818-89bb8ab269f5 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:173a40b5-da76-4e37-b380-4ce6200e8bab phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:de3f1b3d-e5cc-4b83-9219-c069b36ef34c phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4264dea0-6c14-4de7-923e-858f158dce5a phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:093a88b0-7233-4514-8581-923bc732115c phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:111f71dd-a45e-4c91-9f1f-b9b27cd85b03 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c10a450b-a342-4d46-8045-d4ae63809941 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f32a8453-e7bc-4576-a168-83edfdcc491f phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:07110528-683b-4915-9922-485fb143fae3 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8184d2b-1d3c-4a3d-8f62-a94e38f91c00 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:25d19508-a961-439b-8688-120b06e53f1a phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:79c098f3-d73c-4338-9fc7-131a56a886c0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:47368e0e-3386-4ad4-a026-e3c94b5fc46d phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b2aa37bd-1c42-4e72-ac5e-e84eb362b341 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:36291862-b81c-41bb-84c5-d7194d149ab0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d72ce028-1c45-45fe-944d-f8ee28141403 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f127d3c8-e0be-4898-a202-f7863941440f phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49f62725-d4e6-4085-9d7e-0c0fdf59c637 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ca5bdb15-dc1f-4209-ab4a-e9ccd1a5fd1c phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:10b9f744-20ef-43be-985b-0245db227b80 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cc86bc88-88dc-4f65-ad34-d05f3d1e2667 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bae02ea1-5150-4a1b-b3c3-e0730fd8597c phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f9c6039d-8554-4d46-a732-7432819edb5d phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5d008aa1-4cb3-4f17-a47f-6627ae1c6dd3 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:50db2484-4400-432e-b4a7-039ce29a56af phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cbe9bd09-d4d5-48a5-92fe-4a63b565b784 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0c111f4e-37f9-416e-82ef-f16b2d4d34a5 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0009592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:894c6700-8e0d-4aca-bf63-fae51a0127d5 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:14cccf64-bce9-4992-a3f8-b6c153bc6025 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9e10316f-ecdd-4278-b541-5bb7db31467c phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1da2ff45-2cd3-43eb-8755-b0081887f9d4 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:95e31c97-20e9-4cc2-a943-cb04e1cf0def phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:496bdff7-f92c-4104-90a4-ad83f0e8bac3 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:66ffba5e-2afd-4556-8f2e-bbf40945b44e phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:513050f4-de69-41d7-854a-3b4d0ccf3f64 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:571818f0-4a85-41ae-b902-3daad0564903 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:541c1f09-ff32-462c-b99b-7455ea235b9a phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:db371648-fea9-4a5d-b7e4-a5ff66644e75 phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:69688b96-6773-4b5f-bc2d-7c1be5f4e76a phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2d4374f8-a3f5-4ba9-98b7-c6ff7fe1e4ff phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:12301ecc-1849-4a03-a77e-869bf915742c phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e3d1876e-4ecc-44a1-bd43-56656526a59a phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9520aba2-9c70-4718-858b-1be3a03d5789 phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6c4f941c-ecde-44df-b0af-92e269e28003 phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:19511dcb-979e-4437-a8b5-c198b8613413 phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:14ebdd90-c506-4b0b-b921-79e0dc567de5 phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b3f36398-dfe9-40e5-83b7-0b2bf617dd5f phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:5f6758e9-b786-4e1e-bf64-7645218fdd28 phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:0dc4dd33-e024-4d50-bc8c-f58fc84d2a30 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a3f56a89-3aa3-4e50-a361-028d969391d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:103f4d54-88ba-4462-b629-27f572b67fc3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8a660e95-d877-4a54-92f6-2a728c247baf phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:31ff0f60-9216-4fb7-8b1b-67fb3e00868c phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e46fd424-b2b9-44bf-bf9c-ebe6cee34127 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0365d9fe-5164-4e90-bd39-b5784e42ffc2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:590e8e96-d5e1-40c1-9075-72488a2b1a96 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3cd03480-b3f5-4861-8967-c64f0f5be4da phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4c3ca59-4915-449f-9a56-78d752345c16 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:163b6edd-b436-41ee-ad92-6be6ea94e579 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dab82739-0ef1-4f82-8b8b-b92e0f11dde6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fd5ff3b-d7da-4f71-8265-2fc08ed9516f phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d1d4248-d49e-41ec-b3d0-f43090c54701 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eea95a66-8961-4d8e-b2f3-fd037f8fb83e phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d45253ca-8bf2-449b-b6ee-dcd4387655e6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3224e257-0a09-4d6a-ad03-ea053bef900e phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea30c0f2-644e-4183-bce8-dd68b587179d phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a94e5326-cf52-4106-a88b-c2f92a79535b phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fb5d383-6bb6-4e8c-b3fc-32a9e2a1a296 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:15ab1d40-c971-4c60-b7e1-ceca0a18aff0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14e1bef0-8805-4cc6-8304-0d429a3c960a phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1cddb98f-2f28-41b2-a55f-3f1c20fa336e phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bb450f70-47cd-41a9-9062-35b6828bf381 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b153c513-a506-4866-83d2-5d68e86a50cd phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:aede1039-1ac1-45b1-beb4-480b80041803 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e9a4a11f-d043-4de4-9a25-7416045a4153 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:85d6e52a-9976-49e3-92a7-702c50c35116 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:15cf9198-4840-419f-bedc-d1bfe95bf465 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2164c4d0-d4ca-4899-92bd-2c9df24018f0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ff50f10-4d43-4fe2-9d43-5c4bb999cb69 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd068112-83d7-4a01-a25c-316a0aea5dcd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:75e2a23b-18be-4722-ae93-c7ae6c85ca83 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2c300ee-910b-464f-90fe-ea109850af2c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6375889c-b1cc-4427-b7c7-b86f89994cd1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4225facb-a624-46b0-8c63-42563b3944fd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c21aa689-589a-44a5-bd65-946c79bc4f83 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:383a950f-0869-413e-8f42-5601e695e4ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2e9c5e25-e3d9-45c0-a390-5f735fee7ba7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ca9ca3d-2b5c-40bf-9d1f-a87b7b4be9fc phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7850fa9-e58a-4b6e-acd1-1d72668f2abd phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cacfd2ba-8534-4eaf-aad4-b1c1a1eb1436 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e9b374a3-45a8-4adc-8082-b8a685e09c80 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:640325a6-85df-4f45-9809-d6757dcec6a9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5086901b-ec23-44e8-898e-0d9e4aae14a4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f8f2957e-c4f5-4216-a6af-648cf74c9b4b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7af17715-d6db-4c63-b3bf-d94f784aefd8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8180c8be-7263-428d-a9d7-831e2322eeae phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ac96c86c-83a3-4b4f-9c3e-bfe835ddf2e8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:66b04730-6a4a-4a1b-a6e8-f596145ba014 phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:461f8971-4558-4318-a9e5-34920a442bb5 phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0b960b83-4971-4429-8ac5-87336ea23d35 phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:db4f3049-edf5-49fa-ae04-7550094d3cec phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:3d215389-1e03-4432-a07d-fe682a4cb189 phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:80b2787b-799c-4e59-bc45-41a3f69d4e3c phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ba797622-c166-4e45-871f-0a9a5d1639af phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0612aac7-7820-4535-a1b8-0963d024f148 phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8e937201-ac5b-468d-a604-5d8be8303c32 phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:d26e6094-5302-46e2-a1ac-52ef50c4910d phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:00342066-3ca5-4d03-9d8a-9953d55e8b00 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ecbdc8ab-fed1-4874-aa66-f934cd814ba9 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6daba7a0-e4b3-458e-8926-0704170426e1 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e78b68f3-2443-4f77-9f73-b421d988aa02 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a33ef74b-cf88-4ed9-9f2b-f19873590ea4 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:132df0bb-c895-4822-92ae-a4158cf90e69 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8fb05231-d36e-48e1-a215-e06ee5a32f97 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5fd9c26b-af70-4a06-b3d0-8e06bfbc8f4e phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5d3dc2b6-ec13-428d-a7a5-856a571386ca phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d7a7ad14-2d01-482f-9c45-8b6ea9ae2aa7 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c6649e2d-cce8-4a82-937f-0ea8b2ab9ad3 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8d8759c-e604-41be-bcf2-8ab953c86604 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:27a7067b-4a51-441a-9ee9-684572e343d1 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f83569cb-9a0a-4cff-a524-f543fc229d97 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0ef5234e-f6bb-4b72-a40b-95165c99d15b phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:61128cc7-2b82-4b53-b897-fa0256f960a2 phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cf61b733-28d7-4151-996c-18308aaae3e7 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:90bb1667-5890-422c-959f-81a784cb7b1a phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4f759e6a-379e-47c8-89e9-bc1988aa89ce phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5acd323a-d0cb-4e81-a1c1-69231d934419 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:70c63dbc-372b-4c66-bbc1-0ca85d6aa571 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:76d098c5-09bc-4246-98d0-4ce422386a16 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0e75b1de-2396-48b0-ace7-e04f96ab23f0 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:686f1e21-58d9-4a6a-9c71-9bde36c14a8d phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31bac6ab-3d7a-484e-bf62-3e7e7a88dc05 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:deaeb36c-19ad-45e8-8c66-7accdb1a288e phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:882d3bd1-87d5-46be-ad0a-28e743411b23 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6436c8de-1ea0-406a-87ce-e265b0eac986 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:af85ee3d-505a-4d10-a257-eb4d218f45ab phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e80501ff-99d6-41a1-ba51-ee518aa9c1d7 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:79cbdfcf-07dc-4b4c-b5d4-565ba4ceaf8b phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:37201343-6510-414f-8c7b-045bd46049d1 phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a95ccb14-56f1-4f47-b3fd-e541859502c3 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b3871733-719d-49f3-8800-4780e31eb79a phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2c5c1e05-ce1f-452d-a5f5-d1cc08109f86 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:84e3128f-2218-4f30-9c7d-dfcd38f0cf1d phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dfc6b37a-2810-40cb-919d-30b383c535b1 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f9360922-daa2-4532-a271-fa572638c29f phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55089188-ae83-4a59-a70a-0021f17b0ecd phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78985c38-3774-4027-be37-eeb68c8eb95a phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fb5d2c3-1736-4717-82f7-41a5feecde9d phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4fb1c2a-c810-42ce-b550-05d2f766725e phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea3476d5-8b4b-41b4-85cc-c709c822ffdc phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b1c8383-617e-4744-9ff5-544d00719ef9 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:09de5fbf-89b0-465d-bb56-d51265823a68 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:48c2b427-b3a8-4d10-bf3a-6a4fee0ab19a phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c6a747ee-9640-46e3-9c56-d853ff14b259 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:132dd9bf-44ea-4b31-9553-46a56e241422 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0da1d9a3-20de-44e5-9c66-cdda856b94b5 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b18fd9d6-74eb-4088-a8d3-e534510aa554 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5d975c4f-2ac5-44b4-a387-246f78f01fbc phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:04b116ae-442e-4b78-a7de-5f1cb4a11df6 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64e75c3b-d4f2-49ac-8fa4-d0fc27c704d0 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c322cae2-ee4c-4586-86c4-3034778f11b1 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:839dfdb2-3357-4ef0-a681-e13c98496db7 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78692caf-1c92-4bff-a84c-b31849ff3d95 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7d9a32ae-15ca-44e4-bc48-e0953e38c89b phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f4bfe704-b15b-4cfc-aba2-d7721740865a phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5b07d6f4-d33a-4243-93cb-ff1327c60a3f phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7e5c2165-8a58-4abf-a554-d0f10237115f phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9b8a7650-5983-4020-b0ad-6cedf7017168 phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d9156844-9854-4bce-a63c-fcc651d35cce phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5d796758-48a0-4bb9-b52e-45388d1e1612 phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ed6c177b-f520-40c1-bda7-768a86850d5b phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:093e01d3-c8ad-4c3a-ae33-7f3984129066 phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31f4066b-c012-46fe-ab3f-a5958db173c7 phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7fb43413-146d-4d9b-bb6d-737c9dffb05e phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:145dbac6-4bef-4d04-bd60-e09d3d60da4e phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e1d3616-e915-4266-8ee8-faf03b48a994 phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7cabeb15-58b8-4907-b774-1807a2e77cdb phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a2811187-e1d9-40aa-a4dd-3715911b5cef phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:78548323-25cc-4f6d-8232-50700d7669db phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:df53f102-90b2-4b46-9f60-6542373aafd8 phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a8d4ff4d-2b83-4117-816a-169e22e3b834 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:8065379e-d7ac-4caf-a438-83d401db79e1 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:942a6d67-9c72-4f2b-8fa2-fa6309bd3f17 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d8c12384-e20f-44f6-af77-42e2c585b7a9 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b8930a3b-bb3c-4124-94a6-58a42da20d7b phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:afe24630-50e5-4a82-8588-cd48d6abce57 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8ad4c3c2-e4dd-4159-b489-5c7e3fc0257f phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:056a2fc2-c6d5-4a45-92c9-45ab81877fbc phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6997cbcd-6a1f-4e54-a256-c7cf6e7728b9 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:1f436cdc-252a-44b8-8c3d-d9c48000fe39 phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:0fe3efec-c294-4a2a-9f51-805665fa98a4 phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:404ddb98-77c6-459a-acae-7a82a646d42d phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:5b47fdbb-2c0b-4ea8-85f8-e3a0d8ea76cb phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f024c008-0093-4709-a145-bca3cb255734 phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8ad02ea1-14a1-41dc-bd58-4af33102baae phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:e5350307-403c-4ebe-aefd-bd8645db4fac phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:495919cd-c2e5-4147-94c0-7ee1c2a7056e phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:934ecfdb-b505-400f-bbc5-c84a26546bf8 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:288eaaa8-eb3c-4c3b-9fae-7a5b0c2f49f8 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:2be11c0f-cf49-4430-a673-fe0fc30d7ea6 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:bcc28d3b-c660-4992-83dc-2275af8ab2d9 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:1ff3ede1-48f7-405c-aad7-dcaee4a3f6ec phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:147fe665-3625-4c2f-ade0-681c0519a570 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:dcb905a0-3353-43ac-9049-3384f5943ee4 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:a9d098d5-85e4-4d71-962e-81622f8b990c phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:cf71a097-d4a4-4600-976e-5609327143dc phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d9bba259-c68f-4bf5-a053-c85d92f04c32 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9811e326-f79b-42bc-97f4-4f4748aee2ae phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:2b21becb-f375-4bfb-aae8-de1445a64d3f phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:0140b7f8-fdc2-4d9a-a349-b39d5e051976 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:99b8f64e-b111-46aa-8489-012f09dde166 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:13c84d62-b618-4a71-a943-b67b1e7080ad phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:2527f8d1-c7a0-4499-b068-cff92c9d8a7b phenopacket.store:NF1.PMID_38596211_individual_4 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:ba635ea9-6d1f-4cb7-8125-a237b6225676 phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:277e2790-26af-47bd-bc40-b15315ea7d0d phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:97d4475f-b945-46d2-bbde-cbb0f595b5fc phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4d23e4b9-e069-4043-86ad-c665a52bf335 phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ea3eed01-39d5-40a4-b832-a9d2f3fb844e phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6200038d-a249-411c-a1bb-2fd68a169a0c phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4ece67bd-2555-4bf0-9fe9-81fefe59197a phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c91072d9-33f6-4d6a-b559-457ba09750a1 phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9e75b2ea-bc97-44ab-a26b-3a2a01854900 phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:fc748d69-ee31-4cd4-865e-9448b70d2044 phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:0a82d3aa-59d9-495b-9d39-de5aadaf7bbc phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:5768beef-1e22-44fb-8cd8-a241ae0231e7 phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ff8aed08-61a6-453c-a906-fc7d4cd0d211 phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:78e9ae02-6cd9-4e1f-9430-7aea93d77428 phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:a5a7f37a-cca1-4f88-882c-ff745c51028f phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:34996513-b088-4b5a-b8a1-8aa38c04bb13 phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d8d6b385-9ace-4132-98dd-b107387d9601 phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:4155fdac-d431-446f-945f-fac0894d61d4 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5da21f80-e4a6-4835-a0aa-bc1fc1fa3b31 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:cd4c3202-6beb-4b37-ba49-159877aca2e6 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7a330d29-a5b8-4f25-83dd-1268dbed6a81 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b28660eb-2971-456e-bd32-03a87f0f6ce4 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fd4e7a66-4b58-42c3-9f38-78d4e205a345 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fefd4a4-b6f5-42ff-971a-2dce6c16083e phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64cbaf26-43b4-4578-aacd-9766573d1395 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9630c17b-7609-46f3-bce2-73de5f1d3ed5 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:280f1c8d-d7b0-4fa1-961b-a4963c5f24e3 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:478e940f-5010-4459-ac12-77935a32cf07 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c229dbfb-6f9b-48da-ab46-f1305df1173c phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02a7bd13-ba4f-40e4-a9e4-6ec81cbabeff phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab98ea19-5003-4f2d-91a5-4722a87bb6f7 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0f1f926d-a84b-432b-8dac-ad10b0680275 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fd677e9-ca50-4e09-969b-7ce8ab070204 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5e24e3f0-7a62-4a93-9e21-e8b5da5026bb phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ca799ba7-7ef5-48f6-8a24-39fc334a75a2 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a819b50-88a9-4d17-b094-4658c145127f phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f5f3d6ea-49f9-4a13-acad-5a86fab98dac phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f06de9b-b6d5-4e39-80b1-f464aef9abc0 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9bb99ad4-3b6e-4eb3-85bc-9a260c2a832e phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:330182d5-0c43-4727-b549-f2212dba964b phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:35abf386-3d08-47bb-a7fa-469a4636d516 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:58f6e8cd-2f5c-469b-9c2e-afa16d341e61 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4fb9e617-9185-4ad6-a5b1-2caa984d7d8c phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:bed09780-1d54-477c-a56f-c0832635338a phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:15f345f9-cd15-4ec4-a9b8-a7d2ca9793bf phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:992c9140-0131-449c-acf0-4a04c0e1371e phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3eca406b-4535-4df1-9bae-50bf8dc1cbe3 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:364c2b86-fec4-4b99-9c9c-c39f1abcb93c phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3040721a-4692-41e2-bad8-4600dbc8ec4e phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb3e3eb3-50ff-4b81-89f2-0f0fafcd0897 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5f2c2259-15c0-4d88-a332-bc2074812a50 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:06ea611a-cdde-44e8-83a5-6ba0f7825643 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e444e718-d0b8-41dd-805d-bf95f3575faf phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:629cd3a3-b0c3-477e-b109-2e86106a28c8 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6d25e03b-1eae-4d14-b26f-7a272061a6fe phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:03d21f36-81a9-4932-a78a-62c143c5f91f phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d3e4ae37-6fd6-4411-9647-e7a506da7494 phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ce98a2f8-09c1-47c1-a97d-1fbb3c92a278 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:cf6e84e1-059f-4519-9111-367f52f55a49 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0e525577-2530-44f1-92f3-39b65c736fad phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f185aeec-5c02-471b-bc63-40b131fa9e0c phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f3d487c3-72fd-46f3-9821-1159b2293723 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6a141960-3a7f-45a3-9e2b-a01ce7262662 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38caf1a4-a584-460b-b0ae-343a2740769f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc73842a-edae-4ec7-900f-2cb6bc80c04c phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fda96418-5343-4455-8225-9a94a4d12dd8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d4aef51-d43a-484c-a974-a34c02a3fb61 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:062fe49c-8ab4-4761-9816-7530933e8f39 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8982da72-2074-4b73-80c6-b7dbe691a5ba phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fed910c-ff1f-44d6-a381-fd7e6fc51a78 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ee7b332-c1a1-4b9d-948e-280f49826962 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:11a606f4-c240-4e9a-beb0-6b2969bbda3b phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c84df19b-6ff9-4088-be60-19d8ed796f0a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:10129057-e419-42f6-84c0-e75b7afddd63 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:75af4074-1c95-4efc-b283-73d4c11658ee phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:42d76920-429a-4981-a807-ba43c62663a7 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3ceeb20f-142b-44ef-a7be-03545e1af449 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:51ed7762-677d-43d0-9cfe-3014cb89aaf6 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:975baf03-cbda-44be-9fa3-630663d6be62 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:df4a890a-3f1a-41d8-b245-5e75a0619271 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a117274-2e98-4d8c-b527-c7725cb98986 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4d89f61-8c01-4e9f-b663-1d91fa08139e phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:81ab5667-3b49-46ce-9e5d-a2b4acf84450 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d4863f9-2912-41d0-a2f8-9e03b9218e8a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b28579dd-b09f-472b-a053-4925e05cb428 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c61fc5ac-cd64-41b3-abd4-157ff3abe90c phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d91ba4ab-1b48-48fe-a01a-7fa627fd641a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:431e4e66-3678-4af0-9256-fb87f56fe0d9 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:72425060-1584-4cf8-b571-9a6452af1e8f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02001b33-4e9f-4fc8-97dc-8bed33cd0235 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6d537996-ff64-4c7f-be32-eaaeeec830cf phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ed8863b-d5de-413b-a3f4-84c08cf8f767 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0b47c234-8fa5-47c8-8532-b11bccdd69e1 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4390cc83-5c3f-424d-ae21-c05a16ca9fa3 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d20fcd17-f7c8-4207-95e5-c12f867abb80 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6efa298a-3d45-4b0b-afb1-70ac4538e23f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:002ec4f4-bf0e-415f-bde3-f714c79b86d8 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:94347db7-9e6a-41e7-af77-b353773b248f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:fafe5f48-74d3-4641-bf11-bbee769c57b2 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e00ab810-6f0a-46fb-bc5c-dd4a49bbf8b5 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:bc3e4aee-db50-442d-94f3-cd0db4e78ba5 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1efec4d8-ad0d-4b23-8c06-073c9658107d phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9fe1c968-c85d-42de-b937-71eb4e4734e1 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:57fe4055-15fd-4684-91fc-71048726fb9e phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7376b5cf-2c20-4fa5-9c00-80f23ad7ab4c phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:968de529-46e7-4faa-bf22-9fb9329ac963 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c566b987-5a8d-404c-abd7-b32e19212e14 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:704ecb65-436b-458d-892c-dd20bab6f376 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4afca2cf-c868-4b04-b8f8-a1b8824752fc phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:69f63609-e9bd-4c43-960b-8e46720a4ede phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c13d7d94-3f2d-47f1-bbdd-e1a42024513b phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:945a55a7-98d9-412f-bf7f-8e38070564dc phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:84975f3a-a828-4d2d-b78c-6276d864c6ee phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:24f02cab-0f4f-406f-a988-62139b4242d7 phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:eb3230cd-9b66-4e45-aacf-1d818fab370b phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5f4c9301-1ba7-4d52-b7e5-b74474c36247 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5a1db25e-e19b-4648-8e87-8ad54fd6d7f7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1a9dcc14-8e71-4775-aa88-9adb0e7bf3b0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5d436321-5260-4e14-87a9-dd14a38802ed phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d3c1de5a-5d10-45eb-a485-ef49ea529519 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4c18e1c0-cee1-496b-b49a-877c10081b88 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1e9ed2db-348f-4620-bb0a-d93d5e99cf75 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b606bc70-bc82-470f-a801-40fb22a13eeb phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:871c8f3d-ff93-4034-9bd9-057d6721e4a0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02afe4fe-e4bb-4849-a438-546239c2867c phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d07a837f-7108-4609-a5dc-2cb1fc5bbab3 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f930d964-0ff6-49d7-9344-8112a1759743 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:84b5b195-b8b6-4f31-930c-6147d588fa80 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f1ccf8dc-7535-45d8-b1eb-a99c6d88300e phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:20bf498f-6629-45db-8b57-f6309e5bdffd phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:26bd8e72-fa79-4a12-a85d-374195936b73 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c83442d8-7645-4905-8158-fbebb6a2c105 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:13b2cd92-c979-4534-a98c-403b6a22e774 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e3e71804-3a75-40b2-868f-1ae1836699db phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d6c90a0-26eb-4dcb-81c4-79cef1a3c0e9 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:34a25267-29eb-4cf2-a89b-d41859f5e7f5 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0bf714fb-44b3-4c7e-9d3d-2785ae327b53 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:b4ec14fd-8883-4161-896e-b56690b90065 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:3dbce0a3-67a6-4341-ac5c-a1067bc8b412 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:46b6da28-a2f1-4bc4-84d9-d7bf050828bc phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:5feb3793-339c-4083-9371-36111169e8dd phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:56d5bac3-3162-40ca-b050-910091d0287f phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:1e94cd74-3751-461a-b875-ce29c7a5d3c5 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:2bf24efc-21c5-461a-a890-9ab6bddcdfc2 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:6f498a7d-3301-474e-b51d-34b93a381b47 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:28531cf2-d949-4c2c-99e4-440a79c78a4c phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:20bab003-99e0-49cc-ba62-526e9f4f4855 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:8f02e1ac-99e7-4d42-8b66-2c636cb23b1e phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9b8c93a7-b463-436a-abce-c756a83d243c phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:70f66216-b66a-4165-aed4-4e820e5e156c phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:38a91aff-6e81-4ab8-aed9-cbac75300346 phenopacket.store:NF1.PMID_38596211_individual_9 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:e02a8cb0-bfa0-48c1-9908-9ddc987a6d72 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c1e668c9-5b7c-42cc-b7c6-5d996f7961fc phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bc1124ef-19cb-4eb6-a425-701474d1733b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ec1d2725-56f8-43a3-8648-45751aef68e5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4e4c0bda-3e50-4206-b3b3-4aac97a0cb72 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fb84f090-53fd-4b85-913b-73a087e3b936 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:225d4734-d2dd-4ef7-9e2e-36ec300778f6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:29ee0073-89b7-485c-a262-a783314f172b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d625783e-faa0-4ddb-99e5-bff7294ddbf9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6fbf7ba8-6b8a-4acd-9243-097f10865ab2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2249c2c2-b504-4bc8-bec5-e491e01060d0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4f8f6926-a8d3-4ae2-bf2e-59830d45438e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0db87d46-dda0-4e63-ae77-aae322b4fab5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:03643c9f-d1e6-4779-8bed-c6e68f5b88d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d042860e-6a13-4a0a-9281-f8f3b49a644f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:684e6ad5-81ef-4c76-9d4f-a5d873ccbabe phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3efc4a19-b75f-46db-bc12-64239e49c483 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14426140-bcc8-463c-9d83-1e8f3c9e11ea phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37f28a7a-7ffb-41ab-948d-8433735c3955 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d58fe13-f575-426a-b5d7-1fada4e903b3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:863acc1a-026e-4804-817f-cfdc463786f6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82403065-7190-4228-9b34-df01c78a4f02 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7d31fb84-1398-4567-ac7a-4d077c85fe56 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c5b4357b-e455-40ec-aabc-280108505692 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6b17e8fe-c948-4b0b-abd7-c0ab94936aca phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:98f1d78e-5e2e-4765-9d54-e559962f52af phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:071ffce7-0fd7-4613-89e4-b131e3862fac phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:bf1967a1-d255-4558-a82e-e0f25fc6fd24 phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:c7337079-6027-4ff2-b988-2e8691a291ba phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:b0e565e8-172a-4ea5-b810-777f33ddc0b5 phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:3de1ccb5-c323-415b-b6db-55a587944d33 phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d9a697c2-2fc4-4ac2-8474-0eb5bcb25e03 phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6cd6869e-3c47-47f5-812c-f58d050a7f3a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0e8e0453-dfe3-4be7-91d4-a9572095613b phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ab875b58-412d-47ba-af53-e5e35b6b3a3e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1d145b2d-7c6c-4318-a868-16eaf4f6ed2e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14b26b27-707f-4492-bd55-1d7a8aa8fa0f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6199d36e-d8c8-457b-9bff-99876ed0e512 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a89e6ac-b32b-4f19-9b0f-fa2f33c09ff1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b06a0aaf-c85b-4a4f-9214-225b0bc9f223 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1659854d-c49c-4766-b6ef-ddaf90791133 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02fa18ee-c778-4487-98d5-6abc156ddb62 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:835251e2-411f-4d7b-adf5-cb0c609a6e1e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:18ce1e7f-ff1c-4968-9cff-fb1fe1d4b1d7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c3e20cb7-bbaa-4a23-934d-a84e6876a0b8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dce9354c-e15b-4194-8be9-7c72a8c09242 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e1779aa6-bd8a-4c69-878a-73022ffa2558 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:97e331bb-bd40-4837-92df-4c26ac79ccb2 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:8c9b1279-fb46-4f7b-9e95-27f8430c5187 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2a9f989c-44ab-4c0e-b290-f5964469e14d phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d02e236-a87e-4c73-ac1e-4d1d55c2ecde phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:07627be2-316f-4abe-9cb4-1900ea1705d2 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b44a490-526b-4428-b62c-947f8eb1aaef phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e1e41932-01c3-418e-9c89-73437f556d7c phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8257e8ba-b933-46f4-b32c-5f8f51f2ca8f phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:60e45fc4-5634-434a-86b5-6d45d6efd091 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:717b0b88-05d6-436a-b128-2b6e0a91733b phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2f792c68-eafe-44fc-81c8-4a27e6f6a9df phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f2577dcc-d4e3-46f8-9625-9558624e9cc1 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1fca3c14-bf56-4200-9bc8-c6a60d5057f9 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:efc46952-623c-4443-9caf-9c26fe729113 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6721496b-ebea-4256-833c-c24053f02ba4 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e8763cda-fe6e-4c73-a985-47872c38e371 phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:fed2ac76-874b-474b-86d3-d738229a69bb phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:d448b2fb-83e2-45db-9c60-7357a35eda2b phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:48f9daaf-f0e7-40bf-be55-c3e76d718e69 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:57023a57-f6ac-4edf-b2fd-443acd05895e phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fb4748ab-f442-4935-abd0-9c1470be8c56 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b38cab19-ee73-4b42-98a4-5ae9cc6584f9 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:73396c9d-ccef-48a1-bb89-1665ad83abff phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e253f63e-779b-4a20-ad1c-48ecefaa9edc phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ad89d99f-9a67-42d1-bc84-bfe391e12692 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5fd3e115-1777-452b-ad2d-59b248e2dfff phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7f3de31a-0570-4a02-8d33-e69b55ee6d01 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:522d4bce-91ad-485f-b5dd-7fe54714e443 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb914c68-315f-4c90-9478-68e1b63a387a phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e9d496df-1536-45fd-8dc3-9155238734c4 phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ff5774cf-4383-406b-8c19-42a46fe4a7bb phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a64b0518-c4b2-4f29-a1c4-c1d7ee467d0e phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:46dbad95-414f-4eff-ba80-aff8ff9df168 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d2fdbc5d-1f3b-4704-ab1f-9f1e4b45be49 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4302bbf5-888d-4657-aeea-21b3ff1985f4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c11e75a4-4a2d-474a-9e35-a8a452d8ff99 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2e62c844-84bf-40b9-9d37-3f34a0406bb6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1837bb3-5f26-461c-83a4-e61ac9e8ac1d phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2917e18-6137-4967-b8e5-48299761d7d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c10e2849-7ac6-4ac5-b164-eb77f4c650c8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cdfb5782-5efb-43a3-92cf-47b7992a0d32 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c6db331a-1c62-4844-abdc-039ce9aec0d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:172c72ad-7f30-4b18-98e0-5d2e75b26b42 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0bbfe155-f480-4e44-82ba-294aa5f3e27a phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94555505-17fd-416e-bd40-eb9cd2b33c1a phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:16f648fa-9356-4891-aaeb-a2d6c2b5e31b phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5eda2d39-6c6e-4ad5-84c4-7337d0511358 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:13b7d074-0b78-4bf0-b172-912e7ee82e12 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7913b9f2-1f26-4d03-a12f-653a9c276009 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7d90d8b7-29a7-43f4-87d4-ad4a08e2a1c2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eeb61031-f002-4feb-b4bb-a0e4ace38ed0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:26c8f881-77c7-4f88-af4b-abebe59b6d5a phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:20a86a23-657d-42ac-9e85-27c9d5072bd4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cd052b50-0af2-4195-a89e-243988e3160d phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2e29a72a-9582-4017-96c0-e752c5f02e95 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3abeb88e-f3f9-49f5-a82f-261008f393c5 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:540811ca-87f6-4e4f-b700-2c8abe39e11d phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f8addf3-44cd-4b56-b270-c9dbc906ee3e phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0531ee14-086a-4f4d-8323-c084ba23d14b phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:de0172ea-8bfd-4e15-a377-dde565caae2b phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5cb86f1a-44d0-4cd6-b8e1-2b92a6f3384c phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7ba4ec9-1d24-44d7-8934-4fbaa6daaad1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f260910-0e44-41ca-bc4e-c3bedf18dd3e phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a08593cd-fe8c-4dc8-8bf2-6d8957bd398f phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:540374e2-aaa1-4bae-853c-b482023f17e8 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1b7f04b0-b409-47cc-bfbb-611e51ec1319 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b862c0ed-3f62-4e60-8889-2dce8a1a4be5 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35e7dce8-5268-4fff-b98e-202f9aaaf5fc phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f1131145-7010-4913-b9cd-c74e968f5f4b phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:117eeb18-35e2-419f-bb3a-942de6ec2479 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6706747e-dd1b-4992-94b1-30da5b0b40f3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4af9d429-3945-47b1-bd48-867b01450655 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0185ecea-0e7f-446e-821c-cade06a459c3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cfffa1db-a977-4efb-85db-4c760a8aa314 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:620d494c-215e-45ee-91eb-02abd2cdecdf phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e90b250-d6c5-4525-9216-0b7683d36ee8 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:06f7caed-c7ec-4f25-907e-cb6f491fb589 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:45fdadda-af64-47fb-8fc8-85bc12950f30 phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d0e78bea-1a47-4b90-8a98-7a88c570b590 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c7c26167-f71d-406a-b153-84c3559b9797 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bbc1f17d-83ac-4225-959c-f28618642894 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d866a85a-4ad1-4100-8fdf-722a7bb770be phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:daf653d9-7d25-4256-bba1-cf32e5c0420c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:205abf91-d778-4b05-9e19-a080143b5c3f phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ffad0713-75a8-4c05-aa78-b3e31a9761c2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fd72601-65c7-439b-95ca-16d7a8f7cec3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a3a0d82-a900-4414-b522-be1822945ea9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d458d268-711f-48c6-8603-9a76b7942cfe phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:48fb6c67-c98e-435e-9e1d-0793c1d2235e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a64d3dc-c2d2-41cb-b71f-511d1e188492 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38da89be-9bdb-45fd-9ec7-9938e77ca739 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4940f9f9-79e9-4ea9-864c-dd24b73fabcb phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:938c09c9-c096-4f93-9f54-ec74b8b8eb9a phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5910ba8f-af8f-46f0-bf2b-5c0feee4a7ac phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:58179b82-20fb-4783-9a29-9745ffde3130 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9c18d3cc-dc13-45ba-9238-200f7be2996d phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b7d4bce5-3242-468a-a942-7b0aed57d0c3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f9c54cae-3e23-4693-95a0-16e6d1e2e949 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9806a5b2-f97c-45b2-80b2-27d0bbac7df5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:58c5ed90-4f2b-44ae-9308-22dcfd95ab3a phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b739f6b0-2d89-4eb0-aa50-d117b96a1514 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:934a16bd-3112-4cc6-912c-06825656f619 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:ad40fd86-420c-4572-8d8c-02bebf176fad phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:41c00218-619a-456a-adaf-92da86fa7212 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5bea383a-3a57-48df-a266-47895f79c815 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d2055acf-2513-48c8-8ca1-f35d79d8e4fb phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:becf54d7-12b4-44d0-82dd-018e56884781 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f486b7b4-be38-43ee-bf68-76126af3513d phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:cd109c73-9c73-469c-bfe7-a22fe064c246 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:022e91d8-8621-4b3a-b324-11a7646e72d9 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:7a64efba-763b-48f6-840f-1380ef801cf0 phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:8ecfe79f-c508-431a-8292-7fda2fd66249 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e44c9623-70fc-4d2d-ad8c-52582a0bb844 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4f54041-4bfa-4539-8133-d8692ba42be2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55b26030-9d90-4b3e-bf38-95d94c9dd3e0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a1de75d9-3025-4adb-a09c-e82c7d5a198c phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:36dd2f0a-cd08-4e5c-b540-4c27cad7513c phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7c2b47f-4420-49e8-abef-1b611763ce62 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d9217593-59fe-49f7-9e61-54c43dc547d8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6774689-bce2-40a7-a4b6-90a870d5b66f phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8d6bf39-d696-47e0-ab79-758df0203667 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7dfc5c8a-a255-40cb-b9ea-a8415502f0ca phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8c0d5cb-da64-44d3-b078-f939dddccb0c phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8b84add5-a3aa-4dc8-b004-80c6a41ad22e phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a9a363c1-b513-46d6-9a2a-2db8674fbc24 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aca2576d-862b-46cb-8364-658e95cfbb89 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d616b953-b483-400c-85f7-011e37425082 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:03177261-ff8d-4eed-92ec-1161efde86ef phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:453ea768-39bb-4b87-afbf-557a319247da phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f868ecc-1888-4dad-94f2-9505265f6ed7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8693d361-cd4a-469d-a678-55e1e79bc53d phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69db4f8b-13cd-4a00-b021-bba2e44cef01 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa35adb5-1295-4d20-a205-b6e0534c1e10 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c3732360-a6ef-465e-baad-0cc0cbc3887a phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:922d23e3-8ec5-498e-b4cc-a16987395324 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:53292c2a-2c28-42ef-b7f9-720a3d90cb7f phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a007bb49-c757-4359-8431-5711b7146978 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:786958cc-19c1-406c-a41b-d97e8d420415 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6c9383f4-cd92-479f-bc59-f90a1b0ce6f2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e0b70998-f571-4b7b-9572-033870bc71ad phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:803859a3-4063-4adc-bece-a670683a3717 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0ae00ae6-34c0-4d47-866b-dcc27173c1d0 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2b94be36-7e3a-4acc-8d8f-705715c13dc4 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fdf2e1a-fd04-487c-aff4-2e3a65ff8c73 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a06e03a-2563-4320-a1f7-31b48601643d phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d216c24-96cd-4404-9fc7-eb6d05baa3de phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:74c6a7a4-a56c-4535-a92e-8428a23ca191 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:04a9ec7c-f209-48a9-82c5-4b8c0fba76f8 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97d4ef71-0b6f-4072-8a39-e76b33595d42 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:902f061d-87e6-4093-b86e-2c6a9fb775bd phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bd446769-2c3a-4537-a0e5-7433a31ff330 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d59bf3a-de2f-43fb-aaf5-65914ab7f0a2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eb97fbed-74c9-4697-b1b9-e1eecf823f37 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f780539c-d815-4600-b362-3df5f75bb93d phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:93622ac2-9b68-4883-ad70-73eec536b627 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:339538fd-7d4b-4a9a-9776-b0aff892e72a phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68a66c35-b7fe-46d6-a406-9e185dd1c2d7 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:640faf12-0db6-4f3a-bacc-dbffa3e31ef4 phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7ebe8bbc-bfbd-417c-ad02-487803d2ae7c phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b2482add-3af5-4c3a-8059-b9e49d65445d phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:60dd0c09-773e-4fd9-8ca6-4994ce70b911 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:dad20061-a981-44d5-95b1-f8f75c1b6d4e phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf858280-abb6-49b9-9685-3354a76d5403 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:add7ee79-42ac-42d1-867c-709b5c156ba2 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6c9ae261-94cb-4b48-bb97-3f183d09cddb phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:68dbffe0-ac3f-482a-8896-2faea3e4a3df phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:adead22b-ed97-4d71-bb99-7b2a1fb30a87 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8a97e9e0-d16e-44c0-a5e1-757b41d64e8d phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5c38f2cb-9932-459c-875f-552deb9e6443 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a28700c8-de45-49d7-96ed-4f8e10d272ca phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3ada51e8-2832-4ad1-92b4-0cf2eb7e1283 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d387d308-3184-4c45-a6fd-228238628617 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:88a98139-cea5-4798-afc9-49b9d6d995ee phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5d596f80-2124-4066-b41d-e13ba1695302 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c472673b-72ab-4ec1-a0c2-c189c70f2796 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:017623df-6a6a-49e2-a1c0-bccd3453d0a0 phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5d4d30c6-3a0d-41b3-be11-e37c292ba144 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1de369b9-f984-4173-9a6a-51aba558f45e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:be48d4ac-89e9-484a-baac-61b0fe1be232 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a69ef7de-deb4-4b5d-b586-d7b8ff5bc453 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ca7a63ac-6ced-4f7e-93fb-811ef0494874 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6ab1a27a-dc4c-43f1-9233-95d5d7cfa22a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0c8a5e8b-6d74-4b2e-946b-bc95fe7816ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6d3ebd9-f9e0-4583-b44b-d3f01b59235d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e87040c3-4c42-40fd-9c26-ecfcb1c80124 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77bcc2c9-2119-4955-a942-844dd9838c3c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e51c3983-819e-4456-b9f2-6074cdfb8445 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dbf9cb3b-f1cb-496d-83ad-f0b5c330144e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ed85cf9f-d016-4490-b174-5127dd37a95d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8787387b-4c2c-4e1c-9741-adc43ddb512b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:07327e34-d17e-4413-a2e6-01138f418752 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cf0365c2-f1bf-4f37-8361-a6e8305f7398 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3c6c35e-ae94-43e1-845a-b6d40bcc7282 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a0895dfb-1502-45db-b242-c0e8629a1880 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:34da61cb-f27d-4304-927f-7de4fe5a1dd9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:319b7ea2-4e54-48a0-8a17-11e9e4d32e16 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c642a65-ba20-476b-aa4f-71a24b3998fb phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:986ccbbc-5a0a-44fd-b52c-d9a5a70c23f0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3e41b068-5abb-4757-b752-eb96ddf7ff8b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:953d428a-aac2-4d90-9ee4-ff0d452e8391 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:77978053-86a4-4373-b0e5-4d6dabe45661 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2425__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:05ee6ec0-6c6e-4771-ac41-558182651add phenopacket.store:NF1.PMID_29290338_Family_UAB_R2425__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5778abe4-7767-4bb1-8b88-6860d22eedca phenopacket.store:NF1.PMID_29290338_Family_UAB_R2425__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:99f95800-cefd-46aa-b45e-dd5915cee837 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:3cb0a0e2-6bfd-45f5-a2d4-904c1a0d88c5 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ec2a60a9-6d2d-481a-9dd3-8696a92adbb5 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:06a361a5-769d-4332-849f-b03ea11e80ce phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:842ec5dc-ff42-4b7a-821d-980d78d780bb phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf1766c1-fcc0-4729-8310-b450fb8e8fc5 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:214db923-fc07-4ede-8769-ad92031b0fb4 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9eb41e5f-4c99-425e-87b3-df8dfea6eba3 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c7c551ad-03ed-47c3-9551-c6ba6d2eb743 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5c35e41c-2d52-487e-91d9-dc6ecb5824c9 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:635f80cf-da1a-4955-bedd-caf95ec26628 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:abd045ae-f049-4a13-8dc7-28685c0837bc phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0c1bb809-132f-44ac-9c66-ab2975c4c714 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ae944ff6-8e55-48ba-bd20-a317e5650b4d phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf0aba26-be5f-42de-a4e1-86f83b0c03d5 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9153a5a7-8292-487a-831b-2c2051e04fb3 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:eb37d8c0-01d6-492b-b8d9-1f8244be55b6 phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d9f656cd-78ec-434a-9181-b000599289be phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:151dc126-3df9-4f00-b182-7268eaf39bac phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:007e65f8-1670-434b-adfa-07748905d5ed phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:07f91549-c7bc-4038-8364-c1f60bfd7191 phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:a86e6e26-fd19-45c5-97e1-38ce58585f37 phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:fd41f522-a7c8-43f4-9ec2-04fe072d0ec9 phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:9abf189f-7d89-42f6-b513-77256547bbab phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:0f3cecb9-6627-4ae5-873b-3075d312b156 phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:238dc4ad-06e0-418e-bfda-e01a4aa68d7a phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:34ffe25f-4892-46fb-8b49-2db0a0713f56 phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:3f93f6eb-1920-4d8e-a078-cb15936006d6 phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:dc1a88d2-fa8b-45c6-9a33-08980bd0fe9a phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ea048208-9fee-45bd-85bb-f1c4d8aa3a5a phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:9dd66004-1af6-4ab4-b7ac-d7ed610831e4 phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d2022fdf-179c-4ca6-9e84-74dd01d6da82 phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:f422776e-3b9e-44e9-8490-06f7cab04f91 phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f7041c1f-cc9b-4631-9555-30ec84c194fe phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:d36c636a-7eb7-4362-87e6-38f44612aa81 phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:66adeb95-0236-43e0-b9f0-036fe39445c2 phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1ff143a5-3383-4cad-a56b-be0b6f55c49c phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:76b6330c-121d-489f-a891-86686c02790f phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:020f84ad-13cb-4c4f-879b-675959f3299e phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:21775460-6e13-4e6b-b2aa-f1b7ff6e2486 phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:b8131e81-7197-423a-bd15-97e349e577b3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:166be03e-d540-4012-aaa0-bd38407159b3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a62537cc-2f1e-4262-9eb9-94d013705d9c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0b77d2dd-98b4-4194-964f-4b170ef07dc5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:71988644-fdbe-4380-a438-47a2f1dfed38 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8de74b84-c20b-4f4f-9d33-26db27961525 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d3521cec-8274-4a12-b2f5-5003520f70ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7ee25948-6190-4aa2-817e-ec5c80847624 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e2970bb-d843-45e9-a8d9-36b4be457938 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:749f04c9-2fb9-4ed6-8e49-9acf613a38fa phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:142315ed-f144-4b08-9ef3-557bdb144594 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0bcecb87-718e-4af3-b3aa-36751ddada30 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:62dbc9f0-00ed-47b5-9abb-68cafcad7741 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f57f5ea2-1764-4428-829b-a46039a7f851 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cfb9e750-b9fa-444c-ad85-4108745a90a8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:54f20c06-a350-406d-8f96-b3762ab58fb9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:de1d2947-20d9-43c7-954a-8f6f6382928c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:feadc5ba-55fb-4d7f-9a6f-d88667929639 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c440845e-77de-402a-9411-e105759c4055 phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:79eaebef-17eb-45db-95bd-4e22dc33663f phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:d6fb24ea-93a5-4f6d-8be8-be83e509f675 phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:ddccff33-a264-458e-a66e-e61da9f09b45 phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:a14dc77d-7eb7-4aed-8ffa-ea2df9d0024c phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6fa546fb-a738-405f-ad2a-cc4150b7356f phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e6164043-6eb0-4cd6-a3e6-f40332340589 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9f4a8734-6d0b-4e99-8008-97f534c715c3 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:fc5a586b-4487-48eb-a589-b0ce00abb0d0 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f8548c25-85bd-426c-a5dc-0439bf79eb99 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:244a4090-511b-4f02-9ba8-cd5ddb7e8a7e phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:71f214fc-b4ee-456b-a76d-624fe8cb02a4 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:81b3f831-cfb9-4cd8-a0aa-6e73cae67630 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3df20e91-f6f1-478b-9e7d-ca17af22425b phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ee55df89-3fa2-41df-ae07-0e9fc43a233d phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b2e7bf3-4df9-445f-b87d-f3a6e94b26a6 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8fcc96cb-92ac-4249-beb8-1323c4edb425 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:74337034-6c91-43e4-a409-2bce3952155e phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c3f73f18-8877-4c30-85c3-a5b828b310cc phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c9a6c1f5-549d-46ad-9f3e-4583e4fd2969 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7c2c7f9a-efa4-4528-b8b5-afea575d8c30 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:752ef0b7-fd28-4ff3-ae91-c280c5621af0 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:bbcd740f-8b74-4a18-9102-ab36936547c2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ce019800-c683-4fc9-9b20-a1288f50d09b phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:eb6a5711-f900-4ffb-8faa-30c68e1bc1d2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:414e34d8-578f-4223-8a11-5e09906536e2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6c057fb8-fa56-4111-919a-40adaf986417 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:405f592a-9afd-457e-bd91-19e74a4dd8f9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28e0e3bc-14fd-41fe-a4a3-069b37593ec6 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63de8a51-235b-416b-9e5e-f2ea6d1236ed phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ca0be307-7ff7-4d6a-b65e-d806f01849c8 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4b367d7e-d44f-41b7-84f8-ac7bee51d302 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:71c135b7-9a63-4d71-b130-901918bf7647 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ddebcdcd-8b70-435a-b025-14c6bea6fd3b phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:786c6d98-2eb2-4f1c-821a-80351f2cebb9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7d39cf8e-da47-4fbc-a336-a9382e60dc1c phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:acfad1f5-8a5e-4897-b17a-6b13951d5b2b phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:629df9c2-4226-48f1-ae37-c24a2cf69519 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e2197f1b-f3c0-48a7-86e4-e77ab1901c07 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e191273-344a-4513-b8ab-d3b68d3025d1 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7715fa8-4b28-4391-ae2b-7394dd0b5862 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5fdddb3d-f79a-46b7-ace9-cf542822e218 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d34374c0-75cf-41f2-99ae-1e593cc5625b phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e86aff6-3880-4ef8-94d5-b1b49bb4302a phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ead76b08-d3df-404b-9c8d-a4fdc2bfe08a phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f49d2de3-adeb-4c27-8b97-ec92569e7495 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a217b604-aa63-4bd8-a920-4e14fad48d55 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0ff0f479-da1b-4ee5-b8fe-625e32757061 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1c94d191-05b2-48a5-813b-f5db27bc0b10 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:53c7d58a-d149-48ec-a482-ce4cfd16006a phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:773f2673-4a7f-40d2-a4ec-8a325fb2d37b phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:67b74822-c3c8-46a4-85ea-906b0519562b phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:66f51233-017e-4120-9a56-baa5adca8a96 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d7ab23f9-7d3a-432f-a7e0-299878f27595 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:116828a7-fef5-498b-a4dc-6a0da18f6a38 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:34157518-803b-4cf7-ae8b-c11f56dff227 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6c819aca-e403-4334-a700-651b62113b19 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1abaa0d8-f3cb-4d3f-92e9-9a3f5bf7ea55 phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:dc5d6ef7-5636-410b-a9cf-a9739e27145c phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7b6dab72-7469-4281-bbcc-7d09c2037f28 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:40fe714b-ca4a-44d3-9315-273a71707d04 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7a8a9933-fdbc-477d-9903-2356846da650 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3bbbca90-2be2-4fa5-937f-c713a7b0094f phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:941f07d9-d068-48bb-89df-316bacc3ac62 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3be5f956-0496-4bd1-b46c-a554abf6c3b5 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:25595a64-14f7-4b69-835a-5615683b266f phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:47b3a411-0c11-410e-9418-01a985503031 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9ce1f2e2-8d6b-4822-9eed-e56b95f06be9 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b0b88a99-6b09-42a7-9e08-4edce5e5e74b phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b2bec9b7-a357-4e38-9669-5eebcce96e92 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:93103e9f-f97b-4605-8140-1dbee7070011 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f239fe7c-4535-4bce-aa4a-7f812551e1f8 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4cacbfc7-6701-4421-bdb4-1b421b376f56 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ef206e84-146b-43d6-a54f-c383478fd306 phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0cd1f89f-e143-4087-bec7-ae0c8a8128ea phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:68b5ac18-d2b3-4e69-93f8-56956e741993 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b5bb037d-2c36-4509-90ad-dd302c7e14e0 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:10b0fac0-cb05-4e14-9e36-5405310a230b phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:be2173d3-7b02-43f1-8395-d81fb67300a9 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:def59207-f2de-4995-b7f8-5110b62d94f9 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5f6342ad-e5f3-4ec6-afa9-a112845d2da0 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6ae3fd25-36e3-4dd0-b1b5-236e0ef47d01 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d62be3e-74fe-4879-9a45-c685435faa84 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ee413a68-f92f-4a00-9173-87dd5397a625 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d76a7a93-8e68-4676-a640-d9d9a4287f57 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5d5bea5b-310f-483c-8dbc-f11c84ae5872 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ed78a512-fda0-49e2-9b48-ca07146f92fe phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a3124140-f5ca-4b4e-8037-a527fdb1df96 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d2749d8b-2e82-4c69-8cb4-80da5cc33723 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3a8391ea-abd6-4357-8b92-4653958bdc6e phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7813230b-73fc-4168-bbd1-d6d5990cb409 phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:8266ca99-cd87-4c97-a696-8506d3bbb505 phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:33b3357b-3b43-47d6-8d87-5286caee3b95 phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:68721338-f519-4754-a34a-561521e01c38 phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:dd3d688b-f3fd-4188-83b2-5cf20b6318bf phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:a02d2e54-e2f3-4d27-a8c5-cf18481569e7 phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:123447ef-7851-496c-a0b8-c0d6cae23b9d phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:dd571be2-7661-4d1c-aa64-3eea7de28b83 phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:67d2f83e-c5c4-498c-82bf-8cd5050165bd phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e71439c6-d504-4655-9210-161d2c4cf300 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0cd315f2-5eae-437c-800f-6ce4c9111443 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d4b2cfd8-afeb-42f3-b301-b4999d7d3708 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d4d41f1-fcb0-4d40-8ab9-6b26de4f647b phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:88fe58cd-59a5-4277-a590-0b1a230fba12 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e68eb77f-3c81-4e67-bb72-f520686e079a phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:587e0f03-7319-49e8-ae17-d89d79af5571 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fcb87ec1-14f4-4c2d-a2e2-3fd849df90b7 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ebcd3c4b-bc24-4a73-9ad2-5dfbdee4b7a0 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:29bacda0-3935-4601-901e-a665c5b1c17f phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ca338cc8-e99c-4c99-a41a-8a7e4344900c phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:fa02041e-8dc7-463c-ad36-56673ca0d491 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:dcd23c65-ba79-4df8-b221-5196e76db0e5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d8593b78-3d52-4dab-afc1-28e2030d3e1f phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8b2ecbda-f7f6-4271-930d-a030d6a37068 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3efa6953-fe8c-4b43-bb30-47d860cf9614 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c8cc7cae-9068-479c-aef7-ceae284e37f4 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dd65ec58-754a-4abf-8dde-1d7e6ca2aaa5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ef99d54a-2627-4c85-8227-4381375b49ce phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37bb5c37-c64e-4258-838c-8b371a6171d6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37d45756-241d-4a19-9ca9-2837155855a0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5fe8ba32-729e-4210-83c8-60dac187a8f5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9ea61c19-82f7-45c9-87ef-f7c0464fe8b2 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b062f87e-b16b-4e82-a7cd-d1d012dcec1f phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b4bb75b9-1431-4633-b918-06e2328e726e phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8354c5fe-2f2e-4650-96c9-48c18b229c33 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:304546f0-b3bc-42cf-b81d-9d2c9c5fe6d2 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:83f08b48-9778-4062-911a-04f1a25e51e1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:21215221-f894-49ed-96cc-279d07c6948a phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cac9aa18-32b0-4b70-8497-20518c7a9d1f phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7f30db29-d748-41e4-b4ba-7a8d3ce4bb7a phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:65b7c2a2-911f-408d-a033-003b36a87fdb phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c68bb9a-78e7-465d-bddb-653cb8b0af99 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cde1c3b-154b-47e1-9906-259784882457 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:13500d85-8fb4-4136-8ea3-331eb666053e phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77b1ddff-972f-4ccc-a7f5-c7fa1a70a758 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7f989c86-075a-4ee3-8a08-0d41064f9291 phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c247d574-861e-4cd6-98b1-5f01755a6eac phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:91e88a69-35fe-4fb7-9b6f-15cd7358232e phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:12e8ab68-37a6-4143-ae92-06ac72f6fed4 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f54c5f98-79d1-4ce0-9be5-db1a16d88e89 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b4b47d67-9941-4d04-aca7-caf65891db21 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:09acc56c-f908-46c8-820b-7c9fedfd361e phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:961b7c10-80ad-435f-b223-96c760fd899c phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7f5033f6-c02c-4a37-a31a-32b900cbb606 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b353c658-a5f5-4512-b3a5-184173c4140b phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:59847ed0-0cce-452c-ab94-83d023d178c6 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:24145343-1882-4c7e-8d8b-7aa186d186dc phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2ccea5a9-adbc-41ef-bd3b-0cdc98417975 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6f7d7806-0c6e-4763-b577-7781e6c88795 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e0dc789c-6bf8-4384-8e52-481c80203461 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:63a1ec55-8d09-47e8-818b-3d8dddd53b19 phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:2f471078-d5a2-49b5-b380-f085935ecb3b phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f495ae28-67c2-4ca9-b676-fa4a78d19f1d phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:52a23981-3129-4485-8de9-1b318423cde6 phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4edcb33a-4d49-4892-81ef-78c59b92e21b phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:38a61b71-24bb-49fd-b079-eb9f8ef5c133 phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c7a3fbd2-9694-4d53-83ad-6936a4811348 phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c6c4aaa-8d70-453a-9907-160300da1087 phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c3196b6a-5f7e-4968-84cd-a03ef06478ed phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:47fae9e6-9137-417e-99b2-26941083869f phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cd7cd6da-5f4e-450f-a821-461d954e1696 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9c554ae4-fe70-4c74-b5a4-476e0c1e0486 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b537974e-457a-4c91-9c7e-5563a9de611d phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:17d77cd6-1294-4d5a-b38d-ce68e8780adb phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b314452a-6fd0-40f8-9454-5ea987f98d5d phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c8d5d164-f2c7-4ab0-98c3-cb3f8931c8c3 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b54b44ef-218f-4a18-ae33-7a3aa760ce5d phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4cda614c-84d4-4415-b926-669dc5740660 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7d2feaad-6958-4965-abc8-90002a56f2c5 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fb8f2d63-0186-4516-9551-1244cb2bbc13 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:014c6953-9806-4e34-9c69-247f5485373a phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:211ea39c-5566-4f69-96e6-4e8cb3af9c64 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0b91f12a-b172-478f-9ffe-1aa5182aea48 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:08cd481e-fe02-4e35-b4c2-eef93345fa78 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e0b3639c-1edf-49c5-962a-84d173e7924d phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a23b1a97-8543-4266-b466-7ae945c0f24d phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8b32459b-9454-4fdf-a8c8-0fd82f8e8c9b phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49c71809-1865-4af9-8619-09e61c399aba phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f17609c7-dbbe-4d58-80fc-f8f71226c4df phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4711be76-f827-4452-b9dd-957257ab112b phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:717df476-b80b-46d8-88c2-1483ddd50590 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cb9e9446-2dd4-4b34-82ca-1e3b9c748834 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c6022c2-58a3-4b53-b648-8ad3d882334c phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1bee828b-9f23-449e-9df0-79abfb98cd60 phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:72b09ddb-8cb9-4b44-96c8-798a6d0c115d phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:74f3e412-51a7-42dd-86c9-0e31dadfa299 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:bf201031-dd2d-4092-bcc5-2ed6e8474eb2 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d7b26477-0a55-4f62-b62c-60a0c5f1f3c5 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:030ae974-cbdd-4606-876b-7d77481a0797 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:214c1e81-c2a3-4a10-919e-52991f6c9550 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:17cdf8e0-4ee7-4b78-991f-8a534e2cd322 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:76b6854c-5642-4097-8c48-1fb88a164761 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f281b0f4-7b03-44db-aaf0-38da8b60d787 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d303cf39-4529-4d08-9555-24e5cd12b913 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:153d7b8c-9466-4ca4-ac83-7ac2964240c4 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a33bae69-da78-425c-9da5-f45484275a66 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7b94e28d-16ff-4ef8-913d-b6dd5f165dd0 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a3112c4-e498-431a-aa4f-1f4dfd00e882 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:28dac897-2e22-4e14-9f3e-3a0a0f82cc74 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9d66e8b1-0220-443c-a24c-39d2a7d20ba5 phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9e09a59d-3780-4840-a258-5cedaec6394d phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:476da46f-8401-4dd7-8c0a-260efb3b8731 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:66473970-edc3-415f-aea3-d09deb31a48f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:27a94b5d-8a9b-4d44-bd56-7b3818aea867 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4bf5e9dc-f998-42f6-b62a-a376e32691de phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e7ee4bc5-3601-4c31-9cf4-00a724261d58 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc7e08b2-c4d8-401e-b1e4-d9fd511dc731 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f9591d41-79cd-41f5-b5b6-250e17ea93ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a78e4eaf-a7c3-407d-a5be-40e0f599d4ba phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4df771a8-1a00-4221-b43e-6e66778f8a18 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69b67c46-b771-4ce9-9479-ef9c11581b67 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:90ff329e-09d2-4bc5-a4f5-a8d107172369 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69d02fd6-70ab-4333-8c91-6f45645a7d1b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d6d1215-451d-4ab7-8151-e6aad02c10f1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa0758c7-3a35-438c-9b15-2d435a224447 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9b3ccb81-59bd-4273-8b90-27d38248d339 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:62859b87-2336-457e-bdc6-c28299b4ec8c phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5d70d24b-76f9-4e23-8352-274c558c38a3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8f5157e9-2573-426d-b4da-e7ca714368fa phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b0353fbe-95bf-44e4-a4b0-bca76848ab9d phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:878890c2-d870-4d76-a072-c0dda6adc92c phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:41911de4-5fb3-4752-932a-a5a417351b26 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a532835d-1843-4636-9cbb-9729f24de8c7 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f14f0b38-4c30-42d0-a77b-2a67b29f43c4 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0d4288b8-d42e-4b6b-85ba-c980261ac605 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:621fb5cc-a357-4048-874e-f83566fd57a2 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7e6e061c-4e41-4ad5-a2c4-f46c3b4665bd phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fa2c03e3-8efe-4859-a4e9-b55082ad8019 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a569fa56-4422-4163-8c4c-d18bba9bf243 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a471ac0-b271-42f6-bff0-7ac70d3fe5ba phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7542f1b3-7c49-4e70-b568-177135ddffa7 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bc676c87-9c4e-4162-8389-1837f6b9e677 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5fb60a6e-d397-45f8-9995-b7955c4cb4f9 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:673d007b-1683-4519-9097-558027aa4d85 phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a2b69298-3efd-44e9-b561-cc0651dd7082 phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d2fe6adf-5877-4a59-b186-3df3b8f99a9b phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ac77f221-f99d-4d17-b27b-be7aca18ce1b phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bd9b6894-300b-4bb1-9275-7a7ffc3bab00 phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7f03187d-7570-4783-bf78-25ba8566224a phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:46ae032f-bbc2-43bc-b503-594b448d376f phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ff0e863-b807-4047-a6bd-eebef0ce9e2f phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f3fbee33-c69b-4cd5-9ed6-aebadf5f02ec phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bc470117-ec9e-4ef9-b5ce-331f91961dfb phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:71b9f217-d365-4082-8454-3f56d0ec038e phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:483ea266-9c43-42b8-8846-2d963e9b639d phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b766ccd0-e36b-44cd-9d75-779c2f30c5fe phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:34feaedc-2a68-43a3-b830-2637a8e42658 phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d62914b-1aa1-4d0c-b173-50078773763c phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9db97ccb-dcdc-4ece-995e-eb0967d4b54f phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bcc8a180-8112-4495-8f26-867f998dbb02 phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f163085c-b103-4cb4-ab17-a3f595b4e1b3 phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:63f65848-1c52-4568-9299-1fb08428b900 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3192cf51-5e8c-4308-b6df-f8c3e858e2cc phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ac535c49-6ddd-49eb-b033-35f961415f1b phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e6ef461c-3e44-41ad-aec2-68f62442e52e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:29e0ba5b-b810-449b-8e99-cd8daaf8e417 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:668705f5-52f9-41bb-9c18-609965d10d79 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:468009e0-f07b-47bb-9f09-d3440fa99a09 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7b2aa951-dea8-4893-a2ff-2fc79e0dab03 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:685eadc9-06c7-4cd8-9574-7565b064e398 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6407c5b2-12a7-4d27-be5f-f6be2d96b133 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:39cda461-79b5-4738-9620-9d96d9b89a08 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:21b241a1-2e97-4654-8ec2-2fdae139e626 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:10d9d1f4-acd3-4556-a5ac-452409edd7e8 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bad40811-34cb-4624-811d-0bee5cd1b607 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:18953a82-c979-4f4b-9287-e3eb64dd88e7 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:836b43ec-b116-477e-a8ef-400944274684 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:449f1aed-29a3-4932-a8c4-ddfdcbf36fb5 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c25dab5b-ea8c-45fc-a8af-49696ec29e61 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:959ef8cc-444a-40a4-a3b7-4263ba7a21ec phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f89a618f-22dd-47d9-b6f6-cca774e52f2b phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:222bbed7-97ac-47f8-aec0-de84291157c4 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:408c5973-65a5-4246-8c25-80fd025c4a3b phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b039c09-5fa8-49a6-8979-546dad913ac3 phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:04298d57-c9b4-42fa-a23a-05b26887a46c phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:55a3d600-a92f-4b6a-93de-d5ed20da1a5e phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ddc2fbee-1f1c-4255-870d-38689cda93e1 phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:29c45d65-3012-453f-b802-d39eab46c89d phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c27581f-dcd2-4493-97d4-e2a4cc4e7e92 phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a5718ebf-77d9-4a55-a772-3485c247465c phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:202eeb9f-e160-4717-b5a1-0f1e2d489bab phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d70a3399-cd8f-490d-9b85-51ced32b1d61 phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9fd4c994-0608-46f5-9995-e22ec154408e phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1a74ca36-8971-44a2-afeb-54b53df87872 phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:892586ff-b496-45d9-8780-b463c056b18d phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d65fed1c-d419-4b9d-90ab-26935abe2d06 phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35c9a1b1-4ee0-4cb3-a755-2faa23800ef3 phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:553fd0f5-c13e-4f15-9427-dc76bc8ab53d phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2a66742d-d189-4593-b67f-b9a8f6a4be78 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:d69990ce-4ee2-4313-931c-1f124e0c7811 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:30ec552b-1762-4296-8776-1349b879a763 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5eb702dc-3f92-49ee-865a-4a79e031543d phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9eaf742c-7dc7-4683-bbcf-d173488a4ae0 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b46856b8-abf3-4675-a84a-78a51ed3c4b2 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:75fc2119-76d6-4bb5-98d3-1dab58b9300f phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:dc6d1e44-54ed-4930-8cb7-c6585b3b2d86 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2a02ce02-c385-4199-9b3e-26973ec5a8c6 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:de3240b0-667e-4b34-884d-f278349f7be7 phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:2778a50f-fb7d-4620-a9ff-364497b709ad phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8b01d5d7-e87e-4500-aafe-4692621e009f phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:72d785c6-9eb2-421e-8626-d6daf152bfe8 phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:b426f565-e1a6-4a12-a7af-3001be0ebdc1 phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:5ad905d6-7ab8-4128-b16a-84b4cee4616c phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:e5cacae4-aa45-427d-ba9a-cfaf7e462b5d phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6f74c830-060a-4eb2-a5ca-ca8f11cbcca4 phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9522a72c-3b43-4249-a06a-eecab24915ce phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:50cbbb46-0de3-4abb-a9de-4073f151d751 phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e5446b55-1817-4ce1-8277-5535bade07ca phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0afd1d11-cdf2-40ca-baf9-e50c42f98529 phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f80323ff-9330-4a45-ab16-27f6374134ae phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7a30bbe7-7482-45d8-b144-bf81f60f2b79 phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bdc73cdd-9cc1-45f9-a1be-15e18ce67e41 phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:91418205-9f04-4e50-af1b-e77a9490da3a phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5d7dba9d-97bd-4d40-b06d-3532ee69372f phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:155543a0-9946-437e-a25e-1dee0df81328 phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:eeb1763a-610a-4567-b8e9-390459f6af2f phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:df7cb818-292e-402f-8de7-723bf56ad02b phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e310e98d-daf9-4701-b2b6-e74b4cacddce phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e672069-4263-4db7-abbc-76025f2e3394 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f2de616-0b32-4be1-8f2e-e2b93343f77d phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a5df0a1d-986f-49ce-bb2d-1553011cf6e0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:33e2e341-5b57-4130-a15a-ea079ff5541c phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c62390dc-0872-43da-8bbf-8f11c5c33512 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a415c09-1aac-4360-abdd-d1315c437ba8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1924007f-8314-4e82-a165-606e3f80cb19 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2c42a25-7768-456b-8f34-0027dde82be2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cda30a86-8cfd-499d-a6ea-03aab338f3f5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0ec3f1e3-6dc7-4749-a9f4-9322fe40dd37 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd499855-24a8-408d-855c-1e45fb1fb186 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:39d3811d-6414-451a-8407-7c7dadac99f8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e863dbc2-350a-44f0-8528-2527c5e10565 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cbaa8e24-a8bf-44c4-9b0a-94790e58d2f7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:987fceef-fc62-4b15-8586-af679fec8dd8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e88f63d2-8ec7-4315-b4b0-dbb75b4bc29d phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8123bf79-c003-4800-a578-4c072772eed8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fb7c80c-4e1d-4720-a5d5-405c2a28a5e7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d91ba3c3-ee7b-4784-9ba7-258be7e65718 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2366b060-b1e8-4afc-a50d-eaa3dbf2c3f8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4b23fe9-eb87-4d61-85ed-7d9aa4e3a5c9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:57ee4805-dc88-4d0c-833f-4ced24e947a9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:27787b5d-dd54-4d54-ac10-634f891820cf phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:ababbdfd-242e-449d-903c-ec6127418bca phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:75ce3211-aa26-46ef-b0e1-e59171138067 phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ac041ef5-40c7-498c-9731-f4dfa0f5dc3d phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:fc813d1b-cc9a-47f6-9522-75e254b07cbf phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:82a4272d-9b11-4754-b249-7bb9cf357180 phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d4b6e21e-6705-4b7c-a80b-7cd3c56550e1 phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2c878f15-ebaa-4253-9309-399fc076b376 phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5f7c3295-62e2-4bb6-8fda-11bbe8162b7f phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:fdf55000-4545-4801-8cac-9bac5092e03b phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:29f7e0a4-09ef-4794-8dac-edd118193c29 phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:47054c0a-5f0f-4392-b15a-2ddd62125ecc phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7d7dfe8f-32b6-44ca-a6b7-49afc21175c1 phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:75babd19-3432-4579-b3f7-21ff51a90c8d phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:cd6e771b-bdef-4876-8cfb-116bb9dc1840 phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b5dd1337-9440-4ab0-99e3-dd163e9ab0ed phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6742b70f-31e2-498f-96fc-1dad319b0897 phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8e8b1437-bd38-442d-a668-a32065f1e778 phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4fe88a15-264e-4f8e-9c7d-4de4d6c696dd phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:a5c30a84-57cb-42aa-86d5-1bd1c58c46e1 phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:9ea644f7-9ae2-4e20-b688-adca1f4681d6 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ebbc57b4-e136-49a7-95f2-fe5c50d7e9c1 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7cb21ca0-25ed-416f-90e9-989e4c5ecad6 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a869872-69ca-4285-b63f-99caff7bd4fc phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:454862c2-242f-45cc-b1f8-94f3b1e32024 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:994d631c-823a-4ee7-af35-7f4924da2449 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55e10408-54ea-4e59-8c87-253c29aaad0a phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cb703a4-27b6-4092-a7a5-4ba792925b48 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b933ce25-bddf-4af1-a945-2ff37e831d0f phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2a3fce71-a886-4bc8-a84c-8688075e98f0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35cd1b11-4d8d-4425-af92-4117a44cb04e phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:026d4a3b-cdb4-4639-8fbe-2ee8da2cb70b phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4b25bd5-bcb8-4c01-ab7f-c43dcc2b8719 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9b8017c1-f537-40bb-8a0d-e780e025d1c0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dc431d06-f966-4dde-9647-0fdc6a55e57d phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d97a7f02-ab26-46fd-ba80-c4af1e130850 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c38ec50-d96c-420d-9385-257b6758b5d9 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:311cd398-36b2-42a5-b11b-802a1142a996 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bd257a56-bb66-47db-ae60-554b84efd332 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1ba405dd-e6b7-4cef-ad08-a4bc08136b60 phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:13de51e9-ad9d-4159-8b65-efe079be0c17 phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:97e3e34c-64f5-4b9d-9857-330f97f0e064 phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:df69c8e5-4606-4073-8194-efde132cb51c phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2339e402-4b89-465b-8d6b-0f07b519cfca phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6e57c88d-1a59-4bb0-9ca6-2a6e8991a4c8 phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:be32e654-bb5b-47a1-bb56-1f07e8f8b47c phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:00eb7eca-6cf4-40fc-9a57-c651f1a14a20 phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8368e839-8b10-4b27-a427-a9eb734004de phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:b0ce261e-117c-41b0-a616-95d96c48cd28 phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:da48cd30-f160-4799-b457-fdb27685383d phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:fdf5d0c8-6a59-425d-85e2-34853ef431eb phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:4a496a9b-02d8-4c5b-8925-d582fc68d3b9 phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:96c27364-6230-4512-b044-4d08f40513ba phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d308ecb9-6e12-4660-86e5-cdb049907a1c phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:897e5818-6743-4b6b-be68-396eb750a578 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:ea8304a6-efcc-4116-9003-7937ab8c19a4 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:75b80881-62c2-4242-8d38-e0c1e1a4b621 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:367e6e3a-2c0c-4114-89fe-5f6108022160 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:517b475e-b4d8-46b4-abf1-af0e9001d238 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:73b5822c-a007-4332-9e65-fbb673ae4330 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e927271c-cb47-4ee9-8dab-beaffcff82fe phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:118a67ff-1b32-4538-97e5-733d25416011 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8030f27f-a6fa-49a5-9871-c76c134dc8ab phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:102b309d-7d3a-4b4f-91c8-280392371602 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e48de9ef-92df-4a9a-8f8f-c1ad31931059 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8fb646d5-ab0a-4ac4-836a-d84f32c1417d phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a56d8b8d-4920-4f31-af24-7655ca035b6b phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8abbf8d5-751e-4f85-a4bf-980ce1d118f2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2613c8e6-9c56-4f3d-8172-1426313ae2e3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:10cfd5a3-d354-4747-b4f2-b7672096563a phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ef8dc0a9-f67a-443f-9550-055d174cf13c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7c2da6d8-c510-4ad2-94df-11ab9d35884c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc160455-3f54-4cf1-93d7-66602b46bd23 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4e73ce8-5179-4c4f-a9ac-388b6fd51f0e phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70d9916b-031b-4032-8d92-a7b90697cba5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4828780a-8106-466e-beee-05fc182d8f79 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b671a929-6588-4749-a175-20ac0365055c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:776e0660-a177-44a4-a8a2-a8b1702a4800 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b7dfea00-7c6b-45e3-960e-576ad61ac4dd phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:019620bb-6435-4ccd-845e-dd591cb78be3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70804af9-f684-460b-8b8d-cd7a419bb88d phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5cd23cff-5fc9-4c22-9291-042cdf933166 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e845fc3-ba20-4b4c-9dc8-c49d23938a4e phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b289b479-d42c-4068-a09f-f02fa676008b phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d8b3be1d-c2ee-4964-bba4-05081abc6640 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6ac85c1a-3c10-4b4a-950c-6fd3b918ff4f phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3c52c189-c04f-4f93-9c19-1effe68f6c71 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e89757cd-a823-48b1-a804-e8b12f282e94 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bf22ed48-7945-446e-835e-cb2216c8d90b phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1722072c-173d-4f34-882f-d44f6d948e67 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:064d77a4-c8a1-4fd9-8aa6-d0c9e46a39db phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:af6ec637-ca12-458d-b458-ecc4f8ede752 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2afc2d55-3aef-4a42-b427-656d2383750d phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70d2e572-5745-4019-8288-be756346ce5c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b934f0a-9454-4909-915e-7cc35bbe303c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55b54936-5bab-4bb6-aef8-a1e0cc72a2ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2c20bb9d-ba4d-49ee-b9b2-f9b8b2b28dc3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4efcb0d9-51b5-4d3c-af55-3263997bcdde phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5b4d05d3-d175-4311-90f0-36286f9e6e38 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:409d94a2-a18c-49bb-b72a-acaf03250596 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b512d3a1-a4ee-4c00-9d3a-97c146dec774 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2a3e080c-3075-4cae-8ada-def4451f7feb phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eacb8088-455a-476d-9ad4-35058db78b1c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:229e1f2f-0651-4819-b052-26688127d047 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ad4f411d-97d7-450e-8e58-098f9b59f0c2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:80cd9b77-59a8-43de-b5b8-aa60e51cf4bf phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7acb5e52-049b-452f-9f6b-a45927d4e8b8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37882587-88d6-4d8e-ab05-91f726fc6dc2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f6b203a1-efb4-4492-b069-61c991ac4673 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:27bc59d6-b5c0-4086-8453-1cbb3dc33757 phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:112f7432-ee6d-403a-b4c9-6d090cf0ebb0 phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:fc52c41d-5999-4047-81f4-b1e8a5786f6c phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c9a17980-2be8-4dfb-bee2-a09e063de276 phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:acab91f1-8eb0-4e98-b100-a2d7081bff73 phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:0e4ff243-00a5-4f8d-9443-5be8bab76790 phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:f6207d00-f24b-428f-ba2f-c12af084f2d1 phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:959eca6a-4261-47ca-a310-2a93ef6be908 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4509a3ca-4dc6-44e3-8c60-90c76a48a0b5 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:100af9cf-95f1-4224-b949-23ceb04499df phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1c164c61-3860-45ca-8ee5-b798549d56f6 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a93572e9-c6bd-4211-a8d5-aae5188a6fb9 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9b7a5634-5842-42f8-a7a9-682b6e870899 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:858a235d-e0e2-4ee4-91ed-5db05d2e2510 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:32405db4-d8ef-49cd-a552-d6c7b6c65fcb phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b35213ab-341a-4d72-9f1e-14f9eabf3273 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:18e556e3-65e6-41c6-b914-3ae05f8e0433 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3da3666f-b314-47f8-a644-54961864c080 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a22fb13c-025f-435c-9580-1e1b4b03e9cc phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:529b34e1-898c-4fd7-91a7-003d56f5ab64 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:91f2d714-32ea-40bf-bda1-d219e3e4c64c phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:256ca98a-bf86-4f6e-9c59-07a37015bda0 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ec6184e7-00cf-49e0-8d60-3a287934871a phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b5acd860-5093-4632-b411-ec06bdf27d9b phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:13d04a6d-b083-4b19-88a8-7c041d985ebb phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:85abd415-84c0-47a8-a8b4-1200d2abb8a9 phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:6ee68277-5507-4141-99c2-bbf72ae7b2ee phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:1a869bc9-cffc-464e-ac32-1cfa8a732a52 phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:a572dfca-6b24-4303-877d-c4ee39f62398 phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:0ed6fad1-ad6e-46d4-913a-9b59da76bc12 phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e092e81e-e1f8-4c06-b719-b92fdee4eafe phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:f4ab9b19-867c-465d-b48d-445d5a716208 phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ddfcbaea-bd63-42a5-87a3-db846a4fbb18 phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:9fb57539-2612-4a7e-b7a3-e604584c93b9 phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:5d4b8140-0168-4c33-97df-23fdc0f14b0d phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:573ca506-1810-4e1f-a1ba-ca134513b0ff phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:025fbd98-5c6d-42db-8193-342fe5c69c99 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e27a6c8b-a8d3-41a6-9ebf-94c7f04ee307 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9400e9f9-b857-4d8a-91c2-f9f7a4433914 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c2519d5-a80b-4162-9083-43570f733043 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e275c338-b26a-4e50-8f51-5cf65e9a7646 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:26ec4eb5-ece7-4c62-a68d-191f971474c8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b07b620e-e5f5-4231-b4ff-102d2f5fbc71 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f8f689e5-1411-4c7d-8a79-f8b25f6c2693 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4b104b1b-1481-485f-9550-5bf57560453e phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a1d6336-6dfe-448b-a79b-903c3aeb4409 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bb344c11-80ae-422a-9822-88c7fb6071ab phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70d502a2-bf68-494e-98a4-90c0686b01d4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:40b4d0b4-e50a-465d-b2c9-3401dc3607f1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:07dd302a-1e8b-4628-a56a-6416eef115c2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cf4f8d48-e98d-4b13-9be5-6e2273d45ba9 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:acee6e4a-c584-402d-9766-05565be7e881 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:be941f62-f3bc-4825-a6bb-a0364fd2b7a9 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:87409315-7e4d-4b0b-a4cf-71cbe04da0f0 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b90d415b-23b9-4916-8a15-afb8c499fe45 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:def81a0e-6640-4617-8842-17f723d57975 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8a74d479-d6e5-4829-ae3b-b128e3946a94 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7650c44d-2672-438e-aa7e-45608392a4e2 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:87b038dc-4813-414b-9ae4-052af3c20239 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e94c4af9-2249-442a-8003-be4f8fe80d8a phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d636f484-fc68-4f0d-81de-ae3d3b8ad0c8 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:2cbcee73-d981-45b1-9235-128583f20608 phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:86e25b79-f5a2-4d2e-a48a-84b16cda5887 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:dd8068c3-d398-423c-a19b-bd230019a4e6 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:6cad67ca-40fc-44c8-ba21-b3745b27c284 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:6378bc0a-c990-46f6-9b0e-ac21b5ae6d91 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:2a3db94b-3f43-4e95-af80-c8a38ff685a0 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:21259c7c-a7b8-4fdf-b6e4-7b5ce6e78343 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a0503cfe-9636-4a66-9ed4-ad4f40a1811d phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:407a5b48-b316-4406-a212-3d0e75526dd0 phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:bbf2cae7-5f33-4329-aad1-4ee07e8d0c3b phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:b9da8154-9ec1-44f4-b99f-6f62190d7b70 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4a31101e-8cad-4791-9750-f5f307f96b85 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:77702614-5536-4230-b620-653a26d0f63e phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:44f81142-c57f-4aa2-8ecc-9c01862d50a6 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5e4581dd-d039-4a2a-95ce-e9de025c423b phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9febb049-3457-4673-9eb5-d5f9c3bb6f94 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6f7ebc8-ea0e-4f5c-b1a4-e23f899fcd61 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:778788e9-c8db-476b-a11e-53f764165d19 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8725eeed-17e1-40e6-95ec-e790bbf55056 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f5d2f26-8acc-48fc-93b3-ef9fb20a38f3 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:beb98899-dbcc-412b-9859-ce7629408980 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee69297b-c3c5-4f28-863a-a57420d6fcbf phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12c1507b-741c-4231-8669-61c84f819719 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:00942483-760b-435d-b80b-337cd81689d9 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5aa88829-7811-423b-99a2-263aa4eb4df0 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:929ee7b8-6096-4435-abb1-a62c30f8b57e phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e204dbd6-6c4c-4dbc-9caf-68a4b7125707 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5f3ff19c-5089-4251-80fe-4a7ce60bf8ad phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:879f77c1-444a-4cd0-9271-885b4824883f phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f29c0c24-9285-456d-be7d-c882d2f403c5 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a5ec5e64-1501-4047-b6c4-4feda9ab0e47 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e854700d-449d-4dd9-9dc8-3d49ddd57977 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6d92be96-9574-4864-b6ec-eacbe118f4bf phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:9163cb0d-4098-40ea-9418-7dcbf368be17 phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:99f22e04-8294-4cb6-9ad1-42d1d383a561 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:150f8788-73be-4368-a37f-053e94a2c493 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9c186054-4b74-4abc-b24e-ff8ec6f6aba2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94814e31-917b-456f-82c8-3ed84a746751 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:43319a3f-04d1-4514-bbda-f53727b19253 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0efaafdb-5ea6-4f72-8fca-8d6e1608a9e2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3e1ccc2a-d0a8-46ed-911c-2d1e33f94101 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:014dc313-a483-4062-bf24-3a5a38931ea2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9234f276-932d-4961-bbff-8f49102d29d2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:744f5122-1c0a-4940-9504-9cc2b85ac1a5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a4090e7-83d7-41e4-8ca9-8258255f8f8c phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:21a42432-727e-4178-995a-09fc3b15a48f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ebf2cefb-6508-4a64-8316-9f3bf17bc9ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:06cc5e11-16dc-4748-9eb4-9306ab9934a4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0048cb62-d851-42a1-803d-019c512222a1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea0f1da0-044c-4773-9391-b6cada294a89 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7a6a8d4-2807-4bfa-8306-b08884e689d1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b8d398f-1163-40a7-af64-daf31bf8ad7f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7726273d-5f21-4d4e-a130-b1211e9130eb phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b47d4b7b-605f-4634-bb0a-9fb754ac74e0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68a85003-ace1-4bf4-9394-6bd1eb107038 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fdd547e-4684-4ef1-ada7-c8823877a1c3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70d77f07-af7e-429a-90b0-e79b708a88b4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2145e002-b6ad-42b5-93d2-fc871919c408 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b3d69f67-5b13-4ca7-8ac7-713db4dc5a79 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bd1fe649-587c-4e15-919c-469a00fbe291 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cc06ee91-ee07-4c8d-ab8b-1a1aab8d671c phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7cab3f31-92c0-4b65-a398-7dbae562fc35 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a3818722-d526-43f5-a8f7-2af7f64bbac8 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:198d8830-e349-4c91-9051-f6514d4de02a phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8b799596-1888-408e-a159-34b32ec8bb08 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fd129cfa-2c75-4345-aa9a-58d303a3c9a6 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:60975d46-d0bd-4762-9345-4702fb65c1f8 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7483656f-6489-428b-a396-c54567043553 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7ff15a2f-fdde-4338-a4fe-4139b6be1b46 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b4d7e5c5-6929-4956-b233-e82bbec1fc43 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:71556fb8-47d0-4a97-abb3-9f3960d4bf51 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9f483c6e-f9e2-44f6-a9be-6eba23c19529 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8e42b128-eff0-4cd7-9f7f-ecc5a9856939 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2387c52d-39f2-41b5-bbab-a81c8aafbe8d phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3cc9bbed-190c-4024-965e-d983d49fbdf4 phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3ea914fc-672f-495e-a7c2-3c0ceb06adb9 phenopacket.store:NF1.PMID_20513137_individual_HUM_GSM_GSM492743 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:eafe5224-632c-4f00-b4e1-ef954db14d42 phenopacket.store:NF1.PMID_20513137_individual_HUM_GSM_GSM492743 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:bb9f8a36-dbaf-46bd-9ad7-6d8944fc8f17 phenopacket.store:NF1.PMID_20513137_individual_HUM_GSM_GSM492743 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8005b568-adcd-45eb-b3f1-bc9dd0455691 phenopacket.store:NF1.PMID_20513137_individual_HUM_GSM_GSM492743 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:bea02799-5065-4f8a-a34c-ce803dc86732 phenopacket.store:NF1.PMID_20513137_individual_HUM_GSM_GSM492743 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9d3fd869-23ba-4afd-9090-f13c2aea4e06 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5e679fce-b028-442b-90a2-a304199a1d03 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b2acf794-a9f8-4cbd-9859-75eb9486a27d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:41da6821-6858-4cd2-8bcc-ebc1a8afb4d7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1cd89102-9e0e-4340-bddc-08969525ff60 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ba7d5f81-a71d-46ea-9fba-aa732885a3ca phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:698ab1f0-633e-48cc-aa64-67d2a10c83aa phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:48f5d066-3565-44fb-8520-95ad3ab4691b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e7bb327-1700-492d-b61d-98db33746efa phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9b51e054-0a31-424c-bb95-5fb3c3928f38 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ffdfff56-9d39-4ebc-a7f7-447eabcc654b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e3bad401-ad58-49f8-b460-9e6ed435064c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:be5959aa-a225-46b5-97d9-f6b82743977f phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2516f065-2257-4fef-8d1d-2cecad8ccab9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:560b33a8-85a6-467a-8c66-f2cf0de33f9c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e99e601e-b640-4754-ab81-ab4f4c258f59 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b6425a9-2d67-41db-91d5-25438685b43a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:87d7c843-c914-4633-b125-375dd13437d2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ede96641-f805-4ba6-b923-a50a26e80cde phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:16fee79d-44e7-4963-923e-609a2f7aacce phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:131ef3ef-caaf-49fe-badb-9071edcfc8e0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:27b1388b-728c-4cc9-860c-2890a5dc2902 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fcb68ff7-6191-4104-95e7-9c0b5e8bfdad phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:41647cca-a5c5-4952-8084-afc3a2e3d5d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fd44cc2-bc74-4aa0-88dd-f8794ccbc52d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2a3ee95b-1ce5-4e97-8f88-cc200902e0b2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ea47d8b5-7fe9-4219-8f9b-e3c4a753c538 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5d098419-1a70-4896-8304-6f2229aebb53 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:d9880ba3-94c8-4e40-bbf5-dba81c57e642 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2665e612-fa31-4076-bc17-c0e299437d0b phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:88cfb07a-73fb-4d9f-ac06-b4ee8bdfb283 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5e1b97b2-3282-4d28-8c47-d54d077b3706 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d6f2db40-1e48-421f-90f4-7445cd650c96 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:dc21d606-cd43-4bdb-990e-d2f630e06258 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d680fc7e-f7d8-40bb-b495-569306aaba9c phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0048d3da-9646-48b8-97d5-9b31ea385a26 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:9fd183f0-ea6f-4a27-b4aa-c5ebda235a99 phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:56554f23-1407-4524-866d-6a24a53fe78b phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:979dba95-3927-4da5-a2a0-7f857b5a7799 phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e561cba8-1a81-42cd-8043-111f408ed025 phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b0570aee-cc37-48f5-8804-b10ce5be245d phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c4cdf906-34c5-4d7d-8e54-42e010d7aaea phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ce8eb39a-d6cb-45dc-9cf0-80b3e0835610 phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8a4c4f4e-daf3-4194-a4ff-9853a8e680ee phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:96b7d2b3-ff2d-421b-9739-9bb60cb2fd12 phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d1f5c9d1-561f-4ff7-a13c-a1293bbf149d phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:730fcc56-4ae6-43b5-a4b9-6ba4dfda923a phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:00f769ba-e5ec-483b-b9ff-987e401620f6 phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:db2a0573-cbb7-4f25-986b-00b87a152eea phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:267cad42-81f0-4289-a65d-4d8a6ac9042e phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:c7335629-55b7-4958-ae35-4b2dd07df6a0 phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:da78baca-9a89-460c-a53e-37687ba80b37 phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:219148e5-4f0d-434b-9e32-116db9d55bc9 phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:24185f4f-aa15-4ae8-a6c0-d17c2032a475 phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d1b15d2e-b735-42c6-afdf-6dac629b3d94 phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d77b67f5-0e65-4ccb-bfbb-db1da9d6381e phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:48d12837-cae5-42c5-94a0-7594746984f9 phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b864112b-cfd9-4636-8338-d17883c0ab6d phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:cde2b2b6-1cae-4ed5-a25e-29c5d5832feb phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5ee9150d-bdae-4ddc-a838-9b3869118ece phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:dc60aff9-0151-4168-9bab-cf39633a0299 phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:eaf085cb-9809-4219-8b74-779fa956fde0 phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:69f62c59-9442-459c-90a7-0cabb8dc89bf phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a5852d6c-9670-48bc-a1ea-99638aab5b4f phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:6ad55340-33da-40aa-8da7-0eed476d0c98 phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:33ed66c8-a7ff-4315-a7db-cfcdfa4b695e phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6260aafd-60f3-4c8e-ac57-0a6ae3b539f9 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b34d1d2c-b61e-4162-90a7-4558f2d76b34 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e55ed396-42ac-4d23-82be-d931cf3452fb phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:94440724-77c4-49d8-914a-93b7d4281102 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f73b5dbb-4add-448d-b5c7-c6efcbcd8b93 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:641a8823-bcb4-447d-afd9-9d7cf4a14b16 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e7b7c231-15b5-4ca3-a0c6-cd3ec714eab5 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:623a701e-4855-460d-a236-5a242ff5ba71 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d9688343-11b9-4bf3-a2e0-0bbcb9d5dafe phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a8f58900-ad87-4fb9-9eba-07ad75da1496 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:47769f5c-e1ec-4001-9d5c-38bd7b1c8645 phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2dbf2fa2-8b6a-47a6-9641-161b9bbcf14a phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c110301e-a9cb-4ef8-96ac-08e9bab4376d phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4d22229d-ca70-4058-86e7-497fb9db0eae phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:c8c3b3a5-e123-4e0d-bfdd-8194e00b57fa phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:823beef0-1f24-464f-bfe5-1e84579c4b90 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:668ff039-78ce-4681-8df8-04e5aa57655d phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:985c703d-6169-48bc-b37e-444a7a0ab7b2 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:386ecb18-fcc3-4ceb-adcc-11848fc88980 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f50d2438-7343-401d-9bfe-f03fed7bc576 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:574daa6b-1be0-4d86-bb13-d0852f7551be phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8940f87f-1ef4-450f-b649-d67d453c7c70 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5c52ffb1-fa3b-4012-95cd-9eb7e9399b80 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:74fa63fd-5287-4110-99ac-78f1314ba3a4 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:482d92bd-e6f1-492c-ab34-cceb87f181ff phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:98bc2260-34e0-426a-9f51-d0d657eae1d6 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:85aa260e-5f6e-46b0-940f-242dd1a72264 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:72a3e86b-ad74-4008-91fb-bb9e7789bf68 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e652e8a-055b-472a-8d05-84ac0e41cb73 phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:21e65204-a97a-4db5-8d8f-ad93321cbaec phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d26cd933-ec95-4e6b-b2cd-016ce288606e phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:709378bd-6e67-4cdf-be31-92c692989fb3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6619f4b6-8492-4e0d-8995-aa8e935fd22c phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fa51bc6f-f262-4b88-b4ea-bcc468f1850d phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0afa2f71-6672-472b-898a-f72ab2d550f7 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bf56c0fe-3314-42e5-8238-8ab791969b24 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c99df45e-0223-4248-b476-85b7a7cdf3f9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b0c019ce-cef7-4bdf-b9c6-9dd7f088044f phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:697fa884-8d36-4811-a8bb-4e84d6795735 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c42c1e81-2538-4488-833c-900b1f456619 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:adad7c6b-748b-4aed-a667-ccd62efb1029 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:99310ee0-3985-42fa-a0de-e99816f9a299 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6a9e89c7-231a-4ee4-8344-88ba7a1db1c4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:611c34be-6c83-4ad6-98fa-f780e4603ae3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c334d994-5074-4abd-bd8f-9f7ea2a0f7a7 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4689b110-5f9c-4221-b51e-d67299564d43 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bb9d29b3-43bf-492b-8622-1d7c110f096e phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0f2bd5a2-261b-4c27-9906-fcd397159ed6 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:371c4f7e-82af-4d37-be27-eea21c7bd7ce phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e084799b-f6be-494d-8e02-49dd6d8b805b phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:08d9c42d-9978-4083-a88a-1dbc789661e1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:de3f18d9-e64d-47f6-8e1b-9b3d2fe22830 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d7702a0-eb99-4e2c-944d-f8f4f2123afd phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78ab7421-6734-4bd2-970a-63464c5e1b54 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:efccdf40-e961-4a72-9aa1-c7e0b43fdc06 phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:631841f0-9f2d-456d-b745-34fd8f6749de phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:846fc01e-6f8f-4edc-b898-3f80b9687099 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dcbe6eb1-03e8-48f0-ade6-9003840b5b0c phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e534ffcd-668c-47ad-8eff-154668e056db phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9747185b-27a1-4342-b8a8-3a1d0970dddc phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fd8ee704-742a-44eb-b4e6-ecb077546314 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6668bc1b-185c-4194-b9f3-ad82cffb7047 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d1486e3c-00ae-4db4-8629-8c118544118e phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a4c2ed7-734c-46f9-8c3d-34408482f0e1 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:303d1f39-e59d-4986-8922-36b1671203cc phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a4e3291-7d79-420c-8305-60dbffb4d6ee phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6217eba5-cdf9-4b62-a1bc-6aef1d8c781b phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:85e8b774-40d5-45a3-bb61-37c4236cbd1c phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e2fcd6fb-57ac-4deb-9e22-21eab2821ac4 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5035c301-d6e8-4efb-ae71-6bd9cf329fc8 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97ad053e-1273-4a57-a627-60e4ce533671 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b97be688-010a-4a33-833c-64625fcb5769 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cca5e5b9-07c9-403e-8112-7edd8efc8cb0 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:457add95-7287-4ad9-88f6-eaf2f2df0749 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a0f104ae-ea36-479b-b0a8-319ec859a772 phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c50f05c8-8537-4ac1-975e-788f9cfcacac phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:beceb838-c13c-4fce-9197-90badfed461e phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f98f6b55-d819-424b-aabb-10ac1947f46c phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8db5ea57-34f2-47ef-9aa7-49178ccffa1b phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c1e5dda6-2d7e-4704-b596-d99cc9cad5ff phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e32e1390-52ee-440b-9921-29c66cec35b7 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bee8e06b-e2bd-425c-9b90-c16a20c51bff phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7538a7ed-7177-4032-b716-d3d461ba0749 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d6a4017-a1d6-4993-949c-f72272ae5008 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:01d6d6bb-8b00-45dc-954a-397165cae188 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:29756f12-1b16-4ecb-9462-6ca5f3fafa0d phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:444d9c4d-956b-4971-85d2-afabe71afab7 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a85a3d44-94c4-4ac5-bd22-2422e8784052 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:19962e08-3720-4bbb-9ce0-cb9c9716ef2d phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0870e74e-9dbe-465b-b276-00d4fe2183a9 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ee83f104-7e7f-435f-82f8-e2dd6c1fac16 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:770846a3-5908-44c8-851b-b6f7f70f3705 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:78936f9f-5398-4bda-a42d-0efd91573b3f phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:49702bdf-4801-4b38-b200-27e6544797e1 phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:c4848c92-c058-4526-8db8-e3eb4e3e91d5 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c711dffa-7021-4ee7-b31a-93f9daf95af9 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:83e9f4ef-1004-4d8e-88bc-85057fe43e9c phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:56597125-8cb5-4bf8-8445-8f06c70b5564 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e448fa7-a036-4a33-a68d-1f11b71f8eff phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b43f29d6-a68c-4d8f-aa11-688fbdbf6a6c phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:47b9fd4c-9854-4f39-9c2b-4f84017f1436 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:92ecb1de-4d30-43ea-a197-c927757158ae phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:049fa26f-775b-404b-83d3-d7c55aae1d32 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:49caa523-af25-4176-b746-8f338a0a705d phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9275fdaa-7571-4424-8a62-a16cff22ae04 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:06e5a872-2133-4218-9384-18fbdb8d50e9 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:48e377f7-c4bb-4c73-9665-ed6217591b0c phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:12722bba-80b7-4509-8d98-84e521cf7c3c phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e354b06d-625f-42a9-8e17-6464110b1bc4 phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:24e9ec36-da2c-4be3-9480-51c5d1995a80 phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:02a2b30e-e4f6-4d8e-904c-99d118283473 phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:b15acc53-a730-4148-9421-13af12f90c36 phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:0f09d85e-508c-4e9a-b6b1-de4b8f587b1d phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:54a77406-115b-4f54-9c3f-e80ef8d32aa0 phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:497b02fd-bcb1-4c70-9159-4d8fb2048e83 phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6acd60f9-52a4-4508-8447-478c8ae4eef5 phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:843d8b59-ff63-4b87-8a86-369395ca9df8 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:9718f569-da9d-4bbc-a805-e33d51a8495c phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:14049379-fcb4-40b5-950f-ff26ee1d243c phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:a77eb4d7-36d3-4a68-9c11-d9620bc17909 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:c74909c7-70f4-404d-8302-292b48400527 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d348bde5-1bb6-44c6-9fbb-25b66d17060e phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:5f619cb4-cfa0-43b3-8a0f-10cf21385169 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:56283461-ea4f-462f-ad6e-3f551f66d6f4 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:f26a957b-f1f4-4d37-8ac7-3daae80dde05 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:4db3d422-f52a-4ef0-9176-4849894df8c9 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:b8a0ab21-40c4-4f53-8d70-31307f6b498b phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:47f399f5-b5cb-4898-8304-a04e9d3484da phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:33d9002e-a968-4329-93c9-d16153573db6 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:35ef6651-1e4a-42bd-886d-63c99a4c60e1 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:77dedf53-ae0a-4228-9de3-45736867e031 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:02cbf342-747f-4e11-9749-efd9eca9b14c phenopacket.store:NF1.PMID_38596211_individual_12 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:e2eaaf22-e888-463c-99aa-652929c73a9b phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:21d17ac0-6e98-4f8f-901b-124ff0715b15 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e1d7b93f-3452-453f-9ea6-ec73deb2c19a phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:14964f41-04ae-49c0-af2e-e302f9d2e077 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:222982f2-7746-4358-bcef-6ee8439956e6 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:099b02b0-c705-4499-873d-c8f01089a9f3 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ee3b049-c694-42ac-ae0b-b36e3aac3608 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:df5fe267-9868-4cdb-8a25-b6ae40befd49 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:74671736-1c6b-4526-9bd7-c2488cc6629f phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5edb28e0-e7d6-4c00-86cf-0c1f958a02cc phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c2412d48-90e6-4a38-aca6-909385163c6d phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:581a62ab-c617-4e75-afef-f78f8f57b3a1 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d999b6b4-6ecb-4dd3-a1b1-c350565759c8 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3af2647a-1bc6-41d2-8516-d561fbb6b4fc phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3c385052-f337-4318-a797-00d56a3988ee phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a819242-afea-414c-b547-2c3646761c48 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:755bab1d-a700-456d-875d-04dcc89b18e0 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2447eabb-ca9e-4304-8815-ead0c0bad9ec phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fbf6517b-9967-4d27-af5b-e979a85fe403 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7db652e3-9bd0-464a-80db-be59e5167920 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db645b33-9891-429e-a84b-b11be472c391 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a973c6b2-3b62-4d26-aa7b-f19a4bfed38d phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:39d8f6f4-37d0-49fe-bb1c-3409922f3cc8 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e7a4b5fe-f4dc-4665-9109-448a66385408 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2bb73a6d-eae6-410a-bd90-0a8032089b76 phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4a3f803c-8723-40bb-9519-53ed8d4d6dbd phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ad571e5-ef55-4ce8-b0ce-1f417f69ad93 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c3db97a-d2cf-40ce-ab4e-c6f7edff3a57 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cfee2445-6737-40a7-b030-2af6e43d0cf5 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4b070bc0-c3d6-4abc-b748-58a02efb4af7 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:07d05228-ef94-4818-80ce-bc2058a6dad0 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:907b55d6-f887-4d72-aa11-3ce63e19b3c8 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:616bb51a-ccd4-4b4d-b9eb-79e69e7c060c phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4dada9f0-9243-481d-a66f-3a2e2a9a87da phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:27df3a1f-7d4f-4c18-9473-d5c62b04f35a phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:42eb98ee-eed7-414e-9fa0-99e4f9093649 phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:96331459-b63b-4e6a-ad94-42b22a87ad6a phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:5ce9ceac-f160-44f2-b00c-e5488a81d297 phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:66bc193e-1252-4554-a62e-760e45768990 phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:da3a13e3-67da-4cb8-932f-edabd8411278 phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f5259823-b4fc-4a80-aea3-86aba0c75037 phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2aa7e944-da39-48ce-beaa-d3a80fcfd7eb phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:d46bfcf7-e1db-4fd2-8fe5-9ab80c7430b0 phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2a347b7f-616c-4d4f-8cdf-5c9994d1893f phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9ea75f90-4e84-473e-92c0-fa0053f724f2 phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d7b87851-894f-4e76-9c29-62fb478e6fb1 phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:3fa2d3da-4146-4db4-aef5-8d47387a3225 phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:323c6640-da6e-4f67-ac08-e4383e24cba0 phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:4de56c9f-50aa-40bb-899b-abf93fc545f8 phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:1c5e4f93-30ef-443d-b422-aab0fcd5a6ef phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:9a17b06e-411f-41ec-bf79-12e17c9a2617 phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:1105bd17-d437-41e2-8ac7-12388ea425fd phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:ddb208fc-23da-4872-903d-debab174cf54 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:58ed33ef-6e45-46e1-917b-d10c5be1aee3 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:96de778a-123f-4359-8168-4b1919a3d378 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8557f0d5-a31c-48f3-b168-23348f1fffe5 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f824cef3-3d60-4ca8-a0b8-8d247afedf76 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fc8cdf33-6cae-46bc-8d9c-8e8d1986d3bc phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf15bcee-53df-46b7-a4f1-88a4609ff064 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6b74a4a6-50aa-4c73-8045-235f4b391aec phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:79068f9f-baba-4e2b-9718-66d1f0d6e68f phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3e8d0ab8-6cb4-4faf-9cb6-c7a251b60e2b phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:caaa36b7-7ed0-4e56-9d8e-a983922f9da1 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:67e2481e-5347-4190-b5a6-b03fdf8a622d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0fe04711-db92-4e63-af1e-d20cd8c4a891 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:575b66e4-e3a9-4a1c-a5a4-ab0061614054 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:15d3b1ad-cde4-437a-a2fe-1e55e04a305a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ec41648-c969-44f2-9058-48d0ff31ab0e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d72e2205-57df-4e39-8eaf-a4ef3f85cb82 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a16a22e7-260e-4f08-a1cc-dd651535b7a5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7daab29f-16b1-4fc3-979c-23c1046b5d2b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7bcd65bb-ae8a-4deb-b962-57179b4b2033 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:57fa642a-c6bc-4312-a042-5d0d46750cc7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:958635d2-6f57-43be-9fa3-8faa259dbb4f phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6281289-8fa9-4a3c-986e-a6b76b7819f2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d73ac818-7e2d-43e6-9d6d-f074a0eafab2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6f2710d-183c-44fc-b1b8-d3fca0783c2e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1684f27f-b29e-4093-b3c7-a05512b7d5d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6ecfac08-acae-4601-a9ab-42b8703f7814 phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:bc1a6f36-23f3-4d2d-8365-b8be710ba621 phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:45acb817-f91a-40d0-a27c-5271ecef361c phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7d48bea2-45f5-4148-94dc-220a4153e809 phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4d180d93-343a-44bc-89e7-e9080a3afe1e phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2d4781d1-420a-40a0-8c12-5542d0b6bc71 phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6bba00ab-8ebe-458b-b929-6b6595571d3a phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c85f7564-2f50-4cbe-9bf4-ec4e8188dd1f phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:6d8aee81-83da-4f5a-97b6-3211d316ab64 phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:2ae662a2-0df7-427e-9334-f1e5ec917127 phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:cf342436-ee53-48ed-baae-308c80dd6c14 phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:56a17a7c-bc5c-447b-99b5-e94bd55c61ff phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e3d600e6-8eaa-4fd3-bb66-a432844fd924 phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63264e0a-90ca-41df-80d9-f7a937ed663e phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ea7687f9-b120-4db9-a108-3eb00ee082a7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e4ecc465-6442-446c-a2f3-e65e28ffe1b5 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:09154db0-2f43-47be-92a1-26b250985094 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e2e659b9-158f-4ff1-920e-074c00aa7219 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7202f0cc-a853-47e3-af54-8f5134153429 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a385c4cb-7832-4223-ad31-2e77e788fb1a phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8323b0d5-a218-4b08-b37e-db278e4daddc phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:50eddfbb-03b0-4ce2-a60d-b85c0c25e343 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b86a48a2-9492-4ed4-a23e-52ff995c9bd5 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6075619a-703b-44e5-85f0-16d9dd052ae5 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8300d31a-1a2c-436f-bca6-5735705bf73b phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:eb9c65b1-5a29-48ad-836e-4b6bd7da96da phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5227544b-dee2-4928-99d9-5558296d91ec phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c71ba984-a260-4e0e-bd55-36733e37fa08 phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8d5dd5da-aee5-4333-b7ad-a62377dc2dba phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:23465bf7-b837-46e7-ab5e-893d2c39057f phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5e6df21d-2ae6-4b3d-b1f3-87906277c7dd phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:76a681c6-1480-4d6a-adbb-e9a5d44d48f2 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2baf7aef-6f0b-4c68-bb45-2347d8fcab28 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c8666bf4-f0f6-4ef2-b34d-d8cb0f9b45f8 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:32ba6d00-3338-434d-91ae-a5aa896d203f phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6a235572-89bd-492a-ac90-d7f65c058266 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf868afc-2628-4a52-bf7d-87d613cd2366 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:645b4d7a-7fbb-46c5-9e87-b127c5e002a1 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:426bf66e-8c8e-457e-afe6-19356dd7fa05 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:49b383f6-e2b1-40fa-871f-9925ddc85c8e phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:49a44211-e773-46ce-a849-c9c0137d2c96 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3c0bce3b-5aa6-4171-a446-9f8b69207b3a phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b057d9f-948a-4a08-8144-7f047e26bde2 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0fdc0561-f377-453f-9454-8d6b1a6a9753 phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1757ed56-92a7-4749-a903-b4367efe6073 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f3548324-a7bc-4881-8433-be8bb14c63ef phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:23657177-085d-49a5-b986-de7ee672793d phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55187e82-c76d-4a19-b5e1-3d69b5bb9565 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c9e7a8b2-49e2-4296-99d8-786d6f7d4a02 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cbc04ed0-6e3d-453e-92e7-0c15641f2f77 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e3baec9c-2ce8-4e20-b8f8-b30e98a57c44 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6334663f-ec91-4a0e-8026-a1eeac58e556 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49cd9981-353f-4c95-9e04-a48defd00f1f phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:435c0f1e-31d5-469e-8230-e24753e3641f phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fcb42c94-3a7a-42ec-b7d2-19b604bfec0c phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd9dc528-0d67-454e-bd93-091f4866c32e phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2a2eb7b-7b9e-4153-82c5-d148000a5a64 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d3f852bb-a05d-4e3b-a896-883358e081ac phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db55749a-6c2f-48d4-8a6b-f200c15b70de phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:619e52e3-8822-44c3-86cf-441cff7b3764 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77a38cb1-721d-4e31-bae3-c6f6a1b29c87 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e7294e61-a4e8-4037-b539-f37737c56b57 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38a00503-2d0d-4eb8-9b3e-c4cf07ed5e1b phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ea341bd-3d39-4fa4-89dc-3db3dd6bd5bf phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0f37ed83-53a2-441b-9d61-ce420c98cea7 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ca792dcd-619b-42dc-9982-14af857f016a phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ffa9f3c-f949-4065-88ec-ebb8f227c497 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b7d3dea2-0cda-413c-8adc-08f45ff68a34 phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:aacb2cbf-2dc2-4fe6-a09a-6682a73c4741 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:07329674-9a7d-4751-aa18-ba85c390ee78 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6532df04-f703-41d2-b321-005a48876f76 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5ab81d11-957d-4401-80e9-929dd5ad329a phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c27cb4a1-9a2c-4aea-820e-a3884550f811 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e01f7377-1d5e-47d1-a720-e13c7907226a phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3fd603f6-0d3f-4d6b-9e9d-af88ea9a71b4 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:874b2710-2491-4ec4-a0b4-58c8f210eafc phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2dc1f1de-4b6f-4d4f-a9f1-94e948b621f6 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:37cfea42-0efa-4f10-88a1-492fac397706 phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:19e25474-38d2-4647-a1b3-e25ddd807faa phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:89adaa32-c556-4032-af9d-7c85051c696b phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5a5a2a52-14ba-4bad-8c7e-f9e4abfa9606 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4b486019-962b-44aa-825a-96f54066b521 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:eed88b2d-1c14-45ff-ae9e-ba033fba3fee phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e1e8662c-f7e0-4f15-83a9-b5a723977cb1 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6e24ed4f-78aa-4f3b-a0bc-218354359da6 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e26426aa-99a1-4d0d-8762-6bba71b3e3c1 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:53634d17-b516-42da-b0fc-f7b00047df5a phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b039f200-bc68-46cd-88fe-c4d3b249fa8a phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:91da6fd0-58ac-417b-9db6-6b27166e9043 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7695a8e4-000f-45c8-b7a6-ede095018ca0 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8b1b2e0e-29aa-42f2-aeea-7c2f11d672b3 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:44b5961a-fcbc-4e52-94ad-5d223906e8f8 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b490c963-1aa5-4fb8-9363-940fbf3f3247 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c3e7c6e8-9087-4656-a654-a79fb67d0dda phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0737c0c4-70e0-4fc1-b2c4-4a9faa220cb6 phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:65ee5aab-3726-4b58-b46c-c04f74e773cd phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0957eeea-efc9-46ab-8e4a-5d718abe37d8 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ed2c0de8-5a1a-4b13-9b50-36b09a56f6fc phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:777b97aa-a5a4-42fc-9191-c04c93afa196 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:90f8824b-dccf-46a1-9f04-ef5a4f5fb7e4 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8b819f49-5ad9-4fd3-846f-42d879dd9636 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:12b2a4d3-2e76-4f92-a05c-f40fe4ac3fd4 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f3995e2d-9134-437b-9cd3-f5a3c119aa58 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:16813d61-9771-46cc-bcd6-142ca75bc37b phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6969f8e-a011-409e-972f-96c4f9cbd85f phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ec37127d-22b1-4949-b7d7-347ee52cf962 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:72561895-e407-400d-a1b5-b46003261575 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c3fbf17b-52f1-4d36-b2bc-3a1cef653a3f phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:97c40ab3-ab77-428b-bdab-7c19e87549ee phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f4de6ba1-51fd-4427-9ebb-b14df5eb04a6 phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5412caaa-27b2-4017-b057-6fe2423846ca phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b9502cbc-ecdb-4320-9cdb-88481b3502fd phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6eeb3d68-5385-48d1-9741-f53a9d5647b4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:96e25311-3faf-48da-b65f-dd7808f5b3c1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:328a2682-0a2f-4530-9dc6-39648236156f phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:22ad44ef-0bb7-4e18-8413-1550dfa9ac74 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9a40492e-1db0-409c-a4c8-fa3904d8e824 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6d113faf-bb23-40e1-8408-c914ba450598 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5cef1eec-6a01-468d-977c-b4723428acb2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc3587f5-82ee-47f0-964b-517086d06fba phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6ac24ab-e1ea-426e-94c6-0e729fc2fec5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ffc5c8c-3fe4-4c13-a739-601ae687fc12 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d110eda-e5a6-4c34-b8b5-ad9cf1f7f7c8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b3790045-2337-4b7a-adb0-f2bd5b46f20f phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82cf4be2-8838-465a-87f9-9080916b5247 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:96ce8669-2503-4576-b477-1d6b313c120c phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cea7e464-8ba2-4c4e-8588-a80879a0ca1f phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c843c85e-cc21-4958-8da7-3b16bd0baea9 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:33a94768-ad12-4159-9dab-e75621cbb788 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:28559748-525e-432d-b400-075adbb7de63 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a26e6013-4453-48aa-a736-47c0cc78362f phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ddc03fbb-b92a-46b8-a7e6-6a0e245a1351 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6fcca3b7-bde3-43ad-88f2-920d9f118276 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f44ab729-d9e9-4c54-a8f6-9ce5e6571d78 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:687e6f3b-d2df-4aba-87a0-e1bfb5c00d39 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6ec5c5b4-73eb-4548-8634-1036724fbdb2 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bb86d3f0-d234-4a4b-809b-f724ec05a6c2 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:07f6476c-079a-4c77-a7ec-479b9d078932 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0f430d17-6e78-4698-a234-983e46b98f17 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5195f757-c37c-4371-b4b6-607f99a441a6 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:81733d73-1a82-4674-b492-2ca756342bb2 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ee99421e-da0e-42ab-8810-084898529166 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:93c24f8f-98b3-44d6-9020-663bc17f8d91 phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3a17ee9e-1cf0-4773-820b-e9436966b2f0 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:94c30c7c-8dc7-4c21-9f42-0c140bcec12a phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:52a7fff9-4cee-4726-9508-f3f56992d64b phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:598286b3-3691-486b-93bb-bbb737f58b36 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:563d1d73-dea0-4945-9b7a-ab7c057f83e1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ddf1ba14-4251-432c-9c7f-5461b73d407a phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd825f56-d539-4b8d-b461-0598b1e9aab0 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7d97d2c6-8acf-4560-ac36-c87d3daacb58 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4184c616-db58-4f50-ae78-c4a5d302780d phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7d2b7837-9f05-4a87-901e-32484e4d7e0f phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95fa4f84-d256-4d61-94d8-5132885911dc phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4bae291e-c302-4960-84b1-3f8d45ce805c phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d2f75a9-eee5-4c35-b15d-ce50fa8540c2 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a214f474-abf9-447f-a284-680868ce34b6 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:11aeeb4f-0f3c-4acc-8078-8f1686d232e3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4d06000d-141a-4424-b428-681365904fe9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:45121897-2fd5-4cf9-8cd6-0215e69a27d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:66c2a7b3-2a97-49d1-8c91-34ad3ac208d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37c84461-2b4f-44c7-869d-d72577763330 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dde322fc-72f7-415b-8d87-8e19c25b898c phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5d8fc07c-50c8-4bcf-9b94-a6538294a4a7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6d39e91-055f-4896-a248-bbc0b832db1b phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6195a52f-d02d-4b96-9f4a-7d010bfb51a1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8df5bb60-7232-4529-9573-83ec841763c4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c7377ee-8491-4c8b-9d7b-60a4f1aa2b0f phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b4dfa2cf-62c7-4945-ab22-58af74928aee phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ceada1e9-6644-4e0f-bfda-610741f20e92 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9ca7b8ee-e7a9-4c27-beb4-5b7628647e29 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6b71e9ea-89ec-4630-bc2c-1607de530b19 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:fb484935-c68e-4849-9490-b92f0abf8fdc phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:0994ed60-12a2-4fb4-922f-4f14202f7514 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:49cbde48-cd76-44e1-9a76-e263d70f73f3 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f8c24397-f2c8-4975-9566-719476f79b45 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:51c791cd-0ad6-41fb-9d0e-e0794af53a03 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c7e4bae1-12d8-49b1-930a-f1f3d90a3105 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:23752d4e-5af6-4d97-9e1a-82a7d6185678 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:46280c77-cc20-4b3d-afc2-ac3dedb0f96f phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:446f54e5-d71f-4d75-87c4-88a4d69a25c6 phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:2986bf1f-c161-460e-9193-f20e32ba5f78 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ccf3b1ae-6498-4f6f-a5a0-795812f26bc4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:adacc67a-0f79-403b-927b-2e250fe2ef87 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e4952a85-67d8-4c70-99f6-4beccef78dcc phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4eef4873-df87-4e37-90aa-6f0d9f1e20d3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7aee7820-1614-4697-a687-d3da1f7800eb phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:92b84b0b-e9bf-4fbf-a9b4-efcb540f6e2b phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fe41e37-0e6c-4066-bee4-5e60dba33fb7 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa82c776-ffa7-43dc-8e59-a728b8ef4686 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:178aec54-d9f7-47e2-a428-da1f7b0a7ef1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64723ddc-cc9d-4473-a917-d693b0e95f81 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55cc6056-ba91-405d-841e-cb46f668d720 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:92f04da6-52c0-4d4b-b37c-2923c925a11b phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c6a619f-2595-47c0-be74-5465960880a6 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a86799f8-af9c-47f7-beb7-caa91210292d phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e1fc6be7-5144-46b5-ab8e-af6001370dde phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7a131f80-a723-4b31-b0f8-a08fce43dca9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f0da1e91-eb4c-44e8-a2cd-2d4074a97b38 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6bd7be07-26ce-462b-92f9-f8858dc36e0f phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db4e0312-016c-4153-b0e6-51c3bcc8f24c phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:892c2809-50f1-4081-95d7-9efc43c9258c phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0f15ecf9-779c-4cf4-80b2-ed84ba5e4949 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:958582ca-47b6-49e8-9444-1e363e495571 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:be7bedd8-74c2-40be-b427-26ccf51b4cd4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cae20897-6549-47f6-b07d-efebba92b8f4 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:70c37686-ca39-4714-8b26-619d32d994ec phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e002272e-be57-431d-9d7d-732e5bb0de7e phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aaefb676-837e-4787-9840-927ca4d6bda0 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1b744a32-b25a-4421-a0be-3163e992b7b9 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:04b23a25-2f5e-452e-868f-5bb86c03de10 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:49522840-f70f-4ee2-94f9-4c57a52a151d phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bb522346-f38f-4aa9-8598-13c0fb6fc349 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:32a4ddb4-10f0-4f14-8a10-f9c209d1f05d phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:49053587-925d-474e-9c62-18e34ab86262 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6b3dfc4c-fac6-4b9d-bddb-b05b5efd21b3 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b85e9c3a-d938-4332-a189-46201d7ae51e phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4081be97-5012-4836-a36f-1798a1630ce7 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0234e6e4-23bc-46bf-a798-548ffd5489a3 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0b9aef45-2f0d-4766-a624-8061e2130dda phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3a556b76-47ec-4e93-9f30-48ca36fb1243 phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:19d93419-cbca-448e-a4ea-441cbceccb48 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:a6b63f2b-1cf1-4457-9546-23962f2b5eda phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:6e4f29b5-8cea-489c-b47f-694dfdc9430c phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:2f9d4f1c-f17f-4ebd-bacf-b0b23ace34b5 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:79cfe963-73dd-4730-83bb-9764e3720ed3 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:c19bfc02-9a0f-4baf-960f-17c20508f2a0 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:270741a0-0c2d-498f-8b6e-b92c280bec3b phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:f1d48099-53ad-4275-b7a8-d47537f09460 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9be75645-efb8-4ddc-bba4-a698c88e889d phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:07dc4127-d043-4fe4-8eff-0a3e86a0efa0 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:6e52fc21-7b69-4aa2-a691-0d05d42e1527 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:64757ddb-cdfb-426c-bd84-43987ea4467a phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:391ba8fd-6b7a-43c9-913f-f5d3077504f4 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:8ceab31d-fbdb-418d-8b6f-5ed5d3be1d0d phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:7fcfe0d3-e754-4c57-ab4c-79e149e46d96 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:ab84e37f-cc5d-4b3c-8cbb-cfb91f82cc3b phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:c6b40598-f1f2-4aa4-9599-cd82cd78dfb2 phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:da8cb156-d92f-4380-a790-18512dcfc38e phenopacket.store:NF1.PMID_38596211_individual_16 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:6283b1c2-5b8d-4dfe-bfdc-bc1637dda227 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9b272f6b-1231-42c8-9a07-4191318fe734 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:30081c5a-d7d3-4a33-bd0f-f43a4a555a2b phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1618ab0a-0435-40d2-acb6-5b041c78a1b1 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:27134202-a4be-4363-86b3-9d48b4437988 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:74bbd7fb-3cc5-4894-9c32-7367c21d7ea1 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2a6e25ea-6aa6-4f27-8245-d09ebf545654 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e0d4117-54fe-4e71-adfe-7f0f64b4e827 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e0a2baf-b1ed-49f3-bb8a-645dad291158 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d87c389c-9a8b-4fbc-8913-62fad2cacc00 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c6d0471-1c88-49e7-b90e-5de09b94deeb phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8c996f59-d192-4d35-956d-c15f8e6c924a phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0062702a-a186-4c1b-82ad-900c9780aa25 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:59fb87fd-b165-49e3-8f03-0aaa8483528c phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e28fe37-981e-4f68-8375-0569ba4c3574 phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:8e2ead52-d014-413f-bd21-b2478cb8d0bf phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:887d51fb-dbb6-409c-9c14-309d928661fd phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:96ead2f9-cc65-49e8-8600-b585f8fc681d phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0cbbab50-6bc2-4625-8744-8ff03b6f3739 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5ac93f68-05d5-42cb-85f3-a28f2c939822 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf910d86-4f6b-4c32-9116-0f21e8561b44 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb5c1a2c-1fb2-4b66-8b22-e8f585794618 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:24a5ae61-9890-4d15-aa5f-98fa2d55995d phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:43406e2e-54de-4138-9388-d7c1f31bc666 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:949c6ac5-6f25-4a84-aeb3-bd918b858b02 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8581eb1e-da7c-4bdb-a6ee-58f6fa0e11b6 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:98548667-01cb-4d3c-8b48-fdb8cc7ba95d phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7749be50-bab1-4574-bda6-fb76c3cb8436 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4a1b202e-5ba2-415f-8afa-40568113038e phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3f86901c-043f-48e6-b144-3530b357a759 phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4827ede6-bbb2-4ce0-83be-cf96ec499b5c phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5066d7a0-eb7f-41c3-b2ce-a09e411243db phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c8f961ed-89f7-42c6-bd47-ec76800e7c8e phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ff685887-e074-4662-bb37-b22f32e1bc2a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4fceef3c-3998-4fa5-a21c-4e4c7c5fb4e2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:50442d3b-25a9-4e2d-a32d-eb57df0dcf77 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ab6d492f-29ad-473c-b4d2-77bd21568ea7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ac32bc8-e085-405a-a098-5ab5516c125a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e822199-b6b3-4193-bc28-8af215d8f1e7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3094f6a3-59f3-4467-9a34-582ca5b82371 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a861466-a0a4-4f34-af5d-4c4d3d1e55ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3ff41cb-a335-4130-b508-447e3372dfd0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f275db69-49a0-44dc-92a7-612f9f477d4a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:90ca7bcc-48a6-47a1-ad62-ba2cedbc3a0f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2044dd8e-215d-4161-9b26-d96b4b3470a8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c92187e5-6b4b-4d09-9a6e-109cd62bb563 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ba0a40a3-b786-4cf1-9a10-b4a3bc06b5d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dd9a7ce3-a569-4d33-b925-177119fece55 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce0e327f-df2d-43bb-805e-632114691a2f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db243875-8f90-43ff-b6cd-a6a351cd454d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:85d6483c-038a-497b-88c0-d66ad8c0528a phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ac20aa1-0d81-4eda-97bc-46e8962b94ac phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:57f74723-98ef-435d-b330-4608f5ecaf14 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e773e89-4e05-4388-be0a-ea308472d7c4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4225c0da-8ee5-412c-975a-4020ea2fcc0c phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0f6beaec-de74-4033-ba19-384d042239bc phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cb50fe6d-ab36-4527-8837-b72294475ca6 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:7b6a3bd7-cb90-470f-95a7-7590e69c771d phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:ba9c1f5e-b828-4b86-a738-aa4207e8068c phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:88cd5166-baff-42b0-a11a-8537b4e8c44b phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:fd7176ea-25d1-467e-8e5b-4158071cf0eb phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:087c343f-7f9c-45b0-8ccd-4daf3432feea phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0010795 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:623c31d4-3e5c-47fb-9bba-e3a22104d6fd phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e55aa208-5ea8-42e3-b501-8814e49713e5 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:48c1e601-e063-424c-9cff-06b595f95599 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:cd3346f6-55ba-415c-960e-958f4d7c322e phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:57edbbff-032e-465c-a525-64baefaebba5 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:1712f670-ef47-43bb-b397-ee25a5a078df phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:44d5b564-9338-493c-a715-25f9f8b69d60 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:25620f45-912f-4589-b03c-29008d4ad377 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:88c96058-10c4-4a98-a816-2dbf23519ff1 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:3505b226-501d-48d4-8415-bd2321fe1d9d phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9ae1ebf4-60fa-47c7-bcbb-763d5a2377a2 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:f1c3ad02-bc16-4790-9c06-6d9d54068e22 phenopacket.store:NF1.PMID_38596211_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:eda7e84f-a172-4ba8-b130-b5789c81351e phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:00462e35-cab6-45e7-8f34-d5ecdb78a0ec phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:50575ace-1ed6-4f0f-8a39-80973898754c phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:334c8952-43d2-48b4-8873-bdfe154a234d phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d433a4d8-6a79-4dde-adf8-eacac6ca0685 phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7abf6c23-3d45-4d8f-8637-0a8865f644da phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:126bd67c-4352-41ec-b215-e9df89b44827 phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e6aa7507-0013-44af-83a8-a22f9de8376d phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:cd77c861-37cb-4b6e-9622-148514b400c3 phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:1f6239b8-5bd9-429a-b272-8b36043fcd50 phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1bace87f-3c4e-4693-8d46-97306205cdef phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:459d698f-fcba-45b2-afd2-11220830f5bc phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7dad9277-57b4-4055-8b46-7bfeb81dad1e phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:77ae9bc9-6c42-40e3-9264-aebdb013f462 phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:519ac27f-3209-484e-94e7-1f83e0889bf4 phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0dedaf82-1095-438f-b5d0-0b03c27b15e4 phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5bbddd7d-501c-4608-9f3b-a8c892fe3866 phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1fb6a2a1-5f8c-49b6-8512-8f4a5b93779b phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:8f7150f3-0f52-4e7f-aae9-71b98cd61a9c phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:31a5b71e-81d0-4bec-a762-a2b12e47ab48 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:72cdfd98-96fc-4e0b-a539-fbbb60d66577 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a2a15337-d142-4283-8cfd-e1a26d27ed3b phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ad97cb91-9e0c-42b0-9bb4-f63c4c6d3d42 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a17ee767-349b-476a-b052-09f52298d2ed phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:463ff9f2-87fe-40f5-9916-c2b1fa1e0b94 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:49bba1c3-c1b9-497e-8c55-d192751acd97 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c8fe9434-a6b6-4283-b500-44e22ba3ea44 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4fe5ebd7-c0d3-4a12-a30b-c48f1597b013 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:50ed4d40-6448-4dc9-9658-413f4ee7fe48 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2190c382-e614-4dc6-9c0f-5003a0854010 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:08e35dfe-303b-4e38-b8ca-64266d5d8977 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:113e2672-294e-4c9f-9d1d-db8fe9105d8b phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:354f079c-8c2d-4728-8587-c170685eed86 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e90a8c66-84d6-4512-bdf0-be712e5c8be1 phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:760330ee-365c-4bfd-a313-debf981e017f phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a0c9d222-9910-42c3-849a-865c69f79bd6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9d6c6b4b-8601-4f53-9f29-58b5bd98224c phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:32c727ec-8c6c-4550-9b8c-3e4c5263a580 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:80dd0e2e-a23e-4d31-940a-2c7e076cf936 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6c8bb88c-9c76-406d-940c-53fa92954fc0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a647a82e-89dc-424f-bc3b-3002f428767e phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:45b7af59-126e-45bc-93a8-dd4adc0583b0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fa71184-369b-4d0f-baff-a8d2878bc041 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:544cd786-4fb6-47be-bf4d-6a5c1224b106 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a73b4aea-2785-4f07-963b-abd9efe74b84 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:11f29666-ba24-47fd-b448-0b397304c59d phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b9edfbc6-7e8c-40e7-81fa-3a11ba337952 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a477d1d1-40f3-4703-9f5a-cf710cb22662 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a22659a-6319-452f-b284-35c6422daad7 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:51d68777-a1cf-4eea-a22f-b47de75822b6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7096dbe3-f743-4e08-b2c5-374b1433fe73 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a7efa3d1-e5ab-4c29-b94d-b417f87f9438 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bdbe26e9-9923-4211-bede-ec04d0e9201a phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd20a7d9-ef2e-4f57-b458-38952356cebd phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:93b62fec-a5d8-4498-9088-46d5301cf280 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:858821c6-d367-4262-b494-4c459860f82d phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:361e8eae-bcf2-497c-9f98-1657e6a2e373 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:803c1cdd-4cd6-406b-9458-271319df3847 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:16abfa03-0f5d-4867-b366-4279f1035965 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d42959f8-8b38-4ae0-a516-7b6ba7178503 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c679813f-2b0f-41a7-8523-e9fabf725642 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8fbe657a-b1e9-4d12-a287-a3e4d1cfe4ac phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a9e807c1-d82a-4b47-a0ce-1fa327099a1b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c068a4fd-189d-41c8-9bcd-984612a483f8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:97cf6dc7-44a7-4c5e-a9b9-7bcb6c4a3862 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:986b9230-ac55-4f13-a7b4-8b5a645f0fc9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f67d8683-2bff-4f65-a2fe-b3acf65f5c96 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9da83c60-1b63-49c8-b0fa-bb99bfd6ce2a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:beadb54c-b13a-457d-b0ae-ec0e98fc7979 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:537590f1-cfdf-4ddb-96c5-4ecd209a8278 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3624b115-e278-4e09-906e-54210de2ac36 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b5c5b332-4fae-4354-94aa-04eaf92b7c9a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14b3d8d9-5718-422b-8e98-c4b78f548016 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8126f7f7-1d60-4234-8bdb-72e38b6f52bb phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d74f62c1-9e7f-4d6c-8e4c-c63716cb0eab phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66c11871-b41e-44b2-9760-6b4d2b66fc86 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4f18f8e-1b99-4948-8964-6413656b1348 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b2ba98bc-f448-4bad-bcaa-6d4d220ba7d4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db30e1f5-4573-49cf-bb1b-609095ea4d5e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:647f42b5-f4b8-4444-9757-c60389c85cf4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d93f886-adf1-467b-a518-5b7cdfe22972 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c11ff4b8-e34d-43e3-a451-2c8eb702fec6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:166a535a-ad8a-46c5-9ed8-78f6f8df1f51 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea9d17ba-7a27-4a93-84a3-b95f0e1e7288 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c87b5fb9-9ed9-49f0-a9cd-3a259e2fb39c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8cd98193-7416-4f53-912b-7c7708979486 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fbe7f723-fcd7-4848-8c48-91922803608a phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:04b5fb66-5ca8-4ee0-8593-93d78007835c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4d2133a1-a712-4dc2-b355-60d36ab1aabc phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:20bf851c-722a-49da-94bf-d959a7e049c9 phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1c7899ea-0bd8-4002-a48f-13394dad5f56 phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:08bd7b41-cae7-4241-a209-91d0ef025b01 phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:131e48f4-cec4-462b-9ad2-82fc801fc775 phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:48533750-9764-464d-8f30-504c30f40bba phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:7f286387-a4ae-4338-901f-ed8f03a097a7 phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:47e47a16-2d4a-4d0e-a874-f0996fd97d60 phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:df45195c-56b9-45f7-925d-86df0f263746 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b3edec68-6dd4-4111-b87f-32bcd2806226 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a58a533a-4fcf-4492-abd6-fbbd541795ef phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b0cbd242-04a3-4a4d-9c3e-8ae7b7a99190 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8a34c774-b3f4-4c9c-84ba-2d6d2d6e45a2 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:780c130c-615e-410a-8b49-a64aef0abcb9 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b03d5bc-9a15-48a5-a42e-26dc10f6a86c phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:deeb36df-32b4-4a87-ace6-6cc4d7f859e8 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c0c3f9c1-8751-4fe3-90b7-bad5aefc6649 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b368291f-e624-4cf1-87f4-0ca04e5c87f5 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:17f9e556-9326-49b6-a182-8cd75bd66421 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9d368be7-32b0-4415-8ccf-f748367c67a2 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:68ef1a12-d023-4e88-b56a-7544cdcc0c6a phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6274105d-5fd1-4678-b473-7e820a11c325 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:081b6242-e136-4d82-bccd-a9c1872c4f04 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:eb672c5b-12dc-4ab0-b6ee-a9481b8fc087 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2563b363-46c9-46c8-909a-81ffe1f97d92 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:baba7ce2-6c20-4cb0-b38e-8a1c3b91f07d phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ac16e59-9eff-41c0-9eb8-dedb9ee80eea phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d546160-c909-4e10-ba35-071ff365f627 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bca953bd-d7e1-4e7f-a396-7a4506881302 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c42dcfe7-2749-4a09-bccc-7bfb1bdb2572 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6444fa9b-1d31-4805-b023-7e728801fd38 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:98191e4e-a268-425c-94f9-e47acd518c6d phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:754bd842-a07b-4d72-adad-3a2f97b0a605 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:31bd422d-3b03-42f4-b7b5-b7e534334467 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:203b94ec-0bb3-4705-a987-1ed008b34ed2 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7b8e78d-00b0-4ef9-bfe1-27b7f9cac5eb phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:30b9890c-7996-4a0b-a15b-33be87176024 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6e720986-6c03-423b-9902-65a0ed9da000 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7c686e4-a2a5-4204-ab72-26ea9098b84f phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ddb5f78-3022-4032-a33a-5bf1f343c53c phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3878036c-382e-45f1-a169-8778bcdc7009 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64e072dc-a93e-4aa8-9ff4-0550c5717017 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee899203-9ab4-4f73-8d1d-933778acb8bf phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:50759cd7-1058-4dca-ad29-48ea34555d46 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:626c07c0-7104-4f92-8dcb-b71c8fc762d4 phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ea42438d-2e00-4797-8fd9-a79f9ab0533a phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8bacbb8f-8dec-45e1-a368-22e775551067 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:c096daff-75c6-4894-9da3-a6519a19dc38 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:51687ad3-0cfe-432b-8221-910174423a33 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:e9fe7c46-3614-4e71-9fde-1c9f27c6be40 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8110b96f-56f1-4556-beb1-de403baaebd5 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:7190785b-0b39-4404-ba18-8f644bdca7b4 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:67e2fd28-275d-41a4-8cff-6c8dc722eb21 phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:4192e139-1858-46f2-a736-8e2691816223 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:09f6f96c-452f-4e1c-9469-f54870c997f1 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:eb8a6d49-eb85-41a8-a5e1-b1fd726d9ba5 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:934ec229-28e1-4cf2-921d-4f153e89bf54 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:571e0bf9-c2a2-4ed8-8cd7-69c8f4934dd3 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dea13a0e-3c36-4530-99ed-56d320f8bb25 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:789e2317-ca52-4d01-b2d7-45784d5d4058 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cccb71b7-33ce-44fc-8475-8a80d8f4b02b phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9400c9d3-165f-44c2-8b6d-53db33833429 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a6d8a65a-5622-4ca3-a25f-372e36506c65 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:517fa1ef-c27b-4a80-9ef6-cb2f2f173ee2 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2aaf9ab8-b8d7-4d6c-a23a-fbfbf255b6c0 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b62d4240-8fd5-4b0e-938c-bf05c282d293 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:20cada19-e146-4957-b639-daa6d48c12ff phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ca8ca090-da96-4aea-8535-8d1beb08e74a phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:39e58ab4-a8fa-45fd-b50b-4e6077007db5 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c80a7596-e6d8-4e6b-b81d-52e6713ea25f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9fccf45e-07a6-48b0-a280-d948b53fd15a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9f1a0e3a-351e-4e1b-8f69-61e4257b17e6 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0010795 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:24e66b6d-db99-4b99-b18a-641a65c6bb76 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:93583ef7-fa09-4ad4-9b5d-80fe7691fe0e phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f3f4223-b432-4e48-b83a-037f9ae6105f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:90e57776-960f-4c3f-b140-2f853dfcba8a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fdbfd7c-6b3b-476d-836e-4459c09eb96a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1de4799f-46f2-4f3b-bd96-3fe45a56b6ee phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1bbaba98-0564-4f50-ab04-5575bf7738b6 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d82b07e-709c-49ab-a20b-59ad2ce9ff0d phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:34b8a462-1050-4572-9db2-00fe942ee5cd phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a02dd68-eb72-4f08-bb4d-6919728ea6f9 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:56730ac8-fc99-4efc-9ec0-138f077f1b60 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c879db6-4c1d-48b0-aa51-82e626c7fae1 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5f569582-99e3-4d5c-a46e-f7ac8e45f914 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:afa0ae82-e384-41a4-891e-12efc8efc595 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:719f98fe-2a6a-4931-9eea-265c32887f82 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a0ab250a-948d-46cc-b7ea-e2057cfa21ac phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35e6a51c-ef23-4f6f-a9b8-04e535e17f2d phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:473e2ce3-13eb-44ca-b86a-91598dc89f4b phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e1ec2ef3-e6eb-43e5-943e-8072da3ca3c5 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:322cb52c-52f9-40ad-b85e-2e543a58598b phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12a06b94-d4f7-4c5e-ac86-7bd50eac78e1 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3ae7a113-8bde-4ed3-a2ef-45409eabd555 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:64d7a503-69c5-415c-ab5a-0fa6185704b0 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bd678b56-4226-4f6d-bc15-f0210936208e phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e84f5b5c-99ba-48b6-95d9-0c2d51d375ea phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3bb3b727-72f6-4f34-8e24-a349c7f2d9ce phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:688d7fe4-ec0a-4a4d-9974-23b4645647c8 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:77a82927-4d59-41b4-a487-5224f8ce76f8 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0305e980-19ed-4cff-b6f9-491257f44ed4 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4c482378-5f23-4815-b364-887615256e1f phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38e40e32-1c45-435e-aed7-5b4b602dc038 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91bb0aff-1a2f-4b95-b810-c3ef9e2570b7 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d6df80a-5795-481a-b25f-00d3a028bd5c phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:00a55c0e-ce80-4acf-8366-b04a63c752f0 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5d6605d4-d91f-4b73-a4b3-4404e0032962 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:47af719f-8a32-4e0f-9e27-19dbddf75571 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:19bdcfe4-6fda-4377-b1ae-c973e821ce50 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8472a03b-ce37-4545-841f-d68e32d88bf5 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c7c2a783-00bc-4781-b825-c3acecac15fd phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3e66eebe-8c18-471b-b60d-d1d8518da923 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:298413f6-a32c-4659-b939-c1935514741f phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a842ea6a-a34d-4f76-a1d0-7002ea820838 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6bd2145a-3dfd-471b-9990-b176b37167d6 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bfbf51f5-5251-4a2e-b85c-82bccfb161a1 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7b31a159-7b37-447f-9966-d105499126fe phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:176d20ac-6597-462c-99f9-74b0bb532731 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf041d74-0c71-48b3-8d01-50ab762450f0 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cbd90c2d-d4df-45bb-8ebf-da6aaa7ba03e phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0cb4779f-6bbf-4867-9a6e-d31cec0bdd0e phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9ac7e77a-823f-4f50-984f-aeb1d7fd6b83 phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:c1584604-83d2-4053-b321-d64dc6584ff1 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ad191bd9-c9ea-4a9b-9b71-46d6c07e8269 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6bc3296b-067a-4d56-a207-9e6be3c5aefb phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02f062c3-d164-4250-b7aa-1cbfda09ff9e phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3bf6b861-bd07-4893-b2c2-f3c267b368ba phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:56114d9a-63ef-435f-8f10-f214d9fb8d35 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:183fbd09-3029-4b5e-bead-1be9953461a8 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:83cff4b6-b95c-4aa1-a488-3f8ab2153888 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63d6c841-0e4c-4625-8fed-bf0bbb725495 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:62e4edcb-bfbb-4099-9194-45fa9b85e0da phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b1f509d9-1208-43e2-bdc1-f455c2bb23c6 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:719d72f2-9c93-4c8e-9969-4c687a85a8f8 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1a7a39f0-bd52-4abf-a084-b9aa68f5c424 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:970e241a-ac86-4aa1-a2a0-be437dd8561a phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:180435ef-a500-4561-935e-7eb9543503c8 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77dfad06-157b-4975-a3d0-36476014743d phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d650101f-5e58-4966-9ef4-55aebd60dbee phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4c1e7034-3d3c-439f-803a-7311e961dc6d phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:22eccc17-622a-4ed0-a265-e54fb4936fba phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6a784e3-5c2f-4d7f-9218-27423a2eeb7c phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6d04be1e-d4d3-4f0f-8fa7-fdc2f4e44482 phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c2c49461-bf72-4d46-abc7-fdeebf2dc56f phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d1f64bc4-b3c4-4e06-af82-8ca29569e2d7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8b0e6c1f-32dc-40fd-b4a8-2cb6059c8714 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89192f43-121f-4f6f-8d25-a3afa30a1734 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1a225ba-cc62-470c-8b22-643c47433c4e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e94ac04d-7a08-48df-b9bf-fe453c05681e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:014d5c91-7e06-47ce-b8c1-cf7a2d88bf30 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b4588034-7aa3-4506-a007-65964ad6e1c0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e19bb2fd-4142-4fab-a1f2-07601f1ae78b phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ff008f4d-3e20-40e3-bd2d-d164beef7590 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91a60907-3b5d-4a9e-936b-46a3f6deef3f phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5adcdbf2-0507-4c8b-bcd6-a2b75bd18edb phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dd823c76-f350-4340-b4f0-508905042746 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7f6875bb-78aa-4214-a7d6-45e8f2023021 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2356f4d9-8215-48ec-82e3-ba0ae4d461d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:be482585-3623-4aeb-85ce-3295ddd6d45a phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dd278039-381f-478f-adc2-7bc3fbf48fd0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f22e8b0e-c818-447d-908c-30f013a35d66 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:635cce01-3325-4f8d-a325-0abb90108bf6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8dbed29d-b851-448a-86b9-9dd80fdbc2cf phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64b504e4-a774-4e3c-9bd2-1dba7a28dc9e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4de1c00e-f8b3-4947-aa5f-d6c6a80a0f9e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fb29d96e-c708-4dfd-96c2-dcc9a15c62db phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce9d5f89-2afb-4d3f-bfe2-94349db8980f phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d52803e5-c246-4834-a885-d493b076e0ed phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a253812d-69ab-44fe-bf09-1677c2263059 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:c9128397-7242-4ce9-b15f-cf792e0199bf phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:e91c1c60-7e6e-4b64-9dfb-173cc36a407f phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:ffa8d2cb-3c84-4755-b9f9-16e28c95c49f phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:d4424daf-de0c-4927-9cd3-2526edd29860 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:0e80b85b-6827-49ab-9e7c-af5cfb3f9680 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:0e30f5a9-8662-4876-aa8f-ae4fb6c010a5 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:19dee7f8-6422-4fe9-b6bc-a7ecb097ac34 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:7f389a51-9f67-48c9-82fe-4fad869983e2 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e8d3f2ae-41da-4464-85a3-d1446fdc14d3 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:31a58335-1d8d-4582-9d49-8a1b24fc370a phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:56bfc722-ae32-4828-87b3-368e50ff6124 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9ca3fed4-3874-4d77-8c73-286885e7e66c phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:dc247a64-dfb6-47e7-ae37-f1665b835f21 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:98021a4d-ff40-45db-bfc7-361a6c2f73c4 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:f995b761-79e0-4ec7-b031-fdd657bbf255 phenopacket.store:NF1.PMID_38596211_individual_11 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:a9cab8c7-ee90-4b74-b41a-bad28339b879 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:53d801b9-4f8a-490f-bde2-f86db45e2d67 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:efbd7076-1df4-45b4-84db-97016dd918cf phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0be51417-03e7-46f3-8c4c-eb6a7103cf0c phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:34a6baa1-d02c-40bd-8122-9c80abac280c phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:464a05d0-e626-41fd-af5d-917f366e594d phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c4e8f1e-ef59-4291-9b55-cee791ade84c phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e49dc6ab-f44d-4da5-8e60-fbf40398c41c phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ccf4877-39cf-4851-977a-fb912ab61543 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a8502b7-c307-48e7-9fe6-e97fa3048856 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fb51266a-9c8b-4936-aadc-a4bda8c00322 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4118ac7-3366-4566-a1a6-78972105e92e phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:135429d3-56ec-48ca-aa55-8f9a8630da42 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:520cf854-e794-4f14-9e9a-4806ddd62623 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ecca27c8-139b-4132-aac5-000e4494510e phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35c85d85-99f8-4980-ab0a-d1d2394e6ed2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3fc278ca-10d3-47f6-9fc1-3821bbb23084 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a1ee6b4-1691-49b0-be14-e614ce96548f phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f953caa8-23b1-4683-83d1-ec8dee552908 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a72f397b-c60e-452f-8396-96c2ceaec884 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:213c67b5-5720-433a-979a-53d2a2823d8f phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63cf3ea1-e04e-4582-b81e-06c5e53a390c phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4da89900-81a1-4424-9bb1-acf8d51e2ae0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:70c6c4e6-805b-4b0f-84df-b3d68e2cccd6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:50e1e9a9-e805-4061-bb97-5fed19ba16d9 phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:605e22c8-4a1e-4d74-a1d3-95cbbb9d83f7 phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:24697bb4-7c01-453c-abe4-9146419cadd0 phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:6f5ebee2-2128-4614-904a-76bdeb9512d5 phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:9f7f10fd-3e2c-4141-a1f3-051dbe937549 phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2e589fcc-357a-44a9-906a-65c6fc5f6b7a phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ae759cde-1076-499a-8f44-b54b6f520c30 phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d9da89ea-6384-428b-93ad-5f4eb0bf931f phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:21cdf777-8f83-4995-a56f-39c13d6a823d phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:641e851d-ed29-4a5e-b96d-8d8d2d0d5841 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:870ee75a-4eeb-45a9-a408-cd95411b7e39 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ac142c37-c1ff-44af-8bcc-f14b589bf6b0 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:aee401a1-f5c3-472f-8c11-e8af9f9e7b21 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:3d618f82-35d3-47dc-9548-00bdc5255134 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a869236c-b7d5-4b20-a4b4-600183189132 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:8451c753-9827-4cdc-9264-d8ab03e9037c phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c741f7c-a87e-4bd1-b6c4-bc22c0b349f7 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:02cb89cf-03c4-4d0e-b589-43f62690ea72 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:16f813bd-1bb8-48e5-8dab-1988124f0da1 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:71dbde6b-78e0-4ad1-bec0-163ea66bd275 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fc57cd96-8202-479c-9d43-c32403fc74b0 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:51248f9d-63ae-4d9f-bbdd-c3d2f979cd17 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b29a83ba-3f61-4c77-bbb3-c0911112ce25 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4ea20a2b-45d6-4207-94dd-eccb7f6d0cc8 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:c5c6a6b3-91b1-4284-aef5-3946c277717b phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:018b743b-1d08-440a-b758-81c339ea4e6f phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:70f18a9e-df49-4e09-9226-a30ef7e83742 phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8be659a-cec2-4a55-ba6a-da3c10a4da03 phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8aa4f153-f94e-405d-a5cb-46559de15b30 phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:acfd6f7e-1455-4dba-8c0d-f5067dd6fe2d phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:be3d61cf-c4e5-4cb2-a628-c3cb5ae68016 phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:745fee04-73cb-4e98-a6cc-fe3e3546d74d phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b0775278-b623-4651-8751-70e6368acb4e phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4f8bc278-cfbd-4f8a-bacc-16e5eb4fa8e9 phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ec49f1b5-29b3-4246-934f-a3b086963128 phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:77f2e3b1-24e0-4df1-90e1-3ac6a85430af phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:09df6727-c71b-41d4-b27c-1905d297751c phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:fecdd078-cbe2-4409-9d9c-c42b3dd4a4c7 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5b9362ef-c9c0-4ec9-a613-6521e762271f phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f3390059-6c44-45c7-ba2f-fe8d8edc4f29 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:da3375fd-45cb-4ca7-9128-6247e0a42395 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ebb4e399-f384-479b-9e38-ce6d13b97fec phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8de7f985-cb79-460a-a595-eb91ff25f23b phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6834e2b2-a615-4321-82dd-ca985587d201 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a238068c-a1ed-4745-aa36-345e3c621ea5 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f67ca99d-e00b-4a2b-89be-84c937d59d68 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b04849f3-14b3-47e8-bdd4-4629a0ebe9f5 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e9562a45-f0b6-4e3b-92f1-e20fdb68d6b0 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c0fe9161-fc9d-41f9-a0b3-5767983b7bda phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e9fdee88-ce30-4ef1-b104-f96a49333eb4 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8dfeb952-c043-4412-916d-cb8ae543b0d7 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:bd682266-20d8-4266-b900-48214ced1c62 phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d97e5b7b-0603-4fcd-bdc0-9d45b96650a6 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fdd4308f-4986-4aee-b481-c88842fc87a8 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b783602a-8055-4a70-b234-e3ba62f63753 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:161127d5-6063-4c89-a52c-64229b5d84a6 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:16d2af9c-3b37-4570-ad19-0722aac21480 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5f2de482-c670-4681-aa94-c65e86de9f35 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc6f876c-b616-4ee4-afbb-e6181ef21239 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c546685-1633-4413-9b03-a8ffcbc61589 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7dc61061-bad1-4314-ae39-703aba2df1e5 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eefc7a29-f1b7-4e1f-bf66-79fe03ac277c phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82132ab1-6073-4d49-a142-d1c4e85de218 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:17391c67-aa5d-42e4-9e11-b6aaa0cc50be phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b6f5f4e9-b405-455e-8c1c-6091d60eb2d2 phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b0b161cd-0896-4d87-9d7d-af193756e62b phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:74575d84-da9c-48ad-907a-24450e69b047 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0ff00513-a632-4a93-8627-2e842c1455ab phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a4ee61c-3808-4325-8e94-413e7d497285 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1cf9385b-7582-46f9-9a5d-e03453865024 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f41fa8cb-4693-4e88-84d6-60c6fabdbd3c phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:40abd812-9304-41d6-b49f-9fa80e7aac98 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eeae89aa-3e6d-4313-917c-db67b84a8540 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3c167518-6fd0-43c8-a4b7-6c2785ab383e phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa4cef46-7cc7-4869-bfec-881df52ce1b7 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fb665f33-0f60-4b28-8538-508f3036f9b3 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c3bc77d3-814a-49ae-94c1-ffa76d0759a4 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f90dcb9d-31c0-400f-94b5-143ae34ad475 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:939b885f-a43e-4db8-983e-c1ffa64ce03e phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68c452da-765f-403a-8dc6-695b7039fe89 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:99fab782-986c-49bd-82a3-b9e9eb41d9bb phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b686f39d-e556-4f36-b936-f940f605667b phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:da8b824c-f230-4294-b022-51828eb18b80 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4fef1528-ffd3-4a59-81dc-a92f75ac89ae phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4cbe90c-bb1b-4cca-b17d-47a453a7877c phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b03d7dc4-a8e0-4b18-90a9-ffad829fd67b phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:326d2bf7-5f4a-477c-9dda-7fb1efba8ca7 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:06dbe74f-ec09-44f1-bab7-200887cabbd6 phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:26962864-975f-4dcf-836c-d778fa0a527a phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:8c6054be-da34-4a73-99e0-3529c87822a6 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:8778409e-b5bb-4f7a-a472-d1e9a587ae6d phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:aace432c-dbbd-4cec-babc-dd76c8b577b8 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:fe7812ea-26bd-41af-8bff-6ce86c8cf8d4 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d78afc17-234e-4d3b-be32-7d2a597dffb5 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:613df9b8-6935-4552-b84b-ee15b1379f6b phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:5d08304f-55fa-45c7-89a5-d0c1d7164d63 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:39a12ffb-87e3-4381-8b32-fda080005def phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:6661275c-0d6b-4d16-85df-85c16a6c4728 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:825cb081-ab25-4985-93dc-edd1bff854e7 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:ae21616e-b976-4ff3-a635-b776ad06d867 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:671ce420-6c83-403f-9048-461af7438f9d phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:6673df30-b3fe-4206-82b9-70291df3924a phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:b5f4a400-6db1-41b6-86d9-6529718de974 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:19ae2284-5dd7-4d50-9423-d1351f365275 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:04dcf8a3-21f8-496c-bac7-34d1f1078200 phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:8d05f79e-2da3-4dc5-8c88-ed72b036727c phenopacket.store:NF1.PMID_38596211_individual_14 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:644bd8d8-201f-4e07-9126-455c705878ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R0892__individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:259e9afb-94ee-44fc-b420-63cec9ea9aa0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0892__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e82728f4-a7fa-4fe4-bc1e-368bd91e8de5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0892__individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2cb99440-6824-4362-99c3-60b06995909c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0892__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f76ebc3d-0209-4902-9cda-b871908556bd phenopacket.store:NF1.PMID_29290338_Family_UAB_R0892__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ab7b6193-23b6-4866-8cbf-08f17fb44492 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:bb3b0f58-7424-4f0f-90f9-5e07052d161c phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a55f8e2a-406a-423d-ab01-afebceddee1f phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c478e08a-d37d-40f4-9f52-803959436d26 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a01643fa-5c72-4abb-8a6a-0d96c93ad1e6 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:408d5b16-2d69-46ee-a38e-249d24db2b3c phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7796ea4a-207d-4590-91fd-a0303022be28 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7cfc0390-0b16-46e5-947f-4f23b313fe6e phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:11c081f4-b25b-4860-953d-b08ae36da05d phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b33a6799-d52e-4ad2-9890-cc507dbcbb89 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:853b2d5a-d22c-4e5c-82dc-22d2a1b54ffe phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:458adc17-fd12-43ad-9367-8bf6871f9d08 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aeac7eda-b66e-469e-8dc3-b62e361fb413 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fd8e9b32-73f8-4e96-9459-1c79d8fd5c80 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4f309d44-2849-428b-a882-cf97c268d215 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:097e1f03-b1b2-4f68-90ba-f4c83fbdb2b3 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4dd6da01-7df2-45de-abf9-6dee96734f46 phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0675d437-f4e7-4490-bb7e-9f9615c84208 phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:110758d9-a4f5-496f-b79e-e4d1c1a18f5d phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f59d18b1-6870-4081-bb08-7f20b68affa7 phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c046a28e-bbda-43a9-bebc-9b88a4ef772e phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:cac35046-22be-426f-abe1-9093b63aed42 phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c0d3f18d-0bc8-46ba-bd0e-dd93fb2a7f1d phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:81f2834a-a5e8-47b8-8d99-6f67bef1043e phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:153640c8-55ef-486c-b458-f462a388907c phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:749f8425-71e4-4f0c-b508-6e7f38f3ca52 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:08d5ff8a-c042-4c11-bf33-65a4e760a25d phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2ee9b126-7747-4522-878c-d681b185b23c phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:15caa694-1bbd-434e-8d9a-5adb0b910e35 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d4662bdc-4f90-4d63-8186-2c3202f22ba3 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:dd99028c-80b6-49f0-98a7-7836280dfb66 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e75ba6c0-04e2-4ef6-adf6-6c445f3f4e08 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d0647b62-80c2-4245-910c-8ccc2e3d8628 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7d1be836-7610-4279-9f20-3fe6e878d633 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:b04e1aba-603e-4c6c-b487-6f6be0eeaceb phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:7f286498-6bee-4b81-b0f9-10c6c8a7bf4e phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:726ad933-24bf-4f92-960f-67fb7c67a3ef phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5f2e25a1-f2a8-449f-8261-b40c6683496a phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:40a7359d-8e01-4d37-8f62-8360a52ff152 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:06ac2436-1306-43af-864f-e8fdf294ac08 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9c57923f-a2dd-46cf-b852-f2bac1083cd6 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9ca00422-ffff-4ac8-b44e-88942c8745c4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a29a84ed-6995-4b98-8f68-2021bf0da7de phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2277013a-5e95-4b4a-b4a5-ba9dc384a870 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a636ddb-eee7-4abf-9cc8-85eef411659b phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d010044a-b81c-4da9-aa57-6d50fb33a276 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b847bc7a-ba72-4c59-9ce4-3a92b7561cde phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:23bf7815-cf58-40d9-afda-0042b370c56c phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b13ae955-2368-4205-b3f9-25181afb49bf phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:80d8786e-a79c-4928-aca9-01c02f6bfc42 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5d516495-ac74-4cbb-a4c8-314a700c6b7b phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:76b94564-77b9-4f5d-92f4-8d5d0eb31792 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6a1b4d1-98d0-4159-9b75-235a8d6e26e5 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:33656ac6-3258-4bcb-9441-92da305d4468 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d5c6445f-76cb-4b35-9ef6-82c649563699 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:034b70b2-34ed-4ce7-96e1-ebe7f271bc10 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:add9abb2-9c5f-43fe-af07-bc95842c7cbf phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ae0fbb49-a202-40df-a99b-355ea2155443 phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:508ece8a-16a7-4e56-b8d2-711c551327ef phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0fe3e36e-a1c7-422e-ada1-13cb3dae070f phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b49dd4fa-a145-4715-a487-e95ce468826e phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:de99a229-b3d4-453b-ba75-b6e78495bb3a phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:71ade175-228f-4c32-a05c-6ef3051b6199 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0009592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fa279167-dbff-4cc1-bfaa-8100bf6149a5 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8f9e567d-e82c-45b1-bdb6-c5dd9f3ec428 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6b3cc83-8019-4107-86b7-3d3c0e066570 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35a83d0b-71a7-4583-aa6c-b36c34828d36 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82d3649a-e3cb-4402-b293-2b5f0ff18a24 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:09327c9a-6931-4409-aade-58809daf06b2 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dec56409-49c2-48df-8eb0-73c3d2a16c07 phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7c6d1341-1ec7-41ac-bc5e-539615daa46a phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a4f13b1a-6a81-4f3f-a53b-e213550c5391 phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:c099ca9d-1303-4c52-8298-94496168e430 phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c6c249bb-57b7-49d7-906c-9d0909be2cef phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:528b03c1-2ecf-4c7c-be79-ef871def16d0 phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:994a4efe-621c-4e17-a7f7-5c3203933771 phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:57ddfd34-8df0-486b-9800-0b58078728f7 phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e65a9c7f-3897-48e6-b113-4b6019b92832 phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b0a1b695-0e29-4731-aa34-9aa10be9fd1e phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:fc684b58-44a0-4185-be92-fc61d8976f7b phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:292b75c2-b287-46ba-b127-10a2b57d15be phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:47cbae36-3749-4d86-8d7f-d9020616a804 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:72d6edad-1d63-4b8f-b2be-2c092da9118c phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a919e96e-2c56-480b-99eb-98e7d0634613 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:32c57ff6-23fe-40aa-9c49-f81bc5f3762d phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3832bcec-dd2e-4779-987b-ce0cbaeea24b phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6882815-cf5a-4bff-89e0-bbcc0c9313c1 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:adae793b-2bb7-4bd6-894d-f4548e1ed77c phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e82d000-0cc2-4df1-8164-7ad0961175ac phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a8a523cc-6bc1-4b5a-af46-73c430712d93 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:953f4e7b-7bc0-4f7e-890f-3a749d09b65b phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7428e4ee-adbd-4822-8441-18c6486f1a1a phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1cf795cb-41c5-45dc-b117-21cac32838fb phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7e976047-b5b1-4530-b0b2-a804c6df84d9 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:227a167e-0edd-497b-9139-7e99491aaefe phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55121ae5-982b-490d-9c11-d92fa5b64f4c phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:00847bc3-ba6e-43d5-b0ed-4444b988ac61 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c94876ea-c581-44c9-8614-e14f53a30acd phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:3f951670-fa87-42d5-bc6c-55ceef4035a5 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:397e71fb-f92d-4565-a518-0fc31abd4bb8 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7f27f6b4-6d3c-4c7a-83fa-e65b9f09be49 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f30be273-89f4-41a4-a67c-24829b9866b5 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:99de22cb-327e-4483-b709-3fd081b2a857 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:326ba8e2-a810-428a-9933-007da2fdffbc phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:18fab307-aa53-4ef0-8667-c3d854eccfa6 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8552f283-7dd9-4420-8e41-c566149d0cc3 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:5fcc1f54-75dd-4fed-9af9-9e76e86d0de1 phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:ac2083db-a195-481c-b122-74f7ed5e04c3 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a233e8d8-f834-4ec1-87d5-65b5b343e97e phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7f708bdc-799a-41e8-aaca-f10340f4dbd3 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:17d4ce20-a878-4236-98c4-8fc714a4506e phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a36840f-85fd-451a-816a-01ae78f13d9f phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3dbfe5c0-d55d-4f06-8b93-2114b06bb33e phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d1c2d983-5b64-4d17-b983-daf8107f478c phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4f3d27a6-edc1-4462-a7f9-f4e449114fbc phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94655c96-b967-4d5d-926f-9b1b6264b4f2 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8f031102-d916-48cf-bd93-e15d1dfa6176 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bfa98eb7-0520-40f8-8654-c15cd5232725 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1b952f9-0952-4a27-a444-c10f6c57447a phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89682160-02c1-4ed0-99b6-0a673b928e9d phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d0f2c6b1-4e83-4e35-b785-144d1cbc4888 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:92de4a2f-78f3-4030-9491-f309c08da69f phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e43dc554-196d-4e5f-a840-49f3f55e61bb phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:60e6cbd5-bb75-4f90-9626-7a2ecf9f6118 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8baddfc1-4553-4f5e-acf3-6fae64142efe phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:11cf5408-a869-4244-9a0d-da322d03655c phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd898f71-3d9e-4da8-99b1-432b147f7ff2 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:24ee3f72-5f4b-456f-9d57-7f92e2824775 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d5ff43f-1a27-4264-b1f4-6cbdba630a4d phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:857a092f-c72c-4462-bca0-8aaea73940f1 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:dfdc2c94-c7d1-43d2-b6f4-2cedaefa1c67 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:23706b8f-d32f-4421-af49-91d7b5c72d5d phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c5dfa81-6dd9-4557-b64e-697efcf95d50 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3f98c722-4323-4ac6-ac5c-a7ac6220fedd phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4d0f42d6-38ce-423a-83b0-98ea5e9826d4 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:87aee670-17ed-4d61-9037-40607eb51e17 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf8ba060-cc6c-48d0-9cb0-0c7b2f2d0702 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5e65d978-f037-4754-8710-206661a1ec81 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4cab2e3e-9a7c-4bac-8d99-d991a6333cdf phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:be3d3e0c-92bb-4148-8a8f-6a494d49d3ca phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:da382b7d-647b-489f-b4d4-bf94c2ff3d80 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:19207844-a61d-4aba-9aa2-dfe66c5cab3e phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9084c4a2-56ab-4491-acba-898d8c774f35 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0639d73a-3512-47ca-947b-5ae22d54f19f phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6c9b18a6-26d7-49f9-925c-6f43cea84708 phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ad0f08e8-762a-4ef5-9b5c-6a1de9151df2 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:d7fa7cb2-fa7c-4cb7-93e6-916b65c15f5a phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9ce976bb-f977-459a-8477-85a520a15fce phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c188096-794e-4b7c-a6d0-95dbbda4c475 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5e488148-0799-4f60-9863-e57437e6fdc2 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:776144ae-4f27-4a83-9c99-1ab5defa1403 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9156363f-f61d-4157-aa28-d198a422ed6b phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5759f1bd-3553-4795-98fc-433af8e93b80 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:08a903ec-e3b2-4bcb-afe7-953610221af5 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f432e371-0e8d-4fc1-af38-dd22fc1dc591 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a61b6ed9-2ee9-413b-ad13-15ed725a2b46 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e33addc1-87c8-4723-b28d-7a0c2cd044b3 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8bfab068-2fb4-429d-94ee-8b261de13c7c phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9f0dcd6a-cf95-4f1d-a1fe-ad61c9ec5143 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:15ed495b-21ab-45cf-bb7b-89c9799e9df4 phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:74ab839f-a400-4d5c-ae69-72d6866df193 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:30e392a8-803b-4f65-9082-fbd5258a9738 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:00be387d-3840-4d68-9c72-80f36920b6e5 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fdc90fcc-42cf-4549-a83f-e7f7a6a9a272 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:378f654c-d80c-4226-bc20-8bc43ad173f5 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e65736f-adb4-412e-b59a-a97fe33dff97 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:27f09a2b-a928-4299-bf30-9609b941cef9 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dddac2a0-43d0-40ff-8edf-62dd8c93baeb phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a456a47-8bf1-460e-a0bf-566693edd4af phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0b4d6f2a-9f9c-4f79-bcfe-b26fe2b1e6a8 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e5f69c37-fc19-4f97-80e8-ce0e9063fe88 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4918a2bc-de9e-40e6-917b-9e6e24080434 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3c056ec0-4dfc-4e4e-b2bd-740e98623578 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:26d3556c-7c45-4134-9f1f-9dae670f2a05 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cdb20fe2-b524-43bd-a867-acc1ab5f752b phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:fc9fd529-a57c-422d-b80f-fdc6fb206778 phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f57f8288-0cbb-46a3-a7e9-d17be8ef1cad phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:835804c2-8bff-46fe-9cc4-77c6c68cded7 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:65a1749c-d9eb-457b-b387-2459d018be78 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a89dd0e9-817b-44ab-bb58-718af2b7db61 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6e449743-a65f-431c-b7b1-d14a5450aae5 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:04c81a99-0353-4d9d-a4c7-5f3212f08c44 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:485402ab-d9e0-4da8-9f58-48533483c97e phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:967b5cd2-2e9f-4c49-8917-9bbc3f289ab6 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cc62ee9d-4289-4014-adea-93e7e3102fcf phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9aea2a59-db68-434f-8d64-556da0f53459 phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9ddd47bc-061f-4e1b-970f-3e33dd2d003c phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5075f5e0-3a99-48cd-8b3c-910da65a680d phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3bd2e5de-4929-4f26-92a2-3b8bc5e3ef93 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:7dcb716b-fefa-49bd-a556-ec39102ba123 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:754e5ab3-d531-4fc8-bdc1-f3794521f47c phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:662f8188-4553-471c-9301-d27034bcce1b phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:38f35455-c426-40ac-bb2f-58566b80b460 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:7658e89c-9d52-4122-bb66-cbac5ad47f12 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:d0a46ee2-2eca-499f-8383-3f7eddb7503a phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9101303 uuid:d66e4c69-6338-45a3-8688-ad6053711b69 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:cf4ff3cc-e604-4f48-9bab-aa99b63df286 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:d31665e4-d4b6-4424-837f-b8abc7220bbc phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:83bf64b5-0f7b-4686-8d5e-a26443819854 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:445ec156-a3d4-4499-bd42-d7f657aa0344 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:132a9948-f236-4d2b-b206-76879e4724e2 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:0a607f75-7584-4f08-a10b-3be9d1295599 phenopacket.store:NF1.PMID_9101303_patient biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9101303 uuid:ef846c7a-3d64-4adb-8ee4-fa945f94a63a phenopacket.store:NF1.PMID_9101303_patient biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9101303 uuid:12a93055-a983-4ed4-b4e7-4b6b2cf354b0 phenopacket.store:NF1.PMID_9101303_patient biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9101303 uuid:160e95f8-48dd-43c5-8b67-037ffdadd728 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fee86527-6faa-4b84-a1f3-fb520aa33a20 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:656caf1c-bc43-4913-bfc0-36e8626a0dba phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:819cf78f-2ae6-4183-a133-ea8482a44345 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c8e55b56-36fd-4f75-88f1-52288718f817 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e66b3dd-3596-4546-a617-f7fda91a1d9d phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a2cae5ae-f3ab-473c-add4-1ec16e24a987 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:24ca7cc2-f49c-4254-a2f2-66b41d3d28ad phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3617b2a4-3d07-4223-8210-2ff03c7a7314 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a70695ba-bb58-4b7f-b933-389a91175276 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6721ed27-992d-4641-a5be-824937dd147a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38b095b4-8870-4603-9b64-8cce5801c434 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:454c7b37-683a-4d2d-86d1-08e5385944cf phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4636584-76c2-4a14-929e-ff331896524f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dfef7bf5-4595-4ecb-bb35-391c34d8590d phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:01abc110-de1b-4202-8f03-f1c313f67800 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:723ab4af-6104-4b73-a51e-c546a249f9c0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:178331e3-6c10-4b75-9a93-c1e2040c1fff phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78920d95-ae9a-46e5-9142-a42add77cd5b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:72113bd9-d609-48c7-9548-da82c10bd47a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8bfc7829-fa2a-45d8-baee-2a7fbc9d10e0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2cc5187d-528f-44e5-a991-9036c4c7ae01 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fa21ab8-b62f-46cd-be46-f3faf2c1e77e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1fb55dc5-342a-4262-bed0-c70aec12cae9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1b89092f-50d6-4597-8996-2b5c02bb4562 phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:25398bff-3cb3-4370-b6ac-c94234914b07 phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d9889681-62c6-4bc2-8ed3-d75a346cd449 phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b9ff59ec-f1f0-4a62-ac01-4243cf400c57 phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4eea00eb-5845-4a0e-a695-47bcb5ec44cd phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d6ec4a4c-8c80-43ad-92b5-a5c00474a722 phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:99a14911-e236-43eb-8494-1bc317b8202f phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:afc0ead1-2299-4c1a-894b-df1468abab2f phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8aa51ae0-6321-4265-81b2-8e805a64e58d phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:749a2f5b-7d61-4959-a84d-b622aad00c17 phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:b7c013fd-7530-4bf5-9a8a-cff7169d6ccb phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:dcea1ee4-db9a-4016-8779-282c4739b384 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bd663a56-cbfd-4f30-9c71-cd54e4458927 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:347608f3-6a6f-429c-82e4-b613f981fba3 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e81d3560-b08e-48e3-84e4-7ecab235bd3c phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:78983713-00d4-4d34-ad22-9704dac4e454 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:37cfff8f-854c-4554-9405-0d47789f354d phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d2c9581-75c3-48d5-b100-52ee6af1f422 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f21cef41-3b87-4611-b076-8b825cc7e62f phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d2346ac-20a0-4a3b-9aa8-944954afa487 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3bf985ca-be2d-48e0-8997-40c23d72788f phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5d3e0918-4e32-4c4c-ae15-fca0b4320372 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6edb5051-e119-4604-aa30-a1abb3ee4a64 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1a522850-355a-46b4-970b-cc75ca5cb3e5 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b37b45b-ede0-4eb9-9cc8-52c545bcf7fb phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:831d7138-bd09-4b2c-9277-bd811ded9fea phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1ecfe432-95b2-41bc-a5b5-47ce4a210781 phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f4881a44-a49c-4789-8319-18441490a226 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6f1d0417-c5bb-4508-9561-46be12a69bc0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:52226608-b555-42ed-9d02-a87354488808 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bc4cc1d9-3c77-4420-a73a-8acdc0507292 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd6f6bbb-a36c-4ca7-9978-1af50165a863 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:761915de-21cc-4184-9442-26be9c13da45 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94f074c6-63ac-49c5-94f9-9727a4a55ed0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f900e832-0fbf-42b0-94d2-e352260792c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4885c318-1ef0-4c26-bdf5-d229b008b5b2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:74abb32a-4dec-44de-a1a3-f50585d336ef phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:583eeb8b-fef8-4655-a97e-94529a6a877f phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4663e20e-1048-4c6f-8fb7-86f2b0889a1d phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec066875-f748-413a-8053-f058e948a75d phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f6897374-a59e-474f-b1d5-9b88526ff82f phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a43d7929-c4fd-4559-af2f-372ddf2e5078 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e087fb3e-4dfd-4192-a225-a6351c3e31e5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:09ac9cb5-1498-4aec-8ff2-b6e26c28135b phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e714a1a8-3f9f-409f-bbd6-4f6653f76333 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f825114-31c8-46a8-9e45-e7591309127e phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:99d719de-6c5c-4673-86e7-da09bf5eb1b3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a0c2f5fa-2ede-49c7-ba00-8b44adde8519 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bd0ce9e0-06e9-4fad-b357-7f635518b9f6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:eb0d4fcc-fe7f-43ce-8f76-949c3b786e28 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:35ed734e-babc-4ce0-94b4-a3635cc8c6b9 phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:82b1b6d4-f0c6-490b-81c3-9520f4d3e523 phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4fd75c6c-7206-4b46-b9f5-e28fcdf271e8 phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5a1f743e-e412-4e1e-b601-17dcc12df6d8 phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:52e50599-18d5-4aa4-ad7b-c832e698a04b phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a054bc28-ce13-4f4f-954d-61859be616d2 phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6c980907-842f-4d6e-b150-cd94eb9d0a0d phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:40640c6f-eed7-4d46-9f16-0680a7d628c3 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f69c9b5e-056a-49c7-ba59-65de2c5071d0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c6328812-43b4-48a1-97ac-8cd0d3912a13 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f1a010d5-f012-427c-ad54-e26b74c6e4c4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8a647965-d401-480c-9592-a9a168b0f57c phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:450674b6-d441-49b8-b52c-152a477b73e6 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:337d81bf-f4f1-4941-8b27-b5af0c9b94d8 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab68a7ac-c957-48e1-893a-a32ca71cdbba phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b27389c3-94e8-486a-8548-24078af1e02f phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d2575ca9-9b43-4398-a8b7-44f3821736af phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2eda7f37-0c9a-4a96-8d8d-6e20aa034343 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:775aed8b-facc-4cce-a46d-9f580d7f1d94 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:17bd469a-326a-4e47-975a-ce3d8b59b1c7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3292a81d-aeca-493c-b382-1e4cb2d915ff phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c47d650d-ad93-49d9-afaf-f69887481f49 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a36dd64-6127-45f7-82e2-881f9cd54fc2 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d4823daf-dc28-4199-b74b-8d8c6bd9ff8a phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc9bb199-12a8-4198-a4a0-4562f99baaa6 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6e317714-ab1c-4719-bbfa-a962711c9575 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a58f311f-6e59-453c-9609-e6356c0e7e90 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:da1397c6-e1eb-456f-8032-4d17ec24a9ba phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:de33e0cf-37f7-4a2e-8702-cb83234a06d9 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7445ab0a-14b9-48d5-8f58-f73ba2034aa4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:deae4c28-0f08-4417-ae5a-9e3ba0d2aa0e phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:878dc932-6dd9-4f3c-86d9-b478adf2da19 phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:601ea103-3928-4276-8b41-4779d2ea6e32 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:60939233-8c61-4ac0-8da1-d126b7d62757 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:fa277cf7-4aa3-4273-8425-642f931b15b6 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e10a4442-e9cf-455b-b8a8-71c28254aae5 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9749da70-af1c-4b38-ac55-65c106984512 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f8409a32-cd43-42d2-a280-82f320491c16 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:25702d81-6a94-49db-a543-3a726f5356a3 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:af628ec8-7776-4ce5-871d-be4a70ce16e6 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:73279261-11ff-4d0c-a1a4-69e02e4f3410 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:92a88d4b-b813-44c9-a131-af438cee83a2 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cc8281c5-af1c-4a19-918c-86330afba715 phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:eec22a8b-e942-4e08-b6c9-42a4c6e2cdee phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5122ce39-74d0-47c6-972b-8fe1654e68bc phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:549f532d-8f36-437b-8a80-743b17206bac phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e6ea7823-4569-4e1d-8b11-d821b43d439d phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:31df6462-4441-4868-8ebe-b3328b0056a0 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:00c0e7fa-05e9-495d-a4b9-867e230ed53c phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:86bbb97b-7432-43f9-a416-17d7393f3a0d phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8d01c467-3d6a-42c6-8933-7f32c079fc35 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6321f21a-e978-4168-b959-610df7b0de54 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4f70d61f-18ab-47fc-afda-d3508d6ea7be phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d86471c7-c17f-42b7-8c59-065185aa48de phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9c77386b-c73d-404b-a239-92b0fecde91c phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:85c18974-c0fb-4565-bf38-b9ec23cc5b11 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a29073d2-cbdf-4775-9888-efc6996bf3f6 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d85ea727-1650-4d2f-a29c-20dba9955b10 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9795ff8a-1308-4a7e-8ee4-ea8070d51cdf phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a0abe46-62a6-4b9c-9ba0-3931d31243ce phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6b266b7-6d29-4fd5-9e5d-3179f82deca6 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fdf64416-e775-4bdd-936e-5a8767428cd2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5d5fc215-7b28-4bc8-8c46-5228f5e67fe9 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0249688a-8e57-4e85-9705-0d4d3356baa4 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:05065cc0-ca90-452b-8c2a-1814f5b72d0d phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9264d2d5-ab1e-40ad-856f-5e2b22790344 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f7236f1b-2751-421f-8874-0240d6940719 phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b32dac52-a835-48fd-a5a2-5062605615d0 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:75d5ccfb-697a-4a4e-bc1a-1d0f69a14bdf phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b73de585-33d5-49a9-8ed3-a6d76e7a1f2f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8431b406-9384-4c9a-a1e4-d4e1b2109366 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94044be9-e40a-4882-8118-a694758404d8 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e0ffd58b-9131-4a0d-a753-7959d3841441 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3c8dfaac-2575-4aae-a637-0d7ac7814175 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1eaa083d-1de3-48fb-9e60-62246eff5c6a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91794470-5c7c-4515-914f-d3966e201064 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c6cc99a8-b297-42e9-93d8-6101765ff16e phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a236c6d4-19f4-4505-9470-2921f7b5389a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:874920a5-922c-4050-9813-e42caec30ec5 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f455b4c-3316-48b0-9775-3f30915bcc83 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:873bf587-7c56-4066-81e3-960e5b5fc6db phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc988c7d-80ab-4efa-ad15-88bbf6c0d7f9 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8b46a05e-3d45-4e6c-bd77-9de592acfaad phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc9362d3-2b31-4f8a-b693-0c2e12106a5d phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:17db18f4-bcee-477a-bff5-b9c6b82b4984 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:764ebc5f-818c-4131-8af0-57f0cdabe8ca phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2ac5a7d0-ab71-4b1a-b99b-b5e52ce328af phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:06421da9-7944-4355-865f-ae0099f19394 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8cbcfcbc-326e-4a35-8f9d-0c83cc0d2d24 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:482054f7-8c7c-4478-82b1-ea851dec2d59 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ff3da44e-24a2-4b41-ba31-085e6b136e39 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cd76ec55-7765-4bd7-a483-b6566bb58d5b phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5ac8543e-a0ff-46f0-94fb-aa793d83fa95 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5c71d2fe-b380-46f2-8786-8f99da8fb267 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d668e6aa-c391-40f3-adb5-e20e0a1e12ad phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ff81adab-9c6c-4ab3-af8f-4817836843a2 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:57b90f1e-fd44-4608-985a-b1a4e8cedce1 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:22538d58-69e7-4b24-ad2c-8922a5f86a7c phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4f465543-7deb-4384-8726-f23f99a86449 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d49a2f92-a666-4984-a252-82aa1255b7e7 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:08f03226-e166-4341-b70d-9a5757ffc2f8 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2898d6ca-a800-42e7-a52a-a9edd91a726e phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:afba59c1-0746-46c9-a8ca-6066af5e95bc phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:78f5e2f5-6967-4302-9087-1daa8cf5ecc7 phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c9b2e34d-cded-425d-a65b-d57e9a5fad6f phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:336eb10f-66c9-4082-bd3b-a3c05fe0e81a phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4336fda1-8df7-4d0d-9ae2-9a54d639fbce phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:30f8ce03-f80c-4a9c-94be-aa19c518fd30 phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7d5903c6-a313-4c7e-a5c0-7b1ef33193dc phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:56195200-4279-41b0-bf72-7f6df17d61ff phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:29592e10-09c0-4b90-bde0-f153462db63d phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9120c9c7-6864-4fae-875f-5f9a53e6b9ce phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2595d079-68d2-470f-a789-aad93cb58abb phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dc2879e3-85c3-47f4-aba4-0b1fc71d7969 phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6860e59-9766-4c3c-8a9c-1883e9e6f283 phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6bc45c53-76d9-4434-ab82-887ea95eb5f6 phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a09be81e-7e98-4cef-9417-15c6ad024a4b phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4dbe70bd-a745-450e-8eea-c1fbc26c67d4 phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:181d6328-90c4-4a84-b480-ea66f05c1455 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:822f2411-119b-48b9-9288-f8af20514620 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:be35c780-f923-404e-9564-094b18fedae5 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d8a6ffb9-7118-4aa0-abf2-7ee4251138a0 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8d300a29-af2e-4438-8970-8aefafd123cb phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1b618872-9290-4f0b-a234-1b409041aa0b phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:22b25c4c-acfb-46ee-b76a-e6314078ec32 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1b9a4813-b4e0-418d-a427-e6ebf5ddf9c5 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:051ea773-cf23-4122-b199-f89e8a774a0f phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:75813dd3-3f12-4e51-a9b4-6c69a9e30e63 phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:c148327e-193c-4b3e-ba74-0a0c504a20d5 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:845ccbc4-f11b-4d2b-9d44-eaff19a6de6b phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:16f6b78b-354d-485f-b9f8-0dc5cc363180 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:199ee350-bcce-4be6-b98c-7b50334f05b0 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:caeeb8e5-c49f-46c3-b769-b68367e0021d phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a1e5770b-e736-4856-929b-8407f14a12ef phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:549fede8-ece4-4022-a84e-1799d8888554 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d343f468-fa7a-4b05-bc31-c33d1fc222e6 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c6e510bc-9893-4d5a-a965-2ffa05c3b0fc phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5625bc1b-45b6-4895-87b7-471e2484f1e0 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:790fe009-63a6-42e0-9eb7-e55bcaeb3bc9 phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3bc8e86c-c575-4337-97aa-c0c9413c720b phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0d817795-7fd9-4330-b133-ea4c08572165 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:07737fe6-98fd-4529-b357-558ea7aa0200 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:67ff8b40-d9dc-4240-b18c-422504cde4fb phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6cf9b7f0-ee70-482b-bdd8-96b78e1c0250 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7598088b-a841-4d9d-a541-408da2e125ce phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dbca4ae5-5114-4572-80d8-23045a104ab6 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2a5cd26e-ea15-42a1-ac4a-bf5d7723c568 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e12cdb32-272d-4002-aebb-f68a8b9d57f8 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0d51c21b-6e27-4ade-83c6-2be25e6c4191 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c56fe0b9-ad17-4197-8e80-2bb9ba140ea7 phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:72d167cd-b795-4f9a-b1cc-1a5ba1e7862d phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d1adcded-af72-4c19-b43c-a439fde5abdd phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:3236b5e1-e86d-48b6-a218-51fad91b9e20 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:80df5a57-9d2f-42e8-ae44-66d4b4025917 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:86a3b2cb-f979-465e-8818-b1159b0a7cb2 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a003f1ec-6e60-4956-bca2-af8abe2b0c40 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8c00be5d-4981-4835-8fbe-13a17f5076b9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c4529c32-7386-47cf-9cd6-0d2d589d2721 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6333ae03-a7a2-423e-a6ef-5dc197c97a79 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd60e8a6-442a-48d4-be7d-3034186301a0 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e2349392-8511-4ffe-ba35-38b2edd50583 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0b62bf1c-9c9e-4e86-96b2-5e87f58a6748 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:af73e7ad-8259-457f-aa80-6a8fef4b3720 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:791692b5-c871-4962-899b-97a33ec683f1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1870031f-81da-4c21-8cbe-89a691f9abf6 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eecda1e4-de37-473b-a940-11a12cce1138 phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6182782-4186-4d4c-a776-e2e0a5c077bf phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ae41eacb-f8dd-40e8-bfa9-d46e7899d75e phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:321bd5b0-2b4b-4b0a-8757-789bcd997815 phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:2e93d549-8448-4f25-88c3-af1e35be447e phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:267bb97b-837c-41e7-8c96-8fb179929163 phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2971bbaa-e447-4ee0-a2f6-f7d99f6aed7c phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:380f18c8-265b-4371-97f0-07ac08e9928a phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:dcecd0ab-d0e2-4e4b-9e01-f0b4b4e78703 phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:984b374e-15a6-423d-9213-a278d49ff35c phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:de93eff0-cebd-457c-8990-123d52eed9b9 phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:58a6c537-fd00-4424-bc6a-e4ff89712b5f phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:2d402640-9c78-49d8-b555-b5017957c6f9 phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d3cd99fe-a0b0-4621-8725-ae9e6c1e3bca phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a3d76d90-2d89-4585-b7b2-593701e3f6f7 phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d6ec422d-f2a5-4bc5-8223-8fa3efb3770e phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2f67c575-d55e-42eb-9b70-e0d2f3ad7af9 phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2f622c5d-cf78-44cd-8823-67609d2af04d phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5107b42e-efcd-43f2-8e41-13855884720b phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:fce9b8bf-783d-4432-b190-725bd7d29c1f phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:1e475816-2483-469c-848e-227879ad78f7 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:48ebd73a-695f-467c-8fd7-734e8c8cbebc phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:504ad9e2-feb7-4d61-aaa4-57ce449e25f6 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d810a2b9-7c77-46aa-a997-e13542b8f9e6 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ba05c206-080d-45df-a197-94ee195588ff phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7c03e35a-cd4b-46f2-9e6d-920d30dca130 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb8625d3-cf7a-4179-bee8-126b764b4961 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:05b28703-70af-46ea-bb2f-9528f483647f phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c9d893e-133c-4f61-a98b-a21a118ef165 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2d403879-6b16-43cd-be42-504c4cdb5ba1 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7a63cd52-1069-4673-96b8-020076ddd5a1 phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c11bb48f-788b-4926-bafc-2a7c9f8207be phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fb65d773-6df3-4a30-87cc-51eb33eb8afe phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:65d94cb9-8094-475e-9801-720ab2f4ee1e phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:78913287-538c-4e18-ab80-da3b0cabeeec phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b22f3f49-33cc-4fc5-b785-dbb22d43920f phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4a76730c-2176-4e45-9d87-7acdeed483f1 phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:292b8909-a08b-4f8c-82b4-9926e23bf223 phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:120dbf2b-59dc-473c-a758-1ad9b27d11a2 phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3d1aa0ca-7786-4f4d-9acd-c78719c677be phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:300f6cd0-b692-4627-add4-7c1f7f265810 phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:90331d75-9e1f-4ea5-b37c-3283f29378aa phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:477f5480-a741-4528-9726-cb3a53edf23a phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8448428e-8c70-44fa-acd2-c340e5ed8a30 phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:192f9bb2-4e1d-47ec-af07-a6992c962c0a phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3f09b433-c348-4305-9f7d-0089a99f395d phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e05bfefc-ed11-43c9-b271-2e6fe4f7f51d phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f86fb830-7204-4740-bd85-75cbe6d87418 phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:659cff68-5e67-4dcc-9e62-8ef5fc0b7a2b phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d7529cd2-7e7b-4985-9d85-766f44da0a4d phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:592e61aa-04db-4ede-92b7-51fe91994ed1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:acaa23f3-d791-4545-b493-8456a2c1234a phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3b5dab2b-5370-4231-9e4e-91c37975e3f3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8aef26df-332e-4bbb-83b9-c00146297455 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:903373cc-a8ff-4f79-b96e-30535c7a4d7d phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c55c8ef7-cf7a-449b-b8cf-f6ca7f428297 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:43a7158e-6142-4ba2-8c5f-2e35bce9dde7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:05838f83-9a65-4536-9c1c-25f31a64a9e4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c540573e-ed2c-40a5-b2d6-9855f798ebd8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d72fa36-1625-43fa-b8ac-34a6aff9c4fc phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a5fa074-9ede-4038-913e-7ead4d54b703 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1d355b5-bd46-4d52-acc9-6087d2e552fd phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c8e4b823-4a29-467a-b7c5-3d72c4607224 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e215c387-b79b-45aa-a21c-7db4393ed98d phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee79a024-315e-4299-ac5c-38d7db3b2b30 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ed4bb1c-8de8-4c5d-931f-5e581496b5c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8416d19d-f139-4e26-9439-a72396c93517 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:79bc51e2-5923-484c-9902-6ce01dfea5d1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89b50735-229b-4175-a339-68b605978110 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec5265ba-592b-4d10-b967-b7ee9cd44aa8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a5727d48-866f-4e09-90a1-064afb18f53f phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b30e5ac4-d580-4cdd-a8f6-1f4bf31b419f phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:83eaed77-bea1-456a-bd77-440f03d02075 phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:634244e6-63c4-413b-8b27-17c48dc61122 phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:266c540b-9f8c-4c96-83f6-5e572fd6f28c phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:af158fd4-76a0-44e1-9ac7-f046fed5766c phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5146082e-130c-4c6a-8937-a7ae99b3589e phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:41aa2be6-dfeb-40a4-a668-8734bcae9a52 phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7a7e0f7e-06a0-4a74-8250-c28eebb86516 phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e7005a30-fabe-4ade-9262-00d1305f2dac phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:62bcdc53-a8d1-4c28-9bf4-0bfe2966b877 phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9cecfd3d-be32-4995-b1d7-c253fcbab19b phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:98c75815-4cae-45a8-8c90-3bd61db50490 phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:26630ec8-cb9a-4110-b1e0-9be8d6ac3b83 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:94bcd555-3bf5-4c22-95ce-b2cbb170407a phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f1e926cb-2206-4021-b1d5-93bd9121f423 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3080ede1-436f-4d7c-ab2d-e7ee9da9084b phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:491af35a-8185-42ae-838c-a87871ae01f3 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb26c8f5-a19e-4b12-9408-bc1dd3806941 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a7503e50-0f21-4469-be4b-a4a1257f93cd phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8620b06e-ce9e-4a4f-abe3-6fcf5fd7d39c phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9474af35-90d2-41a0-9468-07b4a2ae5b00 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fd0f22d4-bc57-4191-b7e8-aa7b5a0885d3 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9e0535b1-40b2-41a4-ab36-1c7a00409c38 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:85986e45-cc2d-494a-aac9-41780f852705 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4d7d04da-d9e6-467d-aea3-74845756b913 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e89caf25-323c-4802-b0db-c40e5555bf0d phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:873556c8-c1d4-4240-9eba-a39627771127 phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:36de941e-6859-4423-8fb2-c08701208fa1 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4c21de45-7787-4bf4-ab38-188aa03b7659 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7c044864-200c-4691-a805-e62a65c4dc7c phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4a8e21c7-aaf0-461d-8724-90c095b4fed5 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7bf034fd-24bc-4867-82ed-8847941600c9 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:03c2f671-24db-48be-ae52-b5e1c7484724 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:432b892d-607d-4018-aecb-484ffd97e300 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:689c83a2-6c24-4fd5-95bd-d0d4df2c2475 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:94bfa630-d9c5-49f6-9d4a-8eed6b933d62 phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1a1c5d9c-50fa-468f-8669-78fea341e4de phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:0815b21d-8a22-4e0d-90ff-612c15797972 phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:60abb62e-6b76-4889-815c-fb63c3714689 phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:cc0dcc96-33c7-4435-91cd-521fb1e54bbd phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:aa968516-52bb-4cc2-99e8-bd14093fa617 phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:906c2f3e-87ae-4a67-a784-6e0e174a7d47 phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c592a939-b9f2-484a-b7e6-793ec383552f phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:375787c5-d416-4418-92b6-f6405fd52c8b phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d1da5bcc-823a-4fad-8aab-9338fccf253d phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:83172b41-6884-401a-89e1-a37780626295 phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:66e87fbd-e9a5-4279-b100-ad0fa5a2cc13 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e3e1ace7-58be-4636-8eed-a8ec14bccf9d phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f1aa6b51-7ac4-40dd-b207-23d252c5df26 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0129559b-8c37-4b39-9519-1828ed6b66bb phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a393c975-1960-4c9d-a1be-821a14c49852 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b6c05f4b-8da5-40c2-817f-fc302a293728 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:adce77c7-0d65-4b7e-a17f-c65106e635a0 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:34d3e703-4fbd-45b5-a16b-9367c3346fdb phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:67639c98-d2df-4d56-b0db-de4617984362 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2df9ac8c-e76f-4cfa-823a-f18d8e0393ec phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:70ffce33-93f2-45c2-84d7-42c88cd3a237 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:670835af-374d-4f45-b87e-1fd9c7541d4e phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e57420c9-d37c-4fc4-a3e4-e01042bad5d0 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:daab4d4d-415f-4637-9679-bbbb42179044 phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c3578c5-ba20-47c2-9d0c-d03961249d6f phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6be93a47-44a9-4e29-9258-5af1eb3dca8f phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f4131709-9ed3-41cb-b53b-08e7c7134945 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:61e9e0ca-97b5-413c-a6f2-7f8d0e0797f9 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:be673557-e07e-40eb-8af0-9336671241d2 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:fa1cdbb3-10d7-4651-a5e8-1c75d107c231 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7607663 uuid:d3b26250-d2ad-4a67-acd8-6a27e4e81edb phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:91d78af7-ee32-4d90-8ffe-960a54959e1a phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:5df4a841-0019-42d4-98f6-23e4f903dae5 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:ca2895fe-36e1-4490-913c-7a4d92bae36f phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:16b60008-acf4-4f0d-a882-2fbdf0ba61a9 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:b0877806-8d9a-4489-9b72-4bfdddaa2cae phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:ceadba14-c22c-4e20-8f94-73f19126e3f2 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:03402f1d-abbb-4b20-a29d-1032559d24ce phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:069f01c4-b4d2-46f8-9944-e5f343bf47e3 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:6d0b8489-db5c-4b2e-8ba6-2b090b9c67f0 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7607663 uuid:44153c87-4167-4d8b-b3f2-1b4d04d79461 phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:7607663 uuid:7201b6e2-8416-49c1-a8a7-cc12086eb35b phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7607663 uuid:bfb1583c-6171-4c75-8708-c287bcb2ca6f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d47efa04-e180-4c0f-89e1-4dbbe0444b0b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:72a0d6d5-196e-4a39-9350-7a1cc4f49d37 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:febba245-408b-4884-8761-fd0f8d09f4e2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7d4c414e-666f-4125-beb0-fc6a4e80e556 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1c13ca2d-d695-4ee6-bb65-a6171ad2583b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4c15602e-07f8-4298-9372-3a1f2ad668ab phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:11e5e528-3e69-4a41-a733-bf365e0f8206 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:41de01f2-7939-495c-9a26-5d5ece93ae3a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9be8d7b3-a119-4bfd-be9b-921f1b626454 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:65cb70fa-213a-4153-b87d-82a930150db1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a769a1a8-9d30-4cd2-b3cb-ead581069dc5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8871963-745f-49bd-925d-14026580ca18 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ecc5a40a-e5c9-47ab-a378-4796799a9971 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fba166b7-d6cc-46c6-bdb5-36dcd29aa2ee phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e32e647e-cbfe-4448-b403-02111dd45450 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e0ca1120-da68-4591-bf59-df4186b2824f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:023d46ca-66bc-45ff-bdb6-dc01b9a88d7e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ee907dc-f0c7-4d60-a73c-fb388cafa1c8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2bf78b4a-d855-43df-81a4-f11968dc50eb phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5d3710ad-06f5-41a0-a710-c41ba40464e6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55dc4c30-8eb1-41b0-b2e0-f894f20c3629 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c920837d-44a0-4980-aa24-bb742df02a96 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fe1dd744-b391-45ef-9c44-71a411982b8f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:11e626e1-bc19-4db7-932b-b06548507908 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3c6acac1-4cbd-4bda-adc4-771a2d83a870 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:613805ca-b72e-4550-9827-363263661352 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:28a36044-071b-4cdd-aa8f-281c8e42bc14 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ff4f045b-a689-4853-b471-025b9e61320e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:41fe7781-0b52-4ce1-9402-c56c3974d98e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8ce64b88-e15c-496a-ae80-52379cdf0d9e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9baeab47-6d82-42a4-9238-a84ce62d1e2f phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bd38ce85-33b0-494b-8dd1-dd9ae68a25cb phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:662f9272-e399-4d14-a85b-5a68bf06bb83 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b920108c-b610-4cb8-a0e6-6674ac028e0b phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:36956d7a-c041-4194-a423-c67f39a7410d phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fd81acaf-a71e-408f-b367-00b5a9b006a5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a93c203e-2086-48db-b7a6-a834af5cdc9e phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:568373b5-a891-40e6-be02-65cc26080dba phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:be1e3cc6-2ce6-4e23-a894-3d0a6a7499a6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e81d0984-5190-4a30-8907-0b97d14dbaa0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b309e62b-8e3b-47c0-bca5-7af8c34f4cc5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc7def71-2ce2-47c8-aea2-dc91d9d62f44 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3f084d37-4f98-4b71-8a79-edfeb885763d phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ad7e7f64-a76a-41b4-aef8-253dd679af3a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:efc4c403-693f-4c7c-9dae-2469f73e32c3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:07b2844f-28a5-4427-9240-e9f811aba67c phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:48e37c0e-76e2-468a-a6d5-92efac4f8b76 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:222ebffb-8368-41ba-bd29-bb91b84913aa phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1e184ec-1644-4db5-88a4-26315a19d333 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2bb5821e-f3c6-4ce4-997f-2689bad14793 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b66e6769-9897-4680-8947-62f8606929e1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e1b34941-ebe2-44bc-8f14-60dae77e7395 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1c581f0e-ce5c-4977-a76d-60a2f3abc95c phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e07398d4-91b5-4ea2-8a75-dc19094f8b33 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4a59cfab-775b-4656-bcbc-e15a1c399540 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d2883d51-ec70-47d5-898e-6795ac01e435 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:14f958f3-b36b-403e-9b36-e00960d4e679 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4947e2d8-0d18-4959-b7cd-5601b7ad0192 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c836142-5908-4df0-af5c-ce518a32dc63 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:957bd53f-0f98-4f86-b1ac-7a71ad1bbca5 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9de4df9c-6e54-41d1-b519-1dc63dc36091 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5cd8c811-2a77-4199-bfb7-b9dd11e5c2c8 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fb3c7328-fb94-4e87-bf92-9580feee10b3 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3dcfbb0f-409b-4d4c-9ae3-5d13052a5ff3 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:671e02aa-2fd4-46d0-a4c9-5806ff202b1a phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a5f2a04f-02da-4851-bd79-e04f69da95c0 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:21f23807-2cc6-4bbf-a73c-472661b3070c phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cbaecdb1-a9b8-474e-81c1-b9b446f75da0 phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7ebccafc-a88e-4f3e-8a4b-25568ee79323 phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:af1f8a2c-c7e1-42b3-b015-c00ea8c3546d phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:678417cc-0844-4642-af26-d44906a4247a phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c5818e6d-3cbb-4546-aac6-49bd7eef016f phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:30abaf3a-7361-4c1e-802f-95b1c45e9a78 phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:177ccc4b-b097-4ee9-9fbf-d79b16961e58 phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:649fc34e-8eb0-4832-bea3-e99be07c9001 phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8e62fe15-008a-48b7-81cb-49a7ff106b57 phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a526f5a7-c428-4e3e-84a3-96eeed593c60 phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:27a29049-37e8-4823-a85f-ffdf4165f1ca phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:a4bd8f1d-e861-4fe9-b9aa-2cdf79a3bbdc phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:843a7c36-0636-4d10-a43c-939ad6e2b29d phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fac4e0be-3c0f-4132-8edf-bcff6b15b742 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2df0d5e4-defc-476f-8806-54f542bb2e8b phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5744fd2a-3c4e-4f34-b043-91d4302c83cb phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:48b2454d-5749-44dc-947e-75c9d5a51e04 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7df432bc-75fd-4012-a375-172bb735aca4 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:733ee431-7c32-4c17-9124-64b1bceabd4d phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:009bc249-58e2-4eb3-8ea0-260f5af49ec7 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aafb206b-23a5-49c3-b175-54389cf06f3e phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f6c48f45-de5b-4eed-bf82-787158143884 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:23884512-7f91-4a8e-b8ee-199786458579 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f6a765a-2d26-4d29-a655-f94753fe7be7 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bf443a5d-6347-48cb-b5bb-b6c3eed786f9 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:713da997-92e6-472d-9bcb-11844695b2c0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6f9a9c4-a1eb-4bcb-8de7-f7d6a5aa8077 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c3648b69-4211-4ed7-a5b6-7e9b58b8635b phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5b1a8ba3-4a50-42a2-8ff0-a44ddd7b802d phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91da4190-01bd-4275-96bc-ae3e2a768d3c phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7e2fbf3-e595-4e89-98c8-5869b86b545d phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9dfaa3c9-a8aa-423a-af2b-e920dc79bff9 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0009592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c970576-9adc-4bbf-a8fc-0bf4c193cd4b phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e5242883-e88c-45fe-89aa-5c0006548db1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:08c7e8f9-0126-4179-809b-9ef0bbf77ef5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0010795 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6cfc64c3-189a-476a-92d9-39ae548eb7f0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ee18a74-0d56-48e6-a1ea-4372f75cf7a1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ccb07435-37e4-459e-8c34-76dbfa26d3c4 phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:69d862d2-24ef-42eb-8dca-37426fa23af7 phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:41688400-1557-479f-a40a-295d031b7f33 phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:249a5531-1548-4a53-865a-e33a17429b7a phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:4451cb7a-4ecb-4773-a54f-927e80d012b1 phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f8e33b9b-209a-4147-a9b3-0732e843fe3a phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:be5ec670-27e5-4708-b713-82de3c998e75 phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:4147142b-b19e-43f0-98a5-1016afab98e2 phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:1a09a046-ca1b-4b0c-bc13-77a4b89a34f0 phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:537e5623-eba4-4255-8bcb-049416cd3d19 phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:6d10c9a8-c1c9-403c-9fe0-743ecb6cb602 phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:35bc1704-1fd1-4eea-960e-cb909f3c56fe phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:bde4f00b-6d55-47c1-bc4d-83823132c775 phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:813c144c-73ca-4606-9df5-e56cd72c3198 phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:bf806937-e505-48b6-913d-1accd18dc977 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b2adf114-bbb8-45d0-a065-ef0073ec1c8c phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:feb4a8bd-3696-4bfe-9eef-d074684f751f phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0e52e2b4-7bdf-4721-b603-b0b81370cf03 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c6f0f150-c38c-4c12-960f-e9231fa81771 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:473503b2-3521-49a9-b8c4-55e353de3edc phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:74df2eab-0bb9-4fba-a8fd-e8783ca865ba phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:35bcff7b-31c3-4587-a0a9-e986b4797e9c phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6a1f10f3-a536-4ac2-bc9f-7ae8ebaa6a2e phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf1297ae-7f9c-42ca-88f8-b501278c6619 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:64b4db95-d580-4737-bef3-55e712f6be9a phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e66e8e9d-5e9b-4a13-92d7-a6c90ccaa14e phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0b3fedf3-a43f-4784-b42e-d45b78b22f15 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:22a64c99-d3f7-43c9-b638-f0e82f90160b phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6f69bb50-6d3c-4165-8247-6026f34e578e phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:849de40b-4df2-4f21-b64e-3b0fcc94b5a8 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:db63fa65-a902-4aaa-9ea5-b1533f97131e phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:21081198-df17-4577-9e7b-66adda7f6456 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d82392e0-3330-4fac-9f75-f8cb6f011471 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c4a6b811-7d27-4eae-8eb7-4bd3617f49c0 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3ce84382-6f5f-45ca-88a8-ab3b5cef4e2c phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ac81a444-8aa3-464c-a201-4b819d8d2b58 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:813d630d-7bda-40a5-9bd6-da4c7a55de26 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8b94e15d-0476-45a3-9003-a7db5b9c8da0 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:67e6d60d-a098-4d7b-88d7-b6510fda02d5 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66a8d281-eaab-4463-9f4c-249fe84e61ac phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3e40857b-7eff-438b-9173-a28eac42794b phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c0d281f-3996-4ab5-a5d8-c824c908956f phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77f51093-2189-4fad-96c9-091d45b28c76 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b04f7995-71e2-4065-850d-5f3f8809fbed phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ec4f165-5061-48e7-9fbc-db00efe6b3e7 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3cf8be85-a1a3-41f4-befe-cadce2920fcc phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e6fa89f6-7672-4ae6-90b4-f248b5e2d265 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0b98ab7c-3e3a-4244-8d9f-6d7282d90749 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:49023515-e51a-4304-95bd-231851a404bc phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bfc48048-697c-4bd9-8f70-8aff61110604 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68199e1a-8cc2-42f5-bdc7-5938ba39f794 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee2230b7-6cc0-45e4-8e4f-5828748fa071 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c929a57-8f6b-428b-aca2-d1c34e02c9c4 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:595f5a5a-fa73-484e-b202-500b49628f22 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a49522c5-458f-40d1-be52-aaea6d8754d5 phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:93e76b2a-454c-413a-b6d2-41f17f65c628 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e1761522-01b4-401c-bc77-a525632412af phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9d065aed-c1f2-46dd-9eaa-e36800b9eef2 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a75ec9cd-a595-4195-a606-5b51818cd666 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf910048-9c80-4f56-b84c-cf43754433df phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b9b3d1e1-8b83-4fad-a8fe-c9496cdf58d0 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:666b572f-d20b-46f1-95e5-45bc5508ea30 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b339faba-c8e5-4cf0-a2ea-d987dcc8321c phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b3962b40-af94-46de-9ee8-52ace47e2fc3 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3626634e-6db9-4367-9c34-97bf23e34c9c phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6ed3ff4c-7ebe-49e8-a443-aaff2564edd9 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:27f2cddc-286a-4c7c-a743-f3f5bd56235f phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb6359e6-8351-4dc8-aa4f-66ada36b051c phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7c51f398-848b-42f4-b691-25ef3611ebe9 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6347acf2-fa67-4e69-b36c-53c99b77dd18 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4dd06f44-55d8-4c2a-9e4c-e7fc328e6d81 phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:01a06680-aa2d-42b4-b4cc-e344ff474697 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:7edfd9d4-768b-40fc-82e6-a89c405fe7a9 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:959a4811-a490-4176-ba5d-a2e7569b320e phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:e99a8b27-85f9-488c-bb33-d2f0079eb327 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:db9b9ce9-72e0-4792-8746-3c86f1df4ff9 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:476fe621-e4e1-4b30-8cb1-c003c7bf92e8 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:b7e208a1-4814-42a3-8505-1eb658efb0b1 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:22fd3824-fd20-465b-938c-79a1b837a363 phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:999216cd-9a5d-46b4-bce4-afd66f13d590 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cd2b0f80-8e42-4510-b193-8bea4d545b6c phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:415b5c35-567e-4497-8149-89528cd3987e phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8bf02200-fa9c-4058-835a-8c316ae8cb02 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b5de703a-fef2-4b0c-b02d-db692d7ce961 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:82d003b4-e9e8-46aa-a177-c22f307a4cd8 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b1b9fe01-cd3b-4465-80b7-d00d41add82d phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ad6e1b28-cadd-4049-8641-8766fb8704e6 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bac0aed8-03ed-4ddf-8b59-3b3e07558312 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a1e706ad-32dc-436d-99d0-8cbdf8c4c2f8 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b719e7aa-35b4-412b-9185-2d4f44c85758 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fbe861d6-c380-428d-8b10-672bf205835e phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c4b0e023-17d1-4929-b721-43f0076f7f53 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:acd355a3-f03d-4497-bdd1-157c89f0b83d phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:344d7383-e575-4d36-b78d-dfbd9a730f30 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:24fe8c19-b540-4d23-bc27-475ac9357638 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6c6ec623-31a9-47ab-8166-0dbe7c9c6dc0 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7395088c-ca4d-48cd-aca3-85b4260d1a32 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f6405897-e4f4-44cb-b963-b53ebee1d8e9 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:706a078c-1e7e-4569-ab47-912a4f01af4b phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:480bfb16-5c5e-4882-8440-a6be16105b18 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6b8ebeb-48d4-43b5-8d2c-63f3c494984c phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dde736bc-9014-41a0-8072-eefb5da5f1af phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c198e6ed-76e0-4649-9a94-8aded0aa6dd6 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:acd56de0-4d75-4e9e-929b-336ccdaa05ec phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9695b5db-4750-4a97-949e-d79fb172b526 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8e50830d-036f-452a-bff4-aed2c404dec4 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c8111d09-0a42-407d-9627-62cbf343e7aa phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6ad027e6-7ad8-4824-b833-73e9bce86df5 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:678934e2-7960-4851-9bae-37e0285e59d1 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:25de4a84-fa53-4e99-8478-0e3da8ced3af phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0921c4db-b300-4d93-8e90-ac3f370ab146 phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9d2aa39f-988d-41f1-ba95-6308aae2ae9f phenopacket.store:NF1.PMID_29290338_Family_UAB_R9962__individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f943077b-7501-4483-b9a6-b3a56a3089c3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9962__individual_RS_mother_neg_father_not_available biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:98a1decf-4eb0-4cac-a2af-f0e4e8cc216c phenopacket.store:NF1.PMID_29290338_Family_UAB_R9962__individual_RS_mother_neg_father_not_available biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:07cc7088-4689-4115-bba7-3250085cca0d phenopacket.store:NF1.PMID_29290338_Family_UAB_R9962__individual_RS_mother_neg_father_not_available biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0a408146-ed58-4057-b1cf-6e2d487a2bc3 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:ad5254e9-a70f-4ed1-8c85-211a7952255d phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:0274a53f-44f4-4a47-a3ea-1b8e0707c82c phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:e1d1e35e-0e6d-43e5-94e1-e02acad58b06 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:97f74d29-7002-47d6-b62f-cc1b6dcbf5d0 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:14f29913-31eb-4312-a842-49a702f0f128 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:31b629e1-1c52-446b-9175-b0706708a54b phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:28a17dec-c7f5-4c1c-9d8e-437605dae2b1 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:60ea4c3f-d7b7-4648-9ee5-ca97b375b6aa phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:627a1dbc-fa20-44e4-b9f3-11d012ff271c phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:73a1f54b-5393-4b77-bdca-3aa2cd81fb2a phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:07edac90-e70c-4003-974b-c2e326917682 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:24cb3aa3-05bc-41ee-afaa-f35cf75457fd phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d45ca320-dc06-4bc8-8325-5c34990dc0b5 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:455e31f0-c4c2-4e9e-8814-29ba005bd7bb phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:7dc82621-b5f7-4b6e-b4c0-5f0abb0a6263 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:97705d43-bfc0-4e27-8d54-b96d5b264fb8 phenopacket.store:NF1.PMID_38596211_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:31952138-c678-4c55-a244-479995a92431 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:080c68f1-ca9f-491b-84a5-e4d77951c20f phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:71aceea7-f5b1-4410-ab4d-7ed7740c116f phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:59df4c39-24b0-40c9-8697-bee727a42770 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a9166707-7144-4b34-b30d-4580841c0b00 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:be9f01f9-5a79-4688-bcca-542b1a1d045c phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9475c943-d2e9-4cdd-93ef-dabfafe22400 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a1e3b2c-5fcd-4476-b25b-71ae0de79a15 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2971c209-eb4c-4975-a1a3-588ad36a8018 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ef3f265-0c96-4d07-8d15-c185240b7a3c phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e34395bb-f8f1-411e-8382-694c8dda1a0a phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:05228323-aa58-432f-ae55-808e72fc2ab6 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7c2a2ee2-0568-4bc1-9572-141f236b133a phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9875598e-05fa-436e-9fb1-7968e1f25a75 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a36c2287-10c5-4022-a1c0-cac6b78f17c5 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fcb2170c-4563-45ea-928a-a2ba325b40c3 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:936adf35-64a6-48c9-914d-2b84722927d8 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1aab483d-95ca-4949-8350-8d2766d20142 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1389a826-57ec-4a1f-be69-5ac63b3c20ec phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1b750a7-4442-4c79-8d6a-66aa674b94a7 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:eb2d2de0-0695-4406-b341-f759959113c8 phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:63e8ac2c-8188-4a9d-9a97-fb08e0be46ff phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ca6b2c0a-abcd-4af0-835e-92a0cf820b5f phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:61cb65c7-2013-4b7c-a71a-43f85fb3577f phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2009cf01-4264-452c-859b-a2d1b16f30f5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b5852d4-09b3-4154-9fa9-701173cb7d89 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b8560b3b-6655-43af-9773-451476a618f7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:04eff15d-e6f9-407e-90ee-8a1acd74ab28 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d5dc5fa-5342-41c8-a517-ec03596da00b phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1105a2c9-222e-41c1-9cf6-0941fbb0f6be phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ebff61f9-e15e-49f6-8e83-597974301f77 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e9ab7156-fb03-42ce-bc9e-814f86bb14b2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:531efb3f-95d5-46bd-88d4-a2e4df2ac366 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6dee392f-d1bc-47ba-818c-c6eab95aca7a phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d51b11e5-6dd6-4891-ab3e-90b0b5d1b521 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c150b02-d467-48bc-93e2-1c2821fb4c2b phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a1742f0e-ab17-4b17-9938-47a36dbb51d4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2bf1a482-605d-4e2d-8e9e-2ba9eecf1f42 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89bb6675-1dfe-4341-aecb-197d39a61b0c phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1eeb9e8f-7435-4aeb-8bef-c60d64c77311 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:466493a8-38e1-4fdf-ba87-3b951fce4eb2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c646faf-01fa-4690-8892-e52413d3e606 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:65f644c7-81f7-461d-82ba-caad3ef940d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c41c58b-39d9-4f38-bbf3-ce9a25790d22 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d1ae285f-6a51-42c9-96cf-5d0671a645a3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0559400a-7dc1-4c36-a1ae-6e447475c32c phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:45971a36-877a-44b4-9235-c198337b3749 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a01b2771-f1ab-4aac-8a57-448cc1819d71 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fd56522-8eef-4239-bc84-2060039ddc96 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:773ec6c4-f796-4c79-85a4-a93e29608ca0 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c721f885-e36c-4c23-a630-d3621af3fb09 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f2b230b4-c57c-4a7e-a88c-cde926e474a3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:784a2545-effd-4d29-8106-acd3a5db5813 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e9ecf432-cd05-4084-9de1-beb60aad7f50 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cffb426-f980-45f4-9049-b3a757e4e6e3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:96cca8e4-cd9c-4d23-b1b9-3f42498f3107 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3f3b0ad8-9296-4245-bf0b-7b958f9b66d4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b27ade15-53f9-438e-932e-107d76e9a4cc phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac730cd2-4470-4c09-8976-7146a34560fc phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95b2148c-46e0-4ab2-8dea-c9ca22e26de0 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bdb67004-5479-4261-b150-9eb922cdc4be phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7e52c508-ef30-4190-b3d5-bab7660f9b53 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38ee4fcb-9eb2-497e-a4c9-9471342b98dc phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ba486a5b-4b9c-418e-954f-b671e41f279c phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:81e0d2c6-d08d-42f4-ba3b-f6e0fbace8a0 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c8c30362-8c91-4d73-9886-9e33b592bdb5 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3443b060-e6c3-4fa4-b775-28136a652c8b phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2cb1cf46-713f-4c76-9f50-e0b4900dfef9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d37e995-4a8b-4885-8e33-886f1c82fb0c phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4dc6874e-a06a-4c96-b4d3-0b09e1254283 phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:985f1eaa-d934-4a1a-b13f-b67de3b81895 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:41b6f14d-c890-4d5c-b46c-7b0b8bc29516 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f079c0cd-0c01-4b5d-9d31-45edd7d066a2 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5b289c8b-a3c8-4b4d-ab4d-fb97dad29ccd phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1964b526-eb0b-45e9-86e0-2175514f54d7 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63ec54ea-01f9-4e29-adfc-af594f5bf2e0 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3db1c35e-2ce1-4dde-add5-aadde280472c phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a49b74b-6f8c-4262-a7f4-2e42f416295a phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5b151251-a7df-49c8-85fa-f950c0d3b448 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bbf0b75e-c570-4321-ada8-177d9d6f86d4 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:325a4419-ebdc-49e6-a155-a89bf5542d81 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70a0e51f-adf1-40de-8117-aedb2c0214a6 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ad01cfdf-521e-4320-86f0-86ffece972e8 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:39a9c437-9110-4ae8-b0f6-315ad9fb55f9 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce4e094f-82b6-4ef7-abb6-4e407399f617 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:405f6d10-5cf8-4e8f-8ded-e87f12c6b0e8 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1b56a49f-8462-42cc-a029-4f53770b9057 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7819c1f7-74c5-4f5a-9238-9a2e979d39e6 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38c8dbf5-a383-4e35-b7eb-11c62e122c30 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4082eafd-b216-44f8-a658-28edbfb1383d phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fe8555c-9b0e-45f6-9385-887d3f57dd7d phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d6ae686-cb64-46dd-b8c2-39e923e591c1 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dfa20851-608b-4312-91e2-634981de2f80 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b4aa3465-92a5-4e6d-819e-59cd7de57870 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e0b9daa2-77a4-4bbd-9583-24add5eb3218 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:9a1421e0-321a-4eec-b8fa-7287f99f1a28 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:44cbecf2-c54f-42af-a442-42d59cb65021 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b5453134-915e-4ee9-a119-0633e0c4d9bf phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66aabe80-2fc2-4fdd-a416-ed9d7b8f31b5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:22b8f11e-6354-464a-926f-52897259eb2b phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1be58b84-72aa-4cd4-9f0f-e079a3187607 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:36f919d6-82f4-4f15-87a9-78346edbfdf4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f3d89d46-03eb-4b7c-bf57-59697a59a958 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9dd90b78-c235-4c77-976a-1031d81aeaa2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a7635d11-11f1-46f3-b8c5-10765e980360 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ba309b0-0dd1-4333-9516-e0e5fc8a31d8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c8bfff0-720c-4878-a860-e6c8d7df1bf1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dee2973a-be99-42fc-b957-32612106f8c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9b1558f6-03cf-4203-aec5-ea16fd648a65 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5a2e07ea-0973-4a20-8884-85f51cf6437f phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d1150bac-c25f-4f2d-bb7e-95cbde28acee phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4bd7fadf-da1d-4aef-ae2d-f22d63c361f2 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4f0c6ed5-2dd4-4258-90bb-12c308f5207c phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4a0f1c54-f584-4832-9066-7a9bde76a15e phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b3f14e45-e062-41e5-b294-5d2aeea75725 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0e2915b7-5a88-492d-a9a4-52b9a4ad7900 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:741761f6-f2a4-4505-91c3-22df3771b2ab phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:432e4f26-cc05-4939-8ebe-bbc07aa4419c phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e30a1af2-a769-4144-809b-fe1aa9eba86c phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:293e45d1-46e0-4f42-85ef-2975801ab01b phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:00caea51-1afd-479a-8b74-33dcbcb0add4 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d07524f4-b542-438c-a2c8-ab5e4843a833 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf812206-74f0-49b9-acde-8001792c969c phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:24482c38-5ad3-4034-a7af-39fc789e3ac2 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d8d106a4-1433-4032-86d9-46dc7176d4cc phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f6a23f0e-e835-4f83-bf6f-8bf59723b0c4 phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f32e9c51-fc0d-47f8-8f6c-68340250ad7a phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:c7698300-1eef-4326-944a-bd30704c7829 phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:de95454a-7c9c-4603-bcf0-7bffeec7366f phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:77c7acba-b4a3-49cd-a900-415dc3b1dd3d phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:51c72872-11db-4386-99d3-be8e202cc9bb phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:0144a3a6-193f-4843-9d7d-ce44974957c3 phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:90bc8c82-e361-48e3-a585-1ea8861f3ae9 phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:0044175a-d297-4f26-b90b-d996494a5627 phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:608f643f-e0b6-4850-9dfa-563e79d42faa phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:eed2b56d-77d5-49a9-ad18-45f4b88be1a3 phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:cae2e36e-ce9a-4095-8d07-767c2e1562d4 phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:f7789c40-f6ed-49a7-9253-4c866ece333e phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8664912 uuid:74af239a-2b14-4e28-af70-fcc8a01371ce phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8664912 uuid:59be4fdd-e2a6-40ce-a4ae-16dcf84a8bff phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:48c02dc4-da7b-4190-a0ed-6efc996a1639 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cfadf960-fc60-4f46-a43f-2431312904ed phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3a9cbb57-11b0-4f8a-8e3a-0f7f770a1aab phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cd408a49-ba10-4105-b8d3-a577b071ea59 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a12c8b64-1c1e-4d50-864c-80476bda947c phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4211ba30-6be4-4fcb-aee2-e396541153f0 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7f9f9ff0-58f3-4431-9947-fd8b4e149544 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:18cd8791-9f40-4b1f-a291-08fb9003d6e5 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:267a99bf-106a-4601-9c54-8ed769362aa6 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0ab9fbbb-4e4b-42d3-bbdf-e70c5ca7e12d phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:af68a014-e78d-48bd-9100-43ce2590ce17 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2dd865bb-a71f-40d1-baa6-71c77c15659f phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bbcedb99-6b27-42d7-9d1f-360b47a35869 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cfef780f-7892-4f98-8f40-05e7e8173b02 phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9faa7ab1-5f33-4750-b8bc-943a0c4a973a phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:587b2939-8c56-4e55-bf83-1b2499fbde96 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:77170d8c-e15d-4c5d-9125-ea2aa1aa6a5f phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dd9453ef-a27b-4b35-a3fa-97539595c523 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4969795e-3782-4941-b643-e75e4e4d78b7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a401465a-bb3b-4505-9b59-6fdd2efa5e72 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:582a4c99-f6e8-4beb-ba2c-35967587675f phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c48484b7-6790-4602-9fed-b19e68a20360 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02e9d11b-9081-428e-bc6b-b0399f02fe53 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b37a34b6-a5a3-4301-8942-11c5b5ce89e1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b66eaec3-1759-4036-b1cd-f0e9626f81ca phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a8f1e30-97a6-408c-8d8e-1379f9678ccf phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4d5fd23-ca56-4005-a653-9506785912b1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8067d1c-92bc-4ade-a94d-c2ada21c2016 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e6b7b15-d04b-4b78-9eed-c5a750e0b0db phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:966068c3-c8b6-4cfe-a886-23898dbb651b phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:57b46e97-96eb-4036-b280-e36507befb80 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a41f2099-bea3-4cd3-8d74-1bb8f52b8c81 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ae6b8a09-1c68-4085-bdcd-dd0ff60fe868 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55312f4b-7f9f-4f36-9f12-458a1434c41f phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2a10bc1d-4a59-4cf7-8058-ee5890c89aac phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e0e66206-83db-4c9b-a118-0255cc02329a phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:963fb0e8-8552-41d9-88b9-274b02c715ab phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4b4b577d-69a4-4676-be92-27d1df6f4ade phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:be7cd448-ae28-4bce-bd0b-924f479bb31d phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:2a64725e-c59d-4e66-8a88-7b3fd7aa09e6 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7eefc954-cac6-433a-b958-d85a612c8604 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:49da829e-ca3e-4147-892c-690bbb73e419 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:379fe7b9-a70e-48d7-9beb-f7dcc693f56d phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:e91062ac-1f05-456b-be66-6ea05d1d2f74 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b8b6564d-8478-48f0-9a09-b5837f9b57e6 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b96747b6-da2d-4e13-98cf-05b4c2af0c88 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:805fa0a5-ed45-4810-a6b6-a86ac3360177 phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:e1674d93-e178-4cf3-8d0c-f6c77b06b99e phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:20a98a7c-2141-4dbd-907b-759d679a17ef phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:22790e9c-2b88-440e-b661-06d097eae865 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c7b4a107-7ab3-4af6-b73f-cc126c875e08 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:3dcaad6b-97a2-4362-9d7a-f0440643d3a2 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d4e7f682-2947-4198-9f89-8dc88f564945 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:33f9cbb1-314e-422c-ac18-67170c61d61b phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e5dff815-2627-4498-b228-50149b00e976 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a44395f0-39bb-4f6f-b30d-924d44d5675e phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dcc6765e-f694-4350-b494-b9e178880550 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:670169ce-608e-424e-9adb-d2c744b5a0e6 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7577d8eb-4807-4ca9-ac8e-6c03b4222734 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7139f955-929b-45ef-b2db-53fb152ef051 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8b5b7db-2ff7-4921-85c2-6275ad1b7f61 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5c772c65-ff61-42ce-8b06-c75264828d78 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a532b12f-36a3-4324-86e4-ffc4364328d9 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d55a97c7-646c-4ea8-a364-92667cf2e7d2 phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:85ee1bbe-c25b-4790-9b6b-be3e8e5508a1 phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:ae813546-a5ac-4d5d-abdc-e3e82ee9c0fc phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:3e34699d-4428-4e9c-8e00-2e82f3c859ca phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:81f8b83c-47ff-4678-a67a-f5c9fbbf29c0 phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:be4f3819-61ea-432e-b744-bb816cfefc9b phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:391f23d3-fe40-4c15-8ee8-4c3afe560e8e phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:7f0d4da7-35c6-4d2d-879f-9af1771d22db phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:2c2d93d8-2013-4c70-a986-e661a01fc4e2 phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:bd01bf57-02b0-486e-a450-89ec61ea8a55 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:20b87425-e79b-40a4-bc2b-c812cfb3e361 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d1aa3ba6-0b64-4e81-9fc9-509770d02d3e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d503f035-3a0f-48b0-83be-66f6390868e4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:52a36950-e50f-481a-8fd8-d18fe4e3af03 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d12209f-3002-474e-a288-8226cf3468b4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:15f67a6f-356f-41e0-9cd4-775468296fb0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3165ccfd-48b0-40ce-a816-ae83dad1a60c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b0339829-9dfa-46a6-87c5-f3ae4afe39aa phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ff7735b0-ba0b-4e67-9494-159bd7dd6535 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7711011d-d7f6-4de9-9e23-3763be3928d8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9dcbd5e3-6be5-43cc-ad10-6f393abc2ed6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7b523d7-7d4a-4b97-bc60-17002f88660a phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d42682d9-4f43-4f5f-b790-1f58ed129a78 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8bdbe4fc-4d20-422b-a8d5-2bbdcf622b7f phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2c366dd0-2d0f-4dfd-b12c-836763678bfe phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5b1ce890-7641-4576-aa8f-a5afbc969cbf phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b7e2798f-0ed5-405b-be60-841bda7ec4ba phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2748aa58-0f88-4660-b0ea-edb02a3faac7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66447bf2-d4f5-4967-9230-5594aa95726f phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:773f99da-07b4-4a94-8f3d-35d8b79a64c3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:efb39896-6aef-47c5-95fe-8952b62ef8d2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec779484-6e88-407d-b9f5-50334819318c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ff978058-aa92-4035-9b3b-8d631b2599a4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:47acc77a-9b32-4cd2-a33d-075d0ed844d4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:05a424e2-6141-49be-acb2-152f01188e51 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f1326eff-eb2c-4b62-badd-b759c0b26b12 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e391fee4-7cc7-4480-90c4-dd2a46b1d443 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:13c059cb-2ba7-4d29-a51e-c96e5ee9b83e phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1a32e010-49b9-4b5c-9f3f-8ce5931780a3 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:01d0c78f-8d21-48f5-914a-8592570a9105 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:367a146d-ff49-44c1-8bb9-00afaf9c7f04 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9a3b34b2-cd2a-4ab4-83ce-0a5d801fd2cf phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1a4fc01f-7b93-45eb-ad99-fb98852afed8 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1d88038b-c19e-454a-9af3-8f7124db4403 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5b0c254d-5430-43a1-b019-72a1b075b6a0 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ae73ae15-2641-4da0-a78b-371551ffadab phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:230a610a-dfcc-44a9-9ce9-8af93dab218b phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:2b0d7e97-e17e-417e-a0f7-a78b7a17b3f3 phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:8611ee15-cce1-4780-81b0-c40ad48e1748 phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4b8aeecc-7215-4b1a-aa0f-7a5c89b41446 phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:990c797a-ba8a-47b6-a543-0208f892e54f phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2e12f36b-ba58-4d0b-8529-c51b0d039948 phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d92f1823-4b73-49fa-a674-17ae29f2ae09 phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e0cc0b16-9aa6-4da1-86b6-70a00e33066b phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5dcbb386-a4de-48f1-9e3e-a6444a12e94b phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:41084577-0cdf-431c-8d9a-fc6dfff9498f phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a3ec0476-ef4f-4931-80ce-7b3f287eb254 phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8280ff67-2831-4121-8fb9-890814b98788 phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:290b1c66-8deb-49c0-8389-29d90350d94a phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5da0585b-5614-4635-b04c-d443877e015b phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:d55373b1-3c0c-404d-8087-9091bd9f71ec phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1935c6ea-1d1b-4c7f-bb57-845ca02c0a1a phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c5532b66-75ed-4202-9411-da3682833f83 phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1980e9c8-c323-4073-8648-936dc4dbe6be phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:831dc45f-823d-49d3-a1a6-d88761a9d433 phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c6bdd998-f939-459d-8504-8f784360c3ac phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:070d035e-76aa-4608-a482-543129b6c613 phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d9310411-2d7c-4d4b-b74b-a3cbc5228bb1 phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:c9ce3f28-747b-44f5-adc3-da39433075ae phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:91aeeb3e-bc4a-4fc5-92eb-e7255c953883 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:fc8f0cb0-ae2c-4d6f-b367-f4c88bbce7e7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:77fe9b5c-1bad-4608-8dc7-8e535c817ebd phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9fac0b10-a6f0-4f29-8fae-ca36b931a2c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f6af233-2356-4822-aaca-30d2975577db phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f86ca5a0-2dec-42b0-8325-5195ca4622ea phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e551be11-6bfd-410c-bdd7-ef2b5c03b228 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8cad89ab-4bc5-40af-a05e-10b8ea997bba phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2b08f828-7895-4218-9628-a26497ddd048 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bf27ba78-786d-4fc1-bf65-764d13e9c541 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:33a7ffb4-9b62-473f-ae24-973d54ce1789 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:25bab8c1-9f60-4d04-bae7-0b46b0954958 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d8d4010b-f7b1-4512-b2cd-75420590dd92 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77a645bc-cd76-4ba8-80e8-3b68e3f68283 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6cb88e4d-6c17-4a77-b051-5dd2937b7ee0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7abe8c11-677f-45ed-98a0-83fd600dfa32 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4af8f1f6-73a4-4c97-8972-f0c938bce1fe phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6e3c2cd5-1091-44a4-b887-f84089361c97 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69b84c56-0157-48a2-a14b-bc4b0d87dbc1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b46f0fc2-1e28-409a-a225-aaa9e6a734d5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c65377e6-26c5-44de-819e-018d900a59e1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a881e140-d013-4fdc-93e5-49cdd904b6db phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77076f89-1721-4999-9d86-57da87b1e5bd phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:41e2eded-760a-4a06-9a36-78a26566743c phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c0706bfe-32e6-48e2-b7a1-f3961b8f33cd phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e2064173-9201-41ed-8750-d30e6b729e81 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dcc01751-8d82-4499-b100-bd19c876471e phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0e28d995-9dfe-4c33-b603-8e338c1ee33e phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:484181bc-612b-468f-94e0-6eb84360ced2 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a64d8fbf-3a34-4922-aeeb-6ae42da2f556 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:60569282-bcd0-4053-9885-c0067ca4382b phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cbfa6b3-5f5d-47b2-8dbe-2a60306ee8fc phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5baecd2d-4976-4b7f-8a44-4201e27045a0 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d57207ec-50fe-49cc-aaef-332947f31048 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cb66e61e-3e28-4812-b147-0141f52f6197 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8392a237-e2d7-4444-b938-825e4d35d607 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:794e8799-3687-4cfb-950a-dcdd9c529c7f phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d5cdc2f-5de8-4200-ba01-2b14827d598e phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1e3f785e-8cdb-4fe5-ad88-4eaf57b4f8b5 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ad07791-9060-46ad-99b3-a2c5283950a0 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bf168e21-4bd4-423a-8a25-de8566b61f20 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64490274-2606-4c68-8f53-cd8a38e8d6d6 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa13db65-4ab9-417e-916d-230906a8f9a5 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ee9cc44-6f19-4e55-9510-ff27b4b36f68 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3463ecf2-a38c-4dcf-996b-8680d156777e phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:81dbb80b-dd45-4076-b27c-3940a7c1b515 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:745c5641-a3ac-4b9d-9532-5283981919ed phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ed2de6eb-4421-4e72-b8b3-3a5647be0f70 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f403ae63-75b0-49f0-95bb-2711eab65de8 phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:47791b3b-b591-4270-9b39-879e5f39cd05 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c364d334-3cb8-4373-8128-bd74e16da795 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a6795a61-5d3d-435d-8761-f8f8d16bb34d phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0b6bfcf6-15a4-44f3-bd70-116ccd201658 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e1a8586c-31ba-4916-bd1f-31c02f49dcd1 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:65167f24-6c6f-4a58-9dae-fbbc5fe701eb phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a3966901-9d80-4243-b09b-06edcb3c1acf phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:90566dee-55c9-44e4-8e69-db74116670ba phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b9eef4df-37a5-4c78-bf40-d9559d384095 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:154b5810-031f-4612-b302-608cb2ae6169 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:45bf716b-335b-4bfd-b0e8-2756421b76c8 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e4713d27-9950-45ce-8081-fe8d92c1f43d phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e968d538-2418-4cf7-80be-a452d43425e4 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:90c1d245-0028-4338-b0df-894adb31f88b phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a1a56399-0036-41e8-8169-65c4b99bb77d phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e5bb66a-b457-4d44-b640-d84489ab83b1 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:dee2e6f4-ba77-458e-b21e-c2eb659d5473 phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:14ef38fb-8599-4261-9b19-77f80e14be82 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cdd38d9a-b575-4894-b06f-3865a6de6fc8 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5486f9f0-050a-4e40-b24c-f8911f92b1cb phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6aeaec54-d402-4595-8a18-3061a7902826 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6847abcf-3709-4fa2-9f42-d1baf4552349 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:21cd1ec6-37c5-4070-8296-cc23881b6c2a phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7649b475-849e-4d94-89a7-0ed71261e845 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8ac6e144-9130-43c8-8ca0-f8924769d074 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:caacef99-c30e-4a45-805a-63f5f65eb209 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:93391a79-5d21-4cb8-824b-ca410e0c7b5d phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6136ec94-5b3b-4dba-acb5-b18a43fb751a phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:20223c06-660f-479f-8d3f-db9cc5368e79 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:2d50b07a-d34b-4c26-85f2-a1caa5bc0be1 phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:26adc031-121d-4e37-8c08-377c038894ce phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:69d69139-5e19-4993-a96f-402d1d339ec9 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:02193db8-961a-49a9-9604-afe6ad5b17cb phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a415ee0-a9e8-4b1d-a54f-35a35d482122 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a504004-1088-4cf5-9576-a0f13f1d9239 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fef6fe46-019f-4410-8678-15ee8693326c phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:54d6d142-55d7-45f3-99ee-8486de040dd8 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6835043d-c9bf-420a-b918-b082e4cea426 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:354f5c9c-078b-45bd-8719-553cadeb28a7 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ed414463-4745-430c-b609-e2497367eeba phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c4b01bf7-1ecd-474d-abd2-248388e8781f phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:909f8a61-ddd7-4c9d-80b5-4019539e55dc phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:885d964a-f9c1-47d7-99b1-f8a9cdf8cd1e phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:92f7ca92-468c-4284-93fc-3942b039768f phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:50021bdf-64bf-4c5f-b60a-864f88648b47 phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:edd63b4f-4bf8-448c-b751-71944800fc39 phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:24c2ac7b-8273-49cb-aca3-132a59cf8b22 phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:54a14ec8-d6a4-440a-810d-52ed537f4b98 phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:a5a2e321-8d66-474e-98b1-014539480294 phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:2f89b96c-efe9-4ea6-b14d-1e67345882ac phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:ded3c3a9-a81c-4587-93d8-ddc03c35e8bc phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:929ab574-8a09-4929-b800-f13d0bb235d6 phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6904a2be-3430-49e6-82fe-7457aeafecc5 phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:6045bc19-f3b4-4dcb-9f5d-c4b8f2437284 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:11de6299-e14d-4f61-86a8-615a4cdee057 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a684e29f-07d7-4f98-aed8-010956886e9b phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:183282ac-2769-4cb3-8f61-53748d55fd83 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:51dbae28-d814-472b-b121-be0dd2e3d2e8 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5e37bd45-2ae6-4863-b303-db70d6cad598 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9ed3d636-c2f1-451b-acb4-a55ef3cccfab phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:363a0641-f0ad-4ada-87bd-d87fe5250f5a phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:edb51be9-2a6d-45c6-975e-997b150ebc1f phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3c12935b-a02e-4e8a-b0ee-372c90eee061 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e45c8d75-847e-4a95-8dac-eb3c3afc5a28 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:28135f1a-99d3-438a-a39f-9c8e9fda4605 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b688db5-4cd6-4f55-90c2-db128b324956 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bf0beb59-89b0-49e9-b42c-6f5cba05b99a phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:82b99fee-f74c-4e5c-8a04-dba44d88626a phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e5de0699-f9e7-43b4-b0e7-fef9a9031625 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a9f3062a-0c3b-4fe1-94b6-30c4553b3319 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9166dddd-1068-4609-ac03-a44829ef5eae phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:5df470c3-ddb9-4113-b39a-7a0e6d934341 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:080a5f9c-8461-4acd-857e-1233e566799a phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:5e0169b5-632e-4b46-a150-d8ec60fea6e3 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:668679ef-d1f5-4945-9bd7-7becfb4cc691 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:fbd06dbf-0002-4b41-9511-b5e43d9efb75 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:481c3602-f8be-48b3-a0dd-6b75d5253212 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:1f2c69a1-fe02-48f5-a9ab-e797381bf74c phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:8846b798-93c3-4a9c-8e1b-6e8c11874eb2 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:52fa9c1c-beac-4a49-9a40-90a215cb64b5 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:7a2f1b8f-d2b7-4962-82e4-41c61070b851 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9d7034d5-121c-4ed2-a85c-68b9718902c2 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9bd8baec-0091-436a-b9ca-def7f7658f09 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0010795 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:41aefb58-1504-4b94-89a7-2d6b69508800 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:ced6d8d0-4410-42b9-8abf-573087672789 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9b683ccb-5dbf-4879-af21-41e93236619e phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:a4f0e442-338f-4d22-853d-78f2ef43781a phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:f99aca5f-3d6f-4f31-9856-f211cc8d91d1 phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:ad75011f-ad26-4d31-b284-19cfaf354b9a phenopacket.store:NF1.PMID_38596211_individual_6 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:fe05c6b1-24d9-4256-84f9-e573a201fccc phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4a284f73-1a66-40ba-ad6b-714319108962 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f498080f-c62c-4e06-be6a-39bf24a0cba2 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:167a9745-57bb-4c7c-bbf5-87a262f003ff phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3802b943-8d7c-4308-b93f-f889bcb6c6d5 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b5dc0b6-a26a-4164-9739-28df33132b9f phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:69537916-05e8-490b-93f6-acfb646779a8 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:75b65712-6ad5-4c76-b55c-77d443fab1c1 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6bdfc782-29b3-4060-9b5c-03eedcdaab00 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2823a8a0-a836-49a8-9b60-868a8e075e7a phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b5d4b8db-396e-4b17-ae27-c9c2bd7abb4f phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3ff6b666-6911-4511-9e8c-692d0bfa8372 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7367ad85-47be-449a-9708-8403b29a79df phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c2f56dc9-6d65-4c57-a935-ad6b0d72bd04 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0009592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dd8c2435-8179-45b2-a510-4dbfc4f84840 phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3a89b11f-7f00-4d6a-a727-cc81daa885ab phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a22c1c0e-605a-4bbb-b3f0-5e7a8550675d phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e433755c-9bfa-447e-abac-dd6ec6a9be9e phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2ce72e9a-0134-4912-8d71-e626fdc17a2b phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:979a0c39-9bb4-47e9-998f-3849d2579449 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:12702356-f54c-4a50-be4f-c732269b7cec phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1d221833-cf93-470b-8410-3ee9e811f6ed phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:aaac14b1-e2e9-4b11-9aab-58a13bf4adcd phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a814e78f-9d47-498a-ac1b-f1e28014d95b phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d12665d9-cda1-445a-b862-003b67013f67 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8a958e8-99b5-4b06-acb9-eac5b2348855 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e4d1f5b-ecc4-4b62-b452-e9b7b051be6d phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b6971c4-f5e3-4b2c-8d11-dc3f99869678 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:40fbeec1-7e18-4d63-b140-8f2e94ae2e00 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4465c44e-f98a-446c-859a-54a0b80691a2 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c8d1ec5-5140-4184-9ff5-d466909f52b7 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e1de30d-2ce8-475c-b308-150e830c7336 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94e96aa1-d064-45b7-971b-b3db0ac0adc7 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9439450c-e73d-4f55-be84-a5ebd19bf74d phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fd355d51-84ba-4ef6-bac1-dff64ad0ba01 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d9f622d7-2272-4224-88dc-78d5ae80a916 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f29b6b1-f869-4b15-9ec2-b325ba919f9a phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc57dbaa-2485-4a9e-b7a8-d85dc4b58672 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:09b66746-6ced-4dfa-b25b-523623fd8f29 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a20270d8-c215-42c8-a233-2578f394c99d phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dd6e8446-f60e-4d53-9e91-8045a5fa383c phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:21a17d3c-68a7-48c8-847e-3ca68d40aa05 phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:538bf20e-5b1b-44e1-9e4d-fbafc4abb63d phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f1672cfb-679a-48d4-aed3-1bc363efe3e7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:afd7addb-34d3-42ae-97d8-ac048faa0aa3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:57a3178c-576b-4329-a911-214cdabd0a05 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a7952589-dd0a-4612-a76e-2b95b768df8c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e50b5bb0-a9e8-4464-9c35-3279134d7124 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0f23d0b2-4229-4547-b5ae-492f7e1f1f58 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:433b4311-c63b-43a4-85c6-12e6840c4d0e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2338667f-a693-478f-be7f-52119dd5f81d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:332248fc-28ef-418e-85f8-732c2082b2cf phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d7a3232-c460-48a4-8be5-22b27cbb23ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8ce7a2e8-f4a6-43b9-a64c-0e03e7ef454c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b96de92f-0f99-40a7-99da-abacef8eb296 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab8a0687-5f38-40ff-bb41-33899d1798ce phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e6cf03b-436e-46a5-82cc-62f31dee5d13 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3ae6a3bb-640a-443c-b66d-754fed6955ba phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:099f8729-d1f8-4ea0-9ccc-b82ff9f14669 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ee8005b5-20f1-472a-a6bf-e6c61cb54f26 phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:98112fc9-6b8c-40cb-8afa-047f8de1c1d2 phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:b4eb7252-ec6d-4a3e-87bf-f2a2f1593db1 phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:2d0ceb6c-9819-4313-8753-44a271a4984f phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:afd9b503-4316-4270-af9b-2e94268bde29 phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:97df5c60-4644-4933-ab2a-e4d3b587696a phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:f1e5021c-fe27-49de-a136-11f28d03dc27 phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:f5e062f0-2cc9-4573-b1b0-81b86207ea07 phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:885a6df2-83d4-4e0f-b8a2-0da437c46d9e phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:29faabde-c938-4757-938e-9ca4c1287011 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b9ed4eec-45cc-4443-a366-1e532a2ec43f phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bef1ade4-818e-4fa3-93b3-2a09d35018a5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:83f48259-6a38-4462-ab75-a3858d9e2dfa phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:280b8459-df02-4e9a-867e-ee8002b4f352 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f2e6e823-0d6d-4a7c-8736-32bf330208f0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97a8dccb-7db9-4eb8-8edd-a91e45f59c01 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dae4128c-a12d-4eea-9c3d-061cbb4ec9c1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:08e22d2b-f5e7-40ab-8746-c18ec3cddeee phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4f520c43-6b28-4d5f-8977-b60955ee195f phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ad30f6aa-36e7-4f59-8249-0a1712463704 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b606a925-9f91-49e7-a4c3-4b72fe4eca28 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:39650f7d-1cc0-44f3-b0a7-7f5549685080 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4b44e858-d618-490f-b838-e98409a506f9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:24d78df6-c2ea-4c93-be29-f18e5500912d phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:141ffc9c-6fff-4edb-8668-5882233e09e4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6c84f5ef-3846-4946-96da-08368e2eb09f phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d59689bb-7e53-4d44-9246-3bf3177d2f5e phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:d8843901-12ba-4671-a504-7074234dd05d phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1f9fa8e4-1981-49ce-8eb6-a007fc3483ca phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8f86fb01-66be-4877-bd5a-d547af7cab44 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4fc7a8f3-b128-48d5-8c2d-ce6d11108567 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:63ec43ce-6ee6-4817-9411-26f0e0cb8aa8 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aff6bb11-c42e-4022-9ad0-cfb103952da8 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:523f630a-6235-464b-a9d8-54d303453eab phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5ebe9ba9-1668-4a99-b346-885ca4f0dc06 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0dffa7d2-c86b-4324-a0a9-2b4ac6d72722 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0f099d74-4f0e-4132-9021-68ccd8e00d7f phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:eeb37fb0-1542-4767-8521-5cbd18fb0b6a phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:952a7084-df31-4e4b-bf7f-d5880dd102ee phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a97cfdda-8d25-40fc-a1c3-0ca5a903b584 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:af797e57-a9c2-41a0-89c2-185b87623b46 phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e85ee7e0-81d7-4bb5-a649-8abfed134f4c phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:dc3c9407-2ccd-4dd8-b1ed-a6fe2e6f3e66 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:33b56b54-49cf-478a-866c-56e1c63ef224 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:86ed13af-a99a-4a18-a287-1d2d78e43cc8 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ab1f647a-830c-43da-9d79-6ca5d858386c phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4c65f479-40cb-4044-ba5a-07734c725853 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2adc2ded-7e79-42ad-91da-5231e0c15542 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:deb27c65-daa9-4070-82cf-cf786f1a4240 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6fc0cdfc-253c-49e0-bf24-ce11713762be phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5fa0d2a6-dba1-4959-b888-2a9e1619a37e phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c6c1a2f0-ca8b-4361-8db1-f101afb5b87a phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c688a9c9-3f47-4177-9b6d-b3c6a781be1b phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f9ee7ad-ec7f-43ba-924b-e61028fba08e phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a65df2b4-cceb-4326-ac45-15a5fa21ce06 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3033843d-fb9f-459f-bc1f-4ba3f69dec96 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:45e8735d-7d0d-4923-8539-7e9c1dd9083b phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e1bdd005-1070-4e0a-aa14-cf4962b77180 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a225fc1-8db1-40b2-89b3-5580cb261919 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc197ad5-f521-4677-9051-d79e19cd324d phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0304a57a-6c36-4c19-8c6c-112ae45f5e28 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1df67d8d-5267-45de-a7c7-cbd410267863 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:816b83de-fa92-4a27-84a3-22cfba5623e5 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8535c914-7256-44ef-ac24-a2373cd31dc5 phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:176e899c-8f37-419e-8794-704051cd98d4 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:572e0bff-66f8-46e7-8397-f6e21dd9567d phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ec2aa2d0-034c-4a39-8dd9-5a12d186038a phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:14413be7-2a20-41a3-82ab-a7e7a726da1e phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5924062b-3455-42b6-a13e-f90c45a792d2 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:09e519f5-2394-4ebc-b1ba-54ba2e486d34 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6a9d0a7b-520c-44b7-b94f-d63b3f50d716 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:97a19dac-b626-43d1-8469-1a8cf67edc88 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:71282cc5-f01e-4d0d-bfbb-b2bdeafba0b5 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:f0123340-c736-4c7d-8505-f20e2b494631 phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:ce7d9bf7-28c8-4f12-968c-44b5243a7a78 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a3059769-a9a9-42f7-bf3f-1099325599e1 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:847ce225-a9ea-40dc-94a7-d25c790efd32 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d42b098c-7f64-4a31-b595-75a92fde1529 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8658160-ac3c-4a96-aca1-8af94d4787e1 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1c2fc2b8-4da8-4e2d-a7eb-be9b2852ac5f phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5a882ee8-bcfb-4e4a-bc91-299ff372c254 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c857887-9ac9-4795-92cc-f6e1f8980c5d phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6e7839df-dd96-4138-98b7-768b34024d4a phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:16d9452d-0ae2-4f6b-a048-40604551db34 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8af924fc-b5c6-490f-a25b-b260c0c3670a phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ca54f8d1-555f-4ec1-9e52-777dff2dca1d phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:60a2388c-88e8-4ebd-bd7f-b8cca6998f3a phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2f38a7dc-d3f6-4897-afa8-b6d2da7a1f9f phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f5d95146-8f31-4cd1-8250-61cb1a35f893 phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e99fde96-9dfb-45eb-8115-a38e4906054c phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5674c498-5fa6-4ec6-a9ec-6974ac8ef77a phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:10aca8d9-6d80-4339-b7ca-5b0e63f34788 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:38b47525-ca3c-4b08-88ff-c41789fb8ab8 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:81667023-9e54-4664-928f-613c65327c36 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d7d1bbe4-f059-49c5-bd6d-ba87b8d8f77d phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:482bc851-e19c-4eb6-97ff-d06c54f65f77 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:b9e6398b-3a91-4d00-bd4c-670828f3ee26 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:1617f7bf-9530-400c-8e52-21d7743930b1 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:01c47538-b801-4224-aaa2-09abe72b64ec phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:487f7a10-3754-47be-9daa-5d91fe607fbf phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:b8dae337-c650-4eb9-9f06-1aaf442a5771 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:80eb7782-b94a-4025-b610-28ff97bcb6a8 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:cf9cdebc-e061-4e36-85ce-2842093860a6 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:aed0ba9e-ee3f-4897-906e-b0861289d1a2 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:0911b519-7b6d-4b2d-b7b0-dd6925a1b5ce phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:3192bb49-f4aa-45bc-b6ef-644fa1f54517 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:32c201cf-2753-470a-bab9-faacbb2ec0cd phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:dfa9622c-babc-4208-8a65-76662434b6d3 phenopacket.store:NF1.PMID_38596211_individual_10 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:dfb5fc68-865a-413a-b49e-c2c4f2bea405 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b8b3c170-9229-4d33-b370-759d7e94e30c phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aeebe8ce-46ea-4d9e-8119-edf9278f3352 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f28f485-75c8-4ea1-818c-f62fba32d306 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1c39e251-e8a4-40a7-81dc-91d35b23075d phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89ef1a42-0c06-48c8-9b2b-9e2726ec0876 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3af42ea4-159d-4c84-9bd7-523c06978a13 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:389e5b48-7c55-4141-ae7b-ae3ab2c889e2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a888091-769b-4318-9352-cd6eba737872 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa483a4c-22af-4f8e-9f9b-22c5f622465f phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35b8293d-426e-4b55-9149-4d3940cbfad6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:665932c3-916d-49be-b9b4-f71dbee33de9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4cc62c1-a01b-4280-8457-f7e64d64758b phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:80d5c139-d2f5-48f4-a67d-743eb82a7124 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c9613f6c-a061-45e9-8fd7-2b837d20deed phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:acd97f32-c4a4-4f4e-bd0a-c473fc9a723b phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12f13a5a-c049-49fa-b89b-aa27be2f0854 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b8dff92-ec5f-45bc-891c-e5cc283b0295 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3f765ba4-ebcb-479c-af42-5a4a6a3454d8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f63df222-f0fb-4a51-8378-2ceab4527b5d phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e20d010b-8fd9-47d4-8359-0c67bd53dbbc phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a24d0de6-560f-41fb-a303-d295ce6d5dd6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b85d328-c058-4e77-8f9e-13e1967df4ac phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f3c08f3e-fedd-4558-a991-69e1a01b5008 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:61c3b190-7de6-4f38-bf1b-46d5135cbf0e phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:219886a9-e7f9-4154-ac74-3e00b5601f33 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:2bac401c-83a9-4942-8e1b-d628949c1f47 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:ef120e85-190e-494c-9ccb-4b3ba57a46ba phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:f9be533e-0165-4506-adcd-cb8403b5f40c phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:0a4dc468-b2f1-4032-a4fd-80d9ddaaaacc phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8664912 uuid:591dc65c-b414-440c-929c-6a9695f69e15 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:685d414d-54a3-46a3-ab3d-4daf187c59c4 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:1b434105-98a1-4723-8133-d2466d1a5e9b phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:b0e39032-6c02-4885-9b2d-993a09ba9d31 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:714aa10e-4142-42c7-b441-8883957ab21c phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:ea1e526c-296f-4bab-8db5-e668f6af9f50 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:75473e08-2eb6-4731-be1d-c48dc1b31c32 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:c3adb375-163c-495f-ae40-faafd0f563a0 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:7ee6b43a-798f-48cd-8029-4e86a45ce4d7 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8664912 uuid:a79880e9-fd98-41f0-b4fa-3eafc7c5ade6 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8664912 uuid:3feefda8-4a27-43d6-8918-6b1cecea3656 phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8664912 uuid:c2ce8588-2d21-41fd-8c58-bba9c86fb5ce phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:5d614817-f161-4590-822b-59b29183fc4b phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:3edc3447-4cc7-49ec-b59f-a058154156d5 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:c6cae94a-0d50-4e6f-bf04-56f786e48941 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:67029434-cbe6-434b-8e5a-52114b4fbf89 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:51eec14e-a9cd-42bc-80e4-a0b63bffb70d phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:8b6d0256-7479-4a7c-9e98-04cd5a657e8b phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:fd4c9656-cc81-40eb-82d8-c457788b99d1 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:b5ad47b2-a904-4878-8d2f-68b2a9f21446 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:acecf1ca-fce0-4052-b301-e2adb877bc06 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e40a1eb4-06fc-4a74-9be5-7198e481fd04 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:8ab811f7-c1d7-4520-9f06-e8548e3be45b phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:5595c60a-070f-4cb9-84af-bab129cc35b3 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9bd472f6-0347-426a-8a39-a14f33bdc7c1 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:297c218d-0712-42f6-ae27-56de7478c530 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e0a0ce77-dfd2-4200-80f8-9d8b9487816c phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:f8dc4c93-c250-4fdc-9f27-57eb9471dc08 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:e9bd7cb9-020a-4c7b-96b8-5a29f22978c5 phenopacket.store:NF1.PMID_38596211_individual_3 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:624f6428-2dd0-4894-aa90-0a5538ddbb8b phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:ee64d38c-c660-4cca-aed2-2f16b488fa4b phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:74b30aac-24df-47cb-92f8-9180519938dd phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6a643428-35d0-4518-831f-1561c2455881 phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:86f56e2c-295e-4c28-9cc3-bc74bc9812ee phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:28df589d-7e3c-4629-9680-2e5ae94985d1 phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8bb1e556-2cc2-47c4-b350-f1593e0b3a71 phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:73d8c24a-2a50-4fe4-8fee-8f01a05b221b phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:178c8200-e92f-49ea-ba42-bc6c93049c7c phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:4a338bd8-212f-4511-bd4a-46eb42c0afed phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:56680ee5-614a-43cf-be45-a9f2688dc280 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:21d469e7-61f8-4366-9dd8-6c3a29860fdf phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:57e7a207-fcce-4475-9c6c-8102deab58b3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eb6fe80f-70b0-4214-9af1-d3e05b724573 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:41deb82f-945f-4e98-a3ae-cbb39149af47 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c93705e4-0b0e-463d-b88c-a4eb250ad4a4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a75e5bf2-1fe9-43cb-9dae-11373720ba35 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ef1ca7e9-9216-46bb-9e07-0fc14561cddf phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1adba1cb-d7dc-4ec9-902c-5cd7f5e088ed phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa111755-4626-43e3-a8fc-a623244387fb phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d32dcd5b-dd74-4414-a150-d6c52472bc46 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a4587df-82ee-44a9-8a21-170cbf84e985 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:98361d5a-0f8d-4097-975d-3aa43bb6ac97 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aca81e40-c869-4f4d-a83d-fdaec588e1a0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:77d25423-c649-4ab7-9f89-d3b56ff713c0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2620d419-3e22-4c4c-b23d-a0d916b58e98 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:48f90abd-6c98-4f2a-8064-1dd6975e1be8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0af7d95a-98fd-401c-84dd-8a5f02e05eb3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5682a2f8-46a7-4613-a88e-7dadecfd93d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2c10619b-f712-46e6-baa3-ed9ea1e66c8b phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0944fbc7-aafc-4302-bba1-c08a16914b4a phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4998a40d-6344-412f-b217-ae4557e46752 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:23d508e6-9443-40b3-bf89-b822611482af phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:6ca1f9e9-0720-486f-b4e5-fbce0692ccdc phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d294b016-58c9-4f12-8a75-64b914012446 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:eec17600-df2c-476a-b331-4962db075e37 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:81941d6a-325a-44c3-839a-2a6518187bb5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:cbf41a39-a216-4a7f-85ea-696b3b11295f phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:220b89c8-b881-455a-91c2-5aa9094d6567 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78a69cbb-5e3a-4c0c-b09e-8858e16d2292 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7a9ea2f2-54ff-4a36-99e8-fca3ce4f8be7 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5955114c-8694-406c-b895-678c13deb15a phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:542fd816-4322-43a5-becc-9c1b00b00c39 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1e9a9f30-aa6b-4b5a-9609-cb827889d744 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91cb3918-0e53-4110-a6a9-afce1efdb0c6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:65a9de0a-c308-41f1-9ef5-17718ee4940b phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8e4c95d1-82dd-4a6a-822c-84343de06a51 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4f34af35-d231-49c8-917d-74e6f01a333c phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7cef24cd-8fe5-492e-9f2e-e2dabdcae6b1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1a056aea-f889-469f-83e9-3931ffbfb347 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2dd1dc33-c476-450b-b45e-3cd1458bb3bb phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:728455a2-f9dd-46dd-90fc-f75b6cdebed0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8a625bb1-a98e-4258-9948-9ad778e29cd9 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1abddfc9-bee2-4f71-9a72-fdb236a0a484 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d2863c0-83b8-4e28-a901-15fdc1962847 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c3b9bc1-8bd4-433b-ba92-beb6242301c7 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:596d312a-0086-4f60-93d3-ab8ac1121323 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7dc7a0a-58ed-4276-9a1f-7046d097d122 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7122a7fd-a3a0-4f19-b7b7-a81dc58c7f08 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:889552d5-c939-4be8-8531-f922ebded146 phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1a0500a6-f48f-4a2e-9e3e-2dfe3f6d6173 phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:50658b07-b6a9-4c31-9b6b-62dc99b16388 phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:c4ca5b43-cb5a-414a-a027-e5f07a9943ba phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:5fd2fa0b-2dc3-49c7-b12e-d4e91c967eca phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ac1a533f-29b2-4e50-82bc-464d4cbb3ef8 phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:cbc26ced-3fef-4aaa-b8d3-ebb42b55ae6f phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:8e1a2522-debd-4c58-9e94-32f97ea887db phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:dc1d483a-1097-42ed-8531-b258aa301693 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:249f8980-0446-4b68-9eb0-775a0763c807 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:8e83815d-6371-4bc4-b7f2-9c4837394d98 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6f0a8fbb-9da3-4498-af9c-aae894f3b913 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b46d1580-7232-4d22-b6d8-b6b194e022df phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:41f02030-0ee0-443d-93b5-af8737d55fee phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:78587f2d-8671-4977-a0a0-4efcf4669b5e phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31e4d4ae-5bc0-4af4-93ac-de50647d9fbe phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b1a257f2-7fae-4621-a375-eb1b7b0d5117 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ac898235-b5e1-499c-88f8-647f9dabaaf9 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3bf0902b-6c0f-4004-b86d-313efe160931 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a7af9b95-1ae6-48cb-8b6e-73137cc8e0e7 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8d6f5563-6671-4b80-a117-ebfe01ed687d phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:28f657a9-23a7-441f-977a-e932f9f843d7 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:25c6f933-f12b-4bfa-a9e3-192db3493257 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e93a73b0-3048-448b-bb15-5bae14992100 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:594241ce-62b1-4580-afc1-02da9c2d018f phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:be7a549d-adfa-42bb-b621-e705fd0cc2a8 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ee92a593-a3db-45ac-87e6-a37777b580c0 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:484b2d53-437f-415e-8070-026c6faf5c30 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:03fcbf75-946b-4c26-8e08-8900cee567f4 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31b59013-8e45-4547-82db-9f652df34972 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:66acf40e-0253-4fc8-a7ee-85e9aab8ffa6 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e4839da7-3202-438a-90e8-d0a4797223ff phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f2b1c73f-dd3e-414d-b68a-efec60bd02a4 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:02bfe36d-90ad-498c-ad6e-00e542a5e2bc phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bacc75d9-6c52-4b27-b60d-42c7d8dcd1aa phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d24a2928-b2ac-4dce-b83c-5410e3c3ffa1 phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7cebb10e-e844-487f-af47-ba9c0ed5373b phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d98a1c4e-5f0b-4e37-9d8c-e6c040649eac phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9b64c6e2-9c01-4f30-b520-38434765eea6 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:38860f3c-2cc4-4902-9ed2-a0aa5bf00c31 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f5985575-688a-4bb8-99d2-3094c4c2c62e phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fc01caf8-fcd6-42b5-beb0-9254c7b679c3 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ec63bed1-3628-4602-83f1-0dff648aa681 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:58a32df1-a341-4764-b48c-8c49c657a3e7 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e0c6f2ce-91bf-4110-893a-1ff401dfca5e phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d0b93d56-1f03-4175-ac6b-5d155176802a phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e035174a-adbe-4c06-bb43-2214c6ff9c9f phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c9d4a04d-8a03-4732-973f-c46a36b16dab phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:893365cf-8c77-45b0-920a-8f84189582a7 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4ca08408-1184-4fd4-8ec1-9b0973b94a4b phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1d120991-7342-4339-9b19-6a621593dca4 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7fb73d4f-2b1e-4673-8aca-05cd188f434a phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:45763ae0-6e6a-479e-b365-1690430639b3 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1b56dec4-e3e0-47b2-80d5-3ac4317efa78 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5eec238d-64f2-40af-aede-274333b38324 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:55b81583-cb8d-4726-a1cd-310577b40527 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0c605035-c72f-4f3e-84a6-04817089ae02 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:2702970b-cfcf-4473-a1aa-87ef911f16bf phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:69db52dd-1202-4c19-86ae-dc3672f53231 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:da62fb34-9afa-4705-b675-a7204d1b23ef phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:3706b9f3-bfe0-4009-885a-a012a2555f2b phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5ae7be1d-a9e5-4911-943a-ba4bc7a72457 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:9e93efef-3fc1-402f-b29b-9a911bb00169 phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:8fce8d48-acf3-410d-b211-1dc499194170 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:cb27ee49-a1d0-4294-8f8f-0bda7917e92f phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:73b26708-15bc-485e-bb08-ba9065e9bb39 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:61e80a59-5d8e-4a01-9762-1af9caf316ef phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7df3ac76-5a0b-4102-8742-fb2b885667a5 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7768cab0-c263-4cb1-a00c-b5106a1c7587 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:bdb4a3cb-4989-4760-825c-4d7c62ded990 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4ac58688-e4c0-4bc5-b346-3cf1656f3a86 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:ae81c5d5-6f49-4063-a663-5779f459572b phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:97df3c32-d216-456a-a2bc-d0d4ca7477b0 phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:f41ad7ae-d390-4d1e-9095-0c88cbf1ae04 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3d2b7fd3-a892-4a65-b010-0242b0e53820 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c14fbe90-d1e5-4b3d-b048-e78835a3aaa4 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:12bf4cfc-9682-4c14-bfd5-99ea8ea42cb3 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:47e5b6ac-4bff-40c5-8796-a05518fed5ac phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b87c8be-e68b-4991-9977-cc9a91b01fd2 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:51716d74-446e-4507-ba41-0a3d47f7e9eb phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55909178-95f6-4970-ae5d-fa5ff5e3027a phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1810d5a9-8906-4e38-9d04-153138e10083 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c0a936a5-3912-4243-8007-176856c85287 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d6a833b5-ee7c-4844-a64a-d1e53cf7caea phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cf53432b-22a3-4c81-8bf2-6622de7d9f7a phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3e3e539-89e6-4411-92c8-4ee1ad5206da phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1dca327d-ab8d-4105-b1c4-cdbf708cedf2 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:be47c37b-65a7-4639-b277-83884d1da52d phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b9dfe7a0-94c0-4a05-b3e6-068d7946f42c phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fad83659-6b06-4514-b6c6-490d1f43da07 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:79850b45-d6f9-49ff-b00b-9560146119ff phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac8cb977-fca0-4daf-b983-693815e2d3d2 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a991b2e-a41f-4abc-b596-ef7d5407b321 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e44d5ac5-36a4-4a3c-ba47-9bd11bd6e233 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7040aa2b-999d-40c9-9902-75e489cc3553 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ce63327-ce11-4c1a-b07f-ec82a38d21f3 phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:deaf617f-6137-44cd-9870-1e480e064a9a phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cb3e95bc-9da8-413e-985f-3cf8e6155786 phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:693104e2-55d7-4258-98e8-c52bc7e98950 phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:24897291-245a-4316-93ce-f64077c04706 phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:db9adc6c-f83c-4d56-a797-3ba9a89afa27 phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:afc7ee69-6e0f-42ee-b003-60875490f603 phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d82aeeea-a990-46e5-9740-2ed0578ce11a phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cbdb0fe6-4933-4fc5-adae-1b2c035d945e phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:13be61c9-3c3f-4683-8581-b00bc42d4701 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1e993260-6bbb-4b99-913f-9bb42f04e15a phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:72c6708d-e155-4362-8e38-40b3f9b295f0 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f0bf3ae0-a2c2-4254-840c-69a5f78db8a5 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:354177bf-f0cb-4f00-984f-7642d5236d7f phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac5a9ccf-32b0-43c1-87ab-eeb3b374c5fa phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4a93519-de49-4187-8090-63ea6bc29688 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bdc1c1d4-88bd-446c-ae4d-362b6912e8d2 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f2715f1b-9d53-4e87-b68a-a795e362b4bd phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0b29278c-8ec1-43a8-bded-a7aef27903c4 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:61a11197-82ba-45d6-9dbd-8c307b8c84ea phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:be89e3f3-3263-4bd9-bca1-b12614ad8fdf phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc3cb596-e674-4e94-b96f-4982b78842fa phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b96ff395-be91-4b27-b0c1-c5a8581f3f60 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4621c2fa-024d-4ba9-9221-4d96b6676420 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cf2f5fc7-4e9f-4104-be5b-2cc2632315e9 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b17ee82c-0c3b-4faf-97ad-c01d623553f2 phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:4e289a09-6f62-42fb-b763-75e3b48f5d87 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5cc82219-2416-4091-986a-c12dbfc4372a phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2eb1f68a-325c-400b-a945-2525be858d56 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7fc87ebe-6092-4b12-beee-bab27ac89081 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bde6c592-c372-4b62-a6ac-09628ec9520d phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b9234203-fd06-4e9c-b817-b02e6d24e327 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a0e4f799-d600-41af-bb5a-33874f0079bb phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:75cc0800-9da0-453b-a455-d06512948238 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9dc36186-30a4-4027-aa91-20c7d654f8f9 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:407c26db-27fc-4f58-86a6-91a1887ab9f0 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:263743cc-41f0-46e6-be32-1820d206ef2d phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:809703ad-9016-4a96-9ea8-0f5b16bdb570 phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d3396668-d402-4220-ae06-fac861351d91 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2dd36e05-76e3-46aa-b5bf-46894f26e4ce phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:087b5def-9437-46ca-bd6e-45766f1c6c6e phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f1cb4e42-e867-4c7f-9062-2dc53b2d9b47 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0290ff2c-647b-4cd9-97f7-dbf421da6266 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02092d11-a01c-4a46-881b-7a935d5bc976 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b509a811-25a4-4dd3-b9e3-9fab3d2ae46f phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc878e78-97d6-415c-993f-92002f06a608 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac3e9ea4-9b51-4b28-bde6-e949090d85ae phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:86135564-92b5-4c14-bff3-02ee564db8c4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:843cf6af-49ec-42ed-b123-846fde60fb6c phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:01d08920-2e71-4e6b-ba87-378c069ae77b phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1551c079-4c7e-4a08-8e31-d0c9934ae996 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1219723a-6fef-49cb-8bc6-a0b9344f9c86 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:893e50ff-8443-481f-9031-9c9833fd4a3d phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0418224f-b586-46fc-8075-8ac0b7c18783 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:19af356a-a057-4ae9-b595-5b2e78f879bf phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82e1e90d-651e-4648-a661-dbe3cf8778e3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c9ea76ac-122c-4ccc-9e18-64eb2d8f2aa9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64b94cd6-4806-4a27-bd80-f0d32eb52c6d phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ebe38f2a-e7e1-432d-b97f-2aa3c246a4ea phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e14716c-c1b8-4456-a6a4-04fc6251d2ce phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5311f030-5362-4104-88b3-57fb034d07bd phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97a56add-9c3b-4eeb-bf54-bcfa86e73660 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5d050a07-23ee-4ccd-a73f-4cb56e48cea3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:adfbf12e-195d-453e-bf0b-2522a7155387 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:6805285a-52b9-4c4d-b463-1a8299e5c344 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c92c38b8-91da-41c6-b68a-dfafcda478f0 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:71c01886-8852-4436-a37d-6413d85c9ba9 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:964261d6-dee6-44cf-aa06-181b7ae3af9e phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:840b6489-f007-4563-b264-f0e26e084312 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8de9a455-c642-4ba1-99b5-94b0ccf45a0c phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6c6db10e-9211-4aba-b4d8-fe53bcdf149c phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f7641bcd-811f-48f9-b94e-411d3243035d phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:53af6a9d-653e-4e72-8997-24b60d34babd phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:66eb29bd-c26e-4bf4-b6af-ebfd856d4786 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:115e7cc4-f763-4b6e-b829-58d71c6ffa28 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:687a6655-ce32-4ac4-83d2-33834c9d2f5d phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:393a2f6e-7689-4ab5-a2d9-3afe87bb7d6e phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:11d9a531-476e-414e-b6aa-23114cd24f49 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e5ea7663-81cc-4488-92a2-38a114002631 phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:24d60df0-fb26-4136-ac5e-6ccf829fac42 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a9e119c3-c1fd-4c41-a0a6-15191679235b phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9349fcf4-8f26-4bcf-aadc-f9af6b7f7462 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4ce1e658-e6ac-42a8-97a9-ba1434b64e0e phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:28d5ef74-3452-4266-8e61-9784b8618a3c phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1b384a23-a79a-49c9-a146-3349f0eb1ce3 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:bc02c0db-1473-462d-91c3-150f27b5ea44 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ec1f2ca3-3cf2-45ca-9d9a-397719347b12 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5e73dfc8-8cf2-4342-81bd-29fda1bf4b77 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9572d3c7-7f2e-49cb-90e9-9fa5860d4646 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a92bdb98-4227-48d7-9b71-702ee225c991 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dcfaa6bd-d462-4bdf-9115-45441bf1585d phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0edb60e9-e22b-4716-b840-cc0847d55c0f phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8f0cd8cf-c08b-4a32-b955-6c803f9dd31c phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6e7f621-10d3-4955-b118-2c443735d5eb phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a9d97f96-7e54-4ae5-b5ad-4417443b8304 phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5d4ef65d-a30e-453b-9523-6240238a5157 phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:06c5a267-ca9d-4c7c-a2d8-a9b8ce4667e0 phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:280cdb20-bbdb-4931-8952-e0c39a163d39 phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:92d45ef9-90ee-4774-88e3-cf9fbd550119 phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:4db13917-eb62-48eb-b5a3-fccb9d58abbb phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:82fe8b8f-0a00-4a88-a3f9-f8530c86343e phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:28efa403-4d8a-478f-860d-14d0fca5b197 phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:87da04fc-7f96-4d1e-8f71-089e8a40b1da phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:81aeb39d-61ac-4af3-864a-49861ec64049 phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:a9b11d04-7330-47c8-a736-a290defa637e phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5d507162-d36b-45b5-b826-cd7da8120991 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:13e3d6a5-979e-4523-b877-e75196e32805 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:30b944d2-a507-4b8b-9589-714cd773aa9b phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:782c96fa-b10b-405d-bc71-297936462d05 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:491a8b22-2161-475b-aaef-38dcb648979a phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8d67331-3427-489c-a2fd-bbce4910e142 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dd670778-637e-4867-9455-e7555a6d553c phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f0bf820c-ea0c-4c0c-b396-13ec6b9ad756 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ae482a68-3733-41be-a93c-940046871d12 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:11979f38-b4cd-4563-a74f-2f72fcea3de9 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:57e2db11-efa4-4c34-945e-51c24a1e5bdd phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a1be18b3-0265-4915-8620-eb3204acdfa5 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ea8adc87-bbc8-45c6-ba20-bd12c17bea94 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a629054e-0f91-41ef-ac07-dbbe3b927bec phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:e1fa79f7-c268-423c-9186-ec750000c183 phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:7cb60b6f-cd13-4bf3-8ad6-23f585611f94 phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8d118571-09b1-4e41-82b6-2ef771e097a5 phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:9ea24ba3-ae75-418f-a88a-f2e5c3c14982 phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:abfc96d1-c7da-437a-912a-edebf826eba5 phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:aa2143b8-01e4-4e05-b06b-d4abb31cbabe phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:70afd254-a5c5-4680-8c7e-0bb9e7330393 phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:977bf08a-a9f7-4c58-be55-6a540e32339d phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:f5fb1d40-f022-4c49-b324-832805a330d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3cf6c41b-928c-45ac-a823-9b99373e7ba9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a0241048-0932-4275-9e8f-c8e7a721031c phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d989eb26-392b-4e77-aafc-befc05312c53 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66002b12-88ab-43a2-9f1e-283c58c6157b phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d22dd3e0-b8c8-42ca-a8dc-5cf056cb4d3e phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:21f242ea-dd21-4f6d-8ef7-d2adc4931c7f phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4298e205-6e0f-418e-9da9-7b25fd10fcb9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78dcc1ce-5ee3-4d6c-85d7-8108cacd1923 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:27d716ad-710a-47c6-a01f-ff660daaff5a phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94b4ce28-271b-4022-bfa3-cda1cc66351c phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:87fc0788-9253-430e-bc51-e4b8ccc0f553 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:32efe613-e814-403c-a054-311ef8013370 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7907542-03c1-4842-b82c-861b59dd2c02 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5750230a-6f85-4cd1-bc16-eddce08fa864 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:345dbacd-0d3f-4df2-b618-a747ca275aae phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fa3db93-368c-489c-99aa-ad123ae86101 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e7310d87-74bf-47b4-9779-350fec809ca3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1a233e4e-f929-4db3-a326-42440d63d8de phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7e126ef-e0c5-47b0-acd8-a3bdf49eeb17 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1730d952-e30d-4353-aa21-dc107ff87e78 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ab648c8-b845-45c3-841c-30d6ceaec95d phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:29ec5d2d-e216-4e9a-868e-44ec3044903a phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7755664a-68af-492c-b817-745cb6681cd5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8fe91aba-580b-4e9f-8f60-d4c08fc2b7fc phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bbda820a-5e18-4cb3-b9bc-67426e5c48d1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0299944a-b0ea-4737-8bd7-6a820034afc9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:87ba5222-ba36-4160-853b-76dca5a86a7c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0d7ce1cc-f5c5-4376-857f-70660c51a8d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d2f2b99e-4ff6-4ba7-a414-be3a0ac6c0e4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:df54ef16-4f03-4c2d-bceb-e213591e7259 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5aa7b36e-de56-49af-af06-805770f0002e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:551d6e39-5722-4e8a-add1-15817455d3d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:658711af-95d3-4d2b-8475-f18e127f77d2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd54954c-9638-4fca-95fc-109855071789 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1fb10813-a8f0-4228-84ba-3284b954d36b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dc3094cb-0109-46f9-a39e-22c0374052b2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:40d2cf4d-1537-4355-b9df-ab85e15141e6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4481487a-5357-4649-aade-a8c3222929b9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d5e3e4f2-51e0-4b04-bc1e-3a6cade776cf phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c2e4ca9b-28ad-47d0-b351-de9b32c42e88 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a1cf219b-0933-4a41-a3da-810008222e44 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:44653d2a-6909-457e-88a3-9c407609f412 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:bbef03bc-5e9e-42da-b247-ec51c82fc9b3 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cc41be88-e03a-48cd-85f2-13435a278be1 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:53c6a374-11f1-49d1-849c-bb3b0a15b85d phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:71929d3d-7522-41e5-a58d-712dd8caee0f phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3570cca7-1550-4866-a60f-2651b1c99d11 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:159600fa-2cd5-4635-9fa8-5cb5f6929cfb phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aa76144f-8dd5-40cf-bdcb-55a251e18cee phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:58ce2b96-b1a5-4b08-8c5b-3ee6ecd86f4c phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cff54bd8-1a8a-41d5-ab13-2982ec50846b phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:082333c4-d4a1-42c8-8e7d-f5942ab3f82b phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c52a8cf5-47d8-4425-9289-10ebd10b9a1a phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fc609dd5-837b-4f5a-93bc-c0d0002794ca phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d0213a3f-9783-459f-9855-c086c09c21a7 phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4e4e60ef-1ede-460f-b291-69be759ffb29 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2978df24-8536-4b5b-9c2b-e81a5d30539e phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:bc6fb6b0-e255-4a02-8266-816e4ec0ced6 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:763f4593-2d11-4944-9b9f-1910f9c65372 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4aa8adc2-725b-42bf-98cb-22fae12b647e phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:697c8595-0da2-4c9e-9141-2dd1893f576c phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:84065ae9-5b25-49e4-a6c4-2edf78237c23 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b15055c-4f7e-42a0-beff-3b7c477886e8 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:64e39af6-c2f4-4a1f-af50-93f7b9847b43 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9b7ee727-8321-4462-af43-1b0ef34253f6 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4352dc09-bb93-490b-9d3c-9f99f069746c phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:66309cbb-fa89-404d-b6e2-800ff428edda phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:27d01a05-836f-4c36-b68e-2182e09ecf1f phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0afd78c4-c891-4a43-bec4-4ae5135245a1 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:98fb8a75-fc01-4315-be4d-600382069877 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7a1a7dc4-ed70-4196-8ba1-fd1d44aed0e5 phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:fa297c89-62ef-4188-a4b0-722511900e40 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:a707f047-df00-46cb-8553-631ab7f105f3 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e77b35fe-6709-4ac9-abde-041bb649b459 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:113fe352-f3be-42fd-bcce-9c49e3a56ee9 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6fdf283b-6bd6-449c-9269-fc740b88530f phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6ffe8a29-610e-490c-8907-16f48fbdeece phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9250a318-a459-47d9-b230-7543d392280f phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1c272fe9-b69a-401f-9c8e-96cb4082cc75 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:59744405-a637-4925-aec4-e24eb0d94151 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:62f960d0-e20c-4c75-b75a-0df6013f39e9 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cfc31ae5-de52-4fb4-a371-527176c6854e phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7426570d-c3c1-42de-9500-39d6bfb28d0f phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8c9497da-c357-462b-8f81-9f7384758207 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0ee5d661-a129-41e6-b0e7-25f30f150c35 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4bfbd075-2ca4-4094-8720-4668f9ee649c phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:85a8fbdc-cf86-433a-bc42-02ac2c357959 phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5203fbcc-63b1-43b2-853e-75ae78cff7db phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:33a78138-d263-4f64-a2eb-488547884eea phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0d0dc9d7-4b12-46a0-9a3f-f5f3de343f1b phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5813d179-8913-4349-9aff-840f5cc30adb phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7e4b6c6c-2044-462a-a423-ed5856946f3e phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:29064da5-d1b9-4d0e-a1c5-fdecb71252cb phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:acbecd1a-255d-4074-bd1c-90d9a0071774 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:00b923ac-b572-4035-a097-07e9fd9eb39e phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63d7115d-c6ff-40e7-96ae-93deda65a696 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6005cf9d-11d1-45b1-8ab5-78fc65a89705 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2504fb83-0914-4e50-8105-f8c9113b34b7 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c0d85688-dcf9-4bf0-a451-2aaf014e158d phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91a9226f-eb6a-46f4-af6b-524490120785 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:53d5dff8-39cc-4b54-a024-fb0c4a313910 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee0404e4-e6d6-4b5b-84bc-cf79f53e1581 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e472461-5e4c-4f41-9c45-93109b2ca48b phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f229ff11-5ff3-4adb-92e4-9b4d3a5c1706 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9875e1e7-bbeb-4f9c-961f-df6a2fb45639 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fe331674-ddcb-4f3d-8361-43d27b9ec4be phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3a8c2d8c-2594-428f-b25d-1a51a90d1d85 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d8d1b6f4-8263-4733-9bbf-e1330ef4379d phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:23f2c45c-963e-4f24-86dd-c926bd2b7f9d phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c7dceab5-2fca-475e-afc0-b6521c042c5d phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9ee6949e-110e-4ad5-838a-ffd350e15977 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:072f5a29-c850-4a6e-bb36-8fe6838756b4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:117d593b-e6c6-4644-b52c-a8630dce7019 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b09d97a6-5163-4ce5-8a19-400d52dfe0e2 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b5030c82-98e6-4967-91c0-757a6f5be372 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e1bcfb0b-e0b6-4957-b65a-8ed4b3f75bff phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0140329b-8abe-4758-b05f-519101ddf9ed phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:819dff76-be67-45c1-87dc-ec6e48a05c10 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bcbb0937-abe8-4b18-a424-c324f56557d7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:24ace9d2-4421-4c81-ab44-45eebbc6cc0b phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2bce0308-e4ed-4631-b39d-5cd78c18fea1 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:929ca662-4a59-4530-918f-15c99a9d52b1 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:46adc0c4-9ed7-4fbe-9016-e0ee95c6466e phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:64afdc2e-300b-4cdd-b1d0-80ba2fc79434 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f9b643b2-539e-41a7-bb41-5539f8b54d6f phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b67f184d-c226-44f1-95ba-fe3dbe18e5ab phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fcfba06e-f9b1-4f57-8bde-ab3693c6eb9c phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:67fbd2fc-50ce-409c-b7e1-0204c8eff96b phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e12e5c82-892d-4a31-846c-1e9be4ea7778 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4130011-7f80-4f75-9ce7-1446419cc5b3 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:037daba1-46cc-4c1b-b550-6c03d477b200 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:92e746bf-6b8a-4b1a-92d8-cac09364820c phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2be89a84-1b1a-41e7-a742-a3fb7c32fa6f phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7a927f63-7669-4969-b8b8-befa1b18ea80 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:2cde4da3-d38e-4213-9b13-37777656b42b phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9b21cc0e-9e69-430d-b0c0-26c7f616cca2 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:02317ec0-8230-4d08-94ad-51c066dac625 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ee376a0d-3702-4796-8ffa-f144e356ab1c phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8f4ef0ff-1951-49e1-9f60-0572a165a890 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c661997e-1d2d-446b-9523-098cf6f4c302 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6121194a-3c40-48d9-9b7e-c765924f8552 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:81b53f02-7ef5-486c-881d-356209f052f7 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:65779d94-ff35-4633-8ecf-83d73108493a phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:50620963-6c25-4732-9a66-d5ed88233377 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8783d78-50da-4c4f-98a5-54ad13210efc phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6394a662-372b-436f-a5e0-c794cbf6d2ec phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c25d4844-4631-4de9-9d1b-391871677444 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:db5c5b96-7f04-4406-af13-2c9b7bc5f209 phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:d7a70645-90e7-4f0f-b7b0-4c410fd5752c phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:7aa82224-b35d-454f-b0db-0d91ae71299a phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f2e0e3f2-88a9-498e-ae64-9d7edd14707a phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:70a58987-1dd5-4671-b0b2-33b903df5703 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0715bb8a-b5d4-4025-a3f9-2f20490173a4 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e104ce0a-8346-44c2-97e8-532d24bcfc25 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1f166cf3-56ab-445a-add4-73b99214dc48 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:17867d54-56fa-4054-b531-fe8b35285225 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:370fce7f-1a82-41df-8ae2-3ec78848a313 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4a026b12-0aac-47f9-89a4-561eceb9081b phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8c657246-d972-4aea-b4b3-ccac4e581f05 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c1168784-4ad9-4e85-bd51-5a4968ac583e phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0a9f886c-6d7d-4217-8b03-95db39785305 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8f1ebe21-469d-45ba-afcf-93441696c6f1 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ea9aad16-9c77-4146-bf22-c31da2878d22 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b7056880-33a6-4c1e-bf30-bf1c69fe3ae4 phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f475bfda-e83c-439e-869e-c07c3568cd0d phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:53dcb86e-096d-483a-83e7-b460fa6bc71f phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:d111036f-c52a-4a7e-b3dd-ccfd80da8c34 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:3ab6f566-fd26-490d-9cdc-dce917b4b0e5 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:28e01f7b-7fce-4b90-a462-dd30ac70580d phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:b8e5e3e0-6a4e-4ecb-b4c8-ee406b1fc2b8 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:306ed81e-df84-4b18-a6cc-8cb41c7e87c8 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:39eea239-231b-4ce4-a744-9e30db7b3e32 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:0a30e666-9fef-4c89-8a82-418b383a3dc3 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9289bb38-d8c7-4ca3-987f-7f2b64931c55 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:75ae1da7-de8c-4beb-ad33-62c197a8a484 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d075fa07-8684-430b-ab13-7155ea6b158e phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d7d057c2-4235-4f7b-b531-a3eaa00b9a1f phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:4ee70b73-232b-4af6-a7e5-6c82b66b8364 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:0ae19c7c-cb21-49af-b397-dcb055f23735 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:4dc10552-733f-4f89-ab1a-a27c8cd831d0 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:e3203b5d-65e9-4d30-9c49-452f1537b468 phenopacket.store:NF1.PMID_38596211_individual_13 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:943f2852-3934-423f-b11d-f99202d5124f phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1c6ad576-68fa-42e3-937c-072b30eda02b phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4461c94f-4326-47a1-b263-9fd77a8bacf1 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:60b3e3d3-0c5c-446f-bae5-6666765a5e21 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6781bb87-0812-4406-bf1d-a2239ad07597 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c1cbb69-10e2-4eb5-aec2-c130e0e49ee6 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:89d46e81-6315-4717-9226-1b8e8f7cabd7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b7d2cb82-8dad-4122-984b-a7e2edd397eb phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:da953504-f7d1-426f-8595-3331d5d842c0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7e662d2c-f9af-414b-8ace-2e3b035f2fce phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:11c1ba36-8f24-4e11-9190-291c9d498c3c phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:10889e0a-257c-4587-9dc8-f733910392bc phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a7de3080-8626-4fa4-b79c-914504f9a531 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2ad942a6-8cd2-42d5-8022-8bc912ed3a0c phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:59647975-b55c-46b4-890e-ace7a5362edf phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c39f412d-b1e9-4463-b1cb-0fb8e544bf03 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3f1b43eb-eef7-4a25-b4bb-96b4115f80fa phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6b318818-a80b-4bff-9c78-6702dd99bfbf phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bd702192-d12c-47b5-95d5-fff2eed7413d phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:15f4f6ec-63bb-4be0-a9da-aac68191a89b phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1bd1bdaf-dc54-4484-8887-d55df44eecfb phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9f7137f1-d59c-4ef9-9b94-8239b884e520 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:baad1c64-7200-44dd-bae0-77214f00ed89 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:008aa057-459d-4508-bffc-48a931c7055f phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1e314261-6f3a-4cb2-81d8-85909c270ee6 phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:316cfb81-2555-4c90-8442-b73beef0fba0 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:b47a6483-8957-43ca-a236-ef2c8a4734f1 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0b8d7c19-427e-49ff-a3a5-f5f0cf266d34 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9e9c9df7-cfff-4b54-8540-0ebc11464d4f phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:66ced275-0b43-4cd9-bceb-2b2fc1de2400 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:38db4fb4-2f01-4662-9b42-0c3a9b87ad91 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f4c11364-6122-4c4a-b017-c9dbda7da986 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:dda42080-4433-4d09-a797-7c5ec8f74358 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4abf72bf-b04b-4afa-89f1-99aabdadf2fe phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:a90fa17f-c6cf-45ea-ab34-b39619201042 phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:931f9308-4f4d-4693-a861-38124ad526ff phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:45f9c228-d2f6-4596-a4c5-9097ec28cba9 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:bd8af220-3744-4304-97e5-b859aa979354 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e12d086e-c2d1-4478-9227-76439f959fc8 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:edb4de46-6f76-4f9e-9975-3d7f83999388 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:89fe25b9-b15e-4f62-b8df-011033120389 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:2557eb57-4cdf-4a8b-a44c-2e605cc79d26 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:20c3a793-8dfb-41b6-be6f-b5cb1374dd8e phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:6f398a9b-1a92-4243-8c52-e682e8bfb1d3 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:f9e2a00d-98ea-4697-9b36-d54b0d063243 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:5dff9518-5a9e-4bdd-ae87-595b93fba67a phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:2457f83e-aab2-41cf-a50f-6691cea7c803 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:30fc7048-cc4b-471a-8b7b-fd7c22993c3e phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:77d9fbac-a47d-44e2-856e-caf78056566b phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:dea092eb-327d-4b5f-a6d0-b206f2ca1d16 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9c2a32d1-07de-4fcd-a4b1-fe7cf47fb6d1 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:e22bc7fb-3631-41dd-ad63-2d5db35c8201 phenopacket.store:NF1.PMID_38596211_individual_7 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:19725b35-b881-4603-8dee-ebb2f09a0a57 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f24a6a9d-848d-4bb0-9158-c81783f46c2a phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:29021e1e-1cf2-4d0d-96d5-2761edd60aad phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:01389fe8-d9ed-4f70-becf-d26ad5647a5e phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0dc33980-9ab2-403b-ad01-8e0c846f0f94 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3e6a35be-c400-467f-9244-d0e9b1d56f0b phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f83339ff-dda8-48c2-a92f-0789808dadaf phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1a8b8144-2a89-4942-8c20-9efb46728958 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:34055b9a-fd7d-4ed8-a9cb-61ae08aed940 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a9b77968-ae3f-42aa-adba-4b1040c5e235 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4e03ef22-3f86-4c8c-8255-5337fc1b896f phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6ecaba53-beb4-4d31-b5cb-616a5310b95f phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:89d44446-394e-4d02-acdd-c6179ed9b152 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:19e3969b-8d98-4363-810b-5d915a8fdc61 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f925aa3e-4741-4d79-bb6e-2196a3e5edd3 phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5f999d0d-15f1-4fa4-aa0d-6672427ff07d phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f9fafea6-c7aa-445b-b0b1-ad84bffefeed phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dc285d18-c7a7-4464-8890-ce849b65e2d1 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1df47642-5eb5-48ab-ace2-58a71b43e790 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:00ca3894-a188-466d-8919-0c2930e7628b phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:88c74924-0fbe-43cb-b6ab-261134c99b90 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5f3c1723-b29a-4dbc-90ee-f7b5258da169 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:accf89ae-0953-4b9b-ba11-500b1afcda5f phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:79b1522e-a337-4403-931c-3afb51d9cdbc phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a909bfc-6f73-4daa-99d3-a72198a60aa9 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e818a4b5-ed52-45d7-9eed-802ff626cd05 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:707b6ec1-78c7-424a-a139-ec6db3fe4d24 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69882752-ce09-405e-813e-c3c97287ae52 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4fe5a9d7-0612-4fe1-b3a0-758547528826 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0872d6e3-154a-4651-9d33-f3f32f625178 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c10f4e47-7a81-4ea6-a024-15880df0c8b4 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ddeb2989-8323-4edb-8e03-08ffff8bbc68 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e4fdddc1-6be8-413d-ba6a-eb3185c79d82 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:184ee217-f309-4ff7-8f6c-f80453d2fe39 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac48dcb4-6a76-4b9e-9252-6a1cdd2a8a8c phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7b4fcca2-c58c-43a2-b9b4-9d40b1698469 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ed8aae66-9b25-443e-aaa6-46a7b7b185bf phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:78a66fe9-8892-47fd-ab76-c61781c49cfd phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5c7d5978-aab5-415e-b70a-0a782406d9b7 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c5243809-689a-4c81-9faa-0cc747375ff3 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:484386df-9d7d-4188-ada2-7e1bab476840 phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8d56e3db-5380-451b-b6d1-eb54f6cc1707 phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:3ea8546a-4b9c-4779-8c9e-eb012c26110c phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:32617e37-27b5-4461-bf2b-f2659999b0eb phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:017f649f-2e7f-4a55-b465-b01c2a8d8a55 phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:1bd907ef-814d-4a30-a288-6e8f8949a45d phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:22c27354-1ab1-483d-9d99-cb3b9ec782ed phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e6a9a567-fac6-4295-8e03-609cb930da14 phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:33e77774-5fa3-4dc7-b415-fd3ee98ed6cd phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f1aa49b7-7890-4b8e-8c8d-24305facabf8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2a360294-122c-4455-b4f1-a8f34e070bc1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e5875305-bd42-4e69-ad2a-0ee5532d0a47 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc86cb87-ff45-4d0a-84dd-36af6eb1b5af phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0582bab1-3ef7-4384-9b19-c806c1c9c69d phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e65ed7e7-1485-4165-9ebd-d7238ba70902 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d467b3fc-a6e9-4378-b8a5-941ed0f7edfe phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d758f82a-f2fe-4237-a7be-66aaabe4f57a phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:de413ea8-6e61-4a7d-8b71-141d87ed7090 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b280e835-0e24-4bc1-b42c-23e4aca13e48 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:37fb3a42-1246-48dd-9e2b-03206364151e phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95d1a8ba-d00a-45aa-879d-d1e9f1af4ffc phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db251782-6ad7-4234-af8a-3c4697d128b2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c62a073-5b76-4a32-a6eb-1eb6ed219f09 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:41335550-38ef-4d33-9494-36e91b324b89 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4022bbd6-170c-439e-ba2a-812f0af36a0a phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8559d8f6-a0e4-4e74-ab34-6d81d42c0971 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d232f7b-5a45-497c-b192-e35a979b2688 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6ea51665-3e6f-4b8f-8534-6c39615de2da phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa41f4a5-1c89-4f9a-be23-e2c688a4b99d phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5de0383e-9e70-4ccf-bf84-dfc87a4e0379 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b0a235fd-e726-484d-b8bd-981e5fac1a96 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e04a47aa-c691-4f44-abcd-c56615c47ecb phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c2b3da93-42f2-478f-92d9-5ea283bc8f24 phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:496697c1-6c1e-4c44-ba17-b61a04549c0b phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:e9109733-5910-4774-ab0d-0361c11f27d2 phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:8a8d330c-003e-42ee-bd7f-9541822d5edb phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:6eb222fe-10fb-4227-b10a-9f21b4534383 phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ea5c4212-664f-4632-a227-05ff16c4ce83 phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8c2eb2f9-bf85-40b5-ae68-9cd007f8e705 phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:1b569ab9-91b9-4813-b35d-dd1ed41b2203 phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9eec4179-8bef-4d63-90f5-9c08ca5e9039 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9c030929-5f3a-4729-94c3-591247e97a0c phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1519154d-a38e-4110-9f31-9306e79f2068 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ea7a8213-6921-4aa1-ae8e-790d86dc3b30 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:42e213f5-0d72-420a-ae60-4a541c35356b phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5b06a299-03da-4642-9ed4-feec351d32dc phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:91f97474-5553-402f-a15a-cb312b537e6e phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:487b9390-9371-41fe-815b-6e9c8855a827 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:90702f06-db1a-4e68-a850-6710612b48d1 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf64657f-d595-4094-a1f2-a77dc28522c5 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b4e73670-a86a-4e4d-8a9a-76017b058b1a phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e3ad158f-411b-4564-8655-f93cc2101204 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:5a57b42d-b86d-4f09-9514-6c50e026b7ca phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d64f56a0-f295-4677-8d4b-f676a75d8158 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:eccac68f-90de-49b5-bcce-15d00a1a238a phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c07930da-ab86-4339-8f01-525d6aeebbe0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f77d1a66-226e-4eee-816c-796a1e39087f phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8cca8c6a-60cf-4bee-8a7f-f29a3912cebe phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a24c98b0-5023-491d-8117-b03056c19685 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fce06ef0-8480-4390-8727-8938d5286a83 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2d6ba2d0-7dae-4ee1-894e-d675b151fa8e phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:acec5049-9bbf-4e29-b40c-20d9e5fa07fb phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e092c73-8ccf-47ee-89ff-f9412c00f708 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:54c5d75b-8051-4cbf-bd0a-0769000f9026 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c15a6d65-bdcc-4811-a9b3-10e983b8b438 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f91357a2-d31c-4d04-bddd-8053495bc5e6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:df2072a5-3f34-4e65-84fa-9a3ec18b10e6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:08ec1534-e420-4c36-afa1-6579eea700b2 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f6f3807-810c-474f-bf0c-5e9ead4176e2 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:26f07840-eac1-41a2-8c75-9214b9873a3b phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63c40a5a-5e89-42a0-84b7-0d248e9c0f40 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:82851a82-e142-4cd1-9f54-b3a0f74d0098 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:13991a1c-ab10-4e3f-9349-cb0476deae32 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1e4a8417-2448-406b-8cc6-b3306ea8b51a phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3eedbdc9-ef32-4ec3-9b76-59be6217617f phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a97b1b8-39a3-475b-9110-bb3401003dc0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a1dfe30-224e-46ad-99cf-a411c940fa54 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec18a198-0539-4693-81de-e22729ee8cba phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:74b2ada2-a4df-4f2c-985e-1822c02c6aa1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d6fc7ba9-ae8d-403e-aceb-45e517148673 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:ff039e6d-ad07-4ad0-b590-f65ff588c889 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:26077dc0-fa73-440c-a919-f36cd4d476eb phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5be87ef1-bfbb-4ea8-b4b3-cf53fa082968 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:eaac9019-c72f-410e-8a38-544067a7f7d9 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f4cea6e8-6325-4db6-ba28-1d26001f7ab9 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:83a4a146-e2cc-4999-b9e2-2ffa6d3e153e phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a398941e-2b4a-4596-ae3f-e17a7e0cf1b6 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fec18dd3-ffc4-49cc-9727-45d0d95f9849 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:24ff1101-cdc4-40d5-b403-776928721ee1 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2a39f65d-6cc3-4eb4-b59a-43c476816d38 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a4f59d54-357b-4efd-820c-9f00347263ef phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:da6ea273-14f6-4ce0-a9ed-cea7e0f55df7 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2735c37e-b59c-4365-97dd-ca419ae01c32 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c9fee576-cf1d-41cb-a6a9-695e8cf05680 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cee4fecf-de36-41a5-a261-41f541cbed27 phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:1a99226f-e12f-4770-a2fc-9d63079d4167 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:da833a6f-fa30-43a4-8988-f7c43fe268ab phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e940b823-85eb-47d9-83ed-6e27dc6febb5 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c98b2813-1bbe-41d4-829e-2a20b75227fe phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:33b281b4-2718-4f23-897c-4e168ae2762b phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6b190357-bcbf-4e57-93c7-41651863d007 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dd02c647-a687-4f85-b605-a0237755d78d phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c5e53ee2-6c40-4b06-863e-9d496c167bc4 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:05dd60a5-559f-4071-8c3a-99eeea25f534 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b595c88b-54ca-49e8-8b13-b46b30a7fab6 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fff89471-f461-4edf-9267-b25695d7beda phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8ca45cb5-0785-4b5c-ac02-e192e447fe90 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7cb535c9-2668-4145-9562-e85c4d2ed6dc phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5625d9a9-32f6-4c3d-bd1b-7bc9c4940985 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:202cf9ba-db98-4c36-8dc1-45a493668750 phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:f706e70b-4ee1-4a4d-bb8e-12e1b7e9da8d phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:9e6e88fe-6570-4fbb-9eb9-d320682c8049 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:ce4503a0-f5e9-4cbe-ad4a-79022d6af6b6 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:e0e84527-f31d-453b-9f17-8dd625eab0ba phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:bbac74c6-2af5-4df7-bd91-4089b2994082 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:0f818558-0744-40d6-8c38-fb4c3887a896 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:a11d7cdf-c89b-4113-9437-f1fb470a1efa phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:fbd7cab1-c31c-4050-ad99-21daa93c6d4b phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:673f1b18-8175-4fa1-a16c-330f0f9fe361 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:83a083b7-78b2-4abe-ab2a-39fdca8a3b04 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:d9bc8c70-ee5c-4f40-a504-a0d6a216c203 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e1b115ed-dd61-4951-af8d-80a22d02092c phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:9cd11ea6-205d-447c-9ca1-1eeb0a42b47c phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:1506f959-e0ca-4b39-a840-287f0c0c02a9 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:6c09026b-01df-4751-96cc-bd5cd69c5ead phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:f0dad683-b0ff-4755-bc9e-2d5711967f8a phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:3f94554d-1b7f-4bb5-b230-d7baafb35fb2 phenopacket.store:NF1.PMID_38596211_individual_5 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:2dac93b2-4a4d-4a28-8615-7ecf24dff3b6 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:86ba3d92-ccb2-4cab-aafc-20094e322b3d phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3977d2ac-af95-4113-8d37-028d59bac3b9 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b8092bec-6be0-4463-ba37-1f8faca2fb84 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c5b0165b-33e7-42e9-84be-22723b9a8fc7 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:03b4d0fa-1983-4a16-8991-3b9de6818990 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6a9f8ff3-b20e-42b2-a843-f2b838b27914 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ad2d151c-daa1-4890-8c12-16bf9776597a phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12ad749c-8c93-4769-afb8-8bf4f76f21c6 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa537d8f-a7a5-4e2f-910d-7a3773fe0d48 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:725a01bd-3ac6-401b-b7b4-b71c577d16fe phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3e7b184-e1da-411e-9cfc-3d8244481a10 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:055e9b70-e051-4acf-bff2-0d15b78b5b0b phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0c106c59-ea34-41b3-9b00-b7d016cfa5c4 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4e72fca2-5e7e-40f5-a89f-67b2e9312974 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:abc35140-35ec-4339-8099-a2bc88d90341 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:590ee047-ffee-4d4f-af15-8efe040808e5 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ecef6bbc-0d78-4099-bfa0-120f76838ccf phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4415e6fe-4b27-41c8-bbbc-4a005acb000b phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:19fb94d6-5d44-4901-9c87-5982455bf4ba phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a3b1a574-f7bf-47ac-9d92-e8e341831df4 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a6c9dc73-5077-40b0-91bd-c757a40f2c11 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e4a4467a-8a99-4672-a998-73ef0285418e phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:758777c8-3f60-40ed-bf20-4d1b369ff552 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:0d082e78-089a-4f6f-966e-af12e988a5a0 phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b7a2d622-55b1-4555-991a-88c1768ab053 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:61674ad3-ae67-4480-8db1-85fc70bb1693 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5f0a0440-92d8-4019-9b0b-50b07fcff7d9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f50f6c19-563e-4376-9144-78e6c24d353f phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:907f5ae3-ab97-435e-a5c3-da29d4f8dfd9 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f18417f8-2c84-4e19-b3d8-4ac624d546fa phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d148bd6-f4d1-47fe-bdc5-1ef6933b736f phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac01af8a-a32f-49c1-b08c-5b856637e8de phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:92a36d67-ec28-4d92-8973-584e6930b7b1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63b7de24-8370-44c2-b8c1-f936da46577d phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:118a96ec-5199-46fb-8be9-c7d15c35f0dd phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8424db5a-72dc-4769-b191-9c9c9a977713 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:31580ade-c58a-44da-b28f-1df00e8cc798 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:345080d7-64ef-4d47-a9be-c1ff44cef1f1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa532969-557b-48c6-bfe6-2c76a6b9632e phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02c6e8e4-6ed5-41c2-9e90-57b29fdacecb phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c3d37f0d-72d0-481e-abef-8f2ad19d5bef phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66eced1d-c187-4ce9-9a30-7a5b37198649 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ac48a308-ae5c-4419-8782-59cca5325dcd phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a59b08c-1b33-4895-a71d-c7042eaa905c phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:845b82be-5c15-4861-9273-f6f55805121b phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cdff5f51-4126-4a0e-8a4c-5cf85c035795 phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5b2b2445-bbd8-445d-8633-b716c26793ce phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:44d570af-a2e5-4d59-8370-62d1ee1fbaf7 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:e0f0973d-2c7f-4aac-835e-2abb671766e6 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:3b5bfa4c-daf2-4037-914c-5fccdd662d8a phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:1e7c1c74-3f4b-4a72-ad32-20cda35922b5 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:aee0d5c4-da35-4256-bdb6-8f556ec0e2ad phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38596211 uuid:1fac27e9-4259-48c1-b6bd-ec2a2073b453 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:0370c163-1207-4f4c-918a-84de0348294a phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:1989fa26-1e02-432c-b648-0db0a59e9d41 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:48b14591-6521-468d-bd8a-fc8048a56d2c phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:15ab1592-86cb-4f9a-98c2-4a300eb84f31 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:2d54e1a3-13a8-40ee-9505-28d0e00ba60b phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:394c895e-5ac1-448c-8360-b2175617cdd9 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:c76e05f8-3d37-4d0e-a9fc-089bca029650 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:ae309f40-ad66-4f7c-8d2e-bb7fbd932663 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:e92bb09f-8146-4c84-915c-535d783e3c01 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38596211 uuid:666cea03-cb58-4991-8a74-d52bce686d37 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:2eb2a3c1-9b35-48cb-99c9-9532413bd0e1 phenopacket.store:NF1.PMID_38596211_individual_15 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38596211 uuid:4b8c86de-ab7c-4981-be61-e2884ddc6731 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:c9a188fb-d8aa-4bea-ac0d-465be27166bc phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2ce77179-b1d9-4b5a-839d-e3554eccff0a phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:39d1a3b1-d7e0-4bf8-a69b-1bbb0529f024 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b81b3497-6da5-4a05-a524-f41661842214 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:79fc1f29-306b-49c2-9479-b90fcd410af0 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:eaa93ab8-5be4-494f-b0d8-68244a3eeee5 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c6b3fb14-1d37-498a-a010-b2aee76f7d52 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8b58d584-5081-4223-903b-275c00853bf0 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3252dd82-6490-4b70-aa12-4cd1c2cec0d0 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:92823a10-0b79-46ce-92fd-4182ead9cff1 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f23d1bcf-976a-4664-8262-bf185965a0e5 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c887298-85ab-4c14-ac3d-f3e7ecf7bb08 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4b9bb8ea-425c-4842-a3f8-4dbd885d6319 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:943403c9-20cc-4e24-96fc-ccacc8720999 phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:db0d68f8-2b2d-4bf6-93d2-0c414b36ba23 phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:eca08ce3-9bee-485d-b0d1-b95465264fff phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:5fd08e74-94f7-45c8-baf7-62f85441d5f3 phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:bc86e49e-59fa-485c-ba70-b473195750db phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a6ff68ab-a24a-438c-aef7-8e5924a3006c phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:52ab9813-c35d-41a6-b6a0-3c92e8e8a120 phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:4b3f6f35-08f6-4816-a238-5c212bbf8af8 phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c51a376c-9875-451f-9583-aae78ed21ef6 phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:d25f1121-a4a6-432a-875f-567451efb6d9 phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:f74b8ce4-c228-4f43-8003-c6de036f6141 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:29b89e96-7e98-48cd-8eb4-d68c499677da phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6b032f7f-1b9c-4b11-ac7f-ec8207b2b863 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e6fcb78d-f11a-4030-bf63-1968f0fcaea4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4bb9982b-8a00-44e0-b19e-03a87230ebe2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5e7be05c-2dc0-4556-bee6-b0face0c757d phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a309840-adde-47c3-aace-7a5786b33dd4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68c89da3-7842-4fd4-b963-a9f1aa54d997 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:800fc062-c382-4364-b7e4-6cb1d633557c phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b1750cdd-2c7d-444b-aea1-929aa2cfd1c0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2ae1ad18-ba18-4b8e-9835-fb01b7c7cb12 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b2a3e260-6a53-4565-9547-9ab3f8f08223 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c361738a-014a-4cd7-aa68-bf7bb2081f1f phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:823c37f1-4846-49fe-bbeb-c19be73cfdb2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ccd2b42e-349d-40e5-a934-88df134cc4a2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e5b54c20-55e9-4820-89d0-1a3f3656f6af phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:501389e4-0544-472e-9ff0-4f8165834af0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:81967f96-55b1-478a-b710-8aa20b353a56 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:14a85edb-d85e-40c7-9dbd-1b22cc68db8d phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7a68e9a3-30a1-4e5d-95a1-3f523cfcc587 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8f41468f-c788-45f4-8009-ba2ffcd62f88 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b689c642-44ab-4031-8451-b96eb466aa53 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d77659a9-b30f-47ab-86d2-673d95eb9b3c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8de244ef-29f6-4d67-910b-4e1d7643a760 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:94d4a307-c2ff-42bd-8c5e-de1ee5f8c381 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:66bbff4f-1d29-4093-8437-02b397aff291 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7ffd7cc4-7bf7-4807-a175-5ae0c12d0555 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:301d7dfd-305f-4076-a000-50a30be88c5c phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:02edb755-1bcc-4142-84b0-3715e028ae7b phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e05a97e1-0eac-400f-ac00-cb109241275d phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a24963e-2974-4298-986c-e0e8fc74cde8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1198100d-3a2a-4b0a-b252-d1b8fb81b3f6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28ff78e7-935d-4c65-9467-39712ea28aec phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d15b0cee-e405-4cdb-8a5a-ad3cc52f8d12 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bdbc7057-5f4d-411d-a10e-e86fee7f87d9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d79f7a41-039e-4e4c-9da8-6d056227a8ba phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70c6c649-bfc2-43d4-a830-32d75891cdf2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f2f4d3fd-3d39-4280-a6db-7e9a1024dad9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:134ca1d8-79a9-434f-a76a-f963dabcabb3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ee3b8f25-e819-4b27-87ee-e0bc0b976cb2 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:133248a4-8c74-47df-b87b-9b479f9140cb phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c103c18-d926-49d8-8c38-99ffec49e8fb phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3a1bccb0-f7e2-41bc-adee-4312578be34b phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:751d8f21-8599-49ea-87cd-45eb2921f6f2 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8ec69239-bb66-4c71-a06c-7a18b8bb27a7 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a8749289-2719-4b5c-95f1-82d3570ee8dc phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:532c0bd6-4d94-4e8a-8389-e04bc8b5def5 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:881d3cba-090c-46ea-af71-959166102a72 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8d291ed5-5582-483d-bcb7-a5b9d6adddf8 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aef46b96-781d-42a5-8196-b4629cc39ff5 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8ec32003-fe6d-4efa-a203-7e4f43374e8f phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f0f4f291-f6e7-42b4-b235-f4d4215faabc phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31f207b6-69c7-4953-b144-cce6a2749d7a phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:32e11b40-651d-4721-a4de-c45ec182bcc0 phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0349e056-1715-4fb0-ad0a-56fa489c6c0e phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:aba5825c-96e5-4da5-97df-7e7c4d7e9986 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6916e820-bb34-47c4-9746-1572c848edb6 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0f18ad83-4ec0-4edf-982e-2c0886b2cd0f phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a5e7834c-071a-41c7-9c21-d4675071bedd phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a8ef2a13-26e5-4d67-8d92-0602ada0f2b6 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:469bb64d-59aa-48c3-9ad3-8c5f701dbd0b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7fe87a78-1078-4163-8219-b3d58afd2896 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d2348b91-638c-43f0-b991-146a585af454 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9271261f-13f8-4e25-ad94-9cea01bfb730 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e862bd89-5d56-44ec-9b53-691396393cf0 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:76742bb4-b892-4c9a-a712-8b684f5d2ba8 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b657b1ca-30cc-434b-aa57-c65dfd416d7c phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:533abee5-0f8f-4a5c-b864-2d66f51251a5 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:55b1b0d1-0bb6-4ac1-9d8f-03e33ab287cd phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:15391c6f-9f35-44dd-bbc0-cd1d68c0878f phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce71374c-5f26-4e86-a74f-cc6c0a28854a phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7c3204c0-77fd-4803-899f-8d3625307b98 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:85b2b7d6-bd6f-4cd8-9731-6e4f3606be4b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0a24eced-98e5-4686-9946-5d392e67ad35 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f055d7ff-cfb0-4e76-b924-9109a4f54101 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:04d1abf1-1b21-4e6c-b70f-7117f5e4c607 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:326bac83-9130-4cbc-80b0-cfda3f274a57 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:27fdcee5-02f8-4f16-a7eb-2e05815cd436 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0bec1dc0-a2f0-42aa-b560-717e501fe290 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28852bc6-b5d1-4659-b322-1bfdc900a91f phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f5a3e5c5-4194-4e31-94a0-8da379e367bc phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:07e757f3-747e-4ec0-9973-248b62a9ab83 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:80c67ec1-4406-44bc-aa97-75aaa169626e phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b20e512e-e9f9-4fb6-8679-930271a5a250 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f24e53d0-b6b5-47d3-850b-d8e693cc899d phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fc8195c9-432a-42bb-8792-ab67e7ad794e phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f94771cd-ed4e-447b-8792-bd2ee8fa0976 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:32188afc-6736-46b7-9f57-63bf6be9b425 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0460d993-17cb-4e0b-8823-288f0960a616 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:db89da80-e1bf-4ac8-955f-cddbeec2b905 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:20384bbd-c7ea-40c6-a48d-9325c643bb7f phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:481c3de2-8044-453d-91be-0220e61223d6 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c6de97e7-9b8a-476c-a743-2857ffbf942d phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f5a87af3-19a8-4126-9d39-96c2a1494b7d phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:362e855e-b5cb-4fd0-ba72-d18947cb996f phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:16bc4cfe-42b5-4d1f-9959-7786c4e1d330 phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:bee5030e-3753-495e-b4d8-fa1f78910ca0 phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f1af8dbe-5e91-4943-ac86-20da3bc1dd75 phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:7ab4aaad-f2d2-4894-b70f-0a68f54bef3b phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:882ba227-5b11-4ddc-b904-11e80c1eddb4 phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:5d838d73-f392-4b70-8dd5-7baa3b2069e0 phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9e566f50-d207-4ed1-8e44-eb54510a0771 phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:5bd5aa76-6df2-42af-98d3-1bc8e67a97ae phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9311da30-421c-483c-9b0e-ecf887b97eb4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a1a39b3e-33da-461f-a6b3-ed5a790d7f3a phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e1a460b0-9fd4-4ad5-8983-494f5bca7dc7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:85fc8a3f-76ac-4716-82bb-ceeabdb8af9f phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:da586d15-cdb1-4f1d-a8c9-9ef6383c9d21 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4313d2da-5bd1-4bf1-9ced-3bc3848910d0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bfee0010-3b97-4226-b8ae-77394b029b14 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5d67f9db-b23a-43ae-9aab-84c93f28eb1d phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2651cac4-d506-43e6-9a01-0c2a61b520af phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c357c413-f8e5-4da7-a9ee-658b7cb61843 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6c0d12b-b5ab-408d-83e2-607a4948386a phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:47944a6d-f031-412d-aa88-ec4b34930e09 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a6caf67-5f51-4a0e-9da9-bfc539981ba2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9266b35e-09c3-4ff4-8591-396530e1c325 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d76410a-8229-446a-9c33-b420a098272a phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3b74491c-4eb6-4275-b277-9fd6d18e604f phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:694ee986-d0b3-4f27-8f7d-efcce3359dc0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9c931ed7-eb70-4de9-b545-061645cfc58b phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d740f3b-c83f-4290-93b2-825f25ca4799 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4344b11f-4a21-4462-9f1a-8cf96faffd4c phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c905470a-f809-42f0-b339-bde090e2b253 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c2d13455-c0e7-478c-897f-7220b0889d7b phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2a38c978-ba90-4d15-aa5c-9371f51666ee phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:544410a6-ebc8-4e3d-8102-b44f986a5a82 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:654887af-4705-4b47-bf3c-d3e5f6ca433b phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:4e5329e8-5c59-4c19-a89d-8a106eb18358 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1cd59872-1455-40f1-91fe-3612d645b696 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:db3b8789-caaa-406a-9b28-1de6fae90d56 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:68a8e091-5bb1-4834-856e-3eb821f291b4 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4c8ee6b3-14bb-4ca0-b74b-1940f7e868eb phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f126a725-ba29-4f10-a4eb-07a0734ee3d7 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:888c9c23-08d2-4ef9-871c-5b2efb217831 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:edae3946-8711-446f-ae4f-84834d54a8a7 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a24a4083-80de-40ca-98e5-2a30cb3b9b9c phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:03c1a9cd-3f97-46eb-a5d2-9a02a7c9c146 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:86102b23-513c-47cb-941b-c547fa2cf975 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c4fc619f-faca-448d-9505-7cac964af887 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b065283-e722-464f-8846-0f71fd5ca8c9 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:338897d0-c19c-441f-9d24-f5f0e268517b phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:979fc395-43fc-4a2e-8db9-62e5d6320ba2 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6ca0c4bb-627b-41c5-b4f6-52266019a0d6 phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:e00cf057-98a5-4551-90be-8c63264737c6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9ef1fe8b-72b1-441e-b67d-88c404e8ae49 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b9403c1e-ccaf-4cda-910e-1e33c60b961b phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:24d12ad4-779d-4d59-b9ce-32a5957984e4 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:33964c46-2fb6-4ced-af21-c94f17084bdb phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2b1b9fd0-57c9-4a6e-8218-8e966e03d949 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7b67d8a-a2ae-4554-88cf-53670197c074 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2539ae2f-c7bc-4e81-98ad-3a1f03759a58 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:63988371-c376-4892-89e8-af02c5effb80 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f7ce5c51-cd47-4b30-b480-9debd933ab93 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:13c3588b-2c1b-4158-8e89-04b94a3f20f1 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4f6a6c0-5856-455c-8907-aee4f1814ed9 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0c47031f-f058-4881-b65b-6f4d54c84512 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:22d96c2e-0e1d-40a3-a752-a7b8348fa05c phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eebf8554-06ee-47df-9031-f25ec4cfab55 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70c428d4-36b5-46c9-b1a4-c04fa18850a8 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d4d8d75-d301-4505-838b-22efd1a36a8b phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:65ac058b-0b3d-42e2-b4cc-c48fbe3ada80 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4cd4762a-9cb2-48ee-8451-dcd710f8c860 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b72320d4-7c92-40ef-889a-499950b366e9 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2df73cc0-f7bb-4de3-9f16-09a479b96f0f phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2687c845-c9c7-4332-affc-17795c634e13 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d56aebf-cff5-4e2b-928a-2609c3f041ee phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:34f6df44-bc3b-4630-9683-c998944e4543 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c99b1d3b-92bd-4e55-978f-e4d84b1ef9c6 phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:9fc875be-430d-46d0-a795-fe2ef11e4292 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:df608eca-3bcc-4a51-bda4-28d8efd6c8a9 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:ec1a3fa9-8d3c-4f74-856a-da0b1777b8a5 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:104642f0-6731-43b2-9956-bcf82f13bad2 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:cf862226-fc66-4fda-ba3b-9446c914f4c8 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:1fea2b4b-77c0-4d63-9f9b-c7993b270208 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:11682052-b4e8-4ffc-8e5c-86ef2871e6b4 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f346fee5-ce2c-4b31-af99-ae00da28af3f phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:c755d0b5-1dcd-4a81-b235-8a916aa7bc22 phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:310ac260-f208-4f89-8f93-0e0b68b42315 phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:29ae8e4c-f6d4-42fe-abb8-4ab40979e6dd phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:91d58e30-da7a-4eda-a469-1150eeb4bbf3 phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ec17a7b5-57f1-4f04-9aed-605d93e8089d phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:18750181-12a2-475a-a67b-5d8f66eaa6be phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b13c0ba2-daa0-4179-8341-5d0f3772c282 phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:047f09ab-fc4d-44da-b7a9-0a9e0556b7fd phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:91caa59f-2e43-49e5-822d-dc23f891e14c phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:63765f14-bc67-4136-a769-a177974676ac phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fbfa7cd9-fe5c-4d7f-893b-ca7b9355a86c phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:73a453df-2b60-4227-8fb7-166f07069d8e phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:462f7325-b6b2-46a7-a0a2-204350b773d4 phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:c26f52a6-d10e-40be-b65a-9266c34a2623 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c5aa9fa5-2c43-491e-95ef-deacdcca5e11 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8a65b8be-ad13-4ba7-b7c2-b44a4bb4ee94 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f64f0da1-0bd6-43b0-9363-e72f5266f9f1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9bfe1f5b-065c-4ab5-afcc-e264885f01ff phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:afce2998-2c1e-41dc-be85-236439d0404c phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d5a9fcdb-20d5-44cb-8fcf-92c3c9ae7bca phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:188d4db4-17d0-4dd4-be57-22e09a469883 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a154b8e8-6049-4baf-b60b-25b6648fe668 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cb5fd0ea-d81e-46e0-9195-2ec74e2d0fc3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b1a3bbcf-e8a7-434c-a3a6-017bfd1c7633 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69be4dea-0403-45a9-b476-ed780b2a0ae3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5dbe3646-999e-4265-896c-8a20b31a1cfe phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f2747270-958e-497f-bd79-ed89d96e7110 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2091e010-9b7b-4d06-b19c-846028c13ac1 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8f3158f9-27e0-49ec-b00a-225dcb185942 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:558667e1-ead6-42c9-aeae-b905d0fbc681 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:56b1a751-07a6-4fb3-9eb4-45ce399fa20e phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:573bd3aa-372f-4492-aecf-f029beebdef3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f3c53877-8aad-47b9-aa2e-514ef250fb52 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:152306cf-d9aa-4ccd-bd48-23a9461d2f1c phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:84617a66-11a4-4245-a33a-9435e70b9c41 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f59dac5-4622-4e96-874a-d45153cbbc80 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:50167ae5-f4c4-40e9-bf67-2c33a7745379 phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:30ed58e0-2364-46aa-8f67-a0b764d8537b phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7db8c654-1795-4cb0-bb70-1e3bd8d89c9f phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1165cc57-7526-4896-bdef-eae05aa02aeb phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e82b7607-4647-4a29-a9a1-e560f54a5991 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0c840728-7c7a-4ba4-bd60-19ca0562779d phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf29a4c0-2e89-4ec9-8e1a-aa4dfd7bab88 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31774224-5215-4d0d-a02b-2ef987d2baf9 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:719cd472-a093-4c4d-97f3-7e6bffb48fe4 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:56450cd3-c538-418f-b441-4df6d67c5d99 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cdb1ac99-b5f7-44c3-8bc6-3e3645a63cc8 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:69c584af-ad30-4b99-9140-eb231d239031 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e31668b5-ea5f-4df6-81c5-9a4c9983d21a phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3870646b-042c-4bd9-a432-18a74b48aae1 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:63670d8f-73fa-404e-884c-961a1b11216f phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2a41c195-eaaf-4886-9249-1699ca2637e4 phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:36a12782-130f-4b75-aa7c-ed09675dc87d phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b94a2e8d-fd5f-4725-ae6c-1e3dd89209b3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:7c6c3401-7920-491a-bf2c-fd0779d17fac phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4503584a-f3a9-40bb-9ed4-f5b351737e1d phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d77187e4-f851-4179-bbe3-281e5f21b29e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c93e0aa0-20b2-4850-8a02-700acfe27dee phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cd95f61c-0e94-4350-b15e-4453ae56dc15 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8fbfd765-aa99-4d31-bd38-a8a66cfe287c phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4fd9d566-f958-4cef-9ca8-a3167c6f8a24 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:34a87f57-bcd1-4448-a9d0-494711e43e24 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dcde4504-f567-49b3-baf2-d5ca34973f55 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d99d14b-a163-47db-94f6-34211e45c040 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1324a817-28a5-437b-a117-e6b0ee131d7e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c4240d0c-771b-46cb-8ee0-b9c3108f4337 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c95741d3-00d8-4527-aae9-5acb8bcb1d62 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a12c9c68-305c-4aed-ab04-db928f214381 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9effb0c4-486c-4f2f-b656-2c9e42770d39 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea5ed0d7-2dec-4f31-bc74-2d458fc2002c phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:74e9655a-6627-4a5a-8c7a-cb83f87b7bd3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d9a87733-14ba-4d3a-a755-4f2276899758 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fd11aae0-f65a-4ada-b0e0-c04b2c4c9d6d phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6d8dd1d0-d7af-4ef4-a532-da600a29dada phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9fdf2001-e143-4839-8fa9-1dfe9db8f575 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c4fb00df-b2ef-468d-90ae-2f523acce5ad phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8c38e9c7-00d8-4d56-b7a0-119a2c6ea5de phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:664ada9d-197d-45c9-9b3e-af8f0573ddec phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2c29c7f9-5c9e-48b4-bbb2-ff1aec05c894 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:8fe299d8-dc75-48d1-a79a-d15d82d5768f phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:9b3ba1dc-b149-4f59-bc01-1ebdf47bed1d phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3aebf006-ab83-43fd-9224-f566eb7d3725 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:6ace6958-2fd6-43b6-8e54-2aca2eef7d47 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:69a8742b-9b21-4df6-ae77-f87103602950 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:1392c149-bbfd-4cf2-bd05-4917594979f7 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2f0e2d9b-9afa-4ca2-b70c-32f8d4c0030f phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ed0dc809-9b9c-4b2f-bf23-6e92f92e66ff phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:974b1f43-5a07-4aaf-a6bb-cbe3f5e064b5 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3aee03a4-2b57-4cd9-a2a8-529c442be903 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8bb17825-e6f6-45b1-8043-37a129a4609e phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9072e944-12f0-46db-b670-f717dda1568b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ef561d8-bd56-497f-9b96-ec4a5eae9b10 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1130336d-6a45-45ff-82f3-07147fbc9973 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4ebc35eb-5add-4f64-ae3f-032214375ca9 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f756817d-a3d0-42a5-95ec-46b3a69766af phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2519dcf7-1792-40db-92da-5e45cac924b9 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:44bc19a5-52b6-4212-a322-382fbfc421ce phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1998e628-729a-4e3d-bd0c-0c7a0dd13fd8 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f10ba660-e9bd-4dde-954f-445d7745942b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7c71d64f-b99b-4d83-91a4-a6024038bfc7 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e86bf19b-7c66-4ddd-b7a1-b8428a9a4901 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:338c447c-6e6c-4d06-8fdc-a7c47d51ddd6 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2f166e04-7f7d-4cbe-a46e-45e8b531a6f8 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cb2d704d-cc51-4241-b908-12ce675ce847 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1028e139-baf8-4003-b7d0-6239db7cd371 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9d3d75fc-e207-4ade-a227-2467d040abac phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:06fed0b3-e5cf-4001-8241-26a660b6d174 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:12a816fc-70e2-4d6c-bcc6-3acf65344f10 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:75f5295c-33f8-4922-8a6e-2da19edcb05a phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:66d3ccd3-b7b0-40cf-91be-c4cf8c4f7452 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:59e875ef-7524-4838-94d5-379b3c333ba7 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:b65cd9c3-15f5-45c3-90cd-94bc4d3a1964 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0d63882b-9775-4cb8-9395-8d75ddd48360 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9d1ad969-8ab4-40b1-8a70-d83fe12ba4ef phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:deff69cf-84f5-4749-9104-3a74df40dfc0 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:029704db-283d-4795-8f62-f162e96b48c2 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b26d0345-90de-47f7-bae1-eb31d7494b6d phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:afca67d4-69dc-47a2-a67f-5a7e577cdd97 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1307629d-d66f-44ae-ad5c-a3071a4276f3 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f72c44ff-101b-44bf-8254-8954345434d0 phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9b83bf6e-bea3-46e7-90f8-b2970787fc8b phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8bb83c6b-4275-4d55-b622-e15f9b811b5f phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ec649550-ad85-4980-9e1d-28b04c3adf0a phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4cf74f5c-635d-45f9-b342-87b4a4344209 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:18fc418b-1141-4fda-ba9c-3467ed46fe2e phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:56b92dbc-feee-4247-8e59-4bf970b6d21e phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:85e02e4f-cfcb-43b7-a5d5-90574eddcfb8 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8204dd0a-d249-4d66-b507-c144a127e012 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:92ae5140-2678-4e66-9010-e5f502c4a77e phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:12e112cd-e3b7-439f-87ef-01579a079238 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:01c753d5-a574-4812-8478-15073f923475 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:15908353-39f2-462a-9ebb-e6784f1225e9 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:65b3a474-93e3-4e86-a2c7-52eb14316b28 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ce1cab77-921c-4cf1-8ff4-e0ad4e03380d phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3b41665f-aca1-40e7-9a87-dde6a092d334 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:31a1f03f-0a5c-4a98-9d29-014389560754 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2381b38f-b0f2-4c5c-9355-e001e5ea4366 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ab1ef485-4a1f-41ce-9070-a77a682098e2 phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:67a41e03-9a67-497b-9fab-3a9560eeb46a phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:72a60c9c-2f49-45e5-a844-0a3fccd72456 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:54a9559e-02d4-41af-b117-f1d8c9080d62 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:ee60a5ec-2e60-4d31-b55b-37897e7b2756 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:69d0e1c7-dda7-4867-9dc4-f9b020457cef phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:feb05798-d48e-41af-9b1f-089d337b87ea phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:68ad1c53-1419-48fd-b5e3-5b227f294823 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:642091f9-ccf4-4105-8457-50d677c75991 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12d553c3-eb98-4f03-b24d-aad3692ca12e phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f7d04d5-c420-4e49-a25f-c66eb08cd06a phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c09b2729-31b2-4375-b646-9aed1241d650 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:120b4887-46bb-4167-87fa-50ca4c9fc270 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:17ce2470-5e44-4848-9b55-69f03d8330a8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:35f3a6e9-8dd0-4ba8-af27-ad963efb1c3a phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8cb6e5c-f2db-4292-a059-01a0e619d2bd phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fbdac839-9ebf-4440-a534-baf91f5841e8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2fbfb27c-e139-4bf3-bc59-2c04cee0c84e phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e3648cc4-dc9f-4163-b05d-e9de13de8dd0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f2bab024-1c7b-4e62-a961-2169f6022bc7 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:09681359-17e5-48c7-872e-adaab506b203 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dfcc50c0-66ef-498a-83aa-5051805f5694 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:97bff9a1-44e2-42c3-b125-f4bf40d3accd phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b0b981c9-f543-4a22-9dac-a0a8cbfe7d6d phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1462508b-463d-405d-b123-bff39d483956 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:48d99671-e82f-4523-b413-0d34b02f2473 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3f7e9379-52e5-425f-b537-920887955902 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf927893-e05c-4482-8354-22bcd4cb9612 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c8624083-8c59-49f1-b4d1-82dd5e111bf1 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a89d7b38-1819-4c62-ae50-e8808ad22f9f phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0685ca43-011b-4413-a505-04541ea23290 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d2f0daf2-c722-475e-9165-2cfca12c186f phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:42d4108f-7def-499b-9398-a0aa297537ca phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3c2084b2-5725-4613-9508-c072d567a95a phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:ec7509cc-9d45-4c7c-ab3b-5fa4562627e9 phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:98524e06-8792-4f64-b6bd-a84f3ab22035 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c0d72b35-7349-49a1-812e-495b229d381b phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5549eac9-be68-4e68-add2-437e4cf091b4 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:898af01b-0c0f-47e2-b810-f30fa87ae9db phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:3b88075d-e73f-4f47-b95b-2bf9884ea4bd phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8d21f985-55f6-4699-a4c9-01df9fa84c5a phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0033680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c8c80671-fb9b-4b01-84b3-15fc6bcb1c6b phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:69ef8e9c-9839-45e3-a5df-06fa591d5b84 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e9e3a334-17a3-43e7-b3f8-51c89a99c5b5 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6113a05a-30dd-40f1-b688-f063683fd72c phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4422fe4-d3e0-439c-b3a5-d83b4435d5c0 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dfedc625-33b1-4405-91b5-7c6b09174150 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b97df229-cfff-45e2-9746-4e9b2e322e78 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eec63cba-b520-4054-8528-1c88c6df1228 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:36c4659f-4e11-4846-a81d-d9eecb691392 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:379a42c0-c18c-4132-a697-cbd9181d4edb phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3493d2b3-d469-417e-a4e9-7e7584cb7f05 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:bbc0ff14-002f-4600-805b-8b0119de8f42 phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:dae48a6c-1b41-4256-a83c-f80adee998b7 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:fd4c9e18-3b7d-4f7f-8283-22a128d0522f phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0f245a58-824a-4d18-b2d9-f05ce63df6b2 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:e4b5dc9e-d318-4e9d-87b6-407428c1c9f5 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e66c8a89-8834-4075-8d22-28f30ac8a1ce phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ed3a6050-8a24-4c66-8aae-a70ff2b3c792 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8d9d59ec-2f23-40ab-82bc-a91c732f89a1 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f5a80184-2edc-4519-9dfc-c7e391921434 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3e194363-78c1-4901-bf78-b9bc414aa555 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aa0b343e-e8f4-49d4-910b-01df6da5421e phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1152fc13-d754-4386-886f-42830eaa3257 phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:48eb77ac-8aff-4144-9879-54b2eca8a47a phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:8f310bf7-3dce-43e5-9cea-6d49bdacfd1e phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:cf211700-ae20-416f-ad67-4aa4aa8c171f phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0d0cac72-fc8e-44f7-8eca-c65326460a97 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:fd0639d1-4cff-4f8a-bb0c-b9e40db4b11d phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:dbf4d8bb-a878-4769-95ba-100506c4028f phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9a7597c2-21b6-494d-b4bb-3b3e5cf7706f phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6a727cb5-511f-402d-b3f6-4636b0ce6d57 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7877a7da-acbe-4b65-b7aa-d6a1bee95c39 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:05d26cf3-c9b8-4ef5-a7fd-2d303f5f9b3d phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b56b06af-d8c9-47bf-93f9-c75741efeefd phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2bbe5b18-cdaa-46af-916a-3cc5b7525f15 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fb7e4bde-c69a-4f55-8a26-2c9d22461260 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:01ab0dcf-918a-4141-8efd-0d51577f2f21 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ec225202-e4d4-4c1f-82c3-73e7197b7510 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1a97b6b3-f9dd-47d7-82ec-fb41532d7367 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b3940d9c-d150-474b-9ae5-dbde42a67649 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8863f6e5-f22c-4690-a156-9f385de9c22a phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0ffe45e0-e941-4a5a-b3cb-93a8698e5825 phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:7e85dd1c-88ce-4c7a-87e9-30410cbdd791 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c3ba2a9c-8fe6-44e7-9497-b622fe30d9d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:49d83bba-12f1-4b59-a283-500be1fda66e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9ee7d88f-e3ff-443b-864a-b86f5d4ea0ee phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:718a20f6-fc41-4cd3-988f-6d10515cf858 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fdbda22a-fde6-45b5-a01c-717211562448 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a91d1cc7-d5d8-407b-a869-180e67172563 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:12f8cbbd-334b-4240-833c-02d4e2e1df0e phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9e642a53-89e7-4ed1-a09a-10613d99ebd0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97873714-afba-40d2-823c-fa979011e2a6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0ccd6fed-d834-4185-bb0a-2d9aaa11e07b phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:84dff199-9580-42bc-9ca5-a17287308dd4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2a575761-6d83-4fca-9ba2-39a145ad8151 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9fda6972-99a4-4d95-ab94-9e0abf5dc2e3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f4714d54-3a4c-4ad5-b95c-60d22d5bec95 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:01ac7ddb-55b8-4a75-bbbc-fea122d08916 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:920c6c31-ae07-4dc4-bf6f-9ecb897e5886 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:97ba9c06-4612-476b-a99d-b198a68445aa phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:030f20f4-be48-491a-80cd-2a6d4c5dec0f phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b7736663-8cd4-42cb-923e-4fc81b2e1847 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:85d4d18c-5b12-4c0b-8ec1-6f1d1068fbee phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bca25325-2525-4f8f-9866-602cb733acaa phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b09ca0ca-5239-46b2-8862-6e3195e8692f phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1023f3f8-a67a-4caf-9e84-5fda90a18f96 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d64f536e-262b-44d3-bd7d-d92d9c16dd5e phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:d26b7f81-8e66-418c-aa06-6baabb566b11 phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:200e9a6a-bdb8-4b87-908f-4f881a9e65f1 phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d0ea712f-51f7-4e9b-aeff-4dd7548d97f3 phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a19d5a4a-58b2-4901-a040-fccbf38a1695 phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:c99d610c-d8fc-4a9b-bdb6-a971655024e0 phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f975cd64-7a72-4b2e-99ef-e1acd2c8b38f phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:0f5d4b5b-7daf-4c4a-857a-7491227e8daa phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:39e75ce8-3d21-4ba6-a52f-08c05752f1f1 phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:3e3364e1-f848-48ac-ad7f-aa9549a02abe phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:dba15f4f-5c8e-431d-818c-294fc05b583e phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c18acc88-805f-4325-8bd2-73853662d2e8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:39366742-a0ec-4121-94e5-302388bf96ff phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a0316448-91e5-4948-bd61-b1829f4cfb24 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8aabe899-d454-4457-910b-e1243ed06946 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a4238363-f2f7-43a8-9e4e-76f07925a8e1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3da55ad9-7712-4ffb-a8ad-b6b6e5914c75 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:33ebd876-36ac-40cc-94f8-2241c2a5ec53 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e6353338-b8a2-4140-9c42-80ec72f8b001 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1de898e9-64a1-43a9-be44-a439ff498c95 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6c0714f0-3e69-47e5-8dcd-05922ca404de phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b1574569-a9ae-41f7-94ee-75a0b9104c29 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3e9886cd-268c-4564-9d7a-4070d55449e9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:da8e4634-907d-4e40-b834-aa2a33203d64 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:676ccd8f-5208-4eb4-b422-9d900ed746b9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95527a88-09c3-4dca-af2f-0cd5f6f2face phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f51317ae-db7b-4425-a5c9-88498fcdbbb8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:79e42140-d907-42ae-b3c1-dbc9d42c8398 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cc10e214-8bec-4893-ad6f-7dad35bdb7ea phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db686c43-2620-4d67-ba8a-a49e2faebef7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:820c7788-9b63-48db-bbab-a362906cc316 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28b9e94b-8c3d-4a3e-8d5e-aa5487837029 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:676f3d37-2d9c-4aa2-8bec-7a925d0bc64a phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:233e3334-4614-4a92-9cc2-2b9e96fa07a4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:eceda0a7-6fca-44e2-9918-f663d97f8a60 phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:7e048eb3-be5f-4a21-826d-bd60b6910133 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b521333f-ef97-4733-9594-f40152b68601 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0a088993-3281-4d24-b9c1-908374297c92 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c09c0c0e-db7f-4dda-a07b-5e4fba2bff61 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:622634ea-8982-4b34-b02b-0470ef15fba3 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:351583a3-489c-4d69-9d0b-0012619ed9bb phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b9305d26-8d03-48bf-8b39-12d7b82fca89 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2159ca38-1903-42a4-aed2-29c16a8879eb phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1dc616d1-0e51-4ef8-b7cb-8aa41912fbf4 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:33286b14-6bb5-4324-ae31-5e91a828b723 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:716b2136-3dbb-49be-a118-dfbe00506114 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6953f3ee-9404-4f08-9573-49007fb13f99 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:40988dbf-7e37-4f5b-8fa6-b02e880071bb phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1e27620d-05c7-47c3-b3af-83557fe0de93 phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6aad7372-6df6-48e8-9172-3d6a69365dee phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ac8597e7-3782-4f55-90d0-58a0936dff7a phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3ab79396-b861-41b2-b8eb-a25ad38c3580 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:d6e710c1-2a3f-466d-b15f-7bfa976c5f35 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:73edbc76-bcdc-47ae-8bb9-008d3e581b7e phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:96412e64-a882-4184-aeb4-0bf4c8db3398 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:040091c2-819b-4281-840e-9fa787acd352 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:5d0e3c73-c6d6-4cf6-ab25-63a39cce1067 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8fd5ad74-28f3-4447-8ec4-22761be767c9 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:ca6da14f-b4ae-4d11-b6e8-c5a259bfe7e2 phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:7511705e-7e04-408d-b464-8592b971db0c phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:40561393-9ac8-474b-b9a4-dfb3725ec337 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:14740dbb-f812-4caf-9f87-5b87417628f6 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6fe81e37-0f6f-4e0d-8154-6ec32af059ba phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c607ab9e-21ee-4b25-be8a-23153679af19 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5f52ca3c-aec9-48e5-88ba-93a04b978e1a phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0c26458d-958b-433c-a2bd-360dac53da3f phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b164042a-5d9b-4751-8cd9-fd357cdd0bf5 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fcbee640-d950-4212-8154-0906946fd62e phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:44b5bbaf-11ee-4b9a-9b53-3f0252dfeac1 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:aa59ec61-0d78-45d8-b198-b955a99d3851 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3cf04bd9-b07b-4f43-af40-98fa92b5ac58 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f1d1fbbf-91ad-4479-ba13-e7422a7aa757 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a38b910d-6e87-44db-bbf8-1529234c57f3 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b278798f-b38d-4e2d-9535-57fbda99738c phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b547dd0d-89a0-406d-a14b-80d1b31ccf57 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:4ca5e9a3-b7be-40db-aa3f-9957182957e3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:928243a6-721e-4608-bc21-2c99867b0514 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0009735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:dabbe692-10c7-4570-992b-c5c759cd47ed phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:64296a7a-0db3-4967-8608-11aef1e5f5e8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8762ce39-a8f7-4982-b8c8-1371757a0289 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:21ad774d-8089-4aa2-8080-d2d8324a17f7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e551abeb-52d6-4c47-95af-11c983cd77c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1cc07d3c-fe3a-4f94-997a-4886a49711f3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4f130ec5-8d31-495f-ba91-055c7df92264 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:65f68dd9-0bb3-490b-88ea-8739b31aafd2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:711a3463-2d00-4906-969b-bfd6014e2e77 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1d09c967-2f71-4add-9fde-33a266273435 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:762c968c-bb8a-461c-91fd-81654b1d8697 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:302c10ef-20fd-457a-8406-d6e67388ab98 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ce454aab-f58c-4fed-a49e-841e03ecc502 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e8c72eef-1edd-4aec-9b81-2987fa1f77f9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:555d475b-d786-4974-a81f-5ee312f17c43 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d9d8720b-8e84-419b-9a7d-fe868d92cdba phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d3370222-56f1-487a-adf0-36d9b06d8627 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3abf9bdc-1d4e-449e-b53e-7a1743eaeb52 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:70012773-7c44-42c6-a2e6-503dae77e80a phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ab38fab9-1a89-4eeb-ae79-64925a2d5957 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5a3df349-d182-4bdb-b54a-1df8ae6680e6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:ba7c1533-73e1-469f-b765-79880c2e3455 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:2d28d849-190c-4405-8f68-ccd22a9e546c phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:27122b4f-009a-4852-8bd2-7677f15276e8 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a875d8c-b709-4bd5-b4a1-05e28e86bab4 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9a18b522-2ff9-4811-bf3f-763566ef964c phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b6d83b46-4090-4c77-8939-1ddf16aa9ee2 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5fc67ea6-5a76-46da-a482-aff7aba60b5f phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8eec28c4-11e3-4fb4-a412-ec24da2ad723 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f714af79-e404-40f4-b242-9de01993b885 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:607e3481-7f40-4f88-bf26-fef6cb35da73 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:eedcc00c-0f04-4985-bd41-caf74c9c926b phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:22946888-d957-423d-b0d2-8c759f2c26c0 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d917a61-dc34-4514-8309-b53be7736173 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:dc0eca2e-2a34-470f-a327-77f76e863355 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:511dcf29-e10e-4ce8-9158-d1ba69501f57 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fe473680-9cb8-4114-9887-e32c460fd16c phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5ff501aa-d272-4a7f-a000-9f2185d24e25 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:507ba1cf-5246-4423-a6e0-2fe7b2e0d0d9 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7dca67b7-3c17-433e-a688-6b23377d23dd phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:72c8d8f5-df35-4e44-9dbb-af53870ed32a phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fa641996-cbb1-49df-81dd-a328a7dc289c phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d22cbab9-bd92-4bd2-9408-7a95feafd010 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:286329bc-e82a-4693-9436-aabcabfb5e90 phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:30951ad2-6e81-4880-a6c2-a0207bd745d5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:23e16e92-4746-40f3-b098-c68ab1f7281d phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:da1a237b-c9ae-4cd7-b525-93dc577469aa phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:111019b6-1fc3-40fa-b844-5d41deed052f phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8a40626b-90cb-455c-8500-19e0852d21ed phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:00adffec-b097-4c87-8a3a-0fc7bff87797 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:450115a4-dc46-4f53-b121-e0e42402ca22 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:01a98e2a-77df-4115-a018-882046ca63ec phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:970faed3-dfb9-49b5-ac8f-1305ebc93b84 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4686a81e-4ea0-46e0-8b5c-5138e8a97299 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c7a8db6f-90c1-465d-bf7a-2c4faa30b901 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9357abbf-f96e-4a6b-931a-422c8e3a4462 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fdf4fbb0-1e8c-46a8-a9aa-5fe5af2732fe phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ee959ed1-11ca-4485-9521-7d60785dac24 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aebdac38-43af-4c72-9945-5bf633ef6dba phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec26b20e-a00b-43bb-9d1e-cccba7875e26 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:aa4a9bad-6939-480f-b598-bb697fd05b5c phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1ef5a3c1-07cb-471c-9d7e-d4f51882a276 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:012c1ed9-07bb-49fd-8fa5-6f508f85f300 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d28da8d-233f-411a-9347-2b8596339e57 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c1e1d914-fa97-4fb3-bf34-840fa85326b2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:22c5acdc-fbcc-476a-8165-087731727619 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:342139bc-b43a-482b-b893-53cf3847cfdc phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1be8f8b8-50cb-4c56-aa75-7900c5cd2960 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:cbefc66b-8f89-44d7-bdda-cb44e3be5647 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b658249b-1a3a-4341-aa03-c92fb70977c6 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:06511274-16e9-4c41-91e4-8a360b40413a phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cfdd5f5d-b157-42da-b30a-dd8cdd575bcf phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:cb03cbe0-b6a4-4845-9919-229660d3b8c1 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:889381f5-0438-4296-88a5-eb7de963105c phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:41b462a2-8565-4863-8486-c630982795fc phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f85d81f7-5031-4ffe-bae1-7a6d2cea10ff phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c954ac05-006e-4e78-825f-dd3c1a22c264 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:20de67a4-266f-473e-81e1-3394e013fabd phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d5a2e42c-8f96-4584-9f62-3d3b4391f699 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6008a34-93c4-424e-8014-7aa80586aacc phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0f009d29-624d-48a0-a6a6-afbac1b8a4f2 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e81a416a-591a-4732-89b2-1f41912bc0d2 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5351b434-c754-4927-b7a6-686f9a159089 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:12cd5ba5-4ade-40d4-869e-9540aa4c4ecb phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:74880adb-6194-430a-a600-1a2184528d43 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b398d732-d4fa-4736-bd97-72e0d72da5d9 phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:fbbfa466-727d-42e1-835a-542cd3e2de1d phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:ef976d15-eca8-49bb-b37b-b0226b0664bf phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:653c91ab-8316-4a6b-815d-9fa41c66166b phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:9b21430b-27a5-4a52-ad32-6c6fb3e47c78 phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:8f381438-1d67-4530-93bb-a32f3dfb7a1e phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:d06fb94a-125a-4ff8-b9d8-33fe3c932bd1 phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:b0f99b4e-e104-4401-977e-23be87c0eaeb phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:185bb588-4cdb-41f6-8653-41a6b8f54b88 phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:871a7252-0b0f-41f3-9fcf-e10df9094898 phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:f908eb44-6d98-40ef-8506-d2ac2e88797b phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:fc2aec14-f28f-472a-b4f9-31229adc3a0e phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:582a31bc-0e26-4b89-9be5-37179deea158 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f7eb706a-b249-4ad8-87b4-aaf790eb0a34 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b87baf20-8d45-4008-88b3-604e5bfaba46 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d865f872-b4c3-482a-94f8-1004fba55392 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5dc95cb7-a953-44ae-a276-261c3820dbb1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2070e21b-2862-4e56-8240-7bb31825ee2f phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:943d81cc-42b5-4816-8be5-c34acce0eb0f phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:079b4dd6-f248-4867-afec-c7a086d822d6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c39d8c64-4979-4c3b-9b2b-eca57b046da9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a5b20af7-0724-4215-a691-349778034a52 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:91988f65-5fc8-4bb4-be36-01536cde86c1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:45960595-5609-427f-a8a1-d2515eecc876 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a605e395-04e9-4475-9350-44ed363c48a6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c167e17b-fe4a-41a9-b5b4-df4ff6c80d89 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5933177b-560f-4afc-b47e-b14b8d0863b9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a25a7c61-0038-48e7-9b3a-fddacc2ef0ba phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:db88e606-a669-435f-b54c-68e37d750eb8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea75588a-021e-4d51-a2cf-179c361c0d64 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8595af68-d241-4d05-97a5-23bc98735cbb phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d1cf969-877d-449a-94b5-7f64a4240e58 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5e60da2a-db52-46e1-8ce0-a79420c5ae6c phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3821e921-24df-401e-8a33-12fabd0c1d39 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:33476fd8-1641-44d9-be71-80039a476530 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3aa09c43-60aa-489a-bb24-6158311d3212 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e68febfa-fa1e-4fa8-bf11-d13ea2849458 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:46bee038-d3f8-4962-8326-7e61d4a2873d phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2dc78524-b753-4f3c-a1e8-a844168d6dc4 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:68738dac-c531-48d3-86cb-e0cd8c654fbc phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0316c952-9ce2-4c27-b83a-0b78035779d3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:47bc22f9-3d59-4197-9376-d877c1d2cbc5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:95570f4e-b3ea-4148-89f4-a1a8079f89f0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1da2cecc-e4e0-4b26-97a7-865f9fbf8469 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:367f4417-a521-4645-8cf3-59aa40d06689 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:a5582c1e-f996-474c-82e4-48c775c48a09 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f05c2777-32b0-46ec-b19e-f89047c314c6 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bcb225b1-4d30-42dc-a7b2-896d6609d91f phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1756ed2f-3eae-4ba1-8edc-a423ce60c21b phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:bcf6570e-6797-4bd8-b8f2-1f13682825ac phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:628b88c5-17e8-4e2c-a3b8-77660df0aeec phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2a2fcf20-edda-42d9-a209-ab57f42bbbf1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e0fed2e6-9466-4070-a533-1dbe079a6294 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6fb7c9bf-2aa4-451c-84a2-e4c779bed702 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c4c4f7a1-f4ed-4cf4-a94d-97ac3461c3e3 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b9416522-add7-4dcd-93c9-8cd054337808 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:28d45e94-0f42-434a-b085-b8a2f9d79710 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:c8e6cea1-eddb-43c8-b486-8fffcac7c428 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:13b52ed9-b1f8-4c7c-aea0-651e332ba093 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:e625ab0f-175b-4ca0-9cfb-1ba8b5026d35 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a0780929-ed5f-4ea2-8b89-1d2704758255 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:d1799488-7ed0-4856-9a93-c8189ac1e593 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0fbf4291-43ba-4e83-baba-7e8f36a436f9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:269cd7a9-6e3e-464a-b797-c342c72fb908 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:67bfd433-515d-4f1f-ba14-a7b568cf3008 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b0f7c81f-4cea-4e26-8d44-6fb205cbaf79 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a31bb09-d170-43de-b7dd-f62754d85085 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6750b170-b7ed-4721-8fa0-a076624f48b5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d0eaf521-2db4-4f58-9a93-f7358c43e688 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:735b15fe-0a94-459b-9064-0c5811156a8e phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9c18d740-f75c-41f8-8b79-7ba7355b7af7 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3dec5f9d-15cc-44b8-8d4a-dbe69206d0a0 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:1f2c6219-e2ae-4887-8639-43ad5c74c1ef phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0031d900-f775-4f6d-80fa-3ed393e2bd75 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f67e7ddd-b38c-4a1c-8c46-21673cf23568 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0bea8309-dee8-4fca-ab25-53cbb85c9667 phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:50b1adf6-a976-44e8-9223-36db4dc2ab6d phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:971d37f7-c805-477a-b935-414321956056 phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:66ee113d-8957-4964-a840-1ba1e571a9ac phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17160901 uuid:9048fa86-cdca-4332-9475-5df785e5520d phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:7a9014c7-1f82-4d68-b464-dd70f0d75880 phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:80938694-b4e6-42ac-8bcf-f6de6f1b6ecf phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:219a6d70-7cf0-4f63-b3f5-280fd0faecc3 phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:eb15722b-01f8-48ac-b160-b7851aa9ef66 phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:98383f3b-2107-4683-84da-05a05881742f phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:f1846645-ebb6-4b91-8e7b-993163bd8e16 phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:bc32e373-73c0-4f74-9828-931d648d1cb6 phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:27e98cdf-cc56-4879-8fab-ff3916a953f1 phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:6e92630d-cde4-4f92-aef8-579c6d22566e phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1de3e328-942b-446d-98e0-1db9b2c5c18b phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:68d4d84d-5dd6-4ea0-bb47-a48f3e4aaac6 phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:c9ca53ef-94ef-4ef5-8206-e39f3910d147 phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:497a3d8e-28a7-45f1-92b8-80a174803bcc phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:d5223fd8-357d-4f99-ba9d-37606a46cd73 phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:333fead4-aac6-4cfd-b61e-17b60d4af6fd phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:c4979860-a9b7-41d1-936e-e5292f0bff22 phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:fe108afd-d9ad-4596-ab50-46080d82ab32 phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:a72a95b7-b32d-4a75-b26c-b44b3d37124d phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:26742974-2773-4655-83b2-cf9a7a14034a phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:b43ace52-13a3-468a-aa6b-644cbd8715fa phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:8d659813-732c-46cd-8e36-168b136cf244 phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:59186b9c-ecf6-4af3-906d-6fad9dddf9b8 phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:99d0bb07-5969-4ac4-bcc6-85eaf18b5faa phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:1fcf531f-6dac-4f3b-9b8d-4154f23da6c0 phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:70fa3fb7-7ec1-441a-9440-aea01e8cc22f phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:f7c4950d-2aa6-4285-a704-4eea318c5c43 phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:ac7af90e-65f3-435a-b2a1-ffc1b5202a90 phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:9a9ea06c-7410-40d2-aa31-cf0ae251bf5a phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:e8598176-b973-4928-a27d-d056f4649cb9 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:62c6e232-458f-40ca-9a1a-3c831cbc92dd phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:523362ba-3778-4ccc-bfe6-f2574c615f08 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2beb3ccb-57ba-485a-8251-8cbd290cb6f4 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a758dc87-1fff-4400-9f67-de205a2e9557 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e8b17b7c-2889-4de1-8ba4-b8b977fcf54c phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:8c449887-b374-4664-870b-8cc0bf864644 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1827dfb3-e42f-4874-9014-dcd802663ba6 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6637e297-e17f-49e9-8a49-d54232cf4758 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6f5125d-9bd7-4fe9-b1c8-3d44f6cbb9e2 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4148c22a-7755-4cb8-b033-da9566842108 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:914da9a2-8974-4c79-b636-1b3ac8f2cddf phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:96b0bea3-7826-4e54-ac5e-3493ff11bf2b phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e1c9346d-1e30-400e-93fc-d4e607d87a7e phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:2f6bcd26-b297-4357-b752-a32670dd42b5 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:44389f59-7108-4256-b765-bff9e74cb7d5 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:6fa5cb2a-14d8-4ec2-a648-cf36ea9b0ff5 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:fef857f1-77dc-4a40-aefa-77ac5533f25f phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:211ee7d2-80bf-41d1-b75f-74dca38cd70d phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5a91b46a-2cf8-4f88-8b45-18ae1856a9d6 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e6ab8c31-a805-41f7-b3cc-a90eab1a045e phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b27d71e8-5906-4721-a1ab-7d487f254049 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e4bbc9fb-e32c-44e1-9fe7-a827ec1454f0 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:fb08a396-aec2-4cf8-a6ba-aec9b86f9ce4 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:994d9f8d-9af2-4d98-9cf0-50ebb96cee3a phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a7fe20f1-fa6d-4136-9c1c-a08f679dd5d4 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a162a98d-6b3f-4bba-aec1-2efbf2ca9c17 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:19aca671-aaab-4f57-afa7-2686b03e61a2 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:20351af2-dc76-44f2-a7c9-bf85976f031c phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:9c06829a-3bf6-401e-a400-a9187a15e023 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:02475124-6abf-4342-9070-60db76195cba phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:13c050c7-1352-446e-9b38-d11630fdb544 phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:26855629-c68b-41b7-a636-19bb839405b2 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e3325e19-6016-40ca-a218-dc3c8a33a360 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:afe5b2b9-d036-4ead-b29a-0d21de9b7dad phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:61c9abc5-64af-4ba6-aa07-0cd352f81c6b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:43dcad4a-c6e2-49ba-a15c-5b653868a08c phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:2d8b42ac-2e75-4413-a36c-db8caf0c7f8d phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:231ffb1e-8208-480e-90f0-fc07e7ecb145 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2e7cf154-acf1-4570-a593-d90528519943 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:fc81640c-0a56-42ab-8683-1498b66d9f95 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9950590c-b49f-48e5-8605-9d1e619f8901 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3634c243-5444-404e-b78f-c67c39d52e90 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:99e35bca-e4e1-4b40-8855-bdabb8a6945d phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:154163ca-f7ed-4a39-95ed-0f6d0316f769 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3559e5fb-9e0c-45be-8676-c6252f161f51 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:7e48f502-8d57-4aa7-8c34-4ae8c686c153 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:87b3052c-ed98-4c03-921b-610d5cbc5740 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4a008661-1204-4ac4-8cca-3aa4937b43b1 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f86ce0f9-8dbe-427d-8e1b-fe6ca59077aa phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ea774861-c9eb-413e-9eac-efa35df6830f phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4d36809a-8ece-44f7-9977-ff25e7fdb7e4 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:51e0e5bf-4323-4386-bf78-8892c8d4ed5e phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:5cdf4c8b-2e31-45d3-88d5-f00a3140e791 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:9e761ff7-77bf-4352-ad72-807d805e207a phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:1b18dc0d-f56f-4ab5-9096-d533b10c3a4f phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:68471333-aa56-41d7-8bb5-ff841f249380 phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:69d34fde-2699-471a-a60d-e08750ea0779 phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e7de2e4b-e650-414a-b255-12e3dfde4ebe phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:34b5ef5e-524f-4e95-a77a-9f9fe992eda8 phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:27cf2074-fe11-4388-b5aa-a8896fbb86f2 phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:adcbd777-7c4a-4914-be2c-64494dc0befb phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0eeed7f0-3d00-499c-a7ce-97b46006affb phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5990a6d7-4209-41df-8ff5-1bc712b2324e phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:6f2395b3-8098-4c37-bb94-f2fdaf3e07bb phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:fab49cb0-283c-46b9-8ddd-5fc1b256ecba phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:75a5e9d8-34f3-4356-8b64-f383b633b360 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f8686ab7-1f09-4cc7-92d0-d856df073c5a phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:22c60f73-10e1-4758-8c18-4113b029183f phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cefe0f93-211c-4495-b2a3-dc84254a6880 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:4caf52d1-4769-4288-8f9c-1e6da0e50546 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cf425bb4-7336-407e-85a3-4f2b036e1b95 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0cc2b4e4-b270-4e7c-ab75-97e1ed14b799 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c85272be-5c4c-4df4-b7e0-4e9d2af9bf92 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:7b8b0aa2-b3a5-45f9-92e5-038525b83c91 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ebadef94-e8a6-45b8-8be2-dbcb205278aa phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:5b9d736a-2918-42fc-a0a9-0782bea65e1b phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:f3dab718-c812-457d-8052-10ad72e2f196 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d3859cb4-a160-4e50-a513-7ea6d316c2eb phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1e1a3edf-a5a9-43ad-a42b-98984f105ea1 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:dcba35c3-35ee-43d9-942b-6e6a5cec8b78 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:07e7e606-bf93-44e3-b04c-85c17482a042 phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a87bbcf3-8731-4a53-8034-5434104ba41a phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f397c4df-faef-4d8d-8e1d-bbbac8f8e0c3 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5cb07845-1d99-4f65-80bf-4f3bcede4ba0 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:5952b895-19fc-49d6-979b-8f3772dbeecd phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:42c72855-b1e5-487a-a386-86d54606fe3c phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:48138e98-8410-490b-9496-ca9b43be4602 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:92910ac9-b200-4e8a-846b-ee9de919de50 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ef006035-eb75-4dfd-be5b-1b86dc90aa7a phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:ec68ff80-7902-4c74-bd4c-2e2fe2dcfb2b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0d5cfd24-18cc-4954-8b2e-b1d4ad9093af phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5551dd97-4e9e-44a6-8fcd-5ed3bedd1ca1 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0e1bca6c-1fc5-4906-8dae-078632460e1b phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f68270f6-02d1-4da3-b8d2-63379df68662 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:dc3a1fb3-6a6f-42bc-b1cc-8d2614c6ab4d phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:216cc707-4abc-4278-aa66-bed31d18fb70 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a514e042-e819-4cbb-a2c4-e5662c38ddd5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e4b5071a-9c1d-476f-91ba-e8a5e549278e phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:c70283da-5fe4-4813-bb23-9b2ef088c31d phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:bbda3b87-c1e9-48bd-aacc-8380483286a8 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0009734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:90bf039b-35a2-4215-800a-f777b421f175 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:8bc8b99d-fa8c-4f9b-bcbe-6ac7d6d08fd9 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:62a6c73b-abfd-495a-98ee-b8ad52d60d0b phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3f4e2047-87ea-4d4f-a185-dc8de0c2321c phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:f343e7ed-10e0-40c0-bfe8-7a9a4221ceda phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:1f49e72a-6369-4ae6-8be9-63751e08cafd phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:5388aad0-ea6e-47da-bd3e-682c94d9029c phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3374daf5-92af-4104-96ac-09c7fd07c436 phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3ea88e3e-6496-4a22-9a17-d41b92ce3bcb phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e1ac102c-3723-489d-ac6a-14377e8f75be phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:c45ab431-72b1-42fc-86ee-fd1cf1b254cb phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:ebf43fcb-cc43-4c72-8c9d-033fadd69c02 phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:955d8769-5f17-4c04-ac63-a2067b98fae1 phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:81511f42-df0c-49ff-a6e4-cee680d958c1 phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:10d83259-f48b-4cb2-89da-8012270e0756 phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:bc153bf1-03b4-4e00-9cad-2f7575cc8f79 phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:994dab38-0381-467e-996f-b2f22a3774a4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:613cc28f-12e0-4a4c-b55f-d0969f7ff521 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8e8f3696-61df-4c1e-867d-0e1ab8e1165b phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8770054b-90f8-496a-b266-ba498e03bb6c phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:a16f3c05-1638-4428-90f1-c5d871c645d4 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:8eb3139b-1ef4-4872-9538-87299bd1dd14 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:4b408752-12c2-4b54-9e7f-716bc0d2b548 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:5f141977-6f05-4381-a0ac-1c8a44692b51 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:88c5c09b-e3f2-4bcd-9bf8-963873b08cb2 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:42f45aff-580d-4382-8198-8fec5dddd142 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0ca4bbfb-badf-423b-bf45-9d4802c058b5 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e3d4d3f4-ef2a-4e32-a374-9ed6da47cc70 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:cf6abbe7-b64d-4f72-9393-de7f21521f86 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:2eaf7525-f1a6-4f0b-a58b-8994ece20ced phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:e6e3e165-361c-4ad0-b038-e0fe30cd5336 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:4840df41-61bc-43e7-ab83-4aa9e6c33205 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d34a86c4-3473-46f5-8108-2ee35c2bc85c phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:0eb25b03-d8a1-4449-9344-997884378a0e phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:27a41c6f-afc7-4c88-a8fc-a64eaede5ad0 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:52fd04c6-46bd-4c28-a60d-034b361f13e7 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:543f5c9a-0cf8-4f3a-8eb9-6c4ce34b845a phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:38231514-6989-40eb-b146-215fa4c83323 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:064c5a17-e159-49da-9b6e-7f5972bee628 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:d0f126e3-e54d-474d-841f-77bb7b881003 phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:b2ae9507-b515-4b7c-ac89-c381e00a7e32 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6e51cdfe-4c6e-4754-b29f-1d9d284f0076 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:239aba82-4604-4a21-917e-cca94e5b9452 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:9dc5702b-ac60-4d13-80d7-069863b404e1 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:a32b32d8-59b7-4811-af06-4431f328940d phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:20b34316-3dff-434c-8020-daff07a1d8b4 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:6fe6b7ed-5071-4ffa-8793-c261d8dac3c9 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17160901 uuid:399ac96f-ffd3-4ac0-8004-7ee6ddc75277 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:bea5e71b-b0e0-4190-97b1-7f6af13b6c62 phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17160901 uuid:4b69cfde-a8ef-4b3f-b167-50dcfc47f922 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b04cac1b-6794-4232-ab7f-d105df1ae3f4 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:e4b63c3e-4e03-4e14-a2a8-356f93ce5d57 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:b03c6092-ef69-4558-9c26-5ab63cdd64f1 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:0edbd0f6-b42a-49ab-9b7a-08a0c42e8450 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:9de333ea-5f19-4e00-948e-ef67526b8a81 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3d3a8221-6dec-426d-b9b0-0a50de2bd8a2 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:90fb6cf2-3644-4a80-bbd9-85bc247d1fdb phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0003002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:b723d30c-fdb0-4043-b237-e85c43fc2889 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a9fda1d-e85d-45f1-b786-86d2c2ed5b4e phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:14e1fa25-fe88-48e3-b4fe-f2ab3be2808e phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:696005bb-2d88-4cfe-8932-e599a1ef0890 phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_phenotype HP:0006743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:59e05db4-526e-4012-96cb-daba251d61ac phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:c9ce1bf0-cef4-4b6f-bd77-5f483c6d694c phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:a35ffd6e-9c41-4ccd-bc5d-0170e3feece3 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:0cc0adc0-3ae8-48fd-981c-69bf6e9a7cc0 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:afd9ab3c-0032-43f2-bc6f-5f2b5fa47c4a phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:0c7ac829-a06f-4b17-9443-25c83b849da6 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e1432329-799c-4c4d-8107-8a9962ccdaa4 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1bb26457-2761-4e69-9ec2-33c490eac570 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:cb7204f6-81e8-4e38-8caf-352d11677e17 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d3c12b46-7c3a-467f-aa42-a6c7b3099d0f phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:3d0eb7d7-b84d-4003-ab07-2cd5bf7702d1 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:38207ecf-134a-408f-b603-c10da717be79 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:94455871-b128-48e3-9241-90851206f953 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:8d4bbcd3-af9a-4a0d-94a1-280670440ea3 phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:60722b66-9708-4239-873e-5b9e3a1e2168 phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20513137 uuid:5d835cdc-e999-429d-b9a6-d62859021159 phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:bd5d53e7-53c7-4b58-a3c7-982262720a9d phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:2a480b43-50b0-468f-9c53-9c707b4f40d7 phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20513137 uuid:84166d02-8acf-4299-9523-89ce622420d9 phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:65d98772-2dc0-4ffc-a3e5-f85ea5a65f29 phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20513137 uuid:7805d9c4-9c34-4431-8094-b96c79d3c9c9 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:f9475896-8139-47fa-a2c7-d8f009c7c492 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:d1a0fce3-f044-44e1-be39-530b85f291c6 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e87d5402-fd02-491b-bab1-5d7e01dc1939 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e0bbda3b-f727-48f5-b591-78c0ed1254c3 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:a1bb2fab-455f-450e-bc0a-6260417dd783 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:430233b3-59ae-4875-a07f-564c3b9e4824 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:77594af9-eb28-40a5-b556-5d38d631136e phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:b3c2cf0f-2807-4097-9996-0f084cbaf715 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:0135b9df-e7a5-4db7-97c2-bef38311d82f phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:f35d0a09-2409-4380-82b7-0a55a22c21b5 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0030052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:06b7dd36-4cb6-4d67-9412-e4302df43f6c phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29290338 uuid:327e86cb-8449-4065-a58a-ab4f52fd8d7e phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:997034d7-033b-4a17-9bec-5d0aac814cf1 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:54e273b0-d125-4a6b-a4f2-ce51465c2f7e phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9e5f0b87-a6e5-4c1d-aac1-eae8df4fcbd2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:74c8d35e-64f8-4976-9b1c-581be1ebd0fa phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:85b626e1-e3ef-41bb-9e22-d4872aa193f2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f6a4eed1-b2b8-45f1-9bb3-2182bfac3c67 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:61e229f0-4bce-4e92-a3a0-7b0603c07df2 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001920 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:393b5585-8abf-42ef-945c-2f64ac85552f phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:d79bd093-1c6b-42fb-b4c5-ec989a2fadeb phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:f46b5119-aa0c-41e8-bc0a-7c8555a09037 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:3a497192-798a-4b0e-80b2-f8574247f57e phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:22eb8a5c-fee4-41ec-9836-a5bd41833f84 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:6f3f28de-5bdb-4d3a-b11e-18d99a785b47 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_phenotype HP:0001718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29290338 uuid:9479399f-885c-4540-a717-36e90778fa91 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:3051c59c-318e-4701-9eba-c3e68a7bd328 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29290338 uuid:084cf9fc-256d-43af-adfe-aa4c941dfbe9 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0001480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:9d940f74-e82f-4619-8263-5da01e981201 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:77b11201-c0ea-4221-a10a-0e001cdb4b77 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26178382 uuid:786e93b3-e70a-42bf-a153-1be36612b78c phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0001067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:b2b09b9f-8120-4e93-a055-8eec680c8ba5 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e69deb37-8bd8-4bcb-a736-f0ea32022036 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:80f23f07-af8e-4e25-a712-893fe350e2f2 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:420ee359-5406-485c-9d62-edb22b909066 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:59d5f3aa-541b-423a-ae38-1cbf2a63d4a6 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:1feaac78-affa-4a6d-83b3-9cc3b409e370 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:62b85600-1c8c-4457-90e2-b2f18bdd021f phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:e3d392de-12be-4be9-a66e-bb253c05d008 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0012032 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:036022ab-93eb-47f4-a741-2addbc99482e phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_phenotype HP:0009733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26178382 uuid:d87bbab8-41fd-4bfc-9061-5e45d0a49815 phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_disease OMIM:162200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:86a04327-2067-421a-8d45-b3acd8626cda phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:has_gene HGNC:7765 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26178382 uuid:a7cf829b-594b-494a-8304-9ab42a7a4080 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y9M infores:phenopacket-store PMID:36256512 uuid:bd3407a9-ec11-44bf-b5d9-67135410a9e8 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:83e5d4ee-15c1-4c9d-9328-d13610a4f7ad phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:a32126a6-a5af-4fef-9d6e-debadf35babe phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:d716e42d-ba1f-4e0c-abec-9b3aa7543512 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:7461601c-ea2c-414b-9001-818aa1eff1c5 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:47bd2382-7acc-4e86-a97b-0bf09e1b04d2 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:d5f95bb2-a105-443b-b82d-d967749c71b7 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:467e76cd-3048-4f55-8935-22e600a5da84 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ac33fb8d-ee5a-42ba-abcf-43351a6dc741 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9f09e2d4-bc63-4273-b40b-71ad0a345ae9 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:59912ef4-30ba-43dc-a5df-1f9c4266e1bb phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:2601642d-bf46-4b7d-9d6e-0edfe580c93b phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P2Y9M infores:phenopacket-store PMID:36256512 uuid:85bdb6c3-7f10-42fb-9b50-f74df7e03d02 phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:48ebb3e2-5f52-496a-b82a-c70039d58553 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36256512 uuid:74ea3f50-9fea-4850-a70f-06da306c4044 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:8c8c5130-fdd6-4026-9fe1-bd89ee61d2d9 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:c1b3c3a6-5ec0-48c6-8d67-7263917caa4d phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1535567e-ce95-495f-bf80-f8f139c3e624 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c49d22ce-961d-4d6a-8f8d-ac23ccfd00d4 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:cd726594-5313-4363-a730-26456cea5d5c phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:79209a35-5f02-4b62-a5f8-c44c701a8abf phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:01bec100-566f-41c2-ab8f-6a3b98f394fe phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:19fc26a5-23dd-4d35-aa8c-9a914a697b10 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a31016ac-1cf8-4895-9395-41bf25d6e0ae phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8033ab1e-9a2d-4954-87c6-a1f56c2ad924 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c730291f-2b13-4e76-9c2b-9cb141ff7ac8 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:b0d99085-d238-4634-8eca-d57ab6d2ec6c phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:319c6a28-14a6-4c21-8d53-b6da786c12a1 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:5a11bc59-4005-46b2-a6d3-aa43b4f5439d phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:7afe3f9e-e565-45e9-b1ef-751de60ae207 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36256512 uuid:e9830d1f-a93e-432c-887b-6895252a0fe0 phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:55552438-2423-4533-8f93-2b2e4780cc11 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:36256512 uuid:ad1c2755-a492-45c7-a26f-c0e464908c22 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:726c66c5-d965-4088-af8b-1e497f138523 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:8f6cabac-efda-4a02-9d1f-6f19599d09fd phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1424188b-66b0-4239-94ff-9c9baf81af14 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:843b84aa-5bfa-4687-b91b-f98065706d21 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:10f93397-0565-4f20-84a9-009c80c5041a phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:d0a03c0f-6d33-4a55-b572-471467839c58 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a1d2d4cf-058f-47c9-952c-4968d0e6b5e2 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:884c299d-bf1e-456a-b46a-19414bb69f62 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:f3c78fa8-fc7a-45b8-8492-974a3ebbd3f2 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a24c293f-4217-4211-94e4-89a71a5d1002 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1df65ac0-68ae-48b4-90d4-7b8ff05493f6 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:f2e9b7ae-ed4f-4324-907d-7a1a890d8f27 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ddfa96b8-6188-4cdf-9da9-6604667644d9 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d13d36d4-c9c8-4af9-9e59-64c021aed6f2 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:559c1a23-b4b8-44ce-ad48-95d7631cb0a1 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:aff69ec9-d308-4939-aa0e-5d3df078c522 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:87d31baf-a1b7-4f60-8b99-c742250ff931 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:eb8a1f12-e5b7-4d77-858d-6a6f3c351d27 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:36256512 uuid:d82e068a-54ec-422f-8132-6e6ab278e454 phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:fd423320-aed7-4c7d-be30-7f0e7f68573f phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36256512 uuid:f9b7762a-ed1d-4dae-95de-241ad0b8b1db phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36256512 uuid:b9fb1813-9d8d-4411-9c2b-aa761190c2c7 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36256512 uuid:775363cb-a566-471d-b4f0-af6c6e06c076 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001941 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36256512 uuid:24619358-c1f7-4762-9d3e-29e635c29894 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:ec14e307-6c85-4a00-b588-b21a5634322b phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:98f04df5-93e8-424a-aa08-8f9741181a58 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:b7997b02-e833-40f7-8655-41b62819f2d2 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:fdfed10b-a127-473d-84e3-9af7ddf4ee6a phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:0af9e84e-dc26-47f7-af93-9dd37143fbcb phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:f622f66b-9362-4ac6-906e-1d370814ad6e phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ab181b90-f290-4d94-a625-6e7bb3179469 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4b4c600d-524e-422d-9d79-1e0c4dce5647 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a1d9b41d-4b1d-4d94-bb34-98ae3e905539 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:3852adf9-48ce-42c1-baa8-011523dfce65 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:aeef75b6-ce89-44fc-8ef3-cf11c881c227 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d0450084-3ac1-4711-9acd-8e24cac7f011 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8e209e33-6048-48da-8ddd-0ac5f900fbb2 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4329eb56-aff8-4109-a991-b9f8a0683ab6 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36256512 uuid:433e4661-de38-4dc5-988c-3f0024accb57 phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:b1e9bd21-cef4-41b0-b59e-18f1bb1993ab phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M14D infores:phenopacket-store PMID:36256512 uuid:5b57e37d-a822-4060-9620-884eca950ab8 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:4376e691-b99b-420b-b070-c35959991120 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:06ca0560-fb07-4012-9d32-d8f9dbf00dd1 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1a59b503-eb14-4c30-a634-7495f589c821 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:87675671-e9a0-466b-b127-c848622afe99 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:11eedb4f-ee29-405b-98b8-f140a29c756d phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:7ec3d5c9-39cf-46ce-a0b5-4242ccfb9c69 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a084c11e-ce0d-4b32-9f63-66cef6abb1f9 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:81d913a9-8765-40e3-aa49-f8d37e3f9384 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:3bf8ad0a-3008-4715-ad49-01bc5a08331b phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:62916e54-bd0a-491e-ab0c-3dbe0bb2dbb2 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d31b9ae9-229e-4094-a2fb-26d9928b84b0 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c305abbf-3dd9-475b-9ea6-7a55c2cd7ca5 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:87269631-c08f-44ac-8aa6-6762b2d5c240 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8968233f-07d3-4e8a-90a9-61825501b2bf phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4ee1ea01-111a-4597-8ee6-7388787da573 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:235aeab9-41be-45d0-8287-e4b49f750e0c phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:534329e2-c5d3-4eda-8ba2-a429ae62e789 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:70df3e89-4709-4035-92b1-089352e1966c phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9449abd0-7cea-4ce8-94f9-32cbd3fcf53c phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P9M14D infores:phenopacket-store PMID:36256512 uuid:f552678f-c92d-427b-8cac-33c4b9ec2869 phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:9ec1ebf2-9896-4baa-a765-f7fc898365fb phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36256512 uuid:abd156f1-63c1-4ee0-9f96-16511b483428 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:692e83bf-f9b5-4752-9f10-b2b7e0f6d968 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:ae3d5345-d8b6-4eb8-84cd-92caf129e398 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:c51a098d-03a0-4267-979e-9047311a4ba6 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:4e070930-af36-4fbd-b8e9-cfbfa667a984 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:7cb5f7d0-cf9e-42c9-83d1-808d5672ddf2 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:95d0788f-ab3e-40e1-bc28-9b78b87b8fba phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:10366098-4467-449d-952d-9816a901b211 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9ce780a9-440d-43e9-af5d-1cbcddf461bf phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:7a23063b-a18d-4709-b095-af41266e7f9b phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a8947fab-cbba-4d22-a3fe-0622d329adbb phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:cf80d3fe-90a4-41a1-8388-4ae86ea525b1 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8640782b-6a67-469e-a749-bb9a8a93bb62 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:0a4c804d-c91c-4b9f-8af8-370d90664fc5 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:eea586b0-4fd2-4178-bcc1-10fc4e35238c phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:832cc653-5b65-4f5a-ad77-a6389daf9e55 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36256512 uuid:b62adeea-c5e1-4288-903e-9518eb6c64b3 phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:357ead1d-df7c-4b6d-a615-c258258990b7 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36256512 uuid:49a7b211-2d8c-4ab8-8c0e-6ae83aa5ec6c phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:33e7c4ca-8eaa-4e69-82cf-27150b45aba5 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:b0134106-4e9c-4f95-ace6-c3b18951212b phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:f06b6681-6611-4da5-a84b-06b30770df93 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1fdcfa93-d096-469c-bfc5-3938ea4df438 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:e015b0d5-6f58-476a-b26f-d06cab5751b8 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:cb3319ec-574e-45cf-ae43-8fc7b053a1a8 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:7170cc15-5773-4c7d-8ca8-be38f7a901b2 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bf2d63c0-9a61-47dd-bf66-35f30f29399d phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a1ddbe59-3306-4e97-8d20-73eb42a8412a phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:3432120f-de8f-4b5d-89fc-d523138089b6 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:06665e01-9bbe-401d-9cce-a9506856f5cb phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8fdaa4ef-8c12-4a9a-8053-592dfdd6f4de phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:22daa447-c843-4ae6-8a6a-a18ec95d650a phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:508d33a6-d56b-4e58-9b10-2b043b4866bb phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:90bc4cbd-baab-449f-96bd-806501d4063a phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e30a2af9-d85f-4899-b706-c1b2a5b51cbf phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c4723b75-cf1b-4fe6-aa63-017cde461f17 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:475c922c-68b1-44fc-971e-f9502eeb3f52 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a44f3a48-fbc4-440c-a3c8-914988060dea phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c686e3e0-9274-4826-974e-a65b99f28841 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:f0ec0028-9fcd-4ca3-bd07-def35770285a phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36256512 uuid:0d4237be-320c-47e4-acf2-046c7e650b54 phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:fdaafeb1-fdb3-4645-b164-ee85e9b97210 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:36256512 uuid:ba883c11-4e0d-4e9d-b998-e71e8e5fe23e phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:b45a6a0b-77f6-4bc8-ace4-46ff94d46262 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:66d68c7f-7f0f-40f9-8318-9621fcf134ad phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:6b508e5c-5068-4eca-90b1-463bc16d00a6 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:4cd06360-623a-4f22-992f-9eee251c6872 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:faa4e65e-9611-440e-8576-73928baf5cef phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1b0513d1-ed81-43e5-a1d6-6ea56c663d56 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:12852c7a-987b-4bbd-a79f-e63016f0d139 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:77f913bb-0eea-4fdb-b798-9eea9b1cd037 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e88af949-7d85-4ef0-8574-2fd495496380 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bd12b8c3-066a-418d-b0fe-b6175e48360f phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bcdd1373-8862-4162-8ee6-e4655a39beae phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:29fc4f0c-dd3f-4c2f-a559-0dbe017535a3 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:852243b7-707d-4866-a758-83734a7dadcf phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8a76ed63-9528-4b79-b59e-5be8ebc01afa phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:167609cf-e011-4cc9-ac3b-a48aebf489c6 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9e451ecd-61fc-42bb-9cf1-f4dcbe3b73f4 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:36256512 uuid:22d9580f-33a0-468f-b0a9-ef61d5fe50a2 phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:d9e81a30-a2e9-43a4-9c43-78860fba4853 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36256512 uuid:3824fc7d-9ec5-4f1b-a6ea-77af0025eb53 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0007020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36256512 uuid:dead6823-aeac-48ec-9c71-306f3c7c3010 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:5a60e616-aab2-45e1-87c1-4fa7d75fc525 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:82735dc7-acf3-4aa7-875e-75307151f261 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:ea94a271-ca24-4092-8ee4-401697d9e8a8 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:c15368d5-5f7f-4eb3-aa23-1462b27d4424 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:df93b1dd-e7bf-4926-8a31-c20444c34d0d phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:472f3344-eb0a-41ca-8dae-98447345fa64 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:548cc85b-d684-4675-850b-216c7d1ed777 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1a60445c-83f6-48c9-8c63-ac8b6229fab1 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:f55b0d6b-aaaa-4aa9-8b3d-ea67757fe4ba phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:5f64e4fc-5946-448a-b1e0-c9c12c348481 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:27d3659a-c98d-4a99-a51a-b85a8d99f798 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4d141fb2-0194-40d4-a872-645bbdb41433 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8b8d8b60-65d3-444a-bfe7-6913452f21aa phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:df78c32a-77f9-4eb7-abab-509d7169a70f phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:22b20bf9-8709-4ae8-8a45-fe8f97a5313e phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:434a2782-208b-41bf-9d7f-df18c868cb11 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:10a843d7-a014-4e7d-b837-97083ed79211 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:97daa97b-7733-49b4-bc9d-d21f88e6de13 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e024f198-39d6-4f6e-9321-db0aff2e2afe phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36256512 uuid:2e8d7745-561c-4db2-a4df-d7a0d107ae84 phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:c1f18c1a-0d00-4713-8dcb-9480c3500376 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:36256512 uuid:63bbca63-d9a5-4e8e-bde0-8dca3fb72908 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:a842ca49-cecf-49a5-9c54-5aba278737a9 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:66e29939-e1ce-41c9-9909-4f52cc3632fc phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:43f16588-a2a9-4ed1-8e6f-2bb396544a4a phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:da5c2a1f-af9c-4ee0-b189-b27021a7e62c phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:37407e21-32ae-4a49-aca7-2f763af84016 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:653ed967-f4ab-453d-a4e5-2bcce233db95 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:351487a4-d5ad-4995-9cfc-f118e10dc5d4 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:f18a8b21-89ec-4126-849b-f7f08f673373 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:621e9bdb-aff6-4ac1-9274-166bcf13b731 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a582d470-5582-4ec0-88af-c31000a484fa phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:50dcb06d-e9ae-43d4-914d-4e3ff22b7414 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:12a77790-f13b-459d-91f4-5db10bbf14c9 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:6238efd0-6260-4ab5-bfc3-7dfc855ea2a6 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:6eff149a-0e61-44bd-9538-58acb35e2acc phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:6299ea6e-0029-4afd-85df-d9d2d7ea305d phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:121e2301-dcb5-4d5b-a696-5bedd157a349 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:36256512 uuid:d29df26a-6886-4794-aa5a-a92dce0ce927 phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:7d8701d6-820b-4904-bc3d-706d52cf87d8 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36256512 uuid:a0a53834-f445-4cea-ad08-4c0c6c1ff392 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:e45706bb-179f-4977-bc80-e2f4b8aec5dc phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:f2c6a16b-d198-46b3-81a9-da430e153eae phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:891104a7-94f9-41dd-b1bf-bc93a0820e7a phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:37c53917-7508-448f-9fa1-5c01e787df06 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:4e3b06b0-b8b5-4be8-aab0-86bf3bace03c phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:62bf2de5-6dad-43b8-a20c-1ab2affd7df0 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:85112a6a-12da-4ecb-9203-af06a27a00ad phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:c1a5ced2-f266-4ad1-928d-ebebbefbf3f5 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:19e0b9a5-aff4-4f34-8705-3e720a30c164 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:4e9724e7-d807-4086-af48-b27448bee5ec phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:5ef59e4c-aa29-42ef-bb8d-b900fca412b4 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c6038949-15df-4fd3-8673-1bffba44750c phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1c4b0c65-0e3d-405e-b849-844ee21bedec phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ab700848-8e16-406f-8dec-f86055a8e7d9 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1f1642ae-8301-4582-ba49-d8c442a6eda2 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:84426085-7330-48e1-848f-be4a9749b11f phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ce23c98e-0226-4c9c-b3a5-56bfc076a9f6 phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36256512 uuid:d5826f32-07e1-4408-8bf9-db905808a68c phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:e35fc660-a25c-43de-952b-45bb9ec29d6e phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:92f50797-6418-4e51-a207-7b8a22a4bb8e phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:8167f27a-34b2-4009-b777-8e8fd20098dc phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:876baa58-12c9-4240-ac03-221141940128 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:75220b76-fe13-4d33-ae13-49020a05a1c4 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9bf6f518-092c-4a8d-9e59-b67aaacec123 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d589e8ab-7e33-4a84-8ee6-f3298e58af6d phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1e3278c9-d34a-49de-b8c1-a99d0bbdb76c phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4d480c8f-a1f3-4dfc-9d07-76ac35262e06 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:6ecf4efa-d69d-4ec4-9710-a9e84d8cbe34 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:b8542b13-43e7-4ac0-b278-a64c12599393 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:31b7ba24-7279-409d-8d49-02d0b006d346 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:327cab38-dabf-4f28-922a-669e472ddd9a phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9275b979-3585-48a1-ab20-fb2b38edac63 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:12d514ad-b3f4-4968-91f4-4dd22da1fed5 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1f606e1e-0c21-4497-8e78-75da41028be5 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36256512 uuid:36621ba0-73c4-4708-9fe2-406c192882f7 phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:5cefb1e4-957c-4e19-b648-6c6f93bef24f phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36256512 uuid:84157035-7805-40f9-ae40-400ef5b6114c phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:18bb5b11-b145-4d54-81e6-cb208b4798af phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:6ab590d6-3770-4d61-9a83-c509ec49714c phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:cac2b3e1-f2e5-4393-be45-4147b05983b9 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:dc0b6f3b-758f-4d7d-9bd8-c3949770cb1b phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:a1036f55-a64b-4ede-935e-20e0628f0ae1 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:251d0dca-4195-4504-9637-cd79466cdba9 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:fe2f109d-2b80-404b-a93e-1e6e8df46e6b phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:97761a03-1063-4fdb-be27-2640f479828c phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1cbf8a7b-53b7-44b6-8f2b-fda7f735f800 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ee5c0e42-2a42-4c25-8971-73ff278bed24 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d0180bd3-ceca-49c2-98bf-c006cad9a0a6 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:b1e172df-9756-4598-8aea-496d8ccda276 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4473a591-7691-4668-ba3d-0ecc83381da1 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:efc3a02d-8056-44d4-b837-54092adf8737 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d895ea6a-eee8-484b-968b-6afdad1ff299 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:fc2de9ab-3333-406e-90e0-aa20eff3ec8d phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:607cba61-6f22-4daf-b5d7-8830e6e13609 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36256512 uuid:efb0d686-67b8-46ce-b7d8-ce3dcc9859a5 phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:b74bfde9-d6f5-45de-9200-edb1055a6a69 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36256512 uuid:4535efa3-865f-44fc-8628-e081740318e8 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36256512 uuid:698792f6-8bf5-4ac2-9d3a-cbf0edb6db03 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36256512 uuid:ce1dc8a9-401d-4fda-9c2a-d9395ff45d32 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:425d3361-9c0d-4942-8fed-0ed87e3b5581 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:2abf2f7a-85a3-498b-a7fc-8bbcc577382d phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:b8c370ff-43ab-4792-abe5-01bc3fb69849 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:18508898-e035-461c-bb95-a16ba0f93d40 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:805cff4d-1113-4eb4-8cc1-6a6981b37341 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:133f596f-9c53-45f8-ac13-23c19c818fa8 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:d617e4b1-0d35-4485-a714-2bd8bd1194eb phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:16ba5d2b-a61b-4ecb-b511-5ce3471ec608 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:37bfa7ae-d23e-496c-9928-435ac87b5e8c phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d891c4d4-fc1e-4a51-b67a-e99e7c40c3e8 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:976d74cf-45ea-4410-827a-cbb85cf4feb7 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:3ca6ed63-4481-4917-8c01-b86a795e2312 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a850077b-a949-47cf-9d23-fd759edc4954 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:06da386a-4e83-4f8e-a3ec-cd62ff5a70d4 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:920449b7-c0fd-49eb-b04b-56ebcfe4c02d phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36256512 uuid:90f5550d-fb62-444f-914c-7ccaf04dcb70 phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:28de2010-48b4-4cdf-9fcf-922458101dee phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36256512 uuid:ae16ca49-453c-47db-8594-bb094b9f1af5 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:1f028f35-c10e-4b66-b51e-ceb83c93f1bd phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:59fc60c2-1f87-41b2-9816-10e38dcab107 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:64a23846-48ad-435b-a47f-a5ddbbdacc4d phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:99d2ea18-5c87-4e6b-a808-ddb528324f17 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:881e0ed8-a452-4819-b75d-841d147c6a5c phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:49f72311-dec2-4c5c-9026-8d019a458df7 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:298857d6-6267-4f2b-a1e8-be4e0de01483 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:580808e5-1ebc-4b11-88bc-fb3dbdeb0f59 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:90f5f9fc-549f-4509-9cee-e67df399d9e1 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:032d80e2-ad96-4178-8854-3b004858db93 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bc14295d-a2a5-4583-be41-1dcd5c78fd19 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:86de7a71-4517-43fd-81ee-caf12d17f811 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ce01c8c5-d699-4ddd-b2ec-8fadb8c57c41 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:3d45cd2c-1e00-4b94-a64e-ab5aee5283fe phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:8e695a28-fa61-4254-9477-0d1352fa1e06 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:b30a0ac1-06f9-4d0d-955a-ecf648340992 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36256512 uuid:5639ff50-170f-482f-8fad-e839ee9bf141 phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:cc50702a-0907-441a-866a-4e2c63c560b0 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36256512 uuid:b651ee7e-9a66-4e76-9717-6b71ceaeecac phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:36256512 uuid:543392d2-5f87-4508-a03c-dd3e2c11cf79 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:0a1dfcf3-dfc5-4669-962f-44a88e897a9c phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:39cebea0-e784-4e81-a418-582aac11ebcc phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:fcb8d402-ba6d-4f85-ad57-1e724e7b79c3 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:f48bdedd-98f4-4266-bbe8-4fdcaca1c5dc phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:70a30d73-07c6-49de-a703-919ca58f69dc phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:8b69fdd4-7d3e-41a3-900e-bc8a698b0211 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:77386393-f4f7-44f3-8686-60c4266ba468 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:cced751c-4b2d-4595-b650-b68e6e879d39 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:ab7c498e-5ba3-4888-8d52-442c05fe0bd5 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:6aa2e5ff-7828-438c-bc3e-ac4196b3f67c phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:302aeee2-f0c0-4743-aa29-740b4ed69c86 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:324ec215-2715-42c6-9ac0-ef3bf99aade1 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:5776655c-0e03-46dc-b193-99996e3ba8ea phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9e78607c-3b6a-482e-95c5-21ccedd935a0 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36256512 uuid:a5d443b9-9790-4523-a1c2-770088d19d87 phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:e7f8a344-db5b-4a36-b703-e79017776f38 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36256512 uuid:8c9f84d7-73ed-423b-810b-6b461eef3d43 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:39999907-0652-4df5-a205-76ac4b6295fb phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:4e94c30a-5dd4-4306-ad02-7d267935a49e phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:7bde0301-3e97-4aa3-a0c6-ef5400ad897a phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d7a1a21e-f50a-48fd-9c8d-dd6dd7840933 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:a03bee85-8bab-4870-8604-467633809ffb phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c6fbe782-d934-41cc-a2bf-af85ea3e9eb4 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bc679a4d-953b-4ddb-b201-95005df337a2 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:d9877885-9265-435a-ae3f-ff713aee5ded phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:c0824ae9-4a19-4038-b6dd-d8cc2b1f07d6 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0000544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e83b9cb9-13a4-4e5d-9d49-ddab76ad4406 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e5b82be7-09ed-4429-b1a5-d199372e08d4 phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:40b267aa-171b-49fe-9ba6-c55308a8d0ef phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:970f7b42-8001-4e98-8821-73c67aec523e phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:74fbc7bd-efeb-45c4-8a4e-1d20919d1cde phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:f24967ae-4675-4c8c-ad68-ca145dc46bbf phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36256512 uuid:d4fe93e4-8cd1-4862-b7b4-77ec86f3020c phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:8d78d695-fb6e-41e7-b962-a1feb485b50f phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:32747156 uuid:4b15e3ca-b377-4962-a763-00e3c0e545fe phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32747156 uuid:8ba9439a-8af9-45d7-b8a0-4f3bf2604d30 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32747156 uuid:c90b6d57-01d3-447a-96fc-09727eef79f4 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:caa96d6f-8bad-4115-bcb1-34f27cd7a817 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:f7f9a071-5641-490a-8d1d-8ebe0569943d phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:5ad006f6-a765-44f1-9d66-5bdacfc9e38e phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:90139fa0-7b56-4344-8388-93d647046d25 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:a0e18427-e664-4ed7-8116-815848be1c2c phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:15d07a77-dc45-47bf-88e0-c5ad2363076b phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:bf022be5-7b75-4ee8-ab23-75d7a3a1f099 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:02bab7dc-0dff-432e-921c-8dc3eca25783 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32747156 uuid:a07e9955-ecdb-419c-ae87-57f24d18bc06 phenopacket.store:NFU1.PMID_32747156_patient biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y11M infores:phenopacket-store PMID:32747156 uuid:6e4e70bb-1572-4aac-980f-74125a609b5c phenopacket.store:NFU1.PMID_32747156_patient biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32747156 uuid:bc1fa828-9fb1-4376-a70e-41fc1b34571a phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36256512 uuid:5b9caa2b-6678-41c3-a2c8-dad41daa43df phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:96c3e8f4-5ccd-4cc4-9ddb-4f3472e95f53 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:7df4e9c7-c8ce-49fa-8285-ad97330e2abf phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:cf7c2ac4-23bf-4e62-9c6f-0a7be8229f15 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:04aa94d2-0a7a-4c90-bbe7-562721345cd4 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:fa2b6a2e-8ce3-4c04-9f09-977fe6c16cd2 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:b5ef9928-bf4c-4aec-b4c0-77efb307a54a phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:4ec5ccd2-4a7c-49b0-9f23-59a4cbaeb42d phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:64b9f8f7-e59a-4c9b-87a1-feaf33d3ffae phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:cb8e449a-ba37-4924-8339-9884bc2a48b0 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9b614287-68b2-484f-9945-2d23499c461c phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:b5e87f75-0b60-457f-8140-9c6b62ff5213 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:1366273b-d753-4b39-b8fd-84aaa23a27f7 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36256512 uuid:4638da68-5a00-4cd9-bfc5-98eceeb79aa7 phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:a34edd93-702f-4881-8bea-a7303ab20762 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:25758857 uuid:5ed28872-14c1-46a8-9da4-abb133543f11 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:25758857 uuid:d5f1bd64-1efd-4b0f-a992-717679b3203b phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0007371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:25758857 uuid:80858301-0762-41f5-81e5-b37f4845d564 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0012708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:25758857 uuid:b2cc823e-b5bd-46a6-95a6-74548b6f595b phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0012706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:25758857 uuid:81fc618a-f009-4085-82cd-a34c6ddd672d phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:25758857 uuid:bf3be7d1-3753-4929-967e-3e39d87d1fbd phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25758857 uuid:5b172ee9-e76e-4288-8295-23496631e951 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25758857 uuid:35ea80cd-c1e1-428c-bf1b-80c94a12f40d phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25758857 uuid:07c22f61-46f3-4639-90a8-18a4c32c2ccb phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25758857 uuid:142af34a-2ab2-4e79-8c0c-3d2405dfc7f7 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25758857 uuid:03750a40-f52d-4e6f-8b15-4f94dc5ed2dd phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25758857 uuid:222ae620-b7ec-4b5d-97b0-2b44044957e5 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:dfd92765-a700-471d-8594-e8e0f1b22702 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:a4dc8ec0-0746-45a1-961c-dd33c2237139 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:5881b469-88d9-4d3c-b0a6-269919bd1639 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:36c55262-b80c-422d-966b-a666f3fbd2c9 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:ffc16ee1-8eb5-495b-8f39-8a64ace819e6 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:5c9031a8-4f5c-428f-9d74-bb99497e2825 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:05d35f3e-3ca7-45aa-9f62-9107e39c65cc phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:41f6ea69-fe7c-4831-9173-d80ea2bb4e1e phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:5357627c-ae3d-4cb2-84ce-a3908dfa5b2d phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25758857 uuid:478c4193-63d0-4c6e-803a-36696d937517 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:25758857 uuid:244b0f6a-04ca-4893-9526-72e9adad43c4 phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25758857 uuid:56ee3266-2938-4d05-bd32-66ad77254687 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0010550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36256512 uuid:3be7cf9c-1456-4203-bffa-f3e09bf9927d phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:94ca51e4-0970-41c4-9d22-71b1cafab9f3 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:768542c7-dadf-48ef-b77b-9464351ee567 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:053a1fb6-ef1c-4055-ad48-f7c4bcd50266 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:d53aa4d4-5596-42bf-9813-ef685f531d9f phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:825b6911-5e7a-4047-8fa6-318ead13274b phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36256512 uuid:6b264ecb-c4bc-40db-99e8-543c513a4d15 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:83f8f19a-6866-4010-b5ad-cf524e4b866b phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:58b782c0-781c-42e2-8360-4c98884563fe phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:9643b160-930c-411b-a90d-0dc802567488 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0011449 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e6e94537-ba41-4b2a-9712-7d6c246ab8fb phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:0188379a-c2da-4469-aec4-730f657355cb phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:82cf3e79-6bcb-4b09-8a2f-264969c60d57 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e09ace1b-f4cf-4017-9983-96d1b96beb73 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bce2e5cf-6f4b-4eac-81c4-8fe218efed30 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:e334bdbe-1e8d-4fca-8f6a-d677534db9b8 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36256512 uuid:bb40c6fb-61da-4723-8579-33f030f71979 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_disease OMIM:620938 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36256512 uuid:945a4145-b06a-478b-b57a-d1060bc30fd3 phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:has_gene HGNC:16287 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36256512 uuid:3fc28369-3b47-470e-bfe0-0119b20ca52a phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:16021330 uuid:fba25439-53d4-489a-ac45-eb06c274570e phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:16021330 uuid:2935f5e2-15f9-4cc3-8dd6-5de2a710049a phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:16021330 uuid:3c51d900-9ff8-43fa-853b-5ea1663c0f55 phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0100318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16021330 uuid:b511da42-8531-4685-80d8-926a69ad0f4c phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:aab42e81-a1b8-4708-b04c-5b5eff02d82b phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:d6fd0798-36ca-4dee-8cdd-ca20046be78f phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:ab33476e-45c2-436f-8d66-5de2650aa3d1 phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:388580e5-a7f0-4985-8a01-7cfd1ee425f7 phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:16021330 uuid:d7e2bd67-b17c-41c8-be99-9d0d16661351 phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16021330 uuid:4f9abbe7-babe-4026-a419-7730f480cd37 phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:16021330 uuid:b5896e1c-5bb6-474e-af0b-93277013ab4a phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:16021330 uuid:2c7118cb-e2cc-472c-a92b-d9fd3a782a87 phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16021330 uuid:81e85c4e-fd2c-440e-995f-3cc39cf28660 phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0100318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16021330 uuid:5d29921f-6c91-4908-8735-c0da9c1f605a phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:1d3e79e0-73d1-4443-9482-f268d3313699 phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:632a943c-3099-4859-97b3-870459dd5beb phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:a9ab1dcb-954d-41a4-87c9-c9e0e0ec33db phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:cc0b0bbe-a0c3-44e8-a51c-dfdee7826466 phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:16021330 uuid:2eaaf7b5-96c0-436e-9089-0365de5096de phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16021330 uuid:572b8a26-51ec-42c2-b851-fb7fc33f154c phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:177de592-d05e-4a9c-a236-dd146adfc513 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:129523b9-3904-4c76-91e4-6c72ee07c441 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:6e1d32d4-9e58-4f69-84f4-61ad366c79e1 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15781812 uuid:2bb75ef3-aa48-4dc7-be0e-74896c6a5e41 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:9018dc47-3641-44e6-8343-140af968bd91 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:41e09fe6-2eaf-4638-9034-1a5aedbde09c phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:7f8460d0-ac57-4908-8206-3c62ebcde971 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:43c3b58b-517f-4b02-adee-b3ebda2e67e9 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:f3089c40-cebb-4e81-99c7-8e3101819ac3 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:14ae6340-0311-4616-964a-5a1c7d2e3305 phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15781812 uuid:71cf5f5c-35bc-4254-aa01-dbe6e615ccde phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:25ef5e87-6e47-4654-9cc7-98af60b83193 phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:a676e5a1-1d75-4e7b-8459-b07cdf059a21 phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:c1e9afa7-58ee-4a9e-89eb-73026d352d9a phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:3646a953-a144-4532-8771-50a328d0ea2b phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:15781812 uuid:3a0f7be0-eec5-46de-9dc6-0ae8d155a7de phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:3ede4a0b-782e-4c08-bd47-a684b9c5fc2e phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:96c2c43a-8862-47a9-9a60-a2bf176aba53 phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:924a6d82-2514-4311-b813-8f42e3e8393c phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:ae7707ca-50b0-425a-b3e8-5470f27e63cf phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:5539cff9-ea37-4585-92d1-4948596d1bd4 phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:15781812 uuid:30ba07d3-d679-4605-b8da-49d661f769ed phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:16655c21-472b-4b71-8a9e-361c6b04a3ca phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:78c175f3-ad6b-47b6-b946-cec385fa4dd3 phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:fff52f37-7a50-44f8-9ab1-bd177601846a phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:36c69af3-76dd-4e1d-ab4c-1e042370693a phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:7ef0f57c-735f-4ed2-b610-5fce9dfd9c99 phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:6af4229a-5338-4304-84e1-9b6bec07783a phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:d2804eab-666f-48bd-9aa4-f1df8da62c51 phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:543f49e1-5f1b-4ca2-b659-419b0bba91af phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:d6ebf9ea-37b7-4108-93c7-402a06cff14b phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:c4da7cb9-09ad-4feb-aca9-b6d1ba959a2e phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:51698ede-179b-4d91-aa55-bed7afa538e9 phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P14Y6M infores:phenopacket-store PMID:15781812 uuid:dcad2c5b-773a-44e2-8a6c-20093b2717b9 phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:7d28fb39-6c39-444f-b895-bf3dfad0291a phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:5c50d9b2-71cc-4d3a-8d7a-794f2d85a602 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:a14e5520-be9c-4783-a7c0-65207b394a42 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:c5b6891c-c8fc-4ad5-b05d-d2e291d36d3a phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:d5df539f-f366-48bc-a932-e90bcb98c178 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:cf540934-1ca2-4542-8796-7a7c151ebcab phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:cd09ab50-6ced-44c3-b691-139145d9a709 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:6951a525-67a3-472c-8805-1a9417793097 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:cf5c03b0-fa52-4e09-8ab6-d45c27f4e3e3 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:c8532ff0-0f26-4519-bf10-bcf88797dd3f phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:6515a74a-5622-4e91-a077-4b71e1c03bb3 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:15781812 uuid:7871c47a-ee86-49bd-b734-938b3a46c7d0 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:1c423070-87d4-4dba-812f-1aa94558c3c5 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:c9147f3b-3948-4d46-92db-138574bc16d3 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:4cdc87a1-afbe-43c3-a790-9fa4d5c5cc79 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:76e13919-df9c-4a16-b23b-7ed0de451afc phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:78867c82-d789-4290-a276-7dc2746d6af6 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:67849e19-e0d9-468c-b44b-deff86b1fbf6 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:bf225617-24bc-4d98-a521-fee043ba1d60 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:bd4640ca-efac-4c35-ad11-18e758e25e30 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:ea570657-bb1b-43d7-9a1f-517ba5cf97b2 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:a78b0e8a-bd5e-4dcb-8e41-1428c54d1f99 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:9c641817-a200-4c9a-a285-eb232bb9a066 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15781812 uuid:0988687a-95d2-4b90-bf91-e4f7e21b2b5e phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:ff51b009-575a-411a-b5a3-34a22571dc02 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:15781812 uuid:96473ad4-69d6-44f9-9202-fa4424759524 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:15781812 uuid:d86e7e96-bf24-47e1-b9c7-953134149032 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:15781812 uuid:88358b96-9416-4fe1-ba54-cb7373bfa0e1 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:1cc6df80-3ce2-4aad-90a4-dc0fc4758358 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:a3b12c9e-116a-4069-830d-59f625145f4d phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:de4bf6ae-aa87-471c-bca3-e2f1c03c78ea phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:7b272b3c-8063-4c9e-878a-723d92c90f4d phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:1d1eecff-36c6-4cad-9474-01dd6b07f76a phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:42ba146c-7165-4dd1-8f4d-d5486f953d34 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:74c0c4c4-556e-4ad1-a34b-74837eb0af12 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P14Y6M infores:phenopacket-store PMID:15781812 uuid:46731e5d-961b-4b5c-8636-ec2facb4380f phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:c0b98502-839d-4175-9dd0-7ed35755720c phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:15781812 uuid:0ef4ca40-9fbd-4cca-b135-85f8325c650f phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:3726610c-fd27-44ef-80c2-8ad68d8eda26 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:9f31fb00-f9b9-4c12-a8b8-edbfd8aa7c12 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:9eac5215-ebd4-4197-9973-34ca9344e5e3 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:1e2ce35f-361f-4931-b975-17b805affcc5 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:d41e3195-740d-40c1-b699-51be396c7686 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:64787ac2-c9ef-4f3d-ba81-67459b8af3f4 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:b1f2f36d-8c1e-48dc-8f93-c7f87d3dcd51 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:c49962b1-79c0-486a-a4d7-b70ea6688e71 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:772dd0cb-6e6e-4d2b-91cc-75308d12f9f5 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:15781812 uuid:2435d475-fa56-4b69-b719-8560f79a5a42 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:9d71ea2d-dc74-4600-8714-e2d5d7a67f47 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:926aa046-65e0-45b7-bf4e-2c9a35cf1ac6 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:50e5e43c-859a-45ee-ba8e-47595d46bbe3 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:373921ae-7397-4431-8454-20e98e6a7826 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:074f44d7-47b3-4fe4-b8ba-70af5bfa4886 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:09ce37c2-80e3-4c85-910b-d3a5b1a61a9f phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:16a305a1-20a2-4736-9513-29f07a90db69 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:999c0e7b-1359-46ce-95ac-ee5a474ddd7a phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:da052513-856a-458c-bb74-2ef9987a74a5 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:9d36ffc8-4b6e-4bf2-b282-a2bf5a3e1a52 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:f87bd022-3dd8-4c94-89c8-095c64eb1f30 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:15781812 uuid:bac62d3f-eaa6-408c-a4f9-664799fd0089 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:be724c52-b594-4b38-bdea-eecca836fe89 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16021330 uuid:7ecc11e7-d369-45ed-af8b-e6bfc4e03080 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16021330 uuid:b6266e19-01b6-448c-9ee7-4c14ccd3c419 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:16021330 uuid:3244c287-3aed-44fd-b9d0-5038e5e2a19a phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0100318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16021330 uuid:78a7fe65-7bb2-483a-a297-9f2aab7277f3 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:be63f13a-73bb-42ff-829c-288eef02e6c2 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:757af020-70bf-4abd-9c20-dcb578d0f8a7 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:4eb84158-afc5-43ec-80ff-809d940aeb5f phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:f0d6839f-6b24-452f-9ce3-e8915ae1922a phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:16021330 uuid:e4262258-67f7-42db-80b3-8ca5af833d3d phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16021330 uuid:19072831-bf7d-4a9a-b017-b642fd9e60ab phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:15781812 uuid:6d8456c5-308b-4a7d-a14f-b1f25b9c2928 phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:3900dce7-e68a-49b6-86a1-353020b91520 phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:7a60b8d6-bfbf-4d4d-9a64-0c8316b59a1a phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:9895f4cd-b9f4-4dd4-97d7-f2756b96d7a8 phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:b5d177a9-21d1-4b30-83d1-54cd5186bc17 phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15781812 uuid:35d4428f-1490-4641-9d27-90f8f2599a1e phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:0a4ddbd0-95bc-4b70-8596-edfe95961f0e phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:6be8edbd-2dcf-44e1-a435-9deacc368fbf phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:90820cea-fce4-41e4-ad2b-1b2ee83926bc phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:3f817aec-7f59-4789-9f0b-62097c007180 phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15781812 uuid:a71d31f9-336b-4c35-8e49-9cdb9a8eff82 phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:be52a885-7eae-4735-8f8c-056c4c74eead phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:ef66efb9-dee1-4a8e-b823-1f3bbc0a638e phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:ae36dd72-d7c8-4d27-a77b-f73ebadb0a3a phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:22d3a6a8-df55-420d-a398-03574a7daadd phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:2425a4b2-d7f2-4e41-b51e-caf58d0cc73c phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:00c89e52-9c44-4f76-a1dd-99361929c420 phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:72f50c62-1224-47bd-82f0-cfee6746a621 phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:440b7f18-a738-4175-8623-3c06c9f221bf phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:dc65a6df-5758-41b6-894d-58078c67b304 phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:e45a4325-9cde-49c0-bb96-b7dac1672038 phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15781812 uuid:f8d1f2b4-14d6-4243-bd6e-ab0191d7b51a phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:4c86ab2f-a33a-4103-9239-488845107b90 phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:16021330 uuid:bf6c478d-5975-4b59-8aed-e55ea43af0fc phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:16021330 uuid:276d41d1-e2fc-4a06-9eee-20153e57d235 phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:16021330 uuid:d269acf9-15bb-4cca-b8a0-f3c161f45646 phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:801e4ef4-a27e-4d69-b994-2df9ca8bebc5 phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:7e29b077-9b21-4860-8541-aaabc652ec52 phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:6df4756c-2976-4f7e-ab1b-8a250b78b9ed phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:b74158fe-1eb9-43be-9195-adba7fff6f9d phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:16021330 uuid:f8e6573f-4f30-47ab-bae5-63129763e8ca phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16021330 uuid:de297183-7c2b-4e01-902f-c5592921d616 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:16021330 uuid:fcfdfbc1-95a9-454d-b612-e1400237f050 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16021330 uuid:9bb1b251-cb04-4bb6-b1a6-abf808c4d9df phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16021330 uuid:066a16e4-ddf6-474c-9883-2b8d395c04ed phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0100318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16021330 uuid:b0350f63-f906-4d33-84da-f8850d144e68 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:a8a9b867-e0ca-4d0f-8f03-e43e677dc270 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:fae96762-8529-47ee-af96-3ce8892a74f1 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:c6e2107f-631b-4a56-8d92-e4cc3e1db2de phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16021330 uuid:2261dce5-55f3-45aa-84f4-764dfa971814 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:16021330 uuid:def2fe57-5d3a-4e2b-abc1-36a80c2d9f70 phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16021330 uuid:2662613b-c33b-498e-bdb9-dc1e11812691 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:15781812 uuid:c2a9990a-b63c-4aaf-b755-50116129ed32 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:15781812 uuid:e772ce86-a894-429f-a857-7e6a657c4280 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:34e67d4a-9d03-4e8f-82ec-417e6455cb8e phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:15781812 uuid:4b4b5db6-9448-4e2b-97f5-c52c23cc7f29 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:15781812 uuid:7ea9c352-7233-4a63-8bdf-58c32e1a2c69 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:2ff02f66-f1e4-4335-9799-205261e10b5d phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:f30ffa36-3758-4e0f-b9dc-a57c96276d74 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:4a269756-223d-4ea4-b611-52d3f8af7b7b phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:ad20c1d5-498b-4560-870c-f61493a75ba8 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:ae590d44-6697-48d8-b6c6-a40b362c144b phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:e5875672-2bb9-486d-b891-317375d28d13 phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:1134f55e-16c6-4196-9926-e7830c0cbbe4 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:3f91ece6-cbea-4f9d-a5fc-39ba292eb688 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:fa26cbae-4294-4438-ba4c-10a57d917db6 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:cb153d24-3477-4045-b76c-60f1583e94cb phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15781812 uuid:8a7f3f12-1a21-4127-a1c4-ab76260f7119 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:ff5a3cb1-6f09-4033-a557-debb9e184ada phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:39c25852-31ac-4622-99b7-07b18ae4108f phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:8f51f498-80e3-4057-ae00-37089911f28a phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:304b27d6-b174-4ddb-a18b-fdac6fe24e07 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:5c7cbeb4-f36f-4c29-bb3e-70254b6621d1 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:633d1fbb-67c9-4a3e-974f-c1b56a6808de phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15781812 uuid:c5cc1ba9-74ab-4c71-8b75-e23244b24d58 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:2622e8ee-d081-4672-9aae-0767a66d2a6a phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:6ebd2b87-4ec6-4ee3-a38e-9787d712c378 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15781812 uuid:b4e6648b-b0bb-4e0f-93f6-4e5a1de9aa22 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:215cb6c7-e52b-493d-b9b9-d68b8ad4b614 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:f49855f7-bf48-4a6c-8348-13fb0764c4e4 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:f4f41cb5-b2a4-431b-a9ac-656890387734 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:2115a858-23e4-4616-9c22-71f283f2833e phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:8f6f2716-ea35-4461-afc0-0d3c22348d92 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:ee059ec1-0e95-438c-b84b-ffb1a85f2c62 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:2dda5a5c-eaf8-4ff0-a408-4e0e4a1226a7 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:a949aea7-1817-4c53-a767-3a0f2aca3f94 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15781812 uuid:a47e9c14-578a-4051-8d9f-2065a9499621 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:2d69a912-e770-46e4-81d4-1f7fca65a3fa phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:15781812 uuid:ed2df142-abb6-4a92-9cf6-566f6af94b5f phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15781812 uuid:51382d33-323e-41ea-b1f5-ed99ace9c162 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15781812 uuid:cc8cb5b6-10f4-4b5c-9066-93962ba79e5a phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:3fa7324d-0779-4c4f-b6d2-937df1d12762 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:4cedcf3f-9875-4eab-b786-f95e55038725 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:d424cb45-117c-4a37-858c-fa3d0948b147 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:4a557bcc-4ee5-4607-ad4b-cce74fdefaed phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:3b366322-73e2-40c8-842d-d11ad642efc1 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:78a2491e-8cf3-4c6a-b7ca-205b1dcb0cab phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:d6891c47-e3dd-42c2-8bad-a34a0b6d2533 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:15781812 uuid:7e63acb6-39d2-485f-b480-1c83805831b7 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:bf28bd16-5b7a-4aaf-a049-180181802170 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:1bb56743-a018-45a2-8105-5ce2655380ed phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y6M infores:phenopacket-store PMID:15781812 uuid:dc5d2f1c-8005-48c5-8674-92f381e58338 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:15781812 uuid:586cd184-abf5-44aa-bfbe-f1e146e344c5 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:15781812 uuid:8a70e0d0-f96b-4728-8762-4e869aaa0815 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:1acf5729-1a2c-4c5e-ab85-02e39668e4f2 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:57f21fbe-31d9-4fca-acfc-71b5bd45544b phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:4d39395c-05d2-44f9-a0c1-4713ea8d558e phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:98720874-8569-493f-becd-cdb6a0de4d03 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:8bd109c4-9d5f-403e-8be1-4e65f3631c9c phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P13Y6M infores:phenopacket-store PMID:15781812 uuid:6c6fc9f0-7f95-4eee-a5c1-c01fa0a84b29 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:80aa55f0-b279-4195-9db6-3195633c48b4 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y6M infores:phenopacket-store PMID:15781812 uuid:f0159851-3838-44e1-88a6-1989be84d994 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:d6e318f5-fd5f-4610-968e-87dc242492dd phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:15781812 uuid:6f972531-4d7a-4c8a-89a5-8c94f46fcd3f phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:12379647-5450-4f0a-b6db-b6698022b933 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:15781812 uuid:acad1707-a9c2-4ee0-a917-3e0ea527826c phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:b0e2519f-d44f-4e56-9aef-fb007fc63070 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:34e52c33-9339-41ed-813e-526fe012ba0d phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:4070fc84-303a-422d-a683-0e396685b808 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:f050722a-b41f-4f5c-bb6d-f4e40c7fb52c phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:bf5f3cfe-7da8-4c7e-8533-f48ee81a4c58 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P14Y6M infores:phenopacket-store PMID:15781812 uuid:7b3afb23-72f0-4e62-9ba2-377e4b63f905 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:637ec44e-0e97-44df-a941-17d69e1f4971 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:7f9c50c0-b768-4d71-bb8d-847fcca57889 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:15781812 uuid:57caf2e4-b46c-4c71-a604-e08ce83f5870 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15781812 uuid:6591e058-accb-4595-be72-304e9255eca6 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:67ab493c-cfd4-4e08-93fc-bfcfc105236d phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:6345d120-ef0e-429b-8abc-51fbb440823a phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:b8677d87-2d39-43bc-a992-cb77e4075083 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:e9b6f1f5-c229-49fd-9f10-1b999b75d847 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:4d28c59e-9b18-4417-ba6b-eefbffcc8d79 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0002344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:d080b02b-4aaa-4316-96e5-13ef4462ea21 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15781812 uuid:43296953-8378-4a3f-88e6-9ef6c32914a8 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_disease OMIM:620681 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:15781812 uuid:d5e29cc9-ba24-41d6-a681-b7b784506667 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:has_gene HGNC:21576 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15781812 uuid:c69d0c98-b1fa-49ff-aa5e-556bb1bc4603 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:3eb4aa2e-fe36-4491-9102-ff1de1ad65a1 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:ea5a022b-befa-42d5-a36c-7f49f52d41be phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:84fe63b6-dfb2-4032-b003-d85da64b1f87 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0006346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:8a38b0f3-ac47-4dc5-a8e2-c370a4d35944 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0011092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:f0e7ca21-9946-4f4a-b791-91058221be62 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:5d8237ed-eb9c-42c1-9771-b672a540f613 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:494afb19-886e-449d-960e-2bc315b679ea phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30642278 uuid:42bf708f-5ca1-4956-9ecf-49e22f0b8eeb phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30642278 uuid:37b79cb4-87bc-4810-a906-2d8dc2395251 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30642278 uuid:8405beef-b237-4b99-a6e8-4b2ecdcdb9c6 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_disease OMIM:302350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30642278 uuid:dc0e1a7e-3df5-445d-b2f2-7843f3474790 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:has_gene HGNC:7820 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30642278 uuid:61a1fa49-4009-44f5-ad2e-66dd48be7f60 phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0100018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:4b7c10fd-3f03-4a11-a415-a16ff2e2afbf phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:fd432974-5105-47c3-b4c3-f83e8f9f87bf phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0006346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:3ff9b4d4-218d-47ad-87df-d6664683041e phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0011092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:2490e5b3-5da5-4b31-90d6-db0a3e459694 phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:c52caea0-84be-4901-9625-884ce6bd61ba phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:16ba77e1-f985-4dbc-bea6-1e0da46641d5 phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30642278 uuid:1d949054-9ea6-4e73-878c-2b6dc29001a2 phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30642278 uuid:ec2b82f5-c24e-4fed-8ccf-7a3661403df5 phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30642278 uuid:45498ec0-68f0-4d3c-af18-2c06918e9f0c phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_disease OMIM:302350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30642278 uuid:c6d62d66-920f-4f3a-91b7-cdf38cdc2dbc phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:has_gene HGNC:7820 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30642278 uuid:b4205319-3b87-4dda-a887-e3534f901d50 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:a1329296-d00a-4a67-b590-47d28e38e094 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:99f2fbbe-683d-4cce-be14-7f088cb0b733 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:8f7a771e-7c4b-49ac-b765-88a996a55458 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:627374e8-c1d5-48b8-94b7-75659f79652e phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:74ea9897-7da1-4033-8c03-f7861c3591fc phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:04645cc4-4cfb-48c3-8888-e6f06757975d phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:8cc60fdb-c9af-442a-9b2a-b1d5d87b3591 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:09887f6b-7303-4893-8b57-ec289e546694 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:45ad6c56-1c47-4dcd-8753-c3b10aec2918 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:bda60972-48f9-4e05-a2f0-b68d94a3eea3 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:d9a83ec3-f867-4c25-9722-221a86e8a61f phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:846d5a55-8d04-4976-9f85-a61805cae545 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:520f7d93-fe66-41cd-849f-4aa86a1692cc phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:6724fbf7-2212-4dc7-8fa4-d96ffe0cbc61 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:561a0eec-da63-4ae6-afcb-ee990d963e4d phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:37727fee-6a72-4982-9ff4-f060693dbfef phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:35577eb8-2135-4038-9cf4-2a5945540305 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:0e1a4d6e-8a62-42a3-98e4-6ef3edae6d98 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:c70231d4-93ae-411d-8f61-0a05a084577f phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:68a6c4b3-41eb-4857-9f5a-8fad1e46368e phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:679d1a49-f853-4ff0-afeb-dfbf002222f2 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:29b14d97-6018-40b4-b85e-fff264fc7df2 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:d3c8bfa8-9340-4eba-9c04-350b0d2afa08 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:a2a2be76-f325-46cd-a5be-0eade5ba0eb9 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:f3d0dc8f-cbb6-41f9-8458-e6cc762ba93b phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:a82b4796-7bf4-4800-90fd-fd28466634f6 phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32074972 uuid:639c8adf-9669-4fab-a67d-69eac42c966b phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32074972 uuid:d218bb5d-0b31-4344-9a55-c7b13e7cc95c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a4e75ece-b726-4a04-8ac1-2a05f060d145 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:bfed4b31-acd3-410c-aa79-a9c872fa3eca phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ba4a1f52-5351-4261-8a0e-872ddd7211ce phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:37183fe1-40d9-4712-91d1-33dfc958511a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:52dd7ec2-89d2-4ca5-b16d-549a371ad587 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:db9157e9-585d-4cfa-b7f9-73d0df8a1093 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:45d50595-9fe5-4ec6-bd85-0c4ec4c6da9f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2db0b188-b34e-4123-8695-9de4353f3a46 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:e2e28fb6-eff2-491a-8f85-e615ca385b9d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2ab9c8af-f515-4a7c-a5f9-51179b70bcc0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:13caddbf-ff21-428e-b296-e9c97ff29d9d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:e88aa4ba-f0bf-4bf1-8ff6-f7ee77074dce phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:71a047b0-a74a-44de-945f-57d48718e99a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:71520e76-84b4-4191-8751-6ca38772b8df phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d0794cb2-37d8-41e4-bba1-0f1f56f51bc0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:46ec6969-7d2d-447b-b353-7cc38ff9f34f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d96d5971-b748-4e0a-acf1-939d4b879ddd phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:5c415c88-61e0-45ea-b408-587d70e38942 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:75af4292-da80-4bb7-9883-c01790da98fd phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:111fa8c9-350d-4fa0-a4ea-820c66fa264e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:5a8f718f-d911-4a66-89a8-9ee3b3f12a4e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c84987b3-99d1-4755-9634-456ff5a034e4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:308d4d9b-febb-437d-a878-ca0a26b8253a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:8c9a9004-cb24-49dd-99bc-65cf13f2abd5 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:e3171b5b-cfdf-4a62-9dc1-0dcf20c8df9c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:61fcdf68-dbf0-451d-9023-21c793cf54a9 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c31ec8c4-60b2-43a1-8a4c-e660a76b8855 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:0a9546da-4c64-4976-b0b6-76a9bf820e31 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:fde6dfae-cbcd-4b35-8223-01fd287b33b8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:831a8f04-3bb4-48c6-85f4-e7a39845bae1 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:78c1acee-3203-45d0-b031-6ffb71694fbf phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:3870c88e-726e-4b28-be93-019a478884c0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:931e3520-b4d1-4c5a-8d7d-bb4acc25af6c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:78401be6-6470-44a3-b992-b198272b7a9b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:fe947de8-0846-4980-8520-d2522144c076 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:cfd5daba-cc1f-435b-a51b-d188378e8826 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:881ef882-efbf-4db8-8db2-bab5f128de77 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:2d3dec49-c6da-4da0-a611-9e00c931c26a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c355a8a3-4e48-4e4c-861c-2706916d6281 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:43132ce1-9675-4c60-be93-07ce3a6eb696 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:536470a2-7c7e-431f-ab9c-893253ccc45a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:8d80f4d2-8904-49d5-ad14-41850dbefcb7 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:da8c55c2-bd75-4aa4-b490-d6c245c94ad5 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:9f2b5d77-712a-46a5-9195-24078d32984d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:2052ff38-8247-46b3-bbeb-c89151191423 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:77d28741-7da7-4eb9-bfe7-780b96dc648f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:62dbe1ec-1e26-442e-9299-4160d62f2b70 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:96a2bef0-6b0f-49b6-9415-52bd2dfe8b10 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1f388e5d-57b9-48bd-ba6e-c22fd4e90903 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a00e2d9a-7f6f-42ff-9a11-05bd9927c6aa phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b0e3f206-16c4-4c1f-bc75-b3d782c72b57 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ebc27e8b-3f8f-405f-8158-71b369934589 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c55a0712-0a05-4d05-9d44-8bc47cb22b25 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a449e768-bdfc-4360-894b-28539502b7c1 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4656a5d9-5a00-47f5-8a6d-f6da5b01fc1d phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bba533d8-1c81-420f-b413-38cf800c0ecf phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:81170fdd-57b1-40fa-bf35-73e63ebe7dc4 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:577ff9f9-d677-4fa7-903c-537f38218382 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d19207af-c0ef-4d63-bd25-6a9d163f7730 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:88d0ea83-76b3-40b4-97b1-54d6f2fadc7a phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:45ad1042-e04a-4045-9f80-2b50d18f6c29 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:14b8c079-c60a-4ba8-8398-47c6e40fd09e phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b084a9b7-e5b0-4dc9-a18f-d42e4cca9ff6 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:451a34ff-ce5a-4b41-b218-fc866423f09b phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:42cc529f-d1a8-4194-8a9c-e89412f1155d phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:163f5e38-dee6-4ac6-aa8b-f44c14481d69 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8df6348b-bb66-436f-aa15-874cb933b687 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:db500d22-7c8b-4084-891f-973be1e94384 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:974b6328-df17-4850-876d-4ce8a50ec2d6 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7f3cc39d-c5e6-4e2a-bc89-d0981efcc862 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:836b3d3e-75ee-41e1-abf4-9f0dc3d89c0b phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a86db5a4-6e98-4c86-b169-ebcff2f4892e phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:37f57bd6-0dbf-430d-8893-1c1ea49f8fc3 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:777d148f-f936-4c32-887f-0321aa99b186 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9f8c6a82-a8d4-4bd5-9143-350126b869da phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b3042ddb-b323-409a-a5f1-1b25467f7932 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7b7e4666-7db3-4841-bcc2-6d3f00384064 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:69f50f5b-6ce6-4e2c-8a57-b465ad30ff50 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:34350f40-90bf-4e14-b1b0-018dcbcffd66 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7944f118-d664-4afa-ab2f-c24a1f68ef9d phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:77a6c79d-287e-4d85-97e7-2a7b05acfe62 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:969cf597-8918-4ddc-8d28-bbbef55faa50 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7e8f3cd8-edd6-4854-a363-fac052b03aed phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:da772e9c-5121-4152-b8cd-b1848c78e61e phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d29eacb9-bdcc-4264-802b-18d315d38dc4 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5e47ef0a-f8f2-4268-bfe1-8ee650d8cbc5 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1bf17e75-f943-450e-a422-5eeb4cae5f43 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:48079c9c-15a4-4be2-90c2-1f3101b910ff phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:96eb4cc1-0f8b-45cf-a62e-193c7aac7d17 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e1879784-2fa5-4479-b1f5-285d91aa2ef9 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e5a98a65-f603-483c-b7ff-e1d8701a8e66 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e94b4c12-b4ba-4b39-a972-9a66a136b17a phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3bc415bd-7f2e-4fbc-8cbb-6de6f3b7ba99 phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d9ec6e09-3b3d-478a-ad5f-2626c4ba89dd phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:34455bba-afa2-48fb-aae6-8c41a1e9877d phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:74ad472b-84db-4300-97cb-cfdf7781693a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a3c557c8-6a2a-41b8-a257-37518eb5e15b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6e4c505a-b6df-47ad-b7c8-0d5bd644b9a3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:21eb78cd-1b7e-4567-80ac-1786cbec4f1b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a4596caf-7375-4bef-9436-5d37f2f2aca2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f4d525b3-1b15-4480-a0d7-8482806c0116 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:764b90db-c8bd-4611-9c02-0dcdf0964b2e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:e0647d7e-bad6-46dc-bcc3-7a4d6d3a9b31 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:cf84a68c-8f63-4b6b-aeae-047803d8ac0f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:97c5750b-1013-4647-8539-47e17248f004 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:671b6f9f-895d-436b-9651-a6993c98505e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a1fbb365-bffb-418c-a514-ba3b04b19329 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:69d60a21-07c7-4c26-963b-51811a9724f2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6fe3f81c-852d-483e-8ddb-4076ff1d84ed phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2b86b2eb-9986-4976-b60a-bd3205d2f606 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:84e40238-01f8-43f5-8380-c8cbadc6b023 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:dbf615a4-1949-41bd-8a68-115428374664 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:224f774e-58e5-4454-86f7-10f5079f2d83 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:061c7c6f-f297-48ec-84b7-5ee8a467b817 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:490eda6f-e475-4f46-8468-c5ef8cc9b3c4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ac1fa0e0-db6e-4a09-8257-2331cc5abc24 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4a0f87bf-480e-47bc-aaba-d01bc0361e08 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:61256c6c-c14c-4e07-94c6-1f26d345b7d4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:7bd23b77-6b21-437b-a5e9-a6c0eb17d70b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a6696a0e-7e05-48ea-b3f9-4d8c7da8e598 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d4e9d247-9be3-4a08-99ff-26e9f7db7624 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6dc908c7-748d-4ede-8d36-f68807f7f1a9 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:b8379bf5-ba43-4215-a6ff-14df9c58bce3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:83ded1f2-ce6e-4e6d-ab0e-2f636db918c2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:e84fff24-ca9d-45fb-bdea-501894fd9da2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:eaa70d69-9620-4301-87c0-34d793e96b64 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c077c76c-d23e-4fbf-a59d-8772bae2f18a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:9d39ad3d-1471-4c51-a519-ffee8167b051 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:201ffed5-5848-47f8-87f0-f69ea0890ddd phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:6c21fa26-d128-45d0-904b-ecd154b86fa1 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0aa693fe-37fb-4d72-9901-0226d4927114 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c5c7cbdd-76ec-462a-b6f8-b8a1df48224d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:30f30eca-e6ad-4888-8229-1f5c45853cd5 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:5a79ad97-306f-4062-ab93-3b33dea5099f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:6b22b835-d695-4bfa-b1df-1075d3453ade phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c34d4ba9-32db-4b5c-ae6c-90114e371617 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:30612ad6-2592-4891-9ee9-453f0354bf0c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:5b4ed827-e1da-40b7-b951-b3132a3c3cbf phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c2547e84-6fe0-4c6c-937d-ab194f1c0454 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:81707036-71c2-42fc-add6-5526b9571513 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0621c23e-ddd0-4c62-8d7f-bd36824b1501 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:2060c657-e623-44e6-82cb-fada9d974916 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:d04b9d2f-c272-4575-963c-cbf9bc963c44 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:3815351b-6db9-4823-be6d-9e477ea79067 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:bb01260a-954b-4059-b5be-5470c7966a17 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:d23ca1f4-0ddc-468a-98df-093e2f5cd518 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:5d2b9136-ffa6-42ce-ba99-20340d340fbb phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:5d78a7a1-5ffb-4c67-886e-22d261dd97ae phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:63233b23-4813-49c2-9d55-c3d1cfa6f72c phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:378947bf-e964-4c33-94c9-68a8a7734b9a phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:9710f11d-6be7-42fe-9667-021a462b63ec phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:2c7fac13-f6f8-48c8-82c9-8fca1dbb9870 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:e7d54798-4f75-431a-bdd1-e428a0762dfb phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:cc179d4a-aff2-4649-88cb-015c329fb887 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:7c0a216f-9d83-4f41-bdcc-e3bc627768fd phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0fb265f6-d6a1-455d-97aa-b9bc573203a6 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:666d01ac-380b-4d84-9c23-90888646cb9e phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f37eb25c-4730-458e-a541-2fefde9b2856 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b0ce6af4-8545-447e-9977-feedf4ecd0f2 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0993c1cc-1074-44b9-996a-b55903737dbd phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:bc907e8d-980d-4a1e-aa0b-a9b0b7d7626e phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:01f1159c-4fb2-4bee-afe7-912edbbe8ecc phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c6b6ba21-653f-4c5d-bafb-5ec7b09b236d phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d98c56d7-8d39-4ebf-b696-5b5216671349 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:8a1db52a-4f5d-47f7-8c6e-7c9de1f0aefb phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:a4fce135-179b-41cb-9917-cf7d07ec6db1 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f2a81c6e-1fb8-468f-9007-cf8a20a1f1d7 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2fdb66a2-57f0-4c30-b78e-50bfc0a985de phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:9d644edd-ad9b-405a-aa89-16a1a6e47117 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:853d0d9d-86e9-4c9e-b03e-08a7b59bc1b5 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1d1595a4-eb15-498d-b552-a298f9ad3205 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:24012919-244a-44b7-99c4-8a705b732fb9 phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:67466a4f-1ab8-47ed-927d-efb5130494be phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:0f1ef59d-f8b6-4055-a37f-7a76e0037907 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:7e69b94a-5b01-47d3-9a06-9d2a76cf3555 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f5fd3fe1-d954-475b-8abf-1fcb61e5c572 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:12e7fdf9-bd57-4ccf-a551-c0195fbd9ab4 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:101af65d-9616-482b-b05a-a6d1a245bc7d phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:709be91b-203a-481f-94ed-9f7168e126a5 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f73ff486-7ea2-4d99-9774-719f670bde11 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:bc91eacd-063b-458b-9786-b106b52b8042 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:d9556f6b-e1c5-4640-8bab-0474826e7de2 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:e7c564f8-ee00-4292-94d7-3f32b2924358 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0e827508-853b-45b3-81a3-bc955df4c3df phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:e91727d4-32d9-4035-b5ec-599b5965b5a0 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:82fdc888-f693-4e94-9d65-4a71b13c4ba2 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:ad33fbeb-7074-4183-93e3-3b2458622a8e phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:405ee548-9349-4640-98e0-f177f5577027 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:adabb9af-a45e-46f2-a939-e8a83f11b3f1 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fe91abc8-bb06-495e-b12b-482b1d7b8299 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:67752ea0-dcd4-444d-aad0-fedcab59d864 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c80c0382-f56c-4d4b-babb-d857d3c1899f phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:87d82f51-a383-4fe0-a3b2-d3c71033a3eb phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1bc214e5-f8ec-4637-b974-cdcb25890667 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:59ea1885-44aa-4a72-976f-069d497ba270 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5c386125-8ce7-4175-91c8-f5230b542ef6 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:20a99f72-2508-48c1-93ca-c442ba59c2d0 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0dbad564-61f8-4a20-ad8f-c78447a79764 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7e2c4c46-7b1d-411b-9c96-70b88dc452a6 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6cbc30fc-0304-432a-ab44-7367aceea4dc phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:aa424363-c6af-4437-8696-132ed924b93b phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:a8e74a35-c1be-465f-8cbf-cb24bd32035a phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d4aacdb5-fed0-4dbc-b635-a1142bb5e57c phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:61cdde89-f25f-4097-92c7-e2a103288788 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:383c7d6c-232a-4efb-a5a2-8094ca838c03 phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:56ff443f-36c8-4d5f-976e-134405bd3af2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ef265e16-f290-4e57-acc7-6a9479bacbb1 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:bf8ae39a-f941-427d-b56f-4f18b7224ee6 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:564e9ec3-7d1f-4243-af93-3afaa6d13b27 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ba019da5-d659-4ca6-83a9-856852c68083 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2afff4ca-7128-4b32-b7b0-43bd273b7fc9 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:3fde69d9-e865-4209-bf52-baa4007da7f0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:22853ddb-2a97-453e-84de-e1963ebc2bfe phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:cf1fdd7e-6e39-42db-abc5-03c4647079be phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:92149265-513c-4bcc-b137-86aff05af1c0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:124c6b55-43e3-4077-b8f9-791e624b0eed phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:efd2b1c5-3272-422a-a49f-e0dbe48de467 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ce531564-c84f-431d-beac-2ce82a19c1e4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:721ca30f-7d8e-49eb-824e-dd1d658b27ef phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:b985f483-ba6a-4ddb-84de-ecb50ca482e3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:27437ed6-e979-45fd-b095-6d48f9b7ca2d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4fa55b39-38ca-4e49-9cd3-91fa6b08407e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a952f9f4-94ab-47ef-b612-82266371e8ba phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:0adf3186-24ad-4039-b955-a0b2efdb4f40 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:e7a4ca3d-5741-4019-b6da-4d46ce5e6520 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f2e24adc-1879-4b44-8f12-6063bb21bd47 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:dd5c8e84-04d4-459e-b8ac-b8b951b7124a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:79deafa4-03ac-4a02-a9fa-c7ed77a8c70b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:48da7b21-a1cf-4e30-965d-92122dcd0db6 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:f9a1c270-c3c5-4e28-ac01-0527483c9242 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:1b9c7167-641b-4a0f-bcce-a83db5d7badf phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:4831e3ad-e0e1-4ddd-8af7-50424efa9f8f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:610fb4e3-ad82-4951-a2ec-98cc8eccc6ad phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:fa145709-3869-47fb-bfe0-4a75b93dfa37 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:b24e6fbf-e5c8-49dd-9ced-068acb3a6b33 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:5331c93f-d415-48a4-80ec-4b679643df74 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:796c141a-43bf-4c32-b8e2-b57cf3117511 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:058f2dd5-e170-4072-8a51-4efddcaed93b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:6acaf986-bed4-4db1-88c3-75162b1bd062 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:f6778c06-3861-43d9-9547-5ae01680a0da phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:1e656fe2-562a-4b26-8161-9a14ef622f14 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0f3a33f9-ec07-4f97-841c-728017fa2c89 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0367ec21-354b-433d-8b65-3f27139c98d4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c9f6c3c1-ab8f-4c34-85e6-401048ee9719 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:41ba9d92-a3f6-4700-9105-5ddb5f37341c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:8451d4cd-221e-4f2e-aaa5-a15210b132c7 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:723d7053-5d80-4bf1-8441-62898b253050 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:39712456-fcd2-4c05-bdbf-aa1eb9647c36 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:d147ef82-d31f-4c4b-8fea-4c84cf97bda7 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5798a393-62d0-431d-974b-fc007b233966 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a2add8de-11ce-4da5-a7b8-3d51ed2f9301 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3f1b413d-9ca3-4a50-8b95-6dabe622a0f5 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a4c39c1f-4daf-4f8c-9bd7-006da54fa88a phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cb25eca0-7002-45b4-affa-b82ce25593c9 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8f7219a2-7e26-42f2-a449-19c4487afde8 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c5fd67b0-f8bf-4787-a56f-f729771fe017 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3fa245b3-9e19-4f1e-a5ae-cd626611b84d phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:924e2d5b-fb3d-42fb-bfb5-50a0a3baf355 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:60e36baa-ee19-43b0-8905-ae1752cd7024 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:127b1d87-64fa-4a0b-8979-36739d392375 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:25d15f5e-d903-4b53-8fbf-7c1fbaeee1e6 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3604851a-698a-442d-b72a-874c7d9f247f phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:dcad8edc-e8c1-4fec-ad16-07b75452a2c3 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c629ecf5-6711-464d-99c0-492dfa91eb6b phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7e4d2af2-938c-4066-aa5c-8b968e61ffda phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2ad5038c-f8d7-4d73-a356-966bac6f7691 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cb4ed23f-0d5a-4f67-aea1-02a15982051d phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bae03f85-db2e-40aa-90a2-7c166efc29f7 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:198df1eb-f313-4312-a55d-a5f5fdbbd517 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:091affa7-b16e-4faf-8e03-060715a3ba17 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d57a6541-9c51-43ce-8bc4-9ce1373ec5ba phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ff08cefc-82e8-4f0d-9d18-631c3ca56972 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:72529584-1013-4fa9-91bd-f601888c5dfb phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:02eead02-ef72-476f-88f5-f55b8c2de935 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:19fb404d-3c59-49bd-8177-d427332a2bb9 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a56bba80-74ce-48cb-9045-bb4ff33e48c5 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3a3ca50e-3059-4d8b-90e7-6aca62b14078 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:872006a8-1396-4eea-9126-8fd0feec6725 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4f437235-57d0-49a2-894d-137573f9d109 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5bd3128c-f2e1-43eb-b7a1-1396e58e8a38 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:aa8ae842-6ea2-46e2-9d37-0febc42cd9a9 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e16a2284-1d13-4d0b-8c65-828236c48481 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a427b656-3d93-47b7-acaf-3d811d0aa8ef phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d8570b3b-4eaa-4b55-b918-4f9fe8dc22fd phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8ef1bd78-bac1-46e0-a26c-cd0abbd58f5c phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:790dae64-aeb5-4341-be6a-db48f45a785c phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:046e5c17-63b3-4a1a-b732-09fc0422d7f5 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a6a72478-34bc-4791-8304-a7f77ea1c40e phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ebfda51c-d428-4524-b3dd-c5ef45dd40b3 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1f1545bb-587f-4ed6-afd6-2b75fe18ae49 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:50ecde18-e69e-43cb-a123-846677031fc2 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1affe3aa-40c1-439a-9902-89c9b542eb9b phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:194c096b-12ff-4d7b-b543-366d11ac72be phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:43440fe0-74ed-4966-a50e-9add76296855 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:821726d2-cf6b-4125-957f-c03f5ef6b111 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:dc657dd3-dc83-43d8-b93b-4f684f9b554b phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:670e4696-d754-4a11-a133-a98e57411732 phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:7483b651-6cfa-475f-8b33-b3d3340f9cfb phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b61bb62f-cd28-44e0-8df5-864ef574d0b5 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c2560b05-0968-4cfa-b6d6-768653c65b72 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f5413644-3601-4403-829c-6ae531580cc5 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:86af5277-7189-4a8a-85bb-f7b7f77e623a phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f1ab7d76-92af-4119-b80a-e4ea6a1c976d phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6f0e592b-fd56-4038-9fc3-e19b93d860fd phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6a603de8-7fb5-4c60-ab1f-1c4d54a3d5ef phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:9f96f798-b0b8-4275-8db1-4b2232c6b40e phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:cc2bf974-44a0-4ab5-b25d-e36028b8d7c6 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:3c1d7a46-af7b-4e1b-bee9-b8cce5932ed3 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:7ec5964a-1b58-4799-a808-590cd012bdf1 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f89cf867-a893-40c6-871c-1f12aaac2e51 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:4715b49d-0c9d-4264-a2e0-d15feec377e9 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:1827b6e5-48e8-4490-a21a-27eb65e1b17e phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:72daf12a-67a1-43e5-be54-38d431e65007 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:6df0189b-cc6e-4287-9570-bbeec186620e phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:b7cf41e7-41fc-4f76-8004-9423e41b46e9 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:fb66e5f9-bcdd-4180-8e4f-6d5a6e713176 phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:56328e2f-1f1d-4502-998e-5201f9ae9c6c phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:b6a09159-7578-433b-a91e-a7d34559b012 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:e62e811a-9a98-492b-9968-75dfb9d298a2 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:5900bc2f-dbb2-40b3-a916-a32b5a7ee103 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:958ef174-150d-4f1b-a62f-631e7a4a2698 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:a5e0c755-68dd-44a9-97b6-69d9a968a5ae phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:30bcc89e-8d03-4e85-a632-807dcb11393f phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:a69c76a7-3581-4d69-a05a-67eba853a346 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:cfe37a83-0f3f-42d6-98f5-2b740112df0f phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5bfcb55c-f07c-411c-9d9d-b625dc9d966a phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:11ab6d85-f5e9-45d6-813d-acd96b3d9853 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:a1270626-c030-4503-823b-8b3217fa2996 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:9b03e4e7-2589-4ed4-adc9-8a0a37e716f2 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7274b17e-d820-4a0c-be3f-a9e372ddf6a7 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:45e0df41-8c2d-46c1-8d9c-583cc589560b phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6a4da416-dac6-4903-aced-1d578e16b9c2 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fa777f74-25be-4e16-8329-a471883a18b6 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2f47a933-c4a8-45bd-acf8-a22fd39fed43 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d9784ea8-7ba0-4367-830a-a98523d38df1 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6f257105-ed7e-4ff1-9ea5-d1f4122710ae phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:8fe4def3-b6b1-4493-bf2c-1deff4bcca81 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5093a6ea-0214-414b-bf13-19175712419e phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:a46814bd-babe-4daa-82a5-8d7d492f0c50 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2057565f-7351-41f9-b790-1b8da25487eb phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:df785405-b5ba-44b6-872f-eb32c6cb9d44 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:3eef8744-4eff-481d-acdf-d9fd232e9a80 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:653c0cf6-c9a5-4f32-adb4-c6161e8c209f phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1f2a7704-7c71-4761-acdc-5b49c48348eb phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:60566fdc-673e-406c-8202-d54f5d341432 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fd269928-30a6-426d-8344-d2d05bf6facc phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dd0cca8e-1c28-4b96-987d-0b5b03f3dde7 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:3176bbd8-1ddc-4ca5-9ede-c69b0be710db phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:d217572e-b1cf-4581-b953-a076657201fb phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:6aa7c331-2d0f-4773-ae00-ba6b4e4d71f4 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f17cfe91-5cde-49ec-b817-2680066ead92 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:346acf16-8953-4d2f-9589-69e6d59636d4 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:074b294c-fc03-433a-a8d0-187af3a1086a phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:aaf69ffe-55a7-4a8b-bf37-5c9f51c43d20 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:23b3242c-1b42-4f98-9200-54ce2b609962 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:e59f5860-e2a0-4752-980f-441de62462ec phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:946a2cfd-2d3a-4bb8-807c-e6e8b00da75c phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:b7af62a0-e9c8-4e2d-ace0-3ea832a09d1c phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:8355284a-eae2-4849-9d43-a108bc0007bf phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:206e1a4b-02da-4c03-9484-ddce6bafa417 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dcc30a77-6f4d-4c90-8d99-fd0665889233 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f1cf7c9b-05c2-47f1-a284-c394f373315a phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:ed38532a-1b82-49e1-bfd9-98609862d7a5 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:35c872d7-2a7d-4e0b-8e49-f7520dc6a7dd phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0da4c9ff-2ddb-4636-a83f-83ff3ddcad37 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:406670cc-f713-496b-84e9-3f3af405a6ab phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c501f6a0-de49-4c60-a4fe-cdf8486150d1 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:38be2874-6311-48ca-93f2-3ae7525cc96b phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:009ac066-4af2-4e9c-af1b-b44fb5f14e8f phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:42241db0-27c0-4024-8a25-db20e25dfd5c phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fe206d5f-80c6-47c1-935c-51eb6395ee2a phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fbdc3c0b-1699-4423-b5c0-89df66391eb8 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:e10b9f4b-da87-467c-9e6a-b19b49cb23e0 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:934c3182-8fcf-4961-8f05-56935b28dab4 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5d2aec4c-b515-43ab-877c-10d161e56443 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:17a324a3-56f0-407a-b029-6a367be7f067 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:ddceb46a-0611-4088-83eb-4b3267cdca89 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fffc8eb5-3206-4e2a-94b4-1cb984c54fc1 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:fedcf587-9287-47f7-9c7e-c199e4e2c38e phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7ca330ce-518e-4f94-af17-12692b80dc6e phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c0c3d7ce-e7ce-4249-9095-b2e68386e200 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:9810ceea-0306-4f31-b6b4-2d2f6e309da4 phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:9697575a-099c-4e3c-a179-e33d6f9648de phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6475ad6b-5197-4c72-b727-2c668e67db57 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ef647962-fde7-40ed-b99c-0fe625fa18c9 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ad699c7c-58e1-416e-b208-01b998b2ffd5 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:94d2e1c6-d8a2-41dd-9897-60be8ebe81a5 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:11bd725a-8934-4923-acfb-58d31a8c2db6 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3f5b91e6-7a9f-40b6-a166-9c2ba56da386 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e27843f3-2aa2-49df-b0bb-bbc06e69b061 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:91eeebb3-7d4d-44ad-9386-76d59de133a9 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3ca460b9-4c1e-4a9e-a72a-cc04e672cc13 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d01f49fe-b3c0-4505-b3f7-b4b7ffab38d0 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:49a63b26-ed77-4f1c-aa53-e4606be50530 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:948b0be2-e664-4086-8d40-23c3fc3f91dc phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:daf0c791-3583-4b19-87b4-3b58c9124c8a phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0ab48bd2-91ba-4ac6-92ea-118506615b7f phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5af95b8b-b2e8-4c80-9453-a0c108daaaa8 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:74e3d4f0-5dbd-4af7-9303-74f3d3c8bbcc phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c877bd05-d26a-4954-99c9-fc68f80910d9 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3bbbab34-cb0a-4a91-b0de-0d68d691d4a9 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ddcddac6-a8a6-42ce-bd6c-bbf07522bf03 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c5cfae87-fffb-45e0-99f6-696100f03400 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e3f84afa-98c2-4c1e-81a5-559a6c1796a7 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d686d0de-9dc7-4e4e-8363-8e6e85ca0481 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a66ec9ae-9185-410e-a3fb-24a09bcafdf9 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bde536dc-981e-4f98-bd61-cc9a5abae2a8 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:65dafe31-8219-48d9-bac7-f9a3f3ee976a phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7ce52334-09c7-4cb6-97d0-b18029c9188c phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0cdb6e7d-0012-4346-b375-fceed66c9c85 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4d2a4404-e0f9-44e6-ada7-cd04ce49b8af phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:49573617-d45d-46d8-b780-7b4ae1450f12 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4dab1821-4863-41bb-a1d3-2bd876ea708a phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ec734244-580a-4f59-b2e2-1fa930a92b51 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:19a632e9-77b6-44d9-bec9-821d276c9684 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bfecec23-e20e-41fb-928e-ec4aa6cf9ac2 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1119fd8f-8971-4762-bfe5-91b8052bda0c phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:82b32885-03e8-4a6b-be05-c79e251e6bbb phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b5676d61-ec55-42c6-854d-c014cc21820f phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5e57ac1a-500a-473c-8f1d-bbf545e9e940 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f554ccde-b2c9-457a-a272-1774da8d3798 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f488c0cc-11b5-43dc-8c23-e979d09e0af0 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:90c002af-2cfc-408c-85e7-1156f4833827 phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:deb955ce-6cc8-4d7a-82e3-d093493c3e67 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:60330084-650c-4cb2-beed-fa99ae6f67f2 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:ecac5a2f-ff80-4f63-8b30-5635060c6fa0 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:3fab20a2-c614-49af-bea8-b563374d184a phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:4889b3a5-8d05-42f2-8cd4-46c2fbeaf67a phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:46f28a9d-8a54-4ca9-a859-7377bb1c28fc phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:774a1c62-44c9-4f12-a0e2-4459ed0c0de0 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:b69b76ac-7d0e-4ecd-a0f6-32eafa4a6496 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:37bc6186-b933-418e-844b-749fff67f144 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:7fd6c87e-d29b-4d72-b31a-6d84d8f45f0e phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:066796b2-28e7-419d-a733-a3d675efc0f1 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:c237437c-46b3-4229-8b2b-c5b779272706 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:ce14e067-7f0d-4d07-b9a6-e86aee2069b1 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:4cac4b9c-d7fe-4d7d-babe-13244b46a90e phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:fe697818-0466-4fb2-a148-5aa3ab136cfd phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:0d3c2615-d752-4092-b211-eb9c70ea452f phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:c48d79be-25d8-4815-8206-0b98f6c91123 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:68e42a15-e96a-4f0c-8720-b1247f53f3e6 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:ed6e27b9-7d0d-44a6-9d8f-ceb7d17a7268 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:a023a9ae-d8b8-492a-aff6-22ef314dc587 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:418ab2bb-4443-413c-b943-24075ed2768d phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:b3cdba8a-06a8-494b-bf79-a984d5b43ae7 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:a0fe4ae7-242a-4cf7-8f52-e67623aa6e03 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:e526277b-9f2d-4ed3-b0d9-bf56a92496d2 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:63f62e68-b5b7-4ad3-a1b0-924acd0136ef phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:27320c8d-2d8c-4ea9-80ab-ccb0a9ea0cea phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:9e2273b3-6e5b-4615-8b27-db528ac6ceff phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:f39a431f-bb19-4e27-8d02-de0808af3e55 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:718888cf-d87c-4f45-861f-bf73d7c7b5e9 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:431939d2-c2d0-4e5b-a2ee-e87fc600c82b phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:e80d38b0-b1c7-49b5-9a89-471d86d8a32e phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:21e187a0-e806-4c43-8df5-978bfaccde97 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:b5532e29-770c-40de-bc8c-7d153c64eb7c phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:30e45299-1979-4f1c-aac3-266a654c8468 phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36777704 uuid:1e8c1c41-7191-4fe9-b547-7efc1103cbdf phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36777704 uuid:77d31409-f0fc-48d7-ac97-d607c7f4398b phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:20721126-b839-4ca1-9d36-5cad151e8aee phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b8816cbf-cc29-463a-8460-07d7af563568 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4d93888c-a0f3-4956-a5a1-2da2e7fbaeb5 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5028be3b-9fd4-4099-8fc7-a77308f82418 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5e0c11b3-a146-44b9-b44d-3bab2dd210d9 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:859c3697-376d-4acc-ac03-2631a6429a3e phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2528b556-5918-4ce4-90ba-fcc5de2176be phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bb56a51f-1a8e-400e-a9ed-1e4b406b98f9 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:88d04e3c-0681-49ef-8892-2c105fd28aa4 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:174c2dd5-7707-463a-8fef-b9c7d1b7b2ca phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:22264c3e-f224-40d6-9606-2b58ba633e0e phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3b96e243-f4bd-4a7f-baaa-2266ce16895b phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:270f7a07-782e-4a7d-b0b7-7df2f87c352e phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ba536f6d-d766-4430-aac4-9dbb928f0425 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2945f129-098f-4bcb-8fcb-accb9acdd5a0 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e01e68b6-59c0-4581-8276-93c3eeb40456 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fed709fb-4e34-4070-8a89-3de6a1068e4d phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:226779d7-423b-4a51-8337-7a3ed953adff phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:443ef19f-d1a6-4b7b-a712-e1ef9f30578e phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3fc8cf2e-3c84-4347-9fa6-a4f7f88310ad phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5c1e5946-1382-45e4-88e1-4d633a0c8b78 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ce33f6c6-c9e1-4606-a0bb-ae819444a5b3 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2c6873d3-47d6-42ca-a282-a77cfa3ff3d9 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8af47a11-2eaa-46e5-a8d5-5bd118698cd3 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:79c5b6d8-7ef9-424c-876b-faa1a269d704 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8de0f0fc-76ef-42e1-801e-8582f99526d0 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:94c7e2a7-5066-4a79-b085-12939116f8b3 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6bfe6300-6992-4342-bd82-0f430c0987b1 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f0dbefa2-7720-4e7e-957e-0210fdeae48f phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:459160ca-0469-4779-85a4-977db988feec phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f4e8a9b2-6252-4918-87e6-09737e3773ac phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3dbbc096-fe22-4437-80f5-5a1af9cf0440 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:95254a84-e3aa-4acd-909b-5f3c47a3e1c8 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d64c56b2-dac8-4fb6-ab83-5ac9cd4e471c phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5c14fcad-c96e-4e4a-8289-b75ce299431f phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1c4eb49e-0cb4-402f-a1ef-4a17187c3631 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9029890b-aa18-4501-b470-4ece6f168353 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4af87363-cc97-4f74-9ca8-b3080fe201dd phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:723ff08d-4c2e-4e73-baf6-9cd0eb4f5a5c phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fda619ea-fec5-41de-ae2a-588eb8f7e48e phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e3b47d78-9a99-41ca-a732-a9247bd86ca4 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c8264378-5927-408b-9f74-521b0c504b2e phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b4a90c9b-04c3-47d3-8c56-5d8c2111fb5a phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2cef7a93-7c79-4b96-a93e-2c0a42fcd2ce phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4c57919c-5612-4cb0-8694-a64efcb49094 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d67051b5-c1dd-479b-9cbb-b2d36e78b592 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:01f2dd7a-74d5-4378-abc9-0a6f55695ff4 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:421444cb-f10d-4155-9f36-53b7fb59f1d3 phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:06702223-89cc-41a5-917d-d285e22cdd8c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:73fd2bdd-68a4-44a3-a86d-b85ff78fb7b7 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:47b210e3-37f7-43eb-aae8-0485663ba4c8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ba626344-d2b4-4a9d-8c20-5ebc0c5173ac phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:bb2e0c92-cbf9-41e1-9bc9-64fe67dfeb75 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:79c5b085-36df-4058-b8cd-24ea0b18fd49 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:8cd2675d-2e8e-4892-aeb3-e537ef9b476d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f9808d88-f596-4c0f-93d3-26848ec6f81a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d70539b4-13eb-4dbb-aff9-fd60e50d078f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:7228ac72-33b9-4acb-b01b-a13049f74721 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:888895b8-e64a-4d04-af18-10248082ba0e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c09ce469-22c2-4838-a9b4-2707c4f86b14 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:957e6369-1f16-4d0e-97f3-42c2bb65c521 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:fe271001-08f0-4ab4-90cc-a52d9a2c8748 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:08af261b-97b0-4d7b-b708-99f687e2186b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:487491ff-c281-44e2-8b75-79ca8cc15153 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4cc174c6-87c6-4fb1-9d70-6a6fc5cb8a1e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:abf1cebd-5b4c-481c-b0c6-45fb655a39e0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:41ceca15-14df-4c8f-8604-918413672bad phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d074a55f-86af-4737-8440-4466c60bf421 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:1ca921b6-d21a-4244-87dd-d62479aee91f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:786b37bd-a554-4013-9f5c-cbee08378b95 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a4e413bd-f987-4b96-be9a-182bd46e3561 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:77a359b7-c219-47a2-8011-82a5f0530ab5 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:34bdebb7-62bc-4234-a09e-b1c2ac61b082 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:6a4e3d8f-3c60-444d-b0c4-611fe187540e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:7898afd3-afe7-49a7-a6c4-96a16dc1b6ac phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:4ddaf794-43f4-4000-8720-e2471f561858 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:5452b74d-52bd-421c-b08d-a2b5d70cdfce phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:2792712e-4b33-429b-9f25-98a2b74305f4 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:4f558200-9ead-4c20-97b4-b0c134d86e22 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:565b3a66-3bd1-4015-9f18-ba52d066465d phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:3e98b25c-df93-40fa-9c9d-306153554186 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:250484d4-7c6e-4cf9-b80d-2b78fc783367 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:af9e5abb-dea3-47a2-801d-ba3e6004709b phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:bd6a2f7e-66ed-436a-b430-9b03ab97b50c phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:748099a5-0239-48c2-8bb7-6751f59e06f9 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:359c1ed4-6b87-41f4-94b5-ddb1b0c44f45 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:79582d6f-0a8d-4a37-8a19-2d3af47c7ded phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:9db73407-1d58-479e-93d2-0347e358de48 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:db6929eb-4def-45c6-a9e5-87b1c8b63df6 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21165303 uuid:cf6a63fd-d135-4ae3-8406-590d37d20a78 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:d0a0c264-b383-4698-aa40-5067d3df58db phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:8807e361-a4ec-49b3-98ef-0aa046a3700c phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:b4fcd035-da31-4be5-8173-6347799465d6 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:67e2af6b-10a8-445e-8882-1cbd34400ed7 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:03567d80-88b2-4831-bda0-95b488fd7b27 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:5157d26d-68c9-420d-99de-10cf0a4808b2 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:8314d152-3138-4c30-9a1a-71f39ce08e8d phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:bd3e3e17-7a31-4d44-949b-adf7598e5f83 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:9ffe4d6f-3485-401d-932a-1937312277af phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:6f903523-73fc-4895-abdc-6862cdbaf17f phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:114fe0c9-6327-4a3b-bccc-3fcde2875d62 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21165303 uuid:1ab03cb1-5add-4f9a-b132-6065ffd5eafd phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21165303 uuid:eefb8e6a-e896-4767-b79b-6a7936564c37 phenopacket.store:NIPBL.PMID_21165303_case_report biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21165303 uuid:184db3b8-825f-4ffb-a3de-0ff5aeb6e8f8 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:117e0be4-e5a9-402f-9102-bb38012a5382 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6b3ec173-6ef8-41b7-92c6-0eb1a9a80334 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:351a51b5-dcf3-4196-ad12-151e7fd5a119 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:4c58efd1-bb70-443c-8a06-4f3b84911d10 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:8fca7fae-0b9f-4e5c-ab91-63b216af3612 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:1b44838b-7d2f-4394-92ce-db236d3a6ead phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:57ab4386-1ee3-46b0-a074-33024337e8fe phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:e49205eb-ea62-4249-926e-2745fa1e1512 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:16a71bf6-749c-4e26-9347-04b31b988fe2 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:650805e6-d5f1-4b62-9541-eaba435dd48c phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:0225f89e-4fb5-479b-9f49-fe74a6825846 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:376e7e58-3b94-461e-af02-e0f71e718acd phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:cbf57dea-c56c-4875-8b34-95fa849622a1 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:43d74729-a497-450e-90d9-719acbe8f0f9 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f449891d-f2f2-4142-bd1a-7c03ccb6ffe7 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:eb790ce8-a86b-4825-b97e-7d45aec83e47 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:a6aaabef-7c5d-4fec-b0b8-2cb3d80321bd phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:3406bd12-413a-4433-85e1-99e1ff6cc394 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:02d9a1f6-30a5-4229-8b32-34ca7ba8b9b4 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6f0787d4-dc7a-4773-bf17-dc8972475db8 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:2a6e38a2-fce5-4a5c-9aa6-7dab80b9536c phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:66775ed5-f071-4985-918c-6fbd10f35e8e phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:ef686a96-7350-45d6-9d60-e4b12eac9bec phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:dd85ca81-78a2-4e2e-baa7-6ff3a45b02fd phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:e59843fd-72ba-4e8d-a98c-87f6b0e2fdf8 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:bf15a168-a80c-4eaa-a550-3b8741944ccd phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:a55bd2a8-bb89-4efe-9cce-5fcb62b38c20 phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:22db4d88-0a19-42fe-8a1c-5e9fd54bbf85 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0d7efc68-1763-4997-8ea7-b97fb8037a36 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0c1a097f-cd3e-4202-a56b-324e1cb5331a phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:2b6d579b-e4ea-4980-b0b4-5f82ef4cba21 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:d530c051-54b7-4f17-9491-f741ffee790e phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:2cbc0a7f-a334-4b8e-94a6-15c7a5aa3bc7 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:d8ef87bb-226b-43db-b89e-462ddd936372 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:8fe1099a-0340-49ff-bb2e-e485fc26a0e1 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:15c471cb-c8af-403a-859e-26178dd9e9ab phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:cfd1999b-efec-4fd9-89bb-80626f05d393 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:8ba41f6b-b16c-4322-842a-181e312edf17 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:228e0bcd-b0a2-49c9-9d2f-e8f7ce20200c phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:893bb237-dde8-4aa5-828a-232138e816b1 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:91b348d5-3f23-4157-96e2-484bfccddd50 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b9550a44-c12c-43e7-b7f3-208058136ffc phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0ebec938-8135-463f-8c14-880e6e5b3d8e phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c53f953c-d578-4b79-835d-c2ae4edf61f0 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:e0e30ab0-0c48-4ff8-afb5-3c7a8ef7035b phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6058c897-514d-4fd4-9106-7f8eb07ef27b phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:cd68a321-a947-441a-a442-acfb4939776c phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:e73a6b6a-0141-4066-a48e-3ee5a099e17f phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5563f208-0a24-4d56-8200-a7f90b8b2a10 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f66ef149-b967-49e1-b346-0e4907b41093 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:279b46ab-2b22-4a25-a42c-d05e7fb94ddb phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:61b80e7f-d8cb-4c0c-beec-4453d11d478e phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b547e609-9973-437b-b08b-e2a8eb29669e phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:20e06db1-c862-4aaa-91d1-80e6a12c78ae phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7ead429b-fbb7-4ce8-abdb-c0fac0ef8f73 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0ae75f5c-6e08-480f-bf28-8d6125a780c8 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:ff2a2d64-8334-4c31-8a19-6d47c5edcab5 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6ec6d645-7286-405a-bda5-9380ad612478 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:f6f18b2d-d2f4-4bad-92f6-bbc7f2e3d32a phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:7ffec974-1b42-4168-8927-ee37964a19db phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1de53b13-5cd0-47a8-934b-91e14a21277f phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:310ff79d-3b48-4882-b7bd-74680059ee07 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e4408a64-96a1-4db8-b05a-9a5f4208da32 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e5e2ba86-9889-4a82-895f-41ab7808f8cf phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:34aa8141-5df2-4fee-ab39-7604f8540e46 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e8f5c07a-40be-4a07-9e81-5790ff670950 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7ba11afb-f6dd-4fd2-9806-094203789864 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6f151a46-6707-4435-857d-cfb2bfe59c4f phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:59524e38-ae14-4ce9-8678-2b721fd1d6d7 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:71c1ee1e-019f-4aa5-adbf-5aaaecae0340 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:9143fd84-b021-4551-b369-bdce9bdbf4a0 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:aa13a1ac-baf5-40c3-a30d-bacfe62614b0 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0ac9e1dd-f790-4117-af65-7a6998f3885a phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3de99303-460a-4b2f-b8d8-d3271bc17aaa phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:369012d3-2244-4cb3-8953-d5097f528e72 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b98746b1-ed23-475a-b1ee-734e673a4083 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:82518d08-9aa0-403b-b401-769fd9a06130 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d7322ac9-9c0e-4050-801c-aa171798c5a5 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:43d587f1-058a-48d6-aa3e-674f85129405 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7f147311-82a6-45d6-b781-415ec721273f phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6504ae4c-77a5-44c5-a302-6c31eac10ca5 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:be1c9ba1-c202-439d-8e2e-7ac75b39be97 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2abbe932-17f5-4c4d-950c-6535357737f7 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2aa6c12b-f81c-46e8-9546-551b263541a7 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1d400d26-ba20-47fb-aceb-80a54ed5ecba phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:26d29bad-148f-44ff-8068-3ca13fb86f1f phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2fe84361-ca82-4533-9b62-46b50859fe01 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:204f964e-9306-43eb-9cdf-774a0cc83865 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a5b4506c-68fb-42ff-bbc3-3c34fe84ebe1 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:da0fdb0d-68f9-4b16-a7b1-981de7d22a6e phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c054a882-8077-4dd6-98a6-0d73e12441f0 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:12154a75-d803-489e-8ac1-c53b54873b0b phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3849a10a-b7c4-4b19-90f5-011052274a2f phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0fe99041-8b30-4910-86f0-e8d259a0e773 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6dcc6942-11b6-4aed-a1d1-e5746b031b0e phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9c1e43e8-f1f2-4f65-9169-82cfbf56006b phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0d9ee09b-bba6-4628-8165-8cf75065fce8 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d5e97c3c-124a-4ab9-a460-9e53f272d583 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a1cde2bd-2859-496b-aa1f-1a287e72319b phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8eb90525-029a-4cfd-935c-41b57f621f4a phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f09db3a3-6668-4990-8859-8fb1ca7032fd phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:747fa448-32c6-44cb-9e27-0ec053133384 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e8377541-8314-4cf7-bce2-77b9c8b132b9 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3d7c1932-4c00-4a41-bcec-fa034646e37b phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:47978c4d-84ec-498d-8e44-bf8df2c16588 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b1ee4b96-7a2e-459f-aee8-f626240058ae phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:73917d1f-ba6e-4244-9a99-91a2ffa346d1 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:8d2e5810-a8f4-4562-85cb-e2d0a88669a6 phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:8b77fab9-3d5a-4746-be2e-1d726825f17e phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:21eee2f3-9261-489c-bef2-deb5082674d5 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2a339845-4305-48bb-93a1-aa81c45122e9 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ef3dbb21-2cca-456e-bd63-f112690c8016 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:898fa659-1b9c-41b7-8eff-1b8a84a86d6d phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b0a437b5-67b7-4ddc-af6d-811ad695ad2a phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d2fa3353-d5c3-43bf-a605-b65638156faf phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:af131408-98b0-4744-a20d-71c27a59a261 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bfe6c166-9f4f-43e9-ba79-4c5e02a3fff1 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:62a8d8de-dd41-4c6f-9e27-d03d131b39d6 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ff217578-b1ed-4c72-b1a8-da540624ef30 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6e0ce066-2ab5-4009-8f55-8e997feb8835 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b40375d6-a577-4903-b5a6-c41d20ceb5ae phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9dd5afc6-fd7a-422d-b9e8-8e07e39da3d0 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:31afeb75-bb3f-4ceb-815b-9f8a00aab12c phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ba757144-d749-4a82-87ee-11e735a2474f phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2ea4d240-3fae-4abf-8681-09070ac00059 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e94683fe-fd78-4bc1-b6eb-67c8dda4355a phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:16c7ac1a-175f-41f6-95db-c92618a70355 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:416e84b2-86bc-4beb-a609-b0afc14ce936 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1b587594-1391-4575-841f-5c0c13566f90 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:58d4dfc9-b10b-4e66-b39a-510c483762a1 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8be35428-7c4a-4e6e-b98b-b2dc115147b6 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fc2f6810-e593-4232-8448-2f6ec5f4bb4f phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:363c41aa-7f63-4945-98f6-6ab127ca89d0 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:82af226b-0601-41ef-a8f6-691382029805 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2f5820ee-814b-414a-b0a1-04e7bf61c305 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6a6d04b0-37e8-401a-9d9b-33315877b2c1 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2ddedb93-9b0f-45e0-8b37-f440bbf0081f phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:dbd0589d-6214-41d2-b3bc-f9d850e35b7b phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1ac786b7-f6a5-4185-946c-8888fd501d6b phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ae7631c0-9035-4234-ae7a-58d62b909b05 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a91c53c2-3881-445f-a432-8613389d62f4 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7928a0c6-a1da-4b78-ae97-430dfbf504e1 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7b89deb1-2470-4d4e-b063-b149c26d4df9 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:57daccc2-88dd-4ce5-88fd-3bee9746539c phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:747efd92-e799-4e38-b393-043f3e415f56 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:24be0ca1-5174-4cc6-abba-1ba4981ea99c phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:325419d8-7c9d-42b4-9331-c30986c674a8 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:25fc8aa2-8b90-4624-bdee-fc5de84ab7a8 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8c18dee4-fd41-4017-adda-42eea76466cf phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:75486265-55d9-4613-8947-e75104605888 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:684579f7-84ec-47d1-949a-4f0af05b1d7e phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:de3a5aca-1c2e-411b-a6c5-0665e6fdd971 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:973ce3ad-b85a-4f63-80b9-dcb36fc55426 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a7481398-9373-4b97-958e-299b52d6f00c phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9bdb5bc1-3aa7-4c09-99e3-2d47fa2cd2ac phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d196fd0b-d3f6-477f-b37e-47be905f48fe phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:155f6d95-4e69-4e05-8ebf-c26619d406d5 phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:1051a7eb-bd3e-41d1-8ee1-21cdd69b46ee phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1d157c4e-7514-4968-b84b-7dea129c8ef4 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e21ce51f-235e-4f37-acaa-22171eb08193 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2d223a4b-c4a7-4bcf-b36c-4213ad45b446 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:56504df8-c659-4faa-83f8-c29675d883fe phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:70a37700-2cad-4203-8bdb-26de11fd6f3b phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:623f36d4-baa0-4a32-b1be-c172528a1f21 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e012dd73-7ee0-4106-8bbe-3a2554d8aa35 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d9a9de35-8cf2-4909-baab-ff5e30d8ffb3 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:77aaf70b-6765-40c7-b208-b078caccdbfa phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2afd9773-98c4-4398-86a5-8638e1ae7dcc phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:76354a84-c495-4aa5-8d7c-b49c138d5844 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:db7b9910-7751-4763-bad2-4e2d724d09e3 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8c61a3c4-acda-4eb0-95ee-55c2f6b784d1 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:45880eba-2af6-4f65-a054-d0a9cfcc9f3b phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:26913f47-4ca1-43e7-8c34-0948f39f9675 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ea28db75-a307-44bf-a8c0-a58f7b4b5349 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7b47cbb3-d47b-436e-b2d0-ba2a6807769d phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:06fada8f-93e9-4013-bd1e-3ee6b78d8930 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d3796fb3-b190-4c20-bbb3-7b0264680e7c phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0b7fef64-68c1-4d58-8502-43355633a390 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:064f81e7-bc9f-4355-b2b9-cbfff1815b28 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c5fe1806-ae03-4b71-8c21-322a5928bf71 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:71822b62-94a5-4fd0-a3dd-750fb93a125c phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:20da7de4-0c74-431a-84aa-2da766e24046 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:96334630-df27-4754-88e1-922971ecff42 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:23452275-885e-4d2a-b340-05e14cfeae78 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:63ef3100-d6c9-42b2-bfd2-1f7294d59ebf phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:719629b0-3e22-43ed-9dd7-f651d03eb8c5 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c0d000c4-98ab-4296-b200-305e9dc96ba0 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e4f24cba-1e38-47ec-954c-94afadfe4a86 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:10996e79-9c77-42b5-b8f5-3b601ee016b2 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2a4b589d-c2fc-4282-b853-047ab366e3fb phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5f5c85e5-0302-4adf-8cac-2da27b72a54c phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2e48710a-d606-4aba-a069-22c8530cfd09 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:66d9df99-929b-4be3-9438-c326cb3d5cb8 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9ec7f18e-c5c2-4bec-acfa-547960996053 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4e85a862-9467-4d26-b81b-27bf25da5cad phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:041cd49a-ea52-40f2-a726-8f25056612f3 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3c13f2d4-e2b1-43a9-b0b6-accf71c7c4eb phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f25e1144-eefc-4289-9cbf-8953fea7d2e9 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:35944506-e8bd-49be-a941-49a3008ac470 phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:2c3725da-225f-41ab-9773-be5cf1a66485 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5de0f8f6-51d8-43e4-852a-ec71f02b6d4f phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b3c75fe0-02cc-4817-8034-6ca2ca53408b phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:552bdfba-29e8-4b76-b7c0-24e5a22995ef phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:49c0b757-dbfd-4002-bd13-78824dfa8110 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7e3fc6ef-50e1-46f1-bda3-feed2d6f9632 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bf5434c9-29a6-4810-b418-567eccdbe89d phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:490a1704-9047-4cb0-96fd-45353258f61b phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1f718165-2ca1-4198-b6ac-e15d6351bc37 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f564b71b-fdf4-4110-bedf-aa1273257b1b phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f073bba4-146f-444c-ba8d-1c02ad19b790 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c2eda83c-339e-43b5-b746-33e37c806387 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ebd4f35b-4f00-4548-a3ae-9e3c4b914fc8 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:9d350f4f-3422-4128-ab9f-48d9d0071738 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7985b012-ad59-401c-a77f-559c0875077d phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fe68f22a-c152-4521-b121-fede319c751b phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0a1655e0-5c47-480a-8786-57c7a1820c4f phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:05dbf92a-2610-47c8-8ffc-757eab926c55 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d808ec26-a812-46d4-8e9c-04af6c3ab1f3 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:38bd6ca0-407d-4e4c-bfff-6f4c4e41426f phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e12da37b-c9d4-4f83-b1a1-ea508c703163 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e6474014-0373-4e74-8c63-b28db5adb645 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e66f34a5-c9ff-4209-982b-dc4edce9a425 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:23a7bbf5-27db-40f9-920b-c272d5191d68 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f6515834-56f1-4265-9418-58e63a4ca471 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:18854761-573c-44e5-8148-59dbac4b8213 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a333daaf-c4d9-4420-b8a6-dee1ba74c0bf phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bb18cecd-fcb6-459f-a18b-0394de750f90 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:25b4bc84-b84f-46c5-ab94-3fbcc76508d0 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:43c1d1f1-e390-46b3-858f-23d74210cc87 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a5d6a2ee-9d46-4e01-9f2d-ae00273a6434 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f1df659e-73c5-4684-b967-abfe2e5e3de7 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5fe02b56-333a-48c7-99da-a84f09755b0f phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:45b30883-b3ef-4073-9197-e951bda17736 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:07640148-a96e-473a-a5cf-94b7a8f64b77 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8036615c-7aa9-4873-9fa9-d6ee7955fccd phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7b6cf1f1-ac93-4b20-883e-91211e65d74a phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3165b100-5740-4a8c-bf9d-bc1f7f02774a phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d54858b9-3a84-4938-b785-4ce5e6a3ea2a phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1148e83f-0834-49ac-9433-e11df4b31417 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4fd2f13c-86b2-40b6-b003-c08e905fe19b phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:30fc19cb-87a3-4050-96f2-12f899e44179 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0e2d166e-0199-478b-aa65-6eb10beea998 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3d7b5ec0-e5ff-4ca0-9ff6-acc3de2431bf phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8599dc90-5377-490c-8990-461f24656b15 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:66382964-cfc9-4df6-8371-e3cba1116c4d phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6f9f31e8-9c5e-491c-84b8-11159daa5ff1 phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:11b5f680-466e-4f17-8fec-266503b8214a phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:20c4ed11-93f2-4b10-908e-7c96eaec2176 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:ce25b83f-3b3b-4fd1-9c60-8a6f8d7c7934 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:8b5dccb3-e9c8-4881-895a-6d9a9fab730e phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:25fd5e77-3a45-4c0a-9c8f-8b85ab1ff3d1 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:7eddc0ae-f7b8-45ed-b37b-a0c9776a9504 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:a0d259b1-33e9-4c84-8a48-ff775431bbf8 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:11adbd4c-5e0b-4c74-b01d-8019a8f3bcae phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:600df18d-c1a5-444a-95d9-b26b1ce44575 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:5619cf64-cea1-4a7b-a775-aefc42884a89 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:526ce716-7ebd-402e-84ec-458722bb7b74 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:90cc1d1d-b2e9-48f4-a4ae-e8f01b28a287 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:33bcc4a0-3153-4554-8c3c-ac74f8d88935 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7a26a3f1-a33d-41a7-bd9d-504ebb2663e3 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:64d0a80c-bc7f-4a0d-b84e-9afdb54f6b8f phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:84c6cd8f-8cb5-4f1d-84bb-8727b6950ca9 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:171021b8-cc20-4261-8857-c6c29ba6d34b phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:317c4051-d24f-4c55-8389-803149e42642 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:72278404-e251-4fd9-8c03-0f1a29aa3903 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:eb2acf1d-2031-4ecf-91e7-190f667f3f1c phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5f5a2084-930b-45ba-9ed5-c784f20a170b phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:4eccb140-11dd-4337-8ec4-faa7197370d7 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dfaefded-9c3f-4a70-87e7-41958de7fdc7 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:15abe796-4aff-438d-b890-4202147da52c phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c5046481-4a5b-48df-91d9-2d555f6348fd phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0c0e6a3c-61db-4dad-8841-e08847757272 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c829e937-be55-4378-97f4-c6e4bb9a7d79 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d5afcbfc-cca7-435c-bc63-f5f5a3db85de phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b4f03062-b732-4214-9e2d-878620507d47 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1dcda843-4699-4cc4-ab72-635f5a85c131 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f6360c28-425a-4e06-8875-beb076582664 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c9d8023c-7429-440e-8f47-4adc37d9b31f phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:b436ce2d-08a3-44a9-a8cc-3c837ca3c1b4 phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:1ae298ec-11bc-461a-82c0-e10c894e1909 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:23137e83-53cb-4735-9ba7-15ff2f7a9a8f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:88fc97c0-75e3-4dc5-bdf7-4c40a8c2527d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a569d802-447b-45eb-8237-b927f7b71228 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:7e868921-b476-479e-89e8-85c2ccd36adc phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:56854ebe-7f0c-4bcf-ab08-e4a42ccd5820 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f6c3157c-aa5f-4919-a7b1-8b0ed044a594 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6af6226a-c01c-4c3e-88eb-e58fb52b5ba3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:8167de2d-e07f-4d8e-94cd-f9e3aa3d9558 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4b33d644-5b4b-468c-a539-7534a3802a81 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:1634e6df-3f0e-46cd-9101-ce34c8e5ad80 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d8e22a00-4218-4cd6-9a95-f614ad25cc7b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6a0397e9-4d11-4b87-aedd-e09eadb5bee8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:b6c3f525-d810-4fb7-a8ef-8d914976ff09 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c7ab0b44-443b-4666-9721-a8ec41908635 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:17f89dcd-c6f4-455b-9905-0ffb3a4a9255 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:5b5e1906-ab62-4f54-9982-f6ee5ba625a5 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:64719a14-a373-4565-9ed6-390e90f4c617 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:b7ee862c-8d59-46fe-929d-c2b4f11cc261 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:175f3ed2-81df-45ce-a1f2-f72cfd7e433e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:bfe8d5c2-09e6-4385-ae67-f6541ddec26f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:59ceb322-db14-4cec-b92d-f6f9c604e5a3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:7074ffea-8777-4c01-ac4f-7bfb0dd61396 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2d641df8-aa39-4081-9cd2-5d3167066bab phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:427add60-9f45-457f-b4d8-d7ff00df2f66 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f0171ef8-8c95-4a1e-87f0-1cb8dc5a3a2b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d4c0bc25-042e-4d7d-a71c-3cc88717eef4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:1133e625-c442-45ad-9041-932a9426e967 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:5dab33f3-ef5e-47b2-afb3-cba26c9fac07 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:eb74d310-1f35-4d4c-80d9-8f8aee1960b8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:6260114d-20fc-479f-b162-f9d596ee2a47 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:9bf73321-441f-4be8-b2af-9f99d27e2cf1 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:cb2274c4-0780-499e-87ab-626072d531d6 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c59559ea-dc19-412e-8dfc-060be054b8d8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:f065d6c9-d9d1-4762-ad12-e6f19a5caa5d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:b12782f6-d845-4cbf-a517-9941fd607c28 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:bb6126a5-a8a0-4c0d-8f74-104c46981d78 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:a0f3c702-e1ef-459f-82cb-6d3ea3112241 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:acfec0b6-cb3c-4c78-bcbd-4f58414fea7a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:2888e573-d675-4531-82bf-dfd376c7c7e1 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:882beedb-9299-4638-b20f-4bfa38cf57f2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:e1979261-0224-435a-9624-68a210525334 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:8fcf0c28-e11a-4df0-92af-d56452b6a5c5 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:75e349d0-d4d9-4bdb-a60f-716247a07ffb phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:34b3ebdb-7000-4044-b58c-6f4af45a7f6c phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3f8f0882-76c6-4591-a428-66a87b1d4bbe phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c1690bbc-e458-41ad-8956-f713f42fe4d3 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:120aa3c5-0d94-442b-baa3-462d8a29b4b4 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1521a0b9-efa3-47cd-ae6e-91072f86597d phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fabf9423-f436-4304-9a49-484d0b110596 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d11e4a91-4603-4173-bcff-650f33af3b01 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1d8d31c2-ab91-47fa-a8c9-bfd97abd2744 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:60274e4e-38ba-469e-a5da-6dd6459eb139 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:88ebf080-ec75-4a91-ad77-6140e725e6e3 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ad091bd8-c27c-4613-b182-a66297e8de9c phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8760d3f1-39e2-402e-9a80-de0316227566 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:80713bc1-e118-43cb-864a-d237b19ab6b3 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:04d82412-a401-4f6f-b11f-0a64ef7a235d phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6b1080a2-9f34-46fb-9cef-b39b3e9da69a phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:81f36258-a740-433d-a0aa-39ec8cf0e4ab phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:577f4a51-d860-46b7-bd3d-8f74423825f3 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b197491b-b733-4a0d-8184-d9ed4e531bd4 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:81d412c6-0b28-47db-8149-aae74137fe4f phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:63d44ad0-47f8-4298-a8c8-c84ed08b3c67 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:679b6d58-b44a-462e-8470-5b4a6dab3307 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a9048916-2354-45d4-bd2b-d23e00fb9f9a phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0183f3cb-455c-4d1c-8faa-66197f6c3b8c phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1a878d83-208d-46d5-8744-19d90f38236e phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2b47da63-554b-4011-a879-77753731f67c phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:22ee5fd0-bab5-462d-aa9f-03e3eb726101 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4fb1eacf-8417-4c31-826c-04164b25740e phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3fa58fb0-c881-4be2-86b7-fcc926cddf82 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f10ee313-f414-4432-8f95-57514be31d8b phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d5acedd2-e9a9-43da-9ff7-e61caaf42c5d phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5fa9d07c-9c60-4604-94e7-53cc14671ccf phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f0d46045-e61a-4efc-8b60-d9801b9fab6b phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:db4f902c-1c98-4c4b-95aa-33fab7c2b632 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e334fa6a-7833-47b4-9b52-012ef7132af8 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d602715e-df07-4473-bac9-f38bce6e0092 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:17554009-de1b-400c-992e-82b1198615c3 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fb91d7f6-37f5-4a92-8806-c49269446e72 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0c2985a1-d0e9-4512-b6de-f65b19e94a28 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:38345380-c6bc-4196-a88c-91fe5cc24da8 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:15e95264-5258-4a79-9346-8b5f39e9055c phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cd16d729-478c-4aa4-806d-ccd9d4bb8b42 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:64662c51-34c3-471b-808d-ecfb18816f28 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:71dd3182-7001-4c12-af25-c5d352d36ce4 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:317f2464-f98a-4a3b-bb60-5f4f4e2170ff phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e9b959fc-401c-4d1a-93cb-ff09e22118b2 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5743fbcc-d01c-45ee-87b1-fb664f833cd6 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:93334799-c67c-4997-803a-3aa23ae5938b phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:afb33729-b357-4118-a932-a1e693ea50fa phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:c564effc-7704-4a4b-9e57-5fb2047985b8 phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:f171e1ba-55ff-49f3-a174-a27308f9ee80 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8502d9a7-f406-4e9d-9524-74b7afd107ed phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:9956a9bf-e6f6-4949-81f6-aaf08dd9e281 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3952574c-b95d-4137-b480-97186754f717 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e4141728-0798-41e4-9952-e6a244fb97bc phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:669d566b-b8e1-4f68-a5ab-9aaa4fd98ed1 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:197eb8f5-9b29-44b7-97a2-755d0c69bf0b phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b2e788f8-8b93-45bf-8560-4362e3fbd1e9 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:aac20351-71b7-4ba3-a701-48398c89002c phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:015a4d3a-5b41-44e2-9705-7609479c7f2a phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:631c54de-4d35-441e-bfdc-7447d36f408a phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:94126ded-4fc8-4747-91ac-f72414dae59e phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7e6b4fe3-5c24-4b29-b2de-4eee0db6e9d2 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:71e87fc8-e967-4b83-98e3-7a2deeda5b30 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3f19c04f-ad75-40c3-ad08-f8e2b0e7ab79 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2f37f942-03dc-48dd-a37e-e6bc2c2a2090 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:baf61c25-9d61-4588-a286-beccfc7a5ddf phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:963a85a8-cb04-4e98-8cc1-39d209fb067b phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:33f99e16-6140-4615-a942-b92d144d42b2 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:eb28d145-f1ed-4b97-8080-91a02de6d1c6 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bdf7038b-3871-4155-92c8-3d13ffe80b12 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cc3d1e62-7658-45f3-add6-7ea7ef4ea999 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b5207701-9851-4ef0-88bb-5d8bcd933437 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cf46f20d-44b5-4f58-96f0-ec705d6c8cdf phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3d844a7d-5de8-4205-a220-b45564eb8c41 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cc6ebeb5-ccf5-4668-a49d-da1d5a80b146 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:39ccd9e5-7ada-4fbe-9dd6-1361a6d19efe phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8ce58b88-e453-41dc-9f52-467cd2829a46 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:307f3003-57c0-4ed7-89e3-2c19b9ef488a phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4a44bef4-4e99-4491-8011-f0548ea39262 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:681edbae-77c1-4b9e-a6d0-7f44dd945a91 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:adc83555-0fa9-47e9-bb8d-b2fd58e79ab9 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a6aabda9-cbed-428d-9df3-8829acea2c3a phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6951b9f8-4b18-49b1-be8d-d0c2c7659882 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bb96d420-46ac-476a-b581-d615fdf40f68 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:48dee540-0267-4825-90f7-b0d5e9f49a43 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:56033342-c5f3-4988-ad7c-b2a207656e6d phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:51aba43d-b2b4-4cc8-93f6-5a735393abc4 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:847650e9-b100-4951-8b62-61e1ad22ad04 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2f1a71f4-1acc-451a-8eff-f6538ac79a67 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:311da81e-2645-419b-b56d-bbadc6ca51d8 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2cfd57ca-3acc-4a47-9820-ddbbf860bebc phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:11a005da-9068-4f3b-93f7-89300b3c994c phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d873c505-93f9-470f-b9e0-c54fc950550d phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6f67a18f-f3af-4f56-a28f-114cc86668a7 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5e703b96-97f9-4adc-8d76-986cd1158228 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:81f0429d-cf60-4a4e-81e2-86cf281a2c54 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:cce94647-2e77-4bc6-9bcf-fb7013bafe07 phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:d3a23430-5945-4b77-8db5-5e57f7a976c1 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1c67fd8d-24f4-4313-988b-4a34530e8abf phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e3ce37cd-b820-4cfb-bce6-aed487af7f53 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:30d05066-e61a-43e5-8190-a1709ab3da91 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:aff28d52-1b32-44bb-8a23-f7101e8f2e3e phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cd3fbf82-92f8-4c76-92cd-0aee8bcd313d phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2b157e2c-452e-48a0-836e-ce06793b2d2d phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e4b7a7e8-7329-4b0d-8d6b-a05b57cf0a55 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8ebdaae5-ddf1-4c32-87fe-af868b2f1193 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4bf41ea8-2712-4d1d-9c6d-5292113f0124 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:19c53016-ed1d-45b9-af29-527cd3be103f phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3c402f58-c86d-4077-9b5a-01384e7ac1ed phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c7af24bc-a952-4960-8a9f-d8f5b5fb654f phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:94c11630-bb1c-4640-890e-42feb4290fdd phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:91aec20e-22dd-48c3-88bc-6c1139360a93 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0cde16fd-cf18-4df5-a5bc-d4a9d527e1a3 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:14bbd94f-b423-4505-a8b9-7d71c2d9e746 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:953551d2-7443-4de0-a915-f8c2386d78b4 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8bbcefa5-44fb-4736-8e6a-6ecb5ceb70a1 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:807cee4f-45e3-4280-8b55-6943ebaf386c phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ee35ad1f-a653-46b5-a4e0-0c652830f296 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3bc43129-5d2b-4fe9-b582-38107f1e5512 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1379e7f7-b980-425b-b233-9aa1ea811e8f phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2f585de5-779a-438c-b626-ebddf307da99 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:73303bc3-07d7-437b-9ec0-ccc873bca31f phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8a06e1ff-20b7-41d4-9bc1-7ea190951ce1 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:92e7e686-d0bb-41f8-9d42-7cd98c7abf39 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b7935464-01ad-4ad2-891d-2af9a5700278 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d4439a6b-477c-43dd-bff4-e1ea7e9dcc9e phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b3ef1930-3cc4-4230-ab53-fdd7848cc926 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:feb1d9ec-a7c2-46ee-99ba-b37efffb5efc phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3e8c93f5-24a7-4563-8522-dd17bb0facb7 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4d42519f-fac4-4065-b530-880dd8478472 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e2d54518-5312-43ef-8c63-3f86e39c159d phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:83719c80-14f4-45fb-9507-74e3f00f62bd phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e11bd380-f87c-402e-81f0-afdede9f6fe0 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c5c81e90-eaf0-41a5-a2e8-4f248916ffcd phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b5504786-a0f3-4718-af8b-b6bdbcd5e550 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cffbeb7c-525c-4211-a7bf-ac38030182c4 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:43940837-fe40-4130-bf1e-652727692e12 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ff6c2a97-d22f-4e6a-9ab1-df703d3a0451 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4194581d-4716-4397-b73e-0589f928378b phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f4636344-8499-42c3-a0e5-d09b5c052a70 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3de8ab33-d99b-4a92-af16-d4e9dcad206d phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5a4699d2-e9cf-48b1-9f43-f184f9ce0d19 phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1ed5de4a-0e30-4699-87f4-e2d37a956e0c phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:789fe01d-466c-476e-9f86-9a1ae559688c phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:3fc9ff3f-72bd-4d3c-8416-f325ecf1ab7b phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:d1626fab-0c28-46e7-8470-b0b507bfde0e phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:7180f51a-2f7e-4cb7-b4c7-ec98f645e4ca phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:5a88fcf6-b88d-4fe2-8346-6e4f6554aea9 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:b9a9f50c-9443-4009-918b-68127a777bb4 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:01b0621c-cd39-4016-8055-38dff9d0f831 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:e7213dad-f364-49af-9935-ea797011ce49 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:f2d46715-50ff-4ea1-add1-907f1fbffdc8 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:2b6036ad-eba6-4fed-a3df-3a2c18e91de1 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:7f8d6787-7ede-415f-860b-d04f94605345 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:1f25c97f-217d-46b1-8112-d0b570b4b1cb phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:f3b730ca-9d28-41f7-9841-e47a284fa3bc phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25447906 uuid:ba611556-1645-48b3-bf47-fbbcb33ce752 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25447906 uuid:efb81e40-739e-4544-8837-9eb94c5931e5 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25447906 uuid:9214d348-b2ef-406d-b9d8-497749c9f7b6 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25447906 uuid:08d641f9-078c-4a97-b9a6-611c222cfd5b phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25447906 uuid:38204e8b-901e-40ea-a0e9-2a49b39679e5 phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25447906 uuid:6d5f8788-58a5-4acd-8b0b-bd2cf4290e38 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:03c836bc-8c13-454b-a4c0-3e20e9448529 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:3453cc55-c0fb-4f52-9627-e1d4c9bf50d6 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f1c065b7-dfe6-4a53-8771-4180b4df4708 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:2f110f01-5232-4795-9868-7512c84f122c phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f29b0924-dfc3-475d-9173-471a3a7db08e phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6d07418b-c509-458c-adcf-bca6d882ece0 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:3ddd41cb-2adf-4369-be6e-0550330bdc00 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:d5e07bb7-6652-43a5-ad73-efb9e336cd16 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:f91ba944-292a-4bc0-9bff-4250fabd3391 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:7793c28a-bb46-4a04-b2a5-bd52bb31ba21 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6bc03da9-07ea-4afb-a854-d9a1ed5d3840 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:ac9388b0-fe48-4efe-8da0-27c1e7254547 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:cbcacc29-79cd-4c50-b629-5c561188aa48 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:4a40aa0d-45dc-42be-8cd7-4c30c38a67de phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:597f0eda-95ba-438f-81ee-adb40c0b191d phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:80e80cbe-6dcd-4a6a-87fb-6f8255b9dd69 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c5800608-069b-46ca-a962-53e062ac5c0c phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:ef7887cf-242c-49d0-b71f-077b6b1dc1c6 phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:611f0c12-c844-4347-90a8-aa7ebc33d7aa phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c8887426-d4d8-40fb-8b4d-ebd9d67ae13f phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c6346167-71c1-42cd-8e5e-fc5562bb8507 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c6525c6d-53a7-4f5c-a47e-d6660285089a phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b3a79c90-827e-4937-ab8f-3912d66750d9 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:5a4f6239-386a-406c-a481-22cd78735617 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:83f7a348-99f3-41ee-833d-90f7131b830b phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:9141dcfd-bcb0-4a43-a782-9864f32b185b phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:166f64e0-6e80-432c-9e09-529bd537d29f phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:8eb01948-dbfd-45c7-af2e-3ff1e8d47e5b phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:72074b77-f0ac-47ae-a8a5-d6b8c4bce352 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:e37c879b-ff0e-45b9-9294-9897251800ab phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6a08fa44-368f-406c-9dda-448c8720ddfd phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:71f634ad-7e69-45f5-a012-b5e21bdb3963 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:3d0a5144-885d-4fcc-9567-f45d9bd9d51f phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:ce68ce9f-4b6d-470a-b349-8b129161b0a3 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:4c7076b3-1d3a-4e90-b066-e3c3830d8fbc phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:de3921ba-9b4d-4eb3-90ce-8dae56cd706a phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:df3d1cc1-71cf-42cb-a14f-3d2af16e8189 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2063e96a-5836-469f-8228-8894b49ba5cb phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0a3f5f59-c3be-4d32-88e9-429b6ab0d2ef phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:52ef9f1d-098e-4f39-b17b-a4e5bc40c73c phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:84c1595f-71e5-486c-9ddb-a358a6f6ab34 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:99a32cd5-9c64-4cdc-a245-024e16f4415c phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:89ddc561-03a5-42f8-8594-947706e3264e phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a1d7f6e1-f207-4e59-82e8-7eb5a54529c1 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:81ddbb16-0f0a-4193-b93a-e4361d47e382 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ae0ed8e0-29d8-47d6-a9e7-aaa9b337cf26 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a9a98c3c-4d08-4316-a2f4-37fa844e205e phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:48b78d78-8cab-49db-95d2-35b075d80cad phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f9e44421-2926-4f02-a6bc-15404766320a phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5dc7f1aa-a5ef-46d9-82d3-0c5c84c642fe phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:189ee4eb-ec65-4636-aff4-3518d1c79202 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f2fd64fe-8254-44e9-a532-475a8517a9c0 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a9833cc7-6a9c-4184-81b7-39cc0e133de6 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:011b5566-b37c-4c7a-9eed-daed3475b141 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5b2e2c2d-99ad-47ef-9945-d8d62aaf4a36 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:670e4492-3f7a-4801-bc0b-6b71c90d353c phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d6d03bf0-37ec-405d-a975-62ceb2af597a phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:42a67ccd-bfef-4f3d-883d-22acd450525e phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9a0b82db-c596-4f7e-93ed-3b706174cfe2 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:59c7090c-953a-428f-888d-43a9a51d0944 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a98ee239-1375-499f-80e2-03ec4d36e1e1 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:478a72f0-c62b-4ed9-9951-6a20b160f023 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8753191c-c991-4876-aa1c-cfbd8c889348 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fcb36db7-a856-42b2-add0-31e8ffa277e5 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:83fe82f3-06e3-4100-8568-7141c432b291 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:af5f6a2a-d836-49c0-bb51-9f57bf81dc99 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c10d9159-9155-49db-bae7-a6a64a28daa3 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6c1e2c22-133b-409c-84ec-e5cd7bbfeaa8 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fc8cd267-b264-431c-9442-7d89672ea315 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:99953a5e-2f8e-473d-af2e-2dc8f5c74ad4 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:eac48803-de29-4041-8917-001d7321d0bc phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7bbddc50-18b8-4d96-ab48-a6e9c7eb5bc5 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:db9bdc01-73e9-4ec2-a77c-503efaacc3e0 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:64bbd151-905e-4936-89bd-e07fa00e93a0 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:687d3b94-f5b7-4eeb-906e-0827626b1a26 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:035f7672-e98e-40b8-a8c7-7bfc938d0915 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ec12c301-2d4e-4508-9070-d4d336c542b3 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:9f303ce8-8f7c-490b-8baf-3012d7ec5e82 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:38ab041a-05ba-4607-8a9a-a8fbd0ef75f1 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ec38b873-c3d1-4fce-8778-0b15f45c1241 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1ae23c77-387a-4e3b-abcb-c618471ccbf5 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4713ac28-6b0a-4ef5-8d6c-6b623c77dd99 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ede930a8-0bec-4305-85ee-a45f4eeac395 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:69daa32f-b901-4352-8e16-1ae426b46a83 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c4212bf7-3a15-46a2-b29d-9e058b3352c4 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:88f5d644-d4bd-4598-8100-b92c51706dbc phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7ab79533-b6f0-43c5-9354-0e8513e34fe5 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3d82fe4d-19a0-4fa7-8210-f03436c03d4f phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c947107b-1fb2-416d-a96a-e1d3431d4159 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e499744b-3303-4760-92f9-e7b0f1a00721 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5a57f44b-9f30-4a39-a231-cce6cd10a76c phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8da8214d-fb93-4038-a304-0fd1b7c37eda phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:52e91933-ec13-4805-af4a-5740fd47acce phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5678adb9-1840-4779-a704-e7691aa87f6f phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7a0ac64f-300a-4da1-b566-344dc9b862c3 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5a977bb4-6c11-4e81-8bac-6e7ff2f21a05 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:9feeefd9-12b7-42a6-bd2b-872ff727beff phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fb91db1a-1e02-41eb-bcbe-88990a8c0e06 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bf8c2e93-3035-40b6-9694-a11feefa29b7 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c3db5c3d-9a1e-4854-a3d6-ed3fba5f779e phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b48dbb6d-40fc-4e32-a646-782c399d7759 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b4948313-060c-4466-b558-bbaefc8ac38f phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:032c2614-a134-4d94-8a5f-dbc3e0aa80cf phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:16eae077-6a81-4296-a7d8-c7818c5f4312 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ad76b73e-aeac-430d-b6cb-015a40311aa8 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:87a8ce45-e1d6-4fe8-b7e5-2f18fbfd6993 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:73165406-a1f0-4dba-bffa-de49af807467 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2daf6ac6-43dd-429e-87e8-4dd0d2886bed phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:761693a8-0d5d-48b6-92b1-e85b20bdaadd phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fff4c7cc-97b3-49d9-9171-5f087d6b2ed8 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:45b5aa2c-0491-4833-89c6-6e53ad983750 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ea8b112c-0949-4175-ba27-6b7f1d3760ef phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9ab38686-03e7-4663-bb62-2ed5a9be985d phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c3b7f8a7-7fac-4bf4-99ff-fce69a5ebb08 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:107dda9f-bed2-49a9-b9e2-3b2902b536b5 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2d5596ff-1d41-4040-b258-205c1e82ef20 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:df28125e-350f-4fcd-b7cc-c7fa5bda8092 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a4b76ae4-2e0c-4aef-8103-93b2a8a272d7 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7dd7cf5d-9414-4d23-a5dc-6677bdb1166d phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:277dfecb-08bd-49a6-8e82-4f7511340316 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cb2197c5-ddee-410e-824f-007ee4eeb8f7 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c297dcdd-1886-471c-bb58-3d828bac5e46 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7eefdf8e-a610-436b-b800-56bea103816a phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8493e871-ecba-4669-bf7c-e09e41b08a65 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:645edf6a-d04a-4086-acf3-7f134b2071dd phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7b829f12-d50a-4c08-bf39-3abb566c7893 phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:519f13db-6c2f-464c-85f6-5f0c6c13d5ee phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:6ef34dde-3cdd-4b6e-b7b2-b3b984ac667c phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:54c6160b-a622-43ea-98b2-539359a5916e phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e3ef8d0d-7165-4130-964b-5136ac03844a phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:786a02f3-42c4-424c-bce2-17e5cf8d766a phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:db568868-7423-432f-9f8e-945c37e5ef0e phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5dc0063f-ef13-4e37-8820-f34a211ce557 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fc1b1b57-0739-44d7-b1dd-b29cd8349084 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:41ffffc1-ac42-4346-a342-468e2a93781e phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d55223d7-4e7d-4fc8-9703-b38cb3aa50f8 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8c974c59-5d62-4fad-afc5-4e4f835fb8c8 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fe65a469-7f6c-44a1-9346-24d99c1c6746 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e627a38d-34d6-4733-9f3f-c280b22c9a5e phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3138457e-d2a1-499a-842e-67d55325b1f7 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1a4d0496-4c63-480a-bcaa-05a9a177d099 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:56e05607-eddf-40ee-937a-f32d7d6860c0 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:596e973f-cc30-41b8-9b10-7aede0b31d09 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1454694a-25f4-4bc8-abf9-c318a9c46ee3 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6d531b38-a1bb-4367-937d-cc6e1071f695 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3e52a83e-927d-48e0-bf0f-f51be71e4efb phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ffe7b758-1a68-4b81-8ca3-33af7ea21907 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:21cd8180-e4c0-402d-b4fa-9627028b0b59 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3851c13a-1b7e-4f00-814f-d3ee3a0a4e00 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bf0e3ffb-b3ba-4b3f-8091-52ed6ab92a2e phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2bbcee3b-bb1b-4fa0-ad66-ec80b3305115 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f7e85c43-d7db-4478-974d-05b5a8574c5c phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e8698e93-02db-43c0-b815-de36151c6f91 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3de0cff8-ddfd-4e16-85c0-650a4d9b3cc5 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6f4ce225-4576-457f-be13-e620bdb1c325 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:018298f4-6fcd-4aca-8352-01821042b5e0 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f6b0f52b-89b0-4e48-9a02-1503e4e3dc1d phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5b35d97d-5d1c-4d1b-878c-c1340ffa5113 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a95125fe-2bdb-4045-a321-6e764e8d697a phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a2e748c2-0f86-440c-8fa1-918db77361b2 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bc991817-ff82-4bf2-a707-9c19bd228ed6 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:754234a9-2160-4b93-9b63-dae13237f6ab phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:27b522ca-edf6-4dc3-9e43-60e5686defa8 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7fc88e02-1d28-4e83-80f6-e3d43772444e phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fc617880-c367-423a-aa4a-900b209e1c77 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5b149410-655b-4134-9e3e-65d0bdec60f8 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:27c524d4-cc58-4761-a6b9-68ea6a9c769c phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a599fa38-fc1b-4153-9c8e-1bc21d713cfc phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2b3cb1de-6147-4ccf-ab3c-bd1817bf9e99 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f8d72fd5-5c38-414d-8ae4-1352c5b9011f phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c8b1dcd0-6e5d-4031-ad8f-8489820094f8 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d36bb98a-0956-46c0-a4fe-81f4343dad54 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bb6ba4d3-c0cc-4ff7-8e8f-0cb5f8742ee8 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5c0dbb0e-8619-49c1-bf6f-b58a092834d7 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:e61878fb-967d-4fd6-8da8-01b872ce1c55 phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:92874208-cdb7-4a9b-b36f-c0a430f0da47 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:b11399c4-17f9-426a-9e91-a4f64fe7ee15 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f1be7f13-4d06-4cf0-9955-aaba51ee2a5a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:287b13e3-8ce4-4d47-b5ad-c41ee32ff0fd phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ceb58f47-ee4e-4687-8899-b6d31e200947 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:0378d111-4efe-4606-9cdf-9a97f036ba43 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:1943f95e-edbb-40c9-a2a1-4e205fdb8ce3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f4d7947a-d40f-4de2-abdb-466d38a7ab26 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:34f1450e-f9f0-45f5-952c-4cfad0481963 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:7b1565d0-5309-4fc2-b9eb-29d9d04d9ca0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:29eb8f6c-4a1d-4e8b-aff9-6a48f466d60c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:0e30d05f-c3f9-4447-afa8-b8500f362efa phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4b65681e-554c-4e14-af48-ce99392423f2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2ffbe419-24f4-4b29-a44e-5afe05f19120 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4ecdc6b0-621c-4b9e-9f4c-72a2010b5215 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d19b06d9-a1f3-47d2-b796-a198ff1f3954 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:0e44f114-48bb-4578-9edc-968197dadeb4 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:f7362b12-37f5-4731-ac1a-e4416471f314 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:cc252f74-f62e-4e59-a8f0-49a53f7557da phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:dc06f96d-f996-42ab-9768-da18c543ec48 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6a97abdb-807a-4ac0-8559-35fea4c565f0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:dc96afed-7332-461a-816f-997986ec667d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:dfe59a7f-92a5-4fe4-8b01-034d7fd17609 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0fe526ee-c0a0-467c-9d02-abe22a749b44 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:31fb30d5-1144-4b2a-9693-fcc4f325188f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c39b68e0-b7ac-4014-b77e-4a77160884b2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:5177197a-f4d1-4251-951b-080457c91c36 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:82e7e680-c2b6-48c1-b707-a0d2ad5c9119 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:77b505ed-5736-4e2f-81d0-d2e7f8822cbf phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:25d54f63-4731-4cb4-96a8-a0a8b87fb60d phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:19592664-949c-4dd4-b62d-d3f0655cd833 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:ea460e80-e416-41f8-b78d-35e3f46d6f5a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:e78acdff-bf1e-4ca0-9451-1d36132b0716 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:45579196-b470-4dab-a571-0fcf180e6f16 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:56b7a68d-9fc9-4509-9aa4-3ee7ffa0d912 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:277930a6-eff7-4522-b951-03df84c3d93a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:3dd7caae-a9ec-4323-8632-c51ff9c17e5c phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:cfb82d7c-1c25-4a7f-944a-1e9c7a4242b6 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:452d6ca2-1a23-42ac-88c1-9ea9dfc07ae8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:a0b481fe-75e7-4168-a35f-aaed39aa37ca phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:cedac339-4953-45a9-8227-e638bcce13de phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:1a9186d9-1792-4584-93fb-4b2688e8049b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:4983b790-960d-40ff-9517-c57784d43452 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:a16c29db-b213-460f-bc0f-e320c614ffdc phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:dc52a84b-99fe-4dbb-b32a-3df392652819 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:db4f0826-7881-403d-8a30-9347e875690d phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:c356d332-2b53-451c-98ae-d518a074b9b7 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:5ded05db-7600-460e-afc6-46681878b04b phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:abd9c0a0-0837-438b-8be6-1d67365faba8 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:64a260d4-7eed-4b61-b923-88af86c2923c phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:ae9d6af9-8646-40b2-9d3d-4759c488effd phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:78d98bd8-4ff0-4606-91e0-4d8c71135ac7 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:b7cfb46f-f23f-46bc-ac7a-dd6d48ecd9c6 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:f48436c5-528e-47a1-a887-95148c3f16eb phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:c17e8b49-1df8-42cd-8c2f-f2f5b9b41b44 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:11282e20-9000-4e12-916f-b80da743109a phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:1a596a40-ee8c-4791-9ec1-d77a94ed3256 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:45a20733-dec9-4468-b937-a9633a0b7302 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:ed760987-3952-41e0-bb23-8ab8bb791b5f phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:6c78c7c0-0d9c-4e8a-90de-78a0d30922ce phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:309ec8a7-dd0d-4c1f-8bf2-9c9d6426d763 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:41067d16-39ae-47da-8c59-020aa32c2fac phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:b968bec2-539f-4aed-9f18-6dae86846b56 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:16f18a7e-3ff5-4e3d-b52f-89aea3660d8c phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:1d6675da-47c9-4dc0-9a04-904bb2252ca8 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:e0c1f6f2-69e9-412c-b40e-8de103c5b729 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:65949934-055c-4d56-8d83-8c958e4ec009 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:1fca0d64-20f5-4ef4-9afe-70935d0768d5 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:c51c2146-4695-482d-ad2c-0124560e2214 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:8813362d-9d46-44af-b12b-d536a82dfd77 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32074972 uuid:981af2b1-a2fb-42df-9d76-be681a25fe22 phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32074972 uuid:66a5a01b-1886-4fe0-b957-3cc962ba3085 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e600dfff-a63f-43a1-ad63-f90cf8b58d3b phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b2e1ba2e-677b-4eb0-8154-6d9805cc516e phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6fcd7d71-227d-4dd3-a934-afd8609d9cef phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3f3191e1-9ab3-4397-9a28-22b8e25be39b phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1ba03a8f-0d8c-415d-960b-84635a72f082 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e2296ee0-60da-44c1-9f24-63845ad611ae phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a3cefcbf-9ab2-49eb-b561-e32182a44667 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b2e86e86-b6e3-4cfb-8225-3ae906718d8c phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:828cb75d-f9b5-46f4-b389-1611231f0eaa phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:93bae5e7-d011-4c70-96fe-359f3b61cff0 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ca2939fa-e67a-4712-86f7-0f4e946d6b45 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:25cabe73-ad89-4c87-bb94-d372e0d4dafe phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f322d6d8-5238-4952-be0b-e866f7547333 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:35f8ed46-e3da-4270-b6a8-65548f532343 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:88a0957f-adfd-44db-bce4-94bbe762189c phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:58ab6401-d6f8-4d18-9c3e-1c7bf75f0859 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:97eff16d-c8ca-4bc2-b416-4108bdf491f6 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5d9541a1-8fe4-451b-a2b5-0fff23c4180b phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:dc927adb-3b19-4e6d-a48c-e4c6d76c8335 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f3d62288-6eee-4c7a-9e27-0d65f069b534 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ea6e8325-4111-4e7f-aaae-aa30b9e0bc76 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8530df6d-cd54-4677-a016-eb0a206f634f phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0e7b01b5-36ca-440b-80bc-a1cf62814669 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:56b1cb87-3f8a-4986-bef9-14ab0d1f8acb phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c7627af6-8d02-4f71-8e94-e7d85e9fd151 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a3f47e8d-0129-483f-9335-0f08b3a68aeb phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:46fb7da7-b401-4884-82f0-eae9706be62a phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6ee68d98-8803-460c-b81a-e5698069db3f phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:024bf386-8374-4beb-9c28-1eb746421e32 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7e1377a2-1324-4cde-9daa-c02845ec46e0 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:88cdb0a6-bb94-4b2c-a7fb-9b5de1cacf4a phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6d878087-06e6-4c39-a6dc-51a481e3190e phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f341da6a-c947-4368-ad32-21f3e9a41d0f phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:398412d3-1426-458d-8f06-3a4afb2e3f9f phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6afc9a5f-6b02-4cb3-bc85-a2a9c4e36e25 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7ea31333-4ea1-4807-8db3-f27c11229035 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1e2a9ade-65b8-4a33-8b7b-4612ba4421bb phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:00b055d1-49e8-436f-8174-2c812e6d38e0 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:48293e77-e38b-425a-9125-a6a66c06844e phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6b9a15ba-5ae4-4a2d-b97a-220711f4215e phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e05b102e-f54e-4311-ac50-c96ae75336e0 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:830eb4e2-f22d-4d9c-b35b-a7a04e73df60 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a846a7e4-068b-4ded-9ad5-0d8456794e53 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0ae3a79e-aad3-48db-97b8-4416783f3174 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4745818d-5d67-4962-a874-7c16a5daaf18 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9ecc7d80-4d38-4e7e-97cb-7ab65880c3e4 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9cbdc948-d6bb-4d17-abba-5465f0fa74ef phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:574fa27d-abb8-40b0-8f74-881ebac06987 phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:abd3622d-1f11-4804-aea1-93c3c27e84ab phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:ed67f3da-3b17-44f1-800b-43e9dd9445d9 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:48896652-7bc0-44aa-8c1a-b4e53d17d871 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:ca2423b7-68a2-4b05-bb27-6d07c8a87f01 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:3eec140e-4666-4f85-b4ac-f7c28d5c38d4 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:6e6c7ac4-b562-4558-aad5-670689d4361b phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:929b4bbd-94d8-4872-bd1e-c7bdb22675c3 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:9ced9bac-4b62-4614-9d56-2ab439ef7f3f phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:1fbdcf4a-d94e-4908-8e4c-67b6f64430b3 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f6eff5ba-52f2-4533-b4df-3642473b1c7d phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:b659724a-364d-4c8a-8cde-a0450b031235 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2266a72e-4fe5-43fa-b9f9-b194f4d66b04 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f6aa1822-18ed-498e-8bd7-5612e6a4ce6c phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dd361cbb-e0d5-4bea-8d96-3559cf55441e phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c7ce510b-9120-4dcb-92b3-adcc3c33dab2 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d52dcb3a-fb8e-456e-be5e-74e519626bd3 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d926841f-b000-4bb7-9d7b-fb4d491af688 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d06a96e1-3287-48ba-ba03-471a10b7b741 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5afa82da-d848-4695-b7ba-96032e8dd63f phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:38b444c9-4020-4cc4-8ed2-ddff076f300c phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:9338b8a1-2a38-49f4-9516-a8b49296c29c phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f15968a8-2818-47d6-9b20-948614b3efa3 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2a66e69a-fc9d-4dcc-ba02-bc4f4570e491 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:93ba2442-c9fc-4a5b-be88-029aeee510a7 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c663043a-89e9-48f6-876b-b908bcde0bf2 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7af5c121-c9dc-49e5-ae6e-d90aaefa3a1c phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:67006314-e989-45e8-9387-82417aeb3add phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:a64fd90d-9eb5-4d80-81b7-93c49c726704 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5baab6bd-8115-4834-9501-611506a2c622 phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:43671c57-d8b9-451e-b800-746ed1a8a73e phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:61d79f5b-cb6d-41d6-8b9e-ff9b362fcf0e phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:924951ef-acc0-4895-93f1-8e2844e93de4 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6f138da4-2a7d-4bbe-ba5d-9b7d1a2c6782 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2bc9f8f7-584b-4bb7-ac48-be09b625a8db phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3a2282a8-7083-45a8-aa73-a0bc6fdba068 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:21c63595-c4e9-4165-b304-fc557c8128f0 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7aabcf96-779e-47be-9e3b-01ccb7b6d819 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c239dde1-5be7-403a-95dc-919eb9a565b0 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7aa1ccbd-fb8c-4180-995b-9adb1d2b3a3d phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fc08bfed-f14c-48e8-8ea9-c6198a7504ee phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:288a7e7d-936a-47a0-be23-b67353995bd7 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8bd10511-4169-44a6-89c4-48c586d65ac3 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:986b0e2d-3837-4053-a52f-10d18592e38b phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:51aa986e-aa27-4a88-8dd6-3cb91d1e5e9f phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:21eac9a4-bb30-444e-845c-e9689b9cd21a phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:65becf1b-6849-4994-874d-feac168053ef phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d382ad81-d9ad-4b5e-9d35-3a2c230487fa phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:582fc67e-7026-4255-b1c7-c31eef7a5524 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d1801051-052b-4d46-9a96-4517f2b9ef3c phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d864ea8e-6278-4a92-a289-1be6b344250b phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:33d2a5c6-b4c6-4f88-95c3-8ee424c4ef14 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c9d98d47-210d-4475-b3df-93c3b4578234 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:77697427-c597-4b28-98a6-ecf7a43282e3 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a55ec945-3b70-4cf8-908b-df96716f9439 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:937cf6ad-1ad0-490b-91e3-4f800c63ed39 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4d37a3cb-5c1b-4a47-abdf-447ce0940d79 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c4cede2a-046b-4516-85c7-f206ea12898d phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:650aa3c8-804b-4bd3-882e-a0bcdeeeb63f phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6a022559-f462-418a-b081-b3483b44dc6f phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:87d4325d-2ca5-446c-b70c-f7851a7f6a2f phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2a4720e1-be9a-41fe-a516-e7508f9ff818 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e53a0863-47ba-4cd6-a82b-04d966d42d5f phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fc203fcd-323e-4b2d-b86e-52d9ff5ed641 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:63cfa889-3243-4b38-914b-36c562c24ed6 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a1659cd1-d5ab-4689-bd81-1331ec003e2e phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:daa32896-428d-4da0-9ff6-36bb90198230 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:24e6891d-5a7a-4ce8-9e28-0ea063c0b907 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:860979e2-d14c-4f85-b5c6-285413ea5f05 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8620d8c2-80a4-4fe3-a4ea-e510917ba323 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d10a797c-0f9f-4e3f-86d1-cf1f4414517b phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:47a30288-1b33-40c1-a2fe-73abe8adc823 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:59dd1458-0aaa-4b8c-9161-b12eb8db7e4c phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:79f089b1-9c61-421b-b295-bd8ba770c437 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:af62ae71-8236-4cd3-bc18-e091890ed27b phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a86950f7-912c-4282-91b2-c661586d3e37 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6cd7af3c-92c0-4be4-8ff0-e0bbf173fd8d phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:86697884-c6be-4117-8d8e-87b4b6346c89 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:37d1e9ca-0659-4986-b92f-ad6bd73f6238 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:f4ea9c6e-90ea-4f29-8b80-2bea68842965 phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:0e5ef052-ce7f-430c-93b2-617103ba9ed3 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:9263455b-5829-4581-9584-7fb244b54c88 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:b8b9c8c0-60f7-499d-a422-c57116e7644d phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:74af0fbc-a78b-4432-b344-3c9a8627fa58 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:4d37c83f-1b38-4dc6-9da0-34a1fa164ede phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:9aa3b527-eb2d-4828-8263-ec8edc3d5bd0 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:a6426268-a8c1-4069-9650-047cdcdc75ab phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:ef7fd8b7-253f-4a06-a8d2-4f3e54852dc8 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:a70a0c92-942a-422d-af1c-8609433636d9 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:53c4fdd2-9169-4b75-a713-b9d665462c95 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:9f57de93-9893-4118-b40d-677a8563b73b phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:1eac22fd-aafb-47cb-961b-2541fac6e794 phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:7094f05f-644b-436e-abd5-8c57e1e3ce6c phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:d78d96b5-c3a0-4027-b5f2-3823283d699e phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:911f3e14-5a5c-4b7e-86ef-feda800c491b phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25447906 uuid:c25c9bc2-1d09-4d8a-860e-bb36d62449df phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25447906 uuid:1007acca-908e-41e4-8937-f02359ed3906 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:a0e1f686-ec3b-4274-8dc3-a886637adcfb phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:823d8244-5bfa-43c7-91ef-456b01e64ab2 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:65aa0adc-a164-46ab-ba35-2e7f42fd74a2 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:28a7fb1d-529d-46dc-b4f2-12304432965e phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:e9e97550-2029-43a8-bacb-30cf643b5d8d phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:226395af-aba3-46bf-9740-525a6a13e02c phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:6cad5a30-6002-4fc9-b67a-20bbf4e7e297 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:bd7d4f35-0d3c-4f7d-a89c-19a31dbad9e7 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:caacf9c2-51e9-480d-8acd-7aa4da5fcf06 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:ba131b82-0383-4027-a2a3-85aca74ad7d9 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:276b4988-370e-40b1-85b2-5a9c6f4b04f6 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:a001f5fb-b6c4-4672-a347-29ad3dce6388 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25447906 uuid:64a4437d-26b4-4afa-8adc-6629dc263028 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25447906 uuid:82599bb0-79ed-4d79-bc78-3da994e37a6d phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25447906 uuid:23f44653-2cd5-4e9f-b2fd-fc140f5c7216 phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25447906 uuid:5e6187e5-75d2-4319-992d-4c8ed3513b6c phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:c6927402-7416-4eb9-beb9-3ef00279da70 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:882fd098-c25d-4284-8939-4c8c68597a82 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:39257ad8-15ba-47d8-b072-167b3ee30024 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:d6958a11-56c5-4fb2-83b8-edf6c9c8cda9 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:c4fd2ddc-2410-444a-8f54-acea2b6d2e77 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:a097f487-7c49-4dd6-bbc1-89a6ce3c8cbf phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:c90e887a-6681-4af5-a470-4bed2e97d02a phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:25cb1caf-d6fa-4935-988e-26f1a71e62c7 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:da0e5d14-8830-4bea-86e5-454179e68ea1 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:681c8a75-b156-472a-9e99-506e0cc17e93 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:bc298b5c-6cc9-46cd-9bed-47ef77cdd02f phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:02873831-5861-461d-a605-adbffe202454 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:3ef1eb5c-afdb-4cf8-ad3f-ebeba13dfa3e phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:445c18f8-6854-4c51-b3d7-c92dfb018c03 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:8d432430-6edc-4351-8bd2-cb6ba8ca2e12 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:931386da-b083-4e0a-9a02-2313029805e7 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2c25d422-497f-4c4a-9154-2c30770ad6e7 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f2327590-ef36-4a9a-a457-33b542043cea phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b8304ff5-d073-4655-bd9c-99da13d2899a phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:90a1ea5c-e2e8-4261-a654-bf76be916710 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b7fe9a26-5bc9-4675-967f-9c3d93a65c32 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:591a413b-2214-4e47-843a-0301769014c6 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:0abcb8eb-25c8-4ac3-9e71-f99132b21eb1 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:33ce3c7f-b4da-46a1-a128-f4ddca2ddb5b phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b9926c39-026e-4495-90fe-175038f9aa7b phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:72c45aec-7b3f-402b-90ca-e236efae7007 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f80782b6-db37-4683-a8b0-ac0ee0623d9d phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:65d9199d-9aca-4610-956e-f95d5cd71a48 phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:3e522481-807b-477a-9b9c-973eab73964b phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:c13337c7-47d2-4ece-8934-fa7f967b2a7a phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:b0edc705-310d-4708-a53e-0091e78a2733 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:a620e9b5-e03f-4c1f-9341-e04739aa3730 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0008743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:69bed46d-b0b1-4b12-8cf2-e81652c2c15f phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:1e06c669-ae40-4f34-969b-1c8e3c33a75f phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:2eaf285a-6ff7-42d0-8ea7-95a528fa7b56 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:831ea1c5-2d72-44ff-b30c-413c70abf1d3 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:a349043d-947f-4cdb-bf58-797580d649c2 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:11f27377-db06-4ad7-b183-a3219ac7409b phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:e3c836f1-db78-462d-8f93-a26defd8d6d8 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:f186a11d-bf0f-400f-b636-5b1ec08b30b7 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:e10d8b6b-d300-479b-9319-5b3b139d72f5 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:fd48de37-630e-4db9-8c9a-59efc35d520c phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:56e8871b-5096-4550-b7b7-f0de27cdb828 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:5123cf58-f5c9-4fa7-a973-9011348a289a phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:9cd2d6ce-2445-43bb-9fdb-f6bdd3b9dbc8 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:6cd93995-9a19-466d-87e1-3646860c1e3d phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23304577 uuid:e68e5eed-cc80-4ab4-9910-c55361d11033 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:74a7a302-aa9c-4241-9a98-140d6f85189d phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:087b32b6-dd10-4f43-8aed-ff753f6b7b2b phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:957b59ba-4b1d-4c44-938d-29d328dbc15a phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:508e540e-875b-484f-856c-b7c5a24eb2f8 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:68448806-8d88-4cce-a4af-14981645bb0f phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:ab4bc9c8-9c30-4d69-a4e7-6a6400953f5e phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:92337a64-237b-4c56-b4d8-1b26ce9fab5a phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:49fe9249-5cab-4132-a04a-4a7e8a6ac8bb phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:9bc33de0-754f-4945-b015-1bc4d035d624 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:4d172eab-4548-4aa8-9b77-b5a234a555d5 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:1c59e2b3-f51a-4d7f-bbd7-aa69655cf259 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:34eca1cc-f544-4bb0-971e-ead4f279056d phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:164b0ac9-c7a3-41d0-ad2c-a02cd76fbbf3 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23304577 uuid:ace40674-5498-4f9a-92d5-99d5c336ab8b phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23304577 uuid:b1752597-dba4-4ce1-96f0-6f3e42825369 phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23304577 uuid:61d836b4-83e0-41cf-bf56-b95823d6a8d1 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0c59994a-d240-4a0d-9b6f-8c7ce009dd26 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b2d42d67-0e81-49b3-8ea3-74938d8e0e75 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1677f126-3c62-458e-80c3-0cda6663bb11 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4c7c4f97-b8a0-4807-821a-cc297fce1035 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5dd1d3c7-b653-4cb3-b3d2-cf5b4c748608 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ea3b7c24-3a7b-43d7-a639-4e5b9d149921 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d0f32fce-1bfc-4c61-8fa4-c7dbfb156c76 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5b16f115-20a7-4158-9f95-f53e34b21600 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ec8e2e95-fdc4-4959-8dab-84647c635bbb phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a47c8150-d380-4652-a22d-2b320ee669ae phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fdddc34e-50d5-43a4-bcb8-c9ed9dd4f1bc phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ffdb1a77-c69c-45ce-aea7-8fb65a1a6aa7 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f3c079a0-f7e4-4ce9-8b97-630dee7e2035 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:212be041-e6fc-4914-9675-0c5678b2b37e phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5abdb1d3-14a8-4ec6-bca0-2777a2e5adfe phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:774b7d29-2190-4b55-8e93-05b38dcd9a96 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:de40385d-b582-4da8-9df8-1949be8315ca phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d0a6919a-308b-4af9-a7eb-96aebc35ad79 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2add27b2-c944-4845-b1c7-c35595a40365 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:df31c194-25da-4f68-a0ad-db48c484422d phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:87161ab0-ac27-45b0-a429-aba30ee48a61 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3c997f9d-b7ec-4e70-a611-eea61fa82dd2 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:705f8232-76cb-4ec8-8be2-445c6589ed69 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bd9a408c-438a-41a6-80de-e45253bba61f phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b9dba83f-01c3-49ef-804e-a12d2deda4bf phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8ff78264-80ff-4fc3-bf42-1010c61f3ca3 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7a984a09-4b8c-42f2-a7ea-ab1587d7e4a3 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:65b5b320-5b86-43ba-9e31-7f3c3d1533c1 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:4f89f724-ecb9-458f-9eaf-cf4fae6de3bb phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:678e5e62-d533-4b5c-b37e-a9a748e7f258 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8fae52ef-1a77-4664-ba83-7b5d11ec44d6 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cf188cb7-928e-4316-920d-b9511daf80fd phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:678a7034-72cc-4945-9716-1aa96e631c0c phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:87900d94-781b-4177-b02b-98a755d51d37 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7e0eb866-3da2-4852-86fa-ab515323d51c phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:804dcf91-18f0-467d-81dc-7a0ed65a724d phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:dbe384fe-af37-4936-b29a-11f2e7fd11b3 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:84118eb9-b49b-4117-8b6f-7d8c3508a3c3 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:05e818db-69aa-4048-9c56-b8cfc0f23633 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:51b9548f-e500-421b-bf68-8e12aa32fa8a phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:dc430f83-f415-4b03-aa0c-8ff6c56cb19a phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:96debc61-f548-47bf-84e2-0c9e4726269f phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:19e32fa1-5eca-4be2-ab9f-cfac49d1433a phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8e75482d-3a1e-494d-b718-5502bd63e084 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:19f9d879-b64b-437b-b4f5-f6d4c6b26b4a phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b7bf5a6a-d31f-4b09-b998-84a55ba3c896 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bc9278c4-9c31-40e9-8ebd-b3aa42ba1217 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:c695d370-7420-4304-8c13-f0382f5e42e6 phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:4bc900dc-333a-4bb6-8c0a-4da43948a2fd phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:06538123-f63c-4545-8e5b-bbf928eb2cc2 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:326cf75b-5a39-41cd-b85e-88bb159269f6 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:7c85c80c-b0a2-43cb-b899-e691df0bfc6d phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:b787a302-e014-4b0d-aff4-45a21a686c53 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:8b6daf8e-04c9-4e80-bdfe-3c404227a418 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:18d75bb1-1b30-40b9-98cf-c83dcc2e5a60 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:ff0073c9-b62c-4386-8b80-c129b063c9f0 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:84e48aad-7622-48ea-b92f-2c71d75b5e49 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:120ec66d-7649-4e72-893e-493aedba7d4c phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5f69e8ca-931a-44c0-b63e-4e4823dc542b phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b3398a11-732d-4a2a-8746-918a7816c6f5 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c97b6f58-ec3e-4699-ac47-42befa5aa002 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2e5156ae-1834-46a7-99ff-932271606edc phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:404ca9cf-9c71-49df-b52f-31de79c304fc phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:56225c92-9839-4574-b0d9-3e22cb08232e phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1a131df9-0cf4-4f12-acc9-439a5be3b284 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:bbe035c0-bdb5-48ed-85ba-50eb926a0164 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:063efc65-f3d6-473b-a504-e2803fed3095 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f49ec20b-2799-4262-ab09-d4eca4019d72 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:345520ad-b785-4bf5-9886-a4ce30965f2e phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5c419a04-aedf-4728-9457-c6e22b55c692 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:daa63b46-7760-450f-84de-ea6c08d6f8ee phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1439a200-df66-4262-9da0-12de9d9d6506 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:a47d1ad6-4da8-4fb0-9379-a92abbf45807 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:f4b9987f-bb83-4904-b22a-358590ab54b1 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:7e2e4556-cd16-4b55-b4fc-d94095af1291 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6f27e250-79cb-40fa-a406-c6380f22d4f5 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:9e9e2178-007c-48e9-a42d-b6daa5f64008 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6ccb9e46-c661-44e1-ae82-3b1e884e3521 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:cda85a53-3677-4708-a0a7-457c3bbbd039 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6909647c-78b3-42c3-b983-2005b3cbbb11 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:18395883-909b-413e-ae38-2fd14e197086 phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:e200bfc9-1cde-48d8-a199-27b0e81077e7 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:22d1c9af-cd43-46ea-9d81-4c471c07393f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6950ae19-fce4-4fef-b0b3-ec6f5c24c879 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:d4491dfa-14b0-46cf-b23a-d219d7f2189b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:aee12e35-68c7-44b1-8ef8-65fd664414b0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:9ec3e260-93aa-4b29-be5b-eca95ea986f2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2c227eab-f5fc-4719-8e44-4a529a5e1bb0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4076d44f-52ed-420b-b25d-194bc0042447 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c1a74a30-2fdd-4b80-b7c2-10b91c6ff468 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:6516383d-acb2-479f-b28e-5bc2bd5ea2da phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:fcee9342-d8b7-46dc-913f-4ba50dde1e4b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:b0763eab-a6dd-4cc7-b7a0-5ee4960d039a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:40849f4a-8269-4113-8849-7de4839a0327 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:a485f51f-ef81-417c-8fd5-8b418db734ac phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:1f64c777-bb7e-43f2-b1fb-d764c28215d0 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ef70f1f7-c22c-4cec-8f6d-e7b16b0c539b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:1547b750-53f4-4f3d-aa15-8dca78ee909b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:492cd12d-0bd8-4ed2-9bdc-873d796a0f30 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c5b5b835-f4ad-4c6f-bd83-205327f01a26 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4beef75f-3937-41b4-aa3c-2c9a268d1334 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4a9bdbbb-d600-4b9f-b858-715cc2ebb20e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:bb7c6344-17b4-40fa-a280-62e1687e6354 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:0b2e15de-4967-40ef-a3d5-fef7e6e0f8db phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:ed2dea4d-761a-41c8-bd24-c6977939d579 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:fffb64ed-fd36-40a3-af19-23129ea64d10 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:c4a5421c-2bd4-4a10-ae73-f66662c60c6f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4aff5761-4342-42e8-aded-b3b16860650b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:2b9389e7-bfa8-430e-98ba-1a85691c4e63 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:12ab8e11-dfa7-46e7-b375-82ed8e697c76 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:37353f15-bb92-4d8c-b6f5-141aa3ceac16 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:4ead8b6f-ebce-4126-98a6-3293a8b4603f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:364016bd-25d0-4f7c-8653-f632597f2f27 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:fe9a4b53-d062-41e2-8911-f5cd9c28ba94 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:3f88e6a8-e052-447d-a9ec-2befbb3e5a6b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:42d89cc6-2417-492c-b369-faaa1307ac7e phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22241092 uuid:613cb836-df12-444e-ad9c-89877fe6743b phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:ebb82204-2b54-4680-af74-001dde127487 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0f2e7bbd-71db-40b0-a04a-a008ece533fb phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:274b7632-1361-46ad-a902-fcae6b81efa6 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:53c7ece4-8998-4bb3-9bdc-f556bd46e0e6 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0c1b8fa4-20eb-460a-b2d8-cd24aef28be2 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:f5f08bc2-d6e3-45aa-bac8-7fc1461cadd3 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:0fe15726-492f-4fff-a0c4-7b28e72e30d9 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:e2bdd6e6-2486-4b5f-a9bb-587ff06c34c8 phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:c50d1ff7-d706-4848-850a-fb8296254bad phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22241092 uuid:851f5b2a-981c-4e9d-9344-efa11465849a phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:d4652998-8c4a-43e2-8c53-136f69a47c0f phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22241092 uuid:67d5be11-0fb7-477d-bd72-7d92347b0b0f phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:524dc48b-5f67-4dd8-a180-8d1fcbeff2db phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:af179501-8853-46d8-8582-ba208a777890 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:20f0507d-f139-429a-805b-57c207a5a20e phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:77d57b72-1218-4ab4-8b9f-3a7acf6a3bbc phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:5d37ae32-16e2-4a98-b1c8-2be9bc8f7984 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:4f7dfc15-15b5-433f-b50b-d61987592621 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:e475dd6c-4e7a-442b-801b-d1b41970b103 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:02ffc4cc-1684-4db4-b78e-47d3fbf5db5a phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:6c705bcc-f1a8-462f-bc29-b14d60458a3f phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:364e3448-8fae-4eaf-b01f-78f2acfc5fd9 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:7b03fe21-6078-44ed-a8e9-af47a85c7166 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:15946aa7-c83d-4750-915f-fb87dc7a8411 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:52090271-031d-43c8-99f9-cabbac69ce95 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:2003c52e-e037-42bb-b8aa-8581f14521ec phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:4bc3c87b-8c8a-464c-9624-4be9a703364f phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:2b8da247-5bda-44f3-b3f5-6d90630304a1 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:2453fcdd-8a0e-453c-929f-14778ed7b8f4 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32074972 uuid:e0229dfc-4430-4495-8881-bad1a1c180f6 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:c2caee74-fd0c-4b8b-8a2b-ba1f9e7ff0a7 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:943fa231-670a-4314-972e-949ee35481aa phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:f96fdde1-825b-48a6-aba4-b9c0d6b5a873 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:b7cb2a16-d14c-4a60-9142-61097bb35fc9 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:154ea8da-89d3-4c30-bd44-20767cbad220 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:6dd78f78-bbbc-410d-9378-054bb9d8579f phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:974507b5-e144-4571-9239-53d8dbdb2b0e phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:ed68da0f-9a6a-49c7-9c6c-34b8d27e9553 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:9d5e7439-3396-420c-ae23-eb3be80f4e18 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:923401c3-527c-4f6b-90cf-932198fd64b7 phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32074972 uuid:a57e9407-d7ef-438d-a510-cbb080ae502d phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32074972 uuid:f6852efe-3a61-44e8-9dee-644ac3aad8fa phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32074972 uuid:556b498a-4490-4f46-96f5-6ea5eeddf7ec phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f8401446-0e64-456c-a21a-3f9997662d3e phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:62bf3a60-090d-4478-b036-1542b47c9835 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c6dc7b04-2548-429f-8ecd-6dd9583c14b6 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5e11acfb-6d40-42a3-9533-c65e7ab6cdaa phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:032b6c53-babe-4f9b-aa14-1d49f82c7de9 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1849853e-0d76-4977-ba8d-2889c6c0e7af phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:229bd55f-9169-4191-a9c9-01490fba9774 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2734fd0b-9d5d-483c-aa15-fe264c670751 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:45c3339d-fee1-455e-9c5d-fd54b9519ae9 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0043530c-0264-4a51-b518-39c891fdb5e2 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:695938c0-6413-48b5-a69c-a52351167732 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4bd2811d-8f7c-4c1c-b6a1-edcb14aaa893 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cd8bce18-ccac-4755-b1b1-e77ecb250863 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:62377b68-11dc-477f-a2ff-5aca12a4c0df phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d4473e72-121e-43ba-b8fc-2ef8346a3e08 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6e12bee1-83f0-4a1f-9148-130c522593c4 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:bb678b3c-ef13-491b-858b-df620b58fd1a phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:03988a1d-4121-43e4-9986-22066e93a384 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8478f54e-8c30-49b8-b4ce-2cc88a5a1b95 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:feba6062-ab93-47f8-be70-ed6822e3d587 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:741ac25e-5db2-4806-a404-6ba52229196c phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:26d57377-8ca8-4f90-b699-c13d125e0b05 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9ba17eae-d0cc-4620-8abf-1a820c402c03 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ebd3cff5-78fb-4176-a30c-aee559c4786e phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:34d36738-d445-4ee1-ad1a-879dec38a658 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c90207f2-8dcf-49c6-b9cd-33eea41d6635 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cf93b79c-ba09-4b55-9db3-7b60829f54c2 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:66c35e73-880b-4fd5-aaa2-4700ea8b7174 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:194d489f-6b5a-4f89-8047-9be30147e405 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bdb89d5b-01d1-429c-91d6-a9b76414bb4d phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fab250fd-791e-48e3-b30b-09775ddc1007 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6d97b85a-4225-449a-8d1e-4ec5770e4d84 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:cd96dd1b-7de4-4d0d-abce-19d276da05ef phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2acaf40c-9655-4c9c-b106-174f9c5eeeac phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f58657db-efae-46d2-8b6c-89c8e74cbdea phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:29ca5fc8-588c-46c8-a444-3b10c267aece phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:113ded86-1780-4ba9-836f-9e0bfb8dbf64 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5938e132-c09c-44cf-8715-db07fed25584 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d474bd88-f8f6-4106-acb6-fc6319a18c1e phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ecb4eaef-7c72-4c60-aa8d-cd613d867aab phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3b652162-de9f-455d-b137-6bb50f70a716 phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:99bef026-fee1-4dc2-9eb3-bb52a87b16ce phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:4d3ccd00-7935-4327-9553-18eb71002e5e phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:30cb5eb8-9df0-4e01-8af0-32d88e0d5c9f phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5dcc4300-d7f6-4e04-ac24-4791bc01a37f phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:37bbf96a-219a-485b-9eb1-2c36f5cbaa9c phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:181c8e7d-1210-4ba9-87da-f2ab350eaeb3 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:19e46d08-54fd-452c-92f1-1fd62771df24 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:730ce7f5-a772-4200-8162-5fb86a38aaf5 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:46648a45-195c-4bb3-b37a-b091b5329d4a phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8a973d56-0229-4ec8-875d-7ed5ff2c9565 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:43868af9-f8e7-4478-b558-5806528ee57d phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2a167a85-4fad-4386-bade-aac4ea9b9529 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:444e42ec-1161-4d80-851d-aca20ffff573 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:99de3174-c1ea-4363-80ab-274b90ea9253 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:52a4a6ad-e102-412d-a63e-616c830ca9cc phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e8a06131-19e7-4610-b61d-a556383147f6 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:daaba23e-3fe1-4d53-a93c-25c9b219fc28 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7a5368ec-c985-44bc-934b-867e2ff349ea phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:92565047-a736-42c6-b0a8-0d1f4d3718c9 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:182dbbcc-0620-4ec6-8a89-0785fa1b3e29 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:578de103-3e41-43a5-9cfc-8757568edd79 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:81ff6d63-e264-4456-bf84-598cd7c1a3dd phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b838608c-7d9b-4073-ab6a-e8483d249511 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5b2bb5b3-4ed0-42b7-aeda-4f02f33fa041 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:274fdddb-b8f3-40b7-87ea-6c5ad10e65e6 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4b8a5b74-6fca-4d0d-ba0c-283a13ba6d74 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c0ade4b6-fa69-4dd0-98dc-1e684ad65d89 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1e450058-6796-4822-85a7-a9d1d8e72385 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a29895d3-91d1-4711-a962-a90a4417c409 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bcb6a627-55a4-4dce-9b7e-72aeae41603f phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3f2d2774-f72f-4aad-938f-97653b4e95c7 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:eb35c57d-f030-4850-a073-3f38067963f2 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:be451d3a-992c-421f-9bc4-3d2d534f117b phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d9f06306-1f4b-45d8-abb1-84cac41f2b76 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:699200ac-dd73-4705-a078-1983a496db06 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c9bcaf37-56bb-40fb-84ea-c8f501f87d60 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:14ed2eeb-c09a-4602-87d1-64e0fa9ba60c phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:21406876-aeb8-4c1f-bc1d-85271c047fd9 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:67df3216-2e22-4beb-a59c-006c69f09431 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0068df1d-01c0-43ed-904d-fd2a1b1b3634 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5c70029d-23df-4ede-a14c-bcdc4dda7c0c phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bc10c5bb-cafc-4a1c-991a-0f3d967a80aa phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7caf2141-77b7-449d-be82-304bf444de0b phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6223ac54-3d48-4299-b430-761b335d1ea2 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b57697c5-eee4-4999-8f94-2c043d646241 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bbceeba4-f1a4-44b5-b044-f5eb0793026a phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:469564bd-f958-4466-bf17-2307fa69ded4 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:498da997-5552-4931-9242-939aebfb7c6c phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:c765e1b1-03dc-4c9a-899e-bcc03f726d34 phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:c4c8a19d-347a-42d2-9da3-d420e8819072 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:6bdaa2f6-12b5-457c-b6a2-3d59d14b53fe phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:5d43e84b-cf02-4ea7-b531-acfdccde95dd phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:2bad62e8-7898-4669-a2bb-8aab15fc501d phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:8a10b10e-f6d9-4621-b873-9f14f0fe5487 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:c1aa6f3c-fc99-47f5-9cd0-a98b4b5de58a phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:2cf8a135-d89b-4465-811f-0a65a36334e0 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:2bc6a1a5-4fac-4039-9eb3-e9676546e116 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:b5dfffbd-871f-40ac-ac00-f880140ba9ee phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:85576d61-c02f-4402-ac98-20e33b8f98c1 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:4d67ebc4-2dfe-4ba2-8375-c7c2412866fb phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:e73fcf5a-745c-4cb2-883d-f59469d9703b phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:c9acbed5-46ed-4c73-b657-17da5478d104 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30246735 uuid:ae0e5c7e-cba9-4dbe-b758-9c22043a8f60 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:6d47d32f-7b63-4bc9-82c5-d75af0c8b9a2 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:fdcc5424-8334-4901-bdee-cfd44d283c61 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:fda21d86-aeb0-48cf-804a-7362921727aa phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:9ae5bbb5-bc28-4c16-8f68-62de82eca169 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:c889b867-6d3b-45f5-b095-efdf084eb1e7 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:f54da160-6a59-4036-9cb0-c0186ab60379 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:098e2efa-83e1-4569-80e1-c0f1c0f0ec51 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:573933a8-80f4-45eb-99ac-18aee78482d1 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30246735 uuid:35fd38f4-038f-42a3-af24-929bf92ee4d0 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30246735 uuid:9ce41028-ff97-4e94-83f8-23fb47b5bd99 phenopacket.store:NIPBL.PMID_30246735_newborn biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30246735 uuid:bbe45c68-bbc2-4c6a-bafb-38f87f3a06ba phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:8f71b090-4854-46a1-b44e-b7735d3451bb phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f15fd41e-e2a6-443d-a1d6-138da5168a31 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0356aae6-da68-41fe-a0d1-3b23668d9881 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:774e61c0-d4ad-4f53-9bb9-b1937730c02c phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:b4967d6a-be65-428c-a8a0-27fbc662d33f phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:6b59eaaf-d09b-409e-a6bd-55b136e46d54 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0d750fe6-0b33-42a3-a065-fb470c09bbc8 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:a58688d4-fa26-4412-a0f9-952dd64b3db5 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0780e764-122c-44b5-a29c-c376690a3774 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0510cf50-50f2-4f12-9cb5-604b2efc9cd1 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:847bf8a9-fe2b-44b6-a94a-776341876749 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c6535ff2-85d2-4433-aea6-ae6e08b2e444 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:cb5108d0-3aea-444f-81aa-ffe6bb4f7ae8 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:8e995cb0-4fa9-4d16-bace-4cfc84b957d5 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:848d66a0-d8cd-4c3d-8a02-320c81cd6393 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:2b66f8f7-f1af-435f-81bc-fac1ac9b7ac5 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:ab3b2ab9-10d7-4530-9c77-7ad3648f107c phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:4326817e-d2fd-4981-b350-ac3c60097a5d phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:d5bd0ab4-db8b-4162-b892-523459a7f036 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:6ffb7d17-02c1-489c-bfdc-7bb4de7016d5 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dda030cb-3eee-4ae4-9595-50846ec7ac06 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b28c6477-e4f5-4b03-ad97-ab2b28be5297 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:be140140-7f96-40a8-b4ef-f306d357d7eb phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b1e5fa11-3872-434c-b580-5d3ccdbfb352 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:75d50533-7fbb-46b9-b866-19b3e3fd9f36 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:e4aa50a4-b4de-4825-abba-7a9ae1c693c1 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:abeefa74-ded7-4122-8f9b-004beb7ba502 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:c7dc6138-174c-4f9d-9849-3fc15ab3ef10 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:133fcf9d-9ee8-4d61-94d3-c74b1b84fa77 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:76fdf1c0-5727-4b0f-bed3-d78fe31394cb phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:e1b35f5d-28a7-4023-8c43-f30aba4e3a23 phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:327bfe09-91cb-4904-a06b-6e88f840cab1 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d44a004c-a19d-43f5-80b3-a54e1830b2a1 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2369f111-9ba8-4ccf-aaf0-e0a6f205a4ef phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:b699f666-30ae-43c9-90da-3ac1f8a5d894 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:dcaa4414-43ee-4d44-ac0f-024654fe6e51 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:384f3d8d-0d44-4926-85b0-d29723ae1303 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:840491d5-0ebf-40fc-9649-9fb4f23d6a69 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:832b1667-f92f-4a6d-a78b-446e2a517833 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d1951351-4ade-42bb-ab4b-71633d7fecc3 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ef082304-5bfe-4068-93e5-82a57ee31f1f phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:96eb8b10-31ec-4357-8d54-f638775f434e phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:dc88aa8d-6f49-4426-9909-2e83851e1e25 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c8b12b1b-4346-49a4-a5ad-2eef43e5d711 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:af92831f-c9d9-41c3-b3ec-cca8508a8695 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e545ac41-cfd8-40e2-8f20-d15aed3d52aa phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4b9e2566-eaff-42a2-a08b-fd6251cf5375 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:24364d36-ada7-4de0-842e-49606ddd9a0c phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1f33d84a-9895-4c49-8cd8-921025125fa2 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7128e3b0-b025-4466-b2c6-b807b9c7e9af phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e70ea11c-3080-413b-aea6-6581ddcf2e2f phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3db812fa-2305-42ce-b535-e94ce67aaf89 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c735ef5a-4568-4ccd-abcd-aa5c1114f41c phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:71b1e919-5036-4faf-9f18-a423f68b49ed phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d2798568-a5fe-4771-9913-1dddb04e0360 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:51e183f2-0db8-4d8c-bc06-6397c5a7b085 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:32980a1a-84e8-4305-be1a-73fd791e07cf phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f83abbcf-6e1c-4313-a012-6b85aa315131 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9698bef1-54bb-4762-921a-ff152972022b phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f7543fdb-6e70-44db-ba6e-490a1f97dbf9 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:afbd8823-81d0-4c24-9c5c-75545de04dec phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:67f3b520-8b04-4ceb-9ec0-c4c778f8ffa4 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5e1fc52a-e18d-4d4c-8c58-c98fcf48343c phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c96bb8ab-77a1-4150-917c-8bc0d62d24d7 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2a8421a9-bf4a-4f3f-af69-d49bcd2e510f phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a2d19710-c79c-4902-bccc-6b6c6a160ba0 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:db60c2e9-5bbd-4c61-8931-8c94f8e571ea phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d87ccd61-b331-4004-aa0f-b032770844e2 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b4c6a99d-7c79-45c6-823d-fc221063b19a phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:17659c44-1b1a-4158-863e-06a9b861f270 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:13917f24-199d-449f-9be3-fa056a2544f6 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e4c8ab4c-5cc9-4e6c-bc84-d3abcf88df27 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6b1cc5fe-a62c-4d2f-807e-5b1d9c2dfa9b phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:22ce5e89-e9dd-4d81-becd-8f7c72b93d8d phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9360d9f9-28c1-4551-95c1-038d3e6c4e70 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5e308b8c-8d1c-4421-b547-150350228dbd phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2dfbf9e3-61d6-4680-909a-07da8bfeb99e phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1a018db8-c759-410d-97d6-3b5bc3960944 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:04b4a8c5-83a5-4371-97a4-db0310265b67 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:55367b81-ed35-4b89-832b-7ba39b535cb5 phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:0d09326b-b06f-4c12-98c1-a31b55515c69 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:24dc2ad6-3e0a-4726-b4e7-dad5c677f634 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cd90c00d-fbc0-4e0a-bc13-30e554144675 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4a902d96-7504-4694-a372-49b2655bc72a phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:71d01a08-d16d-48be-9437-7eabae1c84e2 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e1745c7a-cd99-42e7-bece-253225bf1363 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:e50a12c8-86e9-48ef-933a-27c2fd0837ef phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:818f0845-40e6-4dc2-baef-f100a94b75dd phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fd0fbbe1-b0b4-4d56-8aeb-c61df93e3afb phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:acdf2faa-1176-405a-a2ea-42441abeac85 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c6fe4f5b-453f-44c4-8027-4e0fd47251cb phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:5355109f-2a1b-41b0-9a1f-ec14541ce9ff phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4e74ea6b-7b7a-4dbf-919a-d252aecd7c42 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fbe1c22c-d56a-4d40-bf6e-1935a73bb880 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:21616091-0060-4e2f-bfe1-02c73165ab3c phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3fca8f9b-47a1-4e05-8c6a-9864a62330d4 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1cd8596c-d15d-4afd-a49b-fa862c3d02b0 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:8d0b4612-81b4-45ed-a7f6-ede9079462b0 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cad54c56-4ef5-4689-bada-9b4548345174 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d07079ad-1b6d-490d-bb6e-b112e69b3f23 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:79ce370b-aa5f-4f45-a45f-fc28c5ab20dc phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a81eb4df-1dd6-4e70-8055-bb98d9520035 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:94ac44ed-c65d-4079-a33c-51f07fa3c097 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:77a71549-8a6e-456a-8a62-530cc077041c phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2684ea19-8b2c-4ad9-8162-9d5e6425435c phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0f00b045-00b9-4e75-ad55-079234ded390 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ea1cc566-775b-4656-8d2c-8392e9123216 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9a0e5496-9ffe-4688-af69-13c95e823aa8 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2ca17fb2-635b-4945-a328-e2b2a5b2b2d9 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:966746ae-e68a-495a-8006-bec9114947c7 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:825d0aed-0512-45a9-a3bf-22e78c86ca1f phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:85314feb-33f6-401f-a3c4-085d814ec9ae phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:bbd12b9c-62a0-40db-9dcc-ed1c873b0dfe phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d742a4a6-983a-43fa-b510-df2f6c3421e6 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a72cc7ab-cde5-4ffa-a78e-2dcf8ae394a0 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:74249f29-f150-415b-a356-8ef738f76820 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:697e5202-3f76-45ad-a1b3-ddc041f6cd95 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0d5a2b1a-c4e5-4412-8692-3085d33f6e07 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:21be0b92-ce53-4cf9-b8b9-af627b374a5f phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b0723b88-24db-4484-b6dd-547c30433d06 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:db95277c-857f-4fd6-b6ec-a721efbeaa41 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:837389bd-f63d-47de-9f27-a90a346bdab6 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:7f9ae26b-612a-4100-bbae-13e623ef7441 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:612946de-ca9d-4c25-a225-857cc8707783 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:473daa42-9341-42c8-9b73-cd0d01f82e4f phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fe346d23-3dd1-46d6-934f-ea39d8ef790d phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:fada49d7-36ea-431c-be0a-9140bafcd9f6 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:ef251a0b-0a44-4e6f-ae9f-3e506e9913a7 phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:bc4ca94a-ae73-4dc0-a303-b26c4d0e538e phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:a3b32de8-b08a-4677-9472-b0a29f9a8f36 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:ec801eb4-a2d6-4d53-98a3-8526c968425b phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:2b4d93a9-985e-4f6d-9e3d-862ddc0efdc6 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:06868fb9-ffa2-4e1a-a0ba-028ad7fec07a phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6629c0e4-db80-40ab-8d49-98f98bf6f725 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:94c251d0-f432-4aa0-bd3c-4e601b147369 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:37c75ff6-e744-477a-a403-d163dbc7a62d phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:9a4a7772-0664-4c50-8b22-b18cb0811368 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:1eff8921-b610-4547-8aff-a2d72cef8ba0 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:22c82605-7216-4e75-8738-00b0b9cd48f5 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:39d5f823-d247-4edc-81dd-8b1e436f7351 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:ce410c31-255d-4346-af72-3cd3fc42934b phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b3b8fabd-4415-4773-9716-2fdccb1d3da7 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:a8b46e5f-c62e-46e5-80a7-e3f2ca48883b phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:49df5edf-1afd-431c-ac11-4ffb28380861 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:7a5ce2e8-6d77-4eec-8315-3c66eaefc8f7 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:afa3d3ad-3258-458c-b941-54f9f32b2293 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6401849e-3035-4654-b3b5-35ab81aad2ba phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:9c9b3e81-de2e-407e-a748-68062a5a8eaf phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:9d8fc9f2-f15e-4076-9052-321431f909e9 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:51834cf9-ccdd-4ece-8039-d9fd6b54c2de phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:72c03aa0-a1a6-4d93-a2a6-cc695f01b5db phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:820cfbd8-dffa-46f1-8468-bd1fe07ae6f7 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:baeeb66d-c3d7-49e5-bdba-98603f5b11ca phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:52ba53ac-19b7-4b92-a3e7-1967e0c021ce phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:9c7f76d1-5816-450b-9559-72f66a63cd6f phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:82704384-62f4-46e6-a0e5-a3f9aef1f407 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:acbe7037-0616-4f53-aef1-7eeb900e966a phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:1c56d42b-e408-4f88-b3ec-9a65a11b3fa2 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:f5368752-7f7e-42b3-af44-38ef8b7a9f36 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:43650cc6-f0d8-4634-b0de-6594d42d444e phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:213e4a6a-d26b-4cc3-a588-6a332da14437 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:df2b6842-7f5f-4f16-a11a-feaec47fad97 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:9326aafd-b8ca-45be-a5a0-890849160d72 phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:fc89db99-9fbf-4b85-95f4-3939093e9b2e phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:9a482482-3123-4df0-ad5e-a1fe646e12f8 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:cbe5083b-4594-4de4-bca3-53cfdb3beb46 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:05f40290-dd3e-42a6-85b5-21a63719b051 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1b7a7347-0053-4ec3-8cd2-2206b0c6ccd6 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:21c23dc4-4dae-439b-806f-86a30423b64e phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:948a1e6e-772b-44f0-bcb3-9fb140b92037 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:970a0d93-c351-4399-87b5-284c2c64644b phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:98b8d36f-97fd-448c-80f5-b877bd3bc8d0 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:f125d737-a34b-47b4-bb81-78625cfb3a77 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4af9222a-e16f-4ced-8b18-58f9f2481ecb phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d63f5c83-c1d9-463d-904a-ef042a7236d6 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:05ade1d3-b4fc-4291-89f6-7c32f8bc4084 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7dca773a-c31b-472a-a795-1d5f4375e5ea phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:79ab4e09-cea6-450f-bf01-3467b6096c0e phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:84967649-e2fa-4a33-82a2-5c267197fcb6 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7255756a-1f6f-416e-b23c-2137d2eddd59 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:61e99422-17a8-4783-830d-29f81e3ce208 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c8d78ee4-da7f-4593-98ee-dd12239043ec phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:97abcbf6-9d4e-4728-a5bc-330e10cd8fc3 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2066a254-7ba4-4198-8b18-aa33bfa2de6c phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:37a267d1-93cb-42e7-ad76-3b9c03b3fe87 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:75027cc2-1d2d-470f-88bc-283d47354acb phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:defdfde7-194b-486d-bd05-deb73ce7b3f1 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:28784d8e-8ed3-4a50-bf82-b4e8542a48d4 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c6bf3118-8aab-41b2-a11f-36b137b636b0 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c8753413-c64b-4967-8c49-44b3bfc5bcf3 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d0056fd8-7e0f-4dc7-954e-f4d832a8d0be phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:705645fc-a700-47f4-bb15-d82bb6c3fb0a phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9976e0b0-866a-4c9b-b66e-a90993b2df02 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:08f0cd7b-62e7-40ee-adcc-d1a13670ece7 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:1aa135c2-6a83-42f0-9e29-2451e7b31242 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a63981a4-d113-4c7c-b177-c66855598c97 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2a7421b4-d773-444a-a5a5-9d9fe7984240 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6145558d-0c82-4413-b9a6-3b9471e25a6b phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:36f45ce9-f144-4019-bf56-682b7b3ca6d5 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9273be65-f5a3-4ea3-9dfc-4d623c1203d4 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:aaf99985-375c-4578-8f97-3831f7fb18c4 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0ce77455-8c9d-4ceb-8f31-2fafac4fd236 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b128bbc8-d7a8-44af-9dd7-589c422a0922 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0d484329-5bb2-4f91-913b-47b644e5fccf phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:93ac67ba-9c0a-4b17-bf93-763c26f38a44 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:c61f24d3-1a08-4eb9-8647-ff71ec2f97e6 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:26bb011b-9a31-4521-8f7b-de08cf10abb5 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a63d2e54-cbde-414c-aeb1-92e69a0dda9e phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:05131339-4e1b-43cb-ac96-27f220356182 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:23ff1e6a-055e-407a-8042-7570dbf7f0d9 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:96ed37f5-683c-4232-8d5c-afb79472b80a phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:1bda614b-f39f-4b3b-bda4-2cabdba76ec4 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:759f3d36-ea31-4eea-b616-eec93a755edb phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3fa71d51-003b-4b35-9761-b52caaa5baa0 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:96735a1e-161f-442c-bfb9-7b3e1d4db6fd phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7ce86f5d-b4ac-41a5-89b4-b1978963cad5 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d99a977e-e8c3-473c-bf3d-7c3cbe1e3fdb phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c14d361e-d351-4041-9e03-07f65c1ff075 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:872fb245-c4da-4211-b0b9-7cdc646e4df9 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4a188ed7-d77c-4056-953a-9082e47339c2 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:74562e59-63fd-406f-8059-807c8abaece1 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:52177eb4-9bb7-4d9a-874e-6a0ee4bdee4e phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:a8064d75-3615-4a0e-ab81-f733e1b68bb8 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:91f9cc48-369e-4229-b4cf-54d777cf935e phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:347c2426-8b9b-463c-8bba-01ada0d51794 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0f2617e4-acb3-4228-a0e4-424dedf572f1 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:93b85e08-fb82-4480-aba3-a160535b51f9 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:7eac830c-dcd7-4d1a-8282-e06f784fda66 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1a8fd528-cd64-4e02-917a-f1b2b89a5c0f phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:ae6cc50a-dc9c-4d85-8538-3e7c8d5d3f85 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:d7c05256-2e4e-4660-8313-51dde5e94c87 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0e758445-8e46-4632-adf9-6a990d1fe549 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:c7aa21ab-fddd-4731-94f6-7b0c0826846d phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:3677ac15-6faf-4aa7-8cd8-c3dd02fdc204 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:faaeb64f-34ba-4f59-b316-be1530522f57 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:6c1636e3-9609-4249-b892-70cbefd90f8e phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:0595c356-c865-4839-a2fe-da6fb3ad7a9a phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:2bae74aa-46d6-4eb4-9d87-b78bc6db876f phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4d98c5f5-8378-4627-a2e9-a65d152fb61b phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:49b6ce9d-9d35-4f6b-a542-5ad35b5124be phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:51ad6e22-4aab-490f-98db-811c94d8af53 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:54aea2c5-5655-4ac8-b46d-4bc3b709b025 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:fb2a1968-fd05-4b4a-a64b-d2270f168ef2 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:1c492725-3ecc-4e9d-bda2-192e5d3bab1b phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31337854 uuid:4774394c-3bc2-4297-afcd-d6289347ad5c phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:0d1e2c4b-746c-425c-87c8-a357a013f98e phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0009829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:a2f5a8cf-e830-44d8-98b2-c9821039b9c9 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:9d1e98cc-13c9-4b68-af93-ee50294a9419 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:3f17b5c3-088d-4220-97a4-212920d55502 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:b1c9a9d8-ec98-4c23-808d-3ad856ce0947 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:e49243cd-7104-4f6f-934a-dac301fc88d6 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:56e31355-05d0-4dcf-b891-31720e545c1c phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:8c9c5cc4-fe1b-494b-aa4e-f90b799c4003 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:2ab3942f-5ef3-4291-8765-9a653557dd2a phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:d39eb0ab-0c3b-4243-9447-c9e5a25c2025 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:f416d2f6-0590-45de-a645-283d5ab60a22 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:5781e46c-179e-4fdc-882f-aeba5edda789 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:653cde66-fd5d-459d-9365-7bf46e702853 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:08272b71-1693-4c87-96ee-91fdba56e346 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31337854 uuid:6132256a-dd5f-4d0f-89ea-fe2619f48940 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:0fb2fe9e-7675-493f-aee5-8cabc09015d7 phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31337854 uuid:a26a6cf4-dfd2-410c-bf9a-544b6037c938 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:0e4d565e-7815-41e5-9920-51757d6e335c phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:ad8cca6e-fb33-46f5-a50e-5528f261261b phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f18ba20d-f615-459f-a9cb-e436a6277a0c phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:a5b977ed-d018-4c4f-829f-be58708bbe71 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:f15efeaa-a547-415d-bf2d-84764ca4e6d7 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:cce5f404-2b01-44a1-be11-e160c43fada4 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:d9f6cffb-3243-4677-8052-3e2779e9db44 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358602 uuid:998d7673-c1b5-482d-a12b-9003d7e562f3 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:88d1cd73-37b5-4d15-9d5c-87ef0de6218c phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:b26da30c-2230-4911-911f-9783212f43ee phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dbf5287b-25cf-4986-b946-ca57b2968c5f phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5add4795-ca21-46de-b82f-e06c3dff18b5 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:dc247eba-7123-46c2-ad0d-7746fd0e82d1 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:1f4db78d-19b7-4ed6-b565-27d6586484d1 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:76707b6f-a792-49e2-bd8e-84bd9e2cacff phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:5d8dd0d0-b848-42d9-956c-646f2a85f40a phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:954c709c-d808-4cd2-8935-74b3b7f383b2 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:64438010-e99b-4e18-b2ad-3a54bb94f98b phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:4039c3c6-e568-4c19-aa7e-03a6d5124715 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:861f2cbc-5432-4899-bd2c-57e0c22f0b1e phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:e6eb5c8c-c2d0-428a-bb63-edc273997b26 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:57a32263-9742-41c9-b0e7-6ca47e2bd874 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:4d7f986b-3614-41f2-85f2-d6cf5fac6458 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:3b81a745-5389-493f-87b1-3a9b2e53e4c5 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:08e35efd-b1f2-4dbc-a333-30698b050854 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:77b09c9c-7bab-4afa-9289-973ca918acec phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:8effd78a-dcf0-41d0-a90b-c616a6b6a46c phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:61025fc3-8083-4955-8c69-e70c4c0db915 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:92299ffc-b681-4562-a1bd-e8b74ac0e314 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358602 uuid:105beee1-4baa-4884-82cc-d99634702ad3 phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:5ac8fe8f-620b-4189-bbe0-07cff5f44a9f phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358602 uuid:916a1acd-2009-4acb-a4b6-bc4e28ae3957 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:025e334a-6d04-470b-88e3-8399b361cef2 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:d976cb8d-fb58-4a9f-b57e-5bb7f4e89f26 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:d28400db-9592-45aa-88ea-a3cbd0dd2d24 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:16a0fb42-1816-4c69-9b8d-464fc33c5208 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:e0343023-1422-4280-9c95-6af68563b29f phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:142a23c1-531e-4f43-8206-3bce78c56c80 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:8f89da3e-89bb-49d6-843b-10f0a0717360 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:5374c843-f338-4ed8-b045-874f383f967a phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6236e007-54dc-4dcf-8ae0-8a76a792606e phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:d787a0b9-f47f-48a6-8a9b-368a4fe36ab1 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b8db2209-1931-4a58-9d1c-01cfa60fee70 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6a4214dd-46a5-4eff-b971-a69ffcedbd19 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:765da897-68b3-4746-b901-6ce1d3055170 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:0c2ea204-bbe3-4c6a-8f2f-7acf9a936033 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:a1ef0b02-2fed-48fc-8437-4cec03773927 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:01c8a4d2-d8a9-426f-b4e0-435dda7a3202 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c9ac2604-cb55-4d5f-adad-5e53c6d1410d phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:cffdb9ae-eac6-4aeb-b4f7-1aa8b75a1a12 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:0011a488-d195-4ee7-97ab-3ab9529854d3 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:e5dc24cf-8eac-4301-ae4e-9e6d358d88e1 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:da862f3b-b639-437b-9749-b9e3333650ec phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:91d7d5ff-2f9e-40a8-9666-0116e4b5c4a9 phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:8d78447e-6d19-49e6-86bd-1fb1c70a599b phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:8fa2fa65-52a4-40d2-a3ef-7a48e8e9dc11 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6c28897b-47b7-44a8-8efe-7918521c5737 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b9683a6f-1917-438e-9d30-f2d948687d4d phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:2053c3ae-552e-49d2-bdd6-bd54b25b1df5 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:e4cfcac8-b159-462b-ad7b-c7e1244937f4 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:ff33b8c0-26c0-4d16-9728-c80f55c20ccd phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:0426441c-c302-4eac-be9d-0ac8de38fefe phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:edaf2dcb-ce5b-4867-873e-e6f657369d59 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:7da1c458-2508-41ee-897b-425f489f4c3b phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c70e49dd-3e07-4303-b41c-d8178f7048c1 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:76336829-fd92-4fdc-991a-d0d6774ae993 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:3253df92-52d9-46c8-b408-f5009490c5bd phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:18368749-7deb-4e90-bb98-5d29526714f0 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:1db939fe-f088-4fb8-aed2-770df92c1786 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:f9073884-9f2d-4bbf-87be-44b4b38813b5 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b5d80462-db9c-48de-a90d-d8855771ad52 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:5c89e330-6b16-4bbb-9a27-5508b2479bc9 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:89ffd51d-2648-4302-8072-e3cf55e81e16 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:7227c72d-bfad-408a-895a-118b114352cd phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:6d343e25-ea09-44f5-bd30-0d66bc959762 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c2e9f709-7e81-4bb6-b40a-dba952b4aaff phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:67af0ca0-45ce-4f0c-b837-7612fb2ef712 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:e9a1bcfb-13cc-451b-874e-35d6f984b7e7 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:160b10bb-2896-424e-9cde-eb716bb525be phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:dbbcc9c5-6808-43b3-bbb7-795a7c7746b7 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:4d676548-f942-4f7b-8992-c2ba8bb682fc phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:108b38c2-29d9-41da-beb6-ad37e5b4a664 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:27a1c0fe-9e2e-4497-bb6e-ab9c36161d19 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c6bf552e-cdb9-4d81-bb22-8c1536f95437 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:60e067e0-a34a-4d72-be58-0c4cdf4655f2 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:01195d19-40c2-436e-b569-55fd1786e0b1 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:2bc94b97-3adb-4a3a-9357-42d85a6af8d8 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:9c5dc0ca-548d-48dd-8142-3201876bdbe2 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:ac7a8c63-a931-46ca-8561-6b23fa205e04 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:a1770ab0-0ea0-428e-896e-78d11410ac18 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:b54b8f45-dfc2-43ba-950c-0b73783ff5f4 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:8a9ad169-3291-4cef-9414-e85f8d7c38aa phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:bf395306-7c5d-4b04-93e7-09f94c79fe55 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:c6b3d0b9-1f91-4d48-be18-fbb49d2f5144 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:354c0e64-e3cc-4851-82cc-749bca73969a phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:cb141d98-2916-4193-bc3a-e7fd0a8cd816 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38284454 uuid:927371cd-3534-4feb-8eb8-3a4ca6a26c42 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:ecc0a4ec-1e11-4331-9c2f-61d61dedbb27 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_phenotype HP:0010066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38284454 uuid:d138335f-cd1b-49ad-8c2c-4d372c04e72f phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:a3d96659-ac26-4aa9-96cb-f62bba8f141c phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38284454 uuid:74c3e4e4-3918-4a2b-9446-0c385d3c2c18 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:cdd5f8f9-ca47-4fe1-9839-f1ecaa43f124 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:300f3a8b-e09e-4bad-be1c-ae53959d0946 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:b3c77222-8c71-47f7-87e5-84b034db4fbe phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:3acffb93-3bf7-4cbc-a9ab-278e84e93430 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:0236d49a-9062-4a0a-b49c-eae3fcb42ae7 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:4054c9c8-82a4-4d58-8fc9-16a972608e47 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:ba8620ec-f4ea-4257-9aa4-0653414f4e79 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:6a4e5c23-1f23-4696-99d6-54679d943bd2 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:b33a728b-9894-492b-aaae-9f65116ac03d phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:ace61366-2371-4549-879f-282491585478 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:47216291-5fe9-42b7-b61d-ca312e702413 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:247b5af0-97ea-41e3-b803-ecbff4b764be phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:29cfc92c-dbc9-4dcd-8261-947b5b7cddc3 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:edc39074-5352-4ae9-9c8f-fe3d4d6c8577 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:b9da8a50-ca0d-43f1-84af-b4a6173540e0 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:fc21586e-7068-4637-8503-b3b043ba5dd2 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:5c17bb2d-db13-4ec4-9307-35424aa8f441 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:611eca9d-ac88-4830-9ab4-4ef35b9dca72 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:76c88ac2-3d7d-489d-b429-54c9f70f8f86 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:69917f85-e77c-467b-b13b-5054b3e10aa0 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:9bce4a36-0295-4666-a0b2-5eea190d1da2 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:91b150b6-3784-46f1-9c09-0ca836084c86 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:d30b0a8f-2d4f-4787-8f68-3a798ab29b98 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:9652cfb8-157b-43c3-ac6f-3ccd4646bdf5 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:3b995405-e7f4-4687-ab95-e7ed301e3cf0 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:8b8957d7-3c01-498d-bbae-4f48466c6965 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0011120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:69dfad02-d577-494a-972d-9b818271468a phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:6b87a13e-d4df-4051-a550-d905d2c8935e phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36777704 uuid:da252014-fa3c-4b3a-add7-06ce4fae14a6 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:a0340876-b715-49f5-a321-c6253a9f18b0 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:2904f7a3-1e18-487e-bd7e-97d0e492c252 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:3b60d615-a754-44bd-930c-abe33082642f phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:eebabdb0-f081-40d2-9830-e9076f686855 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:2921d4b9-c9ff-4e9b-a9a1-8dde9d1dc185 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:29b0f3be-7c08-49ca-af98-f3c82fc5a376 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_phenotype HP:0012165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36777704 uuid:4696362f-ae02-4cf4-b7ed-b465da997dd3 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_disease OMIM:122470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36777704 uuid:30bd6140-71c6-476f-a1c8-bcaab8b7eaac phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:has_gene HGNC:28862 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36777704 uuid:da11e20a-eb5a-4e55-ad1a-0102c37b416d phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:c925c8c2-d772-40bd-ba0c-beff7b07101a phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:e7c6901f-3299-4756-9a89-787ecd5d7092 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:f125c26d-49c1-46d6-b167-dea97ab5bacd phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:0b2c7c08-e375-4292-9131-2c6563996383 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:fa6fa2ae-9af7-4756-85ff-9d4fce7642c2 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:19892bec-1bbb-4270-ad03-80a239c28e65 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:b03e001e-6233-40f0-a937-811a9e9c9172 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:fcb8c04c-d066-4626-9996-ea34dda3be8d phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:15a43467-8a7e-42f3-b28e-f6aa81e46544 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:3e7f6ef3-40bc-483b-81a9-74a55f236f7c phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:697bf8e8-706d-4366-9bd0-65c4bffca1b6 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:4cbdc2ac-bdc1-4bb2-a7fa-607cb1b0e3c2 phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31509304 uuid:2c25dbf7-d0be-4cfc-a251-ffbc47e4ae1a phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:501ca090-5d9c-451a-8184-c8abf7056554 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28969374 uuid:c9778b4a-af85-45b8-9e61-1d4929e13e51 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:28969374 uuid:632769a0-4365-4d26-a10f-a64b0f910083 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28969374 uuid:b915ef59-88ea-45a6-9df9-f628fd70d9b5 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:8d5898fc-6514-4c45-ba27-adc112ba2f73 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:af11ae93-5e4b-4029-a45b-ce73c2630639 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:1758bf2e-0bbc-4a8b-9501-cc325fc0747a phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:3f619a7b-ec80-4025-89d1-1d115afbd898 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:1331cd8e-ed13-4a4e-8c95-eb5257ce801a phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:a23ea0c0-010a-417e-b06f-d23e89b54068 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:169e3148-fc41-4677-a23f-135085ad47a7 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:3a0a4192-0680-4ea5-a612-9c969480f544 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:c1748dac-abdf-4501-83d7-e192aa754e71 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:1f4aeaa3-1b77-44c3-8edd-bd1070d679bc phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:9c51992c-3b0c-4bde-9fae-7846723f4375 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:28969374 uuid:21731eea-eb88-4a0c-af9d-3ea2f2efabad phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28969374 uuid:4eb62852-eec6-4847-b234-8c0d8e87d409 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:be8dcd55-30ee-49c2-a84f-8854cc6a73cb phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:65f5c0c2-a29f-4831-b290-1601b5be0b67 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:2ce42bcf-3efb-4cb1-9983-19a799c2b7ce phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:4ec4004b-0a91-481c-9918-bcbd7e83f3d6 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c13024b1-c7f1-453a-979c-f68d02086458 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:980ec800-5acf-4434-abe9-0a41d17db699 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:963ff080-881a-42a0-a893-95bf31d24c85 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29388673 uuid:0e8f3505-0cc7-4cbf-8bb1-a9711a75e24a phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:dec2acdf-9d33-4f8c-acb2-226b51be10d3 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:2fe73ab2-71d5-49db-b831-bf6500de495c phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:f4aca0cc-79b3-47ba-ba2f-7a6264d075db phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:0b03deb7-5e92-41d8-8771-ec7722683af3 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:99a8bd3f-5166-45d4-ad94-d9e29d5fdc4f phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:f01c5679-2d80-4e1c-9d24-293f895bb3d8 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:f79d8702-8fd7-4b70-812a-7ba7ee1f036b phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:05dfe076-d622-4d16-a5fb-b87ca7c09c2e phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:dd269443-e457-4b94-85b3-7d2aef0d9eba phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:e80c6e70-66db-4497-8433-a4906af17a17 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:1b90590f-6cb8-400b-ab7b-fc133ad83c9e phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:9f565516-9a26-4c70-9a68-44664b5ab259 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:984c21d8-5545-4b47-9e67-a10d9b7dc5d3 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:31509304 uuid:d1949fd6-fc9f-4bb2-91ff-a378f86eac02 phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:e49f67ed-43dc-452b-aaba-042fd39b54b7 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:28575651 uuid:10c21e93-83e7-4111-a48b-07582ff8f9d6 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:233c91c9-25b2-46d0-b841-9f31374b3bcd phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:fef7846a-d5c8-47b6-b4e4-14bcfc05c279 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:77fa51a4-4468-4337-8244-c93846e2962d phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:2c79a757-12df-4832-b7b9-d0cb6c49bf8a phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:1fe5c22a-5fa5-4916-baeb-61b11d51b4c7 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:a38d8b26-c79c-4259-86af-3155bce59a21 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:2297ce39-7616-4832-a292-389cd177adf4 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:661f8f13-c8c9-4429-8582-684eb91dd825 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:341667d9-8ac6-48a8-a2ec-ef79f4f61072 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:14c7d382-d5db-42eb-a79c-72123aca6e66 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:f8e29b4d-cc46-4519-ab59-d660f16f5fae phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:87d70d1c-529d-43d9-b94d-6ab441b23f86 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:28575651 uuid:0fa46969-4459-4acd-a564-660e75105979 phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:711bceb4-71b5-4197-ade9-7db160b869c8 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:7ff97d4f-c837-444d-a064-e740feac8d63 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:3be07a31-2e24-4d98-ad1c-eb1f666844fa phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:b9f04c38-182e-46d9-b297-b666083af7aa phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c4554084-52e6-4dd8-941c-dcf8927be417 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:70b5e520-b362-45fb-811b-d050842f74d8 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:7d4bb443-b671-46cd-bf9a-3983a88b4d3f phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:41be8a74-4fef-451b-a768-5508835362eb phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:0658c630-2237-4048-a545-0bfc2a536012 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:c4074c67-e772-4b9c-857a-35c7c424491a phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:f23534f3-1f5f-4f9b-ba36-540066424e28 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:32908932-1887-423e-bcf0-56330da14ff6 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:60057b2d-6b69-48bd-8a8c-48f6c938a8a9 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:e9609e3f-7079-4c88-ac7b-4539fcbe8249 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:9af9f2b0-447d-4706-8e1f-70402be28712 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:29388673 uuid:89ffb8d3-db54-478f-84e7-c4748ca4870d phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:2a1a9eb3-1ec6-4fe9-8d4b-39d422c02318 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:28575651 uuid:cc139443-e577-42b4-b235-26b09c3139f3 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:df8cc0f8-a489-4243-b2f7-cff24684ade7 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:a45b76d5-5bed-4c1e-ae78-fa5a5a3a150f phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:1e607e5f-ecd9-4d9d-98c2-5924ebe67917 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:5aa51f33-dcd0-4a3a-819f-a53b6a437084 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:7df9909f-5020-4c22-bce5-e05833874fdc phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:c1cee8ca-66a6-4cdd-9b8c-ae8ea95d6681 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:45968665-bc55-45c0-a593-b14f17d46b16 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:cadf3538-9112-4dcd-8517-f0948a67e66e phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:4c4e4559-5dbf-43e4-ad22-854998250230 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:adb2c5ca-6ac3-4a17-91d1-c8ab985eff3b phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:87f63396-b9f7-4096-84f5-37ee143d8280 phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:719e5e9c-e2f2-4ee4-b848-e0280b5edb5e phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:28575651 uuid:cbd7b22d-bfb6-4fa3-a6a1-93b269f78f0f phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:89c8af31-46b7-4973-a5e3-e729cfafdbbe phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:31509304 uuid:f3b70290-0819-4015-adca-8f99d2b44ce9 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:98a118aa-824f-4850-9fc0-4cd7060a076d phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:be3a50a7-1243-4353-bee1-3013b0f104a9 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:4f88633d-220d-4e8d-8189-95ddb4104e52 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:b5f0c2e4-646c-46fa-accf-299c766a63c0 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:6f758a51-787d-4caa-a671-c8918a00666d phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:fffbd3ef-d079-44b0-b8cb-8d50f73b34e2 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:8d01359e-dc6b-40e2-aaeb-c0a076da1abe phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:30968034-6d1b-4f31-9064-90d267997a3e phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:cf8c1724-86a4-4bd7-a0e2-088807bc982f phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:cf42bb1e-98e8-4292-9366-dd092ccd0631 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:b28ebfd3-8f87-4b66-880d-53f2b6991ef6 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:31509304 uuid:0c7cf758-26a4-420c-a5d0-78cd4d68e297 phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:bde6e747-5b59-4329-a108-7611950cc305 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:9a152df1-98e6-4ba9-aa70-2d3cc38c6bc2 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:b2291d04-8a8e-4b0b-b8b5-e7be2aff3ea3 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c90eee60-907f-4aaf-abf8-00b9b7de5bc3 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:728fbb79-0c84-4f1c-8198-86d1274ebe1f phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:d18dc308-157a-4790-8fe2-6b57a6cbea84 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:818f5ff5-3bfe-4e80-a076-abd79b9fed0d phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:2b9107ac-836f-426d-bfd4-5853a355f1ea phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:8304a5cd-8b45-4b37-b71c-3d877f19339e phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:da79de10-5862-4307-9b44-e3d258e8bce4 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:9ddc2a61-1d1f-4d5d-853d-ce14a0eeda36 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:8e82d148-cd41-431e-a77c-92cd6534299f phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:9f3bfdeb-a83e-4668-9b2b-02f4dab4333a phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:29388673 uuid:01b7b917-c546-4128-9b24-e61a5a4f49f8 phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:03f08b5e-8c53-4de1-b07e-8f3ca96d90dc phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:a171a4d7-c597-4f50-92dd-28443b22a7f6 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:183357a0-b9a2-4e94-b311-edee63da23f1 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:ccde8811-caeb-4e6b-8aff-19225f001127 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:05aa4134-8904-420f-9eb2-76d26450fc36 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:6ddd3621-9f6b-4252-b0fd-8d45094c8a71 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:ab41b363-df34-45f6-b06e-eb9fabe9b0f8 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:a2c0a1e8-3585-4856-bb13-94fa313e02fc phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:3e7c183a-53aa-476d-88f2-90c71175c3f4 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:51da5bbd-fd02-42ce-b1e3-c85107703fab phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:3a37138c-b4fc-421d-824d-d9850547ffba phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:c82dc138-7322-49dd-a20d-8de258f3e8ba phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:dc3bc149-4e02-4420-965c-86d2ffbc8ccc phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:31509304 uuid:7fcfd409-a330-481a-b96a-33d7b2e8bbe8 phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:d621e746-5829-4bc6-8688-ec8dd26f9906 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:65573c23-1732-4788-a000-fab79f1b27d8 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:cda0e321-47e1-4ea9-ab84-6c78cc178292 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:357493f5-53f2-48fd-b4bf-80c1347197a8 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:f0cf9c57-99c7-4dee-acc2-c278f41152c6 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:8834836d-812d-40e3-a64c-05a2d52379f6 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:28e2b302-dc43-48d0-b09e-c1aeacc34f6a phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:726c6f46-ca6d-46ad-bc91-49e49e7b09ea phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:b71b0ede-d3d0-4ab6-9c41-4dc59e529894 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:dbf6aabc-2a2c-492c-a49c-9c8538ec0a64 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:ad6e5aad-acf1-4eab-8e00-73fc4275b4ea phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:8cbdc09e-405c-42b1-be3d-63bd4b9bbe31 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:a52db804-f89c-45d0-8cc1-f8ef6c41b095 phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31509304 uuid:4d452333-bf6f-4fa6-9b87-029fd3a24faa phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:0375ea4a-8b51-4a1a-82d2-bc355fc6c1cf phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:df4a048f-e315-430f-a8bd-05e4e21d2caf phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:1670dd81-dae7-4c11-8f7e-ab6e97a6ef75 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:42dfa36f-b458-4e03-aacf-e527492b0d5a phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c5400207-5c2f-4e4d-8ca5-9b9486f17322 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a5136846-b473-49eb-a821-1fdab17eb55d phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:81e8e3c4-60cd-4f6f-aaeb-f43a91eee9b6 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:58296649-2ac9-45f8-be01-39a9e9ddc9ce phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:e5983ba1-5512-46ec-b591-b498265097a6 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:a2a79dce-a517-4ae6-82e3-482c004d3e43 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:731e1f80-2439-4fbf-b983-51f7915e9646 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:d54c4bd8-04d7-4d44-8438-c0219320a194 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:0ac4d83f-bd04-404e-a0e1-32abf29b31fe phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:0320a85a-a194-493b-8d3c-4ca876eab6a7 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:3e9fa095-f843-4958-8d2f-492280ea15a3 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:c9d43685-9e39-49d1-9c11-78891b1f6938 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:febd96ce-8964-4dfe-a357-91c9e7fc398e phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:0e009e0c-8fa4-4c63-a077-f403e1f874f1 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:43d900aa-1101-420b-a719-03d1ffbc05c5 phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:29388673 uuid:eb33a2e7-e816-47a9-80cf-b5a33553c90d phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:ecea1fc9-ef3d-4b80-966e-dfdd3eecc096 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:28575651 uuid:c85d3921-62db-43a8-a5da-f415cb1e9060 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:dce76080-0386-4e18-a278-1088dc900442 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:0549be87-b2df-4b20-af61-16156133e484 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:8d64a31d-fbc3-40ed-8b25-029a9dae1e11 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:44a29af5-ae32-488f-a4e2-91a2a85696e0 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:4814ddd2-2c21-4c35-9352-a377e2279c46 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:9b7e987c-1756-4970-b543-f88411532e2d phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:488914d8-518b-414b-bd74-30ec0ef808a1 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:5a00626b-b610-464b-8800-7e05d82f2486 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:1d2ff80b-52ec-41c5-afa3-a1e56f58d7fc phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:7e1c12fb-e367-478c-93fb-001e9fca8071 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:48082a20-9329-430b-9947-408fa6cf243a phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:42addeba-88a4-4a79-9f14-e2283cb5e064 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:c231cd5b-3814-406f-9519-6853e94fc192 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:6837b344-2235-43f1-b857-b7778d567f89 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:ab946d13-c801-4e1a-be9c-2c542149b9eb phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:2fa1e83f-db65-4e81-9bab-bd48f4475455 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:28575651 uuid:79a009bb-4521-4b37-bd01-8a574d30a649 phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:8597e619-c6a8-4629-9a6f-7f8da35e8c0c phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:43e3b002-b585-4a31-a659-d4e37df1422e phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:188b82d7-ce14-476f-8e74-58ce271f8d1f phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:1497845c-4e17-448e-8e0c-f06fd6d4e8df phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:44424df1-d9f2-46ba-99f9-45df5694b229 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:552ab13e-c75c-40e3-92f1-03ded0761f6d phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:476aaea1-1fd6-4791-a823-f8c1b5cbd1af phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:9dea70d4-1d99-4c62-b0c2-66b7b1f97772 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:8a310274-31bb-4a61-98aa-d77058464446 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:323539e0-ada2-47a1-ad12-d83b1de738a3 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:8c5e6628-4b75-4742-933d-6ea1d1823358 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:92ce3625-b7ad-48c6-a138-310a05ef1e94 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:2e4fc203-68d0-43ec-bb34-9c9870b506f8 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:580a6c99-3ba0-414b-9a07-70de637d23fe phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:daf09f5e-ea9d-4273-bfaa-e54097e74e0c phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:ea6d29ab-1ff7-4fff-9a82-6cc0555e3e03 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a73ec681-659d-4e26-bfd6-45223fd7d71b phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:f48df757-8eef-4d5a-9b2c-0b60a7e440d0 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:bc71d44d-f14b-447b-b0ae-c36c3a9bd7fc phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:0ad89a9b-58e5-4801-af26-b0aad55acf21 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:7509436f-e501-4346-a04d-e3f9b78da3cb phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:d86f4166-33aa-40a3-b745-fa44517e9e2f phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:d9806654-d4c7-404c-a8ba-fc3b382a70f3 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:9cf166c3-99e6-4384-9c35-c87c7f664d64 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:29388673 uuid:0c619c15-52d6-4bb2-9786-0b817ff857d5 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:3288863a-c24c-4e26-a2f2-71e29e46ebe1 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:1c25de54-41df-4c88-82cf-91292276a683 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a9ed2f8e-3281-4177-a3ce-49e9a2ee6151 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:454443a7-0783-4484-9907-74a0a3d267de phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c06bf8bc-2bc6-4840-8f10-83f3f487dfee phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:fbbd9a52-bab5-4e61-9d66-7729723c256c phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:f75202f2-f86d-4ce9-a6b3-08cd27c590c8 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c3b216b2-a36f-4a91-a91d-f14ff54111d4 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:8e0fa53b-4075-449e-9154-f363a90ad620 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c13ba748-f08f-4688-a317-7a82bf2b12f3 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:6475c672-2772-4e33-b196-93cce114c645 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a83afe2a-141d-4f1a-8622-25a32939efd8 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:d4e7b296-2c0c-4e63-9150-9ce2ae08c533 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:01790bd1-39ba-4764-aaf8-cab40fdffae2 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:366c7232-2f25-46ae-b846-35c0145081a3 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:18e58b2d-49bb-4ba8-aa36-4bef388d88e4 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:71e5f336-0bb7-4b31-b3f4-cf3f1538c64a phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:73092311-b264-4359-933f-326bbb0689d5 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:4710ac2d-56aa-4a27-8545-e9530ba5cd31 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:650bcf4f-28a2-4465-a438-7b1ce8f5e8b6 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:bf951c19-45df-4698-9331-b223fb7a6dbb phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:29388673 uuid:fea4bf0b-39ad-490f-8ce9-fb4b73603708 phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:7afd43b2-2544-43b0-b775-b5e5636a68b1 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:31509304 uuid:3ec8864a-9ccf-43eb-9701-c8483a491d6c phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:8c5b7cec-c9f6-4f6c-bb3e-421bb40dcef8 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:3289ec32-c40b-4662-b1e1-596e33fa4a96 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:954846ac-be07-418b-93af-3f1d73482c79 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:17a58d1d-ba91-4ddd-84d6-4a97d30491c8 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:c84396d9-3459-4635-81aa-b22e65123255 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:71aa7bcc-1f5b-4cb0-8465-19956a923bd1 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:92be3596-90e2-4717-bcfa-fb8788ec4ec2 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:6fa17699-f13f-42d7-95c5-91b2835b9db1 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:38f0adfd-d51c-4547-83cf-ec3aba84745a phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:b1aad233-c998-4b48-980c-344a65e387bb phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:31509304 uuid:15ad2adb-9867-492f-8dbb-c408e0d87b65 phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:e178b7aa-0e6a-425b-84b5-a39a98eb457b phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:7921dae0-d043-4c9e-82ce-ed43226224e5 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:bdc0b860-d1bb-49d3-8703-fb0c1b0cdb5f phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:da9cf888-f2ca-4aed-ab3e-adfba64494d9 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:c38e40c0-bced-4e27-a199-e82a6785d69e phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:5c62989a-caec-410b-b09a-cdc9c3709ab5 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:9cabf98b-6ee1-4539-ab8f-d8a20d8dd5fd phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:f85e45a6-11a1-48db-8685-23e7559c3537 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:63a0e98b-7797-4ed5-8c18-8f2947c2ff7a phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:f4c4152a-eec3-4ae6-b35c-a82626ed74c3 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:f2b7efdc-bb6e-4017-bfec-95b16bf32128 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:7418bebc-b957-40ff-b7a5-7ee6adffb967 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:e6334cae-7d2c-48f4-87b1-dbaffe8d370f phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:dd1d5f7b-02e5-459d-b932-7995c6755d6d phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:67a20f33-2d43-421c-8514-b61ba1962003 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:37a7455d-c890-4afd-a858-b3452b71a300 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:15e234b3-ca10-4dcf-a0df-a6ad32e17697 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:bc777282-cc59-4111-bd9d-59b08db7ea40 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:2ab8c852-b6c1-4ed6-b3bb-191eec5c01e4 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:e118f23f-80e2-4d8d-8939-f9cec8c50839 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:29388673 uuid:f4950e6d-58b0-489a-b09c-7abce972b3cb phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:5343e949-ee5e-4aad-81e7-acb127e6c21a phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28969374 uuid:85e278b8-861b-49b0-b1a6-e37d6eac5ba7 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28969374 uuid:06244024-b32d-4aa8-b954-3bdfecbf5d15 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:28969374 uuid:32f39f94-5cec-4088-a46f-9f2640699f9b phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:a60dcde1-36de-43f4-982c-560537c5f2d6 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:58973e08-5702-4623-8f5e-c93cdb9f1c11 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:92390122-c082-4c6f-9d90-b2350d5be24b phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:a79e08ba-1a8d-4031-9426-e295df7f132a phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:d21d1356-78c1-4b3f-980b-b35d431a42f9 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:97f27436-f447-445d-8045-fb24013d73ff phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:3b8a17b9-681a-4225-ae40-c289c653bc26 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:1a7f8e08-ab2b-42e3-bdc9-692ef7097e55 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:5fa79411-b88d-404b-a82f-0cd30c631cd3 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:2d0eaf84-bc85-4350-bf1c-012c86006f85 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:28969374 uuid:d61e21b6-ac65-4aa8-83d6-f011513adcc9 phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28969374 uuid:f85c582c-f798-45a0-a213-b103bf146c39 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28575651 uuid:629ff866-ec5e-4c7d-96fb-e2bed7accbd4 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:1a2d970e-3190-4749-8b2b-1bd8d3fc5a16 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:90a1c948-ae7f-417b-a519-9a18f8b72c50 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:e0de8f9b-9021-4f35-9304-55fd6bf26a53 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:30a1d9d4-ad70-4810-b066-29edc9d199e4 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:3be9caa3-5bcf-46b8-81dc-c64fca2b6ad6 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:7ba583ba-cd6a-4030-a68f-34b21ffcb8a2 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:fc0415ca-2079-4f70-a949-f49faf56bccf phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:62ba7e1f-9403-4fbf-bc41-d10d7bf7bb5a phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:bf8ad518-1a9a-40ce-a8f4-4a21c18f8119 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:fa995820-dd61-4a96-9045-4e73395407f0 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:494fa76a-4385-4075-a3b9-a420d2f82278 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:f3abb26a-e182-4af9-a974-78d115c91b31 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:791a7f38-f4aa-41bb-9ed5-802a04225cc1 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:28575651 uuid:5db0215c-4777-4690-8127-d6193cdf7088 phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:61bde5f4-8c99-4ae9-85cb-c6b17699b5be phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:528ad31d-5dd8-4784-99ab-d32fc782abcb phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a34aeb60-b225-478f-bf89-de32ba8a7ffe phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:bcb3bf32-bf0d-41b7-968d-6202edd5c8ed phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:6654fe63-668e-464b-9870-59c0ba9533b6 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:5903c7d3-c1fb-4dee-bf42-0cc12e2aea33 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:05777398-10ca-4d94-87d0-6c3eb0dee988 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:09b8b97e-748f-4022-84c2-1a29047ca628 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29388673 uuid:9fba942b-1dc3-41e5-a14d-c8460ad29b07 phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:4519c4f7-0b8f-4732-a15d-5da95fb7516c phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28969374 uuid:a08734f2-6d01-42d1-a1b4-b8cee3d1b83c phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28969374 uuid:1d46517d-68f7-41bb-9d92-ce4d5f526f33 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28969374 uuid:2974d455-803f-4178-8202-cebb464a0658 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:def5d91f-c1f0-4573-82da-7575ec85565c phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:a38ae85b-0ab7-4f84-823f-72d30b163e34 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:b366d5b5-9156-4969-a020-2e725f44f5b7 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:e77782f7-0628-4a65-ba20-2bc04e2e4416 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:e71c4508-d645-471e-96d0-7fc9a358eeec phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:7372b26d-26cf-4947-8343-79b3ab486910 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:e076f05e-7b3c-468a-aedf-a3c79edef65c phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:b222adce-f94f-479d-b17b-c8569e5b4164 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:9cbe3613-e436-41d6-91b4-9df2b4a74b4b phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:5e462a30-5ee8-4efb-a2ac-cdb52ea48a59 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:afe77b1a-1162-4275-b76b-c6e88951b428 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:28969374 uuid:40c6a6fe-053b-4ecc-9771-5591f09b7da6 phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28969374 uuid:dc634f4b-d4e1-49ac-89d9-54c6897820c4 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:28575651 uuid:7aa9c998-b6eb-47e0-97d0-4e4979918799 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:b175090b-1e7b-4b39-ab58-e5399dbb688c phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:f910430e-d4c8-43db-995f-19f94bf546a3 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:878bab34-7884-49f8-8270-8a15479776e5 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:c3a6690f-9cfa-4795-a100-4e9678e3d91d phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:c38102e0-ce05-42bb-9279-7a223dcd4e86 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:a0781ee8-8035-4af9-a652-8f7c840e3823 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:7f931420-e2d5-469d-b2cf-38556141ce3e phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:f614afdd-8f9e-41b2-a93a-811f46493003 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:f0a94394-18a4-435e-8365-5c0b5131395d phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:b2e102f6-c481-4d8e-acc0-34d9a76566b8 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:fe01409b-99c6-4af7-9bcd-19c96c616281 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:dd18feda-574f-4bcd-afd2-d07c0f24157e phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:555131f2-e2b1-4442-afe8-13809344af11 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:51ec968e-90c8-4ed4-949d-1bfdfc91afb4 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:bbe5928a-9b68-4183-8c7a-14174c47e3f3 phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:28575651 uuid:30ef6b93-b848-47a3-9fe0-aefe208dc43b phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:95a1b946-8495-49d0-9739-e9f976f677a5 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28969374 uuid:b57e7981-089b-4046-a0c4-268001bac452 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28969374 uuid:83b7c69d-3cba-4365-b8bd-c651e8afe70b phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:ceb6cfa6-eef6-4806-83e5-8d01588d590d phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:e28e11d0-9f77-4ea7-a6aa-8a8c086288f8 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:bb2d6721-e9c3-46ab-a33f-15376ede5d4a phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:04f7f066-7971-4b4b-b137-1b76267caec0 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:a28008b3-7369-4839-9a15-2f4eaf0524db phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:ff5aa1a4-8761-4e0f-84ba-f018e0cace9f phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:72c1f8b8-fd61-408e-9c36-42bc2562a0ee phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:50877c07-a24d-4b02-94f8-2d2af5aeea68 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:fcf8c060-c1fc-437a-8890-d0f335210238 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:b6d47bb6-4d86-4afa-85b1-eec2668c3f35 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:bec866e4-2cf0-4550-b725-87bf8f9e5ba2 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:28969374 uuid:541b8b5e-59f8-47c9-ae56-6ff028747820 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28969374 uuid:26d13a6a-7042-43a4-828e-3732c778006d phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28969374 uuid:7302b878-9ea6-4176-808b-c6772dfe11bb phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28969374 uuid:eb845204-55df-45b3-9a5b-d7743f19214b phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:c55587bc-7117-4c29-9931-86a479f925ed phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:541b0ad0-40c5-4da5-83a7-0156337818d8 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:4bc5c58c-26a1-4189-904f-0724899ef6c5 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:4017846a-25ae-48a0-ae94-07d12ad9fa82 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:fccf6a43-6a21-4e8c-b821-353454aa2c55 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:62e7e87f-6fc9-4dec-b300-0c29232d8d4a phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:b86137c7-cd87-4904-bd14-e48b439b2872 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:b739b0c2-e8ef-45c4-9ff5-253dbac4dda3 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28969374 uuid:8703d124-e103-486f-abd1-43da883c39a8 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:477c8988-9a0c-48c4-b0ee-27498104a07a phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28969374 uuid:f4098636-b613-4731-b265-0feb8b5bba79 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28969374 uuid:a037df7c-5186-48ba-8cef-1c30a9ba0d25 phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28969374 uuid:76faed61-0696-4c51-bc1e-fdd94287aad9 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:adb9b7a1-394c-4ca1-a889-8e8aa1a4f66d phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:f40f25dd-88ee-4d05-ac2d-8fded76d1d07 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:763519cb-0b1e-423d-a6ed-77b560eb0397 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:4b032715-8bbd-4dca-9895-9a63ec1975e9 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:3c4de708-aeef-40bc-b758-91d99e31016e phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:60499ed5-5a0c-4792-8f3d-6af89e6730be phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:cfdbb07f-18b0-457c-8feb-f356f46cd2de phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:286bda8c-ed27-4611-be01-5154204fcdea phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:e78bb58f-8f7f-4107-8ebc-fdfbb9318c7d phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:7f80e51d-1ae0-48a1-930f-f8b38685d056 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:35c8259a-aa98-4677-8e10-694103f34f47 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:e963560e-45a9-408c-8eab-349a912c3af7 phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31509304 uuid:73a76860-0e47-40e0-bcb1-8a761250145f phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:2704ecf2-a758-4dd5-86f0-45188f971563 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:a9b194d5-c649-42d6-a295-8a79c295dbf1 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:cf370231-124f-4d0e-8168-e7b86a3da665 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:97515d69-1acb-486b-9f99-39a0553892bb phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:fbc20aa2-bffe-464a-bba1-ce1d03e4748d phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:8044a730-b6d9-49b8-aa16-66113e9cdc2a phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:79f4f740-f7da-435d-87b7-3fadee16df0e phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:19bf07d9-eaa9-42ec-9d48-e5a49cbd8791 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:328a1795-c1e6-4a47-b25d-1b6fc74e04b2 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:c4deba95-498b-45ca-bc26-2aefff8278a7 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:45e2d6a9-0745-41a4-b29c-9f0f27e07742 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:af2dc087-98b4-4399-b4e0-9abbf36f432b phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:6bfa0fbe-e4c5-41c7-8c0b-38e19dd177ed phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31509304 uuid:b50102ae-718c-4f90-9600-62126e6691b8 phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:91a1d97b-1312-407d-812f-76eecdca68f7 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28575651 uuid:aea3ae47-c779-40d8-91b7-8a488c95ceab phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:8b9491d5-7c70-4daf-a649-8cc1947a8bd6 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:caf713a7-253d-4992-a381-8e68bf435b1d phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:d0924a0e-f767-4ebf-9f67-5bd9d17dbb73 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:00a7f5d7-30e9-42ef-9552-5da790f72be9 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:b5f5deeb-a962-4cbe-9990-11f72c37553f phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:442d794c-c769-4aab-a56f-3ac6ea1ffcec phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:89e73c02-4164-4d19-b453-911b8f167ffe phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:8596ba50-680a-46f6-9bdc-a18a2de0eab1 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:6d749dac-35d8-48ac-95e9-dd2a7d29c6d7 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0025331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:09a9f4c9-f9dc-4db3-bd9a-a7f44498e821 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:fec2870c-0da2-4b82-96f4-224dd9f06b59 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:97722593-0060-4b73-ae3a-1eabc1851ce7 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:f8af6557-d7e6-4b61-bba2-48ba62a34687 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:d9f2437e-fe73-44a3-a865-6964779b0a7b phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:51e0705d-fdb8-40c2-94e9-b442bd5711fc phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:6dfc9f08-7f88-4851-af60-d027cf866bfa phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28575651 uuid:18236a3b-5217-4785-b34e-2e7ae849bcb8 phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:c3eb12af-b5ec-4272-bc23-098abacd9be9 phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:2a541661-6f51-4187-8cfa-6fd2386250ee phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:86450b68-8058-44b2-8074-2f6b2f838a8c phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:009f4c79-05b0-4320-b08b-6e2ad030c4b2 phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:12a1eced-70b2-4dc5-b02d-4c0cb4bf5eba phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:7048b9b6-bf5c-4ca4-b371-c2babc29994b phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:b6ae2881-a078-40df-948d-4d2230edfbe6 phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:76e947e0-7085-47a6-bf74-1950c86f27c4 phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:b332a642-0dd0-4505-a87b-de4bfab6e647 phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:8e31e4b3-cce2-4f83-8916-8cdfff32f62f phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:40600274-8c32-498f-81ed-78f16e629a3a phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:c8438f83-9f1c-4abf-9bb5-ae908b1a1eb8 phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31509304 uuid:92822eb0-666c-401a-95ef-cd8981527e9f phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:2a93da34-90c6-4cbd-bec6-0f4dee00be09 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28575651 uuid:8d163a1b-292a-416c-a012-b618ef077088 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:65578285-e6c9-4d00-8bb3-36845f851954 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:6cad7573-cc7e-48b5-83f5-9e3e6560eed2 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:0f853b9c-5f36-4961-a4f6-d3c0a080fa06 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:b75f830a-cf8c-42ac-a57f-c05e1d5b0312 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:c09ff549-2889-4c1f-acd0-dcdb17eff13e phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:73eee959-7b0c-4924-a0e9-9e10ec88ed2e phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:24037d17-7d3e-45bc-ab23-dddfc0e63879 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:9f2ef7e6-b277-4382-9466-a0764c7d7aa2 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:e2acdfaa-cc75-452b-bc90-80decff2e546 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28575651 uuid:3777f7c5-33de-45f2-bb53-f8ebf5a3036a phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:384a53d1-4350-4bab-9357-d5a60b4afccc phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:42148ce4-3cf1-464d-8573-c2086334e3ee phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0033747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:08b860b0-a708-4c32-b7fa-0fc25559d952 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28575651 uuid:a7d8ffdf-6a0a-49f3-8ab9-d9a9271aaaa3 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:28575651 uuid:b50f718c-d59c-45f7-a931-2e5f262fea34 phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28575651 uuid:c4a25df2-596d-4140-a9c4-ddb90f461923 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:33231e07-05f2-4a15-b7c7-929dc8592ff7 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:2126f14d-bf5e-4435-ba2d-a4e07150ade4 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:20472732-e536-4f39-ab01-198652b3a3ef phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:3c74ebbb-0a24-46e5-a290-7a736c4f2abd phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:ccd50234-d9b1-4268-993d-e8b1d82c31d3 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:aacff4a4-c8a9-42e1-8a82-28e049cd78f1 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:5e2d9254-7127-4732-8a53-f7d5b354c841 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a137874a-6fec-4e33-ac69-4f48f225466e phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:0d9016a9-687e-4179-b7ba-dd7d6b240b1d phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:4ff166c2-c582-4e69-8d9e-b80af4978d42 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:997f994c-794c-4668-aa6d-ca219752dfbe phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:78017cbf-4d2f-49ea-9313-ec8562b91557 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:593268ca-6056-4b84-b0ef-40e5602b09bc phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:1be899dc-f421-4365-87c8-55a99ed08fb7 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:03d7c0e1-7cad-48c5-b35d-b04056d22140 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:2f363918-62b2-4d1f-983b-e8be7b33afe9 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:1692c76c-c2ed-403d-b3aa-fd012a3ed339 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:a4cabfce-97c1-4895-beac-3a141b437e9a phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:6582b164-2d7b-4d46-b08f-85c6ac3dc021 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:b7ddea0e-d987-4ec9-a5a0-68fbefa5e8e1 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:7908b364-5df7-4eab-b12f-967d0e20c1d6 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:1662f11a-6e84-4020-acc0-5c03a2047519 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:29388673 uuid:aa1c12e1-8a3e-4845-b559-13dc210e7ef4 phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:ddbc0ebd-598b-411d-9567-d30eae233a2f phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:366edf0c-0edf-478d-97d8-a2b7946a8959 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:7b55f304-7c09-4b3c-9749-a8e6ee9e6b57 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:49c2cc22-3bf5-464f-b6f2-69f1d3378cca phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:96424b1f-b8c2-42c4-8d5a-6f98d0b38b10 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:84460bc9-5010-4462-9ed6-342c8297b29e phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:0788a20f-90b4-401f-97d5-2359e94b8997 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:717c8de9-4a58-4443-8f66-5a239ad0278e phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:f2328427-d134-46d9-97f3-e956347cf187 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:6bd655de-1e71-415b-b67c-48e02f774bae phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:ee756d5d-d490-4d14-9baf-5e57fed94bde phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:0162c957-b852-46db-9129-502a178f9e65 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:e05a876d-75b1-46ec-8461-fe0df5a51d90 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31509304 uuid:def0eee6-7be0-478a-b3f3-a4837121faf7 phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:766b7070-8c9a-4795-8c0a-8727dcbc773d phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:120e4299-bee4-43a3-aceb-772856893fd3 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:b95156f2-3d72-4fa1-a87e-31748fe18c6d phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:2bc89d8c-628f-432e-a24d-875220e73757 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:a7e32bac-3595-4eb8-9aaa-2810df8ff040 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31509304 uuid:874804dd-8fa0-4082-855e-dd57da21afc4 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:081c674c-107a-4f0a-a24a-2f51e36bd45d phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:638c060a-da46-4391-a8ad-9934253d4fdc phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:33bfb21e-2bae-4bf7-89ce-bd9bd1a6c0de phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0000571 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:7acdd985-cdaa-4da3-93b1-fed8d43d8ce4 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:c7dd9190-1a7e-4986-9c0a-471dbbfc0ace phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:77eb937a-5a53-44ac-8c5e-b0f6e57d1b30 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31509304 uuid:0f5d55a2-647f-4ee3-adff-23567730be46 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:31509304 uuid:2f99cdd4-5110-42db-a685-0246a72b3a85 phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31509304 uuid:6db29833-5123-4221-9154-593dcd2a9742 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29388673 uuid:702945c4-6672-4ee6-950b-dab4df243f25 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:ed8df86f-30f1-4eab-9d25-4663ecc83117 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:2bc5a814-f6a7-4448-be39-30bfd310050f phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:2b1c7ed6-4731-48b3-b722-b5270b187524 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:86100b0f-fb91-4b96-b3ba-8877c8f34fa2 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:a9ad9aa0-a0ba-4782-89e6-c490a1fa11ba phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:f3e3258c-b2c7-4e7e-80e6-91b634157b1f phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:b4e8889c-1aaf-49ff-86ff-190d3b79af4d phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:92e9380f-171b-400f-af69-1d05785a3396 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:6bd37a26-fc0e-45b9-a646-5a8a8504679d phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:72d6a7c1-d012-4ba6-85e2-b2fb0354407c phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:fd963d6a-c3b5-4149-9014-097888046821 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29388673 uuid:7d7b1725-6ec4-4e3b-9edb-1368b1e34376 phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_disease OMIM:617560 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:29388673 uuid:cb31d610-4856-434b-8a42-7d56a19f03ae phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:has_gene HGNC:19321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29388673 uuid:00bd1b86-f95e-40d2-8c15-d7712c8bcce3 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0001025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:27435956 uuid:e82abb57-9d6b-42d6-ae35-3a982ba61f6f phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:27435956 uuid:9e3d9419-d103-4224-90cb-d7001249b55b phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:27435956 uuid:f2ddfded-ccb2-4609-bdbc-7d9f8032911a phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0003565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:27435956 uuid:646ec55a-c7b0-4df9-88ad-afe0ed146156 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0031191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:27435956 uuid:0b8f393e-613d-4afc-8748-981a71d4a36b phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27435956 uuid:c23fd695-a452-4328-9fa2-b1370a94998a phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0002516 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27435956 uuid:b00e89a6-4d3d-4b48-b869-e08408ac7086 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0001085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27435956 uuid:c2f1b2a5-47c8-49e6-a799-467aa061d741 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27435956 uuid:48c6f865-9716-4259-b8c0-99d45faca377 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27435956 uuid:2194b858-c723-4427-ab2c-0f7f440adc64 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_disease OMIM:191900 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:27435956 uuid:c2f92b03-5c1e-42c5-ab4e-8ba847ab9684 phenopacket.store:NLRP3.PMID_27435956_case_report biolink:has_gene HGNC:16400 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27435956 uuid:4fed254d-0c5d-49a2-992a-670e5f596fd2 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:2a452d9b-1cb3-46dd-ac21-b2bc0504eb92 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:c4c85532-b5ca-47e4-a58f-9b22128bee0a phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:56cfdd17-6257-4fe7-9018-42d6d5e2b143 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0009771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:881d130c-1454-496e-bac4-4bf2d55c67ff phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0005625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:7eb84c85-d4a1-4985-80b5-0cf72805a93a phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:55ae8096-2e49-4b63-a69e-d10df0214f32 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:23566664 uuid:85874c35-013a-4cce-978e-721aa66156f7 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0003419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:23566664 uuid:1c1fde5d-89ec-4842-847c-e932aab7dfc1 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0002953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:23566664 uuid:4b5e1ec9-7360-4c3f-ba28-f9d09e5a0b24 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23566664 uuid:627f1e48-cf10-4b92-ba68-a066158936ba phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_disease OMIM:102500 biolink:CaseToDiseaseAssociation manual_agent observation P56Y infores:phenopacket-store PMID:23566664 uuid:5a828c84-c70e-4102-ab04-27cb346f1600 phenopacket.store:NOTCH2.PMID_23566664_nan biolink:has_gene HGNC:7882 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23566664 uuid:f8fcb9a0-5f37-467a-af59-f0b24a3ba110 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0007017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27900365 uuid:59a6fa43-b442-46a5-a41f-b63a167c8021 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0031987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27900365 uuid:71b61141-9205-46c9-b67f-e964c8345264 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27900365 uuid:5a7ca957-3465-4d4d-abee-9ea04fcfe5ac phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27900365 uuid:6f5900cf-e278-471b-b929-0993ce6e0043 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27900365 uuid:c9c4c45f-e35b-4d3c-b6ee-256a6b002d94 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27900365 uuid:c2f38c47-8a69-42b2-86da-143e45a87895 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0003651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:27900365 uuid:40504048-0cef-4414-ac63-a7e562e954cc phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0031833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:27900365 uuid:2f3bdfb9-507f-41b7-8479-bbba2f1ccfad phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0003349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:27900365 uuid:cabbb848-d358-438e-ad8f-103da1e1b160 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:27900365 uuid:3363aa16-f401-4c5d-aa7a-514ad185725c phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:27900365 uuid:be38f4bb-70c3-494d-b1f5-fb8e32886277 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_phenotype HP:0006579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27900365 uuid:d6e355c8-8b5d-4066-b16a-2a41e57ff5c8 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_disease OMIM:257220 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:27900365 uuid:fdc2a468-86d0-43ef-9ddc-89abc9ef55c1 phenopacket.store:NPC1.PMID_27900365_patient biolink:has_gene HGNC:7897 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27900365 uuid:4c8508e4-79d1-4e51-ae82-dc70868fe151 phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:28392951 uuid:4ec5d81e-baf4-4b03-a00f-b49318e0260e phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:28392951 uuid:7e119822-6317-42d5-b80d-9dbcb971cfad phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:28392951 uuid:db538003-0369-4add-8446-3af377c6a7ee phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_phenotype HP:0003075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:28392951 uuid:4f30d071-b59a-4d27-b091-8e7405bc0263 phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:28392951 uuid:0d1ccecb-eb62-4b20-bfc8-bce03a9848cd phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:28392951 uuid:0735a83e-3dd4-4551-860a-9a0f5ed96ce1 phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_disease OMIM:256300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28392951 uuid:e65c6012-2b53-4eb6-9bd9-fbdbbd60558d phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:has_gene HGNC:7908 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28392951 uuid:14509057-a062-4237-b4ea-02afeed9330d phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28392951 uuid:c0d8da7f-02d2-4bcf-b6d4-1d4c2521646f phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0012050 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28392951 uuid:62d28641-f3a8-4897-883c-a1e47c962a85 phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28392951 uuid:f94db734-bb25-410f-a021-2401c0049f72 phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0003075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28392951 uuid:afb4c4ab-0836-473d-a2f5-2c221c3753ea phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28392951 uuid:d33451be-a16f-4c7d-a3e5-e127ce5ae901 phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:28392951 uuid:3b1d4107-ed6f-4062-b2a9-366d780c15b2 phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28392951 uuid:a42144dd-260b-49f6-9e68-0d6a420e5e58 phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_disease OMIM:256300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28392951 uuid:73af6705-4f16-4169-9981-cdea8040a1bc phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:has_gene HGNC:7908 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28392951 uuid:1cf55208-2042-4203-8bd4-f38e99e3b48e phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:28392951 uuid:01c8ab10-0475-4b6b-a83f-fed41944b602 phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0012050 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:28392951 uuid:f4931066-00e1-468b-8897-b1293f45da07 phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:28392951 uuid:be6a9839-e06f-4534-a045-2d88b64f529a phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0003075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:28392951 uuid:90b8d4c8-6a0e-4145-836f-463fc5e4c8b2 phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:28392951 uuid:4f38abd8-69fa-4ac8-ba5c-66163adf5b4d phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M9D infores:phenopacket-store PMID:28392951 uuid:f77c7cd3-2d4d-4095-a86e-6bfa63988565 phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28392951 uuid:3fe1e660-f9fa-4558-b1a2-e83f29ae83a3 phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_disease OMIM:256300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28392951 uuid:92d045d5-4a50-4eab-835a-f24df7e1d2d1 phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:has_gene HGNC:7908 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28392951 uuid:cb27c1fb-79d7-4cbb-b347-8aa04bfbc9ac phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0009381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:dbdc5292-dc17-4aae-918f-ef8fc4e1def2 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:19200bf8-5503-469a-acb8-e98dbd4930df phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:33dc3055-55e1-41aa-a8eb-6fc8eb4d96ec phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:ff846e58-0252-4c4d-a149-241c5dbddf55 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0006009 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:9b1fd0de-5544-4601-8557-c6eb98da7ef7 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0001230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:5c745424-bffc-49d0-b73e-5b8ddf8cc526 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:6adf3fce-3f60-4f20-960c-a31355a084b9 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0003038 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:e49db5ef-8d50-4694-b28b-a9717d08e52c phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0005736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25959430 uuid:0180d57e-ed37-4706-ab8c-e2a7bc0d9227 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25959430 uuid:8f47644e-41e3-4dcc-b623-5adbafc96450 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_disease OMIM:602875 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25959430 uuid:a59a7ad9-8d1c-4d8b-bf8c-81aebd85dfe4 phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:has_gene HGNC:7944 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25959430 uuid:7fe0324e-7566-4dd1-bb84-1de3967f7592 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:20038f41-34fc-411a-a86d-1de18805e7bf phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:bcffbb00-ebcf-4990-a27b-eaa357b1d877 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:58d775d5-4d17-4d0d-9acb-27a66f103f41 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5e881ad1-0973-4960-b4dc-95fe4d074c5b phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:26041932-21cd-4040-b330-a7ed1b1e7536 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:23f735e1-bdc9-4bc9-8169-92fb3edf9cd3 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:70010dc4-dc7c-4acb-bab2-666ac6387005 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:75554d67-4118-43cf-a702-794ef8ddb7e9 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:d9079be4-1978-49a4-8d83-5e38590ae20f phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:02df1c1c-b3e1-4899-8b74-e3ee902c4898 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:817023af-b318-4f46-8f98-b14625be6475 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:53626ad9-33b8-4ed9-904c-7274e849af9b phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:b6a1d90c-0675-45cc-8d16-b0b3f64d0db3 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:cbc61e90-a3f9-40e9-9d6d-acd55cd18f78 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:275f0d62-52e1-47ed-84f6-a648f7504047 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1e80fe7b-9777-4a8b-8d27-e6d8c4184f3e phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:30cb38c4-0822-462d-baf2-49923fad5235 phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:52ce650b-6d18-47f8-9c5e-2d021c44ab17 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:54b8470b-fac5-49b5-ae32-9539689c1a27 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:466d13e8-e729-42c7-92e4-f365a13d12ca phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4f7656f2-d127-4082-ae2c-7adc4d8061e1 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:79bc7afc-8c2a-42cd-ab32-4f0601da8438 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8d0e1607-3b4d-48b3-bf12-a5aa85b0c8a7 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:cd20481b-2d72-4504-ad00-7c3d847b48c2 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:eb30a614-b40c-4e51-9755-ea5b21af25cd phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:2057cf90-ec16-4c45-a4dc-c4460d7654b4 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:422e541b-695e-4e06-8cde-3fed9c4e5a71 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:9c7b98c7-7903-4d5c-82d4-12efbe1b20e0 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:645c2cae-75eb-4394-b1ec-6e4a778094fe phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:547be0ab-1492-45ee-8f1f-bf1871c91f32 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ec6f6029-fffc-4168-afcc-9bf275cb30ae phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:71f4e879-e089-4eca-b6db-0964f2b004b5 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1f568131-68b3-42fa-a942-6b7e0e93f7db phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:df4aca80-2794-4ecd-89e0-d830aa8ca8b7 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:5736538b-81a7-43de-a1fd-a7cbc78be834 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:fc705231-5c63-4857-a51d-0f1d2ff0bfd4 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:3c47204a-d5c7-4835-8d08-2fcde8964ad4 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:c0f53938-4eb2-496b-aa06-dcf3d5269f78 phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:fc7fbe29-e5bc-4893-99c7-956dbcefbed0 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:422a3196-3e1d-4bf3-869b-7a960f584c37 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:17fa1e40-5747-4cee-9fe5-bf9c691d2da2 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:3b37866e-906f-4981-875b-2484e30dbe4d phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:03145034-4ae8-4394-9a40-6771b87177e9 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:9e38cd3a-7baf-41cd-9ffa-5e6c930a3854 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c88d65c9-c82d-426e-99e1-eef5c361f273 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4b15795e-0c65-4800-a5d2-9d9b8904498c phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:cc8f477d-286a-4dbd-bfe6-92b6b6eedbc5 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8f0338f2-57be-4b63-a714-ccb46ff2934d phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5219fc45-f299-4fd6-b058-2e2bef904d6a phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:2ba981e4-34ac-435f-a833-f78750190bd1 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:2d27bc7d-e2e7-427a-bf4b-3b288415fdd0 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ad26d987-242b-419d-b62d-7db80664bf6e phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:171f696a-6e6d-4db6-92e9-555c28efac64 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:dc4309f5-3640-4a95-9a7b-8271da068a0b phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:e34794e7-1c81-4b77-a9d5-74f4349dbeaa phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1cb3e7d1-8f2c-45ec-8d13-1f7f4944974e phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:4e9f73ac-76a2-4be4-b605-50a79c330cb4 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:0971aaae-7338-47be-aa8f-41717df945ff phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f67eb1ca-a504-4481-ae13-2f9405ca57a3 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:08a5f17f-f956-40f4-a7b8-0a217e5ee5ed phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:91a7744b-a47a-4e58-915f-e10e9a93f382 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d2301500-3321-48f4-864f-7f268fe248ba phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:127027cf-488b-4a06-85d0-2bc27e0266ef phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ef8a7731-85c8-4eec-ab83-2c9938a4a543 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9b0a66f7-f7d3-4c71-b4f0-5c2b03b5f051 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d207293d-9216-417d-ae79-b3cd6eb369f2 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:b3ef945a-1475-447b-bbff-af21910e95b2 phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:6ca31099-eb58-4731-8aca-92f47ea2f894 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c66f8550-3f8d-432a-a058-2100f307ebf4 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:37fc7d45-b8f8-481c-9760-0e8afbc0e69c phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:e144d698-64a0-4ff1-9923-fe4b9b92e096 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:40f51b1f-9b5a-4ce1-96ed-43b71d9f676c phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:ef39be17-4c79-4e78-85a6-aa31b7a8b8bc phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5fda8994-b8cc-4b3c-90fd-3f0e583fc901 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d7d2407d-daf4-41cd-ad1e-2d32fefb0b77 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:02506725-6f96-45a6-8c02-a473268cdaa3 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:55d792b8-81c1-4a5c-bb01-8ce973910867 phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d5ec2479-3baa-410b-bd16-35586c3e0fdc phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:2612fbc1-58f9-419a-969a-dfbe5ca2ab5b phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:e8272942-706e-44ec-ad87-259eebb0f836 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5d478452-0cd2-4d99-821e-8988a1c0b49b phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:a60f35df-cec6-4571-a24d-9e47dbeac5aa phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:7c8e52e5-c86d-4551-a34d-50b908783e51 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:18be0ca9-5702-4943-998c-7680702e91c8 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:831c7683-850d-4a38-8249-9c28f647a487 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:e0a91208-85af-48a4-a0ca-2b2832dd98e5 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:635101f7-2476-4637-8f1c-c1971c8ccb1d phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:7e02dda1-d57f-40cc-bac7-f2a9ff3712f8 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:a80c3cba-3471-47f8-966f-57039db15f26 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:70863084-d0eb-48a4-8a9d-16b7e1bd329e phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c4739d6b-cf21-48d8-bee8-20f8ba4db035 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:b8c4d07f-6574-4550-a386-06aa1ec842e4 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:da626a60-7074-49fb-a949-34b1e871b4d5 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:2a127d64-490f-40c5-b63a-a03bb6f95d9a phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1e49394a-56e5-49aa-91f8-4152a7faf9d4 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:e3f5e95f-f813-4203-9845-905c79c815ed phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:abe3c8e7-1ca8-45a4-9f2b-4b8e8a91edf7 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:7ff29ab7-008e-4b39-882f-446f1d5a80b0 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:3696bf1f-4480-4e6b-81a6-240283e9d853 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:020e8aea-0a0e-4e5a-ae78-c20c98f04149 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:033eda6f-f6e8-45aa-9259-48ec6ae3e256 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:5a9ebeec-bb0f-4ba3-a151-8e1614a62fc5 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9070d2c3-ddbd-4555-869a-53149355e5c9 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:60fb5449-e58a-4126-a24a-be9150523948 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:16ec626c-ed1c-4505-8f89-4a9ffc35acae phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f491600c-5138-43ab-88df-21d51efb4900 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:67f7d59f-0881-4547-a173-564a4f6afbab phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:91433a9a-c53c-4427-b600-056c059a2f56 phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:7e3ef5b2-862f-4d2e-8aef-3e123c081a34 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:bb81fc8d-46bd-4254-a40e-fe66f5702341 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:97dee183-3993-47fa-8809-a9bf4b7e8b9a phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:a12de5e7-8353-4a64-8b7a-6325ff470760 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:464083e1-1382-4ee1-aa57-9f758fc5c01e phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:95dbd695-937d-4771-a287-42c04a764e72 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:37029ad9-7f4e-4560-abf7-0586aaaba2f1 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:ccaee3ea-068b-4bbc-91a9-10ac10266405 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:d4be58cb-3d3c-46f6-8c19-ad682221067e phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:72a14674-74df-4d8e-84c9-01a88c6684c7 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f151eab8-fa1c-4ae5-a31f-19c858b7e033 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4a519ba1-c3f5-416e-b841-4c08d6b09fe7 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:a55991fe-dc5d-4141-9670-1066444b9f99 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9ea991a5-f6f4-440a-bf83-7d97ddd1866b phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9edcf955-6fa9-4d4e-859f-dd8246edcee0 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1ba4b8b4-e080-438d-99eb-a697081bbdc9 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:594a4344-904d-486a-bbaf-532547f0edb4 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:b3e64082-b588-4698-8176-29f256e14a2d phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:c73e27e2-437e-4e20-a4e8-0053e6a78aa9 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d3dfa5ef-132c-4509-b4f2-653a20c23985 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:a510e0f1-68b7-46ac-a3d2-e3421afa88a3 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9cd0c7ce-2ea1-48f0-a113-a20c0f72b0a1 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:cc8b2726-da55-4a87-a94f-3516cfbb9b8a phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d11c68ce-a0d4-4e33-b873-f7fad19cabcf phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:08e62d5c-9fef-4d07-ac46-6537a4a86a8b phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:96d06f8e-1e25-45f0-b260-6856acef0fdc phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:84c18256-55d9-4f6d-9ac9-e4973e338853 phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:6717224d-d4d4-4181-aff1-2064ca61aa25 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:ab3cf344-f8f2-409a-bfbb-a0d9f4558e95 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:b2f9642e-91c8-47e7-8712-e277959f3bc2 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:d3367200-1dba-4ea1-a371-743f31b216d4 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8c890fd7-0be5-4f85-aaf6-eab34500a3f9 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:43880572-32ae-4203-bab1-820ac1fcd924 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8c76f6e4-e3a3-404d-8dc4-0d041a48a435 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:1ff292f5-95db-435c-8457-c1f2f3b40663 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:29bfd574-2ed1-4312-9e11-20a995d25319 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8a3c2056-72fd-411e-b89d-ebe16cccafac phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:26f1fa9b-8bab-4c47-affa-ae069f0cabfd phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4a903a67-0261-4ae4-9e39-98d810af77b3 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:14435d26-97c0-4648-b5af-b93e36dbc8b8 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:545cada9-98b6-4898-9c0a-c6258eac01a1 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:86386663-a5ee-487c-9d6b-5f0e631e77d5 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:fc3a0e2b-90c8-4bcf-a326-fbaa680c5ee0 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ef9692d2-a2fa-4064-a261-56918d7b5167 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:83a1ac87-a06e-4424-b8da-cdff06bbdcf1 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1e478bd1-87d3-4df0-8e81-205e466d49a7 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ae70f219-7b3f-4a9c-a16a-8a3323cad2b0 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:4b6f8ffc-d568-4795-975e-7a14687c01ce phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:49647544-c7b5-4df7-ba30-eb8d9fad9322 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1a42fe33-89ce-40ed-81b2-ed3048c448d5 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ff5b0d4b-7d11-4f85-8433-f61e0bc498cd phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f723afef-3db2-4041-aab0-cd37ad06f742 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:b2d08ebe-b2f7-41a3-8343-5cb0af0342e5 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:33fe3859-e05b-468c-86bc-5b84a8a176c6 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:cf2b5c55-c164-49f2-8d69-7f12a8694754 phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:b2af85ac-5815-43b9-b75f-219c7f51ee65 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:7a79c867-c4ad-4d34-89ef-8c7bd48adad1 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:1295328b-1046-4340-bbd4-0d75a8c2b1e3 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:fec42a5d-a298-4198-aef8-1f1ab6b25d49 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:212fc393-0f54-4fd5-b551-c7ad68d3e2b9 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:a190a50f-a9d6-47f1-8f82-2cb7c6c833d9 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:a8e71c7b-9418-46d3-a3ed-7ab458fd0670 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:df6f40e4-cdb5-4e61-afe6-b5ee461ca3e3 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:80f59823-2170-4b84-92f3-20948771d2a2 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5470a2e0-5047-4cdb-bcd2-585a8302a8d2 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:b8149cef-93ad-4ef2-876f-f73d9560c6a9 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:9b5d1008-d211-4f7f-bd33-e0b1ccb5400d phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:3861c999-131b-440a-aaa3-c42a42051362 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:38d7ee13-8462-434f-8e90-39f6c999d457 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:540fbb32-d734-4f31-bb72-0d315ff8b946 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:2acab901-2891-445a-9294-19042a6f2ccf phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:6c3c09c6-a208-4523-adeb-6777dd3ed4ed phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f61b3259-c8d8-45bb-97c6-c358a7db91d3 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1722b9d6-75ff-42d2-83e2-a6b3f29e5949 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:c0b0c1a9-6fb8-4012-99ae-5ce59d740782 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:8f6ce1fc-1b8d-4973-9c19-902700394a4e phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:811b02ec-fe42-44c2-acac-6dbf7471079e phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:b780bb7d-e409-41fc-8e1f-740371b351bc phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f73f04ea-e5a2-4659-b025-a34f893a5872 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:53567ea5-f8b2-4f14-ba23-422930a5a1d1 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:14c70c2d-650d-46ba-9c0b-0d37a40f58fc phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:577b6b83-aaa5-462b-b8c1-6b2edd26bc97 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:f944951a-fb66-4757-a127-0efb7f0a0ce1 phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:124ccebb-15c1-4c49-880c-c15faa844871 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:95d7d698-6e8a-4344-8937-498bea2ea7e4 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f473dfc4-bb35-43a7-b2f6-23d2df2ca95d phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c1647a40-7765-4f7e-940b-9dd0aed4e65f phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:fb9b39ee-43e9-400c-b1ec-72c7b4719e82 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8e3f3414-f025-4245-ae99-a417fc0bafbb phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:b2fdfd2e-a99f-4a33-b6c4-43bed9ab6c85 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:947ae3fe-7de1-4921-b081-7bd35bb8215d phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:51511160-2ed5-4fc4-903e-85ce231d0bed phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:221d23bf-360b-4d2d-9dd5-2a235c5accdd phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d1488e16-72a6-479b-9fd5-26602d28b255 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:5c750efe-5bec-4a3c-bc0e-652e2ba58779 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:67c0ed76-4fc8-404e-a7a7-d28e7892ff6f phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:6bff1538-4eb6-4e70-aef4-2297e27424ca phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:e14bfa78-0adb-4ee6-b881-d896a889fc87 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:27fe6f0c-58c1-4cb9-81eb-8215a4b1ebbe phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:c4bf2486-37a3-4b98-a03c-b31be784f9f7 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:038af202-4e24-44b7-9135-a5f451dc22e9 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:45618a0f-1e2f-4fb1-a0bc-450c7a739dc1 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:6ee2205c-0211-4012-8889-619e0774e01e phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:60f863c7-bb91-4a00-bd1f-7e428e20a8b3 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:afad5003-697a-478b-99f5-3980966bade7 phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:8ac535fa-711c-4d77-90c8-5bafcc5fc64e phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:33bab5d0-1e20-4dac-bb3e-6014b9d88a34 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:dbc9d14c-d506-4be0-99bc-8785086c2d43 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:cd829957-e2bd-4bcf-983e-9439437892e6 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:1fd28c7a-86b7-4aa9-8cd2-b1d1c320e028 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:9cda5291-c1dd-4c38-b2ad-8c1c32358c57 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:350f354e-fc87-4cf5-9d68-fd437ea0810c phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:3b815380-d7cc-4a32-a4e1-ac8d1494fbc8 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:d0eb95c6-d37f-4637-b23c-e894189893d5 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5d1defe8-c0e8-41a7-a7da-cf62d78fbe27 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:25774f20-c040-4eeb-8f14-126aa4be3759 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4fc99262-e02a-4e66-b24f-d8ef5375ea33 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:9a36ee80-e932-41f5-a2e8-85f2af2aa025 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8f62818b-bc16-4546-8663-26740db498cc phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:23b0e793-7ded-478e-bc80-da8a28bfa83b phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:80f719c8-dd46-4fee-b81a-80c279ce9c8c phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:cf04391d-171a-45f4-ac29-21e3e119f739 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f53400be-676a-4cfe-89fc-03177e6dff33 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:194fe583-d169-449a-90a4-d1f9b4121573 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d9782f4e-8abb-4c26-bf5b-d55ce887b137 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:be249124-4239-4819-b073-7fafa6d23c50 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:a3de7d4f-d012-476f-8b84-dbb67801ff59 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:3e523647-1739-48ff-8135-3c370da35cf9 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:c589b850-1c24-460c-a8cc-fc631695870a phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:08023fec-11c6-4aaa-8925-e6b4af35d1d2 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:a244a2f8-fa35-4fcd-a63a-3eebb82e4542 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:988b3b86-382a-4e66-a0e1-934c2dc58ed6 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:0a01b996-0929-48b5-9a04-6a1dce39bdf0 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:60d1314e-882a-4d01-b98b-646effa2ebd0 phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:74c03e8f-8da2-4ffe-b52c-72083377d9b9 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:8a6853b8-49c6-420f-bf05-531ef6f67a89 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:b7e87f35-4618-4acf-89a6-e01b36871fe7 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:6f3587ee-134b-4988-ae6c-9f7ac93d4a5b phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:522f3c73-0eaf-4fd8-9028-8d246b6ccda6 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5829063c-b41c-4c81-853d-d89d2b8e74d1 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:1b09a9be-cfb8-4e97-8031-2c6cdaf69eb7 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:2281ce6c-ceee-41c8-9dde-8409184cf20d phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c923b87c-7056-43f8-b79a-f46a52f0b51b phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:80f2b098-94c6-4c34-9887-29ecaa0a034c phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:235b67ec-ca25-4e5e-a93c-40ee57b85aae phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:600406d8-a54e-48bd-adab-d9da5ac9bee3 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4328f3d6-3fa0-4ab4-8130-7c480d97aa54 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c01347f3-5705-4b2c-b302-60cc2fc8dea9 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:b7d2e2ef-0a3c-4209-a785-f5f09f8ea81e phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:28ff34ae-c6f2-4f26-8d0b-2843d3c03382 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f2b13058-e7cd-48b8-a3b2-c91840b94507 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ac2f1d39-74a6-4201-88f1-b34ba855fef7 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:384b7628-27ae-44bd-afb7-830285b3604c phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:67af276d-8963-46d7-aa80-7db32c99ff94 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:7833b4a8-f1bc-4b5c-99c1-211a056507d2 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:d415e275-0b15-4ee5-97f5-b87fa1b2a1d1 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ad8c649e-3150-405d-a856-8614ea0c60d3 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f850e7de-3ec8-43ad-b272-1bd69bacc7ba phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9f2e1b4d-a50d-4ae8-a05a-15fab29e6bba phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:45d9cf3f-6e71-4ebc-bc33-7d81e507ab94 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:472d66ca-6acb-49d3-baab-60bf52b54453 phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:db6eabbd-ba95-400b-b2d6-16e1614fa3f2 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:6f1ab111-1fa4-4683-b3eb-0039b3707d53 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:3eb13188-c2ae-4774-b869-0824a60f4e17 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f8498135-72b0-403d-a103-2667689ba3cc phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:eceab55c-b402-4bca-9924-acb97aa90918 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:cd2d4801-4fa8-432a-9216-0ae4fbc65b75 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f4d4331d-40a0-4720-9e13-07315e04c10e phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:b1f41edb-abb9-4a9a-9359-9ed6fc074c8c phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:17a24ba6-d9cc-48ba-a9d0-2c17924405a8 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:3eff37b2-dc86-43ce-9512-9c0510d64b0c phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:7e676ec0-b2a6-42fb-b9eb-718625f40d5b phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:8b1d03c5-99fc-49cd-b01a-5530fce80f37 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:252d6b1b-774a-4270-b40c-bbdcb7c33e2b phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:c4fc6101-0211-45b0-b08d-af13c295a3be phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:76b40d92-fef5-4eeb-8c5b-b04d1ae55b3d phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:4cf824a5-8200-491d-822d-58c2f69ba980 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:2371e687-4d04-4eb7-a05d-a6ce9cb48d84 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ee77fdbf-1806-46eb-9994-0e1bddc23a6a phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:691ad6bc-2e2f-4d27-8223-066fb41ba910 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:c2247ce2-8d9b-4e74-b63c-dbb3b0dad401 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:82d3a76d-30ac-40a9-bceb-e2e68e4c6080 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f695307f-4af5-4be4-9785-9d2156fc2980 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:0a7f5ec5-99ef-4ffa-b3fd-eb74ff371902 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:06609131-817e-4574-90cd-a0320a312eed phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:be138df9-cb6a-4682-8972-8b1b7507aabc phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:aa5d1315-ea06-4aa9-9af5-c3a017e27914 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f8ec3ab2-42a6-4dd3-8307-fc560b9d51b3 phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:bf5a8015-b172-4c92-96eb-aeb72e5ea3ef phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:12c152bf-a225-41b5-8b30-acea91139e3c phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:e0feac7e-7dc5-4e74-80d8-cd272483750e phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:97374562-2d6e-4052-b4f6-be8829dc7b80 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:aeb9ffda-7199-49af-99e1-652766608efb phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:edfd9a0f-cf2b-4951-a279-cffb43adbd2e phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:47b56e20-b71b-441b-a5b8-e0fbc7f1748f phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f7840864-e228-434f-a33f-2714cee2a44c phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5710993a-2755-4d72-b567-b3cbabaa2e01 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:d76d5688-6024-4caf-9304-71c63fd1fd39 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:00f9abf3-ec79-4808-b4a3-4d552cf97850 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:4f7ea9ed-2cb9-4069-adbc-2054b0fb9fac phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:86b4115a-1b16-4695-8a34-5caaaa30871e phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c04aad19-c55d-44db-bd31-7a2aed3e838a phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:c9aca368-2681-474c-bc5f-1150680477aa phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:a6344f7f-33f5-46c0-9ec7-b931a1fa8039 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f5212529-0249-46fc-8735-cb475462dafd phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:8b619bcf-a7f8-474f-8018-892ccc23eba7 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:185e2d0c-419c-47ab-9c80-c9db882ad9f9 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:8aed96bf-e3b5-4b99-b1de-b0f792f2576d phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f3217f28-eca4-4965-8969-7a49184c5661 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:a89da7e1-9e16-4cef-8376-bb5735d6baef phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ea12e072-e447-4dcf-98d5-0aadf62517fe phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:75abed62-fcd1-4fc8-b433-df966af1d94c phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:ceb99ae4-32bc-465d-8c06-59d3c5d2b2aa phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:f29b0a2a-012e-4d67-bbfd-850fad81deb6 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:1441ac63-de3f-4cf6-9658-ba9870154057 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:405838d1-676c-405f-b0d7-ea2e7aea12ef phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:17f815a3-37bd-4b02-bf18-d839d59e26ba phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:6f146b9c-195c-4eab-86dc-8f97fa2b3885 phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:0e5de0bc-45c0-4dc4-a58f-94adb141283a phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:ee045cfc-dbc5-4a5b-9121-ac39cadf1d99 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:d7a3ecbf-4a43-460d-8eb2-4df6f59e75c7 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:82a4e071-2ffb-4cbc-b75c-ca65c5ceac0d phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:5ea1740f-a67c-4d96-b1e7-55b1e0c20531 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:dbb048b2-528c-4f47-bd9f-4b60e2d6474f phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:cccbff3d-8460-4b1f-8633-60aa3b408334 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:861b7adf-20ac-4bef-8d61-9894dd5dc311 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:759dc54e-43ae-4754-9865-cff770bd6922 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:505bd28a-25db-4577-b555-d070c00adb96 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:52d48a85-feb5-4122-abe3-118f217cde2a phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f8781e05-191a-4f5c-9979-9f4ad2bfe962 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26467218 uuid:f7d82d72-3cd9-4bcb-b4d7-49dbf30c209c phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:322379ab-7460-448e-8617-892b054342ab phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:9c40e9da-180d-47e6-be50-2056048b261c phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:93df5dde-a4a8-4be0-a9aa-d18f2176a7c2 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:eb8034ec-e6b4-4903-88e9-891df77162cc phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:232bdf59-8df8-4e7c-9438-67054327c4c8 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:dffe7122-9ffe-415d-8398-16311d87109a phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:beca1f83-3824-4615-bef1-2ad1e02d4eec phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:8d1b7476-bb74-48bc-be01-df5f15c27d38 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:3402fea6-c072-4d5f-b63c-5ef239ca5bfe phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:0ce7fc53-b483-4852-ae2c-cd705f519bba phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:a1018c68-dc4b-4e27-a66d-8553d75c5c14 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:302de93d-23ca-411b-83ae-84cee6f54346 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_phenotype HP:0012209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26467218 uuid:cc3627b4-b5fc-4a5c-af60-8649265bf8ba phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_disease OMIM:613224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:897a94bc-4c46-4e8c-a36f-1fbd5bdb7de6 phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:has_gene HGNC:7989 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26467218 uuid:b247143e-0898-4e36-8806-be16bb3ad972 phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28106895 uuid:acc7aa15-3ec7-4045-bf33-2853d1dba733 phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28106895 uuid:86636636-7307-49a4-af94-eaa5db7542ef phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28106895 uuid:14a9c83c-5250-4cbb-ac0c-da0a75b0c60f phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:has_phenotype HP:0001123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28106895 uuid:7e1f873b-cc7a-4e45-9587-d343fb38a170 phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:has_disease OMIM:613750 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28106895 uuid:d52304b5-35dc-4991-96f2-53b75fbd1c37 phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:has_gene HGNC:8002 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28106895 uuid:590ebbba-d630-4994-86ae-f18c1e12d537 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:6ca7836e-10d0-407c-a4af-f3ece9d545b9 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:9b70e6df-5ba6-49e6-b65a-983cd4d5a055 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:293951fe-49d8-4926-a6b9-abbb791c8cef phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:0e796c0e-405f-4b7e-b0d1-c352a4f51260 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:753873be-1ebf-4853-b765-67240c081d13 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:ea755148-7976-4102-a9e3-80b8705daf40 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:a4a2e399-df43-4b7c-8fe5-5ce7342f24f6 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:2f169fde-5dbf-404e-bf04-be11b181c793 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:fb8343d6-b0fb-4e5a-a7fc-fe5a22d06cbf phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:9db28165-02fb-48ba-8377-8b3e22385e9d phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:6e4489b3-b89f-49be-9ccd-9cd6489433a3 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:fa10d170-5586-45b1-8acc-9721a45e83f6 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:8cd9ab32-5bc0-43d4-b822-f7fb07e00bef phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:081f4ead-c87d-4e23-8075-c6d15a70ff88 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:56f24704-b7b9-4ad5-8a84-390ab9b5f0b0 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:da26841b-ef63-4206-8b74-431beaaa7b0e phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:d6a4d05d-921b-45b2-9cb8-8c5113d3f4c6 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:2eb086c5-14b0-4ae0-a7e3-614943e080a3 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:254dfbd2-5a10-4ff9-8b2a-c6969e251483 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:ecfa9496-05d1-47b3-9de1-a3eab50a6b85 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:f6f41d4f-dbb2-495f-abc2-a20c3590844d phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:ba2437a5-8180-49d4-a8c4-77c57c2b9600 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:5f68b471-4b29-480b-8306-27ac143db6b6 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:82b8f3b8-7e15-4780-9c90-47419420c0f3 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:3e97a30d-3c43-4d5b-a14e-1cb83c0cad4c phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:8e00c0e1-7543-4bfb-8a74-34468ce8e1db phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:28519b5b-4ecb-4c8b-a686-6fac24cdb690 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:6fd1afde-869d-4ef6-85f9-91a78dc31e20 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:6ae78033-6aaa-453f-b3c9-0c704904e28e phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:f47d43aa-97e9-4fe3-bde7-fa085a58eb21 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:085f2ca5-a46d-4261-a30c-9d111b78c3b5 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:263bcfab-13ee-43a7-a6d0-0f3636725410 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:e64187f7-18d0-4d5c-8d0c-55c06c732d16 phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:d689b125-e821-4d88-92be-bd4e5896841c phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:a92f22a2-4f44-46dc-bf4e-bd9371c062de phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:b3b409aa-f165-4158-ace9-571898a95917 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:3b67212c-aa96-4c8c-8444-7e7bf1ff4c4b phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:b145fef0-897b-4ce8-b951-8190b3b49c46 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:d64ed0c6-7228-41a1-ba31-0ca6efe199cb phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:c57f13a8-68ca-4d79-94b8-88942d677ce2 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:b1b14dee-973c-442f-93fd-ccf4aca83dc9 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:69bb0b9a-88be-4403-9a2f-df97eff2f421 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:83d7fca7-e617-4e92-bb24-200ca5351293 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:8e8d994f-8031-49bb-ab21-b78b181067d5 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:9e703e8a-dc0d-472f-98b6-588799a6ae35 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:4225d2a7-a55d-4d57-90d4-f9a1a120bdb2 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:01c9bce3-9144-41cc-bf78-4aaf4bd99752 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:f371a88a-4c57-4661-8bf5-8f6bccb48f80 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:a8627f50-25e0-4c72-a902-2dc39485f89e phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:df43da43-625d-4a5c-af48-f714a89942e5 phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:bcab1ac8-a33d-4443-afa8-054dcad8859d phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:c2361645-9828-42cf-aa14-e89fd8c3d76f phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:fb0fcbdd-b0fd-41d8-8042-b444d2bf1aa6 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:5c4c9df4-7075-404f-b073-0e7a77b09294 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:5e9c8656-fda0-495f-9c11-3d665a1ef655 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:dab41bbc-ab01-41e9-91b1-f7823f80cd60 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:97045e76-1c83-4b45-a173-1553f555f0de phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:81c85af9-bca1-4566-93bf-89d8bc706b65 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:9a7a99fa-b42f-47b9-acf9-83217dec48ff phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:36420349 uuid:cad14aef-1cd9-408e-a5b8-c67fbcbb6977 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36420349 uuid:3546f4bb-b0a1-4fe3-a37c-38ebd9be8a6e phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36420349 uuid:95197c8e-4dbc-4548-b41c-23fd022adab5 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:d6aa94cd-b754-413b-b015-8533e43ff34d phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:da28ab28-b8c9-4ff9-a831-4bc5f4370089 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:a7266af9-bb2b-4bd5-9fab-4104f58bb416 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:71076bae-d4b8-48bc-8426-1d6467b12d66 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:145ce2be-bae3-491b-b9a4-dd1f5d34c1f7 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:b360c340-9769-4c12-b5d4-a492f98107d8 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:95aaa78a-5e20-4ec1-a57c-403b7400e5ce phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:3fdc0cad-b2bd-4e57-bae1-353901892b17 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36420349 uuid:4d944aff-7b80-46de-ad7e-40bca8e67912 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36420349 uuid:37017ad2-211b-40b6-8613-fa3e12c0e848 phenopacket.store:NSUN2.PMID_36420349_patient biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36420349 uuid:a08a0d72-150c-4e27-8944-296f44a1079b phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:b0d10ac9-9335-42d8-ab10-d6f072dc6d9d phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:1c9f7d7b-fc04-44b0-a916-563dc3df4c2c phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:84ee60d2-81e6-43d2-963b-4fe6e012b3bd phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:27f90bce-fb21-4561-a596-e706fc225756 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:15dd5e86-09e0-44c0-afed-523afd9c9047 phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:33a80d71-4148-4bf6-8ed2-9f41a2ecd5de phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:e179bbdc-028e-445d-8d37-217495701b29 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:752a649a-4f1e-4e31-984e-7cce63f9890e phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:f5e890d3-0d09-4fb4-8e25-4196832aa77d phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:57179a5a-f4d2-4b7a-aedd-875b73fe9f88 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:87ed0328-4252-45a7-a835-98a096d406e0 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:43f880a0-cdc1-4e4c-af7e-3daca323c808 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:94ec5f27-4200-41f0-a5bc-b5d7fbfe4e5d phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:488d89f1-ab1c-4fe9-a7c4-36d1f443d8ac phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:0fe00079-b592-4633-b285-2eccdfc635c2 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:dc10fbab-615f-4b53-857b-4cdb9bbb5c3f phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:5755a96f-1bde-41eb-a072-74a35567bb54 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:c879843a-8e95-4bda-95d9-30123b9cf259 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541559 uuid:f8da127b-8528-4673-9f13-476dfd22f1e1 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:8fc9d742-f92d-49cc-88ee-2b3daf427587 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541559 uuid:67243fd6-fa97-4bbb-8a5a-573edd6f2576 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_disease OMIM:611091 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:5ffc7191-1946-4342-a660-c865bdc7eaf2 phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:has_gene HGNC:25994 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541559 uuid:e1217306-5789-442c-9545-60fd71c41c2e phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:dde0a265-597a-443f-a7d8-5e2b7e516aa8 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:cc92fb2b-a37d-4fd9-9c16-234754b44e87 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:01d9ee5a-e167-4bb1-8ab5-269878ce2ea2 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:25f8226a-091b-4e9a-a42b-ee27531900e3 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:07e8ce5e-a97e-4667-a732-2a956032b9ab phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:34c03a1d-5578-45c2-8537-a2a10bfa4839 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:650f007c-7809-41fe-8b76-650fd7f7d159 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:42499941-984c-4907-95c9-7de5b502e648 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:dd66f1fc-7cf4-434a-93f7-5508c23c4f3b phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:f0cb5d88-8483-40e6-a815-826a9cdde9fb phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:5f683d80-61a0-457c-83f0-308e9b43156e phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_disease OMIM:620779 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37226891 uuid:7deb79b7-fffc-4e61-b24e-d6105b97f093 phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:has_gene HGNC:23529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37226891 uuid:0e60e791-06e6-476c-828f-234b1b4c8795 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:7555d095-575e-403e-bd73-2bcaa11fcf12 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:ee688649-dd1f-491d-9d42-8344f47fa3b5 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:28755dd0-6fdc-4c05-b7a8-6008320e2aa0 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:07d4de82-1067-4624-b80c-a387f020916d phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:46ce2a37-8935-4efb-b4b3-c43e57a53a1e phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:15aa1849-8c44-4b75-938e-0a5fb3bca38d phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:3ecaab9b-ce83-4cc6-a98d-1fc4daa3a202 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:f9e95eff-9389-45c0-8e86-ba8822d7ff0f phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:54ad969d-62de-4cba-b506-533bc683d953 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:c7f56e8a-a0ad-456f-9835-a31a9cee255b phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:58f5c822-3bf2-4a3a-9b05-5fc760d9757d phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37226891 uuid:52e124ce-c7de-48f4-a7d2-da0efba6d300 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_disease OMIM:620779 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37226891 uuid:49141232-e0e4-440d-8552-1228436f3634 phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:has_gene HGNC:23529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37226891 uuid:0720ca83-e1c6-41e7-9ae9-79f549825c2b phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:0e6663a5-401b-4b06-9b9c-167bac39c488 phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:37226891 uuid:3aa64bea-48ae-4570-8d91-d847076bbab4 phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:7c4f0a25-a262-4d4b-b635-952abf82fe29 phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:0b207aef-2176-4b11-890a-3d901bbd486c phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:34046324-b6c1-4df8-9934-9b86b2845e7a phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:3f668920-6d01-4ccc-bd0f-6acc59646235 phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:389f46f4-0650-400d-b4b5-514f6ce2464b phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:e5668e1e-d341-4bcd-9217-502f07f91117 phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37226891 uuid:0d8e6b5b-33fe-4bf2-aa2b-b2553e04e3e8 phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_disease OMIM:620779 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37226891 uuid:61281f00-3bba-4cc7-8a14-1cbe490181ea phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:has_gene HGNC:23529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37226891 uuid:40940996-ac39-47ae-a2b6-f96370c154bc phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:82ffb438-f131-4c94-9b8a-7f3f6e95fc63 phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:60aaffe0-7168-4a52-9680-782f21ed45be phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:2ff79ec4-c4ee-443f-a3ad-48cc4c21374f phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:b1476a15-dbd9-40bd-9ba9-7a764b1e8dff phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:31626a4d-dea5-4381-aa57-11fc2192d5bb phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:28aa853c-7a0a-4569-a7c3-4bb96e86b15d phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:74cfbe1d-87d0-484a-879d-eb04a282bd5e phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:3e9f5efa-a33e-41d0-9665-f2d47350232c phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:26e68e3a-6de2-4278-a3d5-02f207877261 phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:c56feba4-bd80-480c-969a-578415a99999 phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:b5067c75-e0bb-478a-aa28-7c7c8995d397 phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:5d07eb12-6516-4015-a2a2-54507a946940 phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_disease OMIM:613162 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:28327087 uuid:14d43e4f-3dba-4daf-a8dd-54b5885aefb0 phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:has_gene HGNC:8022 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28327087 uuid:d8f72301-1d32-40e5-9a78-d1e2012c5bf7 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:b9574348-2913-4e98-a0a8-53f42aa725d4 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:cb57262c-f8c5-4faa-bfbc-69fd60a051c0 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28327087 uuid:8b9bbc32-3fcc-4c45-bf16-7a7d0fd45e4a phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28327087 uuid:6f2025fd-e574-44d4-a806-807ea45a1f7c phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28327087 uuid:ba784b9b-ac5d-4238-85ad-19b5d9a6f636 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28327087 uuid:2e7f6f1a-afc7-4896-ad92-4dad8f282c71 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:61d744bd-ebd2-41a1-a3ce-9ff7fbc35428 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:f6707ff4-4754-4391-b4a2-42aece6ca546 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:db1f2799-e98f-4c6e-8de1-4f8ad981dcd1 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:dc7a3ed3-e1f3-45db-8d9b-b83dd4f04f84 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28327087 uuid:a0d05109-904d-4af6-a687-532d72dbc940 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28327087 uuid:f3fdc635-d443-4d53-b1eb-a72a1577320e phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_disease OMIM:613162 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:28327087 uuid:6413b066-5357-4d50-bf7d-cff105d1aef2 phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:has_gene HGNC:8022 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28327087 uuid:ad0f6d52-6a90-40af-b629-c947066061b0 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:36333996 uuid:d2d26f4f-c68e-44f2-8a84-d4861a16e01c phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:6c315918-11a2-471f-a334-f82bfbff0041 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:3d0a885b-b715-4228-81c6-68798646c2b2 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:fef0f834-2cb7-4b71-b786-4ef0b2e64791 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:20ec25f7-b315-4218-a72e-81180d3dd80e phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:7996cd96-9b5f-42e1-be63-ec7354407f4d phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:8835d043-a90a-4620-a91c-702d9a44f539 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0031959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:13904615-2cb2-4fca-bbb4-984227e19785 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:859e4346-ab11-4d77-8f0b-529c8bb27374 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:8609e66b-bf2d-4d03-a356-2ecf1bb76144 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:9bad63f3-82ae-4fbe-8c23-fda421ad5273 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:71dce690-5825-434e-a7b2-beb81b0ed3f7 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:775e22e7-bf1c-4371-9986-ce3e1e2836d2 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_disease OMIM:620427 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:36333996 uuid:dc733f24-0836-4806-aafa-f360a09af4cd phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:has_gene HGNC:17359 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36333996 uuid:10c210fe-1f28-47f8-95f8-7ccc64015f72 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:36333996 uuid:5ccd13a2-68d0-4cba-aada-7d4b60fac5af phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:22422d48-ec0c-4ce2-a1f6-4c5d7aae6249 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:e6ab6de9-4f49-4e09-8809-5264e42ba266 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:7fb73e76-499d-42f8-9ca7-92f7f9bb7249 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:8dc726dc-bc56-427e-adf7-19e06de2f09a phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:b48622a9-1360-4c5d-8ccf-09cb193d8387 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:b1794897-9b87-4168-82ab-eb4ea0cf15ca phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:0c8aaa18-4623-482a-89d3-fa50eabeef67 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:5b64251f-9433-4f54-aa70-097e01ff1fb4 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0031959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:96e7eb71-3360-4ee3-9672-5a71b9bee881 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:9e0ec41e-4de8-49e4-b2f1-e0679fe5adff phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:4034d05a-c16d-486f-807d-11bfc3524dab phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:49f7497d-7315-4e82-a2c3-49fb34c1a1f3 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_disease OMIM:620427 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:36333996 uuid:64321314-3454-47b3-917a-56c08e9d5e0e phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:has_gene HGNC:17359 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36333996 uuid:22895490-561f-4355-b5bd-2ba846a964eb phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0031959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36333996 uuid:8d2e2cab-c1a6-4e82-8369-94fe46dbe3d5 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:df4219b5-fdb2-421e-80ac-003eacbcbea2 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:8e85fc42-7422-4269-9688-a02cdec57a02 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:e6825258-6913-4465-9fc3-ea14e2274c57 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:81991b07-1557-493b-8056-ac3682521ddf phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:311a0adf-822b-4e0a-9ee8-027b9db75b5d phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:77b941a6-b9c5-43d6-aeea-0dfab2488301 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:cc9d19a8-13fe-49c5-8f98-e539c55bd121 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:d8c41c62-7891-4250-8b87-d9ec4a14e5ef phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333996 uuid:26adb3f8-f3a1-47fe-83ba-7179371608a7 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0007325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:0ada1825-5966-4660-a17a-134a0ebf4865 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:7feffa9f-b10b-48dc-bc28-21f5ab6bb436 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:c4eddd78-23aa-4aa0-a277-04316e77e573 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333996 uuid:302cf604-3b42-492c-836b-7ab527534efe phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_disease OMIM:620427 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36333996 uuid:ccbad0e3-aba1-4b02-9bf0-e22eb6a6db24 phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:has_gene HGNC:17359 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36333996 uuid:c59e24f0-114f-42de-b61c-4a54a7d2e432 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:1b2c3118-ad5f-4fb9-998e-a289d709a82c phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:0e8abc2e-614b-4726-83a6-a26869d137c3 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:425441b6-9118-433a-a4f2-c72bf4af540c phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:02c453e9-e9f3-40ce-a383-64d530a207a5 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0001100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:28f8522a-b7e1-45e4-8e45-d8f8c5699870 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:7513e1fe-47d4-486b-8c03-91f4da39c7a9 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050284 uuid:438f28df-d949-4dfc-8439-813587b8c9f7 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_disease OMIM:203200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29050284 uuid:affa9c36-e28f-464a-a58a-834370d7f862 phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:has_gene HGNC:8101 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050284 uuid:4078a370-cb8c-43f6-a700-827f7392b0dd phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:5bc19c6e-01ea-4948-9565-a8b96304cd5b phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:a42df209-dfa9-461a-b60e-8f225e76ceff phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:d8c0a63d-00f8-4f74-ae63-1a011bfcef3e phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:cc040ef9-6736-477b-9fae-467f0f4f01fc phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:3ece6409-bd40-4d24-a131-6fcb174c058f phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:aadffc33-1029-4f92-843c-d3ed0afb5211 phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:3bf1fad0-d20a-4ee6-a3c8-3b594e716a44 phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:7b7b4ac4-bd34-4748-b758-b73618e8be44 phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:00181ebb-50c4-443d-bb0a-ab85122dd85c phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:7aed9ac1-eb9d-4298-9e96-b23d6dba065a phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:7d8da747-ddad-4bcc-b932-30323ca848d3 phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:18183082-356b-46b9-84ed-b4a7cfb7d089 phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:440f200c-a0e8-4a13-8916-8e6f89f2da56 phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:1aa6f433-1ce4-4326-9a65-4cc664aa87ac phenopacket.store:OFD1.PMID_19800048_III_9 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:3a7efd56-9ca1-4df8-ac16-dfd2528871e5 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:75ac545d-49bd-455c-9c48-4e68ea5e5711 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:ac9b2d21-0169-456f-a71a-d51086be0753 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:26e9050b-cbde-4d84-845c-7ef25cf6c19f phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:f52f597a-31f4-4f1f-b1e0-4f0495f73f92 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:2f0f392a-9795-4e9c-b28f-47b48441c34e phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:68787662-ced0-4f0f-a9af-19561ab10f12 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:cf142a49-b97b-4788-bd4d-7d09b9a6a9f7 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:903ee775-a6e7-4212-9548-63f91d805686 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:200dd050-5a65-469d-be9f-74a8338480ac phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:db9f8962-9136-4a49-a680-77cc94ad3063 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:ca8ebb28-f364-43a3-9107-e4c3123c8746 phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:1ed94e43-7c3a-4567-b521-c4e95d237f78 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:49c1392e-5cf7-47ed-bc34-41ad31a1c469 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:7b9322ba-00e9-4500-bff4-5bd64ec5a214 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:9e08a1d7-6c2b-48a4-a312-d9315e17c369 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:61ec8b82-d828-418c-aab8-a940df377094 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:48e2b4cb-e88f-4822-8c10-d33ee59bae08 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:45ca0032-4ef7-41ff-8c9d-3e6a77de8ba7 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:d1cef602-2ce5-4621-9b01-a29991b21354 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:d452fdfc-795a-432e-82ad-9624d7a3b7eb phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:52f71559-418f-47ec-a844-d1f3651ac386 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:fcf39d73-bc44-4b4f-85f1-0ce528c2d506 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:577f4dfd-2fba-4560-9169-47c59706afa2 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:39c9e564-e64c-46bf-816c-cdf4ed794ad4 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:e3977c5f-4edd-4051-ab84-2c77ef2b0c68 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:7a66624f-969c-4dfa-b602-4ae7e597a016 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:3b42f220-8abe-4931-8b3c-729f36d4de78 phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:2257f604-4363-45b8-800a-ec197e17a0bf phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:02ab92ff-2f46-4355-9169-8f415ce5a91e phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:3fab692e-0481-4333-8852-a104527d3191 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:cbcc6ef0-df83-4549-8c75-247200ecce78 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:d773c9f6-1e8b-42e5-8f8d-d7f145c9259c phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:7e95fce2-c531-4916-9978-1afd8fcec8da phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:4ed693e4-5fd2-4f77-ae1b-117f983a5d41 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:b332c40b-af00-4634-846e-707aecf91c6f phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:eb8b13ed-833e-4f6c-9aef-043e9e35e28f phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:fd81a6b9-1cf0-4814-bd9b-f48d1331df34 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:abff6a47-0782-4607-8ae2-1b75763a2e18 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:200709e0-e9e0-4a4e-ac42-2a2ce1dcec7e phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:62a4c4cc-84d4-4e56-8c46-02fe9f1e4a1e phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:fa9feeb3-564d-4fd5-a3bf-0009b4d0c562 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:8459ca39-3512-4a28-962b-b50ecd7e72ed phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:2b6c7314-a35b-49ab-885a-cdccd1185f6e phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27957444 uuid:60ae46ba-8d25-46e7-bce4-c0837edfafb5 phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27957444 uuid:58c92f49-bdd5-493e-badb-f3bd1de25dfa phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:4c853ac2-45d6-4ce6-b02e-c802055b2f97 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:9b382b7d-e8fc-4b08-8276-37e17e0841f0 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:9b4f3d2b-d3aa-474c-85f0-42991b624c9e phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:5b1c4093-6e7a-43d8-abf3-4f44a1a0eff9 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0006821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:fdfd0795-43d5-4730-ba52-63468460652c phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:c3aaca00-8a7e-42e2-a7d1-0566350fa8b5 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:689e833a-08e0-4409-87c2-ad8e133f1c99 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:364247d7-eff2-41e4-af0d-4f4bd6814b9b phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:0a64d90b-9ec5-43c3-a252-c7626f6e8288 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:12f61d32-9b5a-43a5-95bf-97f26fa96deb phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:1a9c77ce-ec06-494d-863f-b91537692dc2 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:75339262-1fc0-4d17-a888-4b8194be9ee8 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:60eba663-9fc3-4472-b2e3-22397cd9cd26 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:4d03a984-239c-408b-8e08-06ed93d0e1f3 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:7cd9a49e-f580-452b-b697-c9cb95d4067a phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:296b3616-03b6-4e26-8c82-b9c8b0644d0f phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:98e91aa6-1d2d-4a9e-957f-cd74903ca130 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:be49dea6-fd0f-4ae0-a0cf-2bad26356f6b phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:34c30668-0ee5-4d1f-bbee-a682c7415ed7 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:0e18f396-b1a1-493f-8e58-2d981afbec20 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:7dd4a0a1-7f14-46fd-b8ce-9d6ec690d193 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:8359bfa2-f8ef-4f2d-b242-d620c6c23f5a phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:fca17bca-814c-472b-a067-aa79bd6845fe phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:22353940 uuid:01fdc7fb-722a-43ec-b6ff-308a6fbe9429 phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22353940 uuid:5057972d-7dd2-40ee-b3f8-99efdb9b436c phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:a8042c61-0cb2-47fa-a150-51a793c1f64e phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:b9c507ab-033f-4f48-99ec-eb4a35a02e35 phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:15b07446-0eb1-495b-8788-133b02823e8d phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:3e763c3d-3987-4f08-9aed-979a21c8e7d3 phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:bdf705ab-6e45-4ee5-9ad9-f5d023f8b7a3 phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:ec5269c7-ac7b-4713-b3d1-5debd78e189c phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:079b8c82-458b-403e-8da1-410ae2f2c183 phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:41cf47ed-95a2-4bd5-8458-3ebfbf6ea5d4 phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:7b8e20e3-d443-459a-9c90-39725410201f phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0009381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:3e945c72-e346-454e-95cd-4c32873eacd8 phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:b923b86c-96af-42af-a94d-ce87d925f9cc phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:28377600-4da6-4d18-80ce-cf1e40f49fbe phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_disease OMIM:300209 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16783569 uuid:4a6c0813-c51b-421d-87ae-0d1dbd4f225f phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16783569 uuid:22810df1-8276-4b79-ab53-244b9fe08ce5 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:8246579e-369d-40ba-a3df-fe78c1677466 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:090c1f70-ea9a-405f-b868-baa3f2fb905c phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:b13c3170-07ea-49e2-87fe-131e8d145f1d phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:bf628f51-c841-4891-988d-377a1970180a phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:3eee4f0f-fea6-4c65-b8a0-82acc4e292db phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:f42f6cfd-121f-4713-9875-8f74cc605d2e phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:5faf5001-df21-4e18-a7ea-fd76a496409a phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:d9604fc0-4d07-4a92-b395-f71f3afcedf3 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:182ce38d-8f33-4276-aa5b-c1d598e79e7f phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:5a2c8b8f-dac5-4b9a-8d78-230a45c2b880 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:df4ccca3-993f-4e54-8c36-d7ad017cce1c phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:d28c5798-25aa-4526-9743-f4bf046ed7cc phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:26198c3c-e2f4-407a-b24b-a1be7b7f2926 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:7043d73b-b8f3-45f8-a72f-e73b21ef0ff2 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:7832c389-fbe4-4da2-9061-11aa8cd55576 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:919948be-2b63-48bd-9092-7d3dc654213e phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:2ff33d26-6a70-4d01-983e-80c41785959f phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:bb02252d-e3cb-48ea-8ac3-0b719b78bf2d phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:a102943c-9808-4cfb-a640-eda9461a0063 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:2e2a6128-69cc-440b-83ea-f544749a0f4f phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:ba9a9f35-bf91-44c6-990a-6bb2a1d12f4e phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:640c37ad-a5a1-4ccf-ab6b-54139e34fc79 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:6bf84942-8333-47d5-a761-251e3595c91c phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:e1baf8fd-d391-4679-a757-426bad560bf8 phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:779c6889-0246-4c53-9b42-df0086ca67e0 phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:b2cd5dea-5f01-44af-9402-d4d003c3b70d phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:0d341066-aa3d-4e18-b201-ca5e1d0f50dc phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:b1d074ca-af1c-481c-ab05-b1770d103309 phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:905b35a9-d64e-4a40-952d-e14fc8ef3185 phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:217871a1-4549-4a44-ad3c-c053b1bc517a phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:48b01272-589c-4589-b107-eff6ceaf213e phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:22e1b0e9-a408-4a44-b222-c6f06aae48e1 phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:3cbb5b5d-9b42-4c2f-9d7f-4fce149acb7c phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:22fc4f2e-ee98-4f32-9299-a4910e341e1a phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:2ec200cf-2256-414c-be29-82049914aac8 phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:311c2588-c7d9-4bc4-b857-c93c28aafd57 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:c0d9ebf1-2a0a-4c6e-9d61-51749fc9b7a4 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:d71e6135-b129-4fe2-bc75-42667a8045e6 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:5753171a-2c73-474c-a2b8-cbab87a98801 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:e8246c2d-b7cd-4c36-b782-a11c7d562a4b phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:61ec61f4-0fa3-4439-88ab-734b63a40153 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:85715470-c5f8-49b2-809c-18e956679521 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:bc970917-83a3-4185-b71c-0e874d223fba phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:19743822-4ca0-486c-a158-f9bdbdcdd837 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:33b2c036-40e5-4810-b904-749f8260593a phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:d80cf2f2-2296-4c6e-a362-47ecef747bce phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:cd3f896d-4727-4459-96ea-143fd5e90595 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:511bd3f4-0832-45ac-8510-0b0a0ad4f228 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:26eb2ce8-ea71-41ce-9270-a8141187b069 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:14dd9529-21a5-4121-9727-412cd9060f6a phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:7c1f4347-c0cd-427a-a8ba-3a98c97c3bab phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:e64eac17-ff3f-4f53-b633-85bd5a4b6d02 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:b4f1797a-3327-47a1-acc4-76ca2e98268d phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:dfdbad10-866f-4ca3-973f-3c5c29b16601 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:eaa354dd-c0bb-49f5-909b-d16d0e3a11d9 phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:ce4a9949-9844-4899-8ff8-8414d7f1fa02 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:565bdb26-3978-4586-a04e-b4f1ad2f4418 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:24e57704-54b1-4c3c-bcb4-13cd978f7189 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0009381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:fe0eed76-e265-45ef-ac0c-94aba59ed175 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:160ee2b6-7699-4fbf-a8e7-64cd2910102f phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:d431aa11-6f7b-4d54-abd8-d01fb3bad42b phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:72065a65-a1b7-43fb-9d55-2157d2575b0c phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:f8952b41-0d3a-4885-ae1b-2e111348708c phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:5cbf76b5-d65f-45fc-8024-8c83b6df2a23 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:3e6275ef-ed39-442d-8b8a-cad64d50a2a8 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:d2d7971a-4474-4424-9c8b-ba29a225c196 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:0d46b475-5350-498e-9653-17fd76d3fa0e phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_disease OMIM:300209 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16783569 uuid:439f0cf0-3a71-4963-832b-ba1139b82b84 phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16783569 uuid:ec3d94ae-f6a0-4f69-86e5-df8a52c1ff4c phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:22353940 uuid:4e01bafa-1c11-4a2a-b834-b163deacaa8a phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:ccc45fa7-0e31-436b-b84e-df7919499faf phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:ad7d2cbf-ed1f-4b56-a340-45003afef062 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:61789cae-504a-4f87-9d1f-221ecad3b58e phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:ac0b79a1-4303-483e-8dba-3375fb28428e phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:69f6d2c4-61c8-43bf-97d9-b81e9ec3eab6 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:7b577d61-446f-46bc-9edf-bd576662b009 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:febb939c-1e08-4a9f-953e-258527b72c25 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:78d1aa9e-5c84-4103-81dc-4f50cea0c963 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:8e686aac-fdaf-4725-85ba-4bffb46686d8 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:6e681678-735d-4967-8805-cc4efb8f23e8 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22353940 uuid:500a0983-7aed-43af-93d2-28defa6421c5 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:3fc67a6d-96cb-4085-a592-8d715922b7fb phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:f9b65436-19f0-452c-ad94-dd900f15d7e8 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:46f16ec3-04c0-47e6-928d-0bb34a2ad1b1 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0006821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:4568287e-35cf-4e09-bf3f-9ddede79f92a phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:2aaaa5bd-560c-4e57-934e-d990290a8681 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:41506624-901d-4de2-abbb-798eaa7134f3 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:16099b2e-2a21-4a9d-9589-efe87d2001a4 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:587ae1f1-b115-44ea-83a9-5b0787b663a4 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:968253ba-d856-41b2-b4d9-308a4ccf996a phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:bf1e5f6a-19d3-4678-a5eb-ebd144a04479 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:5c31eb42-059f-4498-b0fa-8d71ae532664 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22353940 uuid:9c9f05ff-cac3-4d06-bdd6-bdd1a79088ac phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22353940 uuid:c03edfe8-9b0c-4c94-905c-7c97ac71a452 phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22353940 uuid:36b0775c-5cdd-470b-83bb-ad4c83647470 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:108dcefb-1154-4621-8494-2d74e5eaf75e phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:38a91379-9054-4e71-9f78-e0efc11254c1 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:ec5eb829-8317-4441-a5f8-af271934a0aa phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:6a76f43f-53e8-4eb8-ba1b-014baa9b3685 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:ce0194ae-a99d-43f9-a07c-e939fbe0a315 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:0aa83c51-b549-4d6f-87c1-11b0e607bf90 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:3430e87c-4870-4827-92b1-38cc5a56cd19 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:fbebf4ca-37ae-403c-accc-f893b1d0ff12 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:7b1493da-16e5-4863-9d53-940d92225183 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:3be350e4-9d37-473f-bb5d-5d01c8c31d75 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:7bca4447-d544-42d2-87bd-1e34731e1c63 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:59f2556d-0f80-4fc5-ba2d-dd9a6b31d2fb phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:baae5377-cb7d-4623-877d-4ccec8466ba6 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:10fbcdf8-704a-434c-ac20-9bfcc1d7368f phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:edff22a8-5c79-4864-a44f-3b3a42299cb6 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:3fd56e2d-beef-40b8-9c53-4117531154c4 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:96e544b6-0c07-4746-8fe5-9386d0da58b0 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:c30fa6eb-ff7d-491b-850f-89dae5351f7b phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:592842fa-d9a2-4a2c-88f9-fec24f830a22 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:22a609d3-a8c6-4dd1-883f-46c69c691e58 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:f17ec0f3-b72a-4cd1-b46b-b322ada24b42 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:4fa7396a-ff72-409f-a59b-3c9530c1b359 phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:5cf9a5af-c10f-4d39-a320-301a5575ad3b phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:11950863 uuid:1295f612-d1a2-40dc-b1f1-995e5e1336db phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:71563ca6-dde4-4c78-9b0a-7bed1a5c43f0 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:f211ef32-de73-4a9a-82cb-e6526ebbb03c phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:d4bfcccf-7517-457d-9d78-329298fefea3 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:5c604d7d-f65a-41b6-83ae-c9c8202eea07 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:7676f61b-c68d-4502-9a20-4eeb20225ecb phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:98a0689c-7288-4728-afee-cd7a05a2f1b7 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:10c57816-e83b-4f5b-9732-24cf78a72727 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:fa990590-706a-4eb3-9e5d-7c33277482d7 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:ea13c0e3-0be3-4693-b0ec-da9a86b5759f phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:8f8750d6-46d5-4312-ad55-324e137d04b0 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:62774b5f-a5cc-4c56-b4af-8c4580c1317d phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:670c292b-bc0b-4ca4-924c-b321734e35a1 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:91ce2ed2-4940-4d12-a9a7-3d0ca56f5c70 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:bf11094a-d7ef-465c-b1a7-8f05f68c07e1 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:0f781d1d-74b2-4354-89da-42ced92f9707 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:3d912995-f844-45eb-8c4e-ec26c7c45d6f phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:0a8acef5-679f-488f-9fa2-e2f7d1bbdd43 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:47924495-69a2-4251-bc98-1c83304dcf8e phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:92059f6f-7e0e-4519-9a48-aaed497e9363 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:9ffd0f0b-7d17-49cc-8e08-9687f34b4fb6 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:7b9ce645-b9e8-439d-b965-264170e74e0f phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:d6c59298-33ba-47fe-84a6-7bd56ffa3db4 phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:bf1425dc-e80e-44a5-8d6c-b620e3a61796 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:9284cacc-1d41-4a81-971d-97cca2131334 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:8b049350-ee87-4e01-8041-4d38d0537b93 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:a90c4104-eb0d-45af-a4bd-720bff24e190 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:78adc3e0-531e-4622-94a6-f382115d028f phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:8124542f-cb21-40ec-987b-d6a64880c50f phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:f88e6621-e07b-4f21-97ca-5b48ae7f09c8 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:38258cc6-9e2c-4857-bc56-d73f96aacead phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:1ffb8758-01f3-4e6e-9875-cceb80c1b128 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0009381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:b5c5f90d-6ad7-495c-85cd-b6b51348e9dd phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16783569 uuid:0dd0ebd6-8c2b-4ab6-8e96-d79533b8e428 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:b664eae7-584d-43ee-92f1-ee466c2b189e phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:6b2b3764-fe69-4c51-a36e-8406b17e6b7e phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16783569 uuid:e379a495-ba2e-41cb-bc30-349b111979fa phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_disease OMIM:300209 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16783569 uuid:dd09384c-9547-4bce-92c9-541573f19044 phenopacket.store:OFD1.PMID_16783569_V_1 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16783569 uuid:67fb880d-fe7c-49be-b868-e551494d2cd1 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:6c7eae4f-7b64-4c40-a690-012673256767 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:f5b087a7-38b4-4c2b-9b97-7d9985dde713 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:f83b43dc-d55b-4b91-a233-bc9db89eaff5 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:b98c7b6d-7b95-40c0-9d68-d7ee32f7f6d2 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:26a1d63f-056c-43ab-acde-097cb769b981 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:3a13c52e-ec0b-4628-b42e-b7967950c501 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:51f31e15-a581-4586-85b8-e7e222744c60 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:1aaa4885-da04-45eb-8640-8087ea29a04b phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:ac635971-5b0b-4f53-ae09-1c6646fe0720 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:935b7503-9a97-4e8c-8779-e98c8422e259 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:c7491019-120e-48cf-b777-dbbcddf18372 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:566a0a08-b87a-45b2-98d7-ff6990800b5b phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:5cddd3c6-b1a1-4977-a9a3-fdf5f8075915 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:bd1c776d-f299-481e-92a9-6022cc46241a phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:b26a25d4-d8ba-4c10-8a95-5bbf89ed387a phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:017e420e-c64b-4c70-b05a-ed37d95f13bd phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:1d21f40b-8886-4231-90b1-d6c5c05f1999 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:0c1e863c-73d7-4a02-b76b-4a02b27862d2 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:d1f89fb7-0175-4b1c-812c-9d344c802e4f phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:bf95405a-db11-436f-bb9b-60eb4d4a2078 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:999b0014-bb6a-4d83-aa24-b6c6ec35b14b phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:aa72b6b1-ff5f-434f-8c1e-79e162bf6f9c phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:fb5e3d74-2599-4252-82ca-3ec891c110bf phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:e6872f4c-cfc5-41e9-a676-0c57ba8fdf40 phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:d728b82c-41cd-4dae-bfc4-23f991d36984 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:a0134462-bc74-4b47-b567-97c7994bf0d3 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:8e512c0a-88b5-43f2-ae50-f07cd7e8670e phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:5d55925e-260d-488e-8be7-649a7fcf0f9f phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:4e461f04-2d44-4105-a2bc-beb6f274b712 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:e5b3be33-9bd1-4401-b6fe-75948940680c phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:a33410ba-5ded-40eb-a3e1-953d33cfb117 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:87bac9ce-ad51-44e1-9262-1deab741d6c8 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:92fdb3ff-c9f7-4f7c-a1a2-877ff234ba09 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:60f49392-c1e5-4c71-a8c2-2746aef95d11 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:fb63f5e1-bbc7-4ab3-bfae-fc36851ac479 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:5cafe1f1-1ebf-4d9b-908c-3f0cb5e18a6c phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:65f52736-8c28-4b7e-a08d-2d9c589cf6cb phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27957444 uuid:95995dae-caab-40f7-9633-29a211aa315a phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:f79fb278-0c41-4151-851f-e31d06a61a77 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:ee632fc5-7efc-4a15-95d6-67ccf1225fac phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:bcc6fdf0-6f22-421f-b3ed-92670d23fe52 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27957444 uuid:ca28bdef-c75a-4d79-a115-e2c6315d88e5 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27957444 uuid:a90d3224-29f2-4f2c-98f6-00e8de8c9ab8 phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27957444 uuid:7ef6c467-af03-4396-94b5-e1cd8a58ad70 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:ee7b3c2b-aa19-4ee9-a49a-fcad98585776 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:696c3eed-3a51-4c0a-a6a6-8dddc6c4c4cd phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:7c00ecc4-1bfd-4f6e-9240-9a0f5b290376 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:7d9e9abc-e853-4591-be64-cfb4174566ff phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:d1bf3be6-6d1a-475c-bb75-c1d1cfda440f phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:309437ec-79b2-4ab5-ad35-80990efb9fd4 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:fb8e4422-291d-43ae-9625-3733f71af701 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:37f2eaba-6ea4-4a62-b9a7-ba8d0fae3eab phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:dce05b12-e89d-4ff9-b771-81b7a397eac4 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:9388a5ac-08c7-4b65-9c9f-267c68c4a3c9 phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:95ec4d7b-fc31-42e5-965c-47a8c127c65f phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:67782b9c-1a6f-4551-a43d-bc087324de25 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:d29ee23a-26cd-4a3b-be25-c113317f7362 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:8d30186a-0021-4317-a176-c4a79aba02f9 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:2bcfdcba-0017-4f8a-ad92-9b10ce250e70 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:8b0dfa18-e9bd-41d1-a629-91b721c75377 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:2f0a102a-94e8-490f-bc7d-06bb49ed1289 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:fa68c72a-5e69-42db-88e4-e11f7a3855a7 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:d669270e-1484-4bf9-9ff9-76f8bda40ec3 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:be65898e-369d-44b0-a252-41a7ea3e797c phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:59540d29-3d29-4bae-8159-ef0bd6467b68 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:315510e2-ea23-48e7-a9c9-81578b9d9ae8 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:4d05d19a-adbe-4543-bd49-99669b4e9846 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:2b60ee4b-78c9-4aec-931a-715d780b16a0 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:4cc13ba6-4ebf-4b30-bffa-e1e3e441bac1 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:ebbc749c-eb86-4773-8a91-111b314e01cd phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:f9e87545-afd9-49e1-8752-145ad392b343 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:681bc30e-cedf-4d9e-b544-0cc7e1a73e79 phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:b1f322bb-3013-4d76-8d66-0f6a40f61258 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:83d58541-c4cd-4d96-b97e-55d95fc42a9e phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:97aeae08-39ff-4154-9ca2-9fb5a3f7d134 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:99574246-fda2-455b-ba80-7a6d542e8a43 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:51f7837b-9ef2-4b22-8f1b-3777a50cc8ae phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:630640a8-bd62-47ea-bfc2-3d325bb1485b phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:0f2a21df-647c-4e7c-a960-9213ad651029 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:19ba605b-ca39-44a4-8b8f-c7fcc9820f51 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:34e4c088-0ce7-4cf4-9abd-5589838a1f02 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:63de569d-3bbf-46d3-b5fd-b83a23fc15f8 phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:7961a4cc-c7ce-439a-9f98-5a722ee83e8f phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:f55ec159-a40a-4fc9-a9d2-bf8a2fdf5f8b phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:66f83716-b70d-4b3c-8511-980c8468f431 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:1cad0822-1134-4f79-9c6a-fba5790d988c phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:139f121f-d027-44a0-87b9-d425abeab5a8 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:ab51c02d-e6ca-40cd-bb77-3715611f0e24 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:6bb2e22c-18c5-462a-93a1-a599e9b12ed6 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:9f1260bf-9838-49a3-b3e2-fa870014e011 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:8f63aeca-f6a3-438c-bc5f-e7e33e3192a1 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:f4881a14-5a32-4a5b-80da-82ede626d756 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:10e821c6-9116-4671-b9d5-f8213e2c8524 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:4df22bef-4b9f-42c5-b0a4-a9fcb4a62e81 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:591f0c80-18a8-4255-bc56-2796b23ad29f phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:7e4221a5-ea30-4e21-b038-ba9f04320650 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:05474eae-a457-445a-b3d6-8c104120182c phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:77d97a0a-a743-4d3c-93e9-7139954c97e9 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:5b71b502-8bdc-46db-99f6-81eebe1bd853 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:35d25e3d-32bf-404f-b43c-5cf8f1fbe23c phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:1249efe0-fe21-44fa-8a2a-6a9d58b24e63 phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:bccaecab-6d08-4542-9981-aeaea95a8017 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:4f263145-8d4d-4a70-870d-8e4500579970 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:9926ea44-2408-4a81-9872-01c181fa282a phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:32b771cf-a691-43da-b244-474e21dfc12a phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:eb514ca0-f36e-4a5a-b83b-dba94a0cff37 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:1566a3bd-72b6-424b-8f64-062e04415e6f phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:b1daaa44-461d-494c-990d-f09c33ed0037 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:f5f08223-8089-493c-8196-73d3e6c4ca84 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:3fe8e2da-1c48-4fd4-b647-5d4979753251 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:537cbd60-421e-4b9a-b368-66c20befbf82 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:864c6482-1fba-4cbc-8299-c10d1a98243b phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:8b8ce7a4-e5ce-4f58-bde1-3369d01d019e phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:a78b6f92-bc4d-43aa-b94d-57999e7a78be phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:635a6839-9d59-4b2b-a5e4-b4d48bd2ee4a phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:9635aa48-87de-4cd4-9583-33f331777fe4 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:c8af8cae-8ea5-4777-b0bc-17a6e421fa1b phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:fd3c13e5-cf3e-40ca-851e-0ff200cead21 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:e68d2044-9284-45f9-b845-01dfbbc6c93c phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:a4811d17-c806-4561-b3a7-3a8bd54f448a phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:3f12a363-8c36-474f-805a-de54803e0af4 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:1f4cf245-97e8-4a4c-9c09-9534c7ce33be phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:45037807-a226-44f8-955b-a2814e172086 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:64e047dd-1042-4b80-b60c-5165765628e2 phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:eaefba11-fa26-46db-a0aa-5b5ec70415bd phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:d796f002-d26a-48e9-afa1-f5629f9360db phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:5f70f841-656c-4bcc-8ff0-fa4e98d8f29a phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:8a6af3a2-0dd3-4b5f-93c7-84597a1ffa8a phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:82738fc4-d402-4b93-92ca-ffcc0161fdcd phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:e4cc9c76-ed7c-46de-b679-a4cfe63fd8d7 phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:71841f7e-e57c-49e1-9141-46081211936b phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:86026b24-e07f-432a-b3e3-ff7cb725ec6a phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:f9bf2241-9e8e-462e-925e-6fbadc15663f phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:817ff60b-b494-434d-b83c-79171698d579 phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:b5957ea5-54c7-4c44-932d-e56ad310d8f5 phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:2bca5340-a4d2-4f19-a08b-aa36df4b218c phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:1db038b0-0c68-4d42-a4b7-f19e3fe1589c phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:e33ec664-c2ed-47f6-b8ed-ffdc80a222de phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:5e8b0f7a-247b-46e9-8e65-88aa4ecb2163 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:b03653f2-ab0d-43cd-89b9-895e4fdb3bee phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:2bafdcc7-8f78-430f-a19e-d13f68587b38 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:e47be6b7-eafa-4d07-8214-50bf873cc6f1 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:02a7d0ea-7427-43d2-8c0d-f611b020fd20 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:c9a80d96-bceb-45a1-a03a-52c0d6f3d078 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:6af36869-53ed-480b-bdb0-d633e9f7896a phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:8e57569f-c24a-4347-870c-f501ab15687b phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:8d4a2d9b-6861-489a-80ec-d96f31e37baf phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:9c07e579-878f-4794-af7e-8a43781fa0cb phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:d8b4cf85-ba99-435d-b043-78d6e5a34506 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:ab959bcf-cb7a-42df-b106-6d4ddcd63719 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:a3c1bc41-82c4-4977-a043-6eddbeb9c80e phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:733064a7-c1c9-4e6a-a2e7-46627a3f898e phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:561af618-d3db-448b-a023-7514bf13819d phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:a38e0d57-0d74-4597-a090-c0be5e191505 phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:fab512a5-0594-4c1b-b8e4-ddbe1e71cdae phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:cbca4fdc-99c1-4a4c-9353-93434d4f5f4a phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:afade746-e93c-4fc9-8731-d6ac03b00592 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:551c0fb2-c0f9-40ab-8a83-bd78223cb7c4 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:93841c44-f95e-48ca-94bf-5b01f1390df9 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:19f9b00d-5743-4be3-b624-6859d08bb56e phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:8934812a-1238-4916-9f8f-7a32589f455c phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:6b557ae2-c957-4a00-b696-87f967e4f6a0 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:15792265-992a-4db9-a5d2-07f0ab01264d phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:7483d289-7317-4c19-98f6-f345c174bbb9 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:b78926fa-e611-40d5-92ce-98c81bcdfa64 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:6844ecdb-62e1-48c4-94ed-aacecad9cf1a phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:5d285c42-2753-4a6c-bfc7-79bef527cf37 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:c1b693b6-86cd-4dab-8c9e-f6ae5f1b59d9 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:d971410f-2871-4ee1-b77a-e08d721baf12 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:5660f954-679c-4946-9064-ed5c56cbda45 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:8504971e-18b8-4a62-a567-7e78a943b025 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:920a9117-329b-47ac-bbe5-9f659a9eaac2 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:4d428c01-50b4-404d-bb45-a7c86508cfe2 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:dec25d6f-b539-448d-8861-ea139ba6f9b7 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:64b14cce-0e2e-4da2-8e84-514dccd59b29 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:d5643606-e64c-4a76-8aa2-e6a0cc038316 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:96d63d01-03fa-4870-b6b0-77ace6ce9494 phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:485ec251-5005-40cd-b5c4-e5402be269bc phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:183ca731-60bb-4b39-ac66-242b62b920f4 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:9bef5f22-4683-4ba9-afbf-9521b65bbb16 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:c6da0851-0990-45fd-a86f-d73f879fba59 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:3118905a-c7b5-4b8a-990e-0efb192de45c phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:d168fb67-c888-4bb3-876a-cbadbd336b9d phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:9663e403-2755-4a7f-b0ee-e847dc43befc phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:07367429-5e72-46b6-a111-dd145df800d9 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:5a32c645-7a90-4a05-8a49-9f977f8a5b65 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:a3340278-edd4-45c8-a6b9-dca2f4667dc1 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:c7b72c22-a24c-4c2f-9715-46af6739c495 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:28500897-7067-4cdd-bd8e-8d6520a10127 phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:75ce5a95-648a-468e-973e-aee96ec986d8 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:3d6b20f5-92c3-487c-a052-792cab5524ae phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:09bd51f1-0e52-40ba-b01b-82f3feeffc79 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:c87752ba-119c-425d-9269-12dd99a317e1 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:b2e017be-7baa-4e54-a01e-1cf2b5b94cec phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:69755a8a-1213-4ae5-b32e-6db5fd97b05c phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:9150cf7a-9cc8-4f33-9b76-9a54c21f37c7 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:170bae3f-7523-4dcf-a2fa-3f278a6a0319 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:4340ab5b-6260-4029-8c47-ee6506ea0964 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11950863 uuid:e9dca41a-337f-495b-bf49-ba94561b5f3a phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:9f32e55e-8ec4-4b38-afc6-c33ded7c7fee phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:9836a2a2-0525-4e87-99d4-aeeb56753916 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0009084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:a42dede6-fa6c-428b-86a5-ecbf0f454f07 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:31cf6c4f-0bc6-482f-ad2a-bd122971918f phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:a2d967e3-ea2b-407e-95cc-77397086134d phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:78082c88-9f8c-429a-9a51-0ad509146e16 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:7b59144e-b26f-4ac2-baf8-104382d59511 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:860a4cb3-8f02-4e78-b9f3-d4ff7c38be34 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:9b59497b-ce66-4e84-b8d2-93b0fa112596 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:7f3c8185-f456-4a86-8ebf-de1eaed93dd1 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11950863 uuid:01033524-b5ce-495e-be1a-5211d1d586f8 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:1dfc48b2-2045-45aa-a025-5174763d53d2 phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11950863 uuid:7ddca982-50d0-46a4-9e89-1c6f269b35a4 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32677760 uuid:adb65540-d406-4869-bc63-f4053658fc88 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32677760 uuid:9aeaf5f4-cc1a-4c5d-9778-61b5c004e5f6 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32677760 uuid:b1b0765a-e69c-4f8e-b0f4-ac437b8de00c phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0010705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32677760 uuid:9cd67d1b-e87b-4480-8e39-3d50ad6f3520 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32677760 uuid:20d46f6d-8748-4c56-95e9-d5a30e0f8b02 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0001317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32677760 uuid:109a9bec-ff23-46ac-b8fe-f5ba6e43b182 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32677760 uuid:3d0ebd74-8f85-4337-a21b-8361adb545df phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32677760 uuid:3f6ef077-5449-4815-bd56-976ff5db2c06 phenopacket.store:OFD1.PMID_32677760_case_report biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32677760 uuid:9f81862c-7bb4-4e37-832b-ac5ae68da20d phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:0e6a947e-dd28-4d00-b347-ee7cef7e698f phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:d252ea7a-e910-4d19-b274-9e249d7a8015 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:e0077a68-ff59-4b68-949e-544e0fec6e1e phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:2dd11710-3887-4541-b281-a9cad8c59b96 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:203047f5-e1f3-4e62-8d6d-a56c67f675be phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:19d47406-358c-4d59-9096-6d0422dca5a5 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:64e81ab2-5bcf-439a-8be9-d675822b8709 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:9625e74e-1bd8-4111-991a-a742b43a05d0 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:830b710d-269f-4bf2-8b85-4f6317ac030a phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:abc28fe0-ef68-4211-9427-c4552dbb28df phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:b6cb7a9c-04a9-49ba-b00a-64b378ac2a5e phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:9d6db10d-a297-409c-9401-a6ee2c180832 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:db11eae1-5c1e-4303-9380-a1a0d5caeb82 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:25080273-88d2-4156-bb40-7ac23e4ef596 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:67e80bd7-ae26-41c7-9ab0-a00ac77f5016 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:1a89b374-7b6c-480f-937d-224ec21a1e38 phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:46e19510-3a64-48b4-b1f3-86160b2652e8 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:7a3e89d9-ba43-455b-bae9-b9b77c42a464 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:12948804-bb4a-4795-b1d1-32828ac9343c phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:9e271ed2-585d-4f2e-a4af-9623673a3165 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:ef39be13-9c45-4a5c-a04c-4128f1f7a536 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:153b3a4e-c0c0-4402-8037-89ea59b17156 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0002419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:b90731a3-e6ff-4c5f-8588-e9f00ee0dada phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:8115b4da-2437-4876-b82b-dca5b2cd8862 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:f0bb4512-8170-48bb-b85c-f65157f30406 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:962f68ea-487b-4460-afc2-3f3c6279345b phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:1cf61c4e-911d-4216-89c6-062f1d088897 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:801138eb-6bd3-4c2f-80ff-4b0ae7b3b7dd phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:0afe12fc-b59c-41ed-878c-b1cb615bc95e phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:56d645c7-67b1-4f3e-acc0-f2f150ea9b56 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:7661fcf2-6e49-42e2-aaec-49e5ebb7541c phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:7ed3ef22-9d09-4865-8ac3-548d07f5277d phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:b3b5d005-0199-479d-b16d-d16568548130 phenopacket.store:OFD1.PMID_19800048_UW87 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:1511f1ec-0e8d-4807-9cf2-58de0561deca phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:20c01fc2-234e-45fc-a17a-469b6701b6a7 phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:744692ee-66ef-4556-9779-a4dfb940c04f phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19800048 uuid:1f4fecf6-2bdc-48c1-a7b9-c821d89c78ed phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:a74b5011-e15b-4e48-ad2e-13416bfcc1ec phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:3b848dba-0260-4c51-bf4a-c60880d00810 phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:da8a5b97-f34f-4043-9e86-7aeb6a2f3925 phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:12097adc-5f9d-4e7f-92a3-75bd17726427 phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:ac6cc323-43ec-4cf3-bbeb-8b666317c398 phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19800048 uuid:92c08dd1-7b1c-4ab9-8c9c-8db96eff1dff phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_disease OMIM:300804 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:431fab9b-26f6-4def-8ff9-3af4840d4eb3 phenopacket.store:OFD1.PMID_19800048_III_10 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19800048 uuid:029db3be-3ac9-49d8-99c0-b1e4ffce91b0 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:3372b13d-e02c-4702-b102-a8478aae90fd phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:d4a0762a-118f-4ed1-a102-1bccd8d2e183 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:1d59d014-f2d0-4d54-a1eb-8fabacf1b65f phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:c72053f1-5c63-44d9-a445-99139ce1f8d0 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:fbb2326c-0a98-4a4e-a236-7ef8bc30c918 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:ba81714c-09db-498d-bc47-904fb54bb666 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:3c41708d-b87a-4e84-8bc7-9ef2c65824cc phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:66456439-e4b9-46d1-8d48-554955a65238 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:8fbf50b6-4c34-424c-8909-3653d9087a5a phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11179005 uuid:52e11122-12d7-4a52-a6b3-b450e29e4828 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:b0e98a41-6029-4663-b87f-a5e3ca4a4723 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:82644ffc-7f2b-4bb9-90da-288737a7fe6a phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:d48f607c-6d34-471a-a293-ee25297fa5ad phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:17216f4f-fb32-4879-810b-4e6c3993fa0d phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:fa297cf7-9600-4aaa-83a8-88e3f53346ef phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:464b254a-3431-4f2e-9aee-b26aa0c06a2c phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:c56b3c5d-918a-4559-a31c-c6f5cd5338d3 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:e533202c-8af3-4451-a376-7e0fe0e1ed2b phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_phenotype HP:0011802 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11179005 uuid:5f2af256-d6de-4a4c-adb6-bb63c85e1aaa phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_disease OMIM:311200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:fb47364c-14cc-4f5e-99dc-0295d0db9ec6 phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:has_gene HGNC:2567 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11179005 uuid:db7af989-aada-4451-ae96-b6114328e870 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:30364145 uuid:748fe01a-44c5-4ee8-b238-6fb2e7bda160 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:22134d92-22cf-408a-8c2a-4b63376a926a phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:f5d27094-a753-4e0c-984b-c5489a15e917 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:d80e5fd9-79d9-489f-8969-2aba9ac5451c phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:3396b9f7-3568-42f0-bca6-e07304896711 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:1b96f2d8-3016-44a6-9523-4a2b03fc63fc phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:30364145 uuid:1eaefd0a-d661-40d8-af85-6bc85d90d10d phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:8935b32b-689d-4af7-8560-cde50c56763a phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:56285a9f-e7bf-4f72-92a1-ce9c32410149 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:5b54ce36-60c3-4305-9ff6-3ffb60c0a3d9 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:52fbc96a-fb98-468f-be8e-31c150c28abf phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:ad2ab0c1-dd71-4f42-8613-212663e04dcb phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:32732bf4-2ccc-4cae-831b-6c03f7ae43fd phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:0ce900e9-e374-4e18-a0a7-d755785b847c phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:0d5a79a5-86af-471b-9893-a3f184fd2ea1 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:2a5aa786-a6c8-401f-8e2c-210c56ba9d6d phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:c18a78b6-3b8f-42fd-84e3-18d268f4bf90 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:1c7d7d18-7cdf-417f-b137-74c2ee7af2ce phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:fba51c08-984a-4ab1-b03d-75a5e73fa1ad phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:cf321c76-e6c2-4f60-955c-20c7ef94b736 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30364145 uuid:55386288-30e0-490d-b67b-8c8f9a15024b phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30364145 uuid:4c911fb4-2e7f-4fb8-8957-cc777c36e3ed phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30364145 uuid:4e98cd36-409c-47f1-9783-84abd7334e1c phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30364145 uuid:f640d08b-bfac-4a84-b8fc-6e0182db5d45 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30364145 uuid:80bc8734-14a9-4c1a-99ee-4b95a192511b phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30364145 uuid:ac0c5a89-7472-4d51-905d-cb9a925db0f2 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_disease OMIM:617452 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30364145 uuid:e677c561-c152-402c-80f1-50a4212f75b0 phenopacket.store:OTUD6B.PMID_30364145_proband biolink:has_gene HGNC:24281 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30364145 uuid:3c3a2448-a485-48d7-a07f-a88f75c7dac1 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31997314 uuid:78b14055-8a2e-4533-8e7e-a5dded18e3bf phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:31997314 uuid:bcf92c4a-043d-4712-95eb-e58afe5ba480 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:31997314 uuid:b0063c83-0789-4196-be05-f9438d3ddc68 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:31997314 uuid:f2ea6a5a-0df9-4d2d-97c7-7b54edb8c877 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:d399f8d7-75eb-46aa-8cf8-fa4531804c96 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:24bed9e0-bbfa-4fb4-98ce-b0f921badf32 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0012704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:5554b46b-507d-40e7-88e5-346b0c105cb2 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:47dd2835-3a85-456b-a62b-0d4e574a1444 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:346158c4-20c2-4a60-ae18-287841a69709 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:16d3dd46-7b64-4efd-85bd-5252a4bd6912 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31997314 uuid:471ab867-16c3-4108-a452-b8543aabcf88 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31997314 uuid:da3e2f0e-7371-48e0-9b55-190574a5a89d phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0032724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31997314 uuid:4b732f79-f6cb-44ba-b742-9d0e0ded2512 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31997314 uuid:2841b79b-2d6f-4895-9a6a-a56ba831b05a phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31997314 uuid:7556a80f-0bf8-407d-b842-6e8cd5b7b02a phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31997314 uuid:9c98d910-193c-4b9d-a61e-b91fb0f58b24 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31997314 uuid:dda8edc9-5941-4771-ba5b-62514e6f8e99 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_disease OMIM:620790 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:31997314 uuid:ff2db83d-023e-412a-9e6a-fbfead926e74 phenopacket.store:OTUD7A.PMID_31997314_proband biolink:has_gene HGNC:20718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31997314 uuid:25cc42c0-5936-4bae-be42-d56008e1aeeb phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:33381903 uuid:05171a58-6012-4b71-9a75-39fb78f01ebd phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:907daff1-f576-4f20-91c3-9c8f20ccf807 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:b4574dcf-ad84-49d0-84c7-83b03a3c2c80 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0032724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:33381903 uuid:0659a3b4-3015-49a4-92bc-5a937256691d phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:8ff42d84-b239-414f-bb85-e556261938fa phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:d46a3fd9-4548-42ea-a273-45c3e7fab189 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:87cb9297-ea78-4d18-bacc-7b64fb363ec9 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:1f7b9922-2774-4e27-bc10-4b674d61699a phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:66c6068a-b37e-4502-be7d-f677b62e0807 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:eafd6cbf-000b-4b95-9337-05489d906b8d phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33381903 uuid:57651682-a6dc-437f-ae27-c9ee44b40191 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0012704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33381903 uuid:e7d89670-685d-4489-9b41-7bab553fd5f6 phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33381903 uuid:791bb6f0-98dc-494c-a180-47b72de6130b phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33381903 uuid:6eb2ad6f-5ae9-431b-a506-e537a5c2d9fb phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33381903 uuid:c2eee0ac-16ea-4af4-9d2a-3c68a07a618f phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33381903 uuid:fd082970-b18d-40aa-837e-5d2b318eddbb phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_disease OMIM:620790 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33381903 uuid:f07e21d6-09a7-4150-afa2-a20c2213cd8d phenopacket.store:OTUD7A.PMID_33381903_nan biolink:has_gene HGNC:20718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33381903 uuid:e3ae6984-c336-45cd-b7be-2feb34659622 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:bd6829db-0bfe-4b18-a16a-8fa0f38f31cb phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:f6ebdc0e-161a-4d34-8755-c560a526ede4 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e59f326d-5a63-4213-9680-fcaab4c5e61e phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:63e49fc9-764c-4efb-9d38-abd11b170749 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:24b38612-cb22-40fa-86f5-195817449f58 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:4e832e9b-01d5-4cc9-a0f5-29b98239103c phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:211ed177-debe-4a72-9249-8598e36a86ba phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:7a1c587c-bc3d-4391-b3d5-ebeddfbc40b3 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:b088db6e-4ce3-4cbb-ae0c-577568bfdb03 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:c75fb6b0-76c7-4a3d-9412-44982e01dab7 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:62e676e2-ea7e-41fb-982d-4aae9a291fed phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:b92521f3-7dc2-47b7-ba4f-c284de7e1808 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:0fff83b4-9d1a-45ab-8bd6-d7746b5b10fc phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:da19ac31-73d6-42ca-9425-f5bbe2ab4bd8 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:0b34c09c-22b6-4e1c-9d6d-372bd4d333ae phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5ef6e87b-c309-4580-bc3e-73aea2335ded phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:efb58c98-fc0a-4a93-988b-ece5bb4b8519 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5219de77-7f0b-4dd2-ab39-d73c8bb4f2da phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:68290f4d-ab44-4172-b4b0-1d7a147683f6 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:15911822 uuid:73815c01-3c99-4d97-8ea2-89519cb86c71 phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:95a76e1b-5cb3-4bbc-ad6e-fc761f4f9b12 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:15911822 uuid:83ebd14e-cc30-4b04-b9ca-1575056a0788 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:ea32a7b8-d5f0-4772-8a86-089fc7a12dd6 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:898a0442-773b-4ce8-936f-d5a77eade776 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:dfcd4ea0-e15b-46fe-b6a9-5c74264021b5 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e2d523dc-295c-44ad-b908-57ad65e7a984 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:726a8c4e-1c1b-491b-aa65-a85385b322c1 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:94281af5-7426-495e-82d2-fb881d99b34d phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:d2938204-1dfc-448d-849f-cf31a958828d phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:f06ff616-b3a6-419d-8662-1dfa4bf33f0a phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:40d939e8-0a51-43c0-9652-026f198b530e phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ea5c2b7c-a37e-4103-903b-b11343d3e98c phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:83639e50-ef54-4921-9d1a-4499458fa2eb phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:afa75594-21ee-44fd-a715-522ab544ab16 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:edbc7e73-662e-4a46-866a-9db6170dc833 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:d75cca06-34b2-437b-bdda-b9e8d1156238 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:00a835b6-094a-4b4f-862e-901ad34349e8 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:f45b7082-e5eb-45ff-b175-1972367c19b2 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9e4ae250-a8d1-450d-a9e4-61b72c3fa637 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:15911822 uuid:0dea436c-d3da-4711-9cb8-d4e989d4af78 phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:d0eeb92f-072a-4f82-8680-670118a17ae2 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:efa76ce6-c8eb-44be-a811-f7a1d25522ad phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:665a93ec-a40c-4e41-ac67-00cfc6a48b3a phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:0f744856-efaf-4fe4-b6fc-d20b6d7f2225 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:b2aeb4c7-2536-4317-a3e3-b86651374a68 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:5f3adabf-0b8c-47a4-bf5e-daeb6acaefbd phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3c8fa18e-c9bb-4928-bc14-ea8a81ed11d4 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:43c13922-30d2-4e7c-a866-c92b74431849 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:7b14ad17-e1d6-4d02-abde-b838af355752 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ed7434be-6aba-4d99-be6c-6ea2d0279368 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:81c21470-1df3-4f1e-affa-8ae471fd90dc phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:3262ad83-65fe-4052-8126-d74eb7bc9334 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:209d3bef-c354-4330-b8e1-7cca91eebe98 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8bc13d31-3b8e-48fd-8c70-eb6771e4912c phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:323fa0d9-5143-49df-95f0-6dd31c876a6c phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:218e13d6-1241-4060-8604-670cfaa60771 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:d067b858-9d57-45b4-b0b8-f63b2a52b390 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:edea13d6-474a-4af0-970f-31bef64fe092 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:c0f295f6-968b-4363-b59f-c493f2f3db49 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:2bc0f24e-9fa9-4162-a204-399985d82e7b phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15911822 uuid:c44819aa-ea64-4d1b-94a6-031cd7d3da76 phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:8e9c0df5-a505-4e6b-bb67-0865f0f2d3e5 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:42cfb096-77fe-4170-bfe6-19275888c686 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:431b3354-2aa0-40f4-878a-5de6412ccaf2 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:f58d59e6-865e-4bbf-8b3f-533572c831f5 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:f530d575-605f-4f72-816d-a9272966b274 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e94052b2-8bfe-4edf-bac8-c915e1eca646 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e05909c3-03bb-424f-94a7-2244859f32df phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:8a13095a-29cc-4faa-86d8-2987a0fd41c1 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:a46d22c6-2fcb-40d9-a2b9-9ed942b53fb2 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:c713f7a9-593f-40ee-9b57-ff404700674b phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:1eb8cc8d-84fb-4333-a01b-dd19406ee3bc phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:6b7c3d6a-6f04-4868-904b-3842314a1606 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:6e7ca407-2ba3-4c27-99f7-be52de2b0590 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:716e3f45-cb4d-472b-a27f-ef1cd2d275f3 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:1ad771fd-677a-4c12-800f-9c0c4da4b395 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:003ed531-a109-4eb2-bc60-29cf4a33c1d3 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9aa7c47b-33da-459e-a0dc-19402758e4b2 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ed215673-62ce-418b-96e8-7b383945cb5e phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8c7ad785-139f-42bc-8436-e4a0195c9bbc phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:1bb1b534-5cbe-4e52-9685-c93b3cb78bd4 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:15911822 uuid:5bef530f-7739-43ac-b853-ac9c3a2385a3 phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:1449d9b3-c923-425d-9703-4983bc94dcfc phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:65a01042-1511-4761-a788-38cf09d510f7 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:c791fbb2-3183-471d-adb9-85e9a5f784e4 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:0ecde110-4f12-43cf-a0a2-b27c9ffa74f4 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:f00dddab-bc93-4b2a-86be-cdbeffce404b phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:6a879508-d603-4439-a2e9-e400744dbc92 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:76b68be6-0e90-4a4f-bf87-fa2d4f2e796b phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:de6e23f7-2c5c-4460-be80-e85d903eab18 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:495903e5-26a9-4a5a-83e7-cf5a4f229769 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:e3c6e26b-345e-4f6f-8e13-74e507461d3a phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:87446c5d-a6d3-4ee6-b331-a9ffdcd3a203 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:15fb415f-e0f1-47ae-9047-3c7944f6c672 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ce79d883-185e-4fe9-ba8b-4235564dcc94 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:fd966b17-9352-46a1-9eca-acf6e279dc4b phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:42d13858-e59b-4627-8075-b605807602a8 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:18e291dc-df3e-4019-a023-29e95cb7d52f phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ef3d4436-8420-4b48-a81c-0d8418436257 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:b4a51c63-b6b5-4510-9177-e1077d88d331 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:7d1ef752-527b-494e-9e98-389bbb9ac0f7 phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:15911822 uuid:8c82678b-4b5c-4ee2-b6a1-c1014ee8d78b phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:5aeb3c5d-1995-4822-98e7-dc6bbc4f6b4c phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:15911822 uuid:f90c2afa-265d-4350-be2b-ba901394d08d phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:edb2f022-5bc9-46a0-8433-0cf47402bdd8 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:acafbda3-9dd7-4fc2-8061-ef998d7e25a1 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:2ca5a0a8-31ef-4a08-88de-ac8684c234e0 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:7defab7d-d724-48e0-9ee2-e3867829cf57 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:4f89917d-86ec-4c43-9fca-e63cfb07d087 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:d1507edc-f69f-4596-a642-d75a9f1e1b0d phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:19ee098f-d8d5-477b-b44e-8943938a46d2 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:042d15b3-7df1-42e3-8195-b75dbf4143c8 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:6ab8e828-2063-47d1-8687-0a3ca94240c2 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:e204de9e-fd9e-463f-a095-c0a2b129b018 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:0aa28916-3f1d-4634-9059-a30f76069b8d phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:2b9c5def-0ef2-4bb7-8654-777d21bbcfd4 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5934cbd8-13f0-42b1-a75b-cd49bca50a76 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8fef9a76-b637-4a39-8694-5efd5a83d8b6 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:02b4af1d-195c-454d-bb8d-94edbab7ee81 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:d9cb1091-7544-4b94-8a0d-23fc81c69aa4 phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:d5176332-f773-4481-9620-0014eda18f1a phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:15911822 uuid:1c4d8877-9608-4615-9eef-588bf7c841ac phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:9394e0be-ed2b-4c50-a571-9e6b93f8839c phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:8c67e47b-aef0-4932-b859-b6593b60520d phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:4d8ae156-213a-4a71-ba75-a07a6759288a phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:ca0597d7-7517-47ab-b682-36de307cacbe phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:ce5ffead-1d46-434d-903a-dc3b900c915e phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:9e522960-5c25-4ad0-8a47-7585cfa77f6e phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:d817e44d-58e1-47a2-b922-010d9e93f179 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:679b4e0d-e378-4d97-a61b-cd10b4810c78 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:9467a45f-55ad-4a2b-9170-9be4afbfdc00 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:0cfae7a6-15c2-4e46-9ab0-db20222c609d phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:d59c3984-eb10-4e88-be69-a873064040c9 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:834753d6-770d-4553-bc61-75b7bbb1794b phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:b0a05a4b-0884-4914-8e02-cbbea52df40c phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8e1de58f-1393-48a7-917b-a949b47564dc phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:6d9ed610-dcf7-4f85-b560-9d6b12453da6 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:606009fc-44bb-4ca0-a94e-86cbc74b9934 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:78b00a6d-3a3c-4965-b721-7fada1e54167 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4415a66f-4536-4137-a8bc-d6e823960588 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:59943e2d-4d60-4a1a-87b2-1e35085f3ce1 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:42cf1793-450e-48c0-a69f-ad3285957529 phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:15911822 uuid:e2a094d9-f6e8-4849-b6a6-a5ab07b54ebb phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:c084c7e5-4ede-4778-9e16-b736f511195d phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:15911822 uuid:3d1eb074-835c-4da4-a492-e86667188f83 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:316a8c5d-6d72-42ad-975f-fffef61bdf2d phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:0b755231-880d-4cdf-a5a8-79bb58153e04 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:703b7b26-44b3-47e0-9528-1b5c20eab6f8 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:a022a49e-1ea9-49e3-90e1-68fc94902325 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:46bbf685-5257-415a-8588-7be699bb9463 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:71c42134-488e-49bd-825a-1cfb359223f4 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:7603ea97-6d21-428d-9a40-e1299415afb5 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:12a90bd2-8a43-42ba-bc4b-38f37a581bcb phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:77c05981-f7a2-48bc-9194-848adc2c7524 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4c03915c-1755-4985-9b2d-e249570dcedf phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5d05d9bc-7a76-4ce9-b719-bfd9a810cc2a phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:38e79784-7a71-46fa-99fa-530538fbc675 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9a51fcd4-71dc-4536-9148-ddf5fea9daa4 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:1d73506f-2025-4f68-8b77-707d2a9da275 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9d4a890b-c38c-411e-92e2-e641a187fe34 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ddb68af9-aec5-4084-8e38-645014e485b5 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:2a2414a3-fbbd-4a29-aa28-71ee2ef99c9b phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:50ffe45c-ebc0-490d-86da-8ce99f336625 phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:15911822 uuid:86506b73-0b02-4ae7-bd3e-ec504339211e phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:baf5be36-c515-44a2-af04-f29b4f6d4cdc phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:15911822 uuid:4ee60c2c-c706-4462-847c-2a367d2bd578 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:561912c6-ab22-4e08-9c00-b5ba82678108 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:a39d4f8e-c0d8-43fd-846e-445a57a1babc phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:7124b65f-5e12-415d-b4a1-0fe2b205d639 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:7740bf6d-06f8-475b-8021-13bec302814a phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:dee86fa1-5de1-4a8c-abba-91a28ac94107 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:581cfe4e-c39c-48ab-9583-8c22834678b8 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:74212f91-2de5-4f7b-96da-1d62112506d1 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:b05eb4e2-5452-4f4c-8046-6fd69f7ea225 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:819d1227-f2a5-413b-a268-011493e80318 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ddbd3735-bcab-4c9b-9b63-6f3f1837cb85 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4f9f7012-de21-4a34-89c6-ad03589d38f0 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:59d77376-cf4b-47a1-9856-66cef881835f phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9dc43071-f528-447c-aa0b-91171f5150fb phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:018474f4-b075-422f-bf57-49a1f7170dd1 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:856c920f-0dcb-4263-93d3-ff3c84727f62 phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8c83ea14-484b-44cb-a6ba-808e3f91ec9f phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:6c2ca104-1c9c-4c65-b7e7-51d4f90600da phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:15911822 uuid:01b63ab0-1af9-4f1c-8c18-2dfb830146fa phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:e2ae5b15-13f3-412b-8c9b-5fa0b985a779 phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28821231 uuid:00d2cb44-9bc3-434a-a29f-53460e60a5da phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28821231 uuid:51d62c75-c4d3-408f-95c7-45804826db4e phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0002370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28821231 uuid:1fcbf36b-605f-4b3c-afa7-91c3f05c7fbc phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28821231 uuid:77d14c07-9496-4c28-bba0-638ae0d14897 phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28821231 uuid:60eebf30-c136-4da0-9d29-8a3828690874 phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28821231 uuid:7dd71b21-f4cf-433a-a314-ecf75e4d8bff phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28821231 uuid:8e3a4b49-2c61-45d0-b8b6-6900cc47bb95 phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28821231 uuid:58649c65-fdc8-485f-83e4-0fa8862fc590 phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28821231 uuid:ccbaeec7-fbd7-4704-b063-ab41b88582fc phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28821231 uuid:d5c70aa3-98d1-4c2f-bc04-c4a014975c5e phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28821231 uuid:c90a4a5a-a59f-4314-a957-667cb93a214a phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:28821231 uuid:d848fece-0e2e-44a3-a1c2-3aade6fee20e phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28821231 uuid:a45d7457-67c6-4f6a-8a54-2ed321e4835c phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:15911822 uuid:6e29a58a-b6cd-4bc2-abb4-2e973ce81ce8 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:f162d5ef-78f3-4044-a7c4-7b821fee994c phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:406a2267-138a-4ab0-ba40-d3ff3d2c5263 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:8c3f3f99-67f6-4d8d-bef0-ba234ceb2578 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:8725d8e3-7cca-4e60-a643-c7bb8f4c9ad1 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:34c67a54-24f5-4a56-998a-e1b13a60dd13 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:09439c44-db48-4fd9-9e75-343998ba1eca phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:ac04cd9a-6524-4885-a12b-360e462d0067 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:615aff73-5e26-441a-acf9-115aff2c949e phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9db466c5-a945-4956-8715-42deb3e3bd1c phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:915fa5c6-bd18-42a1-94f1-7ff61f6d0229 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:b207ac9b-f1a8-4662-a4b5-26e442f947f8 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:835f48a8-b497-427a-9c30-15a9828ca34d phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:2c201357-e8af-4c69-9df1-18f77af4714d phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9e3522b4-df54-424e-989d-0ca14af42cb4 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:49c1ed3c-53a0-4af9-91b4-68f5d28bc8b0 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:3e112471-8514-4053-9eb2-c8198902b3fb phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4170ba7c-cb86-4dab-aee7-218e4abc0f05 phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:15911822 uuid:d8981ee8-c5cd-4c45-b5ac-baa737b1e05b phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:232929ad-e2e4-421a-a357-09fe65e128de phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3cf55d30-14f1-471a-b518-3681e2d1564c phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:a94336fd-6df9-45a5-bdcd-163184e561d2 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:d253dfa0-961a-4cb8-928b-06d25f96364f phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:6b2dccb6-7eb8-40e7-be1d-44e15aa284c8 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3ad96c9e-13dc-4ca2-8119-88a6601dfd6a phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:94e532d8-b7bb-42a6-9000-734a8b2b0f13 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:2235caa6-7841-4e1f-81fd-ace9c20fa5bc phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:cbe4716a-ccc4-4242-a52c-50a93bfbdcd0 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:cda6234a-f5bc-4ad8-8fb0-751d263303c2 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:fd093eec-a393-4ca5-b854-359defc7213a phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:fdc4011d-d26e-4b1b-9b31-6bcf3cb4d44d phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:da4e8a33-ade6-4774-aa10-dccbc9a56361 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:80231e68-e152-47ce-beee-76c33ba74711 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5a911a4e-ebbd-45fe-a251-e6090efd7ad3 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5e3c0537-94e0-4b57-9e1f-9637d81161a3 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:a31877a6-4081-4396-a61e-aa67d82cbdbd phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8d8e10ed-93f7-4d6a-86cd-70d27f408ab9 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:dea6b709-38a4-4a62-ac41-9b733d987bd8 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:fdf7f01a-5cd0-4382-b327-ff9d5d241eaa phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:15911822 uuid:0dd9dffa-f065-4dbe-917b-f5236bd71131 phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:179a6a02-28be-4884-8689-0f5c87962abb phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:7b71ed33-4967-4d88-b3e4-5ea2d8524395 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:a8319b4a-cad5-4b5b-9abe-9435e81daa1f phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e0dbb9ca-32ee-42f4-8bbf-cb99c3f2b56d phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:0994cc47-7947-4c75-9ffc-aa6d85b741f2 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3909651d-924d-4cb4-9a00-1f16f0a120ae phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:718e2403-9c42-4a3f-bf86-30d3b147f3b4 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3e938acd-16cd-4365-bd0d-669bcb0887d8 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:307260f2-9886-404d-9693-faa1de7bc979 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:a3b20a0d-7f21-4b11-9edb-c38148f36159 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:a4198566-f596-47a9-b567-ae57425d4618 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:bf06eab6-a63d-4da7-b771-7071917b1681 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:fd1908da-0497-440a-9f7d-7469e2c34c6e phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:a64a5112-264f-4eee-aeba-b2ffde70fd43 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:fcacca01-b149-4172-8c51-63b5b5da383b phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:86addd58-e078-4398-abd7-b8578209d049 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:c0f93131-a754-42f3-bda7-86c872b7bc74 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:793f9768-4a06-42f2-bd54-caa1f4ae007a phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:3bf251f3-4793-4733-b13c-778111475bae phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4c5797ad-91f2-4630-a086-22233d0390e3 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:15911822 uuid:6511a39d-1cc0-471f-ac3e-0d68a8941059 phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:96e28495-ddbe-466b-83be-57e1ec363524 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:15911822 uuid:9fea42be-dd16-4a96-bd24-5c0ba7763a82 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:bdd2512f-b0d1-4ed3-9a79-b136bb5567cb phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:8c823dda-3a59-4843-a5f5-bca7771227d2 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:660f0768-246b-4a1f-b0b9-dc701204fbd8 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:adbd0393-1c76-4c9b-8f0d-2586ec00bedf phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:c189e387-7c0e-4545-a7fe-46ac568cd792 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:1e323486-dec9-4e1c-9e7f-afbdb4cb828d phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:8d4cdcec-cf48-4c69-ba72-9f250690f0f2 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:93935833-8ea0-4a77-bd6e-4c462c79e799 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:afcbf93c-e612-46a4-85ad-84995278a723 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:3dc32489-470b-4100-859e-248590112c63 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:1766abee-c5f2-48d2-95cf-f9b9b81a1713 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:e3bf5aeb-776f-4594-bbec-bd90c28d9108 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:6452d486-46b8-4367-8a59-554b90b71594 phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:c5ef41b3-c8f8-4309-ac58-795d3152bb1c phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:ecad8d29-5f6f-49db-a6d3-9510ff6d555a phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4bec47eb-57bb-4400-a791-9eca0e7cfefb phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:58be43f5-ad65-4c94-b141-bf77e802eb3e phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:15911822 uuid:60d61a1b-8a00-496c-9aa8-2c89ed4de27a phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:e2e74c29-18b7-4af9-856b-68c571bcaea7 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:01716be1-8e89-4ce8-a853-f12e3303d88c phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:92eecf68-dfdb-4572-a746-b04402d2a04e phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3ef39c9c-5326-4856-a65f-1299c87dd7f5 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0002454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e2aa3f71-580e-4a44-937d-5af213ff3eee phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:84d76255-bb79-4c69-baa5-3fc5eb3356e6 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:00b7546d-54fa-4334-aa1a-daa11ae53975 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:3191a8d9-2151-46da-9b9a-055c68e787f4 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0100034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15911822 uuid:e8b47487-49f2-4d01-bba0-a889fdbea3f0 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:8433cb44-8ed7-4049-be27-8f4495160af5 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:d7658ad5-d601-4708-be41-0ab26d857531 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:90a5283e-3280-4ae7-b1e2-ba724955c9ab phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:29f53b01-5771-4540-80a6-ed4dc1644e57 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9a42d5bc-c4dd-4f3c-b1a6-9e188bf71cf4 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:5b700b38-d6b8-47a5-b53c-7a0629dcf19b phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:a4ba208d-1f2f-4a40-bfc6-82d32fb80918 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:4d2f3905-57ec-44c2-bfe4-483456debba7 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:a281c12b-ec86-4fcd-87c6-d1deb7119532 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:9d905725-b11e-4c68-8d3c-c177c509f7d1 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15911822 uuid:912a3034-00b1-43b0-81a1-f4d25bd00a94 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_disease OMIM:234200 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:15911822 uuid:df640587-f30c-41b9-95c9-efcca69d3655 phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:has_gene HGNC:15894 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15911822 uuid:2caa7718-7f7c-4204-b35d-0c5daa25bcf4 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27460976 uuid:4e407354-bf2b-4694-acca-3d2353dd80f7 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27460976 uuid:dde0b6d9-5321-47da-ab65-0d763ca05fee phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27460976 uuid:307b0ff9-e03c-4479-9d5a-03ab088707f4 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27460976 uuid:2f10fd61-ca65-44e5-aa5e-f36f2a890a42 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27460976 uuid:712c5646-7d5d-44f6-9031-64748bb1e551 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27460976 uuid:c974853a-17c2-4a6f-8250-8419b12da7d2 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27460976 uuid:a242bc11-c05b-43eb-b128-412610ca9122 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0004673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:7e1e0774-da5f-4dd8-a91a-75f4ebd3ecbb phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:49ba97d6-c0b5-4807-a1eb-ff20b8865934 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:7f480ca1-8bcd-4a8f-ae05-8c6033485eab phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:434b6921-e30c-4e44-b286-62871a53e386 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0100291 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:03a5d7b6-39c3-4a62-aaea-72c0d2e7cb84 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0007819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:fe6f50ac-0ce0-4c23-83c3-d505c1c8db44 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27460976 uuid:1d056834-b541-42ba-8321-a29a668870d5 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27460976 uuid:34b5d900-1713-42e7-9c04-c811263f9c51 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27460976 uuid:82d5d36c-0062-4571-bc25-3c65c322fc34 phenopacket.store:PARK7.PMID_27460976_proband biolink:has_disease OMIM:606324 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27460976 uuid:d71fd804-2efc-43c5-a11b-ca968e6893db phenopacket.store:PARK7.PMID_27460976_proband biolink:has_gene HGNC:16369 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27460976 uuid:1c580e25-9ebc-47c2-b22d-a9132064ceb7 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:79b74a1e-a3fe-4762-9b43-cc7d67c85287 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:54ab711c-6129-4c52-8f4a-be1d79258de5 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0012453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:b6532e88-7b1d-46c2-833c-ba3eefe4938e phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0012785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:03ae3790-87a3-4916-a80d-fc80206916d9 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:4f0192cb-2124-41f6-98e9-b8a487f7b8f8 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:295d6691-bb29-4174-84f8-35f016e7e9ed phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:f012dcbf-94eb-4b3c-8bf8-3fb0e892fb11 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:13b780af-cde3-452a-92eb-f3c0e757edd0 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:d01a57f3-bdb5-4e61-90b9-208c50d2aa67 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:33610c6c-48ec-4c70-b31b-0390d6c72c06 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7726174 uuid:3269d16d-8c7e-46ab-a155-30d9069763f8 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_disease OMIM:148820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:7726174 uuid:f002acbb-ae06-4ba1-a9e9-d4ca90e1c538 phenopacket.store:PAX3.PMID_7726174_propositus biolink:has_gene HGNC:8617 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7726174 uuid:dfdc0ecb-8ec3-429b-8ab8-cdd3b93494b7 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0012453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:4b4791f8-c96d-40a8-a85f-6938ca2e5a9a phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0012785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:7aa33f83-31dd-421c-a0b0-ec14d6e34a78 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:16c28c1d-6371-4f7d-9599-91e8685eee19 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:8449c567-25d6-414b-a17d-2c5e95b437d0 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:c06e0549-f112-4fca-ad74-3d181dff1981 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:9fbe7f9a-c34b-4a13-a281-cd330ee102d6 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:ccbf4b44-ce64-4f8e-89ad-58e7d279b224 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0000537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:07df956a-261b-49e2-aaa1-0ea483ada78e phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:e295d285-867c-4a7f-bb54-809a7267ffbe phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:d55dda38-ddca-47ed-a8f5-bc81256c04f3 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:c7983f4c-565f-49ce-a571-5e7695f16c41 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:75e5ad8a-e808-4845-a1ee-18186ea177c9 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:08e7c3f0-7bed-417e-853c-39597406bd4d phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12949970 uuid:0716802f-9612-4b8d-b4c2-707e91998027 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12949970 uuid:e11345cc-30e9-4006-90ca-29f36cbfbae5 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12949970 uuid:a8700294-b4d0-4b79-be59-3d08d48a9df3 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_disease OMIM:148820 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12949970 uuid:0c2b5481-c780-4e22-b105-8612c0707312 phenopacket.store:PAX3.PMID_12949970_proposita biolink:has_gene HGNC:8617 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12949970 uuid:3f814adc-416d-4e86-8669-9abaa496e214 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0004904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:6e8972c5-fc39-49a6-b80c-00a60f4d0498 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:a46274f4-46d9-4d8d-a601-b9bc90fbf543 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:1768a58f-aca1-4eed-9d95-53c6f3be12c0 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:36d101b6-fb32-43a5-8781-e64021e8c5a9 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:e3923c77-6895-4d16-9189-07ed1af545f2 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0032368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:dda45fdd-d2d1-45a7-a7d6-d16f34fe7a8a phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:52fd8a66-2b75-4e80-9efd-8360496e6328 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0040216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:36595822 uuid:e00a7731-60f9-4548-ae99-8afcb8f70947 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_phenotype HP:0025329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36595822 uuid:20d9a4d6-840e-4b66-b934-0699615d2b34 phenopacket.store:PAX4.PMID_36595822_nan biolink:has_disease OMIM:612225 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:36595822 uuid:f381531a-a87d-43c4-873e-ce33313a078c phenopacket.store:PAX4.PMID_36595822_nan biolink:has_gene HGNC:8618 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36595822 uuid:5303768c-2f1a-4ba4-afde-fdcdb4feea71 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:30451291 uuid:e9c53d4e-ad04-423a-b1e5-6e0763633296 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:3893e06e-852f-44f2-9e62-f25e8f3af62b phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:cf78afe9-bd4c-40d9-bccd-122b4262e512 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:2dde6267-e333-4689-bc1f-3ab1b5cd11e7 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:ab065def-ea69-4d8f-9362-67518b4b06da phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:25bc361f-13ed-4be3-9c2b-c0ef5bca2bb4 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:f16730e0-daf7-470b-86dc-ed57fec7e687 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:87ba39f4-20d7-471b-ab9e-0052c497a855 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:30451291 uuid:527ba59e-21a5-4c59-8ca6-e6e780131c56 phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:8031e6f5-95da-4163-866a-92482a8aeeda phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:30451291 uuid:75ae3d33-4559-4f92-875e-ed2e54a5c080 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:02b551de-9dda-47e3-8cab-c358b1bd4079 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:d1d8e0e2-41a9-49de-8430-5d1567c22870 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:cbeb8eac-f7eb-4600-ae5d-3ee0e545070a phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:979324a9-9c27-4047-a084-623001d9cb8e phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:a40a62fe-1fe5-4489-ab7d-6df473153dc2 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:556e0a59-b23d-49e8-8ef9-27d8da1f1495 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:ce4bf981-7753-4b70-ab79-b64387090279 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation P1Y7M infores:phenopacket-store PMID:30451291 uuid:184f0504-9584-49ce-87f1-ac61ef2c9e22 phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:69b97988-b8c0-48a8-879b-e611c4a69881 phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:30451291 uuid:7956e8d0-4f13-4984-9316-3c9e3ec7013f phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:98276ab2-d6e1-40f7-a4ec-2047fb1801f5 phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:5d4ca075-e02d-4b1f-8392-38fb03ea583f phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:b6614589-56bb-47a9-989f-c038d3f7d01a phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:108cf153-849b-444c-80a6-94807b8036a1 phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:fda0b0f4-13f8-4c7b-987e-4eb6b74c3739 phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:cfdbedfa-5255-4853-bf81-d3edf2888330 phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:45609e2c-2d3e-41cd-8d89-10c1726de135 phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:30451291 uuid:52444c67-63fb-4c77-9303-b5fd3d6d8dba phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:662f5f02-f1b1-43ad-a161-173a3e5092d4 phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:30451291 uuid:8a3c0d67-d1b3-45be-b883-5b22f360cc0c phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:523eaa02-7671-44b0-9ebf-1604b72764c8 phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:dcb6a815-d19b-4e89-933b-76fbc6703a1e phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:c9a12511-e89e-4759-a738-6082f05a60da phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:f67f66e1-c2c5-485b-936d-8b40b1698bbe phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:97cd6299-9dfd-45d7-b72d-c112fcf260ee phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:99435614-03bc-473c-a8d0-a6462b98d012 phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:fefab3d7-b379-4662-a8e6-9e91ab44bffc phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation P1Y7M infores:phenopacket-store PMID:30451291 uuid:76eceb40-65ce-4e14-85cd-e395ac6aac63 phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:3c4eb437-8c45-4b91-89dd-509732886df9 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:82631728-5a08-48d6-9d1e-9c25104a8221 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:6535a58f-9b28-45bf-ab6c-ac672b2b5994 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:6d2f7a3e-96ee-4dda-92db-0963f0e7542c phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:cb571d40-da6d-4c74-bcb0-97f6f8130e27 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:598aafce-63de-4a4e-b989-1495ba3654d3 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:a4210bff-ea2d-42ad-9814-b983e252d984 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:0de8ca52-a8ee-41e5-9e09-9ffb95ff4027 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:82c020a9-e564-4ecb-bdc4-0b3eba6f7a61 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:3205cfff-f451-4e22-bea7-2ba27d404cb4 phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:29cf8447-12dc-4c0c-b3c5-f490b7e84b77 phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:30451291 uuid:d53ebb6d-f0c2-476a-983e-d0aa894543a2 phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:d11c5213-926b-4371-92ac-95ce61e66b93 phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:34204a50-4ae0-4367-aa28-327247c875f0 phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:8dd41788-3c9e-4172-a5cf-8224074f2b9b phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:a3772786-bc72-425c-95fd-c0f85135289f phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:bfeec114-2710-4560-97c8-9f879a844b4d phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:a968eff1-b74e-47a8-8259-21fd781c69b4 phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:6f982b9f-1761-45f0-af3f-56c3b8355c15 phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation P1Y7M infores:phenopacket-store PMID:30451291 uuid:81dac652-11b7-4b0e-b0f2-bf231dce034a phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:aabaae7b-8874-4fc0-8f86-0db92a5a6362 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30451291 uuid:720503b3-e8ca-42b9-92c1-ea45a49a8c01 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:889ca5fe-bc6c-4822-be30-499b80f6fccc phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:2c01c412-c879-42a6-8f1e-93e8bc2dfd32 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:b271bcb7-6d8d-481d-b9d5-359221dd1476 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:35cd9159-f360-4776-b8d1-60999d7099ee phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:8252bed6-8191-4561-b1a8-22f2b57f9289 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:9b7736fe-d3d7-4ffe-938b-9c45c64ccb03 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30451291 uuid:d748b4b6-88d2-4f1f-adbe-88e3ffe39563 phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_disease OMIM:300088 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:ebb111fa-766d-489c-b6b6-8c3aab15b1bf phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:has_gene HGNC:14270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30451291 uuid:762b38b2-ab2a-4fec-b6dc-1e78adbd8ab0 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24889630 uuid:f6bc3631-b241-4e02-a1d7-9af7e8e284b2 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24889630 uuid:d6fab728-3293-47f3-9957-156558d292d9 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24889630 uuid:092967f7-5571-4c3b-9734-8fd3d165ff37 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24889630 uuid:3c11f24d-4f9f-483f-bdc5-782aad54968a phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24889630 uuid:27a83296-ed54-42af-a46f-0652f68dbdbd phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:c5460c5a-b3cd-4786-a23a-bece303d7639 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:7c668a3b-1f85-42d4-a83c-0625dac19a92 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:4db2429d-6a1b-4330-afa8-fa05182f3451 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:7a2ef7cb-b8c7-4c77-9af1-38a5acc93fba phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0030685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:0d830c6e-51dc-4ebe-a06b-54093280c827 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0041079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:3510484f-15f9-4b82-953f-3a5c383d2f17 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:818b28f6-a791-4cd6-b735-d4dccda9a8f0 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_disease OMIM:620680 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:24889630 uuid:0261047f-b83a-4d7b-b179-7e54acefef83 phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:has_gene HGNC:8754 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24889630 uuid:2a50cd3f-a514-4d7e-b050-31e658a972a6 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:24889630 uuid:89c3c069-1039-44d2-a719-8c111bcad0be phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:f234e5de-5c4e-4256-87c8-5ff872e27ac7 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0003635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:24889630 uuid:0c5ebda0-9a36-4d60-8df7-8d986e2cb69c phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:3006abfe-d8b0-4101-8c08-9ac2f0407eb6 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0002910 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:86224d47-f26d-4618-9406-ea5ee51eb6ba phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0000855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:bc1d7b0f-fbd9-4ce6-bb45-3c791fbc1473 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:52b0e5cf-b452-46ef-9ee1-b9dfc3510bac phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:9623fdf9-37a5-4e07-b4ce-3084a66b437d phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:cf59d025-9a99-49a8-9594-9e58aafb71a7 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:4f09aa67-1cdc-4636-8640-791be77ed12b phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0041079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24889630 uuid:3feac511-e623-46cd-af0c-ea7bf392c940 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_phenotype HP:0005978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24889630 uuid:33147c60-e440-4bb5-b5be-c208338d4d6e phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_disease OMIM:620680 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:24889630 uuid:689ce7f7-37ab-483f-b661-5104c9d28e10 phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:has_gene HGNC:8754 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24889630 uuid:1c0b7b3b-d22a-4551-ad08-8acf4a5df404 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0100651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34183838 uuid:8aecf2b8-68fa-480f-aed5-613a7f40240d phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34183838 uuid:8fb1df45-3085-4c64-9541-2a48b4df1dcf phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34183838 uuid:2fffbf7d-4161-4a15-85d9-0890f1373cd1 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:34183838 uuid:f38513e7-ee69-4209-8ed3-7de98079711d phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0100592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:34183838 uuid:2a30baab-3041-42b7-87c6-4d55562ece09 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:6000901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:34183838 uuid:8b4a799d-c54b-47d1-8a16-335116a9c186 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0025420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:34183838 uuid:4730e118-4e62-48a0-94b3-ddd9fad71d81 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0025179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:34183838 uuid:f4efec4f-2b3b-4a07-85bf-682cad9fd07a phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0032271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y6M infores:phenopacket-store PMID:34183838 uuid:4402fbe2-278e-44bf-99ba-2b401999927d phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y6M infores:phenopacket-store PMID:34183838 uuid:ca5e982e-a7ac-4ac8-8d18-ad03d2d4e189 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0003237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y6M infores:phenopacket-store PMID:34183838 uuid:df3acb2f-c095-44ba-9ad4-c7cf6ebc377e phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y6M infores:phenopacket-store PMID:34183838 uuid:960886da-510a-4a9e-bdb9-42ff5387337a phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0034062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y6M infores:phenopacket-store PMID:34183838 uuid:7cbe2508-8807-4ca1-8399-90e5b1d59758 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34183838 uuid:7f87981c-2772-4576-ab6d-398575cea67f phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34183838 uuid:0546e7ca-914e-4066-838d-7037ce79c1b2 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0002958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34183838 uuid:8ee62fca-1696-4e1c-abec-52f2162923fa phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34183838 uuid:b63be258-129b-4c91-abf1-7ee230193e86 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34183838 uuid:83cfeeaf-f04e-4134-ab25-dd87acfe2b5c phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34183838 uuid:c3f34d64-48b4-4d0c-9c42-ee22ad86182f phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0410243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34183838 uuid:c5cead7b-7717-41fc-9f63-52487d5bc25b phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0410241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34183838 uuid:0ecf38a6-a4f7-4ccb-99d1-b37ab2b52fb6 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0025329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34183838 uuid:fdc80977-c88f-4079-8e7d-fa32a12ede83 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0034063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34183838 uuid:0c3b9c5e-0da5-41de-bde1-f33e515a8b96 phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34183838 uuid:54e3f9d3-2baa-4557-a9e1-6d8b30f6f55e phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_disease OMIM:621004 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:34183838 uuid:ffa649a8-ca78-47d7-93ab-b4ab2e351dab phenopacket.store:PDCD1.PMID_34183838_patient biolink:has_gene HGNC:8760 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34183838 uuid:dfcb7251-bb91-4918-ba30-b34d006bf933 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:288d7768-687a-41e0-a3d9-e1f8ecc433d3 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0031943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:e0621871-a467-416c-8929-e2957c0cc93f phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:6665565e-929d-4555-8389-7cf57b94c224 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0031960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:7f068c8a-c0bf-4fc9-bf68-9a94285959cf phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:6726e515-bc00-4d97-b8e8-537df4970598 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30564627 uuid:b98364d5-c3ea-457f-91aa-dfc3ab604acd phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30564627 uuid:d4f9bf0f-bb1d-4c5d-bcba-ebd6bf147f87 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:dd5adad1-aa77-4e51-b25c-e00baf2fd070 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:5b5f85f8-30da-4dc1-816b-9aaf47a77e1f phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:341b2f68-1abd-43de-a254-cedf5449fe24 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:01828cd0-e51c-46bd-ae6c-d91114072600 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:a316133d-982e-40fc-aa6a-573906668063 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:7c5e0bb2-cdba-4481-a2d6-1c412203efd3 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0000763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:83f47148-ecec-4ea7-a380-9a7fe702a19c phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:1795601e-110b-471f-8014-85c604453038 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:9af8dd44-4d11-48a3-a774-123afca98b6a phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:697e0b30-e254-4e39-bd71-530b291638bc phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:35d8f7d7-9105-48d6-a3cb-1f78fc23665d phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:3cc0a762-8d70-43e4-867a-1d68f75252d2 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:57b07343-9d95-44af-aff5-bf047a525844 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:737a30bc-756a-4c1d-8baf-6a805a1d90d9 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:93ca7349-1ac9-46bb-b473-1549c7525afa phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:5ffd835f-7335-4459-b8cd-5682af8bb1ca phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:fc45de20-65e9-4da4-9daa-18b8312ad710 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:f563359d-d254-429f-acb0-728311806842 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:43a95d95-6997-476b-ab37-72fee4e483b0 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:3be53d5a-f5c9-4e33-bcba-092a207e07bf phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:4feb13ac-30c2-46ac-aba2-83a90d777b27 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:7e39d819-2473-4c84-a020-d3405189339b phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:715f64ef-d70b-4731-bc4a-b2ce959178e4 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_disease OMIM:620732 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30564627 uuid:f20b92e0-21e7-42f0-aedc-175cac46de49 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:has_gene HGNC:30031 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30564627 uuid:6a787131-7772-46dc-9bff-79a2e10943c2 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:ee839515-0dc8-4786-adeb-f2abc437d08c phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:35880319 uuid:a52d18ab-4534-4780-92e2-3c8c865680b9 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:35880319 uuid:c437b749-ed2f-4bac-85e1-710e0d8b69fb phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:3bfefea0-ed1c-427b-857d-22c8b8466545 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:5a98c92c-80dd-4276-9374-0b57426f0029 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:e27d6f06-afcc-4fe3-b25a-521746cf6a28 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0031943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:7c2d6970-767e-452a-a931-66e8e333a259 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:e4b240e6-9d18-4bc0-baf4-084e9f231814 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:9ca75107-009b-4ca1-8a15-786753eead7f phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:1318bc9e-9bd6-4df2-91d0-3721452ce06e phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:b646a7c6-a80d-4097-a0dc-316028106494 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:eb5267ee-1fd3-4707-aa4d-81d33b5b57e1 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:c8893f2c-36af-4d82-b4de-965389c1fc9f phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:4460e680-64b1-45f1-9415-354e25a9395d phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:e65fd3af-c1e0-4f6a-b28c-37db5557938d phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:2a0ceca4-b3e0-4ce6-8b53-4b37ef5e07c7 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:c7d5a23e-0e5c-4915-a63d-57f5004c67c5 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0031960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:f3c785b3-d4ce-4640-86ab-8023a2a5462f phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:f0337043-f551-4bed-a32a-82e8c46b661a phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:738b872d-e24b-4655-97c5-d1a9c86e040a phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:227ab186-47bc-4aec-87d7-84c54cbd539a phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:63f864b8-d397-4fa6-b090-7f2d147e2044 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:6e53add8-1021-4130-8f0d-0aae4d7e730b phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:b79c33c0-2ec5-480e-a976-1c1a8953978f phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:1409e660-3aa1-48c0-95d5-716365d3c82d phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0000763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:4739a22d-b046-4ec4-837e-5052198657af phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:a82c82e4-d982-4ed3-8efe-0290c560cb04 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:97c5a780-05ff-4b6d-aed8-9c5fc971c6f0 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:29c1b890-9c1b-440f-ba99-8a5e6eb5823e phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:f777f0c1-3483-4c67-ac74-12d79f2ff7d4 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:9b795917-1fd1-418a-a2ed-8ba908adbb5d phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:aaeee261-083c-4318-ac0b-a0befb5a78e2 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:77923203-f27a-4e6b-995b-c3ba8b56eb5b phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:87d6476c-970f-46da-b367-d4d0a113f2b0 phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_disease OMIM:620732 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35880319 uuid:5c2a291b-7aad-4541-ac13-6a46e6d8645a phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:has_gene HGNC:30031 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35880319 uuid:be069e71-fcce-4728-bdc3-089743888f88 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:87908263-5662-41b6-9750-3b0744370690 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0031943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:07c4ffad-aff5-49dd-a4be-f194b8db873d phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:8daef735-bf8b-484d-a054-25263d8ef76f phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:6375c26c-9d94-4d23-8741-e5ea8ca5f012 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:75f4419c-b917-4f12-8d83-a83a5b1a6396 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:24c89b39-aead-4426-95b8-c482269f1181 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:35c4e533-9ca7-42ad-af88-1c7190085403 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0031960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:1d86921c-a2ff-4dec-9044-9039cc6147b6 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:0ef2ffa8-c1ca-4efd-b33b-696c922861d1 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30564627 uuid:bfff2487-0621-47dd-8bb0-39318eb4d996 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:30564627 uuid:5953eed6-d889-4373-81eb-f953290c9b71 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:4a814f11-0d5f-4d6d-965a-40a0780d831e phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:b8b3fb05-072a-471d-89ee-ca5eb044ab2e phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:9f35d3db-8659-40f4-8a2f-ad74bc904bb6 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:8b053a57-827f-4143-a5a2-e18e9f1ddd20 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:7efb2fd5-0874-4e98-95e8-b1076ad85c8c phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:3183b550-8a03-4a57-9d7e-c5192bcef22e phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0000763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:40ca6fc6-2ed4-477d-b265-334749cdb2f3 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:f25ca2a8-0e4d-40f3-a528-183fe30f3035 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:33328bfe-7c0a-4905-8675-ee09493ba284 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:ee065506-fa3f-4b40-8fb0-82e73de0a9a9 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0031354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:7880bb7c-5102-48cd-8ea4-0a95f4eb3b8b phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:a022fa9e-c90d-47e8-866d-319b510963de phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:df874cb7-6b2d-4625-b521-15bed09164c3 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:9696ee54-59c8-4e46-8006-94793f16e9f5 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:96dd7c3e-5242-4a59-bdb1-ae9fd456898d phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30564627 uuid:0509cd43-67f1-4fdd-8739-201ceb726b10 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:fd0144d6-443e-4eb0-a9b2-6c96f35be7e1 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:1e840cf2-2e34-4bf1-80c4-77d3857061be phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:9780a6ba-9daf-4556-8c19-b5dd7d1052af phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:a594da64-e315-4fa9-bc1f-2fe9434eb51e phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:fa9b0d70-a141-41cf-a11c-9099d26d0ba6 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:2c5a48fd-5d67-472a-9b24-08c7e43e0ddb phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:72ef59a6-ccbf-4111-86aa-cdea332eb108 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:780bf03e-4b4a-41d2-8205-a6baf6c923cd phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:d7e1c26a-185e-4946-adb6-d27939fb3e64 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30564627 uuid:26d3754f-1507-44af-bb1a-bc750b299868 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_disease OMIM:620732 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30564627 uuid:2550ac83-623d-4a64-86b7-cda35ef68311 phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:has_gene HGNC:30031 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30564627 uuid:db81b058-d848-431b-8153-33737a64e533 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:35880319 uuid:126412f8-a06f-44e2-beed-e6737ff5e268 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:9ae297ad-edc1-4bc4-b226-174ec1f7da7b phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:9ce28ccb-4a50-4bd5-91c2-2526b1dc826a phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:ea566b73-4373-402c-999f-0dc562f7ce0c phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0031943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:1d032da9-d877-4644-bb38-6ad3213282d1 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:fe51b3be-908d-4df4-bd27-00d83b87af1f phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:cb1d6f3c-4f6c-4f1d-b20a-e7ae0c9c4b83 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:c45b09ca-9c53-4c4e-a4bd-5c8f92998940 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:5cc36b16-603c-4775-a072-92ffdd7ba8ed phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:d8e0e144-c3cb-4b43-9dfe-bc90889d8ec9 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:3992f0eb-6676-43ec-9ef3-802ab5540d78 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:21770045-a064-48a2-b5fd-9299ffcd3038 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:184d9d1c-c8ce-4e1c-bd6e-f62a114f6e26 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:3771a982-cfbf-4d0f-b7c7-442b4988029c phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:e95a5cee-a415-438c-b747-d3f3bab5e1a7 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:4360c672-3a45-45fb-84c4-2909da16283e phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:9b8b31aa-f494-47af-8b74-29786d9a0e1d phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:a7f88dac-c086-40ce-87bd-577be1991796 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:57514fca-408f-407d-a28c-749d28aaddc9 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35880319 uuid:92a4a50f-d35f-4b3e-a176-9bf3ff477bc0 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:6c36deb7-e464-4596-b5a6-5c4ae0efe580 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:dda4f8cc-0e99-4ce9-b113-ac3ad1984391 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:1e3a3526-48af-4e80-abdf-43d439a353b8 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:2dd0a2f7-48cb-426d-9c1b-d3a2947b7719 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0000763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:8f9bac75-bd4c-4b1c-9176-8aa9a084533c phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:ab1b7193-162a-47ed-9947-c23c3d5c875d phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:a3142462-a97a-45b3-acba-c3a6d47ce40b phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:338ee5ec-d7be-481b-958f-0c8ce43060b5 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:342c5140-8d50-4405-8bc7-012dad848cbb phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:07e2710d-c590-4fd7-91b2-fcf9ed57f0ae phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:e1358bb7-0fe3-4648-b182-6223f85c7f0c phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:1530f1e7-d68b-41cd-a430-3843aead183b phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35880319 uuid:3463825a-29aa-438a-9f7d-9914ba635b3f phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_disease OMIM:620732 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:35880319 uuid:4b427136-a55a-4dcc-9c08-5d5ffbe37506 phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:has_gene HGNC:30031 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35880319 uuid:e4978607-f3b9-4527-974f-c06cee17343f phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:9d03d9d7-b0cf-4a83-8d55-5a7e775f04a2 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:088be6c8-3ebe-45c5-bb80-63597cc5a0bc phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:f5e7a035-c182-44fb-b855-536b64516cf2 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:6d8e99c4-c697-4922-ad8e-f72887933e97 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:5e1633a1-e373-4f95-aac0-68019f44494c phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:b78dd3cd-c3dc-4266-8e7b-44df298d4957 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:030547bf-b91b-48ba-925a-397845dc8037 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:6e48ebec-cb39-4b22-9c96-4208c5b3b914 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:605bc709-f484-45b7-bfaa-ceaec517543e phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:1e713fb4-3d49-44d1-baad-e4ef79511a9b phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:a8a3a157-798f-4b2d-b7fd-dbd85127b7b0 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:7b33236a-bbde-46af-8321-25f7b5699615 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:6be6c10d-4113-42b6-bfde-2bc41eeaafa1 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e4ad3749-22d6-49e4-9951-124f2b3cf7fc phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:f2e95b09-025b-44aa-9c36-fafafd01e5ef phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:536dda52-41d1-4b41-9b2c-21651d71b982 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:7bf6d45b-e710-4625-a2de-8e96696e3c04 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:14dbd68c-3299-4e1a-be33-1c3e0b27838d phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:579cbaa5-43ce-4f78-a22d-9798e311b956 phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:b04470e7-45ff-4276-b40b-29db700b50ed phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:53b8a9fb-8af2-40e4-bf3a-de9e76a8a909 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:d03baad1-9271-4ac1-be01-74fdc26d8470 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e9295c41-792f-4f20-ab2b-566772d81d95 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:f3e6bcc1-a708-45ee-b49b-7ba38a2c55d3 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3a9943cf-1db3-4275-a313-730c41cc7e28 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:5814c0e2-2940-4dbb-a23d-363de252f2f2 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:a41812a4-032d-4143-a527-0e15c2b1e5d1 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:2a6752f8-5469-457f-b792-2d652068bf23 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:ae62b874-8f10-4416-8591-19e9c4380e08 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:d636c070-0379-422c-aa3d-7c2233b0237e phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:7bdab0eb-1c0d-4e0f-b3bb-6e07a6140a48 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:d38c29db-a2e5-491f-9bdf-783bc8445d17 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:a8e8d103-0dbd-42e3-8352-b000eac0fedb phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3812c9b2-5c66-48d5-aabe-23dc600eef25 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:1e982b14-7017-4173-ab42-6b40d345ad29 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:c8dafac2-7552-4de3-b890-e223c692e39c phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:2c38fccf-4d6f-4e2b-8851-fab3e04573be phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:7faddf96-72e4-4664-8388-aab81512bdcd phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:b24b3666-bf86-45e9-8e07-fa6e96f61201 phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:baf5198e-e669-40bf-8881-ed20700844be phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:869b7290-5f62-4d70-8605-ed67099e5a24 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3e0a9f15-655c-4f3d-8919-7aa20a9e9e91 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:aeda81bc-1e83-4d62-9623-4dc07dc0b775 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3b2adf1f-1d62-43cc-9ff6-d7de37128e2d phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:17f958cb-fa7b-46a2-a24a-b8e440839d8b phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:77f6da76-d7d6-45e0-9021-bd3622460ac0 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:6ff0b1ce-391c-4557-941a-939f7a5eb61b phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:faacc00a-d062-450a-b608-49db7a1d70e2 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:17b5ebe7-79dd-488e-a588-be0a91069a76 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:8acb6e53-7d59-4506-97a8-0b210a7280a1 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:12a20123-74a3-44cf-9c24-facd46c72f52 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:1a434a33-82e8-4a5a-94f3-ab54e8533c71 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e9de68cb-8219-438a-b917-5b6e2c51a0e2 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:0a7400e8-8530-4663-bf2e-2a3fff8c6204 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:df5b2cea-f1b3-41c6-bbd3-d04a5215cf23 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:8a1c835c-098e-4e60-8bff-20998e274be9 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:b993216c-a712-431a-9f54-db0c2f232f3c phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:6327ef2b-1f41-478c-8d8d-8d1505bfdc50 phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:f4071027-b709-4212-ae5b-5f0b6397de87 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:9e9d8ecd-7d3e-46e6-9c45-247909470997 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:8c71e160-9fe2-42ff-9151-2425232d5588 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:adb76716-fba6-4e09-8078-e5177398ba5a phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e35907ce-4531-4796-9e1e-29d2f3b6450b phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e99117ff-139d-4624-b5a4-331430106c3e phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:08903cda-0815-4380-ad2e-4520aea7f5af phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:df832418-ed4c-4a16-a98a-c7ed70a9fec4 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:6788e8b4-9464-4eb0-a091-5325e307cf97 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:f66e695e-73c7-4351-b875-53f9e81ae6c9 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:062469a9-668e-4fe5-98bf-2332bc82ee8d phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:368b9242-c1e4-47af-bfe1-bd616f0ef26b phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:c8d84df8-ab92-4b07-99d8-4b73241a23a2 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:93defd19-c647-4c55-aea8-7562911a5f34 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:2d001858-6fc4-49f9-8d60-59bd8f5c5eed phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:19561f78-2445-4003-b5c4-5b4df259693e phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:59f3311b-0f1c-4f0a-9870-cca0fca7c664 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:e5290fb0-20ff-4c96-876c-0ae707152586 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:05ed70ec-b6ee-4e93-80f7-c8f6b07f2945 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:43b33b6d-0084-4326-838a-79ef565246f2 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:10672e02-e0e1-4014-b9b0-f41275153f09 phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:e35c6add-3fe1-4656-a449-905f55278777 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:8e76b019-a31a-4610-8a84-67f925eee7e6 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:b84803f2-fd4c-48ad-986c-d45473d3e87f phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:cd7b7fa9-74f3-4a58-a496-eb2744becd18 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:742ddd3c-0480-4454-a677-0466d54eb0f1 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3c6c4b65-41d6-4696-9620-9d30bb8f9c76 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:de4f24e4-c98b-4f1c-89dc-6abafa53d74f phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:57110ba1-80ff-403d-a1c7-444797e30a36 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:2de97ed4-70d3-4c45-957a-10383e7407f3 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:1d7ede0a-f255-4a26-92e1-3c9c2a6f63e8 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:ef94699a-acef-4d29-af8b-8bb6a260f204 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e6c54e8b-d696-4d5a-a940-18b2d51f69ac phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:0f31fa06-f61d-4745-95f8-0bf33ed07d01 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:2fcd39cc-8c54-48b9-9835-b380bab5a8eb phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:33f29024-411c-41a3-8e69-1bb45ee3fff9 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:7a523450-71b2-4ac1-aa7e-4dcd2c03111b phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:e87bfd9f-258b-4d38-aae3-ebaff553fa8e phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:c9b08636-a887-404f-9c34-ce7dbad28aa6 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:12831030-9ace-4890-9824-d16153a8b4c5 phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:3ad42d12-8742-4e1e-96ef-21404b7b359a phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:55161b9a-6027-4a53-a59b-c071969f4e3f phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:b8eea9ca-5c90-4100-a800-07242fb0b2fb phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:05fb5e7f-9cc6-4260-8b4a-fedd089b16b7 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:c02b8f33-7ab4-47c8-a1ac-17db3fa4ffad phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:b1cb532d-6941-4120-9c13-de1acbbafd5e phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3b827ab9-61ed-4945-8652-ca26e50c68e9 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:4d76df54-188a-49d8-9966-8ac8768f7be2 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:7d580c4e-a08f-40d4-99d7-62b1b12e1d44 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:78720bbe-6b40-4879-9fcb-f824ba61210f phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:144fc8e3-9cab-4154-9abd-d37ed7e70b49 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:a0c9fc8e-6c80-4f5a-afb5-cbfa07d58326 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:484a7066-e537-4af3-bf86-f9910655d874 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:95c6f682-04d2-4b36-bb84-e07097dc78c5 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:024cfb1f-be62-4a13-b153-d4964b472873 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:921b0a06-c4a7-4e80-9ea5-e5bbf567cdcd phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:1565e94d-7230-401a-a5c9-01eefc1a8b05 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:2291ec36-82db-4d88-a3d1-12f73c6a1304 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:1c1f997c-7103-43af-858a-84b6836e2743 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:815178b9-6c35-4786-a9fc-7aa140ef2fdb phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:799fb016-beef-443f-b6c7-2840bccb4217 phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:95b1219e-6d3c-4953-ac3c-c98189faa96b phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e210de18-5ec7-4e7a-8cc8-02d45e7c2dc3 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:1dd17b3f-15a1-474c-b41a-9a10543a00e9 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3e348d1f-3e22-4b93-ad97-bd6e59af03dd phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:82c3ce80-0f4a-4ee1-b2e4-0ea8b9f414e0 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:375b8008-171e-4f31-b8e4-d40f76cda45e phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:d46f6687-fbea-403a-b4bf-2672cdccd37d phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:40497054-7c55-4ba5-8b56-6845908eade5 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:aed5ad80-fb49-47ee-b06e-1e2f25b53e17 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:816fd101-1814-4fe4-b566-e138d9ffb22a phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:50d5093b-f8e2-48f7-a035-5b4fa967334e phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:ef326e8a-2e56-4d0b-b8ca-64d5f73de6bb phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:89d6c475-0c01-414e-960e-5798b4d1b437 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:bb9a5168-11c1-4392-9dd8-412e04270d5a phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:0c5db8e7-a927-405b-8fe6-fdbe982d1fc9 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:60f0dba7-1e78-41b1-bbf4-36729d0541e9 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:f679a87b-f701-4ad1-bdda-1ee6d090e92a phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:80e36ac8-bda4-48c5-bc85-77485ba50d67 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:e99d8a0d-39cf-4a75-86bb-8d2b6006e5b3 phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:4f396956-fff3-4d6e-bdd8-953dcdb53428 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:3cbb919b-4a28-4497-933f-ff35eed99bfd phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27974811 uuid:01409134-53e2-4067-b2a7-04311847b57b phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:068e87ba-7b91-4c73-859e-05af2968cb6b phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:d9b12180-b6bc-4a02-bfa8-eabbc9f3199c phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0007010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:51c34e3d-b952-4e2d-a958-a278109fb21a phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:f245084a-a85d-431d-a86b-ed93edca7e75 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0020152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:42256ccc-5efb-4aad-aacc-e4cc83364320 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:f863a0a2-3cf1-47f3-a3ad-e375fa86ac38 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:0be157b3-bf2b-40ed-88f4-ad6ddc628386 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:115bd768-5d5a-4af7-beb4-15ce5d9c3c46 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:30f3650a-5717-4a20-b10c-564ae6c3db7b phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:15ba9931-2d59-4b7c-b89a-db18eba941ce phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0010831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:a8b0c4dc-7dce-4c09-9e95-80dcd3eb540a phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:fa2eda23-8702-4b14-8614-3474cd1a9e50 phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27974811 uuid:248d0a1f-0094-4c87-a47d-d3c559d350dd phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27974811 uuid:93d7bca5-86f8-4171-aabb-95d8f9857d9f phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27974811 uuid:62498724-e165-4eb4-8543-77fa7942723c phenopacket.store:PIEZO2.PMID_27974811_individual biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27974811 uuid:c8011818-090b-447d-a416-551cbc963581 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:b081a6a0-f17d-4c56-bdc2-7aefa3bad2ed phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:96c81aa7-f0e4-4814-b4a1-a065f78e31d3 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:530951d5-67f1-4953-a575-c3e65156bd7c phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:fc5f3ee1-9561-4f7e-8984-d6489bead66d phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e77b84a8-dfa1-4550-8966-104b420b2523 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:46549187-784e-4569-8cfe-be876352c395 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:82a81083-ecf6-4703-8c9a-af5487913ec4 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:7cbb5fe6-bc59-4109-a116-f29b5940af45 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:4da0c904-b14f-4b59-9401-1ebf0ac02433 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:bf1a5c2d-6cbd-438b-995f-4607ec0d0209 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:dc9cefb5-3bd3-41c3-9c5c-e7822f496e9b phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:ff55a9b1-5af4-4f23-88e1-7ec270192c0e phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:1e1f35e6-e184-4cd6-91a0-f2bb2250a193 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:6fd36ab6-8b4a-4faa-9b0e-7b8ecf2bff50 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:26b8b5de-7290-41ee-9e4d-3aded45e9665 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:da30f4cc-cd90-4ea4-ae87-b854353be5fa phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:5ba64e47-0878-470c-8123-17a2332b301c phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:822d6804-fa7f-4436-b34d-fc6cc7b2e20b phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:c59e5afb-8c4a-439d-92c3-9a7e4b789ee5 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:5d1da305-e2a7-49d5-abe5-3d9a0cc46016 phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:0c9ad01e-cb1c-4f21-9ed5-02fde0cd6fc0 phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:4611e844-aef1-4677-be9f-e3097ade80c5 phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:b1c2f3ad-de43-4963-8cfc-1b3e55d31b50 phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:5d624d5e-c740-49a6-b6cb-7c685ae9edec phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:76e23e70-3cac-4731-bfa6-e86c9ec02d41 phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:6a495e39-e8a7-4d42-9768-7caae4f55e10 phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:2a02ceda-d171-42b0-8662-72d16590e06c phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:e655de15-4b0e-4ea3-85d3-fb7e2599ae01 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:cb6cf56d-9bb8-4b8f-b976-61de73714e01 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:8d93eee8-ca33-47e4-8584-1c1156f66058 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:58dad3bd-4409-4c3e-982e-78679383af24 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:3fdde02b-40a2-47bd-8e12-81dfe6e0996d phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:be3d9f2f-7a0b-420c-91b6-7fd1d2e1e6ce phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:31810356-cd54-410b-91d2-c2548ad85992 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:f992dd1e-9cff-4dd6-9972-f871ea1e9c00 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:cd940429-3019-4612-ae7c-7f5e333ed49c phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:5a6a623b-e0f5-4a2c-9364-13f17674e89b phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27843126 uuid:a608f9b1-07e8-4c36-9951-f88ff69f0d5c phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:5788626d-9217-4d1e-9fdf-94fe00de9094 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:4ccda2ee-e56f-4ad9-9ca6-7d57e610c5fc phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:c76e04a0-939b-4620-bd89-e586d56f008d phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27843126 uuid:a43052a6-1dde-452d-af10-bbe4f2ac8e3f phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_disease OMIM:617146 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:47de2812-35f3-491b-8575-b1412b04d806 phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:has_gene HGNC:26270 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27843126 uuid:eea23ac5-817a-4800-a94f-fbae2deb0d15 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:492be59c-15a8-4be4-937c-f8f28c59df43 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:1e89bd41-3e31-47c5-88cd-4f62f51e1a73 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:af00f017-0385-4b49-8c1d-62cf96628913 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:89f51698-ee8f-491b-9cb8-30b15355cb87 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bb3214ee-c91c-4ddb-97ab-a6191ba31fec phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:880d3030-c84d-4814-b4a7-45c796df5d61 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bacbffac-771d-4f79-88ea-e6f8da63496d phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:d4087a15-7535-4054-bf6b-73dfa0bb3f98 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:a15b8535-1c16-40ac-bfb1-d2ba6b430de8 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:00e587bf-8fd1-44e9-be9a-1dba96f5219e phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0030903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:322e852f-cd13-453a-a0aa-7eee77867aad phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:b1fd3d45-3cc0-486c-8900-099b14d1460b phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0011951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:0bca29a3-d170-4134-a367-7c01ab33143c phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:537cdf78-04c0-47d9-948c-6c050fee0099 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0009085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:574e5810-5c93-47a7-a97a-eacb9b14483d phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:dec4bd27-954f-449f-9665-dffcca85d94b phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:24259288 uuid:d6c55f68-931a-46a3-81e3-0be161e170a4 phenopacket.store:PIGA.PMID_24259288_III_9 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259288 uuid:fe9c9b6c-06fd-4ab1-ba47-56398d0b3a25 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:1c8d70ea-9ed5-4769-bc23-36d258ed0818 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:1ac90ef2-93b0-4fd6-8374-3e8da4941cf0 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:d5220072-aa0d-48df-88b9-075253cc32ed phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:ec1aeb75-d7f8-4e75-b125-039d7a317074 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:f3b562e1-130b-40bf-adfe-c11d1e5d849f phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:b2462905-ee42-4ceb-a29e-7ef908038d8e phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:9d78cfe7-9bdc-4716-bf40-214f28027010 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:c8a18069-2c5f-49f9-a778-89192dbe8b8f phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:85a49975-1fb8-4db2-a7a4-2ca082b5af08 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:d6e0dcd7-2550-4ffd-8716-771cbd63ab19 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:1a0ac8b4-6d60-45b0-bda8-e44fd568c31c phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:3e836b0e-1c89-4055-9442-843ee9e4a5c1 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:4dddda5e-6156-4489-a5d9-ff9cbf95e96c phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:bff89461-543c-444b-9e87-bf67b3ef1760 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:61185ce2-1a89-4ea0-83bf-c3904bf864cd phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:adc4c5d4-e67c-471a-8e2c-c428e9155347 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:7073b490-4c68-4130-a8a2-5adbab4f4992 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:5c58c083-1543-4878-a43b-3894d738bb00 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:d382fc8b-26c3-4937-becd-414995f0330a phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:5db5743d-a077-4820-b97a-bafa34215876 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:79a75a55-b8dd-407c-a2bb-706fd6f9e753 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0004673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:ac348f6d-bcfe-452a-ab76-e154796f1ba7 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:a5552f26-7e56-40aa-ae1c-4a8d591b9433 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:8543dcdf-8d73-4b32-8af2-3d0f9d67d4fc phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:7a527c69-0b62-49a4-9717-55063cdb1e82 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:241c6592-589d-44c9-b171-0848d6efbd59 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:9138c97a-dd10-4225-9821-b7d021ab0b7f phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:89387ec1-a6b3-4145-a6ed-afb56affeb6c phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:4a41a698-7cbb-4968-b310-c779b15fbde1 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0100538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:2807935a-ee5d-43ee-b8dc-9ff0d4f999fb phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:806e53be-b199-461d-a8cc-6c095de216ed phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:bb6482d1-fbaa-4d23-bca4-2b3212d6aece phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002835 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:c77cc7ff-fe50-4587-b26f-afa20884c9be phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:be6f9f32-9562-47c6-aca2-c3d9affc3593 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0004308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:8db715a2-7ec4-4da8-83d5-2aaf28a6d193 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:189e67c8-0ecf-4cee-96a6-8cf9132cc56f phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:b3781787-2e2d-4f1e-8f8f-71719d401a9b phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0004446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:b3615591-7d5f-4ceb-89bc-b77e48994c43 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0006994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:6c9a8eaf-fce6-4bd3-98eb-5aa089af7e3d phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:e870bafd-8cf6-4a55-ac2b-d9ca1790b35f phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:cf508357-dea8-4489-a74a-fc2d923b3898 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0007370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:20999a68-259a-48b0-bc89-3d2b636f755a phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:19131c5b-a169-4f44-8e0e-6e0aa717dd5e phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0000556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:d6bfdc29-24ff-4a10-a5b1-1bd909566ce4 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0001103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:93207876-35ec-4cce-bb5a-28251b249c7a phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_phenotype HP:0031145 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25885527 uuid:dc74ffac-8c61-4615-a0e6-f56e19695377 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25885527 uuid:c63f8b6d-e3a0-420d-bd68-d2c8dd62a3b9 phenopacket.store:PIGA.PMID_25885527_II_2 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25885527 uuid:9d98ac31-1f91-47b8-840f-540cf3f9615e phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:43070a2e-fd45-4427-913a-e60e707e6ce3 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:588e8f01-7b90-4e57-8e98-826c45efdd19 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:51fe926f-c1c4-4000-b661-f5aab3112cfb phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:5ef44b8f-b8e1-47a7-ba57-167959eb7bca phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:aea98d02-40ed-4d96-aa99-250f9b43a078 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:4483c463-9f2e-4859-8e38-aead59c1910a phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:6e78ec5a-d2f6-4198-a772-30f362162235 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:6e4e773a-5c9f-44df-ac5c-b441d7729670 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:963a305e-de2b-4b0f-8aea-3b54a5193a01 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:2c844921-9684-44f0-81e9-0b724d4d1e25 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:163c63f6-1642-4257-bded-00fd70a9c433 phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:ac2b4fa4-8899-49cd-8eac-8a5849c35500 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:9f3dfe35-9cce-4cdf-8ed8-46e812d8ce9f phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:c0a8df1e-2ff9-4784-8a9f-80ef090220aa phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:610f5bc3-64be-495b-a9ad-e7ea14f76612 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:22c4251e-97b9-4dfa-bd40-991e2a925a1b phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:55152b8d-e21c-4ed8-9ba4-f680d760f21d phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:8e8696ea-47df-494c-80b1-61c5bdaf38ea phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:247a2aab-5195-4be7-b5c5-310d13f6ccb9 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:1dded131-3f54-403b-9536-614f15e5cdd6 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:fd0b75e8-a55f-4adc-8d1f-4628a3ae3af4 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0025404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:2e0772f1-d98f-463c-9cba-0c1a8152535c phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:51f25475-50a4-47d0-b094-fbef0c730571 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:0a0ed7a7-5945-4604-8c3c-ef19aa67bc77 phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29502866 uuid:4f69c67d-c17a-4da5-9980-67a63793430b phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29502866 uuid:f164b2cd-6593-4e3b-aa4e-7add0469617e phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:34875027 uuid:b105aee0-cf32-4941-b723-175f4a60446d phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0031876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:3b0c857e-652b-4dbb-bc32-3e9f05466cfd phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0012463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:6d652368-6060-4acc-9d0c-c5cda87387c6 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0003452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:2200185d-6ad2-4f2d-b7f6-0255470c598d phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:24a06c87-559c-4626-a3c0-8292217e85e5 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:aab773df-88ab-49ae-ac2a-4a26fa252c03 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:d7a259c1-e9aa-44cf-a771-0608cc6f45a4 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:9d37bc84-c84d-4a4c-95a5-8e08a28a7884 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:b93e1198-ee7c-4cc6-86fd-c3aea4af54f8 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:ba56b6fd-589b-4b98-9831-a0790a530452 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:84ee851e-91c3-4dbf-a56b-c6cc8a53306f phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:81cbc0d2-1672-407e-983c-5a22f77e170f phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:5de0e3d7-b069-4285-8bac-f6794cb56565 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:fa8ecd27-238c-4373-99ae-0e0a555976d7 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:779f9186-a78d-4480-83e0-63521ffc7777 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:badf65d1-ee2b-4de2-87e6-51ea50aca209 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:fe4d4cff-54d1-4712-b3dd-9abf5013aed4 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:83fda16a-33aa-4501-a5ab-e4fc0b623342 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:7ecb6031-3234-47cf-b2e4-c1e3137911ba phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:384f282f-b754-49d2-bd2d-594d159f7bf4 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:6a290eb8-76c3-4666-a7e9-d15953c38b8c phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:e2222c2e-0ee3-4735-8e5b-01179a2372d2 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:bea6f6a8-a656-4211-abcb-d28a8830f539 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:6cdc1de1-8d75-4ba4-8e17-3bfe35089a24 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:00926a6f-40b1-47d3-9307-f82aaadfca0d phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:9a30e67b-12ce-430f-b9f7-f15c26158bc9 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:f85eef6e-e794-42ea-8a29-97d6185bf8cd phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:faaffc72-62d5-4d79-b63b-f615a27b41f6 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:6fb157e9-40f4-458f-8d09-267977332161 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:436109dc-b631-4fd8-97d9-257fa7754897 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:b33be0d0-dc41-4649-b315-c2a39a995c1b phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:567295a7-0141-43f6-b2ae-24787bc29e4a phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:40edb299-5996-4e74-afda-08c34faf5be1 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:a838e02b-eef3-438b-881f-93f2fb4ec527 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:7cbe65f2-6e30-42bd-8356-3303bde6b324 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:145b805f-7177-4350-902e-96b61cdf00f2 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:a5948168-f4ab-4ba4-9ad7-f2bc3dae74c4 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:b2214009-40c6-49a0-b68b-ed2dc0f5338e phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:fda5cb31-290b-4279-80a8-0448ac6956f5 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:3579547f-b8f1-48de-a6d3-a5de9bfe1118 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:f6c5f36c-9ebd-44f9-b42d-3550edfe7ba1 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_disease OMIM:301072 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:34875027 uuid:7ad0265f-2733-47b8-bbf3-36eb187de8c8 phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34875027 uuid:0bb5e5f8-1c69-473c-8c2e-6cbcf478c02f phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:7864e98a-b8b9-4ab0-be03-870bc0a5a714 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:cf89e9d2-f144-48c0-aeed-bf3a8081f765 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:2ac52527-c20e-4f07-be9d-d1998f25e281 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:0ef9f807-1e0b-4ab6-a8a5-0184ed13794b phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:67731aeb-2468-465c-bcb7-93ffc703f767 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:50f999af-2180-4c3b-9e78-0c1b88512cb1 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:b04d81dd-aed7-46ed-8588-b0375f713d28 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0001367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:0d12eb83-e8be-4144-913a-7d11fc6a957e phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:ed213aae-be1a-4e2f-b06f-a9e1df176ce0 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:7ce0c8a0-6cc5-4c54-81ff-27be360e76b5 phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:ae9b0ffd-d30d-45ff-91b6-ff68d9be415b phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:7727cab5-ada0-4082-b063-0b052581cdf0 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24259288 uuid:88842630-d836-4690-8be2-aeea59d651c8 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24259288 uuid:2358cc93-74cb-4a96-acde-97b90886ab4b phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24259288 uuid:b0778af4-7483-45ce-a24b-5d37471bd1b1 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24259288 uuid:41e6b1c3-1d54-48d7-9ed2-09701e26eb1b phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24259288 uuid:99d17b01-6b1e-493a-883b-5a50343855ce phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24259288 uuid:74611015-772d-478e-b9e6-7c5caf132e70 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24259288 uuid:781c1513-6bf6-43ee-82e8-a25d3d33c20a phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:24259288 uuid:9dff874c-ecf7-4b40-9b6c-bf5fa165fc47 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:24259288 uuid:64496a1a-ffe8-40f2-855a-48cfaa16bbb7 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:24259288 uuid:c9530341-f872-45f8-b5c6-fa13702eafb1 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:24259288 uuid:f51d919a-c5fa-42cc-830b-4ff393823c58 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:24259288 uuid:241b27dc-330e-4f7d-bdeb-b99b84136d8a phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:24259288 uuid:36beb77a-1697-40ac-8eda-b7b8523e46fc phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:24259288 uuid:51699302-00ee-4d5d-8419-62bc08412b0c phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:24259288 uuid:a90801e8-60e9-471e-9d21-ed41844dfc39 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:9921c5a3-d3d3-461a-8016-0b86e408ad94 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:b888b8fd-15b7-482a-9b21-bad685c69282 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:4b9951b5-82bb-4f2f-b843-eed8d0013642 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:d20aec42-2f4d-4857-9a25-30df59c4033f phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:2fc8473e-59a4-40b3-a623-223118dfd2f0 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:99a4ebf6-a574-49b1-96d8-000d86f57bd0 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0500200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:c13667c6-14bc-4c05-8d1d-2ed6542dd93c phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:ad9e5985-88ea-40b2-9f68-656ca5b82bef phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:d4c5699f-c24e-42fb-8ae1-b562b1ae5ee5 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0012465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:0e9579fb-11f9-4a11-97fa-b259b4763697 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:756fcd2d-63c0-4add-91c5-bc4244609363 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:09338868-abf4-4133-a39d-db3dbedeea92 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:e21429c5-3ec0-44a7-9618-06c1e1cce571 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:950acd64-1f3e-4387-a72c-59c3a7acf3b3 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:5cb720af-c00e-42ee-9b6e-e37aef29caa7 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:1ca7cfa8-4c74-4fde-a4d6-8823e0f93156 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:adfe56f9-6521-4ef7-9a06-ebe81fefd97a phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:f0ba05d4-594c-4651-9065-cf1e02b0b26b phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:41d45eb0-c937-4b1d-8719-fa023029eb32 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:d4e6b1eb-6b29-40c1-9c0e-4a72b298816d phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:fc286ddf-6197-4269-abb2-a8b358f5d498 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:ab16bd55-3430-4a51-acdb-1768c660d051 phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_disease OMIM:301072 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:24259288 uuid:ecd4c099-154f-4ef6-8a9f-96189d88b91a phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259288 uuid:ff17bc5d-85d8-45b9-a6ca-ddf0ef9827f3 phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24357517 uuid:41ac6320-ca77-4d09-8ad3-14820528cc02 phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:24357517 uuid:0cae0119-8410-474f-b52f-187ef4c3e8f6 phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:24357517 uuid:d2769d8b-8f9b-48a8-a3fc-987a86c2b779 phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:30d5eb48-6fcf-4fe1-9e4c-d4438cdd240a phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:6b46199e-e3f9-424a-af83-b598186dcd73 phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:820a7b3e-9abd-467c-95c8-0f45bdb1c4ef phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:5a3a7633-da4c-41fe-b101-db1eb2285397 phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:24357517 uuid:37c25752-87c7-4c4f-a3c6-ad92197fa08d phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24357517 uuid:17db951e-f751-40f9-806d-21745efcfea6 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:d6108ba9-2059-4daa-b64e-9778bfc617fa phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:535b2223-ed3e-4fe7-b322-c6b9dbc3ca68 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:ae4a6731-c9e4-4116-8bd9-0633e0a521c6 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:87328fab-b670-4551-8457-331a17901ebd phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:e5b41b60-1790-42e6-b068-251fa92f1d97 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:62462188-069d-4f1b-a0b5-4bb48b42723b phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0001367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:09e7d385-5a5a-4fbc-a45b-fc29c234d409 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:0d1078cb-6dc1-4aaf-a308-618e2595e113 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:ef32ebf0-2c89-4201-bdae-53ed3a228913 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:b7bc44a1-c24c-4549-a907-e839047e580f phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:036e6ae5-c8be-4697-b792-08901635d105 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:6551297f-1a23-486d-931a-c8e6c2e07be0 phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:9b455219-89ca-45b4-bd1e-32dea00d97c3 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:95c98e1a-c102-4208-a949-a45bf82372c7 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:d1cb42ec-9474-411b-a767-3483b48d4053 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:7570f880-d315-41f9-81b4-2eb7448e3fa9 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:0c6ad7fb-8f18-4ee7-a096-a5b9c85f490a phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:1071841c-b824-4ff5-8292-826fc2eba71d phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:2aba01d5-3e29-473d-9cfc-ed2f3ff56781 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:f4c0a462-75a4-4dc9-9656-255012f80092 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:5bd612f7-bb81-45dc-b635-e627301ac016 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:002dc9f7-6cb8-48bd-9e91-2cc15f436c58 phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:c5be402a-7c65-4fe7-990c-1c6c6c60648b phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_phenotype HP:0001367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:989e1ee0-cb93-420f-b6b7-00fba732441d phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:706770a2-8059-46be-ae3c-1caf7b9be23e phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:a5af77ea-cf88-4191-8d24-02e72babb8f1 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:34875027 uuid:92ac9dab-a4b1-4cdb-8642-fa5edbad232c phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:58c3cc64-be12-4bb3-aa1b-2d118e2de0f4 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:edd8110a-ca50-4daa-b0a0-f02fa9ce8605 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:4e8daede-f281-4292-8aac-052ad33c4acf phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:bee3287b-9bb4-4c87-97b8-eb94e2168de4 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0031876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:22ce163a-7d3b-4fdc-b88d-24609855fb35 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0012463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:4c02c341-4481-43a1-a6f0-0bfa790ed7c3 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0003452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:bc99ce21-6193-4a94-99f5-26390681169a phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:d160a55d-24be-4760-9fbd-cc9287e3bea0 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:b99def44-45b1-4e52-ada5-ab7425801259 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:147b8226-45ee-4fa3-b632-3a61bb65b554 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:dc503a0b-ca6a-4e0c-b030-9c2898a68483 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:8327c47a-9596-49a9-a584-b3878429b96a phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:7b7833b3-1426-4c95-a1ba-c3cc27da56ff phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:9e8db800-06f1-4128-9d85-53b9619b40ac phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:17396ae5-5652-418c-892f-69ed77330133 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:401063f9-4386-424f-a970-1a3f445a4880 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:07223cd7-53ea-4736-b6f3-4f5f48090cdc phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:79967f52-b26a-4c4d-bfa5-0081eb7fbf1a phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:55c726a8-74b1-4075-b42c-f6728d0f825e phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:55388116-5e06-4291-b205-310cf704da4a phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:b772ebfd-18f3-40c8-805e-de9418342a77 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:c1525c53-18d1-478f-9057-02263afeb00f phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:569389c3-aa7a-4bd5-858b-53b5fe9368d1 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:835e679d-a714-45e3-8b6d-b7bb236af188 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:1410f1ff-c83c-4a08-bfc0-eba6eb0268bc phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:2e6a4859-988c-48dd-bb78-830c4f63c8ff phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:9e50c822-064a-4bbb-9031-f43040d57de3 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:32f866a4-6ae6-4edd-a718-3e0c2a579db4 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:61fc37c2-91eb-40b3-91d0-0052311d50df phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:34d59f63-30e6-4ba4-85c5-aed6346a2456 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:c9090602-c9a7-4215-830e-9d38b9d275d7 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:071e73a3-c1ea-40ac-bf6b-b04b03799cfa phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:35fffc3d-87f1-4766-9eae-969b0c83c753 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:d79e50bc-4899-47a0-bb6c-9fcc9a89d264 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:837c0f8f-b577-486e-a997-572205aa8307 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:50b482fa-5ed5-49ed-a856-b54a6b705963 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:7b4a3561-14ad-4e0b-8830-5d5a7bad878c phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:c3e72007-f8c0-4baa-9e7c-7d003c0e0477 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:14315dd5-a306-403e-b90f-d3b3d60bc08e phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:345bb083-c9b2-4731-af56-cfc4e0730e1f phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_disease OMIM:301072 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:34875027 uuid:35489f15-812e-4eba-93f2-877bf4a870e7 phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34875027 uuid:6a0f0658-42b6-47a9-be8b-32ccc0476bb5 phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:24357517 uuid:fe5b5231-15c1-46a9-8cb9-09d094fd4050 phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:24357517 uuid:425ec2bc-433a-42cf-abee-5531ab6f3634 phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:171d9628-c6c4-4f1d-ba8c-af19226fe78b phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:9b762c3d-ff76-49ae-ad2b-a2019a3181e3 phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:ac57502e-4464-49db-824c-90497ac62115 phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:24357517 uuid:12117ecb-d74a-4cd3-8445-f6c0158f6d50 phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24357517 uuid:a67262da-2ac6-4ee5-9def-222554c5865a phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24259288 uuid:cbe22747-1c00-4f8e-9129-f76edab9b9be phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24259288 uuid:b67c03e5-4611-463f-835c-3e1b4a78985b phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24259288 uuid:5a00b1c9-7148-46bf-9228-19c334e9d111 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:24259288 uuid:c07e1c8e-536e-4613-8280-9e3808c5f990 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:24259288 uuid:9a6b3ece-e9e2-4855-952c-33f72114e4e7 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:24259288 uuid:6b745bf2-e8ab-4917-84d7-da4e7d829730 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:24259288 uuid:0af837ee-8cfb-4a3e-ac31-dc79735f9300 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:24259288 uuid:cc1190df-3a98-4763-8d81-fa57017cd81f phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:24259288 uuid:bb7a8086-0812-48cc-bf90-89e4a6bb843a phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:24259288 uuid:3073cb9b-aef4-4c3d-a4cd-c22d3efa586d phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:24259288 uuid:03551aff-9d2e-4a21-963f-383330b2b724 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:24259288 uuid:2855c074-7a59-41e1-a15c-379282c23fbf phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:24259288 uuid:7dbf2d16-1342-4754-bd2d-7fe606ecd340 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:dcf26c32-1f9f-4a5d-9f3a-fad7af60b54c phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:81c76367-4a1d-411d-a926-c585337670f1 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:40fb7f2b-e774-4eed-8cd3-00d480b7260c phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:da82dd34-60d2-4094-b954-e560eb24586c phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:f4d6d47f-3b61-45b1-882b-825ccc7e35ca phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:06a7171e-0bc3-4093-a051-4225549996b4 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:de1c636f-9f81-4841-82da-5b9bf6b25070 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:b4a0e26e-6e9e-4bea-a2f9-cb8911ff6205 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:e4d6a730-2050-475c-85fd-d614da8c54f8 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:cedaa45d-6dd0-498a-a9f4-35667a159642 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:4ea94979-8b3e-48d3-8de2-438a54030e3a phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:05a09fa9-7f70-4812-9222-829d4081917b phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:177b0a35-27f4-403b-b19c-651963af3c42 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:b7f7f5f6-a87c-4df0-bd48-807e5b588cc9 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:5c1cfb73-713c-454e-adbd-f886d176317b phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:bebf9ebf-8841-4bc6-b99c-e671d6fc5322 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:65f817ca-8d87-4972-a8e8-5e3155f42a3d phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:e76e734b-f491-442f-980c-299994cfde8b phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:2285200e-fb38-49c4-9f4c-ba75e322127d phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:1776241f-7cd2-46a7-b1d7-0077fbdc87c6 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:179df73e-d4ec-4896-9232-0a8b28158bfb phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:f3521ca3-a2eb-4a65-b25e-a2a5b557043f phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_disease OMIM:301072 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:24259288 uuid:b850dbe5-8cd7-4de8-80d0-593ed4bf0d63 phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259288 uuid:43398250-b05f-4075-9058-a3470dead75b phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:2ae7ebbe-a095-4126-bf52-58535bebce13 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:8581af90-b04d-400a-a284-e9f97672603a phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:fbe02959-e6b9-4f82-97bf-ad80276a43ba phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:456eca25-dbc4-4577-956c-0e127bf16ca7 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:8ffc9af1-567a-4aa3-a209-6444ea330ffc phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:9fa821cb-f03c-460d-a683-856edb458ef7 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0002139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:6a64c7e3-1785-43c3-b848-e4b21a1cd7f9 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:5a47a7c5-5c8d-43dd-9eae-f3b033278371 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:9df72025-4355-4062-99e6-0e59f1a4a16a phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:3414168d-731d-480c-8f00-e2065046b85a phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:2ee9d657-e362-4cf9-882c-e540034cd7e8 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:24c53837-a3a2-461e-92f6-5f0fd6d8d97c phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0025116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:b557ea62-0058-42cd-acd3-6e37d1a6c4c8 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:9bacd4d2-d341-42e3-bebc-82453a0aa10f phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:b69ad165-9cd5-470a-96f5-eba14e5cf2f8 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:13e5723d-d322-4049-8eba-71af4cb23256 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22305531 uuid:f9dc63f5-c45b-4777-addd-b2909bb65aae phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22305531 uuid:5593e6b4-51ed-4970-a400-575410ea1cd7 phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22305531 uuid:17bf04b7-3bf1-4e64-befb-c11323376909 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:34875027 uuid:b56544f9-92ae-4dbd-bb4f-6cdddd3a15ec phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:449e9f9b-8bd3-495c-afa2-43e2fb0129a6 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:d142b8b8-259a-4cc2-9fe6-e9da9a75561d phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:b9698874-c6ff-41f7-b2dc-21dc715d7990 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:62c0e747-4f9d-4713-89ec-90d73472f2b8 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0031876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:debc578d-6322-40ed-b71e-659a6a198a2d phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0012463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:995e07af-c641-48e0-8dab-4ffd44aed5b6 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0003452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:2cdca8e2-a127-44e2-ab67-b3464cda194e phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:26375378-e2de-4076-9160-e63a89462f92 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34875027 uuid:7bddc818-e290-44bd-8f2e-7c089b402c7c phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:a79a66b6-9b21-4bf4-87e9-7137871d196a phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:b6f3dc48-53ac-4ecb-a078-ce8c5e1f8a99 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:a349f1ff-5918-4c97-8159-60378c6bc7bb phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:f31db3b5-cfe9-493a-a7e5-02c7999337a9 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:0c974f53-4dfe-4969-a3e4-41ceb5be7dbc phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:9ffb5133-5b96-4e4c-aae2-7e72c6fe4b2b phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:0d569c82-95d0-46bf-9746-323d58a2a261 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:310776cb-317a-41f3-9633-82fbf27760c4 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:ff0e9b6e-4dcc-4345-a017-5f8c976638b3 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:bc1df092-4038-498c-beec-27c8051b5504 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:ff721cfd-b664-45a4-9889-44e29aea1b9f phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:686d061a-2c18-4ec2-bfc6-13e90b308196 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:23d13e53-0127-4e55-afa4-a9be3846bdbf phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:e3124416-4301-48dd-8662-07caac7e36f5 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:e5bd1835-0f30-4916-90a8-03ee4fcf3ed9 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:002e11a4-cbf1-455c-aaee-671e1bfbdfe2 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:ed443fe9-b182-47ef-9a1f-0cb182d90777 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:8027bbdb-7ae3-4ca7-b698-ce204f2c4deb phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:6b34758d-1a17-49c9-8c69-dfb578c308b5 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:6b0e4069-31e1-4170-8e35-8e02c211d7d7 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:f400eb34-e496-469c-a284-dae0f76ce9cc phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:ecb8afc5-9e0a-45b3-b47d-1a4eb42ae182 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:90277d05-58ba-4665-8659-04989d25db44 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:f7e970ce-d22c-488b-afa1-d11bd82d3b1f phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:431a2772-b635-4f64-b653-e3b234de7490 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:019521ef-6e05-4649-85eb-85a76b2d8e08 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:f545db37-f221-49a0-8f1c-9cc95384e150 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:255ee1c9-3408-4341-9a7a-3764267f28e0 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:903c6384-3e66-4539-8ce4-5e74436f04b2 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:0e92eae9-ea74-40d2-bf67-81441d390d91 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34875027 uuid:94e8c0ef-eb68-41d5-baf4-8c1d23e070d3 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_disease OMIM:301072 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:34875027 uuid:ecc89c36-4e7b-41b4-887f-a0eac4587c24 phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34875027 uuid:bf81161c-6b22-4dfb-8353-7c678d4bf79f phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:35e15cc8-1c44-42df-9a9b-2024a90ff4ae phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:2f6dd88f-f099-4fb4-9042-2c197752d2b4 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:83047b64-7111-4c52-9759-6c2c1342cae0 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:6abdd4dd-99e4-4135-b3f4-7f5bc628f3bd phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:0ca8c86e-fa85-4b69-8272-7f69e45d67e3 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:fd5d7949-7016-424f-a063-b37c03626399 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:750f6cc4-3fac-4139-b956-5e479294cf09 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:c57fa31a-2ea2-4234-b9e6-591bff5b848e phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:dc69fffa-9ede-4709-826f-4437f8e909d9 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:79cedc5c-96f8-4370-8a39-011e3073712d phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:b016225c-3f1e-4eb3-9b6e-0cdbbcf75df6 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:a1b19f9c-c928-4597-bfe9-50717e680ff5 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:77b72e13-5fb0-48be-b0ed-e3a3924d5272 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:dd852894-5461-4dd7-8a23-a6199ed89234 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:048a5516-5f91-4b6e-9e77-3b4fefad6291 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bfe79b2f-af14-42bc-8ea0-b6feeb542a2a phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_phenotype HP:0040130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:0aec10f0-3ea2-4a17-b654-99f96336354b phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:24259288 uuid:28518f47-3cf4-4ed0-af28-cdcd4207b497 phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259288 uuid:016b2a1c-5158-430e-8ae3-f4b8dee7ec54 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:9e398ff3-84f1-443f-acb1-88d53528fc56 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:55cff3ee-9162-409c-bd3a-c66369f1eee2 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:f89d9aba-47ad-4b50-b631-b2e2847045e6 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:aff624e4-b5a2-46c8-9617-ad3fb27fcc18 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:682f7c4c-fb7e-4760-bec9-38318cc18939 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0003700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:24259288 uuid:f4841f36-d4a9-4b0b-af23-f3fd94142e85 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:24259288 uuid:5a40fa89-eb36-4041-9ee0-c0f0fe52aa7e phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:24259288 uuid:a948e5f5-2fb1-48d2-b820-8df5ca63d687 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24259288 uuid:3a097c6e-9337-4c56-8f84-0322a1577786 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24259288 uuid:e60e098a-c7cb-46e5-87fc-238aa5cdf272 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:244d2630-92e3-4ef9-bac7-4ba4fb3af47a phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:66254712-0010-43f3-8ec6-5248ded66831 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:2ea5d72e-fd76-44a6-8dc0-56ea22f16f56 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:a4f7290b-661c-41b4-881f-fc566c9671cd phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:954a4cc4-d2f5-403c-b540-756835d9e74b phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:5b8c645f-9142-43d3-b98d-731c93bc9de9 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:b65697d2-a365-4453-be79-66bc2a1c61e8 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:dce493f5-de86-4973-a9cd-85c3d6b6d425 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:504e12fe-26fd-4f8e-9d9f-f049a991e786 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0012463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:58fb1747-b895-4399-a8c5-6161817ee26e phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0003452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:6e4fdb1b-6bfc-4fcb-b1e4-8f24b2deec4a phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:40b22b2f-e2dc-49ca-8dc0-c295da8997d8 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:d48b9f07-c886-4bb3-85b3-14fc07c23240 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:eb25d516-9e7b-4adb-9248-4e1128e63f5c phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:ba5bc78e-3021-40af-9946-fecee08a6315 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:b68d80ea-a1e9-41d7-a586-06e9d1393df3 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:2952f201-0148-4bca-b4c9-eeac37eb1068 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:4e4532f9-c97c-425f-a483-ed6e36e6dd7a phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:30c67198-f3f8-4836-8fb9-948293d43d48 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:e711e672-272a-4c1e-9884-550b5bb07f83 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:76628dba-e669-45ff-8505-862adea2abeb phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:66ac7632-d687-4975-88cc-40e5d7fdd2f8 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:6e6f6b64-857a-46f7-b4a1-3f71f14f3a27 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:139cf5e8-5692-45cb-9fd8-4fbc8748a028 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:7fcc74d0-a61a-4d74-858f-992148bc9479 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:0ec86775-0d2c-443e-bdda-308ebe7cfc94 phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:6a095dcf-56dd-4c31-b7d9-2e4f9916168d phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:677d3b8c-35e0-4412-8ea7-892d45816a7c phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24259288 uuid:05ae2d77-5245-40c6-8b07-72ec210022ad phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_disease OMIM:301072 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:24259288 uuid:1cbacab0-ec10-4ce6-9fc3-5b08ad1215ea phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259288 uuid:b668c394-82b6-46e1-b47b-ec401f8c8e73 phenopacket.store:PIGA.PMID_24706016_individual_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:b4a8016d-08de-4001-aed3-6c836e56f78e phenopacket.store:PIGA.PMID_24706016_individual_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:170a1467-580a-48e4-bbce-0a6b78834c29 phenopacket.store:PIGA.PMID_24706016_individual_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:d1914af3-241d-47c5-acdc-312e257216fb phenopacket.store:PIGA.PMID_24706016_individual_3 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:6178ee04-e7cd-434d-822d-c23cd61a6b9d phenopacket.store:PIGA.PMID_24706016_individual_3 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:12ff3921-6d7a-4fa9-8c75-1b36996f9d70 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:0d7e1167-2946-439c-a4e1-3050be0f04d5 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:ead578cf-5b7e-412c-b70b-3a8a3eaa8803 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:3d0df298-bb62-4612-8e05-193e472f0960 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:a06e28dc-3852-4688-881c-216510c612c5 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:7aa75e65-c982-4f53-99f5-4298b1fbbbc6 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:3c71fc55-691b-4b35-962e-6e1c280afd14 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:28f43bc0-fdd6-4cc7-a486-4cab3df17db4 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:5a58878e-c40e-4249-ade1-227002d80fb0 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:7f90ac79-cedf-4eb7-98a1-405cb7f8f31e phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:ab74774f-1179-41cc-b95b-546907722794 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:4bf13515-473e-4f47-8645-a061d0772421 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:da5998b2-1192-4147-ad0b-cd2469132885 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:6853110b-3026-4043-83d6-7ed798b46328 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:3c982bf9-9644-4c19-86df-193f7617f2a2 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:4eb3b40b-c153-4610-a8f3-9b8dd5793c5b phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0003273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:abbe9832-1725-49e1-a994-010be08b2fdd phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:0eee81eb-0924-415a-97f3-c1e944065123 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:f9e1a492-15c2-4757-9fa9-95b2a7998877 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0009381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:de4a4f79-6c17-4a6f-b26a-607beaba8118 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:361c5ff1-7655-41d3-9118-f61acc966177 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:d4b7cc1b-4a2d-42ce-9212-5928960eae0a phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:355895f1-2cd6-48df-b2aa-70cf2e4238bd phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:423714e4-bcb4-4db9-a7d3-40c940c1d098 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0002987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:a8180b79-636f-4acf-b23b-b84970ea5047 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:235a4322-c6ca-418f-97d6-ac2bbd975501 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:da98460e-2d7e-406a-a71e-a90a7b0ea046 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:62f8872e-379f-42c2-a6e9-59aa542aea04 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:547e3089-c8dc-459e-9598-063a73727a9d phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:15b38ab7-5013-4697-8d42-1236eb33af61 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0000081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22305531 uuid:d3ebae60-cb45-4ba3-bc11-2c6c27aef7bc phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22305531 uuid:0b7fb2ff-c811-4ba5-ad8d-10cc3f64c771 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22305531 uuid:af80a55d-9099-4eab-b877-31b449701cc3 phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22305531 uuid:9426c535-1088-4c22-9bed-b1d4fb282d8f phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:24357517 uuid:d808471c-e761-4d3c-b90b-a7810108b8d7 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:24357517 uuid:43a7875a-910e-4b0b-9dd5-8acb23e11de3 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:24357517 uuid:e4eb59d5-7ea5-40d7-8d93-175fe1d3a32b phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:32fbb7c2-61fa-4af4-91ea-a26e83db087b phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:33ae0218-507d-416b-be98-820c7a6d088c phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:989b195b-0383-4447-bc01-cd3f1f0efb55 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:55538dd0-9125-4d25-a38c-b9c7af378cfe phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:4456c237-81b7-49b7-9852-59af3481fbca phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:67c1f9c3-b1db-41c1-bf38-78563048a31a phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:42b9261c-d505-4c32-a90b-27e0b0a840c1 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:77075204-35e7-44c6-9a08-51bd35062b99 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:b729fb9c-d66b-4c7f-9ecb-e4558531478a phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:7d43cb6b-c81e-469b-bf2d-3083349a6a50 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:24357517 uuid:093b43df-d0bc-4f6b-bfa0-f6e47a4e03f8 phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24357517 uuid:5378ff68-e649-4dfa-9f87-e8897097a4ad phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:65365488-c672-4a79-8590-bd0cd65a8c01 phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:5e915d16-ec36-46e7-ab61-377bf245fda0 phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:84a70a63-a5e6-4c16-93e6-c40359de98f8 phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:b44f093b-7ca8-4e51-9d66-44a2b5957c1f phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:31a92634-fac9-4c23-9f5d-d37c18054234 phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:bed234cd-737f-4879-9473-e368d5eb5d0d phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:c6ff3c9c-79b0-4bc7-8444-cab536672129 phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:9d123d9c-4905-4783-9222-f959dcbb2b3b phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:ce410fdf-08f4-48f2-8ff1-9d0624dfe5a1 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:95d80ffe-b12d-4a43-b50a-3a8b2889b756 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:5ceecccd-4759-4026-8ff3-fdd5a77a9f57 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:458775c8-9a1f-47ae-8bb9-3333524a67f6 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:a4df6137-67ec-49b3-bc0d-1c00f2c02929 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:9e7b9117-ae9b-429c-9551-d1d543196a26 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:b1ee000b-f120-4ee7-88f8-3bd940c07f09 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:5ba48bdb-879f-4dfe-848f-cba6fc304233 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24706016 uuid:e13a8383-8cc1-4001-ab9f-1fefa537b3ce phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:d4de433b-8344-490e-868c-9d7b51a8fb97 phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24706016 uuid:f1d9cc26-a222-4f0b-8796-5dce6a5e6712 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:82665f13-aa19-4953-ac4b-d11455ca6e6b phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:bd504df1-226a-451b-b685-a6a8f8cf6fb9 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:6a30ae69-3216-4b8f-8fbe-bb3c202c42fd phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:766125aa-9b3f-4e71-87a3-73e303c2f3da phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:29d8ac38-f27e-41da-a684-870f0fb26dd6 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:abad0e6c-a830-4190-bda5-de1f7eb53df5 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:52336681-2d8a-4f54-b8c2-73ef6ca2fa82 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:51d4b06d-9bf7-4e89-a720-39d52f1ad2ba phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:d284fa7a-46b7-42c6-97bf-0a68c27a894d phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:82f3f3ec-d89f-44c8-bde3-ae41d53f9c7c phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0025404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:60f86185-e39e-4cbe-aca3-2274858f64e1 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:6798952e-6a51-41f4-b70f-38da2ccd9df7 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:6cf64cb1-58af-473f-807e-d9c6dedf785a phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_phenotype HP:0011168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29502866 uuid:f7a36214-8e39-4938-9164-6cdc52e4fa9f phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29502866 uuid:f4b01574-f6c3-408c-ae03-4d0d5a136398 phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29502866 uuid:64cf6405-ec21-4131-800c-c85f1c110889 phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:24357517 uuid:0363bf74-2609-4fbd-8248-5c008ca3dd2b phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:24357517 uuid:a1cf8bf9-62c3-48f3-bdb5-0e6f5beed81c phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:81127aa0-7ae7-4766-ba74-e2fb61a17126 phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:b2f41db9-c62c-4b9c-8037-0f984fd70040 phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:abbbb39f-b4d8-43ed-8dfd-97b94e46cdf2 phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:cdd13bcd-06f5-43ea-8024-1871c86c6352 phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:541db79e-023c-44aa-b24f-0c63d64d167f phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:24357517 uuid:95797b5c-0c62-4b33-a221-56762fe78d9b phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24357517 uuid:8da040cb-5ec5-421c-a11b-8e4fef33c647 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:24259288 uuid:56c4c9f9-3558-4a3a-bd8f-95da5424c86c phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bd6c008f-5a32-49ed-9a45-a79c72c51993 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:03c61614-3eee-4c81-8320-cbd80ef7ef16 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bb08dec3-a961-44bc-afae-fe40aa108e4a phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:a6815996-729f-4465-b5ae-27ee0f7e637e phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:4921f1ef-1f98-49b0-b40f-64f198d914dd phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:730c2ab5-2507-4a6d-8290-71f32d777fb7 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:380277b4-2e70-47d6-94a6-bedbff736dde phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0040134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:c5582bdf-da2b-459b-8bfe-fdb4a1f0a256 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:1f582576-3fe4-4841-9a76-3a2ccbdf018b phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:ee55189c-c27a-40ee-b972-86f679d80f80 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:6c0beb85-1329-4fb8-9083-48fe056d6d7f phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0012103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:4f63f712-f323-4267-94cc-3d7adaf48819 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bde4e8a7-d3ea-4070-9323-83cbd05c1b64 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:22949f77-139c-4486-945a-58694a3b6a59 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0007190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:ea0c4ea3-f237-4a6a-bd93-e83b77315c51 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0200034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:c1e7941d-50ab-4164-8065-50bc873da7ad phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:8f2e0f41-3024-4786-8d45-52f9b9ec12e4 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:6d22a900-0fe1-4d6c-8a07-dad407e53c52 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0011952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:e4925d18-ef2c-46b3-8af1-7afcccb61a63 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:3d7cbbe4-c9e1-4933-95a6-f20db7be2f0b phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:27a40d64-9e48-4359-9834-37b6250d68ef phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:66ff45ee-57bb-4cda-9d3c-32b369e8dec7 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:d1902c88-7463-4d9d-9c30-be6d8c6b5670 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:7b32b758-a384-4b28-8671-e32941a89680 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:1eee5a74-c819-4bc5-9b61-0cc9aab78be7 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bb1d245a-26cc-4fe7-a4f4-d88aceaee5c1 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:9e2344f3-5192-48ac-96b1-bd23967f831a phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:53c67c5b-ee81-4bdb-8a77-fa6531d9827d phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:282e4d79-05ae-4f26-9858-0da8b8971078 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:b6f1c2a8-7cc2-46d8-a9ed-58f90e411075 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:008cc191-1b0e-4948-a278-0d4692780863 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:fa0ee2eb-9786-4772-8a7f-55092e4e2010 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:735cde45-c2a6-411b-836a-a607f4c67a95 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:d68929a6-16e2-4c49-8ea8-ff49d9396d54 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:9cb83a8e-4fd7-45d1-a5f9-ac37fe287ad2 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0001413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:bef4799a-4ca6-43c8-84e6-efae6e1f9c42 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259288 uuid:f8a64ef7-751e-4739-abfc-221d9e653b96 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:24259288 uuid:7ac585e1-cec1-4d40-a052-5b5cb274cc03 phenopacket.store:PIGA.PMID_24259288_III_10 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259288 uuid:5a20bddd-7d98-4e36-9f3e-254306d87d9f phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:f2ff2cd9-4dc9-45d0-ab15-bb235ba116ad phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:ecda3349-26ce-431d-88d1-353a9043207e phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:3474c870-3752-4026-bd7e-3855ecdcea69 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:32131661-d105-43fd-ab95-cb0e801dcc3f phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:8bce5a49-f261-4e46-a4a0-7500e7908811 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:f9cd7dac-7fe9-4ef2-ae57-6ccf108d4006 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:3e138292-c0d5-487e-837a-dad34308a7a8 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:a10fcb34-4b28-4988-b426-008070232abb phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:b941dcf5-e924-43c8-92ae-390d1e3e76be phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:b77863de-9e4c-443f-a2cf-7f1cb5f033ca phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0009085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:57fecb3d-d3fe-4053-b68c-39b9bbe057a4 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:f38cc6bc-60ed-44b4-b3e4-8cdbbe32241a phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:ab245009-5ea9-4ad7-8c7c-ae8bbafd0f43 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:433dbd04-07d9-4278-82d4-4a924215bf6c phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:7f9db5c3-8e96-4534-b649-a4ac88784e77 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0000674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:79ea36ab-8274-4d46-a2b8-87ff3fb99aa1 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0000288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:1898bdf9-0a38-4088-9c54-0b50d63c7a06 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0012704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:b55b5548-7a04-45f0-81f0-b38a182c96c7 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:fed6436b-3773-480a-bd0e-f8bee2b2a736 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:57d35077-a50e-4b3f-9c73-76a6cad79276 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:c48b9612-d4e0-4534-aad8-b1dd1076e8c8 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:68553bfd-cb39-4c7c-9ded-262e5f4c2de6 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:11a5e805-6331-47e1-ac65-62d494687e08 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24259184 uuid:5128741d-5e3e-4674-aa0a-06e1673d5692 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24259184 uuid:f126234e-c106-4f25-a3d0-66e339f5c933 phenopacket.store:PIGA.PMID_24259184_III_1 biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24259184 uuid:b2a796a6-5dc3-426f-ac66-2652907d4a12 phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:24357517 uuid:1a09dd85-035b-4382-8e85-a7384edb2d32 phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:24357517 uuid:02a66f6e-68ce-4dde-8f58-f3f7a393c62f phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_phenotype HP:0011947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:24357517 uuid:04076c19-dac9-47de-a620-184fa9a5315e phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24357517 uuid:bfa0ca69-69de-44be-9a0d-b45c53b10301 phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:e05959a8-f265-42ad-9b84-5fb18b298db9 phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24357517 uuid:ff65eb2c-7bdb-4b6f-b2cd-569ed9ba7939 phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_disease OMIM:300868 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:24357517 uuid:14ec4faf-0ae7-4bf7-8cf6-c5e1c9189782 phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:has_gene HGNC:8957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24357517 uuid:5510ada4-b7da-45ba-8256-6105da6fee8a phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38459354 uuid:bcf67b07-3a75-4649-afe3-b279d7fd50bb phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:has_phenotype HP:0000478 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38459354 uuid:e7e264e8-fefc-4a09-a8cd-e841d64038d3 phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38459354 uuid:a94a34e7-ff97-48e5-9b8a-574f604bdb05 phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38459354 uuid:01712c5f-2a3e-4f3c-b62e-84431f6db3ad phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:has_disease OMIM:620794 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:f90607fc-1ee6-4bae-ba0d-59d2dc353c26 phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:has_gene HGNC:20313 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:e47ca285-ffe3-44d3-a1da-993a32f0c1fb phenopacket.store:PKHD1L1.PMID_38459354_Family_2_proband biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38459354 uuid:93272b57-6806-4aac-81e8-513a335bbbf3 phenopacket.store:PKHD1L1.PMID_38459354_Family_2_proband biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38459354 uuid:afd5d7d8-2af6-4c6c-841d-a64f768b9824 phenopacket.store:PKHD1L1.PMID_38459354_Family_2_proband biolink:has_disease OMIM:620794 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:e3978d6e-1905-4045-80b3-606ec783e12a phenopacket.store:PKHD1L1.PMID_38459354_Family_2_proband biolink:has_gene HGNC:20313 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:d836c741-c9b2-4a98-b90b-e7006ab3c2df phenopacket.store:PKHD1L1.PMID_38459354_Family_3_proband biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38459354 uuid:e33c1313-0987-4848-a3b6-a597a1d6e8e0 phenopacket.store:PKHD1L1.PMID_38459354_Family_3_proband biolink:has_disease OMIM:620794 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:2c573835-55d6-4925-ac94-ae79fa3024b5 phenopacket.store:PKHD1L1.PMID_38459354_Family_3_proband biolink:has_gene HGNC:20313 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:fcb03712-adf3-4e7e-832f-d1e57ca1c9bf phenopacket.store:PKHD1L1.PMID_38459354_Family_4_proband biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38459354 uuid:0b4dee0e-9588-469b-b6b2-8e933e578d39 phenopacket.store:PKHD1L1.PMID_38459354_Family_4_proband biolink:has_disease OMIM:620794 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:196c038e-b064-4f25-9421-7154aace25b7 phenopacket.store:PKHD1L1.PMID_38459354_Family_4_proband biolink:has_gene HGNC:20313 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38459354 uuid:1872129c-4b9c-4931-bd2c-60906e30d5be phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:58f3f45a-9e28-47d2-a3b4-3ba41d034d44 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:9f3ab3e1-06fc-497a-9b25-26dd940ba56c phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:78c437a8-e9a5-42d5-930b-4fbc181d3b25 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:05a43769-fd89-425f-9716-ad4d10396685 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:2d779e9c-4427-4adc-b85a-2fcd4050ca60 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0004485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:cceec0a8-d9e1-418b-a99b-0b2945d0dcfb phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:51621adf-6e10-4269-a4e3-ef8483af9030 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:9b4da592-7de7-45cd-b18a-2461854f5a24 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:dd49cae4-e97c-4b01-a9d4-a217d49b6dc0 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:aa81afe2-798c-4e3c-81cb-2418b2ece99b phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:c6dc386c-6a5c-4d01-9c57-fcf88652f8e5 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:2ae0bb29-e817-4418-a750-3eded41d8220 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d6d425bf-d10c-4b79-8add-bd928a11bcaa phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:22b57a0c-a48e-437c-b206-613193ba3216 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:2dd3f492-6598-4a3a-be4c-fd87ba5dcc9d phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:3d7a84c9-65d8-4c96-8182-e1424cfdcf04 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:77a08bfe-adf4-4662-850a-2b1a7e561450 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:a5de4b80-7579-48d6-9c8d-5d35f40e6f74 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:b8805a9b-3e51-498c-8d59-748e62315ef9 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:cbbfb0c4-7484-42bd-bb87-68a164a7a018 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:eede6486-bc09-40de-836c-0094fedf1f98 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:e35d44d1-d260-4340-886c-29cd9b0e29af phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:872992da-de68-4c24-b412-5165ad349aa8 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:848e243c-ca97-4650-ad82-414bca54f495 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f6e2526c-4805-4dca-bc38-ee0ac644eb90 phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:b0e5c5db-3eee-42c8-829e-1d6deb7088aa phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:e5029119-5294-4cc8-bb12-2f8db15cb20a phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:08b9a8be-b865-4e60-a01e-1ae04c4d4dce phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:2ee64197-887d-49e6-96d9-1a01b3f28114 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:4efb68a8-5d04-4f39-9c4a-54096f9b8ce9 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:692af521-5c2e-4fc6-9faa-00f787196b3b phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7331c70a-2e71-47c8-bb6a-b8856f830f4d phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:94e00c37-3645-4fa4-9ec7-72458f70bd6a phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:ddbd4066-a4f9-4852-8bea-ddaf72fe701d phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:26fcb4fa-7c68-4123-8416-6199873f2db8 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0004485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d10a433c-d85c-4c0f-8d54-7d4b3f472aaa phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:1c5d3eb2-cd93-44f2-bde2-bc9e247fd8eb phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0034964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:6c7c20e2-3cbd-4071-9a27-053d62107b2f phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:0b6e26cc-0b95-4dd4-b7e1-5d76c70e986f phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:097e2224-dc89-4eff-8cf6-0b0a3489a399 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:e2cb8a46-f5fb-436a-b20e-40264c90d496 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:f35ab639-eee1-4437-89c1-69356a69780f phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:cf9112e6-fb4a-4112-bcfd-5df5d000e970 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:296f4cfd-8e9f-4922-be09-93771c38ec2b phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:1d20c7d5-aa4c-4e45-abee-b976d7374157 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:10822321-82a0-4d7b-bbd9-5ba30f40f412 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b0ebfcc4-8105-4342-8338-4c6172563406 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:15a5206e-b0d0-466d-8306-8a445b93bda8 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:f8644c91-f2f7-47ce-b251-970067a2b844 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:723bab9d-ed6e-4431-bd44-fe6d054a7b4c phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7e264069-8d31-488a-b3c4-148b34697ae1 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:a605074b-9690-42e1-a27f-90995608c987 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:976de8b7-84df-4965-8d80-caf282ad0e43 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:c57b2c0a-1b85-408b-a116-06e4d72f1550 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f0ef2307-3ade-4608-a3ed-fec24c6b1203 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:440aa9a3-4721-4622-a4bf-b9deffadb5f9 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:63766e1d-20de-4ef7-8618-30857a08da46 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:819d6ca4-0e36-4acb-bb5c-98d46dd1a668 phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:f09a5558-4aea-477e-906b-8caaf1cc3d6b phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:29dcec6b-7063-49ca-8298-3e7d080cb5c9 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:eee4cda4-68dc-48dd-8c34-bf09b7808f39 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:d5b8bc34-4f5c-4807-9e01-82f34b0a9cba phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:4de913ff-4e0b-4250-b68a-d613f37b281c phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:8ff4428b-3edd-4200-bb6d-084069b28de4 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:f02be48d-0f20-44a1-ab57-f32b123b6c79 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:5d05280e-a406-41d7-9acc-6c10b7d4b3d5 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:df104b3e-176d-44df-9f2f-61dddd0a358d phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:6bb78504-5e31-4a8e-8e84-b126b2f5bb01 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:f331afc0-1528-4d64-b8e5-a7c7727eec20 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:1c592401-4680-46a7-b5cd-20d0265a9a5b phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:5b4a99c7-4616-43ab-94af-c7b36bb1cae5 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:e2e04631-523f-4a8f-b058-594189e8dfac phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:b1fb1b7d-fd49-4566-97c0-63760438781f phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:6429c686-99cc-44ed-8edb-1db07309e56c phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:ded638fd-57cc-4f5c-8c99-58b34209fcc2 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:f6e05144-d77d-4d4a-b8d7-6d8737483314 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:28007986 uuid:fa3096f2-4d7f-4267-b190-56807bf91f47 phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:ee2cbef9-e5b5-4650-97c6-de7234b16851 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:06d448c0-38a2-49d3-8ace-74ef674afa5d phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:8b8359b5-9179-48ac-a2a0-133a8bd4cb73 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:ae37ec01-479b-4835-b6d6-2a2af5ea8daa phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:9cf7a238-195f-430c-946c-541fc0235db1 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d1e3d9fa-7d6e-4083-80e0-aff5f7c40331 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:484b786d-aaeb-4f4d-bd27-6dafd9ba1d84 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b8270e20-5668-4f38-ab9b-9da2fa1935d7 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0004485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:40fc4394-1e32-4c31-ab89-cc98b07359ac phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:4aaf44b0-f170-40ef-a2a5-56ac80d32e02 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:dbd81c23-bfec-43bb-b6e3-1c22de05bf62 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d83015cc-3e18-4438-9af6-bc63343d247e phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:2893e5fe-d848-4397-a506-aa59416ce40d phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:4691c908-d5b0-4526-ab65-5339e610e7a8 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:40afcc2c-65e5-4da6-bc98-00da0d804f91 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:66653c56-d2e0-420d-b106-3e184e92a1a9 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d44b818d-eb9e-462a-b497-df8c53b51a0d phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:0a81da13-c817-4c6a-b83b-e03da1ad90d2 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:4c5a1d83-7e78-46a5-8dd4-6c223634f19f phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d1fe6cbe-9fcb-4b72-9640-a224aa6907bf phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:b10d8e84-d950-47d6-ba08-1582b571d6db phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:0872e8e9-050c-434f-b890-dd26c6f8e03c phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:041adde4-586c-4e35-a8ae-1346264ec6da phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:4250a072-68b2-4e40-8c5c-a5c5452ea316 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:96e6bd2a-223a-49e2-bb20-4f1b67298646 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:4bfaae4c-535c-474b-bef0-d31be794bc98 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f049ecad-0a13-4ea0-8978-7de8b009a309 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:fc9bfe83-190c-4eb0-b6f8-70a0c1d93dfc phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:8f6dc5d2-a05a-4775-a75d-0e5170dff177 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:87d32672-9a40-4968-9d72-1cf25de7e5ab phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:b839ce2f-f2e3-478c-bdd7-cf3d0c898ca2 phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:b5e74c89-369c-43a7-9133-aa588f8c9666 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:811556b8-ce14-41ae-bcd2-3cd349eb9816 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:97b477dc-b1b2-477b-8694-d36f3c4af3ba phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:e0c73a8f-4eb2-4592-86dc-79def82de145 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:08f46818-89d1-4f23-a5f0-315c543e482d phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:a91f1fd0-5d3a-4b25-939d-144ef12f6b00 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:bdadc360-e9d1-4f3b-b37b-095c4038b2c0 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:29498384-04ba-4843-9d71-19cb58947eae phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:a1b6c1a2-d4f9-4c65-86ad-6494d1a0fbd4 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:84478d63-18f0-45e5-90fa-9452474f4107 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:69e1fd27-46c6-4ff6-8048-be17d35427ba phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:c0dfbd42-2876-42c9-bd74-1110ebdccfdc phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:828eb6b1-e773-433a-8bc8-a6b543e1c5f6 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:9f67b807-301f-4781-9d1f-d518ff4b7ee0 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:b57ce203-8915-4fdb-8970-7ef210b5cede phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:4df36740-5571-43cc-9562-3d36083d8cb0 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:28007986 uuid:cb77cd29-bcdd-45ba-baab-c9fb3697c1c3 phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:e50840f8-1297-4fc6-bdbe-f15f33be2df8 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:75226bab-fa11-4d1a-a657-a7ae0e5e4a42 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:05470c93-6aa1-4fe7-b8c9-4d01aa40bcf8 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ae71d916-d84f-4480-8bfc-7d165d179a45 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:169eff26-2170-4729-8627-237f9275f88c phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:51deca93-3ea0-440a-ba02-f11f09f09af2 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:d624fc11-7c5c-4772-a5ad-e0adf2557009 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:370ed412-0d4a-428d-8cf1-2b270ffd5e88 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:67c08163-3f9d-45b0-a725-cddd25a7d31e phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:de0f9d1b-0b9c-4287-b808-375eac34b303 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:92a523b6-a9f0-427c-b814-1bc61c45caa0 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ec1d7d56-1f5f-4b59-aaa7-22f4c962aad8 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ebb3b5b6-8588-4cd6-a049-65b7d37665d1 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:b384f01b-7a40-4d63-8693-eef5a7acf45a phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:7b2bfbba-a1e8-49f8-9908-0d77bb6241bd phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:f840be61-fc62-440b-89ba-05db75e1b552 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:84ce228d-52b0-48be-9d7e-1fffbb8038e7 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28007986 uuid:53fdaab2-2249-4918-ab5e-87b46a844de7 phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:3a398753-dcbe-4008-bce7-cf07382b0ad2 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:cc33efe4-b515-46cd-a28a-06607bf138e4 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b311cbb8-91be-45cf-92cf-ae5fb2309e97 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:591c9ba9-31da-4f0d-b8a8-3834f77e4c10 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d45580be-e106-4d47-95b8-6b2b1d30ade8 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:3f820251-6d11-478e-b54c-74c7754b361e phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:2ac51ff6-745f-4f92-a542-ec2d70c5c353 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0007109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:f5edf8a0-9265-47de-b1fb-2a9f4092219e phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:571513b0-17b1-4c21-aaec-a2e826c9ab1e phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:ec242147-8549-43d0-b2bb-c97a00046e53 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:ca2824e3-b80e-4889-8c7e-593f94f5f080 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b8ac4123-0d5b-4fe5-9ef9-7d962ad3a4ee phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7a51ec82-39e4-4644-94b7-90414856ab07 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:0e52f1df-123a-4ebc-a0b5-b067975c5de9 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:1e59d552-8544-4443-804f-29146546085e phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:761aa310-56a7-442c-a0b6-86a7d8020b2a phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:127d6741-4441-414a-91dd-1983dd90d748 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:9b8c0435-e263-4b29-b2b0-d8d79926214f phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:bee5110e-5fd5-4071-a54b-336151f5bd01 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f2f5f131-b69f-4e6b-bfea-9bbb26122f82 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:77beaf2a-a0c1-4fea-906f-ef79a30287e9 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:cca39a82-f174-40e1-98a4-ecc014e9a3d0 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:ce5615b9-703c-42cc-a0e8-1a041da09ab8 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f40be392-677c-429b-af53-c115299879d2 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:7e029a6b-4db6-47d2-845f-aa2920bbd728 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:a546ca00-e0a4-4869-bc75-84a87d29e3a9 phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:a8e3a65a-4ea3-4fc2-8d86-4756d01ef226 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:4a619f2c-0b9a-4fd1-9b3b-ecc16a7903bb phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:b336778d-698e-4173-9178-854ebb7d7c28 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:5cbffb67-f341-4cf7-8705-d2c49df8073c phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:df5ee56a-f859-447c-a754-68cb1962d050 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:02ef6c50-48ff-4502-9f78-aba3f6a0f28a phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:209bd5ba-0579-461f-bd8a-727f3f949dc4 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:2d5ee57b-8ac9-4d61-b7eb-a32936b28f2b phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:13117ad4-0f2c-42cb-b378-cbb5c1140211 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:810b3d32-1217-4988-9859-d7e9a9b880b1 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:e3b2c46f-1e40-4588-8603-955204a810ba phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ec16ee8d-a176-4186-8bee-4a262548a3be phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:719eb034-0f23-4b5b-88c2-a6c3788cfa8d phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:3fc7bd50-e873-47ee-987b-0e3c5f7b0c8d phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:34181f5d-ad3a-4ccc-b0c2-fca3dfaaef49 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:a7353207-0660-4efa-9e60-06f32b715896 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:2c117fe0-330c-481c-bf9e-2590cb665d73 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:28007986 uuid:ca19e8a6-52c5-45b7-96ea-d936797bcbe9 phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:f249f0c2-615b-4de9-8a00-9fb905cf5922 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:d4655654-37ba-4a11-9238-d88306d5c79e phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ef6c9825-f045-4931-82fe-9822122c52ff phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ad522dde-b8bc-4836-8f41-8339376946c8 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:8cc53e49-d100-45d7-b6b0-c6fd1edca702 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:7c41a2b4-bf15-4938-81f8-464fbf949114 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:3b114cd0-3a1f-4726-aa6b-2e266a25ef2f phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:e0e6893b-b443-4bd7-afef-3b13d7e22c05 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:d17d9511-0217-46dc-83bb-a623e2b53694 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:634c966d-9050-47c9-845c-7f53fd420db7 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:b6325985-4e48-4da4-9ffe-c31c58f9fd9b phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:a31cb14b-e3d5-44d9-92ad-b67536ab2a8f phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:8a60bb6b-f22c-4ca6-a0fb-115f2ecdd3aa phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:c4abf9f8-fe82-4268-b39b-0fdb825a5762 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:ee616620-18fa-4033-b181-c6c66141ad02 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:80235a9d-4e91-44bb-b351-9d814822a0f6 phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:07d27875-4dcd-4900-8a4c-090cbc9eca2d phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28007986 uuid:59458ac0-7ad4-4e64-b6f4-94c013e1550c phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:64526cda-1532-462f-ae8e-08c510f3d091 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28007986 uuid:83768011-d7a3-46ef-b1d8-ed4735cbd49b phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:a12e396c-8170-46bb-98ac-b45d189a5f6d phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:7bc318f0-75c9-4c6f-9b4b-b68a74a10dd0 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:7798336c-05d6-4ad1-8078-ce3c46eb7759 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:5c07cbea-b6c8-462c-894e-9a4914838d5f phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:9999cfab-c8fa-4352-96ab-d9f7a68be50f phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:a212414a-8511-4bfc-aa0c-bb9f0a6502ed phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:0b960ef5-71ec-48a6-97e2-2fc9cc053f87 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:c6ecb015-c321-4726-ab0a-fc077ae34644 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:c5034578-68b1-4db9-8f74-b24383a40db3 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:63a6ef4a-8298-4451-9de5-44d8e49d3354 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:942cefb1-8707-40c9-a8e9-6bc3be6c91c9 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:db5bc394-2f7b-4958-a584-cd7df234d831 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:c72f4270-a4b0-4f1c-a2e0-d452ff6fc9ca phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:53b6f55f-9a2f-4a9b-9b44-e2c1d5e544f1 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:e8617b4b-9c82-4201-883c-2504bb95b755 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:28007986 uuid:e0acdc9d-9b19-4093-858c-466d86edd623 phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:7f5d9aaf-250c-4bc5-90cf-af2c40c09fa2 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:daf2bcd7-240c-4b4e-9705-92b53d0e27c1 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:e1b7667d-56c2-4d92-80b4-7f70e45bc7f6 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b76de06f-0168-4a00-aafc-d87b44b0bca0 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:ecb249ff-aeb3-4a76-a180-f257fd5bdb5c phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:c94ccfef-ae56-42f3-a6f4-89a470078cb9 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7fa0087e-5a3a-476b-90ca-98f55d15fc32 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:3d3f1996-71cb-4862-90b2-80806ad02543 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0004485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:dd6d607d-67c2-4313-ba37-09c317e9712d phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d76de6f2-8628-444d-a340-2a32467eb866 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:e27695ad-1a47-451d-a3e9-76dc93f6ac40 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:9f4fe741-1676-41ce-9279-c9775fe9e647 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:bd6c7e3f-358f-4640-97eb-babd5e662fa1 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:e6ac81ce-68e5-4cc6-9e4b-994b94a25508 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d70cf4fa-5f76-4950-94ac-57588253db39 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7127d53d-3b70-4533-b942-adcb1e4d5e78 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b8e61ce8-e457-47ba-baef-56417c26c207 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:47cf3e6b-ae48-4bd7-a33d-8ac8a0c215b9 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:b723e378-78cb-4e6b-b081-5d629016019c phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f08e9636-3e52-4aab-84dd-83b78725b852 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:d5e011bc-dc4a-4d91-bc03-09ba3315ff05 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:90185672-0f8b-4eed-8dca-4059b1cfb973 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:17d9e9d9-1598-4a1b-b8cf-cea345d97eb1 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:cfac0edc-c362-4022-949a-ffc775d11273 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:66eba407-3640-4aa1-8020-fdf5b3ed958b phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:604db717-d853-424f-bf6b-614f4a9e8c94 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:f5634651-0b4a-4f49-a493-213f358407d3 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:e4378872-f274-4cf7-abfe-2dfca6195bef phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:f30114b0-94fa-4b7a-a61d-cfea731b22a0 phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:58e730a4-3790-4d21-a6f5-7a5d7ed2829b phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7b93fce6-a37b-4a44-b6c1-956fce9d21ec phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:97337954-8144-41d8-b043-a6c3fb107799 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:f4bb0039-edd9-4fbf-83d9-b8b9fc8bede5 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:14eef701-c61e-4e82-8472-3f21daaac852 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:e23eab14-2f23-416b-a67f-b2d96b008916 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:46b59f87-61ab-4548-ab22-6803171904cf phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0004485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d7898fd1-7a7e-4d03-9337-91bfe5453282 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0034964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:c2246556-92b1-4d87-b13d-00908e1fe44a phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:8958cb1b-34ee-4561-973e-bef715264a57 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:2c6ebc7f-e54a-430e-b170-cd148c39cc4a phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:fca1a664-d7f9-4256-9463-02e83d2019b9 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:0aeb2018-5d8d-49d9-8c73-701a20af0768 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:4cb532f0-0958-43d2-b26d-d540d493c4e9 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:61ba865e-dc40-4c39-b83c-ad1cc0f2cb5b phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:e23f97b5-4b1a-4e6f-b3be-3331ea22a749 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:67aca09e-9888-4206-b115-4bb4301a6f7a phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:29eec77c-3e2a-4d3b-840e-08634b2864c1 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:0a0737ce-a22e-4f2b-b20d-f6bc0a2ac18b phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:51c82628-1b68-45b8-9d54-b3677a6a42e1 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:5ac30ce4-46b2-4632-be5c-42f919f56c90 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:dd52cf34-9a40-4722-9fc5-cd26bc8e0558 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:3bb00b0b-da53-4602-b73b-12643bc3eb31 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:196cb5e0-c139-4ef2-9861-99a92a3c0df3 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:bf5dd555-f791-4e53-9e59-694f0c84eb9b phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:5820f6ed-0ae8-40d3-889e-14bbe30d17c2 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:550d57eb-fa03-4997-8d92-6a0010ee7368 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:cf5bce8d-c191-4d85-b33e-62e8f8569c35 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:fd99d72a-ef22-4de0-8732-9db1f45153b7 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:258e1c69-ed86-4e52-9de7-480e0cd52dff phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:8c351256-cf8c-4870-9c49-5651fc5e0a99 phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:ec1700ae-0c16-4e69-979c-010313899706 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:4319a742-755e-4e0c-a6a5-31954a6b6bbb phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:a9fe9ad4-fb98-4e8d-a63e-5ae963813582 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:707af611-ea81-464e-866d-532eab634d41 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:e5f8fd2a-8b79-4bbd-9bfe-eedf7cd31cb9 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:9ba97c44-c9d5-4494-b5ab-03846e489bf7 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0004485 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:adf89050-58aa-4594-b52e-e62bf9ff60ad phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:532e86e4-94fc-42a6-94ff-c5407e2ac634 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0034964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:d351e0da-8db5-4ea0-bf95-4276219209e6 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:0c1da779-4bfe-4537-936e-454afd47b0b5 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:3de8fd4c-7f8f-4c76-b21c-b9d511ce0937 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:80becb93-cae2-4813-97ef-e4958c52d010 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:b29dbe37-c12a-4994-be06-4ac4d5e607c7 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:220ea505-f932-42bd-9a46-5dfd6de8d8b2 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:019ca61e-9d3d-43c7-869e-21484f2c498b phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28413018 uuid:7ac62d2a-d343-416f-bf6e-c4ebccaa6364 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:40fe0726-9a4a-4511-8038-dff44a214184 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:545c00e6-a5d1-435e-8858-5d2a19b0e41c phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:7d759bc9-2406-4ebd-b8c5-6e21d71e2c37 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:a20c6a44-647b-4994-baf6-2e2723bc1472 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:0605b799-4ef9-4d6c-b1f0-1c3b5d366a11 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:ccbbee7a-73a0-4729-98bb-5a00a4b537ff phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:98fcd797-044d-46d7-bad3-46d102f4543f phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:571d22ac-f5ef-4917-bbfc-c63c00662990 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:fbcd8b8c-151e-48af-b18a-3c760e8f00d2 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:77355d89-d8fd-4a90-861c-6c9b071d8299 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:4bdf876a-b030-44cf-a98b-b2b2dde4dc58 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0007514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:b711ef24-c85b-480d-8472-03f7eeb70606 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0012098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:14270ac4-3943-4dcf-85f5-8f3896f4d1b7 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_phenotype HP:0000851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28413018 uuid:6377463c-5c16-42e1-996d-be415756a794 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:a57bcb86-978a-48c0-9716-a212183707a2 phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28413018 uuid:dba04bb7-8256-4a0c-b3c6-db8163b41b2d phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:89859824-2a89-4789-9269-607e01fe89c5 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0430046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:5c2bf7bb-2e25-4889-8bb6-28391b83192f phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:74edd989-2887-45e6-84c8-eb23bd924ca1 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:df9a8074-7c6c-41b2-8c6e-3047499b19f7 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0005781 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ac5a62ee-0063-4f1c-b7b7-f006e531ca2d phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:ab0c59f6-e7cc-459f-ab0b-9267ab53b0b2 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:404b180e-c1b3-4bdb-9d32-1a0f873ba327 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:3b560566-6837-49c1-a935-5038a343b952 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:3ce1e69b-72f8-49e7-af45-2e196cb08137 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:1f207327-58df-4d14-b9d0-1e30bfbef356 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:97995869-404f-41cd-9d41-78988df52b5b phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:863c83d6-0993-45af-9fe8-db68667cbd72 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0007410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:0afc383d-40df-43d0-90e2-4c1d51934756 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28007986 uuid:c966d945-ac43-4d50-89a1-d3fcb8ab5456 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:46baa4d4-bf27-42ba-a4d1-ec0aa382b36b phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28007986 uuid:1583062e-a0c2-4eb0-8cc8-b46efb257364 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_disease OMIM:617527 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:28007986 uuid:0011cd8c-2240-4c6f-ac9c-8fec47e870d5 phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:has_gene HGNC:9043 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28007986 uuid:3c65fafd-15b1-497a-9594-b860b688a2bb phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:422c8f54-4c50-4ba4-b3ed-0a0c6e4f48ac phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e54a0616-1311-4e2a-9845-beb90675cddb phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0007108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:2d7ce760-0efe-4804-b60d-762ac7f0be31 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:57e12ed5-c8e9-4a42-be63-199c5064fd54 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:8fbe921b-1418-47c9-97d2-de4c0eb380e8 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:a347b867-99d8-45bb-bd4e-e4624f49407f phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:86448a2f-d12b-4cf7-ba27-8065189d33d0 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ab0cf279-ffd3-4eac-9596-8788d826defd phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:a631a539-a677-4ff4-8d54-5bd35cbd0d16 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:838a9d3d-f3a9-4865-bd00-d84ab79b930b phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:920a92d9-be8d-4d37-9dd1-94b42f13c032 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:186b883b-5d51-4f25-9f04-038f405d8d71 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b7d1cae0-7841-4f6b-8d04-02b87ac0e0fe phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b6aa6272-c830-4c06-9f16-6b051c4ca3a1 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:7a93a7ee-1c1c-4211-9e6c-c3055d531acb phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ce409b7c-14d1-4a15-8ff1-51c302bf4fa2 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:56eea9dd-dbff-4344-8e71-d1b772ff18eb phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:edd00c91-5eb5-4627-ba76-5fe3bcd1da00 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:64009774-33b6-4704-970c-4c2ecb78c5b7 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:2f4094fb-19e8-4326-8a31-505ef21a6069 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:3d4ad79e-91bd-43e6-978f-96c02bd3e7b6 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:4a6668d4-f275-4ada-891a-1e9e80ca2936 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5aaea5c0-64d5-435b-b152-583ff52a5dbe phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:44b43aa7-2b42-4f9d-aa56-b8495e6643df phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:0dd00cb0-2d9a-4879-87c0-93ecb3a118f2 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:22fdc605-0266-4831-8274-48f0a5823dc9 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:883124f4-dbc6-4ef2-be8c-af0d90e74641 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:8c246a21-2a6f-49b0-a810-4ed3be1f66e1 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ed7eb92f-3e9c-4dca-a408-37def71ca5df phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:45112e43-8613-4eb6-9441-0a47a2a6c768 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:1cceb59e-9559-454b-a9c3-88fbdd3b151a phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:7df2f717-ece4-4f2d-bfe3-3ff7d7ad32b1 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:056947df-d1eb-4fa2-bf37-8ec7bef6116b phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:34469c45-02e5-48db-9fd1-a0f104b2a073 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:3c61aeb0-257a-4892-a090-b9eb973f1b65 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:237aa392-4700-4029-9260-7bd73648a473 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:d6b8b733-735f-4251-8caa-f3df3fd26adc phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:04fcf2a9-7c07-4774-9dd6-2ab045a8015d phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:9e83ff4e-2f56-4215-a228-3d52836f55ac phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:0c87f46b-90e0-4f2f-b17d-848dffdc545d phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:37919452 uuid:056adf3f-faef-46f3-adf5-f76d2cdd6fd0 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:5d4e0154-e0ca-4998-95ae-2ea22040df6b phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0007108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:124c3e4c-b765-4de0-a994-4cacd7b70961 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:4416ffc4-fc1b-4bca-95da-813dcb9a4d95 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ac3d596f-7f77-4448-9f25-f0bae5801f3b phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:47f25569-48a2-4e95-8498-88722f395d4f phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:93d650d0-d7f3-4a52-8c3f-8e8afab0f186 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:244278f5-b598-4d5e-9edb-3c39eb9474be phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:8060fa65-2f3d-40e8-bfe5-996f964dc1c1 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5d53abce-979d-45b0-bc77-f0d1ac81c5f6 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:aa506d56-826e-4bbc-8ec4-77879527f41a phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:4402329d-d4ba-41e8-9f2a-2cacf8b2e93c phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:4843bdc6-f9b7-47a3-9735-37a2b5c0323e phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:dafa47b9-f4e7-44f6-b485-7e3c0c0cd5bb phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:7fd18a7a-614b-4fe6-9898-e7a6865e1ea1 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:08ec8a03-c694-4142-8a6c-abd2e1a585d2 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:79e75655-f014-401f-a352-eb90736a76cf phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:2b62c10b-c9c0-4798-aaf4-6cd3c7ee08e9 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:af195d56-adf7-4b60-8074-7186a823d155 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:6f929789-7db7-4a41-a4ad-b9bb58773d8f phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:3d5b5523-3a77-464b-a063-07f3a1a15795 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:10f7a895-8896-4df7-b1f4-e1ba0cc00d4d phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:a5ccd4d3-13ca-4284-ba48-cd51a89583bd phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:aff9eddb-8bfb-471c-9b34-f7a8c6528f1b phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:fdb4a938-0332-4836-9bd4-59470f0fcffd phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:059da8db-88fd-4bf9-93bd-149708857460 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:eb6e8a7e-6733-4fbf-ad9e-2012f1ca02f5 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:d3379308-ee05-4f6e-8456-bfed6b57ef7a phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:6a0b1c49-e5b9-41b9-affd-f7e60ed57892 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:1f9e4933-7baa-4e08-afc9-5605ee4e5827 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:37f9d3fe-239c-48e5-b4c0-a51c84388a61 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:42b7cf01-cb16-4e24-8068-b5ede95ea301 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:da55bc4b-7813-4b00-8eb8-ca15ca02c901 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:16894862-3290-4f26-807a-3777ef8a7826 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:c1275d1b-3d76-4167-85f3-67e25c8cd724 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:7755e19a-92b5-4ec7-95e0-0c3931038b89 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:62b9c3fc-2035-493c-a5ee-c9f99c64e5f7 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:2b0c3c3b-03a5-4a84-a6bd-cec8d91f47e3 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ef388e98-679b-43f4-b1ab-febd3ef3bed6 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:12f3da0e-2f5f-459d-8289-901c0c74fdf9 phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:3fceee5e-6661-4690-bb50-2333a9ef7dbc phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:e9c55dfd-393c-4f0a-8414-547419414e8c phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:37919452 uuid:d641267b-7ef5-4aa0-8028-c4a4f46e866f phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:f443dae0-19b0-4b11-bb5f-bef3b8bf2cf6 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0007108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:df551f9e-54e2-44fd-8018-8cb19d26d073 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b77d7b94-1e15-46ea-8226-6578b8eaa69a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:306eee8c-5fcb-4daa-b0a3-0d5e1b759ce0 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:9b62a177-c08b-42f7-9f16-411c3413345a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:1f03e396-e618-4580-8fb5-a75f9253de97 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5a6ab86a-2161-41ba-a0a9-67b2ce5daa79 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ad6124ca-d831-4e2b-b559-de9ca34391bf phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:8c24dad6-5cb8-490d-9d71-8eafc3cbbaf8 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ec3a6525-124d-4f9e-ab13-8400c70e0ceb phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:86fe8474-9387-401e-bd87-390321896508 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:595c72e7-d67d-4d59-b7b9-0506470da80f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:3569077c-afbf-4956-821e-1f9483461062 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5bf17595-a14d-4e34-a1af-fcb2fb14aeec phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:581d8bee-03d6-41a9-ba83-7abf1e797df2 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b9a5b338-523b-4e46-8df3-31d095940a16 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:60219f7b-2df5-4c20-922a-bdb3663f756e phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:8e7be5f1-fdee-479f-8281-e99af9716b0f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:90e0abfe-3c8b-426f-b78d-009518c50ddc phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:4450f451-d6c3-4998-85c3-bf8422a60af6 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:7827c726-fe59-477c-bff4-252aa82b71ff phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:858d5589-b9cc-4525-9e55-a1ee139eaa42 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:75eddb40-d543-42a1-b4b1-4eb39e9c8df1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:6b234eb0-d191-464a-b3be-fe13d21f52b1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:472035d3-2427-40c0-b2b1-875e3eec61aa phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:331059ac-51ce-416d-8312-c2903e7246a1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:f956ba6e-b6b1-418d-80e5-dde3e66b07f3 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:3df31de9-3783-42da-aae9-3e0b9c1eca33 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:6420777c-ea43-4a05-9374-a3541ddb992a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:7a3345aa-20b4-4226-bea8-ccc7cec771d4 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:da699c03-9add-4417-9a35-458801bab6de phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:5f18f723-325d-4d79-ac51-03804812dd54 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:17eee2e2-1cde-4267-a1db-7b0dd39bc90c phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:f464a0e9-2739-4f91-b21b-fe6bc6427700 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ae7612fc-fcff-4daf-bd10-1b66c7eab259 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:09231124-d16a-4df1-8107-cb64c7c48c9d phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:2f03d4c9-f054-45e6-8da5-2c9c6f57d8ea phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:3f970124-b77b-4281-a783-adce1c46aedc phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:5ca45a22-01cb-445c-874b-37598b0a92bd phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:e100fd83-b869-40ea-9f14-9f48ffa17e6c phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:2f025df6-16d6-4a27-8df7-4bd324e535d8 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:8b22dc40-9300-4375-b676-faad01b4f414 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:df1bbd5e-26d7-4358-9c6d-bee4b552066d phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:37919452 uuid:5319e7f3-4da8-47bf-8a85-7e02df85793a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:10389898-2368-410f-8720-7f02daa4b728 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:d59fa288-f98e-411c-87df-8ebdf19ce24f phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b777dbb4-61e1-42d3-a002-6b860a632548 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0007108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:70daffff-0241-4680-8d58-1341fb171159 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:406c1cec-52cc-4dd0-aecd-4527b23e89a0 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:3088759e-e249-4784-8454-5358db6ab95e phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:0ce00cd6-d158-4bae-aa13-5338175462a8 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:337b5ca2-774d-45cd-94ab-bfce99013d9e phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:dc493ba4-2c9e-4fda-9783-a348e10c13c8 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:21438b17-7c0b-4a1e-867f-95408c880936 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ff901486-3ea3-4cce-b371-6ef12377ccb2 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ee76d6b6-ddd0-46a8-8adc-b1f4302d6196 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:16a015b0-840f-4310-a96a-b6b1e87c0c9c phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:fbc51290-8d38-4309-925d-edde5e477ee1 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e0c1b614-8176-4b9b-b3d3-a4fc36c9e3b4 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:eaceff17-bd9f-4a67-94fd-e60d7a6cb2cc phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5d531f8e-8205-4b1b-a79a-9eb586b7586e phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ee7a1609-c7ad-42fe-b395-e9ce51bcced7 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:654dc9a4-0419-4707-9a3e-c84a06ef6acf phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:76534c9f-505d-4c77-9b07-9b33845f7ba4 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e56ad773-12d9-44a1-acff-62848f5a682d phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:62c668d8-0a46-4849-a200-1a5023ccfad1 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:deafdb43-c4b8-459c-92f3-6103ce72363e phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:451cb083-f7eb-47d2-afdf-3528bd6c579b phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:f41e202b-9627-4c7a-8d31-7ab2f8ecb00d phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:af51b0da-c3be-4b4b-a66e-bd070c085f8e phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e80f0c8d-f6d0-4296-a63a-a773105e5047 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:7583e0ba-95ce-4007-8ee7-9aa80f84948b phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:c5a8391b-0080-4421-b487-0c225ad9496f phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:1185f57b-7219-454c-9ca3-7cc56db239ce phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:3df1a555-a33e-4a9c-8a4f-9feb3056717d phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:a7b8ed2a-1415-486b-82d1-e8bf7b19e913 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:65270a42-97cd-40cf-80c4-952e933d86e3 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:6ff2618b-53cd-4cb2-824e-40a83f842841 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:25543535-2043-47e6-a925-2089596644b4 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ccc92dff-3e8c-4fca-b433-993069fe511c phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:182b6ea2-0e30-4c81-a34c-038180a78712 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:946b7597-e601-4572-8b14-ef009b755e4a phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:072f73a7-1a34-445c-b89a-9d0269603752 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:e8c62c0d-6e52-4f01-9266-d21162131eff phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:0d444dc1-a730-4eb7-8834-be5c995251b0 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:b704d604-e343-4b1d-a86a-0f33532b8157 phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:37919452 uuid:b214b457-53ee-42d0-9934-d80b69668f6b phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:240230ba-7a38-408d-9ffb-6436b44ab18c phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0007108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:70db5fd3-7d8e-4d34-a679-4bfebf390d9a phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5e7d7a5d-38fb-44f7-9a61-b4f062e07732 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:faadab8e-931e-4b6c-b56c-ec04f54cbc0d phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:0425c10a-e909-47e2-8c59-d5bfba04d4ee phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:9063c328-dcb1-417d-8c10-91f7efce00a4 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:4904cbaa-3e88-4f4e-b669-dce86b5c063e phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:350f8011-e6c4-4851-a781-0f885cb79f78 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:abef3c1b-2176-4e86-a3bc-ca87169fbbf1 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:65b9a0a0-fea0-4a83-9b0f-94aef8799fc4 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:f48b34fe-99a5-46e2-be05-7b6de7768eed phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:2908777a-f971-4cb7-af9e-6d1c5f24200e phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:0af69d88-fc0f-428d-b410-1179260252bb phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:c05819a9-7b6f-48d3-a963-15f3d9facc4c phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:a604943c-43b9-4c71-80f4-c2eb5b34de36 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:38261936-0a57-4249-8737-104173b07d2e phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e3b48d21-9f5c-47e8-813a-6f6e81c3da1c phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:927596ff-a6bc-4a4e-925c-5205947273c9 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:607b8292-9cd6-4ee3-9490-2aff86e0a30b phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ac9b7f02-9556-4243-ba8f-b86b9f1f656b phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:4390b7c1-20bc-40ed-8fa0-9c448dd67344 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:2d8678ad-c705-48a5-8824-72321bcb6da4 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:edd15d9c-f85b-4dae-a4e3-bf0f29a3dd66 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:b8638b5d-2cc1-4c6b-a985-42ef333f972d phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:b04ca6e4-0d8e-476b-b188-82bba5ecf91f phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:3f48d673-921e-4747-b94c-a6aa2864e98c phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:50db6e4e-801a-4f62-a880-110b0397c635 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:eca78222-a72c-450d-b5c2-1e02b3fac883 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:a1610493-91c2-41b5-84f8-6f969391e426 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:82cb51cb-e930-46e7-b49a-17313834bcc3 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:61a04202-9567-4d53-b478-980f041978cc phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:8bb91543-0a73-48a1-94b3-d39720e0202c phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:68f3d7c5-eb83-4899-bdd3-b54d46538740 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ac380e98-c383-41a3-9ca9-7464e0322dd6 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:e6bbb81b-f4f3-4afb-985e-2fa4c75a2738 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:622bc66b-8ee7-4d59-be6d-f968bbea7224 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:80290321-db13-49f7-850b-7dbdb29d9e81 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:81fe50b8-6b3d-4886-87bb-179e3fdecbe0 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:79ac4914-a2be-4455-9832-9861e0f1cac3 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:e88ec6cf-0fbf-4d2a-9bc0-6b05acdae517 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:cda1efaa-64f1-41c4-9d73-9663e4cc8afd phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ed6814bb-d107-49ed-aba7-7d8d8d1f803f phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:fbda2880-b892-4d70-b5ff-b60be039ec39 phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:f7290676-1eb0-4759-98a9-daa965beff6b phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:34c62422-ffdb-4de9-b7da-a02ab944adf2 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:5cdc9c48-16e8-4cff-b15d-afc4de05dc0f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b0a58607-6a2c-408c-9697-9c291f7b6631 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:17699c14-2288-45b5-9624-78d3d411f93f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:1f6c0dc6-bacc-4563-b1cc-3fa12b4ac562 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:6d70a703-8733-4199-aa71-b32bd1e7f8e1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:1d962853-a00d-47b5-b6c1-2047b6c76203 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:7a43e9b0-235c-4b33-9c20-30f830192e55 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:2ca67d91-cf71-4dfd-b088-e0c1587fac2f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:ce775f42-30da-4bf6-8089-8b1b0bd7f67b phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b914e92d-0fed-4263-b720-c27c5b23e1cd phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:7cad607a-6b8c-4b61-9b14-d561bf9ad40c phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:8f05a2dc-53ab-4d3e-af51-30f8a316a8dc phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:61e6caad-d0ed-4164-9d26-29ac04fdc977 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:7e8b3ce8-1f84-4712-9372-7d89d6223f74 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:e455d4a6-a048-4066-b909-ae806930af3f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:37ea1ab3-366c-40da-bebb-670f629e07df phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:af27c7be-2941-4f21-bf8c-957289f27ada phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:074302ed-db8a-4b48-93ec-88f2cf5c72a9 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:de320023-5a41-49c6-ad8f-2970aeb7c63e phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:bcd2f49d-88cf-4a75-8e3c-af0eab7080fd phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:2a2c27e9-bb7f-4430-91da-ebd7867f8e9d phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:d6b12350-9576-404f-81c3-3bfd9013386e phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:5d26c01f-4c1e-4363-b081-dadd8fad2325 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:37b22bab-80a3-4eff-ad95-8700bbc0a23e phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:63df5944-df6d-49f2-874d-7f1bb34c05eb phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:6591d9a6-d67b-4bc3-8e91-8f408f7f4087 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:818db03b-d34e-4e19-92bf-eacabf776fbe phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:caab009b-9d3b-46a5-9d00-1a03ed6d3f8d phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:986a189a-b6c4-4e5b-8938-f9f7be359629 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:6a005a46-5c67-45e8-b7e6-7e8167adf1ee phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:bd7a18ba-51c2-4a70-852e-882af27f846a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:1c5a139f-d763-48f5-b54a-468a9ce4e871 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:591255dc-8dac-490a-9aa1-e5b8566ea794 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:eb96bc7f-edc2-47ac-9a62-ec46bfdb21ef phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:765134b4-c1f3-4a99-a676-ba03c10e4b05 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:7c323bfa-5a38-46ea-86be-7aaf78deefa4 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:a0c10f6f-dd85-4b3a-bf31-892ca54af540 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0100578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:c4d8da24-687e-47ab-8b52-9269bd76893a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0003712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:9ee20fc1-df4b-4c86-8f82-f54c9fc2833c phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:fbcec2ad-8af9-4cfa-8e3e-1ded63a347d2 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:818f0f5d-52a7-4ef3-ab42-29eb3e723d93 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:1d05674f-669d-4596-9ad3-bd0c901223f3 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000842 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:217da8bc-ff39-4660-a05d-f716609f7603 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:d8c4355d-6d9f-497c-bb6c-918c85b0d97f phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:a36533c4-51ef-4ba5-b297-fb18b5760427 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:240b29ac-4c0c-4241-a764-734f57ed27d1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e37f8112-873a-49f3-95c4-9e1a70ed2e4e phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:96103e38-2836-42a2-9ee0-ddbfe4efb6b9 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0033794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:8aa062ee-cb7a-4339-a497-1f16598be507 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:af13be99-793d-480a-95ea-3b662eb6f7a6 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:54ea06a8-02dc-4aa8-8554-a8471237ed72 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:e70bf2bf-70d1-4e57-ad7e-514210e4ea34 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0003233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:1e067f31-cf61-406a-b32a-877e26bb18e0 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:481b4563-17ee-4aac-a1bf-310641130c1d phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:b8f3cf48-cb35-46db-bf0c-de9723d4013b phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37919452 uuid:0a6ee4bf-bf03-4079-b40f-6952506ce1b1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:0704bbd9-ecaa-487b-9296-35546e4e022a phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:d5293285-2baf-452b-ba2e-9c9e7cd196d3 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ec0741a8-dcd0-4979-985c-6240b92dea4d phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:28983448-78a1-453c-af75-70f6b7c9d881 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:ccc8da5d-a77b-401e-8fb6-592f63efbd43 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:c42e4532-882a-47f3-9374-f9bd58e8cba6 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:1ab4c78c-c445-4d8f-ab42-4f885dfb0fec phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:55c2a574-2e12-4741-ad07-e4b9578fb2fc phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:4f00ab24-d29a-42f1-b756-97d24cd10125 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:4cbeae85-401e-4205-ad60-59b46d77a274 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:39299f80-7ba1-4151-9d60-fdc026e10a06 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:abd3e8fe-ba50-446b-b14e-5294352d4949 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:510d4726-0f5f-420d-acbe-c265c1e6cdca phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:d33548a9-0cfe-4420-a18c-1913fc75fca9 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0004425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:81ca03a9-28ed-4b88-90b1-69c1c16efdf0 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:894dab53-aa2b-40d6-9e3c-e98b2a80bebd phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:52ec75da-a9a9-40ab-9700-af7a2b90d0f1 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:de236053-5729-49af-898e-d7def736d61e phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:c9be6d8f-fa66-458e-bc11-0dca5fe716f9 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37919452 uuid:8ade3ec0-5de5-41d1-aa98-690650372aa7 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_disease OMIM:620683 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:37919452 uuid:cecbf13a-351e-4932-bba3-9b99ecd37529 phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:has_gene HGNC:17825 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37919452 uuid:e112056e-1f6e-48b1-9e9d-08168c0a9eba phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:has_phenotype HP:0030022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35170830 uuid:de712ca9-7a33-476d-8a07-2f8489d0e574 phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35170830 uuid:32a192aa-caf2-41cd-afe7-d47a2180fb01 phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35170830 uuid:33688266-acc9-4ca6-ba75-cfd58464cb83 phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35170830 uuid:c9ced9ee-7905-46d4-a660-0a223e70dffd phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:has_disease OMIM:620458 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:35170830 uuid:c31bba2d-6220-4991-842b-9bde6c30d961 phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:has_gene HGNC:9059 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35170830 uuid:3c72e26a-ea06-4cb9-bc81-c6b3b6f404b1 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:23913798 uuid:a4959c17-405c-4def-9a9e-8ba1912bdd3b phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0030022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:6e98b9bc-c555-4d50-928e-5ff3b0b1aedf phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:6b4c77c9-058a-461c-9f6f-5e22f1085d7f phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:7bbc8653-3d7e-4f46-907d-94d6710e7208 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0000040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:ca4efb82-dbe8-4ee1-8092-753fd917fd57 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:3f2901ef-048d-4ef2-b97d-dc9a4c46c839 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23913798 uuid:a349b01f-97d5-45ce-94d6-74e251cd71c3 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23913798 uuid:21e4472b-2d35-4080-8b10-cacc5715e167 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_disease OMIM:620458 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:23913798 uuid:ccdbf068-ffb8-4bda-b96b-971e0a3890c8 phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:has_gene HGNC:9059 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23913798 uuid:e015fe72-7df3-4eff-bf3a-98ec790cd290 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0030022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:55583ae7-2201-4b26-9ab0-8f2686e5ef00 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:e8af6ff1-6012-4911-947b-10883e8fab89 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:d340344a-d075-4536-a3ab-b6c40b46b73e phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0000040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:5f3bd750-d5b8-4b05-9251-bc7067d110a5 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:717516f1-9045-4706-99de-9ed888f4b9b0 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:d1ccba6e-8527-443b-a81d-1600292d2e62 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23913798 uuid:30bc70ce-67db-4cff-a564-0d3f3de9478a phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_disease OMIM:620458 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:23913798 uuid:3c58092d-542c-4aa3-9522-1524ab545182 phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:has_gene HGNC:9059 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23913798 uuid:0136a0cf-382f-4bca-a2b5-007da999d6df phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27007857 uuid:541887c0-75ee-4c16-b80e-df7e0a31c0d2 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0030022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:bdda5eef-f5d4-46c5-9c10-0aa31a7661a4 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0004451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:4c610a86-e2e9-4b31-ba1d-04ace3c0b279 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:60cc1b97-cd4a-4950-8991-ee3fc4fabaa4 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:3ee2e1a4-9c38-45cb-85c4-a03ece7f04a8 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0011261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:fea4efb4-29a1-4e36-b910-9dda8cb73224 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:e6e6cd75-9361-4a13-85e3-cdd767b6c582 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:2703b000-555d-438b-8840-b24b80b7e8e3 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:fd398f48-1c62-42f0-9a44-cd304c5cdcc7 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:b5415988-36e1-4ac9-a099-df29e913c441 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:bd15e62d-b996-4de2-8b99-b8a904d55e33 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:b737afc8-6f80-4ca9-80d7-ff3446f171f3 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:91815770-5faa-489a-9e0e-98cbd0878137 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0007628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:06821b06-c2af-4afa-9333-1ce75a04d500 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:b57325fa-2b27-4fae-8cbc-14acc3c4d4c6 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27007857 uuid:25bdb627-3024-4ef8-9299-7efcd5b07318 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27007857 uuid:4bc49ccf-2369-44a2-8a9a-6831f31fdd2e phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_disease OMIM:620458 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:27007857 uuid:3474d86c-ef7e-4c11-a584-815927937832 phenopacket.store:PLCB4.PMID_27007857_proband biolink:has_gene HGNC:9059 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27007857 uuid:613fc294-7f93-4d0c-8437-f39b82a3d295 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0030022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23315542 uuid:6adb4e6f-dac0-4af8-819c-e8da356b21be phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0004451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23315542 uuid:4757028b-e4e5-4f46-90c8-33cc03060907 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23315542 uuid:c3ba2dc2-a3b7-4199-8c12-394c4231d765 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23315542 uuid:9cd3fee7-2728-471a-85bf-24da9abba93b phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23315542 uuid:395f2ba1-d744-433b-bc46-c1c726f0699d phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0001140 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23315542 uuid:07558bd0-47ea-4c4c-b5e6-7145fab7f674 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0003319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23315542 uuid:aea7039d-eb19-4ba3-9377-c79744d458b4 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23315542 uuid:18a52aff-dc1e-4e72-911a-3f6451705523 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_phenotype HP:0001539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23315542 uuid:1b91aab1-771c-4f50-9dd7-af44f399d4ff phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_disease OMIM:620458 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23315542 uuid:f697c9a6-582a-4408-a498-d919e6d481f6 phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:has_gene HGNC:9059 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23315542 uuid:ac45074b-9516-4e00-92bc-e9fe35deee59 phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0003431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29078790 uuid:308a94ca-011a-49d1-a875-7ce0fcadcbaa phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0003448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29078790 uuid:267b1f39-af39-449f-899b-af82285a970b phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0006937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29078790 uuid:16edbd55-b8f1-4237-8aa3-8a9886d67abb phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29078790 uuid:87f09d8f-e70b-41f1-bffb-aa8d1eb34001 phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29078790 uuid:d8b302e9-f1ad-44f2-9d5b-ed823d4cd473 phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0031810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29078790 uuid:6a1a95c5-e9f1-4979-8a3c-d6c2c0919754 phenopacket.store:PMP22.PMID_29078790_proband biolink:has_phenotype HP:0031826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29078790 uuid:2f202548-d897-4b46-9243-0690cdd3f173 phenopacket.store:PMP22.PMID_29078790_proband biolink:has_disease OMIM:162500 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:29078790 uuid:30063906-81b5-4982-86ba-d7c4295a9358 phenopacket.store:PMP22.PMID_29078790_proband biolink:has_gene HGNC:9118 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29078790 uuid:4d1504b0-12ab-469c-883e-35e309ba1a5a phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:24355708 uuid:dfe0db52-3e9a-4cff-b505-0d336f653795 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:cd63d141-9cd6-4d8d-8849-38c5d1d9a20d phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:af117630-b832-4405-92eb-55e757673eb8 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:1e5eb8af-13d9-4151-9a4b-63febfbc5d95 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:c82c5456-e8e0-404f-a16c-442b73e8704b phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:8875de56-415c-4b00-a9ba-e528938d9f77 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:6b0f0c45-f06b-4d26-aabe-fe4658a71f94 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:02e0bcee-baa8-4f84-8f1f-02f418d9e60d phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:a3382604-80c2-4dc2-a66e-7c240efa1356 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:fa714b9e-e3b0-446c-ae81-f1e0bd3fed8d phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:e6b848dc-afd6-4909-a298-5d584f7d8724 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:24b2ab69-9b58-46ba-af57-e21c350d483d phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:a148ec0a-976c-491c-b90f-12587e4d0ebb phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:24355708 uuid:d155022f-d590-45a8-87ce-9becb8f02cb0 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:54d04622-603d-43b0-a711-622d5803b840 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:cbc98b9d-5d15-4c02-8021-daf857c790c8 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:811cf969-b6d7-4a28-85b5-4f3bdf213439 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:113c97e0-122e-4edd-9be8-8fa4969fc748 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:4fc3eb37-4088-48f7-8696-454ff09313ae phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:f3c03ac6-c481-4575-8a8c-38488936a4a3 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:a2390d19-cbec-4a9b-947f-1de965e3abec phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:7b7a17b8-2e6a-4ce2-a755-61a4773f727a phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:20756c23-3d94-4868-be88-2cb76b758508 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:a8402374-b482-4c1f-beda-e7feabf8945d phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:fe09d3a0-cfdc-4cb5-b88f-f7181b6518e8 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:c3c1eff5-b23a-410a-a82c-83af91a87d52 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:f42d9f00-415a-4282-ad9f-1b75680e6d50 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:1449e135-07fb-4a22-92b4-ba3dc39aa5fc phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:1578ba01-9390-4e24-8f03-e75b05c28bc5 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:a6019e8f-4fd0-46c2-b916-4f703b451fed phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:cbef1137-0904-4668-aa3c-985051087282 phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:748ffc2d-d7d4-4aeb-8146-aa1d50770943 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:6225c1c4-d59b-4ab9-9c16-c4b0cc549beb phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:b34e24f9-4451-4c0c-b040-dedad256e24c phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:8b9ff62f-61e1-4edd-b637-23d6e997bfc6 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:d54e8200-cb07-41bb-940a-e9f3257fc6cb phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:8752750c-d88a-46e8-93c6-2547f556bd73 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:6df06e0f-9bb1-4a9c-a9b6-3c8c05ae035c phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:408faf9a-ce94-4cfb-a289-9dea73f4f350 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:a74409fa-586b-46b4-bd35-39583fc88a4f phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:35a38e99-7419-450d-a78a-d5bd076e69ef phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:9631391a-18d0-491f-8c7c-8e57076457d2 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:187a3917-986f-49f4-980a-f280820a8a49 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:ae166212-9140-418c-afd0-fc4be5b05668 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:3d799f2b-170e-4432-8796-58b305ace45b phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:30097146 uuid:c3c62516-0aac-4440-9653-22d51240b5a5 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:30097146 uuid:2d60bbad-b244-4db6-bbcf-dfb236dc4482 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30097146 uuid:bba7300b-65e3-4801-bb14-def2e1bc84a4 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0008202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30097146 uuid:4fe83f0d-e8ca-4971-887d-2007b27346d6 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30097146 uuid:71a0f432-ea04-4a3c-a9f9-79d0c3850409 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30097146 uuid:3cd5e9a3-adea-4750-8f01-7648fa8750f8 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30097146 uuid:58778df1-14ec-44cb-b320-9ddce10d4c9e phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30097146 uuid:b8049eb7-da63-4484-a860-18178e5d5499 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:30097146 uuid:5c8bf262-1d1a-411f-866f-1f8753d31b11 phenopacket.store:PNPLA6.PMID_30097146_patient biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30097146 uuid:02e25d7b-3e23-4801-9d90-7441953ea0f4 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:24355708 uuid:b632b3bd-1b24-4c0e-85b4-76e2a3555bc1 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:ae8efdcb-8c19-4959-b1fd-b197202691fc phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:0ba52d13-3f4a-4d51-b830-385964a22d20 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:a9b13115-6587-4a02-9bd8-ad53acd59886 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:e37a21fc-7016-4b8c-b7a5-344201a0a0a3 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:dab64510-ff22-4850-8061-cf66bbd1a03c phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:ca5e030b-9d3b-4a95-b42d-a3bff12f8525 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:7fbf028f-9b77-4857-9a3c-b7ba1a33727b phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:6a91e59f-2bd8-4e62-a1c5-184cbbbc08c8 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:2cfd0dbc-5ea6-4c62-8458-56f979184606 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:a451329a-a044-44ac-90e0-904bf509dbac phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:2f6c90cd-cde7-49a1-b52b-4bdcc71e1e18 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:95fd6662-8657-41b0-863c-163cc3408aa8 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:24355708 uuid:b90faa11-ff10-40c6-b297-f283fe0157f5 phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:8c5228c0-7612-4fb8-b850-056b5b1f1af1 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:24355708 uuid:b3e9539f-ce28-4b1b-8fd5-6dd528f469f5 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:f9ea085c-b2a8-4084-977d-4f0354ddfb70 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:58f6998f-45bb-4e66-b85f-8d02b87adde1 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:93450f05-d16c-47ed-82f8-02f127e61d7d phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b39dc604-19e8-4c7d-9630-59f405633e85 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:50862b8c-862b-49ff-921f-3c6cbb0caf82 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:6615c3fb-803d-4530-9132-89a0ab4d37c4 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:0ec7ed8a-3bfe-4884-931e-322e64d0ef9c phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:9ca0d3d6-46de-42dd-b423-11f58370bda2 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:297535c3-4da3-46bb-961d-2b837b683a63 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:c55ce79f-b122-4c7f-b203-fe3f42d0d7a6 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:26ae5cbe-d059-42f0-b3c0-740d4c9d668a phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:77c8c180-53f0-40de-a622-8431c7af5275 phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:24355708 uuid:cf89a642-2928-414e-b088-d6e36e7b4c3b phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:b0877513-1d34-4220-b2dc-e56b9c3d7c53 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:24355708 uuid:8a5411dc-46e7-4c45-b982-4eef23d03eca phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:e8f3ebdc-1a13-41fd-a36b-1d37c2b80ec1 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:a98b53cf-2d43-42b8-8217-45a14741c1c2 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:725ab1c9-fa20-4f6c-b386-e4e5e78d70e9 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:4bef5d5e-1f21-432c-be5f-4acc55f9bc0d phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:331e29aa-8cde-48ed-a873-5ef94cbfb01c phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:d787a2d9-aa3f-4494-b098-5183396dfa2c phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:d80e5034-2ec1-4f8e-9a3d-7ec51bfef601 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:406f315d-919e-47b5-aef1-34d56137ddfd phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:95e2df81-efaf-4af7-b4da-60dc5800921b phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:cbf5c751-a3ba-42de-bdf2-7fc44ed2415a phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:6eb32db3-e7f3-4541-a398-869037f7fb91 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:24355708 uuid:2579165d-a3cc-4b44-a906-359dba28967d phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:d327c694-9bca-4d53-a69a-dc12b065cb29 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:ba1fc41b-ab75-4023-9fc8-2e27211e3694 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:0cef0836-c8c5-4ca5-ac42-474d10a5572f phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:e73ed401-9e74-4787-9a07-6472f553ff34 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:af44d8e9-3ea6-4c0c-a046-f24f3e4b4c52 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:20ed5647-4e1a-4ca5-8032-f427dbf4a8f6 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:4456f442-6aee-4716-8a99-b8ba2620de31 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:2084daba-0d6f-4fa6-a301-fa400c6ce823 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:8ebc9f4f-26bc-4309-9395-f290eb4d7b52 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:ecc6b554-2c67-42ec-a6c4-5172f172d1d6 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:74d4ce85-f65e-4d71-bf7a-24fdebf8293d phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:c0329e14-42fd-4338-8750-1353571e8397 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:cc3d28bc-0380-430c-87ac-cee751d23122 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:44eda637-150f-4906-a08d-051bb45e59ab phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:ae669dac-19c7-42b9-a7ab-04590509d9c6 phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:7c20f9b9-8e3c-48fe-ae92-6b455865a71d phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:cd1ff6f2-7a89-4d36-aa25-eb961a4a71bc phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:d88f69e0-feda-4a2f-8d81-71be2a226684 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24355708 uuid:1fee8add-82d8-4397-b100-0182bf5cd001 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:a85aa5c2-8e3e-4e84-8553-ffd522952635 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b27249ef-4dbd-48e7-8d50-ae63a9b82a97 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:9d87ebfa-19fa-4f95-a2a0-384bd0a8a699 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:563ba926-fbd1-42bd-8de5-436c6576bb67 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:8634b484-48fa-4f96-a76c-b7a67a7cd4db phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:d9a964e4-fb64-4b31-8971-21132bfd606c phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:1bf2c614-ae70-4f70-9642-b6b872678d5e phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b7c6a6fc-8f53-404b-8d62-7f3c91b6f970 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:2169e949-ffad-4784-9ebb-d913a240dbaa phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:e266d361-e036-4f52-8e6b-2ef5a540cf3b phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:283a3065-7333-4ef2-979d-8295293205f7 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:5c523ad3-e806-41fb-8846-a0b0216b6faf phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:424b9f7d-3b04-421f-bc00-4293eebc13a1 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:24355708 uuid:36bf1e1e-d28a-42cc-ab2b-9d310003133a phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:5f85b7e6-6756-4614-9001-6d417db64591 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:26c04324-77ff-4967-9845-76955dc58960 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:184f3458-04d0-4556-a500-69df8ce683ba phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:ba4d7f7c-fe15-4faf-82be-1c820fb9af9b phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:827189c4-ccd6-481a-bd95-37f7afcfbd77 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:53fa324b-fadb-44bb-bb17-a8a7ea089b3a phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:3bcf6996-376a-42a3-a7bd-67a907fb2c5f phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:a85c219d-2ab2-47e7-8991-671acfc21181 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:1d2c3f37-87f5-4b09-95c3-2eb63f8b5dd0 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:6835682e-b5b8-46ce-af17-e99df87eaa12 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:5a3cd00e-31c0-40bd-a137-df5b63985d0d phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:31a899af-b22f-48c6-925d-51a7c86a5838 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:52cf9f57-94bd-49bc-9c78-b65ba8a9d871 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:ae8b3b91-ca7b-42b5-97f7-9025430cc439 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:1ccdb8f0-7896-4324-9cf3-1a501fdc436a phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:88c44ee0-ef0b-4c54-b727-f8a54c794ef6 phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:a2b03443-75f1-4ccc-b224-35a77c671831 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:24355708 uuid:de9ab70a-e011-493a-929d-10f24662a18e phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:2d2796a0-21c4-470d-8729-b6548100c37e phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:e0ca6b10-87b4-4f71-914b-b5473b4d4340 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b5ef9246-8404-4dd1-a33e-fd8c2f477f3e phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:6840a549-9100-4af5-9ee1-dd3427cc5747 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:e3c5cd73-4c78-403e-a470-88db85e5ff9c phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:09996ed5-a61f-46ae-91a4-ad374480c914 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:36981cf8-cc7c-4e78-80b7-dcc38543589b phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:7d04c8a1-369b-435f-9ac2-f1ca671cd310 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:3e03f24f-4897-4cc5-9247-0e77fcfc7f69 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:3681d9a1-bc23-47da-b801-27e8329015e8 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:2ce03ca2-c932-42fa-8a1a-f7f7e1becb07 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:9f71afca-f8c2-41df-a97b-2735f0a8febf phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:58dafdde-d3c9-40dd-8020-1174127f2066 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:24355708 uuid:363aed4c-b273-4811-98d3-0e19c1767a9b phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:76694d9c-71cf-4dd7-8318-81b8377a7324 phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29749493 uuid:61b6d7f5-e1d9-4551-aafe-31c52501efa6 phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:85329a1e-a6e4-4332-b9bd-447bde0fd7c1 phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:925f9962-b977-4009-95f6-cf316f02d7fa phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:b3cd0943-73e9-49e3-909e-18481006ad3f phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:97d60107-8070-4d12-993f-3b34c3881262 phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0040171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:8a722747-1bde-4cc3-afff-44a0a4a4ff26 phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0030341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:8c24b8b4-2068-4753-990d-f87024e89988 phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0030344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:40c0dd80-fc59-4db1-8a52-974bd807c30f phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29749493 uuid:66c85cc7-25ff-4947-8eb3-61037825986e phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29749493 uuid:fd8c7568-e9cd-4a7a-91ec-bd3df78f8e8a phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:29749493 uuid:5e8f36b8-cf99-4c5a-bd29-a9f237a41a8f phenopacket.store:PNPLA6.PMID_29749493_proband biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29749493 uuid:2a98f853-1db4-4281-9fd4-e8bea95b6918 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:eb44685a-dada-41b9-a61f-e220c0901e4b phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:41e510a3-2866-48cb-bb8b-3b1e4f83dfcf phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:7cbac429-a5e4-437c-9c8f-4bfb985a6e24 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:b9004bfc-32d7-4f27-b98c-5e7f9343e033 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:41607033-cafc-4e49-9f0a-1826637d3da1 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:8f737734-3c31-4690-88cb-2d91402deb70 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0000135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:d3819071-9000-48d5-85fd-38e2e4d93710 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:88147de0-45fc-4d72-b84e-dfd3a5303c82 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:4763ac44-6670-447c-a387-4ddcf562b6bf phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:9505c543-e09d-47d3-a6e3-96878c15190b phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:78963f9e-69e3-4880-b354-f8081a8009f3 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:b4e672f5-d41a-4936-8496-be953d8a9d5c phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:b42fa10a-f7b1-46b9-bc5f-fadaa5d3eeef phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:82fd0d6c-908d-452a-ad1d-621b49c16e21 phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:c8fbd43a-3d95-4fad-8b84-9c4b1c5e0dcb phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:d8e6af58-9736-42f1-b28d-9611fe93d0bb phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:bd9d20be-b4df-4719-aeeb-c64c8f8adaeb phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:a61fc17e-02a8-4d9e-83ef-c84089738bc2 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:24355708 uuid:17813fd7-c05e-4d03-a7d9-d169deae19aa phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:0f2f08c9-b022-4ea8-8422-d11073973315 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:da83978f-77a2-4149-ad13-7c88efb1631a phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:05f092ee-b718-45b2-a643-40a2cd006e89 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:7b5d7857-1735-47ac-9ae6-a882ae6f0f1d phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b4a3fb7e-9ba7-41dc-bde8-047175ee18dc phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:23b88d9d-3de9-491e-818c-8989e9b90824 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b23ee176-be47-4014-8774-b6c8d29509a2 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:97e19e3f-18ac-4fec-8e07-ed77c32f2e91 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:dda00f42-73de-473a-8bc8-5d97b6129ed0 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:d229a728-5e91-4769-8dee-4a5a1c5391bf phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:7bf2e043-0767-4577-aba4-49f8a0afca3d phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:d19b9386-47b0-4718-9a3e-ee23ba284c27 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:604f050c-c8e9-464f-a89f-584f1102ef6b phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:24355708 uuid:13e05d32-cb2f-4aaa-ae6d-79a7e46920dc phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:1da68cca-230e-4234-a2df-dbf62deedbf1 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:78b95e99-39c6-42a5-b49d-67f0ff1c4547 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:6959b888-88cc-4657-a81b-8dbd1aa4db2f phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:0c373d05-b60a-49a0-bf2e-6605d621612f phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:8d635303-c312-4947-8b52-7e69e016e869 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:bec0dfb4-f7fc-422b-9966-d4b8686157b8 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:6b62dd1b-bf06-4aac-9397-04cfd01e3d6c phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:8ddecc8d-a5e4-4a05-bfd9-c18bc5061335 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:8933ebec-c7bf-46c8-8f37-26328cf6f0c9 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:472dcb2c-ffa8-4098-b363-0ecb536cf0fb phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:6ed4a82b-ae78-4e50-8a22-6e2b6ce20f3d phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:a42aec2e-d350-4862-b84a-0ef4e0344c36 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:c32bede8-1970-4e03-bbe4-38c522bb9191 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:eb2cee14-b174-43b6-a4c0-04363f7570f9 phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:3454753f-8686-42bc-bed7-4f9f52c2ca4d phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:9166613d-b791-4500-8ff6-2937712118be phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:e6deab2e-52eb-48a3-8ec4-4fb3184b0d9c phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:617ab866-7b80-4951-ac86-5ab0e7a79f94 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:24355708 uuid:126e6f9a-fb11-4a98-9bbd-777051c7807b phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:df125ae0-93e2-48b4-aa1d-908b242276f1 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:d71e8f2c-7413-481e-99a2-49970416d42e phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:031283b8-6014-4c9b-8ca4-053db74cf9e0 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:60903ab7-2027-4001-870c-91aabe42b439 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0009072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:d70dd01b-e5a1-4ee4-b780-a64b493425d4 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:62d4a687-b63e-4c09-a79c-e543e866ba19 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:19270108-abb0-4eba-a0ca-fa0b07dcbe1e phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:cf25bcb1-1b3f-434f-bad4-cb75bb5408cd phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:4e23819a-ec64-4434-8392-274feba4e92f phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:810fe4a7-b5c6-4f4d-94ad-6dfa534eba1d phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:c55c1b26-ba98-4544-87f6-47d6688fb86a phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_phenotype HP:0033206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:6f6cd792-f67a-4568-b22c-1a7d4fcb968d phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:24355708 uuid:14bbb06c-653b-43eb-b61b-10752c1f9164 phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:e477c5ce-22ef-4bed-96e8-09da2e2ad67d phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:6c10e380-0461-47ef-bc9a-9b19c542828b phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:40b7adfa-fcc9-4695-a795-c433834953b2 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:cd3d05ae-61a2-42ac-a2b2-8cec6488d6c0 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:4cc2cbce-866d-4e44-b432-f9c4c3f7fc04 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:ba443002-d641-41a4-ab42-e8dcecb6191f phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:89d04602-af26-4a6a-ac90-9a0ac3179f9c phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:25ab83f0-b7f4-4934-99ee-13df7412fee9 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25480986 uuid:692ba2e7-e38f-464f-848f-49326592e639 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:cb58cd2d-eb9b-4329-b2e0-d68f24e435ce phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:40bcca63-53db-473c-856f-5e4243015a2f phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:1723d275-525b-4749-bc31-3651f59a6855 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:339bdc45-2e96-4383-b7c1-cbf776d0eae6 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:467aa4e5-76ba-4a9f-bd9e-9e2bf34ce38a phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:42964ff9-7803-4a0b-99aa-428b492ee918 phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25480986 uuid:80e759be-7f44-4117-b855-6c58fd9c88ea phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_disease OMIM:275400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:73012bf9-3306-4892-820c-35761bca8eaf phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25480986 uuid:b3dd2865-6de8-4f1c-86b1-3f66afa282fe phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:24355708 uuid:a6ae08a6-6b89-40bc-aaf6-b59598017a51 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:b57f0723-33f2-473d-b6f2-8aef4d1276cc phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:f88984f1-5a74-4235-86a3-1fda5e3d6969 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:bd72f41a-d29a-46c8-bacf-59305fcb95ac phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:e16a37ef-3604-4808-992e-c9764a8473c9 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:e843caea-9dcc-433e-bf42-c18120835755 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0000786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24355708 uuid:1b7d3bee-3e43-4811-8a7c-aeef3129bb17 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:8e2e55af-3fba-4c31-9ae5-7afa602b921b phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0011808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:bfe69322-12bc-4043-87d6-1c8f316851a1 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:57bfce40-2abd-47f9-be16-36082a0005c7 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:b5bc3cf8-b5b9-46a2-8a4e-c3440ce98b43 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24355708 uuid:3fbbeddd-25d0-4018-ae88-5fc81df05370 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_disease OMIM:215470 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:24355708 uuid:96a7d03e-6658-4b55-99e5-e423dbf425a3 phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:has_gene HGNC:16268 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24355708 uuid:3f86a621-1eb6-49c3-8024-d58f85e1d5d1 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:1fa04e58-76d6-46df-b419-b7c345fec0ac phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:a6c03532-0389-451a-bc0e-bd682869a7ab phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:e734965a-8e6a-41e4-a293-a8bc0d19bc68 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:a486fc05-089f-49f9-b3d3-82fdd0447a38 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0030877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:d95d577f-9150-4e8e-9711-146ba1f23a8b phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:755e05ee-2399-457e-a907-9d289aae448d phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27807076 uuid:f8230e73-df4c-4e80-97e7-7bd5810e2f32 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_disease OMIM:617232 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:27807076 uuid:5191fb46-79e3-48d0-a389-22c75cb43416 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:has_gene HGNC:22954 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27807076 uuid:9ec7998e-7e86-4e8e-b69e-db26ea28fca5 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:244e71c1-6406-46a0-abac-dfd9d04c2c06 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:3c3e94a9-e7ab-4989-b32b-5f8be928da40 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:10afa062-359e-4d4b-b94e-3af57f78489a phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27807076 uuid:a8a0cd32-e4a1-4a87-b12f-7c979d8ce955 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27807076 uuid:7fa6139f-7370-45cc-b33e-98940925bcf1 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_phenotype HP:0030877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27807076 uuid:3402b649-095d-485f-adce-c166d33d58c1 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_disease OMIM:617232 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:27807076 uuid:2470a6bd-7d8d-48a3-b8f9-dcf20127b3df phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:has_gene HGNC:22954 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27807076 uuid:1a80772c-70d0-4ac1-870f-4109c4ff6557 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:a31d925d-cd15-460d-ae61-7abb0f4e2971 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:27807076 uuid:ca1f1ccd-47fa-416d-b4e7-faf68255e86c phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:ef656e82-c315-44bd-a039-4490b6648267 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_phenotype HP:0030877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:02d07e44-aeb5-4ad3-a295-29cf156e512e phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:de677edd-70df-4960-81e2-492daed3888c phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27807076 uuid:757c3659-9b99-4fde-99da-4f1e77d2cd43 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_disease OMIM:617232 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:27807076 uuid:b47603b3-a9d3-4bab-b357-61ad4a2ad3f3 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:has_gene HGNC:22954 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27807076 uuid:16d3cdef-4072-4397-a3bd-34c375f67f83 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:e7dfdee1-11c9-465c-b5da-0a2f79e088ee phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:27807076 uuid:e729bc1c-c364-4d99-bdcc-cc8bc88ac7b6 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:d5d1abea-66de-458b-a4e9-af2e8f23e325 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_phenotype HP:0030877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:3f583cb5-9015-415b-86fe-97738a608dd6 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27807076 uuid:51d42dbd-d3bc-43ee-b27c-0e44d5e33075 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27807076 uuid:01d3dc7f-c6a8-4301-92d3-a6fdc26756c5 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_disease OMIM:617232 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:27807076 uuid:bf7909e3-8029-46f8-beeb-cbd212183bc8 phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:has_gene HGNC:22954 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27807076 uuid:5eaad936-7337-49ef-b692-bdefea90919f phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:3b632cca-8fef-45bf-943a-61d72a9b953e phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:7966c5d5-cbd3-4b3f-9df1-3345005fc057 phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:dbaea1c4-0cb5-45dd-84b8-e29e2e8f407c phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:19fd060a-e321-4d3f-b55c-723f01b45836 phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:6cef7242-a36b-43f0-8b4b-2d3676a1554c phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:07949c5f-e50c-4ec1-bd8b-0b10784731b8 phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:8bf00fb0-064c-417b-8a9c-aefc80ac7708 phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:3681fbbd-62bd-4e20-acc9-a9db5bf5ee6c phenopacket.store:POGZ.PMID_31782611_PT19 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:1f3d9d97-e29d-4dd0-9221-29ac32b67500 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:f7399ab1-c81b-4e9f-ad3d-28145db6a140 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:27a1181f-94d6-4f48-a6c6-02c6f6e7c2aa phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a45c321c-d9d2-4337-89a8-9b835800d12a phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:b72dc368-8ebe-4351-9164-861c5f052290 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:40b0f4ee-1730-41ba-9ed6-0b1c2e2c0339 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:61bf63e0-e0b7-403b-8b5f-e24aa9efaa93 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:95168574-16e8-493b-914b-ee15e93062aa phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:8b87341d-9b04-4741-aa0d-ad571a5098a8 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:d919fb57-39ba-4ff2-acba-e19ac94ed3e9 phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:faaafc47-bf21-47bb-8472-13e926239301 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:7c1f97aa-f45a-463e-a6c6-63f366eba0c1 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:1dc78194-633f-40e4-bbce-ee9cbdb6ec9a phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:91edf1f1-0f72-4995-9f76-23251e28e8ac phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:c7367c46-1bc5-49be-8bc3-aa73433e7007 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:e02e298b-b8cc-4fde-bc21-da987c1b387b phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:912e8ab2-bb6b-4c0a-b508-fba5117db805 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:4f7ce742-c26d-41eb-af1a-98d839208f53 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:680ac977-0487-425a-acb1-7695a5cffe21 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:66354a26-b9f0-4df1-9a3e-7c3062541ee6 phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:8c981c28-f3f8-4ec9-bc67-cb2c0630038e phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:5235023f-85e0-4264-a0ee-0b3f390fb302 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:5490eacf-04d7-44fe-bec7-78a4f141c6ba phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:592d8c32-804f-4a52-972a-e145a4b0a178 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:492477e0-b2f1-40b9-ac67-fd77c70d86fa phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b25168c9-4c79-438f-ad6d-e6567edd2c41 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c1a3d1a9-7c6e-4136-b5fb-f120ae772ebb phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:fe734e9f-9393-4571-8372-2c89459af777 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:76bc4d89-6daf-4718-bb4e-744b40771aa4 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:6b58fc42-9291-411d-8891-748e383631e5 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:95bb10ab-e3a4-41da-b6fe-8b9e0fc26c6b phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:c53eb98f-3fe3-4143-8438-97f641cc8b48 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:cd42e5f4-47a3-439d-acda-fb512ba85fe6 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:ae35f91e-43de-4a07-86b6-b523fdd45354 phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:b1117531-b346-47a7-8ae2-a1fd1e29acde phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:bbd9f330-7d00-4068-981c-f1c5c72bf66e phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:44eb1e70-62dc-4328-99b5-2a148cfb7b35 phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:a0a01718-e11e-4c00-94a3-27143fc8cb1f phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:60ca127f-3c70-4681-bbad-5e46165256cc phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:fcd1e4f1-641c-4487-bd22-2c8206b67702 phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:47a9dfb0-2983-466b-af8a-5189eba9911c phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:4757bc08-2d37-4419-82bb-a002cd4fe26c phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:731bc30f-bb1c-4c7e-adb1-9e044cb2ab74 phenopacket.store:POGZ.PMID_31782611_PT25 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:a7bfc16d-2a5d-45be-8981-c49aba0cf7a8 phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:4e60c8f6-b07a-41da-8415-80ffc7573296 phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2176aeb4-f071-4b99-a41d-4070fa4dcf8d phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:ee879928-3439-4c0e-826e-170e5c8f6164 phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:5a7a82ad-acd5-45b4-81e2-2a02e9415242 phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:33cca0bf-d413-422f-81f2-dd78d260301a phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:9f731ccc-6c4d-4fe2-8207-3efea2db86ed phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:e29c03b8-bc5e-432f-8934-b59aec122b7a phenopacket.store:POGZ.PMID_31782611_PT17 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:3123cc05-24e1-4087-8123-b5a4d1a85aca phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d5624fbe-7f58-466c-8c41-54269773edb7 phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:c15018db-b46b-45a1-849e-a16c54bf99ef phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:2bbbf854-7cf7-4c53-b7eb-2dff0f71a451 phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:57a7bb84-d59a-4eca-b4b6-8c828b6ceccd phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:1a1e3513-7d19-4200-91d0-3632a9f974c6 phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:18f18a66-db14-429e-bf8e-1a76c5821ed6 phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:a751b454-99f1-46a2-b375-733a8ade976c phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:f730c1f3-154c-4508-a31f-8a94e57d3639 phenopacket.store:POGZ.PMID_31782611_PT20 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:4ae830ae-48d8-48c0-8911-d4beab774f62 phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:b7748237-38be-4b5f-aab6-b28a64a8e2cf phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:28fa3750-6ff6-444e-9118-1e9b7b1651cd phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:bfa65561-7703-4b69-8abf-097add95c01d phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:bd919bd0-74c3-49b4-aeb5-07354c7b7687 phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:d81985c1-2c41-450d-8d61-36443117c61b phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:a5099784-63fc-43b9-a3e3-a5b0d148dc8d phenopacket.store:POGZ.PMID_31782611_PT2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:1d8bffb1-31d0-4026-8eda-8226ed3b8704 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:45d8eb48-9412-40ab-b2b2-1b675903d368 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:1b4baea5-438c-44d5-b8e0-3887bce74c78 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ee28952b-bf4d-43ff-8769-02669ae85a2c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ac1cf14c-fd22-442f-91ea-242793c057cf phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ad7f25c8-7355-4fb2-946a-07a48abf981b phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c01cfb87-5c09-4f2a-830c-b2f7339485f5 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:44399189-f9c6-4523-9895-e0979f464eb0 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9e2e9e37-c9f7-4805-9e44-2c04f81c3172 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ed91720e-6ef4-479e-a80c-336a4f973775 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0669740d-e9ef-4114-a1e4-c90faab1adb4 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6394df4e-948c-406d-980e-0a61057fb860 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ef61d045-023d-467a-859f-1d3a15827633 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:af88d172-c1dc-4961-bf61-1b41e8738c58 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9633074d-2596-4dbb-8b7c-04d1c2646795 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a431761f-7705-4399-9558-d587184d87e4 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a759f634-8c15-46bc-85fa-b46603da1a42 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:bd1e7e29-90cb-4576-bb7e-5d319abefad9 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2e197674-a945-4e85-89f1-88db2de4805e phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ec36e419-3a7f-4bac-a2ff-b299251953a7 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e6ccd008-b6ba-460a-9c11-6c0a6b491ede phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:35670c9e-3dac-43f8-a269-b3bff3378de3 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:69dccd74-172d-40ad-9569-631b105554fb phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:aadcef72-5a9f-4b90-ae35-118f92cd4962 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7f0ed128-5e86-4d52-879d-93304a2fe2cc phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5a36d30e-8e08-4d41-a55e-afe60ab784f9 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c1188ec6-e1ef-4305-b3f2-d1422e8ee9c7 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5f88abab-c699-4eed-bc1c-7302fad8fd3c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0a15121b-f236-4b61-9dad-582290a0291f phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d11d6b65-0fe3-4c55-8abe-b2fc72916411 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:04f1ae63-1df7-44a3-8dca-6615dc7c3b75 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b8e9c07f-3d24-43fd-9cf9-8cd523e9c766 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:581f04ec-8abe-49af-a413-721fb68574fb phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7c29a854-be16-4fcb-b2ba-21c08a8eb4d6 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e813dd59-0d54-4571-83ad-c49ef57608fa phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:299d3221-50f7-4c7d-bacf-fa037febe15c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7ded650f-62fb-4a4d-8ad3-f68d826af24b phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ded228ae-45a5-4337-9a94-ea9f330ef7cc phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:21ac1a71-fc81-4081-896d-2b02adaeae0d phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d0511662-8371-4148-a4fe-95d2677a285a phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:51eed87d-00ae-4f42-8048-1bd4b943046f phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:cc67ec17-c11b-467f-aea8-7d3934e43af4 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0a72e142-a21a-42a3-90d0-c78263b3ab9c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:51482128-1019-4f70-83d3-f754c3fcd63c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1ceea2bf-e35a-4dd6-8721-303ba1bf44c1 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7f8f0bd3-493c-4e50-99d3-fa843b2dd93b phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6ba511f4-b3ea-4dbf-8c03-e5c629b0570a phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:147c10eb-fc8d-4706-a6cf-2403e0481e2e phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2a883c08-89e0-41a5-a39a-dc3e100438ed phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9dd0e378-a2e5-4ce3-86ff-f09fe6c0db5d phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:eb339e58-201c-46c1-9396-597bb034fe66 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3f309db1-588e-4ec5-8fc2-01a3e9733b49 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1f2657f2-7614-4747-b503-bff677ac693c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5577af99-57a8-4d35-b332-6ebd9056c280 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4f6d1597-3945-4048-83d1-59e8ae7afadb phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d09e02ab-58c4-446e-b959-dbfec32ca871 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:eb8c9c76-3fc6-4ba6-af07-a15b0613c18b phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ed404acc-3f6f-4c40-8774-930d19321bbf phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:845afe8a-5f57-4ee8-a579-689ae885231c phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2d34e6e9-f2dd-4767-80e1-daff1ccf0b7a phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:670fe6e0-ac77-4098-a03a-59408a9e5101 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a20117b6-ac0b-4b18-ae60-f5b592947746 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:18de64c3-f3e6-4ec8-84e7-0644b5b8c8c8 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:30223101-f42c-4f33-a927-0ac30fc7aca7 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bd8cb578-d88e-41e6-9683-6f94b907ee90 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c519c9b1-cefa-4751-88b4-4fd2b48dc825 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b1aa75a9-2ba4-41ba-a945-046a4765f334 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9f047177-35fa-4d40-a734-b8f5ae495d55 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:db21e63d-0cb3-40a2-b55b-ae303616ee26 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:77fd575b-45ad-48eb-970e-2c5bb9237085 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2b35fc38-dfa3-4c2d-9fda-cbb450fd43ca phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:cf3338d1-e56f-4e7f-ac9c-521e5c679865 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:86be9254-e994-4a08-9994-aa64e5481196 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6bf44603-b641-47f0-8086-d3210e0ad52d phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e49221c6-7c47-4689-9d3d-08157511ba91 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:67eb6123-883b-4a14-acc5-4fd459611b89 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:83d0b97d-2cb2-4556-b880-eabfab1d3a43 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4043fa3a-45df-47c9-b321-4302ed9a6088 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6ebac2bf-0d35-4358-9bdc-17e254de704b phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7c387111-b523-44e7-9fac-43ba20346da5 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1d643574-2a2a-434a-a71c-875112042632 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9e7cc0ae-e712-46b3-aa9b-47f9ba0c3a77 phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:74af4869-908c-48cc-9435-0ad95a1f39fe phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:d3a2086a-d0a4-4ef7-9182-7cf20771cfc9 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:0ac286ce-e5a1-4f12-bc28-7be87bb39725 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e4e95f64-899e-403d-b5b6-3299386fff51 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:114dc10f-7f9a-4f72-99a4-af0c80797af5 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:d4f96030-350b-4f76-bd6d-00e29d974f08 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:03398d44-ebb6-4b01-a44c-bed96496e139 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:08fd206a-ac02-43b9-bb98-2777a06eac87 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:b9674202-fe23-4b05-8f6e-4370e6856e86 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:9e266f1d-f8b8-4425-81c1-491ca1523475 phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:53cbbc83-fb15-41ad-9ae9-1f9b45a099c3 phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:1ea916c6-c4c5-4139-9f6c-2c621ca214b1 phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:065bca3e-f413-4dfa-b9d2-e058e8a871fd phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f555c172-8212-420e-9a4e-b8efccef1d86 phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:15da2f0b-d1c8-4855-9606-022a78f3571a phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9f348de7-e50b-4dc4-90d6-ee7f5f3bac8a phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:a659a6c9-3ac2-475a-a0aa-03010cd12a7c phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:91d352d8-74cb-4929-8a3a-b510ef5a3d81 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b3df3be3-2074-45a1-8fae-11056a1d542c phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:067bfbd0-b433-4207-8840-8848fc4d3405 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:21812c8e-673f-40a3-98ea-128bdf91563c phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fa77f3b1-9980-4f72-bf1f-6b412b778dcf phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:06c01904-f1e0-49cc-815f-60b66406bc57 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a3d3d8f3-3e1b-4f23-98d8-e4274f228a69 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:3418916e-a5ca-432c-95e4-3a1f6081c648 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:40343e9a-f4de-4a51-88e8-9108938c0660 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:20fc668a-d821-4605-84af-1b77cd0ce576 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f81f59ec-c582-4dbf-8419-03a14a87e6c0 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:008f32d0-0116-4f43-b037-38dcdfed19de phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2c15092c-546c-4674-9c15-a0fa304adfcb phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:beb32fe8-489b-4ded-95c0-a74d3d8f9400 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:14c072e1-aef6-4f44-ae90-f19a9e291213 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:76bcc03a-f805-4b5f-8a58-3fb660ccab9d phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5d987386-c7d0-4f48-89bf-619be15786a9 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9d6c1424-1558-4089-9fc9-a88db93532cb phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:28a85701-8d52-45ca-99fa-ec4e4a6c883b phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8c2662d7-b701-4474-a101-bd8e8eac3e66 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:16467d57-6635-4bd7-a5b1-0160a271cbb5 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:93515971-f590-4d5f-9abe-0589fffd1fa3 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e813c188-5dff-45b3-aeea-1ac99399cde7 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b60ed542-7232-43b7-a51d-83932f45a636 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5162246e-5117-44a3-96c9-2e11ff888fc8 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2f5b667c-1365-4d01-8fac-565232e8e293 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bb34a7e4-4dda-48cc-9c0f-bcc2ab4caabe phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:34659e9d-96d2-4264-ab32-09917d337170 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:75729a8a-c7ed-4f4f-9391-b00df3355cef phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f7baf0d3-a8a9-400d-83e7-4715841e80a3 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c5aed41f-aaee-479e-8024-ef62bd6cd630 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:82e78188-a4b1-4f1a-b064-57db4c27c5d6 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e3e5aab0-b6d4-4fa5-8cf2-804e60e20331 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0208be90-2375-4c02-a587-cc7c8455ba64 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:055d703a-68dd-4187-8949-ea967e974f89 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3b66d758-b70c-4123-9d86-e8cc64705ec1 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dee1de0d-2a46-4bd4-899a-16b8cd3497c7 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:26b67475-bd8f-4fb9-b064-1fe60d6ba6fb phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ea57380d-8f1a-4904-8cda-ff5bd712360c phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5b526c57-c1c9-4c16-b5f0-17435b351827 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a7adc33b-1d8c-442c-908e-fcb900b2e070 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3c11a6ac-0bc6-4e7e-ae48-d1a34dcdf280 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:456a0d7a-c4bf-40e4-914c-8ec5b0730f9c phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:29abae5d-8790-41f3-9981-ea22f17ab127 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:db110b14-20ec-47cb-8dad-72f53212de6a phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:eb2e19d3-d08b-49ac-9218-9b21784a81e1 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b3da9c35-f413-4939-864c-276c06802c4c phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6ff5b591-67c0-4b1e-b4a1-d56108bb8e13 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0ce56e5c-6d31-42e1-97ae-b577619a51d2 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2de65967-a759-407e-9f0c-91f9bb3c2af3 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8e12888b-378e-4e49-9bcb-693cb98a3620 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:43ca1554-16e0-451d-8d35-b5d37693a48b phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:59456a90-7e12-48d3-8c39-b2f817ad4576 phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:255477ba-21a4-4824-930e-a9d518fef93b phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5338c751-f1f5-47cb-b35f-ad53aa62a81b phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:a0a60b04-3f37-4f39-95e9-28f7c092c4f3 phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:70d16c05-1379-4284-9bb0-fcf592661459 phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:ec151356-4c2e-43f9-8ba1-5beac307f3db phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:b86c9c0a-9009-4f5e-8cb7-2c6d9310caea phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:ab4d7287-3512-4783-8bce-63fa088c1dd0 phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:c0b9581e-355a-47e1-8351-de97f8b2ee70 phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:4e8ccd9a-3915-4401-8cf9-0bb66f21c8d1 phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:7e941423-c96c-4843-9906-b88db518f75d phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:f2fb9f49-c73f-469b-bf16-a74bd774906d phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:6f153b2e-c7dc-428c-a9f6-749550a30f8e phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:1daa57ea-a45f-493c-bdfe-33a5846d65e7 phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:623a02c5-f963-4b92-a3f7-4fd793449f98 phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:8e932058-6ae3-4c5c-bb44-d4bb42776cc3 phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:f869f3ce-aac9-4823-852e-a505f4e7fb7a phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:93a32651-bbc8-4c5b-8cbf-4d6aab7bc37e phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:c0ba4f1c-5187-4bba-bd6f-13a6979c7261 phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:372eee61-881b-4eaf-8ad8-7e27e59be540 phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:6d42a8f8-5521-4cf2-b607-f70b2f2660cd phenopacket.store:POGZ.PMID_26942287_EE4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:d94a06b7-9839-4bb1-9a6c-3e683a25cefb phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:10db453f-e7f4-442f-9dba-4be5d4da1538 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:8ce4d9e5-d332-474c-bc6e-f9e8e0f39954 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:53aed284-bb06-4947-9d3b-07900fd4f6b2 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b4a6b13b-8925-4320-b252-9ed15bd07a9c phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:3efa814a-7310-4901-bfc5-76c438c8ce71 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:23352854-bd60-4b27-aa73-01211ff3e940 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:46cd64ce-a4b1-4608-abeb-293cc04b7da2 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9c2083a8-ffb3-48c3-8090-137c115bb0cf phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e1f446d2-0d37-46f3-baf9-cb3195dce988 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:c96da462-8171-44e8-946b-2c9cd32ced90 phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:102da492-26a1-4481-a1b2-a4c99a31c02d phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:55ac4c1f-aa01-43e4-a69b-04de7ecc0151 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:264e267b-2a36-4dcf-aa47-61ea390c1a45 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9df7e91c-ce1c-4f37-8c90-d95e2e66560c phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:40270d4b-7ee0-4bb9-94a5-91b79c976c31 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:910dd33b-952d-4f9a-9a6e-f51479d23734 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:bc2df21e-4f07-4019-9f5a-7e36179e57a6 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b1fa925e-1468-4871-a27d-12bbe582744b phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ae77eefe-a617-4e59-b4c5-287db81d9746 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:605b1e91-f37b-4227-8a53-b5aa431cbc42 phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:eef12e82-0ddb-4d4c-b0c5-23ef5b08321d phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:c840f4ca-30a2-48c9-bd1f-0ef8ce85b8bf phenopacket.store:POGZ.PMID_26942287_EE1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:621f8a18-a0c8-4d8c-8280-890850f0d5ed phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:30d73135-62d8-4a49-aa40-3d6481c72c5b phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7c97515a-2e6a-4ba1-8514-b16279d95d1c phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:18f5bf47-7663-41d4-a2ff-e3d1dccf5c6c phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:ec130a1e-2b39-418d-9278-1c74b3cf7dfc phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5a550754-4def-4d35-8445-a0f0426e05a1 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:65e30599-91c0-4b84-b69f-52ab9927caa7 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:889f6d03-6fd9-405a-abcd-15ad3c4f2def phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:eeb1a9c7-98cf-4b20-b7ed-97f959512371 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c690b7df-af26-4867-8ce2-8fd266329b9f phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:46e2529f-5e96-4797-a5f0-e90a2ba71959 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7fd5ab78-83fb-4d1e-94d9-0bf682ecfee2 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:eb9fcb93-0241-44e4-a468-0091a0566545 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:e900dd7c-31e7-4aa1-9305-1d1d8055d0c3 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:e0502d3b-eaff-4242-ba06-70e42212902a phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:9022abe5-5626-48f8-8d06-937717350476 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:1d21c6fc-781b-4a92-bf67-99c0fb811696 phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:e5aac48c-63d8-4c1f-804e-9a7a104bdb63 phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c3f330a9-b755-42f3-9f71-8c78add1a31f phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:6e64a7d2-b217-490f-a11b-f48ac919c340 phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:3bd53bf3-c7d6-4fad-948f-4f8092627e2f phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:90bbc907-78c9-4acb-ae52-16ae3c561afe phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a432a8ce-8a6b-40cb-a6e6-82c9a932e0ca phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:1f198d2c-b4d7-49db-8386-4fbbfc6befe0 phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:42c70ea3-7a48-40ba-a2b6-2590974419ab phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:4d0c431b-419a-444f-813e-b44d24e32d2f phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:abc34df7-767e-489d-9ad7-2dc8ff2afa36 phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:ec263c97-a582-488f-88f2-5b8bb5f1f492 phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:bc0d5dd6-f2cd-4636-8858-711c59b0bbcb phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:4c264cc4-49b1-4fb7-ada5-cbdc9822e6ea phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:a862b083-dad7-4809-8f5f-f0ae0b8160d4 phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:eed862df-985a-406c-81cf-0657607165f2 phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:679e26f5-4b84-4336-8d98-b32ab6f574dd phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:12b7b439-dd68-4a16-bc2b-cac8a4e5293b phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f4cf3196-2e3c-430d-8f63-1895cddc5ccb phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:004df554-d430-432b-89d4-e3c645405486 phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:dc12856f-32cd-4a6a-a266-0e0fe3ef667b phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:b948e3e9-6482-4c76-8d58-f0d1d1e3a629 phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:12f539ea-22f7-4dc1-86fb-bc4f1506a6b1 phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:87ce8e57-03de-45dd-9a89-521cc632c5ff phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:f60de696-7d2d-4b85-b2ff-e5aa4875a299 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:57e35b38-0fa5-45e9-9223-85ec651ed9f3 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:db03f339-161c-42ff-b7bb-b3a713d06e5d phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:42c09ee4-1033-4498-a523-572253fcdb48 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:e3c6c2dc-aabd-43d3-9fa5-b49ca8721db5 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:e1454fa5-f926-4758-b3bf-82c3998c4fd1 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:2c6ff4f4-3589-4694-a710-5b855e2ed657 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32345733 uuid:b4e44a15-49b2-4455-aaec-23851ebf03e8 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32345733 uuid:cb26a715-2968-4008-aa78-714731cb7b68 phenopacket.store:POGZ.PMID_32345733_index biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32345733 uuid:1e365fed-fe6f-40a8-83ad-9b31cbd269bf phenopacket.store:POGZ.PMID_32345733_index biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32345733 uuid:5a88d507-0559-424e-8530-138d6dacc40a phenopacket.store:POGZ.PMID_32345733_index biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32345733 uuid:bde2383b-7f71-4356-b5c8-974b2da9d81a phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5fe13134-1a1e-486c-affa-ec95d65176d8 phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:4d0b6cd0-5d9e-42c7-88b5-b4998d7c4787 phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:a24edd15-7ed6-4716-a8d8-d80cdbfe168f phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:caa80fed-c7e7-40d6-a272-f80f972dd209 phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:a821b7ab-6bf6-4492-b9e3-61dea9a04d46 phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:3982aec5-b213-418c-8e01-2af3ec886338 phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:76b14728-215c-476e-8bfc-0cc13dc210fe phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:84385e5f-3018-456b-af2d-c8b02cfd64d0 phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:67b828c5-9715-4dac-83d2-a311fbb29f19 phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:3d340322-2b0c-437a-8ec1-b161c3f75aaf phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:8af9431b-791a-4c1b-972b-f3271e6716b3 phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:d0b652d5-043a-47e1-912e-20f9330abd2a phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:95526127-6e05-4708-9b49-8ea7b02c2b04 phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:ba8768c8-0dbd-40b4-8312-e661b210df60 phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:80781600-9b92-4eb0-80ad-18cd59d855ce phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:26ca7d96-da9b-4c4b-9a7b-fb000b3a1595 phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:516eca3e-80c5-41f2-b233-b0f51b4ef5f4 phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:21d2d65f-8631-4c39-96e7-fba62b0a9e58 phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4b35ec65-6a29-4508-ba67-7bf5d93c47fc phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:663f77af-1474-4eff-bc14-385e0a51d72a phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:aa48a740-dd36-4654-89d8-3a90614e76d2 phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:9f05505d-259f-405e-b92f-0dae61b8b94e phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:497a7008-6ff8-4924-9f78-5b0869db7acb phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:dbe7a632-42e5-4471-986d-9f1d5a1c0562 phenopacket.store:POGZ.PMID_26942287_FR6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:750b6807-0919-4ddc-b840-8a5a45b9a762 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:635c816d-96f3-4862-bbc5-bb2552ecb4f0 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:bc7f298f-fd5e-465b-a55d-acda04eac66b phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:fe036e62-da94-406b-865a-48417ca2eb1d phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:19947725-0407-486f-870b-e80635914084 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:6807f595-c386-4cf9-a69d-d0d5c5ccf9ab phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:1f35a075-df4d-4aae-bc66-1a7c016d5c90 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:205718d0-3abf-43d9-9672-d91df4753ad3 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:b422fa34-37ac-4d2b-ab6f-c12e6f497822 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:cf47cd59-ed7f-47e1-9bb9-290b27402fff phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:696210e1-b141-478f-94ee-a196d60bcbe4 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:7a1973d1-cb89-4b3e-b5fb-6280652bddf5 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:0640a307-e1a1-49a2-96a0-22ae7ac95ef9 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:52c1ae73-44d5-4260-8df4-dd9480b85a94 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:cd0c73df-f369-4120-bd61-1769bce5352f phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:3d2cc259-8d60-43b5-b722-b6effe2709d7 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:cf8aecbc-f706-44d6-9cde-9f3ab99672ed phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:14a1d551-5930-424a-8735-9645bf480a08 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:476d019f-d185-45de-a5dc-21b5c49c59eb phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:a31bf587-b07f-4ea4-b4d7-da4a3109e9d8 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:2506b3ec-ea4b-4ff1-81be-73ca45a37a56 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:e1db52f7-7b6f-4f53-8dd6-df48e01c075a phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:c3a7949a-e985-4d46-9bcb-c3aed95c1c81 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:72ae6dca-4600-4c68-a15f-5334dc267dc7 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:49d97b60-6588-4ab3-b947-a8af79c694de phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:0f158e62-c85e-4408-be77-cad862de4290 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:7065992d-cba4-40c2-a59c-8f84c9e3c271 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:763be8e3-80c0-4a9f-8d0c-3d2abe717669 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:2faef0cc-032a-4146-bdd2-1e040c3c615a phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:6f7ab362-3f9d-46c5-8ce3-f1879e5127ed phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:90344a45-de17-403e-a9b2-9ee0b4708734 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:4cb11737-8e2e-4f0f-9344-5cb5f59d9c1b phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30879264 uuid:741dd9d7-d9bd-4bf0-9126-cc57bf52df26 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30879264 uuid:58d8ae61-2bec-4800-834d-290bcb0958ec phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30879264 uuid:29728837-99a8-444a-a467-1ab15ef215e7 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30879264 uuid:af91faf5-15e6-47a2-aeab-7b58708e70b4 phenopacket.store:POGZ.PMID_30879264_case_report biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30879264 uuid:0cb59315-0145-45eb-9fd6-22e38c0e89c0 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:6a2ce4db-1ae6-48dd-a695-396485185a08 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:ff669760-8fa7-460f-b938-153b2203aa1b phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:3d426f7a-777c-48cf-9116-790c3fbadf19 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:d30c58c2-482e-44c8-abbb-da90d4e0feca phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:292933ad-5bed-40d7-82ff-235cca20e625 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:5c83f093-794f-4d7e-8e3d-8d0ea567b7cc phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:a819c8ac-6062-4036-a394-7599bf03b373 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:4000bff4-7015-43ef-a55a-90d8d7ecf479 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:9d6d1736-3815-4cae-aecb-64ec51ab2c04 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:38911901-bdd3-4ff1-8885-1b0832d2b801 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:39992471-b30b-42e1-bd35-784c8d0d7e60 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:b677dbb6-ce80-4757-8157-86f79f64f073 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:84a13a18-33dd-4600-8890-dc82c2f8982c phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:b8ba4e2b-0824-4f31-b428-8296448f9c7d phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:18c26361-763a-4038-acce-020a9a637365 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:2d7f23d3-3901-4ab6-8a91-3da95092bc11 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:12fa0e00-75f2-4d3f-9cf8-78c02b17bbe9 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:da3f6b03-90b3-4a6d-8a55-e9dbc3296cf5 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:ed6c2177-ffe6-44a3-bb94-366c4eef7a8b phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:c5981aa2-3c4f-498e-a648-bc3fa6ef1dde phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:3f206217-ff18-451c-90f0-796056a1f41b phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:867cfb8a-987b-4c2e-8d04-1b570606e525 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:8fec3c7a-311e-4e30-a129-f94581dd7e92 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:a30f8e44-f88d-4b90-b67a-8f1e114ddcc6 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:b6104601-f3af-404c-baf2-439b619975ed phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:60cc0a91-e030-474c-bd5a-49532116985e phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:c9fe3026-558e-4e53-910b-1d7ffc052829 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:4c0681ed-e598-497a-a203-19e9488d1315 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31136090 uuid:9c790f34-57d1-4271-8c7b-548bfe960e69 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31136090 uuid:7952c0bb-a921-4434-8d0a-a7b0729682d7 phenopacket.store:POGZ.PMID_31136090_case_report biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31136090 uuid:21667b62-03e0-4c0b-98c3-0b31d4f81f09 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:3a25d067-3b6c-4406-b2b7-6ee3a1b84434 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:1e03d859-8b0c-462e-867f-2bc680acaac8 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:4f334a18-08a7-4d29-842f-3b0a1d78e86c phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:b990aeb8-5524-4995-be28-87cf3817637d phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:fea84b58-bb70-4fff-96ad-2d02b4f170d5 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:e7bd434d-b313-4758-9595-4cda6c99d611 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:a93b43a1-1a13-47e4-86d4-d52a69c7feda phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:7ff040d6-1a1f-44f3-b92f-aefc22b16fb1 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:1b0ed1a9-9423-41f8-b0df-f824469f9427 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:431d29dd-4f04-4a45-98ce-d4f6268df6f7 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:59cc784e-6ecd-4de9-9ca3-8f7da7f1d02a phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:31bbd120-c128-4ece-9955-1588f6525587 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:1954f45e-ed02-4151-bb26-e391d961971b phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:b0b199dd-cf3b-4ed7-bece-1a703ffdea33 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:8f7ba790-b5f1-4997-8309-68d378c2bbdd phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:665e0402-d067-4d5e-9146-5165454d0d8b phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:d76fa9c9-11a0-4834-8d8f-bbfd3d450d3c phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:bdfb180b-4bb5-417c-aa5b-e2f618307868 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34215294 uuid:92646dc2-3a37-4a12-9bf0-8a1ae998425f phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34215294 uuid:87f83d76-18ea-4444-a65f-d6928796dea6 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34215294 uuid:7984e576-9dc4-4a9d-8c18-6a111256cf95 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34215294 uuid:22fcf82e-1229-4f80-bb9a-10730f03bb07 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34215294 uuid:5ece854d-ce72-456e-b5bb-fc328901682c phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34215294 uuid:ab30fd17-7d27-4201-8ec8-acc87191d447 phenopacket.store:POGZ.PMID_34215294_case_report biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34215294 uuid:518025d6-ae39-46d6-b966-97880134485f phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:cc85d878-3f20-4bf9-a95e-fe9fde51c740 phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:20d9ac63-a929-4754-9daa-9999942455fd phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:9886e7e1-3027-409d-b80c-6c8f0c031a3d phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:f1eb7896-4b41-437c-96da-fd485c6c8971 phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:e5180fb7-5f83-4270-a09c-fc7c1d577b68 phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:db058309-6d70-4891-a196-004a033deec8 phenopacket.store:POGZ.PMID_31782611_PT9 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:f7cfdde2-10f8-4dba-9a67-150729907d7a phenopacket.store:POGZ.PMID_31782611_PT13 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:4d698eb7-b39c-4563-8568-e08c0ceffda2 phenopacket.store:POGZ.PMID_31782611_PT13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:6b94f35e-96b7-4d69-995e-f2935a60f0e2 phenopacket.store:POGZ.PMID_31782611_PT13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:3ee2ca19-c379-47aa-8fae-2596ee524f33 phenopacket.store:POGZ.PMID_31782611_PT13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:11217c61-091d-4bdf-9fc3-866aa52de432 phenopacket.store:POGZ.PMID_31782611_PT13 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:2140868a-fdba-4231-a189-15e94b1ea5fa phenopacket.store:POGZ.PMID_31782611_PT13 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:b9867636-a379-41b7-8676-bffe403d751c phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:bccd5edb-0008-48bc-a101-53fe2e4689c6 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:81c7210c-123e-4d53-8e33-4fa65656e767 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:8086a6a7-aa9b-4a02-9ad7-78d995e85bf7 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:5c53d0e6-18c0-4dc6-a730-6aa34f9fc1d8 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:67064d57-fdb3-483e-b485-5eadd98f8965 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:4fb53ef9-f7dc-4717-b1ba-9c5c0969cf06 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a9e0e956-daa0-49ed-a5be-c01b186f42e6 phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:71d99feb-2034-4736-b53a-6cc8962e3d5b phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:277854f1-6968-44a5-be88-65695672737b phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:0ba5ac75-fc34-4a25-99a4-e10c308a6498 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:6ee8261e-8e90-4e29-a343-352a85c6fbe4 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:04585627-7a37-4f09-8e4b-8a7fc98e7c32 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:6a51cc28-0576-4b49-9216-e309a59d384e phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:9ce8d5b9-9823-45b8-9605-ba7f6df98c94 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:ce951301-366d-4d5e-a88e-dcb71348fdd2 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:69474ce8-b69f-411f-adfd-34e549cf0ff8 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:d87764d8-a52f-4877-a8b7-032b510b3a78 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:d62f230b-a926-4822-aaaa-a582530e8f01 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148570 uuid:52356a9c-f51c-4f87-a9aa-296c3ea2c4f3 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148570 uuid:550f6de1-6672-4b6f-b958-e6f3857f20bc phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:229a7f02-9550-4a9a-8c86-ae03e0c32621 phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:f374e31b-a9e2-4a0b-b94c-290e691026f3 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:69d1817b-54e4-4a1b-907d-a5b4e8d3569d phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:1f54fda6-785f-4f40-8210-f6956d41e65a phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c86776bb-a8f1-471a-b91b-6112669fe978 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ae5e73c2-c0ed-4d52-8a7f-8710dee0ce5a phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:78dcdc96-3600-4234-9b7e-0be53e0b3839 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d98077d7-f220-418c-8e85-847ec6f5850f phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:1f54aa7a-0e3c-469f-aa78-fa3a4cb40015 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:8bfb952d-a37d-4ebc-aaab-31d76d7b33bf phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d64c1ea9-edea-4b55-874a-876bd1d6021a phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fac00fc1-fe93-4511-83b6-3d6370294182 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d714cea2-c0c5-4c96-940b-d110eafd5a42 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2ff4d06d-ebef-41c3-9fef-881a7eb5649a phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:92b74946-b900-4518-a560-6d14e9004683 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7d5fc5ef-f05c-46dd-b38c-5f1b2ff4ab43 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bf590534-4d4e-4bd2-9f9b-448286ba99be phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0da66ab2-aa4c-453a-9e21-3bb8c002c32c phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:566eef09-049b-4c85-bedf-2ced5229c625 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:34c5b74f-0709-43bb-b5a4-b634d1c1cf14 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:95a03489-e9c3-4a5f-938c-7fd1d3ae4af8 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d4fa2469-ea41-4be2-abbb-045d7401c009 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2d3d4f1a-8557-4d5e-97c9-32275ff7a8bb phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:de6ba933-d2f6-4112-8ba1-c9c442a3546b phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:831ef89a-3ac7-46ef-9d58-98e9cc757781 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:996514cf-598f-4a27-aefc-4f592172c6ab phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bfadc116-d9aa-4676-8a81-adab68c6cbc9 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c896172a-0ca0-4232-85bc-2065a85f0bee phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9c625950-92f3-4038-a4e0-addedfad9d4a phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:31489dc5-fc9d-44a6-8941-fb94eb0c6cdf phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:31adab26-2532-4e8d-b5f4-1019d6465d7e phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dc73a6d0-1fe7-41ec-8be3-6111499363a9 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dc53680d-9c42-4e37-af97-cffdbc06e1b4 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b953087d-a145-4d37-831a-96977b4d68ec phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4f90de20-e3ba-4ffe-b79f-052fed3ea166 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9a0edd90-4ed6-4ced-b3b0-391c101ab898 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1ad8c69a-10f9-4b68-84bf-ac9dd70f790d phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:85ffe30d-5050-4871-a58f-2b7bf937425b phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7a76ebd7-e522-44e4-b795-6a3eea48e64b phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b02a1c80-41d3-4cdf-b6b4-cdf2a508757b phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9dea337e-8d13-47b2-82f3-5ea47d7d1158 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f23f8935-b2ca-4ca1-a036-7a0d8dfe35e1 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4ae41908-a689-4e4e-8c3e-8c1ffe9ef7d7 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:41ac142b-cc88-4f80-b5fd-aac5e79bbe14 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d97d9a05-d244-4d7e-8a07-fa6c847bb8e4 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:371b8fe3-7929-44d4-be7c-1d34e5eae1fe phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4adcd5a0-07e2-4489-91d0-0ad751acd0d8 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dc596e4e-1405-4f3d-afab-af6571962b4b phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bad2b6c5-16b9-4c34-8e39-747ff6d8edaf phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fb537efc-ed64-449b-bdad-dc85d25c9536 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6b5ccb46-78ca-43b9-8e61-93949e4fc80f phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:25f13d67-3859-4d2e-a942-3301a6511d5a phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4e972335-d0e8-4d84-8a98-bb3690413ff3 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1866e5f1-8e52-4423-8989-fed4c07894ab phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:94cfe107-54c4-40a3-b72d-c15af461f664 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0f4678a0-be32-4ab1-b644-d1035f53dba1 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:71fe96b2-7d7a-41b0-807b-19e16eec47c9 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9632c4dc-2830-439d-95d4-7ea2fcc3bdc3 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3cf4a7e3-0562-43ff-a2e8-6c41d1e68460 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bb3dd9c6-d6a2-436a-a420-fa6851283f31 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:86f5fae2-2a67-459b-b628-0bd4905894e3 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fd973dbd-f1b6-4421-93fc-4bdd4398353e phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:be0bea12-1923-483c-b524-2727a378e4d6 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:93883184-a4d0-4162-9f67-1aa099a0d659 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:96da9fc5-5857-4a01-a3b6-e4b6041266e6 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f481dffd-e5ed-44b9-b11b-7c73d3d9d2cb phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fc3817b0-b7ad-490a-8665-4abe811ebf02 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9d6e3979-2739-414d-9b03-038878f6ff7d phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a77ab3c5-82ab-4410-9361-528902e7cd2f phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e4ce1bcc-4454-4510-aa8d-277a0f5964f0 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b3d26990-3d9a-4fc4-b067-ff530ffdb184 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:52ab2201-bc67-48f0-9ccf-5e76fde93fc4 phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d583ccc9-a385-4b15-b298-3844ba44407d phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:e6df5a32-f640-4b70-bf49-3e5013d4bfdd phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:c579eb6f-069b-4864-a501-b1cabaf9942f phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:268096de-0346-4393-ba05-c1792ad85128 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:2d7acaa6-4503-43a0-b9cf-a48438f64002 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:db3ec897-14db-4493-8174-731862a64003 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:91cd8f27-22da-498d-a841-1ad37b2f3989 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:602be602-4411-4acf-97ad-392be3e87eab phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9bb3d7b8-55b2-4dad-9fcc-66635395ff7f phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:66a5eb8b-ec81-4b3c-b7a9-658f01f9a9fb phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:0512803a-fb81-4ff9-8b6d-ab27fbdd5702 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:65d1fd1a-fd60-4f5f-8962-15af955d58c0 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f488072d-7db0-49ea-b5b0-99371b6586ff phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:0698d498-0173-43a1-b62c-0467b14ce160 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:fb1781dc-2faf-4064-8964-2397f743fc55 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:cccf1218-59e4-45a5-acbc-2b9d345c1524 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:bb5e53d7-6f2e-4475-b4b1-97e267dea230 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:044ea59c-3579-4058-adaf-52e5615fc177 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:4903e3b0-082f-4c38-a660-a473e7d6b28d phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:ef4ddf96-154f-4ca8-9d2b-5181238ef9f6 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5a976cff-de06-4b5f-abdc-270cd45f89cc phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:29f6d050-a2ae-44a4-89f2-8ef768847f21 phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:f214e72c-2407-4759-8b61-594e152f6b56 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:3dee34b8-50d3-46f5-af1e-3ae0278a1d85 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:67cba844-173a-4769-a3d9-874d86cbe28c phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:5111a71b-be8c-4f27-b012-a2f7a8a0fcd2 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:502a0d4a-992a-4a52-b7ee-41f2aa9f7d84 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:9def20c1-0bb3-4233-93a0-ee284e200507 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:7cd3db8c-ef9a-4efa-a857-85181e631a0e phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:0e93cc2f-7216-493b-89d2-7d7720244119 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2752cfb8-f0cf-4c6c-b3e5-9940afc4673f phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:1ca8d6c8-a07e-4a82-9c78-8db026e91333 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:27d04cea-58cc-49d1-80ea-76f0bb8f7d14 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:49d64007-05b6-4bcc-ba9c-a8cc67ac0e78 phenopacket.store:POGZ.PMID_31782611_PT5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:79bbfc43-bfaf-4415-baec-72884a43378c phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:45503ed8-a0bb-4b54-abd5-e6c1b004a117 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:baf2fceb-8c20-4c80-a453-9f0ab545d6e5 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:1e6ff511-4381-4a81-9daa-73c8015a1a11 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:da7a0222-1bdc-46fd-bb57-bc4654a6e3a0 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:8bb8aadd-6781-470e-a6d9-148d4a0098e2 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:0320ba03-dc7a-42c8-86b8-5986d4b7756d phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:230d0020-749e-47cc-a862-4cae70b52df3 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:02884dce-36f9-4480-8d42-9e14a34b7532 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:a1d986d8-8edb-4bee-9a5b-8198e540871f phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:4173f862-4ea7-4e41-8440-76e772fd9d1b phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:18fadd96-95ee-4d87-ac0a-5ba27edf7fd0 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:0dd3ce0a-81a9-47fa-bffb-464dfd3d70f8 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:3f32db19-f033-4010-8d15-8e8670e9ea61 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:a067434e-3289-4b2f-8c02-86b93893d831 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:c72a9214-a8bb-465d-860b-fd3734c3d93c phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:da183bc7-1659-405f-aa52-ae8cd966d844 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:adf8841f-b6da-4ef1-9455-6cf6bd3fbc85 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d499e9a7-c4ec-442f-936c-a8890cc8e86c phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e6902a49-8701-4c50-a7fd-2df1a12886a8 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d47083c0-e3b3-476f-8346-b4f2d09792a6 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:8b527584-8db2-499e-a5b9-418f0eb65e35 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:466f47d0-26f2-49c0-8f5d-5dac403d2e4b phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:5613dbcf-a7d2-442d-acd8-a9a3b81b94eb phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:7e6d6c42-eae6-4f85-9728-95c31142ee6e phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:14fddf6b-379f-4b98-a5a6-44e27ce30527 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:9ef2c460-fd68-4940-a462-5267dc8f36b0 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:ac0d2c08-baab-4a92-ad13-f7b9fc71575a phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:ccecce11-bacc-4edf-98ed-d1c6235d9293 phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:aa9c390e-0b7b-4071-8e89-cf19d2bbeba6 phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:f7d623b8-455d-4984-a78c-cbc61b2c8eb4 phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:f368f36a-6dff-448b-8880-fce34838ef8f phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:9f78df0b-74dc-462b-a369-255597f13c38 phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:472c196a-ccdb-4b85-bd46-7aa769ccea90 phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:cdf72a9d-f918-4b14-8bfe-a78a812d6cd8 phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:0eeeace0-154b-4758-856a-7bd071a03f7f phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:d000ed65-acf2-4eca-a5ff-5f9fa99c205b phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:0566731a-ea42-4430-b46c-7fedd1e0c6d7 phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:3208d7c5-68b8-4123-9b8c-b97a8745e0cd phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:dc48458e-cbe4-4134-9f89-b965305504b6 phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:5fff9743-18ed-46a4-8006-f7e2eef0c9c1 phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:87be678b-740e-4a53-b7b9-b4b8a099fdef phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:4310fa80-ff27-46f8-888b-ece3b8e9cb38 phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:255bafb8-5803-4255-98b6-7d2be646e910 phenopacket.store:POGZ.PMID_31782611_PT21 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:adbb627a-2602-4134-b3c9-050c1c77049d phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:496e9e21-6bff-4e24-b24b-97ccfbe4b2c4 phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:2e0475ef-41c0-4b48-b3f3-967fa8c87055 phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9ff454e1-ed29-4934-8cea-e285eb70844e phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:8e80f878-a689-473b-b9e0-e89034496ba0 phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:e0a53fd3-c864-40a2-b80f-c5f5196f3c88 phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:c50cfc1e-d130-4300-8734-ebfebb638ccf phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:33ea8fa2-5077-42b1-84ae-fd3dffaabfc8 phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:2b77b6b1-ea03-48a9-8cc1-3fb7414cf6af phenopacket.store:POGZ.PMID_26942287_FR2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:4eed0aea-62a5-4a92-8889-1718fc8ce015 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:f991c845-8bbf-4bbb-b2eb-ebaae2cb8171 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:dee8ac23-9c84-4fa3-9e50-4c2d0d9cf5c9 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:c5bb1815-7ec8-464e-8c54-9f47d7e65e9c phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:517cae6b-fe0f-4da8-badf-e07b66a003e2 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:9d1e3afe-005e-4fbe-b20f-9ed2c4bd099e phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:deeb5986-5988-4c55-a032-b4329c0b12ed phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:27b7b6dd-2599-4005-811e-f57afef0c0cf phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:35479d79-22f2-4e58-9b83-8a5c509d4ade phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:6d497bce-5ae3-4950-a891-4a73c8962491 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:7b9108e9-f44a-4fa0-aaf2-81ce6f429598 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:ed4316e6-372a-470f-8a6c-33c19fdadebb phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148570 uuid:d574515a-3bd2-404c-afe0-0384059979df phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:f977c6f2-3ed6-48d0-b3fe-c8f8e70b2fe9 phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:3db2b515-ab0e-409c-94ca-0737b3835589 phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:bcff1072-8e49-4e11-a642-400f241382eb phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:d1fdbfb9-a615-49e6-bfce-6cbb0d5214ad phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c619f829-51ca-43cc-9bd5-b63cfd66efd7 phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9daddaeb-6c25-40a3-aa68-12d99a3611c6 phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:c9584a80-83c5-4f4c-9c26-ae65b7685108 phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:8f8e9fd2-8264-49ab-8469-726da7aa547a phenopacket.store:POGZ.PMID_26942287_EE5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:a7624f77-c7d5-4d5a-9ca1-40b0174268ce phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:7acb1534-4712-41c2-b28e-cfbb3a475e7c phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:b07d857c-31f9-4286-b75d-56b88cac88dc phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:7f72b00d-c4c7-4831-9236-46f09b624b71 phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:0a94bbc2-d2cd-4560-81c1-7fa3906cb123 phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a90c3a15-4a51-4046-8b4a-1b495271e65a phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:aa6821b0-1847-4eaf-8391-fff92b1c68c9 phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:f511511b-43c0-43d7-a4a5-db8f23da0cbc phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:51827023-569f-488c-a03e-f4afe8b8fa0a phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:b2cfc8c0-671e-43dd-b798-041bf239ba1d phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c6c924f2-7038-4a32-958d-d8d88623d18b phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:14730452-1c73-4a2d-910e-355e43483fca phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:eca17749-543d-4afe-81dd-6b9ab38adbf2 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:2ff02112-c62e-4867-8512-2fc5d422a27f phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:143f0220-e42d-4794-a1f5-3e0c5bb0ab2e phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:48665fca-d67a-48e2-accd-afd3bbc74e33 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7f3e5e18-c1ab-4f6a-b17b-5ecfc053ced7 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:34d88c36-3af6-4ec0-a855-5188a49fe32a phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:e5159b93-2218-4bc9-985a-02b9f4664890 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:31e6d97e-5232-4cc0-acb7-5ca6a31af9ba phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:246403a5-e744-4399-a0cb-c45f6084016e phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:34c7682e-6856-4a35-acf0-820b60b4fb9d phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:a0a2b833-fb33-4f6b-a1db-23a7d3bfd7f9 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:d2ffd7de-a7d1-4c21-81fb-ed6b374ed3c8 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:6cecd316-0a8b-43c7-96fa-77b39954bc16 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:392b392a-fd13-42b2-8fb4-7bef2dd888c6 phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:5e2c4ff8-e33b-4f1f-8520-c427908deed0 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b1c4fb6b-6b9c-424b-9c95-0a38f5528f9d phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c2cb4eee-1c4a-431c-8075-e621471ad3a3 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:5c157b6f-df36-47c8-818a-d6e886112bcd phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:223496f4-ea5d-4e72-8f45-836728ff350f phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:dadc80b2-dc78-453d-951c-3da188a9f7f5 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:798b3143-cdc6-491f-8279-784499cd53b0 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:46721b01-c4c3-4a3b-89f3-5f39162e97f0 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:34920472-d294-4767-927a-3f67340b2e80 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a429df5d-624e-40e8-a6ec-5de8a9729b25 phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:45a32e36-cee8-481b-bfd9-5691eb80fbfb phenopacket.store:POGZ.PMID_26942287_FR4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:8a129b4c-45b3-4721-9018-82fddd1c9470 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d0eefbdf-1208-4afb-b3bf-06e6e361529e phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:381c881b-9798-49ea-81ad-574c48eab598 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d8d09ca8-8b8d-41dd-af9d-6084b7577550 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:982a9cf1-8820-4127-b84c-86765068cea6 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:7bd6d554-580c-4024-a0da-83c1f0d9becb phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:827287d5-a3c5-4fa2-80b3-df89d8ba06b2 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:a4221439-0b54-4844-a1a5-2ab7d917d811 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:5e09c548-b82e-43ad-8f07-5135ebeb3f96 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:cfec6fb5-36ae-4977-a42b-9fb57278bc60 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:6a23deaf-62bb-4266-aabb-72e11f5e93db phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:57f18edf-7d11-4a19-8b94-9c52a0f3d383 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:592ec519-d520-4e24-bbef-8428ef2724a1 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:809d25c4-6390-4f32-b78b-6677cdb4d29e phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:667e953d-4ae8-41dd-a1c2-03a9cd898b32 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:2a9ef961-3917-490a-889b-a2b277cb1e62 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:c8d240d1-c01e-433e-9889-233b6a0b6f52 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:b995645b-42be-41df-aaf8-7146258801d8 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:9f164e3f-ec2b-4423-9d73-215b0d0e21b2 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:da022bd0-e8c4-49e4-89a5-7b77565fb818 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:10d2b17b-7f2e-4a93-80ff-80f64c7345e5 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:7e7a9f80-a942-4fa7-a2d3-e7beaa8eda15 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d17b2aec-0b5c-4a00-af0d-ea70f84b505d phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:a983af45-fa44-42e3-908b-740c923103e4 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:867c2203-427b-4bc8-b0ae-0687f4e1f19f phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:f651eb51-1bf2-4e1a-9b0e-798a96d5df9c phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:38904c37-b689-4b00-b8e4-28a3c97b424c phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e97e9e7a-e987-4956-9d4a-a91ba6f4f1da phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:f2e45996-6a8f-4c84-a518-f9e24e148fa5 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e2a0fda6-dfe8-47bf-b337-d819fbf7ecf0 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:9c3613aa-7214-48ce-becb-526ac2c77477 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:ea3f9f68-c22f-4f76-aff3-fddd0cee5bbb phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:92a925e8-1339-4d17-9dfa-427867b65ceb phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:eedd0f83-4e22-44fe-a7ff-1efdc9701b77 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:a8891b1f-6c33-46a0-96bf-60105ef71004 phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:ad29a4de-64c7-4b5e-88bc-952ec42461cc phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:25aede26-426a-4fec-af94-ded578e9ad82 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7547cde8-c638-479c-a48d-68e19d317bb6 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c7e2f15d-5284-496c-8c0b-f2ae98130fa8 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5ce1d62b-bc6d-4f7b-a569-08231ee53109 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:68d1ef10-9082-4ae8-be38-9afe7ba800e9 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c728f7b7-7d62-4602-b80a-10f756f9000b phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:415620f2-9180-4988-aae4-74b99f6ee22e phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2fe43eb2-dbfa-437b-9d74-401e4fa11503 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:05793740-632e-4b0b-8475-6a512f54b922 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ea760986-7810-4325-973c-8ba7461b09b0 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:17e391d9-84cc-46c0-9ae8-58923cc56254 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:328d4d10-7219-4f3b-807b-18f6447f22db phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b9aed56a-577a-495d-b2ff-969a5b324bce phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6b0ac252-131f-49df-8729-41e07ef6977b phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:33cd5d61-1095-4aa7-b7d6-8545fe025b69 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0158b2c0-adcd-4de4-9df1-991939cb2ec4 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f91df620-4094-4b1c-af1c-820b5ee15871 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:45b53db1-51aa-49e6-b241-60157ae5283d phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9282472e-9f57-40e3-be94-ce309a54e7dc phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:61c35634-eee7-4e8c-927a-014eeee4cf32 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8bc90ded-393a-4ebf-a71a-b7d872a4fa18 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a9a4d339-262a-4fc4-a6ae-a7306f7e6ba9 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:39cbddd3-c796-452a-b1d6-d42873dbbc74 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:09eeeff6-7de6-464c-ab1a-5fbd5038e302 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:471e0cd1-c840-4eab-9599-dda133e92065 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:79f00808-901b-4f25-8abd-f8dcbb2d6248 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f392fded-87fd-49fb-9a2c-ab8b5b1eaf02 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:53c1ad56-947c-4e48-a3d9-285228acf28a phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b3b300f6-22af-49cd-9657-69cec6603ab8 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:38433376-106b-4663-a146-60c10e8eca1b phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:39be0567-c6e4-4f34-91c5-88377c1f9f04 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:873156fc-354c-4f68-8ad4-deb118297b36 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2b65a4d3-9158-440b-b409-a3e019aa5561 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:84d174d3-ef41-44bd-98d5-d9eac8f2f2aa phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3b1e9e3a-688e-4f38-aaae-4d1d4ad007c0 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:460d7a37-de33-4b29-974c-8bd40211c332 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e03f9c5e-7650-4bcb-a117-06f097f448da phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:83841dd9-3459-4e70-96a5-0972912ea277 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:794d8b80-8d01-4b54-b1ba-6914d52b29e6 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8491de66-098a-4c18-9043-96499efdf7a8 phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:ac23755b-185f-4476-9772-4c2bd20be9eb phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:e7e20561-0ed7-4cda-a13d-7ba84871d281 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a6214e2a-ecef-4421-abcc-e51fb94f9572 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:f82a40fb-2c81-46cf-91d5-2def2fb5e66b phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9cb86cc1-dca5-46a5-8ff7-bd65852dcf9d phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:f10868d2-3ad9-4eac-9a27-9da04614d3b3 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:34776871-86e7-450c-b5c9-3b12e6ce7a73 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:06c32216-a89a-417a-bc54-4d3c78611c63 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ace087c7-80a3-442a-9e87-e5ba439cd8ec phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b21a2418-74d0-4dd0-974b-4093deb78f91 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:8621cf6d-3b2d-46b0-87ef-1b43e8b99516 phenopacket.store:POGZ.PMID_26942287_FR3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:10150320-3e98-4680-b27e-2b37c14b630c phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:334a98ec-4680-4bed-ad8a-fde60e0f6413 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:4a945460-d4af-455e-880d-58282f36c857 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:cb5a469d-62fa-42f8-9112-75c643c796f2 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:d9210572-0e50-4217-9e9c-53edb3358246 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:d4b279bd-d90e-4ea0-861a-b57f4fac449c phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:59507b58-9146-45f5-8a6e-48f1d5a5eb26 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:3d669b9e-4679-410e-bc58-03cf7e84816b phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:61508de5-600e-4079-ba88-fa5f2d8e1df6 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:d7b1dfb5-e8d3-48fd-974b-ea91ac8ef429 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:5a1dd41d-5915-4009-b8ef-9acd5b16652a phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:db049200-aa29-4a79-b7b7-ae1e56dae405 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:601da3e8-2666-4cbc-b750-c92654c58321 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:46d7a5f5-5fbb-48f6-a39c-523709b0ba5f phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:0c1ba911-f67d-43a5-b44c-9bb4cb31d059 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26763879 uuid:c3d00e2f-f3c4-4a0e-ae97-0490376a68ab phenopacket.store:POGZ.PMID_26763879_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26763879 uuid:ad504519-1c03-48da-afcc-d346b8580674 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26763879 uuid:958f1639-d9c6-404f-b1d8-be3d32133ac7 phenopacket.store:POGZ.PMID_26763879_patient biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26763879 uuid:c338a89d-6247-4455-ac03-e2a28e3e75b2 phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:3745f81a-1dd0-4c93-a329-d6a864024c05 phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:e7e74672-b040-4f6a-812d-65e5efaf8b0b phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:fcab90fa-b6ee-4a6f-ab8d-4f2ad55e405c phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:7e0d7fd4-4df3-4359-8d99-ac9b38c9784d phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:84cda3b1-555a-4974-84bd-00c1cb01ede6 phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:9133255b-8c4a-4e1d-a1d2-561ad41f7bff phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:9c139189-1523-4525-9420-dea8109c8d2c phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:909ac349-ae61-44e5-9397-03d4730f8ea8 phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:2f762721-6983-4286-9642-195ee0ea5409 phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:1e268878-464c-4a08-acfb-c7a185b75011 phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:fb7f748e-85c5-43f8-b9f6-5e2ebc9999eb phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c9e5889e-5502-4249-ae00-1c24b36b4b5e phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:cbe7b884-0e67-400b-a4c5-c2fe17590248 phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:6bb638bf-dbd1-476c-9ccb-6672e483a341 phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:20b7465d-1f13-4937-94a8-e7648c70588a phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:73eab951-d56f-4e83-921c-ed9e948c40d8 phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:0dfefc1e-bcf5-436f-842c-1a5d0cb1a32a phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:03282f81-b5fd-4fb2-a0f9-fd12ad2ccd70 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:3435e941-38c2-44b4-b810-0c799cd5adae phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:27f6a5fb-e094-40f1-8f23-e88a91c2e653 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:393bd834-2b0a-4ed2-84e1-be4d00f12d5a phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:4b4d7326-7b4c-448a-8fb4-8e5bcb448054 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:03013701-fb4b-492d-ae74-1b69c03852e4 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:24ae8e7f-7b2c-43b3-9c6c-f61d80b225f0 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:21fb2886-a48d-4e16-9127-1b9b5e43d602 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:11b2ca2f-8740-4b32-9df8-cd55b1438b25 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:fb1961cb-2f62-4390-9874-5f8329526c62 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5ac03f1e-402c-4ed4-9607-1d4d78ceb95a phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:37df229f-03cf-43d8-b5ab-ad2f5db95481 phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:7afb7848-4d0a-4976-8e22-52c68771f820 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:bbdcafb6-14c0-49bc-92d1-27a477dfef4e phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b8b2bc98-f95c-47e7-aaaa-fafd37833b02 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e568020d-3e7d-413c-a3eb-610c244f9ff0 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c917c058-d117-4d81-8f0a-fa1e4b8022b2 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:65fb33b9-c01b-4205-9ed3-ad6e0527cb20 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:861ad62d-1dcb-441c-81ec-cac0d960517e phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:3cf5d321-736d-4848-8427-1483665e9abd phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:3bea5543-72f2-4ad7-81e1-dc15d314b176 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ff0bfdf2-d844-48e9-be35-6ca56a06a01f phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:e302ec58-6105-4a7b-a4c9-9a12432bfc76 phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:9e17b71e-b801-4ff0-9b88-53c8ec7f1e2d phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:ae579433-fbb9-4266-8057-5b3382f0cd79 phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:f50a2599-af9b-4afb-bcc4-7240a89d8383 phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:dddfdce6-1d70-4c20-adbc-f64827a5687a phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148570 uuid:771da656-dd8c-4538-b979-0d240def5903 phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:63b91687-9c37-400f-95ea-f4629bb773ed phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:27f77872-f093-4132-a9a6-bde51c2616ca phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:7ce7a487-7f96-4e3f-8741-4c5449b709a2 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:796ebbaf-ceb1-47df-b874-424517bfbdf3 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:a1cd753f-7c5c-4b4e-a5ef-429ca78e4862 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:1718bee3-9318-48a4-a94d-57b6a053bf41 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:5fd28035-4ee7-4223-86e3-0fcc2241f3b0 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:4059290f-5367-413a-b7ca-1128d376b03b phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:20009776-de0a-48b5-827f-2439026246f1 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:9acbb8c4-4cb9-4de6-beea-ed0c901d0cb1 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:ed0b8482-47d0-4aee-ae1d-518dbdb812e6 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:7bbeffbf-abbc-4d40-89a2-e6a331d98530 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:e50a6270-84b3-4c89-a911-b3b8dea76b66 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:a306d96b-d69b-44f6-968d-116ca4a23cb3 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:c9607d1b-6550-4966-9dcc-31443c69fa11 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:abf610f4-7188-4b4f-a5a5-6a0038d6d660 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:89dac645-9a3b-44e8-9868-0e13ed1117e2 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:fd1085fa-5005-456a-a5a5-88db61b435d3 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:c5239ac6-1573-42f0-a2e5-ee94b80a1c15 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:69258653-a430-4c13-b4a0-465870b96de0 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:c3841d08-9e67-4e78-9a24-8842776464e7 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:8031380f-3865-4797-9cb7-d8a19465504b phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:e32dcbfd-316a-4347-b04f-da8be712afd0 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:b0a2f7ae-d319-4249-8e49-2534ac8111fe phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:ef1dfa11-501b-4176-9ff3-d23a0788593a phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:c4959e4a-76fb-4f09-99c8-a5a6c03409aa phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:3e192650-baae-4b9a-8c58-804fe10b58c2 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:71dd2993-498b-4df4-b01c-44ddf062bc01 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:5ff733c9-58b0-4bd6-a098-46151d29758f phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34206215 uuid:5049e740-f35e-4467-bc17-27ce6fd13420 phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34206215 uuid:e2986b83-0747-4d25-ba8c-ccea6302713e phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34206215 uuid:2abd7838-b400-49fc-b49a-3fead1d871aa phenopacket.store:POGZ.PMID_34206215_case_report biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34206215 uuid:0422567a-354d-4e42-8fd5-a9e50d241430 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b089a93c-82ea-441f-a8bc-013ac295cf15 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9692698c-8291-49ba-92f7-ed7f0fdaa80e phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:6e128fe7-0cb5-4fee-acb2-a06216b74540 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b742042f-a0d7-4c56-978c-fd556c34f5d6 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:2f57903f-163c-4c9a-8d96-83ea90338da7 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4683f734-ae26-4991-adbb-7241a988cdd3 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7c062d1f-bbc0-42f6-91f5-5e285794ea7d phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:6d5122b3-1b8e-4fe5-a213-388698ed98fa phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:d41058ee-9492-447e-a540-f39dab20d3b9 phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:53ff4650-b1f5-4ec9-994a-13acff78c4d4 phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2f935519-0ca2-4198-a81a-86bdfc6973c9 phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:5a786034-5294-4f3d-9012-52dc0a6ee942 phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:14ef4f42-13af-4db2-b150-f621cbac1566 phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:0abfb913-f76a-4625-830e-b1e22e2f774a phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:4fc15ad1-b67e-4c28-be83-f9a50cb58606 phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:07e224c1-b139-43de-9030-5e64666d67fd phenopacket.store:POGZ.PMID_31782611_PT10 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:268276cb-b620-470e-9ba1-ba345ae2a55e phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:529cf979-79b0-43a6-b885-0b217cacf1c9 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:421c144b-9f7d-455a-81ed-d59a2c554d23 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5bf457d1-ab8e-4330-81c2-3ae069aa69e1 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:adaa6859-13f1-4cc8-8ccb-7be6969c6851 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c7bdf3df-29bf-4733-92d5-c38a069a2a9d phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5dc00f25-16fb-4906-8046-b82d96fe6d30 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c3f7253b-8910-4a34-b81a-0a4fd73fae98 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7d6532ef-1406-4ee2-ba44-7f475387ddf1 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0a3e8cb6-05df-464e-a430-914d4ed88c14 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c2d708e6-ab09-4261-a0a9-f26ae76551d7 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9ae65737-5769-4ef0-b868-605b988d690f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5b248654-d793-4178-a402-d4b2871b6245 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0e6ef6df-5bae-4332-ad70-500399d15c35 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:8984fc5b-8002-4df4-ae7f-1ce53fe5e8fc phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d5045207-439a-4c93-8c19-601747f12ed8 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2b72a12d-2db3-4e3f-a6f5-622810320f3f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:627fc246-1f03-4f19-9ba8-1da485c7f16b phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9d961ffa-e0dd-43f5-ba92-94084b6507ef phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:05209d88-acd2-4f03-bea2-45717fa8c8e5 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:41589ea0-4c58-482e-b9ef-d9d730266620 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:61ffd075-cb99-4658-b42a-482806defc8a phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fac3d703-cdb4-4417-9b8f-e50d3e42ddc9 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:19ad8096-ebad-404a-900a-88e71eb79acc phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2b52cb79-d0e9-4b10-865c-5f7ef768ecc2 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:bf3d75b4-0284-4d54-a69c-c3d186435c3a phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:20f69aee-f4a3-42af-9c26-6a22014fc733 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:94a938c8-f73e-4938-91c3-af37722d1b0f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b6eb3eea-9c97-43aa-a43b-156d3149688f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7572b0d4-0eb0-464a-8dd8-e176f97df2b9 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7ead8fc8-f4a9-4fa1-8908-ab0f8f4e2d49 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:524b9cb6-060d-4b80-b673-8a536a7863aa phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:541cfd35-eed2-4368-810b-de53a81e5661 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ef32eda5-cb76-4959-9301-ccabe7743938 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:787ce0f3-a2ae-44ff-8c8e-d8da170fe346 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0aad3e37-44a2-4b90-b8ac-3ee7bad58fe7 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:57eaac64-434e-4f45-adad-708dcc45c45e phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1e8af9a6-ba2c-4da5-a456-ec3629e8c68f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:462178ca-eac9-49c2-be80-ba8aa5d5f1fa phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1d173317-56b8-4645-96ca-4fbae0815cdd phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:83d6d32f-2ce2-4200-a906-0d58d3039cd8 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:165e4efe-98fc-4f76-8614-79dd9f12f6e6 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:27a3b461-a583-41da-94b7-b3a0e17e15ce phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a5161a2d-b23e-4f10-86c9-6332780cbd7e phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:71e0b606-f542-4a66-a3c2-552501c4d1cb phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c0f2a587-6a7a-4d36-81c1-5e19a4ebf4c2 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e621a932-69b6-4d7d-ae63-8d2cb26ee3a8 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ad6dffef-1f14-4f39-98c2-4f35a90d1e6a phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2b7ad85e-63a0-4ea0-8a25-b388c40d9f24 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5d18b89c-19c7-452e-848e-96632b82d53e phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5fabc40d-040f-401c-8f95-e547c951f574 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5195e74f-c299-4fe7-9c70-2c75dd03a119 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:47336107-2f74-4944-a49c-e93e946e1357 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a172ccc9-9722-45b5-865e-d2b0121d9674 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ef9ee9c3-1c93-43d8-8a91-32df408a3861 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1cb1e0b8-9b58-4062-8653-6a805ea45bcf phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b65f1b4e-50f1-432b-9cbc-73de568b84b3 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:db1cc0f8-3497-432a-95eb-4714f94c2c1b phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bd43ec90-403b-4482-ae8d-928469401590 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5bfa1b9d-26f9-4465-b621-54470a9a3448 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9db14edf-7a55-48ff-ab2d-86378b0c9ed4 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5618469c-8c8f-4db2-b146-04d832d23743 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8bc272a9-947f-427b-9700-4d763b64fc49 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:57c2d404-be85-40af-a69b-6163f762185f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d00c0ca8-acf9-4bbf-97d6-ed8e1a64bc66 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b3f5259f-7933-49d1-8dbf-6713d51db58f phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7de8e516-c007-4dbb-b1da-2569d0939a4d phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:cb2550d3-c825-46c8-a9a5-29abd3336f7a phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6a92c03e-98e2-4f0a-a7ae-bc7838e2f97d phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a649100a-7e02-4ceb-b91c-00fd105dfc77 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:804ba7d6-eef3-4af1-947b-66f3364f54ba phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d04fa3ec-ad39-425a-8ef1-56764b3aca2c phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2d18b0fb-cd14-459c-8198-f24a97fdb5fa phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:668058b9-dad1-4782-80bf-e68cc34381ef phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ee42508c-cf77-46f4-b627-beba0a68688b phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9b28c554-8ec1-4b7c-88aa-348de8c76428 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bd5ba0ca-5d76-4b3b-b916-2c870ab393f0 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:54729904-10eb-49ce-b0c5-59288462fec7 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4db8c89c-e1ec-4ec2-a45d-2d439ebbcc35 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:187cd07a-e99f-42c0-aa5b-33e8d3e69389 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0e0e8b4f-11a4-4dcd-9479-bc21edec69eb phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6699f0a3-169a-4389-8f9d-9e2502ae7414 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8c2c493c-6466-4607-b4a8-a1475482ffa6 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bff4ad85-1243-4d11-967b-fbc04f63ac91 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:16a5cb16-c9cc-4ca8-b1ff-ad3182029f66 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5c8a187d-0d49-41f5-a14b-f33606459d26 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:f4eabe6a-b509-415f-b266-688c4544e9f5 phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:59bcd26a-daad-40ec-ae0e-65f2a557cba1 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:b610cc07-599b-4612-a3f0-bdf6f4c3ed5a phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:6872f618-6ab2-43af-925d-7f7694d0b5a9 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:4f5d4150-97a2-4166-b829-4f7dae1d97c5 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e19d6309-d415-49b9-a6e6-1fc75f522872 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:55fb1831-42f2-4436-b7e0-131447b10174 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:02161ab7-52c9-43e7-998f-efe8510a80e7 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:bc3ab471-a548-4e0d-b26a-a6b1ff4a97ac phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:edf96ae2-6b16-4a28-a71d-67042b63e11b phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:88a45f3a-6342-4700-9230-53b97df3fbab phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:5084f53a-6b17-4fa9-9846-549f6fbd581b phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:c0808485-ea11-4c16-b63c-d6a3e0e58a55 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:b6e44ef8-288b-4dae-9351-a48f564559de phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:281b3e77-db3f-4cde-bdda-2d18366e8e34 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:fb961080-ff6b-42f0-9144-22241ad1f949 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:85c49313-9428-470c-9919-6adcc838330b phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:b8ab1e4f-799d-4973-aec2-fa0298830860 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d37ffca3-8c2c-4c6a-ab82-18410a00b31b phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:3a63cf6b-7a1c-42be-bbdd-7778aa4be270 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d0467c83-b829-49d7-9ce1-75e4c447b27f phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:9adb890a-0086-4796-a43c-e22a861064df phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:ea2eead9-47e6-4671-b5e0-490c44803865 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:bf46fb38-9c22-474c-bd0c-36557621c85b phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:601df184-e0c3-4ed8-b86b-d6f5a7a8ed77 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:d3f885b6-39a0-4675-81f9-c020645eba50 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:a0f4ad6f-dfc1-49b1-9374-88c69d0af180 phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:7e76e039-db99-4622-9717-bf8604634734 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5c1b0a52-8ffe-4f17-943a-7b7a90513ccb phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6282c7c6-c6df-4487-baa4-27ca4e2ad1e8 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:abab4b11-dfa3-4173-9cc2-f332bd5928c7 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:3dce67db-e683-4523-b924-91c1a14daa93 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c99b8f97-fad6-4132-81f0-6a1813ebd9ea phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c1d86ac5-90f8-42ad-b0cf-f7c07432af4a phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fc5b06ab-2690-43a7-ba40-270e3f6a4a4f phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:336da95d-8c0e-487e-9c03-7dcdf3cef0bd phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:42a6f91c-b461-4566-927b-9b17beecdae6 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9e28e2e8-df04-403d-a145-57de6a854e02 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:646459be-dd84-432f-ad8a-d3ac03005a9d phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d53d61b9-b6a9-4155-a15d-c06aace96a2a phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ea21349d-803c-4093-84e5-1b7a63ce4cff phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0a3186b2-64fe-4b35-9069-833ca4ccb5ab phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:906da30c-9060-4512-8bb7-79aaaef9fc9d phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:005a8622-607b-478a-b5cd-034a3a8e2d4c phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:edbf21db-45a9-4888-8212-5470eaf06469 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7525e8eb-5114-488f-b9bf-85693a87081f phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b05dbb7d-6c94-47ea-bbf4-c267c33c2771 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a24435a6-255e-43a3-8946-fdcbee525476 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:641a6633-48e9-4886-989a-571fe66155de phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:561c021d-ee97-4a82-a6b5-78292265861f phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cec446e8-0867-4e10-ac03-7b5337787732 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0da9ddc3-92eb-41f5-a6c8-ab2d179dfc36 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6d7549ec-bba8-411e-b514-1cedf302043e phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0eb00d5e-fe78-41a7-a845-19d6d9e00892 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:59b6ed5f-c228-4d16-8869-b0a5b4fc38be phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:1b8389e4-7c91-4a13-9c63-4fa3ad0d4224 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:3b36dff2-c890-44ec-806e-e500cd8afea0 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:47dbc3c5-c901-4baf-9f0d-76787c04a462 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:de43253f-9d6e-4ac1-8765-4f92cbabb074 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c04ba14b-57d5-41f5-a91d-9c9dc1e36e67 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2ccc7fc3-fb1a-470a-a357-83f33902dee3 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:79006cc5-8b02-4c71-befd-922ad921c265 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:de324446-f16f-40f3-8c6d-4575dab37628 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:250d324f-1ba6-4b8d-9c45-114743ad8c6a phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:202e2bd6-3b4e-40f0-af0f-ccd1f984e1bd phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2f99250e-f4cc-4761-a7f9-12b38ea020ea phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:82ae8de5-d8cd-4906-92b9-5bb67309aa2c phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c9f3ab19-e5da-4ae4-87d0-d768cc46641c phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f361eb69-400a-46f8-89bd-c20aae63497a phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:df8b320a-544c-4168-b467-d71f93f215b5 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:972cbfa6-3e6a-4b60-8d86-1cf0c996fd8e phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:67768665-3960-41c6-9c23-bd3d91c377b0 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ee68fb37-165e-4232-837a-b5c02688c0bb phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a0906b48-659d-4d96-9585-62afe01bb58d phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cc6a103d-2939-4ac6-92f5-fd3d40a39051 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:05f7257d-e142-437f-953b-8b92ec960c96 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:249427ab-6a3d-424c-82f6-661b69b5d4d0 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b658abaa-247c-4a0d-8fc2-fbb0bfc4ba02 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:72165836-fcb4-4d7c-bd28-63abbe4a68a2 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c190477a-8dfb-4d92-a68e-336d2b19f1d7 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c94e887f-7ff8-4f52-b56a-2b7a790e60af phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:054beb76-3068-4097-b479-c3fd70a2761e phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c5edd3c7-23f9-456a-9b4e-83b003f5c216 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:70919a77-bd7f-4230-b195-e4db3c63e5a5 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:8e0863ee-5282-47d3-a253-d5b672f53c36 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ef2544af-42ac-400b-9b71-3b0d1d45130d phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:320571a5-9777-4066-96e3-884d8cac4153 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a6ec8429-47d4-43bc-81dd-f78c75f00259 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:67f64f2d-7ec0-440f-97fc-337021a561b0 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c80874a0-777c-460c-91f7-d8ff6f5a1b54 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:78042608-b9c3-44c3-9a4d-ca33d1712bfe phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:640189ab-08f2-4e56-a4f5-a7bd9440e25d phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b8913c94-7c28-4af2-8884-dc1a6214a79e phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:35f4db61-a001-4ea5-bc18-df1285b823b1 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:89fb394b-9ce5-4532-946f-333edc1ebebb phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:be11f5d3-ea38-4c25-a044-a3df0935670c phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1cec6932-ec03-4189-b151-9fb9c81b0975 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4f6af7d9-9d15-41ec-b347-c7e907066483 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ee388542-8287-49c9-94e1-156781b9e93b phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:772314a2-72e6-4a1d-9e07-a6f4f02dfa88 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:987fe9d7-167f-48f9-bb8e-150b24607f13 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0c5bfe69-7b12-4f52-81f0-653d5c6a4eb9 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:315147f6-c028-47a9-b4d4-d1999354a611 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:eb9a204d-9aab-4219-91e0-753decfa8824 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:aab7a769-d5d5-4e90-b5c4-8da4f4c4940f phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:efc5c826-3a37-4876-9cff-faa2c3d33349 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c3ad10aa-f997-4a0c-82f9-98bbd7c03831 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:42349121-0c58-4c95-abc0-ce4f07287a2e phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:341b8577-77b4-4a45-8c8c-24441e4518fc phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:047854b7-7b78-4091-a4c6-26793cfee437 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ae52bab2-c4b2-45ac-adc8-e58e6cdd471b phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:973f30ce-ba0f-4f56-8570-d0a9794ce11f phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1edf16c4-1a3e-4d2a-8758-f30b9a78e853 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f13bdd5d-2af1-45eb-a820-07dda59a2d94 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:a1003345-a653-48ca-87bc-f8471053f2e2 phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:e6b66ae9-ca44-467b-9d5a-d08eaf4fd632 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:4d5d950f-4f54-43e5-b604-3d373715bb7b phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:4a729766-6724-41b4-bff5-7495ceefa768 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:102477e0-658f-40e7-aa0c-2f76a9c46132 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:97e3259f-9e13-4998-8516-66cf3bf7b338 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:ea7141af-efbd-4bf9-a5e4-e69897d6af5e phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:21dd3974-a149-4eff-ae72-fdb7692d453f phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e3360ed5-8f13-49bc-9653-294dfcfe6e59 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:81b76e75-6521-42ef-b620-f57eb0367fae phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:6da8803f-bd63-4a09-b071-026f4259e176 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:7dc48d5b-496b-4c6c-9751-aa5ed96d42ac phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:81436b34-737c-4cab-8512-32f619f64c41 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:687bd007-f7cc-46e5-9229-d727543a713b phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:bba12393-9663-4412-b973-35a0e4390f4e phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:53366d91-1b1d-48dd-a177-8711573459fe phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:6db066a7-626a-4e74-b469-aa5086f835a7 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:20421a93-5079-4a4f-a06a-30f78ebfb4f9 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e942f5b4-c0db-4fd6-9379-da6b4661d4bf phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:f201b5ae-6208-41e1-8c2a-06a29f9e8baa phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:c2f56bb2-f97b-4746-8677-3173fe411fa7 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:23223ded-8151-44f7-a487-2a75eb976644 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:87deb645-4ccb-4994-bf6c-37a62748d288 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:16a5a9b2-c9a5-4a7c-9a40-d832a3b43739 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:8ae4dd4a-eaea-4db8-a1e3-0d3c1ccba7c3 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:a8b7975b-c72f-4570-a869-093419997537 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:06c3eabd-f472-4f6a-b6a1-d36c94e28997 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:2bbb3772-b355-433a-bdac-d492c4978809 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:8e410a20-17e6-4a8a-83b9-fa3da91963a2 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:af7e724d-0517-48ce-92dc-366c8364cc3b phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:cfad7ae6-0646-4480-ba35-1311a692955d phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:561c763b-d4fb-496b-9c99-9d743edea78a phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:2e88c891-7223-4ee2-a112-f0d3c23142b0 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:6cbec4b4-23b4-4dbe-93ba-f0449e98c16a phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:070051e3-2edc-458b-b11e-b72c377cf4be phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:461bb712-fe79-4a7e-9a35-a82ddc333dc7 phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:498e5b9c-6099-4d05-804f-a67d2ad6d33c phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27824329 uuid:49f01bd7-afb6-47de-b421-59eca2105d76 phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27824329 uuid:6e1d4a8f-4f27-4760-9663-8399b72090a6 phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27824329 uuid:6b48665f-de9e-4ba5-8e84-f41938366dc3 phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27824329 uuid:c2f3d75d-0289-4371-a7c8-ddc8fdd5e4f3 phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27824329 uuid:802cc0d3-82d3-46ee-a89d-0369168c2c1f phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27824329 uuid:ce06fb88-08f2-423b-9072-c2083ad01b97 phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27824329 uuid:861d157b-bc5c-4137-ae9e-626b682b942a phenopacket.store:POGZ.PMID_27824329_M19813 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27824329 uuid:ef9f29c1-8dd5-4732-a59d-987d5a3e02f2 phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:495d6444-7100-4628-a7a5-c1cf97cc27ab phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:039884e7-882c-4b01-aeee-9849d9f54682 phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:7e41bd8b-6283-4577-b1ae-654f981ba2bd phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:1c15bc2a-11a3-4c58-9d0c-f7d2e3db4480 phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:11380cbc-8177-473f-b200-e2a3e95339e4 phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:2453014b-9e00-435f-96fa-ffc2d7b0d22b phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:e10ffc31-9b8a-452d-9516-c5bd453867a5 phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:440e7c9a-481f-46db-8a3e-ecfc1afd519f phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:45a7793f-3916-4dfc-9993-ae4413e86869 phenopacket.store:POGZ.PMID_31782611_PT23 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:945039fd-4166-41d8-9fda-f9319bf5fd74 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2488b631-2ac4-480e-9060-1d002b8edd9d phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:59bb0da6-7bf1-479b-b797-db5b729c88be phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:08ff4ff3-3a2c-46f8-8962-c5c8b22a72b7 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:786896ec-f111-4075-b00b-d0d4f5784d32 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:92648118-eaf6-4bdf-a72f-819b5f91ff94 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:85a5436a-94ca-4940-9dc0-f56082656e4b phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:48a226b2-f219-4243-a82e-ff9bc3a11ef3 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e0ecc0cf-502b-4d6f-88a4-47f98c55aec7 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:87bbc583-0fe3-4429-9435-78b03cf31d81 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:26e5106e-cfee-46b4-83ee-ad2a60897acb phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:abc3d293-6915-4daa-bad0-1e912261d091 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6229a1a0-5ca0-48ea-a859-4285499b1078 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6ce74cd4-cafc-4a67-8a2b-60e6356ca436 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ba1d8e72-b2f5-4800-9392-8d1f49dab333 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:30f2c5f5-cfaa-4ca2-a2ed-1e38ddd59e8f phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6a547fb7-696c-4e8c-81e2-02d9342f4163 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:acab64eb-4bb0-4244-9026-15f84ae52eb6 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ad4a1c9d-8328-47d4-a91b-c7a0cc5757a7 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:653e630c-81e3-4b7f-ab98-03958e06dd92 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fe259076-b6b4-4207-b2da-4781c1273c03 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:00fd865e-1194-4e5a-b74d-7fc7b91a2b86 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:77a3d8f7-c291-4e44-858e-2d748e95ddd5 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:610d1afe-40f3-4b43-a6c4-c5da26b4b33c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:4844acaf-2011-4732-8762-3fc3cec0af70 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:55d01f27-f073-4deb-9959-a5333740e03f phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2d5d8789-839a-4445-af84-292e4d473f92 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f5ac2f8d-bcca-4378-a9e8-547d441febf2 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ebea9a09-c8d6-45a9-adeb-847270afe6a0 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:263edf7d-4917-4263-a2bd-9dd337c0fcae phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:5a82a64d-ebd0-4a0d-a6af-bae253ba706d phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:df407643-0ee0-4a46-b469-f130fea17927 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e2778b5a-063f-4939-9448-2de89a69e519 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cdfac6e9-e4b0-4e40-9f66-cf235b13098c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a683e750-b13c-470a-a581-08f2c8172cd2 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:bd46290d-a037-4c06-a759-ee419164f98c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:746ffb5b-5fba-4d18-bc27-5b8099950ee3 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:8ae220d5-1027-42a7-be35-ba4a553c23cc phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:101baf64-c1ea-473f-8138-0a24fd98c634 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2ec38565-a4ca-4454-b7ce-0bfb9669bf98 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2af8c97b-c725-4589-8a33-e98f4f6d3a5e phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7a6921da-6f76-4403-8cd2-d37aa134b16b phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:65534a84-db45-4984-aa05-6b2eb206a2df phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c857a174-7371-4100-83d6-f20f38c7e0f4 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3ab830d8-09af-41f0-a103-299b22680df7 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:17d2fcb0-2b62-4638-bb8a-487567e5138a phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:82a71f65-8555-4b30-a6d1-bbb8e78167ba phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6891d2f4-bba7-482c-86c9-1b8d8baf2ec7 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9534ca85-8836-4215-9330-334debf8cb9a phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ade31d92-4dd4-40ee-b74f-40206f81b480 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5e948ce5-be16-449e-864e-93b2ac7f5ce5 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b2ab4ab8-3d60-451a-858b-bebd29322a50 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:27b253d5-146f-4c00-ba09-6dd9057e858d phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b8fcc586-92b1-4d27-aade-31efe433d608 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ee12d46b-ca00-4281-bad7-35ff4ad79813 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:375f65e7-52ae-410a-a1b5-773edeef41f4 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:cac55c4c-8c3c-4837-90bc-d26f4bc6ad83 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dbfce5f3-a7c6-49f9-9f90-52449d2b84b5 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:da7c62f4-9a05-4db6-a4f5-9e2e27e58fbc phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e3e36fa3-c003-482b-9ff1-56df5080cae9 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0636ee7c-ed60-4fde-aa24-e4863df23b92 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9e75330e-b488-492d-9da3-d627c4ee9c21 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:975493ae-cac3-4599-8edf-a2f9bbf972fe phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7494bf96-fe53-464f-9ca3-8ee70f938c9b phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:47cdb71c-ccab-478e-9da5-0c1d39562f0b phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ba1b6314-88e1-4792-b124-506df1ee5145 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b78d2bb9-753f-4d09-8359-58fde841b5af phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f39a8b85-eb3c-46c9-9239-50750fb9588e phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:349cb5a8-7186-4def-9d75-84da4cafa18e phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:69528a5d-1f81-45af-aba6-ebafb351b6af phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:890e0656-dcb2-47ea-a989-5ffa359c74dc phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b89d3d46-4e28-4900-93fb-26067487218b phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1fcce41c-9375-4eea-b239-b232ff907e3c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:936e71db-b149-43b4-991e-95a31a99a75b phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1531104d-1c6b-4fb4-ba73-add9ed0c3d61 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b3721f1f-89ea-4927-a092-fb6471f8b6d8 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1ba96fc6-9591-41eb-86c1-9bb1b57ad299 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0a621b5b-f181-4def-af3d-210bd3ab6a45 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c4109fa0-6bc1-49dc-b827-4e56341d628c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ef62dfdf-5566-47c2-a8ae-cd48b2abb77c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:914c72da-aed1-4f10-8b27-5e0d84490c9c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ad609edc-8d11-4a0a-b3ab-0197cd82cdfc phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1ab014e7-987a-4b41-a29c-aba28b301231 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:cd401ff4-b01d-4144-9e38-6cca9d6fa89f phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:65cc7804-937a-4aa0-be1c-291823147d67 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2573cb7c-32f6-4092-9e94-3d7066123279 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f2fa3de0-7fa1-4ac6-bacd-b424f325563c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5c4e3131-05c6-48fb-95ef-586cd3cba599 phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:d697b6c9-74dd-4ffc-a353-3a6893e56e4c phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:90a89a77-5b67-4c25-99ed-0dfb7388a90c phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:4f655475-1e0e-40aa-9ff8-77aa4833d3d9 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:c25a5621-7e40-43da-986d-87d41f54bb4f phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:6be56e80-83c0-4614-9597-060ad2a5aadd phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:e572a4cb-dc3d-4cbd-8927-759643fc8875 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:b5f3b68b-6faa-4dfa-86f4-4bdf20289a55 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:630c52eb-425a-431a-b203-45e75a14e7b7 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:e71df473-fb08-4a73-8346-9bf2509d9b68 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:8c0a7aba-f824-4abd-8ffb-8ae5791d9cb8 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:a6b3c94f-2412-4016-8968-ede3882b6d15 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:9d04e5bc-2829-46c6-a338-e089e3672af4 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:e1f50ad2-5faf-4285-862e-6f1220390b08 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:55729cfe-8f61-4bb7-bca0-987a81507bec phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:c2d57706-c82a-4263-b41b-dcdfc818d4ab phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:37cb3b75-dd72-4936-88dd-10b5b2ca8616 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:8f6816fa-057e-4ca4-a5c2-d29c81bffd37 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:c53c3338-2780-4e6a-b74b-b77228178ed9 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:de0b70d6-af9a-40c4-9a46-ef80a794d613 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:e3791195-c499-4a29-a532-f0e1bb80e320 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:0d585623-9691-4e21-b2a5-63b6e9a5226f phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:ca63daea-6dd0-43c1-a451-8193bbf70035 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:9ab56756-1c79-4796-9538-15e05e747c95 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:f6175dea-09a6-4015-8761-439db1629d2d phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:810afb60-3fd7-4c1c-9fbf-e6057420f472 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:bb0d4815-3367-4c7b-a296-aba0b85d83f1 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32359026 uuid:b8c617a3-a06b-452f-bd8e-977bb6c3ee88 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32359026 uuid:26fc2d09-338b-45bb-988d-41b39ca5dc77 phenopacket.store:POGZ.PMID_32359026_patient biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32359026 uuid:0251ef26-288f-4a31-8c4a-d1a50848f5eb phenopacket.store:POGZ.PMID_32359026_patient biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32359026 uuid:61182f67-4f8f-44a3-8d2c-69647b7f1255 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:4656e68a-ea0d-4c1b-9943-6d3d8c3a14c4 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:69080ae7-9558-4453-8806-47216ae16cdc phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:071c36b8-f68f-4e60-a6ff-0eea15b7c3ef phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:682e2056-40e1-46ea-a707-4f877f2d925e phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:ba83e956-9199-4120-a3f0-8196f623ef36 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:61b38f0c-54bc-4181-848c-945128407071 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:a57b7767-2c7e-497d-99ac-49fadcabc388 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:2334408f-bedb-4f45-b9f1-e7a3833b0dc5 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:90c5ea5a-fa20-46ad-b3ba-7d79b64ed4f3 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:0b504bcc-6b48-4b0c-a1af-3b6ff6a56e3b phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:19c49664-9fd8-4e9f-9ebb-b54f6482356d phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:0fdbda34-8200-498e-a121-6319fe9edade phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:23b128a5-4636-4be9-891d-ea2f5d1ba891 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:0923e583-d9f9-4201-8c91-69aac100f950 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:e8c2df38-b18b-4860-bb22-6355b3b3451e phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:7fc662a9-427a-4c5e-9e8e-b5faa797fb10 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:dc87c09c-bc5f-4031-b7d0-c5c88bd171d9 phenopacket.store:POGZ.PMID_33377604_case biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33377604 uuid:c0073d41-80d4-4aa7-a9cb-86df149f560c phenopacket.store:POGZ.PMID_33377604_case biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33377604 uuid:41af5b05-571c-41aa-baa1-24f86a04ac71 phenopacket.store:POGZ.PMID_33377604_case biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33377604 uuid:5711bcb4-082b-4c1a-8344-df78f100a369 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:cf03ff8d-8b29-405d-a5ee-636a83dddc3c phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:2e06a866-670d-4608-b2ec-a73e5d30253d phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:782f652b-4b8c-42be-9a1b-ac49c2db3d88 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:2545d54c-7374-4ef9-8bf2-3c782dbcf751 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:733dac9d-249c-427c-adbe-57d8485f3608 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:b5a90469-a5a3-41ea-8470-ce70633d15ce phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:b9bb2370-74e1-40b0-ab70-227baf7d59c2 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:6abe1e77-0023-4d83-8448-788bca1a9fdf phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:6420209c-aa66-4998-8509-c588c6046bcc phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:ae3a105f-0748-4bfc-ab02-d7ac8eb3470c phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c11f9e95-e449-4264-b0c8-601c3e7f44de phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c0f5e35d-3bf6-46b0-a3eb-dd3c6c509a42 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:80026099-1d00-412a-9e11-5e72754cd4d4 phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:7a8da87c-5d5f-4110-b433-97d97887274a phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:59b14f23-6d59-40b5-beaa-c3d40b116eaa phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:42790b1f-c94b-4937-a21f-5f9809bf9b65 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e856ea34-b578-4992-93c0-ede69f527dab phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:12ad0d02-ac70-42fb-8427-70137d18d199 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a2f94238-aab6-4f19-97c5-a1d60a41af03 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:898ef6c5-f990-457f-a144-dacedaa675cb phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:38a23b47-4efb-4ddc-8951-ca386d64cc47 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:db941e18-391d-44a4-869c-d9481a920455 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:07f8338a-e00c-482e-92bb-b09b6ddfd1b5 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e5994d24-a50b-422d-aa8f-d714107d5371 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:340710c1-20a9-486b-8fd0-701346643c53 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:864ed9b0-a5c9-46e7-9b43-f776572c1f61 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:53beefaa-ab53-4f72-b8b2-cf8485ac8f89 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d0e591b6-d76c-422d-b6b3-d1c0f53c9c55 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2f98e278-94f8-452a-8cde-b0d984201416 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a6679a60-bad9-4b93-afa2-9139ad0e92ba phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0136d026-fb14-41a8-a834-781c65b542dc phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:436bbb4a-8a32-4038-9a66-17f245a89450 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6876465f-f01b-4957-922f-6a77ca90e7c8 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c7b8bda1-a7d2-496b-bdc1-b800dfcc67b2 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2c0ddc05-51fb-45e0-8093-4514dfb6e917 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:15d839dc-828e-4acb-b98c-0212059aab7a phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7ba1337b-790c-48ec-903f-47c77cfa9594 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:88bd0d0a-9d66-4652-9e87-0ef860b250ef phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:14c48e27-6aad-4bd0-a9e5-9fd3b29ea725 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9f3a4745-a4c1-4c69-bffe-206ecd9b896d phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:da5a68b7-4327-47de-b4d8-664fa19cb56b phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:88eb42c3-f6c0-4201-a42b-ef56d2ad641a phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0d2f88d9-8148-4ff5-8633-c7da433bacef phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:43055a8a-6a83-43c8-85b8-679de2ca9ad0 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c83d8c42-2910-4b59-8aa5-b00b8c49618e phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:54f0e689-5abe-4812-ba0d-ba9f47573c64 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fc46ddb8-8bab-45c7-b738-11fe828fed2b phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b1ed64c5-4bdc-4ca0-9633-89ceefcfd257 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d6c614fc-9e1d-4f78-9cdc-a65a6612576f phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6847c218-ea2d-4182-ab76-c283e66ba25f phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c9043ed1-5b1a-4684-b2d1-bedad1224517 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:15dab605-1d5f-4940-99a7-b8fadc391a9c phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b5bcbbc6-e077-4dee-bd45-44bc7b95c933 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5f27b09e-5f34-473e-8596-cae3c4c78eed phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e336aa51-11d0-4466-9efc-63400b314c0d phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9f7762f6-67ce-4299-85b7-03a40f466e85 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:30edce2d-c302-4247-849d-c11253b34bf8 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:75b748fe-14f6-40ad-818c-58863c765401 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5402b579-6fc5-4b52-87a0-0728cd83aa1b phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:37f51b15-5030-430a-b163-5d4cdf9255a0 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:741e3fcc-30b8-4533-8345-e37f89156bad phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:424836ba-bd0d-4206-a9fb-d3b6db9e7e3c phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:451ce73c-375d-4562-8fcb-d3427ba14496 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8301f99c-ea9f-48cc-bb17-c1c5d548e7b8 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:af813190-29c7-4b29-b139-2475928cf0c9 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3bfabd1a-6248-4a84-be2c-93b9c6bfa5c8 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7ebc860a-8cea-4c8d-bdde-2ee5334e46b4 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b8d1dc77-7ffb-46bd-890b-5fbaf3fa0023 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ab5ad3ce-4f59-4c76-be0e-84bf4b6102cc phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bb109c55-a75a-47a4-993f-efda2bc6fff7 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7f470d49-3650-4317-80a7-58251b85a566 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fb80f157-af35-42ec-8032-c8c9f05dbc37 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:da153fff-b15e-4649-8559-9a6102fbd5a1 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a4109a10-6044-43af-8ef5-26394e2cc8de phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7b1d896e-bce4-427b-956c-63f2960ca425 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e75421fb-d98e-477c-9241-7ff8d02477f2 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bab3208c-b2a1-447f-8330-648777b86e8e phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:86051ddb-6c17-4280-ae81-348de1736297 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:cbdd3411-1272-44fb-963c-ca53510f6b93 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7bddbe99-7582-45b1-9904-721332c574f3 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:80d8e5d4-76f1-4b64-b90b-66fe778483b0 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a7701f7b-45ae-4f1d-a234-d92845767249 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:05c84935-7dd7-4ed7-ae15-cf46711bcdb8 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1f7f9f3a-f656-4758-b7ca-8f18800170b6 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5e9d9115-5a77-4ad4-9f16-4e5394a347f0 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6a47e596-d853-41aa-b270-550725339d3d phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4bd03d7c-8ed2-451f-9c55-2a2fd4ac2cc3 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5f7faa11-7fae-45bc-aaf4-0f5d221e89c8 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:89aadae9-148e-4d2a-9aa5-3a14cd63d871 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5e843086-58cd-4dfd-94f1-66103180a994 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ba1a3091-dba0-4133-b877-218a8bd8ec41 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fb595e19-8e94-402c-927d-01dc174219b6 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9dd64d61-2d59-43b4-a3b4-962ac871bc32 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d8d34f0f-9161-44a8-9065-127b79fc6e33 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b5850dbc-6a1d-4ef8-a0b5-1719355cdeb7 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:06f3c044-d5b4-433b-9ecc-bcf0baab4747 phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:1a266894-3b44-4a74-b6b0-e7f61c66868e phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:faa9c953-fae8-4c5c-a703-b85cffc5190f phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:f56ec210-8673-4076-8cc3-7e68b9292324 phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4e1be444-3b74-462c-800f-2a208d9e005b phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c273c08c-e303-40ad-91c6-413e648a6772 phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:1df1cae8-d2fa-4172-8663-f4c0ee31cd39 phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:8a6ec470-4fda-4b95-932d-ba2bd49fd564 phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:666655ff-2946-4390-93b5-62afa8b04d7b phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:abdd9eda-7044-4612-bea2-9af4bba063c9 phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:e60dc5d0-5d3e-417e-b102-ec00612a67bb phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:f760e82a-41a3-4bf7-a4d3-baa9c9eed53a phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:5370e99a-2c1d-4644-bee5-9636c764a829 phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:b41f6cd8-43e6-4808-8662-ad1940c27ad3 phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:3e0cedfe-5589-40ee-a233-95c666922901 phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:783ffd6d-75dc-4a91-8ee2-4b12a8fc2147 phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:a430803b-61fa-47c0-a1dc-13fc16028d0a phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:8fe93166-99e5-438b-b0dd-044aae5c9046 phenopacket.store:POGZ.PMID_33909211_case biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33909211 uuid:15350a91-0493-4e67-aff9-251c358b7cfa phenopacket.store:POGZ.PMID_33909211_case biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33909211 uuid:fd084d96-37bb-4bde-a266-1e88d095007a phenopacket.store:POGZ.PMID_33909211_case biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33909211 uuid:deddebfc-47e1-4626-aa27-7f8697d3eb6e phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:053250bd-d5ee-4592-b430-f263c6325d80 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:8eb5a067-282a-4dc6-82e6-5fe1eb598de7 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:cdea6d38-471a-408c-a1c5-fbc2437c805c phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:37213b6f-f7c9-4914-9bc1-84d758c1d30a phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:49257594-4632-4483-bbde-3c09c727faa3 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:8927c270-90b4-4c39-8c68-7b85b969a152 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:de045512-a642-4ffa-9ae4-f118440da117 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:31777552-f108-48aa-a809-b18f1d9a75af phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5f7d77f4-1521-4ae5-8b46-00f68284b590 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9e8e6aa8-7111-400f-96bf-73e48c9b2ba8 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:d2b3ec70-5a78-466f-9197-7eb5d729ef6d phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:85ac106e-1166-47d4-9ec1-105b203cc239 phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:5d8682a6-9e63-446d-8dad-b8e0da4bf8cd phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:544aaf2a-de08-4697-9d34-fd51519cb41c phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:b4f88c99-53e6-44ab-bf92-705b1b83cc34 phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:43205536-23bf-4d3f-a5c3-f3c877f60f4d phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:a5eeade9-2867-4414-892b-f6ad338f5090 phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:e0c4a198-da6f-4fc4-a09d-6cb25a3f5c28 phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:1f9855fb-8612-4d65-a7b7-61d02a22019e phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:b5291648-a51b-4783-b450-c5b6d983507c phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:d016a2ce-ef3b-4209-a9a8-36e29132b9fa phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:70beda42-f54e-4caa-bdb7-3f65a06f22bd phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:2ae93905-80ee-41cb-bbc6-5c2d847f3146 phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:1fd873be-3ef4-4fd5-8c12-21f04f2ac11d phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:c1a70617-5c93-43c9-a256-2ca6651fffc8 phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:17d3d554-4ec8-43e6-ab4e-696d84b2e12a phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:85438f42-fda1-42c6-bf61-5f9923cb0c4e phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:7f3f0303-fe25-4ad5-b733-442b3d06396e phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34133408 uuid:29de7d2f-5a05-4af6-92a8-5e74f8f9db95 phenopacket.store:POGZ.PMID_34133408_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34133408 uuid:a0d4b7f0-7344-4a66-980b-6c2edd862d7b phenopacket.store:POGZ.PMID_34133408_case biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34133408 uuid:d723e306-7fdf-4e31-9720-b8ccd18c24da phenopacket.store:POGZ.PMID_34133408_case biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34133408 uuid:f28a97ed-0cab-4d12-9467-574d8ef2695a phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:d8db79c6-2bb3-4433-8766-95b59b123468 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:758d9c8e-e3ec-4c75-9d41-deec8870ef95 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:2b23a565-f932-4033-a442-834092b47baf phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:fe835e91-16a8-4e49-bd61-d63389c73b41 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:72eb0105-b531-40d7-864b-70f491ec6029 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:cf71dc68-c6fb-4a2d-ab3e-27359b41381a phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:6830eff2-7b75-479d-bbd2-1a9c6282d0b6 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:21847249-f335-479c-8279-01dd18054c0e phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:0192ef73-f7a4-4739-9fcb-2f5b74d7c81f phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:230870c3-7e30-407c-84fa-dd02515cfc41 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:96f9f3c5-822a-487c-ace5-ee3f19147b3b phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:bcf1b867-420e-474b-be0e-2f6c00855d70 phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:83b36a8d-271a-4470-b2d3-8faa8aa80395 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:33b1fb14-94f9-4295-94c1-ce7ed5ed33c2 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:dbba1c12-fb61-4d8f-8d7d-b00cf3625015 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:39097466-b8b7-4334-8c82-8c379b2d712a phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b44d42f7-f233-4b53-8abb-658340369c2b phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c1a6e547-e858-4d65-a97c-59a1e95744ef phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:89142fbd-e0a3-4368-aaa5-0d226ecaecd0 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:069769bc-30d6-4c06-926a-112270e5571e phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e1582995-1b36-4839-88b6-6a8d15fc2401 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0836c71c-ddee-42d6-bd7c-840b49c769ad phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0996ce55-7625-4a39-b198-395ffb1ca209 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7b73fffb-5790-4aef-bd06-a34652bddba0 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a5fc641a-ac88-425a-99e6-abf377473c75 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e2cf786f-d503-4f94-9df2-27b55c61be23 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e74aeb1e-ae92-446a-95a8-ed4f01953f8f phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:54a19bf3-f66c-4e9d-81bf-4c3d140fe212 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:39a0a8de-6a8b-46bb-9773-c7029d33f9a2 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5f593512-aa75-4007-a636-4417f9848414 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:584bbc7f-fc41-43d2-b591-249c0f91a3a0 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:337397e2-1537-4483-802c-7305ce63f9a8 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:db106f1e-d2df-4a83-a17c-ad572c190bd7 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:81904cad-bbc7-49f6-86c4-2221f0bc9ce0 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a48c9b15-b62c-4950-9679-1c6425f4b771 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0dea22e7-2989-4be8-aa6c-c653e1e84602 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a385729a-b906-4fb3-9394-73d540692057 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ceb32acd-6189-4300-ad52-2f4d77c3de00 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c3a644ec-b225-4e66-ba01-0d08b484f663 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c949d2d9-07e3-4cc2-8820-3ab1e9db1beb phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3774db31-dc6d-4639-847d-3fa1519fd7d8 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a3edb521-5a2d-483b-b1ce-d474db9b2452 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:375b36b0-a421-4f40-88a3-b9fb6503e595 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5b412881-59f7-40b4-a9d8-f7481afe1191 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0418b599-fef6-4348-965d-50c5d6583d41 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4ffa2ba2-5c64-40b8-be2c-4ecc54bd88da phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b0246f8c-2bbd-4444-9ffa-ed4b99c2035e phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:628e41ff-94ea-48ae-9df4-e18a9b5ac91d phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c98d9748-364d-46bc-a6ed-d93bc1161e1a phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6f3bf6cd-03ee-4b9f-a42c-1aee2ad2dae4 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7e0d5f87-759f-4141-a5f4-1118f2ce8cae phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3c74dd83-d88b-4554-8a84-df4e090cccee phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:83126803-f8d1-437f-aefa-7dd7cdec0d1d phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:058c306b-6d36-40bf-b197-685a1c01e9df phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9f01e570-8c84-4ac9-a69f-635d87f5216c phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c4c8e263-cd5a-4bfb-a977-ac19ad50716f phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c70db8c1-06b1-4789-8495-22e15547c941 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d2b7cbd3-6318-4f37-b4d8-deec390d4be9 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9809ba82-d46d-4c2c-8ebc-7e8a9769f441 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f7aa7e4c-deaf-4fa7-bcdf-1d3c99b58af0 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:310b468c-d772-44ce-8425-54ad9baeefa7 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:39f72af8-2445-47b4-ba64-68c342faa2f2 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fb2b31f9-d823-4199-93b9-938a198e13a7 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f5e7fec7-941e-47ee-809a-aed710c92702 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9c4c1f5d-7b3d-489d-96d9-3d083ad43ed7 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:21facc78-127c-44f4-b09d-dc78ad05d9bf phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:492c57a3-ab6c-41fb-8089-ccc6f8fd6f8b phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:663f8806-e8d3-48aa-95d2-06c28c8115ac phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:50399103-c90f-4228-bcf0-8127440e63d5 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:edafa0a6-a7c7-4def-8df6-4ee4531eac10 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b39b57c5-c08a-4cb5-8515-bd4a72666034 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c534166e-a8fe-4409-8c71-8c2475bb1d7b phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4aa3f712-467b-4249-afe3-254008a4fcb3 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d7b1ffba-0f7a-45ea-b6d8-3e4e4dd0437b phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4ffba573-bdfb-4a77-9416-da55b81ff6be phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f461d92a-956a-41ed-9aec-b6c18409da40 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c65ce4f3-e070-4885-b7b3-270d5bc2cf72 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f254ea69-e558-48c7-9d2c-d89221003f79 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dbdf3ab9-30f1-4996-99ee-cdde700f8a2c phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e030cb91-feb9-497c-81a5-5fbcfe289965 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5b5b4022-4f7a-4419-872b-0a201e36265a phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c3dc3488-922b-4390-b8a5-75aa1f7ed230 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8b5867bf-2641-4e57-93be-f059dfe37283 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3c8b7be1-3aa5-4f45-b9b8-38183a4c9bbf phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:829f78c4-75e1-4a7b-97bd-cd14e5e20484 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:599eeb8f-1407-4903-814f-f6aa7d13445e phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8501865d-df92-4d59-a87c-b716e96291cd phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ae67c4f8-10b4-4cd8-a6bf-6f557eaf5780 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c07012af-70fb-4fac-8c43-f37acfc90e4e phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5b904220-34ca-49f7-a34e-d57204e05794 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:e0990add-5de8-4edd-bfa6-da8221392dd3 phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:033ac5d7-cd45-48c4-81f4-eb4745b2b13d phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:07e0687f-1093-49fd-9e4a-bc90daa76b26 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:75a4b05f-c303-481f-b3d2-7258117d66f0 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:97566ea5-0e2a-4366-9d10-2e384f985365 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:1dd28749-e599-4234-bed2-a6ed1462a152 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:3159743e-1f91-49b8-96a5-a03808b4cab2 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:148f6a3f-91d4-4aa8-afa1-1da7745aa406 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:c147b68a-81e5-4382-8b01-b3c8e2f52924 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:f1efbc62-6eab-4172-ae36-304ac9e94aa8 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:6bd4055c-c6c7-4f9b-8034-317ae9a53226 phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:7774ff13-dd2e-4c00-b5f3-4039b1c2a32b phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:dbaa4037-c635-4888-879f-f2c9a914687d phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:2633de82-29fa-42ca-bdd9-36276cfd3671 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:24fc2849-70e7-4453-b025-0b41337b25cd phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:873520d3-39e7-4533-94ee-6ad865651286 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:28e69742-ebf9-4cdc-9b10-9a4aafbec311 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:b44873b2-fefa-4918-ab53-680fcf728222 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:8f11fa56-49a6-4373-b434-c06c6ed78ce9 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:3b3bde57-c725-493e-84eb-8fab09603ffc phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:57d49a49-f993-47af-ba30-3b0471521943 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:460c7c54-c5dc-4737-8ca8-bff1de27f223 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f7de14f3-a642-4a7e-964a-a5fbddd74d8f phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f04e65ed-4d5a-4d60-9bba-20257871f717 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f95f03d2-957a-4260-9b54-e6851541670e phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7b77fc62-81d6-43fb-9ac4-8ce58ca01ae4 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:8c02e362-35d5-4d82-8ae3-9623f36bca5c phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:a11e41b8-2653-4946-9921-d45e26de9dcf phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:cbae277a-bfe8-41ba-b48d-99f1028b3b17 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:c4db6708-c390-4317-8999-609e375e60b1 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:e8f28b40-f37b-43ba-b050-305accebb3b7 phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:5f4e3bc9-b387-4fbb-b820-8911f33e7667 phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:424558b2-3cf4-4ae3-a236-36309f0d13f9 phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a49fddd8-c411-4968-bb0d-93fc76b3c8ac phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a067dbb9-ee85-40b5-ad68-fe0632fbb4aa phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:0254b6a7-0acd-4936-a7c0-7a0d23b477aa phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:0969a0d5-27b2-464c-9780-bc010d036a4b phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:ef168a41-dbc1-42cb-92ea-161ef0f25abf phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:b62790d9-a47d-4123-93ff-24458ea2eddd phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:45c5b3b1-6664-433a-8460-c6bd77328337 phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:0c2a7084-9446-449b-b4f0-a349b56b0b41 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:99a95b43-a8e0-4897-ad01-26f1a6e54a04 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:dd1ea3cc-bfdb-4d0f-bda2-781645f6c52a phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:378f0236-43a6-4537-874c-ef63a42e2f04 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d44dd6fa-3a30-400a-bad6-d3d29164a6a9 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2a90cd4b-db78-4760-83bc-9f601649b023 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:4a6d37c1-e05b-4f70-a7b6-52fcb31689d0 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:6f42dce3-df90-4681-b042-bbeb5d992d56 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d49b6da2-58d0-450f-b0ca-5c642bf8c32a phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:4bdbb600-8654-4df7-8388-883f9559fa00 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:dd89d881-a6d7-4b00-a876-cf62cd42b789 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:190d7b39-e659-4443-9286-4b3a277b6046 phenopacket.store:POGZ.PMID_31782611_PT15 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:2bf17a17-5e64-404d-8d37-2fc8f4f6893f phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:bacbc45d-cde9-4267-856f-fe7cbc51257b phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:feb67d83-ba7a-4f5f-91d3-44996d25c217 phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:6ab1fff4-dc95-4789-aaf2-2f7fbf9d3ae4 phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:eebd4bd2-5cb6-402f-ae10-139f119faf17 phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:45c4d401-911a-4ee1-874e-a1b444922139 phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d6507e83-a18b-4933-bd38-3f47c8c7e011 phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:0cd93aea-c1ab-403d-a756-2a45c28f5fee phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:5ae61707-09ac-4021-8ab8-45844318da0d phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:a06470ae-e168-48de-b612-cecf7550f162 phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:a307a254-6dca-4826-af6c-ae168e8fb4ab phenopacket.store:POGZ.PMID_31782611_PT8 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:d84d0024-5e7a-4453-82a9-0faea7afae75 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:67e3fe21-1be1-46bb-97ef-63caa83f4748 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:247f8566-d99a-4bee-bcf1-12dfa5d8deff phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e948f218-1e34-4fa8-bdf8-95245e1a36e9 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:801cc331-61c3-41d2-aa5e-e55e52e0133c phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:88bf94e1-b344-410c-865e-eefc366a78d1 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4625d681-0247-4128-869f-30cf44469274 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:768d5888-7c2c-4e09-906f-ba57cbde5a41 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:1ebf81de-bd15-4d99-84bb-70973416b9dd phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:c0a784be-f45c-46da-8a0f-2c73150fea4e phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:6fe2115b-6ee6-4320-9399-a27998461651 phenopacket.store:POGZ.PMID_26942287_EE2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:fcd40dd9-97c9-48f0-b27c-095d4f46268b phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:a4fc75f0-b36d-47d7-a7bc-abab1b7b2016 phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:4c0f6fc0-84b5-4bbc-af3e-32962e693bab phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:978215f6-a6bb-4203-9bf2-7e1fad3a9474 phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:f4e1f619-2e17-4ae2-b4bc-b0892c436c7f phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:201a2052-56ca-4b52-9fff-b58f9e6b9d38 phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:91f9d22a-2838-452e-acab-9578a24c2aac phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148570 uuid:66fe18be-4215-40df-95cb-35323a4e6222 phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:2c5c460e-4dc0-40eb-8dad-2ba3c490ec1e phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:be452e42-0ec0-417f-bf7c-485c8e3a6cac phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:c07e3d0c-4626-4f3b-b8a1-523fc424e97c phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:112fb6fa-184e-4a6e-afa8-c9f85d537cca phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:096e68c1-c4e4-49ef-a360-35d788af08df phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:24a70506-e502-4c8e-9e5b-aa6ab9477bcd phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:4060aa07-e1af-46ed-83f8-82473bda7778 phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:7e1f4cd8-11a8-4f16-a1d6-4fcedcfb2bad phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:702bee9f-516c-49b8-990f-e4c284afd9e6 phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:8d0f0ca8-4f36-46c3-aea8-4b098ef36a53 phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:a25232d5-cdbf-4847-bd1f-ae5c13f17757 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:fe194b60-aec7-42c6-9947-91c63ada514c phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:d44f2bca-e267-444d-a7d9-2b6f2b9ccbc0 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:bc49b2ab-0409-4451-b0f8-4cf28bb3694a phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:64430d31-72fc-44df-9d19-432fa9100551 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:307523f4-eb9a-4131-a689-8cc779ef4013 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:e42595d2-fd75-42b2-a687-53aacdcbd72c phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:1591e93b-2505-4754-846e-c27b26ba299c phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:442617c3-568f-46ee-b718-c797a95a7333 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:2a913588-adbf-4376-83dc-ae46fbee4a85 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:b30041b0-5cb7-4880-8fb8-a24f3b16ad15 phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:d8137f9a-19bb-44a4-b030-5a0088af3794 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:4b1fd7cb-711b-4298-ac10-70126df58e3e phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:65e1cf7b-5389-483f-8cb9-ce7f1f0cd3cd phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:a675b92a-9abc-4614-8f31-a8980c04c2ef phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:977be726-8f77-457a-ae1f-6f2b44cbc046 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:0774f025-d28c-4cd9-b45a-0e9cf631f35b phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:68b300f5-4d61-4a61-80d9-629ede983ba7 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:67865fb5-6fe7-4cfe-b39d-3af769a23b85 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:32a6558f-e30d-404c-b348-84bc22c423da phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:fcecb97d-1aab-4226-b5b3-f33142759722 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31347273 uuid:f23150f7-2212-4770-801f-4d06b4f8a591 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31347273 uuid:c435bd21-8252-4193-9491-c2acca968121 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31347273 uuid:5b398322-9cff-4b35-93e0-c84ab05a2b49 phenopacket.store:POGZ.PMID_31347273_individual biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31347273 uuid:55b702b1-5ec4-43dd-8510-3dd7062ab4b1 phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:eb8b8ede-eddd-4604-a485-65f385c58a2f phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:27ac35cd-c595-43e2-a390-1e9f47735c44 phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:c4929bcf-0c4f-4179-adf7-6130ebda6ffb phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:8f29f55d-0699-475d-8448-5ea1fa3c2166 phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:803fcad2-f074-44fa-bd58-a0bca7d92a6e phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:b58c46d8-574a-4582-be19-06d62ef7e78a phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:7f176b40-1925-4e20-a8b3-94e987846c58 phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:a56573b0-5b91-4a89-b2b7-df9ce173a652 phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:8705b9bb-4247-4ca6-9884-779bddcaf615 phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:d1eb9160-11bc-4d5b-9780-fbfd2feff00a phenopacket.store:POGZ.PMID_31782611_PT11 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:3f4615c3-54d5-43f1-a5a8-d5ddcf0b00a1 phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:3a16b6bc-88d9-4c8c-90aa-e66851cd7fab phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:b6d03721-887e-467f-854e-d94b1c9825ff phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:0b00cf06-8167-4c98-9fc0-7c4e6e39799a phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:6dc9af5a-6a45-445f-8474-1b6bb954923a phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:5a4126ba-d6a9-420e-a5c2-3ec973f2bd74 phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:0f1db756-834b-4453-8cbf-d26b4b607e87 phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:04c6d621-3a11-49b3-90bb-bc54cccafdc4 phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:ba3f31a6-d102-41c7-8d0e-913a9e3b128a phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:57ca74f8-db47-4dbc-b10e-49c520455ff5 phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:e93058dd-0754-4ada-9f69-f77fa52bd856 phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7ba07d36-95f5-4cf7-aa14-3d780b55fb47 phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7a7f2968-4953-4db3-bde7-f4325cc98ac4 phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:49903311-ee6c-4ccf-8160-1568d405c94f phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7fa9875f-f7ed-48b7-ae33-17cc22fc6e8a phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e6fc0322-aa76-4a62-a463-f542de976936 phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4ec4f0a0-e86f-4123-974e-750a0e787623 phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:36320651-3387-4f2d-85f1-1786e3dedaad phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:734838b4-a4b4-49f4-8155-021dcc377f4c phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:86e1e168-439e-42e2-909f-6a78b9e9425c phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:1dacf9e1-0c38-442f-8c29-e39a312d7394 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:75a13860-6bf8-4af8-9f06-bd18755f7ced phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:300fe283-efd7-4ef1-b4bd-28485fb4382a phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a4848c27-fda0-463c-8af6-2f9d4bbe44c2 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:1d1009bf-36b5-4344-b388-9d1c3bae7e2c phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a8196f00-8b48-49b6-9ad8-b62b5988a261 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b2d0d985-1db5-4f60-b3dd-b1c27a166fd7 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a07098ef-74dd-49d8-945d-cc7b1f172025 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:6366ed05-0301-4fef-bd46-f4929208bd5a phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:0f6d4625-37e2-499d-bbca-bd918109838b phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:f671d757-a64d-4189-9f12-a17bea8d106a phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:1a08ea50-0e6f-4da5-8f55-f27318736772 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:5b7d9208-b2f7-453e-a3e7-dcb81419ec24 phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:18e6c0ca-5472-484d-b229-505a4004c451 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:82e5ac99-cf2f-4c50-91c7-1108135b5f44 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:5faba139-7f4b-4786-b264-df4bd725fc45 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:668352cd-4c0e-42ad-a442-b8407ef72847 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:050be30d-f88a-4055-8a2f-71f91facc4db phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:aa95ec4b-11d0-481a-9350-70773c461b70 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:e0b8b848-8cc5-4c82-802a-91700e6f4181 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:45624e25-e057-4da2-89de-da98b82345c6 phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:0223fcb0-9816-40d4-bc0c-a30f9f57d6df phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:d8c7f39c-e3c7-4f90-b63b-dd8e8b5cfd3d phenopacket.store:POGZ.PMID_31782611_PT7 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:31280a60-24d0-4a04-9985-aa3b7676f7f5 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2bc4c834-602f-4ff3-87f0-072dcd4377b5 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:86eb05b0-1e59-4731-98f4-705ce03d0950 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:33424899-f921-460b-a6d5-f765be753668 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:44380d87-98d1-4031-a92b-7a4a4bbe2d21 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:1e3cc0ca-ac53-4013-a9dc-63cf9cfe3e61 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:46b63637-6287-4ae5-a51a-c64a4cb7c0a1 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:f047dfbc-2462-4439-9ab5-54532f9d7722 phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:99c8f823-e219-4ad5-9ec6-3c9506d022fb phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:42f9dae7-ae50-4452-87ab-d4e112a8ccbf phenopacket.store:POGZ.PMID_31782611_PT14 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:0e6bb63d-ed5b-43ac-bc05-9d5c2c279d18 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:0bc9dc41-0975-4ff1-ba30-a33b68094259 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:ffea7a84-57e3-4431-9dc4-eb7415207ac7 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d5c5e8df-f54a-4229-a1fa-a23ac4f6d72d phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:e77374f1-961f-4779-8e61-f73079d20ed0 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:9c81f37e-5c32-4a73-a201-7d7c2b54b1a5 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:0431f256-42e5-4712-a377-d5c40d0623b2 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:b5175072-654e-49cf-9138-cf72d2522461 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:51ce09fa-c4f2-4708-a877-d4320813c94a phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:b09ba590-0f9a-4f2d-8b68-a1c71e428ea7 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:c61879d2-2fef-473f-ae2e-8f3ba5c85fa5 phenopacket.store:POGZ.PMID_31782611_PT4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:d3846690-fef3-4077-beb6-ed61abb85434 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:3084fd7b-f9e6-4562-860b-4bda1f89c047 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:743ea39b-d790-4fdb-96aa-553beee68968 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:3d061515-c673-4dd6-8ce5-da37f4967623 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:ce821e8d-efa1-4a32-831c-a4e8e85fa721 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:19b99067-3a27-4fcf-be48-db2d1af1788e phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:25f4cb05-ce8d-4178-a799-1e3b50aa9d32 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:24748ce8-3e7f-45b3-b963-4a16b90b90b7 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c2e4978f-1cfe-49bd-9933-b357b1b587e8 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:96d2abab-3f35-429c-b10b-5b726c0c0c53 phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:06eda82e-eb1a-49dc-ad79-5b761092baec phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:bdfe5788-6c70-4706-8461-fe3dad2fb89f phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7302ccd6-b03f-4f20-9826-3af1f23859af phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:2b0dc283-2fc9-4184-a526-79870f00a345 phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:5f48c9b4-e81a-4d09-b461-cee59d569dce phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:b925df91-9e86-4171-be49-bbe467e96ef9 phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f458f50d-fa09-4126-8113-dd5476d51dec phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:48733e00-85f6-4961-9991-c9e87b11a994 phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7f0f4ce8-dfee-4800-a6d7-34a5f27e0384 phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:47b2249f-c894-4c47-b4a2-74538a7dcbbd phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:3386bee8-6703-4a99-89f8-8bbd4c9b6a6c phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:da994435-7bae-4ca3-b807-fc1d207f805f phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:e4fdb355-9190-4dcb-a91e-cf6563380481 phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:aef4821c-fbcc-4545-9661-f6febc45fb76 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:6f8d2370-4b2b-49dc-a966-ea79a4e9185a phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:9052bde2-0813-4c21-a54d-c002d2837a4d phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:8e443588-32ca-4f9e-a1c0-79058a1a6962 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:afb38ed2-e99f-4eaa-9973-c48c8fdb7bef phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:e2ac8ef8-5f70-4823-a330-d85bf5c35f31 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:a39d2d41-09d3-4095-865d-aee0cd3265c5 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:c0954014-a204-4a55-994a-729fdeffb2d2 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:35298913-cb7c-47fc-91fe-a790c721b0de phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:1da60545-8687-48b6-a7cc-dd45c5e6cc17 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:72c642f5-8d8f-4f6d-9855-659a67483626 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:833e5c0f-3d87-4fc5-a2d1-d35067f87b35 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:627808d8-4051-4f8c-9634-a3a9a31d89b8 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:6682ba78-3e4f-430d-a1af-0ceb86d9fa52 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:68a3940a-6e30-4c8d-bd09-bd02ffa39776 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:82e97022-3073-442e-8558-08e82537aac8 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:603a5f77-30d2-4db1-b118-2f6ca9baf420 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:3526fdbc-dcc1-471e-8d89-65ed9e86a7a6 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:c75687b5-c7ec-46f2-bf04-426b0fc43913 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:e9298bdc-4c5d-435c-9c4f-5249e79315dd phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:b8c51f74-5502-4a17-9e93-6a87385531f6 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:c6f04bf1-ed7d-48e8-85ce-e9cca7eceac1 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:851c6697-4750-4207-b947-d2374ccb6031 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:f30b8f2c-d38f-49a4-8f0b-7aa1d7f982d6 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:28ecc956-7ea6-4049-8135-955314477e61 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:e97c913f-3d39-4a3c-9eee-b58c5a57b91f phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:63ca85d2-0979-4684-a86b-a9fcc6dffca5 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:3ed227c7-f7eb-4a89-aad5-f427d42c1c58 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:473b2041-3c58-4f91-8ce8-e6150ca87d3b phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:8a65fa5d-785a-4fcd-ab46-ac053f4c88ce phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:1bdb4d78-b9b0-4e84-8a13-14a8a81cad7a phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:d1e21aa1-714a-4137-87cc-4af75bce7c4c phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:2c419cb0-cee9-438a-bfbb-6a11b3d10b60 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:f0c3ca5b-fbcd-4ab4-9699-5b95b50038cf phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:056c8446-8275-4d23-beb9-1d6003b4e3fd phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:e3d89086-8d11-4dce-8d0b-0e8d0be158ca phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:5e279d01-5a68-48cb-9bcc-7667ee481f5c phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:35da2274-55dc-4791-bdf1-28e0f015d0fe phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:baebd71d-1f44-4048-8064-2c322d60bbc3 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:96e1cf8f-b051-4a41-b005-fcf372bf0233 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:cdcfc479-3d51-4558-b6b0-68a688299e4b phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:6879693b-af6b-40e2-94dd-d35ff2627b84 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:81ccc869-1c81-49e1-bd86-a8d77923bc1d phenopacket.store:POGZ.PMID_28480548_girl biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28480548 uuid:7e26e469-cacf-4eaa-bd35-e6218e5e61f4 phenopacket.store:POGZ.PMID_28480548_girl biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28480548 uuid:71100877-7bcb-4aab-8e76-7ced9d83683e phenopacket.store:POGZ.PMID_28480548_girl biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28480548 uuid:90452ddb-dc9d-42e6-bdf6-e1cae3e15290 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:375e00a0-847a-4edc-bbd4-35ad18c1dea8 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:16efe587-883e-4f4c-9f58-4db2925dc85d phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:82866203-7ff0-4b2b-a0fb-52ba6902484d phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:40adf35e-e810-42a4-8477-f32e8c678de9 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:5a19a4c4-4daf-4876-b0b7-f9e4d111d5c9 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:64ab7ed6-2d3a-47ad-b45a-95863242670f phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:679f7678-cb30-4740-bc0e-42b01f4aca2b phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:89586a3e-ccf1-4967-82b0-839f295a7d92 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:b1dcad7a-340b-4877-a2e5-8a24f9393bbc phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:c6c2c5cc-cf95-4770-8537-cd9fdcbda925 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:f467eeea-fab5-4509-ac75-f4b38f6a2c7c phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:4cdc21c7-9ef3-43e6-bd83-143ad63c131d phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:fe9eedd5-9e08-47c6-9811-1d9c0b05b4cd phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:e2eaecf4-ee05-4daf-847b-b67b665c953e phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:763709e2-15fb-4fb8-81f0-070d21b32a9b phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:e11bf9df-423f-4103-8d9b-34257584bda9 phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25694107 uuid:dd91035e-28f1-4bdd-978a-da326d95e98f phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25694107 uuid:dab27424-e5c2-4be2-9ce3-2fe4c8eb1eca phenopacket.store:POGZ.PMID_25694107_case_report biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25694107 uuid:84cc718d-4ed3-4f31-a117-2c3213e79ef2 phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:59c37eda-a644-4fe5-a08a-3432229fde35 phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9a6cf94b-328b-4920-92d6-e13ec318d1d5 phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:1017bc97-9991-4524-b149-27a0aa49234c phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:cf535536-a28d-4964-8897-4612e2fd1c0c phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9a02b20f-3994-4d4b-b9fb-0c5fa01821d8 phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:0718607b-4f79-4d7b-a3e6-432cc313d193 phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9a3a98f4-f851-4654-8b18-031e8e9ad95a phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:be65b5df-22db-443f-9edc-70794d77b1ae phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:19e36c24-159d-43e7-9021-6087c1a6be4e phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:d492b6d3-93c8-4035-a787-9f4b9c98e316 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:c28c443b-52bc-4709-8b2a-8b15ca53bd95 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:5d4773da-1ea6-48c8-a5ef-0fc072b672e4 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:566dd8d7-bdc5-4d20-9d51-79d8735160c3 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:29ea7ee3-c052-473a-bef6-7617c2ebbd65 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:b46a5eb2-cca2-4e9b-87ba-a6e1c9accd0b phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:639dbfdf-f92c-442d-b293-96e30c8dccb5 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:309af212-4998-47a5-bf01-532c8ae97555 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:ba1b638d-2326-43ce-9c45-70e0ccf2bde3 phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:a19096f4-1e95-47e8-9f6d-f9b86736beae phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:bb53b34d-a4c1-45ae-b13d-af75226171aa phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:cd145d4c-e645-425a-ad18-5ead968acf47 phenopacket.store:POGZ.PMID_31782611_PT22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:012e744d-9a78-4de2-b459-744db8b758d8 phenopacket.store:POGZ.PMID_31782611_PT22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:62183a7f-d541-47b7-afd6-d0dc190c4e8a phenopacket.store:POGZ.PMID_31782611_PT22 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:dbbc0608-531b-48d4-8171-e5ef0e27e144 phenopacket.store:POGZ.PMID_31782611_PT22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:cef31424-5dd3-42ac-9d0c-2141aaea36ca phenopacket.store:POGZ.PMID_31782611_PT22 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:bcc6a548-ff9a-45e4-91aa-ceda137ad1f6 phenopacket.store:POGZ.PMID_31782611_PT22 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:a5c261c7-d60f-43f2-bc84-6dddeff91fa4 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c088e9ea-db84-441f-9a75-a48c2af4abc5 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:4e94c77d-4c4a-48ee-98c7-0d76a3077c69 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:72883718-78d1-4083-b1dc-ac04acb069df phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:9ccbf1f2-1934-40a1-a40e-2000167d7d7f phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:a479c26f-8746-487f-b03e-ef5e0f4726c0 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:176a763f-ef97-4fc7-a27f-8a5f1e1fbbc5 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:c2ecb09a-8c59-4b39-a5ba-9e1053259cf6 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:1d9c06a9-e951-4fa8-ac02-8a4a36ff8dd5 phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:055db604-4a53-4cf1-9ab3-9b0eae02607a phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:40d793ca-bd3b-4b7c-a0ef-d4ad0101d29c phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f4b7022b-c455-4c43-8c65-41bf3e3b49c3 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f8975f51-138e-45cb-900a-bbcc5497701b phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:3d1fae30-a688-4150-a6e3-8033ae077e95 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:bd63b103-2b80-45b5-8207-abb813189562 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7b97145a-9bff-45a7-9af2-a0ee638c9206 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e7d4b095-4319-4bc6-a5d4-88f3361eab62 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e023ef07-b23d-4de4-be7d-a257e7b212c3 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:13d7b379-ac91-497e-ac97-f6ecba8097a6 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e1fdde59-f7fb-47d0-8f4a-b12d37953c19 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:861634ca-305e-4aae-89df-52373ff4853d phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:de5c18e8-8ce0-4190-a5fd-b4f9b8563365 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d5102d28-5258-4361-abbf-520c5f7a4bab phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6a6a2775-0e99-4e35-a17a-9377b42c8173 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ab426a14-5986-4914-a172-2e6d61c71adc phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9b4182a0-435c-4a1c-bd19-15914d4574f0 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cea242fb-cab4-4564-90a7-633a4e7ee0c9 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e38bb895-cb47-4965-a126-e14c41bca302 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:15a28f53-b086-447f-8a47-2014decbdaa8 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cc1f3b36-9e3a-4b06-83ed-a399130ae9fa phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8c1c5717-40b3-40fc-8224-11abf895d454 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:17fc4116-d1f1-407e-91e7-ddffa3d673af phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4aa4beb4-f992-417e-8876-32bb65359bcb phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:66ab20a4-17b6-4f37-b9e5-e861d47fe503 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:731a8588-e72a-4272-93d8-2a3581a636ba phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:60309794-69b6-4c5d-9306-96eb3f089e59 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:69b31d94-0969-4103-a6ce-ae0c2653f848 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:20f46dfe-b9a4-4302-a038-585afc5cebfb phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:51976a7c-c6f2-41b6-b19e-fc1af596c22f phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c4d8f58a-7823-4540-9fd5-fa53896a7542 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:374b1fad-b051-46d5-806b-750ee54c9899 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b1c5702c-e9b4-4d27-a2c7-9e81813e24f2 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d0361720-3488-41f0-9de8-675484f3168f phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1bb560eb-b3b9-4a9b-8e0e-dba34a62200a phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8f550d5e-b9a7-4c25-b0a4-f4abc0632b22 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ecdc2a1f-6b82-49c3-aabc-fc13a856ca42 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d79c738a-adb3-423e-8077-50b9053b907b phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3e7643a8-3769-43fa-8516-764b62f89be4 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:65a9b65c-72bf-4057-8908-aeaa0c52aa94 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:76dfc885-3ee9-4554-9418-b616826194eb phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0e48b7c4-f307-4c21-a000-4e83c08222c6 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a4ac769f-c17a-44df-8c50-18899bbc317e phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6708d3d9-0875-494d-93a9-1268b48847ba phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bb05ede4-da82-4548-a7f3-5b4da2232a77 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b99f6440-ef51-41f5-a9c2-f48a8cb1aa1b phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d5e68bb0-17c2-43ac-af51-605ef97331b5 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d66974fa-837c-44db-bfa8-1971de12715f phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e663a32b-e3d6-483d-905d-4e7f8eef67e7 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8d467c1e-a12c-430f-bdac-794188138316 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:33d9df63-19a0-42df-b13f-d22aa1105048 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8048133a-abbc-4679-94f6-30af85d5ae2e phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:da2cba2f-d982-4983-be7d-01ba49fbfdf4 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:48b85b9f-798b-4ae5-8e6c-fae2686025b7 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3b5ac404-ef92-4b86-b761-3c3584880da8 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1721a129-4a85-4aea-850a-825c66696cb4 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d13833f5-09f2-4f58-a5d4-01fb1b5cdd21 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f43abca8-8a8a-476a-bb2e-312d78a8c9ba phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:de24ab92-b4d8-40df-97a6-47d040342f07 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:eb154788-b3d5-46d4-bcee-77438600156c phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:82996bce-09db-486d-91ee-fedb47069c89 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b727d3b6-5cb8-4cd8-bce8-2a34a2ea6c01 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:848c0ddd-8c0b-4547-ad9f-46d58444a096 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f18a143f-5fbc-4b43-9bfb-ff4bbe0576be phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b753177e-bd6e-4602-b2d8-77836b45f19f phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:43e40cd9-484a-4f4d-a91c-d749ddef376d phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:79a9ee77-022b-438c-a773-b5bdddc67956 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5b2e3bea-fa3c-48e3-9171-cd8d7c5b9a4a phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:968fd93c-25ca-4f28-9222-8904b981cf02 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9978cb4a-58ba-46e1-841e-80b676d96ba3 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2ad77687-a64c-4275-aef0-a17472f216cb phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:61de2d62-0c68-4dd7-bd8a-9bc94b41cd5b phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4cee8ea6-cee6-4732-86d3-25e89f216ec0 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ab087111-b836-40f1-8c3d-2fc48324bbdd phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7edf1cb0-b53b-4536-af8b-e85c0385ddfd phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:940eb414-8aa9-451a-a951-b894b12d883c phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:68bef7cb-7578-4975-8c32-5d9a5fc68a1c phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a66b25f2-d989-47f1-a36a-ad1c581482db phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:beb40715-d830-4c56-8ddb-af006b56377c phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c463d7d7-5808-416f-aa52-14fc8ca3e521 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6def9407-00dd-4b6c-88f8-34b85ac8b488 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3cd13115-ff31-40f2-9c1d-4e21909018d5 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:19941bfe-5220-48cf-8ae8-b4e0578a215c phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f8d9c8c9-ba32-47a6-bd92-e9d5b5fc1994 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bb71249c-40cc-4a17-8096-4c9346257238 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:57e157da-5de4-4ec6-8e84-bf07cc3eab62 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a4e690ac-737f-4aa5-8641-11d41a74ac88 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:937124c8-c145-4966-80a3-4a4e73c4ceb4 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7bd6af93-dbd1-481a-a656-a8a2088c79b9 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:9274e2b5-faa3-471f-b0ba-b22aed1e75f7 phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:15ceb18e-d98f-4e01-9c56-02623ed9762d phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:4ee39c39-bd36-40e4-8ef0-54619e258783 phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c16d4cfa-ec65-4c4a-bb1e-6a26f882018a phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:51e30681-fc63-48aa-ba71-2e9254e3cc15 phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:f73334a9-8040-4a69-93af-102708b2cb4e phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:cf348b86-ebca-424c-bb43-67e256d2a213 phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:7b43b879-1c0c-4140-ac6a-2ff5ed2ecaff phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:14968335-4911-40de-98d9-2a62c6c3cbde phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:8bfc0417-40ce-4802-b800-eab9d286844a phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:cae33c87-0e2a-497a-9939-62a3083f8cb8 phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:c72915df-366e-4a90-ab30-992790359aed phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:26236464-c7b8-4c33-8765-3694bd8a6b5f phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:ff999400-968a-4d5e-8db0-353c7997aab1 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:6087955a-aec9-42fb-9f2f-7b8e135de815 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:d6ff1762-bf69-485e-b9c6-04f043940f63 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:cc71ff31-6067-416d-baf1-f88bd99224c1 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:0cfd7b1b-4e10-420c-9321-5fc351d4ce9e phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:6decc2f3-70f7-49e3-8042-cf40c83d374f phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a3f1eac1-cb62-4a5f-bb6a-e3f53aa52069 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:d84e8256-24e5-4976-8269-e2ad2772bab6 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:5bbbe14b-44b4-49d6-a940-bfc83714bbe9 phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:52e9dc79-ab1f-4bcf-ba04-30efa6c26bee phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:5bfcb8b0-f164-4513-a5ec-fc3a446fc1a2 phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:b87ed7e4-fb55-4fb3-9b16-68265668700e phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:1ed354aa-667d-4858-ad61-d6bc9c7f11c6 phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:8e421424-7fc3-4ba5-9659-3dddc348bde6 phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:1b9ec0a0-cb31-4f93-9e9b-bdafb0b98aca phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:41f6d406-baf4-466f-a585-21a5a84765a9 phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:56d10531-832d-42fe-a191-63b94f67a48e phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:f6c76ac0-620b-44c8-8ab9-2b222493f021 phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:e6ad4e19-4ba9-46a2-8d36-9f347f63072d phenopacket.store:POGZ.PMID_31782611_PT18 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:9832d595-c3a3-49aa-8ee3-3534ebae342e phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:744cd4dc-7181-4835-aed5-dc38745b7ae1 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:99ed4689-c9f6-455c-acbe-e8346d4facb1 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:0c12f4fe-a69b-464c-9778-378bba842f4d phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:f906260f-f7f8-4415-864d-b4fc29103407 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:5f48c5f6-4aa7-4f08-be97-087f05040dcb phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:c47c7fef-65f3-40bd-935f-fb55000fc20f phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:dcdd0c1b-0dc0-4757-8d96-75a1b3ec5082 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:6fcf237b-ac8f-4473-8a27-9038a7a67d7d phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:31bfa3df-dcad-46a9-8ab6-1d774a5e798f phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:d3edae34-798c-4f25-a3f9-4dbbccfd1aa2 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:57894ed4-abc0-4279-9e34-996fc9180ef8 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:1aafe509-8a75-43f1-9691-59a16db68bf0 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:c1d1516e-b22c-4f0c-9576-8c1e1f261bde phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e525d4ab-a63f-4336-b5ee-de40ede983d3 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:34d61702-6fed-4aa3-b415-55e280e0da61 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:ea604774-c50c-4b53-a8d1-e17a651e2b68 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:e211a356-0b3c-4a31-a87e-171e353510f0 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:da929f6e-97f6-46cc-b119-d752c57912db phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26739615 uuid:8a787dea-aee2-4e69-b37b-8f844045d213 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:9c3bee17-36ab-46d9-aeb4-970226f25f86 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:748f5329-fcbb-4f49-9cff-2a8f2f615a80 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:f3abcfe3-3c7b-414c-a837-3dc28a8f8593 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:a6691f14-14a5-466b-8f25-743757b4df67 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:cd8891c4-f1fc-4094-90d0-d3e6b4538ebb phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26739615 uuid:ba6675c3-0ea0-4443-8935-a3b49eedc4c0 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:00c7ca35-f4af-4f30-a376-2c9299dfc5d6 phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26739615 uuid:332c0504-c1c6-4cb5-92aa-e1f14c348ee7 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c70456cb-b8af-4a0d-8744-96141ba018b3 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e3d88559-4063-426e-867a-ecf87106e645 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:86704136-a8cd-41ec-9dc9-48a9966efae3 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4ee26a4c-18a6-445a-9a42-2f1942cc5cdb phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a6df9915-0864-4f04-9acf-1c9f00b5420d phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:17724faa-58b6-40a4-9148-427fe733290a phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:221dcc55-2d52-4dbc-a624-d5964af7b197 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:cc6c0d06-bda6-46e6-b081-f3c7d3be16a3 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:4358c658-626b-49bc-810f-abd9942619c1 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:376d53a6-3515-4a92-a9da-36a304393fa0 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:d10d5a01-0315-41d2-9c2e-78b31376c1db phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:3952d440-f386-4358-9aa7-ae0cf5041778 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:862bb349-6681-4d96-ba19-11c386cde1a7 phenopacket.store:POGZ.PMID_26942287_FR1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:dc98b3aa-7834-4590-93cf-a37ab5991708 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0a286c6e-f6bb-49c9-99de-8edbd2d955d4 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cd15e1a2-a78e-432e-94d1-d8cb66817503 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f623906a-113a-4a01-8d32-8a506f85821f phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:42338693-e272-44d7-935e-40bfbc5b8263 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c862ed06-a766-465a-8f49-db89b9179f61 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:afc26da5-5598-4a0c-8f39-5de28d535a80 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:689d3028-6823-40c0-931f-19de28583115 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6e6f0f81-030b-48f2-a96c-ef4032ad2ed0 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e9dcc79a-24ad-4e49-824c-4af9270aa7c1 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:01a491f7-495b-493b-b63a-f03760c5a39b phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:6439bb60-54ee-46e8-ac6b-ad3528cf77a9 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:00b36124-7ec1-49f5-af73-4b28bfa3f8a2 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f45f10b1-8ddf-44b6-bdde-fa4f071150fd phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e0da3b90-b123-4eb9-a9ee-64b93d5ed6da phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d5078c08-5eb5-4011-8ad8-ac839d50bcaa phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:49b71633-ab35-41e1-b48c-07802d7cc20f phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ed4fce16-8bca-425b-8eb9-0af27182bcb3 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9c7ef46a-9863-4887-a2f3-fc925249952b phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:41fac36f-6cdb-4676-a246-1f119086504d phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e5add771-6c4c-42ab-bb69-94bf8fb6f651 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:16f8ddfb-30f0-4eb5-a334-0926bbbb0613 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4ee8a133-e4b8-4bf1-b4e4-4f5bfe067b17 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:67f91aa2-84bb-419b-b1fa-d9018f8243b7 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:842c5257-74ca-48a7-ba84-5bc79666e78b phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:537b3725-f7fa-4538-b142-371dd5129f26 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c48acc49-28a2-4b15-8695-9993bac626f5 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4cf85d76-a408-44c8-926a-4d59722dc2a7 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:63eae7ce-6c3e-4229-871e-9ca85ffd725d phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2b1773d6-ff94-4f5e-a4fc-126400bdf0b7 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:72e754d1-72a6-4863-a6e7-89937499d16b phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1e4a5ab4-9e90-4a59-b19f-bfe479657636 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4c3b1852-0067-4b00-ac6d-b884c88b28c7 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7832b512-3c4c-49d8-b94a-1e76e3d5fffc phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:efbb6fd8-08f2-4687-bf9c-aa87c4a2a794 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:dc040285-a572-40cf-912e-014b9079cb5d phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:47ee88e7-4452-4f02-b5f2-8d1e185d97f6 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a98ba27a-5c40-44f9-a752-0de5b0d9b68d phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9305536e-87da-4ff6-8257-2bff1610d461 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0c2ffa21-4783-4a72-91b8-188291b5bdb1 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:415ba54e-55e2-491e-8bac-fa59e225590f phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f97b7704-489e-46a7-a389-3dc97cae217d phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:87856acd-aff4-46b2-a649-92e8490e90fe phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9361446a-46dd-444b-b556-87174a6a44de phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:92d7dff8-9c9e-4834-b9c7-912ca68989ae phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:bdfbce1e-73ac-4352-ac46-5debe4d35054 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2603b05b-dc67-48bb-9984-59a83952d65a phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a3c6419c-aee7-4963-a5fa-9bb505655d49 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0b0e1c7a-e7c3-4d1c-89b6-c634f20bdbf3 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f606de86-3701-4976-9abe-4bbb1e0efc26 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0231a558-59f9-4a3a-b2de-addf9660b8bf phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:926e0697-c7f9-4a27-9dba-25ac37db6df3 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:496d7b5b-227b-4198-aadf-7fcc094e12e9 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9c0461a6-1e9f-4b25-a68b-1e7e2e1371b0 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fbd649cd-c09b-40ec-a7a1-87a01f454fbb phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6e6901cc-0bf8-4b57-bc06-6871e326d5ae phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:54a964ba-cbcd-4160-89e9-c0023beb7b88 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a038478e-441b-44f1-8510-25bbf6ce46d9 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e10987cf-b74d-492a-9222-cf64f499d39c phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e24bfc86-d8d5-4835-94bf-19869851da3a phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:92f54769-b579-4199-bd65-e404970ac4be phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fb9eb84f-8c4a-46c5-b985-cbaae125b03c phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ae7949e5-d74b-44a8-acda-0921a545b6d1 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1967fbea-5dbe-4250-b65d-f3b088590450 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5cf8d0b8-f702-4027-badf-3ef86ca3bd87 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2d72e3af-9c19-4268-831f-5126aa5f6783 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2606ae56-bb3b-46dc-ad65-7d085e926d75 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:65617152-6dff-45e7-a32b-2574cb5e8573 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9a5dbfb9-f90c-4185-b66d-c5c3e3262302 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f241ef1b-9f67-4349-b713-54412b9ccb99 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:69b8b7d0-491e-401e-9321-3cb091593c71 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:309d6349-af98-497b-9b63-3b93c0dd4423 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5dcbf6c8-02b1-475c-9df5-cec08112a658 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:a01cd1a3-8f55-4f10-a626-944778c48e37 phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:b6c217fd-175e-42f6-8cf8-f49b6f3b0ba9 phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:9f26a582-42f4-44f8-b5f2-396899a9fecf phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:a65f6438-00d3-4f13-8862-2be4ccea6765 phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:b1fbbb75-9ac5-42a1-b7c5-524a9c9164b0 phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:f345b3d2-aa79-42fa-9b9f-dd09af5e4fc1 phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:77934734-c31c-4f4f-b48a-f73409eb7cfb phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34645992 uuid:76fc204e-476b-4163-bc77-682bd5309f88 phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34645992 uuid:69265477-3681-4536-9109-91ede919010f phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:730c232b-61d1-4e10-9c6e-60495dd50b2e phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34645992 uuid:f24e4c2f-e2c5-4e12-b8bb-d8a3609c4173 phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:3fcb4869-9355-490c-8a6c-b88cf8437fb1 phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:93553ef4-604e-49c4-87e4-7a8a5fa2e837 phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:b3cfca11-640d-4f45-85a6-d4c844fd48bc phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27148570 uuid:e98a0b1c-5fae-47aa-9bcd-cead6fc5c494 phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27148570 uuid:8582a426-a589-45f9-ae24-c01a03c6c8db phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:7c1e9ba5-0032-4ebe-8906-334e6a113012 phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27148570 uuid:9fc581a3-bc21-49b8-aa84-095f22aaca50 phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:45c7cb25-3c04-4d5e-b7e4-5302cefd14d3 phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:115d5306-138f-49fa-bb46-709e03d293fb phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:a320c814-d39a-4677-ac5f-8e6dc8fcc1ad phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d53aa6ee-3fd8-4675-aa46-a5ebd5c9d228 phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:765d9d0e-0220-435f-96fa-c653ebde95a7 phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:d9f794f7-6f67-4456-af53-0c36a3e66b31 phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:38d4e12c-b3a1-4fcf-a5f4-385d522b87e6 phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:ae44026c-0dd6-4158-99fc-ff404206c25d phenopacket.store:POGZ.PMID_31782611_PT12 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:a1cbee03-84db-4195-8d28-993adb5f7b2e phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:92b87a73-245a-4e55-8077-3a0eac66913e phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:4d4bd1e3-e4af-4c1e-bc43-1438e6e1fab3 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7c39f166-231a-47b0-a63e-d43134f1e53b phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:694e5eb0-704c-4e5b-ba1d-900906441856 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a55fb048-c3ff-4a98-8e4e-d0ad4efe276f phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e0dc54ca-962b-47d7-8529-b235270d62a7 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:25f4c990-a3ed-4ec1-a1a6-c82fa80b7207 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7b292431-4109-47d4-8265-eff06b6bbedf phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:8e3b3926-06a8-41af-8222-2e726f856744 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a9cea86c-eaaf-450f-b560-d05d6aa33a2f phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:1daeb95e-9ca0-4659-8ad8-d132682e1428 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e6955e0b-d414-4559-9f1a-c1157903f797 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ee06f238-a2bf-4647-bf7d-edc0e155c1d0 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:4e1cf65c-7e01-4324-87a6-70280a64466a phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cda8f418-c363-41c5-9520-ed16b78726bd phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a5ee807f-e53f-4028-9eb9-46a1bd3421be phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:ff8a07fd-c98c-4c81-a17a-e7d3ba76a0b3 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b42ff0e3-3320-47c5-9594-7d6588ab8d29 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f93bcbaf-0651-408c-a523-9ebb6005df14 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:174c1ddc-ea6d-4b03-8c77-fcec5f63547c phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d20f02cc-3794-41ad-a8d4-deb0d98a2297 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:2e779141-f59f-4951-a753-be6d39de4810 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:806d62cf-39b5-487c-b190-50893127e01a phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:8078762c-15f9-4cea-8539-a2d23088f2e5 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e9ec7c35-38ef-4834-8432-54656371b1b9 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:be25bdeb-2209-4ed6-b847-b989f9b76b59 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ff2a8e08-cf20-4ef8-b614-f51136149184 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:fdd2f434-7cff-4f34-ab03-96b8f71a5270 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:06243f09-c612-432f-a50e-de5ffa6eedd1 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0f287ae9-7c52-43d1-8fd7-c1ba334bacbb phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b8956df3-c5b8-456c-83eb-5dfc44debffb phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d4baea89-d21c-4c20-9cce-6571fe5a1d61 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:938512c9-8429-48bb-a8c7-7d9cd1f2be4c phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4b5248fc-e996-4721-b73a-7f22c0c9f5a8 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:854959de-62aa-4038-91f6-295dd9bbd1ff phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6d6242ee-363f-45b9-8f12-f4e951bf9a74 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d3d69e08-f65e-4fa0-b8ff-0e5addca00e1 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7ca78646-2fbd-44e0-8d3c-8df10524668d phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3ee94e9d-2787-43f4-a9c0-c7bbd1c9697c phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2dd95d87-cc8e-4e11-b169-2c5097e36208 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f51ccb13-107e-4eaa-aa94-67df8732c3ad phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c267ca64-9682-46f7-8ff5-beba098f26ec phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4befeee2-25c0-4bbe-9063-593768f5aaa1 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ae0200c9-7a7f-4644-90e2-3b6688e34cc0 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7b12996c-779e-4df0-b76b-1eda5cd3ec7d phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:92b3593f-e0f5-4685-bd23-cee5aa1f7c5a phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d743a63e-7991-405e-9b11-95556c723665 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b7c4d65a-531c-47f5-99a3-27e4dc9c8802 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e6cd4b4d-ad41-4f6d-8c98-cc5af410c58e phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0aa685ab-361c-45a0-8557-0f0f822a75ae phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ec39b208-29f4-4e36-be36-e59c6876aa33 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c8e054e3-a21b-4ddc-8e4f-7420bf70cda7 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:11418947-5501-466a-afce-b3bbea619ed4 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4b4e2d2b-5d84-44a2-a12e-27dde1b43089 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:760b093f-5707-495f-915c-d1f6681c8dc6 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d4f406a1-dfed-43dd-b0d1-72d312960c7c phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:a091fb5d-aea8-4a53-9daa-aff3e1845099 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ea2679b8-8a57-453a-9507-bba87bb6e75a phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8b2fc5e4-41d1-469c-9789-63931d7a6dd5 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c62d566a-2052-48c8-a8ea-4b4b781f2461 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:84786310-844e-482d-908b-a93e7596dc0e phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:d25d4169-72d7-4dd0-bf72-cf4fe841a40c phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f52baa37-211c-46c6-a864-fd8464392d4a phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8a84cf4b-641d-430d-a4bb-ad1cf3733fe0 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7643080b-40d2-426d-9230-55eeaeade459 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:3ad3934e-d076-402f-acfe-23ef5f8df88f phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7e270e03-4e5e-4ca6-b69d-27d1177e9bbd phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:1c5e10bb-c21f-497f-807a-ad154065dc6f phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:8f817ef4-6c90-4385-acb9-e5441061af21 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:71fc279e-c0dc-4e91-9773-d64e6abccbcf phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ac6fda65-c584-418e-a4a1-c85bb71632ff phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:eb60d843-1fe3-4359-9d07-3b0352b0e269 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:22eb7053-9eaa-47d1-b289-fb833e8d769f phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:507881a8-add3-4be8-8d0b-dfc714c7e4e3 phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:4e5a890e-e5f2-41d7-849f-dbe49294546b phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:7b43cae8-c178-4989-b5f7-f8c5eb20da7f phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b7cbaea2-9450-403a-9b1f-4198b5f87a16 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7b1b880c-d05f-4726-9de2-1f3059bd52ed phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:08eea8a6-01ec-4369-adba-9b47e62c28e1 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:67aa75f3-df65-4166-bb77-b3b05673a01c phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ea64c54a-1dc8-4dbf-b58e-bdf17644a7c1 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:0141ed83-1fce-4aa6-b0a3-1c65a18949a7 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e8c32be7-0f4f-441b-af6c-035f7bb706d5 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:cf11399c-0cec-4abb-a9f6-7a9bc0742243 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:4047653d-8ed8-417d-85ea-75b458e8ae99 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:6eefb619-478f-4757-a855-80125aee2781 phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:eb49d196-e5a3-4abb-ad13-e08f95d65c1b phenopacket.store:POGZ.PMID_26942287_EE7 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:650e8507-ceb4-4b61-83ea-8b46c10c9f21 phenopacket.store:POGZ.PMID_26942287_EE9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:95307db2-f733-4436-a3fd-35e5998049f3 phenopacket.store:POGZ.PMID_26942287_EE9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:83075616-3183-4a5a-9c96-b7d71dab92f7 phenopacket.store:POGZ.PMID_26942287_EE9 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:1cfc1127-91e0-4f8c-b761-f19a160bbbbf phenopacket.store:POGZ.PMID_26942287_EE9 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:6cb026c0-3d35-40d7-ab1e-5b6cbdca234c phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:d0825aba-404a-40e0-9c64-955ed2756254 phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:e1f59b8a-1700-4055-acad-fef2ea21dbf5 phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:fe0beb19-ff87-4c51-8282-c34ddab7d33e phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:8ae28397-0ab8-4489-8b72-b0ddea551d5e phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:0d243475-273f-433e-9611-75130324d1e5 phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:0b878cec-eb81-49cc-86d0-fedf1b433932 phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33277917 uuid:c2de2e7b-1c94-4825-a36e-0fd057b0292c phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:301c4988-3478-40a8-827e-e768bf37f59f phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:ab9e7c27-24e1-4502-91f4-b0ce85a32a6b phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33277917 uuid:4706b5a6-2bfb-4937-8e1f-623827822b12 phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:cb57f5ac-682d-4804-8281-787ef2ef9ea7 phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33277917 uuid:ead3b2a7-3988-4bf1-b770-807b511c9607 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:d072d0e8-43e4-448a-81d4-3c4924e7d13a phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:c28a6c16-3734-45a5-9c29-6521dfd94dc4 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:f6fd1221-6afe-4f6b-9034-f4049e4520c0 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:7d52d1b3-34ef-4f28-a82d-00e7afc5520c phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:0b53b376-a3ba-472c-a9fc-26f842545b7f phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:e8880c59-536f-448d-a3e0-57061e7a6679 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:496c4d0e-cb35-4a44-968f-7ed2f58a9de5 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:02e12596-2946-4997-a19f-f4a7828316e3 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31782611 uuid:1fbcce79-3e6e-4bce-92ed-7555d03e50d7 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:9636b4fb-d635-4e99-a61a-70ed24de38b0 phenopacket.store:POGZ.PMID_31782611_PT1 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:f319184b-453e-4650-8c0c-0fabb86a5bb6 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:665d59e5-5297-4a4d-a79e-9a7ec2bf85fb phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7b6dac2f-1bdf-4fd0-822d-bcd1908cd2c2 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:7007b62f-d08b-4e7e-bca0-b4d658790a0e phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e049ae9c-e492-41ee-9e1b-eb55fb08dce9 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:0289a985-4563-483c-b9b2-d0bf1818162c phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c73aba44-343b-459f-877c-663e9eb1b09c phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a1746f3b-0f7d-48c7-ad94-f6ffde1bc871 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a09cd32f-e260-44f5-b412-4d4fece50372 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ba553035-421b-4ae7-a05f-887cf34740bb phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:df4096b2-10aa-4936-b293-63bc709a53a6 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:95d8e675-aa86-459d-8f65-2e2293027a56 phenopacket.store:POGZ.PMID_26942287_EE8 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:4678798d-6ea2-4f32-8075-463f59d7d9ed phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:0352fe4b-e4b5-4e39-bcab-6916694e7338 phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:bd451aa1-4957-42eb-bdff-f43892c93235 phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:b9df146d-abbb-4838-9278-cabdefebe78e phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:989cd6e2-d588-4f93-bc29-fa2b81bce34d phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:18039ff8-f44b-47e1-a8c7-8e5df50b955f phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:eaf4e390-feed-4db8-832a-bc16d504e7b8 phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a13a49ab-c6e5-490f-a9f5-950c3912ca6c phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:5658cebe-357a-41df-b3d2-d8c4487db770 phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:01f7232c-d3c4-4812-aec0-08b2278915f0 phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:ccc62ab7-8d8a-496d-87a2-89dda2dedaf5 phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:f0f917b4-250f-4895-b434-ae93daa603dd phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:fde621bd-cda1-4227-8163-382b5cef8841 phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e57ce949-0cde-449b-a9e9-42d4a9be509a phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ef34df1f-7829-49af-97aa-be2f363c756c phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:ac94f2aa-4de0-407a-b92b-051a4903b266 phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:e023d590-9902-4970-9021-d915df587ea1 phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:720c05dd-2d55-47f3-abfd-5c552675d952 phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:a048e018-0536-46e9-8baa-905ea068831a phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:36201b21-fb0d-4c6c-b590-8e17cc94c75f phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:b0cfcea8-7de1-472e-803b-7d3d0956aee4 phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:a7a5937e-bac4-4b9d-b2ad-34fab31cf529 phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:36d7292d-3b95-4e9f-ae5e-0ed419c535ea phenopacket.store:POGZ.PMID_26942287_EE3 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:211640b6-b86b-4a2d-8567-6059338a3d1a phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:c7ba88b6-bebd-4537-a089-30cb6636a574 phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:9a568d00-1b2d-48e1-91b7-2eb389702d4c phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:d04748a6-9117-4c1f-8dd4-e82e1f5fee69 phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942287 uuid:fb6e4df2-e1d9-4bca-ac89-30cebfd3782b phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:32ae465b-df1c-4501-9c17-d08ebca83bc7 phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942287 uuid:9987026c-5bfd-49be-a6bd-352d7316246e phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:b63bc299-840a-498c-b941-5be34f9673f4 phenopacket.store:POGZ.PMID_26942287_FR5 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942287 uuid:ace460ea-5987-4ae4-ad52-582519f1ff8b phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9e63e436-5001-4677-8c72-5c3e5a78e4ba phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:b0b34b4b-2c35-4355-aad0-d68f76bd0155 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:713109ef-5a9e-40ba-aaa5-97be69cc0490 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:f7688c80-f390-431c-a37d-39550c8f4e49 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e9314860-20f9-49b3-9143-8d4a495b5906 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fb05c2d0-7891-4b0d-9b5f-6612ef5b7b47 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:025509af-586d-4fa5-ae15-6b1199a2d169 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:91ae79ad-3fbc-4bad-80b0-2c9c8de75d99 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:e27335e2-5f2d-419f-84e6-98f771edc0e0 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a6a6fd61-cfda-41dd-817b-3eba0c221728 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:bd38f716-2602-44a6-990d-6dbdfbe51ccf phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:721b8bf8-9054-45bf-ade3-5e56fcad64a9 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:c4056323-304a-49bc-a10f-f9fdc45501bf phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:cd900d25-fa48-46c2-ab2a-792d1606f759 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fcf4d108-f61a-4562-911b-584c84d6048d phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:918eb874-ad55-4700-98c8-20127e13f757 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d211a675-dbb4-4502-bd83-0e7dfc5c1831 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:148c3d1c-0e1d-42a0-8e1c-5dab7a421271 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:d314bf78-42be-425c-afc8-ec5ecc978d65 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:05012d58-a24b-494a-913c-b7fe6e1bbd13 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9fb00d15-2637-4236-9a34-a0c9204e567c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:0d51c4c6-2238-4a46-855c-594e6855cff5 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9a121641-337b-4ee8-b719-011e463bbae3 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:37134330-9ba7-43b9-ade9-c87c20e10549 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:10539c8a-d182-4845-b81a-ddcf9eb241fe phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:09ddffd4-6cb1-4d83-b886-76293f92a22d phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:7b44cc16-4265-4ac6-b169-b09c615e6395 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:963e3377-4b7d-434b-a671-e73d22b09e8c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:1906ffdb-1a4a-43a1-8f0f-be2ebdf4a0f4 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:380094fc-30f1-4f4b-89a1-45596cf2b496 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:827191af-5184-4751-828b-349077ea92e8 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:fdf0ffc6-4017-4b21-b688-5126ea014ace phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a059f932-36a7-4baf-97de-6e4fcff9654c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:728153b3-d704-4ebf-8875-c413094ad6e9 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:a99038ce-7b1b-4049-84b2-7303fa46bf7a phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:eec8df8a-038b-45fc-a468-313ab83eb699 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35052493 uuid:9c2f5db1-38fd-40e9-9995-b0d18c0dc2e7 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e731b7fd-3466-42a3-94e5-f98ee121256d phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5400ef6e-e015-4e79-b73d-427978c39a55 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7207fd10-9949-4450-956a-b180e92102a0 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:98458ebe-9800-4234-b564-95c00215a007 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:373ecf3d-1ee3-4611-97b4-a526fdb1c5c6 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:066bf019-acbb-42b5-8a32-6440b895ea9c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:956499af-16f5-4628-ac34-e3a9581e1eac phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:012bb42b-666e-4f7b-938c-61272a726c01 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e618db01-30dc-4f03-8e9a-f94a0f44a045 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:6c62613c-5a82-4c97-b8c6-97a39be36b98 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0cf2cf91-bdcf-4789-a704-0b5dcb59a9ee phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f7208563-c502-4405-bcc2-50b6c72c3032 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b558457b-b937-48e7-90fc-a89b227816c0 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ff0ea35d-ccf1-49c1-a473-e02ad7eaab89 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:516c2091-87f3-4cc0-9fac-201b88737cb5 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:aab30a23-5a1c-4e75-906f-e685d6bdd28a phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:91c9ad98-d436-4c1a-8832-376bfaecaaac phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:86ab1619-47b1-4b4e-97c3-434ff79e795d phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:38cf699d-5e29-41b8-876a-cce57004d3e3 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:39c13314-569e-4f63-b9da-c20d21a3cd06 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:7a219a36-4dc2-4892-b89d-baae60759801 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:88836dff-0559-42fe-9fb1-1a172113eb89 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f2793af3-d4b0-4884-98e2-58b17e7b170f phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5e1c9d57-ac9d-4ac3-8c4f-75606e8f2149 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:915e933a-2e59-4f8c-833a-35d16a7b5f94 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:f4cda69c-9707-456f-bad5-a7435a8857fa phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:ee06a1e6-5fc6-44c5-acb1-e57be0991049 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:348d1081-3a47-41fd-85e5-cae271062827 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b29111aa-1616-4133-be2f-b27be8604168 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2158ec88-a8ec-4c44-b951-69d96192b04b phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:e61d1fd5-45a4-465c-8267-d51fbc9552d9 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:4fcd2a85-9f29-4181-81d8-a18e464a58b8 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b266e21c-19ce-4035-b89d-7f762beedad7 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2defd34b-729e-46ea-a4cc-deb5bf6a25ee phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:0a12f130-4067-4207-b290-e425f963fdc0 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:46d3afc9-a70d-46b7-b0cd-589cc3875c80 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:09920c9f-8d00-461c-80fb-12aa846d711c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:93ea2dd4-236c-4ee7-819e-545ea9d9957d phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:766f5667-3ece-4232-b505-0e336e66a294 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:b5b3187f-e0d2-463d-9356-c7c907895a9e phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9ed660ff-10e5-42fe-9fc3-0f9aac6531f6 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:c36f951e-b858-4dfc-b9ea-3f9087015353 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:88b1bdcd-1df3-46df-ae75-7f9f228c45f8 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:daf22d51-177d-4e89-be95-bd3a30b159fa phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:350ae865-db4e-4b40-8ec1-dfe03d640564 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:9d998254-6fc2-45d6-a669-c1949f97a75e phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:2a07ef14-a9b6-47bf-9498-750f60b65e63 phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35052493 uuid:5789009d-4c2b-4e69-a201-e37b5295b97c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:8565687a-a520-444b-b91d-10764afabc4c phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35052493 uuid:83d4db5a-4afb-44c9-9976-6935d6d8a970 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2daf9961-dbf6-4482-975a-15cf3d9aed53 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:919af414-3102-4875-ba3b-7380f51476c6 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2a72d1a2-cc48-435e-abb9-9995df8371a7 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:2f584cb0-7465-425d-a2f9-565a6de34ff3 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:f58cfa5e-6e34-4495-9e60-5e20ec27537c phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31782611 uuid:c2104c1c-c922-4c89-a989-c468641e6b92 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_disease OMIM:616364 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:d7c2ed4e-6c70-46a0-8e63-79295bdf4bc6 phenopacket.store:POGZ.PMID_31782611_PT6 biolink:has_gene HGNC:18801 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31782611 uuid:c83ba52e-dec7-42f3-8936-dfeac9f3783b phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:06d1f368-ccbc-41d0-81b7-dbee8087c607 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:c689b18e-770e-4369-9d4d-408bc85e52b3 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:5028e0c0-3637-4085-9d3d-5875dbed44f1 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:d0b576db-3e1f-4706-985d-e1b9b5243ae7 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:44521c44-c902-4133-aef6-f78ff2e69c60 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:6eef4ee7-4571-4175-bcc9-adb5d3dbcf79 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:062b431b-0437-45b4-9528-92c40901b591 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0004469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:b3ad91a8-fccf-4d09-993d-cc14c770eba2 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:3e5b9ddb-8b9d-4e90-a34f-df1e94c64ba6 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:930c723f-3413-45e4-bb1a-c039929144fb phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31449058 uuid:ec21b475-9006-4e6a-a870-90f602be0b58 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:b38a1589-5dbb-499a-ae93-a15d14b57ee9 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0032275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:44714f7c-a9e7-4080-b02d-867b30674490 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:b22ace15-adfe-4258-98cc-12e472e26538 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:6d597025-232a-4bef-bf4d-3dc6874c8459 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:a5221753-eea7-4957-beef-75f829ec9662 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:e92308ae-d687-4938-b867-b9a3c6daea76 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31449058 uuid:38a4cfd4-3ab4-49cb-93fd-033452ae4d60 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_disease OMIM:620836 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31449058 uuid:e0f8affb-0964-4895-b045-ea8d19d6bc61 phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:has_gene HGNC:9175 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31449058 uuid:2fad8d57-4d9c-4a7e-abe4-55ecdbf372c8 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:f4f888c5-6f1d-4120-a7fd-176541f4e6bb phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:445d8acb-f960-4dd3-bcb0-142723905203 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:c6cb5d5e-ff6b-49d7-a1d7-6011a33c74b7 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:9254cea6-0348-4d37-8fa8-521a8e9b6d71 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:b06ddc35-94a3-48b8-a9e5-b4a47b824d3c phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:e362c9d5-9d76-421c-813c-ab2f357cb276 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31629014 uuid:bec264e9-34e7-4f4e-8dfe-92f72a3d3280 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31629014 uuid:e2af06fc-34f8-415d-bf6a-0436ea63efcf phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31629014 uuid:91a56818-b264-448e-bdc5-77977d745f8a phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31629014 uuid:36857fcd-9f00-42ca-aabd-d60d315ab607 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_disease OMIM:620836 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:31629014 uuid:611266cd-259d-4166-8eee-bedba601ed88 phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:has_gene HGNC:9175 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31629014 uuid:3719cbc2-f29c-4a33-8127-5cd9eb586208 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:25ec597e-6c24-4d43-90c7-bc35e030e28e phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:80118d4d-1019-4670-a511-e109a045b83a phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:67e6e2d7-3175-4556-a221-1ad9cdb273a8 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:2c039d09-3e25-47d1-99af-5622c44ba9f1 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:8a99d792-ed12-4347-965a-c82ec7e37dad phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:0fd11ad7-03da-43fc-aeeb-c53b87647c69 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:31df1c58-3669-4096-9769-be02ac353a31 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:b382ac3a-3620-46b4-b168-2e8662e32c07 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:812316d0-0040-4d80-b11e-97b76e7ba4b3 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31629014 uuid:e1b26b8d-2034-4f09-b3fe-057b5389e8e3 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_disease OMIM:620836 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:31629014 uuid:9cf2376d-3457-4e22-b39f-33431fee9756 phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:has_gene HGNC:9175 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31629014 uuid:6b0eb3d8-73a3-4379-84b2-7b251a7f0d4a phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0410028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:31629014 uuid:af4edd56-04b2-4614-b176-b932cbacb0f4 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0032275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:31629014 uuid:0856a80d-25e9-42fa-ba52-0770c9b8174e phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:ccf34a20-2a48-4cb1-9988-aef73130e00b phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:20483eca-2f9e-46b6-963b-f0809e1e4612 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:8575a669-b34c-4b1d-8081-e374779d5def phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:519e91ca-abd2-4139-966e-8b208349f842 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:22dc0caa-d333-4964-8476-3a827e075b90 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:91898d0d-1d8d-4fb6-b423-6db132edc990 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:6e6a40e3-5a17-495a-8202-7f167113f5dd phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:16b10bf6-b3d1-4dc0-828f-ca2054eab13e phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31629014 uuid:9a906631-18c3-47d7-85a8-73ff5e286fe5 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31629014 uuid:85b7201e-9235-450e-bf26-d63bded93764 phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_disease OMIM:620836 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31629014 uuid:1ee82af4-6b38-4e68-ab28-494ceb8b6edd phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:has_gene HGNC:9175 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31629014 uuid:12f364d2-2808-4af4-bf9b-f6978b7466b4 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37030525 uuid:fe474175-d8fc-41d8-af6c-b715b43662ad phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37030525 uuid:a0e053c1-0afe-478a-b1db-279b63ee026b phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:87d1baa4-b4d1-43fe-a748-9dc781f748e3 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:ef6294c5-d568-4e72-b9fb-40a438bab8d9 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:12eaebf2-3b39-48c2-8e69-271c510642c3 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:96be0efc-35e6-49e8-b2e6-b46016a7f4e3 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:d2f15cf7-6e48-4b10-93bd-9f26799faa08 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:4507ba68-8544-48e0-8d55-55225d90c07b phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:220e617d-6536-430a-bd2f-6db92960254c phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:b0129e5e-e8df-48a0-af98-f0176e886b09 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:ea8250fb-36e4-4ce6-bafb-d46a037101f9 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0410377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37030525 uuid:0f8fd235-b47c-43cf-b7f8-4c80d9b6f5fb phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:f5c90fd4-1391-45cc-bdbc-43cbb7a7ccba phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:9f479942-0305-4478-991b-ee1f0be5efb6 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:5321ac2a-d317-451e-aa42-f53e80f6bd44 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:1b52b379-74f6-4c4f-90ee-71088e8e4829 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:43914861-c57f-4445-be89-9fe286d0df98 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:26cd0a6b-4729-4083-b293-97b88dfaf375 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:44f0b693-fd45-4e02-afa8-9238679dbf57 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:22a7a176-b626-4758-81dc-b9874b4a8e4c phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0410243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:d9d5276d-c8e1-4dcb-ad88-29c2712919de phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:3ee2029f-beff-479f-b150-2467df85e87b phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_phenotype HP:0010975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37030525 uuid:ae6cee22-29ea-4f58-bc9e-c52565516a29 phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_disease OMIM:620869 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37030525 uuid:d25393b0-ac7d-4e8e-b82b-1f600fa0059b phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:has_gene HGNC:20932 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37030525 uuid:68948223-286b-49da-9477-e288efc9c9e1 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:38099988 uuid:06b74b1d-798e-495f-982a-412e8546a3a8 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:38099988 uuid:5be6df0f-e7b1-450e-b3e4-679645bd47dd phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:3bf87a30-9b77-4075-bcf2-7248c1be6ca6 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:31cc6a50-0687-4e02-b545-4c3af76b55e0 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:29e0e955-fada-492c-9eda-1700874c37c2 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:cdbb4a74-7a2c-46da-8e4a-bbd570b95c0a phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:2c20bf51-b8f1-4567-83ee-c4386073badf phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:f2a261ae-1fba-4fd6-96c4-a9720b38091b phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:346828f0-a283-4680-a14c-31c4999de11a phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:ce4b6f60-286c-47c4-9f2d-6138b8bdcea7 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:1543b67f-6b58-4a45-8d13-e2a5da9a737e phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:c404a281-2c9f-49ac-8631-2019bcb165a8 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:a35df983-b92d-484f-b3f3-e3ec0d6ef1e8 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:da25e4a2-e24a-4b53-9c6c-3d2fc6eaab49 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:0d813953-21d9-4eec-b788-2d310adebdc4 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0005359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:565da231-04e9-4109-bb60-6c6dce78d321 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0004430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:3f64ed87-63dd-462e-a1e7-84e8b4193d00 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:70a346dc-6153-4c5e-a3b1-8e28846ead4c phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:61369571-80af-408f-b8c8-d501e783c374 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:909a81f9-1eb8-44b7-b45c-add6bcbf3661 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0410377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:44784ee5-cb13-4cac-b12f-57b24356f43c phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0032126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:a1468ced-cb3a-49f0-8f2e-081e0d049660 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0031430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:9fc9f5dd-0342-4417-93a0-b1f989bccebb phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:550281ca-4b71-4ea4-8016-0211f56b9ef8 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38099988 uuid:5ad01e34-3a6f-4ae3-a105-78d68e5a70ef phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38099988 uuid:44852f75-e1ae-49a7-8b24-1e7c331c46fd phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38099988 uuid:bf64bd66-189d-4fd8-a858-ae0e235bb311 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38099988 uuid:23fcf354-7a5a-4944-b298-55fc9604c891 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38099988 uuid:9efc64a1-9353-4fbc-ae49-a20bdfd6c191 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_phenotype HP:0410243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38099988 uuid:4fd46b04-7a63-4433-8b2f-c5254e61bd13 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_disease OMIM:620869 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:38099988 uuid:2e102b8b-a67a-4264-82e6-0e4688b5e3f9 phenopacket.store:POLD3.PMID_38099988_patient biolink:has_gene HGNC:20932 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38099988 uuid:be667eae-4d72-4d77-a2de-e2f370388e8c phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:28051070 uuid:bf56a9e4-b4ad-4a0b-af58-69f98fc20b04 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:28051070 uuid:918a5e3f-fc10-4494-83ee-55ef55f59972 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:51d02fa2-68e7-4711-b4d8-a6fe1da6785b phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:17fdb97b-3eb0-4783-8a7c-0c439c3dff91 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:a5bb2d7d-82e8-4188-b4c1-0786f994def6 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:c0315cfb-578d-459a-acc8-65da52e63b44 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:7488d344-06f6-439f-a5a4-27ba47b30caf phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:45748775-c142-4767-af11-48db02f4ea3e phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:95882eef-c382-4e49-a2eb-c8b5fa822af8 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:d7666178-cebb-4792-ba69-91e929625d61 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:bbd209d5-f85c-4f4d-b38c-0cc5edd46cea phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:0a5bacd9-1de0-4971-b90c-39be49965f2d phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:90e4679a-47dd-48f3-bc61-4c49c3de69d3 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:3b664211-1fbb-4070-8c44-ae4f2443b624 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:c9517459-6406-4af7-9916-e4e41770c503 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:edf8dd1e-69f9-49b0-94db-47c5b6ac259f phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:06c383ef-5683-4cbc-9426-883afb7d5350 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:1fe1f42f-8f8f-4146-8774-b39c4b8cc73c phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:b14718ea-493d-4786-8f10-11aa988e9bcd phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:77b6aaf7-83ab-4b7b-b30d-8da9d7f70efa phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:67867de0-163b-4b84-99c7-6cd1e3db0bdd phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:8766f68c-cc04-47e3-8c79-6ff49d7b7cd2 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:d52dbf71-9b4f-41c4-ba26-33b00056af80 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:0985fd7d-e15c-430e-ba7b-3082f7561b6b phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:de5851fa-6589-4927-9ec1-084f0b7e0bc1 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:98247133-d780-4b30-b7a4-6588c5818348 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:022111d5-52b5-48ce-abaa-e4c2027839ae phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:43c4c9a0-081c-4680-b33b-e87c4376a2a3 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:534844ca-c298-49c7-ae56-690a84f4228a phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:28caa39d-afe8-47c1-aa2f-ef1705402d02 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:7b71f0a5-4385-4b1e-b004-74513ae1e1c4 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:6549d3a1-7dc1-434c-95cd-2d373a41a721 phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:2911a62f-6c3c-4b0a-90d9-3a6ede5f2e7b phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:6f393492-c688-4f13-a39f-aa75a8441c0e phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_disease OMIM:620675 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28051070 uuid:1ca43f10-6491-4a80-9d33-b6b917cdba5a phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28051070 uuid:91187a2e-e7e9-4803-9d6e-57899817e252 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6376e678-1dd7-43d8-93c3-544daa8a53e7 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:fa721708-763e-4153-9aa0-0f11a2a1e22c phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:817c087c-89ec-42fe-93ee-65312804c9ae phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:30b01e3c-7728-4979-aa0d-2224f578da0c phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:af42cca7-f500-4808-89eb-daf636f85999 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0ee57dff-75d4-43d9-b013-bc12d2e52d2e phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0986cbbe-061a-43c6-8368-2dd03e5584d7 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7ce7acea-4163-45ff-b2ca-1d7b43a3f9e5 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9adb8e4e-8890-4d81-a63e-ac878294cee8 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:63b73845-0918-41ac-8409-45af8bbea618 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:902cf179-512c-4cb4-a195-1880ae98ef41 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d14baa67-0d61-4aab-97ef-fa570c23c316 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:820684bb-00c3-40a3-afe6-2fbaf5b14571 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3deb8a55-627e-4cbb-b16e-330ca492d9a2 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e98fd586-057f-4586-9b59-fef14113bce4 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4f84564c-c75e-42f6-9fe9-fe39170d70b0 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c8ce686d-586d-48e0-994b-345960ec4f93 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:19c56971-f14f-4153-b81a-4055ae96186b phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:41821523-6bfc-4b50-9bc0-f61c0abf744d phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b89c04ab-445d-44d9-b9b5-07692c35936b phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4e7dceb9-76ab-4c8a-835f-dd94e1964d32 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:546282ed-a41b-4396-99e1-4e377af18775 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1537a250-5e14-43a3-85e0-00bbc541e921 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d0cc72a9-7731-4166-984c-8f82ef2b1c5a phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b4043aba-95ff-4dac-aaac-f97c65e57c60 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:20257775-ee97-41f7-bcba-518621026105 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d5e4f504-fec4-49b7-9504-063218d41624 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:32e858be-e3e1-4a81-8ca3-5ddec76916d2 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7196d530-1b6c-4b91-a57f-9f2506227639 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fa27a35a-ff2d-41e0-83e5-3fc357d54e94 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c16c6435-483a-4c49-bd5a-e5367012e245 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f99a3cbe-d59f-43c4-bc5f-dc8f89cf9db9 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:151ea284-c75f-4ef4-9f3d-f643b6b0feab phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bb352448-0c8a-4f1a-b87d-b8202ce58f6f phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6e922322-6bd7-454b-a9bd-53f75ddeb1ae phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:64e4cf65-a886-4253-9c14-b244874836da phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:32f23073-a01c-41b0-8602-f667013e412a phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0a031b4b-c9d2-4c23-84c2-bbcfa89ee6fd phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:de54483b-b1a8-44d0-8c26-4871c581fdc2 phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:f1adf6bc-bf95-433f-829d-305f5c027aad phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:4ef334a7-58b0-40db-afb9-bb032682d690 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:ebbdf6ed-8634-4c5b-8f4c-0d3af65b4552 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:2531cda9-9aa2-4a03-a5e9-9a033641f640 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:e470fea8-10e3-4fdd-93d8-5f2102569cde phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6afb7319-1b5f-4c9c-b9d5-af34bb2f9e73 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bb517f4e-cbb9-40b8-93ca-1d47e938e7ea phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f5af5e29-10d7-4e61-bcb3-8736fb1dcd14 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:641034e9-03e7-4cf0-b22b-9f4b405c3101 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3f2405c7-9171-421b-9c13-32db295c6704 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c6967472-3a81-45d6-b4d8-31632895c766 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:905af771-78af-42ca-a5b2-0ec614cf913b phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:201732c4-18ae-4a93-b585-3535a745c457 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:194f513d-13ed-451d-997e-f424bed8745c phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d4f7d805-03b0-42de-b918-5fd91f23d784 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f900f983-3799-4522-a52b-216221db0b2d phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:50320214-2c94-49ef-8ea0-803c582cbd15 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:93d1f7d8-3fc8-443e-90c3-6ec194154561 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cdbe3907-cfbd-4f7a-a4f3-7f02f70300e6 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8a0d6b19-3df7-4c11-9611-28fa99027e2e phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:156b4ab1-7a43-44ca-b5ef-3fde9705414d phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:dd29ccf8-2870-4e7f-b4bb-29f8c7300b33 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ed7491f7-8ebd-49f8-8a2a-2be25b840208 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e7cf297b-067d-49fe-87b0-e12aefe56e60 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1cfc4e4d-e1d5-4653-a048-3dd059f63f79 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c85a687f-45f7-4c6f-8a59-629d3e72fc43 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:94a8ff46-0162-4ba5-a8b9-3a3d92d2fe9a phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:41a27ba2-bb69-4850-8565-6a4fef68c37d phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b8c01e93-20da-4bc6-9d8b-e50cf55caab6 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fa91b078-c373-496a-bd36-834a263244b3 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c4ca044f-d36a-44df-af7d-0ea668149a6d phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4e460533-a438-46c2-91e4-e1d987b75790 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cc14486c-ce51-406f-a164-9ac8e5fd6df5 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3159af46-b20b-40ae-a22b-f1d504685479 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e830edd8-d5a1-4314-b800-f90e87239930 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f7d0fc7f-8122-45f3-8903-cc86d4bc8985 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c2cdc409-5436-42c2-bb5d-286f8d1abd51 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:db1fa585-0316-4b0a-9c1f-e6a45f406f4b phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e6eee1e1-7636-4ec8-9b8d-6b9f98e8af6b phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7dbf4808-3f20-4e4f-a191-8d53d766d2dc phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7beda055-54dc-485f-8440-3b79dd07c8ea phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:aa5f198d-650e-490c-bbb9-f7ae1436fbe1 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:d9098336-893b-4f60-a48d-1fe461d397f1 phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:91233927-c5d0-4f1c-a133-a7c0ed6b22bf phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:8122a33b-f7a6-4f03-af9f-5280c4f030dd phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:d5785d28-17c9-4017-9522-cc7b6f8a719f phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:18935c35-5deb-46d6-9392-20809674f093 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:96361b1b-0d96-4b75-b0bc-559260434846 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:0c279199-0584-4cf0-a0c4-6cd6d8338a82 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:3054f75a-e9b0-4648-ac3e-03c9e7e9b80a phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:0de1ca1b-ba36-4903-9c40-574d60ff7a1e phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:55b5a9c5-7a45-4890-88ce-c72f2474a125 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:3a820a72-5889-4150-b3dd-8f964e2dc614 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:e18dcf9d-33a1-4745-b365-c4143c7f9f88 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:abd9ef5b-9de4-494d-ae46-bae2beecf429 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6189898d-7a5c-4261-9c1a-95f011c8d76d phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:fb359104-3090-4181-867e-d3c620abe97e phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:dae85948-fe91-4535-ab57-36549b10328e phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a9423ed9-a59e-4614-9109-2b3e25da1d60 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:140f906a-aab3-4a31-85ef-b3b7b1e19486 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5d26a495-da2c-4882-9763-5a9646cceef0 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:859b9439-1767-4ac4-9a0f-cd44324679f1 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1b93aab3-461b-4838-8315-01b85af8c924 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3b17cd1d-5690-4515-8da8-5e8c16be6dbd phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:08d63a40-5b0a-4978-bbbc-2617ebbf903f phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:46183890-4d9e-41a6-89e9-873fb38112cd phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1247df4e-9a41-4755-9568-149d522dae00 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:41b287f5-f308-4a2e-9443-0312d1ed8012 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fcf06375-2995-439a-89d1-75344fd4d956 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ec382efe-f1b1-41ca-85c3-4bcb08e9f1df phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ccda6c9c-ff8c-4702-9aa5-a1f6dd2dbeb9 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:572d7c25-3c38-4246-b6fe-c49c00c7a5b8 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f4d1bb93-7327-44d7-abe3-0b7e7aecad30 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6ac8ec3c-3f60-4031-9d3a-9df947a14537 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0c9ff659-f1b4-4fa1-b308-ec55222e4977 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bca5cd82-bf70-41da-9a36-c999127d0a75 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e2d8baf1-344a-4f02-838a-863da488efe4 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d332a25d-480a-4b05-84b5-5a75fb75526a phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2fc7ae85-9a56-4f32-8cd1-acb260beec54 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8f0dfb72-e88b-4b07-bfb3-93868d74d828 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8de2107b-a885-43d6-b75e-c2d99ab72e42 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6e7b60c4-6ae8-4d54-8049-678c0d38a299 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:50dc75d5-3e64-4e6b-881a-b0cd12a0ea90 phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a34d636c-fe51-4449-8981-8de8ef71868a phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ebff3695-dc2e-45cb-b5bc-a7e84a80312b phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:422dc788-0656-48ac-975e-0086469cc7fd phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:ee8755dd-7ce1-4162-add9-5c96421d28c9 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:c4603f3c-9387-4195-a676-752c09424490 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:fcf9df42-5d4d-4346-9991-a03cdd4dd6a3 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:5811d0a2-1097-4c4e-bddf-8fb879d71ea8 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:da60ad36-2771-4b99-b0f0-2938916f8441 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:9e6d34e5-5ebf-4709-b82a-c704320382bb phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:461e7901-bced-42d8-9ce6-c15ccbd781d5 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:544d36d2-658f-4a96-9ee4-81d36ffc9ee7 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:40b57ef7-7185-4d91-b79d-b7013390b0da phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4c006419-2e80-48f9-b869-941a6d5c8213 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:76c927d5-a85c-4eb5-8438-0737f4caac4e phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7ba557f4-84e5-41d2-9aab-48bdcd23a40e phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:44e7cf4b-87f3-4db5-9251-fe35b896723d phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a2823b57-6734-4e5b-b439-a4c207ad5d42 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c7a14b94-aa89-41eb-be82-ba4e577e4e85 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:07ee951a-937c-4c8a-bc71-ec89cf0da821 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:563382ce-4af2-4bd8-ac25-64c41611c38d phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:338f4873-3959-4944-bfc1-5596b17a9cf1 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e36071e1-309e-4cf5-82f0-444dda8d126a phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e1a66a33-db52-43d4-8810-372b87b2940b phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:785e7ac7-62d9-4660-be01-63b0eb6de661 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9dc216e9-daf7-4efd-846d-bb332434215c phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eec23806-2361-4dec-9d59-371457cd98bf phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7b6b3e75-9ee8-42f5-9728-09ee08b646db phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eed9a716-0090-4704-ac3d-70366ec08af3 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:86987d4a-053c-4048-9421-f467456f1c97 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b89f92ad-dffa-47dc-90c9-ccd10bfb90c3 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6d3cf5c3-4487-47d4-a1a3-8facb00a2a30 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ed6be1bc-1501-4a5b-8a2c-498a8dc37f9d phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ff9cb5a2-02c9-45d9-8ae1-ac6920b547ac phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:58108a75-6870-4ddc-a5de-266eae89a184 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1d5097d9-6c7d-48f8-886a-d446cb8c5885 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:62f402a0-9f10-4f23-a2b0-1cfbf4723b2f phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3cc895d8-8d03-488b-9537-bc881a4e4cdd phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:60ccab71-7675-48c4-9286-a12c34db8e8f phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d7ab3c20-ad88-45a3-9ad2-7e9d39b9169c phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1a88c2f8-e834-48b3-a4a6-26a24b28c9fd phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5507b051-769d-451c-a139-972103cafe2a phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:55289375-93a1-4964-8c64-1ca7d79f2981 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f34ac598-d4e5-437b-b8ad-3e52eab2c369 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:79de73bf-bafe-4f30-991d-c8d531890f32 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9f1a8b09-b274-40f8-811d-f2d0a12167ba phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:426c6410-a1fa-458d-ac83-907505120499 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:4eabd86d-95c0-4d0f-a73d-0941af71f7c8 phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:d7b0de78-e292-4ee5-a917-5b845822f27d phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:3aa2f909-7bfb-412c-afc2-e6172dd68213 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:aefe86df-ff42-4f0a-aa6b-f6867998cc53 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:16cd0226-9cfd-41ee-858a-e94fd34904d5 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6725886e-1338-425d-b017-d4fbc1952df9 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:622cb728-2ea2-491d-8c2d-498aee9ab25d phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:57ca8394-4bfb-471e-9182-5634fc1ae3bc phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:982c7fb7-d912-44e3-b21d-92e92b330520 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a7f8b983-6400-46ad-88d3-1aca4c1c5f0a phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a3ec7f6f-aa3e-4186-b4ce-22a0dcf57d5a phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b35c8e10-66c3-4a8a-8c76-4db74b46e826 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9d2fda36-39cc-4b6d-86f7-e361800d286b phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:152db11d-87f7-426a-ba6a-3debda1db0b3 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7a238ccf-3fb5-4069-b330-fc66d3c66a28 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8bc6ea00-4974-43e5-8e0d-d7ac2c631840 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2ba8b18f-e5d8-48b7-872e-80960e249f0d phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:733df0ee-0c6c-40f1-82a0-058e32deb41b phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:dfa4857f-df68-440a-bc20-a33b9b22662a phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ce3a675f-763f-485d-977f-e032e3ad3a45 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e43b286b-406c-4798-aa47-d665727319f9 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2ae13acf-42ae-4154-9d78-911214c12288 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:62393238-414d-464d-8ebb-21cc515cc77c phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:08da1ce8-ce45-4531-81e2-df9febc9913b phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2bff2358-9d53-465b-8a99-cb2ab93e6a35 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:98fda3e7-75f3-4d6e-9419-d358cff851a5 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2a2fb165-2854-4ddb-990f-f889ee90a3da phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:feaed211-3898-4a6c-82f8-a3b49752fd9c phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2517e599-9e6a-4306-9c3c-c8148026acb5 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8cd0c3e6-644d-44b5-bac5-7a4fe13baada phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e091baee-911b-4757-a48e-34bbea9197a3 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4c2c3189-7784-472b-896a-e7d9e5259e41 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c7c3c19c-a2c2-45e7-94dc-c571d75454b5 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3ccc0121-45b8-4b30-bc7f-eb08912492c4 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d35fd146-d00e-4537-99bb-a8dacfdc6584 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e20abca6-a5ed-45e3-b15d-666f5fad38f1 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eaa23b92-6d22-4fb1-b001-6233dcf50552 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6efadf28-3790-48a3-a95e-a217f70d4a9f phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:72b5e78f-ff19-4748-b868-249fd2410345 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:480d4ff0-5324-4964-aea9-305e9eca7f33 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:dd9cfbdf-2bc1-454a-94a4-d65ba9d4bdac phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7e2a0159-4d8b-4ba4-8e68-4fc069a2794d phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:00b71d76-5db8-4940-be21-fc63a43f60a8 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:6dc19799-db3d-430e-ba4d-186bf27a3924 phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:c6216208-67e3-4b56-9f6f-2108281a63c2 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:db66029d-2fa1-432d-b166-366e1a45f516 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:bff5557b-a418-4f2e-aed3-26bfe58f498a phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6cfb4c71-9b16-4b37-ad73-d850701c7f9a phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:10f50f4c-4f2c-4922-b223-eb7e9c5302d7 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:14aefa89-6aee-4063-bef8-21474838d1b3 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:da530632-9115-4f38-b4dc-1ff7eb3f88d5 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bd4c77a9-f57f-43c1-bb9d-55495c0baa5c phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:df0cedee-8e01-42c1-9c38-2580ed8b0317 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:54bb4817-430e-4fc4-830d-62bded0f7cef phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4c992cfb-c51d-41f1-a7a7-151bf5ff1a99 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0d5922ee-70ca-444a-acb0-c4afa46bf784 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:74f829bc-c9d3-4b12-ad3d-65617d67f0ac phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:116cb675-e34d-4d1a-b031-fded8c2b5f05 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:56f340ac-8e2f-46ac-bfc1-0e89148af19a phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:943326ca-547c-409a-b00a-e59056706e1b phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e5b4dd78-5adc-4771-b150-36df58f58140 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0d9403b6-f491-45a1-949c-e224df6e3e9e phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4bdb3f01-5e20-4b4d-8271-097a0c04d92f phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d84ab72d-db43-43a8-a9b6-8f3063897675 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4138a8a5-5ec1-4e4f-9aad-dfd059cc349e phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a396bc28-f9bf-42e0-896c-05d136acd13f phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a5bbd476-47e5-44a6-bc43-a853fb90a119 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:260cf754-7f16-4202-b883-92d8272c35b1 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a552f2d5-c66e-4a79-960e-c5f2c2669198 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:63337c7d-43c7-469f-8247-9284e50d79de phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4c6fcc9a-9f5a-4001-9e2b-7a2772326809 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c0168049-db3b-46a8-af7b-74ffbaad4eff phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:98af3be5-a049-4dbc-aacf-b01ec7898c00 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:857f25b4-74df-4fd1-b7f2-0aec4b148111 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6fb6c56a-6d04-4cd5-b583-ad4b6128cf0c phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f5cfd813-dff7-45bf-9dc4-7dfb3bea1a7b phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7c06652b-44cd-478f-a5c5-2d6c07d28524 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:63571294-9028-420a-aaf0-ea08e91be913 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d302a076-65f2-47b5-9189-bb996e4e27bb phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cd16c510-bbd5-4f66-b0a3-46055053ac2c phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1c44c7f0-9b72-4c1e-8d68-ed5364b445ed phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ee439ff1-137d-4fe6-a3bd-493166e4eb63 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2ed58965-1f79-4221-8bfb-e4fe1a7f2435 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:265d3851-46bd-4758-9197-b779d08bcaa1 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:24eb5584-7c59-4bbb-9b74-4391fe95bcd3 phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:dee8c459-c65c-4631-a465-e44be4307daa phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:36917474 uuid:c67ab58e-e46b-4699-ab02-8d28ab3241f6 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36917474 uuid:477a30c6-789a-4ba1-9551-6d3c9bc52546 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:36917474 uuid:412d778e-5cd7-4b08-932e-f800e01ba04f phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:36917474 uuid:fc2ce8dd-e16d-4ce4-ac43-eed8736926f4 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:fd260372-60ef-4c60-86a7-415485f26782 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:668e428b-2f1f-49cb-b328-0cf172e4c5a4 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:2436edc1-8d92-4c2f-8214-dc60f4f81542 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y1M infores:phenopacket-store PMID:36917474 uuid:347762bd-6603-4c1b-8e16-d80030c53d60 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:36917474 uuid:60742c64-1e12-42c4-bb93-1b3d2fa5f0ef phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:e00f1ec8-d81e-4c9c-9bdb-185d62880eca phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:0ec150b1-cff6-4acc-b811-0700f21a3c7b phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:6b07d2de-d8d3-493e-be88-9bfc0ed1d850 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:b763aead-2b97-41b4-8909-584a0118f1e4 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:54ba31bd-f09e-4c55-a1aa-dcd684921a37 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:894eb75b-d68c-4f43-a4d2-30fe5e5313ed phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:1dd183f3-d370-405d-9f0c-3743325062f0 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:68a33778-9681-42a3-84fc-6a80e2f9a553 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:699e9e00-ea6c-4258-8282-26a069258166 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:4ac39d8e-4b8e-489e-b19c-715e976f1472 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:b9ee8aa9-6c98-45db-aa6f-7fd05420133b phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:3f9cf11c-b263-4db4-bd65-cbe1e3554820 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:31b74a94-678b-4ad4-b448-41b97f42d72f phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:5c418cc0-e085-461f-87fc-790492025584 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:d456d3ed-328d-4996-b6d9-bd82ef724fe9 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:bbd9bd79-4a0b-4633-987b-c34e72fba9cd phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:8893a325-4d01-4eb6-bb31-0a7451e92669 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:e07ec44f-6702-49ce-ad0e-4b24fcdc3ffe phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:9e7c9d43-7906-4770-9cf2-a9dea2f18787 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:1fb73f42-d4ec-47ee-8446-57c43854df0d phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:1aac8c69-7c0b-4bba-b240-e159e6b8e17a phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:3a47289c-59b5-4492-9c26-b392ffe364a0 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_disease OMIM:620675 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36917474 uuid:61bf0192-cd60-4d58-9456-b06c3b7cf816 phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36917474 uuid:1e431596-b733-44ac-8fc4-140d63a8ae8d phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:d21b596b-0527-40e6-ae7e-60bc43e34d89 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:eed11e13-c4ac-4ac7-8ade-d6d4d83144af phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:18d511ec-1a1b-4d60-8d6a-4890094ab8dd phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c996edad-1f6e-4a3f-b2c9-d7debe64b715 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e4fb5430-93f4-4d39-913d-5186c338d646 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f229d0e9-83c1-4a30-b837-3296333f22f3 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c6e27b5c-995a-41ee-88dc-034f52f90de5 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:87991cde-26c9-4ace-a39d-79969ea12cdc phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a2874b45-6a4d-411b-a40b-066b173747bf phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ad400979-ef97-4342-a2f4-4ab8ce3c6e6c phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ecdbe932-26c7-40bd-90a0-a75ed461fd28 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b5a64a7c-e358-487e-9e02-7fe6b43f90c3 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f0471c2c-47af-447d-85db-b831fd4611f9 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0a5c9203-759a-4c49-9bd6-cf91b1e2f049 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:259d1197-2134-46ee-921e-e2658e91c44a phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4ac93ad0-92bc-449a-be8c-800186d147c6 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9c85b108-9810-471c-87a5-a530780b194e phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:84d2f888-20eb-40c6-8176-e865d08f1835 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eb233460-f4ef-420a-b97f-a3a7f1c8e2cc phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f9673cea-aac6-4724-ae2e-c65bce54c963 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2c6f52f1-fffa-45da-b3f6-09a88da0ec15 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:429f798b-0c1a-476f-a71e-d9a5cfde178f phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7272b22e-d9b4-4bae-b2c6-b75dc969755e phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d4425e26-21e1-4f17-9dfb-85dd275ded60 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4fcbf838-f11e-4c70-baa2-a43fd7a7b043 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3081280e-d2cd-42e2-a4c7-e1c53f9bdc36 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6dda1b09-077e-437b-bf90-205bd75aff5c phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:de819b78-dfca-4e65-8ca7-49ab82b477b5 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:572c4b40-d337-4060-a61e-5dd4732b1d50 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7eaeb746-fed0-431e-9e22-993f550f51fc phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:da4e7394-1d1a-4514-ad21-63817ca0eca7 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7a620597-eec3-440c-8b6c-8f928342d36d phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9d8d1b8d-da43-47ae-9eb5-9decd66ed228 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:32e2c35e-cb77-4c28-bebb-d4e94be5ac59 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:95ca8326-7951-4b73-81b8-44d4d34a1f24 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:45d3468f-6707-4a38-8b8c-ce7ff6556ec4 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:514f5c31-661c-4366-9fe4-882b61e67479 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:afb9e2c2-4190-4e13-b0da-236722ee5668 phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:d8688bc9-f582-4e69-b35d-4be643d427fd phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:1b13a6be-78e2-4b75-980b-dd5814aaa6db phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:287e8ec4-4c7d-4f45-bbe6-a0b3717974ee phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:f17c427f-112b-4431-bdac-50c866e19e66 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:d2c1814a-9942-4d66-889e-90da03a66c43 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:3db7752b-1916-4aec-ad30-5a12bdab47f0 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:dd6ecb13-0b37-4955-8004-5a49bc0d6905 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:1e4251ad-cc9e-4b3c-8385-533af9d1eb86 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:35c1c3e7-9da7-4ad1-b9b8-5c9ad73ead59 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:0c530f48-d6a1-4838-9f84-c3c372904c3b phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:f6e4e04c-9be2-46fb-b07d-5a4cba82f73f phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:7065c238-c7a4-4ee8-ad78-3c3daf72f7a4 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:b271cfe5-55f6-426d-8299-f6d3d524e3ab phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:694d148f-f872-4eb4-8c1f-8aab1110c425 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9ea075f8-b652-4124-9455-a19a0cbed18b phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1ff4fb70-5c56-4038-a6a2-8f93ac218c11 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a64dd12b-5487-4dad-a7cc-8517fb520369 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:de446714-aee7-4e58-8987-5bc0e49f4861 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:50f018ec-329e-460f-8ee2-78dbaff9b5ec phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fbc2df27-524e-4ab4-8e41-df5846480d34 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:93189d13-c6ab-4ec1-8a20-cdeb620708dd phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6fbc1da9-fb2f-4dfc-833c-09f89f38704e phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d3cbbab6-7787-4486-84d2-6f9e456cae98 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cbb9a8df-cf6d-4736-a758-77964b681fa4 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5ad2ac78-a7d6-4ad1-966d-f4aa367880af phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:324b2817-7184-4f95-8b44-a8d30ac63500 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ba7754f2-e54b-4dda-91c5-76cb8fb38274 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eb2afef7-8884-44d4-acc0-dd1c01f20384 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:137a86bd-d2d3-4cfc-8a66-a9fc49e1308a phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6fc66626-5712-4e0a-9d09-723f6610e813 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6600ed74-b208-468f-b045-92203c401cf9 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ababdd14-ee1d-44a9-b1ac-c9f249d599d8 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5dc0f713-a56b-441b-9142-b1513567bb0f phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b790ec3f-becf-4c47-b571-1e96e7fed96e phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2e38f0f3-36b7-412d-ae5c-eefb01c8eda8 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:de44a6bc-7201-4cd7-a89a-41049a258597 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:11a6ba57-ae77-44ee-b246-47fa2f52d5ea phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:24921408-cda9-41ed-ad0c-2416c34bbba2 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1edf16cf-b296-4079-9593-88ef884ddb91 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ac0a4fec-ccff-409f-91f1-a8e7e4246ae4 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e5d075bb-3430-4ae7-9c24-9202d69785b8 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ab4df4c9-434f-4832-9b7f-d29fc72832ec phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:9ae31848-858c-4971-942b-2cd233f545a9 phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:e6c5a1da-eccd-4730-963e-cf64c15e8fc8 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:e7d26a53-e19a-4262-af37-d9d4126d83d8 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6dac711d-79cc-4db3-9cd0-c4b3243b3b90 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:a7e06c77-0258-4c08-ad1a-974061176eb2 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:54f07a7b-78e0-42bd-9cf1-ab75f2534375 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:b642bc73-42a6-4199-8094-21fec4da9f73 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:9651d01f-042f-4a8b-8d08-7ed1fc93807f phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:33782fb6-5c58-4be8-aa54-082b68c521d9 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:710845b7-9468-4659-8f11-1031167cade9 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:34d15d78-47f5-43fc-9453-290047a738ad phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3f568b4d-dcdf-4873-9d53-5ce118ea668f phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:26c2ba25-8a50-412a-be6e-9023bf59c707 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a7c41d07-6118-4b48-a566-ef152ede76fb phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bfddc1dc-4270-45ba-8fea-5423c4aa6573 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:39cfaf3a-80c6-463a-8dd3-f70f3c9ca822 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:91e70aae-a641-4a71-9397-39eb55e24628 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9c3ae773-f4d0-4bc8-9351-14183a670964 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f413569a-9d08-41a9-98dc-72ec065a5ee1 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:aa64e36f-69b2-4486-afad-504531fdfcea phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2a81f174-6fe7-4ad5-93d5-4e8fbf6ed5da phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d777d069-5799-4ed7-a48f-ba8281ac3e59 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c75470b9-8d57-4219-b3f4-cc88f97e26dd phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c02f3336-d04f-4bab-b4d6-c54b3c76c20f phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4a60872b-c2c0-4bfe-ab1d-027ccdeadfc0 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f76b62db-040f-4e3b-9c53-58501bad1b4b phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:67431d2c-3430-44c9-a993-9c214974ae73 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a6f1cf9b-d6cd-4f21-83ce-c17a41fa40ef phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3ffcae9f-940d-4d6a-bff1-7a473297092d phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cd14c397-ae10-42ee-bd3a-979bfa7ee510 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:279268a1-c4bf-42b4-8e33-cba3c21afd17 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:516277aa-5d63-4f98-932f-5ac70cc3ebc9 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b1684583-6160-465b-a625-6896087505a8 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6e1fdaf8-7888-4174-9111-0db21b8ccea0 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8b030c98-8d34-4e68-85be-562d216356c7 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b0c5a4f2-5f9a-459f-ab46-dd379419a736 phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8d3883c2-a584-471a-bc9c-6e57d0b80d0b phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b5b8ffd3-e99c-4428-8c0e-7133f271b4ca phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:7b4cd9d1-dccb-49c0-9da9-30051a700f5f phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:10a76812-6799-45d7-98de-a7986c8fdd2e phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:81fc8271-a9f8-42ce-a867-9dc44a045ce7 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:36917474 uuid:2344a6cc-307e-4757-bd72-117e6880f7dc phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:36917474 uuid:8a19d367-2bdb-4e76-a1e3-b4be82d85e08 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:36917474 uuid:8eedefac-eb65-4153-817f-51e1898a028e phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:b7b714cf-fa02-4cea-9edf-9d9b94fc49db phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:f26890d4-cff0-4cf7-bb9d-0a5501b5b0a3 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:d0fbde42-d784-4477-b36c-8fd940f47636 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:30aa46fe-d01b-41d4-b180-3b60f76137e6 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:7aaf79a8-7e56-48c1-b499-247cab64e593 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:a7035cfa-88c9-421f-998e-1124fd18192d phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:056f8ae2-9600-4003-823a-27f4aa8ad860 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36917474 uuid:bcc3cfc0-4f71-40cb-8114-5454ced5bc66 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:119968fe-41a0-4bde-b25f-9356b45b04b6 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:615c8ffe-c5f5-4c75-90d3-fd5a26994fa1 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:a635c5f2-6ac0-4bfb-bec4-7675d0a5609c phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:e45b5534-3425-4420-bed2-8a4ba2ad2df9 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:76b93cc2-ce6c-4f16-9d67-3f22a3051b3a phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:e82740e9-819f-42e8-9e1c-4bffd824c034 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:bfa4223b-939f-4a30-a752-826213d227a6 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:3a8ea283-0e30-4e15-8098-e266e6c493bf phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:44b7b050-f1be-4895-8ba0-0b983600cedc phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:27072afd-179c-481d-9b03-d58139ff9b33 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:a48f0a5c-4cf0-491f-bafa-0baf64598af2 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:3192431f-2031-4c77-bed8-f1ad8a4d6b71 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:980b0b29-4c09-4c62-b7ac-3d1ee5406de2 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:271e02c2-006a-4906-bef4-72b17703e5de phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:d210dfce-8614-48cb-967a-4738f028dbd2 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36917474 uuid:33e3122b-1602-4aca-9eae-b8c70a445151 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_disease OMIM:620675 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36917474 uuid:07238246-473c-4635-9495-770cf1747d74 phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36917474 uuid:d6e170c0-1e8a-41c2-9fa8-fe980d62d85a phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:5e85a8e4-176f-43a4-afd3-c0df600c5247 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:08c4bb87-108b-4cc3-885c-ca5a76863117 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:9ad94154-be4a-4002-8234-dbc2f11116b4 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:4775370c-2608-4646-8d8e-21ac91e0c0f6 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:8b46732a-e8cb-461e-aa27-45fa66955e38 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:24603ffd-ebc9-41ab-8070-beeb71fd8469 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:38360bf4-132d-4cbf-b97d-0ba52f401f0d phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:4499522d-7225-49b7-84fe-e7b43048f266 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:1425f044-b77f-422e-8027-c69ff2fa594c phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:f0745b9a-407f-4350-aa52-ba64abd4809c phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:61f52712-233a-468f-9656-32d6fb6d5da6 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:23eac881-eab2-41e6-8e9d-3011a2bd73e2 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f0f1ae71-48f3-42c8-afb0-8019a5f10b11 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:049650a0-151e-4d19-b670-25f5493edcbe phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8f47dc45-7cb1-48ba-951e-5f4a70266423 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bc952f1d-3c0c-44f1-acf9-8b4b24b7fadb phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:141921aa-5264-4588-8d4f-3375aa2bf23f phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:59fe14ff-ca9b-4471-8218-b73590396ef2 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cbef6171-c3a2-412f-9fe4-23a4b5edf93f phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d78b78ce-488f-4f09-9ad6-610cd2b00bfb phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b6fb9c07-8c25-4855-a754-62ca2eb41022 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:171d7e25-9695-446d-a520-c03fa7650bc9 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:82cfe741-193d-49c6-95c6-95d6f891602f phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7e22c2f5-1ec5-41a9-8839-d68ee9e2a99e phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cb40814c-e9fb-4311-9ffe-8beebf1334fb phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d99d56b8-91a6-4e55-a500-ed2bd4271093 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:56ae06e2-76eb-4879-bde9-141f1ea23e2d phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:117dcdcc-a3cb-4e3f-ba6f-10547085461e phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7dbb199b-7aa0-4ec9-a907-571588a381ca phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cea297e1-48e3-4fb7-8790-2cc76b381624 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:af21a856-166b-4651-ba52-19bac6044cff phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1ef9e4aa-3fe4-458c-8b93-5df5d8f1409f phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c9f0ee74-4e21-44f1-a9b6-b6bbe9902206 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1fa0273e-1fb8-4915-bd19-e056b2c471e6 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7e407c5c-5d97-419f-834a-1f4b0f29f202 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fff81ab4-05ff-4ef8-a83b-7523d2a8853e phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3ec1bef9-f642-40e8-aba8-713e80b28384 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cf4f0dae-fad6-4470-b204-d0c0969bc829 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4bf48871-3993-4b63-9d35-cebe922c6d0c phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d154f6f2-68b3-46d5-8565-0004f889ba56 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:66ca397a-2a5a-4f20-9eac-587f262dd762 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:845e7971-f717-4a1a-8dce-9a3083d817d8 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:09e8e85e-10b1-42aa-9406-942320db3822 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:747a4cbb-1c78-4995-9842-8f1bcdcdbb85 phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:9fba7aea-97fe-4ad0-907c-2c6e64ac4fe8 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:49ce3ebe-8b5a-4fb6-9cf5-519e24218397 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:091702b0-8310-4276-9927-dad8260dbd25 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:5ce5dfa9-6ddb-43b4-819c-07109e4f6f13 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:371c5f7d-2e06-4223-9689-1676825f9662 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:edf3632f-5f38-4252-9016-06ba9437a8d2 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:45242401-87b7-4be3-8dc0-fd4247691a31 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:177a18c0-aa50-4651-9d5d-38527ebc17c7 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1d2e2a9e-0001-4459-b324-cfb4b965c7c2 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:59fd6e16-d468-4faa-b1b0-4d211f7c2880 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d1300920-bd51-4225-9d77-6c5477ba582c phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a9412baf-2b67-412b-a2c3-faa42591a745 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ad41f1dc-7942-47e7-922d-914ab36b1510 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:81db2eab-0577-4fe4-8700-a5591e35be76 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:925a14ed-0525-44b8-977c-a3175fbf41b8 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:17497991-8bd5-4da9-ac56-7b6690d4c57d phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:74da09b5-6f69-4f49-9785-db52fd2726a8 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:10def607-6535-4724-9ca8-1ed4b757e40f phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:259cfbc5-0d21-4769-b4b0-9b2786bba3ad phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e4f376e3-a489-4aa4-8829-29401cb2a892 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:04d4126d-2c9e-49f6-ae38-1d3b94a11d46 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ce3b0a21-7bf2-456a-ad95-327d93d82f69 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:baa2d9f7-1e29-47df-8773-dd94112012c8 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9426b029-bf01-4c91-996b-f984fc30db2a phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8f1216d2-a84a-4733-99a9-401625abbf5f phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2bdb8319-4d2e-45f0-b273-4e2e65a0d7ef phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b75f6d9a-2e42-404c-a17a-0b00bff013fb phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6a036322-d416-4f73-8884-13f28c742d08 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2868f13b-b02b-4368-aead-4e51ff419700 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f0015687-5620-4034-a5a5-4f30d5cb363d phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6eaba2c0-8e57-4337-a611-b7e57daa87e9 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3aa7fe74-fa03-4cce-a032-b945293dae39 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:01bdbaef-94da-47bd-b963-74d9c7f0c988 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f0a1668a-035e-41e8-bd1a-0023ea20ff4c phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8569dd8f-a97c-4279-b448-c8f39d6642b8 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:48c6a274-5902-4946-b5a1-5703fc59aa43 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:90b61cc2-3c97-473b-a271-a4d4d7fd8214 phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:b799a57f-3eb3-4491-8901-a49ee9c88848 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:e29753f2-bca6-4c0e-babc-8fea041881e4 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:1e9a1673-4415-4048-acd4-f529d8ca0d7d phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:65797908-ea8d-439c-973e-aedad4fefec6 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:b31a7003-216a-46d6-90d3-e0ea108b8787 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:a48afef8-99f5-4b49-bab5-1936cb221165 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:47c26c4c-c002-4bc7-a9bb-38e0f6a24aad phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0ac0b01e-6493-4ad8-b471-55eafd060c5a phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d2b34889-699a-45fa-8fc8-12bfd1cab1e5 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6a632bfe-2ec7-48b0-ba6e-b06af5ad05d2 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3d7cbd3f-54b1-4912-a421-9c3a744a0d17 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3e2a20c4-4158-4b95-bf7e-b7c0598aadd7 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c419f589-54ba-4d6e-ae6f-78546e7eff72 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1fc24fb3-5b6c-49ad-8c0c-ee5fa75f4871 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1d984b14-bb3c-435b-a312-6f45884639c9 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8e1857b4-f936-4e28-892a-92ba45b91c8e phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8dee82c0-34e8-4bcd-b188-cc7ac61cc8c9 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5bb5b8dd-0fad-44b4-8be4-2fca3e281282 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c8abefae-38e2-4069-a121-2dc90b0f92c0 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a508c441-c666-481e-b86e-20a398d414ea phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d4243bd1-64b7-4e9d-8424-4978020380f4 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d1cf690c-0761-4468-a88d-46232c5b04f7 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:82fa01d3-27f7-4eee-b441-6a674180b6c1 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1ec95ea9-ec08-483e-a6ce-9c2bb6d42891 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:57ec3d90-0fb8-45e6-a0a6-867e2d4629e7 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f9cfb166-5945-4564-b41e-c89a55312890 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2a9c7044-fd1e-4999-89d8-c478007395dc phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:709d12e3-e7d4-434d-8c09-21de7aab4b7d phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2a258fef-94be-471e-803f-175d4944b076 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:98be57dc-5bf6-4953-8c9a-6f5f6e6c08c5 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a5114009-9e15-4f72-96ec-1e48aec91c2c phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b28560f1-25bd-4b01-90f8-24d0ca5cbd9c phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:27f5a120-6e2e-41bf-9181-c339ef0fd3d1 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e8cca084-3ecf-4428-bbbd-86966d5668b7 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:da10d530-8b8e-4dc1-877b-da32d0ac901a phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:79794cee-e491-4ca5-8f08-9d0e0fc6efa3 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b3461b68-b251-44f7-871c-4c723137b5be phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e656c973-bb15-4c0d-bab1-98498a2f9bf0 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eff4f427-b500-44fd-a7c1-d8f319d59fbe phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a11a748d-8a69-4883-abef-449387e94e6e phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ed58a049-9bd9-4498-97c3-f001e7a908b8 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:88459bb7-928d-41fb-ab7c-e0d9e2d2f7e6 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7434c400-b26a-4d41-be89-35031a71576b phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8b838103-a1d7-40e1-b985-9cef5ba8d5c0 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:ce238acb-f4f9-4f00-937f-a59ded55e396 phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:9b4dd410-8626-4e09-a279-9b295985771c phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28051070 uuid:502e9bf2-d8b4-4bf4-b1a5-b2781195266b phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y6M infores:phenopacket-store PMID:28051070 uuid:89c4fe13-e6c2-45d6-8b10-0d6d650dbe07 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:cfcfa4a3-183c-495a-80ee-36329d455205 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:bd38856b-af79-4ff5-94a2-77c47965d727 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:dd2ab9ef-5aba-42fc-93eb-17ecb569fe87 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:57863919-7b72-4de0-8293-eb0bd3d18f46 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:dcb5b959-a1f8-4d60-96b5-c6f33d58ff01 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:979ba31d-3b16-4136-85b9-78a694b0bcdc phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:6da5ef46-6357-453b-b9a8-a215da7bcfa1 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:938c0d86-6679-407a-8913-68f971df7bb1 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:ecc4634b-6d3a-4bf8-aca5-a13fd8ed8dc0 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:d08b4e4a-39e7-4540-ba02-dd5241dca8b2 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:1e870751-7280-4950-a409-b775eee4ee05 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:5e88e0bd-d8ef-42ca-a43a-a86f6bee6ca5 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:36091dd8-fe0c-4aff-9a1a-e23ae1a0b669 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:b32b0f2e-18b1-4752-b2d1-9f549c85705d phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:19fbccd6-e061-46e9-8a37-cadc3404fe66 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:5249189a-f15d-4243-aa12-d7ae5e058d92 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:8e3867e8-df5a-4663-85e7-6b7c873d4f59 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:183c0d94-3881-4a94-a458-694974eeb098 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:872c5929-7a05-40e0-8110-8bc638010034 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:1e90d80b-68e2-43a1-99ab-b851d2fd3abe phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28051070 uuid:5c2a20f5-5d88-4726-98d1-1bd0a514e703 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:c0b8f580-2b0d-4407-a266-f2c38e8a324e phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:021f9e28-19b7-4fd8-8b40-b76ab0bb1af9 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:7ea191e1-eeb8-41d7-a256-733dadb6f544 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:ffeb14e1-3aaa-4dfa-9921-12017469d8e7 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:f0de219f-7cb5-469c-9646-d1d2f6bef4c3 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:749256dc-6d54-4fa9-afe4-2f21c7c35ace phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:83c0423f-d93d-4b14-ba73-d537692c4f3f phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:cd9e9929-f15e-4746-877d-1dda2493afdc phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:358952a9-0ce9-4ed4-979d-34067ac8380b phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_phenotype HP:0001998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28051070 uuid:d1f07e5b-7e47-442f-bbef-681039311cfd phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_disease OMIM:620675 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28051070 uuid:f7ff2837-0096-4a98-babd-d0069736d1f7 phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28051070 uuid:de536344-116c-4f8b-82a3-925907a2a9a8 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:2e4f9e2b-2296-4d84-8527-f28381682ca3 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:ad0e3f33-8dfb-4f5c-b02f-c486349a846a phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:5cb5eb75-bf0e-49c6-92eb-ce5dc5067c61 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:86370839-78dc-4bda-b33e-7c5f17c47b17 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:5f72b15a-dd7f-4d25-b095-9a3c6628d751 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:3c9a5e30-3843-4957-a6e0-4a4304f273ff phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:ee702752-1cff-46fc-a2f1-815647f1f81f phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:2d0f506a-a8ea-471c-98a0-b6a8de4fb336 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:aeb0572e-2a12-4352-9b60-51059c7e8c0f phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:919c2bfb-85f9-4205-9bc1-caf64384c0a3 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d4cd688c-762e-4526-b7ea-5de667747e28 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2bfa18d7-6d9c-4ad1-9c99-14f0d1c2c0b1 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e5709eb9-3781-4285-a00a-e3ebf9782c03 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:14ccf683-21af-4743-85d0-6ca13cef566d phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1144de17-3081-4fec-b360-56e17b09b613 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d57d019a-908b-47f9-a0c5-b046ea55e425 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f37a13b6-3a73-4f21-8000-027542f543da phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:469992bf-1418-4f83-aa03-9d69622e4047 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ec99468e-80fb-42cb-a536-eb331be4833a phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a69b80e1-fe0b-44d9-8ce3-8048575a2203 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:214777de-0840-48fc-ab38-59bbdbe05336 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:68610f2a-4e67-4952-84af-0661f5330674 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ee4bafc4-3fdb-4ad8-9bd2-1d1e03070db8 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5dba53ea-ca0c-4eec-8724-222b45f2055d phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:32c2e478-b20c-4cb9-86ea-2ef6e7658068 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0a842500-fe3f-4b26-bc34-d3ecf63cb42e phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:030b482b-bf36-496f-aba0-3378f62651de phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fee81c9d-fdcc-4c2a-b60e-0d4a9eca65a4 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:719b508b-8d1b-4c20-90e7-69823f048104 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:970b70d7-b9ec-404e-b488-7d20da25e6d5 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:76f95966-c5cd-4006-95cc-1986896a3f34 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a6af6d48-961d-422e-947a-63e56c277647 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0f325a95-52e7-477a-a1b7-abf328b35828 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bdc468c4-7089-4e3b-b7e7-128e92bab452 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a64758cc-edd3-44d4-aba0-14dac441a869 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f35951f4-1e83-417e-8c21-a622bd28f766 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a159d159-95d5-4bd9-b057-9db67247b3b8 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:77b84dc1-0563-48ef-8d30-3207c029b78a phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:17869ff9-0a73-46a7-96ad-a313e6c94c2b phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c09143cf-07e2-4495-b4cd-3c71867fac99 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f3e7cc1e-d825-4b2b-afb8-6f3ea4794c20 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:06ec6bf7-3dc2-4b10-ae3d-5febc016df25 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:20c969e5-0e29-4fb8-9cbb-bbb06fc77516 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:ad596671-5d09-409d-8618-45c614075a23 phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:d838e460-b8b3-40b6-a8a7-25b55a9df631 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:c503aa08-3e25-44c2-b6aa-3553e1be86b8 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:7ebdf9ad-9439-40cf-93f7-9eb2827fc015 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:1b11017d-0f32-4cb8-bc57-2ab5380f4bcd phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:623e741d-29b4-475f-8bce-cb4b45139951 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:ec903c78-8f89-4495-b9a9-2ea0ab86e553 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:58334fc6-3870-4fa5-bde5-298a349ea10b phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:ad23f856-9497-4767-b313-854247235366 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:76c37e4e-3fd7-4fb0-aae6-01a6474d415c phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:54a1e8f6-371a-4a83-a709-9c28befd0e73 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:db7a9a10-891e-4202-8e1e-2f918baa432a phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:7636d9f7-86ba-4c3f-b2f1-b2d17164d573 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:774c30a2-505b-45b4-b766-6b1c1b2d0538 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:a01b41dd-d8d1-4879-9ca2-d04172519a73 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:657030c5-08bd-4eb8-b83e-c2bcef8c08a8 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:c8cc19ba-87ef-46fc-a7ae-a5ba418ff35c phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:019c462c-0a23-4ff8-8c91-8e8f4dfdc32a phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d3569ffc-0456-45b1-98f1-bfea8c454b77 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:650e6a85-5dff-42e6-ac58-01c09bfbd931 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a91f2120-b240-40d3-ba54-3805b683f6a9 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5d9a1ff6-8a93-4217-9119-181642eae795 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:481985cf-a042-4b64-a0c9-f485641304d0 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:768b6c86-3a27-40a4-bdd9-82b6c073906c phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fda14b5b-f819-435d-9249-d3cb6c2cf992 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5c512364-0d6c-47c7-8613-77835c51f9d3 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:99cbac61-9ffa-4dad-a243-4df0de210bc3 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b8294d5c-89e5-4545-80fb-bd3f28c69ab3 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:66a37543-31a6-4cf5-884a-cf2d4e9b4017 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:692912c9-a321-40c0-ba09-66b2b8b3ae0f phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cc8273e5-13be-4530-bb86-f1865643438c phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4ee2b0f8-a721-411a-84a6-aaeb28a12f33 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:13faafa6-b3a5-4e26-a5d3-7e7be38f704d phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:abd62868-dc34-42e1-82f3-acd00523447b phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:02c8d48b-0049-4678-b8c7-688f445884ec phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:dabf1e39-dc40-4ffd-a295-cecc3e091cdc phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fbb50c81-3045-47bf-8c3f-b1dbcb9424a5 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6f5221eb-9afd-486f-9c49-6910d476c1f2 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:112b08e5-6282-417c-961d-e8d1e5f64d6d phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:31380323-9982-4b6b-9f1d-b289f05e089f phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b7c6b20a-8f71-4ba2-92b5-fef004009979 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e6776103-d185-4198-b1af-80a73e71734c phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:31987ffe-3f5f-4f01-903d-ec12c9a7785b phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7e2a00ce-df21-4030-b018-888a07b4d7fb phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:369e9ed1-bdd0-4254-88dd-75850efea5cd phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eeb9aacd-4eea-4eee-b8af-41c899b64c4b phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:20a93831-4265-4eb4-b1d3-14a3f0558df8 phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:68df1ff6-5ffe-4698-9995-596919b70d37 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:049fa472-6647-42f0-b63c-3c3ecc1e77ae phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:94cf3e6f-bb17-41af-b5ac-32a5445fdc61 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0f25ca3c-ef02-423a-8bf7-641447dd9d85 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:472c40ea-3e8e-4cc0-8636-a79ed60e5450 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e60b2993-a189-4f29-94f5-61138249198c phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9f497bb8-7eb1-48a7-99d6-f56adbd69b51 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b3d63b2c-3769-42d6-ac43-913a63d5d731 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b1247d72-e5e5-4c74-ad97-9f2973c24ce2 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:43d885f9-1788-4c81-9305-e678f80a7e34 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4116c5ef-11cc-4585-9763-630832944880 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fdf94626-34c9-406b-a25b-99f86b5a39ad phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bf5f6ce7-148b-4b22-8a61-5f58c9496d6b phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7127cd24-77a1-4385-9d8c-15969e896789 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:dc976e18-26ba-4caa-914e-debe45da1367 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bbb09746-d89b-432c-b182-12069a0063d3 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b7ad70ff-353e-447e-a873-73e757cbabc7 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2623949a-91b6-404b-b9db-67a04420f40b phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3ceff5cc-ff97-4fe6-8fd0-17e5fa1550b9 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:53a6c662-6540-4804-80f2-b29eb992df41 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b0adb2ce-88f3-4b70-9391-00909beea596 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1c774dcc-ed7a-43ca-97a2-aefe8d25e60f phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:039d7fd9-9b91-42da-9e51-aa8605f9e7ef phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f597a3b1-9f94-4309-a3cb-9d50c923e906 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f6d45dc2-6d29-4538-89d2-03559cd3847d phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0d6ca3a6-8234-4d67-ae27-746d4b9d3950 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:31d369c6-0b83-4ce2-89b8-d6e32bc93b7f phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5e94c5f9-7754-4b65-84bc-ad55cc8709c0 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d2f7c6a8-cbc3-4283-9f09-f34cde0e515b phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9139d763-f3c0-4f70-9513-6b2203b86860 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7b0214f8-a2b6-4b53-b529-3cb0c32ce8a3 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0526190c-43ea-4453-a571-6d92444ff9f4 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fb3e96f3-50b1-45da-b799-2a954c2f4f3b phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:219bf427-16da-41de-8f61-37f083092d31 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:04e2601c-7b75-4ded-b5ab-e69d6dc1875d phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e4d99d13-ba29-4166-8f7e-50d5d807b57b phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:30aef681-88e5-47c5-b3f9-4019627d2b74 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:27ed4371-5ecf-4b3f-b903-3e7e89d7ede5 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cc877987-4c89-4913-9327-39a6a81241f7 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:629653c4-4dbf-44e9-b3da-f220b883b7ec phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:7207a574-59e4-41b2-a979-97a5a2291cce phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f8b4f13d-ad5e-40a4-8108-cae38adb5b89 phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:064d045a-7e5f-40e9-acf3-2ecfa7a42cbb phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:04db30ff-36e6-4b4b-93ed-261bcdd76598 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:b2f78d2d-93bb-48a5-83cf-ad06f9c558e4 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:f149cf05-d9dc-4216-b914-4c7e113e440a phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:bda1c614-1e8e-437d-b2ed-1573d505656b phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:a3a655ca-eb77-4601-a211-588fb92db7f5 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:5ba2b082-1f42-4a85-ad96-7211033ba239 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:a2a94fdf-2999-4167-8c70-2e908bc77acf phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:69b9fa05-e12e-4d8a-b9f6-c64d0376621e phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d3a0c477-e25e-4230-9e7a-1fe71186ae4c phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:10f4a1cc-0488-4575-b5f7-81bc984d38c0 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5006fc04-c7d1-4365-bdb5-120795242640 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e97c7a64-4cc2-446c-80f1-e707ce85584c phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:94eb4b1c-0683-4386-b1f0-0d21c00e451d phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3236294e-1617-4b10-a3b7-12e3ae0728b2 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e2f8af57-7701-47a9-b1f3-ee89504a8e5d phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:cda3846b-ce38-4b58-9886-2316e7a11184 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b7e0ec94-1148-428b-8ecb-43b22bc44ab7 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:757fe854-94be-4c60-83b7-8f695c3f4648 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:63d4adfe-94fd-4865-ba03-dd4c732d424a phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8c5feefe-6703-47bd-8d3e-36aa1de29c85 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:83b46e08-e5d3-4c87-9182-193f8f7aa2ab phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ca3f473e-f0c8-44fb-9568-ff9447a55bd4 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6b63b645-8628-41dc-b887-ac3749300233 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f7efffbe-fefc-4753-a58d-e55eb72fa7b3 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:533307b2-40a6-482a-98f4-dff0aa89c30b phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3ecd5a52-e6a7-44a7-9252-2ce24243cf41 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:fe10d799-097e-428b-bdcd-1351ecfc61bf phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9281c086-3d6d-4e3a-b6de-375648f619cc phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2908235f-ddad-4745-8220-7bd82cb99675 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c7c874a9-ee6a-4ea1-9080-c45eb9636327 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1b218093-af48-4b85-bf25-22ca3cbd5e3b phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:17596aca-27f3-43bc-840f-5cedf4e0c823 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:6eec383f-cc74-4253-ad2f-93a4cc4a8113 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8a7a6d98-c2d4-43ab-b4b2-4e40ee8fefaf phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d7b02309-4c25-4625-bec8-7c5aec526578 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:09b74efb-9fba-414c-8a7c-6f1efe196d44 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9db8e516-7fbe-47c7-8153-64fbd758f6dd phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f398c6e9-45d0-4e58-b981-9624603716d3 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:46b3bd10-75df-4c69-8be8-40669f693f6d phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:99b8a67d-b0eb-4339-9be3-d63d5b7e6d37 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:98a9522a-cbab-4c39-90a2-47d3c95569ea phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:25e14a2c-977b-4cea-a672-3959e8f2f80d phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:eb55221f-d363-4bbd-8ad4-0cbfb08e7255 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:b663e1e4-7cc9-46cf-9a77-215c6212d9b3 phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:d49cc5a6-69b8-4c35-9cbe-8804ad031bbe phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:9d81e425-0c49-4ea9-8b4f-6073894c626a phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:d3bd812a-f405-4586-90fe-e22c624c53ad phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:97c9fae8-cdde-4f86-ba4e-f4a342821f9b phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:8253c1d4-6103-4d45-a223-f9697a862e4a phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:9bc2f44c-de2e-43f6-b6a9-e5efd0583ba7 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:e61c2c80-7849-427f-a264-3ca8feae3bcb phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:80e85b79-c714-4869-b2a4-165604260a70 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:3735cd79-d4ca-4e70-8ec7-a0744dac1306 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a06f770b-4c7a-4f82-9d10-6a4c744a3589 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3b170513-8177-4c79-918c-58cc258b79f2 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:bbecb8d8-cdff-4910-8554-a11162cdedb3 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:53a67fd9-fabe-4f5a-a441-f4466afaaa71 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a5e51187-0b8f-473e-88c8-aae5d5a26974 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e87df7df-5dcb-47d3-b1f5-ffbe160c38b4 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c76ba083-3c4f-4f0b-9f05-4e4671a657ec phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1a652186-1a6d-4624-83b4-ea406c08e3c7 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3f25adb7-013d-4cd1-980d-3d0b1154dcbf phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:db5e0928-a120-4635-92dc-ae0a4e4f751a phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:37d45169-8c3f-47c2-8088-4feedc83cdf5 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:97dccdbb-db57-48ac-b772-dfcfb3a78e91 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:2b73b14e-9baa-4629-b1eb-b4706703ae18 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e535e883-6b51-4a37-97d3-5b3c82211e44 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:26d91b52-953c-4842-b104-ee41eabe928c phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:032700ab-4b86-4c79-80c7-d29a0f04f124 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8ad4a317-c633-4af3-b117-c66b80a83a5d phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a9f18278-7255-4daa-81fe-f0a5f50356c7 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:89e02966-9298-48c5-874a-64c3f33b8345 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:64287dcb-599d-46d3-a784-ac5555e73069 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:21979f02-01e8-4619-9af2-29fbdf010c50 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:07200329-6f33-4772-aaf0-f3b5bd5a6104 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:8b8b5f0e-214e-4937-bc03-3df9cbd1ca32 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d9bb484a-9240-4403-b48f-c308d81b5133 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c962485d-db58-4478-be7e-f62054cc880e phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:664ba424-9056-4047-987b-3bce497134f4 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:45ce9329-8529-4f7a-85d6-33c36b3dddea phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:be2fd390-7355-416c-ad5d-d9a9474ed19a phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c22172a5-a11e-4544-bd07-935e6c13a7bb phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:121abeee-d1e3-447c-8180-d381ca5a1876 phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3d44c1ad-e21d-4502-9dbb-e5a3dd46ea6b phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:e4e937a2-9b07-4570-98c8-b414c5540bac phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:49055703-67d8-4a9a-a2f3-f5b4db80622b phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:938aff68-e95d-4e42-9fa4-62a79237b5f7 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:61f6a119-7988-4486-9828-d02c5c8a0a3f phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6d1a4afb-b12d-4121-b2a5-0426d85ec695 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:16a8f65c-a36f-48ea-ac4e-d1fcbedbf773 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:62313d02-b3b1-4d99-be71-9f7fe59636d5 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:f5beb9ec-1e49-4125-adce-9636b1b088cc phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:b0dd587f-fe58-4398-9ae7-17b16441d921 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:000e0f39-fb63-46fa-978b-bc091f59b052 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:a5521b49-d012-4512-936c-2b09c6728789 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:39159fb3-f500-4a94-af57-2be91e3dddae phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37075751 uuid:6d19b629-09f0-42ff-bd49-4cd5bcc7c304 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f22ea0d0-1ee4-4c8e-b6ff-7b011d69733a phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:df280b4b-2c50-40ab-986b-b46a52a3bad5 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1a160164-a483-4d3f-a8dc-2d58271cd510 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f1f759a3-ea24-40c6-ba89-2d0f7a587614 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:44049046-5553-4466-aac6-089c69b21230 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9256a66a-b1e2-418e-80bc-30baf2f3a368 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9e29e11d-e2aa-444f-bc85-2a98c6ccb7e3 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:acf00017-5d27-4719-8f82-d1753813ecc3 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:35a4f1f7-aa0b-4369-9112-44c99cc4b1e3 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:d234d7cb-31ae-434e-abc7-e935e691a586 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4b95bf06-19e3-4abe-b223-9919ce2d8fa0 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c3b76d27-a03f-4906-a27d-16bb7be65728 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:96edbf57-b297-47ce-b351-5738d6982554 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:e705f42f-9d11-46ba-af9b-553b75f3666c phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:ef284e0c-3a6b-4af0-9c69-09d23188f610 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:326e3f66-7fb2-4f48-bfbc-617a9f20cf20 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:f05ca590-bdc7-4955-afdd-1fc0cc7996ac phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0009921 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:1c3c9c52-279b-4f19-95fe-2a6609c250a7 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b562d6aa-18c9-4e5a-bbb1-fd951864f404 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:5c15fad4-8aec-49d9-a3db-b84b33a6a7ad phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:c2a3fe4c-5ae0-41da-8042-ac312464aca3 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:214c83c2-7197-4922-be41-30161b8da0f4 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b114e738-831e-4022-841a-cb344801857a phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:11f0174f-f55f-4056-84a3-1792410706ad phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4528d3bb-af5e-4dec-855d-ba2e7bac710b phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:a41687ed-7e0c-4e6b-846f-6792a0751d30 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:4ebd5ce5-d2d2-4b44-806e-3b3b14ffd96e phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:16dc4c49-f30c-43b9-818d-48da19b7e18d phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:3890665f-599c-4243-b06e-8dba9192a8f3 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:9011f073-25ce-4576-ba94-163231637885 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:0812b11b-fca7-4daa-acc2-39b43dd36f0b phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:b4fc6918-52b9-4953-8c78-5e1f721408b2 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37075751 uuid:56594e73-0390-42ac-8773-a2c5ca0e09b0 phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_disease OMIM:616462 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:0c7f4751-7ac8-467f-b524-58e46283eb1a phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:has_gene HGNC:17264 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37075751 uuid:efa2a152-bd92-49ef-879c-bf6ad2b547c0 phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24603435 uuid:01737eb8-79de-4488-b601-c10b273732ea phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24603435 uuid:6d71a1b1-9953-4f20-9cf6-53ae174eb682 phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24603435 uuid:a3eb7528-ba49-46a6-a7d8-90844fae854d phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24603435 uuid:6c28b6b7-fe80-4173-a91b-3d12ab96e78c phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:24603435 uuid:fcccb684-1401-4f51-9b7e-1f7f75ce12f6 phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24603435 uuid:61b38937-8cbe-4ead-85d5-2dcb2ac60523 phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24603435 uuid:c2ab1840-2f13-40d0-9467-147c0439fcca phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24603435 uuid:c07e6efc-4218-4c14-9460-cf9f44fcead4 phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24603435 uuid:30bd716a-ef54-4b9b-b277-e5745037963c phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24603435 uuid:15ae80b2-3999-4d5a-9257-a1967150829f phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:dd9084bf-c638-4b95-acaf-2bac6a8e71ee phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:d3e538e9-c91a-4817-9945-cf16de5f183d phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:ed1aad5e-3128-49c9-b501-c9409c9ba49a phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:84d7b5bb-c061-4236-9ab1-6645eb77cff4 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:d0584ebc-39bb-42ca-a682-1429eb12e2de phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:77e0281b-b95a-4d67-a282-f1ed556fddf2 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:983a272d-c6b0-4ad1-b2aa-3de3297b6992 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:653d8a21-ee21-4cd0-a6fe-8221ce5610e3 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:05027f07-ad0f-4b65-8144-5b9604711377 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:2265fb82-3664-45b1-944e-bd20881135f2 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:b29a59fc-ffa5-44bd-9895-590a855ccd69 phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:483fd3ce-0e59-4ff8-97c8-fda4509a741a phenopacket.store:POLR1D.PMID_21131976_EsM5513 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:fe54dcf1-2153-4bf3-bbbc-d443d81ff942 phenopacket.store:POLR1D.PMID_21131976_EsM5513 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:80e8897a-82e5-4f24-a19b-2b2bb2afbefe phenopacket.store:POLR1D.PMID_21131976_EsM5513 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:99520cb2-485c-40d0-81f9-cbd500047065 phenopacket.store:POLR1D.PMID_21131976_EsM5513 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:42333cd9-771d-4aed-9987-2422a50173d1 phenopacket.store:POLR1D.PMID_21131976_EsM5513 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:937ce770-f746-4edf-a256-0d98a2c50481 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:60d19202-31ee-4606-a14e-ac4bffdd6adc phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:88a2816b-62b6-467c-987a-5368b44533ed phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:33ba8117-fac7-407b-a091-4c8bfaf1d439 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:c2c69c03-4dd7-4679-9c78-ba42cc2b03b0 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:8ae7844b-4095-4fee-8b7a-ed33379a9cbb phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:113198c6-de29-48d4-a305-fb3ac3af2041 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:000d8599-ca53-4501-b07f-a17128c96b17 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:49a58ad8-80f1-4c19-9a19-e9d942030ae7 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:5ee54de4-13f8-4a19-b1ba-a9f216b1db16 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:68c1d366-b1a2-4870-af7c-0a1835afee9b phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:d1619255-b249-473b-9f1f-55c7d4902d1a phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:1551e3b8-8bf1-4d02-a2c4-05c0ba2cfb44 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:34ee0989-ddbe-4480-913f-6e2d2254f282 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:242b02e5-adc1-4885-b449-6e83447d5fa0 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:e8b44ae7-0d3a-4891-b686-bd46c43f905d phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:f51bccd5-4dba-482e-908a-c24ca1181856 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:ae15b44d-0af1-47e6-99ae-91caa654fa89 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:d28087fd-67a8-4989-9a9e-4d8e57af82a6 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:867bc8dc-0d89-4248-a5b1-7751373641dd phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:366037ac-8c33-4a94-bfbc-764f1843a60e phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:e44160e6-42b0-4a45-9a31-21669f17e472 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:6e935d4c-bcee-476a-8588-b0aaaa7c1282 phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:3bdf3efd-692d-421a-99b2-2006089b8a5b phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:0e43029a-d7e3-4674-9c15-d2f43521db4a phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:3a9f316a-7acd-4512-af24-9996a5b833e2 phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:0fed5b53-4b4b-4799-a9ff-25a36f5601c9 phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:7c6f9f8d-e75c-446f-a6b3-6a89f39f6797 phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:db298bdc-9e7a-432d-ba1e-66b9dd0cd27b phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:2fb1b379-c1db-4c4b-a9b5-0c1daf78b4ec phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:176b8875-d7b2-4ae2-ade5-51d38d21ae4b phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:6af8e622-cea6-42e0-a8d0-baec3385f934 phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:8dad036b-0357-4ac0-852c-ef6a634dddd3 phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:ef8caf85-9860-432b-8cbc-35971f2c2c5c phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:306841c1-08c3-4ed6-ba65-481c245c682c phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:01cd570c-141b-4f83-a96c-7de1fff565c4 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:0ff2f4e7-904b-4c49-a42f-6efbc7b8f93b phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:2ca2673b-73cf-465c-bd41-c509916890c5 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:913c74e4-d055-459f-a433-7e1af246d258 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:fe4ee57e-ed60-44b2-9400-d8d88ce76e12 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:e95efb31-ae0a-44c7-8257-df80ced27107 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:ebe0f26b-dbc9-4d2b-89f9-43fd184f8638 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:74319df6-f796-4e9c-a8af-863da85994a9 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:645b5da0-ef90-41c4-96ab-e84e35fbe8fa phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:b7c106cb-f555-4daa-a9fa-b22a9a9f82cd phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:95dceddf-abf0-401c-833d-3ad579f70399 phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:b4005416-6204-4b9e-8734-48c9305a3fc6 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:c5d202e9-3196-46f7-bd7e-f9a44a8055ec phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:ac042945-f87f-4454-ae7d-a3df143cc5f7 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:bda543b7-f3c7-4278-8c87-e27a18205f97 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:23bf0b5c-37d5-41e5-85e4-43681bd033f6 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:249b5a97-2409-4993-9bd6-94ecd2b3bd79 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:f75ef68a-2085-4d98-a89b-e0b71b969f8b phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:01acb7c4-6d25-48bd-9662-816a2a639990 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:d22d525e-2ac7-4ea6-ba33-18d0dca7830c phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:42bdb922-4fda-4fd7-819a-543d72785882 phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:6f43a1e2-323b-4f6f-b5b1-07910cc05c97 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:fbe183ab-c5b3-416a-9904-c386b0b22911 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:02947d9d-8a47-40e1-9e15-f88e0cb6ead0 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:4c032a3c-58f3-459d-88de-af6a201c54e5 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:86cfbfd6-0ac9-47f6-ad8f-636160627ea7 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:ee72d0a7-d48e-4806-901b-44da651e399c phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:156153c6-0a3f-4a90-831b-b17b3d7c38f2 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:69bc2493-194c-4033-ae11-ad2f455a7754 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:e156f6c1-9cce-433f-a890-91354f439392 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:8dc8c8e7-697a-4dcc-af2c-9dae169e2a20 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:c9e33a39-6250-433c-9712-c925e867c924 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:103d6690-445c-44eb-9844-27d16eb56998 phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:d5c47f19-1b5d-4d68-827f-fd2b7d1465b2 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:4011c956-f1a6-4a56-aa86-6ddc4ca3b1a6 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:40b01cea-ef06-482d-b02e-e950cfbaf6f8 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:a0881fa9-b98e-47bc-8f76-111b1cdd12bd phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0010669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21131976 uuid:0e631243-6233-4ce5-88fe-2573232308ff phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:919dead8-5d49-494e-a322-57a9b6a2f1e5 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:3e641e57-81fa-45d1-a0a9-836ecce4b1ec phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:123fed80-41d0-4099-ab9e-b4129aaf41d8 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:a91b8347-0669-4cdc-acf6-b7c4610ee3c0 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21131976 uuid:949eb401-7a65-40da-b087-2d47380b9c11 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_disease OMIM:613717 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:4ae61a17-e041-4a33-b73c-5ad1ba625fb5 phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:has_gene HGNC:20422 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21131976 uuid:18dabb7e-66e1-4784-b556-830d8d20aca9 phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:29940c30-472d-4275-87e8-b784f494f6ee phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:37e02c6a-7432-4623-9d4b-90133cf4c21b phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:09f73182-8101-4789-99e5-e4c71ebe4ef6 phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_phenotype HP:0030527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:e9eac51f-68f6-4625-bd8c-4defb13eb3ee phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:209009f2-92c3-4a03-95d2-06def3093283 phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:c6ff4e24-e82f-4c24-bfa6-21a1499718e8 phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_disease OMIM:617123 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26908613 uuid:37eec2d3-ce57-4d35-b6c9-9e06c8e3208d phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:has_gene HGNC:19139 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26908613 uuid:554d4367-d38d-42f7-9609-ab41aacaad0b phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0500087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:92e4b772-2115-4dca-affb-745ecb3c9fb7 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:781d7c1e-1060-455e-bb44-aed690329cfd phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:7a411e37-1a5a-418b-8ecf-403208acd486 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:eaca0197-afb1-4113-ae00-09edd5ead17b phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:8daf4acc-06dc-4c06-a8ec-09f46e26ac02 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:4a25e33d-e83a-421a-8f81-514e18ad6db2 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:5fdedbd5-76bc-4d32-ac53-c2c7fbfee8b2 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0030527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:81712ade-a4cc-469e-8502-7387b299883d phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:74598c0f-7dfd-4f63-b68a-faf8589c6a19 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_disease OMIM:617123 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:26908613 uuid:9d67dd6c-068c-4355-a4ef-e1f213696341 phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:has_gene HGNC:19139 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26908613 uuid:a49406bb-4b91-4bb9-b179-1554f02919b6 phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:d550a0f8-8ff9-4177-bc45-0958a3ad42c1 phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:36f01b34-17e0-4362-9912-d2bca12c5701 phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:7efe5f9a-0367-44cb-bee9-fc878d61d88c phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:ae9e6f4e-a767-48c1-8060-1887a6319e25 phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:cd49987e-47ef-4688-88b4-ac2dce22095d phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:f80c553a-a8b0-4e2c-a123-aade845dedcc phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:70d95d54-9daf-469e-8899-b413b0984e18 phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_phenotype HP:0030629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:e5d2f586-75de-4b49-ae68-8b997057dbb5 phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_disease OMIM:617123 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26908613 uuid:1cae1b7a-ee93-4415-87e9-448f7d1db5ff phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:has_gene HGNC:19139 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26908613 uuid:f4dead16-ed2e-441b-9be8-46294d4b7d7a phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_phenotype HP:0500087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:927c1928-2bd8-4fa7-927b-7ba60123bdb0 phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:3c3bc265-626c-4552-a795-988c3bf961e5 phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:06753957-20c2-40d1-a8e3-eaaecf729980 phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_phenotype HP:0030527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:11646dad-c59d-4fa0-bb62-8f99545ef0e9 phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26908613 uuid:6f9125d7-03b7-48be-89b1-e3562ceb699b phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_disease OMIM:617123 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:26908613 uuid:55c10df4-7577-46bc-848a-61701bac5928 phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:has_gene HGNC:19139 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26908613 uuid:3fcc5b0c-52df-4aba-9865-71af7efe9a92 phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0031413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:7983a8ab-8ea3-4be5-a01a-75f3abcfd532 phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0045051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:0751d0e5-f440-4516-a44f-1a8486b20e07 phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0031950 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:8993df0c-071b-448d-81bc-b7adc6a2b883 phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0002206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:03dd458f-0b57-4f43-b313-33dba99a06ee phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0031996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:50929d59-cf64-44eb-bc2c-7a6f9e2c2bdf phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:83716b02-50e4-4363-a70d-23e5dcc21e46 phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0002875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:415cca7d-ae2d-4fd5-b6bd-2594b05d503e phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_phenotype HP:0031246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:35420632 uuid:c5650c97-5077-4ad3-a30f-0abe6c8b33ac phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_disease OMIM:620367 biolink:CaseToDiseaseAssociation manual_agent observation P52Y infores:phenopacket-store PMID:35420632 uuid:f09881ac-025d-4aee-9916-29056c6218ca phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:has_gene HGNC:17284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35420632 uuid:b16d44b9-259c-46a3-81cc-27873c05ac49 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0031413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:35420632 uuid:091f1d3e-a8e9-44a5-a55f-a09b5dc9ed8f phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0045051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:35420632 uuid:912b9eac-a4a5-49ad-8b8b-9e57f7f367d8 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0031950 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:35420632 uuid:e58dd19c-0e1e-4857-a60e-1ac44b2fe913 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0002206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:35420632 uuid:2e9536a2-7d3f-4239-abb7-37241f77f21d phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:35420632 uuid:0274ef72-7ca8-46e7-8b2c-49362b366f49 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:35420632 uuid:ddce71d4-b09a-4db2-8ae4-a86f60eb8b84 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0002875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35420632 uuid:d47405a7-2a3a-4718-afec-8b73700a9811 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35420632 uuid:be40e7d2-c8c3-4fe8-b536-cb54acc77e32 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0031996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35420632 uuid:a59ecdee-498e-419f-885b-e1727a9352b1 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35420632 uuid:ad37a964-4f8a-4193-9727-1494b8a24624 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_disease OMIM:620367 biolink:CaseToDiseaseAssociation manual_agent observation P72Y infores:phenopacket-store PMID:35420632 uuid:b4a21e28-42f6-4c56-b01e-f469ea9ac0a5 phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:has_gene HGNC:17284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35420632 uuid:fdad5e81-7762-4c33-9dd8-9c04bc45cb35 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0001399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:a18f7cbf-0f3a-45dd-936f-1eae327b132c phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0031413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:f3d19326-7ecb-4516-a49d-d989fddc2336 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0045051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:7c0299ec-be8a-443a-aafd-522e96d2d2d3 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0031950 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:b5843b0e-ea03-475f-8af9-38149198cf54 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0002206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:8162d358-3993-4d94-8105-9d5a625a125a phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0031996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:f195f55f-0e59-4399-8884-9f66c86c8059 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:35420632 uuid:dc40bf87-d92e-4b3a-b2eb-1fb971db3767 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0011954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35420632 uuid:bc8a90bf-e6d5-4f2d-96ef-9c9f1c84609c phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0030169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35420632 uuid:3a7b1031-660f-440e-b991-3482420cc615 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0002040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35420632 uuid:4bb6c6f6-c4b5-4aa2-b5db-833e1282cbf9 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35420632 uuid:484128c2-eb5c-49b6-addc-0874c7e61b83 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0001409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35420632 uuid:b84887ad-9af4-4609-b8c4-f08bb025059c phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35420632 uuid:c77ce7bc-0f67-49fb-a3a3-45fad8fc42c2 phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_disease OMIM:620367 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:35420632 uuid:71c93955-9322-41ba-b72f-a07d9db9799c phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:has_gene HGNC:17284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35420632 uuid:970f9bf3-b08a-45d3-887e-bb1d43fb1e78 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0031413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:35420632 uuid:8f8b0738-3e52-48bb-9069-8d869917d8cf phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0045051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:35420632 uuid:73c8073d-c622-4848-919e-dc86c0f09aaa phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0031950 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:35420632 uuid:6dda57c1-99bf-4043-abb6-c3cd789543b7 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0002206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:35420632 uuid:ba45c691-9430-4212-b8bc-b5bb8176c391 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0031996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:35420632 uuid:3d46eac1-66c6-4103-a360-07706d151444 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:35420632 uuid:1a64e034-5757-4ad0-9824-1734a360abe6 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0002875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35420632 uuid:384a5894-a330-46d7-abc0-4fa4458fa353 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:35420632 uuid:c67de77e-9e32-4f58-a1b6-2c07e0b3b152 phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_disease OMIM:620367 biolink:CaseToDiseaseAssociation manual_agent observation P57Y infores:phenopacket-store PMID:35420632 uuid:d3743044-b130-403b-943a-b76ce87510ea phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:has_gene HGNC:17284 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35420632 uuid:785d627b-1311-4554-9c98-3130ef5c39aa phenopacket.store:PPIB.PMID_19781681_Proband_P1_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:9165431d-b214-4f7e-937e-687a16a662fe phenopacket.store:PPIB.PMID_19781681_Proband_P1_2 biolink:has_phenotype HP:0003023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:33603108-b723-46e4-b769-06fc724bede9 phenopacket.store:PPIB.PMID_19781681_Proband_P1_2 biolink:has_phenotype HP:0005855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:95f1972c-fee4-48a0-9ff2-9b8121093d6d phenopacket.store:PPIB.PMID_19781681_Proband_P1_2 biolink:has_disease OMIM:259440 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:fae9dc45-1785-40bb-82e5-e5f0a1c69423 phenopacket.store:PPIB.PMID_19781681_Proband_P1_2 biolink:has_gene HGNC:9255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:2f708869-5a71-4534-a8f7-900e714f1f0f phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:19781681 uuid:9bcdd9bf-7862-46f6-9a93-c5abb44fdfbb phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0003023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:0556a8d5-0608-4c19-b3a8-f314563b7553 phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:9d2e4cb9-ec8c-4a55-9db8-fc4917760a83 phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0005855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:d8341361-7f00-4855-8e43-bc3920ffcdbf phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:07beca28-6a92-466e-8dc2-a482115f4074 phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19781681 uuid:834256fa-a025-4990-a459-42651c1774da phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19781681 uuid:4b8edaec-27ea-45da-a595-63af9114df2c phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19781681 uuid:9e412059-268a-410f-9587-70bd24c49282 phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_disease OMIM:259440 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:19fd1521-0fc5-4c4f-98c8-b11916abfbca phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:has_gene HGNC:9255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:7e1a431d-de19-4372-b3b1-7588e788b71f phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y4M infores:phenopacket-store PMID:20089953 uuid:67b4f9d5-c814-4916-a9eb-2a8f9185ea3d phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:d8764c91-b85c-4937-8788-d36a7e580f3c phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:a61fedf5-9dc4-4d3c-aa7e-951ce78eb880 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:382b39a7-0317-4096-99e2-7dfb5406f3ee phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:20089953 uuid:4626fe18-147b-4c25-838f-e2a86b36b45a phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:20089953 uuid:417d4566-5d76-46b7-a243-db1cb35cc794 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0005019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:20089953 uuid:6134f651-228f-46c3-a523-83c1b2e9b6d2 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0006487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:20089953 uuid:59a61c63-afe5-47fa-9d59-f51a299f24ea phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0005855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:273d6dd2-3bdc-449e-a54c-15c4e79e5279 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:c1b12822-a906-4d3c-a2e4-32a5df98595f phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:bceab208-4b72-452d-8d74-c2dad1dcc0b0 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:bf8844e0-cf4c-4f1c-aae3-84eace32c9d1 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0002953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:d760b5a0-a613-4b3b-9ea7-92487ae6450f phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20089953 uuid:3f820cb4-bf1d-4475-849a-ef3c080ec6ba phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20089953 uuid:78ed5e26-30b4-4eae-9b1f-5d8aededdd49 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_disease OMIM:259440 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20089953 uuid:9df01cd7-d958-4271-8277-61ed1e1ac67f phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:has_gene HGNC:9255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20089953 uuid:eef48524-eff0-479e-b92e-1468e141eb42 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:19781681 uuid:dcca58ae-160d-491f-b721-aa76c1a5517d phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:19781681 uuid:4df9a729-89e4-4f9d-8066-24751b6438d5 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:19781681 uuid:28929875-d9e0-4b31-aaf4-aa16e14ad489 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0003023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:9e90db91-dbb1-49f4-9225-4392fd6c9c19 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:f4b1f811-07ce-4268-98f7-7d9544214f28 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:275ce2bf-051b-4177-ae72-891aa7edf14a phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:5589e766-51c0-4dff-af2b-1f4414fc5707 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0006094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:2377cd76-58b9-4507-b628-212760d11eb4 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0005855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:98eef227-c313-4727-a1da-a95a0a4bdb14 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19781681 uuid:bb2da2a4-e85a-4f8e-a4b8-5d0c39304690 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:19781681 uuid:dc59ff25-3c4a-486a-a8ad-ed339059e675 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:621cf5a8-3c2c-408f-88fa-ae3210a1c8f3 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:19781681 uuid:31403dd7-89b0-4298-9552-403eafb3b4f0 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:dd83375c-5a1a-4c28-9fa8-14fd5dbada30 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19781681 uuid:9c2226ee-8a64-47f6-b6ed-b31356347aa8 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19781681 uuid:42aa27ee-bdce-4e69-b69b-bbbffc7eb9a4 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19781681 uuid:bf748050-7361-4266-9a6f-dcad9a014801 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_disease OMIM:259440 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:60f79e1b-5342-4888-828f-1cefd9d79dd8 phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:has_gene HGNC:9255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:6237c98b-7a40-456a-aaba-72faa83256f8 phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:20089953 uuid:38ba1042-950e-49c6-a068-4fcc339e056e phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:5c17e2a9-8367-4626-a686-fc6cbe4e73fc phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:20089953 uuid:1bcb1f58-ed55-4f31-8aec-2433805a22fa phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:5d05a3e1-893b-4ed0-aa71-09b9531b2b6e phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:d75ab2ea-3104-4401-9898-ca319f07d321 phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0005019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:e8720587-6480-4225-917f-dc7c1a2f60c5 phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:9795c1f4-8002-4005-be2a-502f0b3d80ed phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20089953 uuid:9845bfa8-36b0-41ce-b0ce-ada55bc03aef phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0005855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20089953 uuid:f00008aa-3aac-410b-b71f-456b79875aaf phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20089953 uuid:5ec9e1d4-cfed-41ce-828d-071f7d4af21a phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_phenotype HP:0002953 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20089953 uuid:1e0ea057-95ae-4e92-8e21-3fe8bc23c523 phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_disease OMIM:259440 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:20089953 uuid:e32a7a7d-0ca8-423e-9c64-9d5552dcd998 phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:has_gene HGNC:9255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20089953 uuid:cbc3c786-7f85-4a86-bbb9-688edb26b6fd phenopacket.store:PPIB.PMID_19781681_Proband_P1_1 biolink:has_phenotype HP:0003023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:f4291684-acc9-4290-8a61-231b4e0a607f phenopacket.store:PPIB.PMID_19781681_Proband_P1_1 biolink:has_phenotype HP:0005855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19781681 uuid:be236d0c-b6cb-40a9-970c-fa69c727a1c7 phenopacket.store:PPIB.PMID_19781681_Proband_P1_1 biolink:has_disease OMIM:259440 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:ecf76ab2-cf12-45b7-be33-902cd4464dbf phenopacket.store:PPIB.PMID_19781681_Proband_P1_1 biolink:has_gene HGNC:9255 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19781681 uuid:51dc404f-980a-455c-a4f1-0c0ad89ac304 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:28069640 uuid:8e01c974-3431-47b4-b9dd-a0c46f214ba6 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:fe7205be-f657-4e7d-b4c2-5e1b0b9bbdfa phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:f5cba75a-6b48-4a7b-ab5e-c21b8173be34 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:9c8f4a65-2af8-4aec-bf6b-f94c185a4010 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:98b22685-ba69-40dd-9ca5-da406729ce1e phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:7358ddbe-bae6-43ce-88c5-373990685257 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:ef120f84-419f-4302-ae6b-29654e5a917f phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:b3435b8b-885f-4cff-a41a-0f55d8cce678 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:0695aa8e-4d4f-46a6-b8ce-c50046ab5bb3 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:b4f85c2e-8def-445b-ae97-d22f8f58a4f8 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:f7fb7c21-76cc-4323-84ec-916354b1c8bd phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:1c2fc102-6f2a-49f5-98ba-18050c551aa6 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:9e41bd13-cc19-46c9-9932-d6f3da0282aa phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:ae00617f-76ca-414e-9a10-170cc67b04f0 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:b9081fbe-6df2-4add-92ee-01fb443dae08 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:39e8b79c-dc3d-4249-a265-9081237cd6bc phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:aba8eef4-a2f8-44aa-a43d-47729511f216 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:ffabb25b-fab9-488c-b0c7-e64a913fecd4 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:ad52aacb-212a-4271-8af8-669eb15e4937 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:1a937f2b-0261-4ec2-896c-163dd91ff2f8 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:d5644e08-653d-4c1b-9c84-4d2e75f1a5e2 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:e30f2c34-4979-4d44-9327-d5e4bd8c912b phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:9947bf58-1d2a-4995-9395-d7adb1d7f3a4 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:1f7024f8-7deb-41f6-8ac9-91eef90621a2 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:f5eb12ee-bb68-44fb-a21f-1c5c6db03e68 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:134012b4-37d2-42ed-bf72-cc837a0fdc47 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:28069640 uuid:eb3cb111-e4e0-4f9b-8d22-2aa14a81e5b8 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28069640 uuid:7a343ca0-4c14-4739-925c-024810322624 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:32666529 uuid:3de8f657-a043-4405-bbb3-840189ea9a0b phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:baa82f03-883e-45af-a1f0-bd34601f7874 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:1b3a19ac-7edb-4cd2-9dc2-6128cae84e52 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:6a7ac113-154e-4db5-b2d8-8db4cce5d91b phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:f2f9aaad-c6c7-4fba-8fd1-1db792838442 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:d6cce630-385a-4bc5-af8a-6af67b1ca921 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:afd0eb1b-0fc3-48b7-a356-0310f36d5d0c phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:675fa05c-19f2-488d-b1c3-32cdf1795762 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:692644d9-531c-4a18-bf1f-8ac7a91c209a phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:79b4a100-cede-4f1d-b1fe-5ba4f65caff4 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:f5f19b9d-32a9-4dd7-82af-c0edc2cdca8b phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:4f371c19-8d16-48a1-acd3-3f128e501b97 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:2044eda2-ed79-4411-a718-673e8c548265 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:20417248-5eaf-4e1e-bc61-2c38af0f21f0 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:84c61695-998a-4603-95c4-71fe85270908 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:faa89f97-031f-4daf-a3b4-38d3dbb033b8 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:199625f7-d355-4b03-bcbe-2cf9d539ccc3 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:a78200e1-6bc2-4788-8b0f-b82cef500bdf phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:89c79cf5-ee80-4e9e-a050-7aeefc05fc4a phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1c33986d-e5a8-43cb-9784-aae1a1b3ba7c phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:f1b3d555-7280-439d-9f4a-4cc061e3b261 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:3425261f-d753-4f15-8dbe-1e605bc6e27d phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:ed03612a-df2c-4be0-9e0e-81fb7ae864f9 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:32666529 uuid:44e22198-2d8f-44a2-8cea-0b7c6af74cdc phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:787b0039-186c-4e85-8f60-55570e8113b2 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28069640 uuid:48177d6f-48bb-44ab-81fd-e397d14af9ea phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:eef9dbd7-dde3-43ac-b720-857c059ff681 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:2d5c01ef-1412-44c9-98c4-7ab9d324a599 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:b23e0730-9ef7-40e8-bdd3-00ea2ca849c2 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:47cafc67-4d8b-4cb0-b87d-6f164b9ad732 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:1fa5c796-631f-43d1-b262-3c4e323a5aaa phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:afb8a7fe-02aa-4393-931a-dc0bbaae3e6b phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:0fbe4df0-bf0f-4be8-8946-daac5e1545b7 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:ff1da228-f6cc-4af3-b344-bcc9542a2be9 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:e95b04ad-8a25-423e-a7ff-24ae06178460 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:e04c5e65-fa34-4684-a554-10885c1276e1 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:37b3304b-9bf4-405f-9b05-b2a5178074a3 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:fbb647d0-6b1a-4618-bdba-d6078b38f7af phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:af3a78c6-78b8-4e1f-b2f4-25a15b9249ae phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:36a88bad-6e82-4070-95a6-482c0c13d470 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:8e5dea78-e83d-41ce-a283-55d282ed317c phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:a7208c86-2094-4cdc-ab02-5104f49c188f phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:6642f978-6479-4a24-9632-34da3cec3522 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:0cf0b529-9efb-416c-9495-8f84968b8e5a phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:b5b134b8-3236-43eb-b51a-7894c4746329 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:19b36c91-5e6f-42cd-bc24-8924c6b4f528 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:57c7b9f1-67d6-40a0-859d-b447d0861dc4 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:639e5034-e4eb-4bad-b4e5-a5c6a3959c01 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:179469b2-065b-4758-8d0e-89138de87260 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:7ee32d88-871e-4375-bd53-43cbf8183a75 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:967df846-1988-426f-9a34-112b9c5de2ad phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28069640 uuid:3e04ed3a-c748-42be-8a3f-7a52e9087492 phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28069640 uuid:753ff4f2-8eb8-453a-b5b9-d2906a15335f phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:35924320 uuid:d847266c-e2b5-48e5-9f98-271afc42e324 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35924320 uuid:3b675c34-1940-4016-9173-77046d99bdee phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35924320 uuid:7830e3e9-c1e9-438c-a321-2d93da81663d phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35924320 uuid:de3cf607-7ff7-4c8c-b23e-53c3f36c2d62 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35924320 uuid:9ce7d91c-3222-4091-9202-4c6eb9dc9e17 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35924320 uuid:f3a0a3b8-fab4-42ac-83a6-05f2cc83485f phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0012413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35924320 uuid:5f48150a-c158-4820-9af8-8e1f7bb4bb47 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:283ea1fd-8f04-4255-ace7-d1afb07a9f0d phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:38420d39-dd97-4487-b861-d8804ac7c817 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:acb63bd6-99cb-4164-a0dd-30c70cb892a6 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:203e79be-b54d-42d1-8e02-9ae575960dfc phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:63ce450f-ab7a-4cb0-908d-608d1243d844 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:d9b04c77-9257-4c1d-935f-79710fbab26e phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:0647f3b0-3a94-4f4e-8edb-bd63fe77da20 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:12a541b4-423e-4e40-8d8a-1e612a1a264d phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:01a5a22f-aa83-4657-86c1-258308895890 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:b0abda2a-2bb6-4e8d-a099-1d2f544f0374 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:d2bfc396-ea20-4c24-a3ec-d6e63332a019 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:8130dd27-61dc-4e87-8e09-e49604ef2b6b phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:9fee0f99-6e71-4fe7-a63a-d19ecae4d11f phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:51ca8070-4577-4f50-9a98-d195aaec1658 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:eabf545a-d89b-42f7-8768-b42e30869997 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:39d77ad4-1178-4eeb-b1b4-e100e6fb3e11 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:8b05dd9c-2e84-49bb-b77d-e2f1ed4bd546 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:834b393c-6b02-4847-95a7-a63ee7d27341 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:f1ce2fc5-a8f6-4f05-bf42-c71645934ec6 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35924320 uuid:d645643f-87e7-40e5-8f48-21a9e33e770a phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P2Y10M infores:phenopacket-store PMID:35924320 uuid:95b76c90-d00b-4c3a-ba8f-980194cea585 phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35924320 uuid:31b1c92d-944d-4122-9c11-8aa0efe46bc4 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:28069640 uuid:c18a44f0-531c-49a5-8a31-67e0dc935e43 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:a6b04eb5-906b-46ae-9de9-70eafdaac06b phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:ec0f9876-0ded-440e-afe3-b4f4975b084f phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:458fcd50-5320-4ab4-85e4-e3a879b753d3 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:996cf42c-4fb6-4bf7-832f-6f34dd40d5a0 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:29be3f63-ef28-4b82-908e-bae0783f248f phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:16b4a29e-7673-45aa-8230-1b82557e8c52 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:00f8f7c8-609d-4a53-8f60-e3c90a61686e phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:49cac437-92c9-44e5-8286-fc376798c651 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:bf63a2f3-3d52-4734-aa28-2b7b277f478e phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:3ae242fc-f366-4dbd-aab0-c952a4c2aec2 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:8ae8cf3f-891d-4018-b2ab-014259b1fe85 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:ea85026b-985a-4590-81f1-be4d43e7d3a1 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:d47c9cd0-a9f9-4c19-bb40-698fe10e2050 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:be217209-aba9-4a7a-b8aa-5409d6d91bc4 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:28069640 uuid:452d611b-9d0b-45cb-a934-0752a823037f phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28069640 uuid:0d2753bf-57d9-4e32-a07c-a473b08aa117 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:28069640 uuid:652c34f0-3a44-4584-9893-76c8171dae64 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:c1528579-652e-4b7b-b260-46b7f76c23d0 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:b4aaeef7-8f4d-4120-8372-cf90b63d84e0 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:d74c48d1-5d79-4a9a-829d-3c757da4c98d phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:c9ffb474-1d6b-4512-9307-063d5eab3766 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:4fec35fa-b7ed-4518-b96e-bc78f34d53b2 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:5c55c6f4-8696-4cbd-8425-67e849dbf1cb phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:9eaeb838-6f97-4e11-9967-58d56083944d phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:d633924a-b10b-48da-9590-5a23b300f9ac phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:e212d4c0-1c78-4a3a-8c51-cf92873521cf phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:bf803676-6976-4263-b369-bb14b76fa00d phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:45e880cc-07a7-4a7a-8a04-82dd7c50e640 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:f8e06875-0db3-41ae-90c2-36191ea8ca5b phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:371e3531-dc05-43a7-8551-59a07b17c0a6 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:79bfe456-e243-465a-9718-5e5028d957e8 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:28069640 uuid:ea1146d4-090d-4cb3-bb68-e4dc2b37e3e3 phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28069640 uuid:e86ad89f-a23c-4131-b6fc-74da13f4b8cc phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y7M infores:phenopacket-store PMID:32666529 uuid:a50a6937-e5c3-46b3-a6f3-9ad6e100e588 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:d68282ce-5b48-44df-8858-cef478436ca6 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:5af28d38-9836-49b9-ab43-18c924f88ee3 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:c8a0402a-415d-4ee2-8b87-b945fd5653f8 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e2363a9a-99f7-4e7b-a349-2402cbcdfd29 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:60bbe93c-e80d-4ef7-9cf3-a4d11d154e63 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:0af72d50-8f52-43ab-8f74-20a1b868f266 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:2c92476d-f4b6-4401-9ad0-4ce02ac8e51d phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1b2706d7-48ed-4f21-bb9e-aee6e7342441 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:2284e62b-5904-42ac-88f3-73c4c950d4d9 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:cd3ee3c7-2afe-48a7-b89d-f0ed584cad45 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:5c67c67f-01f3-4867-b728-554f0b454452 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e8cb680a-3a63-4d73-99ea-1ecb1abb2c43 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:4b5af54b-50cb-4454-8ceb-48a119dd8f21 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:4c7d9952-ec9a-49da-a747-ce0d273727bc phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:c71e9d12-d903-4e92-8736-74be9449c596 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:b6870aa0-c878-4223-aa81-844201604a99 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:bf0fc4c7-a6e2-4496-9f5e-e888db1e6c6d phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:337cb633-58ac-43c0-bd89-81380d3b5899 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:5e1ad612-eaa4-41db-9e44-a10f215e30e9 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:ba36003d-07dc-4ceb-acec-236bba84281d phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:0503a4dc-401d-448f-9525-f810a84c1cea phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:c7895acf-8320-4a8c-a1f1-b2d25c1fc25b phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P3Y7M infores:phenopacket-store PMID:32666529 uuid:4103b53d-c1aa-493f-beaa-e25e6596c51b phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:9ff42f43-750d-4c44-9582-d15a03b37aab phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:32666529 uuid:1856d730-a426-41a9-bf2d-708ac78b3aa1 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:353712f1-3911-4471-83f3-3622fe853f4e phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:87049a31-03a3-4325-96fa-aebb127e02a7 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:bad36cce-9bec-4e80-88cb-b5dd4fb6488d phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:5d3648fa-1265-48e6-9eac-156ff3ce85f7 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e1007947-e61d-486d-b685-ca20a3c8c025 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1d95e7e0-f80f-4945-b505-194559c0dc9b phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:894856e5-20e5-4bd1-a51f-3f2acb23b496 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:faa6f7f3-0af8-4f9c-a00e-f344de44c2a3 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:eb85b57c-f4a2-4958-b85f-12c9d3801690 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:64a805c6-3501-407b-991b-1a250f366e18 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:3a2f5045-c30b-4ee6-ab44-8e4a0b12954f phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1a9c9c2c-1186-420e-ae59-08492961fcf0 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:0844f525-c753-4bc2-9e6f-c868b4b93147 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e708cecf-0dc5-40d1-bd21-c5c1b896a068 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:6b33fdd4-d2bd-4e62-955d-73c231e359b8 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:a2f3fcf5-f333-4a4a-bc22-47965438099f phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:80e89a84-f7ab-4bac-87f2-62ac11992126 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1d6c3d75-362a-4fb2-b775-37a668979b6c phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:dc2f6023-5ccc-40cd-bd2c-43528b41e791 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:6a408804-3893-462b-b7e3-18ab19bce9b3 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:94f61955-48a7-49a5-9144-8306732be0ec phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:148ff4bf-b297-431e-b0f8-de80d20b878e phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:32666529 uuid:3e5e75c6-a747-492a-994c-c8d2249ba0f9 phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:0e0b87e7-7bbe-4559-b128-56bc182b00e5 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:32666529 uuid:bd1e349a-29bd-4c47-b4fc-f11ba8ffdb14 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:d1b1575c-9362-4e54-80fb-871e29321d7a phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:246c8b23-5234-4e3c-8849-ecae6abf843b phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:c4a06c0e-7939-499c-86e0-18460dc78414 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:b8d1ac11-dec9-4d03-b0b4-86883df91cec phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:399d7d1b-4333-47b8-b402-c61e1ed2f2b9 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:c11ac811-e632-45d1-913d-b1456d870d2a phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:49ae050e-7be5-4438-b9f6-fb92f4f07f62 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:07f386c6-63a6-43c4-a217-bf5eed4f06d8 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:2950fac1-0ac0-461d-9d39-061f63654e79 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:204d39e1-d1b2-4b33-83bd-8be7a0b1d261 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:f36ed576-f6ce-463a-9fe8-1fa6a45c408b phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:b23a67c0-1462-4ff9-8928-1fd0eee4cdd5 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e6055365-3890-4353-ba90-5e90fa75f98f phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:33968c6a-0b57-4888-aedc-39e510c964f9 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:9e9ea8d5-d86d-4560-b69f-2ca7c3918980 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:747b5751-717a-4ac4-b69c-c1e00bb70661 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:d6e1dc47-5576-46ef-a597-4ee627d61d84 phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:eddca065-1eb5-41cc-b54a-ce3e32f43daa phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:32666529 uuid:733e06e8-6b0d-4250-997b-20876f08a06f phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:21e9ee0d-0f09-424e-aa30-d73ebfc0a58e phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:32666529 uuid:c1e5716b-4f8b-45e2-9656-fbe957fc7312 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:208f76b0-b554-4bb5-936b-16bd342211ff phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:9229563f-a41c-476c-ba4e-c418ded74b11 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:3183daa6-3bff-4879-9268-fd32967a5810 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:fccd356d-59b0-4926-9ec9-45f140f0467e phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1b9f69e0-5646-4437-9848-1c23636bc636 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:52a321d7-dc0c-42b0-a35a-4e84bcd49320 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:69edc137-b236-4a47-8133-6caa04c07d5a phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:3350aa56-9cd7-412c-a69a-ed47b200228e phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:36486ef0-cb34-457d-a6f0-5c984feb8856 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:5e1a8cb1-6400-4a38-bc2f-ac9d59243221 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:3b135182-a375-4663-8407-3fc9e6daaa3a phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:6f2277ff-9fda-47fe-8671-ff0a00473391 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:f952bff7-bb98-4581-985e-3d9f3277126f phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:de3711ce-d18b-449f-a141-98d312763b5c phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:064bcf17-2a06-4a25-8d02-79adca99de13 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:fe026cbe-bfc8-469c-8bd3-056e33f34667 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:32666529 uuid:45d5b149-ab12-413d-8c09-3889e8b55bd4 phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:e1da1f35-f0ef-4bdd-80f8-85e709789438 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:28069640 uuid:0a8f1075-fbd0-4436-a4dd-42e6d7d3f4a8 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:079609d1-8f32-4091-9318-a83eaa14e653 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:cad76c23-f7d7-4949-b12b-379824175dcd phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:4091b39e-3d88-459f-a6a3-b05fec4b83a1 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:019fa743-1877-427d-87e6-df6d6a0a1ef8 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:c80aef30-c032-4130-873a-0788879a1ddd phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:3b17c68e-0bf3-402c-adf2-ea43025ed8b2 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:274ff661-4187-4646-9d4d-69bc48241d16 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:1f1d6553-5790-4913-94e1-0b009dd55de5 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:c1e372ef-2f75-40ef-af7f-2421355f7603 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:06ec62df-b238-4b91-82f9-203f9b32221a phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:2c63d40d-a6ff-4ec9-9926-274e6830e45f phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:5bb243a4-0c4f-4cdd-8891-40f12a683ede phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:4d29bc28-7d00-4c75-a770-fae9e9639a79 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:4ca5cccd-a5d8-4927-8faf-711f0ad79864 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28069640 uuid:3f857c23-0345-48e4-8678-b4c9096ea285 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:23ba2573-6a44-42c2-b22c-da0c25d44b35 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:06144d61-2b9b-4a29-ae39-bcb7dd8d3708 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:3b8f5fda-c92b-4fa5-b66a-9d3ea26f4f11 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:df53cfca-d679-4b08-b07e-4ec50844dc94 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:7b814beb-901e-484f-8dad-b858be24eb60 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:b4ad6426-48a6-4909-b33c-dd81b70585f0 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:aab5605d-0837-4f5a-8745-f8090b0a3aef phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:9ed75f79-2d96-474a-9f1f-82e4d315a295 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:d28c3240-6b4e-4399-94cb-74a7fe1c6a46 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:e71d2db1-5552-4708-b281-5be90b5b5b66 phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:682903e1-6e6b-4991-9d27-3a065fd8af3e phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28069640 uuid:4dc5f2de-2103-484f-bd88-f9b1590f637e phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:28069640 uuid:7e29f255-128c-42f0-96c3-5a0de88daeef phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28069640 uuid:dc7de8e2-78da-44e7-a720-704db472b076 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:35933355 uuid:e01b4237-a854-488e-9751-142463ad29f1 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35933355 uuid:2bed013d-53b2-4696-b835-c1e0930cd97b phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:70ed2109-56a8-423d-ab55-d000c4a54a96 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:20b03024-818a-4de6-830c-70f512ab9063 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:4164f07d-0c06-41f9-968b-f0532a2c5a73 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:649f876f-3ddc-47f0-bfa8-621252b17f7e phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:320186d1-d1d4-43ce-884a-f0f42f108cec phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:134bce19-6bd1-420e-a172-ca73eb606f1e phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:77fd31d8-01a4-4908-9b20-36e892c35e6d phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:1809a96e-079e-49f5-aa97-6777b2b3164b phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0002208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:932d5de9-8e0f-4419-bc05-72fff077566c phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:77bd1891-f9d8-40e8-b1c8-e8f495d1d095 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:1919431f-68c0-4bfb-8517-d7af7e7c9441 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:5281a2bf-5918-4d07-a04d-ba6dbed272b5 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:af3a9b1c-4e2f-42e6-bb72-5f55df9b1b4c phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:f054833c-ff13-4d92-b150-524495b3e703 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:17fb0edf-8a96-4f7f-af1b-b7b101699784 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:7ee408fd-1109-41af-b71c-6b3e3e25fa5a phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:219328a4-bf8e-4a94-93e1-ed9e48516dba phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:401091c7-14cb-454d-8194-220192ce4b27 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:50acd882-623e-4f23-8820-4453bcd0777d phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:a9b05c43-35ec-43c2-94e6-2bb4d939ea44 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:ee32a9da-d1dd-4ce7-9edf-6ef4af3f873d phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:8b989bb9-9c13-46b1-ad1f-686c5482ba32 phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:80e65069-c24e-4b62-8f33-512f9f8187ad phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:d8c2a2d1-3d28-4811-9cd6-113d9873162a phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35933355 uuid:c094bee6-a3e7-4301-89f9-1956826d216d phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:35933355 uuid:156f858d-87b6-4205-8c2f-5eb90c70148c phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35933355 uuid:086607bf-b523-4334-b7ba-c7da2b913fb9 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:32666529 uuid:211c7a6c-69fe-48b3-8f1b-755e663a1b0d phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:64e2ff0a-dcaa-46bd-9258-29b345d057fd phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:794c7447-0404-4af3-9aee-d914c9731688 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:31989090-acc4-480d-bc63-4ebb850916a5 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:9e73d2b4-7fab-473f-b7a2-93a6b7abf62a phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:fedf996e-df70-4bfc-a600-58ce1cea41c6 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:0dfff6f7-55a6-495f-94aa-cc7b890a5b16 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:40751277-218c-4111-b79d-451a385c5036 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:cfac7b0a-5f3d-4e15-b4c4-4d26486e497f phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:7abcc5c9-a4e3-4afb-b273-d9f307fdb7e0 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:19cc671c-cfa8-4c9f-a61e-e8f45a5480be phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:79f38e2e-0b91-4b4b-b4a9-fba2e3b9201c phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:220c8370-fd8c-4806-a4fc-17f120064497 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:24595355-2490-41ce-8888-6c6b48ac6024 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:cca8a673-43cb-4b89-821c-db3ddc3e39d5 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:67f3d648-b820-42fa-85c4-8292a6760902 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:fd39da57-7c52-4cdf-bc01-af125bc69281 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:4d2e35d0-7473-41e3-9d8b-8f5b434c8a7a phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:d4df8071-c8f3-4f64-8da4-19f43829afc4 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:63333656-cba6-4483-9a07-554c484e8439 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e09128a3-b151-4edd-964a-937456a9f9f5 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:a9f09c32-eb23-4dda-a2d1-f2e3da8f6f27 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:c4425ad1-0644-4cd9-8b1a-f90dfb41eb37 phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:32666529 uuid:a33dcfdb-2378-410f-b5db-56875b39830d phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:7c51b77d-773b-46a3-b8e2-9eb3d68f208e phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:32666529 uuid:c344a0b5-c26b-4a46-a04e-f77adb820b55 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0025169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:5527b1d4-01cf-4fac-bd54-35c4548bda97 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32666529 uuid:a181cd25-4833-4656-ba2d-4cfaa151cc05 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:0e6974b0-1ab9-4efe-8dda-a6a02a7d3ac8 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:a367d543-8b70-4a09-ac9b-2f6f2877bf05 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:bd69c549-ea32-4957-892e-e0418dc4e634 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:1bacb863-088b-4365-92dc-57769cddb544 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:fce2844c-df70-4f2d-9d18-b057155064c1 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:dd6d793b-3cf7-4c51-ad63-5931cb08c48c phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:0afbd340-4f56-4693-8558-f843a7fa69ec phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:e4331832-c90e-4c58-85a9-502e741798b3 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0040149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:446c060a-587b-4399-a0f5-7e53bb6fd374 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:a92167c4-10b9-4e42-a7c2-1812ea654375 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:c9808055-9d54-484c-a50f-6dd1dca3b84e phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:94ff1076-3dfa-44c9-911c-65553586beed phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:deccb614-2d5c-4906-a04b-aff0a7ceba70 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:fa047f26-c937-4157-a15c-0e7a72d7131c phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:4fde06e6-c671-43bd-9a9e-009d865f81d2 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:2c3edd9e-14e1-44c7-a41f-dac9084c5e70 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:4cc5edca-5631-419b-9bda-55728e6b90c4 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:01d3976a-dd4e-48a0-9fb3-56cdaa9a8ecc phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:d58760a7-3f49-456c-9a0f-a21f5f49f455 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_phenotype HP:0001806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32666529 uuid:64c4e931-8525-4e7d-93e9-4653d5a11309 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_disease OMIM:620519 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:32666529 uuid:9e324c6b-8969-46be-b298-b60384efb2a9 phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:has_gene HGNC:18838 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32666529 uuid:9df647c5-c674-4ae2-b407-f77cfeba55bc phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0f8c4514-0798-47ec-98f4-1e249b63d9d6 phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1d6dc1d5-2235-4c73-9b85-60007c2f9f3f phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7d94d76b-c741-49c3-bab1-171143455b49 phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:63b745af-71f2-4e1d-bbd8-83e048e67b2b phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:94c55465-138c-484a-897b-e5bc892fc2af phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:db0ba988-6ecc-4813-b65e-54419f4aff8a phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:d84a2898-20af-4965-bece-41d9e4239978 phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:892ccf99-3681-480d-8c00-25f70c775843 phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b7b5b24d-c5f8-4caf-a0ef-a94805f886f4 phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2b555d7c-7b6d-4d1a-b0e0-50391941c4e4 phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bf90809f-74c6-4ffb-a727-3be35a1563cd phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:40a21a7e-9957-4824-8f1e-c2b1f9a579ba phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dc3781a6-3fed-4773-8f66-f0e2e1d8d6ad phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9a07e3b8-89de-4ef6-bb48-98887924d8d1 phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:2ebd63d3-591c-45a0-980d-706289edb08a phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:15ba3be7-1613-4857-a5af-92892998c3b0 phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a49b3d24-12b8-4fb1-817b-5834c6cdc230 phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:feeae571-c87e-4913-b4d6-22fa3464595c phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ff1f23bd-8b47-4669-bfe7-008640ca22bf phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:51047cab-938d-4676-9f65-3cc45e3efeca phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ab84c989-16bc-4524-b1e1-ecb63c74fd47 phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:94897cc9-24b0-4138-96cf-7c0c9db6570d phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4d552ddb-328a-4e54-8c8a-e32331742788 phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:1734038c-bac0-47ff-970a-94b133debace phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:37ed446b-a923-43e2-b7dd-75f1bc41a853 phenopacket.store:PPP2R1A.PMID_37761890_47  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dd361eaf-269a-4b31-a21f-f28f9e252b71 phenopacket.store:PPP2R1A.PMID_37761890_47  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:119278b3-0985-4b35-8037-e86df06ad9b8 phenopacket.store:PPP2R1A.PMID_37761890_47  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:41934703-710c-4849-a5a4-0a0d599b0f28 phenopacket.store:PPP2R1A.PMID_37761890_47  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e1f7ec27-d952-420d-8b7a-791f30caf725 phenopacket.store:PPP2R1A.PMID_37761890_47  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e40342af-fd95-426e-aaaa-665baf675fa2 phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bb819928-2b50-4222-8c92-b5073570e052 phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9a3016c0-2438-4891-9b4c-9a77b6de0aff phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8fe851eb-6281-4739-93d8-25211fdac6b5 phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6699c85d-aaa5-4b14-ad3a-4463780ac82d phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a031fe75-816a-4167-8582-b097642d2d05 phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c7de9269-f6d1-415b-af54-104f9d9b58f7 phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:1739f342-49c2-4b80-bde0-d73903ed23bc phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a0d4f74f-b1b6-4cba-bd6d-ac1a34e01ba4 phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:cc1ca80a-1a08-40a2-881e-043a897a802f phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:62f3b17d-87ac-4d0a-964b-29fc8be9311a phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e9bb3285-cc76-4206-97ec-2db475b7264f phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bca70c36-ef54-498c-97fb-57cad8041b55 phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0025101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c95fa004-574e-4b34-9874-059dc0a03770 phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e6901501-8a29-4e3a-bd9b-58268484c821 phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7d075330-64af-4046-83c3-455943a2c48f phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:64303cc3-4f06-405c-91c7-ca5b0a00f60e phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:25ae59ef-15c9-45c4-8d57-d5e5abfde212 phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e6b5915c-9001-4ec3-9ce3-24fa76a523ac phenopacket.store:PPP2R1A.PMID_37761890_53  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c9681bb8-c38c-42c9-991d-1274f4775456 phenopacket.store:PPP2R1A.PMID_37761890_53  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8b10b39e-522f-4c1c-a168-a7d52c87e596 phenopacket.store:PPP2R1A.PMID_37761890_53  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:89e01548-621b-43d8-8b20-268b2eb3a86c phenopacket.store:PPP2R1A.PMID_37761890_53  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:741bc0fd-9c80-4b46-8f25-f8349beeef6d phenopacket.store:PPP2R1A.PMID_37761890_53  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:b3c16594-f182-495b-b189-c41a4f64433e phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6c8ded41-8860-4c52-8c9a-4555a615559c phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:42871b2b-dade-4741-a3e0-c3432147f855 phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:26d48707-91b5-4458-aa81-a98cf4b8464a phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6983ac7c-8ff5-4d49-a124-c5f0dd6d7423 phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:76dc608f-6b59-4ad9-8de1-463a76ba4f0e phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5cdb870e-b4e6-482d-979c-ffdd0b786d65 phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b890b012-a759-47e6-828d-7d293a1151c7 phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:288cecf5-b6b7-4e61-a2af-ffd3da3cf4ef phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:8e4c6802-bc4a-428d-be81-cf1f8ea7abd1 phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:0a984934-81f5-4a44-b265-00d93fd16d9c phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4ec10d3f-429a-4e0c-90bd-09b5c9a3ffc7 phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e8327040-9f64-452a-abd2-83b0c17e6a82 phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:43c5ba1b-34a0-43d9-9b8b-e1e92b8e3e28 phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bf462a5e-0794-4a6a-bff7-0aeb6c7aa22e phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f574a174-ba02-4787-b156-70123a3f9141 phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0c6bc723-15b1-4a64-8509-7eef2283ef0a phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:302b2205-947f-4ac7-b707-f2e21357790c phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4f440d04-e903-45f1-bfa3-8c0b937da363 phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:cafc7624-3922-441b-826e-7dfe78a77a58 phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:7d1fc20a-e777-42a6-b36e-ede45186dd35 phenopacket.store:PPP2R1A.PMID_37761890_45  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3231ea12-ed0d-4674-b5cb-82a6003e7744 phenopacket.store:PPP2R1A.PMID_37761890_45  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:64252a38-bdb7-490e-8a18-9e00e7a78a38 phenopacket.store:PPP2R1A.PMID_37761890_45  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f7c64077-933f-446e-a8c0-638bb635f953 phenopacket.store:PPP2R1A.PMID_37761890_45  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:88ec884b-ad56-4703-990f-e9dbe50028f2 phenopacket.store:PPP2R1A.PMID_37761890_45  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:882f4149-65e4-4e98-8bda-0b62084d2e99 phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:46956a62-2316-4ef7-901e-6c2ce730b73b phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:03773975-9f09-4735-9f56-c74fb3adba47 phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:eb20f2d1-7b27-458d-b8d1-5db898fc4f19 phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e3a482c1-f76a-42e9-935a-1389189a51cf phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0b7735e5-268c-404c-8c9a-c1dad71aa35a phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b0013b69-e9bf-4636-b896-32f77dd643fe phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7005eed4-5d9d-47ff-900f-29eb5ee240aa phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2896884f-bba0-4370-92b3-4edbde0ff7e1 phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:bef528a4-0897-4b43-a6e3-5c3aac4917dc phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:efb2c815-ffee-477e-9739-b7ca9024f81d phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c7ca03dc-7981-4687-b202-bf5e813d5733 phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3ba7e4d0-58bb-4353-88be-6c0ff543d823 phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bf60957b-f45b-4400-b027-b1cbdbe216c4 phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6dd11609-84b5-4572-b5f2-886675009864 phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9965cb20-f939-4675-a511-3ac6651fab4f phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f043c659-66d4-43d6-9544-bfe50a4bf710 phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e5120997-5e7a-4e74-ad07-c088fb490cf6 phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b1dd45f2-8e4c-4688-a90d-54c97a1036de phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:92603ca1-2d4c-4c56-aa26-43afb62a2b5d phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:87569aad-7613-45ff-92f8-3ad0acca6b94 phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f14afd98-c36a-4d7b-aaaa-303db8aa0cc1 phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:957c4e48-5b20-4c6a-b385-6ed9c8666f5d phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:096a9a29-82c8-4378-a24b-f29295a4a1ab phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1933c0c3-4051-4a11-bb9e-7b04da829c0e phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9736eac9-923c-4539-8303-9485973d4dbb phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:587cf11f-ef26-453a-9721-6f4080516c99 phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:302774a6-da6a-494f-b76a-d4be7399b9d0 phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:46cd24c8-ad38-4856-9338-8e9c95e2af2f phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f9543f04-ed3f-4b9f-990d-063f50973ceb phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:27c55665-3651-4d17-93c8-a08f3fd93495 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a47d54fe-f16d-4793-bd06-22011c8179df phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4240e49f-cf2f-419e-9046-31967af79bc4 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1f6368a3-8a8c-4c76-8076-5b1893b42654 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7496fee7-e9d3-49f8-b31e-ff9b1d8a867c phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c2f24c46-3f5a-4628-8526-afc1cbd23cee phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b2386baf-54b0-4bea-98a5-df9ccbfdfc99 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9097064b-9d3d-410a-99fc-7b40449d5268 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c5b153fe-b756-4ccf-815d-08c3d51e38a2 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9ce60d08-c059-4c6c-9953-93e9d2e5f752 phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:bd53ee7b-e35e-4cd8-b1a0-5c7652c4869e phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:b4781287-b5fe-4fa4-8e0d-f564c4deb475 phenopacket.store:PPP2R1A.PMID_37761890_55  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:18d9890d-3bcc-4977-8ce0-99222d7db4e0 phenopacket.store:PPP2R1A.PMID_37761890_55  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a58ecb2a-67c3-480e-9eca-c84876d61dcc phenopacket.store:PPP2R1A.PMID_37761890_55  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:5b0873cb-abc9-4da4-af5e-efe816525087 phenopacket.store:PPP2R1A.PMID_37761890_55  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c445e951-c1cb-42af-ba04-2ceb64392bcb phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c7a8ba99-6685-45ec-93b3-74bbf88b619d phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0401ee9e-d940-4796-bc13-0200a2be45c9 phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:67dc9183-7625-44c9-8353-563277400c06 phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c1188a53-176a-4725-a93a-df98b8b86a77 phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e667d753-1d96-424e-b6e5-3007729d028a phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:3173fc28-edba-43ef-b78a-590dc6293bcc phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f3cd56cc-ba11-43b8-82ca-cab4cbc084b1 phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0218fd17-768e-4239-8145-7a90c7c1e992 phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b11a7409-6898-4ccd-9adf-ba2427f46754 phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:726f49a8-9ae8-4324-980f-b0d242d801af phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d45182c1-b705-48bc-b66a-64431d240949 phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:91d83b63-1744-4a26-bc77-dfe055d18fe7 phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4aa91d32-e1bd-4857-9511-79aca37d7aab phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:51318be0-4f08-42a7-9607-fc4a7186d9db phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:baa0bd78-c3e6-47e1-b6ca-c7b4bb94a96e phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:0d60233a-f636-4d87-b122-8073e87f7d7c phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:127fd108-beb1-41c1-824b-e2822339b18d phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:072a400f-f43d-4cfb-9b1e-208730dbb42d phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:91dffd8d-71c8-477e-8996-e1e3426316c1 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1a786e7a-562b-45eb-9c01-3b2e5fd30a1b phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dc5a2826-2330-4da2-977b-4e4146a88376 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d3d25b26-d684-418b-bd63-daf39fca2ef2 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b2e5ee10-fdc2-497f-a946-cc0e8191de40 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5658c516-c9c0-4e35-a6a1-7965e8a3cfb6 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a2860224-1530-48c1-bdc9-4d492baa5e02 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3fdd1f36-130d-4da7-aa1d-22d3c35028fa phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:7458165d-8a5e-49a1-976f-36e82c8a3b60 phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:b9338327-2cc1-48ba-ba15-13c70fb69236 phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6296a2d3-11f7-45f2-84a1-486e433392f1 phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7e07f8d8-5d49-4b05-be6a-e245374b0b84 phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0b1c48ac-bd99-4195-b554-67d235d35a2d phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ce5fdde3-f7af-4103-9a17-7770c2e6da81 phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:440aca47-97f0-43f3-8932-e87a454437c7 phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:663e39c0-b80f-4109-87fc-c9a612b76ce6 phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e06251d1-5b9c-4ff9-8798-94c09b75e005 phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5cb1a71f-fe3b-45db-8bcb-f19eef4fc662 phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:fba53096-b01a-4190-a863-762627fd5eea phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e33bd35e-bc63-466f-87cc-65b40191509e phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5d43054a-e750-4e7d-b862-deda1689c0b3 phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d9765f10-a1a0-4ba3-8504-60542aadb052 phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:7d6ad7c6-5407-44ae-982d-66f2424f1938 phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:dabf9ac4-1ee3-453c-ae6e-81e676608e86 phenopacket.store:PPP2R1A.PMID_37761890_57  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b1247779-ce44-4c42-92a4-993a21eb80ad phenopacket.store:PPP2R1A.PMID_37761890_57  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:548c73d5-50bf-4159-9d1c-ed106e2d0e88 phenopacket.store:PPP2R1A.PMID_37761890_57  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:54182772-2822-425b-bf10-446e097b4d29 phenopacket.store:PPP2R1A.PMID_37761890_57  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:07811803-e180-4f97-acfe-92ff8fec432d phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:650ef1da-1a12-4207-ba2c-6819c0761d61 phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:93d7dc06-56f5-4368-befe-da46b207625f phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:82e20988-94bf-4407-8f24-37c620eb9ea2 phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ebb4ed97-01b4-45b5-99b3-f47aaafd56e0 phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b81db2d1-52e4-4e3f-9ab4-64217f0ad8d7 phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0558db2c-966a-43e2-b8d6-ae4ffd68d6a7 phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:69733d91-6ba4-4195-a063-60fe7b28aa6f phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:28cecd43-7350-4dab-b957-510a26f85b3c phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9e100b8a-da57-4830-8627-dbdd7499e443 phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:09891b2d-22cd-4edc-aab7-7a8960f78efe phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:eebf358d-376b-4ab9-9136-1fe40e972007 phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:075abf49-9763-4f8c-9b0b-3eef9577fd59 phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e6baff82-2b9f-4bf3-aeed-f56c172a97a0 phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d1115275-22cc-4800-9318-a0f475fa465b phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9906302f-189b-478b-a99e-f4e642f8fa86 phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:4c488f7d-e725-413d-90e0-ff5fc14c5aeb phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c2283746-af08-4b52-b368-7a74da76ea92 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5d36ab49-e6df-4b79-bd17-cd2ce0dc4047 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:71ef1351-90fe-4d5c-853d-14d3d6a40403 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5f8af525-0a6e-4b91-905d-9043c7a3b2b8 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2dc479bd-55b2-4388-a6a7-c9f6789209b1 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:56920c7e-3efe-434f-b75c-4ab16c8a2210 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:623539f5-2903-4db7-868e-09a532401804 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:25a05ee5-ddb8-46df-92fd-6928ea77b842 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e0f688d1-75c9-471e-8079-d69375c2abb9 phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:28c45029-3f53-488d-83eb-fbcba73d1c14 phenopacket.store:PPP2R1A.PMID_37761890_51  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3b34e712-d157-4017-b191-65dea381b006 phenopacket.store:PPP2R1A.PMID_37761890_51  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:456da9ee-be44-4121-8f07-1329bd2f380e phenopacket.store:PPP2R1A.PMID_37761890_51  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:e3431a6a-f68e-4898-920d-d05708c71597 phenopacket.store:PPP2R1A.PMID_37761890_51  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:81b9ba38-af8a-4b15-bf5c-8b6b8024ad71 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b102f5e5-0f5b-4baf-a113-24a1fbc57f0f phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3e43dd92-7443-4df6-830a-3b1c22c6f3d4 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:af8e95b2-1a81-402e-aa42-60e5ac74b7de phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ab2218d8-e5ec-4385-8302-bc2093598f94 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8e9cb1ae-b9df-412f-8e31-9869bf02e15a phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2eb338e6-5ce1-43b4-b33f-45385e9eb164 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7facc6a8-59a1-4277-b104-1c04782bd48e phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6c6b9344-7f74-4e1c-8304-10f16765467b phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2552b1bc-31d5-4526-8d9d-4179307aa861 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:34b874ce-3f86-465b-8f2a-db0711c19577 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1765fca8-68b1-4f22-ae6d-43421ad33d7c phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c280adbd-d21f-4c75-bb49-077ed4f3249c phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b1fc5a47-206e-448a-9818-26fc03de8814 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a74f8e98-beab-40ad-a1a9-65f203dac126 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:a75b08c7-99c5-4dbe-a84d-8839a6da8846 phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f1194c40-67ea-425d-b902-ebc10970b0e9 phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:49169da7-104d-49f4-ad0e-ba6d2878512b phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:cf7ca337-36d2-4ed0-bfcf-0c0bc3430be7 phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0640b7f1-ff11-4d54-b044-07a0781e8c82 phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f02a0359-a3b2-4399-8461-9e1413c03f48 phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f0661e17-e938-4afc-89c1-045cdebbba5f phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:411d6ec6-7450-4ef0-8ea3-0137d05bc89e phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6c77c4be-466c-43a0-9356-7b4b870f66d4 phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:97647d1d-00d0-48c2-a52d-38c05d681968 phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:46e18665-8d0e-4791-ab61-2e6f0d72f5ef phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:6e559c71-d251-42f0-9620-287999c0c9bd phenopacket.store:PPP2R1A.PMID_37761890_58  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d21ddc57-d4aa-4776-a757-efc3a1a8cbff phenopacket.store:PPP2R1A.PMID_37761890_58  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:fe9eca13-3247-4fe8-a0f6-22c1993cfecc phenopacket.store:PPP2R1A.PMID_37761890_58  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:50ba881b-0858-479c-90b8-dd9d86335e9a phenopacket.store:PPP2R1A.PMID_37761890_58  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9828b3b6-2b5e-4085-91e1-8faed894bdae phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ff308157-3dae-4b72-ab8e-f6f78865324b phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d181e9f5-7e9f-4948-a4e0-7e4d3b428eb2 phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9aa8141a-3b22-449e-af03-45978b61baf9 phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b5ef64fd-50ca-4931-9e3d-a9b60fcd7ac4 phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f9b3b0bf-a126-432b-9ef7-28d707518e3c phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9c47e08a-05c3-4d34-aed0-ef7b4d823a69 phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dd782975-75de-4916-a688-9dfd4ab11d55 phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:a36a79a2-b009-451e-8107-82303eacd0d7 phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:8997d03c-a89d-4294-8aac-41f95b8601bc phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:45a0d4b9-dc87-4a1d-9720-bf7c1bc3ef4c phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8d58d41b-1ce1-41c7-bc80-d7f8c7119be3 phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7c628538-0e93-4967-b111-bf9a7d47d694 phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:90371551-fc2f-4a33-9dcf-75d330434dd7 phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:192b473a-7275-47e4-ba1e-e0fd1849396d phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:1fbdc4b9-bc4a-4f8b-aa76-2e43d74079c3 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a346c2a7-cf52-4f35-8f49-c681d428e683 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9a378016-17a6-4e12-ad70-f443ff9cd6c3 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d4d4b08c-1241-4965-aeb2-c27f036ce996 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6f00c797-dce9-460b-ba59-230210a17d79 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2ce23c64-5f82-4e1c-965d-838b45c5f1f8 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e5385a42-ec7b-4c87-8f1f-bddde3a3779d phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2905570f-6418-4da7-aaa4-8a61c46871c2 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2d8f428c-1d96-4b72-a870-c0516f92dc2c phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8a8cb1e9-dfa9-43c3-b443-10c970c1f4dd phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:670946ea-7a1f-48ee-a553-e9048c5786e3 phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:50935b77-790d-4a54-be69-fc540517d4f7 phenopacket.store:PPP2R1A.PMID_37761890_54  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2768ef47-794d-43ea-863c-be4bce370278 phenopacket.store:PPP2R1A.PMID_37761890_54  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b26eda8a-0bca-473c-82be-1c9612d0a6e4 phenopacket.store:PPP2R1A.PMID_37761890_54  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0d446dae-0886-478d-a8e5-d2e5916dd083 phenopacket.store:PPP2R1A.PMID_37761890_54  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:087b0273-e7f6-432d-ba3b-6e513b8d55b9 phenopacket.store:PPP2R1A.PMID_37761890_54  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:594eb661-3916-4b12-b270-2a9135597551 phenopacket.store:PPP2R1A.PMID_37761890_13  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e728eaba-4e46-4880-947e-30bbd90770ed phenopacket.store:PPP2R1A.PMID_37761890_13  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0e6a6ac7-ff04-435c-8f27-a13b3131bd80 phenopacket.store:PPP2R1A.PMID_37761890_13  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c797ed14-a0d8-4d45-9986-7bbaa0ff9652 phenopacket.store:PPP2R1A.PMID_37761890_13  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:70629cda-0f56-4c9f-bc43-ccc272c9f935 phenopacket.store:PPP2R1A.PMID_37761890_13  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:d3a32763-80b7-4c9a-8fe8-d067170a56ce phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7f825cc4-6e66-4ec7-9302-cb7051802495 phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4803f187-6f26-4a94-a523-1e786a4b2cb8 phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ed67edfe-6df8-413e-b350-fa5706fc06c6 phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0cadc549-2fd2-45f7-9084-5cbe0ade9a8a phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:cb0c8084-6a24-4848-9302-62c965ec0e0c phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f1b4f059-36ef-47da-a7e5-8638a3105c7a phenopacket.store:PPP2R1A.PMID_37761890_46  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:198183c0-7831-451d-a80e-edbcad29e9fd phenopacket.store:PPP2R1A.PMID_37761890_46  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d136166d-2f42-40b9-81b2-f46b73b70f74 phenopacket.store:PPP2R1A.PMID_37761890_46  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bbebc985-b525-4cda-80ed-cd972f730d45 phenopacket.store:PPP2R1A.PMID_37761890_46  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:0ce2ef81-e4af-4770-8bc7-69adeb1a6aa3 phenopacket.store:PPP2R1A.PMID_37761890_46  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:6fd74f69-ecde-4c68-8859-c051bbb4b977 phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:36d413d2-4429-4ff1-80a1-f3e9e3f6f3b2 phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f21cbd91-d4f7-43e7-bd7b-434af2a80a72 phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:838c63a5-275f-46dc-baa5-da84a8679bd1 phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:67afc8e2-52a6-485b-877e-5cb8e957373e phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:452e2096-d29f-4aa9-8266-75a82ba8af1f phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:73de3d72-9594-43f3-8e16-ddec5b8718cf phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9bd51dbb-251e-4c94-a437-e28bb990d247 phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:ad68d28c-81ca-4a44-a957-290eb075ff4e phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:331bc361-f190-44b6-acff-e538717b28ae phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7cb40e57-9e8b-4887-8a24-b07396fec741 phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b32e124b-a8fe-4aa7-bd17-6421c64ea70a phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b30ab504-328f-46b1-b4e5-cffcda10ab87 phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bb01d9da-1aaa-4cef-962b-78a13f8105ef phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dd003e10-0670-4374-94b6-c44a98e28376 phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1633280d-ca50-4171-aa3e-e060e2d9d878 phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:61780c0e-2b95-4c56-849d-a09dd2528fe4 phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c09297bb-d583-4599-98dc-cb2eb43b5668 phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c9d24f62-156b-4327-9223-805f12fadd16 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1f312f6d-48db-4893-8e57-b4cafa02d828 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:cdfed147-8ecb-44d5-9796-540ac1566906 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b8e5682c-7eb3-44e4-9549-88205b2f6fed phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1d654aee-64ee-4274-88ce-9c4b5bfc3078 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a74f1b0d-7f87-4c4b-bd14-28fa39834664 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0b0b8217-f038-4628-914b-4b7936a68f50 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:68e50040-9775-4d5a-9bea-e726fd1915e1 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:66ee925d-fc1b-4801-b264-8e439d64254f phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7d19c473-8d09-47b9-8123-177270bac6a2 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:0cc56c84-3ce4-4be4-919d-d66a7e6afc74 phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:fcea4efa-f9b5-4736-96b9-47738ea14166 phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4872e2b1-230d-4bd2-8dd6-aa64bcf1427f phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:62363865-2b9a-4ee9-b1b3-f7cf7022b962 phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:74b20cd9-bac6-42e7-a81e-65182fa04789 phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:420e1b7d-0e99-413b-bcd2-caa237edc2ae phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bb8b6c9e-71fb-4e01-9f35-1957c8e7c597 phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1166ddba-5177-4312-ab6a-88c4178d89fb phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:29c46080-36c1-41c9-b26f-e4c0eda106dc phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ffe65e9f-12b5-467e-ada0-6daf006008cd phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8c8528ae-d0cd-4727-9d42-6c4124ef1f9c phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2bf4649d-4460-4a93-b4cc-a3e882a5201e phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:954612c2-f945-43ee-af1e-a16b5f928744 phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9f05351b-f01a-4ff3-a133-0aef141e41e4 phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:32435d46-499d-4d81-a2bb-e5806c99a572 phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7b69b5e6-72a8-453d-8afb-2d4aee7cc99e phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b65101f3-eb85-4260-ac94-496431bcd1f2 phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e31f5491-39b9-4ed8-9679-ea85385090da phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3afcd2f6-2efc-4b60-8885-592adaac6229 phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:261e3f8c-0f42-4b41-9bbb-54314d14a78e phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:88f461be-d61c-476f-a399-429db1310fed phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:4552a3ad-e2bb-4415-ac6c-a012b31073eb phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:7d043694-9538-4eb7-9c97-3c85a8bd9dd6 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:66178e59-4d1b-4254-91d9-73d0c3587485 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c7371828-d5b5-418f-b457-204aa013a899 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dccea09e-e112-42fe-a87f-6c942f7dc524 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5a8fe8ed-c70c-4d77-bd9b-b464fcd6d44b phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:856dc335-c91f-4afd-aee8-2beb2b231a2d phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c8df2bb0-413e-4537-99cf-4abd22bb4a95 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5ec902ab-a4a7-4bdd-81b7-29c1f1e7f607 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a855bbae-9a44-4d21-bb0d-a56ab70084ad phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6bd0d8e1-00a9-4d43-a340-005da50a1c50 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c65814a4-33c5-4f1f-bb7e-2d9fb715f198 phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f549ca65-11dd-4fc2-85b8-43a94414301a phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:399086f8-ffef-4f28-a058-c8d637daad8e phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:200f1323-e2ec-41e0-bb1d-91d4014de512 phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:cafe29da-58e9-4fb6-972e-2bdd217ecbf5 phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:47bcc67f-2003-4e4d-b269-87f1cf569598 phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3ebde74b-bc5b-424e-946b-b7c3c332eadb phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:314130a5-79ad-4465-9705-2fd730b3247d phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:bb37cb46-f7a5-4944-86ed-408d0704075f phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:75b451ab-7224-4de7-8630-4374e488b3ac phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f5cd5809-1776-4dd5-b07c-6f6d371df2f1 phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:87f1a557-3aa0-4099-b9af-8dcfb933fd20 phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:45b9c574-6a41-4607-bc48-9d4de8f9c97d phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5a5beba4-3e59-4af4-9cc0-bcc9af96136a phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9cb7aef9-99ce-4e44-abc5-4901bd11f8ba phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9846c2a4-d111-4db4-bfd4-31460571c942 phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:201fccb1-4565-4994-a51a-b98da7b5696d phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:919b8cf7-f7cf-4296-9bb4-c0b9a4ac36ce phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c691798a-0867-4b68-829e-5df27442cd17 phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:df9d4e0e-28f2-4520-adde-368a84cf0a92 phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8ea100a5-f593-44fd-8fca-986e88f9909e phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:fc775146-7cec-4742-a5fd-cf64be7805b0 phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6ba8db24-3952-4bd5-b129-8530cbba70c1 phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7cdf612a-798a-4010-a5eb-ea5b189f54a0 phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:aaaed94f-dce5-4b23-a530-b2f2e8e71773 phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:cd8b05eb-1034-43f3-a34b-2489766a7218 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2a7afda5-ef4f-4155-9f1b-127179a4c859 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:c6da3324-e309-4007-8747-264286fc5b67 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f3b8e12a-1019-4f9a-8891-63634876adc2 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1e84adc0-5b90-4f3d-8d0c-964718e5d239 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7d1367ca-d96a-4b32-99c1-35557925cb27 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f42f5d61-ecac-4900-9f2f-23e73f99fb9b phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:fb072996-f7b2-4b2e-bda5-77ca29736cd2 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:71bd0d83-60a1-4853-9907-ae646ce06a40 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6fcf4801-668d-425f-bc85-5aa3a3f389a4 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:edfb22b7-1b58-43eb-80e6-3355f34787d7 phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:5dc29653-713b-4200-947c-ced3d75cffce phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:f4c3f1ba-c84a-4a99-bfa5-a0b7137571a7 phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4b09e184-2e5a-4f5b-9c97-1d345f20a17f phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bbb65068-fbef-446d-a76c-1c4fab167815 phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:db79f69f-4a80-407f-97cb-2f46f6c35d45 phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b6f6ae3f-a7c3-4c05-85d1-4ef1982c671d phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7cdebf74-e468-4863-a531-6fe6d579b177 phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0987c253-81ef-478d-8984-f7f52878160d phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b7aea329-6beb-4c58-885d-12743a6ce7d2 phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:267995ad-bade-4704-af64-4781e37695ef phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:4a56e1d6-a3a8-43e8-9624-750ddcb856e8 phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5f46e718-9cf1-4beb-820f-437c5f7ff4cf phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:86eb54ed-8f15-4cc3-90c0-7f2bd9452fa5 phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:44893a49-8cff-4ebc-b3a5-da5c6b43484e phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9ac4a74b-864f-4c19-835c-1ca221ca6c4f phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:aa9ac054-8f78-4f83-b5ee-674b36db8dd0 phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:224f84d5-4df5-4759-a531-133fc1123656 phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:6a693824-ffc1-4a7f-ba40-7e0c5da9d3f0 phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:265b76dc-5218-4fe4-bc28-34e9768563c4 phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3a2d7323-e3b9-43f5-bc7a-abd6b4cf4e5f phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:99a21b6d-ab15-4064-b326-ecd0d6c0d520 phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:26dab196-787a-4e32-bcb4-4784c3a7fcdd phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d7b8479c-cb3d-4a23-abf1-5a58009fca64 phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d31f341f-b38f-496e-a995-1f12f1c29bc6 phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7bd547e4-affc-449f-93c6-fadfc9b032e0 phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:db98e731-b710-40b2-a34f-4da7c76264ba phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c3bc57f9-4858-4bf3-977f-089ca857a796 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a8c6474a-e77e-42a3-a8a9-273edc2706e4 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:efb1cd50-6e4f-451e-b75b-5d3ce8bb01a1 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:08eb76ec-0fa2-4735-aaa3-4a38125a54a3 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:096663bc-3fe2-4803-b459-bf29a2877f3c phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ce6ed1ff-c8ff-4ced-a9eb-9c4e6bff5fc5 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d70db28c-1f00-497f-b907-8afc69ac248e phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:93b0506d-5260-41d4-b2a9-cf89be1831b6 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:37b6fc89-5bf8-464f-8aa0-ebf838a3e427 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:068ac6af-e1b2-49a7-8643-cdc27dab5234 phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:6658fb7d-79cc-473c-a301-f4bac369da0b phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:34b61269-c3db-4857-8af4-c5e291a048a4 phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ca7c2686-8c58-4a5d-90d0-d5aa47f6f03c phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:71813680-068b-4a2a-a578-f4f847fadd2b phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0701dc18-8a28-4949-b480-5597d530d8c6 phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:698e920f-f971-4037-87bf-96562ce73a35 phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:97691002-5238-4d6f-b284-416097dbf331 phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:61ee579c-8f52-4b9d-a878-b8bb4fab3572 phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:61e44cfa-9be4-4947-bd35-6a226d3a85eb phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2acb235a-c605-4d24-b842-18a573cfa03a phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:00bfe13f-051b-4aa1-ac4a-73c4c63e256e phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:78743b03-70ca-4fca-a750-306c8d03a7da phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ef053cb3-2e30-4a43-8396-17a46e33f876 phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4fbb7f4c-4f9c-47bb-9b06-7875aa0a3d0e phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6af37628-475b-4b7e-b309-c87b418b2ade phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:815fedc3-b330-4bf3-8831-b71c60dc12cd phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:f98e3c38-8756-4965-ac49-2bcc667fd18d phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:cdb73a75-0f1e-41c4-a232-2f7dfbdfea9f phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b4842394-50c8-4f65-8bb8-3ab3b1bc3cf0 phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:771b0b65-b6d5-4d09-8954-1bf70e1a03c8 phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bf9d37fc-cd69-4d6a-a2a6-9cb4738f2afb phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:585c4589-7933-46ae-ad9d-d0bb2fd73f63 phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b509852e-64ce-4a0f-a03f-40ff54b79c5e phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:686533b6-6b45-4cca-b18b-a42babad4cdc phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1bacecff-a1e8-4cfa-95eb-a31749adc7e0 phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:67939ee2-e952-460d-8f2a-fb08fa2efa6f phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:4b039bee-04e1-4164-aaa0-58f2918924a2 phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c444a195-803f-4954-a659-21651138d8e5 phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1cf354d4-6386-4f86-8c65-b3b0dd7aea20 phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:05b540bb-6607-486e-b819-df3452166698 phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9408d170-8150-4165-aba1-a84f2cdc953a phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:619c4b0e-b822-4198-bcb3-4a91583c4b64 phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:2b9a2712-325b-499a-8fe0-56f17a6e03aa phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:7d580d9b-380d-4985-af52-13341a72c2c6 phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:abeabc70-fd42-438d-bc14-0c65d4cf865d phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:9122293d-d000-46b6-a219-9d4fabb4f1b6 phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:38eb6537-84b3-46dd-ab80-b4cb4da90669 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:113c30e3-daf3-4dca-8084-fd557594ee89 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:fb7f1923-9c96-405e-9116-9449a72795f5 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6064ab35-eea4-4e27-b082-055fdaa93d87 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:85b25b72-e250-4f08-96cd-6d2efd09fdd0 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:27145118-a687-43d0-ab03-e1271318c238 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:bdb7d28c-facc-49f7-90e8-a3cda6bfbcd9 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8b6a9da6-db50-4cdb-a96a-b778d44f8875 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:19bd15e7-377a-4d39-9e4e-6192a3efdbb6 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:56807a77-1962-461d-95b1-be1cfd3ace72 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ed43f44d-7cc9-44ee-906c-4ef1d9c60af6 phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:50a1a6cf-9e4d-4c37-9640-17243eed090f phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:0907146f-302b-450a-abd1-e23cfd424cff phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4a9b3179-6861-4e27-b1d2-3f88cd43058e phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0da60519-4f4a-423e-ac80-2cc13c30ff85 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e620ca25-eb5c-4e84-aa31-78954b46a73e phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:76d5a7f8-d2fc-4ddf-9e65-9a65c38c2e99 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b154bb68-05c8-4dd7-a8ce-720c1eed5a00 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:dca37ed2-7886-491a-8c8d-a5b3451e8e98 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d7de02a8-d2b7-423c-afd5-cf448985ef52 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:fe570540-62e3-40bd-90ba-c45d5fbaf2e5 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:609a8a07-1095-408a-93d4-40e9c4b375c2 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:4479f2f3-eb3c-421e-9eae-63afdd288e62 phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:16aeb5c2-23d4-4dbf-ac61-d5a48e2aa67d phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:07d370e8-3ea0-4258-822a-8874269cd4ec phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e4134594-004a-4ffe-a713-2413a409758a phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1a43e8f9-dfea-46cd-8659-0f280e197e72 phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0294b674-94d9-4bdd-8ceb-8d46ebb3cf6a phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8f534e48-c31b-440f-88e8-4311d3b4e158 phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:93ac1f28-a363-4a08-b2f8-a3fb105d900c phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:89971f01-2c7e-4920-a511-ee0d315fed11 phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_phenotype HP:0002944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a8c8356e-b72b-444c-b710-1b515e46a48a phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:28f9dac7-9e0e-45c5-9bf4-fafbf8d53cd4 phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:36062f06-5a4f-44e5-bd6c-5de712771cbc phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:5fb2c396-a647-45c4-aaac-5cea0de588d3 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a6872e04-663e-40b5-819f-b9b6d042f725 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:8819b0de-2414-447d-98e4-5fc68c2ac3cd phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b98a3dfd-a146-4c3f-91f1-d70572ce3d06 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:4b8bc071-adab-46e8-99c1-91f538d5d060 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6176d3d0-fc48-46e2-a7c0-458de82f1470 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1f0e34a0-47af-4110-a37e-ec11b6ced2c8 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1af1e6fe-9f3c-497f-b378-de1543ab4514 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:de942671-a718-4704-a1c3-cb559723064c phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:78db665f-82e2-4cd2-a97b-bae3adf2850f phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:ad30f453-0b01-4467-8fbe-520ef80e2fb5 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:3289cbf1-40e5-459d-93b7-ca6a5916a826 phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:5ddf1174-7855-42aa-a049-15d378af320a phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:d53e9fc4-fa3d-49ee-9140-d5757ec43b82 phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:02dcdd1a-491d-4c72-a886-77a3f35e1b5a phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:0e0ae684-7a5e-40e8-98b5-21f3f539569a phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a150314d-c42c-410d-b028-40da79397f13 phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:7eae3006-73c6-40c8-a538-2cb7d118344d phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:b39dbc5d-7af4-4de3-abbc-3f8a3973d2ea phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:42a61a4c-1d1d-4aa4-98fc-0603155ab569 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:e0788003-032f-4cfe-9a30-9ca649130662 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:b3b79d8f-83ee-4857-917a-11b7e78d4d65 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:9c648a9a-927a-4f70-80ed-3f842596d994 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:a69e1f86-a598-4ae3-961b-b0acca20fb98 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:17b674ad-6bff-4515-88d6-292a99d811c9 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:3ba3de6d-1afa-41ee-92a9-ee21ff4c7fd2 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:28e03eec-6c01-4a7a-9ee1-0505b1aca01f phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:1e3f13d8-19e9-412e-8287-05916abfa2e2 phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37761890 uuid:6ec93153-81f3-40b6-a328-768a95a86b7a phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_disease OMIM:616362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:a8686ec1-c44d-4318-b705-d357a637ffdd phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:has_gene HGNC:9302 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37761890 uuid:c1575016-d668-4347-8aa4-4e2d20ba2d92 phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:9f1f5534-5d4f-4f19-826b-f431d8c9907f phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:aacd59b8-cc42-4ea7-bb89-5e455ee5c888 phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:264e9dc7-6984-4806-a28e-4955e2baae4b phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_phenotype HP:0032445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:a0d2f22a-c221-478c-99b9-142022b1d380 phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:07e597fc-3e41-47b5-9901-0075609f76d5 phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:36440963 uuid:e677bff8-885e-403c-8a62-f28930224489 phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:85a8267a-6ece-4ad6-8e6e-65b2a49875fd phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:7433c26f-8a53-4c38-82db-ca93b07f92e4 phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:0a8055ce-296b-4982-865c-7fef8cde0a53 phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:d76287a7-3c74-43d4-a892-4e83255176ae phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:d4e26129-4df9-4b91-a1ae-3213b9d13e32 phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:203e7c5b-df8f-4dc3-8356-86a76307292a phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:74e03d0e-7ad6-44e0-b210-c00a60d22f89 phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:96cd2af3-8d23-4c12-af75-b1c3c4593014 phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:50765c09-e96d-40c4-9e3d-d859ed65bb02 phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:3463fc74-e2d0-43a8-8835-c5460b0fbba3 phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:919544b2-3e94-4eaa-80cc-26708f309afe phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:60a832ff-aa6e-46d0-9718-de63df8e98bf phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:d6f4b96e-9f69-48d5-8cac-bfe4828e352c phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:155b0eee-71dd-4d28-9f53-e236a15b79b6 phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:dcc70eea-c4a2-4d9e-8e25-4c98ce4f53d2 phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:044bda57-41bc-4d00-b4b3-0deaf43bf892 phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:93eb495e-e968-440e-85d7-794e1d0683cf phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:9b770636-e2ee-43b5-a183-62893972c2b7 phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:95f48165-25cf-4fc9-b2fd-c8027a1c7bd8 phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:2606e886-84d3-460e-9867-e785a46cd465 phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:b3761347-34a3-4d27-beb9-7c23b36f0dbb phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:257b467b-4fb7-4e77-9d5f-5749bf42f693 phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:6d5a7461-346b-4754-8413-ab777d91c3b5 phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_phenotype HP:0032445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:56e4b24c-e1b1-4916-9fb8-07a52b3b5994 phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:f5c67c8f-e6b8-4e15-bd7b-3fc10c747352 phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:973be010-1bb8-45e4-8743-badbac39bea9 phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:34999953-fb17-4866-8369-966464382779 phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:ba4ad767-ae22-4550-9059-1bb9679e19eb phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:52903fb2-c6f4-4b21-b84e-f6868035ee27 phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:e989dcf6-8aba-415b-8794-b3eef45c2bdb phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:30817380-31ea-4580-b5c1-92fdcc0d9e99 phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:cea8fe3b-82dd-4f95-907c-432f8d502f68 phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:815a483a-2a15-4f34-a57e-d601e385c37e phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_phenotype HP:0030436 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:f5a7b2f8-e2e0-4092-91d9-d13a7c965e66 phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_phenotype HP:0032225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:b2e58481-9f0a-4515-be53-d0da7f9cf862 phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_phenotype HP:0006770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36440963 uuid:c58de044-2976-4978-a079-bb91eb6a643c phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_phenotype HP:0032445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36440963 uuid:75dca1dc-6653-4790-b99b-d674ee5974ae phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_disease OMIM:620459 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:dfb23fa7-0882-4475-8b77-1a2f9af90503 phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:has_gene HGNC:13995 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36440963 uuid:9522a008-6022-435e-8602-0ebdb258e881 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:daab427a-c351-4394-b853-2365a021778d phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:028dc6bc-84a4-4792-b1fa-5973bbc387b4 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:d927ba0b-95f4-4fe5-b348-798e3e4b6341 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:3f5a171c-e622-4569-8076-cb9eae51a33b phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:00ad5071-4fba-4489-8431-6088ba8194a5 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:29483676 uuid:44b1f882-2ece-4178-9e74-40d376298b48 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:29483676 uuid:c860d358-b1cf-4cbe-8cbe-13a16f604b9c phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:5af7b984-d8d0-4d2b-b6be-6c8ed7782950 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:17b8f678-64ed-4022-9bd3-19a21140a093 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:eda5fbb5-6341-4c53-90fd-72dee10266e3 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:29483676 uuid:6eab34e4-d3d2-48cd-908c-81addcf9880d phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29483676 uuid:1ff0d865-d006-499e-95b6-46fa3604a139 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29483676 uuid:02bf1b32-3e04-4ea6-8083-074d45cac716 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29483676 uuid:20348227-5cdd-46b2-a73d-89e16357f202 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29483676 uuid:cc3353bf-30a8-464a-9baf-888379d80482 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29483676 uuid:71b9e314-91b0-488c-bc2e-2f650e262557 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:f8234a79-fe2c-4ef7-969c-30d27491dd38 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29483676 uuid:17875256-9dd5-4dc3-b584-55bcd13a1f25 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29483676 uuid:a602577c-d8bf-440a-8e31-4863e874de52 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29483676 uuid:3529f6fb-5cd3-4b1e-990f-4a7e09886a87 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29483676 uuid:65114e2b-f383-47eb-b889-e76f0ee83400 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_disease OMIM:616224 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29483676 uuid:0b795482-0ce6-4804-a1b0-7b4bbb1dbc98 phenopacket.store:PREPL.PMID_29483676_proband biolink:has_gene HGNC:30228 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29483676 uuid:2e892375-7b51-43e7-8108-41675fd3d640 phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:e66fd59f-6f0b-4bb3-997c-231b18d5598d phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:eff8cd6c-01f4-4fbd-baa6-a9055e2bdefb phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:ac190f85-0785-4229-b57b-f85d304c7712 phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:2d6ae84b-d7f2-4e7e-8598-cb28965c167b phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:d8d35b70-e144-4e36-a69d-3341d1f23f15 phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:d6c3555b-3d52-4aaf-82d6-771a9de06dc9 phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0012178 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:80842d5a-27cd-496e-a0c1-e6c3a0a49e4f phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_phenotype HP:0012190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:12229880 uuid:1c7a96ee-eae5-4e26-aadb-745d9d0c8b43 phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_disease OMIM:603553 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:12229880 uuid:b676cec0-ab93-4a4f-9169-36baae54f0dc phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:has_gene HGNC:9360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12229880 uuid:d76f40db-aebe-4d49-ad2c-c705a41c3a4c phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:e4ca7a13-db15-4835-9dc4-5ece01f81106 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:40f4d422-aa08-4a17-87b6-6331e6e387b7 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:ddfe0cd9-d7a0-46e0-a942-cfb363d3efc8 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:9ee85164-ff6a-4d68-a659-4baeeb4ac306 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:244d3298-ee25-4949-8e12-430c0a44535e phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:fe019a60-c25d-4358-8f8c-d21ef6c6e9c1 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0002329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:e71f65bf-5871-4ad8-a938-531caeadcbdb phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:12229880 uuid:5c79b666-3f00-4e0e-9345-1dc2b2f05581 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:e43bad79-4ec1-4f9d-8598-bf408294c2c9 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:ab7b3a6a-fa19-4085-b9ec-fb4990c6fd5d phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:96812ea6-2d09-46ff-93f9-bf77562e8e4c phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:13f0e84a-4be9-4557-83fa-38f5f113d7bf phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:454f09cd-f7aa-4bfb-a43b-42d0354ccce0 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:44706ce7-b8ac-4a41-839d-e9997e21c67e phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0012156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:17aa4ecb-b2bb-4595-8eca-50425f3def1c phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0012178 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:12229880 uuid:9b23ab0b-53b5-4778-87e6-31380791ad3f phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_phenotype HP:0012190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12229880 uuid:6b300969-bb6b-4380-978d-4a421d6913b9 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_disease OMIM:603553 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:12229880 uuid:a23f5011-a60b-45c9-9c6d-09109be572f3 phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:has_gene HGNC:9360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12229880 uuid:8c3f0be9-d558-4b17-b7cc-228fb36e0150 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:6396e326-3731-4cc5-927c-9926b54cb793 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:1b274267-463e-483a-992c-3fd62877f5b3 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:28a61c86-63f7-40ea-9725-12e52f0e5522 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:e0ce081d-0dc0-4f48-8232-7b4e3effcfe4 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:604bf0bb-5e10-406e-a799-3eb34781a17b phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:19369fab-5795-44e8-84c7-b7ce5e44ff0f phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28468610 uuid:4ad076bf-b8df-4e0b-8c29-f9f326b025d3 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_phenotype HP:0010836 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28468610 uuid:4d2397a9-2392-4dbb-9564-ff665bd89468 phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_disease OMIM:603553 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:28468610 uuid:3dab2cba-fdc0-4ff8-a1d8-fa368acd950d phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:has_gene HGNC:9360 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28468610 uuid:2b68ef46-6656-466b-b4bf-7c0b6a9d208f phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:18412284 uuid:0a25d3fe-581f-41b3-84d1-8c1c308b8eb0 phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_phenotype HP:0007987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:ca01cd8c-8230-492c-9c9d-2fa30f31a5c4 phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:240a8376-e1fd-4dc5-a389-dffd2d7076d5 phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:d5644a0c-f090-4b70-9996-50af5b151e98 phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:137306e2-c10f-441d-a09f-ee98f6a5a42f phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_phenotype HP:0000550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18412284 uuid:c323932d-e88b-4add-9a1f-ec923819846c phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_disease OMIM:601414 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:18412284 uuid:2a15c144-7a53-43c4-859a-c0d2d1e7e30a phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:has_gene HGNC:17348 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18412284 uuid:a61508bf-0605-4d27-9be3-ea44e2b90b66 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:18412284 uuid:7dc8c528-8bac-482d-aa5b-a06952ff5e42 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_phenotype HP:0007987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:ed97fc8a-f963-455c-9407-4b027bbb31e3 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:7e7b1b50-8e38-42ea-8155-d437156c7106 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:1412aa81-0249-4094-b428-5e531632ebd6 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:174d5d2c-87c1-4052-a7e3-48d924293ef3 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_phenotype HP:0000550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18412284 uuid:bb49f820-559d-4376-b655-de80bec49fd6 phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_disease OMIM:601414 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:18412284 uuid:3efa115e-958f-4209-98e4-69dbf877386d phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:has_gene HGNC:17348 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18412284 uuid:18799c2d-83aa-4979-879b-4ba161e3237c phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:de2e16b1-1765-4243-b107-d1701c21d88b phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:1de3f667-0625-49f0-aea8-de9f12cc399e phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:c22efe94-2a26-4a07-8021-a4ab217c2514 phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:b2ee3edb-ae64-4309-9bc9-1bbe1818fb34 phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:c5fce423-3922-46e6-8069-ca339737d2ce phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:b9c27d76-69e6-44a2-9a85-766f7f99e359 phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:6d2447f3-96b0-4b32-9c7a-a78418abd0ae phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:8a99ae20-5be5-4708-a90c-052ecf1bb00c phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:2dedb171-bcba-4bde-8df1-cdaf6bca3a56 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:84640c68-f290-4ca0-a55b-daab47c205bb phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:a11c37de-183e-45ed-aad9-3e7f73b54416 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:6214e1ae-72f8-405c-80e6-bdbf37fba1e8 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:e8339bf7-1d1d-472a-b43d-421da75f4fd4 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:773ed764-4f84-4f3e-ad46-4c77f547f6f3 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:dffe8069-0efc-4a48-9b10-8cc6b2061c52 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:7ce732fc-39a9-432b-9475-abfcad9ceef9 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:470d5be0-c01c-4435-9ba1-90b73c1f2b3c phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:5b6012f4-d52d-4ce1-92db-1490a188d058 phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:1708445e-2328-4fba-84b1-408bed8d625c phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:7a214c5f-659a-4d27-95e3-e1a5808c59d7 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:2efaf805-67e9-43f9-b40a-6149a8c9a2df phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:5b18abaa-c44e-4770-a962-67a9287f0092 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:2f1a5bbe-b8ee-4a83-872e-22ae8b5da262 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:81dbabe6-f110-4f92-9b8f-86e249387c4c phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:bb6216bb-1185-4fec-9b7c-6144df297d88 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:85235473-7391-461f-a9c7-8393f6924c95 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:0561c913-a386-4480-a141-37834a36c944 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:1c874f65-2d1a-4714-85ca-5cdbf8dfe3f8 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:17e3b727-5073-4d07-b257-0a1d63c8d207 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:7ee689e4-6d4f-40f8-9aee-3c3a814d78f7 phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:2d2ace57-f2fc-4bea-9e95-be3b9d592031 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:4a2a3ef2-ebc3-4ae4-8e6e-029e27d5d9cb phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:9c0bc998-8a84-403e-b83f-483e2d4ba723 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:d8a95e03-2ce1-4bf0-b81c-faff2c273662 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:03553443-7f87-40af-8290-c04dbc93b57e phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:69b8e07f-fdf1-4dd7-8189-62b4f20494e4 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:3b9599be-3a3d-4029-b796-4edc2a4a4b07 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:2cb81689-035d-4101-972e-99909b9e6c72 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:e7f58dbc-363a-4363-9dc9-b082dec3c0d5 phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:504b44ae-2efc-4ab7-b1c6-0e5c8303cedb phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:21a6c06e-2380-4eb2-8616-188ff41c4c64 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:90ce10e5-65a4-4739-a902-9ac78e110dbb phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:be3b4c98-5a4b-4382-b95b-ec175225fd8a phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:c5ab7edd-40c6-4206-b3b9-d1156f7011ca phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:dbeb63e1-e38a-4859-93e7-d58e0ef11f21 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:95f32adc-cb5c-41d0-bb7f-3ed905146be2 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:42398264-88e4-4710-ace5-7df7d8cf2827 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:6df14613-a59b-4c63-af57-c364a4635e16 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:508414d0-6933-47fa-8f5c-6b2d18a7a6b5 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:9b472f09-8d63-4b0f-8315-64815c7a9970 phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:5367e71c-3333-4f40-936a-1a3eca404882 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:6c642890-8bf8-4f1e-93e2-486814d9eb65 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:6c223a7c-2ffc-4f53-aa0a-169adfb89476 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:e1b8e3ec-b87f-4b78-b6c4-41b609156141 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:b0b652ab-9b1c-4f5b-8ff6-75bd78bc7e07 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:dfa8e307-f70b-4445-abc6-a4c9849f7e9f phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:558d1fd9-efc4-4ade-a2c3-c920d034d886 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:1ef4b0b9-6cae-4b59-9777-9023c03fd229 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:e984aa4f-a6e7-4a32-bb6e-2409e6a8aea8 phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:9b0386c2-e52c-4eaf-846b-22a973669aab phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:95829dc8-2083-494a-b293-8c7da288210f phenopacket.store:PRPF31.PMID_30099644_III:3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:b64ddd61-7f66-45ad-9da8-8f133c2726c9 phenopacket.store:PRPF31.PMID_30099644_III:3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:336568e5-d0d2-4cbf-b56e-885ab4a00d71 phenopacket.store:PRPF31.PMID_30099644_III:3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:4d4ff058-82d3-4313-b792-d9503bea2e15 phenopacket.store:PRPF31.PMID_30099644_III:3 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:59be033e-b867-4dcc-b93a-ab4e10d547a4 phenopacket.store:PRPF31.PMID_30099644_III:3 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:a14ef8d4-d1ea-4c05-a66b-cf4959dc2df6 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:38e5a8d6-d522-48a6-a830-6593753acf50 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:66e93c50-43a5-4b4d-9d0e-685ce6182402 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:14ffd08b-419b-485c-a106-523a939f5e41 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:d13aec48-943b-4e1b-8642-354c2c542eca phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:bac6db48-12df-4f90-8ce0-14f7323073c1 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:bdd27254-d957-4295-b9c9-b174dc029d99 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:da13e564-4b86-4dd9-bb94-a2bc65e72dbc phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:651a7a45-891f-4029-9f2c-34c03f7d6974 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:d1507130-bb73-4cc5-9fd5-ccbcecd86e16 phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:58fd0157-cc91-46de-9b96-58ccb0610a31 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30099644 uuid:9bd5d054-614e-43b9-8003-c9a78846c5c2 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:301b1b64-b04b-471f-bf02-df717ce83ea1 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:c275d8f9-8e32-4dca-beef-3fe2ed3a95f7 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:16bf4957-7a65-4925-9564-22ab003b5ad9 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:7f67b0b0-b3e1-4cfc-a5a2-fc4231beda2c phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0001139 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:854905e2-4d5b-414f-97a1-2636819c751a phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30099644 uuid:e380b4ff-1d86-4586-9d65-9d303b3c5239 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_disease OMIM:600138 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:7b474026-c261-4d0f-a391-0833f01f6564 phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:has_gene HGNC:15446 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30099644 uuid:bd03cc00-e873-42ca-8393-2de0e7259449 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:c86aa065-182b-4e9b-b38c-fa84f98ed804 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:ccc854c0-72ad-460c-9c39-569bdb5915eb phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:008d3241-c1b9-4f49-87c0-c31f03d6273e phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:5f0a0ec4-d6ec-4d89-ad38-c96f9ebfbfc1 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:ad82140f-da56-475e-a088-5a1c4f295d40 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:222ab3be-06fe-47b7-8459-bc25b2f2d2b1 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:2619d88b-38bb-4dfe-96a2-df6bdf3fe8f3 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:b1d13302-8607-41e7-88dc-5ceab01f214a phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:6c5199e2-cdfe-414a-a162-d01946beaa1d phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:63334411-f244-4ba5-b1f2-c660d1ded90f phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:e2fe8025-2020-44ad-9d52-8e3968a11886 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:63fb0509-66e6-48c4-b32a-c9a51af91686 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:63d3258c-313d-4b45-b1a5-139c803c6106 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:53cb19c7-4ce6-4d19-b50f-3495c7e8d168 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0030214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:bda187f1-ba89-41e0-8ae7-24444fa2b98b phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:1a6ad476-46ea-49b2-954a-f1897f0ad674 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:06e60a09-28bb-4676-8f26-c8fdf72ecf58 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:356702eb-1a73-4780-afe6-11e07586f929 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:bcf01bab-c8f5-4aa2-9d95-7e59aeb74db1 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:40b523e1-b499-4f77-b0c5-1be2aa822dd8 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27134041 uuid:a81d69c9-9ff8-43db-b035-a6499675d437 phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27134041 uuid:be4c9f44-0660-4c30-b489-30d576dbd0c0 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:30398675 uuid:45cc0449-1270-4e7c-8256-04d465da271e phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:12b86e21-f122-4ca3-980b-b9d9a7c48089 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:2309a432-e68e-41a5-bc98-256b3b2645a7 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:3304e42c-68f5-4396-a2e0-6113f8afd354 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:be6adeca-0fe0-4129-959d-29f2cfd07a2f phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:493ddfdf-b842-45b7-bacc-198b15107f3f phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:b7c1c332-34fd-4afb-9e86-db7b47578529 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:dd1060bc-b1b1-45c8-8571-1b385a2072e4 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30398675 uuid:103e290f-5ae1-46b4-9feb-02f1470c32ed phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30398675 uuid:77f585e5-86ef-4627-96d5-523575462373 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:e346712a-3098-41e0-bc73-55eae4934389 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:8c28fc29-83b9-459a-ad0f-7e0ffbfbcefb phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0030214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:ecfe30af-ab87-4849-a0d1-276fa6c8e6a2 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0000711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:d8fc75e9-f3dd-4662-9394-3a8f4cb6e36c phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:73e8522d-2a9e-4187-860b-606bfc6704e4 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:e8e7e7db-6ad0-42e6-867a-e060e18d7ce6 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:a291afd1-d47e-4a81-9d3b-cee53879b4bc phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:a2d38a8d-707f-4a54-bcd0-9c896f65edd3 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:f591d751-60cb-419b-8f72-a394cb7f56ca phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:e53fd3a7-a16a-45ec-8006-f30cb7035bb7 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:b8c7a48c-3f24-49ec-9df4-234387c18c9e phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:d17659f7-04f3-464c-8190-4c4e5c0f1d9d phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:d73b2b25-f890-41f5-8703-8ab919e00311 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:848eec7e-055e-46f4-aee4-e4d5ce2d7095 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0032121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:ae13b5f4-6d7a-485d-b034-20cb270e6443 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0002362 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:4d6bbd84-d01e-402e-84a3-eed6657f665e phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:ab9578b8-5d4b-48e5-a864-a32732e87425 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:a313f95d-63ce-4c9d-a98d-f5d7ffe7221d phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:18ddca40-8cba-48d2-ac60-bcb06ef69627 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27753167 uuid:94733f45-a263-46bf-9bd6-821ee75c7c55 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27753167 uuid:769e401a-a0a5-4338-a455-5aecbadcd064 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27753167 uuid:c0a321ec-9a4d-410b-9178-bfc35ae41207 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27753167 uuid:a261befb-d90b-4acf-9f6c-4e940caaef10 phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27753167 uuid:198b81ae-6111-45be-af10-52f6b16940ce phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:0a8682cc-e548-4ada-9eff-e0464fe15e34 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:8130813e-8b0f-4e5b-babf-bed817f239f3 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:09bc83e1-a780-470b-bb7c-045a42472e14 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:d92c361f-5ba2-43a2-a0a2-195423e96d77 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:8c07ffd9-c0de-4e5e-8571-667da7aef441 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:786c837c-abdd-461f-9a6d-be8578a10a6b phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:f9f7212b-eff3-4453-8c32-84606ec0d858 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:29bf59a3-edfe-4b17-ab45-390951963bf8 phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:d4ae2b1c-5929-4e4c-a078-e09320f3305e phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30398675 uuid:91b17317-4905-4518-92a0-19cecc1d41ca phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30398675 uuid:8abba956-397f-437b-a61e-cc48e89b2d2a phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:41c37ff7-1069-440f-acb0-550c9702c15d phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:a8ba74ae-1ccc-462f-8fea-f595218134b9 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:8042efbc-ca76-4d18-a84d-7f0868f28d7e phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:c10e090e-fb07-4a1b-b8dd-3ce16c817f76 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:da9271d8-fd6d-4987-b9f5-012b2aac26f4 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30398675 uuid:84365e08-8aa3-4d7f-be25-6098634b4086 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:3ee22565-db1e-44c9-941b-cca574e4846a phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:febe158e-d7b3-4e2a-9506-f20ca392b55f phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30398675 uuid:13aaadba-c695-46b1-acf4-0db03496b5bf phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30398675 uuid:d10536a7-b5cb-4788-9499-dcfb14b6b646 phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30398675 uuid:e992a04c-81ad-4078-a477-f3aa5123d14a phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:72862cc3-c9f7-4a4c-96b5-abe7484d3af2 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:bb2f8003-78b4-47d4-b9f9-a2749289d30b phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0030214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:86868ced-8419-476c-aeb0-1f6fb6f7aefa phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:adfdf993-ef1a-4260-b95c-14e563655754 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:d541f3bd-3c16-4d7d-8eaf-5c8c18ebe9fb phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:1a85e3bb-9ca4-4bb9-9338-a5761a159c32 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:46acd043-b514-4126-a9c9-3455d8aaedb2 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:1e9d4a4b-d70b-463d-a6e1-3ea81e9e279f phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:4786f727-1a06-4eda-ae43-cbd7df10e771 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:46193d8c-0847-4e5e-8790-1e077ab9eb20 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:98dfb550-d6ae-4b95-9773-4852e7062b39 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27753167 uuid:297a3b16-38e3-4a30-a1a4-41f50ca082ce phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27753167 uuid:b276c0f8-d09b-4ac5-a9dc-3a93ac31db41 phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27753167 uuid:b3c2bf91-a9ff-46bb-8a43-f65277ec3f7e phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27753167 uuid:d46ae89b-3083-4535-8ecf-2d83f818cb5e phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27753167 uuid:601b7b35-6eb4-4e34-8fa4-c3aa169e7338 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:172a7f0d-e9b8-48b0-b281-ed22e29508d2 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:93fa3a75-1f29-4c6a-9f68-a4bed7e24b0d phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:437e7107-acbd-45e4-ab8c-757180f5fac4 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0030214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:99b832b8-88bd-4026-bfc0-77d82102be46 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:9490345d-584c-4551-9081-1fcd79ddbdfc phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:7e52f8a6-31db-4435-904d-38d12f68a5f9 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0000711 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:20515655-0366-4d08-b7c4-dec243c35239 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:e7df6251-d7eb-4094-8e11-1f07fa923b04 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:f5e7f0ce-4310-406e-871e-d58421c78874 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:f1beb271-7f1b-41f2-b980-19160df1076c phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:0d9a1963-e020-4c08-89a9-242ade63d426 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:5e519414-39ec-4538-848b-d46859f799c3 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:1c7c83f8-4c8d-4b15-b688-ccdfa0ca4d37 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:97ab8286-ce4d-42ed-bd68-06c63496f725 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0031825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:56a105c8-dc09-4e83-8950-cff46c985012 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:4a5ff50a-760d-47bf-abc9-93194cf6e672 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27134041 uuid:65615f9d-0a67-436f-a344-6acc5f4d78f8 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:54be90a0-8ced-4d27-a960-841bee31d454 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:5a75908a-1316-417e-a2b0-8695d7b3ce31 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:ffc4d4b8-356e-4eba-825a-d229340aeef0 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:deb1004a-d0d2-4f8d-8fe1-26468d593b09 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:27fbd9d3-4e32-46ba-a826-1cbce620bbcb phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:a0a3d58d-79b8-4cf1-bd57-521b4a8cd3fa phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27134041 uuid:7f39a1b8-8bb6-45a7-a1e9-88ee6069f8ca phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_disease OMIM:620747 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27134041 uuid:2f8db91d-ea9e-458d-8913-8c6868f7e961 phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:has_gene HGNC:33782 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27134041 uuid:1c976afc-5800-497f-8a7f-b0705b6d0d09 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0002511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:30104866 uuid:30344e44-054a-4ead-95a7-7b7a97aa8c49 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:30104866 uuid:46a5c34f-8ea5-4049-ae9f-77a5d2efb389 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:30104866 uuid:d7a26343-a741-4c41-9288-420271a51e21 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:30104866 uuid:ba49bc11-3756-44aa-b19f-f77ba6d041c5 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0031058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:30104866 uuid:40b7ec7c-28e2-498d-a01e-c3f7c89af199 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:30104866 uuid:f389303c-fc08-498d-a252-7de619ff82fe phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0007112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:30104866 uuid:3e029df6-c922-4abc-b213-2756ad18cb6b phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30104866 uuid:948d327a-a5ee-47d9-a569-ac1c89921f86 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_disease OMIM:606889 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30104866 uuid:f28e4515-d326-449b-8a1c-1e3bcffdfe91 phenopacket.store:PSEN2.PMID_30104866_Patient biolink:has_gene HGNC:9509 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30104866 uuid:7e4382bf-427e-4570-9a01-709108ad9b56 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12925374 uuid:fde4369c-5018-4b44-93d4-9a1110016761 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0002511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:f97bf50a-9eea-4669-89fa-9a9cad9cc935 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:e237236f-0620-4733-b812-9abbc59c9567 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:249d1748-3991-4bb8-9f99-c6936ec58045 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0031058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:d1d59e09-2834-42c3-b60c-dd7777180273 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0001289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:1c748db6-2ca2-48e3-bf60-866077b99ba3 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0030784 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:817727e2-6c41-4109-8af2-ae0f3a99922f phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:5c4d1a52-24a4-4f46-ae0e-432ed6e80c5c phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12925374 uuid:59470d1e-99c5-44cb-a38c-5415554427b4 phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_disease OMIM:606889 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12925374 uuid:0d460277-4af8-427c-b29a-8e2dbe2d8cad phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:has_gene HGNC:9509 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12925374 uuid:29d3b3f9-4ec4-4623-b200-543ee2adbfb3 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:12925374 uuid:3d4ae5f5-f185-4b3b-844b-da2e041f44dc phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0031058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:12925374 uuid:c1e61856-e178-401b-80b1-10f9626212b3 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0001289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:12925374 uuid:2bc4e1f8-072d-4b86-8e81-c91fca9d50ca phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0030784 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:12925374 uuid:5cf9cfd0-9736-4618-a9ce-e05e4fa735a8 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:12925374 uuid:8405ae09-76db-47dd-af4b-b774a73700ec phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:12925374 uuid:45c0d994-a9c1-42d5-9350-48f1f636d86d phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0002511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12925374 uuid:7b674229-708c-4356-99bb-6bbf864daaf3 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12925374 uuid:56ddfa17-5082-435a-ba84-501a3394bcd4 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_disease OMIM:606889 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:12925374 uuid:e5c1abd0-a251-409c-9640-3064f612a5e5 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:has_gene HGNC:9509 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12925374 uuid:f0dfafeb-7b50-4cb3-84b8-865eb2903cec phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:362d2ed9-2286-4e61-aea7-431fa04e7141 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:30fe5efe-bc69-4217-bcf4-dedf6e920fc2 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:57d4c424-96bd-49e1-930d-60f31ae2a2d2 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:eba13613-9f0b-4540-aff5-20ecc1559bce phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:f82e8e10-95fa-4b88-a0b8-fcce10f92cad phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:3919ff59-fdc7-44f3-9d73-ac22d064f5db phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:a77f76e3-a05a-482f-8c4b-26f40786b8b4 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0033221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:5583f135-6e8b-4318-83e3-abdb2e1fab1f phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:eef888bb-52bb-4a11-9631-494b62da462d phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:1ce0dc96-ded8-4f86-a133-9d49ed836de2 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:e5569823-473d-497f-981f-f01203247e92 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:31783715-ded3-406a-824f-d46bdd5d7767 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:f9f436c4-432e-432f-9967-d6374f8110b4 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:97b31ef0-fe00-4e4e-b1d5-200a04b6b62e phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:b8aaa691-da79-4390-aed9-b0e0720b7e12 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:a0a49542-cf9e-4aee-b8bf-ed866aecff43 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:52cfcba3-e1dd-44eb-85be-b92bf716d1b7 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:c1ead63a-d562-46bc-88b1-d770c4a9d343 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:549cdd84-f7bc-44b1-9210-1b16f982e78a phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:d769ca0d-a9cd-4c3f-b606-f7bd46635cd7 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:945bb0ff-c7d8-425d-974a-098dc046a0c1 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:5d010dc5-772c-4d2b-b5f9-9535f9b0ca34 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_disease OMIM:620807 biolink:CaseToDiseaseAssociation manual_agent observation P7D infores:phenopacket-store PMID:38503300 uuid:bf6d0a45-828b-466c-8144-5164cf02f82c phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:has_gene HGNC:9538 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:5881244b-a805-449e-9ebd-c0ea93808e25 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:08d9340d-de2c-4366-b0f3-aeac8b8abf9e phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:7b0ad958-0c6d-44ed-a590-813eaf8272bc phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:2735c754-e033-4c71-b621-6639e30ba154 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:8308f339-5657-4db9-a8f9-02afe5578dc1 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:56948e70-4328-4c1a-8a23-aac6efc7446e phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:023a55ef-22e0-4684-8219-d44891578820 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0033221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:85ca9569-0789-47b3-860d-fced854f0015 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:8711a161-80d2-4534-a23c-7f44e89768be phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:950ffff8-495e-47d7-9365-e2e2cb6117ee phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:b25d0830-bfea-4518-874d-ce00a78dd13c phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:474ce1ef-a63d-49e4-88ac-7188bbf65484 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:2683147b-4723-45d8-af02-96f84d4ef9fc phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:dd2efce8-c788-4b3d-90a7-23fc4475a527 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:67adc4d5-002a-48df-85a0-e02d72618312 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:e7899fb1-89a6-4d78-bc0a-58c3bee0088f phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:d4f37e60-234a-45f6-b7b7-d26ecb171fac phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:c7fde1dc-c515-40c1-950f-0a616a4b07ff phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:909d0b7a-49b8-4d41-92ae-9d0e817e9d9c phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:3e379aec-661b-4846-91ca-f0f067653147 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:e79d6e87-8879-4ee1-b7d9-74b42f15f33c phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:327998a5-7776-4e21-bb49-2c9d23b3f560 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:6d225b8d-a4ff-4c1d-9795-aa2ee310af63 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:e8a975ac-ae3c-404f-9829-6fdea808738a phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_disease OMIM:620807 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:38503300 uuid:f5c0b9a5-e3c9-4be0-9f3f-c82fbf36a3b4 phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:has_gene HGNC:9538 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:00492d32-29e5-4fac-b460-b8781db2cd34 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:d863071d-6573-4983-8c3d-2dd3a1560ad2 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:916c9c53-1b30-4612-8083-336dce52be39 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:268038db-74c5-4519-8181-70c6b4eab009 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:a219c12a-52d4-4eba-b99e-3055d0824838 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:68cde480-6ab4-4240-bbee-532fb37d1875 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:b0380618-5835-4086-b024-a686ac342383 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:6b6e10bb-9861-4060-b764-78a143024785 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:485bc533-59eb-4ddd-ac8b-282fbaf33f22 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:e3d4b682-97b6-4168-a5dd-5917bc63d71a phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:984fb540-c22f-4d16-bad6-c3c2b5caff67 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:f491d712-b4fa-4e59-b315-6d60849ae553 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:c9fbf38a-d0f4-4518-bbd3-ad006c052542 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:96668aea-f428-4e4e-9d7f-5ecd1edca90a phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:d24b8aa3-0924-4248-82df-6b8202d283c7 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:eb60e477-2187-41e8-9727-a8eb0c1eab26 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:8c63bfaa-18ff-4366-be42-7d3317ef361a phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:73aa2460-cd89-4167-bbe7-0ee923fe54a5 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:9c3d96b2-41ff-4ede-ac29-284fc26c6493 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:1189920a-7a4d-4fe4-b92f-4a1ab0dfd9ec phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:35b45f89-142d-4b6a-8c0b-9b5c98f055f7 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0033221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:cd6d252f-dae6-4e7d-91fc-43d4070155c0 phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:564d72fe-dd62-42ca-b758-c5c08cfa376d phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:ee70b6ea-f299-4afc-b323-3883b930cedd phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_disease OMIM:620807 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:38503300 uuid:e24efb22-f559-4d3a-9e94-868ed68a18cf phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:has_gene HGNC:9538 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:bcfe9c10-d6a0-401e-b28f-e12042a10be1 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:949a1da3-0afd-41c5-b227-159e5ff48de1 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:064ccfaa-79b1-402e-8325-ab5d5803b7ea phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:2292ea14-2ee0-4087-a81d-6750ab44e07f phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:085a7e1c-7ff0-44e6-b584-075be1f1de08 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:972f321c-6046-48d5-8c00-dd1e4b83f7ea phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:4c307e92-d04e-450f-a9d8-7401827d8a07 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0033221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:a0013809-f7d3-40a7-97fd-3f8030864faf phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:06531740-9f96-412c-932d-270547891a9b phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:6dae7935-2228-431c-9081-e06b3616d55d phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:c990a31a-e4a2-4712-9395-1394807a4fa9 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:25f4bcac-d2e3-41f6-83ac-a82c4f00d647 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:4218060f-1159-4f68-a96c-e346b0478c64 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:cdc69428-c871-4d51-b75f-2dcaa4c2b5e9 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:7a5a8485-fa2f-41ac-b0b2-e5020e9cf025 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:a340efa9-41ae-4e2f-b637-e693da351d7a phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:228394e4-886b-40b4-a5f4-0ea1b6baa58b phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:1f232233-bc03-4fc5-b35d-c8a8bc0ecc69 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:9f1b861c-b20a-49c7-915c-c9e093b923aa phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:1128ee80-b2da-42f0-86cc-81abffad1860 phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_disease OMIM:620807 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:38503300 uuid:f8538cf1-c722-4bb7-86fa-2d9f71706cca phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:has_gene HGNC:9538 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:a478355e-7d61-428d-883b-8989a12f8791 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:60e74378-3d40-4978-a0a8-8b47895da290 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:7842ab24-ef66-4e91-b1c0-4c3121f8352a phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:53e03f19-65ef-49f3-82c6-d3570fedde98 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:0b1f39a9-4e92-4d1b-ac07-ad47af88fdb5 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:8cb8d0b8-4877-45be-a4d0-23b3b2b70245 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0033221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:7f1099c0-84d3-4463-a418-c6c649b8c569 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:9befe336-f091-41cd-9d67-b2c579930d44 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:faa755c7-38d8-4935-92c6-cfaf9d0bf443 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:ffbecf46-7a0f-4121-b365-c9e287080113 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:06d8a632-9434-4936-898b-59ce532d6a46 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:67a888c1-e69f-4e80-9757-ff7d836bc766 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:2e0728c5-1516-475c-b106-4abdb1915006 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:b31c2364-e285-4391-9a01-9cf554902876 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:203ae98a-8e7b-40b2-8076-6acd0fee0293 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:e3e46d29-2e17-4d92-a160-94e2ee85e913 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:6c4cf8ee-258a-43a8-bccd-749e8851b9ad phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:eabd29ef-2e11-442e-abb6-6239cbcbf9f2 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0001596 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:3e24cd66-9b0d-4f17-9c34-e68a45729a12 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:584d15e4-72cc-4998-a026-2c5b11cc1b3c phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:cf951826-2942-4814-beb3-d05051f5c87b phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:f4b0caec-59a7-4940-b2ad-a14f7b2f5f61 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:be5feb1b-51f8-4bb4-addf-587c58beaf3a phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:f8bd3494-f1f0-4335-bf69-c06a4a28629f phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:c613a81e-a5c0-468c-a372-53ef67efb40d phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_disease OMIM:620807 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:7c1ab6f1-b73c-4d91-a7eb-9dfd1c76b645 phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:has_gene HGNC:9538 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:99e7537f-63e0-4baa-9c05-f5f57b9d7d27 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:b1c34eab-2ca2-4fe5-b94e-0c282266710e phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:d89c2e77-efb0-4a4d-a728-76d99c5248f7 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:da9af37a-9515-40a6-ae69-953a31b62883 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:cdded7e8-bb36-4959-9a93-edcc177d290d phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0410378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:d7281bb7-676d-4083-8081-226631aeb49f phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0031381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:e03a8e70-8c0e-4b18-9ab0-073d7d8d7c6b phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0033221 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:09114352-93a8-4a57-99e8-f9f7c3d968a9 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:1232e120-51d7-4dc0-bd9f-d060e2135ff3 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:15785c65-a34c-403b-8e86-e4463f5f89da phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:28350810-dd65-4078-92a0-244eda14e4fa phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38503300 uuid:2841b05d-f734-4384-ab2e-69726ca05759 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:27f915d6-0309-4f5c-8c40-6d213c458f84 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:45610326-3371-4499-be28-7750a62cb514 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0020102 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:277f8d72-66ab-424c-be1c-bd5c51c282aa phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0001880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:a419ef6d-a1cc-42d3-be54-73a2d278494c phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:b7c87b2a-ff43-4f7d-9bfe-f55bb932b389 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:c19c92eb-e571-4353-80a3-4b5ba5918bba phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0032132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:c9260f0b-4404-4dec-9919-69bc1787fb5b phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:1c09a05d-d99b-4aaf-a3a5-a48de26acf4b phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:b4c71997-18a0-46e2-a724-784c721c8493 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:10ddb1b4-be4a-4234-b0e6-ecd26c6d7360 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:282eb4bc-a998-46f6-bf8d-4979309d70a6 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38503300 uuid:4ed8df80-2923-48ea-9fcc-9216bba9db7b phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_disease OMIM:620807 biolink:CaseToDiseaseAssociation manual_agent observation P1M25D infores:phenopacket-store PMID:38503300 uuid:2fd00816-7350-41ff-a666-f0a3f62ddcb9 phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:has_gene HGNC:9538 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38503300 uuid:9d1bbd40-c0c2-47a8-9e77-a0ddf92ab006 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:f48a531a-9a8a-4611-b2fe-8b821033cf9e phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:b2d14b32-c640-4917-a2cb-495ddb1855fb phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:e324829b-564b-4922-863f-af6670da79b5 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:89aba74b-e104-4972-847e-6d3c2afb06c1 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:7c8cfba3-acee-4be6-8e7d-659890a25a77 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:d17a3bb8-9caa-4996-b395-318e1dffef7f phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:b6d3219a-6fc8-4943-b667-bf2442e6e464 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0030149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:60e9e1fc-8334-409c-9b20-5885bf228522 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:6000374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:d9a09a93-54b9-4b63-a33a-460f3317eed1 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:2baeb5b8-420f-4b8e-bd38-359a1cb353cd phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0034447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:1f66a19d-94f4-4cf3-bbea-6e4c2e84951e phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:6000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:2a9e8d73-2245-451a-8ea8-a0cdeb0131d5 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0030356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:34819510 uuid:2463e404-9628-4199-99f6-d9b53a230bd1 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0000988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:34819510 uuid:c00adfa1-0c5c-4cc6-ba51-7b37b3bc4c8f phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:34819510 uuid:06b44e0b-b9bc-4778-90e6-653d1a2dafd1 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:34819510 uuid:c493d848-d545-4ca5-a84e-3c1d45fa78df phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0500271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:34819510 uuid:aa0c9cbf-6b42-463d-a824-7ba494661f30 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:34819510 uuid:2171e6db-a138-4c09-bf68-54d0865a9520 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:34819510 uuid:9a02f8d8-3671-47a7-835f-8720040988e5 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:34819510 uuid:2bd9b312-7e56-4168-999f-686914d886be phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:34819510 uuid:a2f076f3-4045-4da6-af50-08f8fb3637c2 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:34819510 uuid:695f3da7-e735-48bc-89d9-653a60ff0596 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:60096636-8666-4254-947f-0f53098af12b phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:abd6b04e-5c32-4a73-b9be-7d82b6410833 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:15949aff-ebbb-4339-908e-e36a2a2abda6 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:16410433-780c-4517-ba0c-d387ae2e35ca phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:c4251a0a-fd8e-4eb0-8f10-72f7a7dec87f phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0033199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:17f82a91-c5ab-4bf7-a6f3-3f653b9a41e5 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:81903562-e65c-4800-b0b9-8606b20a2511 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:8b441716-b39f-47d1-b183-a79958860730 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_disease OMIM:620796 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:34819510 uuid:78ccab89-4516-4517-b074-9949c8a88036 phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:has_gene HGNC:9546 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34819510 uuid:5037a1ed-a87c-4b63-8af1-272bd67cd437 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M12D infores:phenopacket-store PMID:34819510 uuid:a793fe0b-a9df-4629-9d10-ba5bfa3ca7bf phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M12D infores:phenopacket-store PMID:34819510 uuid:b8edeb8c-d9a3-4005-a8ce-7f00d243cc1f phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M12D infores:phenopacket-store PMID:34819510 uuid:a0607da5-e227-4531-8c8e-d123e15e6740 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0033833 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M12D infores:phenopacket-store PMID:34819510 uuid:ff7bdf41-6a6a-40fb-9cf5-ab0433c2d332 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0000988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:8e2c7378-f4b2-46f0-b0f5-9429bffca3d3 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0002922 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:03ca365f-d092-49c5-88c7-98299921aa4b phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:960bd7d1-dbaf-44ce-b98a-8bab847bf722 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:fcfde2e0-644a-4c7a-b69a-8d6bb3b251ce phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:a8753a70-2e7b-4180-b6a2-6e7f1f8ced10 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:6698ce3f-c6a0-47d9-bd80-dbc4e20d957d phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:34819510 uuid:1653a8d9-6eb2-4097-8252-5b669b5b0dae phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:34819510 uuid:4ea83ee3-758f-418f-8a78-904cf62a21c1 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:34819510 uuid:53e6eab6-555e-4227-bd8c-a808520f5833 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0500271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:34819510 uuid:63647611-de82-4b73-9100-4c02299c2f10 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:7e45927b-c05e-4968-9dc4-69878bdf2afb phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:fd0a15f3-1ba0-4978-bf87-fb9e0386a15c phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:b2160672-5bf9-476f-9f0b-5503bb3a92f7 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0030783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:a48ad02a-73c1-4505-9001-b4776061fd4b phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0034447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:072f8efb-72cb-4d9a-967e-a500cb0ddb73 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0033199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:74dae3c5-2c31-47fb-ba5b-dd2c7652a27d phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0030356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:9814dc9a-978f-4286-b09e-3cf6d0e072d7 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:34819510 uuid:b48c6f60-d106-4426-b135-8b6fee1f48bd phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:1c22d01e-7100-4b41-ba22-8e06310ecfaf phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:c61d7cea-296b-478e-a940-a8a75149f557 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:364a4c32-6711-42ad-ac29-4ff8623db8ca phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:d010e8f3-6841-4af7-b8f0-a05b3f5a5aa9 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:6adb5321-274c-4b24-8602-7d8fe990ff93 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0031185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:8ba42f6c-3c15-4ecf-94d4-704d2e57e99c phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:e24bc38a-0ec4-4156-b365-a94058124bee phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0030149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:0d420c52-c17c-49d5-817c-d9c03f6f9952 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:6000374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:497b11e0-05ab-4c5f-929a-13f918e59633 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:6000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:d70fbf8a-079c-4980-ba76-d658459f17ad phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_phenotype HP:0031545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34819510 uuid:c3fb461d-da66-4202-ac51-0d28ac594591 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_disease OMIM:620796 biolink:CaseToDiseaseAssociation manual_agent observation P25D infores:phenopacket-store PMID:34819510 uuid:7f93b8f0-eb5d-479b-8e33-bacb0a138d79 phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:has_gene HGNC:9546 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34819510 uuid:196b5fb0-cbc1-49d9-8c0d-f596f5b6e4c0 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:06953b37-cbea-45cc-9e11-0b8196c725dc phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0000988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:f6f249bd-c260-40c2-905b-23033433e129 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0100614 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:1441eedf-14f6-4b80-a37b-7d63ff415062 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0002922 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:3764e931-5f6c-4103-bf57-2f904266eb5d phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:d376ea93-c6bb-46c4-a6c6-0279ce91b417 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:0f0a9db5-d86b-42ab-89ef-b516bd78491b phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:df84bc24-9281-424c-b931-c79a36671566 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0002135 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:c5c9ca1d-3f7f-41b4-8ccc-5f59a98037d4 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:4b2e2e15-2581-4940-90d1-557d98deaf45 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:7f8fa693-92d6-4e30-86e1-f1ce30c77a35 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:b8e6d625-6781-44f8-8732-b0f37ebf16d4 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:3f4cc0fb-ae14-4933-90d6-cf10899b5395 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:8952196a-df7f-4b7a-9596-c21fd3b857b5 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:462f8f87-1702-4f7f-b254-a8a719c328ac phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:da8d3807-cf0e-44d9-b914-cb34e708b19a phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0030356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:97748ab6-6caf-4026-a7fe-7604b18daf24 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0025435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:e8a7705d-6c9e-4583-aa49-48beef1ad4e8 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0033438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:4c7dcb6b-4fb3-4a70-aa0a-b21e3a65902c phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0410174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:67b346c7-fa7a-48b5-bafb-a92e2ca963b7 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0008151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:1dcfc84d-42d5-48f3-b8ad-9a064b7df2b5 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0033106 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33727065 uuid:780145fa-74a8-4034-aefa-ee7bdd5d7073 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:33727065 uuid:67aab8a9-e152-4055-b332-b6be61c3561f phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001409 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:d16caf82-381d-4913-bafb-a41d6fb35731 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:e0563e29-c355-48bb-8285-0682b4630486 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:7f65ffaf-b299-4805-b35d-08a395ee9fb9 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0001394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:06a06c02-9eca-40d7-acbf-02d24d257b4d phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:e07ff740-c893-4177-b678-a176c9063277 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:a6d553c3-3b8f-45ab-9daa-926e2ec8d27d phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_phenotype HP:0030149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33727065 uuid:0d20d3da-ac6f-41ab-ad3c-66054dd560c3 phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_disease OMIM:620796 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:33727065 uuid:507ee374-587d-419f-910a-bbf956386e8e phenopacket.store:PSMB9.PMID_33727065_boy biolink:has_gene HGNC:9546 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33727065 uuid:9dda649f-757a-4093-bc6d-29ef49816f6f phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:3576a1a0-4b82-4089-90ae-96d5b42008cc phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:17edf703-56b5-4f25-a9b9-cb282897b6aa phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:61278795-ddc7-43d6-9298-848506bce359 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:ed108578-d0d5-46d2-8761-86b4f55cb5a9 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:ea5c13db-a8fd-40bf-87e8-f3dfc10b29f4 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:f1c173a3-e9d2-48d5-963e-6b677683a1bd phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:90f621cb-e8b1-436b-9e26-6a474a081caa phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:cb95de68-afd9-4811-b533-1d184c1199c5 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:4101644f-f3c7-4db6-80e0-ab2ca7df8d15 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:38f7e4c2-1372-4e2c-baee-645b48ff87d6 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:e4e6ce45-c319-42f3-9e85-a5c5cf3b79d8 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:579c8b33-dbbb-4823-8893-1d21bcc359b6 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:8f5628f6-f38b-495e-939e-238a71ab55bc phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:bc579858-ca03-482b-9c84-d16030db95b6 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:2e19f241-6acc-48a8-ab29-a6315b8377fa phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:4c717039-d14b-48d6-bf9b-5ccad44bd3f6 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:51b210fb-4843-47d5-94a9-e2d00f904c3a phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:e3096957-a338-4ce3-99c9-8dfd81374d84 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:9f37bdf4-3cc0-4f30-b5ec-4f27e67edcc3 phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:c071e1e3-6269-4d6d-a402-476a9340414b phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_disease OMIM:617516 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:60b89587-8435-4d79-8b94-0b33e648b81a phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:has_gene HGNC:9557 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:2ab9b1ef-f87a-4671-b66c-4b23e5c0709d phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:728241d5-113b-42ea-8712-d9f0cf141079 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:96136220-5ebe-4fca-b859-0165647cb68d phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:8ade4382-4dd6-46ff-9e7d-19591b83c567 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:a4340fb7-1b7e-4a5f-8772-9a19ed0db42f phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:1383035d-6996-414d-bace-02096b082b61 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:e8f5beed-3209-451b-83bf-1616920d944a phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:2e827689-417f-4d6c-9066-c17ad9987124 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:d3cd24d2-a581-4470-9c85-1b759a6ac7ea phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:b9760bdd-0b69-4ee9-8dfb-fea8321539e2 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:ea05cbf9-de0e-46ed-b72f-69d0d82f0cb4 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:6ea2cb90-cf63-42f8-938f-ca9e91fec8c5 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:8a793f52-7caf-4af7-b711-1bdb625efce2 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:338e4522-f73f-4bc7-b68b-01506bb10c54 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:c9407523-fe80-43c1-abb5-2a8eac323d85 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:f1579f03-567a-4dae-b4ba-0abe52b39060 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:219d1776-22df-4de3-a436-a99f35c9d209 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:7a71fbbd-73d5-4066-8e59-50a82afe9d28 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:b223bb7e-36c1-46da-b186-96ef4acbdef5 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:878137b9-cd71-42ee-9e65-dd149b24a3c8 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:181447bc-6d75-4c07-81cf-964b403aee2b phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:148a94b8-2021-4688-8363-e2297b3c0934 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:5b6aceb8-4c37-4f53-847e-e47f3e1c4e5c phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:335fb9df-9bfa-4e63-b22a-327e85f7ed05 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:1f379f0b-9eb7-4c0e-bc10-f5999ce2e728 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:043fba1b-78ce-440e-b574-b647adce3a99 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:200028f4-ac76-41cc-a597-5670929968ff phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:6861df36-a75a-4149-92e5-96b6dbdc138f phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:208ff4d3-fc8a-4017-aa76-e3e57bdea5f4 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:8a10937e-4456-4dea-a50d-d892001daa4d phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:78101fbf-afb5-49e3-a4a0-645e2900d6fb phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:f83fc100-251f-4384-88c1-82ecc7ff7cc3 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:7d99f360-d409-45b3-b0e6-d7bd7b81d52c phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:f7588732-f014-48f1-865b-ca0760363fa4 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:454a8c0c-e55c-4849-bc2d-7b8c684ceaad phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_disease OMIM:617516 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:471e7cb9-b4f2-4535-adee-0db37aa02a14 phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:has_gene HGNC:9557 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:d44d19b4-f1bb-455b-b1a6-fcaf72c93012 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:536060e9-6ed3-49d1-8359-b4fa11e64dbb phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:ccb447de-a9db-43ee-b512-90381e61d150 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:455832d8-0f65-49a4-9416-4b0963d56840 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:f4e40735-0b53-48c5-8530-02855dc2e984 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:48cacede-81c3-4ad3-b09a-428937688323 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:adbc7494-c494-473c-a03d-2b043b16ec63 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:996573bf-444c-472a-a7fa-bfb0c5671250 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:01a7c94b-4e20-49b8-8dbc-ad3351d8b8bd phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:389ab835-d23d-4bc2-8094-938730feca7f phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:91f61080-effb-491c-9d9b-6b7fa9b131fa phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:d52059df-5fc4-4e8e-9ffd-26a838d389f7 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:fa0a38d4-fcd3-4985-98a8-3dab01c39c9c phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:9b1e86b7-935b-4b07-bede-398bc14a11b4 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:c4dc3653-82a7-4e91-a21b-e620cf3d16d0 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:addc947f-4d30-4010-bd9d-2ec147da2451 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:25013079-092f-49d2-b1c8-3e95f5034265 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:44901861-f253-4792-84e0-74ca3a94eee5 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:53812fe8-b4f2-4c14-8944-f48080fda7f4 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:0b5799fd-5901-47df-bffc-a420bffc05fe phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:01f14c00-28db-44b9-a587-dd4de7a8b390 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:0116299a-3f74-4fd5-b951-eb5ee57cb7f5 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:437bdcad-edf2-445d-9256-16cdd5394965 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:3409a052-7923-493a-86bd-af644ae2ce37 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:3fb2c368-55d8-4ec5-83c4-600bd43af4e4 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:77d9c5e2-7a0c-4d51-8cce-802bdf52772d phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:f67c0bb0-7037-46fd-9582-f549232fd419 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:019c7f14-5d71-4e29-b0ee-4d8aefab691a phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:5896191f-fad3-4929-81ae-6c4f70cec0ea phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:3a228b90-7853-4568-b8a1-017b347d1be9 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:191724c5-1252-4cac-8c33-839cf74eedd1 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:fd7f4f1e-0d0b-4ae2-a976-e0a8ecac77cd phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:2889f0ab-500f-4a6d-9173-3262fe374d2b phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:c246c305-6040-4e3a-a2e1-227d8b125569 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:32d7567f-15dd-46f4-9a01-7e1b7d1ffbc0 phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_disease OMIM:617516 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:75191974-799b-4f2a-b68e-7034525ee90d phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:has_gene HGNC:9557 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:a9b3b746-b544-41c4-905d-31d3b3ec1516 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:99c4e32e-54d0-4fcb-ba46-e049af658f9f phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:86f55b86-2037-429c-95a9-e57dd3050c73 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:36a19ad2-80f0-4eae-a397-27e872e9933d phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:91807341-2cb3-407a-ae9c-d930538432ba phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:5fcffdf0-d704-46a5-a842-8a062a892402 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:189a1197-5c57-4c48-bf20-efc64bf5218f phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:f3500823-b931-47e4-9a42-050a8342ec55 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:a2b3ca8c-31e5-4686-bfdd-cf8841bd405c phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:343d494a-726e-4125-9b71-5666ec5cafc4 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:72c2e165-660c-49af-9297-83b530ba6449 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:a60f8b51-4a0d-44a4-a905-22af5db0c35e phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:fc05422f-f53b-4e12-aa98-818164d8ef0e phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:7d89b675-4af3-4b70-a5e3-7275815411dc phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:f0f7a6f9-b6c3-4ddc-aaf4-6d7e6070083b phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28132691 uuid:41ebc2a3-291c-436b-b1b0-41d8710055ec phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:4434b0b6-5b2f-473d-8767-0fd7fa4ac434 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0004736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:4daff481-909f-4016-a17a-b63b2cf89a07 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:0d5904f4-51bb-443d-b914-dd26af67279a phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:c3eb4428-a402-43f8-b067-8786c8256b08 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:a115f38d-aebd-4966-985b-c52b67d37b9e phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:5b96e792-c041-4fc5-9044-b487d0f29c46 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:c3db98a2-b93c-4037-acb6-0dd440d1e60b phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:f6ea7649-9946-405e-9683-5d20688f965c phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:55759870-4695-48d6-9d44-924cef16e71a phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:d0c40fdb-b69b-4c40-8a55-6dd52f1af453 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:31d6da1c-01fc-41e7-ad86-1c7862ef43b1 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:3f2b8fe3-3e63-4dd8-9690-bab715299d95 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:285f7204-a5c9-4dba-a6d2-616c35505ecd phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:2aaac7b7-f232-4467-b54d-fa3a7ababc69 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:06d570ef-f64d-4bcc-95b7-68040d46150c phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:2c3474f5-031e-4cb6-8371-06344dd2d58c phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:70fe64c1-6452-4405-aa92-91244607ad59 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:e0eec5ce-2954-4f9b-adee-e9f700f0cc0a phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28132691 uuid:74eeda9b-6043-4f83-982e-03817344942a phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_disease OMIM:617516 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:1fafd13b-5fc1-4beb-98e9-f8dd7a8c7a83 phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:has_gene HGNC:9557 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28132691 uuid:7dcea861-e5f5-4c86-9fb7-47216e8a7671 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:12161596 uuid:d6abb9f7-2ccf-4d53-a1ee-5a65719fd973 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:12161596 uuid:61e8d52b-ce6e-4f37-b8f8-859abb1fe25f phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:12161596 uuid:7f4ca93d-92ab-497f-9e2a-3da44e0a9ee6 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:12161596 uuid:213576b5-deaf-4697-b529-15ae026b35e9 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:12161596 uuid:51902590-1bc9-4d88-877c-3238d19a50b0 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:6bdbc901-31eb-42ea-8b0d-d4daf924cbd8 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:d167255b-aa22-42ff-be8c-6187827a3e49 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:12161596 uuid:d1face3e-fcd6-482a-b862-d96c678614d6 phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12161596 uuid:0c3500c3-d8ce-4b28-99e8-6101f0d7edef phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:82ce78e2-cc91-490c-a89f-c5ec75ad23eb phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:13a684be-cd8b-492f-ae18-d0839ddd860a phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d544a421-eaba-401c-8634-2a82166c21c8 phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:f3f2a031-be2f-4ea5-b9fb-64aaab367baf phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d55110b9-f69d-4f35-8c27-3cf3d5d4f08e phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6af1899e-2a92-457e-a7db-ceef5eab83af phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9b26b805-2a5f-4918-bb47-b7cabf055e2b phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:ce08694e-53b6-44b2-a81c-650587c1941d phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:67ea11c0-4cd4-4113-8d22-1ab60e931154 phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:def18e1f-ca21-4a48-9d67-7620a22a8fda phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:28074573 uuid:d1896c5e-6a18-4aad-a084-420a8659c48d phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:818df58b-12b9-400b-b32a-ca451a8ebc6f phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:a60f8f57-05f1-4a2c-aa5b-94a20f93f548 phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:849d8853-384f-4940-9bc8-152368e44ecc phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:7050fb22-4f50-4ec7-838b-95778a79947e phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:2ea2819f-d0fb-4d28-9ead-3967719440b7 phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:57ec93d9-6d44-4260-bc63-848cba2e440d phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:7a8eb24c-6bd8-498d-9114-8447a995dee5 phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:15d59aaf-486a-4370-87d4-466c3d4aa2f9 phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:ad58298b-fd9e-4585-8959-26d47df63277 phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:32765928 uuid:7b46b654-c364-4d94-9a8a-63debd1e30cd phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32765928 uuid:eb295ddf-f494-46b6-92fe-7d4f6f85c918 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19768645 uuid:4fcddaf0-223c-461f-b77b-45f3494805bc phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19768645 uuid:f9e827f6-dfd4-45bb-9047-ec8fe5efa9ba phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19768645 uuid:3a9f2338-9b6b-4e4f-a4ce-38e9dd1e775a phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:d5e4e945-92a1-479f-a0c9-d15538ce829d phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:a36f07af-bed1-4a0a-bab3-5eb48ed8fd56 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:a57b2fe7-5897-459a-b4cd-cb77016ce4f1 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:73320a90-eeb6-45e1-afbd-36e7dfdbaf1e phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:47d6fda4-8115-43cf-9632-37b76334759d phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:37066656-3036-4ad6-85b4-e8b2bdaeb54c phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:7f1bf618-2fb3-4e55-a234-80bc9951572e phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:cbd66e31-02ce-46fe-9cd2-6d684260743d phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:9b4c13d0-5410-4581-b3bb-56f2b460ca1e phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:9437a606-9b1f-4786-83f4-5f074f6874f6 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:1cc7eb7a-821b-4832-82d1-dbaa9e56d06c phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:6bdd9c56-e414-4921-ba32-754fff78ad43 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:14b32b8b-dd5c-4950-9435-b4a91829ef72 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19768645 uuid:3f514d75-84c3-40b7-8535-46acb16170a8 phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19768645 uuid:07e8ccf7-48db-40ab-880d-e5e481bf1355 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:08b5993c-c2ce-4553-8956-9b341e01267c phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:c351dea4-e1fe-42f4-930f-f8796f89bee3 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:6d398344-0ea4-4be4-b86b-9165b7fd17e6 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:8d10a1c0-b6bd-41f3-8b24-85d81b453bb5 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:e82342b9-fe11-4552-b43a-5d3a89057eee phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:3b792114-c882-4727-b3b9-f698c4e43e9b phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:4d5865b3-ae8e-40a2-beb2-dfcb257583c2 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:889c35a9-4f8b-43c7-a073-c7824f82b480 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:7609f246-c05f-4dc1-a719-0f89f899eaa5 phenopacket.store:PTPN11.PMID_21533187_family_E biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:dcdcfa7e-a451-48e1-84a4-82f0a6e92670 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:b97630a1-80dc-4ae5-8d3d-64249a66199d phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:baf2838b-dcbb-4ee5-b936-7383de4d8c7e phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:2195999b-f51e-42db-a6f6-6a2b5a4e3e9d phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:308b74c7-5841-4718-ba87-644f4f6b4cb9 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:6b734dbb-6ef2-4fb8-b2e3-965aa1c03ec3 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:b06021f8-520e-45b7-bd25-318c88de3050 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0011707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33898683 uuid:2bb7bc05-e8a9-49ba-b59f-ab28f6208ed7 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:ad4a840a-697e-4d1b-a962-9d3ffb4c3029 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:a07bd845-f015-41f6-a2c3-27969a75f509 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:61e40fac-511d-4200-ab99-17fe6825d3c2 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:3dc1de5a-e75d-4416-8016-7035a808c94f phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:3a691d85-6247-499e-954d-5d39d6214e90 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:c0e3994b-6dc6-433b-8500-9e79441c61ee phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:6c68eed1-1c32-4acf-abe0-d9e553415c52 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33898683 uuid:964e0132-ee14-4fd6-b680-6e69a1e14ca7 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:33898683 uuid:9ef7a5a1-f542-47ed-9333-6f886a812041 phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33898683 uuid:b8782668-42a8-438a-8ec2-2e7bea6077ab phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21677813 uuid:a7860e0e-d9bb-4e83-8896-cbf442b735cc phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21677813 uuid:d8af9c87-6a1e-4401-a561-f125391dc155 phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21677813 uuid:9bf0a845-ba0d-416a-9b82-d0db5cde9b43 phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21677813 uuid:da7bb2c8-006f-42fe-9ecc-3ff6d56bc84a phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21677813 uuid:f57159e5-3e33-4539-bf07-892eec33eac1 phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21677813 uuid:968d28d2-7ed1-4c42-b531-aca1d986c813 phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21677813 uuid:15197c75-8dd6-425d-a567-7eae15e5f6a4 phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22822385 uuid:6b7feb7d-1629-4bf8-9f92-153d3919c80c phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22822385 uuid:5721e23d-b4c0-439a-baf6-e1c0276708cf phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22822385 uuid:666021b8-495d-4a5e-9c1a-82a03d402d6c phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22822385 uuid:db583f89-0561-454a-8d9a-ccff0e20c9ba phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22822385 uuid:2c31aff1-ae63-48ee-a493-56e1e1d72f94 phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22822385 uuid:f905f6b0-d4fb-4bcc-a8e2-ceaeb87582b6 phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22822385 uuid:7c07d232-85b3-4075-8b98-d19bd13e1788 phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22822385 uuid:9411ebdd-32c3-4c89-ac95-d55c3c404770 phenopacket.store:PTPN11.PMID_28074573_MA2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:63e77653-30d7-48bc-b43d-51071be5a61f phenopacket.store:PTPN11.PMID_28074573_MA2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9aec65e2-534a-4482-88a1-89a0d0f3ea6d phenopacket.store:PTPN11.PMID_28074573_MA2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3e06a7ed-8bbf-4b23-b529-24bbfadc7d4d phenopacket.store:PTPN11.PMID_28074573_MA2 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:28074573 uuid:25bc2f02-3a19-462d-8f74-6f44914dfcc1 phenopacket.store:PTPN11.PMID_28074573_MA2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:77bde131-618a-4412-902e-978b16a2fc08 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:9c48d08f-3b43-4085-ba8f-394545ad67e7 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:e0f366cc-6571-405a-8cbe-08d2eec9a7b4 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:f57c09f0-eeb2-4641-8688-31c706861a67 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:a21354fe-69d8-46ea-ad16-66659d657977 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:4ba88c4e-a1a6-4fda-9c72-8fe4fe640381 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:485c2fdc-a21d-4e20-a90d-ef16c7e6a650 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:c03c06b6-c9ac-423f-b22d-289c1485d9b4 phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:6c2f1184-b539-4c63-8501-1e90408018ad phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:715f92a6-926c-43c2-b4e9-6c7f6270a91c phenopacket.store:PTPN11.PMID_21533187_family_I biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:7c6073f1-378a-4d32-87cf-1edbef150aa0 phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:4f9ec67e-03ff-49dd-8b94-3080d83a9b7c phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:89db5423-4d16-442e-a87a-4aa0ce662222 phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:9e01a9e1-1c65-4498-ba87-28eb2667455c phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:ae31f23d-4f3d-4e25-b29d-69de3b82d087 phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:0c7ef07f-2d96-4dbf-a886-a09c59d2a2ad phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:9b5624eb-8e12-4b3c-bd42-1c5acaeadcd2 phenopacket.store:PTPN11.PMID_17661820_2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:3963a444-d9ae-4b57-a9c5-ad0b73c7e511 phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:0021dd0a-9b52-438d-bd4f-5c644f6906aa phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:129c74fc-5086-412d-9f6a-02c944b58ac4 phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:427e91af-b48b-429e-8726-ee238a60a962 phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:088a90aa-3f3f-4b89-a2b6-ad874c77f4b2 phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:acf71be4-891e-4dcf-8936-e9a82989b287 phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:15069c72-d941-4945-97b4-e63c20e147a1 phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:ea8834bf-0232-44c7-9272-bb47a3a7251a phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:eb2820b4-53d2-42f1-8936-a034dcf94d0b phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:4857056a-80a6-416e-8cb1-77121945e6af phenopacket.store:PTPN11.PMID_21533187_family_H biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:279165de-e45c-4884-902c-4ec570e63a17 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b09a590b-e27f-4e75-9a49-e1a649776b19 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:a8755f82-4930-44b1-90a2-cabe1878b6c1 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b1153e26-2b06-4275-abb0-28b16a3467c6 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b43367a8-99e2-4ca8-b3d4-25e88926178c phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:bbe3765d-770f-4596-a5c6-661e5bb5d488 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:733bf75d-0656-4667-ac8e-6dc1d2f2b748 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:c5eab8b9-5550-40d2-b7c2-5e3e1ca562d3 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:df10db63-7efb-45ec-8e6c-7750146d38e3 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:77db4331-2ac0-4dd1-ba35-98d232237002 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P27Y infores:phenopacket-store PMID:28074573 uuid:d47c1a43-ca0c-4de1-b988-c8cbff98fa08 phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:d4bf904a-911f-4cc1-b9df-3004d8c9c4a6 phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:d7cb42fa-5916-4c07-8489-0bd9cd3d067f phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:9f46ddb6-6879-4573-bb98-cd4846cef0ca phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:b00cab1f-34fe-4278-a589-c46309fb3243 phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:e35bf8ac-2061-40b2-8410-faf8a46e3bab phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:4d923091-f46c-4298-bb44-0df6bc50a230 phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:fa44ec0e-46cd-4a53-a1a4-c99009972365 phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:857c8c3f-3acb-4901-abbe-881688d4b9cd phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:8a110bad-24f1-48c8-98cf-f3ffbbfcf52a phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:9d6853da-1975-4573-a19e-779a0595ed21 phenopacket.store:PTPN11.PMID_21533187_family_B biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:0a52b3e0-377f-4e72-bf62-bb4cda10c26a phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:334a1a23-c1a3-41ba-bb34-0c300aa4c446 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:c155b207-d738-45ac-a5e6-4812687d7369 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:731edcee-a1e7-4cbf-959a-3f6b7e56a1a4 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:b902bd8f-345e-45c5-9a98-d84b1c3c52af phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:da7177f3-407d-4fc4-b03f-91b56c53d58a phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:9275c732-030e-4456-a656-cbdf0790e240 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:17df0ae7-0d75-49a1-a601-2e263cb2632d phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:7f242210-f7db-4ee5-91d8-9b0c611b3e6b phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:678a36a9-489f-4b02-944a-a1b88f4bcd97 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:2851ab0c-09ae-428d-b15f-e497f1ef271d phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:7ce88ec5-d45c-4a14-a817-c8bd0c421cb7 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:157fe0b3-e700-445d-b6a5-60034012d260 phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:5a4ee6fb-a5ab-44fe-a506-f26ccaa0688f phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:27484170 uuid:6fd23a38-2384-4b44-bd40-9392b81769b5 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27484170 uuid:c63a60b9-2217-48bf-9fed-3c8e3b06e526 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27484170 uuid:3894d7be-9b68-46ec-b62b-af5591ba82aa phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27484170 uuid:145b4948-e031-4ee9-8fee-0b56d3bdfda2 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27484170 uuid:c4a29412-ec63-434b-9512-5f4ffdf48c80 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27484170 uuid:ff4a00de-b750-464e-883c-aa292c054c45 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27484170 uuid:96cbb781-77c2-454a-aed4-4a8ab5932d42 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27484170 uuid:9f8a3bbd-6747-431f-aac8-8e9bbdd34cd3 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27484170 uuid:59b8517f-9801-4785-a2cb-73d823989bf8 phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27484170 uuid:8936f035-29df-48c1-a5d3-76db8f2f45e4 phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:a7ad55f5-e2f0-42c4-bab9-228c59cf4b35 phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:029301ee-a8c1-4577-abd3-d10be55f2579 phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:ecaa7047-5ebf-4c5d-adc2-9dbc234698c3 phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:0a2d878e-fb94-4d53-a785-88aee1e16aa9 phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:f99d0325-b3de-4e9e-a2e5-d9535ce499aa phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:56df3776-1618-4127-bd4e-6f166db98e87 phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34552798 uuid:c6952a1b-6eb1-4ff8-9ef2-c42679660a2a phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:34552798 uuid:7ef52a42-6558-4e4e-ad80-43ae512d22bb phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34552798 uuid:44eb9320-2b43-46d2-b6a9-b6fe084db18c phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:afd65010-a2f2-409e-9830-d540bca438c8 phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:8366b75b-a750-48e1-ad29-90252225bc44 phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:3e4c1a75-5059-43e0-843c-406bb71495c4 phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:b2b7adf4-6ba7-4e17-ba83-579662ca93b1 phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:7f430689-6414-4542-9ff1-629da990c4db phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:65b04699-0c83-4468-851a-6af8de17425f phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:fb72e3bc-0b50-405c-85ca-7a13cffb2c0f phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:19dc7c48-4be4-468e-8b70-0c277a036d76 phenopacket.store:PTPN11.PMID_17661820_7 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:ab4ae5dc-d5df-42dd-ac39-8c00e80cbd63 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:478ade63-864c-460c-9446-21230e202cb7 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:07df99bc-2396-4c56-8c01-13d2f89a76b0 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:4c0c7a3b-3b2e-485b-b401-a8372ab76841 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:27cc2359-94db-417b-9fef-8b2bd7195acd phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d84bfc43-d5a1-4085-888e-3b31a50b597c phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:ac504ece-6b75-4fa1-996a-cd2caef72507 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:dc877a46-c811-4fcf-967b-68c3287e3577 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:03417caf-d9ca-4fda-84ba-f5cbd8f32b75 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:2142a481-db30-486c-9fe0-b97a7515bd3c phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:76632c77-0535-4871-9a7d-2c3aee710933 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9dd6c784-4bff-4cd4-bca0-bf5ae78f08d5 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:1ff58c10-7242-4e91-b7ba-35d0f100d6e9 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:985bdca9-3838-4c49-9a3e-98a44f6879ce phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:7e59b0c3-bd0f-4b9a-9f27-7852e7779636 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:844e0796-ff48-4244-a80b-15cc18862445 phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P6Y4M infores:phenopacket-store PMID:28074573 uuid:dc2fd0b7-4b33-40e5-8a8c-c2134e57ed6d phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:c1ae31aa-07fe-4771-9641-575a9c4076d2 phenopacket.store:PTPN11.PMID_28074573_HC5.1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:8d4374a0-cb77-4047-ac21-e564f2fa5f45 phenopacket.store:PTPN11.PMID_28074573_HC5.1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3115cd28-f520-44d2-8040-0defb4c9ea4e phenopacket.store:PTPN11.PMID_28074573_HC5.1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:28074573 uuid:c333fb28-c553-4810-a2e7-ac92a7436e18 phenopacket.store:PTPN11.PMID_28074573_HC5.1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:7f96643b-d21f-428e-9cd6-2592306f319b phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:f5f5e917-8cc8-493a-a131-f790bebc348a phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:8a99ecbb-020a-4800-91da-7aa7182886c2 phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:1a47b9e7-ce30-4c02-a2f2-a1bcd6fb9984 phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:0063df79-f789-4174-9cfa-e83f72569c7c phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:6b4a2c0c-230a-4079-a7e8-25217338a2df phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:f8ca2fe6-7108-4990-af23-10b8c39d92eb phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:46bc42ff-e4f7-4bcf-af04-f5c2e01212d0 phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:e3bc71a4-ccce-49aa-a3f3-959cb721942e phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:2fecd42c-63a7-4b7d-a8a1-60ab93c06d50 phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:ceb9c408-957e-46ba-80e2-d76b9248173b phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:2cbab958-7643-4a6c-be6a-306c7b5d93cc phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:c5367942-2a9b-419c-aab1-8e86f5489af2 phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:2e79c69c-ce15-49fc-bd03-3939ced77787 phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:3d66b211-361a-4c47-bf2a-429b48832c81 phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:c94f840e-540a-45dd-8206-4fbe1eb7cac6 phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:c4925ebf-b7c4-4946-bd6d-3b889257a6a0 phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:77acf820-daa0-4fe4-a457-d21ad82e4fd2 phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:891c0f8d-9c1b-4e50-bfdc-880c55f84b04 phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:5fc2f915-9db1-486c-889a-ed26f044e45f phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:26995b95-e6ba-4493-bd29-b7e7b076f5cc phenopacket.store:PTPN11.PMID_17661820_4 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:59710f8a-2b4a-4c06-a3e1-d9826ee394c4 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:01c4209c-e275-4a9a-a010-a848c297b639 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:e520553c-6063-4401-bfdd-5f19d32ddb1f phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:784f106d-e4b7-44f8-9e08-ac8a53453df8 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:bb3d75b2-c2d5-4988-a840-cb9593d936a8 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:035b9f9f-e714-4123-8287-29c1a78e751f phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:049cbd66-9968-4db1-a480-eb900e987486 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:441ec444-53a9-43a0-9875-6f1b2f275daa phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6e369cdb-f62e-4982-92a7-f7fbc04c1cd1 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:60879c9d-c948-437d-9fb0-cd323d9608e4 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:41320fec-89e2-4d42-80f3-5fee49ad8d8b phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:510e3d68-6c8f-43d8-9e42-2a22af81b38d phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:dd536a56-e3f2-445e-9259-cf0f608b8a0b phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:80ba8be2-634e-4f59-82fc-770a4f13d8c5 phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:28074573 uuid:37017a3e-db74-4d08-b7b4-85bf6ed3862e phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:65ca9d3c-201d-4335-be38-a9724eddb342 phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:0eced614-5aa5-4157-9378-6f1b7206f50d phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:ab67ee99-c43d-446a-9b66-6968a7144a7a phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:16c80f90-010e-4a86-acde-9fe1d15c93ae phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:f0d6cd8e-fdb1-4900-999f-1bbea06ccf31 phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:c044edcc-b546-4b58-a349-117f754e1a1b phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9fe9323b-36eb-49c5-a761-c4094ab57e86 phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:28074573 uuid:c680f391-e557-4dd1-87b6-5d28d3d9d79c phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:56dd6218-6caf-458a-8604-56afc4fd4fdc phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19768645 uuid:c34883e6-f2ad-4767-8d62-4a659eb599d7 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:f04a7a46-e230-4d27-a0ff-66e5079853d8 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:219ddcfc-b800-4dba-acf6-0989b77194c4 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:e3631f28-dcf1-428c-b56c-e60c739b2f6e phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:e1ef2349-24f7-49f8-b911-ba6533a1c236 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:9c9ab7a7-05c7-4b2d-a2d0-feda55c2c9bf phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:0552df0a-6b4b-427e-97a9-d67a5297b24c phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:05bc893f-1060-419a-bd56-79bd9b82a397 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:a78d05d9-14c6-4e70-90ee-098e5e29c869 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:1a44b10d-1ba7-4f2a-9bb7-e6c505e679ba phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:ea67e42b-3de1-4831-af22-cf74a470c624 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:a2efbf57-1a21-44d8-90d9-c8eaf5522846 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:734cfa53-705c-4c6e-8e86-7b6235197eae phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:6f08afc8-2ca2-443a-9c3a-93aeb709542c phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:95609416-9bff-434d-92ef-68ea172f146c phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:f95eeea4-e5ac-42c6-8754-446b163b3ee8 phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19768645 uuid:6048c275-47c9-45c5-b38f-e6d702f04f1e phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19768645 uuid:49e795b3-075a-4765-9106-39082bc6a60a phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19768645 uuid:7fff0a54-e632-4de8-8546-671fbc9be901 phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:7e466654-d99e-4827-8e7b-7e8bd7b0c43f phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:2e53f306-f3c8-46af-9e8f-f814b9e2f9bc phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:da598bce-17f9-43ef-b066-3b71749dbdf9 phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:057ec441-9914-4d01-b071-1b7f251bd2e6 phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:82494289-0f8f-444b-aeeb-600155c25918 phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:18b14932-a54f-4bbd-9a7a-4cb29ffd722a phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:54f8daba-9ca7-4433-9d54-6b5a63b717ae phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6c233e8c-9dcf-4895-9446-7778c2365e66 phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P2Y4M infores:phenopacket-store PMID:28074573 uuid:5e100d9e-1e48-4343-83b5-aa10e96075e6 phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:31972797-4c1f-42c0-8198-4183a46f0c8f phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:f69bef08-ea5c-4e7f-9f8c-e88e16bf7136 phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:1f12eb99-0092-4b41-beb4-18ad4c88442a phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:72f883ac-766a-456f-8c50-a14e42ad3abe phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:cc6e6daf-e161-45c2-aa4d-9a756d537c48 phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:1f0e2865-23db-4dd2-a711-287540f340d2 phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:47cc6863-eca4-4cd1-b412-da77470b1387 phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:b27304b0-668d-4092-9429-90633c781f10 phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:78892350-a907-4c50-a84f-633498404356 phenopacket.store:PTPN11.PMID_17661820_3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:200c9478-2b94-443f-b874-f228c221de50 phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b95e142c-a371-41ef-a15d-93c1faf35ac1 phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:2e1bdaeb-d54c-4956-a8f5-0665d1f855f2 phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:f078da5c-3323-42dc-9ca8-1a945b907822 phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:16b5c497-0e79-41f9-88b0-d79c3c9e5c8e phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d8674a35-12b9-4391-8cc8-79d245a5f829 phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:11ed83b5-9dc3-453a-adae-23a727e1b6cc phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28074573 uuid:e6388a09-5f89-4def-8edd-f885a00374e8 phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:503f10ff-e053-417a-b8ad-fb532bbfbfa9 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:bc4d6d97-5540-47b6-afe2-8ecce063bb1c phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:791be526-7468-47c9-a87b-25aaf26b8a48 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:eb919852-2af4-4ba1-ad30-e4b66a2588af phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:e523c84d-4a7b-444e-8a53-7e2d7eed2a69 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:cb27e7f7-a5b0-48a8-9c45-560c721ee216 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:990c77b4-91b2-4960-8a4a-be726d348d7b phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:f68ff109-6ade-420a-8114-d17699a21c7c phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:2af9c487-2720-4a32-9dfe-04961cd888f4 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:0353da51-e496-40c0-a17d-60cb81a5481d phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:9c28b873-795e-4fea-8c76-683cc80a6948 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:c6110e90-3c70-427d-af18-2bc8e381ffbd phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:b0dbe94a-988b-4d02-93eb-d5a70063ef12 phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:0cfa6502-5bc7-4fea-888c-784455331811 phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:aeced01f-200c-4924-8459-6648f46ee0ce phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:0e4b0cb8-b9c0-4232-b5f3-eef08bb15aa4 phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:e208202a-04d6-4e8d-be22-9b9965c241f9 phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:f225a296-626e-49e0-8db4-6e4b89f93a19 phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:b2c38771-df9a-45b8-ae13-60d37aefe2b2 phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:69e111e0-61dd-4a59-839e-862b463fc12c phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26377839 uuid:b594403c-b206-4499-9501-1d9e71d20cc8 phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26377839 uuid:3a7088ee-1527-45e6-81da-821312eb52ed phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26377839 uuid:1463fcf4-7165-4cec-a022-b5331a7f221b phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26377839 uuid:9f4939c3-1501-4f6b-9dee-c678cf50369c phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37056170 uuid:68dd0764-b2a9-4ebf-974d-d078fb971b04 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37056170 uuid:5fa6a79c-ab96-4f60-a115-a09cfaafd7a6 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:58bc476a-b46f-4a05-a671-18eda90bb6fb phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:2707ab49-ffa9-4e84-9fb7-24415940d41f phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:9bdeb4e0-a96b-4562-9d93-697fe66f7728 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:92d089b0-63f0-4e0f-8592-9236e90bb5c8 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:9920351f-84da-459b-a79d-5a09be23333f phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:412fa866-cd09-4484-822f-65338322342d phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:89ca6df7-3e12-45fe-9029-b815842f9150 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:50395cfb-e151-49ec-8126-a9fcbbac1608 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:71be21f6-2fb7-4c9a-b8bc-5fda5106368e phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:f4f3170d-358a-4bee-8da3-62a66f98f1b7 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:bf472dde-1092-4ae1-8b4b-dc21c50bddbd phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:67690905-4ae1-4d5c-9cd5-40b3d29af42d phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:dbb23960-29f9-4f02-8789-ddd72e7b2abe phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:d12dc243-d7cf-49cf-b91a-9bc434df73e8 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:efd33f28-ca56-4383-8350-a9832cafee0b phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37056170 uuid:93f03fe4-db1c-4064-9fd4-7815646d24e0 phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37056170 uuid:c2d701cf-2614-4bdd-b0dd-1f74f83ec3c4 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:0bc498e2-889d-49f4-a345-dfb9523293a3 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:0aeb81f2-c6e7-4620-982e-7b1615562128 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:7aad29c5-14af-43f3-a27e-57e54b34e3c1 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:3f768968-c68c-4dce-9d08-61ade44830da phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:68b65650-3def-4ea4-bd96-5871b2348e4f phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:0094b919-0a69-4237-b0b0-8afb4d138115 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:be5dfe66-f7ce-4bad-9043-2b672484d125 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:1bf424f5-682b-4b41-beeb-3c7feb47c6d8 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:ce366322-491e-4b13-a019-0002cb1fccb1 phenopacket.store:PTPN11.PMID_21533187_family_G biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:dcc3ef7e-5ddc-4c71-a11f-a9133eaeeee1 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:d4532010-53dd-4816-9561-d74f403938e3 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:a9ef40d5-7f2b-4715-b5f2-cd37e301cf31 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:7fda8bc0-397c-413d-9f54-ba33ef4deee8 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:63c8b2e5-0f57-45c3-997e-892cbd99d9e6 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:b567f84d-8f10-4dbe-b414-e4c8ab57db09 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:2f3c7841-10ee-4793-98a6-556309412c0d phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:d8bfe8e0-c080-4150-b6cb-ab2865625614 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:988f0320-6cfb-49e5-a3b4-441b1179a889 phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:aca683ac-7990-4b42-bce1-95366328354e phenopacket.store:PTPN11.PMID_21533187_family_C biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:6ef39dba-2be5-48a7-8c68-0619e4c200a5 phenopacket.store:PTPN11.PMID_17661820_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:fdc2fc20-e57e-493d-aae9-b6c8f9b38f93 phenopacket.store:PTPN11.PMID_17661820_5 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:bb843ca6-14f3-4be2-b820-ddf297270ba3 phenopacket.store:PTPN11.PMID_17661820_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:0fa5b82e-186f-4f27-8ec9-2cf01bad9c09 phenopacket.store:PTPN11.PMID_17661820_5 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:dfed3b1a-379f-4dd2-86df-6613521212c4 phenopacket.store:PTPN11.PMID_17661820_5 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:ed96be2f-527d-4484-a372-cb2fe3c2bf26 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:e385ebe5-96f4-426e-8361-2c388d106758 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:3a72fce2-ff62-4219-b3bd-a7ce43f78a19 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:f966114f-9626-4cfe-82f7-d40b727b130a phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:d0381c47-65d3-42bd-a355-1da6a6758551 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:5d7ea51c-89a8-41fa-b407-b6f77c7d16c1 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:06a634ef-3c79-4fb2-a020-a591573dc999 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:b33c063c-4aa1-4630-9631-b102637aada3 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:48631b82-b543-4f43-ac26-d3e50748ac62 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:33d8658c-c97a-4a89-a473-2b4fb5390381 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:317dfa66-e682-4895-9a0c-3f0fd5697592 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:94a03b5a-466c-481b-b7ad-013c74261563 phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:693a9edd-2fe6-4e46-b44e-fce0ca2e8a3f phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:e8897b71-6e82-4a5f-8539-bf02f0acac02 phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9ac3502b-cc19-4dfc-b405-7726a94e3a9a phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:4325f299-23d4-4094-96b0-beb0733e1aab phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:a288ae39-73b5-462b-99e2-f4c5763e499d phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b80b2d34-a88f-465a-b350-3169965911e4 phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:2e1749c5-0148-4418-b9b4-6673c682a218 phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:e45280cd-7590-4aef-b376-3ed62d09abc6 phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:03b41885-5810-4678-aef4-592bc360fc5c phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:28074573 uuid:ddfbd28f-08e6-46d5-b484-012a87834fd0 phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:6f96cac9-3d0b-4318-a2ca-58c20da3d7c1 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:fcdbb3e6-1274-4b02-bca6-5090dfdd0d94 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:e8abe3be-b173-4622-bb25-a4af5264ed3e phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:0fa1f4d0-b58f-404d-be38-f7bf61a8fc4b phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:44be3732-fd09-4312-821e-a3405859f463 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:98469db2-9561-4738-95ff-445cb301fe6f phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:ff6910d6-bad8-4ec9-9bf6-53c062fe0e9d phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b231b73c-98ef-4158-bde5-ab0e7ef19c22 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3037d000-938d-48cf-ba6b-79e9feb31ef3 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:1152298d-9759-4f11-bb77-7f27c9b4c298 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:e514ea99-1d19-412c-8765-b369d293d429 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:b14f9cab-23d3-4dc6-a6de-e5a704adfbce phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:4f065d37-983a-4eaa-98c3-aefe40783333 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:f1cf7530-74ef-4a63-8b60-9bedb467dca9 phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:28074573 uuid:2383f7fd-3c7d-4101-8adf-f8a6c51b054d phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:90c5c47b-6138-470c-9786-33d6edfecb56 phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d02487af-8a49-47b6-aed4-4024e871deab phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:50bc36d7-e968-4c95-aac0-7ef6d286d460 phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:2ebd944c-1c54-441e-9635-ec2c3e67e2e0 phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:63e1a4f5-16da-4bfc-9420-1b2aaeec194c phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d53af17b-6e7a-414a-977a-a5b22c9a832c phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9a6d86b5-4cad-4010-83a6-6c957987caab phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:eb3342c5-7241-44ab-ad6e-50ac4bc783d0 phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:ffad39b0-2fda-40d5-a592-66c070bf4b49 phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:28074573 uuid:95420d7d-1e08-4e59-bac0-9cb2dade8b6d phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:9b39a94b-2af3-4c54-961a-5f32cb76087c phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:21747628 uuid:e200e02e-0383-41ba-a5a7-406a2b2827ed phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:21747628 uuid:a3d7c72d-6c50-4f90-afca-0332e054476e phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21747628 uuid:db20577c-b49b-4f68-94b3-ea4df2a33f2e phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21747628 uuid:4db944c9-e14f-426d-a94c-86ef1f4ba1ad phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21747628 uuid:6d20cfe5-d341-400c-b477-3075812a8bd5 phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21747628 uuid:4ca139a9-2fad-4e4e-b9d5-8a059171c699 phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21747628 uuid:fa168c69-e41f-4222-847c-73221be04cec phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:21747628 uuid:38c383b8-b769-426e-847d-ac8c2dfb16b6 phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21747628 uuid:1faf989f-30bf-4e2f-bb3f-315dbf42f640 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:34be09f8-2f70-4de5-85e7-6c31b7b14d16 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:9ccd1398-a24d-4763-b2e9-982cca0b141e phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:d140b822-d2a3-456f-aa3e-94eb625bfc06 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:92f05efc-1465-4c35-b53a-9bb707d7c5b4 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:f380ca1c-fc2e-4804-9d2b-db8ab239d912 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:bb4cf17a-8281-4975-91ef-ebb517901e1e phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:ea923a8a-10c2-4e70-b5ac-d41d710d06eb phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:ade0abcd-4008-4570-8f08-829fbbea2769 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:5e62d376-e7c2-4392-a903-428be53f50b0 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:fea13f5c-ebb3-4618-85cf-d6acfd63f983 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:2089e6f8-ad28-412e-b9b6-75d7ad641733 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:e40dc36a-b8a3-4c08-89a0-38aa2744fbff phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:4b98d868-b2ba-4945-8f4d-8b897cf747eb phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:0294a682-2107-4802-95ec-5e093d6535a7 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:82d4d3d2-d488-4d6f-9318-37860f22d53a phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:04dca656-4c05-408f-887a-de8f18a099aa phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:dfbaa8be-7338-4428-86bf-17ce1b5e7e3e phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12161596 uuid:1c2c10d9-5c69-4060-a0e2-83e7c79fcc57 phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12161596 uuid:5b70cc4b-f87c-45d6-8d17-44c6b4c3cefe phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:153d6cb7-049e-493f-8de3-dc7c6b2abe74 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:e50435db-7fa8-4d82-9e97-774519e94106 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:3bd8fbb7-80ba-4b74-a1f7-a448f25bc3c8 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:de35b6d2-f3e8-42c8-8f7f-96051ccc4d50 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0000635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:a1218a65-068e-4d9b-9876-40da5b3c10c3 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12161596 uuid:7016bda5-f6a8-48ff-85c5-814ed10796e3 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:72f46bf3-efce-4bdc-86f0-a99873b5e3a6 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:225e0a24-bd00-4847-b912-a418a9530eff phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:79dc039c-5cff-4e2e-bc3c-36828b2d0a9c phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:b36b9696-30f0-4de5-835f-ab1e494c4d72 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:71cfd9e2-67f4-44f6-ab18-79838af7eacd phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0009737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:01efdff3-613a-4288-b8dc-737d1accdcc8 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:47d51113-29f5-44ec-be2e-b10830d12df2 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:5c6a21fe-1aaa-47bf-a7ec-8967d47fec9b phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12161596 uuid:14958901-2184-4d17-a8c5-c2133aacf531 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12161596 uuid:1ff51b01-fd43-475b-8318-59366e6436b0 phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12161596 uuid:f1d31cf1-f00c-4a1d-8dd7-6c4d4d58687e phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3b1f52d7-3abc-49e7-aa9f-589b98f15a95 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6235a97d-8155-434c-a462-09da02e27c29 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:1e2a50b4-120d-4955-ac33-d91101faa1fa phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:12ccb7f5-cbaf-4333-be97-e19e19c46874 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:a5880070-3de9-41c5-b4a8-66ee50470d97 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d77addcc-99e8-454b-b740-eda053f84962 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:cca038dc-95d5-4347-acd5-9f9aaa43130f phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:d963e210-1f3f-4885-b20f-2c582fffd634 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6f50dfaa-db7d-4a63-9104-01bdb8928665 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0005164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:bb6a4c00-6bc6-4354-8498-ed580cbfbf54 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:cd59fad6-a6c7-43d8-b644-6f376e37008e phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:996a1ac3-1366-4d63-b85d-a9b204c6f0c2 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:8a9510d2-3a77-4a3c-a65c-29e8e518da17 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:5fcb23e4-7b5b-45d6-9052-30ff55fd5b25 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P1Y7M infores:phenopacket-store PMID:28074573 uuid:241e3a7e-1299-4840-a098-462970bb80f2 phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:4b206ddf-f1b0-4c61-b1ef-a6ad4973d1d7 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20577567 uuid:983e0113-6a11-4821-aae4-0b43c6a65ca7 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20577567 uuid:48e132f7-58c7-48c7-bade-42fa30d15a13 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:c784790f-0535-448b-8795-228d653b26d7 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:6c2fa644-ecda-48b5-ba4f-d5f63a1a55a0 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:167308a0-ac7c-4040-b04a-ffac7778641b phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:904fc3dd-a958-45a3-8e50-c809dd27e05d phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:9f420dd6-7818-48a0-95dd-b610a7592655 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:a87d2e9c-fa36-43c2-b1b1-948fa50bdaea phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20577567 uuid:09288e94-2ec9-4724-bc94-e973bb327b29 phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20577567 uuid:fa4553d0-657f-40a6-9fac-171770e21957 phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20577567 uuid:0c90c709-56d0-4279-b7b9-ef030a7ba79e phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20577567 uuid:f334f7c1-7623-48b1-8565-4848edc042a5 phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:5766f0e6-5dea-4126-9543-e76eb48df097 phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:1d99b6a3-a584-41cf-b171-96afea334c1d phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:05bde469-e893-4a2f-b47b-e0094f452e81 phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:95b659ec-dffc-49d9-9f28-38c86b1b6207 phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:570488ea-b4e9-4d19-a94b-009a04d25fad phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20577567 uuid:3896f6ed-327d-4d84-abc6-0c46833b5677 phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20577567 uuid:0680d106-98e7-4734-a113-56a3efbb4fae phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20577567 uuid:010cbba7-688b-45fa-bb41-d07a2b9f2f17 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37260585 uuid:0d6196f9-1b56-475e-a70c-8bc57fe0c7c7 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37260585 uuid:cb342cba-6891-46bd-bf21-f8bfd78b5990 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:29182c90-f577-4b65-b02b-254e3a5b3a2d phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:e3d93e62-95b2-41a1-9afd-f6f2ac5acb77 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:df0c51c4-db57-45eb-9f74-3f35900f3dd9 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:71644648-7a1d-4639-8064-d8aea9ceda9c phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:af61b01f-8fec-4737-9719-ca529d00e3f7 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:a0c3bc80-2ba6-4b35-8281-490774ac916b phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:93e8e10f-5c67-4578-84c3-658700ed910e phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:847066cd-0869-4088-b9a9-37d2578e87d1 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:c54d5bf7-279e-4906-8384-3e3e95098620 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:d01c051f-9e4a-4b7b-9b0f-b4cb57273562 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:dc9b4605-d041-4c94-ba7a-f95dd9e8d1a2 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:d9ba5deb-d51b-4bbd-8b82-3ec1d04e5d7b phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37260585 uuid:b9a922ec-e794-4887-b651-d2885fa624c5 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37260585 uuid:1e53a3e5-ccd1-4bda-81e1-c788ae0dadcc phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37260585 uuid:431b275b-2181-4cf8-bd5f-d3d083bc1061 phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37260585 uuid:602d12cd-388f-4b0d-ad37-6e76eba8d6ce phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37260585 uuid:42fa10be-9adc-4f9b-af00-cabe949fca96 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:bee9c829-b958-4bfd-9b64-12f0d9c5c626 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:5ac01668-eb4b-44af-abf4-08603353e3b6 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:7f8aff48-99ad-4b30-85c3-5f5153521ece phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:bca536f6-41c1-4eb0-93bf-dca4e1ce0c87 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:7326e36f-836b-4d3c-9b1c-10feaba87570 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:b4cb2c61-1037-4cff-be24-a6d60a6d8afa phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:285e14db-2945-457f-8082-c90bec6746f2 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:36f75e0c-fc8d-49ad-8257-8c35e90ddf0e phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:eb7036f2-319d-4dcc-978c-23ce9f5e5609 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0000077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:70adbf22-14b5-45c7-9fe4-b2c7c55d4f25 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:cecfe88e-8c8e-4188-9486-c5f25a28ce09 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:c6aeb70b-f277-457f-a4ca-a058c95dfa14 phenopacket.store:PTPN11.PMID_17661820_1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:6ab5cdbd-e59f-4d2e-ae4e-10821c430dec phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:89210515-b668-485a-8661-fe8d6f34dc72 phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:28a8ac21-97fe-4ebf-9805-b14a775e7c9d phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:81ca65e5-f3ef-4004-ad09-2bff0b3443e6 phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:e07e4cb2-af18-4087-aff1-3f97fa1b3b9b phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:874fae08-d5ac-48d6-a622-2591d265d18e phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:7847e052-4951-4a28-bc48-c684710689a6 phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9e75a02e-a6d7-43e3-b7ff-2f7a45bceda8 phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3e288906-235e-47ef-bb36-15ec879b1bdc phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:46510eb2-290b-47bb-8012-dfe7fa1ee5fb phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:4bd6ffc7-abd0-48ac-8447-7cbb8b72e213 phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:28074573 uuid:71c41a84-a95b-4e5c-9ca7-290d24ff8763 phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:c1ea9ecf-4569-47f4-8d81-876c0fa3d5a7 phenopacket.store:PTPN11.PMID_28074573_58760 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:ba892994-2e3b-49c4-be4b-037798c10c76 phenopacket.store:PTPN11.PMID_28074573_58760 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:18141229-61bb-4065-bda0-f74376281755 phenopacket.store:PTPN11.PMID_28074573_58760 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P2Y7M infores:phenopacket-store PMID:28074573 uuid:4e0e623c-32c8-443f-98e5-fb9813940c8e phenopacket.store:PTPN11.PMID_28074573_58760 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:0b0f7c71-343d-459a-a926-223eb017d72c phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:3d310822-3d0a-43d8-b1b7-8b13cdb40b1b phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:e32c3956-9c47-48ac-b159-0dc5e79a8c73 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:db3c97c7-ddc2-453e-be78-f0fccd2023d6 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:ccb787e6-87a3-4ef2-b53d-a6499a999be0 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:a895fa42-76d7-46fe-bbf5-0ea69f6a2b67 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:09e3c5b1-f4f3-4091-b00d-6c3a8bef7a58 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:5122fb7b-c095-4f15-8b85-557763cee6a0 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:2ec4a10d-30d9-48c4-b235-a50ede144863 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:9a3fa190-9a44-471a-9b30-48c89c3b4843 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:9f4c6834-0c9e-4ee6-98e9-ef245ed1af00 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:008ab6ec-c9e8-4e05-9ddd-e5b578b1fddf phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:262dfc61-b437-48b6-8ad5-a5a9d72f9314 phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:6fa53f86-4d6e-4ced-bb2c-fbf1084d7a3e phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:cd819167-1ab6-4e1b-b143-115cd28bc662 phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:2e1cda7d-843c-4a41-bbb3-aab8f0f39ff3 phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:1916523a-5031-43da-8f9f-b1046ab98462 phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:537a657c-0c53-4805-9a77-c031fab1c0b1 phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:0ff03898-8996-4d94-afa3-ca209123d66e phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:82d6d94f-f1a0-4a28-810b-2622cf0f3beb phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:d58592f7-5bee-44d6-956e-484d3ce0a8e1 phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:05f6c471-4f26-42a6-9144-0d76de488eca phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:12062861-0320-4f44-809b-7492753fe51a phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:be25104f-c145-4866-9a3e-7a8093d11e9f phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:d9d8947f-6b0f-4433-813d-f13d17acb60e phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:48a128ef-13da-4e48-b53d-f127307cc98f phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:b5e23eb6-2ed6-49c2-ad38-9940d73f8979 phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:e0720cff-d86d-4ee4-adbd-327e01efe2cd phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:29e5a656-8111-4274-b156-476c29b5b8b4 phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:793632c8-011b-4e41-96ce-2b8258e131e9 phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6e2df840-7ebe-47e3-a520-df458aaea03f phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3e95ed98-51d8-46cf-9784-3879a6a7b8d5 phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:e7c96b83-bc04-4900-9846-1ec1d33e1dbc phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:9f89a9d6-d381-4f58-9e01-56e479a544cb phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P11Y6M infores:phenopacket-store PMID:28074573 uuid:ea08edff-3559-4b26-9250-7cf12dfd78cb phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:05aa25a1-2695-4900-86ec-4ffd3b069b51 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:37056170 uuid:91d1dda1-f654-44b2-aa81-339862ea70a3 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37056170 uuid:8a611069-423f-4ca2-ae93-94fec9b2f608 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:58db3262-da21-42e0-8ee4-1ff5a3a9f61a phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:dae41b02-d747-4de8-a34b-8eb697841e18 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:ffc8d0c3-ce1f-4924-98cd-831a379fd7d6 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:d05a485e-df52-4158-8ed5-de44bbbdcc04 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:1416c72e-13fb-4b02-a51f-b2878438f012 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:dd3dc448-c27e-4367-abd5-896629162924 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:7d2d3b93-e441-4ff2-8809-53fae02d9012 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0007429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:62b92ff7-9f09-4e2e-9e86-fa8b0a26c110 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:b99436d3-9149-466a-a2a5-2432b98ddb26 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:a36e0738-2109-4ccf-8f4d-4f7f8a1f8574 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:0cde3e83-f56b-49cc-8465-0d4ba05d75d3 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:27257cb7-2dbe-4965-8df0-5924638ae2b4 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:10106a38-14df-494e-b97d-306ef6f5fed6 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:76568bf8-ea24-450e-98c9-1d78299c25a0 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37056170 uuid:72ec1137-9399-41c0-8e09-f1e583e7f3e2 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:37056170 uuid:9972c6fd-3356-4cc7-b266-5b94a1388c53 phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37056170 uuid:8123efc3-79fb-4d48-ae9b-8e4a81b7b010 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:f3ab02a9-15e0-41fe-945a-2216f7e6cf69 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:693e4139-92a0-43bc-876d-224d55070ab4 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:e7b0ea81-796c-4a5c-9b68-69918d0750e8 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:6573c9c9-b67f-4db4-a608-85d916543922 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:de4a0c7a-8401-418a-8c50-1dadda5ae779 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:97330aa1-f9d1-495e-8be1-002750c82601 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_phenotype HP:0002967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17661820 uuid:b032527e-202c-4fc1-ab6e-e140d510a651 phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:a6d67cd1-80ff-4dc9-8828-78ac7b51667e phenopacket.store:PTPN11.PMID_17661820_6 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17661820 uuid:65cb9a5f-d1dc-4b40-a7a6-fad300eaa954 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36544606 uuid:963bf6c7-f4db-4880-b6e2-c698b9b6ad03 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36544606 uuid:16c40451-fbcc-4eea-8fab-b6ebb59979c4 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0100750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36544606 uuid:25794aac-7b75-422e-ad34-489572587eee phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0002202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36544606 uuid:677e03da-7c6d-43b3-a812-9ec82571bbe9 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0025677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:7a4eb65e-9701-4414-9a81-90ff0cac6860 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:08737baf-1091-4e5a-bf82-d78532ce378e phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:7689f7e0-4445-473e-83ef-517e69fc73bf phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:030dff6c-2f6c-4415-adad-895029c8b4df phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:b4be8d2c-418d-41f2-9886-223e1aec3ca3 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:62b4a2d7-8dcb-478c-b5c3-9e5a6190be73 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:6e3ebfd3-0bad-45ba-8b0a-d2bd1c6084c0 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36544606 uuid:6e415527-d609-4795-bc56-93d0913e4a26 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36544606 uuid:77620f55-010a-4456-b484-ef4ad7736ef3 phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36544606 uuid:06378cff-ec7f-4dce-81d6-38894123f01f phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:6350dff7-56d2-4d44-ab45-2840a982af63 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:a45792e6-ee2e-42f1-9d8a-75d39ff0c0c1 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:7dc3f117-2ac8-4cbd-95f5-9acd36e323b7 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:e1b946aa-5863-4c0c-bfe1-60f30b82b2bb phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:5a30edda-6b85-4d4f-a9a2-f20c9ed770d6 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:b4f2be34-e70f-479e-ad7e-fc0b21ceda67 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:9e66b0f0-348b-4641-a566-b98b01c3a506 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:5e73cd54-18b1-4615-b629-0255aef2f9bb phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:e2248ab5-bc38-48b9-8427-be173527ce88 phenopacket.store:PTPN11.PMID_21533187_family_O biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:866e3a38-8fdd-421a-b514-1fc71bbb4fec phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:7c227960-b5c8-41c0-b031-7d386fe2bc23 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:44cd671d-e2bb-4118-9da4-c8538e1f9996 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:1b423ffc-b3d7-43c6-a164-e26e804bb828 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:cff7f2c9-ed5f-4d61-8b06-81689a65357b phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:45d1b3a5-0c78-4e1f-89a9-d1871ed781f3 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:c9a5e5cf-f1ae-4f57-928d-14d76e301a3e phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:4fdf3fab-2a58-42b5-973b-6a22c1f90759 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:cc16254f-0675-483a-ace1-56a8c32f4959 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:4414fffa-38d8-4929-82b6-6d9a4e0553f5 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:6527fe70-9a05-460e-919f-57d5f9f3db92 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:3ef6e446-6b03-4276-9fc6-d7df9f1c9895 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:f0ad9303-45b5-45ee-af7d-d8a7047b54d5 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:fa89385d-60c8-4f0c-8025-6a8a1c8f17a7 phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:b940d27e-729c-4fcc-a084-4aec2931da83 phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:53aae289-e7e5-413f-a9a6-aa94800f6256 phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:3c5970fd-f369-4e3a-bb80-36b34f050583 phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:64654519-3880-4721-9003-6a52abf12a5a phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:a36dc0b9-807b-4a2e-a8a6-558c6ee5ad6a phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:1fbcc77d-3d0a-4946-8ecc-548d3c15cb13 phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:26b2a8e2-e048-4a05-8544-a27c41777ba5 phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P4Y6M infores:phenopacket-store PMID:28074573 uuid:0582fd4d-1b00-4953-91c8-62f561e2911e phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:bd38da65-7157-45da-a054-b968651376a7 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:1689d826-6703-4260-9b7b-3019a383dfdb phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:f8c3cbc2-e99a-4660-966d-54e74910095a phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:dcabf41e-7318-47fc-ae1a-c33b371042d9 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:c74dda97-7155-476d-934d-0741d45b4cf1 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:d91b7adf-9c3f-4690-b1e6-1af58227ca30 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:052a89e8-bf7c-4a16-9c31-5b6278ab421f phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:160f1f90-d39e-4be8-a48a-36d1a916afd6 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:e657190a-820c-41b9-afdb-199db27baec9 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:5f53656e-a773-4e86-861a-87c92e42c1d5 phenopacket.store:PTPN11.PMID_21533187_family_F biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:c133bb3e-d207-4c9e-b1f0-748afe369dfa phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:2d0f987a-2f1b-4082-97a5-50caba032b9b phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:a33ea515-c97e-415f-ac3b-68835ff239e6 phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:c011ab69-0ff3-4d61-9d7e-dc96a54aaddd phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:9a011591-af3f-4e5c-8d2b-6c5c85436b81 phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:51c6fb48-0822-43a5-b46a-837baca81724 phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:06eee2d6-bf2f-47d7-83f4-562e11b7e8c9 phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:a93baf9e-1cff-4ba6-ae1c-9e1abcd40eff phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:c0c88ae2-5c5e-456e-a2da-bc1f3f936312 phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:248639ed-e88f-4853-9f2a-af28702f1ce5 phenopacket.store:PTPN11.PMID_21533187_family_A biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:2713718d-157a-4ed5-acb2-d180de7fd33b phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0005701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:6602d8c8-b3c3-41fc-9f7a-396091825dc0 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0002762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21533187 uuid:f94069f4-500d-4d77-aeac-571fda4fbd66 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:f2f26786-6c43-482e-8182-559a88e0a179 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:dfaa8aee-ac45-40b5-b76c-54acd5d4e853 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:ee144ccd-0e3d-4671-827f-4be05c4fc617 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:ad1b08e7-0b81-442f-8ff4-d4786032224e phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:c504f51f-5b07-4f84-8747-06328405e564 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21533187 uuid:a39af12b-dba7-4036-88cb-158df5d4a2fb phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_disease OMIM:156250 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:b2ec87d2-7ed5-4901-b56b-bda7b7507f63 phenopacket.store:PTPN11.PMID_21533187_family_D biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21533187 uuid:9c67a7ca-8338-4633-a247-0d0e60c37b25 phenopacket.store:PTPN11.PMID_28074573_HC5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:f130acc5-e948-4e8b-8c4b-27ea94ddbdad phenopacket.store:PTPN11.PMID_28074573_HC5 biolink:has_phenotype HP:0005164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:199ce73b-8773-4494-aa2d-2d811a020d1c phenopacket.store:PTPN11.PMID_28074573_HC5 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28074573 uuid:1131f180-b318-4b9d-b0c6-84d6b30e59ef phenopacket.store:PTPN11.PMID_28074573_HC5 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:897da9dd-59fe-48e2-b6ab-b62c8eed04c9 phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:dfb4f670-9d39-4efa-88cb-a71bd87ec34f phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:0d97e957-4947-4d33-87de-412561c52153 phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:b6948694-beb7-4cf0-a47b-49987e9f211b phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:a69564f2-e1ad-434e-803f-18308b51547a phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:8be3f1c9-a93d-4557-82b1-39bce3d37ff3 phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:dc2afd87-cc59-4c3b-ada3-1a2b1466cf13 phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:d7c68ef8-77fc-44a4-8a10-1311444ec0de phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:bbeb04d1-db74-4506-9f01-3c7fbe06323d phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:b32fda9e-7fdd-4fae-a45c-112c7864fa46 phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:659fc36c-0460-4d3b-b3bb-053c62d2796f phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:692930c8-fc01-4493-b600-db0815a959de phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:9a692c9f-5470-4ada-bed9-63dc1efc7375 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:5cddc819-f62d-4b41-820b-a1c29dabb290 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:616ef373-530c-4e64-8ea3-f06c5826c797 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:8e9385f4-4b0a-4efb-bfa6-f9d335b9f224 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:9db4a8d0-36e2-41b9-a849-6c686e8b44a4 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:dc6e9e4c-b4ca-4191-8cfe-796eb254a926 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:d06d1262-bf49-4d32-b927-bd8a194a681f phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:9a1fb695-8a47-4501-907f-a7a12efba2a8 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:52d59133-00f5-4feb-aba8-d3f6a964bfa0 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:9a25fdd2-50d4-4db5-b5fd-3bfafc9c2572 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:3954b7e7-5be3-4aba-8fab-93fb3618b29b phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:94725801-892c-4f51-b522-1aa88d41b885 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:900d4781-7c84-4b41-b209-d9c6186ae8d3 phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:ec9ead86-a4f9-4953-b3ec-c15acc52755a phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:1c77b743-79c0-462c-87de-74e07367ae42 phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:0491f8f2-1cb8-4ae9-930c-2b34ed6459ef phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:c7d891fb-92d5-4f55-aa43-0d497cb9613c phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:c4d34abe-719b-4eff-a188-0d44ed2e40e6 phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:b7375cdc-5ba4-48c1-bb1f-7703240e757e phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:00056124-551c-4051-a7ab-daeda27e11b0 phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:634c3176-22c2-4e70-890b-ba6a6dac99e3 phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:77428c30-123d-4676-b2f7-ba8bf4fac8e7 phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:32765928 uuid:40422dbd-67a7-4ad8-8dc5-23516124cbef phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32765928 uuid:13411545-45b9-4ff4-aace-e687c24794b2 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:bbcd37d4-070b-4137-9b5a-be042dd30ab9 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:b21b4467-e1f1-4314-b103-5eaa7eaf98b5 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:906bd875-c1ea-456a-b845-736eadf53a5e phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:78ad6629-a6b1-4871-892c-e5df0d127728 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:948b81cb-5c87-4a04-9adb-8ece8834fd73 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:03adc3b1-0140-43f5-8050-8f4045bdaf41 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:6d7f71f5-4d99-4089-8bd0-9e75b10870bd phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:8e240ba7-cb77-4956-858c-9b9a1d3f7713 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:2069f9a1-a434-40ab-a0eb-5fe0940c656c phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:c6e3da60-e482-44f1-8290-938c45eea518 phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:a56b280d-9af1-476c-a44d-6e9d79fa8fbe phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:10780954-d8f8-4bef-8544-4a0dbd0b4b7b phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:8336c78d-ebd4-4cfa-81a3-9be405dae0d0 phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:8a775796-01e1-4257-b85a-b040da02761b phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:a705cb84-5953-4627-9525-f98d46748ef6 phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:77660221-17f7-4fad-a7b5-bd956746da6a phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:e76df0dc-1591-46e8-9411-c4e7bed2a679 phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:56f60fc0-cdb2-4512-a18f-af62b3966fca phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:0dafab8a-2f11-4d11-b61a-ec253957cb2a phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:6c391fdb-d87a-42ae-9d57-ffdb3ee08ffe phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:c415299e-875d-4f4a-99ab-685d628a785d phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:4ba61ef5-abfa-41a9-998e-e0a750bda441 phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:0e540ab1-671b-4816-9b6d-4c121e8216c1 phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:3ad55ae9-d665-47b3-8e26-24d86502e29c phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:3cececd2-dbf1-409e-ac5d-d7f1976f875e phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:0a6a559f-ffe9-4c43-b1bf-a30807706a24 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:2d777869-4e40-43c6-93e9-f4a997bb4760 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:54cd79bf-3bf0-4ead-b328-93aae112b9f0 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:0f35d172-a14b-4e7d-afa7-506994544128 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:6c07c1e7-a758-4d37-b744-95b786783fa9 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:c51be460-9815-4a42-b30e-652cc8220a2e phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:49f25583-4ea3-441f-a948-9eb3b7283c2c phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:c79ff446-08a0-4140-b12e-93137efa8857 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:19fb988f-ef2f-453d-b8d1-2d79bec33934 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:1c56da87-4804-4b12-ad6a-a75e2a7b0d8b phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:14e99840-4e31-4cab-a709-33ed7458d85f phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:f7d89e71-71e3-4039-8903-3c0f29b01e95 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28074573 uuid:29620ab7-b177-44a8-bf6a-d9ee9ae05d26 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_disease OMIM:163950 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:28074573 uuid:6b507693-5d67-4232-a3bc-43b7ee2c0000 phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28074573 uuid:59132e42-e5f6-4bca-8dfe-0875ebc03946 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:41fd8afe-e318-461b-bd3e-ae6813dd6868 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:f19498fe-bebe-46c2-acd9-111c125c3b79 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:6fb4a134-7f91-47c2-8424-3c2db77a3582 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:5062dd8b-a6ea-4785-8409-b437a5d2b702 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32765928 uuid:47f0bf92-c6b2-4398-8dfb-40ce6f8aa6ff phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:181b2618-69f0-4b26-894e-536985ecb47d phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:c92a3e75-c189-4388-a515-c53ec55f9428 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32765928 uuid:0d13e257-de47-475e-8798-3a5a5abec27b phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32765928 uuid:f755fd12-5066-49b9-a9e4-9195aed3e053 phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32765928 uuid:7b9872ea-d8a8-494e-aef7-ed8075eb23b4 phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:da0db618-e766-46ec-bb59-e9e4bc53e7f5 phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:5e05edbd-9c88-4822-a003-7726557bd15a phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19864201 uuid:28ee757c-04a1-447c-aca4-1bfb8cb9628a phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:fb86937a-e457-4178-9f16-37e244efa210 phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:f2824661-8ffe-4b84-ae41-d504576a51dc phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:89507ba1-151d-4b7d-b5ba-9504b9977ead phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0011713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:8e058c15-86bd-4601-a972-dcf7b2db770b phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:02a22cac-5e46-4ae5-866f-9502f19860ea phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:ccd2ba72-4486-468b-ad83-fc8713d3f97e phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:9e6a8960-1eb9-45a4-86c6-c96242c79560 phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:54e174b5-9e5d-4b44-a135-e37e6613bf5e phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19864201 uuid:c1102d87-e51b-436c-9419-2be31affc2c7 phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:bdbae2a8-f4d1-4faf-921c-37081b74d2d4 phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19864201 uuid:0b0442ba-80f1-40ba-8197-30cbb2104929 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:2a1f17a6-3190-44fc-a299-d5a070136230 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0001003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:f7bd01c9-b70a-450e-b4c5-fd51066f3078 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:71d6ec9c-a416-41fa-91aa-14e42d9bcf1d phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:63e14bda-1ccf-4678-a80a-00420f40f2c3 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12058348 uuid:40b54086-f5d2-44ae-9b97-2e6e458f8d27 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:d926ad4f-8862-458e-95f0-3586faac835b phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:4cc7d1de-f1f0-461e-9a9d-0792c39c3b67 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:b3d7dc00-01c5-4582-9157-d7582344a073 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:b2cca35f-368e-4abf-9785-180facb010a9 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:fdda9cc7-ba10-4b79-b681-2a6d8786e319 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12058348 uuid:b9b227fa-2732-499f-8aec-a9b9629555f1 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_disease OMIM:151100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:d9d3231c-c07e-42b9-bb22-ecb839aa7d30 phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:has_gene HGNC:9644 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12058348 uuid:9e365995-a5e3-45f2-b389-e49b33d55a5b phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:68fceef8-bb23-4aa1-933b-263935bfc0ad phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:ba865ef8-7512-46de-80c1-c8aa3aae1a4e phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:249d6e8a-c169-4da2-a227-c5e8000dddea phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:a0d227f4-b6f1-4655-a2d5-2d1186505af0 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:1c399a84-ee80-41ad-b189-6aefa225e543 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:244bffd8-87f0-4243-97fc-ed9d708bc919 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:3132282a-9b37-419e-93e7-b87d18bf59d3 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:45be8896-484a-4727-a9b3-457434109f9b phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0002198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:b0941f5e-7a76-42e2-ba8c-51e1a3d09c23 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:c2a5dc7c-ec17-4200-9570-0aec3d3b3f11 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:7d01c167-681d-4034-851f-853543b1244e phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:1ea43d3a-002c-4d2f-a406-052449d209d6 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:f0ddfbc5-c0ae-42b9-96a6-8a74733c6e34 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:802a1106-6f15-48cb-bcb6-f06032af5860 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:0d757127-5634-45fc-9532-32a769a38734 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:54e51b31-2cda-4f73-aacf-2972cd730aea phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:7a104f20-c374-46a2-bd85-d19e0dfde09a phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:01a00032-bbd9-4848-8d3d-a1cbff07f2f6 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29474920 uuid:4c6b48eb-bf4b-4e33-b68b-0b03a1565b11 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:4a30d635-e90f-49be-9c6f-f7eec0e5353a phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:dc638bd8-6ee0-43c7-abe2-80f6259329fb phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:c8d104a1-c483-4a52-9b3e-df0e285641a6 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:98b1c818-7977-4a2c-9610-ae3888914f36 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:9b858b77-9de9-4999-b04a-10c893d7d2f3 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:80be9538-205c-4850-ba47-92f710140c52 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:de14df6e-bb99-4e7b-a7ec-c6b13b3d3ce9 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:af45b1af-1632-4455-b78c-d7a35b7cebce phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29474920 uuid:f7e94ea5-b9ef-402c-8b82-462e9670e4d4 phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_disease OMIM:620719 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:29474920 uuid:9e663378-ac98-46b5-8022-d26aac2da2ab phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:has_gene HGNC:14957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29474920 uuid:ced486c3-ba97-46d2-8a24-ab68352354b6 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:35386260 uuid:de8bf1c8-9594-47b1-a918-ea1a3b88b6f9 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:d8878799-90a1-409f-ac3b-3b0af78a6fe6 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:4fdf635e-b5a2-41f9-b258-7ac705d1ba7a phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:0a6255f7-a099-44a1-ad15-c26c1accfe47 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:592bdf39-db41-4056-971a-e82a2d4c8d44 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:39e43b53-4af4-4ee9-acc9-005383c8112e phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:e6a229f3-220b-47f1-ae23-aa0d681bc16b phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:3dbb1619-d9f9-48a2-8988-6475bab7363e phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:2feadf02-f026-4ec2-9d19-fb2102781fb3 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:4abc1455-6242-4cb3-b5e6-0e329d5ac224 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:866c41df-aa25-491f-969c-eafce75382d1 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35386260 uuid:b438d430-ddb7-498b-9d82-ac82f450a037 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:5e7a004a-360e-446b-9184-500a1c6dd7f2 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:384f3bd2-781c-4b50-ae98-24350fd906ca phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:e37f400c-b9cf-4971-b271-63120d684cc7 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:eedcee94-1e32-4d05-b937-e433a7a42081 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:6eb4877e-30e9-42eb-b640-fad195213ccb phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:c7b96db4-5202-42e5-ab2c-c71f29e9c85d phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:0e787445-4dde-49d6-a3f1-5fae5a569aa5 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:2db396bb-2d87-43d9-a579-771360ab18e7 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35386260 uuid:ae035a3b-4035-454b-a4a8-4f6bb949a392 phenopacket.store:PUM1.PMID_35386260_proband biolink:has_disease OMIM:620719 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:35386260 uuid:ec955dc2-8927-49b0-9275-2ea6c2fde59f phenopacket.store:PUM1.PMID_35386260_proband biolink:has_gene HGNC:14957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35386260 uuid:d153c7a2-9d3f-4cc6-8676-8dadee93a0c1 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:18070c98-d19f-4885-ae45-31db03570049 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:19b38024-8336-4275-be0b-b9f284a450e5 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:9b7bb065-a774-4d46-b1f5-9d9dac4cf00f phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:eaf4291a-3da4-4ec8-a01f-c637de68c914 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:32676c0f-42c3-4263-b14a-720a0812a3d6 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:6bfa324e-63a3-4cd5-a7aa-b1cbbd0f5e51 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:11f8d05d-378e-4100-86cf-eec80fa1e85b phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:13d35faf-e4d5-4ea5-a896-161cd529e45e phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:5d81e25d-49fd-4539-bf23-b0202f16d817 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:d085af08-9ba8-444b-be92-f880a65adcc0 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:b2dbe99d-2679-4177-bbe9-180d63e2e22e phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:694cb024-0237-49c1-9ab6-3e042b5e4650 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:620e7d7f-98e6-4002-95f0-c8c4b72f7a89 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:22831667-f7f9-487b-bc12-8217ce6666d0 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:1350c4b2-a4cb-4854-98a2-ec1e368ba3cf phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:ea623976-37e3-4446-9359-1bb6f8c3cdcc phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:d4efdcc6-5a03-4862-9787-64e74ee1a73a phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:dc47f330-0963-4974-b54a-dfbb114a56c1 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:4d371f89-5f76-4e2b-bdb5-18935ce71b16 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:080a64fa-3530-4b46-8327-f56cd547e536 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:b585e116-e085-43a8-84ea-06d57f557a93 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:98337133-62a3-4e08-a298-b34695b62a5b phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:c4fda7d0-9e89-46af-aa40-d20841c962a9 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:afcb9e72-3c64-4fa8-88ae-3dd3bc0caeb7 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:9691b491-040a-41a0-a803-7a0f8416b1a0 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:757c6860-b64f-4b2e-92d1-6ba76ea18af9 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:02d192df-6b43-4401-a691-ef877ac8b6c6 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:e880590b-550b-4bc3-9dff-ae885cdc836e phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:214ad28f-af5e-4480-a8e6-2ae0d0041794 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:a732d835-61c9-4d38-bf34-06f243c534d2 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:8d22b6c1-71a1-4b12-b5d4-5f18451ad563 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:4ea8ecaa-e6b8-4da9-9197-38780b900b9e phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:c648180d-ceaa-4aab-ada1-dd9fe159a5c9 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:ce6b5c77-78a6-494b-aca3-45daf087edf6 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_disease OMIM:620719 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31859446 uuid:1d7cbc1e-800a-4dcf-b0d5-9b4c710cb070 phenopacket.store:PUM1.PMID_31859446_first_case biolink:has_gene HGNC:14957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31859446 uuid:afbe893d-2513-407f-ad50-795a776751f3 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:3046c135-7471-4718-8664-8b44eaed3779 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:a57a9eee-b3ae-4c93-9d74-94621083b5d9 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:8a4c486f-38f4-459b-b1b5-7dfa5e125f47 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:d65998d9-ef1b-4ee3-a8e5-c01ede637c8e phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:e58cc2b0-7243-4eac-99fe-eb6735cf1fbb phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:1f8b1d9f-935b-4cd8-8652-434751f26995 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:7d362064-136a-4239-bc96-23d94b14c088 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:511ad377-2c85-48a1-a817-2882cf591e54 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:2cf91124-c3a3-4601-bafd-f1009df6c760 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:7ae8449b-caa4-499a-ad48-e2f249d28720 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:3b09bf44-7819-477a-8220-08e8fefb7b9b phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:c703e4a6-ce84-483a-8244-25b11e4105fb phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:6bd9a715-0ba9-4619-a7ad-c2ba9d1f526d phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:2631152e-84fb-4f0c-838f-339e361b729d phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:9236cc5f-94f7-4348-bdd7-261638437e9a phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:9fbb1737-f018-44ec-afa7-bbc1d2866f82 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:a41b10ea-2e57-4001-bb70-7588a83853af phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:c09ab85d-c852-40d6-ba17-30076e9a35a2 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:6ccac9fc-c9fb-467b-b307-894dfc43679c phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:f8699d26-e81c-4963-b89c-1ebf388ef3d5 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:db16f1dd-0907-4b0e-a921-276b28678d6c phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:904eb8b2-5cdc-42d7-87ad-ad0380a71251 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:9dff52e2-930b-4f6e-895e-096bf27b4fde phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30903679 uuid:e2948c4d-5264-41fe-80f8-4805353adaef phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30903679 uuid:a041b3b7-10ce-4def-89b8-b9f3f5970cff phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30903679 uuid:8393bd38-998e-4557-bfa4-4431044adbe3 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30903679 uuid:77703d43-21af-4139-8022-364f9a00a246 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30903679 uuid:1599f9c6-5b18-4458-91d9-0321995848ac phenopacket.store:PUM1.PMID_30903679_proband biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30903679 uuid:1b537acd-1f61-4f71-980a-11b1d793e4cf phenopacket.store:PUM1.PMID_30903679_proband biolink:has_disease OMIM:620719 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:30903679 uuid:205db74f-e5cc-43ff-9228-d73075382635 phenopacket.store:PUM1.PMID_30903679_proband biolink:has_gene HGNC:14957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30903679 uuid:ebab7988-8c51-4d83-af80-4d7e12f60e50 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:b17c714a-0274-4447-bca2-6f74ea79f4b8 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:3bf5a47c-02db-4cf7-98cb-d3f8861d48e4 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:b0cb4858-1a81-4456-9e2c-b5b12d227c13 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:f74ce1fb-5a7a-404b-82ce-b5c82d4f1050 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:7de1cc7c-eeac-4c4e-a26d-d6c28255d6ad phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:fe5aba22-297b-47bd-b8c1-2d8a5c4b0273 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:ae7e4076-af29-4fd4-b3ed-40a2918b9a04 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:bb39c410-0d04-46e2-a28c-14102fbd59f4 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:7b50bbb3-7bb3-4233-81c8-8356401c3acd phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:0c9fafb8-2d91-4c9a-8a17-0881392cc848 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:f2c8ead6-fde6-404e-8445-9a9224c45c61 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31859446 uuid:c733e8a0-d29f-4a84-817b-ea76585a5d47 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:ff248502-f007-4f27-9b3c-f45d88dc0eed phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:b12635a6-8458-4e04-9a4c-fa5b789f76a2 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:48f74b35-a0ba-4383-86d5-23c0d50ae3ed phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:1b3d614d-27f2-4b6c-a0bd-4de0d7b60b58 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:d578c843-cb05-4ea0-bfb7-cc61a4859383 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:6700cfae-03ab-4781-8f10-c9111a5376ea phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:e85f18b3-bb2f-4770-8f28-af06adc15b09 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:c5ffdcea-d3af-4dff-a48e-20ce5dec4130 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:9f3640b8-1c8a-44a2-b8aa-22a059127018 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:03d1bbd0-69ea-424d-9b8b-2963944ae8ea phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:3d227662-769b-4f4d-84ed-d57f2099cf07 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:2657a5a5-08d6-4922-9630-5a75943304a5 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:87b2d1a1-cd74-4584-a9d1-2944cc3a9b3c phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31859446 uuid:408f6ef4-4f32-439f-ae75-09a083364ce7 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_disease OMIM:620719 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:31859446 uuid:69e870d8-4050-49a9-9564-7e14d8639a95 phenopacket.store:PUM1.PMID_31859446_second_case biolink:has_gene HGNC:14957 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31859446 uuid:72f19da7-a42c-4d1e-a24d-fc0528012f42 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:6c33a0eb-5bb8-4ef0-8848-6f5e9496fe52 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:c39ceb90-f9fd-4732-865a-859b7a275056 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:6b34d80f-0b29-44a8-9882-8411d36e5d13 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0007392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:1e5a6e2e-a45c-4a5c-bb81-c8121346b01c phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:0c4a6eb9-a552-4ee7-b08f-6ca1f20b04aa phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:9ceb540f-2649-4af4-b2e4-a83e39d5ad42 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:742a4948-29c5-4709-9ce8-ef1b3d27e1a9 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:c40830ad-fda5-4149-bc53-5e4d47a3e957 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:7d319f96-cf32-49a2-a270-5b64e0c549f9 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:a9ed14ee-1fbd-464e-b277-be393ba3bf69 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:30ce627c-43ad-45fc-b071-8000b1474da6 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:f1743caf-70ef-4444-b6bd-196251001e96 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:13192602-a6aa-438f-9d3d-0759c0f0708b phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:29d609e8-14ac-4185-b31e-a133a1f4fe45 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_disease OMIM:612940 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:91286639-5976-451e-8715-c415a0053dd0 phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:has_gene HGNC:9721 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:05c2c498-bd95-441d-ae92-1ab0c84b95c2 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:7eea241a-242d-477f-bc79-099565a730b7 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:369a92b7-3d1c-457a-ac8d-1c5b49c097df phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:e330f1ae-c3ed-478b-80b6-fb4e39f74a52 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:09eb1a6e-13ce-4a10-8023-6ee3b16718f2 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0007392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:a7569944-3385-417b-aae0-afcc82ff26b0 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:e9e61685-1e5c-46d6-83e9-6befca4fb78e phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:3ec25d48-59d3-4c7b-9ca0-7bcd0109e6f3 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:6f31c609-e8b6-4e05-b881-abdf281f9765 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:0eb41a53-e384-4280-b0cd-9eaedeebe729 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:f4e8cb08-393a-4e3b-b296-6e25a81bb64b phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:e4e94055-9ed5-4a46-a23e-5c13834793a5 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:8c7f50e5-9fc5-42f3-b168-755598372586 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:22affc0b-975d-41ca-be52-324443f0948b phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_disease OMIM:612940 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:36fedeb1-ea8d-4572-af6e-bdecc44ce2e9 phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:has_gene HGNC:9721 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:9711a383-a7d3-4675-a92c-653def62cc82 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:474dce1c-1356-4b29-b7d5-7f4848e32a09 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:2d6c39b0-1a1f-4a19-9100-b21fe6944e81 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:860e5fe8-a523-4c75-86cb-4ce2f470815a phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:d03a79ba-218d-4443-b1e0-f18cc0aa76b0 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0007392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:5c0c67cc-86ca-40ce-aee4-675fe146d9a2 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:3e5cc2f0-92c7-467e-b60d-3ff58e5f7019 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:4408e81d-41ba-4e15-8f43-1c5ee672cbc9 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:6dfd9c36-dd88-4d26-b8f1-8762cd44c46f phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:894cdbed-c6bb-4189-997e-b78b68d2c133 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:5275ff06-5610-4e4d-8935-9203adc9952b phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:c2383a3d-5a30-49f4-8465-1729522dc56d phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:a43df9b7-f40d-4483-ab9c-8609c0296608 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:7a0b0c65-c363-4eaf-9e99-9a4983fa3805 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:e69c50e7-6672-419c-89f6-8b25b2427bb5 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:40bdb526-4d59-4c24-a9bf-70d3cc1b35a8 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_disease OMIM:612940 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:ee833a90-15b9-41cb-b4d3-85c52203b6e4 phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:has_gene HGNC:9721 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:4f0d2be5-bf7d-4fce-885d-59649a3c0ea5 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:79177e40-be2d-4216-bfa1-e7128df459d1 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:fe1f5d00-56de-4331-9ebd-2c38d84afd5d phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:b9d899f9-f3c1-4343-b1d9-2f153d23421b phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0007392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:d850d4ff-9a5c-4a73-9621-ef9224af3b82 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:4980843c-5bd2-49b7-aa3a-19f29c1fbcd7 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:5c32b421-0985-4a08-8b31-69ae6182e8f1 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:9637c39a-18aa-4330-b4a9-210216f9a20e phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:bcc06abd-2980-4697-9516-cbf635d5cbe7 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:569eeaba-f0f8-4a18-b4da-7bef53e4da70 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:6cd28ab8-51da-477f-a848-e9eaab990f6d phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:377138f5-4a91-4c1e-8c91-52cf31e765e2 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:8fac9456-febc-4d9e-adb2-54717211aac0 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:6d876b6e-f0d8-4a50-9717-9989423026bc phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:21487760 uuid:003b5c61-93b7-4dd5-8196-31b716e0340f phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:e2cb9a52-0339-42af-8233-c9c69695c259 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:abcf3971-1bb7-4f00-9f2d-8b6a442695fc phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:9d8377aa-73c4-40ba-b2cc-f5fb1593c802 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:d84ee971-42a7-4f27-bc67-9d05fe9e80e8 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:67eb0994-86b4-422a-a34c-4122b27083c6 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:b15094fc-70d8-4a91-a8e4-317d05cb088c phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_disease OMIM:612940 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:82d8ebe4-2917-4a54-af69-c4e05a7743c4 phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:has_gene HGNC:9721 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:e9eb5933-d753-42b7-bc0c-976b2db712a7 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:99e2b981-8e94-4df6-b257-3715da5b06f4 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:2b84dd8d-f740-44f1-841d-c9a6012ef04c phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:92174250-2723-48ee-bc58-a39ac352cde4 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:19643159-8c56-4f73-a9e1-332a144ffac2 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0007392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:ddd1543a-588d-4733-bae9-f31639341349 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:eeb06a9f-b2d3-4e3b-8968-dc364b989476 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:ca8314ed-fb5c-42e3-b3be-1d1682e9e9b3 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:2369190a-12f4-4267-8377-46498752392e phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:be986c83-63f8-41cd-b29d-14119411e6ab phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:4a10c323-3fbe-42a8-9862-8b6f8d76fb48 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:cb386121-3e4e-4fab-8e0e-a439b2251f16 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:977ac20c-a71c-4e7b-adb4-7d80df856922 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:96a9f895-c855-400d-add5-f98fe398833c phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:37e21845-6498-4068-ba40-105de0d08939 phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_disease OMIM:612940 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:3520538f-607b-42bd-a173-fab10afb740c phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:has_gene HGNC:9721 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:4bd6cca7-f355-4cbc-9114-e8804143af31 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:cd494c95-71ef-41f3-ac65-fb5a6d092697 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:082470e9-8ed8-41a1-9a04-d5a9a4967aa4 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:90dac760-ff9e-45cd-b215-240512d66b49 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0000963 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:8d7011bd-0ea2-4af0-a278-3b25b569bd49 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0007392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:1b70fb0d-abf1-4461-ad8f-875dfd5846d4 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:b0f50972-20cf-45a8-b152-2846539317da phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:06ed9615-206d-4aaa-843a-9a21c4b6cd10 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:a0d39dcb-ee17-4204-9cfc-8d442fcefcf5 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:4955070f-fd9b-48cc-9583-bbe9289953b8 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0001374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:e1e2461c-fe9a-4a8a-a7cd-9ed77daaa86e phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21487760 uuid:59288dc2-8223-40cc-b3db-06160f1f1d5a phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:819ad2fb-1b7d-4a90-824a-c351504e948e phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21487760 uuid:68ffffb1-9678-443b-988e-cac68c0990ff phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_disease OMIM:612940 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:c2a09d7d-e823-402f-8818-67a69b8b23b3 phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:has_gene HGNC:9721 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21487760 uuid:1025a915-5098-4dcb-9d29-d7f7a240dc73 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:7edca960-a6a7-4663-be9a-eaa514f9c434 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:7a477b49-d1ba-4afc-9b45-3a38e072cf9f phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:374b9c65-9ba3-43d6-a951-704142095080 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:2cc9b3d5-751a-4aa3-8854-6142161096fc phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:d9024a7c-06f2-402d-ac19-f4ab271f7c7e phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:f3667165-ccc1-47b9-b103-19ec46285493 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0012852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:54aa36ea-7016-4fc2-a34f-67bc485130ba phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:39bec28e-8514-45b8-9a01-a617ce7f2901 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y5M infores:phenopacket-store PMID:28984260 uuid:e460f318-75cb-4e34-999b-79ff43021319 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28984260 uuid:22547aa8-9501-4540-aa68-7453c062dc31 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28984260 uuid:05b70c43-b279-4c1d-b805-0203d7300f86 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28984260 uuid:826f7011-c075-4c66-901d-02db284015ff phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28984260 uuid:2d2e0ffa-832d-435f-ac38-c2d1607b5b1b phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0001892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28984260 uuid:ccebc301-3c92-4dcf-9651-793050924cbb phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28984260 uuid:c2916f26-efcb-40d4-97a5-58d38e068d15 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28984260 uuid:707a052d-f0bb-438b-9127-dd93c8bbade8 phenopacket.store:PYGL.PMID_28984260_child biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28984260 uuid:9f15a337-4a59-48f5-98c2-69dd63af085e phenopacket.store:PYGL.PMID_28984260_child biolink:has_disease OMIM:232700 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28984260 uuid:3498a5d0-866c-4c81-bd94-fa3db5d52302 phenopacket.store:PYGL.PMID_28984260_child biolink:has_gene HGNC:9725 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28984260 uuid:04f8322a-f4af-4897-9b5a-2d3338c46bde phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0006159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:0d70c7b6-0600-4adf-b0e6-4946779b752a phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:e563724d-8771-416d-8c40-151fb3ce425f phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:18d39973-ed36-42a4-955b-df952e75ca1f phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0010112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:e09c3284-d4f0-473a-a434-268ecebd85d3 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:80116496-5d55-4259-8068-96dc337bb04a phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:f58e6a00-30da-49d4-aa6e-3ff167f978c8 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:cd515505-7217-4e89-8ab7-184268f62752 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:faf5ad1c-41c6-48bf-9253-b37fb5ec7b5f phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:f1cc725c-4bbd-44f9-99df-4ddd60feb72b phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:d74d8ada-22f9-449e-abd1-f7a65841006e phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:94b2f9ed-3905-4501-b994-d05d73ef40c6 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:9b0a6c56-3937-4cbc-b179-4bd115581cf3 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:37bc40ea-256f-4c43-b3c4-9dd8f4dae128 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:d7dc95f5-0942-4c7e-98d6-b5ece3e40535 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:c38d457f-4681-45c7-babd-be21d7430e65 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:c7bd2cc2-0ca3-4fb4-8d6e-58e4e7e2dcf1 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:4db36a9d-1cab-4f13-ac3e-4e7cd1db97e6 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:4ef3c91b-794f-490d-94a1-99aa883e329b phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:d01f8a79-d1b8-457e-a040-edd8460d10da phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:77382bec-bab3-4d9c-bd94-d5ed56e7deec phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:a4a0d9b7-d236-44a2-9e72-5e02e3ec78c1 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:feb36ad0-5c1d-4f36-8354-c4f025c199a6 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:ef69b14f-bd02-46a3-8e44-14cef0b9dc43 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:01415407-97ef-4c69-8049-ca396633e8b6 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:9272e701-d3a5-4220-98f9-8e87e019c360 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:86b2a2a9-ac10-404b-9933-55b669178951 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_phenotype HP:0033183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:13303f9e-ce9a-412b-a87d-8b399416bfc5 phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_disease OMIM:620718 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:fe821c07-755a-48c2-bfc8-bde0c0ec697a phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:has_gene HGNC:16519 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:3e6af3b9-8ef0-4db9-ad2a-43a5bc6700fc phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:964fe3df-c782-4b86-98bd-89109b7d8979 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:1ad9c2c5-eb4a-4ae9-8208-540a57649b3a phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:ce211e20-0d4a-47f6-b308-55854b519f29 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:4135655f-71d8-4dcd-963e-2098df40beef phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:3d7a1460-8755-49a0-87cb-0c020487f89a phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:77111711-0bcc-456b-b6b5-55e8288a53b2 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:be7530f6-7a8c-44df-b483-c124ee424e75 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:c878792d-3f5a-4039-bc8a-a7f8b71f2bca phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:e4b8d498-de80-42a8-9176-c419ba3c4f23 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:30274b1d-239d-436d-9a16-58c69c7177c8 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:9f32a269-1757-4c3e-995b-0a6db2059748 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:cbd89957-b11f-4ee4-9421-f0dcc33dd6e5 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:1d25666e-270e-460e-b0ac-c81c7067c8a4 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:ac648c7d-c476-44a5-93fd-3c0c7ea7ea95 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0006159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:014941bd-fccb-49d7-a686-49e0a67ed47c phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:3b8e8301-ed25-476b-85fe-84332cba12d9 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0010112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:3ef46561-a7e5-4b49-a649-edabca21227c phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:d19f0db8-319c-4b51-abdf-2dddce9ea435 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:46b964ff-67e8-419f-882e-8b1d2139ae4a phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:4a10c9e6-f9aa-44c1-8129-65b1dc5b8b24 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:8d809c06-2959-4360-8904-9793913c22d0 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:2dec4368-df54-4c6b-baf6-51ff8e128dcb phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:84d6a8b1-445c-439a-a4cd-ebdf0c8d987b phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:bee8de05-7de8-49e9-8306-73a9e2ac31e6 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:2838e7ee-7000-4e64-9a6e-a36fafc35b10 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:f4eb40d0-01ec-4e69-9134-024a82c1e1fa phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_phenotype HP:0033183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:0a0b3f85-83b7-48c8-aa6d-c29045a92d89 phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_disease OMIM:620718 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:d79a34be-e54d-4904-890e-1edc347640fd phenopacket.store:RAB34.PMID_37384395_F3 biolink:has_gene HGNC:16519 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:ae663c3c-66de-485d-a728-726836137f09 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:767c39cb-a883-436f-a29f-4d26c127617a phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:a0d0f98e-d535-4756-8705-d86644495e76 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:3c58f0bb-0c04-451b-9a0e-1c6ac3d1a242 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:5539922b-9a9d-4cb5-a15b-91560362b5a0 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:509c8a4e-d51d-4b71-8729-a43eb68b7650 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:3344ed22-1369-4991-ba13-dd9e9192b1bb phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:9cf81e0b-5fd5-44aa-8ca0-0632592a79ca phenopacket.store:RAB34.PMID_37619988_nan biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37619988 uuid:04df0a49-d1f3-4e4b-83fe-1db3a8986bd3 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_disease OMIM:620718 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37619988 uuid:f5105105-fec5-415a-b5b5-256b7b259867 phenopacket.store:RAB34.PMID_37619988_nan biolink:has_gene HGNC:16519 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37619988 uuid:f1b96550-fffb-4488-a89a-e6f3711b95d6 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:e5c15a77-3b6c-48fb-9f08-c585b18ccdc9 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:216fe6ef-b6e1-4648-8b01-3a15772c2f37 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0006159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:325195cd-e2c0-4587-970a-2e5c86cff507 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:b33cbed9-a6aa-4570-99ec-b2b514d5a20c phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0010112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:276812f3-2af1-408b-bce5-59529f9fd72d phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:50ff97f2-2eb7-4c24-bdf9-431aac8dfc79 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:e05f08c8-e1b8-4293-ab16-7995203ad176 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:0633b1ac-e11d-4059-a25f-1b6a0e98bf7e phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:4bc582b3-5b4e-4a6d-825c-efd7ab59b665 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:28533dbe-b539-4918-a7e7-d8d131ca7710 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:c4bc1b41-0bf0-4cc9-9004-6f883aed30da phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0033183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:9a0f6bf4-fb62-45bf-8f19-aa4645deaa83 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:1aa14037-3b31-44aa-9db2-3d87d07c37f7 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:d754888f-9256-494a-a7b1-4484397eb4f6 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:3ee3d9ff-1983-453c-a54e-ae3f9d112e48 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:a251c6ae-a7b7-4077-bb36-554e0564d17e phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:84df78ce-3038-49c8-91a9-c7e36c1ec5df phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:af13ce7b-afb8-415d-8f4e-1f6f8c249ed8 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:cb544c29-2482-435f-ac63-0329909852fd phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:5dd66285-429a-4e17-8dc4-04eb84559a52 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:3efbf6b4-675a-454b-8807-0880c4440b1a phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:30e4a69c-864a-45d8-86df-698e4a2d5e54 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:2fdb624c-0e66-414b-9283-a70ecda0b334 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:60667a7f-b1a3-40a9-a2f6-2a3746ccc9f6 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:7da26013-6c18-407a-8322-ff3a0db5c4ea phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:9d101376-e571-434f-a5fb-afade7547d08 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:f349951f-8283-4e6d-8af4-a68b85df42d6 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_disease OMIM:620718 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:841bfccd-425d-4319-9656-ecfd351df1b4 phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:has_gene HGNC:16519 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:9d97fa09-66e0-4673-a456-c2d516910d9d phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:e069e338-a73a-4971-8361-4195178abf26 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:80b7c0e3-b55f-4f87-95a0-1e5791d2e0d3 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:f7fcb013-13fc-49ae-bfb6-069850b129e5 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:94ed394a-77dd-48cb-b103-a4cc3bfb139e phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:9150ec0a-7232-4058-be47-843d8c372b29 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:c5f54180-6d66-4011-bd1f-cb7c65fff65a phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:4ebb152c-18e8-4d9b-af9a-4bb7e847b6d3 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:9d2a8d8d-2eae-48ff-b2bd-53fc314f5af4 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:49642f21-921a-4f5c-bb80-5f4e3d30e899 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37384395 uuid:0b397bef-7058-4243-84d1-8e3cae3b0da3 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:44889c62-cb26-4549-97b1-ff6d204be7ce phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:3c367b32-31f4-41fa-968d-9f74ed2239fb phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0006159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:3a50dbf8-1b4e-4d82-a79a-c7a02c0c0acc phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:2853b1eb-a517-4695-92e1-a048712ce649 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0010112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:56039b7e-9555-498c-ae9d-118aa3ea2adc phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:27309051-6326-4652-8afb-55f59224a7ca phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:e545696e-6e5c-4ca9-9d93-1fac92bce502 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:f5b65f7b-2824-4956-b009-2ac77e0dd611 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:39ca68c6-5fab-4286-9de4-0e4ad3f0db12 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:8903a29b-db42-4462-870f-617e05ec659a phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:e154d20f-fde5-4a6f-89a0-4a4d09194052 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:d545fcbd-9b7c-42b7-9ea6-b04d94abbd57 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:5a083d65-111a-49f4-a0c0-f0ae28766cee phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:08f909db-e0ca-414a-8e03-1b486a31981f phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:cb71fed9-3b39-4bae-bf63-02ce1948bd2e phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:32c4f19d-62b7-46c8-9dc8-f87f10f55a74 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:4a2b449e-999d-405c-8c1f-1c293e913ec6 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_phenotype HP:0033183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37384395 uuid:534b250a-bd22-42e0-af9d-8f4214a2ca1b phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_disease OMIM:620718 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:0483377b-9cf0-42f1-a1a1-b48c27b704e5 phenopacket.store:RAB34.PMID_37384395_F1 biolink:has_gene HGNC:16519 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37384395 uuid:d966a102-8f4e-4f3f-9bbc-78c28ee6b845 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:4295589b-6cff-4b78-8b4f-20ae411c8e2c phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0032509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:b7e81455-0395-4110-9622-1edf6dfe8abc phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:4c9baf87-df94-4547-97a1-1e1719dc33c6 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:df9a8cf8-cefe-4972-a9cb-06851680b0a8 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:83ebcc05-5c8d-4dc7-86b5-956f1b0a42ab phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:c6690969-86d2-432d-a7a9-788f71694af1 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:40d5dc68-47b2-4013-bb9c-b30eb2ea87ea phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:a40c6956-7a31-46b8-b47a-102258df45e0 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:1c2de371-c224-40f3-ab6d-2039fc601abe phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:6a67a974-1495-418d-b88f-fb954763f492 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:8d7cff0d-8389-43ab-87f5-01e1e7e27311 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:74d68ecf-38af-4f60-8c25-e26b384fadc4 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:0612818b-ee3a-46cf-9d6e-bed2fee4ea43 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:c3412abb-453d-42cb-8630-fa2294ba4357 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:6e828e26-801f-4b7f-a027-9171694b483f phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:be436b2b-d808-4955-a406-b01686b7fada phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:03a077ae-3976-4e6f-8c68-1e13e3549144 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:2703fbe7-b5a8-4b01-bd3d-eb91b49fd409 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:dc503c78-fa16-4af4-8caf-2c7f2073ff8f phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:9d5fba09-67ea-466f-bc2a-fc0c471f219e phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0032508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:63e0052d-d6f7-47f4-8165-a89cdb93bd7b phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:00a3b348-8b7d-4ca8-bc18-4089f4c11ac1 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:272cf45d-6b8b-472f-9f2f-38ff14607f4e phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:98345852-699c-4d49-bd38-8b8928c134a7 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:3b9889c8-e944-45c5-838b-55bf76730de4 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:418e5c7d-612e-4817-9eb3-efbdf00bd7c4 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:3610d8c6-df90-4726-83b4-a90567a6b0bf phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:04a9bc8c-345a-4fd2-8305-c34335a2da55 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:5413deb3-271d-41e6-9975-b33386ef54b2 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:a3616ea3-bed2-442f-9840-ea42230e4a91 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:873b7132-053c-4f56-b704-d02aa16d11f4 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:f396536b-f8d9-4889-8bb7-458b55d351bd phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_disease OMIM:182290 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20932317 uuid:c4bfb7ef-a232-4e3e-91f4-b0b7343786f6 phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:has_gene HGNC:9834 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20932317 uuid:3e24a61b-a0f2-4c3a-a526-7cdfb2152221 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:20932317 uuid:e6ea5393-8c53-4803-89c3-372c3596bb76 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:add66b76-108c-4ba4-8d1e-285f6692753e phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:67de81aa-440e-41f4-b103-5f1440c7eed5 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:403abcab-8ba3-4621-8ab4-642bfd400fdb phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:62f735ef-2f47-436b-b68f-c82e1c61397d phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:0f3c5f4e-fad0-44c9-b0b0-85e342b48868 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:3674cc01-8fa0-41bf-a90e-1aa0619f3a85 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:0df0409b-22e0-4899-b61b-f6494f1f41e4 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:0f26b7d0-48c8-4635-a811-a9b79271fb2a phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:74030154-71d4-4c0e-a681-6b515596ea23 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0032508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:ce6b0e9e-55d8-4efb-8266-12a8f481bed9 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:be66d05e-676e-4e8f-b6ec-43c0c455d875 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:276d282b-a498-45a4-9e3f-7235f4a06fd2 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:1333cdc1-b80a-4e20-8a86-196f65143f6a phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:456d0f6e-8522-4ca9-a371-2ae8889b56dd phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:3366fac0-c932-4372-b9cb-883538097fd5 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:96040b97-7636-499e-b774-883e242eb911 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:611a7aeb-501e-4105-bf8f-a68bd052eaf7 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:d084b537-9b3c-4fb7-90b8-d1d7fb2b5f15 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:2087d986-1620-4d09-b8ad-13af1a4b0d9a phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:648f0d9a-ca49-4b06-8bbb-14058cb5891a phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:f2166e2b-eb57-4a25-8efb-26507196f237 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:f268ada1-2805-4465-b6ec-57c379a570f5 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:f704915c-bbc4-432b-a394-1ba0ebdb8da0 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:164cbac4-b5a5-49fe-98a3-10bb42f7c9ab phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:9e2cc93b-7a70-407d-8da7-a6e2bd1079dd phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:d7dd76b9-c395-47cf-8e40-86001d404d9e phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20932317 uuid:95990314-7a3e-4aef-8987-c82f22349c26 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0032509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:8adf60b8-54e5-425f-8df4-e36d02021eee phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:0fd4925d-0724-41d8-9494-0cca69e4bd27 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:45758cfc-a8f7-4409-9c84-1daad2dfcfd8 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20932317 uuid:a0d019b5-326f-48da-b801-8c24c434f492 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_disease OMIM:182290 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20932317 uuid:55a2393c-5a4a-42cb-8336-c101c57e0da1 phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:has_gene HGNC:9834 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20932317 uuid:b311658c-031f-4d9d-affe-46f43b69d594 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:f9aaf56e-eb82-4051-a7a2-677227fda596 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:1138ea2b-559f-4863-aaf7-defbc683deef phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:83b95cb9-bcef-4986-b521-aa1cfe33a866 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:8bce37a0-867d-43be-bc4b-48c6f4a9a77d phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:bdf27bcb-efd2-44aa-ac42-073ff7461622 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:e866f272-dc6e-4c6a-9bb5-c211be18a23c phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0011272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:b91b9a37-b0e1-43cc-96ca-2f3c260845a4 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:a98cf31b-a57d-419b-95a2-1ac9de840d3e phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:9ffa75d5-ba6e-4281-bac2-e15b1f297a3b phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:32e184c6-8ecd-4131-8b8f-15cdcaff8637 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:26b865cc-4095-4ed7-bf7b-2e216b54075d phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:f35082ec-9f81-4a9e-803c-cace9406ef35 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:bab50b3b-c693-4717-99cc-8465ab64d908 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:2663689f-d47e-440e-9b5f-cd4ba24ab114 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:20ae2a13-8190-4dd3-850e-982a4fe9b12a phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:d2c4da7c-b879-4c67-88aa-91c66a570490 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:5e6b060e-1523-435c-8bfa-7639655c346b phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:f0cc183d-b220-4864-82a4-740bf184bf2c phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:ce8a98ee-db4d-48fc-8f76-81df6e73220c phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:a48400d9-2d3c-40b6-b8e9-ee6205f5e941 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:acc07f2c-e096-4d34-8139-2cfaa0be5fc4 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35451551 uuid:95a22752-920d-4805-8958-f09c8cd4fbc8 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:82e2a37d-1330-46bb-a8b6-ff845cc4f8e6 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:7c382e97-5dd3-4b3c-9475-5dc1a6172ced phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:759bdf25-4dec-40af-ad78-fb087b3efce0 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:1f53da68-ba56-49bb-98db-2c8636db53bd phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:3e98ed9f-0b5f-4c3f-afa9-d716f8a7ad84 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:d088b3cc-e35a-4554-8a94-5f3433a1ad9e phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:d540844c-52e9-4644-961e-03b1f0c9629f phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:806ce41e-b909-4f72-a5dc-981e45618298 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:36584904-2181-4d32-8f5a-373789972826 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:72e8e97b-a56b-47f8-b9bb-57ee4058699e phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:709ec4c8-79ba-4570-a977-9a72615ef4ef phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:fbccf3e2-92fe-4fa7-b80e-ee02c79c5f06 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:eb1c1402-1a7e-4a02-a471-95cd4b297cf7 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:fb67ed5c-fd94-467f-9d20-dfa2ab094b2d phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:76fee54e-099f-44da-ab3d-a9e318c63da5 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:289327d0-a488-4f3e-baf6-e64e837f5e8a phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:b8ad610d-fd35-4e4f-ba4c-09a9b24eb682 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:e6efd9ec-dd8f-4e6b-ab66-35a2ad8b3683 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:3aca611f-0e53-41b3-b249-c1f213e4f2f6 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:7b65c1d1-e080-4aca-a5b4-bcb2fed2f951 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:e9ce9a03-d3c0-4b34-90f6-a881cfc275bc phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:d28383f4-384f-4d01-a455-ed4cf64dc7ea phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:5d12a458-15b6-4175-a364-babba0db1111 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:3bc6462c-8fee-4c2c-9f1a-2edb6dfe4511 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:4b5bda2d-cca4-4c4d-90a8-831d9e7bd046 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:c95d1a9a-0b1b-4bc7-a822-ec723739db93 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:68e7cb4f-1454-4856-b6c4-86bcf5d60e5a phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:cf71b0ba-5e8e-44b0-b2d4-746b00d18a1a phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:0f583dc9-69e0-4595-a516-710013c85180 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:a2cbefb9-cc2e-4db6-add3-92e521c5785e phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:63789a6a-795d-491c-bff3-986490f94e7e phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:8f748637-92a1-4d90-a3a8-5389cd9902e3 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35451551 uuid:b83f811d-408b-4540-96aa-3c3e6605ffa4 phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_disease OMIM:620654 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35451551 uuid:05df3ba9-2c90-498e-8ae3-fbf03bd7b7ba phenopacket.store:RAP1B.PMID_35451551_proband biolink:has_gene HGNC:9857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35451551 uuid:a6911645-b115-4b92-9995-a1fc15776c9b phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:8e181d9a-3595-43a5-afd7-ce7d2c1f5ebb phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:af841aa5-b7c4-4f10-9df1-4efee42d7600 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:c373b6ef-bf60-444e-b4d0-8661b7ad82f0 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:b125eb8c-876f-49d7-ac72-a4ded3cadd35 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:fd2ac7ee-56f3-4ef4-904d-859a59e13c32 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:7b4dc177-e895-4779-bf97-705e19697489 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:451be5f4-749d-42eb-bdfb-ef64fad79990 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:6a1c37c4-e313-423a-8ac2-30cb3ee6ed21 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:3d0ac781-fb14-4fb6-936b-48f50e6259af phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:be10402a-ca15-4873-9eb3-ad169ea6383d phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:6568babd-c6b7-4ac8-8f38-2f5f4f8429a0 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:cffecb8d-f7ca-496f-b37b-905574b91140 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:0c981cee-d6e8-4695-8312-87ae4226d8e9 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:2fbbb5b4-6124-4c4f-83fd-3e9240748f7c phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:a42a9aca-d9fe-473e-9c76-207e89f1ce2e phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:37d458d9-2039-4862-941e-2f483feb13d8 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:8dec525b-b160-4569-b168-a7006d161a58 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:bda2ddcd-1ea3-4fce-a8d5-d28763cc34c7 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:30e3b0b7-a2f2-4e7d-b2f2-112468d09b7d phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:47f8048b-4376-48fc-9e0a-63e2ad884715 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:57bb1b43-5409-44fb-bfb5-6ec6fd900737 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:d7c1e7ae-7705-4714-a0e6-2f408b2ad31f phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:7410e95d-6648-47fe-ab0e-73db1c192d4e phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:d37ec85b-e507-4c9e-8844-c411b32dc259 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:24caf204-f87b-47ac-a075-ea853dd3fa40 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:b70a539d-0b05-4a99-85ff-7bcd5b421b11 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:58c4cecb-4334-4211-b9e2-3b29c446d827 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:345d4282-caa4-407e-bd36-00e4c388b1cf phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:ddb7c05e-bbf7-4b23-8041-141f838c045e phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:116c3ff6-e419-484b-9749-3e19e56574d1 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:33ed3d09-4d04-4180-b520-ddcafa558c6a phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:7c77ab43-1c65-45da-a182-2d3b62f68416 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:4ba59efc-72ae-4baf-b6ed-efc11a12be30 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:b565a645-7399-493f-860c-57d40e14370e phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:c78bcc0e-16a1-4481-b99d-b5e97935d54c phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:b0f779f4-807a-4c5b-9905-f6e9d41385a4 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:8b1e2197-fc84-4269-a5f6-c11ae03a64ef phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:0d7bcd83-bbfe-4d40-b282-5c43435993bf phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:b12cadd2-8d4a-40f5-b2dc-eed5c97e77ef phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:ad8843e8-0e89-4d14-ac2a-1f65f5077584 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:6ef25fd0-28e8-4540-8958-2ea48b676cf9 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:a76f1974-b729-4ac8-8204-ec0ebb9586ac phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:cb90926c-b13a-4dc5-9998-1e2afa16e45c phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:54318f04-17de-4cd4-bc05-242b01b090e1 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:5ed14650-e117-4763-9b45-4a50c0de48cb phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:76c925a4-a959-4fe8-ada3-f06e30fc7f65 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:024bf0ed-e8cc-4861-b302-4dee5cceb8a5 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:6bc5892c-be08-46df-9a31-69ac6b5bd155 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:681577da-6e24-457b-b278-3e7d77cbeae1 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:fa4740b2-e585-4b28-9fa1-783e6ab7a294 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:97fe33b6-d2e6-474b-80a4-54666f266eb5 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:274e4351-ea29-4eff-85f2-3d89c69da05a phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:26439587-82a6-4202-9a3a-0b80cf994fd8 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_disease OMIM:620654 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37850357 uuid:35f0850b-4d6e-4dc9-83f5-eb928289c271 phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:has_gene HGNC:9857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37850357 uuid:6e1e3900-73a5-4082-8c9a-9949056e6b94 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:f52cb70b-5d3f-461f-8618-b5ebd09bfadf phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:c8e31715-b7a5-40ac-9191-2b1e258d33a4 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:d070c89e-0225-47bd-9fae-63a0bea1f5e1 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:e99c9bce-0742-4fbf-a5fe-6970480d4715 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:468b602d-ca24-4340-91e9-0cbcb466137c phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37850357 uuid:1da39854-6e3b-44f1-88a0-1b17741dc460 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:6cd0590c-8ccc-4b21-8a95-af57e5d8e480 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:6200322e-503f-4586-9640-aeffcd4e94de phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:412a34fd-e5ef-453f-b97e-8b6d454c8206 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:88e6d21c-0149-487d-a6cd-6ad38f85af6b phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:7ff6b259-9aa1-4cf5-b0fb-b9e966b74619 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:8699abb6-38c3-48a4-b78c-2ef7ec6bc369 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:62a519cd-818f-4834-8d84-4f35c0b89298 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:75f2a8f7-b7f9-46f6-9482-d4e2c94dd7a8 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:7101ddc0-c6b5-4712-8537-f7325a344bd7 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:0c8ff014-43a3-4160-8489-278c90c6c1f5 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:5b57fa53-67c2-419f-845d-505cf87de456 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:1af0d2b0-aac1-4474-9b5a-db98552e029c phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:d349fa07-fd91-4a27-a363-d24aa4573b01 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:0e65a17d-dd2a-43ac-ab0c-618cdd0e7988 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:c4ad8243-8266-4e85-9165-e28c0b4011c3 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:04a3dcac-598b-4f59-8083-f3b03bf28472 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:b5dd6526-c221-4ab3-9ada-973726838dba phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:a8f51915-c8bb-4e18-8205-3d4f36086f7b phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:1ddc5d1f-d5ab-413f-ac6a-89625b87d252 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:86d81de1-8db7-4560-b03e-8f8bfeaa8e9f phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:a00256c2-5c7a-4d5c-9028-e6ea0a569c85 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:95aad1d6-5600-4b56-9c8c-bcb187e4cbb8 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:211b63ce-6e26-4294-b7c8-6061988c8119 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:217d40ab-6ad5-46ac-b49d-0afd4277537a phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:d700e33e-7d41-4957-8c37-aea4ebca8df0 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:57fef893-34c5-4a66-9f98-0494143394c5 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:3bd86cba-39a7-4105-aec9-de7516f5aa92 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:1e40dda7-c8c2-49b6-a86d-18c0f093de36 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:066115cc-3128-4cda-bb68-5debad8c46f6 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:07695a59-f720-482a-9098-31b3a71d326a phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:9db1ea38-198b-4d66-89b6-e0ac191faf6b phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:d88af119-fa13-4eff-8d86-b8f739053381 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37850357 uuid:99e1c28f-daa8-4976-b8c9-b33b4186aa45 phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_disease OMIM:620654 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37850357 uuid:845a867a-2a12-47d3-be4a-aa430fe71a6a phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:has_gene HGNC:9857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37850357 uuid:76ed8300-b664-4df3-94cd-f9e79e864a66 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:6bf4c60b-a24e-424a-a73e-e73cf771c0de phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:32627184 uuid:86ff0b24-47b6-4853-83ad-f78a40ab120a phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:a49948bc-efc5-438c-b1ea-5c7be210b8c8 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:cb39daa1-3a56-47c8-8ca5-da6907f83f96 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:25e6025e-31f5-497f-9c10-657994199992 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:bf85e582-d969-4525-bb99-bad518d8ffba phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:81f67b9e-8bda-4190-9f9c-3cc8a96ad5e9 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:b4994bb6-0c03-4ba7-969c-55e5c8eecd98 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:70904e35-c3d5-4951-8b80-38d83ec5285c phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:413c461a-aa14-4ea9-855b-37ef7bd387d1 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:5593f72b-7cad-4af1-8782-9e8839d2cb3a phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:4af23fe5-31e5-4f5a-b022-c43b7c7b020b phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:a7d88b44-0d51-450a-851a-cca2f7009b46 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:c3196a9d-dfb6-4709-9066-90f9c9f44c33 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:caaec09d-fb41-4062-adac-9db85dbc6f78 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:0f101319-1fe5-46e8-a036-781adfab1207 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:a8e78d3e-8257-40e6-9c2a-e7dc8ca60ac7 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:cf650545-eeb8-4b74-ad82-d73ed6defabe phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:ca1ce165-44e3-4528-9358-ee0d35411d1e phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:ee3797fc-802d-4d68-88fe-b3ee0015af9e phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:704e2026-0951-4063-a420-689571a28f09 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:1ca290de-d26f-4357-998f-59a93330383f phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:ae7b25c8-f306-4d06-8a82-6f77dc4eb137 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:5ec6a2aa-6865-4b18-9281-0142b48ea4de phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:71ee0559-7cdf-4b77-b051-2f4d0a8c5f51 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:99ef0e52-7974-41f2-be8d-ff6d6a979297 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:62f6b839-8f20-4ef6-b611-5991b88e35c7 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:9eb3472e-1dd0-42e4-96de-41420be8130d phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:4a532afb-062c-4096-b85f-fe24b8063a14 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:7fedf61e-b489-4350-9802-8d94c49a4800 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:3fa8ea26-4a4e-4319-a995-4ec07b5aec94 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:3a7c4599-abf8-44b5-a9f1-e869861227ae phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:0091d726-b8e8-488b-816d-cddf1935230f phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:4bb56ade-ddad-48f9-91cf-46b7cdba15ba phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:c795971b-eeca-4646-bd01-bccc786a4296 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:573f4b0a-fa88-45ec-a0ac-711fcf704091 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:c4c1a0b1-7a96-4c7a-aba7-67dfe9e742ab phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:1370b20f-b704-449e-8dd5-17ab55f401a0 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:a27be13a-e402-4941-86fd-8ab3a7ce0645 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:154ae323-0ecc-4df4-b5ef-b3aee717b02d phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:96ddcb11-e271-4648-8cdf-53f4bd5349c8 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:fddbb5ba-b883-4984-8606-86122fbd4a94 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:fd6d7550-8ce4-44d1-9635-2591e3f9a6bd phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:cfabb52d-ca7f-4642-98e0-a56645064742 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:8aa36b46-c8da-42b1-9712-34cb67771840 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:1086cc11-581b-4fbe-bea3-cb8bde63fe93 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:764f2f35-a6de-4922-bd29-0a46ba668082 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:1506a27a-76cd-4c4e-9998-60d6eda9d079 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:e94dd389-08be-4878-875e-901820d87e12 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:dc8f7015-91f0-4bc4-9318-46c7e7917f67 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:d6269b25-f839-44c3-85db-bff19daf3ba8 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:bdd7e225-1e84-4683-aabf-a32e0869b606 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:d3dcce5e-1242-465b-b0d0-4153ae6ac750 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:ee3b5209-a643-431f-81d4-58bb25112ecb phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:cffdf655-7956-43c7-b411-b4a7a4999284 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:67393905-c066-46e6-b181-be09f94f2548 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:a2934aa2-06e3-45b1-ab19-7cff460a5572 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:241c6bfc-1fac-4ede-87ef-1d515564906c phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:b0548fd7-feb8-4212-b19b-dd5ca953572c phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_disease OMIM:620654 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32627184 uuid:7b3b2181-793e-4c36-a232-b8f4621dac32 phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:has_gene HGNC:9857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32627184 uuid:01071f42-bc66-4a35-948f-de3748af513c phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:32627184 uuid:8d4247bf-8229-404a-a342-49cdf5d1c03c phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:70e54bbd-6b62-41a5-8ca9-400259dc884e phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:aa06849c-6c91-46aa-b05b-dc936bb006d6 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:9f705e69-e332-4c05-a5c4-3d34e58e99d5 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:7f96f998-ce53-4b91-b92b-efbb28df9340 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:69c7a346-8593-4f7f-b39f-0834abd79ef2 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:c95f04c7-8ef9-44d2-8d95-bb1dcc3f41c7 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:278b776a-aa51-41fe-89f5-ea0ddb5bb3da phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:7a91c6c8-491b-42f2-865c-3c144ec6c66f phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:a789f3e8-146b-46bf-91d0-63d4c94113d4 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:f5ff35f5-900e-4a3f-8086-4c9837ebf421 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:f959dbab-d5d9-4fc7-b0fa-60af63854cac phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:13355caa-53cf-4c0a-985c-0b3315e38d6f phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:63c6d7b6-0662-41c5-b370-7e9b8bf459c4 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000958 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:be6c3751-6851-4f90-9727-fb647f3d6e82 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:45e17928-08b3-4c5a-a1d6-69b112cf636f phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:bacce299-8a90-47f6-ad4e-79302d166c87 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:e2eb4966-b93d-4dfa-945b-0a09df9117bb phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:c3419d5e-f684-4c33-a14e-7f6b83a94a39 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:efc5b7fd-5585-4cfc-980b-ec31b12e356b phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:ba113ee1-e23c-48b6-99f7-faa52818c1ef phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:4cfba441-2f18-4ec1-9e2f-c6555d9dc54b phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:feeea2be-6c21-4311-9fd8-7019766bbacd phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:fcd44246-85d3-4023-bcd1-6c8704317457 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:2434d119-0b82-405e-9832-2459d0f0e14c phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:efbbbb3c-405d-4ad2-9075-d51aa04e7d53 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:5a1bb03c-c2fa-4844-b690-e92498ae0eb5 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:b6fa483f-3ea5-4842-8c76-61e2a20261d6 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:8b1928f4-2302-40ce-a726-1dbdc08f7c1a phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32627184 uuid:55f7022e-1461-4e4f-b5e8-44b95a935daa phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:2423697c-4ed2-4db8-bad0-81b546657ee6 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:62d85a13-23f1-42de-9138-68efde17eb49 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:6d251555-7620-4fad-8f95-5ff61be02a50 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:52639a9f-0d7b-4e6b-bd25-f0932ea2d1df phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:0f76c806-5c3a-42c0-aed8-6f8d7e2db0f4 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:3c4f2532-da79-4e9d-971c-11e3dc3e6155 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:e475c116-fcae-4598-a98e-7f654f7a1cf6 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:d3c6ea95-e7c9-4901-9eea-c0649cc537fe phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:c554501a-c7dc-4c6f-8608-95ab72b9bdca phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:d8f315e2-7a63-46ac-be9c-9a9f942b4281 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:662e3d53-7265-4b4f-bc19-6c154aceb7a2 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:43895a8e-87de-4059-893e-4e68ac20192e phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:71ed688a-9893-4bc2-862b-0e33e607c96d phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:0595a244-85fb-420f-8a11-1ac79dbd5ef9 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:40abd090-16d7-46c6-ad01-990c74b99fba phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:078cbd65-c774-4d87-be5e-c550b7d2cd08 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:48a7bf03-5c14-403c-b0a4-d7d4cdf3bda9 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:ae26a40c-4a2b-4e59-81f7-62ce3c773e05 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:01bcb5d0-b7e2-44bb-b988-46d69d302f8c phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:6b9c99dc-e8f4-41f0-8aa9-dddee11305ba phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:acbd597b-276d-4cb2-9845-09c7e37fddfb phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:3e70cfe3-9092-4647-8aac-58308e2932d0 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:81a60572-3b2b-4d71-81c0-9f3976b05edd phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:675cd97e-92a2-453b-9cfd-201bc211a777 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:fbbeaaa9-d58f-4447-bb92-a0166125c2d5 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:fe3c8bb5-3d05-4c1f-8421-3d25ff3fc134 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:3d4439e6-7f40-4741-bb62-ea464f4db9a9 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:d4d61abb-31b3-46c2-8cc5-869adfce1b0e phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:71e5ee53-ba53-40a1-98b2-7831d42c6e2e phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:655a93c4-ee32-4d48-9a4b-806b72c51b47 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:2ec4de3c-9ce2-45b1-ac1c-da8fcee79bcf phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:c39a08f6-e49a-42b3-9709-b0d750b8179c phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:f883fd65-fc39-4f72-99e4-73fef59d9fb4 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:ee3331a8-9017-486d-a269-3dc22639019d phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32627184 uuid:9222c6fb-1705-4214-8224-6832831876c9 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_disease OMIM:620654 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:32627184 uuid:7cf23182-93aa-45c9-836d-5fe9497635f1 phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:has_gene HGNC:9857 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32627184 uuid:94e65d33-19df-4025-97f5-c128e23fe499 phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:eb7e590a-9cb5-406c-b1bd-2a064bbd3c59 phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:bc38fdb2-580c-4068-aefa-0aed97ae4309 phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:f858fbb9-585e-49ad-840f-41d77a2c0e5b phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:b9116fdc-50fd-4cb3-9927-fc8966f70a9c phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:d64864d6-f55e-49b4-ab85-544585e2a1b6 phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_disease OMIM:620655 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:9730a8a5-5c92-4456-8403-e6136fc1e384 phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:has_gene HGNC:9859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:906754b0-c2d8-40e9-b760-a9ffdac58167 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:b811b4c7-bdd2-49e8-89ce-4e214af21da6 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:4ce76b32-b2d1-4084-b7f8-ad926b035a22 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:4aae01c8-6184-4bbe-8da8-82ea74ca76e2 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:7e47552e-8aab-460d-a344-9d2eff243113 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:c273a646-9045-4db7-87c8-749309ac93cd phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:d518472a-2951-43d2-bfa9-a233c3eab28b phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:117a41df-3422-4a35-a28c-726befeb47a7 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_phenotype HP:0030863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:81880871-e0dc-4288-9f45-13c98fd8cf39 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_disease OMIM:620655 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:8fb02c70-1e6a-4967-9e5b-67850f552b06 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:has_gene HGNC:9859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:ed3e31e2-0d40-4b1e-b903-a4a749e16405 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:f15e7982-6c66-4e92-96b1-6bab158bc027 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:e1ec5f3c-926f-449d-a13f-8f4a4492e0b5 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:2245b5c6-b388-40aa-885d-cc26167e94bc phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:e2f5a939-3af3-4825-8497-efc7de6327db phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:0c0abc1e-e8a5-4fe2-aca0-b6d30d8d3cc9 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:eb64e8cd-a1bc-41b0-a84b-348f308a8a64 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:54aee794-58d6-42f6-8c68-ef2bf483c40a phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:7da6a017-0825-4718-9b18-1331cb168853 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:6fd320be-e02f-4482-b507-0ad581cdf8cd phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:6a534c66-8aa7-46aa-968b-d0a48a949875 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:447ab717-dc97-42fb-aaf4-6f466e277856 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:08987021-df74-4ce4-a253-d9fa06ba7678 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:f72f3113-9f21-4c17-b783-dab6954f1934 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:a163a9ec-6144-43a1-9401-338c8cdec81a phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:6213249f-5e8b-4a22-bae2-2e35cb40681f phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_disease OMIM:620655 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:2d27b9b7-fdfe-40fd-a81e-e59c1680c1bf phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:has_gene HGNC:9859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:5565f5d1-9cde-4f65-b000-a84c71ae667b phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:c7b1de6b-c595-4481-9a08-173eb705464a phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:38dbdec9-4f07-40cf-9aed-3f9e48e29ebf phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:b76be53a-d1b5-4d3b-ab64-f66f16099de3 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:8c860009-8b3d-4a94-ad22-a15b9c038a5f phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:a2dcf4ad-68bb-4ad7-a729-c4ec7e991b54 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:65f03d28-e4d0-4024-aa6e-2e6896409c61 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:8231967b-7cb4-4df6-9f80-71f0f7b0299e phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:8234f52f-63c9-4872-a70f-f18e1ccdd47d phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:e567bd59-6b60-4592-8ff5-bb7503bf9bc0 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:7300ae71-1a41-450d-bc47-4556375911cc phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:574f2b33-5b77-4c96-a44a-c74ab9e842e1 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:3b82f08a-654f-49e0-bd31-d04fb3ad0d7d phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:46f1ba66-d318-42f9-b6c5-dda12a8808b4 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:9d0ba420-cbf4-44af-a98f-f69a4de54f4d phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_disease OMIM:620655 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:6f8dff73-3147-4f0c-b8c5-cc3d2a4fa3df phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:has_gene HGNC:9859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:eaea7e5e-29a7-49e0-9ced-376b2fe0d388 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:bcf8c7e2-e0ac-434d-9924-c839ca5e7a22 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:fc6dd23f-a99e-4f1b-bdd6-9f3c9011e036 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:f3e144c3-ae64-4f48-a87c-e140c8d76948 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:f22e54c9-dedf-4fcf-98a0-a32537f0a7cc phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:71bc7a3b-5ef9-4bdf-9833-49a8bc8e683f phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:528797e8-2667-478b-af2f-4337e561a2bd phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:920a5e0d-0b9c-4703-a9b0-8c1445828cbb phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:16ba17da-b982-49c0-98c2-8152ac72dc44 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:d7789625-b06d-4275-ab8c-821168dbdcf3 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:4a1294d0-44f1-40b3-baba-fbb6ecca72d5 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:42980749-104e-467f-8bf5-9938fdd9a632 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:bb763e8e-e872-42d8-b32e-02ed50b3ff55 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:38bedc67-8906-4225-b438-a1dea1d27604 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:ab73d032-e9bb-4d18-8cb5-fb4ed12d6b2f phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:f34e8927-fe2d-413f-bd93-975f35395552 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:af261a1b-94a1-4022-a2f2-debd0e669c3c phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_disease OMIM:620655 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:7178d9ad-6d68-4ac2-80dd-07caf3bcf3b4 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:has_gene HGNC:9859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:892f720d-19fe-4a08-81e3-bf7dfd89bf90 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32431071 uuid:482af250-5ca0-48d0-9346-cad2a69377f3 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:1c524a90-bcd3-4ca0-91bb-d791ff48f247 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:f4ee3d4b-0cac-4c0b-a948-b196d36b1c68 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:fa82d610-5477-4c45-9501-8d171194f523 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:cd4dd482-ed11-41db-b6fb-4cfbf001576e phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:11caed39-0a9c-42a6-b0e8-18aaff5a982f phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:c16138ca-6506-4939-9705-efca1b021c10 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:2a242f27-146d-4d7c-93a4-df74b6684d82 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:c4df9993-76e0-4efb-82ed-fb159a052ccc phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32431071 uuid:07158a7f-d8c9-47b0-a759-b5b92e91fc05 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:1d275b16-72b1-43bd-bc8a-7d13214620f5 phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32431071 uuid:4f986645-219c-469c-9e9b-38133dbb3cfd phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_disease OMIM:620655 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:32431071 uuid:c8ec3ea3-0433-4cea-a1c8-be89989d8c8b phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:has_gene HGNC:9859 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32431071 uuid:9a351527-c384-4ff6-ab8c-83bdb24316e9 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:30891318 uuid:fefc2eff-c829-49a6-94e1-2bec26436739 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30891318 uuid:2516688d-a62a-4dbd-b2ed-cbd80226524e phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30891318 uuid:228a8aed-24a6-4a4a-82a9-0bf1c4764037 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:30891318 uuid:7ce6f2fd-ef0c-4e70-a6f8-f7cbfe4563f8 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:30891318 uuid:3ed3d452-729f-4705-b175-17b0de564d2b phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:dadd0b88-0afe-48af-a98e-c9311c8bccb4 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0025441 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:3f074660-b715-43ee-8bb1-d047cac8bd46 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0005328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:dd52050e-f131-4ea7-b466-4ddf03cdb5ff phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0007556 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:7b9e0bf2-ab7f-4256-b039-2916c9515978 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0004334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:f60812d6-9d56-4d09-84be-f695089f2e93 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:94a7f99d-caed-4d0c-98e6-785f38661ba3 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:512ac280-4c70-43a8-8319-2a2a614f303d phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:c5179dbb-3c4e-48d3-8e66-81e075316959 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30891318 uuid:9efcf40f-7e49-475e-b4ab-826246ae1d37 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30891318 uuid:4b2298fa-5dee-425a-ace9-a90ff385b670 phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30891318 uuid:3ef41067-d2e0-41b0-a5cb-7e3b31c8ad9e phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0002858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30891318 uuid:f20ac269-2c08-474c-9be3-0d1c682f6f6d phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0005177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30891318 uuid:16c797d1-1bc2-4057-8815-76139ac9a03e phenopacket.store:RECQL2.PMID_30891318_case biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30891318 uuid:31c7b9f4-492d-42a5-892a-e3ef120dd93b phenopacket.store:RECQL2.PMID_30891318_case biolink:has_disease OMIM:277700 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30891318 uuid:12defb7b-3d4c-4b14-a7f3-631d8716d5bf phenopacket.store:RECQL2.PMID_30891318_case biolink:has_gene HGNC:12791 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30891318 uuid:d32bdf3e-c39b-4dfc-934c-a7d535d68a98 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:30568144 uuid:78216107-0b28-496f-b4ec-fb130c75d543 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:30568144 uuid:8d96e495-b699-4896-b57a-552eaabccd65 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:2c3aea63-3559-4770-b5f6-90173767ddde phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:808acfea-c44f-474b-abf1-e46fa763d4dc phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0025441 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:9e378b3b-3a7c-4658-a96e-c96c3a4ffefe phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:661b1b0e-b739-4a77-859f-8a57a5b5bee0 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:74fdb2a2-34ea-4bd2-9ff6-8b133d87c0fc phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0004334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:4fdaabdf-8190-46d3-9140-3558d00b3093 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0040217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:d12bcaf0-7838-4d78-9112-3a61fb770ab0 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:3998ff8e-a86e-4be5-ac18-22710db44e95 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0003074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:6451fbc3-c658-42cd-930b-1e216968da18 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:81fc6761-113f-47ce-89e4-bd0948adcc49 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:35c297da-9b04-43f2-9242-6cf19c99cb4a phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0033047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30568144 uuid:48ff2b11-6152-4cbe-804b-3d39aa8a7516 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30568144 uuid:e62bece0-2f99-4d7f-8817-6a83b70d4213 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0002858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30568144 uuid:6f894482-488d-4d57-b3b8-f0225f9bc699 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30568144 uuid:8e57339a-316a-40af-908d-5d54785090fe phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30568144 uuid:91cc9374-2cf1-41b0-9db5-cfcccb14b732 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_disease OMIM:277700 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:30568144 uuid:c8e5325f-2bfd-4e0e-85b5-130bcc7f3462 phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:has_gene HGNC:12791 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30568144 uuid:5dfda410-5a91-4379-9f97-ffe74133efed phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0007033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:584624ed-dd52-4220-873b-ac93a1b51285 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:c58ad19d-ff85-4456-a28b-f88d5b74ace0 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:4a3797f0-e134-4cc9-9283-baa67e97611d phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:69cec675-7e81-457e-bf18-a28232ce558a phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:20179275-0f52-42d3-b0cd-5782840b5f25 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:19291e8b-21cc-4895-9ab6-b609ee4ddaf6 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:194379db-9198-41d3-a632-71bf42948a58 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:58d9a18e-bafb-497e-9179-a5f7a10a769b phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d0dd74cb-16c5-458d-92fb-ef266b3df35f phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0d05cad2-2768-445a-9202-e0d7db919389 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f62bf5c1-04c4-4183-adda-2a65898a66a5 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e1775865-ce29-44c1-af5b-31e5686eb92a phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2108d9dd-6f01-4784-8dfc-bdf1707c986c phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:96c49e39-2d90-49a4-8800-9e8098cc50e7 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a2df4857-c35e-4504-9557-af80065e29b0 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fa233e5a-3b2f-4d40-bb6f-645ae71fb2e2 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e1be47e7-7f03-4e80-932e-1f474d1def6b phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:90f7317c-4b41-4b41-9f99-bba45a6540f9 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d2773978-ab22-4ec5-808c-b9eded6f8acb phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a6935293-0258-4a9b-8261-051de9ce1c54 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c4178b15-e8c7-4469-a036-5e80386d2ad6 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f9954d1d-5275-4b58-bc9b-526b2ccbc215 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f5d9dab9-4ba6-48c5-bb3d-abb5b1cc6fda phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7c25408a-c5af-4d02-ad29-e2a6f053fd57 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:01a258e6-fba1-4192-93d6-ac5f28a79622 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ea88bb03-8f8f-42af-ae43-97759756256b phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b0e19f3b-2da4-418d-bb50-c6ed4295f9ab phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3bb59b37-e2ad-470d-ad8a-18646711f374 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8dd42a11-285c-4718-972e-30b0dcbf728e phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:abd838d3-71e3-44d0-9eab-e46b341b0e82 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:719e061c-1fb3-4cef-a298-4441808e860d phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:4127413b-9be6-49f2-9748-0b2326c2fef7 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3a79a3d2-d362-4425-8776-35db950cea25 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:11ce41df-d095-4073-9df9-b5093973c1f4 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:471c3187-153b-4481-9a47-1f41d0c7e7f0 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:37380dcc-69e2-4c2f-aeb2-40494383485f phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8d8eae51-0843-4466-a8a4-6257b5da6b01 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2de75502-9c6c-47ce-b984-26c517a759b6 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a92da90d-d1c8-4636-a2b4-95d7265af8fe phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:16d1c649-1f93-4a78-8851-fc3d0b728f37 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:bfb27768-7f64-4d4c-8cab-72dbc468a7e7 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3b13f671-4468-458c-baa1-a8f1fd3b52bd phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a3a4e2fd-aa89-4596-801b-4ca4d249eb07 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:2c334143-23f0-4d4d-8219-67c89184e408 phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:b231e1c6-88ea-45c1-8219-7b71e1dff71b phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:594327e1-5678-4c5e-9a7a-095994aad566 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:b4cb513f-5abb-4706-bbf1-378b113357e2 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:cad97232-90b3-49a8-b649-62ec5965cb9b phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:2d1676d1-21ec-49f6-8788-53512030689c phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:92b94135-c6a9-4822-984e-b10e086e34fc phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:eb45fd95-1aad-4460-8f9b-5e8c7043a313 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:992b7120-6da1-4131-aacc-2a928b344c04 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:84734ad5-dd67-4559-aff8-c2514bc22429 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:b8d46f0c-1788-43ac-a65f-6ab249108792 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:dc347f2d-a995-4a86-83b2-26b3e0cd0c84 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:85b7ee64-de6f-46b0-92b0-94b6517a949d phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3d517bc3-df95-4137-83a3-c7e1c1189ac1 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:93f21f96-c837-4a7a-aa34-9c9697099c33 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:31724bb5-fd40-40ea-bf1a-69f22e2cc000 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:104440b5-f502-45a1-ad22-a3b45eb5ee07 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7bb182cb-720d-46b0-8485-82c4c5851337 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:52dcda5c-8242-410d-a0a3-d6ea922d4510 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c77d703e-6339-45d9-b1c9-c999937774ac phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:29e04ddc-e234-49fa-88cd-03adfa11c12f phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4e3288fb-961b-4485-ae2f-711afd32d50a phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:45763acb-238b-4825-aafe-8a27a7b90964 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ae7b4dd5-ae75-4557-8aea-c6ca24ef0bda phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b04421cb-ad5b-4c98-891a-3f161670e72e phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c60525a2-293f-4590-8cbc-133889e7d219 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4c5ab22a-5e2c-49e6-9e89-48f2809596ec phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7a02807e-7b40-4f4a-8b6c-b72039bb5b52 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b33676ef-51b1-4d74-94dd-c762a5951b73 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3f3cb014-0eca-4e41-ba94-a5e18823d630 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:72b5fb37-5262-4c22-a256-a79b8bb416c8 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5ad8c5c1-29e5-4c72-8e8f-229abc03ef67 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:aba1bbeb-a0cb-401e-9587-baf33e2b42a8 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dc754d65-be3f-4b0a-b299-f13789cfb9a5 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8f60250d-2c02-4962-acb3-3bbeff7d825f phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:941141e5-fe53-46cc-a646-47b76aaad497 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:98292b94-f645-44eb-9daa-4ca1160fa098 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d39269ee-1a24-4d94-9213-5959bb8e0aa5 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cdb059ad-72ef-4ed2-8f6a-d4292f9c65d6 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e164f353-8f9b-4251-aeca-e9c7e6585dc3 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7dd46beb-d3df-4644-afb4-a0df4947293b phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e38808b2-65dd-4018-a5bd-d2ac3c01c742 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ec9ffb6-2a11-4f38-8459-73861d98b0a4 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4c382c04-ee5c-46d2-b664-387d64cc6d1d phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:04b8bbae-79c2-4b3b-b510-24bafb1a8635 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:53c362cf-81d0-4998-b379-a47faa20d12b phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:68fa5409-a8c7-41e2-a9e7-304b5ae441b6 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:69c60d53-cf99-468a-900c-3645699c9991 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dceb9735-6046-4bcb-b783-8a38d248a94c phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:60b175c7-61b1-4c39-8c91-5988b398dacf phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cfe95048-1b89-4db8-ad04-2fc6226bed1a phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:eb9ecc8f-616f-48ed-8634-da0bed47c501 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:04305c62-c724-4dc1-9567-9ef0e5073308 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e8fdb22d-7c62-4a5a-9526-04aab7d7a691 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d52ace44-2a57-4f94-8386-665be1365895 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4c402832-5f67-4e76-9079-0312fbed7bb4 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:21d8b964-65f4-49c0-9d48-aa19e701be60 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2654d164-3656-4564-9922-a12a4dd7caf2 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ee39dbce-90f8-4df5-8f5b-a01b8e99639d phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:09c78ffc-bc84-44b8-bda2-4178444cb056 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d406a27a-b408-453f-a063-1632dc81cae0 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:53a80e50-ad0a-4812-b842-cb411c915dc3 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a12b861f-3606-4944-97ea-8e299712f820 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9f121bc2-1ad2-4cb8-b35b-9f9743282722 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:89e04d2f-e3fc-43ad-9080-f349784c03a2 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:48cb5132-293d-4dcf-89bc-433fd9a07105 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b823f128-b589-4684-bd4b-4d0d8c56d9e6 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f157e402-fccb-4bc4-be27-0b719be835a6 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dc8dd7f5-c91a-48fa-a534-7b3b941d4a2d phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:176ebc71-e933-461e-af67-f584f035e280 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a8986df3-3cc1-4ca7-8280-e7abfe046129 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b4965f97-6ff3-4db2-92f7-3c9d0ad8e1f4 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9f4b90fb-1b8b-4511-a70c-b0b1090ed14f phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:88774558-f61a-4b29-86e9-9945ed571e96 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d2e5c7ef-a880-4740-8b5f-ef238cdd67e6 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:18bf6dc9-2758-498a-8af5-17b92ca0c998 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:85169264-ada5-41e4-a92f-db2801e5fd96 phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cd8dacd6-8658-4757-b5e3-59cea023ef2a phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3b621feb-c850-479e-ae07-796716bfd1ab phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:f5977cf2-9b0f-4171-ba02-4f098b4f212c phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:206d5806-97e1-414a-b657-444f23bc0271 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:03194086-9ec6-46a9-bc7c-604dc4f4859a phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:9d8dbf13-0dc2-43f7-9eb6-d772bbf4fc69 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:1a60c958-d47b-46ec-8108-0885b40f4434 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:6fa1bb7e-1ab0-463f-99f4-7b2fa89c77f1 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5c2b79c6-a2bf-4550-9907-86772016e377 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d76492a4-edbb-4d87-a545-3b0ffda39a64 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:b00ad6d4-2455-44e1-b79b-b1423b4c5cda phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:708f8e1c-43b1-4f8c-9e57-94c2aa29c3fa phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e0d85c87-2f2e-478b-b746-fb48aa5910a6 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:2fecb781-c9dc-4dc3-8bd0-e7a78ea84c84 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:2cf493e1-019d-463a-8f0c-0d209f55027b phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:cd3fd7a4-ef20-44d6-b89d-2beb30fa1aa6 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:6e7e6585-a9a2-4030-8be7-cc600e8fb88b phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:13d99e65-ecbc-4ef5-ae1f-b78506332bd2 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d690c363-0385-4512-8e28-f1bb744fdd1d phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6d8900d3-3a2c-494d-9f44-d58a4df81aa8 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:518ea2b8-165f-4ed8-bb6a-592d6fabb62a phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8d561b07-b94b-4c2b-abe5-9b494e2eab96 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:33672f3e-de11-4dc5-bbc0-db4e698d26e3 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fe7e710a-8e38-4ea0-9a42-fdb3439e722e phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4cb5fc33-c883-4cb0-92ad-8b1c00bde5f1 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d32c9114-47ed-4e2c-b88a-6de40ba97d02 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4c686292-5caf-4564-910a-3da7730e8bee phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c72596aa-b498-4295-ae9c-bdb2dacac72b phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a4bfef9e-804a-484e-9699-8778617cba43 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c3178080-0901-4501-a143-4321e62daa54 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ace62c85-b694-4c02-ad1e-2434c4b559ed phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a7e1d406-aec1-4df1-8758-4cddc69b92f0 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:753fe49b-8d8f-4210-acd8-41a1a4c9cfe5 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:95361f9c-ab5c-415a-a3f8-76ae4de5e383 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cd178b64-abbf-4cef-9ab0-7ed490c839fa phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3ebeffd8-f00c-40bd-b777-42a42a027bbc phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:321334fe-737f-43a9-b4c2-058c460a01c9 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:23fcd217-db2d-4adc-928f-b305896f5d8a phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:404c0e8c-6bea-4622-98c0-03d048db9a8c phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b86ead32-b2ad-4c87-ae58-c5a5862356f2 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:15720aa4-ffdb-4cef-ad59-057299522c89 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:875d7de2-3196-4eec-a5b4-cf645ac091eb phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f082f5df-589c-42a7-9ae3-84cf331f0e8d phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:58c6fe81-e4d3-4cc6-83e4-c6575eca8469 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7342eb97-d874-4e64-a8eb-0098c9e60fc1 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0d02b0a9-040e-46ad-838b-51f1685fdaf7 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2651b3f3-1a81-435f-9e23-d5c51d4a5df7 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e50be713-fa63-4744-ae21-1ab0aa7b3bde phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:818bda6a-1cf1-4164-88f3-44f1cc62328a phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3d3de456-8ff2-49c8-88d3-eedf2f3490aa phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b6fcf644-0965-4b37-a80a-da97d130889d phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:da06d2b1-3356-4ff7-b770-735bdcd2f847 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2a504ca5-a220-42f7-9829-f9337cb71b10 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:15d83d56-74ca-45a4-98d8-afa33bf604c2 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4c552509-0062-4e51-b7fb-dd22c3d9d9cd phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b77e9374-5cb4-45b6-b1a1-9c6d76d88be0 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:867ffcc9-4a0a-4eef-b02e-c0a97ac77b23 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1b46d964-af42-4242-9a92-a550a57aaadf phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ba9b7c5d-2be5-44f7-89f8-ccd4a174d9fc phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ad1587c6-f709-4384-85a4-1cc5733cb7b4 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c86b57e8-b0ac-44bd-aeef-03d9506cf8c2 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0eec8e61-fed8-4649-9a21-a6746ab66bfb phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e9d1a72a-362f-4b9d-88f4-23bcefbd76b9 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:93b0dd4b-46f6-494f-b386-1bf123566d84 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d822a8ab-699b-4a36-bc8b-221472098f22 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7e70fd0e-6ed0-4788-b1ad-7f0573f8d83e phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:33b4362c-db11-4cfc-8973-923fdb977e29 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e0359007-a0db-48ec-957d-c46373715a82 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0ddbefd1-cc8c-42b6-ad24-6a7a80a2b028 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a01bce70-9a99-4577-bd3c-104901094a4e phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:48299e18-d6bb-4776-a635-1831703d2bdc phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ff01aac1-37bd-4e59-b11e-1434f61fadd3 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bc87e2f0-c695-48ed-aa29-2adb724783c8 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:fd4b029d-82fa-46ee-813f-86e9f73eb580 phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:397662f6-9890-443a-8cf6-7922e05cf926 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:414d331c-4be0-41d3-96f1-2ff842eeb811 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:6aea6990-e863-40fb-b7df-ca46a0b2106d phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:3922210c-6203-4543-95b1-b39b24062a43 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:92a6f4a3-e0c3-4dc6-b676-f5f2c4bb2617 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:134bdc92-017b-45f7-9efc-5c37fb44a5b9 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d22a68e1-890a-4574-95d0-9ffe50ef63ab phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:574942d3-39d1-4c96-9f11-4ae88cc111ca phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:b6659efa-2797-49da-93ce-cb64479ea2df phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:32a53298-068e-4e6b-b52e-c731a2c0ecad phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:27cc815e-81a5-44ee-926c-213148155796 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:8accec3e-fe38-4562-90ba-f4b4f7b57f1f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:2220956e-b000-4eaa-9e0a-88b0ea045810 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:0e156fab-42de-4a6d-8d61-39ec3db87d73 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:f19ccaf3-c623-4a64-bba5-d22a3e74fe2b phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:73bb8eac-dee0-4f57-b934-785a5a766ac8 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:23fe5bc5-ee84-4b57-9bee-47966e14e773 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:f2b6a6c9-b23d-4b8a-ad20-fdc800fca6c7 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e3a7aacc-eac4-4d69-bdca-212a674d83b1 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d8c2fe4d-82ce-4425-b096-1a3fc937ee0a phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:977d65aa-27cb-445a-8c9c-86f15ecfe01c phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:ecf8df04-4fba-4242-a0f3-c9f228d22bd9 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:dc49a921-bab7-41a2-bcc5-9fd17fa0f9be phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000041 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:448d5ec2-b249-4ac9-acf9-cb2f1d641489 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6a9644f6-925d-40eb-9500-e9782a5487f1 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:58c93e6a-4d95-4b47-a464-c4883307a3cb phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e9970a4c-2968-4929-856b-9e69576597af phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8a0ca647-3dae-4aac-a5ee-d0fe562cf7e3 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:be93225a-19de-4bc8-af6e-61444d9b2ee4 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fb80c653-5541-437a-8cd2-980f52e2221f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:da7d7866-dceb-4356-9c90-30048800bb08 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f2466a8d-2cad-4365-ae8d-6f6747696e16 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:90c0a3f3-db17-4bb0-9d6b-bf91291bf368 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2bc005d6-8874-42ed-a3ff-400b2a6c1702 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c18e02ed-e9ff-40c2-89a7-0dd7094f6d59 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5a9920f7-08d0-4a8a-aba8-15d05893661d phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8a870ca1-fb69-4ba5-9f24-9081959d3be8 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cb70326c-6595-4bb2-93b4-5bf8b321c42c phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:32acd6a7-e676-4828-9d33-763b704d7261 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:77299cb4-e2b2-444d-a040-370ac3f633ab phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:54a1c606-e8b7-4c7c-855f-6422b6237219 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:460c51d1-fea5-4ef6-b81a-952643c60593 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ebda3582-808f-4a83-beb1-7e726cbab570 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f1993b65-8e84-4b6d-a9ca-a6f4bc61150d phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:003505cc-642c-4461-b62f-0541c5a7fe64 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7d63ce9e-eefa-4f5c-bc8d-e14aaec94ef2 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:efaee576-d737-4494-bf2e-186a95c6ffb4 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a4fbce3d-1ea5-4968-9f82-be0dead9a5aa phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1dbcaeb0-40cb-49b0-8aa1-d7f5ddf1b08d phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bae493f6-c438-4a72-a1a5-6197f2bcdc40 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ec0b5ed9-b0ae-4ef8-88a9-a8b8bdcecb14 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bfb8f787-2a07-44a5-bd8f-b714e063c11e phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:82f586f0-f849-4f9d-a677-1914eb04523f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:21771f63-2060-4d45-b564-350772b33606 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:96e93cbe-0002-44fa-b5e7-68914b935387 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5041a2db-37ee-4155-b668-2625d1c67fd6 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a3b2b144-de28-4f35-941f-70e8dcc8cb68 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b8fd58b7-c009-4fce-a046-8467a9e90d09 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:68a44c19-deb9-4d42-8dba-ca21dc961d0f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a0b8e3fe-13dd-479e-b353-30f9ed134b1f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e0762e7c-e6ea-4356-b25e-1e4eaa41a22f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3b1db6ef-b191-4ca7-97b4-55ef8c68bb37 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:01d300e2-e2da-4a9f-8a60-79a8b6cb926f phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:250264d7-a33d-4696-bc5e-57b72be43dec phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a8bc35d2-e6e9-4dc8-bed5-670df1265caf phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2a7673bc-893c-40c9-b1c8-1c13183b85d9 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b6f26ecc-087b-40cd-a51b-521b472842e7 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:19ff6f60-bf3b-4f5f-8655-243e7b351c23 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:45afab83-55ca-41c2-8cad-e0edac9d3780 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fb5fca6d-f2bf-4328-b0c8-493fd5260303 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3522f37b-b368-4f37-a88a-4fa6c9b61e4e phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fb5af814-cbba-4b4c-8a4d-57486cf0ddf9 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2619dc2c-44eb-4ae3-ac26-9e9e793f62aa phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:87050a60-9c0b-4659-8fd3-7d6056a1f921 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ada5081-fbca-453c-b9a0-7e66d59e2028 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4965632f-9209-41e2-a7f6-503aa75fd550 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4dde83ba-0c10-4dc8-a7d8-12b15318e411 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f1a6d586-f40d-4146-99bf-43bef87a4d49 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d514541b-fa0b-43d8-8241-749c7f534ca4 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3576646c-2735-41b1-96fb-830c2607d44d phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:511dec2c-a611-489f-bfb6-88c2c8823041 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ecb7247-ce05-46f3-9324-65ea9dd039f8 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:daa010e0-cfb3-4a56-929c-781dcbd15446 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d4f4a93d-42df-47f4-a7b4-4fe6dff276d2 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:d8296ec9-b88f-40b7-bf0a-53bdbdad0e98 phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:a7b61097-e7ee-4647-9fdc-7f0227d509bf phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:eb00646c-375a-463c-b807-152bac283be2 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:9c3f203f-6bcd-4846-82f8-4b141a46784e phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:e546cb68-deda-4a48-8bac-e27611573d5d phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:65e75816-38c2-4080-a221-74297321197b phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:d95a2bad-24ac-4bbc-a319-99f0387fccbd phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:967d6108-5938-40df-a68e-07531c5c1224 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:aa238921-3142-4783-be45-cfd4770e61a1 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:765ce9ac-05ca-4165-85c8-4512afcc4546 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:2afd5595-f5a5-4d17-b6ca-f2a3e694c732 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8347ea0d-884d-4a09-8bd5-d4b8c682b2bb phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:51caf946-7c5a-459f-9c1a-3ed0c88ca847 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0004384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:b8ef3d18-f1b0-4466-afaf-1cb116d8d8a9 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:54c2be3e-d637-4d18-9314-72ad355d57e8 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:46025d37-a9f4-48dd-9506-14c707b976b0 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:81783ba6-a747-4eb6-baea-d444e7ce43e2 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:62c7d35f-0a07-43e4-8ec1-3f0cb7925353 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7415e99b-45e0-4d20-938f-571dceca0368 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:dc333c69-fdbb-4e19-aa83-15897f77765f phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:683012c4-7694-47e3-acdf-7ddde2d4f0d3 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5bb6791d-8099-436c-9625-c578492b979b phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f568a14d-c07f-439c-b77f-58c8d6114a5a phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:08105432-e224-4005-843a-cb0f3bf54e49 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b85bd5fb-a371-4bb6-9a9b-30766d76e5a7 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a02665f5-4586-4c77-bb71-e1b02dc01131 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6c7e288e-c333-4597-bf30-97b599432971 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8feca9ee-af19-4d12-a881-1b30646c311b phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8395cac6-30d3-48b2-b274-9820405f2753 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:511e4869-e17b-4ce1-a43f-b4c234a3bc20 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:cb36c77e-5e40-4192-85f7-acc20f93434b phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a00af0d7-6478-4c78-9ad5-fdd5860898a5 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:11fbb67c-9af7-484a-88b8-5e7a4db49279 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:32ed3c7b-f85f-43a3-bac8-a4b3d5c6d1dc phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:cb494373-7f3a-42f4-90f2-aeb369a360d5 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f8bf350c-28f8-4b12-9680-ade387206f28 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e126f48d-19ca-4313-96e1-b26a7926cbf8 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a99f9925-91e5-44f9-8d4d-31bf1de58787 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0cc1342d-a327-4de4-a65f-3fd9c616c8da phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8a3b9616-76f2-48ab-b037-ada9a39ec078 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6ebd512c-8272-4196-be5c-46bead8e7c5d phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ca931710-9bab-40dc-a84c-0d6adeeae669 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:1a6af6e9-23e2-4367-aef4-c7fbae87bcc0 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:322755eb-e7b4-4329-abe5-357f18c509bb phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:27677e57-508f-4cd1-ad53-e2f9f503def1 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6d774f5f-860f-4ca0-b933-4614d9af235d phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:474b360b-bfa1-423c-ae21-64f283dee0d6 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:134aaa2c-cddd-4bc5-a0b7-ea21699ffcf7 phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:31e98449-2ecc-4cc6-97a6-a15ff65e361e phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:51c80452-af56-46cc-8f5d-56bcde089385 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:fae552d7-e1d3-4dba-8253-ffb45438f071 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:3ec704aa-23b7-46ef-9221-4156a06426a2 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:182b8dfb-a6e4-4707-baf6-a4e61ca9dc35 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:40c2c31d-d197-43f9-89e1-90b8f3f37b5f phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8235b94a-8a22-4a36-96d5-09760d8912b2 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:29d3ecbe-99b5-422f-9f79-beb44c1dddee phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e36d63e6-8a32-405a-8585-d9857605c8ad phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:666b6e7f-9956-494f-b834-1451b2f54969 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:54ff7be0-5459-4d85-968b-9a2c3ffa2b99 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:97797389-c772-4951-bf57-c9d48c17d1ea phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:baa40c84-96b8-4be2-8278-352a3207a838 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:12a70c6c-6070-46d4-9549-c0443250133e phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c3ca5710-5e56-4793-8fa4-1151ea06c2c7 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c5babf5d-c966-4f13-8781-aac480e7bd18 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3842119c-af68-4018-820e-0a082565d6e6 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0b06713f-1225-4929-a6ac-63e7c6b80537 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ac9d9456-10a2-414a-8464-45d1fc85a92d phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bcd5219d-0b84-436e-a024-dbe497686e57 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dd39fbad-5b85-444e-b296-ddea21129914 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d558a265-355c-4ccf-acee-033dc7f44c74 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2450c84f-4a44-4691-9187-568c5e2c4b44 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3edd092d-c264-4be8-8b04-df5fae91109f phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:db9b1e44-1da8-45fd-9f7b-e275c1d86de1 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:aafc10bc-9e06-4949-ad46-d67f81aad18b phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f1754f4b-e9f2-4d3c-a862-9c72b6dc50cb phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:080294e0-227c-4d5a-9285-1eab9c18155a phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:80717b8e-df3f-4127-99cb-f323c1a0f184 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d0d93bbe-a40d-4e46-8f76-545ec9d8ed51 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cff5dc80-eb7b-4ac6-a17d-eb1157e789b8 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:01a08b0b-66c8-45ee-9985-969f456683da phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6ecf27cb-8578-4654-9265-8d478e8b1d35 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:655d558a-05c6-4698-a085-edd64a8f2d89 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a16eccc0-a6fc-46ee-8507-546e90f842c8 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9dc3a390-97ed-4a80-b239-37732b76c4d9 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a0511e77-f4a9-40b6-87f3-1600d931b06d phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d326f012-db3f-406b-b138-703fe4c68497 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:51af9866-6cb6-4c73-9769-4bc97ac6a7e1 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0526c2f1-abbb-4ffe-9e14-34db28945d58 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:045fc178-c540-4818-893d-b581a43e0d04 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a36d51a3-3f19-477b-86da-bf3df4dbfb50 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:26a5f70f-1161-4216-98e3-0b2fc48d9ffa phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:049ae9b4-789e-485d-9b76-fec578c73fc9 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:69a8096a-fafc-44ef-843a-5a61a2da4f93 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c59a7518-a415-42da-86f6-f0c5f8ae0f42 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:89d24f67-fc76-4f11-8f2f-23b75e2ab6c4 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:49c3fa1e-613a-4e4a-a913-f1b607221830 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c71dfd72-0ae5-40cf-9856-9a2e544ff190 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d10249ac-cfc0-4e38-b8dd-863e7c7a9849 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d0aa670b-1df7-4097-84a5-f98202726e8b phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:72461b8b-7d07-4975-b85e-6957e3da98b7 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:491df877-78f7-4a0c-ad80-c7bf1b4132ad phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:15d6b136-6e91-437c-9b10-2d06960eb8da phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4d48d996-bb27-454e-9494-62033d570216 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:060c5cb1-0028-4a66-b2a6-1db97a9e4d27 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5d871e0f-d8f2-44cf-afac-9c9eb3595fa0 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9bd6b40c-c621-463d-9d52-386330663140 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:eab25186-844b-48e9-aca7-69ef88c5fcb3 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b7fbb35c-3a89-44cb-9f24-484ed5f1ba3d phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ded631e-4793-4597-88ea-dbb5b60227d1 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e8554b84-c938-4b4d-932b-b4d96834f936 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0bb9dacf-4d3d-48ca-a886-7181f5673774 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:955e1d47-12b9-4e96-b100-3b7f6736a771 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8093eaa5-3e3e-449d-83c4-b341c30fae84 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0d24eb4a-da93-45ec-a7d7-d8cf08085eb6 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:179035e0-e264-477f-a649-5bbf91e18db3 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1f1d5e66-779e-46d1-ac39-582a0e381112 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4095938e-3c6c-498f-b2ee-3d68db8a0fe3 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:37ddbf56-93d5-45f1-8510-d53e4715d526 phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:4a391106-c7eb-477a-ba75-6a5d4db245f0 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0010878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:054d40e6-8915-4f1d-b866-b9acbc051cc1 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:16848e35-cddd-4f22-9755-dbd41e61ce02 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:2b04be7e-a18b-424a-963c-8fbeddb7358a phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:d5ff60d5-c3c2-4a42-975f-272fa916069b phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:7657b1c7-8fb0-462e-9e08-b1d69eb15a4d phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a5804c79-8baf-4534-81ba-329c508cb667 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:7a0ffb5b-5a40-4573-aaf5-1242ce22df09 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:27afc190-6f5a-44be-b5f7-16f5c36b7606 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:fb4822f6-db4d-4372-b066-d37c7c961e77 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a49d384a-0d39-4ac0-9a90-a0f6de5d0362 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6c7e974b-9220-4f96-ad45-013c225a9538 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5e6dae41-ad21-473a-ba23-88f95af7b563 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ba1e2b03-b910-4976-8886-19ba1b7a39cc phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8a9d0595-57e8-4754-a4c7-f761082d472c phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e371bada-a1d8-457b-982e-ec2edab943b8 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d6cbd0fd-9ec9-4c9c-806b-9b28ae44362c phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:76f561cc-ddfc-4410-aafe-fec83feda533 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:06b79928-ac41-462e-81e9-7400e3df74bb phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:176b3801-f2d4-49e3-9c6f-10544318cf87 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:16ea707b-d2f6-416d-8f21-6c7a517c1f34 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e18983d8-b5d0-48f9-ad67-ae80bb48b574 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3d480c22-d4ef-4a80-bcdd-5584f72ffee9 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a3ed8349-c454-4743-a1f7-bf665bccb637 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:63e94418-cd1d-4e2d-bac8-590cee4152e9 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:eaa82553-c8fa-4a7c-9487-e10c3e1186a4 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7cfcc4bd-6845-48c0-a7e6-45236df30dc5 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9af9a969-04be-4e4c-9445-223e3e53bb30 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:44c8d324-773e-400a-a3d7-bb852842e56a phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:92ab2ec0-ea3d-4220-8182-7900447fa449 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c574d5f6-8006-44fc-a43a-7a8ecab83371 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d2d61ffa-9a2a-459c-91ea-621c877031b3 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b34beb32-56af-43ed-845e-ecd845197576 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7e5432fe-df04-4a5f-84b4-857e6d19b59e phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c5eef67b-643d-4bf3-9818-0c93998e256f phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5f61408c-42d0-475d-810e-dffd4ead57b1 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:790b46c4-d56a-445b-a7c7-2ebcac05f106 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:205c2d06-2cd0-4321-aab6-23dace7526fd phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3a4c9885-ff1a-488e-bbb1-def4a7eff84a phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2c1c409e-1e89-4d3a-85f6-4adf6c1473fe phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2722d8f6-e29b-4944-a146-0d328e61cd1f phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:379bc74c-e048-444b-9b02-b62f09ed36e8 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f387fb43-4b3c-4dd6-a5bf-0bd2ba888aef phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3500ece2-e7de-4708-acd1-b2eb1e6b1135 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ca28a5a4-d684-471f-b13e-3bb14df64df0 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a1d5a0a6-a5c6-457c-bf11-da4e42907ab1 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:dd23fc50-5cb6-483b-83b1-210368feaa42 phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:04172f49-24f3-41a3-8bbe-24e5d8560299 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y3M infores:phenopacket-store PMID:36053530 uuid:ba02e66c-d219-4d05-9a0c-7b74093a5d80 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:36053530 uuid:f941569c-e3ce-406a-b2a8-c92128c48a2a phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36053530 uuid:cef0addc-cb2a-4b3d-849c-61ef0c31093d phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:11abaaf5-d7f0-4d42-b2b1-000d4373a6d4 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:f19f01f2-de34-42d0-9ab7-7c0426b3b27c phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:b3f235ba-3733-41f5-8b0e-2002be441141 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:f6a690e6-49eb-4c1e-b16b-76bf7d21fcb5 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a88c48b5-a030-4ebe-9a00-6d02bc6e4b15 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b5a4b072-96f4-4555-b933-e1768c399fd0 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:f47a6ee6-80a0-4d1b-a26e-e8a91a1ee15b phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:0b4c2ace-a025-4d25-be6e-8ac6e8ad12c0 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:35eb3577-eb74-4cb7-b0ed-a8e93c3c3379 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2ff2c9ea-bfe1-4bf3-80ec-9acd23e7a8c7 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:267d82bb-49d9-46e4-9553-cc76564b47f6 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:bbcacba3-128b-4b29-9d49-9260c5fe616d phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:55b04a57-7c14-4706-b834-d8388b915d3e phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1a9bfd86-4086-47d9-bdc4-acb5c72ebf7c phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:4c9f79af-699d-4198-8725-2f97efe35d06 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d8edcb67-cb32-4cb1-8b46-6c351fdce4a3 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:6040dc25-527c-4fb8-acc9-5884b06589a5 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d23a8256-1f13-4dd5-93ea-41498cec9755 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:62ae5dcb-0b2e-434c-b192-dcc0881bab27 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:aa15a486-34bc-45b0-871b-0ebf68017d42 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:3806101e-0a13-47ab-a3e3-81058f3124a6 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7bd0bafe-5487-4508-9365-4fa28ea78a4d phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0010747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5eced170-9424-44a2-a7a1-8a91f1e0add0 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7caa4c0c-37e4-4e04-9c71-79e10580487d phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:6f6b33ab-f115-4b97-bc8c-6d392f0bedfe phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:0e880bb8-a043-43bc-9168-4fd085e3867e phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:cc9fe4f8-bfcd-407a-b935-8076f5b2dee1 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1e0e54b6-4597-462e-bced-aee3703a83db phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c8a9c38c-ae96-43e8-bee1-f3c2bf1fc0e9 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7b239240-a727-4beb-9a00-7ee090424ba1 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1e084727-9512-49c7-bf3c-50b13eb7fc7f phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:78fcce4c-b074-47c8-957e-c74439f4a78b phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:df2ebc83-e768-4270-8eb8-da0bd4c6f1ae phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:9e116aa3-58b9-4723-8a14-9336c105484f phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c8929423-8640-45da-8979-0bbfdbb17c08 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:eeb06c15-3038-49cb-a54d-6ad1107506a5 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:0fa3d769-b1c0-40e0-a84f-23798b6c1c01 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:29cb881e-6ad3-43a3-aad9-08e041ee0c20 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:213cd2b2-a546-4d86-9037-3e6acf985d39 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7c01e85e-ff14-4f94-a74d-6ca87b831737 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:74797dd6-18b9-4ed5-9e3c-58678d5949d4 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7c7e8168-2901-4edd-bfcf-88762348f019 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:703d711f-3324-4738-9f10-4356e109e7f2 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c50567cc-3e64-43f5-b726-e20e5cca1d26 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:f53d7d2b-840d-4c67-b79c-a6025f3a7df8 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:e2bd4ff9-e5db-4e26-abce-6ae3fd19ea1f phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:84b30955-4083-4a50-9fef-75e79c44a100 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:fc142a8d-6d0b-489d-89e6-87a7f84c1dfe phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:65d2a614-7e10-4933-be82-3c24c1085843 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:bddc3cf6-625b-4ebe-ab92-710a30d1f0e7 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b88801e9-ee87-45dd-a4da-d952f063cab9 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:33c46278-5ec9-4c80-954d-8c794253fff6 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7a14f0b5-1b64-4500-8209-afd98a96033a phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:8d0f1af6-d6bf-4b47-aed5-afaad759d15a phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:83622fd4-27ea-45fc-9781-b7baac38aad5 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c013c075-65b1-4deb-9940-83c27ba0c406 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:271e428a-7932-4b8d-9f4c-fa898be17ab4 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:01f86484-943d-422a-aab3-19a8eb55484b phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:36053530 uuid:d8c7ee16-818b-455c-a4eb-3d9ef7a2bc86 phenopacket.store:RERE.PMID_36053530_Case_2 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36053530 uuid:e576d5bb-6d72-427e-9b5a-749ee9d5cbca phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:811d5a52-74fc-4838-be3e-74f830b6b1f2 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:8f7cadf0-c1bd-4a14-9d43-7bdb0466640b phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:51d23df3-83c1-49fe-a8fe-e39c82515ddf phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:22629c88-b15e-4ec3-86b4-3e0911867126 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:f9a46d64-c301-4924-acf3-ecf06b0bfb0a phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:7cf02f5e-8d51-49ce-a04c-6784ad930a62 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:13c29ac8-3473-44c3-97c7-5189777403a9 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:4d326249-29e1-4852-83b7-a5d3b82cffee phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:617a5001-d47e-4158-98e5-b0d1fee083b7 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:3ba4e402-9ab4-490c-997a-b35d9e4e3c34 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:30794966-3b59-46e2-8aba-dcbb7eca1cdb phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:571f01fa-e789-4f88-bcf8-097e504df75a phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:ec635739-e9af-4ac9-9ff2-ef76d4484eaf phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:410e3b09-5ca4-48ce-9eb5-6872a181f653 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:80b80d01-e5c3-4ea2-b71d-cab5c830f279 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b8745ed5-fb22-4d60-8753-b32b8bacc985 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7b6ba37a-8b13-4509-bbfc-fd6c3540a002 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b5147f7f-ca6a-4858-b1ba-02991844fcb3 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ce735264-42c4-4a6c-825b-0d466fbf2843 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:77eefea6-d332-4727-bb6f-807a74b6c295 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:195c787c-897c-4c4a-a464-ad4599bd497d phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:19c4ec6d-2611-4398-a54d-992c6e60a1b6 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c6750208-b3d9-429b-b381-4b1caf99d24c phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ca6141f8-19fd-4c96-81da-5ed5ada6b7c5 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:eddb82eb-31b7-4262-ad16-e52715fb5a58 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a78cd222-a786-4040-8951-d22443f54627 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ac80a97-529e-4514-a3d5-9a85be2ffea1 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:08cc9c2f-cedd-4e10-b6e4-0591683bc478 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:68102141-c82f-44ff-92ce-f4611e37be04 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a91ce7b8-de4f-4316-9b85-7298952b3a1e phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8c02f006-5b41-4c7c-ada2-7dd34475c680 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fbb092a4-dfca-44e4-8bf1-6c72e0c0759b phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8c4a71b3-8031-4437-8642-47a6eb3b38ec phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0dc46746-888a-4480-9ace-4f52d878c395 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d956232f-cda9-429c-aba8-418f4cf22368 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:573d78a3-7801-4557-bc18-630d1e3aac81 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:98f2636f-8290-4689-a721-230331f4a439 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:00e718ed-afe3-43be-b265-9ff7b9a45f60 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bf1560ec-8ccf-4c51-923e-8d8b04ef9a3f phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d55b594e-c5b9-4d44-a846-d9bf0383345d phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:02bde90f-d56a-47dd-9389-f5b92fd629b4 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7e3c026c-b2e3-4858-89bd-9bcb9b8c44da phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:846bab5d-2ba9-4b54-bfdf-1939eb796372 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9bed677f-4b20-4646-8e3b-16bd7f47917a phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f9e1d5d2-4731-46d7-afe3-06af27b5e335 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:70c059b7-ed52-4ca2-be73-5cf6f3df9e7e phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dd5330ff-75dd-4a08-ad8b-feb2b8616162 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:be0e971d-bff5-46cb-8964-39fc6692c11b phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9b0480a9-bbbf-40fe-b476-31bbd5e31f2e phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b180c213-48ab-43e5-bfa5-8c7bf6457d0a phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:771f9799-2277-4be2-bdb0-1a06efcbd1bb phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d46186fd-3ed6-4224-900f-605c1f58fec8 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4b1fc928-1c2b-4cdc-b0d0-3f3bbe961b27 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:56484a24-f790-4b15-80e5-7b0dc87f0414 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:151035b9-3a38-49b7-860a-71eecb47e2b8 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:33a68ae2-8bd8-4aad-9480-500efa6c3c34 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ef2672f9-98aa-45c9-98bc-3f19267f6e2f phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c7f02143-b2c3-4582-979f-1ffd4119b273 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8f938ff5-9b0a-422e-aa0b-2017d9864efc phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:176786c6-2159-416b-a5df-f0b63760d397 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e30b03c2-7c7d-43ef-8b06-a88a173c5661 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c2a5d4c9-c41b-498c-85f3-3a1bd6db58c4 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e0704c45-e38d-48e3-9ee6-3fa503a8e620 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6568adad-b1c4-4dd7-a912-d5160916d9f7 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e0df7482-9ff0-4810-b5b8-230ba35a219e phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7c906443-7a20-424c-a2c3-53bed3820fb2 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:82b7fbf1-26cc-47eb-9c2f-2b319b63d0fe phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:58305ede-642d-4552-9f20-aecfc93e8f28 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:77aecd7d-e45d-4581-88ac-992ead6dd4b2 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3bba2856-017d-4015-8e2e-b63974046821 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b24d9ff6-aae4-4a1f-80d6-0fa0fe8ff4f5 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4a92ee02-b81f-4f7e-9a1e-204725698475 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8a218cfa-7095-46f9-a955-c8b38ab53b9f phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bd26efcf-4838-42d3-af3d-292ad7515a26 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:51f3b777-f271-4f50-bdc7-9f0a5e5d1750 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8672d271-472b-4a5f-9cfc-7d794bef5c40 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9ab5f36a-ba5a-458a-b1c7-739a41473a5d phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:da79415d-214b-4543-9296-60b762bfaacd phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:8b57c0b1-6364-4bfa-9092-2d2b58212768 phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:022f8be6-e9d2-4423-9e3f-a293e7a64715 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0010945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:877ca1c3-22c6-4f5e-a612-c07281b6b3bf phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8d154774-e82f-417f-b533-bd8b3f0d6d03 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:586b599a-6f74-45e3-a68d-8a9610dbb759 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:386b6be4-b278-4064-83f3-9af9ff8e934c phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:43300ef1-f1b9-4fa3-bad0-a7bcf29831d8 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:2889b76f-41e9-4f4d-87c9-184991eff566 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8408e0d0-0a2f-40f0-8429-b1dfaccadbac phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:b2902166-a059-431d-9ee5-1f64ea3600cc phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:3be2a180-23bb-4fa7-82a6-905a5e5f7df6 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:2431508b-e532-4321-9c86-95e2f6a8545c phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0004684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:06aa0826-5668-4a6e-ba49-7e9bc904732c phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:703c1337-a1c3-4c32-af2a-8b9317f79603 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a43d8bf9-d918-47df-b793-7af26e9b651d phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2f23363d-7e6a-47bb-937f-121ee791614e phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5d2b1bc9-a420-4254-96f8-51657606030e phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b52224d2-0783-4fdc-bb0b-e656d8953872 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:30c3a8c1-1a42-472a-a16d-5bb8f20ddcbd phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:941f2603-c22d-43ae-9633-861cccd257d4 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:640067dc-90e2-4daf-b270-72cf6c18c8d8 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0fe44a14-f903-47ba-9b52-107d58c86872 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:065ca1b3-8920-4111-b94e-c626ca2c4387 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:967b5e02-ff81-4cc3-8d9b-9dbe01712300 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9f8fe90f-b793-4886-baff-dc93af1ba55e phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8f4e6073-3a6c-474a-88d0-967258109a0b phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2ffc1d2b-dd5e-4d0f-9577-d7df5e0dac9b phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:368bd00d-70f0-4396-8fd1-31693dba83a6 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:84496ee5-464a-4b04-9a45-61232866f683 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:925182fe-2636-437d-8ce4-b84fb0ae625e phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:68589ccd-ac6b-4cf0-be33-6331e4d116f4 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c528f5c2-9d9d-42f6-b285-f3d0404e1c95 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:629c9c98-a904-4ca2-b6bf-52f09ef72941 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3e555097-4e98-4790-aeaa-d34d81fe308f phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:1dd99845-234e-48e5-974b-0ee230d244b6 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:03479d12-75c9-4f26-866a-1956f3ef242c phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:cf8af87e-b7e7-4612-ac45-a939e8c4262f phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:581f36e7-6172-49c8-88ee-421ecf80819c phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b187abed-5fa2-45d6-81e5-e3dad60f57e2 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:555b71f0-72fe-4457-8198-329952478ad1 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:58cb79f3-2eb7-46f6-a247-1664a930275e phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fc10fa95-0f20-469f-8d84-1fb49b0797a0 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7dc5fe8f-678c-488e-a02a-e79816a2afcc phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:83e11bc5-fab9-40fb-8ecd-e6371ef610bc phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6df89e4f-7781-4b78-a306-7f3e4cc4ae15 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:47973b93-279c-435d-833b-811f9407b3be phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ce50b35b-9310-4bc1-95b4-62bd619e003a phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:219b2631-be0b-41e5-ae0c-a2531e45cc5d phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:49170d9b-46e5-4adc-bbd9-3c902cab1fe6 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c717dea9-c85c-4eec-8322-7ace692616b0 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:b9d0ae39-cbd0-4895-816c-0f4452e01893 phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:e79b0948-2ec5-45dd-857d-8309648c216b phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:b4331162-8552-4478-aede-a18a3b866fd3 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:c01b2de5-e271-423d-a039-05fe736f3953 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:6b9d31d2-9551-422d-9f35-f41968da713c phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8afe83f2-d9fd-4b51-8f1a-9fb675ea9e07 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:36b6c13f-f6fe-4610-99c3-a0b14841713f phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:61de7842-5a61-4107-89f1-8c85305a23e1 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:be3b8341-7644-4d80-8311-46905002c75c phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:745961d4-831f-4cc8-a77f-3b9a6bf2f01a phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fa1a2607-3cb5-4d8d-87d4-d02feefd8036 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:13b24952-c3f1-49a4-a36e-555c6c2ce925 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ccabbdbd-5f83-445d-a1d0-be0c2a603c33 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9d457f90-bdc7-48e5-91f6-04a20c8416ef phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8cbd6572-3305-4c08-ba4b-926a31582cb2 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:dcbcefaa-e293-4e0e-aa12-525f4634139c phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:052cf453-2e36-4198-95f7-b8d003f3c319 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a96673d3-38f2-43a1-ac34-68f3e9fec05d phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:660fb0fa-d67a-4864-9deb-9df64ed48328 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3ca2c2b7-533d-4c61-833f-d235954f6edc phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:4cfd4c0c-0d0e-404d-a2c7-f9a8c27f812d phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:32ba9229-ae42-4217-9c18-6401eb1caba4 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0576c161-b40d-48b8-999d-b2704ec73320 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d40a055e-5c48-4037-9a9c-3967ac6f73da phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:97ade3ea-69cf-4cc5-b14a-716d6c729ebe phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:487acd16-e0f5-4a5a-93f2-ddad236756a1 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d4a2a509-e777-4d86-aab8-0c8e9954d5a8 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9c823b79-6cc9-4892-9e86-a668af096be3 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:88729a08-9e52-4160-af20-d6ed6cbe6493 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7a661b5d-fe04-41e6-8569-a61b0eb6ff3a phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5ad91cdd-a505-4fe7-8609-84151ec65555 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:397e32c6-0b1e-469f-a19b-ce3e7b384cce phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fbbeb9f2-eeec-4f9e-a828-5eb011a0ebf8 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5a8e7126-630a-4433-924c-5349f7477fc4 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d31ab045-d118-4d7c-abe5-99293286dd2c phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7919fc69-937b-4218-9397-d410c3cb4477 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b26d055e-0e49-47f9-a9e8-8dc41b4d8f51 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:449848cc-f510-4a7d-96c5-1a22674de336 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:4300e536-c807-4e4e-afad-a8d79aa295f8 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3f380f6a-460b-4a9a-b5d4-9845279c9896 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3d463d88-6b1f-4341-b121-0652d6c1d1ae phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e4944ada-f7d1-4152-a316-f764d632dfe0 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b2da4072-86fa-4ad4-837d-a2c468649596 phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e11f1102-cd91-42b6-9c0f-402f6a4721ec phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:7778949a-b655-420b-8936-ead2721f736e phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:18cc46b9-e7b5-44a0-9d08-b7cc10ce052e phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:63ef51ba-57a8-443a-bdbc-da29e047ee15 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5759582d-b542-4bc7-9541-fc975a202d8f phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:1eda3dfb-0d2f-488a-bafe-36faad5897ea phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5c6c8623-77be-4862-9ba7-80012248ce85 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:0cad52fe-f8a4-4549-8085-db00b69dfc0d phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:4c7ca07f-b294-441b-9711-3baab8d26e5a phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:211ad44b-e75a-43b6-a0b5-2cde91169a52 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:93f091c1-4b1c-4a16-8faf-1cfa57226d6f phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:492233e5-1563-42d0-b733-5ae515000470 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:479bdb3e-3910-473f-b048-c18e85193ef7 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:be337486-e625-4cf4-9b56-8a372aa69d19 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:3f5583bd-e528-425b-87e4-f82278c6cbf6 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:6c47386d-d749-417d-9c97-6e5f66a00b27 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:09a34c1f-637e-4697-b042-3c8d69576e96 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:2759cdf8-80c8-481f-9f41-be78d0ad795a phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:7d8e6bec-2139-43ba-b2a7-cc766b24eb25 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:a679f3c6-4729-4326-b1ef-a7c551880b5c phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:3d1fecb3-af07-4fa4-af79-14b0a2748186 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:62261a33-8795-4b9a-ab57-59f4fef8939c phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:9cc73bde-4c9a-4167-a37e-26533a2829d7 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:a7b905c8-feb6-47d7-94cd-8c0a919b1f83 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:c8ed523a-5d44-44f8-894b-08e245fe6c72 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:dc5bd257-fb0b-4794-8368-ba87b30599df phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:076cfd00-c5be-4b78-a57c-95508f53d77c phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:72b99c28-528d-45e0-9061-dd151ea73306 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3c148482-d911-4666-a1cc-0b28026d39a8 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5f04ff3f-d955-4e0c-b9d0-07a2e4a35dd2 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d07cf079-4b60-4437-9b69-c99eb471fc4e phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:589e4c71-8ffa-499c-89da-f026cd096283 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3f1c2eac-440b-4f81-8446-cdce35e2c982 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:79e8f727-cf44-4385-822f-e96fe27a21e4 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6dd39601-e965-4062-851e-1c1967070162 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:feab1060-e6ea-4297-9814-f06fe394d941 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:acf517aa-61eb-44cc-a674-d59e2d0c767b phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:70c88d62-8cf4-4ce3-8e91-47523e4625d0 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c73c1b75-0f0f-4a33-9d64-f769f64a444b phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e830fb5b-3ff5-4304-a10c-7af08666cd54 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:557595df-1e33-44d3-b272-94dc3bb0421f phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c2c5a007-3e05-427f-a940-97ccafab2320 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2ff50435-2af0-49fd-9d22-f849bf264f0a phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6c96e0bd-24d7-4a1e-83dc-ae3f25eb069b phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b9111ecf-e7cc-43e7-8008-3f6125409703 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f10d3f44-7746-4ff3-a376-426df62b519a phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:365ce480-5c1c-4f32-a488-56a8ebe55a68 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6d46f0f2-eae8-425c-9d34-35b3e4cdf7d9 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8df58b63-8a2a-40ad-8d6e-51f285f8e641 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:df30a4bc-04f1-48c7-9904-e6b21d1ad74e phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f6d13310-50b4-4a7e-a2b3-d61ced5d3d5a phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:43b973d2-bb96-472c-bb53-6f1e0a5b00a1 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fd6edeca-cc88-465d-bec5-7b81413f8e4c phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c9862928-9442-46c1-b894-a3106bc4fa2f phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:04f0e2a0-6b46-4ada-8028-3bb605c504cb phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:63c67d02-9772-40b1-bbd9-ce421927a4b1 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9ca930fa-453d-4140-9bb4-6a444deda3ea phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e8cae5ed-ba0e-49aa-9e85-1d16a7a28b0d phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:162b25b7-be02-45d2-b413-4569bf8f9d68 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a07ba331-cb35-4456-a5a7-6d649cafa854 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:483ab01f-0add-431d-b0e3-37222e5cc442 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a06d7067-e5a4-4a35-838a-ee0d869a0507 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9e772155-fe26-4fc4-9a44-56ac1ab12032 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:01a30bec-6613-460b-9bf4-f0bc09eeddfb phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4a68712a-5bd0-4ea8-9064-3743930f0ed6 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:867c4dfc-b4f5-4d12-830e-cf8be146515d phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9dae6082-7603-44d9-a256-cc35bd027613 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c371c94c-180e-428f-9e40-18c7b0e0d506 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:125f9999-bf8f-471f-891f-c65c0882efaf phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:db328b75-befe-4f8d-a7a8-1b723f5a234d phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f72f43f5-4589-419b-933e-62611a5a7d02 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:229b5dbd-41ac-443b-8191-11b9523280cb phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e35e7783-e3e2-4984-a948-1a53c9ec69eb phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:13474022-b22a-4db4-abd3-bd5a98d403bd phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:87f68bad-e966-4bc0-aa25-c91a9e7ba292 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:499f0600-079a-442c-b151-c9ab76341abb phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:aacae1e9-44ad-464e-81d5-a89a9480f138 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8e02089c-5d29-4e43-b4f1-e2ed1b868dc8 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4af9a926-9cd6-472c-9f66-d85121250966 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:93b1cff0-4b9b-4797-b078-c9c64b28ac9c phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a86cbe99-0dc2-4ef0-95d4-a5beaaf969a8 phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ddf9aa0-836c-456a-8e99-751be3932e6d phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:2de63367-9007-4985-93d2-7249b6a831fb phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:1376604e-673c-4bda-94d0-06ba5927329d phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:47df3e90-dbc7-46f6-8f2a-4a9ac86b34a4 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:56d6635a-e11e-4b9f-ad49-0eaacc1cfb0e phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:e36a7503-17e2-46d3-8485-c57e5de40a64 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:c761aca4-730b-487b-9e7c-3e92ddfb83bb phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a9787b43-ca05-469e-a8d7-decdb68e17f0 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a9d796c0-dcbd-471b-b4a8-25e3e7653fd5 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:0271b6d1-e685-4619-b5c1-3314b4bc251b phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8b49136b-8381-44f4-8a00-bc53b5c62d83 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:aaf825b1-d0ff-4ef1-864d-346a66e301e6 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a551959e-450d-4bfa-9659-cb33ef343f16 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:650bcdf2-c775-4a3a-a4a9-3f41032b1905 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0500b724-752d-4bc1-992c-83571159b15b phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:47e5f08a-3b24-4ecd-987d-0a225a9505c7 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:33997e43-bb13-45a2-aee2-fe0b9c3ab889 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fb276dbe-3f39-4cc6-b1cd-6ca93bc276fc phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a9443ed2-546a-4781-ae8e-1224e89aa3cb phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:bd32b9e1-bc1a-4d40-81da-05902c9d4458 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:422a8467-c667-4ec8-b1bf-4292e4cea727 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:67e3ef4d-5c8d-4438-a03f-06afd4b067ca phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a874d908-f17a-4dba-99c9-9327e7329bb5 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0f1c8b4d-35c2-4c8b-842b-851ea6623865 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fe920c22-22ae-4abf-a42d-d4572fa2fa0d phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d3963988-6896-4ef5-aa72-2bfbdd359765 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:26bbe4e8-2fa4-4147-aba2-19762da6cf43 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0556318e-9b03-45df-83fc-d9bf30b85bd5 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f77e2729-dbbe-47d6-84f6-69959f084ca0 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9d83b7fd-d9ec-4cfd-9665-6e22ed3148fa phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:cd2d90cd-d736-44bb-93b4-d0ecd4a7cf4b phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:281bf036-cbc4-44d2-aff7-9ce5eb5f1a32 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:4ff2ead3-a6e9-48a5-a7d3-fdb8ac3415c1 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2fc201c4-952b-4c32-a9d5-b32d25865590 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:228641bf-a3b0-4741-8a97-bb51109dbf8e phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c4de92e5-6e6d-4549-8ffd-95dd447af6cd phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:207d570a-a7c3-440f-8762-65a39f88feba phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a960f02a-dc3d-437e-bb84-79d31f1b648d phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fdfd1896-a56b-49a4-a1d9-483301c5b63c phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9e8516b2-8331-42c0-b6a2-5a8b290a6f0a phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:03a6048c-e863-458a-9221-8097e364d834 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0da828dc-e5ed-406c-bb10-fe8bc10263db phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2fb29e35-e919-4713-9c53-6954964c61b8 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:1bef3f98-91fc-4073-9063-dff619bb07f2 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9bc5d03f-3ca4-45a4-b507-c98c98b2c28f phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d913f89d-cd97-4684-a0a0-37453004ef42 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:473d7a86-a266-4d54-b16d-119a67327ea4 phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:4d38d283-150e-4350-8ecc-8119aa203e6d phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:424283e0-d667-40ed-912f-cdecaea31e4d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:27087320 uuid:9e476058-35b3-4bbd-abb6-63a869fc7b2d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:9d5ecf93-593b-4bc2-a5b1-e8071a6c5416 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:b79da120-117d-4982-927a-fdf8bcfd3b48 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d6afeab2-fc1a-4500-92cb-79be13e42afa phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:c5470be4-4e7b-4e30-8291-e769b818df9b phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:0dcf3034-f8b2-4ed3-a203-ad554891a9a2 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:cd795f4e-ad22-4254-9071-de1efa488a6c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:6c67d9c5-1bcf-4f59-957e-8baff00ee14e phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:4750b52a-6b9a-4971-970c-b080d965118c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5b01d3d1-7173-4d17-a11c-a2a3885df072 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d2c7b1df-a1fd-42be-8278-810094406305 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5b27073c-dc58-42d2-8ef1-58d8c79c1c88 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5b806ec9-dcdb-41f3-a74b-64631fcb8b9b phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:9fc32c57-e911-4d48-9e57-bf9b0423e926 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:48d848d4-4a6e-4773-87b2-157ccdbf90fb phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:4b026ada-733e-4c0c-919b-0e64a522bf20 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:4e113752-da58-4140-8941-121e6b6ab88c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:cd27cb8d-ca8c-485a-b529-5b1c3adc4d2d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:559b0dec-b37d-4484-8583-c8a78afc41c4 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e367b489-7396-4d97-911c-c974e60d1421 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a2957419-9eb5-4456-a458-93ecfe438426 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bffc724c-852f-44d2-bf31-f5b48ba5397c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e0ac488c-f19f-42de-a0c7-17e087e56187 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c983055f-090f-4d0f-806c-cc67025109ee phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a050992f-e032-4f12-af47-4e2390ccde54 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0a2d6b72-a10f-4d9e-b29e-2fd8a2b94342 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:134e0755-3fac-464c-a9e9-17b791266cad phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f3638ebd-80f0-411d-b00b-6e222bdf1b46 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9a219d1f-5ba9-4659-9b86-e37121275cc3 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:82d890a9-5ce2-4549-9ea0-4ce340830d1d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fd4c4e74-9700-4bf9-b037-7ea8087e1865 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:48734ed1-ab9c-4eeb-9009-b5a6fef0b734 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5eee3701-57f8-4618-9490-fa7c3dc9aeec phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9acfaf68-404a-425c-8b09-ecc3c13af287 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fd261ef3-a6bc-45c2-837e-e4f58d31951b phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3e4d525b-0431-49a3-af01-1eec9312036d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:370b15ea-0169-4f70-a5b5-c39c554eb76d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:529a1fa0-6e0e-47b1-abff-106e4d4260cd phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2d6316be-30f3-4441-aeed-3427dab9ee77 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4359dc74-a7cf-40d9-9b27-5290343c1122 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:578a5cd5-0311-43a5-bab7-19991e18c24e phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:67a62e4e-1aa8-4db2-8b9f-9ea94a12c8ea phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bb57951b-143f-412b-b537-4e72918c916d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b3d868f4-5a3e-4c9a-8c18-e1c895be8a78 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b2b9508a-cdb5-4f4b-a637-5dcd61f76e59 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0310822f-d801-4958-b2bb-84b0f9ed58e3 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bbeffb12-4c98-4023-bbd6-adc563fc0356 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b497f8eb-1c63-4a35-bde2-892a5aa00169 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:57252b2b-563e-4f2b-8971-8f96069fa7f6 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b012744d-1fb3-48f4-9115-fe1258854598 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bc0507e1-2b43-40e4-9943-26713bce00e4 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8d95b1da-59da-4a10-8410-f6f8cb5df09c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1a72777e-a6bf-40b6-972c-780f39842ef0 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8e7a8ae4-2d0e-4d76-983c-38725f00f540 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1609e3a9-bb2a-406b-8b7c-a4134261db2c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:37886faa-c519-4a11-b298-db3c4f8cfecd phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4d496f5a-13ef-4ef2-8584-38160fa45f27 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:87821c64-be50-4b19-a8f1-ed40c20cb54b phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5ce3d911-679d-4807-bd2a-0d210a5cb30f phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:22d7225f-7a3d-4897-bcc5-b230a3aa87e8 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:603e0426-0c9d-4cd9-8f58-3dcab37fe0f1 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:98c946b0-4ce1-46d2-a6fb-6c53e012f4a8 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ceabe5f0-7b7e-4231-acbd-aba37e17220a phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1e03d4f6-ad8d-4717-8da4-b37b1a4a5831 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f471472f-fbbd-4557-8d5c-6a5d79ef6917 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9f5017cd-9094-4cad-9f35-ce69884f7918 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cf577f22-7a76-4591-b70b-fe8f52b60488 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b9eb631a-3eec-4595-a04b-0efe56ffdd77 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:391c0fb4-72f0-4aa8-bc1c-50a1657bebd8 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b5d3371a-b50f-487c-9a6f-8beb9e56d19b phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c0221cf2-39bb-449d-8e35-e34817b8c630 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5bc9888f-5e9a-4c6e-80d8-d055f3d11739 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6a3a167d-94d5-4010-953b-9073a094fd7d phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:993320d8-bd0a-4e63-9d12-ea0265c5d61b phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fdc48987-ca04-4e26-9242-8001d1f9cbf7 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:97774bd3-3b69-4224-a912-6033ba59341c phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ed756b03-8f64-46dd-be5f-4e5ec39265c4 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:85d767f6-bc76-4542-816e-f86f26ab61b9 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4d5c9a27-a2f4-4e7b-9428-d2fbe47875d3 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0aa61429-084b-4101-8679-f65ca84cab30 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fb9c509e-7f42-4b44-97d1-02ac6ddc17a1 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3465a08f-b9ab-4a00-8154-990cb030b556 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:56d8a9e6-b175-4626-92e3-486847e4f7f6 phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:375b118e-888c-4a15-8570-74a5d54b669f phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:88a80861-0edf-4b15-b852-d8a84ca8511d phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:9f86b750-5f72-4e61-b9f3-26bca42edec4 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b7ad9985-13d0-47a2-9122-811b0738b92b phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:4a39ccd2-51b6-4f3f-8f3a-6ee4884db2db phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a2911a0b-f115-4506-886b-94d3bee39c8e phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:13cf9bb1-f117-44c9-b53f-2570fa893a5e phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:ab0f68e3-3d20-4a40-b2d4-c8ee8b390ee6 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d58319c2-207e-4e27-a268-23d68561d0a9 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7525e47b-4cad-4351-9bf8-f6e4caa17f7a phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:ee54ef4d-7845-44de-b1a0-21169e4bb67e phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:958e0fc6-1cb9-44c9-9e52-223b6b48f578 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:145a783d-d60c-414b-ba05-3cf020412189 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:e3989041-1a43-4cff-9a25-3cbce9b82646 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5e0df66d-6885-44f3-8996-c68b65fcaae3 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:42c4898d-add0-4d84-aeb9-199242283000 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:69e6d8e9-9dcb-4bc2-85ba-02ce40024628 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:6a335b52-31ef-4752-9fd1-8dc2cf001469 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5a7512b0-9695-4157-80a7-77101381ae75 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d2a6e121-a353-466f-959b-555bdfa9a46c phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:12d73140-3a89-468e-8bac-084f2b988b21 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0010747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5990c47d-58d5-4b77-b8e7-14db543e6fab phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2e976ac3-41ac-4bf9-b0bc-48ee91eb100e phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a1af4d39-2dce-4387-8730-0d3fb7ed007f phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b25e9b7f-c39b-4f71-8ce0-00f2e2b5be3c phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:617f3630-b8b3-495b-906b-50dd79d0711b phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:408aee45-bb28-49fb-888b-0a283e312fd6 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:503cdead-27fb-4a71-8340-9c193da16232 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:0158dd77-1754-42d8-a2aa-1c8605a15135 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2df5fbc9-223d-4227-9e37-107416af1190 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5e5281a9-f777-415e-acc8-e4c4de1a83c8 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:39e95532-feef-405a-8b05-68fc2b4550e3 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d4507729-c62a-4d20-9f5d-786e00cde0be phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:f1dcc4b1-1c57-4c7b-97a8-0c33b2e09edb phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:ccc2545f-ffeb-4ff9-acc5-6db7cc17fcc9 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:3bbf528b-35e5-4ad2-83a9-c76e5e33e465 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5a7650ba-0798-4ce3-ab45-2ce135c2826f phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:9790760c-94ed-47e6-b780-77dcad4b8e46 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7280d966-cc76-485c-a2c3-a2950bfadb6b phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5c3c50d3-464a-4048-84b1-432a471dbff1 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:05874a0b-3d52-40e4-b61c-6d6bca76ac33 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:f90f9de2-2a24-461d-9b2a-4f30589f2d6f phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:140f1ef4-17c4-4d80-a488-9bc11a12da6e phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:4e1a712c-6a45-4f10-9ec6-56dd426adbbe phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1dee7fe8-c5b4-4301-9b53-4d2c69dd1547 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:364574d5-99ec-4b1c-9322-1b2996dceeb5 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:cd8dbee6-e8b4-4083-94b5-4ac51cfe57f0 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5a492c53-19c3-4e63-bf6f-bffcb10736b8 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:9fb627e1-adc6-4b3a-a371-14f3c6697f79 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7840d39f-4e55-4b2c-854e-8990ed32630b phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2f60632f-676a-4d56-a23f-466260e533cb phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:892c2abd-b797-4383-91e6-d8ff8284378e phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:3ea01aea-8266-4837-b0ac-fd0386566182 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c60a10ad-876e-4e0f-a993-1d65486c8c21 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2dfe6b95-deb1-46db-b394-0657d7386c71 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:fd4e7f20-f64c-4a40-84e0-a58b7906af7a phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b6b8e489-ec9c-4980-828e-cc4ce0096b26 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b88aa7f4-8f37-4966-b12a-4a196e241ea0 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5bff20be-9eea-4015-ac1e-f9ede711eec8 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1ce71430-14a9-4819-90d2-8a945c9e9ea1 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d147c630-7510-4c36-ba01-c7a229cd7687 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36053530 uuid:92d3ad07-d62b-4f5b-a9a0-0cad9fd942b1 phenopacket.store:RERE.PMID_36053530_Case_3 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36053530 uuid:0cc0b6d7-dbf8-4093-9dc3-3db6f2177b8b phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:88368762-93d7-4dd2-ba2f-ec52b240b480 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:722479fe-6be0-4cce-bfcf-28d445691c7d phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:97d2d67e-32a0-48d1-9221-c44344015651 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:50f3fe50-d987-400f-9549-861239273d31 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:7817b2d4-8079-409e-bfc7-e5af09646121 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:da4501bb-6589-4cca-953c-6c958091384a phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:84effe61-0ffd-42f6-b2d1-b19c33dc76f8 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:f6a71d07-b8df-4299-ae19-42a11510c416 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:c12af574-a318-4082-8b71-e61d1131929d phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:66c62205-6841-4b71-bacf-88fc761999ca phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8c212534-63c5-42b5-9e5e-3ae3079d9365 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:adb506da-5f20-42e5-a748-d3781bdccb11 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0005989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:8b310318-a706-4bbc-ab90-f02180ae2c47 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a8df0f88-188e-47d8-9519-3c505fb26e7e phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:10d6ea77-1e3c-42fe-8b5f-e397820a56b9 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b8ccd047-d12e-4fb7-96e9-838b674be6d6 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:245038f1-ef6b-4217-bb78-099e5bd4ddf7 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:4ed19b79-1d74-4751-9c5f-980fe5973dc6 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:bded4677-39ee-46a0-98fd-e822a2ea128a phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:378d0740-935f-4aa0-928e-a3cf7991b547 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5f574373-dac3-4945-8a30-24ae701d40d3 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:720579b8-c6a0-47d3-bcb0-db8b6a9cff11 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b22f7651-13db-4032-9cf8-8085300f498b phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fdff14ef-6094-4c08-b9ce-5102f38d404d phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:046d9967-6533-47ec-8617-2c86e56b8a33 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:370a37f3-b6b7-44d9-bd4e-f0f7571a0730 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:59cdb608-a0e5-498e-8ab4-5d0112240be7 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:428c83da-db78-4ca9-90cc-abc113de34d2 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2cd7b685-5d23-4af8-8f11-e3b3b5d27adf phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:47f6f166-e81f-463a-b13b-844ee594a62e phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:26b11c6e-f166-4b9e-898c-caae7fae7f97 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:453f57a2-cf25-4cec-b622-b3c0c88b90bf phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:772c81ec-8b2b-4f98-8830-880d78c01deb phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7a7c9a8e-4336-4537-ad14-f6139f002f57 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:14a82c80-db00-4a90-8765-d6a612e3baae phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:03602456-2d45-42ef-9e18-f17ee115e073 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c5d16da8-e2fb-4d87-85b5-72019a29fc77 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:44e14a03-c9d3-4ffd-8296-6fe9d77c1fd3 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c22b1108-184f-4eff-a2c2-bc52ff899c03 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:500dbe17-9868-401e-8a36-044c6b956339 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:79faa0a6-1e4b-4470-a06e-1ef09a2c2172 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9650c44a-a56a-432a-9217-1216a2b92955 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:22478070-9297-4484-8c7e-bba7e57712c3 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a93ece60-923b-4968-a40f-a8e8f4c5d380 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:54620f41-fc35-4b91-8129-d68a3c532b55 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:10d6393e-abe8-4cb1-bf30-8a97acb9a766 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3caeb450-b22a-4b9e-869d-a92193faae48 phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:453be0dd-f22c-42ab-9e05-b16987dd1c8b phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:fe1664f4-7c52-4623-a19b-7f0aeac94f5e phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e0f3de51-3644-48c4-92a5-b3d47d1744b0 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:2aaeeb09-5923-4ea0-88fb-ffc340a23ab8 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e82ccdfc-d89c-41c3-9e57-04177cddd3c0 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:065fd788-6899-4e53-bd84-d87c3001d2de phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:414d772a-d411-4d33-97f5-1ad03b51bc71 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:89ffc041-0495-410d-a3ac-7b277748afd7 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:f355d6b0-4045-4f2a-9f03-7cc425603b1d phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:8397879f-c1b8-452f-b0c4-0e96366e977b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:0175f9f2-79cc-4bff-8efc-973f0278b0e2 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e4724091-16f7-4c84-94fe-d5726cc0ff32 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:312c93b2-2d12-48b6-9178-7e34a8643bc4 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:7f606f18-a6ed-4f0f-8912-efe8f36d31f1 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:1d9a3a68-f45b-4d00-a5a4-d5cd201d3bc0 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:1f802440-6148-403d-a95c-cb787ec99a6d phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:3685da1d-ddc2-47a4-9394-8e5a904027e0 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:84630df1-f98d-4e63-b952-6edc1fca43df phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:6051667e-1c4e-42aa-8d47-5c6463074c17 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7b076a06-9502-4e12-972b-c40a45ef80d3 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:34a61e14-0adb-4558-8c8c-106979859a74 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6adcce39-b73d-45a6-a7d0-d82590d2b878 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f0d672ed-67ad-442a-9d32-584a4b1356df phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c871dd6d-c226-4e0d-8c45-4812e84c3c7b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0dbd1491-3a6d-4d57-aaf9-79c4fa98fc16 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d8a7252a-baff-4380-be67-1fa15f1725c5 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:56d8efde-f2b5-49a5-8ea8-6602bdf74b1a phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:931d05b2-7ff1-49cb-9bcf-f1379d7a6099 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:82347771-d87a-4bfd-833e-505e07359fb3 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:677c4b80-6481-4736-b20e-6391b43d328f phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ca81828f-2833-43ab-9d3e-bf51b7f7c9b4 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:43befb9d-cac5-4444-bc25-84a7ac28527b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:416e8207-b398-46c1-8dbe-ee53f31ee243 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2ef0db29-00b2-4539-b041-51147eba1eb2 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b92f303e-38eb-424a-9ff1-d4011f2608e7 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7a172279-48c1-4bbb-8b3b-17cb1c1fcef8 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d2fef6fa-9576-4dce-83e3-065361f66ecd phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d7676d22-08ff-48ef-ae20-3c41e5dbf2c8 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:57e7241e-0cbe-4966-ac0e-c1c209859e71 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bef28cfd-be32-4a10-adc6-18e1b68503fd phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5c504c5a-0526-4726-9c8d-fe6ab59db8d8 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ad83a163-0c54-4e3d-b92a-ce6de2dce971 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:07eeafa3-7d0d-4ddc-8eb1-ce0b954048c0 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ebe4dd77-61ef-48e2-a7b7-48a4fbad62bd phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:daf4b086-b4c6-490d-8414-ab1a0a9a678e phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:16fb9fde-7cb8-4b39-9ea8-e1ec46462d2b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b3f06e82-c087-47d2-ad6a-02687418960a phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0a6a527f-c432-4c47-9126-9acdf4d1c2de phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d9730c44-4ce5-4ade-ba88-167ecf526d8e phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2cdb43bc-6c7d-4f33-9f26-affc62cbbae1 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a03d6f73-a3ed-4567-acf2-a867a1cf6a7f phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:de6103df-bb7f-4273-8553-c9b0d623d9a6 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9291919f-73bb-444f-a506-952a17998b5d phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ab96b8a6-3237-49f5-a56c-6055f79aac3f phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ce0d6a50-e88e-45cf-8338-bccb611ba7b3 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cd3e159e-70ab-44ff-b4b7-d80690a36100 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:de868627-0706-41fe-885f-969cbc695d02 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:78ecefce-41e7-4747-bcb3-068ca603abc3 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0c2bb3af-958f-4d15-a73b-443877bed731 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3dcf5b9f-ef64-440f-97db-a093a4ecaa5f phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e26c1f9e-bbad-4210-b9cb-d921513d96aa phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a2dc97ba-1279-445e-99bc-17a315828b3a phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ea3139ab-eef8-4040-b314-94602c31411a phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:61943c38-3862-4697-ba46-6fb4e85220a5 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e41c9715-4945-4d8d-bb24-82c26d8ab0ad phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:98cca203-e48a-4622-b057-ec8b7ae58db2 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b0267368-f58e-4147-b4c3-7589bda20e5f phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b4dee3c7-1252-4bec-90dd-27db7f7eae7a phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:361fbb4c-70b9-4ffd-9475-42080db88792 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4a2d82e4-3406-41a3-8dcf-7c05a46d4469 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e058f3d1-0497-4974-907e-d2899146eefc phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0469502f-0b38-414b-8b54-1a30aab2c0b8 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f8fd4de6-07aa-462a-86a2-70769c4e724b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2c664f0f-c16f-41e5-9801-4718cc0e1e73 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a0115923-a105-471a-9026-a06792cd5f8b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:468ec763-4131-4108-bd67-dc6cbc9d7895 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ecc89eea-5fdf-4741-967d-97f2721fa4bc phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3e8c6220-5680-447e-871e-b7d0f2619c86 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:edb30c57-1219-406f-af37-8e5b7e820000 phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:516e90ec-5b2c-429a-960d-3832c737ec8b phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:62a13f86-c4ad-4eab-beb5-eff1d9a199c1 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:2935698d-4975-4398-84bc-0679abdbaf38 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:ba5171ec-2978-4d9f-8dbf-cf4dec5365f5 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a6b71731-b094-4650-9364-4bf392955f65 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:659ed028-3412-4e97-8823-72c581eb964b phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:143c5efe-a5a9-479e-97b8-4141a74164a5 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:14731738-7dac-40a1-a307-e81752b83b82 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:ff6b5abb-b7ba-4f54-96ec-5cda7a0eec29 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:9afc3d28-f87e-407c-871a-4956bfbabff9 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:f711a2c9-5e09-4107-b4da-57fa7b7af55d phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:30f15f26-3762-4641-8944-0cf11311b0ea phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:bcd75b57-7219-407d-9361-92dc46138b61 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:03ca0cef-fbce-49e7-ab42-26b7d2c1717b phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:0cf48f35-5b80-4379-b8fc-b44c3009c680 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6546b36e-6483-478d-84ed-f08bee57ae2a phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:08860ff1-5417-492e-9f42-654aede61a71 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9d20604b-6d23-4022-81c8-d9eb77ca0af4 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2a718989-6876-47db-a236-51b4677ee465 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8716c57e-1500-4739-a5bb-d4517d41a1fa phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2cad0fef-906c-4b4a-a630-b97135c7a5c8 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:17574a10-ff62-4dd8-8b93-b821a697cd0b phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d4b2d8ff-87be-4404-90b2-db04d95aac7c phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6187883b-1550-4269-bc66-42bfdb3febab phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:cdecbaa5-2a4f-408d-9978-c9b0a2a003b6 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:abdcb9c3-4b6e-494d-8ed8-a132e1226358 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b5b52248-6078-4b70-ae18-7e78166c6a4a phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:22428642-98e1-4545-8cb7-d42db309aa1a phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:1d928253-7e14-4244-94a2-23e329e1d76e phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ba6acae1-f6c0-4fdd-8e85-bd6b6bee8efc phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a69cce16-05a3-4cda-9ab0-4038ba4a3055 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3f77ef32-a4cd-42da-9342-00aa16923930 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fb7d6998-eef8-44a7-bea5-5c3090416b55 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a687614b-3da0-4708-bded-384e4422dc19 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f5f6a19c-0488-4508-a2f6-465494dc8fcf phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:7fd2e6d7-f87e-4aba-842a-c7cd234638a2 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:6ebac5c9-e2b1-4b88-bcb1-c3edfc22a75d phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:1d94cabe-3b9b-4333-9a94-8003c00c89f7 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:abdc8901-06ea-44ab-9733-9bf8c92fdd8e phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5493d9c4-b58e-4d33-901c-a556c20cafcb phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:92d16180-6b25-42ff-8a41-e4cdac68c60e phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2ab4c74f-c19b-495c-9f18-e2fd5c22395f phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2838fc46-0e32-42ed-b191-87a4571d2f12 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8300f7a8-b0ad-41af-8c14-ac80d8678b01 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f69a8826-e176-4156-9fb2-d53c902f9dca phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2f38d905-3ad6-4772-8962-4f85a41a1a5c phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8909bcae-7819-4803-a608-233e1042cc02 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:87c9969b-c20a-4de0-996b-a987b1f6fd08 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:27826ebb-0577-4dc2-9ba3-68a1985cee5f phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:b02420ed-0974-4453-8f5f-ec844427117c phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:2f6f4995-5dd1-42e8-8567-4fc3aa307d47 phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:42af9a0c-4538-4c9e-a958-93a2e9d48134 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:6a81b3b8-6f9c-405b-8df7-c3dc87274053 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:0bd38d05-9473-4f24-823e-c9c51b51d8df phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36053530 uuid:a56a1c96-dcdd-48c9-9e80-c4facd43f30a phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36053530 uuid:c5f0d0eb-9eb5-4f77-89b8-747a70cac083 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:36053530 uuid:00481bd1-4ca3-442c-9e5c-eeebda9fc085 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:36053530 uuid:1bdda4a9-396f-4de7-945a-db0799cdcae1 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:c1bc0e1f-6ec6-42ae-901c-289664852c85 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:cff2deb3-d212-48c5-9a5a-627ba16760eb phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:4b972710-3799-4b33-b439-3678507ccbc8 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0010747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:2eb60cd1-6a32-49d3-b3b8-0b6144cd9634 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:a92d5e4f-fa98-4d74-8435-08828c96bf4a phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:ad336d84-b5b9-4404-bcc9-797a4d05fe67 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:a20551a4-4272-40ff-b8b4-5e5657c67a7f phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:eef767d3-8ad6-467e-b219-929fcb6c8373 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:a9b1b001-968c-4d0a-9dbe-51e541f9daad phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:31710cb2-7dfa-4825-8bf8-a7f049e314cb phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:12be217f-ef5c-48d0-950b-fbedc66575c6 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:bd276ba2-e75c-4b16-911a-5c6d29828c95 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:243cf905-3fbc-4e69-92a7-92620abde972 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:f80a2ce9-f66f-43a9-aa0b-d5bdab6b832b phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:486d5aa0-809d-42f8-b7a1-2310ca9c1dbf phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36053530 uuid:52b34ae6-6d81-4ba8-af1f-04713529e00b phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c955a34b-cdfe-47e4-b535-32675986b73f phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a4cbf2f2-980e-46c6-8858-008770c46e3a phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c550b592-d5e6-471f-9be5-49f659816160 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d62bea55-5549-4422-a6de-ac8df494a37c phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:22243f16-a68b-4f7f-84b6-d1f52fa48fe8 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:04f36bc9-e400-4db7-84be-fe2ff6712311 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:520dcc4f-5c54-4e19-ae1b-adc04857761a phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b627e1e7-82ed-4885-9dd9-d722fdcdab42 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:14ac8437-5357-4528-9fc3-d69e677c2d34 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:73de71f3-b2b3-48af-a728-1bce3fa28ba0 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:6d407c70-c64e-44ee-85f1-8e5c9ccfbfd7 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:84853a33-6828-4a28-bfb3-7691926ca09d phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c9cd938a-a105-462b-8378-80a1f33edb41 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b9762719-5085-42b8-b074-06da1b260adb phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:799f7b2f-d835-40ec-a842-f8658bc0f6d3 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:0a7ae2b1-3d2a-4d5a-96d4-f7745d0b55c9 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:9aab1f12-436e-4037-aa43-b8fa8fab501e phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:b1971e49-49e4-416b-8de0-c25a4fd825ef phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:979e3d85-1631-4b4e-9699-8be6d3269001 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:06090060-22e8-44e7-925f-db8fab1a8a13 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7a3439e5-7209-4889-b7d5-0a2b9903477d phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:4f8c3a8c-90c3-400e-b50b-e4a6fbcac9f6 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7012b1ae-fea6-4cd5-8fa8-f2560b31aace phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:4ba6b88f-66eb-4aa2-92e8-5e65fd7be866 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:d8e56b08-453e-412c-8aea-3dfef0e6511e phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:dc074e12-e2af-4f84-a618-ccbd7f59b0d9 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:45becb72-1972-49ca-a8d0-a0f9b0bdc25e phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:e562973a-eb48-4d5e-9d6a-859fa6bae34c phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:40b81a9a-6f00-41a3-9636-a6fba721279a phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1ef84b98-3b5e-41a1-b215-44fd65b61045 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:bb701df3-35e9-4aff-ae2e-d155de46de21 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1d01b364-87ec-46fb-8f30-9eee0fa21cca phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a595b222-99b1-44f5-99f7-e2ad1dca7027 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:113ecd3f-1fcb-4d9d-90f5-e2cd222f261c phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:4ec86c9e-fed3-4bab-a9c4-5bdb1a4bce7f phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a02b91a6-6d7a-4feb-8fd9-3962f343f778 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2aa5a552-bee0-481a-9be0-74c8b7780d65 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:1981f65b-9a7c-4d77-bd3e-3a49c1971bd4 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:9b95ec28-f326-43cf-8bd8-c9bdfed3dcde phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:2b4a3cb8-0cc7-4940-b7f9-58fc9f2c5971 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:c8f076fe-31ec-4535-ab9a-8fef01cc8db5 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:27535e74-2386-4968-9dee-a05862aa09a3 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:e3a8d3c7-45ab-4bb1-96d9-ae7f4a5b952f phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:57166f6d-25d3-4154-868e-42a635c8ec6b phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:a971d29e-f092-448f-a522-91510dd3fd4d phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:421959e2-dc67-4020-bee5-31d68ac09f41 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:190e0385-e5a1-4346-a851-c547140060bd phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:88fc2ea7-17b5-4875-838b-4403070a29b4 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:7d9cf7c0-0ddb-4c04-b1ed-3d8eba04d85b phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0007033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:01447659-7500-4a78-a00a-7621d89783aa phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:55f38a0b-73b9-40a9-9794-15d0ab0ab333 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:ee97567e-f4e2-4625-a4ba-6b27fd1e442e phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:5d0feefc-91be-441e-b3ed-9189f8e9891b phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:f4578562-6e5c-4c7d-97d7-47bef09830bb phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:24ad44c2-44bd-47c1-89fb-c4e079fc28ea phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:795d1070-eb41-464a-8148-1ff0229f72ea phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:f2763411-caee-4af4-ba18-8eefb0f04b80 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36053530 uuid:46330ac4-aabe-4987-9ba6-1550e8dcaf52 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36053530 uuid:1821ff6a-9e75-4dbe-b780-fe0d83e89ee8 phenopacket.store:RERE.PMID_36053530_Case_1 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36053530 uuid:d193873f-17ad-46f5-a5f1-9aa4c8961f05 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:4cdd4087-09b5-40a9-b5c3-e4b938fd1204 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:57094ed1-592e-4bdc-8225-fc20c2af1e25 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:5b969fd7-46fd-44bd-9cbf-31bdc2b0ee55 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:bd0ea06c-795a-4d8f-80a2-47ac2be26d6d phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:59d8efb9-bba1-45a6-ab14-ad8d90ca110b phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a67c53f9-e6df-48f5-929c-91faf9f0bd29 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:49aece22-ad87-4851-8155-2d412a5ef0ce phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:9bbadf2f-1e95-42ff-9f36-ee15ff2d5c65 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:1a5e4e29-6fe0-4b58-ae0b-caba2814a371 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:f4cd886f-ada8-4117-9963-7d9abcfa5142 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:a8cf012b-7b6f-49aa-8780-a715c0c4bec5 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:aa1de693-fd7c-4d2c-9e59-f68d740041fa phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:6bfd71e3-1727-4f17-9442-fc6e852f0539 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:9e70a087-0192-4b99-934e-987095817bce phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:fe4910dc-3ea2-453a-85fa-3fa82057a797 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29330883 uuid:83275919-dafb-48bb-8927-05f2300d0234 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a376ff3f-2192-4ed0-aa73-1eabd10efbc5 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:23dbb7a0-a938-4d90-a36d-cbd631fe8125 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fb3e1dc9-6079-4e43-b1a2-e2da2457ba11 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:5e7995d0-2522-4924-8245-78aa94f79e83 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f49a0990-145c-4d46-abc8-0138d20fa79b phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:82084a4d-8d28-44ab-97a4-79ae04b28618 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:044e785c-d897-4f11-a943-abb18b294788 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ce5db1a5-0136-49ee-83f8-966d4484383a phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:cffba890-abdc-457b-885d-857f0a3108e0 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:8e8748fa-f7ee-4257-99f6-725a0e91a2be phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:d379d1e2-3a60-4a80-84b7-6b36203d6203 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:32682b67-7a37-4acc-8945-58a30b6aa685 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:04f58de9-cb18-4ca3-8573-d9d4cb041174 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ecbdddcb-f5fb-4673-ac6d-8fe1d79279ee phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:3619b55c-27ad-40a7-a213-3a8885fd07be phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e578da57-6306-415f-89f3-99e2372284a9 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:9c7177be-d1b6-4d19-8dc5-ee1e5e09f48e phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:c785786c-a3cd-4c33-afa2-c5395cbc9986 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2d4d8041-4b74-4137-8500-920aa9cd137e phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e6f88e00-8059-4b1e-9a7b-b40bdf26ed47 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:ddde8771-b426-4c7b-8528-176e75781414 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:dd4b8d5b-d26d-448d-8c01-0d6c0636c50e phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:2f48dc15-e4a4-4990-aeca-62b3689974c3 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:db7567e6-5d57-4b70-b5bf-08f67028c808 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:a861b383-a994-4420-be36-583b8bf9a94a phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:01045f96-6bc5-4f3b-9a8e-b79a608cdf79 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:282a509c-81c7-42b5-b6b2-98df86398315 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:28409344-86e8-4af8-8925-eab90c6ab27a phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:dc266eae-b39e-4d96-9a24-9608c9ec82da phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:e1e7c075-3720-4bfb-8fcb-fcc642102fb3 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:fd42c338-c558-421c-9725-a9774bd9f83b phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:be4f1864-0c6a-4e39-937f-85bf4032bfc0 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29330883 uuid:f02fc002-8e7e-41ce-857b-b5e0e574b8ec phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:4b280b3a-fc64-4201-806c-f3704ef5d4f9 phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29330883 uuid:044bb5a9-d624-473a-9037-f0ee8c2a0f71 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:91577427-189e-4b09-98df-19853071d916 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d141427f-dc36-4bbe-9266-808418c39f13 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:333da6e5-364d-4841-baad-7b7a304e3129 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:dcc081b8-ea36-4790-9200-934c52bf3c54 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:7aa06af6-1024-4fa9-8585-96b9428e32f4 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:40d0e68a-34de-41f9-9006-922e2e059647 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:cddc4788-b1c7-4bec-b2fc-6a75f69bfc0c phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:e6be5ffc-6eb3-4cb5-9b2b-df66de656264 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:96bbdda3-2287-40cb-9980-aaf78bb327e2 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:c7a2cfd7-6866-4f86-b792-9e8442d58440 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:b476ed78-9f81-4e30-bec2-36d49151a7bf phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0ce7a38d-f446-44c3-9694-244e0eab55c3 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:04872570-265b-4fc5-baea-0d34fdd1b5c4 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e3c347b7-0e99-4326-b517-fae902900845 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:49e5e4c9-2218-48a8-8903-d2dcfbeee273 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:27e44265-e226-4b44-9237-682c404c51bf phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:05a5b294-2056-48be-80f8-e004ec7218ac phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f6ad99f3-53dc-4151-a866-c44af6da4c4a phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ff3b3226-9ec4-4442-b9d9-960bd85e434c phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:faa35a27-8eb8-4250-ac64-040fe5139bfd phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0ba31ec4-8f81-4bf6-aafa-9467f385cc04 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:eec3a584-a164-45d8-9284-54c007f44297 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3b05df43-1cfb-4453-8a70-c6810e960c29 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:85c1f49f-14c5-4c8d-aaf0-811de3ac1fee phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9758844e-a583-40fb-90c4-c8447f44af2f phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8da23426-a434-4894-891a-4cae01a1df6f phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7858a36d-6317-4c91-a0e7-b27f24337982 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:63958467-3b11-43af-b003-d996fae4b826 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a23b573e-e4da-41be-82c7-eb6067ff1695 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f3f53754-35ab-4f3f-9454-544a0afef828 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2ae3b865-e37b-43cf-b21c-d93b8c87e243 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:bbeed372-2369-4519-98b4-abb7a990f053 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0ed079d9-9d03-4d4d-aa7b-13ddd2a03a69 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:22da79ab-324b-4ce0-9d4a-4e175301b386 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6dbd9646-718c-4a3b-bcfa-2a3c81e07b0b phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c2b01910-f7fa-477e-bf67-799ff1d29870 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c97f8b79-b4ba-4ff5-ad86-d1fd7e2fca33 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0236e609-efa2-4d97-9fa5-7d4ab1613c09 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:427d12a1-9047-4b85-ac1a-6cba8fe9ef1a phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:961ccca3-f7d0-4fea-8bf7-9c0e54ef1f16 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:311286bc-101a-42e9-9471-ae924824682d phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1a8110df-6785-4ec1-9bd2-7d59c53fa8e7 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:12c34699-d8a1-40d0-965f-e4b703f5750c phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9bf99198-faf4-40a1-b826-615c5f7c0dff phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:934fd080-c9de-4e09-b94c-6ad3c0364774 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3bbbcd50-63c5-465c-849b-fa5a0b5bc158 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e54816d4-bff3-44a6-9c14-bab9bef3aba6 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:59e6a883-3ec7-439a-886d-9d7aee442554 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:438bd397-a8a5-4885-b859-2d300bc55041 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:0b987a65-e391-4108-90c8-19c191a6f643 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4d96fbd0-f933-4735-9107-0b2b27de3ff0 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b858c735-40c2-4a79-9c34-1a50b652322c phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:760411c7-2d1c-4a3b-ac55-63f48db9967c phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:42cc2ee1-b94a-4dd3-bbc8-f73129b26a4f phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e00293ff-b43d-4edb-9743-56550b09aa27 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:323a6baf-f578-4039-9c9d-a0e90e82258f phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3157bd52-91d6-4f7f-aeea-b3f626dac367 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:33063a87-07aa-4c88-8f3e-a845b837d2be phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f986a4c0-d764-448f-be59-4911091d94c0 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d9e8c93f-28d3-4ef2-91ef-724827c7c2a7 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:326dc125-a5f5-4b25-bc42-4c9b62702b95 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a3fa8fb3-c0b7-4192-a6c6-1f69611b4179 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:728793ea-62ac-4fb2-b2c1-8fcbca6f0487 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:be776acd-c2dd-4413-b155-911fdbfeb22d phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1c926d84-be91-4b76-ae1e-3b0feb2571cf phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dfee1a0d-4167-48d0-be90-606a15797851 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f62106e8-b687-48ec-90e2-118e6e0c4a3e phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:30d53734-ff74-4b08-b4cc-3b015185c399 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9050aeb4-62be-4524-b45c-cc3f10d56f17 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:57c85311-3850-41fb-8130-af98ede61cf6 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:599c3f8d-29d9-4a2f-afa5-df567ceb5557 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d3c5d970-4a95-4df1-bc1f-453636ebfca9 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d4d74067-c54a-4c3a-9fdc-2fc0df566449 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7c4e2c03-82cf-48b6-be99-cb02b96a071c phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:91ceef38-c22a-4891-8765-28e0f17b2ee7 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b3774af2-7cc2-45d9-a9f6-b6bae811558a phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ab727250-f77f-48d5-9640-622a54e1f7b3 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d08e8a5e-1bed-4dda-b6e6-911011d51502 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:9393e91d-7e45-409a-9bc2-96db6aa8016a phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:93beaafd-48a4-4eee-98c6-9f1d309ca463 phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:e3ef665f-0ac3-4e95-8842-10c1516acb25 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:cf4ca1dd-9073-45ff-a0cb-29fd86a45e6d phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:75898107-ad1e-461a-95f1-0713953ffee8 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:5e05aab3-8c3c-4fd4-831b-ea8a60b34c23 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:213cc458-0b5a-49a5-94b6-b607795da88a phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:f2e50612-b522-4360-b4c3-56cb3fd2f80e phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:67f210f9-6d6d-4d00-88a5-660e57704d62 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:4e8cafbb-2305-4625-b729-aeffd784aa66 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:92609d8d-4186-46e2-8a3b-42452f45b87c phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:ee2c0cb8-aab4-4ca2-b9fc-45768aefd8f4 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:d81320a6-f5fc-47d3-a91f-0b99f2d20b07 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:f96ae43c-bb16-4664-9091-ff0e750d1fb1 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27087320 uuid:50a17ada-7860-4eff-8221-27f36f867112 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b40074bb-e258-4b9d-a72a-41339fc1b0f9 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6ac5caaa-69bb-4694-a306-acbf961919c7 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b74be10c-cafb-40fe-b0db-d8d9b578175d phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8f572856-348c-48a6-83e7-c0f4bf40b367 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:971ad314-7286-4571-828e-ea16bcc68378 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:68dd459e-08d3-4ec3-963e-50d1311a5c7e phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f18cce25-5493-4432-8ccf-06fe3539d7a4 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:ba40eab6-6296-4ead-b019-f84d80a41774 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:83d57f38-6e9f-495f-a7d0-c174d3d2e73b phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2e519bb9-86fc-4d6e-aafe-247f690cdf32 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:80024f68-5fbf-4d2d-a3e4-f9bfc27498d8 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5aac1f0e-d733-45be-9479-0b0ddb3d34fc phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c1e61f5f-2e74-4dd6-a8d7-1d87f8800205 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:93f44750-9d6f-43da-afec-c8675aa74418 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:18be1ce2-4f9f-4294-b6af-7b2204f49bc8 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4ad5f0dc-0db5-4d62-8163-404daa19d7bc phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:508ca422-c22d-43a0-bccd-5dcad9fcc69b phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:25fa7191-9e8d-4f49-b9b4-b89b4e382d96 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0011240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:5a1a1b01-a351-4383-87fb-47a9459f7ff3 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0008589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2505a7e1-0ee4-44c4-9ea3-eea780617481 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d06a6b74-a378-47ae-81f2-0269c7c21ce5 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1082482e-3d2e-4931-bcd4-db88d7ce5ad1 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:38f4e0b9-702b-4d7e-8021-96da8951d82e phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0009908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1dead07c-e7f7-4eab-ba8a-7f45fb2b4fcf phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:114bd42e-1ae0-43ec-a371-3d712cea6c3f phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b6a8f609-0d7b-40df-bd90-ed5be75cf458 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:c102224b-6da1-410e-9e59-b753351f946e phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:48db5e66-73dd-4714-a947-a58da2901efb phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:80d51fd6-b4dd-47ef-a81d-4b15bdc20b2a phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:be0d7cbe-9864-4422-9386-2da3e3eab134 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:4cb1d5e8-3df2-4469-963d-dade02db608d phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6ce584ff-e884-4a99-80ff-e1670c8a0570 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8854cce0-02a3-4f95-9f7c-4d697a091806 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:425b0abb-ae3b-4ed3-8d4e-f2b39840c823 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:310d7624-29b4-4aa3-90c7-e350bbfd428f phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d3685368-0f54-4115-a5e5-81e8b2e0e3c0 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cdb4d27d-5e3b-4b3d-9bfa-a1c4dfd5d08d phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:91757971-eded-4301-be03-c6e847de65c8 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:cac815da-cede-4f1c-9ddf-57c4b71c05e3 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a10b9eec-e5d4-40d4-a8af-7d37bfa70d26 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3222b79c-4e18-4ee6-aa42-7022901297f6 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0030303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:daf89538-bed2-4870-aae5-6e5a472f19ef phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6b2fe69e-de8b-4fdf-9b73-5c9437671368 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:3aaa1d6a-3d08-4bf6-b7de-a8845d484bc9 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:d362235b-f43b-457c-992a-38194b831f85 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a7ae618d-f6df-49f7-aaed-63d607f05fd8 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1c41688c-f32b-4fec-8d19-acc6a0fc87b1 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:88290d7d-e39f-4b4e-9e31-dcb1a3289464 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:58d4fd4a-d392-4047-aa81-704b935e7f2f phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:f3792dcc-9a22-4e32-a98c-8c52ce83234d phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:7eb7c1d8-a14e-4e7e-bf45-2a680cd2e4af phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:8e04c947-84cf-4df7-9a13-d283cc67c703 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:fe393580-b52b-473f-b38b-3d194a068673 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:14fbbdb9-ce7d-4297-aced-34ccfb700da8 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e005aad2-93fa-4ac5-8fa1-96c1c36e074e phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:dd1f0832-1afc-48e5-b9ee-4cfbd84cf6e4 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:1872b6a3-d8d8-428b-9203-7944f30a9c9f phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0001734 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:6d5b25bb-34ca-46e6-bf73-2b8e0215d1a2 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0012168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:340b04df-8e0e-42cd-9f5b-ddabc9f6e20a phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:2d936bd4-cade-403a-93f0-93bc6ebfc2df phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:e97cfc80-346f-405e-ba2d-46f24d28cd23 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:a562cdbc-9f3d-4eb7-8ae7-36164f572a86 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27087320 uuid:b2ed5179-a07a-4111-b5cf-60b66fbfa7c7 phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_disease OMIM:616975 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:40e5cf32-6831-45c1-9d4f-1253134b47ad phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:has_gene HGNC:9965 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27087320 uuid:0e699fee-f891-475a-a3c1-2f1a05e58268 phenopacket.store:RET.PMID_24331334_father biolink:has_phenotype HP:0025388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24331334 uuid:b01e2897-6b5c-4bcb-86c3-f32ccced2d54 phenopacket.store:RET.PMID_24331334_father biolink:has_phenotype HP:0002865 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24331334 uuid:2788c2c1-5345-4520-8331-201fbb75a23d phenopacket.store:RET.PMID_24331334_father biolink:has_phenotype HP:0003528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24331334 uuid:523f33ec-bfb0-47d1-afa3-373e48d851e2 phenopacket.store:RET.PMID_24331334_father biolink:has_phenotype HP:0002666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24331334 uuid:7904e6ba-f915-4f14-8a5c-d171e308aa2b phenopacket.store:RET.PMID_24331334_father biolink:has_phenotype HP:0100735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24331334 uuid:3d63efe9-362a-4c21-b1a0-1a321aaa38b4 phenopacket.store:RET.PMID_24331334_father biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24331334 uuid:69708362-682f-40e3-8966-3aad361210ee phenopacket.store:RET.PMID_24331334_father biolink:has_disease OMIM:171400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24331334 uuid:40cb60fc-6052-4ce6-85bb-7d3a7f58fc2d phenopacket.store:RET.PMID_24331334_father biolink:has_gene HGNC:9967 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24331334 uuid:33a528b4-ce81-46a4-914a-5f84fa80ee5a phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_phenotype HP:0025388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:24331334 uuid:3f8ab5f8-b716-42b3-aa40-8454c1617cd1 phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_phenotype HP:0003528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:24331334 uuid:7aebd9a8-b0c4-4ec1-8055-5e1a363313dd phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_phenotype HP:0002666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:24331334 uuid:0605b0ac-4ff7-4064-9129-37de90dc4615 phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_phenotype HP:0100735 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:24331334 uuid:0f10ce6d-e722-4749-bd2b-f1856d938d5f phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24331334 uuid:0157928f-89c3-4aa9-a0a1-bcc336a498b9 phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_disease OMIM:171400 biolink:CaseToDiseaseAssociation manual_agent observation P19Y infores:phenopacket-store PMID:24331334 uuid:83ad8281-cd3f-45b1-8d64-3d524b28fc37 phenopacket.store:RET.PMID_24331334_DM_patient biolink:has_gene HGNC:9967 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24331334 uuid:f7ff00f8-b460-4b76-b0bb-4b1d6416d861 phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:9bbffd32-93b8-4c42-8b5c-7a46d766bb05 phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:eaa586b1-e57b-411a-be97-e2a6ce080823 phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:f938c606-4ad4-47de-8a2f-50699fb8dacb phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0002936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:4bde0183-ee4b-467f-ac66-088de363becb phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0006801 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:9558ceb1-1463-4e46-9da9-0006bfa5b3dd phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:56e4bab1-4356-41ae-b046-25aea0f02e06 phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0006121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:278f6b19-093d-4d24-902d-c7d3a6ad8269 phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0001870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:f389ad7a-a2f8-44f8-a8e6-9731f0d9b7df phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:ad750eab-7378-4068-ac7a-60cd2b0f4925 phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_disease OMIM:613115 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:91400be3-7885-4829-b78a-706cdc41fa8a phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:has_gene HGNC:25964 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:e85fb500-cf96-410f-9703-ad8f57c91f96 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:30643655 uuid:2f7a99c5-ea86-487c-9fde-a1a78563a3f6 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0006801 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:ef7cdcec-5ff0-46f0-a25c-7173d6197945 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:64796900-022c-4678-88eb-d6a3d8f4211b phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:f7e4576c-7c33-46e9-965a-b0545ad19644 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0006121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:e5cd6967-3955-4d8e-a3fe-3e32efd0ab1c phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0002936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30643655 uuid:2cf769fd-25ab-46bf-b727-1c5efbd16e98 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30643655 uuid:903145dd-8a1f-4027-8def-c7a563e08009 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30643655 uuid:7d552eeb-ce12-488f-ab6e-fae74d85d213 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_disease OMIM:613115 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:30643655 uuid:b258d9bc-41d3-4051-a954-069a0004cc89 phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:has_gene HGNC:25964 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:21c64be6-6175-4e88-b258-e771a70edbf8 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:12255a06-4a91-4fca-8b24-04a6adc75711 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:22c26adf-d5f4-4ba9-bdd3-d25bb7d1fae0 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:e4c7ea12-8269-4799-902e-4a341a66096c phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0002936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:20ea60b1-2f47-4d1f-968a-0fa655b4e7a4 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0006801 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:b0202252-83d6-40c7-b9d6-4b8d61dcd8be phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:5ae78b9e-369e-4873-8f27-ad4febc08f21 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0006121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:c6776536-d6b1-4c9f-9b3d-6d1dd51644f8 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0001870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:7f8d1c9b-6b73-4181-98f5-82a3de46517f phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:5b523490-8f65-4303-86db-3526f3099813 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_disease OMIM:613115 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:7aff325b-2db0-452d-8516-f8d7d012ea00 phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:has_gene HGNC:25964 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:67f8053b-d97a-4b70-bbdf-6ae48c822d71 phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0012407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:09fdc0a5-57ea-45a1-bc64-bf4ce30bf05b phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:3f14fff5-5576-4704-b07c-7214e350d0f4 phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:c64d80b3-a7dd-4cf4-9fea-76354d1efb93 phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0002936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:6a8ccb9f-e544-4b20-a87c-bf8b5444d0bb phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0006801 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:65384120-1ad7-40b9-bef7-9b3d8f443f0d phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:f11aec3b-2549-4e9a-afbf-a6cb6606a320 phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0006121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:b2e05572-4e12-493b-bac5-cfd567029428 phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0001870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30643655 uuid:fff8bd9f-9c51-4c22-bbf4-e37b2ccc0477 phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30643655 uuid:7b1fc821-64f0-4351-9ef3-f0357d33a7ad phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_disease OMIM:613115 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:7ba8e672-fd5f-4d2e-a941-2bc8687e65ec phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:has_gene HGNC:25964 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30643655 uuid:5c43dd05-3a45-4b23-ae93-ed5efe9c7c38 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:8cee57b9-44a1-45e7-b07f-56fa78b6a15b phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:43d5b8a2-fb71-456f-969a-582df8de6aa7 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:76babefb-ec6f-4f92-a23b-3d82490016d4 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:16bc320b-22d7-415f-99ee-86e1897f0265 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:a4ba664f-e012-46e9-80cc-14fb1e9fd200 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:f4455b0d-4ca5-46ae-9a23-36afed1de31f phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:818a07d3-66a3-4011-b355-310e26dfc426 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:13344500-49ed-4a7d-aa52-453ad16eb4a2 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:0c90d18c-410a-45cd-8329-913e3c83b68d phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:e624ad66-2d5e-4d5f-a261-95745b09fd6a phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:954250d8-7217-429c-8421-40b890e3c7fb phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:5e73d900-a94c-4e0c-af92-5ef4e3ff418c phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30170160 uuid:bbb141a2-7018-4615-aa27-4c095aee5327 phenopacket.store:RFX5.PMID_30170160_P7 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30170160 uuid:399e0b4f-5789-40bb-8fad-858337bc3e01 phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y3M infores:phenopacket-store PMID:38441205 uuid:e842153e-8b30-4f33-aae1-29077c1c8108 phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:4af95ba1-0e7f-45d1-9744-2047e9094341 phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0031390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:f6bc0f49-000e-4d1c-b645-90ad77c51b3b phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:a6642dc4-dd2c-49be-821b-ba8d7fcd4e8b phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0003095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:5c9892fa-37ff-43e9-8087-6c99b4b69a8a phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:e91c5d78-e404-449a-9acc-3cfef23fefc7 phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:457d7947-5c11-46ba-9160-e67ae66f5253 phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:9b6c24aa-e1d1-4f46-ba08-6410fa49901f phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:38441205 uuid:62a6add2-3981-4f96-831d-5d011e9c0f28 phenopacket.store:RFX5.PMID_38441205_P1 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441205 uuid:5a4edf71-7846-484d-809a-5c6213119b5d phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:ca0d6e18-e077-4384-bf51-2decf5567127 phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0003095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:f0ee3d96-b97f-45b7-8931-f52f2f840c27 phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:e61e0045-87f8-49fc-bdae-675d081b475a phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:7fafb178-4dcb-4fb8-8235-8847acc629ec phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:df263f76-1623-4be7-993f-3d81c31e4b3a phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:36f6a786-5fc6-4896-a39e-476c38d1e315 phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0031390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:e9785c16-ec07-4642-bb2c-f68ebb2f334f phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:8b07789d-ee54-45bb-8835-6579d4477523 phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:38441205 uuid:7621c025-db06-47ea-8401-229e5d980d34 phenopacket.store:RFX5.PMID_38441205_P8 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441205 uuid:53a39cfb-82e5-41a2-be00-0ff248f0a645 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:aee6ecee-8c8f-4754-9c93-642ba4d05d5a phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:6f277e13-882a-41e1-a572-68bd5f242947 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:4f302a4a-bca7-482f-8320-4a53a2ae9b6e phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:08189b11-286e-410b-9aa3-d26f828b45cc phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:6afaea39-2f24-4ed8-b551-c79f01bd9c97 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:ac6338ef-d74b-4e77-ad31-bb8eb447ba2e phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:898c43d6-0cd6-42d9-b4fc-ed8a70c44586 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0031390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:7c11946e-8c96-4359-8832-c9355f61fe11 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:5d18e5f0-459a-413e-b47e-b5d281d53cea phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:8d250a4c-396b-4d7a-8def-34739fc9aaf7 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:a593bad1-3cf1-4f0c-bedb-6b1f0c3b2e3c phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:f7512e04-881c-42f5-baae-440055368078 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:275555f1-8268-440e-ba44-cdbecee84f0e phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30170160 uuid:86e72c97-27f4-45d7-a410-dec57ab33746 phenopacket.store:RFX5.PMID_30170160_P5 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30170160 uuid:c7630413-c1d6-436b-97d1-00d4b02d2160 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:73361b5c-0a37-4d51-b461-bbef266fb43c phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:e19f9b86-551f-4dc7-a84b-b2d6dbf6a5bb phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:0cbbfd43-9186-48b7-9176-7344684bc6d5 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:7391d58e-1f8e-412c-8f1b-ce32135f8ade phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0031390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:1fbc4fb4-ce16-48c3-bcc5-d552074bc5cd phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0002840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:d5917aea-50f8-440f-8f31-99b680d73276 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:4897d259-b7fb-45b0-b5db-ade8ffdcb287 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:2c34f8e3-5659-4032-8652-da7f2817fe27 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:c06afec0-5c22-4cdc-aff1-68bdde160258 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:bdb836b6-3160-4604-9796-b45b3d8e72d1 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:baad9123-579c-4836-9111-dbc15d927fe5 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:d2a9e6d8-ae93-420e-b3b8-38e1abf377d3 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:5c2076e0-6288-44ba-aef2-5628e1cd0377 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:37584719 uuid:66c4a7cb-e35b-4dd5-8e50-7fe17504f2b7 phenopacket.store:RFX5.PMID_37584719_P18 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:e1519b51-6b45-4a67-b95d-8022a180334d phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:82c17f12-8533-4114-9958-3875efab5b16 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:a46fa0a2-a365-4f42-bc9c-b0a62d5e806c phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0031390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38441205 uuid:bf8cb56f-54be-44a5-a36b-eb3932067956 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:d5d926fb-a568-4cb1-951a-6ab367d4b7d1 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0003095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:0226bab3-405d-4745-807d-7d7016448e67 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:ece03b76-7c94-4388-876d-888f3da0ba29 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:02a2a926-4694-47e1-b0f1-796975cfba69 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38441205 uuid:70b53517-d6c3-4af6-b477-e5fab96fbaa4 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:38441205 uuid:7f23a870-9e57-4875-b097-03634b6d83a6 phenopacket.store:RFX5.PMID_38441205_P4 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38441205 uuid:924a6592-02a2-40f7-b045-b4e7b19e0287 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:9329d834-a6af-43ad-b0a9-6ed286edaa5e phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0002840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:c98a7e44-576d-4030-a0c4-c9f0d2ccba91 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:c42cec20-c8a4-45c1-b325-fcb5138db86e phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0100658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:fcfbc42e-8a07-4eb5-93b8-930b476234c8 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:aab68bb8-5803-433b-85f7-345c960651e3 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:355c465d-3cd8-40dc-8c2e-2fee1dea39be phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b0ab128b-0ad6-4c2e-b7f4-fe3552f64eba phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:4f7c14aa-0eed-4f44-8b72-ff021476a280 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:5c1705bb-570e-4ecb-8aac-06e270aae151 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0031390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:662cb70a-a03f-49ac-ad30-452a288cfe3f phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:8e882b65-08c1-4936-8e7c-f5b3b969186a phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:39961b3b-1986-4d2c-b7a4-84cd20028cc3 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:0f706205-ffff-45c0-9b7f-035ba08d6f84 phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9e7e8d46-c707-4956-ad7b-5ed6f8177d1f phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:37584719 uuid:66bf980b-06ac-4eac-b31d-8f9950c2e0dc phenopacket.store:RFX5.PMID_37584719_P17 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:c0477b47-0ba1-4416-880c-ff153818fd3d phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:b129042f-1180-4cf8-b2e6-95a87533fb96 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:4d2b6208-c462-4a8e-ac96-8263c8e32837 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:928fb43d-0790-497a-a1ba-e3b8f674bac4 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:1aebd2b4-40e3-4055-b79b-9a93a4debafe phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30170160 uuid:7fe2e0ab-db53-407c-8a5d-cb0ccf8e90a1 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0009098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:a916d33c-6f03-43b7-aea3-06bb871c371c phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0010976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:5c2dc429-6ade-46d8-9128-4da4dc1da4f0 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:07bd7489-8134-4855-938c-39302fd218e9 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:e315939d-9937-4b61-83b2-c188658444cd phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0020087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:43295821-0522-4689-9328-99e9902eb831 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0020086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:581fc3d8-74d7-421b-8eb9-99df17cc1f10 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30170160 uuid:6800400c-9b68-4eb6-a029-e95441da0da0 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_disease OMIM:620816 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:30170160 uuid:ee6c57ed-4701-4a1c-91f9-c095929ddbe6 phenopacket.store:RFX5.PMID_30170160_P6 biolink:has_gene HGNC:9986 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30170160 uuid:1172a169-f947-456e-86fc-9defe1717472 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:ebc11ddd-b27d-4303-831e-13114a668f2a phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:af9fcbb8-7fe4-4555-8fa3-fb6aaefd6f45 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e10039bd-b85d-43eb-ba9a-48ef95e943be phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:908fa54a-3422-4596-9afd-5639bf1469a4 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:482fd87c-a8e2-4fdb-9b0d-a22555ed471c phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9bb1001f-bcd5-4f13-828e-39000237a92b phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e1c28296-df85-40ab-bb65-542d0aa0ca6e phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:3897dbfa-06fa-4f9f-b64b-36fd18f87789 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:06cba517-ebe1-4bea-ba0f-268f2092a8c6 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:485f2736-3553-48f2-8d37-eb07add07bf3 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:37584719 uuid:bedad420-7fdf-4574-b270-d5b445333856 phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:1faac2f7-18d6-483b-a5c1-3dc128a95932 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:c9387b4f-51f9-413a-91ca-de22eea50ea3 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f689f702-ae55-42df-ad8e-2b0fbaf0389e phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:bc7a278a-68a9-49fc-b748-8b9b838dec1f phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:ab7917a2-bb44-4e07-a7aa-ec0d5af77610 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:c276d5e6-7081-4713-b226-cca915593e63 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:89cc64d9-4a86-4c8f-848d-f6be9064177f phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:00a3556a-b00a-463e-b0b6-812ad1cadf0b phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:8bd83a9a-3993-4b75-aa59-e3fb3da7a78f phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9b0a9c54-01f5-4095-9b67-1d9155e72ad7 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:f577fc71-0a3b-4ce0-9b09-b34e455bc953 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:5830ae77-4f84-41bc-8173-a8e765d9aadd phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P3Y8M infores:phenopacket-store PMID:37584719 uuid:45ed167f-1ebd-435d-b6bf-54aae448c384 phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:215b356a-f47a-4b45-b442-9a23dce3fe5c phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:475fb12f-7f50-45c2-bb7f-801807f2a5cf phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:2d54fd7b-a746-4e78-b860-018e37ba917b phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:8ebdc773-2cb0-4921-9625-42ccda0dc77d phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:d8349281-5687-434d-8a35-8e8ef56a8578 phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:c5a6d08c-5f77-47c2-bf0d-d0183bf40997 phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:812e209f-7788-4ad1-b949-5ce9a1f73352 phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:4c6797fd-1588-4648-92a4-afdcf396702a phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:08cf1944-d481-41df-b00d-222be19d8584 phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:2e34c531-45fd-448a-8e99-771d4b16113f phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:a10dfb4a-69d4-439a-b7e8-3a8e64e2b1e0 phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:37584719 uuid:db9c4c66-011d-45b3-9321-12723f7dc4b9 phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:9ac6d66e-8147-497a-a231-407decd1c23b phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:9a08074b-c448-4514-9ba3-024fd1260092 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:bafe1a52-6a7c-4d89-87cf-4be439ae5cd3 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:3f120fc2-49f8-4339-85eb-fbc02fccf172 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:dcca6f9b-c28e-4d20-b88d-dd5364493bc3 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:8e7f9c29-46dd-40eb-b0f2-c331d07f34ea phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e4e1ee94-6536-49f1-8278-3468fde074f0 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:b8f21b04-11a0-44e3-9835-864fde0440ad phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:eb6479f8-853d-476b-b1b7-9073b1a05733 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:6543f493-3496-4b38-a5e9-9f7f8b1fa4e2 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:1b846b31-cd84-4b1a-a4ca-1d7cd8cd7867 phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37584719 uuid:eafd529d-4743-4a84-ae2c-5fe20b65909f phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:9ed02279-d9ee-4cc8-9fa9-ae4733fb529b phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:506ff9d3-c50d-46d0-ae3a-f6447c9bbd42 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:6abe1872-79b6-4caf-9d96-dae60b822cad phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:e842feb2-f571-4ed0-beba-5d0fac81be78 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:eb64fe90-2d63-43ce-a549-c7db3d20a9d9 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:6d133bd9-86d0-45a2-af7f-93e4b1afc26a phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:7736bab4-edab-44f6-b4ac-2fe8738de732 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:65ff2ab3-0fbf-4a95-b575-8631ca8e861b phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:f6ef2531-68f0-4e42-9a61-ef4bee0f4d40 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:207fadf1-ae3d-4169-9888-80f1228807f0 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:284b6cee-e485-4d7d-b847-e2a55f9edd9c phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e042870b-0bc9-4d46-a6a9-4672a8251cd4 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:db80df02-20e5-4fca-9b11-dfce70518fdc phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:37584719 uuid:02dbc418-b418-4351-91bf-363565b31a35 phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:cfe6b34d-b957-4d1e-afbe-5679cb75690b phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:737753cb-f6ee-43a4-8a74-19da7f42e830 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:a8b9a56e-1d35-403d-9cfb-1198037aa2e9 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:059689fd-d5f2-42e7-bcc6-3b409ab495e8 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f7abc923-9fd3-43aa-b0c2-5cd65fe000c3 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:38dd6d31-a185-43d7-b4ea-801f81c8f84b phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:edfdd9c4-ddc0-458c-8ee2-3d7e7b87289c phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:c9b9063d-937f-403f-8e78-ad27daf758bd phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:692a0829-6df4-4b07-b517-fc68c08420c8 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:b61f442d-4fdc-4fa8-981c-37b62d92d331 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:216d5371-a49a-41f2-b113-1e17981ce671 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:2998f9b0-7b38-4e36-ac5b-bbec0bc0e00c phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:37584719 uuid:c482c066-b57f-4757-8534-8dd999d8fed8 phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:4107769e-1309-4067-b867-cbe295d9f3ca phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f1bcc3ae-87b4-44e5-8412-20adb177339c phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b3293962-1f9c-471c-9924-36f649467930 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:70c74ff5-059d-4c2c-9294-034a5b6d3c65 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:8423d7c1-a4ed-446a-b7a7-487f28cbb038 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9f88b08d-1564-4bf0-81bc-6b058b2d0467 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:25f4ff7f-3d9a-4e2c-933a-e443826cce2a phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e8154cb0-399d-4ac4-a957-23f1c8e92638 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:b59049bc-f04c-4d34-af77-d898c5bb7f12 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:37e72abb-dca5-485e-9fce-c082d162a196 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:cd445d2e-35dd-4386-b01e-ccecc646e046 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P1Y10M infores:phenopacket-store PMID:37584719 uuid:205a7d8e-3442-4375-a975-98b89dd022b3 phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:5f0f0ae3-6c81-4ea4-a99c-165de8bf4d3a phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:11313409 uuid:698c6ff9-1593-4035-9fc7-6cf32b2684b0 phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:11313409 uuid:e4a74380-0a5b-4fe8-9dd2-2254a400ec11 phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_phenotype HP:0031402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:11313409 uuid:2b092e64-0904-483a-aeab-99ebca2f9619 phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:11313409 uuid:6470a1eb-c53a-4cc4-8fd8-bfc3ff859fb7 phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:11313409 uuid:4aaae5a9-7c70-432f-a495-cfb3e65d5825 phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_phenotype HP:0002728 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:11313409 uuid:6e72fc0a-0b22-4737-8d60-2c998e7e3309 phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:11313409 uuid:233fd412-dba2-4d40-b33e-028be2a7854d phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11313409 uuid:8ae148bc-1e79-4e98-898b-c4048e89b1b7 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:99b2ae67-979c-48d3-bc92-f36f168ae059 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:bf99e8e0-1db5-4718-a9a5-83992de01922 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:c09cec52-1c16-493c-900a-e5e9801efd7b phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:7394e86c-7637-454c-9cf9-af6e9b1cab8b phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:44e8ef15-83ba-4eb8-addc-6f7b1cb6a216 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:02b04a41-216c-464c-9890-63601ffedd79 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:691e5142-d447-4da5-bd23-927a56a4e5ff phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:174f5735-761f-4b7e-bcf8-2b3b6f9962ca phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:80fbc3ac-990b-4343-82b1-e6727978f448 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:3a2eb22d-e26d-487a-b65c-0b6d0ee6182a phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:37584719 uuid:7724983f-c3bb-493e-8525-a0213b273bb2 phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:ffd99435-65b4-4f69-b2a7-26bdb83ecdf0 phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:288d903c-546a-452a-8851-9fc68f431413 phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:a405969a-c131-4a4e-8733-26dc04454536 phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:5963046f-bb22-4459-90e9-d524cfae915a phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:84d3a4a0-63ff-4648-9b5c-18fbbcd03721 phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:2f00c2df-1f86-48d7-8ebb-31d7a501832a phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:babdb4ed-244f-4dac-b6ea-2b131b62368f phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e47f175a-216b-4010-bd23-7d180386576b phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:86da641e-65f2-47ae-8e90-747ba16f095e phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:14731b75-f83a-48e9-9682-0fa42276e04b phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:31d0271e-e259-4f8e-8f1c-9e16cabba255 phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37584719 uuid:7b0d938e-f83c-434b-aa2f-177ca31a5b78 phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:db5311cd-3a6d-4653-80c6-a53db61ea3c0 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:902d8cdf-1281-403e-a472-52b45899aa6f phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f4eddc5a-1ced-4b86-adac-d666fb9d6770 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:68e59495-c92e-43bd-910b-9d24443c2236 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:870ffa40-b841-423d-bd45-309cbc606f8d phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:e629eb22-21ad-42b7-9e0c-e82c22b9c2e5 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:990ffa17-67e4-4da7-b818-7ca5ff89c63c phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:baffa7c2-7c7f-47c5-8606-0f7eabcf4872 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:d3b70fc0-a951-4362-a893-1c72a5b32e89 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:12dc889f-9dc3-4054-a795-e85784fc48e7 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:ec55ac93-e772-4315-b04d-385fc895b22a phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:37584719 uuid:a32006b4-36f0-48a8-a11a-483b57439239 phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:512e761d-b5c2-4284-8ae5-7e4ee0a7b788 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:4f624f58-f2e9-4496-b47f-8d469d0f4575 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:6fd64839-b7bd-4abe-831b-47c7c5d60b56 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:7a466e48-dcb8-4c50-96a5-fb218a6aef68 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:3de11fd9-461b-40b6-b952-3f71891ad1d9 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9515d245-bb74-4813-a78a-fa8cebe92250 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:896c7c7a-a9f5-4389-9d17-0a3cc45413ab phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:07300168-f225-48aa-8d5c-696ae1adb58d phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:38acf333-7969-4049-8f3f-9bfee89605aa phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:b83d80ef-7d19-484c-b934-925e4cad4793 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:eaeba5c7-9f7c-4b90-9575-128a8ebe46a5 phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:37584719 uuid:de5c9b6c-5394-4cef-a952-135ea498188c phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:184b27c9-6722-4f20-97b1-be3f4551bfbd phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:256b0b15-82bc-4c05-a82a-9b0a877171b6 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b2a36a73-8442-4a5d-bad3-559eb913cf1e phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b9a035c9-fbcf-4992-87c6-54cb4197ed37 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:57db1387-e22f-4451-a0f2-758444c274c6 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b85bfab9-6394-41ad-9a7b-0b6fd1b02954 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:8095b2d8-8288-4453-8d53-9bcf11eb8ecd phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:43a619e1-d530-4819-be97-7a7fabc0eaa0 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:25e8fc7c-df3d-4240-bf9b-216bdeab3aff phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:98e08491-6256-4255-930f-b29f70ebdbf8 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:d949daa3-102f-405a-a470-e2a19a57621f phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:92644324-88bb-47eb-b6b8-28657e7cfd4a phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37584719 uuid:d2b7418c-e782-4eb6-8062-a1e917f436d3 phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:dcdd227f-c031-47aa-8a03-3e6c3c444c6a phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:4402b439-da00-421d-ab72-5c54c7356237 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:55786cde-24c1-440c-9f4b-b9cddf3e08f9 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:5d527762-db31-4449-b9b8-38d5faca1c2b phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f29ced8c-5ad5-4388-bafc-deba64fbeb4d phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:920670a8-5db3-4f06-8155-646ac79a9047 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9a056d6c-8625-465d-9901-2cabea4d8153 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:af2f9951-18bb-479a-a8ae-8cd9b95b7987 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:cf257d88-44fd-4921-8bd9-65b9beeb02e9 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:5f35ed2b-ba3f-424b-b1e7-2a5d15fdad74 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:edce6e16-eac6-4504-9e3a-6f2069f89c8d phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:37584719 uuid:a4cae0dc-a142-4b8b-96e8-7b9d164e19f1 phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:cbc1cf9a-823e-461f-ab1b-aa01ba787303 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:aad0809d-2fd0-4659-b5b3-f7c08fa08c35 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:2d1a4d69-5a60-4822-bda5-eb336d8d24b3 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:731404a9-a424-4fd4-8d14-b444435c93f5 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:9838adf3-df86-4940-bcde-1a55dc04ca17 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:c81d04a9-16f1-4b69-a19a-ef5c3cc0f3a8 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:5cc1cd4b-c26a-461b-88c0-916ac97082cb phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:2e392deb-20aa-465b-aebb-afd3f27999cd phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:bcfa1adf-e6ec-43ff-851e-41c7698af133 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:b9833542-b437-444e-b009-2bd427038b45 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:a7c9acf5-90e2-48b9-8f7d-b8deecca40e1 phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37584719 uuid:0950db8e-c836-4737-9452-164c418c36cb phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:fff9c485-caf3-4024-9183-d9f22fc9c1dd phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:6d2c3f55-8d94-4f85-a943-baf1b0ca443c phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:d3e4b714-af1d-44b4-9eb3-20695c82154e phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:4e30e927-97c5-44a9-968a-c1a067e41233 phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b764fde1-a22e-4c01-9135-c6c80300ed70 phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:30713fe8-a4d8-490d-ae23-2559fdd9d088 phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:81d5c314-c65d-417d-91cb-94c63d708437 phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:cf22208d-c5ba-4734-8b6e-7d36030646db phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:db14c3fd-bb69-4ec3-b638-ff0c523daaec phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:c1e034c6-fe16-487a-87a5-613206eaa89d phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:60d24a9a-ba7c-4d40-bb15-4c47ebd374c6 phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:37584719 uuid:821bbc77-c817-4577-b9fc-5045ecab196f phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:b717c16a-7bfd-4746-ad77-93445be7a2d2 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:54b474da-0907-466e-9851-86770dd9aec1 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:ad5e1712-2e95-4b74-89aa-e3a456169b44 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:9956b4b7-dd2e-4f14-a885-95023e713708 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0033431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:e4a4b56f-95cf-450e-b9c5-55efe1391ef0 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:1cb8efda-b754-4e80-a423-e9889536af6b phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:489d1ea0-ea50-4fde-8311-cd1209889582 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0030991 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:633531fb-0de1-4f15-be06-07b64070b901 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:14849453-646a-4452-afbc-bef055fa19fd phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:9f34f708-78a0-49ce-827b-f1917a7de692 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:35a662c2-2c05-4221-b57f-7a0d01555e55 phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_disease OMIM:620815 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37584719 uuid:01234639-b4a6-4e73-b6d8-576422a82fbc phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:has_gene HGNC:9987 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:b77636b4-d3e4-4221-b51f-abaeab5b0ff6 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f32ef547-4193-4ccf-a981-1f011acf47e4 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:69d55319-f681-453a-bfa8-c7a0956b0179 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:75471928-1a02-42a9-9230-b107c9009fda phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:2bf25f03-9495-49ef-81ef-5f8a030ad0d2 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:015a130e-7c28-4153-afc1-586251901d37 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:ab935a43-03ce-4187-b5ba-d4bc559cd6c5 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:d45c604b-bdf9-4adc-88f6-44381231672b phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:3de96048-1d9c-40bb-82cd-dd4f93f3692b phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:a50d6662-efe4-4982-af25-ec062d6c2792 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f726ee10-4e35-4f79-a2c1-3c92f36b0ca4 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:1df0d892-47d4-48dd-b20e-28101abc3e9d phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:0c14415c-221e-4517-b0f8-9e6fc8c12fba phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:eaee4753-1b67-415a-a292-6c2b91d1205e phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:96bf09df-da2b-4140-8f2a-07220fde890f phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:db4ea2db-aee2-463a-8bcf-5c4009f9574a phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_disease OMIM:620817 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:37584719 uuid:f638b76c-67f7-4350-80e5-63875b3fcd70 phenopacket.store:RFXAP.PMID_37584719_P16 biolink:has_gene HGNC:9988 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:ef23c5d1-076d-4c26-828a-aa17130bd538 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:1ce2c384-8bff-4d94-b70e-510806579559 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:53a94f25-79f0-4f72-987c-e0b4935c27f7 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:625a605b-081a-44aa-b350-15dd7ff5d16f phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:2bf508de-899a-456d-99ea-b44abc3c5753 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:6a093b50-2787-4dfa-bd6a-06b5d3eb034b phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:ced661fc-4add-40ff-931c-bfdd76508dea phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:ce4956fd-501e-4bec-a389-77b017b52ef2 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:3fd75498-51ca-4542-8eef-061cf378d7e7 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:cd6b0657-a7c0-417f-a205-1ef73ef1f964 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f4b3e837-d643-4a83-adc4-e9403d85d111 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:efdcf434-6d17-44db-bde9-92bfb855dcbf phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:4b57638a-2c48-449b-85c9-c918c01f092a phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:a4698124-9d34-4668-819c-985807c6a789 phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:63d9d64b-a24c-467e-bb43-d458fa0d706c phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:085600ac-5b51-427a-9331-9e4fededcf6a phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_disease OMIM:620817 biolink:CaseToDiseaseAssociation manual_agent observation P7D infores:phenopacket-store PMID:37584719 uuid:4f751fe9-c344-4d30-8b6e-a99aa1b965df phenopacket.store:RFXAP.PMID_37584719_P14 biolink:has_gene HGNC:9988 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:168cb8c8-c8bc-4283-b416-38a8fab49fcf phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0005401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:22390233 uuid:beaf9e3b-7354-40a6-af24-433df451028e phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:14aed8a7-2269-443c-8cab-68f5cbd93266 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:08f1453a-f76f-40c6-972d-384e4fee5e3e phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:c0d927e8-2bbe-45d8-871d-839b4c3681cc phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:ca112bbe-8f01-4e42-abd2-f1e952c58482 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:1afd766b-5196-4ee0-9cba-045d576fc4c1 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0003347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:6c1dda3c-be76-4a9d-9e49-0704f82d03c5 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22390233 uuid:73c42250-3fc0-4235-a939-72ef7bea09c6 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22390233 uuid:8e255a7c-738c-43bc-bffd-6f8dcae05305 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_disease OMIM:620817 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:22390233 uuid:d11bdcb5-35dc-4c10-b7ff-9750cce76be6 phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:has_gene HGNC:9988 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22390233 uuid:736b9e36-bd73-4191-8ae2-23aca829e9a1 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0033222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b3722e5c-0454-4287-9886-3dd6a83873ab phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:b09a1f18-493d-4aef-a6fa-564580bbe78b phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0004385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f926bc9d-5af2-4e19-971a-04c2c4b62d91 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:42a4fbc0-2a87-431c-9b99-4f4ef5d44ef8 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:44cba33c-ae66-47c9-8e1e-9ec63919e718 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:8180cde4-6900-4e39-9b18-c2bac03e89ee phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:f35af5dc-0744-4221-9ec3-1d80b97818a0 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37584719 uuid:d237521b-9237-4d98-aec5-1b87365e13f5 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:dc1cfb5a-bc18-43fe-8644-81a06fb30e2a phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:05c8411e-50d1-4cce-b8e0-530d2f4ecabb phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:ec13bebf-fd75-4477-8634-53948a85c671 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:31ee44fe-49c0-4908-a20a-fc557cc11d1c phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:91783dc3-1df1-4987-b171-98257d77354e phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:30c3e40e-d805-4e15-b2be-415bd86f472d phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:85215b30-0a3d-472d-ad8e-aa241a903366 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37584719 uuid:1fec1689-7358-48ad-a2c9-61a8b8377c52 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_disease OMIM:620817 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:37584719 uuid:e249711f-8986-4e24-a060-7fff65f1c823 phenopacket.store:RFXAP.PMID_37584719_P15 biolink:has_gene HGNC:9988 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37584719 uuid:b14f7a37-3414-4b89-bbf3-bf242f9859cf phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:255e60a0-0c44-4ec8-b23b-e64bac8df50b phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:117e57ac-793e-45ba-afcc-84d543a2df72 phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:9218a5cf-11e8-4a75-9270-aa2112289834 phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:73484768-f6f3-48ca-a0c7-cbfe8a184262 phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19818506 uuid:ab4f3711-3ab2-48d1-b63d-4d8dffad80b6 phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_disease OMIM:608415 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:c5467d39-1c00-4353-95a1-0d83c9a608be phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:has_gene HGNC:10004 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:0d89469b-d546-4d1b-bf9c-e7b0433c1507 phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:fe4ee752-2d45-442e-9998-ce22048dd6bb phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:f6958a9f-aeec-45de-8db4-3d942a51e3b5 phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:a2277c82-ff15-45b8-b996-e8b03090dabf phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:74a97b3c-3ecd-4312-aa8b-ec2c9bdfa5b8 phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14702087 uuid:07f95e48-8e3a-48d4-930c-eb5987e85778 phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_disease OMIM:608415 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:6efc68ad-6dc2-4e5a-8542-31845a7e4c50 phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:has_gene HGNC:10004 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:04f0d8d6-187c-4138-a9db-56b5b8c6846d phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:707aef7d-29f5-4652-b097-8e0fccfa2c6d phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:e91f9353-c13b-4323-8066-44b366fc3558 phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:42535c5f-5ca2-4554-abb2-b03e6b425277 phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:064fc6ae-da3b-44c5-862e-1a18c54b2cdb phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14702087 uuid:f57bc7e4-9b2d-4191-91ac-598fb4f592bc phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_disease OMIM:608415 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:40b8eb37-2c6a-4cab-98a0-443c8dec586f phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:has_gene HGNC:10004 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:b7faf92e-567e-49e3-b0e7-3475195bc5ff phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:2c7db8be-781f-4fdb-93e1-7a13a960cdbc phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:b824a618-4907-4d51-bc69-cc44c4759b45 phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:de51be8c-1ca9-42dc-a9a7-4224c3f1dd49 phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:6b9b9deb-45b9-4bc6-88eb-252d049f4020 phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:70e06471-4124-4176-b844-2b267f6282a3 phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_disease OMIM:608415 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:04ba9273-7a0c-428e-9099-34db4ccac530 phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:has_gene HGNC:10004 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:e677a722-fb45-4160-8a8f-5cf561be0540 phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:f1421fa1-80d5-4192-afd9-57775325ee89 phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:3a31a44a-e857-4d95-9fe6-04532d5f4696 phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:6fcd12e8-8375-46ce-8b28-d5d37f7c2c0f phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:e5f956a7-ee9b-403c-a486-1c853537cb5c phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14702087 uuid:2416ed19-8880-4377-a56d-57772162811d phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_disease OMIM:608415 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:9a0f6408-191b-46d2-bb50-2c26c3f8525d phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:has_gene HGNC:10004 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:a9f21039-5dc7-4e2f-83e9-cf453792bbe1 phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:e784e5cb-0eb3-43e1-a9ef-c533381c0686 phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:2c9ee6c7-0c13-4db3-8fcf-b14d78105cb1 phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:9492d6b2-55b1-4e0b-afc2-4342ab7da152 phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:d50eba10-af71-4a5c-9938-e46fcc726279 phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19818506 uuid:3d200e84-8c6d-4c60-968a-0597c745e15a phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_disease OMIM:620344 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:b80df455-a253-40b0-9829-50b423e1541c phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:has_gene HGNC:30304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:0db2f1d0-8af2-47c9-80ec-e0812fc52eff phenopacket.store:RGS9BP.PMID_17698770_19_year_old_Chinese_man biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17698770 uuid:6b174861-7555-4dda-b2bb-8c6403db0b75 phenopacket.store:RGS9BP.PMID_17698770_19_year_old_Chinese_man biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17698770 uuid:ee68c9ea-a2a1-447a-9102-bc03c0597aee phenopacket.store:RGS9BP.PMID_17698770_19_year_old_Chinese_man biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17698770 uuid:371621cd-3828-4d3a-95fe-e86ede1c7770 phenopacket.store:RGS9BP.PMID_17698770_19_year_old_Chinese_man biolink:has_disease OMIM:620344 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17698770 uuid:6933f125-8487-49cd-8158-f644907ca72a phenopacket.store:RGS9BP.PMID_17698770_19_year_old_Chinese_man biolink:has_gene HGNC:30304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17698770 uuid:2bbc0ae1-5b0c-4c59-b338-a3e7135d004a phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:92e1bebd-806b-4b2b-a707-a9c6d08310c0 phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:fc158520-7f0f-4fba-8c80-9e2a7eca5cae phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:0354f641-4c34-4076-8480-bf55fc6815d2 phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:5617fcb1-a10a-4e4b-b963-22d86c06818e phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19818506 uuid:86eeda86-b6ec-4d16-a359-9f7110b3b91c phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_disease OMIM:620344 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:1625f226-0f2b-4eef-9b62-b9c6cbd9b0c6 phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:has_gene HGNC:30304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:6efe7a9b-194e-4499-8aab-73966d6c59ba phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:85d5c79b-2e3b-40b6-80ba-9f2992b04195 phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:0da6aa0f-404d-48d9-b3a2-c9945b428308 phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:ef187a7f-08b9-4705-bd25-8439cc0af913 phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14702087 uuid:62940deb-1794-425a-9a45-3af1436560cd phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14702087 uuid:9cc7eca2-0cb0-46bb-9728-2e8cafee6a53 phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_disease OMIM:620344 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:19978edd-ef68-41d7-988a-799fabd14963 phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:has_gene HGNC:30304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14702087 uuid:7b15af06-cee5-4b36-92e8-f8a23b2fc22b phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_phenotype HP:0030511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:f5ea77bf-7c0b-4549-abbd-37980ea9c96c phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_phenotype HP:0030512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:ef8421a4-48dc-4ef6-bfb8-2436c7af3141 phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:07d5c3ba-c2b0-475a-ba15-dfd051ba2423 phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19818506 uuid:0db93468-21a9-4240-98c2-1250cd40716b phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19818506 uuid:416dde5c-1b4a-4109-881d-442c6d373cc0 phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_disease OMIM:620344 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:158cf6c4-aa83-45f4-ba6b-9a62c02b150a phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:has_gene HGNC:30304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19818506 uuid:745afa6e-01d1-485e-be3f-0c3410b87bdc phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:1fc14c19-e7b2-462a-8a38-e4675a37ae12 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:2437cacf-e1ae-4736-a9a9-890662982916 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0002718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:422206d6-69cc-441c-9944-27bb724627e7 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:7dca5ff7-fce5-404a-ac29-5f59a535b3e1 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:4887e1a5-48a7-468b-98df-caaf4518101a phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:705ca071-63cb-4a88-afa7-86f750eb05f0 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0031402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:ad6ece23-f9cb-4504-9238-a2e0c5607a8b phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0410301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:00fbd129-8b2c-42d8-a7d0-63a4aa453d50 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:8a342368-b585-4c41-ae0d-17ea48335052 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:2492ffe9-7fc4-40ca-9949-34ec48f1432d phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0031190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:73ae2d44-59b5-46c4-899d-4b7e774bbd82 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0032183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30936877 uuid:d32da394-f297-49ba-977e-ef82d59599d3 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0002593 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:c158a66e-c2c0-446c-aa90-dff8fb8496f4 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:5f6be749-eb41-4880-a952-071db6c063ff phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:fd3d2390-c7df-4c01-84ce-70ef59891057 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:4d91d971-c4b6-49a8-9274-7f07b5466968 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:28cfada7-2aa4-42d5-b065-f1b07c5807d8 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0033351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:38687f8f-a264-4730-9879-482ace9b2af0 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0032435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:d5faf664-d91c-488b-8045-a342b80508d6 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:4bca497b-41ea-470d-aee1-5c65f1cc61eb phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:4f95cf6c-6f3d-41a6-9cf1-1b81ccc2c314 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:6e3438c4-dd10-4649-b712-71f7f61679ce phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30936877 uuid:f02b444d-6bf1-4afc-ba84-0b81f2c4e526 phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_disease OMIM:620632 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:30936877 uuid:60211b7d-ccf2-4631-b495-9e8731b60ddf phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:has_gene HGNC:16031 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30936877 uuid:69bdc316-c5a7-48f2-8d44-c2af34ec5d9c phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:73f3b106-ef29-4149-b536-129390453199 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0032435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:279917fb-0cd4-4651-a4e2-285ee1e1cadf phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0002593 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:26008899 uuid:8b63248d-ee9f-4f3e-a04a-451c9516df16 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26008899 uuid:4252ccfd-56b7-4676-a24c-66817211cca6 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0031402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26008899 uuid:10d859e9-3ccd-4864-a128-bbece5fb815b phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26008899 uuid:dbf9d69e-344a-456b-80b9-7a5b705029de phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0410305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26008899 uuid:9b339749-d4e7-4fc3-81f8-b1f70db2e83e phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:26008899 uuid:5186d37a-2ef7-4bbd-bc60-e5401c5e79a7 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:26008899 uuid:40e9032f-84dd-4b8c-b5a5-dcc8583dd168 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:26008899 uuid:e7e58e5f-f42b-4b18-a8c8-10e1b35c1eae phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:26008899 uuid:c3b4d2d7-b2dc-40ce-a436-2c0284809fbb phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:3bb451a5-99c0-4692-a53c-2b026e0a319d phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:37818cba-4b0d-469f-8f46-7b6c2fa13c25 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0410301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:df0c5fe5-c386-4f17-86a4-7774fd7fd0a1 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:b31283c5-a8a8-4087-9a50-f8776cde4ab9 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:64aed217-de8b-4534-b976-cb591fe71692 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0020180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:23aaa385-68fd-4c67-99a6-cc34c1365114 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0011227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:d9e32778-c8bb-4395-ad06-0d42498ab667 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0003565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:a740d169-802c-4af4-8501-e9ce31bc457f phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0033351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:d9c66124-f2b4-40b1-ab76-134e5da87632 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0002254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:3bafc141-bcc8-440c-9096-6c199de1e53c phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:fad55427-55d5-4652-9a27-5b91ea3919b4 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0032183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26008899 uuid:f1b16c98-76ac-4869-8cfa-fee885917b46 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26008899 uuid:3a04283c-3809-4991-8904-9e6569367a1c phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26008899 uuid:ed33e13c-24fe-4355-a4cb-8053bba0bd88 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26008899 uuid:26a1730a-e581-4cfe-ab34-b5df3776b4db phenopacket.store:RNF31.PMID_26008899_patient biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26008899 uuid:a4b2c808-09c1-4f0f-81c3-f1bce79e6a9b phenopacket.store:RNF31.PMID_26008899_patient biolink:has_disease OMIM:620632 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26008899 uuid:a695468a-d566-4670-a335-43e995705df4 phenopacket.store:RNF31.PMID_26008899_patient biolink:has_gene HGNC:16031 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26008899 uuid:f58d5d80-6f53-4cf2-87bb-7a8dd75a5c5d phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:38991538 uuid:508378f3-52bc-4d2d-807e-8380e65214a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:80dcfe84-1e67-4fb7-8c05-a4d688c1c597 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ad49deee-81a3-4510-a81b-3367dade7f9a phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e1e5abdc-4346-4cd5-b852-af143a9388e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b2fc55bb-9403-41d1-9c75-4b33fc4a4680 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7b1c44c7-a083-499e-b96a-09a86cb9a59c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bd03d539-887a-4cc3-93af-1bf0fe5c4ea0 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2bd96ea9-9229-4506-93b9-3ae249c6e17b phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a6c29e7b-14de-4325-8608-e1315dd361cf phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:27aff2c0-3506-4ad4-b8d0-aefdf16520f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6f616c25-f18b-4be4-84af-5abb56d9a93e phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2861f198-2d27-4596-a198-cd802891a91b phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:384a6daa-9e23-4153-bd48-176568129f02 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:55855a1f-4013-453e-bf4e-16da181af01d phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4e5a6d4f-b276-403a-bc38-31333d5b510c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b03b9c9f-b2ed-4661-888f-ee169f694477 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:20555947-d661-4d3c-8aa5-17a4c6aa5ab2 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:78b74632-460a-4472-a276-253027d9b211 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6f10b73b-39ed-4ce9-bb46-cd4055ae000a phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1a777abf-dbb5-4c10-8065-b816e8c785f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8ebe7c56-db93-4d2b-bc37-d7f2baa45ce2 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:85ac7f7d-28a2-48ae-a0fa-3abb1a37d557 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:71d6edfa-f469-4575-a9ab-66ecf221ac03 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d1cfde48-3841-48bd-8437-936243ff2e25 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3eb24553-2e4f-4d45-a188-efd84b5e947f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:face7d5e-a597-47f9-9f9e-b6cca5069003 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0007165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bb63d25a-3f69-4929-bc1a-2783ff5d4d17 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:62461530-d838-409f-8dc4-f6a6fd2fb95c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3f2612d4-a9e4-4146-84d4-24de053ba941 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e93300f0-e814-47c5-bacd-811623de6a1c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:948050ac-3e40-4b5b-9cca-2e542e2e68ab phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3cf7165b-a647-46f1-9438-0fd6da1571e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:02e54d64-b9c4-4447-acc0-e2ddf4023830 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2797e260-c8c7-4f7e-8a97-28b26ca47393 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68386b77-7dfc-4c96-9cb2-054a52e83c87 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f986f79-1c16-427f-b3ff-5a0f8e4bc82c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48b502f3-8e3b-449c-ad57-dcb2cd6a2805 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ff58f69-05ab-43fa-8303-f76a41308470 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0feb4a6f-54f6-4d0a-9420-0ce574cf1e23 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1505038d-b451-4864-9c80-cc8174d11bb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d18911da-b959-42f5-abc7-5c3ca2057f1f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d89744e-e037-47fb-b9e5-71ec6818d6b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:143602e0-54d1-49d7-9649-6c6279881229 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb30820e-84e3-474c-b819-9cd446dc1681 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8df9725b-80f9-4a4a-963d-dfe3dcd5e355 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93104279-4648-421e-ba38-4da94df210e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ff53ebb-f1aa-41c0-b21b-3d5a71ef30bd phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e5cbfda-f357-4d6d-8872-024678daf4bb phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e2a06d1-e4a8-463c-9ff8-53f86e17648e phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95ff0525-348d-4831-9945-6671af8eb5bf phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:346046a0-b0c8-4e9c-ad5f-5a85f44004ed phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c07a95eb-9f22-4713-ad0c-2fbef47731a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ee88736-5571-42fa-9a98-976023fac871 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fe92243-23e9-415e-b657-cc3c27f86bf9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14740159-b86c-4d4a-806d-3cc46acb6fa4 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:414cc5fe-fed6-4f3c-86a8-ccae43e715ce phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb423505-8690-4022-b4c9-48c83fd6dfa9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9aedc130-9aeb-4289-b3ef-fb7ce6c820cc phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b87ca5c4-6502-4faa-9f05-8b6990360ed0 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ce07c9a-cc97-4f34-932b-5b4a3135df94 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8085904a-d4d6-4af3-8b4d-903be30beea5 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0596571-6564-42d8-96ab-90d7b68894bc phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa6150dd-2b6d-4fbc-8367-5402e5f58746 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b27a2a0a-9105-4f54-a5cd-9fe044064c49 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0342019b-0fef-4c83-bfe5-dddac758b128 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:adc162d2-02f3-461e-8083-180b0a9af3ce phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67926945-1dea-4e65-845a-335c5140de5f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:debeb695-3d30-4fbd-babe-9c8d004d1996 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4265912-3d1a-4b66-a8fa-f76d7c731b9f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13cc7117-5e5d-4603-aeb5-8124e3205396 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c2a86df-c219-4bf7-99d8-b6fd6add9bea phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b0d45ca-7b95-4cbe-bb95-ad20275f7cb6 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4965ff28-86de-4a35-b3f2-70a7ebef0d3f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24a080a2-e70f-4973-9c77-5c8daa26e6ab phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0bbfc60-1ee6-46c6-9edd-5adbf33ab9c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f559cb7b-26cb-48f9-bf12-08948f736635 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72dff63a-ecbb-42db-934f-1cff167fdfe9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cbd3349-56a5-463d-b2f5-99e0d062e6f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f676a93f-05b1-4c79-b154-347252aacc48 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c804f544-d442-45df-ae82-50a67376f771 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f17e836-ea72-4add-ae2a-24e15ba8b20c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47820285-9543-4057-a316-b06518e5bd14 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a476d04-0e02-4217-baa0-1084a64f8373 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7b53760-8cf1-44dc-861c-910f8d219a40 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b92a2c12-f797-4ade-8983-0ea896bb1035 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e627044b-5245-49cc-ac92-a1b29e6aff06 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:795058e5-d3ef-4900-b71d-0e843c099e59 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2006af12-094a-4bfb-a6a3-882fd5946327 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec666eaf-665e-4c8a-ba10-33a4b10f459b phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d15d85d5-37f6-4a85-81f5-7013390caeb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e49ba64f-2e02-4c53-8382-aae3c6b33c04 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf9ea0d5-7cf0-4c58-8548-7966f4cd8cc8 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd42446f-8872-437c-be15-59d32481e1d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a13b1e1-211a-48a2-89e7-34e62b5a8973 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b194cdf4-deec-4233-ad5a-06319c7ea3dd phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb8e17f7-e609-4aa3-8ca4-648cdbc88222 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99d69765-bc1b-4b93-9229-d0dbd0fe7a15 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8623024-305a-4eef-8683-a323f81f457e phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6521c3cc-22a2-4cdd-851d-c58d4bca0a41 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6dd31b77-01c2-4dbd-bda8-4aeb504460a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e01c46a4-3ad8-4fa3-8b1f-43350c50b389 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:277afe8f-c605-48c8-903a-58d153b72d99 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf2ce9d9-a9b8-4860-af41-11cc76792051 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f315c9b-4346-4755-ba96-5ff1127d11cd phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9b1fc48-06af-465a-9081-e56e8679b08a phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a129f40e-71d1-4db4-8def-b022840c448f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af281208-5415-4c48-9972-eff6847231d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:654b403f-21aa-4cc0-80de-201df93db001 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:782f1d8b-c7c7-418a-84cf-b02afa0802a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e711178b-1c14-4c42-9fd5-2cf5262724c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f5a6c6b-4496-49be-8529-773dedcba337 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c77a9c35-dcf3-48f5-ac63-6e221f5b8399 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09a6ef8e-22a2-46c7-8ce1-f5d92b19e6d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a633705-77aa-4fac-8aa3-f531920cfcc3 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2caabcb0-cf58-4263-a01a-4797f4a0de93 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3ca28bd-f49d-467f-8b50-0c29ddb8442e phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03843b83-7e91-495c-8eb0-c4ace03b5258 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66649180-41ba-4d69-b7a3-dc6f12b1ca26 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e03efd3-921d-4169-91ff-f636839bbde4 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ab543af-66f2-4118-89d3-da03304a52c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:11519c37-bf24-4148-8a9d-c1a97682db63 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84b1d789-0391-428f-b018-e6607cff311e phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03617bda-4d09-4ff8-aa33-af06fd1b03e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a1a13e4-cb32-4af4-86c0-992fe726a339 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c84922f-2a15-4a0f-a489-9dfbac12a910 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc2240aa-8cfb-4371-9b16-33189f2a76ef phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b282a50e-45c6-4cfb-9f94-cae435a91a18 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4d35d7a-2c09-4016-91bb-ea3c864a945a phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b99f167-06bb-429f-9b08-18645cfcd6d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca445879-e73a-4407-99ca-8463f81a6907 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4480a2d2-df72-4225-8338-4892c21f0df9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:512f1db7-3bf0-4f18-848f-cc8070077264 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95e62d0d-6e3f-4ff1-a698-133acf671b32 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:148b8634-66be-4c13-bd55-fbad051120b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:003fa2f7-5799-4605-92d7-7156c1a69018 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ae32950-c08e-4627-9beb-6d584b775ee9 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d60ae564-3e36-4f23-93bc-93046d604740 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ac8adfb-7868-4748-a647-6a5ea553d570 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3da935d7-d618-4853-b244-0c58e6ae0684 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:935b4222-4783-4bcf-8ad8-6484fda3a0ee phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fccbe06f-056f-45cf-91b2-7b39e5a39b52 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bbb70af1-bbff-4ddb-b97c-0e266762a425 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99976419-2a63-4a21-89b1-71a44134825a phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78373d64-f16b-486e-b4f6-881298fafb13 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:021d2c8e-eb6a-472a-9644-5bc1be394dab phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7dd9ffe-3fa8-4ed5-9820-da05ad234b61 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb8e678b-dba8-4f50-8379-eddfa29d133f phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f016057-3a5f-485a-8ca4-88095c3fb226 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26bbbabb-c622-49c2-8e7f-f685f7bd4ee3 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d4fe35b-a88a-4961-b118-6f6a76c7b676 phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:922edb79-2576-4f2c-baec-728918d6fcad phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24a31c5c-2464-4209-b2c4-382b5c775c2d phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9415abb6-02c3-4c2f-bf7f-7acf200d2e8a phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:6afd8f78-e3f0-4f5c-8e65-2c44694dc88c phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ee78cf26-3a82-45ae-bd0c-d86579295f45 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0968545d-ac90-4a12-a34f-975385596cb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:40a23214-289b-444a-8ef2-c3ca31929bcf phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4c531eb3-aaa0-497d-8e9e-5c5114cec95c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b78e76ba-9ca7-4dd8-9af5-e0e8b2bb418b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2472d6fa-997a-42eb-8307-c03d7c0efa8a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:99d6153d-2da5-49f7-bcf6-afd2f7c498d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9b06bec6-8e10-4051-94c0-f8b0c5dbec06 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e5943f8d-6da1-43df-90fc-5ad2bd1aa0cf phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:34a50be5-43d2-4b6f-be5a-fc537856affc phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cf78dbbc-ce64-4746-8a85-883bf3285abd phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d2af2e84-7216-4c92-8353-e112326f1330 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dd06908a-3c1f-4d08-9b54-6a1007142ee9 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cee1d8d6-362a-4087-b7f6-ff05be6ff1ff phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:94a48a87-94bf-48f4-ae3c-96a120dd76a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:409b9984-4d96-465e-b059-3466059b756f phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:473e90c2-2519-4352-9184-900e67ad0d7b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fb4587ed-c391-4d0b-bc72-639d44d0edb6 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b95d03f5-43c7-4036-a60d-e89a0c73ba81 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2fd25d4a-46c1-445f-8c5b-ba6288e2e54c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:110d901a-277b-4369-813b-b0fed3fe9391 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:46b580e2-7e33-430f-aa66-7f9489510322 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0c445f3b-1f0a-4acd-981b-0d1748e83c67 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0e7874e2-997a-4d50-a0e6-d04833ef52ca phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8de6a72b-85b2-4016-a196-607993bb4280 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:68764ac8-6a75-4855-8d64-882446cf09db phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0483da99-a541-4117-8964-5d48d2b1c265 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:45760f01-0b60-4886-9cf1-3fa084d0877b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3aaaf5f4-2896-4ecc-9ae4-d4dfec2be060 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e3ecf192-657b-449a-a0d2-42cdd1dc9e3c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6ca84810-81ff-4a41-bd37-fc56aff185b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b54b5498-80ed-41d8-9500-2530af7815f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fb6adfa-34fe-429f-96a9-994aa878fc2c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:904c3c42-e58b-4842-a222-9043b4ed5a28 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56e3a035-37e1-4b8c-a6c3-af69adaa45a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c62595a-912b-4ffa-a0e7-23624587520c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:388b90e0-02d8-4486-abc3-62745200f678 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96b7732e-5f8d-4b86-b50e-f24182b56495 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7af18884-575f-4740-a28f-e3e8436f8fe9 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2bf7a04-67e3-4434-9b77-119a23488187 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f057195d-c816-482f-9a3f-82a6764921ac phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47f86b0e-b7ff-4137-9829-4f502de71936 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80309835-dafd-48b6-b36e-8a8e6f16578b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0fcde5f4-5a57-44f7-9215-6e90ee57e7ed phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9e47a2d-826f-4530-bff7-23250a96572c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2250dbce-72dc-4c29-9143-44665d0f3252 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c582db28-7a11-4ede-ba9e-5201600ecf7d phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc7bd443-8ad1-4259-b645-7b94e190fca2 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5321772-bc4e-441c-a940-cd2138078a32 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e2b4a6f-c24d-4515-abe1-4392e9d3c23a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c637f9a6-6c27-4e1a-bf67-9444990f7776 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36986d53-ab01-4f3a-a1fa-cee91575497a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7de9243-fd2d-4f39-979e-9f1d3712d67b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ef3ba08-95b9-46c3-ac64-69477c532655 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef027ffc-b75b-4b12-a638-c6c1ebb66228 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ff4930e-a961-40c1-b075-d848e58b16b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:776612aa-1577-4521-a6bc-f5304133bcdf phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27fd7acc-2297-44c1-8ce9-213665379463 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:012e5a86-58ba-46c6-9de3-88a308e2d9b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f307301-bdf6-468a-95cf-5e813ac7282f phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d611b9a3-e06e-4d57-839e-c6935125a14f phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6adafd8-f882-4cb4-9271-9fb4fc4273ab phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c26083b-d2e2-451e-a8f9-3188920a67d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99bea6da-ac78-4232-b215-57064cdaa8a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a745c1aa-4acb-4ba1-826f-4985b54ae33f phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9b4895a-32f3-4faf-9578-f1de9f4e6d3b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59bd7c05-bda9-44e7-bd6f-dabf62ac75a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32cec811-2f5e-4b20-9362-964577663743 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f60e0e1f-e217-4858-92c6-9b7f2dd2c64e phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18719384-70ec-4e53-9439-f8d83db5ea1d phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dfcbf15-d124-46b7-89e9-6156400f9858 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd112266-74dc-4114-8575-29547a4ac1a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45a189b5-a70e-441a-ae00-f73626231acf phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b55d91f6-fa62-46e2-a5a2-6de548c557b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a431cb86-3009-437b-97f7-b303bad716cb phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1cb914dd-4744-40f9-b1a4-6328f1890ee8 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44112e18-cd31-494e-89ce-c1154c796bd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8a24838-44e4-44c5-8a0b-edaf7dfbe3ac phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b9a9344-d55d-484a-ad26-3cdf383f3207 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3d1cd5c-63a0-4ea3-83fd-24854331485a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d50d052-9405-40b7-b905-47e2fce0db3a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9bbb284-10f8-4482-bd54-e088852ab9d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4fec529-23fe-4f43-960f-08255d0dc3be phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea333148-7f9e-433b-aefb-2d50ceb2c7aa phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9162f764-bc4f-483a-b1c6-0884d6a38aeb phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01693721-4903-4cbe-af4b-a72fdb678b98 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0a35bb5-274c-4319-9d2a-99ba73ca9da2 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89cb58ff-cbde-444b-baf9-96f3b40e030e phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ee6e910-b97a-483c-bc32-b16a509dba32 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f6caaf1-bbb1-444f-8b49-fb610186fe4a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ff06ece-8951-46fd-9ff6-c99d873ea0cd phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1cbb2a3c-3d3b-4224-9314-6c68ce334c82 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1208c637-fcb6-4861-902c-e37e80c2e366 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b79905c-cab2-4f2c-af2d-d5b8ff803c6a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16517087-75e4-492a-a058-621262456342 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67262bd2-edd8-4749-8890-ee6c400352d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e738cf42-da4e-4da0-a7cf-aa0cef992e56 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c7eae9e-ad6e-4253-998d-ac913fc6507d phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36b57403-0d93-4aa6-bb37-b53a7f6a92d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0012fbf6-1d75-4060-bf20-90267b1f8abe phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c13cd45-24ae-4e07-b7a4-b7e3702101bb phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a58e4cdd-0270-40db-abf8-465ef923b25a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ca17cea-948c-4139-8ece-0e7d292170cc phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0bf6e080-1a68-4d83-be76-133c9ea2cbfa phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5f87f12-8935-479a-b06b-9c5edc5e8fd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88fc890c-8a46-4814-aedd-bc95e0059c31 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4eb9b279-4059-4c15-9937-5fe99f0fc3c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aee02e66-a4b3-4a7b-9614-314804c4656b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d780a0cf-ed0b-499d-b84b-d23c20e75615 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8461067-d712-452b-9914-460770088001 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0554f36-09e1-4065-8064-61209836599e phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fb85d4a-7a99-487a-84b3-f039aaa32c03 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4683d82-8449-4332-8d7b-e0238785eb0e phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9815eca0-9e62-46aa-b6b8-5ffb27fe62ba phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7d40753-5643-4235-9860-8b99ea94d5ab phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b01b049-a3e0-481b-9c47-ca0ac7f19a02 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b82e8a79-7eed-4b46-b75b-6d05434d8016 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce9620cb-def2-46e7-b661-950e3ee8877e phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07620305-3006-404c-85ca-49ff8e675760 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b84730e-f778-4433-b4c0-10680397df08 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76556828-9d1c-4ea1-b663-16777c768d8f phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:670e10c2-be95-4ac8-91d3-5f3e8972e7cf phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4cf4c8e-5680-4c65-9cac-7fc48a3181a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59496946-fc90-41b4-9820-500910750cb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5de14f92-0e9e-4cb1-a672-c4451062f95f phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2aaf6c3e-ca0d-43ae-9f76-c00473ac95bb phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:598101a9-82a6-4ec1-88a9-3f90a705f282 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf15c17a-b8fc-40a3-85ad-089d41f10edd phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c89eb683-53c6-40b4-acd3-94e2db3d93ee phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68a7656b-c2eb-4a2a-b2ef-21fe22b275c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b09e254-9d43-4b51-b7dd-b36ca5b112db phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa8b232b-ed65-4f05-8bd2-220815a74767 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8d3f160-91e8-449b-ac30-6f86ef6a7282 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84b64ddc-cdc1-4ae2-bd5b-b6e79d0d257b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b401d37-5c19-4a27-b7c7-3afb06c1fa7a phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68b15317-0d7e-4172-92dc-2f852a9a5b26 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75a21dd6-11e3-4ac6-8df4-0d22e560bb32 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fab4e766-4c5e-4f7a-af51-44f979092892 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98401c3b-25a9-441d-9c14-a53408199dad phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5215be43-d2e2-4585-a6bd-4d2935606b56 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a256be9a-5007-4f35-81da-fba692852d46 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:134eccd1-38f1-4c3f-8b33-a59274c7b9a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf484742-b82c-4f2b-a6c5-c58125cff11c phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38f1f698-5c41-4402-ba94-18d9c283ba70 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e0ba79a-2f0e-4254-9a32-1dc25a2dc8bb phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e04593b7-c3ba-49ef-9db3-c115ba995349 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5defc995-37b9-4977-8faa-88a0556baab4 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abe74321-4f46-49d4-a103-b21f7f33459b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da5a66d1-75e3-4a03-98a5-fbc76aa1098b phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:59a9d90c-a1be-4a78-8839-abb04f72ba36 phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:43254902-3cc5-4e71-8052-ebb801422b8b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a3d1ed5a-9ee7-4fd9-919d-50dc67183728 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8a5ce1ae-596e-418b-84cd-07aa69eea27f phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:74f42573-e07a-4ccd-912e-ba776e732e1a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e001ec88-cd5e-4fad-8105-6d29e2dbb961 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5fb42544-29fc-4b9a-88e6-b0364926e225 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e30f910d-e198-49d9-be74-c7ef2be7da35 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f58d8910-6bbc-46c5-b886-d842d3c74f49 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c5ca25bb-32e2-447f-a2ef-6e8e0c0e14ef phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e8979a6c-c0a0-4f2b-ae4d-83833e07fd8d phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2cd85637-19da-4a6c-8f1d-08c394ed64e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c074f9b7-3592-4c40-a9e6-8d0f1ff1fea9 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6bf669f8-6dad-421d-a07d-a68cbfd7d0dc phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:03e53c89-5dc6-414b-94f7-c933233c5e41 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:40dcbedd-74db-4d59-9f44-e759ee51e116 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0738e752-11d0-4a53-877b-f15caee7b7a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:60a28ec7-66af-4db9-9554-b06386327e5d phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8baeddc0-baf0-42b7-b270-3ce46a22767f phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffa58fdc-d7a1-4622-9efa-b75c37eefa37 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b4c4639-2a49-4a5d-bb7b-d19f7dab6a0b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb608dc2-821b-4ae8-9e57-e06e824c55c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:527b6ed6-615d-4158-ab47-71bca62c441b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffed6113-383d-4491-b690-4652d6ec3980 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20802320-3672-4642-9f36-fe6fa68fbf34 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02d5923a-8dc9-439b-9eb6-870edbdf2d9a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c57ba84c-8ea7-489d-9eb8-af4812e90913 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06d67dfa-b024-4d2a-a3a0-07eca3bfd99c phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52915aca-bf63-45d9-ac10-079ec38f2ce5 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24395148-00d8-40e3-9c32-b5580962bfb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48a3c903-41e9-487b-83e3-cf2dec6a1107 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab766204-1559-494f-b38f-425060f3d61d phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95bdcf74-0d84-41fe-877b-09720e356908 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47bc210c-0e52-4048-baf2-a39bfd16d90a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03e9998a-da77-468b-83aa-eaa628ab4f5f phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45c407dc-5718-486a-be99-b12e9296f2b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:750bde12-9775-4704-98f7-af9e8a858b40 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fadb0128-c5a3-4ae1-86e9-37be63dc378b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0b21705-c58b-469d-b51e-6ff9a35f94b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bca153b6-3e60-42e8-86e0-53cc67230b9f phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddf70b4a-04e7-4290-9427-d9662adeb88c phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab294824-2607-4ae3-b5ce-114877111fdb phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95e6531f-58fd-48cf-812d-8694374b2238 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2ed4b4f-da4d-4c72-8670-aaa84e98ad94 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a48f7f4-0c3f-4bc7-804a-3348d74954ad phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37c56a66-4f7a-46d0-a559-34f37f7bc02e phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9298c0f1-db4c-45ea-bf0b-ea2945f925c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02317fd4-4701-47cd-950f-7d4667b4c1a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62e0ef85-b3e1-4cd9-b9d5-d5847dedae18 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f35b306-f7e7-43ee-8237-2859d064349c phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:91b86235-d102-47ad-afca-5b8ccc38d348 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ad08ab9-7eae-452b-b440-4413e3d85fb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94717c90-7885-423a-a3da-5b9fa04cef0b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1a98772-9089-437c-b636-6e7db127afc4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:157a744a-a299-40e9-9881-939c1d15a3bd phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc46ab79-0ff5-4f36-8769-1b5b97786ef3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:038a3fc7-71f2-42a0-902c-143d5bcef71a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf5fbf0f-599d-40c1-a997-0a01dbc65898 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18091cdb-d7ca-4ab3-8c87-bbc5632a9675 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a76da1a0-fb8b-438c-91a2-112c3458cffd phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ca7b85d-646d-4b14-be18-6f8220a769a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6e3a2ad-6300-40f5-9dde-447a1219814f phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02db0005-a4ef-4691-9b23-c943cea47920 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72b429b9-899c-4611-90d9-fa564c183863 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5678965d-aa7b-4f06-8c1f-beceb1bef34b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bc64894-d2ac-4634-b2e8-381f31207740 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:165f7bbc-bb69-4f27-bb96-60fd5ce138fd phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16976159-7f9e-45d0-a7e8-0e72744470eb phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44754789-de9c-4a8c-b2e4-f3363f20425a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61659150-31a6-45d7-b0f4-e39e18c39567 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78da95f1-fe04-4322-8d46-c8c7b98ad1b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67e3df10-21f3-4845-b158-c5a22c384cd4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c910f685-e7df-4da3-adbb-c1bb9642c675 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2cc6732-180a-426f-b007-a364ad79a6b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:484b4ea8-96d9-4141-870b-e85e4de46f68 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04fec9ee-b316-46d8-aa09-6e6c860bac7e phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f153f08-9737-43e8-8efd-35734afafe11 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96462816-f351-4218-92ab-204abc4d1a49 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a96b3e6-572c-4419-8ba9-c6ea77d56aca phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00657667-c4fd-441d-892e-95f3cb6a1f43 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46199960-4be4-407a-bfc0-7f5f0b40e780 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:439095b2-e4e5-422b-9737-2d84d706dc67 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a1572ff-9139-405c-a315-cbbb94734f39 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d29c1b7c-3fc2-47a0-8c8d-721b6b6f9ef1 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8852b7cc-608b-4d5b-9e15-7a3e312468c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e37b551-8e12-4180-9f17-cd1061e6dc6f phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a088285a-3112-4a83-8213-3c8038826646 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:327ba8b2-7334-47a3-96b2-17c7ead098d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:396cb6b1-086c-4a84-8ac8-1261b6b859a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:024f2128-5ac6-4196-8814-45ed68a02726 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e039aa46-564f-438b-8fb4-77958baa9164 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a19d985-8555-43e0-aa79-39cd077c232b phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:268187c2-7a67-4abe-86ce-a176b95df0af phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd566b45-be70-4604-9afa-cd2163ae0852 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82e7a123-b37a-42bd-ad9a-961b1a241c98 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34392bb6-da33-4119-a859-62f9e942e453 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26674ae3-461a-47cd-bb3e-eb99cce40bb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94649a72-137e-4084-88b9-d23f832cdc59 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad10de62-5f86-4d89-9c23-deeb6eec53d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc6f5f60-7fd6-423c-9aba-d530f1b076da phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c8cdbf1-e9b3-40f2-8652-660527f3a191 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cde8746-487c-4bed-930e-624a58a715f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a69c5b8c-94c6-4868-85bb-254ddc4d35e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fec530d0-d896-46c0-be93-a2bb74852c71 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d32d19f3-8faf-47f3-98e2-630fb143e2f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41ead97a-0d55-4527-8e92-013ba7baef72 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41167d9f-997a-4dfc-b17a-bc7592b235e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:022dfd52-ce14-4d01-9bce-c3672b238cc5 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a1166ae-04a6-456c-896a-f0f540501be7 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f91f4ad7-a792-433d-9a93-fba75b210f44 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66c9522c-6f4c-4c25-a366-3de1679580b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3df79a5a-21ac-489c-9498-84de9843becc phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a5e21f9-999a-40fa-bab8-f072dc8ce195 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28cb3bbe-8bf1-4b39-a0e7-205acc684d26 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71fec196-8789-4405-b291-0df7aafbefd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f516472-b00c-444b-a945-78071f9bc767 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b6cf0af-e017-4b7f-b6fb-e138d04cc706 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46b86ed1-73ff-48c0-8f27-acca39d93e6d phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6435f4fa-fb20-42fd-a4a0-0b2b626ca226 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:211100a1-b5f8-4699-ba47-722230663c92 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3ceba9e-d08c-4fbd-8c55-ce5612d233d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a282a45-c03f-48e4-8e19-d69970c1db00 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a7fe4f7-c5c1-4dae-ad3b-819374aa45bc phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c851e21a-8337-47d5-a6e2-cf6208def060 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2cbd2ff-d75a-4e8b-a154-eddf544826b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45d403dd-8eb9-440a-847b-864f03ea4941 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8301843-3682-42c3-b307-fc34a39006e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1955216d-7ccf-4fba-8d4e-463edc0d7b07 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a2c4938-cf31-4892-8232-6c5694f4d480 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5f6bce0-0d13-4a3c-8d63-5ec570a064d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a93d7958-26ff-470f-9d4a-81f3d1b06b11 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab6636a7-b51b-413f-9c01-05c23bc40265 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee650a42-a964-4d56-86e5-0fc8d2cdd81e phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1449c159-5eec-4ff3-967b-078b9ce23703 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f1f7067-6a2c-45f9-b665-7d3bb65119ea phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57579a99-bf2b-4ba0-bdce-a69515a9f24a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad956712-8539-46e1-921e-28c23dbac40c phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:feda6e72-feb7-4350-ba14-02b2876a95a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16c6c997-0bb5-4745-99a3-81ca6fe036da phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3aa5d237-9ccd-4f21-b86f-40fe8155ec5c phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e69a1885-3bd3-48e9-974f-975c82f8a5e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d78df8ae-e6e5-437c-8ff4-1caaf52a75a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a91bbc6e-6d9d-4bb8-9dd1-31304dc256b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33870161-d019-4253-b40e-0bd61ee962e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95007841-b189-4258-b0e0-9554437aa375 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a330f48b-6503-49c1-a5c9-3b712baca2d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b655941-0902-4517-8d48-e5dc88af7da9 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45027d8c-525a-4655-808f-1533b06c4783 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da5ccc3d-4ade-4028-8ae3-f9ce50ba2e6a phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:7e9d6342-02f7-4125-a0a3-aeff72799369 phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:22b8790c-9765-4c90-ad34-a50e7e4e930d phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4df3279b-2ea7-4990-bf0f-1a62077cfad5 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5f214aa4-8040-4b13-9879-6303bdcd1850 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d33dd2f5-1a13-4a09-8c8a-77a1dba6e3de phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3e0b2a53-11cd-40f0-8792-398611899afa phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:47d2b56d-d100-4dd3-a801-bf7fd7a15271 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:844a7814-8dec-455d-8c78-40331dbcf80f phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8a58411b-98b7-482c-bb9e-eb6ce50fd2dd phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:830d2d12-0e47-4ace-bb96-d7dfc2e4501b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:060b95ef-fe11-4761-826e-dd11bcad4c29 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ca119d7-b92f-46d9-862f-dcb935229173 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:60485c99-466a-40d7-92e1-8806e36e404b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8286ecc-b7c9-418e-a470-a1c2da96e808 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5afe845e-244d-4095-84e7-64f92d8961cd phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fdfab9c-18e9-4c8c-84cb-92b37dff1c65 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b37353f9-35b0-45b3-b077-c08ac0604649 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37bf94c2-5765-4f34-965d-c4e9a2ed7c2e phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a15db55c-9dad-4929-a0d2-a263d9140205 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0c1d1e6-89c9-4717-8263-e5de946e8182 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9d25ae2-589e-444a-8b8a-165fcdea2114 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e7a7aac-fe3b-4340-8b54-9556c51abbd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6a27ed8-bd50-41db-9363-3d90ac7f2f53 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f506047-f6c3-4714-a907-c9d8cb5c52c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a424cad8-cc00-4b30-a455-979a6e09dda3 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:658fcf8a-3c44-4f8a-8a40-2522502854db phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0438d36-cb6a-463b-827c-b9af49bae3f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0007165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6aa8faa6-68be-4120-8a70-6000e0d9aa07 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3ef04e6-5947-4e75-b753-ab482dffb396 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f77bbbf5-7e0b-44cf-9702-96c6d80baa89 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb46923c-8862-43c0-87fe-797c481b789d phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8e6e172-ea8e-43ae-86b3-dfff1dbef7eb phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2ff3631-8abd-4ee9-91a9-a87235814647 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f84fbe1a-06d0-4905-887d-59f5f41ed705 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ace5fd8-2f09-4a11-93db-aff6dc27943d phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa1ebe40-a016-4bde-8245-6ab6e3bba09b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b2ad145-6414-46f2-899e-b89e0f8642a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7628744-3e9d-4a18-9037-534d597b2284 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c0bdbad-7054-4a98-8cae-ef34abcf8ba2 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:530ab32c-4a0f-4115-bd9c-7072a5c459e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83221266-a7ab-4dda-b3ad-07a12afdf8a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c68519ad-e83a-405c-a699-f7763b7bd90f phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79ad79a2-9729-4f0d-ab70-304e04c0aaf5 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57df0f10-b4e1-4ba9-bd04-065e16192b5b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53e8c6cb-1790-4167-a62f-3f4232dde4aa phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6cc4cdb-8b82-4ae1-a786-30fe1f36500f phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78ed51df-85f1-43b5-9402-a2072f1490b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee611c9b-a9c3-4934-82e7-1f09e904ce54 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15dda730-2097-4dbb-a1b2-6004c83b016f phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:949e5351-8829-4bee-83bb-33ee5c25639a phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49776b6b-f51a-4161-ac41-4d1e166494a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45a44fee-2dfa-41a7-887c-edf26342be75 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ceb8a63-05a0-499d-9e09-5839071ddba0 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45495518-03e0-4d38-adf6-ad440c0d411a phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd8750f0-4608-4c03-be71-b03a470bcb9b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bfdb66b-12e1-4f02-8cc6-f4a96bc53c79 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4424884-3557-452a-800a-f8ad61a02b32 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8a7796d-e44f-4a85-ad6a-4300d6f1c12c phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8156be5a-1736-46da-9bf2-991400ac3cc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1848cc30-524f-4851-a126-651d3c41fee1 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d72a9df7-1bd9-4908-9f38-eff838c37792 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abb87893-dd4a-4bc1-8b8c-e852d535305c phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:238a4262-02fe-47fb-a616-65136c08e935 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:768b55bd-a172-4347-89cc-0760c5765c3e phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14826f4a-38ee-476e-8560-b613ef16ce4f phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d58b1691-ebf1-44fa-8e3d-7c69326025ee phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9176155-cbe1-4d28-8df1-41d069ce22bf phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f5ee46b-3d3a-404d-b39f-6a6a3d7022b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33d50170-7c84-4827-8faf-89f07298df6c phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0664653a-b528-4adb-b4bd-26ca5ba5dbfa phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20522995-e8e4-4780-99c8-d6a1f9a73bac phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:094e1ec8-224f-4609-b318-5e5bde90c0e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf83f4e7-ad91-45cd-9c3c-1bac881b2748 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fc22cc7-deeb-4626-a02f-6a151815768b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e411def7-8b4d-4d04-bdb6-1c222f66c895 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5975938c-7cd5-41b1-a41a-30a6dc7d9124 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b65d6b76-ab2c-418e-b5c9-39bc996f9142 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85c34c6d-0afd-4803-b679-e476be8b2acb phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c59e3452-f679-4782-b79b-088ee6426a03 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b501260d-7794-4070-b35b-1094504324e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1a66d34-61e7-4a0c-9fd7-72371609d042 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d5449e9-c0fe-4c0c-8bbf-6929d2327a47 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38b24679-b271-4531-a542-1db10be1cede phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fcf5fe53-fec9-46ce-b64e-3ab62ca67367 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73d89e63-6ca2-412e-95a5-7041cd6fe99e phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ed17c17-5d5d-46c3-ba36-e19a2d0001ea phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:342f28f8-5eaa-4f1d-b4e3-0c45876d3328 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:171ee91d-58af-464f-b5f5-8d1110e8ccab phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a51ebdd6-0ae3-4839-baf5-c85b4af83bc8 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d69abd64-fa2e-40ef-8b57-4d588fdda73d phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39dad7a1-c08a-4078-9980-f4f5393d4323 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0be9a1c8-e4ea-4bee-90f1-4ee810dde89c phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:795f69da-fb93-43f6-b1ca-b79db5c83cff phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6aa9381c-d3d2-45dc-9e45-b83856d69cf7 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2cabb315-965f-4514-8ee3-6c18d7239c83 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c14bfddd-4f6b-4bd6-968e-97c91c613ec3 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8cb4b3a-366f-4b09-8e18-7f3a38838c18 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2565dd32-1ebd-41eb-9f00-9393a7c513b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c2aa98c-0c09-4533-9512-300901af5d19 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:743a9a7a-9229-45f9-8a49-5b45266a5dd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69fdd8d8-3428-4111-b578-15ee53b7c59a phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:487f3526-426e-4b5a-bce4-c73a1d8d5be0 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:868b7c19-822e-4c55-86c5-45b148a11ebe phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dda29d1-a901-47c3-a73b-27bc8b771615 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e28cc9d1-2f8c-487f-875a-dfae22c29816 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:016f6848-624b-4817-a986-25b69e5664ec phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed468ca2-a9fa-417c-82a2-2ea90b736c2b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:388db5c5-b7bd-4905-9804-9ccf5c809bb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2062bad4-1ebb-4915-897e-b303508d19a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74e1c167-2d52-4563-a9ed-21cc53b0eebd phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:844962d5-7218-4583-a0d8-a21b3206c909 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d175d73a-7ebb-42d7-822a-0d1e3513d783 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2880ddbb-c01b-4b40-a4e8-570a0b08a165 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:862c9bd0-e42b-4923-a702-039fc14a605b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:293f7b3d-ea7b-4637-9692-d5c4bb923e01 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93b62a4a-c23a-473c-885e-595cf98a8f11 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd4c17bd-cde4-4606-b21a-dfee8cf5987f phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbaca862-8bde-4479-864a-642e4083fd70 phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1183b88-1d03-4f15-8fb7-6dc9c9aad99d phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:73631047-4a24-47b7-ab57-da5cb03cee7b phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:4329fbaf-f9b8-4c44-9eb9-0f1224816987 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2f1f141f-eff2-44b2-a827-ac2d1039e10e phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0a6e9b03-eaa6-40ac-84fb-76df067ed1e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:441285c1-949b-47e6-aae9-9573a5e049b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d26210c7-560e-4945-8659-8d11fd823ea0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:606c7cc2-7539-4306-b44a-8090e9839b13 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5d66a7e2-74a7-475b-91cf-e17349594366 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:80e8ec87-ff80-43af-a315-13af7fcfb3a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:789fee43-40e2-47a6-b7d1-68b31153665f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eec3cd0b-710b-458f-85e1-86fadf0695bb phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:16425d70-9fb6-452e-8bee-822a92edb52a phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2a31badd-8044-4932-b89a-338454a85284 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f844b0ca-6cd5-4f17-ad77-6c9e409f7cbd phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:11cadce1-72c4-4572-b8b0-f639f4279896 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:039f9dce-1c10-434c-88c6-3c565a2080ab phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d3269450-ddde-475c-919a-a4c4bc0aba97 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be599509-7cab-4e1f-bab6-bb57fa0a1ed0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5925721b-c2d0-416d-aa5c-67bf10fcd22d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62a25d0d-c79e-43cb-a170-7ab248fdfc08 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb0533a4-20e5-46bb-8270-8dda4737f003 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2d72eaa-7bae-4b0a-a55e-985991903747 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ce5cb69-65c8-40e4-884c-0fa53852415e phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ea6fe98-031e-4dac-9af9-171b7b9eac5d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff1bd0b0-fdde-48c4-955b-d6c4aa5c26d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:374e0e94-2a8f-4467-8fcc-df6b5e9300e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d3925e8-0c4a-41c0-a364-e2a1a1678cb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae6f6ea1-0ddb-450c-ba0a-36e411336796 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5440cf5-1109-4977-91d3-0fbc6fbd39b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:746f59d3-f40b-4a68-84e2-e494d92a879b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b08e989-a6e3-4b2a-8f5b-ae7125852dfd phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:836d6d32-6982-44b5-b438-27d582316183 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2984402c-e2d5-43e5-84af-1b731dd16e54 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1aa3d5c-d326-4a93-a68e-2f0def873e36 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:11034593-4449-49de-ace1-e7642b80a2d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af19c4b8-14bf-49c4-a92f-1b9b56d66f36 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed7ad02d-f4f7-4ffb-b963-d11697e9855c phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab24d6a2-649a-4871-b64b-c7d8468c8c74 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64e44ada-7d89-4715-9d21-af233ee5c3f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d953578-bc47-4156-b304-5c91b1a65ec1 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:742fd5ce-134e-451f-81dd-2ddd130de16f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4529d30-48c5-4174-9d94-2bbb09b2f365 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51888d6c-fd8b-4d9c-8e49-8b84e5767373 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a2ea318-fc4b-459c-ab0e-129f69da7e32 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5af9377c-6293-4c46-be95-d5a9bab7bd42 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb217a7e-1ec5-4cb2-bbb0-7ba7ef8c18e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1330dac4-d05b-462e-bbe4-7acb40f1bcbc phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5957fdaa-d130-4a42-99f8-a5384fef6cca phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc2e5d54-23ff-4e0c-8bdd-a00156a5a9d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d312ecce-56e9-4b6b-a4a5-fe941544e0a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aebd63b8-1acb-4714-b04e-ee4ada645dd0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13fcb050-c3d5-4889-9ecf-3b5dbcd0aa12 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:508c043f-3733-45b5-95d7-729e8cebbd2d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c241c31c-0024-4fcf-b4d0-523beaa28702 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e688e6d-0d08-4968-acd9-5c6df8d8cc1b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a7b36d8-625c-4741-88bc-28dab3ed83dd phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bcaaf708-8b5f-47ea-af62-5419cbe9c31a phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca792590-75fe-4636-b02e-8a3f2a130142 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ec07bea-2dad-4a55-bd84-52b442819b80 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80851639-32e5-41ef-894c-bb7abfa3074f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:041a546a-22bc-4ddc-93f5-9bb103ebd898 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f0fb435-4129-4933-91d8-34c05d3748d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6f67f72-9d01-4a6d-bd93-df80c914061a phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1f2de7f-5487-485a-b91a-e476be7247c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0432787e-6a1e-4303-954d-42e11f23c824 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36c787b5-46aa-4385-bba0-9b0d1615f199 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:943de1fa-ef1d-44df-a3ea-90fd8ed65998 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5aa7a5b-39c6-4488-88de-2ca96c74825c phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62d39212-303e-48b8-a5ba-011c3232acda phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e600a6e-d1d9-4097-8754-070d475ee032 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1653b5b1-07e1-47b8-ae6c-fb6f69e49fdd phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4b093f3-bcbb-4b4e-8cae-8d698c0b877b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb5b7c28-af30-44ee-9e12-ef0b623dd951 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27c9acb2-8933-459a-9052-37e39ec297ba phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31459f01-b8a0-4c23-80e3-3c6fd1b1278b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14091071-26a9-4452-8854-4cdfbe98ff6e phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d714d1c9-129d-4371-9ceb-097a9984709a phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9817d13c-0a77-43cb-ae94-410f0aaeaeb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bee404a6-e7b9-4df4-bc6e-c0dda16206d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c285eb72-6674-4a5d-818a-0479e5222094 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dc0bf6d-855f-4cda-8506-5f2c81110653 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3203f16-ef9f-403d-aae2-ffed7dc9ba32 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96e6d9e6-4ce0-4865-8a4f-1a2173bb71fd phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a77cca95-2b6b-4087-bd5c-e98e1ba04270 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea810bb1-8d94-4d36-9074-ec5ddcf94c55 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74a447b6-55c3-4ce3-a871-bed0f106e37c phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b425c37c-e4b2-4bbb-975a-5a1c3f24599d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:edceea06-4f66-44af-b609-4ad95eb9faf4 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:585d48e7-c2a5-428e-9446-6fb72b3efc64 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:719876f9-0ddc-4f69-adc1-02210425e92a phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:849e1812-587c-438e-8ec6-ac4951a7300d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8da4a923-bd94-4f3e-8ac6-d1e5ccd8a02d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7dc8b6a3-ac87-48a8-855a-f797a3d3727f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e9c72ca-7341-455b-8083-b47a9de1e675 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc07e67f-202b-4015-9e18-50a13b4460f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74eb2aa4-3375-4547-b99b-004ebc20f0b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8aac31a6-0ee6-4e00-b152-7403220a5c6f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:576cf9d3-6863-4125-bddd-3c5d2575f47e phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70820ba5-ecde-4a74-beb8-33d264330b02 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ca47362-c83e-4404-80b0-4fe2ec24bf03 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df2eb22f-368f-49cf-98d5-ac0c7c1a3c9f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e482741-c4f4-4ec5-aaad-ae7fd89845d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae26984e-7f46-4eb7-ac93-0ba63fd6bfa3 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9dd3045-2120-43ea-8b8c-a1989ac76f4c phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abb8a21a-12d3-4c57-ae6e-bacc41acfc0b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:868589c8-5d95-465d-8c59-815bd000aa85 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:856a1f7e-0727-4908-97bb-c16515ac9f68 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2aee000-c1a2-4805-a25b-03c0610902b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:60703cab-2c13-43dc-9cd1-d700472e68f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb3ae98c-6b8f-4456-b221-e09519a8e3a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0849f2b9-2849-4e58-b8d6-1745d7d6f945 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1e313ef-0d15-4093-84da-5133b7731ac9 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26e70783-659d-46b8-b955-0802dbf56d6c phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74575a76-4975-40b4-983d-059ac0a8a2f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e47a280-a1e7-4493-bb36-84ecfd0bfa5b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5e37c20-1c93-4a21-a0b5-261466d97fed phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4737c5b1-cb16-47ab-812c-eed1f8eb88bb phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f83592f-1007-4e58-bd7e-d036c672d3f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32673d04-c0f2-4503-adad-bd1ff48c171a phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fd761e1-eefe-4d52-99f6-5d2080d49ad2 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b58b092a-b627-4a73-98b2-491d2dc3063f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e24436a8-0987-4f6f-83eb-bb932004f782 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86e3cb11-858f-4e87-9a80-06130e21e634 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d069c7e-f996-465d-b757-306a6923f969 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42195c43-a498-488b-82a2-e8244d129e2d phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3946fffb-2d55-47af-beeb-3634890e521b phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3039b9ab-bc72-484d-816f-48d35aae3090 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3e6782e-ea19-49b1-842c-dbeb1bd42ecb phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7b615b9-f0af-4582-8499-28a554c8f445 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec78ddfb-25b2-4a49-a0cb-ee4b9c8f1966 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb944b8d-ecf3-43c4-a4e1-d600513066fe phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f45b1c68-1554-44cc-a828-8704e09b10cb phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80507e58-de71-4327-a5be-2adcf8671347 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5cae425-5ff4-4aa2-8a87-c623c89bd2a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca518f0a-b07d-49ab-b100-f56bc5cbedae phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d5368d2-63cf-46cf-aff0-d7c93d32262f phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3f7d005-0654-4f41-bcfd-15c743a259d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:681a9311-72bb-4ec4-a57e-daa1d855c3ec phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1d86d63-850d-49f8-b88d-d99546d4e3d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a815906f-d3f1-4b49-8aea-a3823d0215d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37e18f1c-1a9f-47cf-9ed1-d6197748dad5 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92a397ee-6ba4-48bd-b40e-e06ab8920030 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2e51358-3fc9-405f-a792-dad86eec0061 phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:4f5ae267-f44b-4107-b69c-d9a8c45ad0fa phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ff5f5875-9952-4a82-85f2-7b7b5308bdaf phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:38991538 uuid:5c91b600-a347-4435-8093-f4781329f505 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:66a3accb-9665-4043-94e0-385d279e4e82 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:045daf3a-072d-441b-8bfa-a137b9000036 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:88d64200-ade0-4caf-b087-1fe34f97bd77 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:32fadb43-723f-46f7-a966-7d213def94b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e7a696c3-fae3-4386-9fc3-96da8e1b824a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a8e7b56a-b7d9-4165-b2b6-897a31e57235 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:70d000c6-ea8e-4950-af2a-5a20213122a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e534d26c-9e62-477f-aa95-982083ede435 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1133d96e-b6c3-463d-9e63-c4ee68edda63 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4b0be47e-d968-428c-9b68-cc86d0e42ac5 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eb9f597e-55e9-4c25-9cb1-a7e674c808ba phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:17ad2f36-8985-4518-8029-a13430787c20 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b04049c8-aa03-454d-a5e1-a2bf5689e7ea phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:448c9087-6e56-4883-945d-3c3c78a2bf66 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:921bcf3e-e6b4-4ea4-bb1d-515fea66fd04 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d3f8472d-7369-4c04-9386-667b9be12f03 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66964cef-bc46-4abe-8ac4-c433b858c426 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93556c4a-a3da-4358-9432-3327bf651f78 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e0bf9ad-b4d4-4b87-86bd-479696390fb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:253de478-282b-462f-acc7-2f61a0d3521a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb06d261-55d9-4387-8956-19c27eb998c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2ce0632-48fd-4ef6-b1d9-b622ec39ece4 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3e17d04-81da-4673-96f0-30f36f40dcc0 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a58c5b12-4097-4cb5-b45d-22e9e073fdd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45dcb973-2b41-40c7-b542-a88d3ba5a93f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d7b9112-41ee-4672-aa13-2099d01247ef phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a90d84ef-0d79-4e10-a608-481fdd6aa221 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6edf52c-e3e3-465d-a19e-35547e007ad6 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35915b9a-bb36-4e86-aab4-b9533a93d0fe phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f625c3d3-80f1-4895-941c-776ac27eab99 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7af7611b-4a9f-429d-8ace-562d24d9c76e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe168b50-8299-41f9-ac5e-89455664486f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1ec0fc8-cf1e-405f-956c-1186834f2a28 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a1ee956-cc87-457f-8c0f-39af54e7a87f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2aafbb5-3399-4ad1-a307-82abf59d4914 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5387687e-8d9f-4ba1-9e7a-c0a59bb1c48c phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38d3bda9-fd79-4001-b4f8-fd30d0209c0e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:369f573c-c690-44ea-a9a7-09acf4da4937 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6961e20-dbd6-43c7-865c-c5f562d4ebad phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96f25ec5-a082-4512-851b-a0546b2b1f0b phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5080aa86-5f1b-454e-a978-db874287defd phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70588823-0093-468f-984a-2aa329ba5d02 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d43e52e-1ce3-44c0-b3e5-cff820f628b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4874ef52-5cdb-4e8d-b801-2992fa417b19 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d72951e-785b-4ea3-bfd0-4f52de597234 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d87495dd-1770-402a-9c5a-3d2000331564 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:098db50b-5b7c-4d0b-8396-ac5eb8e0f5e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abb755e5-c0e3-478c-bd27-df4a99707571 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1664eac8-715b-484f-81f7-a1fe80d8ec00 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc61259a-0801-494e-b4ff-5fd616e20c78 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51370d65-7d6e-4b65-88d1-43e0aefc47f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:062bcca1-1f4b-4db1-b04c-8a9d277b6660 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab246f80-28e7-4e34-b613-db2ef879761b phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98ece5ef-2c0c-461e-9d37-824b017d10fc phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b23fba6-591b-4c3e-b2e5-85edba35e1df phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59da6d64-c124-42e6-ac74-2da4e0894593 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:324bee3e-d282-48d5-a924-8be81284ed91 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da4e34ac-73e1-4408-86e9-0f1b8ad85e09 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:123294da-3061-4c91-be66-e7af8ab22db2 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ad95c18-1acf-4e64-aa27-14ee8916ae32 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ad56eb4-5564-4e27-85ce-6752bfe2f20a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6e38b72-48ef-41a6-a3f4-9761c15470a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc1f7d6c-1346-4fa7-a00f-6ec05e4f272e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abd83045-45fb-4c8b-8a06-6cd7593dd61a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd4da6ca-2558-4af4-ad89-56f7f353b188 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac91c59d-e6eb-4d19-881a-5b0956cbccb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cf796d2-343b-4fed-8d69-2b8750147db9 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a2eb738-b8ab-40f0-b1f9-1ee33e003005 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:739caa55-21db-4a17-9371-74683f956c65 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:071c6157-da7f-4f30-96dd-b30776e03ef3 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ebeec3fb-c5a4-4e9f-9d59-5728cc972859 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a74819a1-0d2f-413d-a799-76b60fa17d5d phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1d4aed2-cb94-4944-b20e-994fbaea23c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be89abb2-f7f7-407e-9ec0-a9988f13543a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5b2edad-7af9-454f-a5a5-5dfb9e4d0136 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2e53bc6-5a36-4c49-b5e4-293edde963ff phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cbdc68b9-cb24-486b-b494-b812cfb05c33 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63a285a8-79ed-4d3e-b967-4742094e4e15 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7eaa6cd-5b65-4011-b20a-eaa286035eb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:492f9906-3ce3-46fc-9cda-8f875cac8347 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b19a780d-6584-4162-9eea-b4a693ac49fb phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:728e513f-e484-4730-b158-8c653b8843df phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47e21a7c-50a7-4443-b9b0-ec62dd0a12ef phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6439a6d5-5500-4df2-9078-1a9c5bc64556 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04bc1447-f149-4cfe-b092-4100a339d0c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:881a0cb5-036b-4f02-9910-44fc937f073e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca91c8d9-4f83-41e5-b8d2-9677b4f6e458 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1eb66b15-1add-488c-b2a1-02348508e5f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c596945-7437-46fe-ad2c-7ecfdb966ab1 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b2362bc-8fec-4167-9748-9ed880d29032 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:199ee373-0e4e-4aff-affe-5e708f43affc phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:425bc030-32e3-4a0e-b6b6-a7368af58b1c phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a22e32f3-9642-46c1-98ac-13712635c97a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa45506f-dc06-4c06-a14e-2d8498217f3f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:471b6bdc-78a9-4590-b9ca-a1e6bfbabb9c phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64b0da8d-b7a2-4683-9f0e-b6a529af95af phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ef81e9c-f9e3-4b35-90b5-d3396df5bd64 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7499eb8f-f76b-471f-9537-fd0ddc2e7db1 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f845623b-255d-4d24-a107-865939024663 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de70364c-6f3f-40cb-9f3c-9d355be20eec phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:156eefc2-2cdd-4d8c-854f-fe6e93c96d64 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d7ace6b-f92e-4e7f-94e6-f55633373b32 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f8ef872-e45d-4ea7-b153-a65565c274a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6b16433-f29a-4fea-b390-c94823c76dbf phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4990f8a-702d-457c-a973-bebd0630f717 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf788654-ab77-4a2b-971f-9e43a9bf649b phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:850f2568-15c1-43b8-a6ee-57d0e9082f4d phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f09125b-fb0f-46ce-97fc-c7511d6d0801 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33bccea3-ab05-4e0c-8564-310372c1e71d phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:261ec130-43d6-407a-9dfd-33d2c890e879 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24426bba-bb83-46a3-a0d3-9f927930c3dc phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fa6ddbe-5513-4276-8609-9b880a6b3369 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f40e0867-787a-4edc-956e-9b5e97fe3578 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ebf5bea-4a7b-4b82-bbde-0d8fdce6f175 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08399359-c51e-48f2-86d7-ab0b7640487b phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30a761e1-5abf-4236-8721-4898238b94f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e69969c-ee07-46d9-9e27-528ad9482f4e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:debf25c5-f947-4047-b597-a84830fcece7 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f74ab6b-e78a-4dac-8e82-09db8e777d22 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:290d30c6-f83c-4b7c-aab1-ed846d180c7f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df547eeb-eb0d-44ea-b67a-8e6d461908a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a99f1ef3-535a-4e53-a91c-2f1016e805c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d5423d7-1621-4aa0-9ae8-db104649e062 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af91d8cd-f774-454e-a5d2-8cad15899b8c phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:966d043d-6440-45c5-a543-29dfd6107c5a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38c8a8e8-21e5-494e-a14f-9c61cc06dde1 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07aa0db3-04f0-4dd2-9620-74dbd7da981f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:499d2500-d80d-47d7-801a-b01de4bf3c1b phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d7d303d-ae0f-4644-b3b9-27ac9ef19fd4 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a92e166-a74d-4e17-b459-75750a6b7caa phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27f231da-d238-4a7c-9f72-e83953c78ef5 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4925bba-8254-4190-b5a5-8c3109b32c14 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3999513a-b8ad-48d3-997b-f55a69dd5615 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75672a1d-6805-4c6b-90ec-0250f119b09e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:023ccd2b-b088-43f8-85f0-ebe5e08fc9d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da751bcb-8d8a-4e51-b783-f1507f42585e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ada6ece-390d-4ddf-a1e3-49f4ece4ccc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5767b4ed-9dce-45ea-8079-af1a9a8f912b phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4ef06e6-0fa6-41c6-ad61-e9a9f0989d9e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:585f0ff4-8b85-463f-9a80-2d7de1019f8e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a300636-d5f9-4596-aef7-7ba2f1f8b7e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:822cc997-f4f9-4f66-9965-d15c3431436a phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:905bdde0-ccb1-43f9-a8f3-7f2f0b1cb787 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f4e3b2e-c338-45f0-9537-8f66896a9a39 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6bd729e-c0bb-4641-9b0b-09ff5e41f2bf phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03c4d933-c0a8-42bb-b4e2-1296a9729f7e phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:248c060f-0c3e-4554-b317-82d5fc6ec30f phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df50979a-b750-4edd-b484-9c7ea64a7a28 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:9b0d4d93-8ab6-49f2-bbf8-449ea817bee3 phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:22990c1e-55a3-4284-bebe-f9df126c3deb phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:866d42be-899e-4241-92d2-9701052ad09f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:906ef5af-1f68-462d-98dc-06cea0e9e464 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0ed2beb7-e0ba-450a-8a8a-d0c387bd7d29 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:597bac58-89f1-4b04-b7d1-bf7dd585550e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1ce4a0bc-9ffa-41ce-8981-de985060ba0d phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:540410fd-0f5b-4d52-b71b-00f1632f88f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0a422d13-e111-4306-adcb-5b0561de299b phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:940622d6-9f42-4497-9aa2-26d17b109f34 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ec59e2d0-f97a-48c8-b57c-5d6139b6d7da phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6682ccc6-0a0a-44bf-8f43-fe08e028c7ba phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:88cf8f8d-1e14-4394-bb03-2926c685569e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:efd87abd-a771-4363-8dca-19bf6e0203a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:12c37ed7-d482-4257-bdf5-3509ae8025a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f4355485-1bf8-42b8-a28f-14824437d043 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba2dc711-b92c-4657-bf35-b4676d975bc8 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cfc57deb-7492-47ea-a341-7bfe3eafd847 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3eeeb04f-d7bd-4831-a6aa-9a1ed4d66a4e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f12ac51-c966-4d71-9f4d-e05d75e23dfa phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eed21440-b5e1-4d77-b734-fb1f5b9a95ee phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1133bf95-4ded-477c-9f85-cbd406dcbda5 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b9aa6ec-35a4-4d6d-af84-7f1a496c62aa phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64905ae0-ed59-48ce-8bb4-d988c05de32d phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f906f60-163d-40e6-a4af-46d1bf0eb4b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b1f1941-7c87-4c10-9126-6371f26cc452 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d4d9816-525f-4e88-8f75-56accd304421 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bed94acd-8aa0-4c91-8907-496b1bd02925 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3a78cd0-5b72-4ccd-a177-8d21e66ec73f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1516e76d-5729-4776-ba7e-83053b8ee5a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5d06a19-2929-424d-bd68-d95a461d7e3e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9ffa7fa-70e3-4e48-9b8c-c6d905dda962 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74e96535-4b70-4b47-b96b-d9b131160fff phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05a0ae25-7f90-4456-82b5-bc395c8fc70b phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:104c2f51-7537-475b-89ef-5d16b1a6d5ec phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b0bc2e7-94c9-4c82-b393-f1634adf74be phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d8bbeb5-44fb-451a-810b-2d070c92859b phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba4907c2-7da6-4793-abcc-e0a8bfb4eb7f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2844feb-cfa5-432b-81e6-dda524179f66 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa79f4df-684c-4cb5-822d-0a55b0419971 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb9d2348-2039-4ef8-95bc-a72c07f7ba99 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80835b1d-5547-49fb-a49d-b8f9177b73a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dcdc147b-e01a-4560-be99-cade9a843106 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:375a299b-a558-4b77-8b8e-5fabcd133696 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:087ddea9-d17d-4878-8508-7d9223c9a047 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cd711f9-e00c-4ee1-9b30-f03136067e49 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:616c9b79-fcea-4751-9236-d8ebee25ea0e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa546fec-b6a9-4d2c-a601-56de6534109b phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc85461b-7bba-4d30-8c9c-a1fc984e7716 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c60d9cef-07df-42a3-a096-29a36cf26ffc phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9be50bd7-0389-4fda-804b-6ec48055b62b phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b4d4e69-1ac7-4929-81ab-ac3b01e861ea phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53b9fc8f-366a-4555-aa2e-c525e5525d57 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c1cb139-274b-4ca3-ae63-a90a884e31ff phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cb4c3c6-cfa8-492b-89c9-8694c755f4cf phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a771d34a-b047-4476-890a-597343a570d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe58658c-2970-4d62-889f-6a9527bd2853 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f647e6e-89a9-45a1-bee0-7d99e17b8e0b phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:003cb32a-31b1-41eb-b8fd-1986afd8319e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9e47ca7-7c59-413e-9242-59f178b95a1a phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79884c58-7d81-4282-9c7d-dcc6acb55c52 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f290844a-1640-40ed-9f1d-b78898062c86 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c208c441-ee6b-4322-bf1c-7a97eea0fa5c phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6fc7113-fe57-4e42-9c42-369b7f9b076c phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57ee6a6e-fa5a-4371-aef9-2663349b7ac0 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fda4ca03-6daa-49c4-9762-dc3d7e9f053d phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:357f008e-932e-4f19-a209-f3c464168863 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed40a184-2609-4523-9201-14b5ccdfa2ba phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee5bc23e-0c92-4c21-998f-fb8cfa9d50d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f471cf6-7098-46ac-aa2b-aeffa10529a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86829ddf-9b98-489b-9a74-74015c0b083f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6dfb317a-e9f8-4dbf-94bb-bd33823a77e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa2c7187-94d3-4163-8492-d832d055a2e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d00f78f-ac86-4afc-9a84-bbfcbf3f7df1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c76c143-74b5-46fd-9286-883b587efc68 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb672a93-9df4-4336-8f23-8ea323950b38 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6e79f20-6ddb-4d9e-867f-fd1add4a0d3f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88718a6a-b83a-467c-a152-95de8ebe658d phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b006950e-1cd5-46b8-abe5-f8fc35d773a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd9de069-a94b-45e6-9389-ec8b19edf2bf phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:934443b1-b2e7-4c7a-b291-b712824326dc phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5225221e-a0ea-4f9d-81ac-e3ad233c5479 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a82639f-ae85-486a-a97f-d63a7ffb5b4a phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb5968b3-16ca-4b72-bd2a-cb26158d21c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd481de1-def8-4880-9858-cc8350fd605a phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3dc8481-2cab-4225-a521-4926b4c10d2a phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0722bbdf-5f92-4026-bb60-a009211b687e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7308349-91a3-454e-8a74-be0d65b7515e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e65263d-dacc-4948-9a5c-3ec6c47001c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e205afa-41b2-45d3-a1d7-46f068ab2a77 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:385bb029-25ba-4c1c-8f67-3c4e602de4d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b49acc6-9b4d-4095-b509-6a2c081bfe53 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d63f8b55-2050-40ed-9290-9e573ddba2b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5c9dc75-82f0-40cf-81e5-aa31f7c3be20 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74d3d3cf-8ab2-4138-9911-0cd8c760f636 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c514ca56-4cfc-423e-a32b-1860bcabc71f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb0ad5d8-ff09-4cd5-a807-bf4a2ef53a88 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aafd8e5b-b19f-4d1f-b810-ebea1b649705 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3dbd77e-ead4-4a0b-bfdc-57cdbc444a8c phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92ed5127-bb56-4855-b1be-e07aec00d8e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6e27f0d-cce0-47ac-924c-6c5da57053c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b9ad39e-7cd7-4208-8808-909526a5fe13 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05adc9ee-b864-47cc-a443-e0afd96810c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b62dbb7d-a9b1-4a69-8e9f-47aebddab007 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1776a06-8f2a-4d46-86e5-467b2f1020f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e02a82d8-ad7e-40fd-bcce-0ada719f4546 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87e54faf-d350-493a-8194-9d77b96a3fb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fec01ec-edb1-4d7f-a0af-628362990eee phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:162ee122-0dc3-4796-8fe8-c363bb406864 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c79cfa06-e645-4ac5-83e5-5ccc2c9052ac phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b64ef07-ebcd-470e-acac-32984683cec1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f4823fe-c0ac-4edb-97b1-e7dd83608c0e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02c9443b-1bea-41c2-9919-566c178e1f69 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec924018-54c3-4e68-95bf-da5c6cf5454f phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4122d3cf-1c0f-4286-a613-20adabf3e82a phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b98295e-8726-47e0-9cae-2ec5bd7161e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2946001-7144-40de-a622-fc38582b91d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54e0d684-3336-405f-8922-0254aade91b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58844193-38fa-4e22-8b98-92a5a6dcd6e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c90b0977-eebd-4b93-b8dd-fb20a8ceccc8 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dc9f4c5-8f2e-420d-8f93-f0087c0d0601 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71527ad6-8804-4289-afdf-64d967a26ba8 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27ee4fa6-56c8-4fce-9b44-0ba710727cdc phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:191145f2-b481-4203-a98a-09e8e8ebe2ee phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e1d9a0f-f054-4485-9663-a18cf68b64aa phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05dced0c-141a-44fb-8659-67f01ac3f53e phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:979da763-57dc-47f6-9271-35e96681ab25 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75679b48-2f0c-47ff-b95e-f553a3b24def phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa3d7680-8bd3-44d3-97df-2a4a308542e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fb51be5-b043-43d7-9569-e44b1bd22b14 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a66ec59-64a4-4960-9253-7f7404addc8a phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c11495e-828d-4103-b0d5-e3064119f0cf phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19dd0a91-ded1-4879-96f5-370b870522af phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8bdf224-8dd9-48f3-a786-459b1f647cb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95b26ca6-5978-4e38-be47-b6adf2629c36 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04fddb55-44c8-4e88-b7ad-2cc7b929b0c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8130d17-b91a-41e5-b3f2-491de0e55a52 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77590307-7848-41da-90e1-336487b43bec phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1bdbeb2f-7d2f-484a-99b0-4b84a863e404 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54b5a37d-d246-4724-831f-37e7dc402f54 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ac61850-2059-4110-8809-406cbd7000d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec52cc21-2557-4fbe-bb1d-c2dc62a68d02 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd445a56-68a5-4df7-8ed6-d8c9cbbeaaf6 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:093727e9-b6d4-42bb-98fb-e4eaa2b7a6a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e6d0ae0-5d8e-48ea-ad9d-e8744e962989 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2d198eb-bff6-4785-a4fa-93adbc460f62 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9dfdbe74-a4c4-4c95-8726-d993ebb60dd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:c6e9c00c-e03e-42d5-a1fd-5131c69b2f77 phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:e9c55645-3a86-4cc3-a1e8-7a5779315169 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6ec22be2-00ca-4911-ab80-b81c43929512 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:52f1407a-7623-45fb-b355-213f4bffa118 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7e6ee202-7ccc-4b0d-87e7-189572705e67 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:61a1afcf-55e9-4def-8ad4-d8afaf345a53 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:350d15ca-d455-4fa0-b7f7-bd2bed8221a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:88d09162-6f9c-4b9f-95aa-a9e326cc68fe phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:30b230e0-5171-464f-b78a-9ba00a179b76 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a97ab9ea-00ac-4719-9755-06316a10b09c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bc8ce928-bc3e-41c6-a5c6-e33ad8def308 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9e6ccd79-7bb0-4935-b9d7-754e05d8cf19 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1e4ea661-dd2c-47a6-b069-62c62368ae22 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f2a5b456-80c6-4b1b-a982-6b1f83306c95 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:77bfc3b0-90a2-43ac-af08-1dce230bd69f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:129b5c4e-21b7-43da-99e2-954b70aeca87 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dca64c25-c4b2-4f0f-85a2-d2347a4cdcd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:12cf444c-a223-4f5c-81a6-3de1d1da4dcc phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3fb6e5a2-b340-4b94-a2d4-e2c148534f4f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4263514d-aea5-4466-80d9-e47c64990c6f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eea74c42-4fea-491e-b255-818730dc75be phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a03fdc01-a682-4105-a49e-32130f6af8ba phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:669562c2-eb6c-4b72-a8d3-4c045e275340 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:42c90e31-13ad-4859-8876-854137d229b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2241188b-cce9-4d7a-bda7-b85de5632f86 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e9583807-8abe-4354-8060-105682d0c9c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5e17b1ca-0d77-4934-ace2-66692f02dfb0 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5327545a-88b5-42cf-8b30-d237a7fe9905 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:41bae0cd-3636-40b3-bad9-256892ec7f4f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ef8ff8af-1995-4bd5-b2a9-9164c0a3bf89 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a56a7652-94d8-477a-99da-320faa2b7514 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9f686801-3b45-4b44-b348-5ac9ebb20b2f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:adb9763a-a15e-4afa-a22f-1c94dcdbbe42 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:80ebabf7-0857-4e3e-b434-5a4943a815af phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ffcb98db-f84b-4850-9492-d71023231ce4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3e68973-c959-4eca-ae20-2497e88be76a phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2af6a32f-2ee5-499a-a8e4-619bf0e7cefa phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:154db8c1-989c-44d6-83ae-ef8d89a923cd phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:856f33d4-a9c4-4d44-a4e5-2f9e91fe96de phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac199503-2d37-4247-a9c2-601622289aa0 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83556702-7964-4b61-addd-dc22d78920f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb588617-51f4-4b3c-9785-4742f37e3d65 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a52e37b5-c968-4d84-a333-ccf8e94e96db phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32ac794b-d7f0-494f-bb92-646e85aac1d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d35d47ef-547f-4338-9b5d-4a29f1f0c1a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5d8846f-c49c-43cd-92c0-fa8c66535cb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dc67823-6757-4fcf-82e6-f87df7645840 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a890f10e-391a-4329-8ab5-ed14532a6122 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ef054af-165b-4533-b37f-a30426984d10 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9713f156-5f57-4556-90ec-bf727e3a3daf phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9837580e-b61c-4fc3-808b-23dfeafddfb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5ad85c5-9793-4feb-8f00-a50a8a8de157 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f11a413-e52d-4749-a6c0-a00feb5639e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f37a74d0-6d75-4bb1-a1a7-2e0ef123f1c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80338e02-96d8-4512-a573-9e2f1d892a47 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa46a2ff-6339-4841-ae9f-28a400f2f592 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4da98008-cf07-43ce-a03d-82888cc8639b phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b05b1eb-caef-4d5f-88de-86755741f481 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a881030b-b8af-443a-b3da-1dcebb336b4b phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abb1adad-797c-4042-b442-490f6760275d phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aac86b6e-d918-465e-b2b5-34e8608c785b phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b13c44a6-0f38-4cb0-a449-7a91cba4f878 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87e0ef5f-c26e-4b6d-beed-6ab4851332e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64afd77f-7266-4402-8636-8dc9fc32b750 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fcb208f4-394d-455d-8891-a277175f699f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de691ba8-33f4-4956-b7a9-84db08779468 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2caec781-237c-4728-94f5-087885a6296c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8783a2fc-cedc-495f-85cb-20a98b6598fc phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ac9e3a6-f7d0-433c-b6c7-813e4639e8c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37270757-afc8-4e36-af31-c8e1a2c1dcec phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:868ac435-fa2b-4b1e-933c-dc4833af2a23 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e4795d4-cba8-4cd1-a872-e0383e3c1ddb phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e2cfae9-fce0-47c7-8d33-4860f13a7f3e phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6cd3553-a7c0-4256-b0d7-da7de6ded414 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe3a9db4-6b2a-48cf-9384-0dda1cd8bd1c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:499a52b3-371f-4cd0-9164-20b0a0afc5ed phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c86ad460-d57a-4590-aef2-3dd3acb698d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9093709-a221-40f0-a9ff-9b7af6f77a99 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f422b233-eb0d-46e8-b958-0925c769e2bf phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51ad6235-9792-471f-ba78-fb7544fcc70a phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19e10b3c-9e77-4168-bf80-f55f66b5a088 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f985f59-8012-4658-adb3-7637af779dce phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66a6a01a-fd13-4996-a4b7-5208f226b809 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d80bf2ed-a985-4307-8f1c-ee22e79cfcc3 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0660f0a-d2c3-49d3-95bd-f001480ee986 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce1800b5-6802-4c64-aba9-9ad2be13deb1 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:398b0270-6bc6-4697-a394-7e34bea9e456 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aab586a7-031d-419c-97f3-45aa5a1d837e phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3ea78cb-aa1e-44ed-b9f7-379c0c65ad65 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a410701-379b-4dd8-bd53-f8908fcfd8e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b386c83-b21f-4128-b7a0-9872a75e0d65 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:828ed48e-a27c-4c12-ab23-f4f69bba3734 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef617970-43ea-4757-9273-ff377e6eff0b phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61c75beb-b43c-4fc2-aeaa-7b8e707e0094 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:096fc00b-4afe-40fc-8c93-d34ca22d50b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf135e23-709f-4f3f-af1b-aeb2bd10f6fc phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87b85c01-e21f-4c42-8f9e-f9bd052986bc phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43b0d2ec-16fd-4c08-b825-2f6a6d4e8979 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a029615f-809d-4c93-a8e2-db1c5805086e phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e04e8da6-3452-447c-97c4-c0d3f5aa0521 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:076ee4d2-e906-4476-93e8-b71a002447e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b794dbe4-fc14-4c1a-a6d4-42cf4fcc022f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:edbd8c1d-b723-4d38-bf1e-96483fc88fad phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:541bf650-d2b3-421a-8619-af04d2cf855a phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b413333c-5c24-4de3-b62f-893d9acdeb23 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ca32313-99b1-4607-9a7a-af72789fb175 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9a01279-465c-4cbe-b469-f49665c25072 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8f24197-bd2b-4add-9ef3-359cf3aeb680 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2b7185d-5c6f-4653-b0e0-b8c24689ab54 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c9b4166e-b00f-405e-b3bb-75f4ff69368c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d75c6cae-5009-4ab0-b06f-9b40ca92bfab phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9f8d459-fd58-4b11-9c59-11c6f71ac7dc phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fd7bf8b-131b-4fc4-8127-c055e0be9b87 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d836ee1b-7086-4665-ab11-f7966a471802 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7df47f3-a2de-4f87-814c-a0c13c864893 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe831d42-a678-45f2-a832-4902e1eb498c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec5a7d59-9239-42bf-b632-608ca48f4725 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a465a87c-8248-4621-ab04-36437d7675ff phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:60c45525-b60f-43fd-a9e9-490b56c25f61 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87c5ea00-4ac8-4238-92e4-2c627f97845e phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb9111d4-2499-4c4c-9b2f-db1c8efc8d4d phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1801f3cd-11b8-4aca-a550-8e9aec4a4ca3 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1717bc8e-c811-4e8f-aad1-76c2d1a6d3a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:511fb6c0-d337-40a1-8bee-91a1f757f420 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:762886b3-79eb-4b60-b803-0c10a4da573c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e642acdd-89da-4d3f-ab0a-a780df485bae phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ae8692f-c73f-4138-af51-c3b454bab052 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f73ebc14-b403-437b-8de4-af44f5be0b46 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6988ed8-2b23-46bb-89c6-e300e4b58e5c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a171cd6a-975b-4a2d-b31c-58f09e42adad phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16b1efdf-3619-4f82-848a-d6e2bc6d0419 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0e41010-e4c4-4961-a543-7541713c7c88 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb101cbd-d39e-4099-9a15-a00728b9476b phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65aa8fec-c184-4457-8209-72e8a03d64e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5778cab9-44e1-43b6-93ec-909bda6286ec phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39433fd4-e72c-47b0-b4a8-67602bf29b24 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2630f05b-6636-42ff-a41e-69e322435d09 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82e18f7b-faf2-4918-969e-f33435a2829a phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:baac6013-aa4d-40e2-ac19-1f31ac119c8c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eec23df6-e350-4e66-9ab5-166a9eddb9e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cfc73f34-5feb-4902-8d47-1d6d974cbb82 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81d12990-17c6-4fd1-8dc5-6708b7c4337b phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc0d8716-385a-4f54-a601-85267c26f07f phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce215ef1-0c0b-4cbc-8b6f-b27c0f954f23 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdb2bf85-adc9-492b-b79d-8c902e4a5f3d phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2ad8690-1f7c-4c8f-8fa1-cfeec2c29cf3 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2d38f1d-96ba-4474-b2a2-e09695b4f343 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7e48723-59c3-48ad-b16a-cd4e6edc56d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:581c6849-8a76-4313-83c7-2f86e79b63f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64fe34e7-1a1c-4fdb-819a-f677e16ed57c phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ea6d050b-4bf8-445f-8f0f-a7ccb66b54c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:345de59a-0ea6-4ea5-a24a-3b94a1d28265 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7e10f7eb-0238-4b95-b3ff-6b3d5b7f28b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e66e84bf-0250-4467-a4c8-aa4de01c029c phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:499d837f-3a2b-47d3-9526-5c3583e8c4cc phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4f3e1449-04c5-4ebc-ad6b-7ad120c55193 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:22de97ed-5759-44c4-a719-c79613ff9dd2 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:faf653c7-e6d9-4724-9f6c-57f17558a49d phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:33114f6b-94e5-41c4-a8be-db3abc183af1 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1525448c-c552-4946-aa86-2a7425b6fc54 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b9a698c7-da14-4093-8ee1-e68f3dda19f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a8588140-6b36-40ff-b90a-4d24bc35fdb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2ba20c2-bd27-4b30-8d0e-9e7c7023d564 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cd8f1cd-df72-4003-b362-acb75d903899 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:384ac753-24ad-4e20-b4b0-82fdd773364f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:617ff34f-2c96-4762-b7f3-99877409e91f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:102135a0-aae0-4a7c-87e4-f948722f0494 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2873ca2c-984c-4c0f-84b9-75e1d8903546 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3bcacd70-09a7-4ec0-a320-0fd43339c772 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:651da90e-96a7-426a-b550-94c0e5664ad0 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:253a0ee9-a189-4526-b782-2b7938d8e88b phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b37770d2-cd63-411a-9fee-8fedd5062c21 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d26ad6d-d463-45cd-ac6f-d1573c3019f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71b025e6-a3e4-4cf2-93b2-db3edb0078ab phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee9838f6-743c-47e2-8040-8823eac09ae0 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12d1f90f-cbe1-4cc8-9e6d-81a3b4d5b8a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba164dbf-cdbc-4bb6-86bb-5720c0db3bdd phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4c8ae3c-9388-4ab7-8b76-11f5ba9c5a51 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92edbd9c-5b02-43ae-b373-4605ffefbf21 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96d5e1d6-3932-420f-8568-03d81dc0719a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2324b51b-9b67-401a-8d58-830caa35bb2d phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7175e54-848f-4a5a-ad1a-90f22c95189f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cc3c193-235f-4753-ad77-f71cc6be0e9a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d88dff7c-9b08-4860-beac-c3f476ee7e29 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96d7ee62-e9fb-4ad6-ad15-4445e8ade2e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a40c82d-6af1-422c-a2da-414e93675538 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5735c2ea-aab9-4e6b-9553-3fe25b1dc14a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c94aa0c-811d-45b5-9c3d-20b55dbfea7c phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32164abf-815f-4430-ada0-5a770a74298f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b3d5deb-95b8-4388-89f2-eda2acad22a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a198660-6154-4528-a983-a46d1cfee329 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4a50edf-79b9-4ad5-82e4-06d5cd6bf1a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d46da1fc-44b4-433e-88fd-c175e847178c phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4727b4e2-5d1e-4c7e-b001-96fb78694b68 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3ee140a-fa70-46c6-89f1-9b74521f4919 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be1181f2-e943-4565-8f6a-4f55d968997f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d60325b7-60a3-4861-a29f-e50162f6e3c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18edd9f5-8cfd-4aef-8b47-371c9042fbb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5b03576-20f8-4884-8bc3-5ca80a1e0dfe phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b1304a5-9423-4ccf-8b95-26b671b9b8d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa9f4361-ccd8-494a-84b2-76a6689c10c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54309988-94ba-4efb-94d3-ce2eb3c208b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95e8e504-3eeb-4149-a0ab-c8af09152338 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88b7cb3c-0ed7-4f59-b846-ad2b251b198f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acbd1880-357c-4815-862e-ea6c69def186 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eaf40857-2580-4d0a-b38f-4ef15b50680b phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d7a2c5e-5b33-4baf-8db3-b34fd4be1b90 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3206e802-2a13-45af-817b-d949addf302e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b620a76-e694-4bc9-978f-cd2ae24a1cb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23d56291-ceab-4009-862e-1c57f2a6eecb phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18f2c378-39b2-4d50-9609-97d10277a384 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7baec013-ffcf-46cb-9f12-eb96f35eda85 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72b9c57e-fe1a-4b84-8d26-02c58a801c66 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8eeec5bf-f3ac-41f8-af13-7b0821abee9e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc7c6015-c7b9-4d0c-8ec4-cb99a0725d4a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90abb8d1-c4b5-4995-becd-6216f41ad24e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ebba6db-8aac-4a4f-8918-2f504725efa8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:91764a49-6f7a-4c5c-a63e-930359f6c25e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4755da0b-c748-4337-bc7c-4e0187984072 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:997c41d7-ecf4-4440-94af-7c0212aa91d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d01a31cb-6c2e-40a5-9a6f-f2d94e17f41e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:905d63d6-34ee-4853-a74f-703bb6767519 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:613bc36d-793d-42e6-a3e3-9b4a1ca3bd5e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33153113-b561-4b9c-b8cf-a19716ac7bc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:891c9a58-9846-458b-b13d-fadcf72fff7d phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8c86eab-0722-4b02-b5dc-61e56692333a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76453ea1-9fa6-4d72-8fd7-3b45f6cab782 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1c422e1-5eaf-4ff2-941e-4117832a67dc phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba8104df-e370-4ce3-b0ed-d1f1c5984f28 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acfd85f3-f508-40af-b53b-60dd46a84abd phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe79a76c-8624-410d-821e-3acce865afef phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15c359d7-41b2-4619-acd5-db956bd449d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bea4cde3-b85f-4f66-839d-d13c6bef22e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4d0ec2b-a9e3-47ee-ab90-d1cc0b588a02 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1883151-4dd7-442f-bb9f-9892d39ec795 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df89aef8-03cd-412b-af14-52522fbb376e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56082057-e8f6-4264-8f43-2c94f1a577c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a9731b5-f19a-4cd1-88bc-46df7429a78a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d969cf15-1ad7-498e-ad47-12a40c5f737f phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14e910c6-cb2c-4e1b-9320-bdec87b60bbd phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:200062f1-7570-4578-84dd-016fd60c4485 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdd52b51-4e01-4843-a11e-777d73502de0 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fc81264-f6d2-4ac9-97c8-90a165759f68 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d15ef8c-202d-4c53-926a-601c43bb3f55 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a80ceee-882a-4951-a93c-1553ba28ee80 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a69bbedd-f3c9-4ee5-950b-dc5f2a2c9ddc phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03ae33ff-c6e2-4935-8a5a-205c928f69fd phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14fe0b5c-4920-414d-853d-31503b3db68d phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95bdfc99-1379-4329-bd8e-393813589606 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd188589-3c75-4d02-9570-eb71d5bf9c67 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ecb4d45-88f1-4648-a5d9-70c5a9d5000e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cc471d5-1a93-4acf-a95e-486811483171 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a4d13f6-cd2b-4354-9d36-b4c68fe8eb44 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:208e9a33-0337-4bf6-8153-cb27efa917f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d49a145a-54c9-4115-b2a2-39125c14b126 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d1e9ca2-d7c8-480d-808c-ea6676c09d11 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b063566-9b4a-46af-a595-47fe35a79876 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f884b10b-ba06-40b4-8f22-172eefdadd0b phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f257c7a-20c1-4802-ae8b-62181899818d phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89c12346-67a5-49ce-9134-6bc255f190bb phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ae3b129-3c70-42ae-a0ba-414e10abf378 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4d80df7-6f11-48e8-9fce-69a765db664e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9445a920-20aa-40d1-a148-de707eff557b phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5918bde5-9fea-4753-80a8-fdc2ba062566 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bde32de-5b05-45bd-9f52-926a13b5669a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e28f3d6d-0176-4cae-a780-58c6b113f79b phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee2d50a7-9897-4356-bd39-8bdf8e6a8354 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ac1420b-e11a-442a-ba99-f09236af3910 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f312768-4be4-4e23-916c-43bd4742008d phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3646c22-8cc3-4f4d-b523-66c768ff547a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ecbc926-2c9b-4360-a3ab-bf805a6357a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3850296-76fd-4de2-901c-9ac812a3a063 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93438c28-61f5-4eff-a0dc-4d0ce23c9bed phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b89a50e-669f-46a7-85e4-be8e677ef66a phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdd3243e-10a2-4810-9b8e-549223bfb7cb phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45e9a42a-c08e-4edb-ae24-8e181c54795b phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9e3cd5e-2036-45e8-9f1b-094e9c8d657c phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8481acc-0bd9-40a3-8c16-4d8b2629a0c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eaa272f4-2865-4353-bda0-ca64a5793a94 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7548fec2-d0dd-43d3-a440-c59535391693 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:404f3536-60ee-4f4b-8800-30be8ed896f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e48935d4-b8d0-4877-8f1d-b2b6e65f02c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b1468b0-90c3-4a5d-b4ff-0d10a44f0ac0 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5ec88a3-89d2-4b5a-8979-8e5890c18182 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85450487-d1cb-4503-9aad-094d84fdd766 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92fbbb23-b56c-4cd8-a005-bfa80e001cb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb1b18b7-f12c-4ee7-842c-5fcba3d88940 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94bcdb7e-f10d-414d-8688-246d3b894bd0 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a12604c-7440-403a-8673-7ae6b7da9d2e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a7c7a8f-464e-4ee9-9f8d-8938b917ae65 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:962e1d85-a5bb-4a74-9c72-dd95b66ce4c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c42904bf-9dd6-4023-954f-9795193b98c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:585aece4-ac0c-4301-84e4-dbe8f40c72e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c20c55d-710a-4ab5-8632-ebd50c5160cc phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3184874-7685-45d0-b404-e1f6a7881942 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1881f1d-755c-492d-9f27-3d555cbf9d36 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b09116b6-59ce-4c51-aa41-cd6184095e8e phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cc50f80-8e2a-4a29-9665-95dc1df32125 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3bfea67e-e13a-4590-8015-7bb6a49d26fb phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51e16cd1-366a-48a8-ad83-a4e5bcba4958 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d622f122-d4d9-44a4-b82e-28160362ac86 phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:8e80d004-febe-4991-a22a-6a556a1bcce3 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1ed388f4-c40f-4bb5-a446-26440203670a phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3970d7c0-1e38-44de-90df-8474b2b71691 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d543e3ce-d007-4c02-9946-ddff39bce4bf phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:fc0d48d6-a976-48d4-945b-4d72fa2ee672 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cfae136c-0a90-44a6-a911-19bf5694fd13 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bf4a6f74-a4f1-4245-81d2-50e15aceb726 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:92927f94-5ddf-40ca-8ab1-e5820d7909b2 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5dfc4ad3-113c-450f-991d-812946a6fe83 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d663bc72-43bb-4679-a608-f81542d765ae phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:27df0d08-de8e-4fd2-b55f-7eff9a7d32a2 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4e076987-273f-4bc4-9e30-155a3dc262d6 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f9dd88b1-f161-43b2-81a6-aedfcaa1f547 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:dc678abf-f4a0-423d-be73-8dca587703cf phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1d1f81a9-17b3-41f6-8def-c6f5b21c5feb phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c59b3bba-9894-423a-963f-4d7ee1e2c645 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:44cd4d3b-39ed-42a9-b9f8-50e71e0c39a6 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1c78e62f-1d80-4dce-b931-7209e74f90c1 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:80ae0cc5-6b12-486a-8a36-3b70bbdfbcff phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7cb2270b-d9b8-469f-b6b4-ec568f452d69 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b73a0638-5993-4c94-92c3-1048251791fa phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:21a2f6c3-0b8e-4f53-b014-2ce3ffd99f54 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:41f69841-592b-48f3-a160-835817c013b0 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:dec7b6c8-bd7d-4441-94e4-cd1825372a82 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ae850dee-7191-48bb-b691-97dac433f861 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3727cd00-a38b-4e1b-80f9-6f7b3f43d106 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f545ab32-7465-49e6-a170-552bb81c011a phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:13b05397-f4d6-4b56-9846-798a2c3a3811 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:06b38a62-d663-4bd3-92dc-e21f9f03325c phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e8c23505-3ffe-47dc-b774-f6d85b176f17 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:34dc2b11-2302-499c-a076-2bd9a203360e phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4e81aff2-2245-4157-a8c3-5f80b7aa9d61 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6e9e514b-cd1b-4fc3-b0c4-4e495239c9ed phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:62d3f13e-d229-4591-b204-f5ff1ef64056 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9e822833-45bf-4f63-ba12-72005aeadc46 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b1a07652-5294-4185-8ac3-d8258bf16d63 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3ebd9f53-32e9-4ff7-a86e-e1af81d4a34b phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6e504fa9-ffc8-4c4d-a188-0dda281df34c phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c17533bb-dc59-4e06-ace3-bd8c4c45e0d4 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:285b6962-68cb-4d59-8a69-f60e34417813 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f4dbe76b-c8b2-49f6-b30c-c85fea5a0250 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:20a5f21b-4efa-416d-a6e7-c14a3947d680 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1ab9fbfd-f248-42ff-a12f-684fde4d5415 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:babc8c70-5de6-4d9e-a571-1778282b963c phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:61d12f31-2e6f-4c8c-bd19-0e33cac56e5f phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d799649c-aeee-4043-ab2d-759c19b541a2 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:129e2e99-8b5d-48d5-96ec-efbbe46a7d49 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8ace6f19-2973-407e-9ee7-f9f6b61ad5dc phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d2e3facd-13fd-4289-86b2-a61e38a26e9a phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:48bf774f-9de1-45b3-9e9f-893f53c14801 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6926f266-81d7-4353-9c92-604124ad0e91 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bfa14705-6f86-454f-a23a-5395766fca38 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:446e0978-1d84-4736-9f0f-e068e363e507 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1c780782-e001-421f-a0e3-0416874b7e7d phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:762a945e-da26-4150-83dc-8be0949956fc phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1ed590f7-2ba7-4af3-a9f1-0783ea2c7005 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1bff65c0-f68e-4cde-a2f2-5bc70467ff1b phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3d0929bd-cd45-43ea-a956-6fa63b787315 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:81ab12d7-cfc6-4343-938a-0e5bd79f62f8 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f2c56562-8e23-41b6-955d-b9fae232e5c5 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9f4118e0-7bcd-4248-9e27-54e72a2843b3 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8e3e7676-72f2-4f56-aefb-fb7abd425047 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f7faf9d1-c28d-4603-9a3d-5473ba7a6efa phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:83f077b5-07c5-43d7-9df3-dc64b4bf1c3d phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:714e0b2a-165a-4a7b-85a9-908343c7c490 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ec3e105a-f5c7-4b30-8c5d-2827f6cbd610 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bcc283f0-a31c-48d4-85e6-ffb59f99b0a4 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:28149d76-3734-4e66-ba4d-2aa9382ca051 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b672dbf9-c3d2-450e-9da9-f502640152e2 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6fef87f6-1092-4a9f-99ca-b328e14cbbf7 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b5ecf206-bad1-46f9-85a8-cac727246cd1 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:07ab33dd-c714-44a2-b8f7-6548a5ca1247 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:a3373594-604e-488f-9428-394ae0d02c34 phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:c74fb19d-45ee-4d81-9c43-d6470f00f0e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:38991538 uuid:c14d19a6-67b8-460b-8b4d-a187b61105df phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d9902e56-fdd1-4955-97be-6cac437d0e83 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:51bcd19a-0824-40d1-b57c-833c83ac33d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:72383a63-503e-40b6-8e11-3f7f54c96bb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:aef7a2db-5f8a-4283-8664-ece588ae91ec phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8e6e2b70-2111-45e4-8d73-124ac38f8520 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dad0781e-618a-449e-abfa-86c459d9c448 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f612becb-7696-469c-9b4f-44ea8b3f1d03 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2b18fa13-5ff0-44f2-bdec-ae3d8dc29ad5 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7315907c-cd67-40a5-88eb-81ba72011026 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ac56a70b-521b-45c1-85ce-09a3031c1a42 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bf0f135e-cdc1-4d17-8e91-8df35f716bb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:843a7199-d38b-45d2-a8a0-1112fe2afce7 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:05a8885d-edeb-432a-b587-96534a800817 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d01258b8-8f2a-43dc-b107-6e847c2e7798 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2153b064-c42b-4d22-92a0-757ff84ff781 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:aa22599a-c09d-4e38-b948-a2b3086c9e3c phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:86d0ff1d-6830-4ea0-9f34-0918edcd5fcf phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4952521d-28ea-46d7-88a2-e41bfbde3276 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b71fc8a3-c189-4dcc-8377-7ea6f1a40858 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e996e470-a4d6-4469-bb5c-20058ad47124 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90b6b2da-4c27-401a-9fb7-7af8fc3c6f04 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb26cb02-0fda-4f7e-9117-69dab5e3575e phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c69b1af-18f3-42c6-a372-e2e632f1060c phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a102353-108d-4326-a28b-4322d0d5ce66 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46b4b4aa-dec4-4aae-835d-d576c9688e95 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8374290b-17dd-470d-bb8f-20509c650244 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7813857-e702-4ad9-ad97-05e209b37e1a phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93f5fd8c-2bce-438d-b200-2725e5abea7c phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cbbc7da5-61b4-4a5d-b609-7cd1f17c9309 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2361a235-8163-4d90-ad1f-07c30cde53a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35f3b31e-33ec-4048-a5da-6341d25f16dd phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1df4f420-4655-45f3-9cd8-ce5ec649e075 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72a60aeb-6bd4-4248-9a8d-09f6f9aae2c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27bc970c-4905-4572-8b56-fdf3065b1782 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:edeb9658-3b51-4b18-aeb8-2a579340f66d phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad54a90e-e92a-4c05-a1b8-d49b195ee113 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea09d996-0fb8-4947-b1c0-f6cddcda15bf phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2665fd9-acc2-47da-a152-60ac2e7e24f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:714755ff-09ec-4887-9d67-b2104ee79f14 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa687a61-5796-4ff8-9410-55b97beebe69 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5766de0-446b-45f5-8d32-05dba10b4e27 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc99c3a8-1fda-48e7-9c73-7d42ce319018 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab000814-413c-4580-badb-96b4b71a2a2c phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:068d27ef-01a2-4df6-a151-c4a0d50f9751 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0af75b86-d0ba-4821-a189-30cf41ecc29b phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c34ca753-83e3-4f75-93a5-f41e2071ec1a phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c484cde6-9a49-42f1-b1db-a7a2343c57ec phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:baa27b88-2672-42cc-a070-9d29f2961d57 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7de32b50-9762-4275-bf86-0b45d29975ef phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a97612b-66a6-4d87-957a-933f5881fb7e phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6817f8a1-7b63-412a-94ce-0cb4ab49b9eb phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cfe2c16-991d-47c3-a314-eaa9cf41b5dc phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6548d8b2-8c22-4d3f-8ed9-4139c7d06928 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d2ed748-e18e-4dfd-a632-df1977c6c6f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa46d20b-e4d0-4e83-823d-3a1fa3dbcf40 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5cb6198-04cd-49ad-a879-54bbd792e3dc phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a39f9fac-9352-4d57-a2da-1be101534d99 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f2d27b8-2fb9-4a79-b653-b66c32fd7235 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfa6ebcb-e637-4b97-a35a-a66d6f688bad phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af6b60e2-e014-4452-b51b-08e79cbf69f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81c9a634-6b38-4fcc-a7cc-d191298bb47b phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:deb2404c-ea5b-4476-b9c9-8c6dfc4da3cd phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:328030dd-d28a-49d8-87c1-f53846f89fd2 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:edd6a7ae-8dd4-481a-9ebd-af1d48405cb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76a4f69b-8250-4ff3-bd51-765aba8246b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15a02253-f708-49e5-b3d2-95267a4dc5be phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bbc7509-80d2-4b65-9446-f94aca5a94e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9794e019-c128-4dfa-85d1-34b772776633 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84f4ef96-e146-4538-9959-a3a248307bf7 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9531731-6c28-4d86-8dad-4361b8a5ed87 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce32b76a-8214-4341-ac07-01b73b200ef4 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:053f500e-7058-4f3d-a393-f1f879406b92 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ede00718-edf2-43ac-b49a-edefd299201e phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddc1b503-7d4b-4ebe-b1aa-17cda140ae67 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:461f7c61-3c5c-4232-8d84-9e53a6a6ef06 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45e0516a-6de5-4933-9950-3a8676901d3b phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b5d6e14-5bbc-4c72-9ba1-df6c73cef86b phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93c8a62e-5173-48c1-bd8e-12c4c074468c phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:927059e3-ee6e-4d99-a813-c966c73e1c87 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ece98758-bef4-43ca-8367-bce278fbc74f phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:784d54f9-8e28-449f-aefc-94bee3ce4fc1 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9233d647-c810-4737-ad6d-681c4b931cdb phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf6e4afc-6371-480a-8246-cbc7adcea6a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46bebddc-6c7e-4caf-9498-cfebdd00453b phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:831c83eb-2cb5-4231-9eaf-71926263b0e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a37e90da-1424-4092-9e51-2bbd7fde1dc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73c77f5e-cf31-4123-863a-b871c277fd83 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5d1d28e-83b9-445f-b538-e8716e323ef6 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9cfc747-0c9b-4d49-a17a-6494a4dfcad8 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41e03231-2c82-4d86-a66a-10b1ab04983e phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f568ce59-c6f1-4bf6-847e-e1257c9b9429 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6be5d47f-09ac-448e-aa14-817ec1310521 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d41ac4e9-abe2-40ce-9db9-24c9609e0860 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e820d05-2885-442b-8fd2-fc0e6ef3bad3 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d99c93f-7477-4bbf-97c8-a1de90602d70 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81a5ac84-c1bc-4275-9e6a-084ec746f57c phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8acb9b6-2666-415f-a167-93fa776d59e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2742706-47c3-4ad9-b8b6-9d4b54270a94 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:230b2279-8ecb-4df5-a4c9-a2382c353580 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c9e4220-eaaa-4559-bbab-8ade1a76cd4e phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0db3ab60-e1d7-4aa4-84f6-ded188b4c863 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46921c78-dfc2-40cd-b1b2-381ab5cd2128 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28684193-c4e4-4f06-baf0-9f3559c094b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0e8ed6c-a422-47de-ace6-c8ade50662b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6cb4cbb2-afec-4162-bdba-f3c33d707245 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c567684-6158-40e4-8ba4-cf0b414e4c85 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93daaa70-326c-4ac7-83b3-fe12ba2f06d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:faccefb6-4fb6-44d4-8885-c8ea26148dc3 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ede1af00-7229-4c98-80aa-5bd533a6a547 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24b6e4b2-91f5-4a88-9d3a-0745111bfe18 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5bf099e3-b4df-4a11-a972-139e4aa84ade phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14e516c1-3fc5-4300-b254-c34a612cb019 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2a9f7ec-461f-4c0b-bb7b-4ac2ea96ec44 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc3c6471-6757-4325-b154-70a2e36fda27 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e49bd7ca-0340-475e-b991-2152d497b323 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eaaa398a-e6d4-444e-9db4-8ea5dbdc0cd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe979747-c451-45d8-93bc-e6ecd0422e78 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:121a5682-30ca-4474-97df-4291e2f50907 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:045a7f83-d03d-4db8-a451-c3e394a85143 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:787844ca-8279-41a1-a8f8-536b0fa861f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:771a4ed6-4fd3-4757-8d2c-97aaf54c7718 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b327b689-bfa2-4e53-8e88-839bb50fc4e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ba3abcd-1a54-4cc0-9fa9-439f87222b81 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5a829e6-5f6f-4dbf-b8d3-afaa85c3a2a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cdf19c7b-cc39-4441-a50f-36e5e7bd79ba phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ff2a685-634d-4312-8a9e-d5fa420fd712 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6bea8a6f-7a1a-47bf-baff-fc8877b49441 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31893870-6395-49b5-ad44-0459630db4f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:572ba6af-95ed-45ab-9b02-f678144417d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c41a494-a296-4781-8aca-4dc47a81e02d phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1da08ec7-6e68-4c5a-9340-0e1e661d670d phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b342dbea-380b-4504-be24-030f2a4ddfe0 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a01a5d9-6889-46c7-ae6b-d188cadcf62e phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f89fca44-c09a-47e6-aabd-eeffc9826188 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3732d479-278a-4f09-a812-8af4a88e3034 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa33d485-babd-4200-8da3-842d9fecfe7f phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c426677a-eb25-40c0-afd5-da1c24c95ee4 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1610bd2e-953f-454c-8f1e-a24a115b808a phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64cbf72f-ce9d-47a8-9530-0ddd3c2f5d30 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7465138-cb52-443e-9117-c84904af6b41 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:136d5029-98ad-4aae-b755-42b198a1cac3 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5a23f69-94cc-4e56-8bbb-7b1b9c32faf5 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecc15633-c3e0-40c6-8107-61535b139593 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:361ebcda-2d10-4196-b54b-e61eb8e3b153 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08867158-2057-480c-a011-637805de428a phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c75abd4-1184-4b5a-a05d-1c7624607c05 phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c5badec-dfd4-4d30-a949-38be52c2e0bf phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e46dc7a-5947-477a-b3af-faa6fd376c1a phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:556ffa94-c713-4b62-a5f8-c7070725795d phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:2653f282-0c53-4c74-920a-0dd81d01393d phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:38991538 uuid:f7558323-010d-4b40-8bff-9a77fa9a0960 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:38991538 uuid:ee11de65-1353-45f1-885d-01142ce759e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1d2ba1f9-eb3e-4f55-8d43-ab0d4b50e9d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a73efce6-460a-4da0-b82b-6d5db599b9f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:42616001-5de6-4576-9b4f-3fb6c068b95b phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:129fae00-9129-469a-91f9-aed5c6187964 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2c03600e-701f-41b4-b9dc-e7695a843d63 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:36a2ce08-2f03-4b93-bca4-8e5355768170 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9ddd8c7b-6774-4a35-bc5e-56dce3b080f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:46cfb23d-811e-40d7-80b1-1a6a168a403d phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d7ba9c1c-728d-4f98-818a-250d0577b6c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:18a96aa5-de11-4277-8a39-08d78b8dd0a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0f2244a2-dca2-4e2e-9bca-fb0953905e47 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:31c129f8-bf60-4582-9226-2b444a9dc3ad phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2ce31ec4-09ba-405a-a8c4-32df7c3c209d phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4cc14562-41d0-457b-99b0-a0968db7f7c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dd63efd0-8d85-4369-aa54-7742e0211c12 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69f8bcb7-58d4-452c-acd8-c64b7b7270e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ef1a1e4-d6c1-4b31-bd0e-e64c75ec476f phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8590af70-34ab-4c56-8f7e-657c5e0e6ba7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fef28100-a495-4520-883a-9892f38a1488 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee38156c-a1fb-4f89-a4b2-574b66f54a98 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a64f5e6-2bf0-48b1-b169-45b426706d50 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5210bc4-e666-43a0-9b89-47cdc507a8dc phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5de073b2-5cd3-45b8-be26-c0b880db17cf phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e398b719-52e6-424b-8f8c-06c2935a81b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04792046-4b86-460f-8d3a-71dcfdbaaf64 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d466291-ee07-42ab-aa5d-6d3e32bb940f phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9d54321-86a9-427e-901f-7760a2694449 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c93d58a-3f9a-4da0-b826-78b751b2d6f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b650e954-911e-44f2-a18e-fc70abdef581 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:904d8ff7-783d-4c17-a99c-e1927a69fb4a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4709346-156d-4d0b-a6f2-d2f9ba654bb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49a425b2-aecd-4f2c-8816-da2d1001aabb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c9dc514e-6509-40c2-84f3-24320d486ff9 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53e0ff6e-8d60-46f7-a25f-dae0b0f2002a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6a98389-0dc0-44d9-aa45-b76d2c6c0756 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8dadb9b-9b6c-4f97-98f0-fcfc1bac413a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24302ec5-ddfb-4176-a7f3-8143400008fc phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37d7013a-3ff1-4812-8b29-129e4fefe894 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d483731b-7f30-42e6-a929-eac539cddb10 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:503ce400-42ca-455d-8ae7-0da09919e3cb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72cf4422-d5fd-4559-a428-caf00361efca phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fcb431c2-c075-452c-a37a-f20736a87a51 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:886b1710-1d80-4440-85a2-70a6000669ce phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47589d69-7c0b-4066-8d07-b3953e38de72 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:284919e8-8890-4a3f-a86c-50baa5faf282 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e18af9e0-6fee-42d3-9ece-7a8267c68690 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b51e8828-2523-4415-a677-ffea3ac5c942 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94152141-9367-4512-b5fa-2bdd3695f6a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59fb0653-631a-4afc-b9b9-cd7271bbf135 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d7c9483-5317-42a5-a3c2-96a16f1cd358 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3bdd43c6-f7a4-4313-8a41-3151e4b537ed phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afffb698-8d77-469f-80b8-567df492785c phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f00421bd-cd1c-4808-a169-ad4bb6934112 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5b9bdcb-56a8-4d86-b93b-226971727ff9 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ffde9b2-293c-4888-85f8-80ecea032262 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac04b96c-473a-40dc-bd93-e8b7e33a84eb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:346ed2a2-45a6-4511-a55f-de3007c2ebb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a596df52-09f8-4a9a-a8e2-6eec51aa2b38 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8496cabc-fe22-47e9-ac3d-3436302215f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dc93902-f4cf-4ceb-8a69-7cf9a9b869b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df296b66-9fb9-40d4-a22e-6e5ab5aa6a90 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab7f1082-e58c-4e80-b8e4-16f6235ec06e phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac657826-6ca3-44b6-9012-551db5f0e8a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c6e45b5-7bf6-4bb4-b248-5af58e8bbf14 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:720028ab-0025-4099-8196-ea5d88d56d7b phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f9c0b28-b6d2-494f-8d8c-2f4ed0b47652 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b857ef9-5f1b-484a-a854-88084bbba0c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb17ae7a-062b-4729-acb5-e292b54a1766 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0d3ad1b-acaf-48e0-b6a3-04e8428e980e phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e93c6f2-d116-4981-be5c-01972539ca5f phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3dc02d1-9fc6-4dc1-9753-ca6a7c8e074f phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d4bd4ec-5a61-432f-91af-9f5b21f6d2ab phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce64ebb7-f37d-49eb-8beb-9e40948c1fd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:834d468a-3082-46ed-9313-d917609a0ca1 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63de268f-127e-47cb-9bc4-aa38fc6c1130 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de3da375-8716-4706-a93b-ca7187ac90eb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:21b0c7cc-c3ad-42be-8cf1-7825077fcd42 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42295c21-35e1-4636-a7bd-88dc4bf1e330 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d169dc0c-4c15-4ac7-aa4e-8be84158e8cd phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8447d9c-cd71-4b35-8440-c151f4181d2a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14dec123-daf2-49fc-b2e0-d4b5670c09b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07115b2e-7710-465a-9610-7a3746260039 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7ce3bd7-a960-4ea7-995a-5749e91817e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce3f48ab-3c5f-4cda-a311-c83c384a900b phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d153117-31cd-469a-ab7f-df5aa7982a43 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e5a234a-e941-4ea3-9278-c1097082a35b phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cce2363c-e7e6-4812-b145-760ad3a09cca phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da40bc56-94bd-4e05-802c-a144a170a9ab phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef30bdb8-a931-4bcd-8c14-7d42580384ec phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0a13471-8dd8-45f6-a413-29753b775f6e phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5ea7071-0178-4763-b438-5e29eb56f071 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6276a275-a954-494f-8834-a27475ccbd84 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a14a0d7f-51e8-407d-a55a-6285ba838b1d phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2990f2b3-229a-4160-8ff7-77c3700305f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68ea7b15-b1d5-438b-bd69-686c727ff69d phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eeb1f983-fd9e-4719-aa68-d7768c43b154 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab990905-04b0-433d-af22-1dfd4a9e82fd phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37f98901-4a35-4d27-97c1-227b852ca1fb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81659ed7-e78a-4795-b7ac-3cb01e5a9365 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80f74c0e-92cb-4c17-b2e9-b02a8da3c79c phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36ac8bd2-7b08-4829-af3a-5a1bfa6ba0c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d50b8df4-3423-4dd6-bebd-10ea6204788b phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee172f3d-6785-4571-b370-3698fc785884 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25e166cb-fbb9-4f5d-802b-df4c0a5b7761 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1ccad74-8a40-4c24-a68e-46268e504919 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5553262-8342-45cb-906d-ea1b2e835ace phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da46bff5-db60-46fd-89b4-566a9ea7551c phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e9c771a-68b2-48ae-9fd8-09a75c67bcb1 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d10c6f70-a43c-49e1-8fe8-42f94f752988 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:992571e4-855b-47ea-bc41-9a52d29b3d70 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78209e2c-1671-4372-81c3-0c23f890c024 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56907306-64f8-498c-8e6e-30a4c078b76a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70ece144-383f-499e-8348-06fe38f4cc3e phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62ad47f0-1b7b-4946-b518-18be11679c37 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18c29876-8783-4501-b15d-7ae9d455a6be phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97fb8d55-f633-4275-bd6f-e57653bd1dcb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48fe8dfa-73bf-44a9-88f7-64bcfd4df1f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:465c8418-196d-4d88-b21e-95bdf10c80b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a77136d8-a4d1-40a8-b7d6-2c7124cb6384 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59c56500-9b96-42af-8ce7-38473260faec phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db090b06-86a6-40f5-b457-af54297a4fbe phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10c20bd9-e9db-4919-96ee-fad6aefbbfe7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73af0c70-1e8f-4704-9427-8ef426db224f phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94905ad8-09d5-40b1-8a54-c16a5da0f90e phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37038477-11a8-41a0-8876-1a39540d565c phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b118e3b-28c5-4267-9322-124589431e5e phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b74b31dc-0307-4c71-bb0d-7a94d36b3ae7 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:457c7b8f-30b9-4260-8caf-bcaf8deb0734 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4cf4311-b4d7-4096-b14f-64097e71095a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77ca4457-7d5c-4c24-b849-7980ed34fdfa phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d35101fa-808b-46fa-98d3-e91d0744a267 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec1538cd-60d1-42ae-aefc-d333379093ed phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81476645-d379-4205-b3d6-0ff806035839 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0ad1d27-b311-4024-9c55-7ba0ef662653 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:295d0b48-24dd-470c-b0f9-be393be866d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ead427c-6732-487f-8790-bdb7822d24a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a25c6d0-8c58-4354-a39c-d6aba01a4f5a phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90884ebd-dd50-4e9c-9f31-058f86523bdb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc7beb03-1265-42a3-82c5-7201dc80a470 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14bad65e-aeb7-4b89-955d-fef7770e57a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4023ab1-d59f-4a36-bd7c-67b289686b30 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:565a7d14-fb50-4035-ba83-94fbb11d1efb phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62490a2e-3ea5-4efc-9f7d-802de16be2d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1a8f624-6a8b-4aa0-b401-c6cab302e7de phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:714752e1-6eb7-4b58-873d-9916f93976db phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abcebcb6-e1ec-4580-97d8-aa8dc7efb288 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e53c752-b85e-457a-8ec7-e69603a80324 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b474227-adb1-4584-aef9-105df1d4d6a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32668292-0be9-43b0-80b6-8700beee0f14 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:142d37fe-a7a2-4a73-889e-16ba91e83011 phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:4c5448ca-bf14-48c8-9312-04af7e79d98d phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:c031f907-8b50-40f5-a247-a17af8c78845 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e4388273-a844-46c3-b0e3-189b7d443169 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2a408ca9-4e61-454a-b1da-67e6ba232d1f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f1d426db-d519-4b89-91ed-5068d505958f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:84913927-9ea6-4404-83c2-80926366aab2 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a2581987-9724-44b4-8007-0278ac614bf4 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a9016349-0b25-4df1-8283-df751556d8b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1ab6695a-5837-4a0d-b63c-d8805d089403 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8c16bc79-8a77-4e46-9260-4849abb4c2b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:88eced39-7863-4d43-871a-875df1dc48f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e2ffb3cc-1c5b-436d-82ef-76950fa6332f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:922c82e1-b265-4857-acae-0909f1c3264f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ddb4b1e9-577a-4c9e-a345-e6369269f658 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d4a45f5f-299a-41ee-81b9-50c74dd9321f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b1ffaace-be97-4773-98c9-0f18c41f0d35 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:823c40fd-f1b6-47cb-94cb-b002cd86179c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f07928ca-e6b4-49fc-b7a5-e4cbb8197f8b phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:523c733a-7250-49a0-953b-a4b8a80ab746 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d952a0e-c617-4248-b842-2b3eed2974c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02eef4d2-33ce-40e9-803b-6bffaaad7146 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e24558c-2ed4-4b5e-a336-e7789c1ac54f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4bf5cce-c179-4008-975c-9413906a8da0 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:515e23da-14cc-4355-872d-4ddd99989de0 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d00ee0bd-1b4c-4185-a05e-2c6bb774d22f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5fc6f17-1ec1-4848-ad26-18f5d226acb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d056d04-d4aa-4064-b63b-c6e1aa1be29f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5aa15b18-c15a-421e-9f74-ae8e0018d7ad phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6976e8e7-2b99-4798-afe4-ecccbce82e4f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f924a113-015d-4199-a609-33b51d6fe242 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9629b19-8f93-4008-baac-dbf602dad191 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4995113-16a6-44cd-a0d7-9fdecd4e7db0 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc4c4529-6483-4cfc-bd13-caaf6c17fb8d phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e18fa423-2137-41d2-ad05-e58eb10e5567 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b3bb668-1d95-4b59-a819-80b2b7f64eda phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75f2230f-a808-4912-8164-8763ed99e18a phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d1beded-095b-4366-8d45-47d1bc6c1efc phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ef4aa6d-2ba4-4791-bf75-894bdcd07c20 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab99a792-706d-42b7-a801-3a63c78d68bf phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4be6814b-d7ea-45e1-86fe-e59840a0ec13 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c959048b-9a62-4822-b251-45b9a86ca0c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:398dca24-9a78-4f69-b1af-471bd7ad7441 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f5bb865-7680-4010-8ce3-74af8906212a phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb80831a-12c2-44c4-9bf4-44b5f0866836 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90570e75-904e-4fd6-aa68-2248ae27e8e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7eeec510-e784-4ab5-8917-6dc34b12eda5 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9351f318-4ad3-40a6-a9d3-a21ea2e22ce6 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b35ca92-ed50-465c-b9ea-7daee64851ca phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2137de34-b04d-49d5-a7f3-45939325d6ca phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f3c700b-5084-45bb-97df-8ddd80dbefcd phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7af62f8-5270-4be5-9fc1-2ea91cf17273 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b2e7aea-2926-4116-8f61-c9fdb89862c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78f496b1-36d7-47e8-82b2-b7cd2c209bb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba23542b-bc49-4e71-8f28-a153e952fb55 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62ddab49-43f8-49cf-8c33-2e771efcbb88 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f3a726c-cbbd-4ee0-baad-50d781eedc74 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00a81285-9939-4eb8-a927-590f3c50131c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee87076a-cbf6-4641-a42c-32187f096d77 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a02d3275-942d-489f-9000-ad352f938055 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3bded23-735b-457c-92e8-984507348591 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:829c4d4d-f0b0-4c11-8368-2b6411233cb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af19eee2-5866-4a0a-8d5f-113413aef2c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67875800-c91b-43b2-823b-90c630dcbf34 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:740652cb-23d3-4bc9-8291-9a8ac7517c1a phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35086cd7-da4b-4883-982d-15450d6a9d3b phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2478087-4e0a-43d0-9b29-85302dc7ae21 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3370b13-5516-42ae-bb8d-fea83a3f8394 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e9cb300-5eb3-4fa0-ab84-057dd3f97c76 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:205c0712-0ff3-422f-8dba-ea86f271b63e phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e3ad384-bb0e-4999-b7e7-c15598e4064a phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84408214-3dcd-4176-8983-67a2d57c6c39 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eee0ed74-7437-484e-96be-34e391647b59 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a297ed5-4e1a-47e5-a15a-298e34e4747f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99278d52-b73e-4331-9a64-ea7eead09362 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ce68481-e6e0-46c5-a394-d0f4a9808934 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07828587-52aa-4669-a7f2-8ddf6735e11e phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:580ba133-bb7a-4a62-ad65-33842a7e0e7c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ede3c56d-b019-4b25-bd48-bcaae8fe8efa phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a879de1a-f278-46e1-af14-239af65ab702 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c15f44d5-5dea-429d-9c36-c3fc36367681 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12a49089-2012-45af-a643-5d549b2bf3ad phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:589ca65d-c5c2-4ed6-bea0-dd4c04840eea phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3aaa59d-71ff-44e5-8521-de5cd083efcd phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85a17d7d-8108-4826-a159-f6625f1fb166 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5acdc0e4-3b55-4f52-805f-d12a6df130e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95d99605-99c8-424e-bc1a-3f42106f4018 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69c2f1c5-7d64-48b7-a3bd-12d527f8aee6 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b193d1a-f85e-4418-9197-bb68099d2235 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33eb4d1f-208a-489d-85db-d61d1bdb9fb0 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1378c012-244e-447e-a7b0-216523b08595 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85a6741a-b04c-448d-a3cd-6ff5d1313c7b phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d08449c-b10f-4db7-abaa-dbee9fbb5347 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d763947-aead-4e7b-9da8-851385a7ffa4 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e39c1d09-1896-4be9-9501-a357c310b69b phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e46f852-e74a-4d76-aaff-e3a1c9c6a0e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af54449f-82a4-4cce-bfb0-915d3d0e91a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1468243d-8d3c-478f-a87a-087ad764dce2 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6957f0d7-e625-4a28-87f0-0a52305d57fc phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fbc4265-e6ec-4000-878c-40861d591cca phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ec0f175-d25c-4f32-a64b-45d9d58bfe32 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8be3bc9-854d-4d7a-b58f-3d0a662299e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc90d1ec-a9a6-4a45-8250-6bef769680c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d99d783-fc91-425a-a55e-2233847a25ad phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:037ed60a-e4e1-41c3-8695-10bf58ce391c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20ad0e1b-adae-4d46-b878-4b4e97e677de phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dc40fa8-fa1b-4f26-aef6-018bb93dc9c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d9a7ec6-7cd3-40b0-8d76-8818de62b363 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ebf19e3-86f0-4937-a3fb-69f9f5a04c4a phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:860718df-dacb-44d2-8f4a-03adfa4620d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7fb64a9f-b129-4f1f-8757-8cf100297e89 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bee41999-fe44-455b-a9dd-71f784786741 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f26c8ea9-f156-4dcf-8380-e1e6e27d3daa phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20bf6baa-4227-4139-bd56-6310e549c729 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3cbeff5-4071-46e2-a5ee-de151c5cf53c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2015818-fb60-481b-9e4d-709965c7ff6e phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09c691ae-2cf2-4e91-97c9-f5df430cce34 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5b885fa-5f47-4563-95fb-4e92a0489362 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da338fd6-af59-433d-93a8-04bc85ff5e15 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13bff6d5-152f-41f4-b3d5-45392746b3ac phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3ebaa4b-230a-4ef6-bf22-06d17499f56e phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b706bfb4-fd8c-48ad-82b1-b0309f3cc70a phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:831ab538-6a70-4aca-b398-a8eb0595ec66 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:320959a8-3267-48fa-b558-7d5d8a41c5f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbc674d8-8f44-41f1-b058-e7db8415a3e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0317d177-f217-47db-95ee-7cf2f69b541d phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c758030-4fc3-48e9-bc4a-2fdcbf87d26c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0952d3f-c021-4816-ae23-7a963c12c733 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce6f0656-1fc3-430c-a15c-cef4c3e19441 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3424504-285c-4a96-9925-aafec51190ad phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f599cc7-d6b4-47b3-85b9-bfc02f73104f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86f5c0f0-fc59-4da7-a052-efb566ec1bff phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:348c88bf-e60d-4a21-94a8-1c66a320be68 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a8d5922-737f-42bc-bd82-c7522434fb4f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8129407e-601c-433f-8575-c0871cccee53 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37c242b2-c8f4-41be-bad4-0b6cfafaa5c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9095184-e73a-4092-be4b-532715cceb88 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86b96929-ecee-4327-8b07-b373ab9752b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61451670-aaac-4483-a46d-10ae9f39d5cf phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:161ed096-8927-4c88-84e0-5127d5e9b8a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce492b78-4e1f-4458-a6b0-509016a16710 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36d49e3c-19a6-4e83-8ed3-be181a294b51 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de0731d2-b304-42aa-861b-10b62b7d082f phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f08fa16-4b29-4b84-86e5-faa1473bc6ce phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2dff6c2-4a5f-414f-942e-74bf9acd2aee phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aea43167-3f37-4f0b-8d6d-f0a8417c560d phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5a69acf-632d-4ccb-85dd-50ce98d78b04 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b18339b8-7028-4aee-8c4c-bba66baee177 phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:79d45532-a04b-4895-9d76-f6bbfa02285c phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:c4282d9a-342c-4257-8350-a79cfa09a8c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:bb982de4-7774-48ba-9eb5-d6de6b132b09 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1e1e7d8f-398b-4671-a491-2d23a6ba83f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9eeacf77-ff4a-486d-ade6-b80b69e3cefb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:751ef6de-9220-4dc9-ad32-f3258c7032ce phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dd3c6fde-a0f0-46d1-b1b6-ebaa6809cf44 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:60830f78-54fa-4d6d-aeb6-150ea43ff390 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6c51095e-abbf-4145-b6f0-6b2aa193c9ff phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:988741e3-9f94-40ac-b006-4b926091c462 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2671e0b2-3f94-4004-9b88-e77b5c3ed090 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e1d52e5a-257f-4769-bf73-cfe660b47fb0 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3c4b65d1-acb3-4a6f-8bf6-97e5fefbb6c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a44f6fa3-7097-4348-bd49-fa8ad9fa9c79 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b41ca317-a474-4dda-87cd-286c392ad9df phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:429d7e84-7c51-4854-8635-72ec6bdae0aa phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0a87e62b-1481-4d6e-a483-bc2442a142a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9fdcc9b4-d5a3-482a-aa16-9f3d18f4e29f phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1a32d1ce-b1e3-4cd4-8bcb-c5afb1f0d082 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4f2475bd-8380-4df3-92ef-ab5dda09daab phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b0da6191-3bfc-4f8e-8763-df196b13c525 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:70784479-39c6-481d-a786-6e46d0f7222c phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e24f3c07-f6af-47bf-a747-b064d81f7ede phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:01ccfc70-c9bb-4628-bc1f-8ce5edfac50c phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc310f43-543e-43aa-967d-10bcde69d8a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b9d6983-df67-4a76-abe7-ea53ff2afbff phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4959928b-2f39-4107-b321-524517a09e8f phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aaec4d8f-d6c7-4513-a287-9e0305be71c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3736d0bc-71e4-4ad0-9a43-fe67ef0488bb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53a56a75-818e-4d99-8bea-40889d1585de phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7e12246-7748-4650-b454-b76cc223f098 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0781b74e-6b2e-4f0c-91b7-13b0481d5c5a phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4dbf0f6a-cdd3-4b35-a022-bab1cd1c38d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d789e49c-f1ec-4791-a833-190f2749a6a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53f4d32c-d28e-4574-b938-76da4babbefb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2079ff02-a8b8-4df3-b91e-bf1e91bf4057 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f80cb88e-a2e0-43ba-a8b7-370a57d7d860 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc219a80-45d2-4844-b54c-72c0ee05e0e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:684382d2-9ddf-46ca-aecb-1a6d75247c67 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c090dc50-166f-40f1-a96a-343b9ab8fad8 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cbf0763-fe13-4d61-98ef-269867abb07a phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82cc3473-6f8a-49b6-bc77-2da8ebb17ff3 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6fc7c4a3-4e71-446b-ba12-a33abecc45e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36a0e1c1-3e29-4a40-a565-c951799b5142 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e5bba27-fa36-4eaf-87e8-a6226d9c4609 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22544103-a0ca-4a4a-a43f-1a14372a39e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5a22a15-aa29-4eab-9ae3-8d9350e70f61 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f18f2d24-c20d-4fb9-af73-f01bd560d144 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c11e6e8a-17a3-44b7-b4b5-62e9caeff508 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a085b3c0-df51-4856-bf35-98be50dc5185 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04593298-2dbb-4841-a602-639b4e9123b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e444fc96-fe30-4581-b8a0-5824292467ac phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6f963f7-89b7-494f-8657-6fad403b83ef phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70bb985c-b04a-46bc-8fcd-1953fa1e6abc phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2e731b1-56be-45f4-be5a-6d37c1a82247 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d908d19c-a6a4-49a5-b320-1744c247d7dc phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1bc74d4-7156-4a60-bf9d-a1fbc1d7c788 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a367968-0d16-4505-a88e-f3143dff0355 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7688ef8d-b644-42cb-99da-e6ea157e3691 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14ba6d80-6516-412e-8776-90c3a49133eb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c147c7bb-3c85-4f18-9d81-d9ee82a67b02 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2cd10f4-0bed-4699-b245-b9ce69b3641c phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9612f8cc-2025-4869-99f8-6fccb8a8f62b phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e89b657-149a-4710-b384-9c98a9395ba1 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2371ede-f24e-4cb4-bc8a-9190579e441b phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48dfc0cf-1a74-4fcd-9190-c1f2155fbb1b phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62644a8b-0aaf-4673-a459-d5a64ad261ed phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86b12712-fccb-4eb9-b60f-da507db8c552 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9b31a4f-6b83-4b73-a8d0-7103ef7d5dcb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10e3a494-9375-4c60-9033-f989ff646d88 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a77717b-243d-4c1b-b118-044c86bbd406 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5c8ab99-1f75-4775-99ae-6cdc468e1f08 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1014e231-1428-4ac5-9160-4734d1a01d1d phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba2d43bf-669f-42e7-ae58-17b8aa989170 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ed7a8d6-86d0-42cb-aa53-8dd8ef57df58 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0dbf820-96b5-4803-a1c8-0865d7e19ba1 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0292ef66-7483-4776-aadc-b7f9aa95432e phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac2df729-b71c-427e-ae86-3a49b6fb9b59 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0125371a-2c03-4026-8d06-91c52aa30532 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e8051b2-4618-4afa-b8db-a4f1f45a0f86 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8167b464-1481-4974-a433-3147f16a9751 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ca83bff-91aa-443d-8ae3-9e50cece05b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14c270d0-e78b-4af4-b855-3acba8adc254 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f13dd8b-e3d5-4eb4-bb23-7d241e0d3ab2 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8abecdd-b210-4373-86a2-bef1be652726 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c177758-7b1b-42a0-b0e3-5dc09cd4f36b phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4b8c6ba-39f3-4d9c-a10b-31abdb7f5dcd phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72129ef5-e281-4fb9-ae28-06657425e732 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a75c34c1-e3c1-4f82-9a16-7f15dbf77020 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df81f397-8348-486a-87bb-a530cda7e456 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:676cfcae-6017-4fdd-b519-84125c1e20f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15a3da87-e422-45a1-815c-b6f67d834e0c phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f087673-d216-4ecf-aa37-b3881910b57a phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9244efb1-096b-4d56-82b6-39a1fc91d601 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98e81b73-f228-4a1b-9485-f09bccabb175 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5f5b4e5-0292-465f-b763-3e55a8c394ad phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d24a3166-8e3e-4326-805c-d4d6216240fa phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:361f35cb-875a-4f0d-8dae-1ac4f138a386 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:620ac2bf-0fec-4053-8c99-9c98f033c003 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abf088ee-ac02-4fb7-a031-a76ce662af47 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2aa31176-c67e-41f4-9015-1480bcf4307f phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79f96677-8d34-4699-818a-38e3c34b53a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14841e87-2a4f-426c-b93e-a2f9969df4eb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:514f9328-28cb-423b-8d85-2712a72d7366 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e44bfe2-3147-451c-a131-b63096c6fd80 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38520a8b-a408-4fc0-ad86-850122f9495a phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1482f8ca-f4f8-4fae-a4b6-01cc2704b819 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0cc675c-5531-48ca-9f1c-90cf6e9b2fd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc398be4-6847-4ae5-a242-33c82c1bb3aa phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bdf297e-fcb3-4d5f-bb4c-69478dd0487d phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e576b505-db65-4108-903b-da58d7f68959 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:028bc47d-5518-4af5-b899-e47ccae515a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c83a84a-3ad0-4a04-9012-0577758f7123 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ea0218c-e731-441e-855a-bf02ca2b51ec phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7d3e9e6-060c-4e93-b2ce-23a1aec871c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8d5a536-18bc-4c28-b82c-d76763686843 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de6f0450-6bcd-4c9e-a5d7-0a89a2f78761 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca7149ec-5d21-4a19-b256-34bde6538c53 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dc9d573-0185-4afb-aeaa-6ad0267d8163 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ea48576-14e1-4f0a-8f82-ec64b99c5656 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7460f8a-e9e3-4898-a357-ca14a1180139 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e307b7e-7dfa-4c06-a43d-01ad1447969d phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e4eb6dd-df60-41ae-a2fa-e6151739acd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53788556-0d60-4cd2-9e85-ee15e2b69ada phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8641e2a7-9f81-4d77-891d-832b7de0be45 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37a87589-afbf-4094-aa7d-174b8cc64665 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2dcb1dd7-28eb-4328-9fc2-f7ad7cda9595 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:687ba305-36f6-42fa-a1d3-d539300be066 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31381b51-bd91-4d5c-a0bc-56273e2feb87 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:074e56df-8df5-4020-b582-ef99923424f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:817e8c84-5475-4d0f-aa31-b7b22b21ab6c phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f22e521-5622-4b33-8e9a-35b6d4796d87 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:addca239-b863-4fa1-b471-82f7d85d5606 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80c244dd-f862-4cf4-b50c-238d0ffcf643 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6654ffa7-3a18-436b-a4ee-2145a75a6622 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:641ed8ec-7a89-43eb-beef-203f70f5194a phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35971f1b-0acf-4f5a-a6ef-3fb5169bc5a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f17e9c51-cf42-4454-a3cf-410ad243cf46 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:193630b9-93b0-43ef-b23f-71e94bf9f5b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01932966-1914-4dad-ad1d-18d2c16d30fb phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e406176-57fb-4300-a53a-a7a0641bdf82 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42c5d1ef-a8a4-48f2-a867-080c92daffd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f20f78f0-4b40-4a0e-97a5-3740ff626c68 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bba88929-ad48-4632-aef9-7f48fec8c486 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cfe24a1-907d-4dd4-adb3-775e446d5d62 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2153c1a-befa-4770-a80a-0525627c6209 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3aba50e-8166-4c7b-9356-216e6236fc81 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:669c516a-cb39-4de8-a0fa-376c78341839 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:903f3a00-6f3c-49da-893a-a7ae6c5b02aa phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8aff47fe-fd76-4688-9366-908ae90d2490 phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:12e481af-cf77-4fe5-9f2a-4f9fd09f318d phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:779281d5-9857-40ea-a064-8bb86e9cad1c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38991538 uuid:d2ae71a7-54d8-4b67-a2c2-7abe1a57c922 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:45da3029-58f0-43ff-8650-30981146a2fb phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cc8839b1-37e1-44d3-b84f-99154f75ddd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3d669cff-59c9-4ed1-9774-787de06c1e72 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c038bfad-6036-4596-bca6-7bab8f562690 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:70743391-a4fe-48f1-b272-ff01d67a7853 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9e9f457b-ea47-4444-8804-51aff8167920 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fe06a31c-1851-4ed1-a513-b3a4ea02b7a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dba5d9ae-c0a1-4b87-abf1-ccf0705e0426 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1c1f98e6-dd2e-4917-ab61-dc7c648bccd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2c41d539-eaec-4ec0-92ae-f183907bf46f phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d7504b0d-9c02-4e47-b7ba-18e111176031 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2b4593c9-6b61-4cd2-91e0-6bd1af6714dd phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:106884d0-61d0-4c67-8c85-af8dc2070732 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:57383483-d284-4952-8082-71f881fa9461 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8bc6f776-aba4-45e9-b842-d51bfb86da18 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4b83b7b8-062b-4bcd-a6ac-473f3fb9756a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a42de67f-44c0-462f-9d2b-459cc625410a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:23bbcbfe-0df3-4f28-b99a-f7b34238a02b phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:de9f4a7e-21d4-4a07-9f70-430d973eb9da phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b0ebfee-c957-4e5d-8770-6124f553fda4 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb1b9b33-b503-4454-85b5-b1a3abdac94c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7f32806-8acb-4bbb-9925-543424faa63f phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13ff5d84-f36b-46c3-9a06-6e74c03f8c65 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:187c84f0-7e6e-4ed8-aec3-a33b11bee8b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8aa0ad63-a392-4071-8cb4-a555bc135fd0 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17c972eb-1bdf-4b01-a572-ecc181c1ef70 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb783e61-b7ac-4e1d-b944-7f759972424f phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa0c8b3f-1281-40ef-a1d2-a60d458045ef phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39b026b6-969e-4628-a23d-8ec4360cd2be phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f813da9a-0af7-4d6a-8f49-8dc830293c3f phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9668841-3b16-4f22-919d-ed475abf71d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6de1b5f1-ec1f-4001-9472-b8bf9c2f2604 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1dd1cbb0-2a7f-4f23-aa3e-52620c0d0b38 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0f62cf4-ab0d-4c0d-a9da-a6249377e127 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43ce802f-dc8d-461f-b55f-c2ebc4fbbd37 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d2346e6-a5b0-4ac2-b033-d362f2f4b68e phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:653ffca0-8175-48d7-b8a2-c19be386565c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc2e799c-18b9-4639-8094-7f7e684bc380 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e788040a-d572-4028-a37f-56fd8b8c9c66 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71c6dd33-d31f-473c-8991-f9c8e75fde58 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a127a485-28d4-4f36-94e6-4de654396dfc phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:678381c0-876e-40bf-b8fc-d173a26ced48 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b01a374-c3f6-4caf-b365-78587e32e264 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c8fbf1e-7733-40b4-9271-0b314156c568 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:11575220-6944-4ba8-a86c-30aa597f445c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5f9e7f3-98e4-4803-8bf0-47f3980bd061 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:387fb0de-c331-450a-84bd-19d559b506d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:435c7384-4dec-432a-84fc-2684690da625 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:387ba64c-53c5-48b6-bb8c-757a503bd9da phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8ebf8dc-19f3-46a1-80f2-78e31b05f4af phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9b12733-f8f2-41f0-9f80-a86027c60550 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c2c34e8-9618-458d-98c7-bf57a17540ef phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14f0006e-9a7c-443a-9fbb-94d3854c2aef phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f6542d5-73fb-4514-99c4-a62dda688a8a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83181586-40b8-41e1-bcce-b9fd1858ac1c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1e73fec-a4d7-421d-a157-2ad38e8ea5ff phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c63f5a22-aca7-4ee5-b167-e8d70b618128 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2704fc24-a438-4e13-b0fc-bf6ef2e1999d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5a85b8f-fe0e-4632-bbcf-4ec3c679cb86 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26beb4e6-2b0c-477d-a69c-6e38e3c97295 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5a3b1b6-f73d-4aaa-9d47-c2aa7905898b phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3a6a70b-8e32-422b-8599-0a2a5e2a51c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f01a9f1-f466-41d0-8c2a-dd8abde95402 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4bae7c8-42a8-4ac7-85a8-75fa7ec65764 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a61c8b6-335c-47ae-9ef3-28ccd5223e64 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a22182a4-fba4-4812-b2c0-78e8ca78946a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18c35d63-6fc7-44b1-aec3-42ce8c6017e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab84d4d9-89b1-48fc-b4a0-ed54dcb25dd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1171d0dd-3e1a-4ddb-91e2-f505a7844daa phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf81a850-322d-40f4-80aa-b75d46e621de phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c039dbd4-9da7-41d1-8438-b9f9769f9ca0 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c45faf92-562f-4058-b970-e806453434a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:726d6edc-ffbd-4231-83eb-7a444cc964fb phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1ad322b-5e76-4670-a94f-4c4eb86c9243 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c50ac874-df3c-4fde-8fd9-05f5338e347f phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93c6e9eb-6c7f-4d24-bf57-f3319927ddc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6958f74-648b-4db3-b373-471648e5d270 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f666bb4-0158-4b4f-ae37-b175d933b969 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2bf04800-a112-48a6-9b7f-7d463c8e1f7a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00b04f78-87f7-4379-83f2-908c12a7f3a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:554a54b8-0be9-427b-9462-060ef6feca83 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59db7bde-569c-47f5-a554-8ea5f9dfea38 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ee4280c-6f62-4f18-9c14-f8ae74e3ddc4 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc10e481-f92e-4c96-870e-c29e14d6b531 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2af41eed-56dc-4d66-b7c9-86cd6567891d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da4d8918-6aa0-4ba6-8df1-e30e1499ec07 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9440fd8b-5577-4003-9407-352f36bf0710 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f183d211-2289-49da-86d0-9e3e170e8036 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a37d62a-3110-4e8f-bffd-0cb57a9fcece phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a9cf4d7-1ff0-4ee1-b19a-ec93f5b1c6b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe810bb9-e414-4a32-980c-526c73e58e45 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57df41b9-a86b-402e-898e-31c28e0c82ca phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af08900d-f394-4ced-9b58-75ace8c71d8d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15fab149-b940-4def-acd5-af8ef3895473 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea122432-9b48-43d6-86b8-7023edf88b94 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9ee4671-1c6f-4fb8-b163-ae09b3680291 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4de1d307-f408-4f6f-bf78-bc6dc3397ebf phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5b0903e-19ef-4a9d-bbf4-2e2fb1e7a9b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e18e98c-1ee3-47d5-be39-5bee1a7b0a2f phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2264b2f-eec4-4b9d-b930-963171422295 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b018be6e-1cc1-46fd-ac48-b3491f67c3cf phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f0f3a49-f15c-4afa-8520-a4e000fd4cad phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:209a6b2c-3fb6-4f9d-a050-05b77e817c7c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b198aa4-5ddf-485a-b31a-237899e3f8df phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65360cc9-5bd1-4809-bcaa-00951341f5b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6b32a9c-0ef8-42a3-bc51-c795450aff32 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dddae5e7-35ff-4db4-b672-f51ca5ff5557 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f4b2289-00e0-46f9-ac41-cb3daa918ac3 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27fb1765-9a9c-49f5-bba1-a7cdfb453b41 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f358f410-e8ab-4e03-86c1-42bbee930ae0 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9de699b-b333-466c-a99f-43d82a685639 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca9267f2-0c8e-41cf-96d7-0b97c247a27b phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6661f72d-f619-4af6-9ac2-f2244ffd2a77 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c132b5be-aac1-42ec-827f-6b8e35421ed3 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22f66cf1-fc67-42fe-9cfa-27b20b2cb1f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bf52fd8-37d7-4659-8a61-0a50bc69cc1d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b38f5670-2c76-4671-9146-9dbca35bc9eb phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dac479b3-1655-4a7f-b7f5-b12f294b97b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef16278e-089e-44ae-8500-d6e863df0a0a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfefbce3-7890-430d-b820-ee3e3639696e phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:156514c2-54ee-490d-8919-d8b0be2ccc3c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:576ce736-64a0-40bf-945d-4caa0a21124c phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc7f6f25-c75e-45cd-b892-d5bf71bc9fe5 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c279f5d-d30a-4852-9010-be90994c794d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8d10c29-9a7b-4854-a91f-f1021a1425ac phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb629bf8-c71d-4a12-9da2-d9175fa5d7a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30a2bbec-7b2d-4571-b36c-a2e9f24a3ee1 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c20871f6-c5bd-429e-bf5e-10675dddea5e phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:459ba0d7-ce5e-4fd6-bd73-feff0b026a02 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b3a0cdf-5870-4e56-9308-dd0bb2535a49 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31fca90d-5272-4f92-9075-454639b3cce4 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdf14c42-8e28-4d9f-9e83-b542ce282464 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:733f7c62-3395-48fd-a404-abbb7b08e814 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cb2f01d-96cb-410c-85f7-9197501c0c59 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:161768c6-246a-4e77-9846-ce15d1678c1d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68a54796-9054-4223-93e2-0657461bea5d phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75bc4fa4-fda6-4349-8e68-bf22aae6cb41 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:930ffd66-8c28-4a19-9535-f50709d0a33a phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02ea7338-ed9b-4880-87f6-516d92db9077 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09ce703c-6361-43ee-b7be-1f89f3144255 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd9eed4a-f90f-4480-aa13-5a00380d73ea phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:975f33b3-e9e2-4659-83dd-273a44b5d463 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a75f731-aed7-4e64-9728-ea84384ab4c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9de7e00-68f6-4248-9014-08d10535d6f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb5bfe7f-5c1d-4a6a-98be-26ae493593f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15a89068-fefd-44e9-84b3-b92cc6546641 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4972055-b9d1-43c8-909a-6374ee2f0327 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e739e14a-97b4-4e77-a5e0-d89cce40e3d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:eaab908e-f76b-4ddb-a70d-e52d5457e3bb phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:c0d916e0-c950-4b7d-b0d8-c2d7d420cf49 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:38991538 uuid:477df5a9-9e37-472b-824d-672a50372c8e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8aec31aa-59af-41b9-b5a0-562ddfe1a82c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c8e222ce-6750-4384-a00c-a35a7b34de8b phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cb02294c-1018-427e-8361-1f17bf6be37a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6bdad61b-f4a0-4418-822d-bfe9a086496c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a8b3a6de-f606-4f83-8282-87546ec39e0e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7f1fe522-1350-49e6-993a-4755183892de phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e25197d0-8dac-41bc-8ad8-ef5bad1a571d phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6aa90561-0e20-4174-872c-626c470e9cc4 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e97c7ed4-3fcd-45d7-a892-2f553e7cdc77 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d1e23cca-57dc-468e-9416-3a8abc0d9bcb phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:95d66e8e-d13e-416a-b57f-db631c05ccad phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fca4792a-ee0b-4096-b38a-3f9a9b364286 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:58b78cfa-c6b7-4653-8b8b-7547c326a881 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5bf1c713-85de-45ec-926d-c14e8351ceb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:babfdc47-cd49-48b8-aafb-2bd0c5ea1713 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:84ae51a0-1578-40ce-bace-290aa75b02ce phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:50a99746-d3d2-4617-bcbe-c3c052947011 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0bdafb74-0381-4fd4-9fea-a6861b10b2de phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c7eedb5d-00be-4e16-a182-27631bf5cf38 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a89880a4-52b2-4db8-9ebd-56570a64eb1e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:10584ded-a328-4a5b-a05c-33e344641a15 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a3f8b910-1004-4d77-8070-beba86a10974 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a476a437-dbaa-4308-83e9-206a9c7a8459 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d0b6eef0-7142-4839-899f-f6b68c5af7ea phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6abf4373-bcab-4b95-9041-44a91132427d phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87834e64-a70d-4845-b221-456e0da19078 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:547801a0-6585-405b-ae2d-75e636f477ec phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df7be05e-e631-4b4c-bafb-e21009cf7484 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c550a3b5-a069-4a7c-a8f4-910be5f507a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44d5c3ec-9b00-4d77-9a67-f41a6ce85c2e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68c0ddfa-6702-4ee0-8b48-640321f334e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5abba33c-0a46-4747-b717-28aeaf4342cd phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbe17a49-b649-44cd-9882-17ccbdbc3889 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49c2e945-15b9-410d-8ea4-bc143ffe9546 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02c53271-459c-4aa5-b578-6ae392da2900 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa5cc69c-1668-420d-ab9b-a4cbf32a99ec phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f3f32ff-ad13-4087-b9e7-c9fe639416b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35c5b393-62ca-4f6c-be27-e1d4054bed02 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13a71188-c459-4dc3-a641-501f3d66bde8 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f954448-82d8-4905-a719-e9b1b6bbfb8c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28fa8166-b339-40d8-8193-695cd9287ed1 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a92b7a2-6b2b-4707-add3-647244dff8a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6e7ac79-47e6-4f2e-aa14-af5041806ec7 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:331c88b9-7750-4c34-9a65-f7559066391e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c659f543-0ea7-4efe-8658-71d08e3fe627 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65ab515a-e089-45c9-9d6f-0453c9abe9bf phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6063b58b-14eb-4170-b9f2-f78148aa4db9 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81472d57-9e70-4e39-9e78-d254a22cc410 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15fc67e8-fd85-4a3f-bb72-177e215b652c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30f197e0-ae99-4c60-8d79-3482ba3f813f phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f12e06cd-4a10-4803-aebd-885343e19e44 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c91db672-dc05-4a5b-9313-6a843003ea4b phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:833ba163-0b43-4df0-8a3c-ea908306912d phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5352b41-83fe-423d-9229-74d7fd2c2901 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:367fd50c-0324-4072-90a3-0b1c4797dcd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:383f3a93-8919-4816-a9a4-ca69f2db8261 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d1749ee-822b-486a-bb4b-f0061c15a731 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29d8f86b-59ec-4ce8-871d-8d36ab8827ea phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c6596aa-e953-4b35-9bcf-67335b8cf13f phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83c4bfc3-6e4d-48ea-bc71-30e4b09a1306 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d888f4ed-64e6-4a84-b5dd-da083df346f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d49c0958-6f5c-416c-837d-b54790ae39d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c5913fe-5f82-45e9-81c0-ff2126f7b6dd phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b35b261-b3da-422d-b225-9bc100c60ca8 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17ce6dfb-1c68-419b-a619-63c229006759 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e143914c-4a6a-4d8a-a5be-b4b047ec8b3a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51a33962-6133-4131-8ac6-57e8a335e4c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ad8588b-1790-4076-984f-d820e9cb522e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d9db4e5-220f-4b5e-82fa-7e4e1d362bac phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15b7483e-cd82-4e36-bdfc-b905497955a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4744f038-70a9-4db9-a39e-e54af254d037 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecae5d2e-9ed8-426d-abd4-40a0ed43f26d phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b0d75ee-bc47-4feb-a051-b73e7ffd1e13 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89b7aa65-674e-4b4c-ac80-a737dc17317b phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae634578-cfa3-45a1-a781-22b863200e08 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4a74129-ed6d-4cfc-b188-b4c2ccf592d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7ca4317-7ead-48f4-afdb-fa378e123f41 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b359b21-3df8-40d2-9730-c09b842b16a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16173319-6124-4e31-ae3e-27fe82bbffb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4faad469-38af-4043-bcdc-82f3939114c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c7566bd-bcd8-4c56-b60a-36dd7cd67ff5 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:865a7dbf-6f2c-4595-b92e-1801642caf7b phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e0dc7de-136c-4273-908a-855994567655 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70cd5512-69a7-42cc-ae9b-771a66014063 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc4aae5b-db8e-4492-95d8-f8b5263af2bf phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7928930-99bf-4f08-bb43-8fe8cc29688e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9aae5199-dee6-4978-954e-95992aa92d2a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c75c4d6-5882-4349-8c79-530e32e21d83 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:876de3ef-5cb6-4cac-889b-0a359e9fd30f phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d160c548-cc68-414a-909f-870c9163e94a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba75051f-91f6-4d70-8fc4-25c797e640ab phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14e8ba31-1cb6-4f7b-a99f-953f4532e7a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41fa4936-24c8-48b2-a5cc-ae4ab5641c67 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d7ba238-5f2e-4d28-b957-f9a4d15bb4a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43aed5dc-280c-4809-8149-104431484fd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da5b8bfb-f91f-435b-b85e-9c5014c36218 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6a91002-73e3-4b7a-b6bf-47b8d8a9c29a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:521013ba-b77d-4997-aa60-9406234b1a6b phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d530185-280e-4a6b-b668-293552edd3c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d962bebe-481e-49a9-94c2-f3d3099f2fc4 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2e21ab3-4d3f-4d88-bcb3-f23887520b0a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1d98fde-b3b8-4fdc-a770-d140be0f2600 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:735c1922-182c-46f9-bd23-8b3d3bd48098 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44d5f0f7-eefa-48e6-8768-ebd858160d28 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:475e4310-0e46-4451-82e6-94f357db43de phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98ca3d98-d109-4d20-b0c7-ae921c6893bf phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a7c550e-1184-4af8-b62f-035aec84ecfc phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e4ca10c-56de-48e5-98a8-263651ff0e23 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1524e097-a8e0-42a1-a00b-d8631588c82e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ebfffd2a-e14d-46b3-aa36-d99ad35bc2dd phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f59a149-42d4-4cf4-9138-5b7e3bcac3af phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d11928fc-f17e-4080-887d-49159d1591de phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:154ab56f-5d4d-464d-b52d-618b4e328062 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dffb4d1d-213e-453f-974b-245eac94055e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ed443a8-9318-4b6a-b86f-afefc7ef37c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cda5e097-f097-4836-a744-f8070cf64e7c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee89c68c-a274-4f2d-b190-213e8fe96fd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a4910d1-dbf1-4eac-9cb8-dfe6e11e239f phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c8a6dcf-219b-4e8a-9d02-0e55abca5034 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83070101-9d78-4384-9347-a6b76362ce7c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ca72513-d2ad-4c88-ac17-e4aebc6d5f14 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a126fa61-a64b-4c12-bd4b-1fe0efaf7ad3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fea480f-b0a6-4925-9184-df6350b736b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82453e99-3798-44e2-aaf9-9b055fa43c6a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb74c722-75c0-4921-af5d-e051cf2dfbb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d249a720-6a5b-4874-b062-d59103b79cc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e26dd98-20d5-4af4-954c-698851e611d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1ca0630-b477-41e9-aea4-df91c1a7e07d phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9ef355f-de44-4fcc-b8c5-a23195bfb19a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cfc1e411-006c-472f-954f-cd4030c51843 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a6b3231-1518-4897-8a78-5ede508215e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a20d0592-92fc-4f0f-b5c4-367865fd2377 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddbe1355-6a09-4f12-aaf5-5a21ef3cd241 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb797eee-73e8-42cf-a246-5ef0f9887adb phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8ca3dc1-e791-49b5-9ff0-9dafe9532012 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:522c038b-0db2-4251-9c41-b489edc98146 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da559c74-94c4-4b76-bd65-b3e2e3992458 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:320fe6cf-febb-4493-b440-79beeeffd71f phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98eb895a-6f4b-4456-bd15-790a16be6583 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c775ebee-c348-446d-ac2d-2b17d9bee899 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f64cb14-d5da-4530-b6f2-bab31c0eaac6 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bb4aceb-8ad1-4df8-aae6-faafcdcecc8a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b34692a-2971-4b79-b036-7b4a848ed355 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8d0dd41-3e78-4dda-9133-88903810239a phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f6dffb2-f47d-417f-b4af-17c588a205d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8c4e471-7c94-4aec-b4a4-73dbcb772b7c phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe379849-063b-4691-9c91-c4b86798c3ff phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a84267c-f458-4e76-ad8b-3247216b134e phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:6d69ff9d-feb9-425d-8aa7-00b31dd4d5ec phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d5b37725-bc8b-49c9-bdd8-02f708c026c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:38991538 uuid:00569092-4375-4657-b000-53355e5df945 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:482bf35a-2c3a-4c02-93d0-9eba8c68d62d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3b3ca9cf-83a8-4383-9a9d-0f24892b1922 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:511e12b4-f8a6-4bf5-8346-b83625940c38 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4fa87554-a4d3-4d14-a822-864a8ec62016 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:60ee13c3-4ed1-42e4-b1df-96458c6a3d45 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:616864ac-1f45-4dbc-9d2c-2e0e6914b53a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb397b8b-eb27-4428-9d9f-51b44a331543 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ac363c8-25c4-4306-862d-e77872fb137a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0bc122a4-4294-4d80-bfe3-bd5be0668de4 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:476a4189-07a7-4ff4-89a2-657226332f97 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1593c918-fbe3-49c7-8de2-37c3884049aa phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f37e56bc-3471-4b7e-bac6-1991e720e9c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78d8ee7c-4d03-4305-86aa-74711b7eff54 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cc109c2-5878-4521-b59c-f480af0788f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3d4c06c-711d-4a89-bf51-010e6229f1b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b416dc79-f2c5-45ba-8f4d-18e9062a3851 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:318a3d9c-8aee-4169-aa63-a54739d9a5f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f17d105-33cc-4d32-9daf-099d7b95316d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3a50ec8-f5d2-4f90-a4ea-8eb306bbe032 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac413bc8-4ffe-43cd-acef-92129e22aa32 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39015480-6364-4b1f-ba7f-7082c28704b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:778cd567-6e2e-4d90-8576-66847cdb5b03 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55e332ea-2ab9-46a7-b310-7ec6fa68149a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10932c73-6457-4272-b5b2-e555f1ebb462 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe070f3f-517c-4185-a12c-eaaec784d284 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd740cbc-2991-4674-8746-38fe0c2f9319 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68f5e1d2-7f62-4abc-9384-9ffebed19176 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4030404d-384f-4f99-acca-70708382aad8 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9849b807-7ee0-4196-9da3-fa0008c2f2a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ce44761-95b6-4af9-8c7c-3d677d0833da phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a936d67e-a250-47da-9168-f054e6f17075 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f7cca21-0670-4e9a-871a-fb3d33c4b76d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78cee1bd-27f2-48bd-b355-cd88fb1587a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ca30223-89f2-423f-b4c4-edb48e2098a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c991fb6d-f220-45f7-b926-db5718c0b24a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c395c901-ca07-4654-9a5d-5d1bf1e6528d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eed603c5-06a6-4b5c-b447-b46b9c7ed9aa phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4697a154-931e-4849-ac66-c43112ba5be6 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2e62cf4-8c0f-43cb-985e-74193efc555d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2268a1fd-f717-44d1-b8b4-b74f1457aa75 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2776ab5c-13e4-44be-8b5a-76610581986a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ffa56fa-f4b2-4627-9837-c434a3a48720 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a51d5566-ea1b-41b1-99e5-527b27e216fa phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd00679c-0b05-4447-9617-dd449f3f470b phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93338761-f652-4f21-abb9-feab316ab149 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46fd8ead-cef4-4d7e-9a02-dffc20037541 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:527479ba-432c-4213-8745-12cc1e1287f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02fc0be6-8e99-468c-976e-aca8a7e34451 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e46ef5ae-702d-4fed-b4bf-01b21fb1079f phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb8d23c4-03da-4a0a-aa73-af239cd27ef6 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:117dc17b-7446-4892-b64c-be4a64950dc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0915ed5d-7165-4d5f-b5e4-e1dee2e2edca phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dab780ab-b2cc-4588-95f2-3b41a6f6f2c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37bf06d7-8827-4562-a897-dfabce8e7a86 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0871a2bb-9449-4a55-8fae-6d1aeebbe3b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9d4cdd4-8b07-4124-8fc5-846e7760c657 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c032c4ac-1d21-4f35-a473-59b02842bc0a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b61190b6-6c81-4b7b-9dc6-43066578d056 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:520172da-d5ef-4c63-a3ce-dc0fd3321410 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7fab751-ed48-443d-99cf-fe15d091ee3b phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ff82f55-16bf-40ba-bcb2-d48a68212371 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f63cf70b-9b61-4e9b-8150-c51a0b475a8e phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:087e4643-1511-4e2a-8507-c546afb0392d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35d87434-affa-48c3-b676-e4f6ac064384 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:faefeaff-0899-489b-b9e1-462d08eeb8b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a95cf85-9e79-4301-9955-5c29d507e497 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64e9268a-c22c-4eaa-890d-ab09fbd7e1e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:709b5aaf-db5d-4d72-b0e4-dd34a1334036 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0c660f3-3f9c-42fa-b1f1-a80f385a0b76 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cffa127-1207-487b-9932-f16a0d243943 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8969c13b-0bb5-4485-aee1-3a6958d8ac9f phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c1054b5-5248-46e6-9748-e6a5e1004a85 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a2dcaff-a1d0-4a08-a0c9-ce3d676d3b33 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c17e6fea-6da2-4bd6-9121-2ecc5c321252 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c08bbc0-f9d4-4e0e-9b46-14c4b28519b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a56673fb-a2c7-463f-b271-223c6e1992c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:626dc6f5-c4e8-4141-8382-d55f7ef6abc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02e38236-723d-4b27-ab12-b421789ae003 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fbfc9a9-36dd-4c5b-b35c-f23c5c9d8ae4 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85eb1202-6107-4b43-9c23-10e48b77a2a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2eaa7801-2c2d-4627-a350-6aa9e42059b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1cc14be-641c-4e20-bf8f-4b419cb09aa4 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45073c20-3e52-4558-989c-a8ef6886e0e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cf6b69e-d4d1-47e6-ba38-340225ee762c phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b563a9c-18cb-4b7b-ba9d-e5bcb6df4b85 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:377c2ceb-83f1-4efc-baab-c55e84511fbc phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8978277d-6992-4f33-b806-f0d3859751e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d73da5e-540c-4d8a-a172-278dcf839d7e phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78b3ec17-2e50-4314-8fb0-72d74ef60974 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d319b60-66bd-4640-903a-0eb0a219b284 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b60f8488-bd4a-48b6-96ea-4b27c436f1a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0e4ebcc-9d89-41e2-a35d-ab8d94d166ef phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4a9a452-1bc2-46ff-8a8b-f809a96a3b1b phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d281234-9ab9-4aff-9a85-8464417ccc4c phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d90cf32-d881-47a6-aa17-0eaceab4f093 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25710309-8b84-48e8-8eeb-06841f6a9414 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18166045-38d6-4c0c-ba45-b74d230c428d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf4cb122-4afd-4aac-8180-1e98294c264d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fd09c1f-bc6b-4b9f-98b4-77fb89b96bc5 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d03e139f-8954-4493-816e-0efb1f0dce40 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:724f026e-e0da-4f89-ae28-2a0c399b831f phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:064fbbf6-ac8c-4b8d-9c63-472d1c6c0f9b phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:814bd025-8dec-428b-ae8d-3b31c39f744f phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4355c241-ec5d-4a3a-919f-4c70c3bc7764 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86bfb0ae-44e9-42c4-94f0-17cda1cdf32c phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fc787a5-fbce-44b3-987f-fe7284d06195 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45287247-af33-45fa-b7e5-ae0e0c51c9e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1440cdc8-50f5-4416-a560-a9b1d8788ace phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3aa33d6-b369-4570-8b65-d05765806e34 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d3fcf8d-8ca5-4981-a487-6a9c93540337 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e17c2c58-d54a-44ee-a3e6-cc140fcda0de phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0795911c-eebe-437d-8003-ced80bfa2707 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a66beaa8-38f7-4a6a-9800-55cff44521b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f2ec865-a078-4e84-a51c-3f9d0e17586b phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd6e05c0-b725-44ba-a938-22a96cfb8c45 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:893d40d1-970b-4355-a06d-69826325ec4a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2874b9c4-8dcb-4b50-ac1c-b576591270da phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa47eac9-7c8a-42bd-ba6d-02f29519089c phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db728d7d-b771-4cd7-aa01-a6a81d3d748d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a907a905-9fda-4146-954f-606de3055090 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e921f15c-d049-4123-bce1-dd5233e55001 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98b9d467-6141-4412-abce-5242d109af3e phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a02520ab-a541-470f-b438-1e21fda8fbd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2966b5e9-1b96-4b20-8751-c626b4af9527 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7c68191-ab90-43b9-94ff-7152447c1620 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd3b4051-56d6-4003-bee4-ad9317391bd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abb4e841-4f4b-457f-a27d-18e403c825d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eef4d659-feae-4b6c-9f73-2677c77442d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e74211e-a6f1-4422-97bf-67c097a17465 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb6f7bd3-aaf4-43e3-a276-3c2d5db38fbd phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:638e99a5-aeec-437f-93dc-90660369ab0d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69130c53-07b7-4996-b0a7-8094eed8b669 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd3f047f-db59-43ca-bf4f-a30a1c7fe0a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5fd014b-1dbe-4dd2-96d3-a5c3359e816a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c642db4-1ff0-4d53-a8d6-42870675a6b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2a8b0d7-b463-469b-89ba-2356d9f51e07 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff59c4c1-5c2a-4063-b7a3-af08d7b361e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:701d3509-1250-45d5-8110-60802d8dba9c phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1658bac4-9104-46fd-95f4-88e4f262d7b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1951c843-ceac-4fe0-86f6-0f31255919e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee4acdce-8493-43b3-8cff-afbe49959762 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7efeaad0-82b4-46d1-a865-31a8b022c11a phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b66241d-5456-4f16-b7eb-79a72322d506 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e47d26c7-d800-4b56-8ce5-e3662f384423 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f415c2d-9777-4e03-8e74-a45455d4af2f phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cd12ef1-96fc-4395-b47a-b723e9be775d phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b37f5c42-f153-4e8c-9500-909e8b2b1d74 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:b80cbb5f-facf-4633-aaf7-c47c8fb92a36 phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:f7162304-76ba-4d90-b1ba-533d98962fcd phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:89a2b5b5-a0e7-44bb-9d54-d9f62ee863de phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:38991538 uuid:2e7a3511-788c-4915-a598-c94d3954a2ff phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f91157ce-f3ad-4bd7-929b-7fc53105f1e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:895a1ef6-5d5f-437d-9ebf-90d35491470f phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a1045294-edc7-448c-845a-a679249790bd phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a51756b3-1305-4344-9e91-f2c0f2686a8e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:17fbcf93-d1f9-4e20-838e-b1aa6d260b92 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ef16f4e1-6a38-4e70-9d64-c11e0cc27b8a phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a9504438-caca-404c-9946-a1eb39fcb4b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4cb6d2dc-ca31-4e50-873e-a3ffa39ae081 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:489a8c64-c5ce-49b9-b01c-9ab1e2aad976 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:21651297-4e51-442a-b3d1-74ef129cb142 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:de7b0f60-4370-4dd2-adb6-eb7f8cbfca97 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f22cb294-7955-4a0f-bf00-6d1bc8000838 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:32a6489c-a09e-4b47-ad85-7ff419a59c61 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a96222cf-9bdf-43db-98c3-2c68eb184c58 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:48d92904-0490-467b-869f-645d3f3a1a7b phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f15a1a58-cd7a-4cec-983a-fe7692ed0246 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c546554b-f3e8-4bd6-a6eb-f177fc860e80 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05da6489-407c-458c-95e6-c72a3f99d125 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0eb9558c-7e50-43e6-ab72-91dedaa4f511 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b608fd3-b772-4591-8954-7de3c80f00d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:503d323e-99bf-4c69-a2fd-8f8b7acbf66a phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1dfb222b-5e61-4e82-9789-af0e10bf2215 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33de59a9-dcca-4922-9cb2-5cec73be8767 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de198af4-a5a5-4182-b884-fb902d89e1a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2a39175-266c-4bdf-94e5-70e58b3c8ae2 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eecf96e5-30cf-44a1-9640-fe7a1ca9e1c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08c707fb-df75-43d5-ba90-416c717cfe4d phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acd0ef4a-7e06-4000-9f25-b75d91943fd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b697847a-7f30-43a9-ba51-01effa30fe7d phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d42bd9c-1e64-409b-bdaa-c3ae9a99c78d phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d287240f-48cc-4761-9036-dd77f849daf6 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:595ce124-19c8-4607-8032-4a35dd677c46 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53e3d921-a61b-497c-83a4-44c2a2558746 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13723c5d-3ab7-48d4-81d8-fccd406ff5df phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30d90b66-f981-4988-a257-0d4088a5eac5 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5c38e7a-6570-470c-89eb-e6f9fff5b890 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b999900-f20b-467f-a93c-2f28320f528c phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46ff3061-ddd9-42f9-9894-1b06fd51ff9b phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e80cec0-4b27-4110-92bc-e8651880db28 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d68280ad-74ce-4169-b05a-89107d8459f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07775596-0e5e-4e49-99b3-3dd24b2faff5 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8482e500-dd2c-466c-81c5-60528bf5866f phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1b8973e-f18f-4277-820f-a277ecf738ff phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9fab3cc-5693-4d9e-b347-c06699123c5e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e28396a2-5944-4612-a093-663da4e32879 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1687d011-a3da-45f5-b568-699a79886a80 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cff9878e-c162-42af-8b39-18b669ce808c phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df6ed7fd-7e87-4263-ae80-6ef4c20e092c phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84c77380-732a-46c9-a709-14932aed3339 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94768014-8a48-426e-85ab-61d6d1cc6e02 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5da0cdad-31ec-494e-8304-9f7fbb392dd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9463fda-5d2f-4b52-b523-b6204e3a9ea8 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0a56411-e2f7-41bb-be90-a7afa6f35ad0 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aab81383-ff2d-40c5-bdd1-41b33713cd5c phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9afa6c1d-0fd6-471e-9956-f14394f33aee phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ba11703-bc51-4822-8dee-646e96de37e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75ca6aca-6ff7-4afa-a04f-f34080710ad3 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b7bfc18-6747-42c4-baba-8b42c104fe39 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b370aa5b-5c13-4894-a242-5c26c2ed3a08 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d0a9b19-e849-4cb8-bc37-03f3ff8d0111 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1d56ccb-25c0-4ea7-9017-c7c54b444735 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08da3fa5-46a7-4c9c-ad27-b882229b6ae2 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4be6f31f-d316-43b2-98c1-922894a8dd8a phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9e8beb2-0b70-4574-8b23-1f0c2f275866 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25444f65-8364-4f2d-bdfe-2dec2708c479 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ca7a897-504a-4ab8-9608-da7a10807213 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7425155-fd30-41a7-b23d-3236d21a480d phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52d8e023-336b-411c-9c36-3f295972d5cc phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93952d1f-cd2b-4e1c-81a6-d2210661c40d phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:753d1547-d7fa-4b6f-9e11-f0357252f644 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd412c26-0d7f-4861-9cd0-a705f12deba2 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee2e3677-bbd6-42e5-80d6-56c86e36be8e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80ac27c6-5f79-4b48-868b-d87fb02e6d4e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87121774-051d-45dd-b3f7-08ed29bc62f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb1c9dd6-624a-43f6-b394-a16ea61528b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3673e0da-9717-4b17-95f6-20e2f0462aba phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dede2e55-bfd2-4b54-b3cd-da00016733cb phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b9eb5c9-d5ba-400e-8c90-f4792c1c55a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81b952c0-1452-42d7-a57e-b20de7992a1f phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea32c12a-ee30-41c3-aa1d-105f976d230f phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1130adee-f735-4c1c-a4db-c5d56ff61537 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26daadc3-c065-4f68-8f56-ac6517fc5dbe phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:637d917c-2a23-438e-8f6e-7882c10009d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fde39469-b39a-4a89-aa58-19c6c7d0d857 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:077f4a8c-e9ea-426f-b8c4-3b9c389f7cf4 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:111e58db-a04a-499c-a0c1-d4c6957c391e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25178628-ae15-48cf-99af-29dd773b507a phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9895216d-0f28-4fe3-9b07-4ce74108c533 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cbc3564-3e66-481b-8cba-05fd9196fbe0 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e99cdc4e-a92f-46de-9568-857196398e61 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9d091e6-fb39-450c-9778-fcdef67ff9c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4181682f-58d8-4002-aee0-947fa389dc4c phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10589acd-8373-4fe4-a7e9-3f21b3fd2312 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c05831c4-0c07-44ea-ab31-046d8e3cb970 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e08fb80-bf48-4ad6-bf4f-af263a7796a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a853643f-0df8-4b59-9de2-9c7010e4d938 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5664b14e-550d-4581-81eb-828dc14b3158 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:829297f8-6700-4e8b-bb6c-9f68b14f5225 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9350040b-1542-4f28-bfb8-824c590b1942 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:403ee74d-53e5-4ca4-bf19-54dfb967e76b phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10f02cde-7312-40e8-b581-c42c4515ac96 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d18ac81b-0dd7-4eb9-85f2-91ad30658f00 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd977984-f114-4165-a754-c615e78f991a phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8874719-7e86-4af3-a061-be6a1b9ad019 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:efe466b2-816a-4617-bcb8-5fedf039be91 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa389dbc-fcfd-4c8b-8d05-47dba772474e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ad1f70b-f0d9-479b-8c7c-da1032de2054 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84a6d4b5-1793-4c32-8171-4dca521dc4d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86af50d8-1582-4920-8bc3-d1cf5a915133 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58e19e61-d65b-4c8a-9aef-d5e1d025dd75 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:789aa8c8-2eb4-4be8-98a2-ad0674d6a56b phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f06c0891-7704-4a5e-9e86-dadb404e5e64 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a8fc7c7-d3fd-4bf3-9b21-994b553da7d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62aa7070-ad8b-4397-bc7c-001ff1cce865 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1097b61-41df-436c-8c89-60abacb5e985 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aceda68f-e002-4254-ada3-0e443cf4059e phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c7c1d38-3f8d-4198-8bad-fc72c6745ca4 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:faf678fa-3e70-440d-a1e3-8c72305dc410 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba75477e-b4c1-4b5b-8243-6862df921b68 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cba3397-d08f-45c8-b368-b10a85982f51 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30be3f80-867f-4c7b-9abc-cd837ad49358 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dd1d88e-5c20-4c3d-99f7-5eae8bf134db phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:055d5f9c-c8ce-4a2a-be46-b4f131ad37c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8777ad3a-bf23-4021-9789-b6f0d93a2489 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9943c9fd-8af3-41df-a65e-170bb8f2af45 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eec8ff8a-73db-430f-ab3c-ca6520594cbd phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c748a07-a3a1-4cd4-a50b-ffeb9446c208 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6dad4984-7f2d-4902-ad69-169a2d222678 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e565a44-6e4a-4a1e-b3a0-79afcde74b3b phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f2d1175-98de-41a9-8bc0-a1655d826f4c phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf58d174-c325-4a81-9017-e30a31c0a087 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0d23ca5-8c65-476e-89e5-2824e117dc26 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e5637a2-2505-4bf2-916c-201f20fc7526 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12b8b097-4df6-4cb1-8f75-57aa2ed1c663 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2642a41-5456-4833-b981-d503ac3a6819 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19e1ad86-2e11-4ae2-8c1a-235ffa16892b phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dff46a8f-f387-4f25-a782-7f4573360829 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01b9cc2c-6901-437a-a385-0ce29015acef phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b008799d-7b0b-479c-814d-a23e25b50db7 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a5581e7-a32a-4102-9aec-9277c6dfc3bd phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d63d668-0f57-434c-a358-927bcf622788 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3d1e1b0-d084-44cf-b51b-40b0057d64b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:533b87a3-23fb-46d3-b14f-ec6f51186968 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8366d995-b107-408d-a340-d0e46d49d2a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:7a27f501-5d30-46fa-827e-8b66cd5c1296 phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d1eb197d-0047-4414-9d24-86567c8ff874 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:38991538 uuid:5ee49dcd-3c31-489b-aa41-0efca1d1429e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:50d791cc-2882-4c14-acc9-35d9375c9625 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a3f21b7f-e651-4d3c-898e-805941afc8e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:849640ca-5c2b-4614-bda7-a408636f1d01 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4142371c-199e-4be7-93f9-1f2075a8ee67 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d563c46d-eb17-473a-b79a-a453413d08b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5c03029c-3679-43aa-b038-49f73379b46f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ef3d8a4a-335e-4602-8965-cbfa123e9a4f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:27700b7e-f751-4eec-a7b6-765f27ef7ad6 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d9c08515-3ef2-4ae2-a372-6475634a71d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a6dca5fd-d481-4516-810d-d0fefb12d392 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0aa0df61-e698-4345-99e5-75235f614cd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:612c7f7f-ed26-4d95-81d6-08d1ac768590 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:02ff9b5f-3897-4128-a300-b5d7e9fa5c14 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b35a2352-ddc9-44aa-ac82-fae7dd414640 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:715ee51c-a52d-4fe6-864a-f80cd95be588 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:22765215-f646-499b-a845-28b2f243b17c phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1fbc94ab-bcbc-477d-b78f-d37d0470ca61 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f37210b2-4143-415f-8ca0-580ab482f5c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:93f4762a-c66f-498b-9e81-708caf3376b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9f41b0ad-7dcf-4030-b08d-f32a9f0c8ca8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ecb9127-ff71-4b29-874f-d57a7a5505d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0214b9a8-3007-4eda-bd90-2e8dbbc2017e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:983fd204-4b3d-46ff-9c65-878df812f969 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9a28a6b-0e60-47fd-81e5-b89b01747c69 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a22aa1cc-4e3c-40e1-951d-e67c02213840 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8d07ded-db26-41cc-9b76-a2a98a24068f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d317bc10-3045-4fc0-9580-744e6c7c5658 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aae7c92e-cee4-4a56-a0e1-0db9202b0428 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c92067e7-5125-4a63-9baa-b98d4cd07a51 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:190930e3-552f-4fd7-b7b3-c210a8c62e7d phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18608202-e027-4cf5-a500-6a9e06152d5e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7dd5a94-7d57-4f82-9af2-23becd313c37 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6017220e-7d2a-402a-9a43-420fbbbd9e56 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8ba1f20-9d83-4d76-9c2d-e18f8d33ec28 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6d55626-c430-4fb1-ab1d-31ad9b8f5b50 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8c92012-010e-44c7-aeee-02d8ba4ec85f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0a40594-fedf-4c82-b54c-78cd14806115 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b6b9768-40c4-4c88-9ebe-d31495f15c19 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d72ad90-e03e-4e2d-b1f1-54cb810d4bbd phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:186f0e43-2a1b-4454-883c-cb8f7bf0b62f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0fd6255f-16b5-4bc3-a4e9-4d82e800d4a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78fca602-c872-404b-8b08-9d60f95076eb phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80df1078-edd8-499d-90c4-e42a7b99c264 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4cf88f1-e4f6-4edc-8b49-b8190fe04bca phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13034b8e-b492-4ff9-9797-862b24ac0324 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13a562db-f5fe-431f-aa57-33cc76be8c94 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:904cf6e8-95c4-4590-be61-41abf186de53 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c7f9edf-ca5d-42b3-b9e1-ee72eb5521ce phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d94e1d23-cbad-4594-900b-13431ff9379f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34324587-53da-4f54-8e60-aa107d6ba643 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0db5f549-b6b8-4021-9e59-e778d17888a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bfd9aee-7d1c-4057-8614-2b9e2f03a21d phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:21e369a9-de95-49d7-bcbb-f7e75a8e54cb phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4518d4fa-0e94-486a-a55a-4d28845781b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cec6ab2-8d89-416a-825c-dfec0c7010b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25243b1b-275e-4488-997d-86af1baea9d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63708f72-c40c-4da6-9661-8646d7bde2a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd43f4ab-1d71-4c29-ac3f-25423b6bdf08 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70d867e9-c2a4-4345-81ab-5bf9f33c05f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b512a83-4913-43d5-814a-5aba646030e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f30dedac-876a-4041-b0a2-2274d53516ce phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46191d10-a4bc-4ac4-8110-631883612a1b phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d8c4305-088e-4c69-8a0b-cb02bc269659 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbbefacb-0025-4014-a98c-d2ca3a478529 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ef4c94b-01c7-4379-bb9d-6f7ab68fa4db phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03b4f0fa-04c7-4051-b5e4-b3d517c73fa3 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e4b6677-de99-4caf-938b-de5b3225631c phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca1e8230-5e9f-433a-bed0-99f930e4dcae phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32731b3c-e1f0-4d96-8434-4805419f1cb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2626c21c-dc97-4ff0-a69e-e3c9044ce7fb phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03411b11-70c2-4ddb-9150-b0e99991608f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2bf45c0c-6e23-4a5b-81cb-697903bc50ca phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:950bc28b-ef23-4b5d-aad8-3dd3d173795c phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:efb25917-6804-4fdf-a319-ad87de4a2e70 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bb0432a-134d-4f3e-9b96-64015bc6a806 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f07b85c5-12cc-491a-aef2-2dea423c92e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd73b526-478a-40d1-b069-61019db9bf76 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c719ab2-511d-40e0-9695-c322bd671ba0 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4f92638-b32b-4a4e-ba2c-d6a2c8078f3e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9976201-c403-424f-8619-03bb09fb1d09 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:040c0532-425a-4d76-a2d6-d1bb3a7f39ad phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fe1a9ef-72f3-4968-b77d-9607300b7cd2 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2bb4697-0716-4424-a50d-792b95f6540a phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5f4ef49-4fb8-4731-b830-075b2a6e04f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a73afe16-cc99-4195-a2c1-b66253728788 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:217a4b05-573e-48b2-bd1f-9076e3c9ff1e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:488068b1-5bac-4ac2-a537-260a0efd053f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6760a76f-e5c6-4bae-8243-6fc24fd8796e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:434436ed-89ad-4d65-9b62-12b245d8428e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4acabc0-c9ef-4205-9f2d-1f3c77855f87 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e1db47c-3bcb-4c0f-82b9-c5e0b7e2dde9 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24b5afbb-bcfe-4228-987e-af37faaf4c59 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e86c0027-694c-470c-b5c0-f7133639d359 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1241dbdc-a5ca-4265-8171-e68bc8cf0200 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cba06f1a-b123-4e1b-b9f5-92baaeb69727 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66179c24-36c0-40b4-b9ac-0c8331e7e439 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e45baae9-8718-4346-9129-a73bdd07707b phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26d1b5c1-cc61-42c5-86ad-1681e42040f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b77a78b6-453b-467f-83c4-5da7a73403a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc7539ae-0791-4392-9689-f53788a8d507 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a9fa7bd-810e-4ae7-859d-9591f2d02639 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90a6a39d-a739-477c-baa1-fed2d1b6cf9d phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0533b4a-fc54-4c78-afe4-89518b11ed59 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7369f6df-2d88-415d-9b32-5146ef1222f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f0e9ad5-b887-470e-9497-874ec6711831 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64cd9837-3b22-4ee8-9052-315c2d1f51b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bed6bb8f-5600-4e83-9e9c-0f5a690fc1b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f34e59c-ded1-46fd-978f-704eeae382f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8451c138-9fcf-477e-bf9f-f02c5796abab phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af59eb84-e9e2-4bfa-841c-dbe56f9817e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fac548cc-3446-4544-bc8e-56f5010f8558 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3247b3e8-0b56-4238-b9b8-b55c05ae2be8 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:454737bf-e364-4fc2-876a-40bfb10c8880 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4f442be-fcc3-4a31-adec-dfaed662f23d phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:973ca92a-776b-4088-8720-b81d1589bb4c phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b642f4f-6d9a-4a2b-ba5b-8d022a05d14f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70dea48b-0c82-4950-b132-b44bfb029058 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:996c3680-1d69-4ea2-83ea-0a7bf6eb2fbd phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1afbbe49-6b1a-471e-a657-45b48b3c1aaa phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e431135-14b4-4b87-b83a-c589b7e95d9e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:21bfb10c-5eb0-410f-bf21-697c86b6446d phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6045aa09-bd1a-4215-8086-38d0b6fbb4d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ca949eb-36d0-4313-b127-80ef050dd4a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:368cbbf8-887e-466a-b338-c90ccb7732b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:312b7bb5-ad6e-4724-9e24-6e8952b86438 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a17fa882-20d2-492b-aeff-7e6d47eda3b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cfaf9e6-ac9b-49b4-9d9e-57f907d1493f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9e289b1-e638-4376-8d68-9bc137283432 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8ba8df7-c031-46c9-9b7c-74cb15e4daba phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3324ee3b-530d-4649-9413-38806211cf6b phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67aa002c-98da-4055-8245-33c789e71a44 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:080ebe7d-8099-4543-805e-7cd39dfaa095 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d076265-901d-4f6b-9b83-2aa98b90657c phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15189bec-4c3b-427d-b423-c64bb948a48c phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75ee6213-d33d-497e-a51b-69abdc4eb3a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:904893e7-2e1c-415f-8c9b-dec990da069f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:392f8543-c090-45dd-a978-110043ebc946 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:443af69d-a468-4417-91b8-f7159f8fcd65 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c7dbb94-9fc7-4dff-98d0-90cb4143b57f phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bea64e81-4744-4c6b-8817-fa625b4c6d01 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3362d50-8aac-4a68-9ecf-2446e3734681 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ff28a4d-63d3-4059-8bf3-b24caa1d4230 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf25ad25-1766-451f-bccd-33a65493e7e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30dcecbd-109a-48f4-885d-528e48fc74c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1ca7f9a-05b4-45db-ad06-78c386d77a73 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a943b7d9-c58c-4f84-ace6-7577f7c98eb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc186e95-4996-4680-99e6-70d7ac775da2 phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:f47f982e-9e0b-4600-bae2-55471207f26e phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:3e9248d2-8796-472e-985d-c82949a63fbc phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d066a621-30a3-4460-978d-b3cefb637ea2 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f96c9892-22e3-470c-88f6-356aec62fee2 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bf6588c8-70f8-4d81-aab3-c6f23f730d73 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d52215fd-bec5-4e97-a7f6-cfc49c036a30 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:13fbb517-2b83-41e2-b9a9-befa9dd9db3b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d1da16dd-babd-4017-8fcd-1a1ff3df12b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:34e3f176-5d14-4b33-afaf-b5f965a80099 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:377cb095-9168-48e2-b08b-2eaf45dd42ce phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cce3ecc9-04ca-461d-8e08-1b0550de21c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cab40a82-6fc8-4b85-b21b-1fb3581c3e84 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ae908d51-1c7a-49a5-ba17-88b442c66813 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0c98b2bf-ea4f-4ae1-a717-e8802573744e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f08763bb-ff26-46c3-8d26-a760045ccb32 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7598094e-d03d-4991-b736-d1ee357af5b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0bfd6ac0-d8bc-480b-bcfb-dfb049454287 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:705c1418-a5b6-43d2-bc3b-2a9004715ff4 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8699b81a-1a08-4de5-b692-554c53e17149 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d9fd694e-b8a2-4ec5-9790-13089cf5ef9f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:26017fa2-1734-45dc-981f-21bb9170f1a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3957a73-23ae-4d40-8713-86923751083e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01c25f76-6802-4e1f-ac8f-6992431e2f68 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a82e591-1984-4fe9-bec2-deb29ff81cb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afb86614-08d5-41f0-a92b-2dc62bfeb2f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6eb0ae7e-e8f2-4c7e-a582-f5fd39e08ea5 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5af12879-a514-44f0-aecd-c6e409f7255c phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a32b899-35c8-420e-a97f-977030cad31e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0126ddf0-7a95-4fd0-b8da-a8e8d6c4855f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db96e701-ce37-4e66-90e7-b49fd6495098 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b159b48-d3f1-4788-8218-01b1bcfa7031 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24e795b8-f6e7-4c74-81d8-bd88ad0163f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81db0297-ec78-43e6-aac2-c078603de0ba phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3426cca3-4be0-435c-9e80-9a88ada4257e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1794214b-a5ae-44ff-ae65-f53597b0a77d phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45d01d46-68f0-4f55-828f-574d638b90fa phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5edce35-f08e-4aaa-96b0-0775d7319e5c phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cde71aa8-3543-4818-b558-0c8b2af1c469 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbbcbdcc-2f57-41ca-af4c-f492b1bd6b0e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:338ba9a9-48db-4e31-859e-052c1df5a9ad phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed904082-1f08-4056-bfeb-fcbb71a83d70 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e68ab066-b833-42ab-90a0-352589757dd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34a32ce5-ab53-49be-ada5-67ad87461ed4 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88e28f20-7735-49b9-876d-c2abc42f5d7e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3920eff3-dbf7-4083-a123-e455c8bb4ccb phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:007fa3a8-7292-40f6-b1f4-f7c851c7daba phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab729c4e-f1ec-41ca-a9ae-b1da949bb8f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0246f895-a96c-4660-a9c5-beb30ad1670b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3687444-713e-4b95-a7a3-bcde852dd7c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e422dab7-f683-4823-8296-4a5ccca30ac7 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72e2650f-a413-4468-92c5-0104202ac27a phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6011a18b-73b2-4f28-bf82-266952352497 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f35c5a7e-a06d-4fee-bd12-83b2b361897b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afd85729-168a-4366-b25e-be99f05a0948 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f76eaf5-4451-4656-9eb0-e6fadbaad305 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:957f0df4-99dd-4afe-9697-cade44b40607 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65a6d3da-2191-4de5-8f9d-51cda95b7870 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8702e98-9172-4603-995c-6f654d0bc8cd phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd3782c4-fe8a-4b02-83d1-623c716aba5b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e073ae18-3c34-4317-bb18-674a81290898 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e64a5893-65ac-470b-9520-e4c79dceba62 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa75a785-7fce-4c15-81ec-17850ba26a37 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9921c3a7-f9bf-462f-a3dc-3be19b5b36cc phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a8b72a1-90fc-4f77-b0c5-8230416d3f83 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c90e2c6-5aa5-4d92-bc4d-2498d258a80b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ca27a41-b807-4abe-b0c6-cbe5919eb9f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87fdc9a6-5f91-4cb4-b5b9-625ab74f3239 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47a38205-7c3a-4680-99a7-0bc6249f48eb phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6a35c6c-ff58-4e45-99bc-eea70d9ebe7b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1ec0dc5-1aa7-4c83-91e4-ea7dd794d344 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58e20574-2924-40b1-a803-e6b3aaa9b050 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90d1427c-5009-4755-bb05-f1767b531bc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a23360fa-8586-4fd4-9929-5938f4bc13fb phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b88b2e29-43cc-4515-9510-0ed4269e73bf phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6fdefd7-8ee3-4d77-b801-b84a9269086f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:379dbad9-dfed-4d5d-a0b8-435c02291188 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83ff2bdf-5c49-4937-9349-737f7796b19d phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1719aee-e796-485c-896f-064a6c23ed1d phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c8c6367-de82-4764-9fa7-81c4db237188 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b76f47e9-65ab-45b4-8864-ffc7a5dab75d phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e9bc7ff-798b-4523-8bfa-68209da388dd phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff1320d2-7677-4ba1-9ee2-276993aa4d15 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37e2754f-f46b-494a-9bf7-3e6840a3933c phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdd0a50b-e222-442b-b44b-19401b9bcd21 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2dbf26f-0a12-4b74-9804-bb718ccf9419 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cb2fed7-4443-46d6-9309-79335bc6c6ef phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02933db6-dece-47ab-b8fa-14e7315dbe58 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65c9a7bc-9fa2-423e-943e-31c742026afc phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5bade53b-bb11-40a7-9f63-a659999fae55 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff081aaf-2419-4695-934d-cfd248184bbf phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0f2ebbd-23d5-4ce2-804a-72bc7e4fbab6 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2f67314-fed1-4e39-b332-3951c631a14e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e54a346-5b49-46f8-9f48-fae9d8960e9c phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a48c811-3c4f-4882-96e5-2496da4747d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f63a668-87e6-4192-b8b6-7c177ef3e1f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6393d95f-df0e-46c3-8f25-d7cdf6855124 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1683589b-36a0-4a2c-a709-8bf72400b4c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4180a713-e70c-4f72-a327-a06c37a7694f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d286f8fe-59e7-4f45-9573-c21ff80bdb6d phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c1b42d1-8605-4d8b-8a9d-17a08d645eea phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d49defd-803d-4e29-916c-bc1206a519e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b227f141-2cfa-4b55-a449-7534e0823c49 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb3c0ab5-dcec-4af6-ab1e-156474c5d53b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ccdb6c0-bc39-4e80-83ab-1e2447cdc3b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed90da90-09a1-4ab8-b222-0e042030ad24 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1f29f9b-06ce-4129-a6a9-3c88f5b40a66 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8509c554-107f-4789-a2b1-a4bb724ecf32 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96e1ad16-6657-4d41-a6b7-53225416d955 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97ff24d0-fe43-43e1-b07f-a5b60b401329 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6af61456-491b-41d5-9f91-cc170c3f3d87 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69a90e86-e024-47c0-878c-800e5fff8092 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9313d47-3ffa-4c52-8f70-614bf1489fa2 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e3a435d-f9a1-4046-ad93-6bdd46931093 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7fe6778d-c9b4-4d83-bca5-18ccb6dd6feb phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a57f0a56-12d9-44de-bb24-3183b39f722f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d361550-c748-4d2c-8ea9-88813e4b2197 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69dc393e-2cd9-493b-a71c-745062458e24 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b517cf0a-dae9-42a1-b1ca-0d12b2ca9d71 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6db67273-d3f4-4377-9f09-dac0608801b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5296ac62-4ed1-4ff6-a47b-f9cfef5015bc phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4185fa9-da3a-4227-b084-8dd3cf45eda6 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65e13a8f-fd0e-41c9-b080-2b56841ad6f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00cbe347-76c1-4358-8138-c93fc79959d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f099a53a-f420-4f24-94d3-cd7d81153fc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83fb72ba-07e3-4b0d-9362-674fda8d54cc phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97d7943f-a4cc-436c-af9c-02d857cbcd1f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09f95182-95c7-4b1f-a6c7-3743b5c575b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef485114-f05c-4f0b-839f-faad522ae5a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c830db00-c43b-4b8a-bcd8-339cf992e2a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:398098c4-cfd7-4057-9577-f44002f84f58 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eedfccc6-9fd7-41e1-9930-f15208d3bd45 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f48c5e8-6179-4341-b2b4-0fb93a3e3e60 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75676145-4949-4dbd-bd82-39e30a273463 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2ecb0c9-dfa2-48b1-bf50-58c79def4f96 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ee0259c-4efa-4591-bf9c-522b83e09b2b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cb967c6-d827-4e28-a258-e280cf9dd9a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7f6f60b-9a70-452d-abf0-f9f34732d14d phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a6161cb-84b7-4967-87f1-34427df9286b phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c020728-bd54-45cb-836f-b4778d31b1ba phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3eee7228-7d92-44ac-ba68-1b4c2b04c599 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fe827d4-827e-4d09-837d-cbb6ccadba4e phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:364f9602-200a-4db2-acbc-d87a6ee165a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b43d6856-98d9-48fe-b4e6-f371b092b332 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2c5b60f-60da-42a7-a7cb-2286cc7aad9f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8635cc90-e327-4664-96be-e1abfe22c8bb phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b44212a-3f3e-48c5-a595-2c9e439b94a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2fcb0c4-9320-40ea-a41e-7269cb13fe70 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad51e761-f1d6-4197-9d21-95baf8ef1209 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23909ebd-1ae0-49ed-8e07-5b246f58269f phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abad8240-032a-4060-be0f-ea18ab974ed4 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acf59a59-6e5a-4660-a135-31b1df0445cf phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ae8feede-9ce6-4a71-bbac-3c2eae02fa56 phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:8264ae4f-b63d-407e-a31b-e9ca261e4ff6 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d8ea6f8b-c953-440d-b712-42fd5bea4006 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e3b4e05a-155f-41e6-9afd-85499f612daf phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:90ed8f62-c5c6-4242-9c16-265066c1f764 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:da0423f0-29b9-4fc5-9db9-947becafa780 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6f80da9a-9887-4bb1-91b8-9beddd006031 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4b2ce5ee-09a8-4e15-82bd-5b49f8082435 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3245f617-3b44-4c43-be9f-bb6900383cd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:be03b8b8-cdc3-4a82-857e-44667e77d872 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2f074e46-af0c-41fc-a821-10a7277cfde9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3e40bf58-719b-4844-a4f8-ea7be57a3d89 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fc8f0634-9d37-47d8-ac53-d01c6ae1aaa7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d523e1ba-f401-4549-b10c-ac687d9cb909 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46f7d189-e5ae-4881-9556-ed2c8c41962c phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffcf4e67-3f5d-4ce6-ba5e-a9010f32f7a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:836b6722-552b-4d21-9cd6-aaaf4e742b69 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:211c3b55-2358-4389-9a56-1560cc647922 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20986ab9-5e90-4547-8835-12de99f854eb phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c21dd3a-7a91-4b93-84c5-38f8543c745d phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:044d09d1-910e-46ac-8991-fe96dbd838e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffc01f46-ec4a-48b3-a93e-68720da14325 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22c61f0e-0508-469c-8ecf-3b02a82b7deb phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3f2c8bb-31ce-4c95-a76d-73c63ae7bec0 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9e4f994-5397-4e3f-b903-c4c09d6b6b0b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07ebfeff-9b24-4f56-b6f8-977b2186baaa phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:350b1ecf-3194-45fa-95d8-cf86fb9da0d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90196c1f-899d-4acc-a352-a2d60727fe5f phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00cfc565-e140-4149-94a2-b83c5ce46bf1 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac3acb5f-92e7-4e83-ae81-ac50f0502a32 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3932e0fa-238f-4443-a0b3-938f17215069 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2888b196-5b4d-4f8b-9437-40e955a9b683 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9192eb7c-67db-4f1f-a6f3-21e0900ac8e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b98245f-64be-44f7-9e2e-23300683810a phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49933e22-1f12-4a3c-832c-45028102676a phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:21549fda-9df0-4cbe-9ebb-91d1c7ea2a8d phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5aade71a-399d-4270-8185-3f7407542690 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc63b356-9be4-4b29-86b4-e4b970a26842 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e31af08-9d1a-4f64-a01b-14efbeedbd77 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49a96f1e-1a1b-4dd6-b70c-de6f7ccce0a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f143826-2f38-4d25-bff7-8c4b13496a20 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:207f5676-b65e-4086-863c-1f69ceed097c phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69774e39-2ffa-4b27-84c5-93a89ace6bbb phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47a4043c-d4d3-401a-b355-e00b08124f04 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:140a2d78-c037-4728-9767-ffea31b4ea97 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f9fec16-1ae3-46de-9479-9438a85556ea phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:013b4068-8beb-408a-abe7-02fea1a3734d phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2270a686-5193-4ef7-aa23-0a64d574aeac phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a8fda11-4435-4847-be1f-131399810e40 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31f703f6-ffd5-4fbf-a4d3-c13f3735668f phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec82ac43-8ba0-4e9b-9ae0-d868b7034ce4 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5617fb48-d251-4c84-8a01-2cabf54e6e01 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8cdfc3e-eee7-4b1a-8669-7f450f8ca65b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8a3d191-f89b-47e9-ac3c-25206c28ca7b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8924eace-507f-46fe-81c6-52b8d080a8f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab759a30-5dcf-4b9b-aa2f-761e984f7579 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02e52ccf-59a2-490e-aa7f-ba1bec86c399 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e387044-61f1-4e44-ac29-b2feb14af0d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b985b0b8-6feb-466c-9b14-4b711e097493 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90692a7e-05c3-4802-adf8-fbb9e275fc02 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eba383e9-e9c4-4e05-878b-b77fc47e19b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e848f58e-8f8c-47e4-a523-a6f95db102a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1e6a6b9-1708-48b8-b38f-80adcfcc2b9f phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab802d3c-52b8-4658-a1b8-ca5789e3b0ae phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2122a058-70bc-475c-881e-aec0c7da5b5a phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b46347b-5bec-4757-8846-130f882adfa9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ff474c0-8b31-427c-8a46-19b39cf7ffa1 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2510388-a744-4431-aa23-688ba6ed44da phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:693ca1e5-238d-4530-bd27-22b5a9c89c39 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:510bf7f4-e4b3-4c4a-b3ce-1c2dd755b4ef phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be2f2309-3e9f-4f70-8e33-ca49fa3c0ef0 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7cc4d20-9252-4ab6-ae31-a7237d6c4c57 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0b75e86-0c31-470f-8ffc-41cc98eb7803 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d41cbed5-e052-4145-9317-cc020474dec5 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81d1a1e2-b3ae-4655-9ff0-c1b17b450330 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c0c1bb6-158a-4365-ba63-8b1fe5b6ee43 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52685a8d-afb9-4a4a-906d-4889b9490dea phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff190f47-100c-4470-ba05-970012ff4826 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13ac612e-c8ca-462c-8c1d-7a30bbab05b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07bfc38e-3f45-4c9d-ae95-69baa18bd4b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d25d871d-8493-475f-8395-a05ec32a3e5c phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e53f7f85-9212-4464-8a70-e072b0de84be phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70af9216-b30e-409b-9fb8-4ae017514f7c phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b62d1d9d-f2bb-46a4-ad59-00d2f075fd62 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7dae2c0-63c3-4f71-9b5e-d18e6a181934 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:930e1ea5-4b63-4b84-a36c-73478345e8ec phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26b1d2fb-8684-4999-a4a5-cec2cf7ca25e phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83caa40f-629a-4f08-ace9-dd7ee055565b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c8091df-8608-4f58-8108-d701e6e35120 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b69bdc44-2560-4717-bc87-8cb4430d0588 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f77691b5-5d02-474b-9095-eb246232faf7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9cd7097-a0bb-4685-95bd-3ff7c7698aca phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f30bdc45-7e22-4b3b-9c45-13d6c6a94472 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:896b2502-bd6e-461d-bde5-5ff66bdccf87 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6dad8410-280a-4b60-a85a-09e41709c897 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1abe1d16-30da-433f-93cb-b33bb424d86b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd1012bd-ef14-43c5-80d5-4fd8b0205fe7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7d939a4-f06b-435e-877c-daadd897a377 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:629ee098-58b3-4e73-ae53-130e1249976c phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e3de8c2-dd76-4535-87b7-353e88358ef3 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81a6875d-53e5-4d7e-9911-37aeba93e0cf phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:585b7d4e-daaf-4f8e-b2f6-4ba2511f3725 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:607888a0-b09a-47e6-9271-7350e48561b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f87c3a6-29b5-4193-bc30-a7b51b2dd6aa phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d33eb44-759f-451d-8be8-dc12aaacac12 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6423d64d-93dd-4f20-9fbe-18f8b4a317aa phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02132af4-4b28-4cdb-92aa-d80f716ee899 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:671b268d-c5d1-411d-9a4e-2936a03b8688 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc5ebf4d-2221-4e53-ba3e-f75cae20d7b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bce6002-0750-4d63-a754-32a2fcdab1af phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7434e60-a6f8-432f-9ee4-a0ce59d7c518 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17312505-f2d0-4d30-aa1e-1660a08ee135 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f6a8453-7a94-4c5a-a4b8-5916a391f764 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e1b19d4-27ec-4a52-886c-725f22717d23 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa41ca74-6993-4585-95e9-a052c7f5633d phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c201db65-856d-4d54-9594-47b48e2b354e phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2ed4131-5d4a-4791-af74-cf0cf9912c44 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4e12956-8316-4a0b-b26b-302600de2e08 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b5f3595-8e75-47a3-a3b4-f19119c62fe4 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4517c94d-0875-4ac9-91d5-a27e18c733ff phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:129d0f17-5d4c-4805-b3b9-364ab7779598 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c565ecc-cbc0-4a95-a28c-aad1d8b23d9b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e7b6c0f-8c51-4c3b-9694-9e477c37bc1b phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e1b660e-752a-4c00-a52c-986ef54794f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af1bc796-5017-42b9-baf1-c949ccfcc001 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14bd7af8-6fcb-4fa4-a3a4-35e3c146c1a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76e92b45-93c5-43a2-9c02-7ba0e785afeb phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d109949a-cd3d-4dfc-8fbf-ea4f3a20375e phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f664bd92-6cb3-4244-bf79-af4bee7376a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:284d1925-4d13-4693-9901-c1d7f66a0ec9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6845bbc4-b7ab-4e10-82a2-b4e1d304cf92 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2625e9e-5cc5-453a-8a9f-959637632432 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6181536-15d7-4771-9f09-0999607a37e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b4f8ed9-cda3-4998-8749-f1c45ec951bf phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8483e298-2d09-4360-9357-eed632f3dbf2 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b00cda2-6191-45f8-8778-cbfce1dc4457 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:556dbaf8-fc0c-463e-b27f-ade8129fd095 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e4d71ba-3833-4ea7-9c41-f8fbd1859519 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7dbf4d8e-375b-48d8-b1ff-51d529da4583 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f73eee0-fb9b-4c4c-9283-b52c93a2ed51 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96962f53-155f-47cc-ad37-b6423da05564 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0587f5c5-272f-4488-8821-c1643b000571 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0795f009-582c-48f0-9df8-63cccea408c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31208785-d4fc-48f7-9f32-02b5dd45c221 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50fd5685-fe90-4372-a8d4-e8f177087da2 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20ff3b6d-978a-41ef-8d6f-95fbe74596ac phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1da141ff-2db9-4f8a-a395-bcea6f02c172 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b183d331-0bd7-4bd0-ab2b-d6c49b7e5a36 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9b12159-bb1f-48e2-be48-c6e82caeafe1 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20a2b025-7215-4424-9dab-6dcf57eca044 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:904025c3-5565-421e-9c22-1cce8ce028c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:af19b76a-498d-4f4a-b3bd-631ee2be27f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:039be1e8-90c2-4282-9b5c-f60af711094a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:38991538 uuid:c4fbb1dc-83f0-4dea-8cca-0ed0f6f2b690 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:39a98e48-65c2-4173-9c02-e9fd2b3ab6f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:417c139b-700e-4397-8642-ceb6f72b74be phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8b798475-f06e-4ac8-b1a5-710ffa371f5a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e05fc7fd-0cee-4a5d-bb91-e672f16a5201 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1521907a-6637-4215-bb6f-4be100c179bf phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3a57f797-4876-4d14-86d8-945ef5c4c187 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1946626b-d3d5-41ee-8dc5-c6d7575d604d phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b48083a1-3ac3-4454-a671-67f8b632cbbd phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:039223a6-9c1f-4c49-8eff-4cfc27f291d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8b7493c0-7b0d-4378-93e1-a4515d3c3023 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5832ef60-2d0e-41f3-9a04-9ce4c2ddca4b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cabb6024-85bc-4e0b-9add-83710e53451f phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1e78f064-b3b3-4355-9a4b-3ef3e1750c26 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:254d9851-bbf1-4b1c-8418-fcc13934c2d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:598d79b3-2bad-43e4-b652-08d92e9eb0c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fbceab63-2ccd-43ec-b773-fc30d1855295 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3da57f3e-3a4e-4320-95f9-0cd70d1d78bc phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a18128c2-47fc-4aa0-b8c7-d2bc89f147cf phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8bedf1b2-8ea0-4328-bd6a-e26f55a0a770 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8808172-44a2-4bf1-8946-60116c000c1b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0910e10-a21b-4660-83bd-9416eea73086 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7e6ef6b-86a6-47c4-b82f-22762ed3b5b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb9ec204-47e3-439d-a8de-fdc594e252d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33eb8dd6-bccb-4977-a134-eb947c7ee1df phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6784fcec-5354-4667-8deb-b2aff0ba6452 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:050cb385-680a-45b9-815e-ebcf16fd9707 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e656dc30-236f-431f-a902-bb1d582be167 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8845acdc-6cf5-4af9-9377-9da875f09e9a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d301a55-b10a-4d0e-93e2-3741384b231f phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8e46506-98e3-49aa-a491-ac771ba70b08 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14330eb1-1435-4ecc-9183-211ac09426ea phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:964239d3-7118-4c0b-9a81-5548a79ad95e phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58bbe9bd-a301-451b-b840-1222e738e73b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10d2f989-edc0-4b9e-b839-62a4c168ebce phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e25d87b1-713b-4491-a858-7804c007b073 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7efae57-212a-4421-a645-3b2af77bd0ee phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4845839c-5a32-4a8d-8870-3aa9edc3f333 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:080613cd-edfb-4457-89f3-710277997a48 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce0b5d0d-e939-4abf-886e-15e8ff6e1aaa phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:897585ac-38af-4d91-b500-74349528fed6 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4a73c84-28c6-4a60-aeb4-76d10c6a3ee9 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d64bd227-d713-4536-9c67-110210342de7 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7a556d8-be7e-4f80-81a2-9d3215ba2a07 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fa349f6-9594-4bcc-b297-1e95a99996db phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3fa0ac0-29b6-490f-a68e-0fffc8d8283e phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fee2a0ac-ca92-4c73-a440-cddfb186b988 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a7df674-8181-442e-9b38-e14636b1c801 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06ece63e-4c50-450e-b827-8b1dcf3d4b08 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:841dcea2-89b7-47c9-9357-0df68d9032f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:078f3b9a-5cd1-4344-8cf5-96b28c0fb3ac phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36ed3c00-4837-4d65-a765-c4af87def935 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfdfd8f8-ffac-4312-af5b-66831f89049c phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14b77723-bf62-44b4-996d-7a1e5cdfb118 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53bc467d-0b0b-4a42-b1ef-ec847d1dd334 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cee8994-f77a-4451-99a9-37850a025e8a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c7da391-1f48-47f7-af07-3adb41b9ef4f phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd43d80e-7783-4381-b402-fdf9f8dbb06a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd0387de-104f-411a-bbf1-55ef2fd8c177 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7d79b92-1072-4312-a47b-43b55ce87f33 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4de8581c-cc3e-4a0e-a1cf-d2d4d84bb9e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d15aebf8-039a-4adf-95e4-edc3ab72310d phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6c05593-8d12-4666-b7bc-286d36dbfb0b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1274d51-e46f-4a44-912e-34a622a74aa7 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bbe03f9a-6f6f-4ce8-a686-37d8018460fb phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a38ea721-194f-42d6-a6dd-64a24ff9c026 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8733b560-8161-48f2-b07d-beac0a1475d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3061e784-751b-464b-ae4e-edf0a858b715 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec771760-a344-4b10-9fe6-64db2b40b0d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:540215f9-c714-454b-a347-80258d864309 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2950d3c-ebd1-495b-9c58-49b928c5bffc phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5a3e4f7-0a9b-4ed2-b8c1-52b346c3a2cd phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00b0351e-dbed-490f-8231-4aec526d62b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7d17761-c6bc-416a-8b7d-a30880de9ff8 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:507d7334-b2d9-42d6-be66-3bf15e849d58 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5e18e26-f0fd-4cb6-a98c-f397fcb28c6e phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e095183d-cad0-4df9-94e3-467e20cf087f phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83eab513-b93e-4757-ad00-af2deab496fa phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01c5fbfe-fe8e-49da-bc31-33b4643f5b86 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6fdda38-0871-42cb-b966-7cea881a0f96 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0320618-6d16-4114-9dc8-3e90b51ebbf4 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3de26879-0f55-4a1f-ade8-08485049253c phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdb2321d-e7aa-407d-89ec-db303a214247 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:358b6c6c-e1a7-4fb6-9f2b-51acde147cac phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8390729f-dd1b-4ebc-b0c2-77cbc109d515 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aaf9e4f6-e1c6-4602-9b8c-45c11efef65b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63d539e6-29ae-4196-83c5-7d6712af506d phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa43bf6e-bab1-4b59-82fb-68d74a9d2f1e phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4602983-0ed9-46b4-b5b0-c23a135810eb phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6959c583-8734-4d73-ba59-e2e12e46d308 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04220ccc-7ca7-42c7-96d5-323219f23a29 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bed33145-308d-4f22-973b-6405721fa436 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95d46265-75fe-4ef3-892a-d60c15fb1d8a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c30c926-bc52-41ac-9487-fb5d1ca23ca8 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c611f8d9-fc2b-4326-b350-29871c45ef59 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db449bff-578d-4f59-92a8-3eeb98e2692c phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bcf044f7-8ad8-4d48-bce9-152a3a3096be phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7aa9c81d-ef2b-47b2-9925-6d96ddcd80d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe804de5-fabf-45f3-b285-b69b7bfafe7a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23ea4fc2-89e2-43e1-b245-f7be7322afb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6e19364-b5a4-42a6-8349-48b43f255cd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69358268-d2f0-4975-9955-aab8fa8c6d7c phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:053b4291-cefa-4a69-826d-655fea841dc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70aebd36-231b-419c-8bd6-d54fbcfe110a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71036de4-2c78-4584-9259-2d49b12d4c78 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c55813fb-53cb-4d15-94d3-4c9447376a97 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b942be3-e063-4862-95b7-4c20086e37b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2e9b8f0-156b-4e22-b44d-54c0d46682eb phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:976d964d-d8b3-4c3e-ad36-32edc576624d phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55d01e8d-eca4-440e-ac3b-9f2fed263b6d phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f72efc8f-24f3-4d89-85aa-492dffe3a291 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f76f3080-342e-4e87-bc63-18660cd4b7ad phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed48c64e-fe8b-4590-a38c-57767786e6a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57ab1366-4125-414e-88c6-f223a27c59b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2662c73f-8379-46f8-a8bd-2bc2a36ca76b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:190cc6ed-d903-49bc-bace-76d8fcdd67c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7491d711-2e88-4365-9b0e-d03db8d29638 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:107a5a13-9cfb-4488-b614-393e74961a83 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f977d70d-78dd-409e-92e1-7f4121b3418b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0964a219-52e1-4318-8ab2-d0c87d12d49c phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f160a9d9-ac0a-4a3a-8263-9c90cbc4747a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a58e0420-5221-4946-b27f-48499d09c297 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eed79cd5-d074-4c52-9d1d-8d4ec45d991b phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8aa93cd1-ef9e-40b2-8dfb-74ab2f8864f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8595d322-1c14-4018-b28c-1fbdb7fe7a7a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e983a2c1-3a48-4e8c-aec1-ecf24be9b123 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e7b6549-32f5-4def-8c70-8234f30eb7df phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ba60805-f74b-4bad-ba04-95ec32e04730 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e65ddad-71e7-4069-ae42-64677b1b76b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3be4db11-d5cd-461d-9f7e-2258693de7f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0cd6f8f-518f-4024-9963-d4f44e5e7a6f phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14806292-fa5f-4c88-9869-1f2dbe62d533 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1d4fa20-47f4-4905-ae69-01625051b7bb phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1675fbc-4c18-489c-9fb5-cb37ff9233ee phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9250c69b-9d23-4da1-baf1-4ee97349f686 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f7383eb-9177-4ad6-8560-653ded0b43bf phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9344e1a-8233-4487-ad42-16012ee80cf8 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9721c4b-cb41-4078-9e2a-c3363967d7a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c94c94bd-8000-4629-abe8-20f10c6f797a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ad1937e-8fdc-455e-aefa-05763b11311d phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc169da1-816f-4d04-9319-245ee086b4c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d4e6e4e-2eb9-44b8-bb1b-82bb2ee80524 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb1a0a6f-e534-49af-8ae9-d90c9f5144a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:786b2cc1-a30a-4b49-9dc5-15cc4ac94681 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52d85176-b660-4f3e-b630-f06ab366f2b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1a5adc5-6388-4f24-a907-18cab4a5129a phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6f14415-5147-4ee3-85ff-63735df0641c phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:c8ab092d-504f-42ac-bd58-8fe517b8b9d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:9f250dc2-8c08-42fd-bb33-5a666efa3df0 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:39369315 uuid:4366f81a-a3f3-4756-a75a-27fc38216bb0 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:aa69250e-fbf7-4c8a-ae84-6ec35651417d phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2c0ef94b-8d91-4c17-b8a4-b7cc116f3a32 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:245f6c8b-923d-483d-85b4-fb09f0bf963c phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:496748f2-5098-4069-805a-e27de0ce3973 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d027538e-6b51-4a8e-b0d9-1354b615b764 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f02858cf-f773-4882-93f6-8380f4821baf phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:38121494-2cb0-4d01-af03-12197c15e75a phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ec2bf9d6-59d2-496e-bc24-4549d0faac59 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:14be460a-24e0-4902-9910-deeb9fe0a86e phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5f3e40fd-275f-4ea6-a550-331124032381 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:61dbc323-31be-4f9a-9c5f-88f5333e99ff phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f0452cbe-1c1a-437e-b6bb-e9c5c3249714 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:68a57866-8ce2-4ce0-aff1-c6dd197329e1 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cd3e27d3-8b39-4c41-ab0b-fb3e8236b1c3 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:64ca3593-ec93-459d-b94e-dcd53a3a9a8d phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:708421bb-7c6e-4584-a4ff-020e838a844f phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f0f02875-7f37-45f6-8fe7-72ae691e960f phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d201a378-040a-4ebe-8aea-1901f41ff388 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1ecb3b51-205e-4626-82e1-6dc999dea813 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8cfc9e46-bb49-4219-972a-a3f81979870d phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1058c08d-d227-4275-ae1a-86e702c8cbec phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:87e82b72-bc4e-487e-9518-06351c405e5f phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d4e5c3c4-d1a1-49e3-bfe3-f0b2104c85be phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:94e70d64-450f-4c58-a753-922cd8026bef phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:69983d48-4751-4f38-991a-ebb15ca17eb5 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:79af14b3-b159-4aad-ae11-6aecf7ebf694 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bca2a024-e587-4254-8523-eadc30b4d0b5 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e6f39b32-92dc-4d91-ae84-831185c88bf9 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:15f7aece-3d54-4828-8202-9598288212ce phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1f1cdb75-632c-4f60-a5e7-cfc7a0e0f976 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2c37a40c-976f-452c-aa82-c6803cad0a6b phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8c3e4ace-3408-4406-906a-58d76842d882 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ef2e90d9-1d61-4713-92c6-942361902a69 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2c3813f6-7770-49db-81c9-275d4c686afa phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0f30d28d-f464-490e-a1d4-4b3ed96020dd phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:afe8e67b-bd8c-44b7-8b3e-9f794df49d19 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cb41fd3f-e114-4361-9d50-ce59d58f3538 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5bd29f20-71f3-403f-98eb-355cb40f3db1 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5736fd1f-2880-4238-936a-6c5ddf680c87 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fe82083e-3401-404f-9a45-cd8104a41b27 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:56e619f3-3319-47ad-b919-fb7e67fce129 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:47bb876a-aa3e-471a-b225-c5fadf094d8a phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:94d01caa-a9cd-458c-969a-080db6e3cc2c phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1f3fc056-f557-4c53-b9e5-c1e6e8754707 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ff9520bd-a99d-4af5-928d-c93c816cd122 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:52061d7d-d928-4f07-9b66-7a4c059b1883 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c3139936-5033-46ca-b8c5-30538459dfee phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:643009c8-e262-4473-9aab-6d0203b788d8 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9a82e390-91df-43d7-a31a-8e2c3067e2be phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:64167b84-71aa-4e5b-b95a-18a38acb07fe phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:81f7ce4b-a27f-444c-ad44-1d52acb80eec phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c15cb1b4-4a9b-45c5-8e29-87e8e98280e7 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:aa2134ba-de52-4947-ba49-77360556dff2 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3a35e864-7fdd-478c-9485-2ff86a9e50f7 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:281d3edf-732d-449c-9daa-4fb415159b17 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7528f3d9-48ae-4634-b2cc-7001033ee875 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:111acf66-27c0-454d-a7a8-6739552cd67d phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c69a86b3-1ae5-4481-8127-23310ac55c10 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:730c1352-66ee-459f-aab6-26e9925f16d1 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d382a28c-35eb-4a85-827e-ab7cde00f2bd phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c6bc559c-ff88-4430-864c-335164b14c40 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:901f28aa-dcbb-4e03-bf06-cb420feb9622 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:4ec9a93a-e13a-430c-9339-258074131e07 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9cb282d3-7b64-4a85-8638-6655e96e25e5 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b90ec4cb-3205-4708-b372-eff6797c3930 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a32d620a-18d9-48ad-b6a6-d01c88be70be phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2d14bcac-1faa-4e5e-b0bf-a0026fb0a024 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bb10a899-fdd0-445e-bc4b-9350525fc1b5 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ee12f854-ad1b-4d8c-b42c-e9980ab23634 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:178477cc-9760-4929-976f-d25a235921f6 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:394d95b4-6734-492e-ae98-92c0cc70f628 phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:1230b30d-92f6-4348-b1a5-ca94dc28ee24 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:31a326d2-0c39-40a0-b68e-361382e6962f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:2afa9173-2671-4d85-8034-e02b700adfc1 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:38991538 uuid:d17d257a-3457-4b14-83d9-2581130a571e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:83397995-c318-4fd2-b167-9611ee7d56a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f11e750b-9d15-4ec4-8407-9c1679662515 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ac68ebb4-a641-4d6f-a588-3189db6215d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5a4310f0-6fff-447c-92f0-1282313e9ac4 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:33d3880a-76a3-470b-8906-b0dc676a9cbe phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9183fd5b-e851-4964-acd5-d5c22ccf6a15 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ad58ba92-114a-48ba-8a50-feecf3303f89 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b3a1a97a-d7fb-4fa0-9793-1946c784899d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5740869e-b4e6-402f-a50f-2d4cc7cb5096 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:01cbea46-6583-4ead-aac5-0617f558cb9c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1cd6e5e3-a5c7-4bb0-acc6-0d9cde95667e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bf3b5c89-151c-444f-a5a8-d383405fae8d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:94cf301e-29b9-46bc-9dea-eccb53f9afc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8c5cf9ac-2d9c-4baf-b928-0d5583e9c65e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9b17d7dd-06cc-4c66-8b21-a37109a1301e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e68fe704-68cb-4731-b85f-e5edb557719c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:011a7871-0b9d-4cbf-9734-fe975e20cf2d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1e856c24-a079-41a0-92c3-47a4756f61d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9b9f4ee1-a222-4aaa-b934-299f7da48bd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7413603c-3c9c-4f94-a089-d1adb3a11a04 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d577e0cd-e47b-48c6-9488-59a2df7e640e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2b456cf-b506-4b59-be6e-4db4b83bb96d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecccd85b-4ff6-4921-a6bb-237b5fd7758d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d37039f1-5b8e-401d-847a-729f6b58e2f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c99783b0-75b4-4717-ab93-746ece7958e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87f67060-7f69-4e0e-bbb0-98163c33b163 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38c5d042-98e5-4ebe-a200-11bf98df438f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6f23c3d-e61a-46c4-be41-b463439e368a phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:334549bd-e416-449b-a593-6c6f1e205427 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79ec8f27-1cb0-415d-8ffe-1e3801038edc phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b33ab8e8-15d5-486b-a44e-0e74dc924b02 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3026e881-a597-4c5b-90a2-b037be2d8a07 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4bde53f-cbdb-44b3-b94d-72c40f8e8798 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:465169b3-22a5-468b-a28d-a94786642dbb phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0aa7afb-4d6d-4a88-9dde-0720a760f82e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f14cc975-f489-4325-9975-0994b4733694 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ad19230-564c-44a5-8fd2-1060c8136de9 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a52bb46d-d781-4f22-bd7e-6a2cc94bb5a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ecd9f82-b2ca-4421-a338-357a57bcb96d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7f77552-0b9b-4831-99ac-143c5c0d64c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a55cbd1c-9f10-4677-b542-512be0d1f8a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0b09248-225a-431d-9907-994d7780337a phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae4ccb00-149e-46f7-ad26-ec3e0ee3da65 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cc50afe-6d7e-450a-b38e-62635cc6d679 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a96f129-ccc2-4c95-bfd5-fddc86b42272 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b47bb4a5-543d-4aac-88d9-ddd826f4f95b phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49ee2988-02a5-44ec-8795-58b73413cb06 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1235cf10-0cb9-4674-9f71-546ce4a770a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:464c9d45-1698-4309-986d-eb3e9acca9b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da0f5923-6281-4444-bab4-574fbc8cffe9 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51211f13-93c1-4813-9780-d936e81e4abf phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5270f2b5-3154-4133-8761-741a2ac28977 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0d2a3ef-4139-4dd0-8905-17eac751a3f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be82e73c-96d9-4753-a9c5-166e25871700 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b6ef371-b3fa-4b50-8cc2-3bac178fa4db phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56df2f44-d4e0-45e0-8927-b750684cdfeb phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42b36be1-cafb-4670-873f-246a96c5077f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58ee5c7b-0acf-4904-8c24-732845064d3e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e953962-0528-4881-b86c-6ab274418ccf phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c3ee463-2817-4eee-9b50-c870983d15d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fa6ed71-c7e1-486c-81ef-4db2ce4de4f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8006ad25-4f23-4506-855d-91504856bf8f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c13e0b12-a698-4d1e-b6f1-f10e0c359dc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89634de1-909b-4654-8d03-fc9e41cdd4c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5bc2c7be-bf5f-462b-a92d-b648bc148e0d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8483d0b9-bc5d-4aa1-a5eb-b4eae1febc2c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c85b630b-d8af-4204-a21b-a70380718a5e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20ac0237-53ad-4610-aeaf-0a72bc2d7af7 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23181f37-8de6-4bc8-84d2-f9edce1b7c50 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d14c96f-8ead-4cfb-9c0c-e79b351f6bd0 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e66186ca-cc6f-4e87-966c-996e9e93c448 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aac5cf72-7440-41d4-a8df-e6edb5a45b9d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17ea8d6d-0ef4-40e1-a8f7-d8bdbd0b2680 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e09d1050-bc8c-4177-afed-5eaebbe52cb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b06cdca9-4286-42b4-b345-6740e321fd1f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:879fb38e-f20c-456b-8e70-3e693d3ca848 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d48bafdb-c0d4-4afe-9134-b397045be4c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffb3a1a7-11a6-438c-8a51-32d3e7eb5366 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4655d219-2df7-4fd4-a191-3da303f0e216 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b97d5783-1ca4-40d9-a407-833262eb58f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aac6de8b-5d18-4682-b9c5-9637c0f93097 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:113f08f5-51fc-4ac4-b65e-5a571e44fca8 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37ca08ba-c69f-4707-a6b0-2790301e95ed phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43d86074-acd3-465b-bf49-37a7c0732662 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f04ac753-a859-48c4-87b1-157483e384dc phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8c10104-5738-4140-aa21-e01ef21dbe20 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5451c83-0945-40ca-a62e-9c827cf91868 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56a0b264-f4a6-4654-acec-2a868a75170a phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be391c88-dd32-403e-a6e3-880bea695860 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e5553b7-6891-4953-9a8a-ee4c87353db1 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f12df8c7-4f8b-46b3-a01a-7c4d796d01b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e253f14d-d4d1-4231-b9c7-e3ff655c7ed3 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80aa6ba4-8795-4fab-a585-504414d300ed phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ec04547-edfc-4df5-8cc1-38794908728e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31add017-30f4-4ac6-8dc5-c045e728c37a phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ce40a7b-9c9f-4a90-970a-84b474e94740 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bcb222f3-db23-4c34-81f6-e8f1f0c4c98d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbb097b2-5b87-4857-8580-b746bf4f720b phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:517135ad-d6b5-4467-bfd5-9acc248b8b3e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20701fc2-54e1-4aa3-8b6e-005543a425b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3117182a-a15c-4f1f-981c-b99596921c25 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a99ee4a1-bff3-4eeb-97df-b6098273950c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd8adb68-4dbf-454d-9c3d-b62d66fe6740 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88fbb6fd-d7a9-47a2-815c-a12da257815a phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7db7f862-a6cd-40d6-9314-bbb660dcb0a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:715d363c-6701-4e10-8cc8-115d93907edf phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:015dcfe4-dfb5-4b9a-967c-d04ad553d96e phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a78535c1-aecc-4683-970b-037944760d50 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9279a68c-f9ad-4cce-be11-42db2d0fa68c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c852203-351e-474a-b639-e50e3dd17dca phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d97f3fa-3316-481d-b551-9fd3bb876356 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8a9c616-01d3-48d0-89df-1cadad5e8281 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d071ef97-47a4-4d4e-8148-8b101e2f5b1f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:515a4d91-943f-449e-b69a-1472208e66a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2eb009f-951f-4376-ba97-07294bc1bea6 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9d88aa8-5d6f-46be-a480-3ba3d09a97d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba8f5f0b-df92-498d-aac8-a4eecda11b9d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e59fbf4-e1a8-4825-8b8c-420dc6ac7b2b phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa78328a-6030-4dad-b38a-492545d79d61 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63c158ec-5e02-4956-a9f8-88843d23c191 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:883739a0-227d-42e1-893e-a72fd6cf43db phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f562b795-e494-4ab4-aff4-59466c3959a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cef29651-1d2e-41fb-9e5b-99c986d3d8e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e0a7b61-8d8e-44f7-9d18-d525134f8e4d phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0511b2fc-cf86-4d8f-98b4-4637a87111da phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ac5c2aa-73ce-4e30-a557-4b1196ea3242 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5741288b-200c-4d73-ab7b-d6f1d380bbcc phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:319997d1-e9e5-43c0-bb45-5e35ad30058f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:921b1236-a306-491d-83c4-dd66aeafd31f phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8eb984f-06b4-45c1-b7e1-9e4a240eec20 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72e5fdfe-885b-4a14-91bb-b16adebe821c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:011535c0-fad3-4b5f-8ea3-952364a453b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66907108-618b-4c03-800f-a67a3008f60c phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37b2b291-d8f9-48ad-b8b6-bbba862774b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92f41fe9-bed3-41dc-8b6a-3f410f0cd7cc phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7a15764-fc6a-4e06-a3f2-038654e58983 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82d57cd0-499c-43f3-b122-112dfd5cc6be phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17416b7a-5bee-41b2-8d0b-85560d0bac2a phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2e3fb67-303c-422a-b145-bd0856d84539 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0631c1b6-20de-477d-bdc0-838e5eacf5f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f220b7b0-5e38-43e2-a0e4-f4cf7d4287d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0e4e452-9e0b-48d8-afb7-0611d8439e35 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19442fe1-4be9-46a6-b350-3aa99c340ce1 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29b16a8c-27b6-47dc-813a-15cf8dc09acd phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e648e30c-7d02-465f-ac68-535aa54ed213 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b75af853-7f98-4687-bb2e-926290eb6966 phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:93586742-18f0-4812-bfb6-40ef3fb73f4b phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:94175088-4724-4ab6-b51b-990baa456dc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3b6e96d4-0fa3-4bb2-813f-3a5099b5eeb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:38991538 uuid:9e71ed1c-54d2-40de-8f63-789db2ba7d55 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b47f3195-b652-4632-8e76-fe897ff3ba10 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:69522fb4-044e-4ce5-91e6-b03ca4ac5aa0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:551283eb-99c8-4b9e-896b-4c09745160b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:65aeac20-59a5-4714-8445-9c1bdf224849 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e19eb5e2-142a-4fe0-bd08-bf1c1a1a2ba6 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c333a19a-2a1b-4fc0-bd5f-a1f8ab0e79cb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:18f1769d-23ba-4324-aefa-8cb6ff8b1393 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e28fb030-0025-419b-80b3-4381538e12a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a6eea3df-c35a-4bee-a23f-e9f69d3708dd phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:64bcfbc3-d816-4616-bd85-001d243cebb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a7d3452c-faa4-4baa-9f72-a9504166e81d phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0007165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f61aafbc-792a-43cc-b949-aa76036dbaac phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e29fab02-6a04-499b-8f24-4f2f60854574 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a3fbc2a-04cb-4652-b500-71c8d7d3cf9f phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4d8ce22-d8a8-4434-87d3-45bb07549b86 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d0cb9ca-6af9-416a-9bf3-8683883b9e3a phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51491186-fe50-4bf8-97f5-fe86584b311e phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc6cb971-2f5e-4f23-8352-b840037e99de phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66af33c8-5128-4a05-a97c-d6e27555feb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1525d70e-9ebc-4d0e-b428-281f355b5ffa phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:718cd81a-4f12-4ea3-9ed2-c2109ed167c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0852d8fd-ec8b-4d0b-bc81-3d7c48bbb4ab phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d010954-0ffa-4780-b038-fbce33aa8688 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:346aad65-72dc-4588-b170-075f730d3522 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c3d6a61-e447-4513-87b2-edb793cf3fa4 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d812fcef-eb5f-4e6d-afa1-d787c68f49fb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8503a998-b454-452f-967f-6e7efd2eaa45 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:461a18d4-1aaf-4bac-8597-626517f6b0f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90b57687-7775-4f0b-bc84-da5159c62efe phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2749849c-5d5c-4ff4-8e3f-2f7bef1a550d phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7996173-e46d-43a9-848e-60cf0c65e69c phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6a233f0-bbba-4e83-9ce9-717368f7b167 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8021a8a0-9473-4f10-99b0-65699c43b8af phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dbc948e-40ab-4e48-b8f9-680d85d1b547 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:854ae876-b96c-46ab-8dac-c7da0e4023bb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f05dc1c3-d3bd-4816-b460-1b96cbb08cd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cad4c2e9-05a1-4513-8a3b-1aa68730b705 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:138bd550-62c1-421a-a973-453863d66235 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bccdb661-9e69-41bf-b322-7499851f13d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:193e4f3e-e894-4f77-8394-89c076c84ade phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:511ba531-36d3-4a41-83ec-7d35b77aada1 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:590769fd-f7fb-4843-ae89-22c6c0de0ae1 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:beeb8189-0da8-4fd4-8574-33bfb91b4cd4 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc94399a-fde8-43c7-8591-a9ba7c4b0517 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81ee434a-0a9c-4024-a423-870e664ddf4d phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cc7cffc-a7df-4e4e-9010-421605aaea18 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b476cf4-f82b-4996-8b7b-fe74bbaca3de phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ccb0927-d014-4abd-927a-7aa55f915279 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14b06673-a4c4-4b56-a737-27abb632d7f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94e32d50-47e8-4636-b6e5-6ed6283b4973 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc59bddd-7b7d-432c-8303-a3a555a0cceb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e0eec46-c081-4224-bcf3-f4beff33a1fb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8daf94f7-50b2-450e-9c08-d0ac2766915a phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a2570fb-d177-42b7-a839-e1116d2721f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7027ef2f-f9d0-454b-bf2f-d9abdced7fb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9faad5bf-b777-4b22-9d36-2084e75f75bf phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:168df4f8-41f1-4e5e-80c9-f5a7e819f5a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22eb845f-f0ce-4d2c-8c85-82bccd89f02a phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62d534e3-3b29-467b-8154-32fdeff6c37c phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b0bf2e6-a168-4adb-a633-b169495e2171 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da4dc466-e5b4-4484-bc37-ef4952c8b789 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b1b5e5e-d483-44ab-992e-e8e846609b22 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4375939-c1f1-4818-b770-8bf54313322b phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad7d3557-ab52-4fbb-b194-71eae12258cb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08c47ad4-99ce-4c98-953c-d7bd156064b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c1a3d5d-0308-43a1-894b-b1dbcecb628f phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d86e047-01a3-4560-ab00-9bee6e448889 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f05287fe-b89d-4e54-be31-18211a4abcdd phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee9a3d73-7371-4658-88f1-00dd1b999fe2 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:857949bf-3e1e-41c1-8445-abc90ab7bc40 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23b1a3af-0659-47e5-9fab-a4f4b2e4e322 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a326ba69-a830-444e-9c77-9e6032f7065f phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14d57634-90b9-4aef-86c2-c4b283cec25c phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aee46135-8115-44e8-ac95-93c6385c68ec phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59326b3a-1327-4b2f-b368-0c0dacb4ac34 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d613925-5b79-48cb-9287-5156e97c7f83 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ff55b87-7d26-49a8-9af0-67f77a689d8d phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf46dd5f-10f0-4a33-8ea4-7e930fe505d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d9fc211-761e-497e-ac74-f2dca0e58497 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c48d71a-b72d-4045-8787-4218e0445507 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27e485d0-3440-49b2-9f09-1421489f25d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32e1b2a1-44c1-45b1-a177-8c5cfeaa6048 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8cf2e91-556e-41f6-b933-3ee84561ed30 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:904caa86-c197-4a3e-8e47-1b6221a9a4f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbdf9a62-c43d-4c42-b802-559c4552ec42 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad910c7c-cce7-4835-aca3-65815b57a4ae phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e5c3291-23eb-4681-ad5e-bbb27c441d1b phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdcc4e12-5cea-41f2-a183-f8b808f17df0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:840cacf1-a626-4b0c-b211-ee820c117d0f phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:094dc71a-fdf3-47ad-84b6-4d4602518c00 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2eb6c6c4-6193-474d-a491-830503fd8ea1 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b64846d1-4de5-4bcf-a352-6b7cc973d3aa phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc04989f-3d6f-42d6-90df-6a696e2c42f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e998f65-b63d-4d51-a572-97d13021f373 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f50e1a6-4cf8-48e0-94c6-e39ae50453ab phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ebf47c5f-c85d-4432-b135-2ef60a4ac1d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e44cf93-dcbf-4150-9992-bc2efec02e0b phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1707e4d4-0aa0-4137-bfd5-acfcfb4a415e phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9126a36-1fea-4bc3-a88d-49e34d3b6fdc phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e2d8ffe-f5c5-46fc-a216-db680726a3e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d331d61-916c-4ff1-adec-6723c010e523 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:024ccb12-93df-4b73-8dd1-254f5ce3429b phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54065369-9559-4574-9ef3-2063399e41c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1549987f-ac9f-4cd4-a5a2-9699985749cc phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38842719-5b50-48d4-950b-e7e56352c2f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e4f683c-e7a0-436e-b3e3-bc656b68baeb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3e8c61d-72f0-4919-a5ad-5e1f6c8dc6be phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a2f974a-b4b4-4b36-87b9-b0a5a40d59ae phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b004c27c-8410-4d40-9387-521783565166 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ed77160-3133-49a3-b614-220f5664594d phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed5ed3b5-066f-4e2f-9290-b08103451048 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27d3a32e-8917-432c-a666-b2ecd8d68ada phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df62461c-b8e7-4001-9a6a-c744d915a014 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f247897-1eba-4802-9b58-a3e1ad49dd77 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5f2872a-0a5c-415b-9315-0bd6fded6b05 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a44c3472-3ba3-4b42-9e5e-a2606281fda6 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0eb543e-2828-405f-abf0-5bf4b58fc36f phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca6bf3d1-a473-4d02-b956-2b8c424a55ae phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44e39c99-2d66-4d39-a775-872930fe1912 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e4c79f5-c84d-494b-8f85-6295ac26f8e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97c17ca2-a848-492e-b19d-6edb5861ddec phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38df0acd-6053-496e-b03a-3363ac4a5498 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b107d022-856f-480b-97fe-34262ac7bb5e phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8c3e8f0-78f8-4c16-b39c-e4763b2ac2a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b86d9aa-e338-453c-abf8-0e333dc16fb0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20046bbb-2658-4f68-b666-6717f6bf8de5 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83e48b8b-391d-4688-85ff-1599f4744d36 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33f0feab-2153-44ea-b908-30758b68a94f phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d05af587-0822-43e3-aa47-4295fc543574 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a44ec44-99df-41ac-bfe2-5eba2ab867f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a397fe10-e628-4d70-8496-5455bbe602c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2beaf75-dc91-4bd6-b3c2-7d44cf452e47 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b97e525-90a7-4474-ac6b-4ccbb77a8fd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9780d08-627b-45da-a5f5-85e758c36582 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fde8c5de-8dc1-4b2a-97c5-8b6dafc209fb phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c99a4660-0a1b-4d22-995a-59c852097313 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c2bac30-02cf-415c-a4cb-0f89f1b0ab8d phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:237693b5-b5ac-4ede-8a68-027b014043ac phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:adf47437-b827-48e5-8262-cca2bc528322 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8229dcf0-49b1-47a8-8055-e883440f164c phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:166927bb-60b4-479b-83f6-649528585966 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be3b0ea9-eebf-4f2d-951f-5b1065fc1e27 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba9d2538-896b-46a7-830c-1aedb71766a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a276bc5e-58d2-495d-8bc8-ab5c4d9a3ae5 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:536e95f5-2e93-4202-9718-1edd89c95c9c phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1dd52c26-c130-40cc-a922-ea8dfe57b494 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a09d186d-1feb-402e-8746-a515050f2818 phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:710b66b8-c4d9-422d-8864-37057b74c9db phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:e5c81b11-b780-4994-b5e1-1423397ecfc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:710207c1-7a48-4170-b20c-2f8625567d6c phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bfbfed48-a05a-49b1-871d-ead313b0de54 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:779b756f-d646-4ac6-80ac-ffeb4c648576 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:16cd1a77-b1a9-49a2-b131-3e45c9dcb01a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6f786145-f9cf-402f-a01a-f4765d4f77f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:01464dc8-6f48-4679-ac7f-e98c79d9c8f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0f19ce78-c543-4154-9485-b826c5e81505 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:12d83839-dd74-4b10-9d47-4467ab15654d phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:50c25cfe-fd1f-4ee1-98cc-54bf4a42a872 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a7ab252c-8c40-4ba2-b9e5-a28782156027 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8efe7883-47ca-4958-a7c9-68af6c8fdeee phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:68d9731c-3c3d-4763-8a30-4739c281e6cf phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3753f11-c2fe-44ea-ad68-9667c259493e phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:121d3630-9153-4fb1-9132-bb1615a081e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17f9f493-429f-457d-bf33-e14f4f31b508 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fac48f9-abf1-4e62-86a6-bf50b5194095 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f590f72c-5737-4d33-9a49-93a2270986b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17ffb83b-ee0f-416b-a5ff-7f9dcc4ad6d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76ccb128-6bda-4b3e-a022-57062d0166fe phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1acfe900-80b1-4ee8-9673-fac9a64bdbe8 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b9b7cd1-a4d7-4059-b5fa-bb58759ae743 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98d7bff1-02e1-426f-a448-b52a7903db16 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2379c1f-6973-4d05-9a5b-6ac104bb0a83 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d41058c-291c-48a9-b7d8-66fc60a5e0f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b093d84a-dae9-4040-9cda-4c5f852907c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3327d630-221a-400a-8145-2d15737c1b71 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb3f9be9-5b65-4c96-8e9c-bbaeb80cc060 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1054ea3e-5841-40d3-8f86-614e5c624e56 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e239c9a-7662-4106-ba3b-1e8264fad8a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae5a2b89-01f7-4496-a635-a43a9483678a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33396bdf-39f0-4063-b014-208f22a09c4f phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:310beff6-4a1a-4af4-b452-b0556aa8aab4 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbb06b70-45f6-4165-b0fb-abee6050e234 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa3fb245-533d-4e7a-8e24-eea611738a13 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8890cf13-33a3-4d85-8864-71eba3573f87 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad9655b1-e85e-40b8-8c3b-ac61fb6d6329 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72f0d22a-7555-46e6-95d4-8f4197b8a95a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0007165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2859cded-fb25-4389-81a1-66e986cf30c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc8be218-783a-4863-bcd1-534190124cbf phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf7dbdd5-c69d-454d-9051-caa238fc795d phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00d0340d-9f60-4bc5-98fa-3c3ad9945ba2 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab4e55f5-9acd-4064-95d9-e166d1b7c622 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d50beedc-4ee5-4596-8b54-59d824fa7d91 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e8cc9f2-4cad-4569-8171-5853331010e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ccd4669-75a0-487e-9c8d-ba9a7d15bccf phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd4158bb-ec94-48f3-88db-e9dee81dc28e phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abdeeb54-3710-47c5-a2ea-c4a4e41edce0 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07b48e32-c757-4610-8ae4-bdecf14cbfaf phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81d24560-3696-43a1-bbdf-8269f6b562ca phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e26b95c1-7770-468c-ab5f-0bde3afe0b41 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f6ec6ff-5dd9-4528-b29f-ee0b94193aa7 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf61c84d-4729-4adf-a1d1-9e7dee02e782 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b4b2bf2-986d-4bd8-95fc-80d570b639c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:385eb766-274e-4ae3-84a9-45be154adb71 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f481cb5-2a0f-4b4e-a2e6-020de50cb5b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ffe419a-a8fa-4ab4-9f2d-86117168efea phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:844ddf2e-0f98-4147-a287-4f3b634fb2c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32617281-b3d2-43d0-9f64-2a2686e8b102 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3d874d8-970d-43af-937f-8af305ba394b phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48879712-3b30-48d4-ad25-cc1ebc6b2cea phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4021eaff-99e9-49ef-812e-f7c3fa84ea49 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c71a26e-3e88-424e-ac33-95adfc4df39d phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59bb284e-bfca-4742-9907-a6ae2bcdce7c phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fda839c6-d5ef-4332-a754-3fa0bc52d5ae phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cccb91a3-1fba-41a5-8a7a-22b309568733 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a36ca861-9c62-43b0-8ebe-5bb43776299a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff42f854-d1ca-4a36-93cf-c8e809c6f123 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e07088d3-e8a6-4bb2-8ec9-99c939e27899 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8885f35-0c8b-4e76-9074-a7b532d81a25 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a52452a2-c83d-46d0-b805-1b39e3f31b58 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b21cab4f-8b02-445c-9573-cc0412171782 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e52abde6-3e89-4a53-9da4-a831fdf2055a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a33d03c-0059-4175-9262-b0b2e190f2b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a1e988e-23d6-4306-ac34-2b9b0edd4b57 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f64c1081-7ef9-40d9-b773-ff4468d9596a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1062c72c-3338-4f19-ae43-caeefa450169 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:340c74e7-a3bf-4edf-931c-cb93579ae375 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9724333-e786-4cfa-b290-8e7691f7ad70 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80bfeed3-ec47-4be1-9934-0140279b8abf phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23b7d178-0872-4fcb-a928-465e79f9bb8e phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ab4352a-e511-458d-886d-9d0e0b2439b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59d211c3-3435-44f3-9f3e-405e35ea55ad phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:016fb43a-aae9-465f-8f55-0c5bb2c1152b phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ec44e12-8c89-4847-863e-ad1e08c5347a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15586486-4a8f-412d-bfca-a14d6f751a76 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7db74af-0702-4f99-bd34-ede1cd839322 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35b3dc64-74e9-43fe-8f7c-04a789435560 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92d3097f-e674-4601-9fd4-8268e4054300 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1ffd87e-ad74-4673-933f-b3ccb636880a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:052d4791-106b-4f84-82da-151a4fa55200 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:694c405c-7896-4181-a6ee-a6edcc1ec7c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e065dcb1-53f9-4cf0-877b-e63e83edbc9f phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f09ee55-9dbb-4f3c-a55a-bd4b7c1a5e06 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d68f1b02-c639-4f65-b042-8a2f4fd28c11 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cdd8eed5-b996-4eb7-897c-2726efd0c2cd phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1a91e91-a734-4980-878b-d2d28023e3e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4181be9-4cf0-4eac-9612-fbe619ec0220 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4514ccc2-c3f5-4310-9090-8f803f152869 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78a228cf-ee7d-4536-9bc8-1a16f350f549 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6cdcced9-5f35-4f98-8d04-9fd4d8c048b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67d83efc-19a6-4d00-a326-8798d7c73dda phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1b99341-3557-4298-a744-4add1c639b7d phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46f99f61-c977-4b1d-8413-8f5ee19152af phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f7e3771-e4a6-4f37-bcd3-684e5da5ee25 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c18c838f-524d-43dc-b2bb-4d45aae94574 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f57c2ec3-1420-4339-a22d-47a0bff5ff72 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c85b342-8000-4e7b-8b7a-75f001169df2 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0052098d-5e32-42d0-bdfe-5a10621a39f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77a9e2a7-f996-4585-abb2-7d0e8a315b9a phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfaa84d4-9b86-4eb1-9487-f6c4cb472d46 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ccaee86-370c-44bc-b7e6-3069c0b7d8ca phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f80fdebc-361a-478c-9900-4dc97304db96 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8f76972-76f6-4203-8b60-227b4644f58e phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e494148f-59b5-4588-98a3-598e99f96a6b phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f83eacd-88c7-463a-993c-2df98f6f7813 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3586a8e3-da72-4f9c-a73c-d50ae349e11f phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09b2dda4-b30b-45fd-b2b6-2f51394e6ba8 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:586c8fd9-ecdc-449e-8d64-f347439a1d38 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20305d51-780f-4d86-9435-c7a37cc7ed87 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c127b2e-b31d-485e-bca1-23148079d6b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fd190be-bb81-4f56-9561-e736601d23bb phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f23e5f58-ec92-4357-bd25-590bac9680f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:194b722d-7a05-4d6b-9ddc-aa2e87da21b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d00e87a5-0419-476f-95e2-e4f51ecfa6b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:efd4c426-e210-4176-90e4-6532d2eae11c phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c98147b0-7a27-43d7-938b-e10f9858de06 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31773198-bd1a-421f-81eb-30a05c62cc91 phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abeb51c6-9502-4112-95cf-5918c1277fab phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:791ac3ef-6e3a-4f3c-b36c-b0485b0c00bf phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:7a7b8dcb-99fc-41db-b6b4-53e1a13bf3f0 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:39369315 uuid:84d934c6-1c56-4989-82ee-125219a4c146 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4e6de30f-e326-4964-8322-b0745c02785a phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b775b785-09dd-4e9f-88a2-033af9b9e380 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e2ce6083-e6c2-471b-a80d-d36eb6013cca phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:83c21659-fe0a-4761-ba28-e683ee2bc564 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8790bf7a-d91a-4da8-8b40-98cde7f019a1 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7d012f12-e42c-493b-958c-90db52c7c41b phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9f598877-8dff-4f3d-b314-4c5be02ec3d1 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9d35b041-2f34-452c-b89d-80d468a08b16 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:66492db5-81bf-4b7e-b1ab-51372af94e2e phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7301535c-8558-43d5-b81f-ac9c612b8b50 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3e22739a-1ed4-4aad-b6f8-2b0c548f4f81 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:df0d5443-8ecd-444e-9f39-fd75c06d034f phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:96554293-d548-453a-8ddb-95efd433cc5c phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bf301681-bc5f-4a8b-8759-fe99c4a65adf phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:74d5443a-0fc9-4b96-b77a-9d701530e993 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:71f6d7fa-e7a2-436b-bab0-20dcfe126f75 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3ab04e8b-306e-4f8a-a1f0-ec41b4705902 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cacb813d-eb54-4b5a-bcc3-e27d6568572e phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:33f9dbce-4af9-4fce-a9ed-0a4e1106f9de phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b349a179-f213-4d26-bd2b-7d15c655e5ec phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:110ea4d6-2ff2-4d0a-bbfc-fe633d01021e phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b7cae32f-26e7-44c7-bbc6-603c3d575579 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:36828ec9-863c-4071-9c0d-b58af80d5aac phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:55b03785-f334-477f-93ed-bb1196ca44d2 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0921d55c-093c-4ef5-b30d-7d3091639d79 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c030bef5-946e-48c6-b939-3f426762b635 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c9525aa7-4ac5-4a68-ab93-e788e8e1e13c phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d2b92275-eece-4f86-bbac-0b4d0921b0d9 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e57144d5-5ba3-4aed-b272-a269306baaaa phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b23e78ee-8dab-4913-8a46-063ecddefd8d phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:88f06ec9-6cc3-4e50-9b1a-c53889a37373 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9a376791-e864-447e-8cfa-20f9accba3a2 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:649ad387-b4da-456b-a231-318581c28b4a phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ce918927-7afe-48c6-aeb8-a0a0754238ea phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b0da9788-7841-4c33-a2b3-ba223ca9a436 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fd30261e-2b02-4fff-974e-8e9b29f824bc phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0938b22e-f7ab-455f-8263-636804449e61 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8abba359-dfb0-4c6a-8361-74191e04bfca phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b3dacbe6-b7c6-4a4f-b5f1-29912297544b phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cdf9f768-2c37-4682-bdaa-a2fff64eb3d0 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:71d1f567-48d1-4489-953c-97f1d379b590 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:640d8e83-1709-4b44-9c49-5c6dabf249fd phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bf2ba9d3-9319-434b-bdb2-51dcc864ff23 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cc9a2b62-5445-4a7e-b298-26472b01ae43 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b2b39c4b-3730-48d3-96a5-eceb281564f7 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d36b5ee7-c5b2-4395-a283-ad5b4fff47c6 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a19a2ab5-6958-4c50-aeea-610f6407d50f phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8ab24820-6ccf-4f6a-a4d9-a61327986bfe phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:4eae5ba6-c60a-459d-b1ac-3db0971bad53 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:aac2ee25-9a11-4c3a-82ee-2d0f4bff9113 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a446b0d1-b8dc-4da2-852a-333e469fdab8 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:468dc1af-1f03-4eba-8582-6d3aa981a4c2 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:470a2e26-7b97-4cf4-98a4-2e009ae73d2a phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b9aebafd-94b0-4f52-bedf-43d898fc3108 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bea52c86-c38f-45c4-899c-da51a5615e9a phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:64b027d0-398c-46ca-9865-248b6432e4cd phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ff72d2d5-8638-4b13-8668-9c3dc5c275a3 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cd1c07b9-e0ad-4f59-8dfc-ba0333ab76a4 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d2d26f60-47b3-4fd0-aa72-b5cb683c4368 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c5bbf3fb-e26b-4760-8ae0-c5be0289b280 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:dcbe77fb-d602-438f-86b8-233f4f9f3d08 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ac74e347-65e0-4870-ad86-db7a7158263a phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:19eb5b02-9cec-40d8-aa42-fd8e5a35148e phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b972a179-8c93-4c25-ac03-57626b78ebda phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:19bb47e5-dfee-4984-9bc2-8881811382c6 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:35b99437-17e4-4355-a080-27bd28a4b67e phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0dfe99e1-ee97-44cb-9c13-b386dffb9d4b phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2c4fc2ed-aa90-4496-983e-27e5c0570500 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f9563f68-d0cd-4807-b30e-1bdf83db7f56 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:15c23cdd-20a8-4dc5-b188-325dbbae6204 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2f6a4246-e1b1-4434-8204-5e85301a563d phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:b6228dcc-71a4-40a5-9adf-f82faa286ce5 phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:4642c110-6460-44c1-b1c3-d00d9211fc0c phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b241b073-4e03-4f16-932a-9fa0e5986f57 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0f767cca-f26a-4e31-b42c-68b85469de7a phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:491c4aea-5da7-4a78-994c-ab869fca4766 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d590ca7f-63a7-4097-a3aa-8ae2a5205f94 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0de97ce3-ea4b-411c-9ecc-6c75a3a8cf2f phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0dc92329-bd6f-4f2c-8f54-cf8f0d847565 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:aa103e6f-87e5-437e-88f3-018ccc67935a phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:37389868-6dde-4447-8b88-3ed7d953a169 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b12367bf-80ee-4394-8bfa-eb5f6acbd7ce phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:824acba7-62c7-4529-a808-ff909ee91934 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:328347d4-2ffc-4957-9f32-30c6e5822faf phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0676f0ca-b8e4-4899-b925-c3241f5b5eff phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:10df744e-c733-4c0d-9772-31a28cabf8ce phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c0ab6c73-7791-4b65-98ae-e09809239016 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5a39c24d-56c4-484c-8e60-47d9d2763eec phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0d34c94f-68bd-42f9-af81-1c4fbb1cc464 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4eb98021-6e27-4a76-8d94-db25c4d47e09 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a53b80d8-433b-4c9a-9495-4ad0f97e81d3 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:61a8de69-4afe-472c-8bca-d427f99cdde8 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0ced7471-91de-4f9d-8373-aa0a50573c9b phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cfe79c82-3d23-49cd-9859-2757341858dc phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:34a8c669-c859-41a0-8240-f12aadc2b48f phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3fab1096-428a-4e90-9b43-4e9a34a06b7a phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e0aa12f6-056d-4f9b-ac1e-a0fe1151d62b phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9f7cfd0d-721c-43ca-84c2-8f0fdbbb704e phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:620cceb6-b3f3-4a21-a03f-291716f188c3 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:df5c1fca-8fe0-453f-95cc-9e81def9edfb phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d1979a74-0dc6-45b8-aa89-d3e213f53fbe phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5f3560b5-5fa1-46bf-800d-481a8b1bc998 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:de9ede16-57d6-4cd4-9580-237d892786ad phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f8deed8a-d9fb-402f-a338-d0c4199ffca5 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2d18af32-f6cc-4749-8e97-7df3cb9e7c43 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d1b8980f-7ff1-4f3d-ac96-f5e507b41047 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:25ff0ae0-3a89-4e68-9094-dd718e3002d6 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cb917d40-220e-4493-baca-6a0f927438ca phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0ce0b5a2-8c97-4589-aaeb-04c9dcb745f0 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6954937a-4c1b-49b7-aa4e-1e2e8e823424 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:37cf8c35-b7cd-4943-bfaf-4715ffd611a4 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:417138ad-4d4a-436a-acff-803f9b33e09a phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5510a4be-3293-4545-93ec-02f7175ed4f9 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9de46d28-fa2a-459d-b138-3221869e9b0c phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:e99e088a-0d84-485a-92eb-d205c90ade41 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6ee643a6-da97-4fdb-825f-30530626422f phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:e9e744b7-ab50-4421-858a-a9d58c906b1a phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b0a2b40a-8649-4431-b103-977abe49314c phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c50b5659-46da-4f2b-b619-df1fbc063d02 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0f7f55aa-90f6-4af3-831f-37957fe65e38 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bbe8fad7-77e8-4b41-a3ed-b0fc1770e825 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8e36c3ab-a297-483e-bd46-c2e4ed043d07 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:75ef3ce1-0102-442d-8239-35a719ba6cd5 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1987263d-311c-4006-ba15-d7e3bec532b4 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:543d56c3-85a0-4e83-952e-368e9e1dc8d5 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a4ac29b7-cad4-4cf5-b393-758c16f32cf1 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:edd8647b-601b-4942-8823-ac1b28c629b3 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:145442b6-577a-40f4-ac08-dda7af989de8 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f3bae93b-9cfb-46f9-8fa3-33fe6b7e78b9 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7d525dad-5033-4c18-bd37-1b4b12249eb9 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9d125925-3cff-4ede-8f43-53031c11a3aa phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:92b885cc-a1ec-44c9-95eb-42d9ed62bd97 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9c07ac15-5151-47ad-ba7b-caf0e871b773 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8ec92d9a-fd6d-4066-8dd0-e60d19848206 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:92bded02-ca01-42e5-98dd-f42282035fca phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:de61e17c-6ab9-4056-8e93-fc66ad91fa35 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2f921b24-dc88-4d37-a258-5af56f6c0ad1 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bd29ea3b-1a17-405e-a56f-709f486f156d phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:da5fb8b3-d782-4522-ba8d-95635fd3a3cd phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:87440898-1d62-4451-8429-4a3c9d375f3d phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5922d2d2-697e-4d08-ad43-79d4262cb0b8 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:e2008bfe-b6dc-4224-825e-af55f667641a phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bd9448e9-30ed-4383-add1-2ac1295a0904 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9fe03498-b3a2-42ad-97e9-5a6467db1d4c phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:8a2c8e19-d980-40ab-95c2-f67d3fe6b756 phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:03721915-6a7b-4fd2-bd6c-147e30d10157 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38991538 uuid:68d0a243-aadc-42be-8c6b-93673245be9f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:38991538 uuid:4ae4fa3c-8ce3-4942-82a5-8e54c927f221 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f817cdcb-989a-4bf9-8b31-91e58f432ad2 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d59a487f-69ef-412e-a581-668d7aaacc46 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dfc7ffdb-bb1a-4baf-b44b-99dbca7ab213 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7483d870-d7cc-4e78-8a35-1fa42133fa7a phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2156fc8a-9587-4b2b-845d-e9f37dc85c83 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:62f1d2fb-758e-43a8-ba45-9f234a3ebd12 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:258c8120-dbf9-45ce-9b9d-355dfa5edcd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:09550c0d-702c-40b3-8527-60641bab1ca0 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:de98607f-c148-460d-8a40-4a04b3e8fa93 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ab40b300-b47f-499e-ab15-04b497280f12 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3421c7c8-9593-4a55-8e20-b9b5755b33c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a2046fe3-be66-4f19-9dd0-ae08692af0e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:22d24da7-34ec-455e-a92c-8afd1612c3df phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5eb63f86-e789-4bed-a848-6d2fcd8bd6ad phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3360eb10-1bd0-4206-b56a-33c36b8f5ff4 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:400f30fd-47ff-49e8-95ca-24cc6d3be2e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0a1306bf-1472-4197-b0ff-eda65097093b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:788ba4f4-995a-4b32-b1cc-0bdd8ec7ee9e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb4f796d-8b16-4c56-9d68-1870c2ac1093 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4570be2-5dbd-4ac8-a78a-b55eceeb8618 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1bb81810-955f-4056-a0d5-8d93b4672057 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a9e32e3-267d-4f7f-8ff9-ee92c9bfbcac phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72903f18-7c4b-4a0c-a228-ddeff182378f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b98d8392-872d-47fb-848b-258093594392 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7412debf-2f8c-452c-9ae9-222d85fdc3a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:749544a4-7fd9-42b4-9da5-eea65c2f620a phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:051045ca-b92e-4ec8-a639-cfe3f74a3f80 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69c13658-5f47-468a-a4a8-92a8b627e335 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f5afa8f-2d72-4be2-b568-528d032bfc1f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25266c3f-0aa8-4195-97fc-94b606256bd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a5c5e26-5e4a-4ce0-befc-83248e43d9d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:642f9fc1-c1ba-469c-a281-95acadea7345 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:269995c4-2aa8-4366-b88a-bb8c317e085c phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3f9a5e1-c09a-4d05-bdfe-9618385a8c53 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:658d1752-790a-4823-87c4-a0ee604f6d3d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52be1ebe-d3ae-4232-9c27-4d3ef6c0dbe1 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7670f415-ee23-4923-a2ac-105f15e480aa phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff330a33-87b0-4d9b-b4af-bf8065507db0 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35b56405-54ed-4bb2-b8ba-2b8d4e320db1 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77fefe04-d4b1-4601-b3a3-d7b1c6b29450 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f795c76-2d51-490b-ba65-616582566edb phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64a6f0ce-863e-4763-8bdd-89c12c2508f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b08eb7d8-6e20-474f-806f-8fc74b6edc9b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3f9c4e1-5662-4105-bd42-683f04d46d21 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bea29a6f-063d-4411-8af3-b57d00feb065 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f08402eb-50b8-4db3-b8bd-4afea4074698 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d26d2285-25ad-40ac-a9e3-65781d7c23fd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:717c6417-1eee-4795-a7bd-fa27243f48ef phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ede499af-6812-4173-bf2c-cfa09a05c1cd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d96aa76c-6200-48ed-86b7-2402adaf9a43 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23872d4c-7246-4373-a920-8f81bf58f344 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47aa9ed6-fd9e-49eb-b64f-9301525d492a phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ee41e3c-f87f-4f1c-b3eb-62ad4bbd35a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:143df454-8f6d-4e58-aac4-e4dbbc7088f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f50a16bd-bac8-4217-8466-d2da931db932 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85b6cebd-dd86-4f76-a95c-191a35f9d95d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68b26708-7730-4cef-a2b7-f9944467e011 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dec8b9bd-09c7-43fb-b199-5fedc6d3814e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e6eb281-e2f0-4ae8-b56c-744b3c91dd9a phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06f12315-0f18-4c20-bd7b-27fa56ff4065 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd11a4f4-fb97-4861-b34e-20f4ea00149c phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:991268df-11b0-4ca0-8fa8-88ebde4017e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fc3a247-08b9-48fa-839b-f6b1ec736869 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad43f794-0f15-4aa3-a0e1-4155e5997b60 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ea9f6cd-62ce-40ec-90e2-e3b0097c6b48 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78ce39a7-ec66-4ef2-843b-1f25ab518406 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7465305f-ebe5-4fd2-b190-399bb91fa25e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c573ee7e-b4b5-4044-b702-5a45c3eda01e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:725b03ac-850a-438b-8c33-1d8a41afbdf5 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9158a421-e3a4-4556-9399-bcaafd26f8ba phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49c5151a-c4a9-418e-a51f-9a6bab1b317d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31f15f8a-87f0-4bb7-ac8a-dbbfe4be1053 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cff1ac31-f30b-443d-98f4-64250e8523cd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e66bf0f7-59fd-4a49-9846-d90c1ed5c7c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5339e326-21e7-4a8f-9b76-25a28962d78e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94ebba0d-bf11-4b6e-ac8f-e23341c737da phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5867568-cd51-4b6c-8d33-3bd4f98fc148 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf2d0b85-1864-46e4-a226-186d0c827e51 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c487430c-978a-4b4b-9c61-d471134d3487 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03c81b1a-a2db-4e1e-b1a2-2b0554cc155f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c1fe624-87fd-4e1b-baee-eed35c116b5b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16b336d4-71c6-4031-8d60-55c193a201c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38ad6680-7111-423c-95f5-3d160e059c95 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30a13d6a-0a07-47f4-9a52-67a7af1b909b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f931efc4-c82d-4169-8872-8843cd9b530f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2de97119-dbd7-4904-904a-5d01c1b08cde phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca91c829-ea99-40c8-af93-7ae3cee82a95 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8489cb6d-6d05-42ef-9ef9-9bacd5943f36 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0b711fc-2b6a-40b0-84a6-6732a0c558b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c7c4dc9-e906-4e35-9f5b-fd039747798f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ea98e68-a928-4a42-b2f4-3426310689bd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff0fb9fc-d10d-4c9e-8b93-01a480f0465a phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f89b6f0-655f-4972-a1d5-6d950b208163 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aeb0a786-6031-4ba8-a969-0929d1d03637 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ccb93d5-aaf5-480d-bbda-1ea4f2573d9b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52142d49-de4a-475a-8941-5667ece70d02 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42b1348a-851a-478f-ac32-73c6e99ac151 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8b0f6e5-9943-487a-8039-b1cf15408154 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d5cbd85-fc65-4167-970e-f513e19a79ac phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a9dce14-cc48-4615-ac05-06407331f6dc phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52dc1295-1644-4992-8687-a50ba6ab8d86 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a566132-4dab-4ed3-a53f-a2ff76b7401e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fabbc1b0-a77d-4627-b7ff-ad2570356d9f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec2950e3-a80b-4df5-ab37-2697617abdc0 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47fad1cd-f77e-4cad-aebd-9015206752fd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9589d05d-1da1-46b8-ac03-3936c752593b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8d6fe7e-d02d-405d-a82d-ac3b03baad3c phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69ac094a-bb3d-4396-be94-e2e51edf2519 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ec35aa3-bf1c-4361-b4cc-b14e952cf21d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78ec53d3-d7b4-46f9-982f-b4dc40bc4df6 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59f7c1bf-df71-4137-9313-7bbe7357c505 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6eb930f3-c19f-4049-a59d-0b7eeee056b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:478e9552-ca69-40ef-9189-1b62e620149e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad8fc294-b6d4-4f2c-9652-a09d4a37b73d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb02486b-d0cd-48a9-bc9a-e67f41e1f7d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b52ed319-607f-419a-b15a-adc7965a1b3f phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cece2476-baa1-4101-93ae-e45359b247dd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61a5b8c2-1ace-4ab2-a98c-ef0c57f0ef90 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:211af1ef-712a-42c7-acf7-439e31290118 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f449a83-dbb8-4bb9-895d-8ee1c4b1aa0b phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a61d6bb6-59fb-4cfe-a764-4d7b31ef2759 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:259a96ce-f3c6-48e9-b909-12e8df999a1e phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc48c734-4759-4bac-9474-32bbe134c641 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:412f7232-1cdf-49cd-9f21-46f73b99472d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3074d8b-5fe6-4f11-ac9d-115012a4254d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4fa7f08-3aad-49a8-a71f-f9814408276c phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5a567b4-9578-423b-bff7-9163aa82e372 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81edca8d-6845-43dc-b716-21122441d765 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29cbafff-b5ff-4be6-b7ac-abf8ae57a4dd phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fe1e0bf-aa4b-4204-bc0e-24cf2c27e352 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb1a68af-8dc9-4e05-93ea-cd100266ac1c phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:076afbec-fd08-4616-ba43-668423d3c4b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afe63a50-0ab1-475d-acc2-8e75623d0e18 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28da44ca-771f-4257-9333-5eb36bd7eb52 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89d5852b-e3f3-4501-93e7-f02d026ecca5 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d599713-4a14-4058-9ccd-0f290c40f7ee phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d9d1d71-b8d7-441a-aa54-f1af1e01e2d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a3e9722-9183-49cc-bc29-83e9c9f1a711 phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:682b969e-8dc5-4934-ad65-f790f7c9d34d phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:13a0f7a3-df26-4695-b329-9d45097cec51 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ecff4263-eab1-4e94-833c-8eb730bc6868 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0adef89a-42ce-4ab7-8f41-7668bbc4c2cc phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e74ee3b2-0283-4e47-866d-f7a8a839d730 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d78cca70-2610-49cb-97a8-95ab197954bc phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:68c71134-4d03-45b6-b335-30804f3455e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:490f6d83-b445-44fa-8788-2867cb6d436f phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0c97dc16-9ffa-44b4-ad76-7850e4a588dc phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:33b2fdb9-6957-4854-a937-0ac553125933 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:94250634-e7ed-4a1a-9ee4-18a0a81dc5cd phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7c66bd27-e576-4731-bbd1-3d9a1cf08e5a phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3a96fb8b-c596-4fae-abbd-5a7858f0c94e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:75f1153a-684c-40de-85c1-dbceb9a88c7e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3e7b130a-4581-40e4-a8cc-fab42248566c phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7062a41f-867d-4a64-9b30-0b0b814218a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:645041b1-2589-43e0-8e3a-120ea53cf8b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:83ba8b58-2be9-4cc8-80a6-44ef8fa08c16 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:20102f98-9dc6-4c4d-8bd4-f43a49773f8c phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a06b37af-4f52-4b4a-9882-9a82d7c62384 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b9023ff9-6633-4a0d-8eb5-c7170a2f96e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f40ed826-0b12-4270-84b2-2b7fcf5d1db7 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:03fb12cc-019d-4d2f-a4bc-e0b292895d1c phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:858ab268-7f93-44d4-927a-cb962e41e31b phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc850e27-c9c5-4c25-bb90-5860b47ba797 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbf1b03f-531b-46ba-837c-24b6e2b281f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8779ffcd-4059-40dd-adf3-b4074dbc9c41 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:741c1292-4e1c-45dc-a31b-8e1afbec6675 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84d40744-22fc-483a-8b60-8fe0ccb81ee3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:deca6ddb-765f-4c7e-b82f-d7f8215ded2d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e0e72b1-7bcd-416e-9e48-76a0834e1065 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cecb5fe3-28af-4c6e-8bae-6bd573b92933 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:decadc5e-fdf7-4610-9a9c-6df388a0bc0e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:947b67c0-9b4e-4aee-80b4-87a06bcfc745 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc213178-482b-4735-a83c-e65dc3ba6905 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f12dfdf4-a0dc-47ff-a4ca-f254b07abef1 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b30e8d12-eb08-4948-b521-03f383e3cb5f phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e2a89d1-d285-423b-b948-f976d9769568 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5458cc1e-6a65-443d-9b63-afc19e54c53d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67ba609d-33b4-403b-9baa-4db005b8a295 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0bfe3721-44e7-4ebb-9e23-458eac254467 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:570d3abd-8e5a-43b1-9a0e-df0af5f08e8f phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9133e83-e3b8-4afa-9afc-f6a6c923f341 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:716d515f-16cd-4c9b-b4b2-4ea1a327e41e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffafdfbf-df5c-4f27-b16a-6ad47e6a6b0f phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c071df3-0262-4900-b4dd-9aa298a404f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9feb0b52-f077-4dc9-9105-9529d52bdcd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b29c91fc-19c4-45cf-a4fc-e67740d8b47a phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6186c6a9-c89b-4a6d-ae33-49b859f033f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7a99f39-8f5d-4a38-8cb4-63379fe7c1c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79090a9d-4d35-4d68-a3e7-80d817909f10 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d06a3b11-09e1-4360-ad4f-a0fe1f30856e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4364a5db-54f4-4988-bc0b-07afaccde2fd phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75b33a99-558c-4002-9764-02abb2a229da phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a98b9827-2268-4c45-864f-7f32b71b3c0d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fb80479-af8d-4447-8cc5-2b68f9f491c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c8a0423-0f6b-4bac-bd40-695ae5747800 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ba38a00-3924-4d98-a153-c75c3733d9e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3183f30a-3213-4a68-b714-8052e3777593 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ae0e23b-778b-4da4-b99a-34698497f756 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a13b0be7-2834-43ff-b3d4-f8d6792345fd phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30cf2d97-b301-493b-8a86-4b6ddad78d58 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8f8a206-0c5c-42df-81b0-d5cd605951ff phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a64f6d65-cf3e-4b20-8efc-d1147cf180a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5a3e5c2-c6f9-43ef-9d0a-3f6b1255a66d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6864ab12-974e-4237-8328-6c6c34997e75 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:696dd88a-8a54-4fb3-acd4-8481e4df77f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3109d906-c724-4e63-aff3-5af174b5f176 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42e07c7f-a5a1-430f-9f3e-5704ea60b112 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:375dbfac-ff4f-4205-9b1e-36ffdeca1788 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6a27aaa-c7a4-4d2c-8a85-b2108680731f phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24186b00-3cdb-4962-94c1-b32aa6c9c78b phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6c1fb65-feda-4fbd-aa7c-6140215a91e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d16a71d-73db-4ba0-98c0-af61e858bbe4 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f0acb09-3c3f-4a5e-9131-f682a29c61d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28129c10-0b81-415e-86e7-462b9d51aea0 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b9d1b9e-1e37-45bd-999d-929134b220e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd10090d-52a4-45ba-b512-d0d5c9b6db87 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0c5a458-8f19-47f0-8480-a3c6b9e78d46 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:513772f6-ad94-4311-a130-172ffbbc14ea phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb0baf39-5988-4510-9f53-7937e7d493af phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf6cb74b-4bdf-44cd-92fd-faf40bb433ee phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e395a029-949f-4f38-bb26-a5c8eb1175b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9e534a7-b9c9-433b-a39d-b9ae04912c29 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b04448bf-c965-450c-bda2-eb4de369b939 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6a52cac-8d92-4f57-9eeb-38b5befcc17d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea672411-9292-4576-86fd-a5a37e69a441 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61579b04-a07e-4d3c-bdc7-a131c364729a phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:691eea32-fa90-4416-b9c8-cc3bc3876769 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c26c06af-4554-40fc-ab15-755e2c30d980 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ee592c7-e3b7-4947-8940-1a80564f7517 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63d508fb-4b6a-48d8-b5d6-d8a1efff2271 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e452c8c-0bde-4c45-9d0e-1d30ee61f3a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e60b517-3832-4c7e-bbf8-2ca689e07330 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4744a5f-107a-4165-b764-9c7302119fc3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c15d832-ae43-487e-bfa9-f64d792c14bb phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7cd95b5-d309-4f0f-82d9-d6be0dac1f1d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed5f5a10-a8c8-43c1-9bd5-285c040ab8dd phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c80c0bc4-5ede-45b8-8e98-b6ccb7aa7ea2 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3461662-d0cf-4011-9575-d4cfa9c017b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf1ef32b-9304-46e5-a502-871c66a51098 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abb329de-119e-4c62-b60f-021ac59f03e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac6ec29f-59cd-4670-9a88-bd9687829813 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3dce4710-af4c-4646-ad41-45449ab597cf phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c562c95c-c090-4112-bde0-8ee9c3e85cbb phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0771ed4d-639a-4ea6-8b84-40c27cc50b2c phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa12ea7b-625f-4013-bb96-66c55c2c8c59 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3cf4974-bb3d-4ccd-9bca-fe53e0c7b824 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41214e90-1193-43cf-bd4d-d163c48f311e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49d6a425-cdfa-4de3-85c8-63248ba94fbd phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b735edb-a66b-49a8-ad72-334662352622 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc0d603a-8d3c-423a-a4ef-b94f605e0de3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:557f5593-9b31-43f9-a6c2-24f0c484d364 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6793b75d-3b2a-44c6-a458-6a087a93a378 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80e949bb-25cc-41c9-b4b9-74ec762e3cbc phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22e895a9-b7ca-4c40-9c54-f3f2de8e41d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a0c6d4f-5ae4-46c1-aab5-5111a7476181 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:383e54bd-95d8-4ef5-9b15-5f9e0e08f098 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82dd0772-2052-4edf-abde-6141452006fc phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0577fe2e-97c8-43b6-8ba9-a27585dcbcc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc366c32-a94a-489a-a96a-141375ba4cf6 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce076024-055e-4bf1-982f-08047b49ffd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:507ae094-f067-45aa-a677-61a322af68e6 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:112ba8c1-29ac-4871-852d-38049606470a phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:060bfa5a-f8bf-4e1a-b9d9-065228dc3cc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c2a3115-aec9-4bda-8946-4a3073816f0c phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40abfd23-da42-4cf3-9a39-2e67a9c9f13a phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59811649-e9a8-4d5e-a999-9984639b64ec phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76156d46-b19d-4a33-ae7a-93cd14343a79 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db8f37cd-ff80-4087-b84f-e4cec925340e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9dae4180-9abe-4b60-ac0c-6370e1601f1c phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e39e248-5442-4644-a75c-1436c7ed64c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5f0d7cd-5af5-4cfc-a165-4eec11ac82e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acd29aab-1a52-4175-995b-2c3434d3fe0e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1370b395-0237-45f2-8c28-2d3028a95898 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fc7d164-f265-45d7-94b6-563c90551c1a phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38db890a-5ed0-41c0-bf00-621d30bbc69d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c511dfaf-d9f3-4095-93dd-84501041f92b phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d743921e-8b7e-4a6c-93be-c3b054207dab phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:593e7b24-67b1-4eab-8ecc-698504940ab0 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd3c77be-f437-49b8-b697-31893c7422d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ca556f7-d62a-4911-ba0d-7135b44e2c41 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28262578-4508-42b5-a020-940cf1a819b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16817d42-5f98-4acc-a54b-afa02dd51d4e phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d36845e4-c883-4694-9cdd-d155def0c66d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab14291c-5d0c-491e-b7c7-e6bde825e990 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b8e0f21-4805-4d4a-8cb2-487a7e4db6ab phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:21536074-b3d8-4444-b079-e98b653d764d phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:b777e37c-1382-4393-a74e-81a75ac0b0a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:e500c61f-e890-439c-b6bf-3aebd07c9040 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:38991538 uuid:f469fbe9-6083-4bef-aa90-105c9e660b76 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f59681b9-0482-4713-9eda-29bdc977f198 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:96067af6-980b-4e95-8acb-126e0d8cba7d phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1ff644bc-26b2-4cfa-87c9-756b3b03e2d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b70e2278-4f1a-4fc5-b56d-a35dc9058585 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:103ff295-fa99-413a-b735-63f0cf591145 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:14f57d5b-fc56-4d0d-b649-9aeba7de833b phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1ac537bd-41c6-4e4e-a3d8-10b592092b7a phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:aa9fec63-6272-4a07-a6e8-f32f4d83a5d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a060a630-aef4-4e16-a090-ad7563825b01 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f62179fc-2999-4ce8-87e3-79433b61f0f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f8247f07-209c-4e1f-a375-cf25a8612661 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7451f25d-f375-4a91-befc-3b22bad7b5f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:831c184b-8bb7-4147-80a3-bde77c09be03 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6b16ca8a-d80a-4131-abfd-bdc2e246a3fd phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:16719800-d0cb-4e98-8133-5df2417914d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c5e2b1f4-8809-444a-b209-292027bb45ff phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:64e8476a-e29c-4ac3-a8b9-a5d6082d0edd phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:660000d3-b142-4d15-a02c-2a0892191614 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c626fa4-e75c-4b56-a16d-6edb677f14f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c984024-481b-4b28-83f3-16a5f0f12b24 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d9b5a70-55d1-43cc-a0d8-f90181762b31 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c1b3648-7cfd-4767-b9ad-c1cd449dc381 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1873e911-8d5b-4d79-8d95-6fb9e7ae9ca9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e03cbe30-ae4a-47d3-8025-1f43e0bf0073 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:610b2c2a-b3fe-4c1f-935d-8a608f6b4beb phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36206cd8-2c35-4b97-93b5-4e847b14826c phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba94c9b2-1733-481d-bcb0-56505ac5e56a phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08ef8f5f-e0b7-425c-8334-10d15ec04829 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6852c22-77e5-4600-b291-3d01ff7971c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bda01e06-d327-4814-a6e3-f7f09e3f2771 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02bb6f2a-a2c3-456a-a2da-f8b196102fed phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1f20fe2-173e-4c1f-bdf8-b2226b3c2170 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9444eb3-8a0b-4717-8527-1659f40140eb phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f13ebd87-a82a-4a7d-bf4f-ab879a487414 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cc2b232-ffda-4040-9a71-d4fa901a98ea phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:237fe71e-6a1a-4672-b180-5af1fa31bdd2 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c01fe69b-35a2-4553-bec9-1bede0bc941b phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:648e933f-87fa-4d3a-8395-5c272552e2f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f859440-ebc4-419c-8536-acc39e956a24 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e414352a-ac2f-4e08-9415-d4fe9f35e135 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98003fce-09d9-40e6-8f18-dfa2111466a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65281577-154c-4328-a62c-ab5b557f6cf1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:894547ea-23ef-4493-9848-b71f840e3be0 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e00f3d16-801f-4d5b-bf70-edff6cf440ac phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33459821-0146-4a65-83d9-179793afb7f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6bdf69eb-0410-45b4-bd7f-3cb55cbc2759 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d9037eb-d257-4dfe-a473-f17f1b751103 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e717ad3-ae96-4dee-96ef-1bb6979bf56e phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d3b5246-2a7b-45c5-b91b-c4339a4fe6d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93359674-1aba-47da-87dc-b2b8cbbb9ca6 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5bfb49d-e0a9-4970-8772-86b1854c3919 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77664a82-839c-4849-a5cc-258a7e560b59 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6d08b7a-7fa3-4a0a-834e-4d58815b4b37 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fe58108-a119-4f02-8d7c-12ac6bec923a phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:348f72dc-0d76-4ddb-97da-ccd987b97bd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f183fb45-ee09-494b-b4e7-94b58469e27c phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7530f313-02fd-4411-a25d-409d897a6d24 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb3956e0-3112-415c-b4e3-4eedc5fcc7d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32e36c74-3222-4fa2-a3a7-43dcfb7eb0e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dfd8b76-6d70-4469-bdbc-ea2d6b3de338 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cce37a25-9b0f-4cd1-b576-7610789992e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95b0278d-c05b-427c-92fd-497eacc9ded9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f96485b7-192a-4051-ab17-b4b008dbea69 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a98b958a-157f-4271-8245-f789ffc990ee phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd61c8c0-0bab-4944-af8d-4935f1cfc9ce phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae32be05-5f23-4b2e-aacc-7706ef556d69 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5743e6c-0af6-4d88-a849-757822cbf0b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c26c830-919e-4de6-b4e1-9c923858b674 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ebc965b-d8a4-4bce-96ad-cf2efc1ee5c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c770b0d-47b0-4d2a-b0c5-ddaa0378e9f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c021125f-f7e7-4112-99fd-15c6a43aaa38 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6e4ad00-b9d8-44d2-9491-f1ebce16b8f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cc4eca4-2a69-4451-a638-cf089a244787 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e3447f8-7ee8-41fb-aebb-79e1a039aea5 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce358774-2703-4a76-ad69-8685921a1e23 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d11501a-9202-4b9a-8ba3-284bf2e69c7c phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:340c3f2e-ed74-4991-bb0d-f25c178bbcee phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb0c72b7-63be-416b-802f-59b01f55a604 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5dc61c3e-9a69-43eb-b95e-448e31593726 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0e2c642-2245-4dd7-907f-7cf76254ccd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2a00aa3-9203-404e-94e0-cdaa95153e7d phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3bd45da-e980-4f5f-9ed5-43e1eb0007e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:992c7806-5811-4816-8792-4d87c21de661 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d414a22-bb6b-4b6e-898c-b7f99a43b1ad phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c998d8a7-f1ab-4ba7-b3c4-720c484bc670 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a6af2d0-8296-487c-89a7-95c3271d4c71 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ef2dcd4-eb1e-4af8-95b7-f34ae27c64b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9161f694-4016-418a-9b06-f0f2ff9ca9ac phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2cba9620-98f0-446d-b08f-bd26e7577c7a phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0769ee7-1b87-42ce-b342-d92fe2d8964b phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:876996f3-6932-46e1-a1d6-8b913cfbe8f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:099000c3-e07b-4db4-8048-5b4359b28ad9 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1f6dfb8-fe81-4817-b829-ba4b059ef716 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e334d57f-064b-477d-9f31-cf2b9baaa96c phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab23f3fe-9d4a-49f8-a8a4-fa3720ec6d3d phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64819d9a-d911-46ef-b722-4213c341a436 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5ec543d-c86a-4a6c-89f9-1b4d50d82e05 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eeffc97d-3f58-40af-81f1-a6615bd8143f phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:013e556d-0a97-4fee-a162-2092a11fa4ec phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f526d9a-d9e7-4dca-983a-607eb776c005 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4e59011-3459-49ec-9aec-9ad4ee0d451e phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab9219d5-2db8-4c38-8323-bc96b9741125 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:421e156b-1cc4-4263-9858-96fb1a569bc1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc35db53-a0d5-45b1-8467-43a63dd72f18 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22d8386d-65cf-42f7-83d1-af3d57ec7f9f phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8a6e44c-d0b7-427f-831c-3819c3a1b3cf phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f7de85a-63f2-4dc8-b9f5-71ab2a52cc2f phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6bfbce0-5aa9-4eec-ae0b-d7cd20d798ce phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2142e658-f353-437f-b4bb-f69c4ed74261 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c071d4ee-72ef-4595-a3f7-76d3fa456d81 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e86eb37-983a-4648-8466-e077c6edbaff phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e31ea4b-d315-4013-a3a0-97661380d357 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffc480e2-e6f4-4496-b704-f46736be7108 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a15ad215-fb74-402e-af87-f84d2816bc65 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c42f6973-f4a7-40cd-855c-b2089e0fa15a phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85ebd520-be8c-429f-b6cd-ec9723940aba phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd255b45-122d-4c6d-8e30-7b78abeb19a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59e10fca-ce66-4894-ab8d-c35dd43f8eb1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2f78b5f-a58d-4231-bbf8-a827dc0cd0eb phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b881f2bd-4f5f-4ff7-889f-1d31356c58cc phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12ef29d7-6651-4e67-8858-829f03885f77 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08cf2ac5-e82b-4344-8a49-7edcbec057f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f25dfeb-04c0-4620-817b-428ed8331839 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86f0f52e-3938-45ec-bc32-0afba567a487 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:123a64a4-19f7-4daa-88a8-510dd1205506 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13d84087-8202-4592-b2f3-0ec2360eedeb phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acbc65b1-69de-4878-949d-a92d2176d408 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:60e179c4-131a-472e-a78b-9373c05a4531 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac6b6bf3-7754-4c64-803d-db9d401f36d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fddfb292-28ce-4eeb-a714-fdb54e3d81ae phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40a4d154-1e32-4071-8489-a45647e11c77 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ee0347f-4e48-40b2-ade1-5faf767d212a phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:efe3cf84-da36-436a-806e-72ae7ce49548 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a886f7a-1091-49ad-b337-62c1ee8eb7e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad7dc41b-2a85-4096-abff-3eb16386f544 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7d73a41-be39-4e39-88a3-5714f566dcbf phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57af3c44-d129-4262-8f29-afb40be024e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddb585e4-6f40-44ed-a649-1f39b2eff979 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:354e023a-3656-424c-917b-2e8f9f90a48c phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58bd98d6-c475-424a-a91e-4a077658cf14 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07469171-7c8f-488c-966a-86cf9e87a526 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aebeee78-b633-4101-83ad-5959317b9b19 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0409ffec-8196-405f-890f-e7292b0cf554 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:987f9b1d-b95f-4f68-8690-99066ffebb11 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d63abae-c7ec-4e46-a4cb-2658e1665c07 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b613ec8-dbfb-4955-aacd-1d17405b08ba phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f65d1d1b-2815-4c6f-9dc8-3d522ff02ed2 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a7f2dee-9d74-4c65-bc19-4db95faeb236 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b69c422-a912-4e81-9a7f-05d1f584c8f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1dc17957-dbf9-4901-95e2-43ca9cd72eb6 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d2e8393-cc1f-43d1-8b38-41ea3bc9c6da phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d5768b7-e6d4-4c14-81cb-74a3063e654c phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:e63b24e9-f910-4350-a77e-70f6825ea620 phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:b6e815c7-88c6-4eb6-a4fc-ef0e66563ff7 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:335f88c4-a95b-4816-a55a-77794346d0fb phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3feeb38f-e0ab-4eef-9a06-d41fcb39c7ff phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:46f8b8c3-96a6-49b7-afa6-35d0b3379134 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ec46d73c-7ed2-4e11-a0e4-659c56581893 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:da67a9f0-42f0-48b7-928f-d7643e9c9b9c phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:04f33943-5fa7-492d-8945-166533c99741 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:47fe9a55-e3c9-4c8a-8522-a42957348f02 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecfeec10-a5d2-4869-a305-415ece2fdd6f phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55b00e44-6243-49c9-ac0d-bc4d2492696b phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cdf3c256-5f20-412e-a44d-b8479c91e647 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85ee3234-5c98-47a5-ae56-34d9320b3af7 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:349d1e96-05dc-4d57-9c0f-09a025f0e290 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b1cd3b7-73ef-452f-87be-c0d2aad01371 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30d72271-cd71-4021-ada8-e38712b1796d phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c41b19a-ac02-416e-938c-a46fe56c1355 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b51a546-9c57-407b-814c-9f338e506b88 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80c4c442-baf5-4f20-b50f-5cfa3972b3e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a966e2ff-7c84-435b-9158-09c18bde8f3d phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32207fdd-f5cc-49c6-bacc-7ba2bada9733 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b93e0dc-65d7-4965-916e-a97a2a4eab72 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7ee6248-f2cb-49ee-b5f1-6c9bff9465e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0007165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d3c4773-9697-4b12-b3e8-58502a94e127 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e19b2bdc-1103-42fc-b6dc-500a1be0f4f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:194f9c39-7f8e-4da3-9068-d246721fad7c phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8d92811-5e97-4e9d-9b20-312313853e6f phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97d113e5-2290-4828-b815-b8251c055843 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:567b484d-204b-4408-9db8-156c0a99203a phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04460292-89ab-4245-a382-cc538ec2916f phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:098eb75a-ddc2-4734-a708-60cc204b2a04 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a253122-6954-49ff-8e23-63c20d548705 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ed9fa51-ecb2-4111-aee3-1f999c9e7c57 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba4dd06c-b337-49fd-80e9-0cd1c94f0158 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61db1b82-0284-44c5-bc46-2f62c062673b phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b69d4407-6bef-49ca-aed4-e4f6338d7b8f phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5dc9a51-24fe-4b6d-bea1-6ed74e28a7c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb94a2b9-1f52-4d31-bba7-f06b4963f224 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65870836-01d4-4f0f-9110-810ae35a1a33 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:286c3580-078d-4fe9-a8b2-ff2b3404d23b phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4fe3f5d-6eed-42b6-9d7b-020cbfbf571d phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be834cfc-1d5f-4bb9-8949-c2e3d87036a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fab34fa-16c4-4ff3-a24a-e5ac41b1cea7 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31c9060e-b7e2-4264-9dd0-d66a39bede01 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afaad684-ac3b-4816-a4e7-d8a30bf611df phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9f4b1d3-02c4-4f9d-b957-d16ed162e207 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1abf0190-91d7-4f24-8937-cf71662a9ad9 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bbe4264-49cc-4c63-b7d6-37c633739b4b phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52330931-e6b9-4d68-be59-ecdc288473d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6151c649-7c37-4ef7-8956-4c53a14f6a63 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40d1fb59-f802-4342-9e64-a41150b5fcc5 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0c03382-1aa7-4a05-a8d5-b10a29668878 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25f90ac5-b5b9-41e7-8158-ff1e3f7d8f7f phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:250b2d4b-b412-4f34-8b90-d1d4058283da phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c3a8be7-57ab-447e-9912-1f8f687d8606 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef586245-503c-4f19-a9d0-fdc836c63bfc phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8c2615f-1135-41db-a5e3-627fd89f3495 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ff273e3-4a70-41d9-bb67-6bf1aa395365 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40cc10de-a3c2-4281-a77c-af466b2b9e09 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e44c0117-ee5a-4b6f-8341-42f6dc797d1d phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb0e4b17-5a52-4e5a-8b58-e0f32884cd53 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:815f9024-b9c7-4884-88ac-aa06ae30df9e phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80682b38-c20d-4da5-940c-29c7bb4e75fb phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:596c5705-3872-4394-a6c8-b3cc1b467cf9 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:463e456b-5064-4a64-8b05-bf0ca2183dfd phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e68dc8e1-f44f-4712-bcc2-9e5aaad4ea21 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9956f2fd-b2b5-45f1-8003-ae77e6d1c034 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c13dbf3e-589a-428a-86ab-f2d17b5e83aa phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:946461d2-0a1b-4753-8bc3-808c8f1fed86 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02f4e8d8-540a-42fa-959b-0468358ab4bc phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8916504-aff3-4e44-85ce-37f7cc5e1967 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18d57787-9cc8-4a1a-bad3-9a772503e390 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d15b3538-df17-41f3-a870-3ee2f15b2dd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b75c1373-4f14-44d2-ab09-4cde88316093 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f4aa857-03d3-4925-af4e-c75aa0a686ca phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46c4665f-d2c2-49fa-92b4-e5cec0dfbca2 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6b94e4b-e9b0-4379-ad37-986b99b4a748 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6a7041b-243d-4478-82b3-5f8fd0e9ed54 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a66d4bff-5e4c-45f3-bdd5-fb662db8207a phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bfb8d42-2a1d-4a07-828b-c581a9868232 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f01b8ea2-0329-4f77-bb8d-404d8b25b87e phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:976ef809-a546-4b66-a3e0-f6b1aa8db5f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:379bfa46-7552-4107-8bbe-37493a6bb41e phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bd7fed2-6f1c-4db3-87a3-877e71f34ac0 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e220881-4e95-490a-b1db-6d37718ebfd4 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68344f9a-6a49-497c-96c9-6f52b7d675b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5bd4c958-a0cb-4370-a498-07faf572dc60 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c2a499e-5c01-422d-ab3b-0ba8200d86e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38363677-e7cc-47a5-b3f2-edb2f2f2e446 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c30de24-f317-4936-8523-3ae815892fc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e354be8-f9e7-4b5e-8b39-f0951b67ed72 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:511f4923-f234-4ace-b607-fef49b8bf3b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8482f02e-cc97-4cb5-98ac-8196aa380209 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa197748-505d-4a27-9c2b-ec9af3fa6661 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca9f5611-de85-4b70-9e1f-e6fbf0452868 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74d73dcb-1768-41dd-9832-ceac7f32fd66 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4428a2b6-aa9d-4cc0-a731-4a3bbcda6d6e phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d30f7fbf-2669-4d73-957a-e2c2a89d7c00 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5296d9fe-57ac-4e24-a3c5-34889918f89e phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03882faf-baf7-4951-be9b-d90ed142bef3 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1e31e32-94b3-41a8-8534-e2a41097cf35 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f56ed68-c76e-43e0-bc53-07c41355f7bf phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68b9d210-0844-406c-a60c-9651bc7b218b phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f56b5552-0a28-4856-8ca4-f6f740cc46fe phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c308ecdd-e080-4511-926c-b1ad366a3f2e phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82a18230-f90c-4353-a731-1bc01015d5e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3d2878a-7d30-4da5-98ab-d32e55263fd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df963697-13c0-41cc-a7dd-ed7a1d74f0b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8513c92a-02c1-4d80-9630-2d6fcb0a0197 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0e7b49a-2b8a-4255-959c-b4649f2d02c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed8fed7c-fb6a-45bb-a0ac-275c5cd3013f phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a467dac7-2ed7-422a-aa51-d84d68525279 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e6a3826-884d-4c8b-bce9-38024508b1c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:066f0124-7b37-4a58-a865-b7bff23c3a59 phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:aa8a5ecf-3fa0-4c23-954e-5e93ca421340 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:13756f9f-552e-44c0-a25d-c01f8b1a59fd phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:34a71899-d55a-483b-ac5c-7e5b574cd99d phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2e8a02d9-bc02-4e3b-a316-0ee5f028ca98 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9fed3c14-2463-431d-87d3-091652ee34ad phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0e9a5ff7-98db-4f9b-8c01-ee973c6d3c93 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cdcf8468-7814-4b7c-a238-96e989ad4eeb phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3676fbbf-5663-4efd-ab31-534cfb208267 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4b73e6ed-2047-4ef6-b551-77647b93068f phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4f651a35-f0f6-40bb-8e70-a233ce4de11a phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:701a9d93-2801-43cd-843a-fbb7a8460c14 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:deb008c4-2518-46d9-95ee-a89680b515ad phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d85a70cc-c41f-436f-8ce5-0e0712ff1afb phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:307eacbe-afb8-4e02-97e0-0c0e25a1f146 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c9e885ad-7fdb-47cf-8e53-4d909e02ce9a phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4a137dba-ec1e-4c31-8a9b-30245d36f371 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b7e63d30-dab8-4e93-92ca-26010b808621 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a79fe705-1b08-49f7-b6fe-b8531ecc6794 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:257b9a81-2688-4b2c-9b08-37f34773a3b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2ff184ba-1cfd-448e-902e-e5894fa51248 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:355aa30e-a503-4d8d-b1c1-902ccfe6cb1a phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0ac14398-f176-46ab-a1ff-1ebf871df967 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:782e43d4-8f54-4d9d-9ec7-0b4af7cf4566 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a298217a-3ed8-483a-8c98-c54c601feec0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:98335659-a23e-478e-b84d-111449e82f48 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5409c11a-b369-42af-8bb7-4344250f5930 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3218e5ad-c315-452e-881a-f535b7ed7080 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:93dc19dc-0b03-4f53-9a0d-77ff4d6e1bc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4e6c21ab-1df5-4284-b7a6-6084ad981d5e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4055125a-59e0-4947-b4e1-43eb1b27b39e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5838d30b-1cb4-4229-8fa9-4fb1717d6d83 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da3f81ef-2c95-4551-af13-8e16aafa1da2 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31ec6d3b-5f15-4b2b-9243-194e4bb1a0cb phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7dc224f5-9b45-400d-b38f-d6bade010ea6 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:020fc0a6-a85c-47b7-bc20-629b3b72c1f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f33793ac-7b34-4854-8c8e-fe07c557b2ac phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb6109f0-f123-49c2-a7d0-e20d95a5c794 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2b6566f-45ca-454b-a55e-6c079ba8ec2c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a2aed84-628e-4609-8ca4-f8d135deee4e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d47956c-92ed-4872-96db-bad4c85da5f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0189a2d-38de-48c0-a8d8-84aff2071db9 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36f7f1f5-b7b9-49ff-8964-68d56d0e9c0c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef55f2e7-f748-4fde-9cae-d600f1189741 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b7b9697-1452-4a2b-93b5-d541dbb534d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45cd46fb-2cae-4297-ad27-321aaccb14b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2a1aebe-110d-4c2b-b475-40b52ed904e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fffc355-0512-4d58-ae87-b44a685c2198 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdd90c67-d233-4915-b590-73d00c400a8e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7e69cd1-ad38-496b-95b9-3749a6622ac2 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37159c37-e7b4-4b07-a225-62bf53467798 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b848e50f-c0a7-41fa-a486-84c77e99e947 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e678b57-3d06-4262-9c8c-f54a30506e6b phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3d1ffef-a14e-46e4-bd49-5e54c8234afa phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f857742-5d92-4bc0-894e-3e91a558a101 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b8418c0-e75c-4fa6-9f00-d5f5f4c5d823 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66e757f0-becb-401a-8e87-2cffad4e3972 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:142211a7-53e3-44c9-8deb-e4eaf6f700f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01db3f5c-8249-455f-8f78-caddd9b9913f phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69df19fd-c4f8-4fea-a08a-fcef5c1ded17 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38c048b5-5c97-49b8-bd5d-35729247b62e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94c94f89-9f4e-40c3-90d7-79711c5b661d phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1d6c2ec-cfa9-4882-aa06-2be66b9c9a09 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77fc928e-2311-43fe-8d40-9695b0d6a4a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6cee0c9-58d7-499c-8e71-eb243edda339 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b794227d-376b-4dcd-9d18-e2346dd69318 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f6ec5c4-7a7a-40a5-bc47-ff666f4e5aa0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5e89d1a-c9f6-4f7c-ae1f-7f3d65212a1a phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:553c5c0a-bdb4-4ee8-981c-0b92f7b614e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5eeafb53-091a-49b5-8b90-d1765d44aa0e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:081c5d02-ff78-4465-bf4e-585b24917d19 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4ff7514-e3b9-406e-b8cc-1adac1d8d44c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06aee68d-c248-4f6f-a6d0-1d3aad44b451 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99f880de-d4f9-4796-a0cd-7f84084d3bfe phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eee4843a-b8da-4261-9629-d6b379a7366c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d6842c2-88bd-419d-ab04-3c7fadffda11 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d777748d-724f-42a6-9056-4dd646ec198e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6bb0358-a6c7-4782-9afb-36a9a83030f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e869395-017a-4d80-a80b-e2cb3e962ba3 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6779e7b3-1849-491a-b91f-9edca8bf9c49 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1efe4a85-660b-4ced-8c36-b722ba3dc08d phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fde9f2f6-1784-44b9-9651-c4eeff3736b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:266c77ce-f6b9-411b-bbd0-96d6037268a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7d935e3-9fa6-48f8-bebd-1d98df5d13b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:337ca01a-2ae7-4b28-9e81-581bc7c1296a phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aae31fce-cca9-429c-98cb-898b9c6a477f phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6d56084-716e-426a-97c3-6d6991c9cfc0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:579693e6-0f6f-4b77-9e4d-a14fce7e39e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d29fc5a0-3541-4d84-845b-00ed6594c6af phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7fddfd4f-7192-4a91-8389-78525217f86e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9085507-a8ed-4f4f-bbd4-e6b0f7dd7e18 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d72de14e-74f7-4824-b76b-c0407089e9ae phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a8fa9f2-98d3-4baf-ac41-eb6e39dc317f phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51d7139f-edec-4f84-b13f-09f36387d636 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8cce2d9-926e-4577-86a9-01b6786c6aab phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f05c1a8e-fd5a-454b-ad82-bb0d1a2e9071 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5efb1a9a-b4d4-4c39-b35f-b4a32552ce0c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93512ba8-6c27-4505-a87b-5ae765f3be0e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c41bf55-7a88-414c-bd02-dae06197cefb phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fef7a3a-e0b1-4013-a01e-02c56c20b4b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea7f5403-ba5f-48fb-bc1e-41a0d2fca7e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bda2155c-19a9-4fbe-91e5-24e76ab7983e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66a9f323-8af1-41a3-909b-3d313da164f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2deb4035-cc9a-4906-b7e4-7db670c0f6bd phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:577e9086-357b-4c5f-9e55-41fc720ab89b phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81fac054-d86d-4599-ae76-58a918081697 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64e48651-56cc-4d7f-b09f-ab51bc19a6da phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd0a769b-6665-4c4b-9bb5-2e3ff42bca2e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e62f63db-aa39-4bae-b47d-100f7aecebbe phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d224b083-cb9f-4317-b8a3-d7a217442247 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac86fc4e-0753-4e4d-b3dc-0f17511c884c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:100f9811-17a8-47da-b746-9053f6027515 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4eb79cf3-6b9d-4b7e-a191-f497c3bd5500 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:267278f0-d612-4f9a-94b3-27299ebfc8c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3007a0c-430a-4911-810b-e2d61ac8af11 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5071f5c1-3783-44b5-95a3-4b25dad025f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5801ed9-f4a4-4118-8c1b-7cb00e8278b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a1e2d0a-aa53-4a15-83f0-0503f4c42d4a phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cfd8ea9-b7b8-4b39-b931-4e7de68b335f phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82d231eb-7c47-4026-9c00-25bd356edc25 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c223fda9-a934-4f11-ab1e-87e04beb2f2e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb1415f7-f32f-4061-ac8d-19009da07e83 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8ed05c2-5134-436b-b3d5-198af6a4fa66 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80ed1ebf-0653-4062-9420-c08c4def10d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13cc24d0-7f74-4955-86cf-72e6ad8c1d4c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eabd4fd7-bcb2-4d29-a06c-d87f08f0241c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35b02d76-18ea-430a-ad79-a132dd7c0570 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42c29881-5999-4d8c-90ce-015e0be9fa9c phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e357e7f-f5ca-435b-9c38-df8e0c716338 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8987057-c6d1-4b1c-9b69-88568c5e684b phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c87efefc-3ef7-46bc-a5d8-ef159597d0e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa32d867-c742-4628-b47f-ba27d121eda6 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32449dcd-6dce-46f3-80e9-8ec182063801 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6fa269cf-953f-48b2-97a9-5a34d1073703 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c2410be-8f63-4a39-87f4-4a69cf588b55 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d51156bd-50bb-4e82-abfa-26db2dbe969e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4885a86-cc52-4128-88ea-5c245ef9539e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09731f28-cce1-46a8-a381-a0afb03bbc84 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:349ee62d-5fbb-4ed9-a989-c0584ea355b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5143bac3-6741-444a-9f6b-7bfeb4d981e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10b2fd57-1af5-45fe-abb5-9f917e798499 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c280a5c-6737-40e1-b785-0dfc20642c35 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f52df7c4-2411-4213-a1a9-1c41505a2243 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a486f7a4-8bc7-4a33-9535-2762652ba83d phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bbd1353b-fcd9-4074-8900-c662eef12fcb phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a68c4d64-1258-42ef-8662-3aee621ec48d phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94f23513-bdd2-4178-b6b2-9e85e78e44b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:292cccab-00c9-446c-a3e1-77693c90ea4e phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2e0b648-4e2e-4d2e-a219-dc3282eeb7fb phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47a8b998-8f7c-4249-a53d-83260a9739e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:430362c4-0a44-47a1-adf5-acd7441c7667 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b6cda32-cbfd-4edb-90b2-492af39a63a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:315a81be-4983-4f03-874e-58ddbca47092 phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d50eb10f-9b3b-42fc-8677-9570d8568d6f phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:39369315 uuid:685ee00d-2989-430a-a9cb-09763ec96333 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0cf64490-e988-467d-810e-48b8e5cbbd7e phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:92d6841a-bbfe-484c-9818-465e152dc80b phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:aea18198-dd7d-4838-9975-6f30e545e9b2 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:66176aed-f126-4cc0-b1bf-260e5ca9a69c phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2fcc9962-74d2-4652-bab0-976d89f1785d phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:85505f66-e609-45a6-a591-f27dea8e052a phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:eef6629f-10fb-469d-9f92-cec1a89ad2b7 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4f992561-0118-47ea-aa73-bbcad4570d77 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9624744d-7fda-45b9-9f8f-07258102e5cb phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cb45ca5b-7f45-4852-9dac-7b7ee3650082 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0632baeb-9633-4591-905b-c6e3f458bfd1 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7ccccda2-9b93-48b5-9207-bdc97bad1a87 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2cff02e7-2fd6-4fad-a41a-c94b995bdb41 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:dee8be7b-80cb-48db-9274-4adec71ff1a3 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b433a004-86b8-4e5e-a8ef-0d00f5ee9e51 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:085d34e9-e6e7-4914-94a6-efe0a3dc4f05 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a8d899da-fa81-4f22-bc28-3eac58253843 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9aa2a3d0-0981-4446-ad00-b64aa9f1482f phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7cde1f2e-785e-4455-b331-7ae83859edf8 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f8896c18-5e8d-404c-9839-b544e4f42c96 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4aad32d4-25dc-44ce-a9f1-d7dd3833c01e phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:6e41f210-cebd-4cf4-88a2-fd894fbf87e1 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ec0596ca-66ca-49b2-b2fa-6fa4af924cf7 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cee9ccfb-e1ee-4bbf-bc74-f5c1e1d7c2c8 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7c54ef09-18c5-4fc8-88cf-8531c99e3f3a phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f2449ae2-24a5-49ee-b1f7-862393f9afe9 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3018bdf9-6b9c-40d6-bbda-168a48266de5 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d2abf13b-4b2d-416c-a310-4dcd24f8a035 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:81cbec5f-4895-469c-864b-2198d9f9939b phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e0bfb203-7756-4316-aecb-70e2c8fa3a80 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bd44765b-03e3-445a-829d-d1439ed06c54 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bb013b94-ea9e-41fc-8725-078794ac31da phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0257627d-d081-4ee3-9e0c-39fb61dcb5a1 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b40b2ea6-41c5-464f-bdad-c8ae3c84f62c phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:6fbaef7e-8ec8-4909-8aca-d18a66a2d1f7 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d69cd3b0-2a77-4bf0-976a-42505e21c54e phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:54282d0e-5ffd-44d8-8e23-6c45f7c96dfd phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:20125896-9785-4111-ab53-a0ec17be92a6 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1e142c07-26bb-4d28-9e77-645b6a895f93 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c668279b-8395-4de9-a00e-a026959a54d7 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5862c99b-2fcc-4c66-ae6e-7bdcb029687c phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:64132f82-5e3e-4525-ac1d-f0da82501f70 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8659da61-68a0-4500-83c7-5ae875a42028 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:daf20f01-7aad-468c-95c1-b5e900610a0a phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:37520381-178f-44d2-b2cd-96067501e5f9 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c778738f-f444-4705-b452-6b24d725485c phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a1fcf687-4201-4d02-8288-6782ae046cb4 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f3c0a9e2-a520-4ed6-99c6-4e03db044f03 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c213b933-9e3d-443b-8eef-f844ffb3fc72 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1876f7ed-e76d-4214-b4d0-23328df0240d phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9b42ab55-6171-42dd-89ec-b7d947d15220 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:337d4e7d-dbc6-4a5f-a323-ce144922a144 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:90b0c6ac-3277-481d-9857-1dcf335d33d6 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:74582d83-b7df-4ff9-a78b-d541f4398143 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:67925212-5768-4a66-aabc-d6bdb40204c5 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:38d44681-3839-40c4-889e-4c2fe4510893 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7ddea1f3-fbd5-400d-bafd-6c3911cdcea6 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6d5bf34e-8641-4d69-863c-134b06807bda phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:238b9a98-0540-4ecb-a7a8-cdb82eb17c19 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:65a60032-5937-407a-a67c-751269e1d871 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f890bee7-d22c-49de-8906-692706be852d phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1d78966c-4385-43a5-97c0-40a03685b136 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:20f9c217-fb7d-4fc6-8535-c7e20bcdedfd phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ef09fe48-3df0-4508-af01-2827e6d5833e phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:4c6f8e88-072c-4c4c-a5d0-5b08f91f56cf phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a1c043bb-5767-412d-80a0-494a6747974b phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6f815e1d-f635-414e-93a1-ced1e019d130 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:65a710aa-4192-430f-b27b-bf77964b16f6 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9d8571d2-0ea8-46c7-86ea-2a2bcf64fe6f phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3e244f29-ecaa-4033-a61d-fd804ff2465d phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:68b2e02c-7c8e-41b1-bce4-71040c19e37a phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fa38a150-9ed6-431e-9882-6a5d132b21b1 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:537b9af1-82b6-4a05-a70a-06cd8d531831 phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:323531a5-dba1-491e-9389-60a437f64328 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5444d0aa-98de-4b2e-bf84-bbeb62a880da phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bd52dba7-e28e-4334-83e1-b47dd01710c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3e1b6dd7-808c-4a25-81cb-a8ee10be3a22 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5ee8640f-477c-49f6-8f34-eb756b022fc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:76ec80f8-4823-467c-b1c0-3bdb641bf98c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1282b3ea-67da-464e-ac74-b363affabaff phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:210ed42b-5da3-49c4-ab5c-8bf8ac4e70a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1a50b95f-7e13-45d0-8873-d827bb328455 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dbeac565-8c58-4cf7-80c4-d1c8d99eb4d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:58468abc-5fae-4e22-ba2a-49491ba6160f phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3509ef4b-0af9-4b80-8762-55a1332dbcb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8ffc0841-5575-4ed6-868e-4c2d331103db phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e7088f01-fdef-4a1b-9057-51cc24e037c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:111063f5-e73f-42df-b959-ca1a10272cec phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:526fafa4-b639-4405-9dcc-1dafeea5aba5 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0ae8e75e-e70d-4804-9ccc-7ee851fc0ed5 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4fc4d5a0-5386-4d5f-a761-f37eda416cec phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4f9c5072-0a5d-4f4b-80b2-ee989b40fa13 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f743828a-54d0-4269-b3b5-7e0a0026a66e phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00b3096e-7811-4968-b1b0-0a7d1cce2bef phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9c20cb8-4902-4024-9285-4ee4d3d3f27f phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00c7d79f-b141-419a-929e-d0176cef1950 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f4c83a6-1103-4229-86a0-36b0b581dc89 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:add943a6-9ba9-4ef2-a24b-ab00812dee64 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd3ad6bc-76c7-439e-953f-c7cc4bdf7d6b phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92ff50f9-a85b-4337-916b-439b62c64a6f phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c2208b2-8b1f-47d4-a29a-42b3102770ae phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba4dce97-02e9-4814-acd2-4724bf50d5e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c257c3e7-1dfb-4742-9632-8f6c887a06f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8e62caa-c870-47bf-bdad-5755047d94b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8966ac61-9db1-4740-a076-39965756770d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac83c58f-3119-4556-9849-29c728047ce9 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d4de0af-60a8-4077-a4d4-1505b8272c2c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbafd834-c03e-449b-920f-ca106865222d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:386e4bd5-328d-4186-bc13-6a0d3fa04525 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fd71c6a-ff2d-4e60-b9c6-fd8e5bba502d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e0318b3-d102-4d00-9297-727600e170e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:924f8670-542a-4946-9678-d50f322e8189 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c55472c-1a97-45d8-9aa1-d0a9434581ff phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68e76774-bdce-4890-81c6-97bdebeaf004 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd8c1c8e-c3a7-4faf-956d-9817fbe0a67d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6254c1e5-d230-46c7-b7bb-06490be6e3df phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:899efb79-0f8d-4767-b6c7-4ab35d10ee67 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a33d0b32-33ca-451a-94ec-874e496b1019 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b050e79a-1f20-4a8a-8505-4ea1ea363de1 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79d2eb52-8666-41cf-b38b-580a5853d8a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26bf4eba-5c97-4aa0-9240-1e14089e4dcb phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:826ce96a-2a9c-4440-96e5-0fb4787d950a phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3bb35864-feb7-47c6-9397-c7c4d418343c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:264a1269-9319-4d29-8505-90090752352c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75ec6823-289b-43d0-a390-93badfc3a6a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5f557a5-1a48-41d9-83d3-11357af51937 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:857bad65-b0bc-47c6-9ded-5bee2f4361c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55948a05-55bc-4f38-8612-a4d9bc6ecf81 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdf460c6-e28a-4700-a8af-baa89234e1af phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa24d0a3-deb2-4e35-ae64-c93521b96f00 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4030f152-8d6e-4b83-80df-e6b47a587aac phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09f3a573-eae3-4d01-a2b5-8a7a855cb334 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9b1219d-edb7-4e3d-994f-d35761369a15 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29e83d97-9db0-4f19-8e02-c6379a59ef89 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4f53888-8bb1-4d10-bdeb-f8b5baf43ce7 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38d84370-c569-4939-b052-035646faf695 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71febc73-04cf-4da8-bcf2-c09c2e0b2f18 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b316b48b-12a4-4635-bd93-a6b24c3b4765 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5eeeb3b8-e0e8-4388-b9d1-ecc644f0c70a phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bff1598c-b2c1-4396-b1bd-b279df74071d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:239d4eb6-9f75-405d-b068-95119e0be2b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f06ab16-a034-4167-8a85-2e1f84ecd41b phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b5a5233-5c0a-478a-a9e4-b3c24b495a7f phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:837b2023-968b-475a-9cee-99ca76461730 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ce4fe07-c5f0-4ac1-a2d4-75a806fc5623 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:983c1493-17ff-486c-97a6-2e32dd2ac64d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f866d32a-883b-409e-bc05-fd7ce6039247 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdebfca0-4a5b-4a9d-b089-37d68cbd0cf1 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cad52ee6-b2eb-41f4-9f5c-06545913e034 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1a577ef-ace4-44d8-af19-077141ec70d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81673673-a5f7-43b3-bedf-656619f7f663 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94c40f2f-6144-4d30-9bfe-f9060e559a91 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cfa635a-1624-432b-9593-b45776ed17ae phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00c96101-338b-4497-a963-8f9de7119108 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1249a1d7-a8c4-4a65-8812-98ed5bc50bfc phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba23cc2b-a3b9-4eb1-a59d-5230c0a43452 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c0543fe-c8d0-4eb5-b7f0-3dc4062db73c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c560e27-1233-484f-ae3a-e4ffd2fb032b phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:767aea45-4ac8-4e9e-953d-11992589c15b phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:864fd851-4d1e-4565-9174-f3e15fa72b77 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:249cbbdc-dae8-4fb8-9e06-c6c445ab421a phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64bfb399-4698-4e8b-b68d-18ba310a582a phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afa5baba-518b-46a3-a2cf-27117b11e12e phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7264c976-32bb-437f-a079-dfe5ee837fe6 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1119b82-5628-4fe5-98a7-b5cad9f702f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7284a3ef-c5a0-47a3-b7df-6d608909dc75 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4a829e6-7f5e-49ed-88c3-9314b4db87f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06b40049-2c22-4047-ae49-f3966285dafe phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd87f219-f5d6-403a-88a5-c948aeb229ba phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b7f18a2-97cc-4def-8486-d94b8c87f285 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9a31d25-cb23-44d0-9656-88c0e58b26c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d006749-a708-4e7e-bdfe-230ccf28daed phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07732d65-4427-435d-beae-819ccbc6a1af phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88eedc11-33fa-4099-b1e1-6c40ed60a432 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19cac8a8-6fa8-43f6-b06c-627797a94956 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e12e872-6c09-4542-950d-6f1b406c5ef0 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15aa8484-1470-4f81-bbb1-7d2581e8d01c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bb17f6b-71b7-420a-8d12-f002c70a22d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5698bc26-45ad-4db1-b305-126ffeb7488e phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d027b9d0-a146-4d9e-bd0b-04bf182de862 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3da1d510-9ddf-4c24-a701-2f6c6908c5b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:364962cc-7a6e-4b94-929e-1173b462a730 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:472ce5d9-681d-47f8-891f-9bff1621271c phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f5808f4-944d-43d0-9794-506beae2124f phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7462e314-2bed-43c2-b20b-f976fb823c9e phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c55573de-93f5-411f-bcc8-eecb1f78df62 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30b3c396-f38b-48b1-81f0-16ca80b993a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cae323a-d6ea-40ed-ae01-c753764accd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:476077a2-96a9-4533-88c5-c08e15e9d4fb phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:394c4fb8-8237-4ec5-a881-9b2b0dc6e60f phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f84604fb-70c5-4fbc-83a0-9a6675e8a326 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4052d6be-0457-4610-8635-d8ce6293458e phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4427d247-1b82-4c97-8bdb-6571c32fdc65 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8c6c561-a8df-4aa7-a017-d9d637598f5d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d85c747e-1c6f-48a4-b0d4-219036ce5877 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc962e41-fe8c-45fe-9f88-480eb7df4a14 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2eda39ee-28f4-47b4-bcb8-ddc376ae3772 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db8c879c-66a6-4e13-9d04-bb22154fe095 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:499e5489-8f2a-47f8-8b12-847036762321 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2375bd0a-b336-4b6c-b5b8-937259e199bb phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15f64bd9-5ac7-400b-b100-5b49b6ee4a47 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40ddec75-450a-490a-8ad3-cea729de6ed5 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:497e799c-2a10-4d23-98eb-4aa3cdd8bb63 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fcd218d6-97ed-42b8-b702-1fdacfdf8677 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f07edd5-a8e8-4f43-9c14-c87b28461f53 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac283b63-5ee1-40b3-b5ba-801a5738dc22 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44c87842-9032-4117-b16a-bd88e7cb3b40 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b025db3-940d-4437-adbe-d10de6e22133 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2afb65f-d8f0-42a0-b553-c28fe20528a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75ce9525-69c0-45bc-91e3-a3609d442aec phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16075b25-ad15-4a75-8e68-1c8eb9ae526d phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fabc086-6eb5-4d18-84d9-ff786e940ebd phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:149541d0-20d4-4cb5-b851-c339d1ff3a97 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15dc17f4-f28e-4b7d-9047-64a661eb7d4a phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb5565a6-fe5e-4204-8adf-35d731f7bcb1 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac555f76-1f6b-4378-b3fb-4880484d4491 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d942b618-f1b5-4117-a571-3cbc897ce9f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:701cb38e-7d46-4476-ad82-200035300be3 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6605eaea-62f0-41ab-8dd5-ac1a57ed5bd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be9f99e2-6289-4ece-b880-a1af93bf4074 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c1c1d19-8cb4-4e7b-b56f-7eea30f1218a phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d013769c-8786-4b48-9ae9-698f13f7904e phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0eda1627-3baf-41e1-8293-f31611a78cae phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55967c99-d921-45f5-b882-8ec2abb9adb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ed5b2557-fb5b-458a-b455-a5f6bf70c18b phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:36b7c52f-d21b-4800-b349-6e3edeb64156 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:38991538 uuid:045c0eed-abc9-493f-b4f4-0d4c8a9c2762 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:417445a4-4e8d-416d-b6d6-aa34b93918d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e787495b-c837-4c7b-9972-8781dfbd903a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:821721bb-ad72-4144-a034-8668b927856f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9fd5dd6a-3ee5-4c12-bd34-da9bafcc8060 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cbc8766c-9d18-4c6d-a303-e2efebcdd5c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cafa33cf-3bbd-4752-b0b8-58dd23f32311 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f390b96d-67de-4429-aa20-c6e1a4008969 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:beaf68f4-076e-416d-af84-f308dad425ce phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3e562e7d-38d1-4cac-9b5a-488ae575501c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:63e5504e-7f9e-4237-a360-20d69d7a5302 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b3874196-f196-4f27-8235-1285e7759f23 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c8e803ce-9006-4769-a834-37259897e46e phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:86f639c1-5b36-4805-bd1d-625a621e596f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7feb670b-876a-45d5-b062-a3f258cec555 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c24d8c1b-54e6-492f-97b4-9958906d3e28 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58db8eed-1631-4c03-bd10-65545a5881c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab14f829-f1ca-42e2-b8d4-0086c206a20e phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:992b8674-b1ef-46af-9a13-5d41380dcaa8 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b202d259-f878-48aa-b8d2-b5c27523de4a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96537a33-cc5f-4001-a8f5-b710f7b23562 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:adae7947-8108-4c08-bf76-eb681aa457b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:412f0139-d102-473c-b7c1-68cd22a979bb phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9db2c7ca-5d37-4a22-a0c6-84dbb5212fa5 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7296c7b-0ac0-4cca-a3f7-25bbdf895945 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3728d81b-14e6-4c85-85fc-59dd282f37ef phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0f8c991-8284-483e-9d50-7be47a996e38 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15cd3345-81b7-45d1-8457-889d0c603c23 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a896e909-324c-4c65-bf91-e83aaaa4c640 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94e6c612-5f87-4937-a805-5b9927c9f19f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d05a015a-cd87-425f-b6af-2435481ef60c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8405e74-c00d-485a-a5a1-0f9bbbfe08b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7eb7e307-6e06-4f7f-b496-27b76c0b6de3 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f23f75de-ab79-44c3-9756-eb737b4d4225 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49811e8d-c389-43ee-b028-32a207a6289a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:877a849a-6ca8-4a25-92ee-6d581f72d547 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97a11112-094f-4fa4-9a32-bcc2a4408f14 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae50039b-9e59-4514-9dc8-9bf6fc2d3c68 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f1be0b6-a1b4-42c6-9a73-aff1450c2a80 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bb2416d-fa3b-4f82-9d0d-f2bdd314f7a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86d2ce3e-6298-45aa-95f6-ee9edb44af5d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1838ad69-9443-4767-98da-2d61ad95a11a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea8227b6-843c-4c6f-89b5-cf8545f38c01 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c17513a-c823-4f2d-89d5-52b6d3cad1e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5071f7a0-40a6-499f-8410-fba669a9e788 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7244c76-7359-4bda-995d-2f54a80ee21d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4bd291b-4bfd-472e-8b88-1631e37aa21d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d46cdc6-db26-4c4a-bd29-3ddb99acd419 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a3c48c4-51c7-4e1c-a6f2-119c9c18a6de phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:add1ef01-5c2f-42de-89d4-182445bac475 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7fb37f22-7f72-4270-bdd6-adea158c55e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab68881c-1b6b-49e2-89f9-1fd5fee47f03 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db9df748-759b-4ec2-be7f-e7d402283133 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15818765-5950-467d-8a96-df915cd7c2c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95d323ae-85e7-4410-a1ad-2a6a993816a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44266668-ca58-4451-b096-7e2b8465144a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf9e1ad1-a700-4401-b790-f4d2b2393b06 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43a4965b-92a8-42a3-bf37-35f24f0a81ef phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd0ec902-5e12-49d2-944d-5295c7bdb34f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cef6354b-4220-49f0-862f-8c0cb32e0026 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0771721-bb53-4454-aee1-757f5419e4ff phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd4e934a-7322-4a6e-b3ee-20fce6648a69 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ff924c1-2836-46c7-82f9-16ed229bf083 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c28d9d4-8f84-4765-93a6-4060491b447c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ecc2961-b75c-426c-8498-7010044f899d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59468ee7-8594-4a28-b31b-55baf622ddf9 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12250833-a414-43b2-9424-2b203cb5cd88 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42cb81ba-7b13-4a64-917b-64f37df36e30 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e064323-3e9b-4fe6-9dd6-014483af9f26 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1cd73bb6-691b-4a1c-832d-5dfc8515b7ac phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75c5b6fa-b723-4b62-8c10-c2c270d0025f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a269450a-1077-4d39-b355-17bdf8f10cb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22895fb2-d44f-4178-81d3-bbdde3cbbca8 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a43e595-2b3f-49c8-81cb-1eb5cdaaef04 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10fd21e7-9d77-42a2-973e-f64b7b86bb5d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b06ca421-2e3e-490a-9925-6878f0c9f6c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:474dabe0-4d5e-423c-8bd9-87855bb09da0 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5458133f-3b71-4bcd-8bb7-c8455ada8af5 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7f2c901-cef2-4f86-ae66-c54d71393af1 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3f8f5a9-86b0-45d4-89e2-c34276b760b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:007dc2c6-04f5-4bd0-a2f3-4fcb33242f8d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33e8a1f0-e554-4d14-9cac-0e0088fd0019 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75b89f4e-06d9-488c-abdc-67205b5e8438 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:342b8b2b-55ae-43c8-8d83-9dbd91cafd25 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0fd29995-f474-4b60-bbea-018461b9c2c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:760fca9d-6a10-4145-a7c8-bd5c276804da phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15ee9230-b0ad-4b30-9718-5d878610a4c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ec2e6f2-e7e0-488a-b93c-b71f74ff55ab phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a4623ea-3573-496c-9bc3-9c6136f02800 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a19f6dfd-6d2d-48f4-bf51-54d2ce0c3220 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c8f1ad0-8a6e-4a92-a20b-4b0f8fea3445 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87e7b8b6-aadf-4f83-9f7c-409794108b9c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:411d4ff7-bd21-45d6-ad27-fc1c81cdc6b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3105e50d-97f8-4315-a05f-d7c2f87c975f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7dbee2fd-c20e-48dc-af67-544e7c93c67f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5230ab9b-4621-4234-9080-91e317c4684e phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:484f5b96-c167-4e29-bfef-b5c66bd1d812 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd41f8fc-9973-49f7-b63e-964ece8e6b9d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:febdfeef-d138-4b34-842a-1cb419953420 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64f50011-e570-436e-a0e8-a3e56ffedb51 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab750bfb-053d-482a-bb9c-4f6fe7a965fe phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:633bc054-0312-4341-9e77-585d525f98af phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9caa3e47-2ed3-4f35-a40b-727ff0afca3a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb5b3dc1-5cc0-4c8d-ae1a-414159b8e6a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1268ee5-fb3f-4d9e-906f-2be624f181c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d291495-b5c8-4a8e-924a-fe85accee19c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab0c64dc-14f1-427b-a419-c47614de0fd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ae65d55d-d454-4f10-b54a-0255a75e9507 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb90ec6b-e3d1-4e04-b850-b0eb31a17ccd phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7799cc8-4cea-48e0-921f-3d5478988fe9 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8553ae2-ca8a-4227-a090-b53f133b351d phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31ceb43e-5f2a-49e4-b315-d4cc335649fc phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cdb3f413-74db-4cd5-b99a-b07bca0a0b37 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d33439e-eae9-48ba-9848-2b3ac03089ef phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8d58acd-f98f-412c-be45-84b1d5efaf43 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3fbc91d-a229-407d-8c80-f3d218a986b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f81fc963-b8e7-4eca-a599-fe17f57ca03f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:531bb1c2-310b-4d47-9899-8ab31d103038 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7cd39121-3286-427a-bef5-d7b885745962 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34db6f55-ad55-4395-a369-8395f285bf3e phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78b18335-83a5-407d-9814-79282ce509a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bd1ab7d-8802-4545-ba5a-090d51add47c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:695d8275-16ae-4d66-b264-458ca90fa4c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f19607e-3e84-4613-bfac-04ed6ba65dc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80ac32fb-1c1e-4b17-babf-b79f33b1df4a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ef04ac2-3b11-4829-8398-a0608fea57a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ba9958d-2867-4258-bc85-e578bd577dbd phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1bce0866-59df-4630-8089-2d527c6d7624 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7ad29ad-23a6-44bc-ba35-e8ca3ce5d9bc phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a38521a-e081-4163-af86-1b0db6f9c61a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d2adf05-82f1-4020-84b6-fce687d66205 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65316839-ead5-4f29-b61e-c29bd3861310 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15209acf-7905-496a-b979-bc63093fe05f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:692ad0c0-fe31-4ca6-b874-a77e423e76c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c495ca2f-dea8-4027-8a98-f15677a9c19c phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b22a8808-bc62-4a11-a5c5-7401f80ff912 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41b60112-6720-4ee9-95c1-b4284a9fe5d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9005ce89-3fda-445d-a42d-19900f9197c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8dc61b6-eee9-4e95-8e42-93615749259a phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c06139b-89c4-4e98-82d6-e90823f3b74f phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:2ca35acf-9b67-4b74-829f-c7f5565ffbf1 phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:82dc6d8b-6a9f-4ca9-a8c3-f80cbf58f69f phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f460409b-8fb9-46b6-abf1-f17bf194e65a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9c2ef964-3e4c-4a34-beaa-3ca78e5f7d8f phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9012e76e-3847-4869-ab78-f5743a397984 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:28e0bc4a-dabe-4b32-922e-d999636b16aa phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2938240e-da1a-4acd-bca4-1525e9aee0aa phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:28b63616-bb7e-43b1-8b52-fa9f77025603 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4ae5e04b-f742-44d6-8a21-a12ac2b619a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:20045f65-c221-4827-b2dc-cdbf22157114 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:524cea37-8996-4236-abea-92f3a5ea1f5b phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8ade0bf9-b5c6-405b-8571-3145b57c1436 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3c2be40e-03d5-4b79-9d37-4162c30f7e03 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:40d0ece5-8224-429f-b2fd-d52ce1c5d973 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:db916a42-76e1-48f1-aa7a-167c94caeb8a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9b0720e6-5c07-4602-b4ce-e8aa484f13e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f73b13a6-80e6-454a-a253-2b45d2111e24 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eaf8693c-0770-45ce-94c0-850020552074 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a3ee274-b7eb-43c1-945a-25290baf071a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5916c5ec-a8f4-42fb-8d25-b1434d3b6001 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fea72e7d-3135-4a29-8556-49cd8a539bde phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f43618a7-7452-4e7c-bddb-43f08e336a18 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c974d858-4a7f-40dc-85ca-4da4c35decf6 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f56b633e-23ef-460b-a3f4-0fc2d695c226 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:838c87a3-ec2e-4686-a215-1706c38cb46f phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70e6f26e-9049-4664-ae84-5a72fea8c962 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29631ff1-d101-4f80-bcf7-bd1bf43e1b4e phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8724569-4fa3-476f-a729-58a5f723a9bb phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52bc4ceb-5941-446b-bdd8-567426487794 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:574c51bb-d469-4942-a93d-a3aaf85ae650 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aedcdf13-17ca-44c5-bd47-e77fce1f412a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be2dcf4b-d24e-4f8e-be37-2fbdbe7d1ace phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47e63fcf-7ad5-4703-8210-4b7db87356e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f539a016-1b67-41a2-813b-6b88de3d3d79 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ed8af44-3885-4f25-9c02-e299d2aefe89 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:753d3d3a-9f18-428c-b8bb-d9d393d3dffd phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99bf1f71-ecec-45de-bb40-13c2f66828b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b036efd-e161-42ea-a0d9-995afd34c421 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:516ece9d-bdc3-4344-8369-462c3d78d109 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac75149e-6b70-46e8-b934-2d10ddf611f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5119e0c-314f-400e-90fd-a7c789a9c07a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdcbb836-ebc2-4206-a3f7-2ed8c08df936 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d7c9652-0d80-4e6a-a311-495e261c2733 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:364d09fd-c661-4d2b-ac52-5bc55fc5e844 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4edcdd91-43bb-451c-9d12-d81421282b22 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7a54e0f-f252-487e-844f-de477960ffe5 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e80f9a5-ed0d-4813-9cd5-557999c6be81 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e720cb8-907a-48c3-9a5d-6c6592f79d53 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8b18724-ecac-4966-b67d-20020a30684b phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a001a79-8727-4b49-a1b9-121d810db71a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffd18196-fe7e-4a4e-a2f2-01ee1d61e8f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8ab0f02-4cf8-45b2-8ea0-67b576bbfc63 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49dff878-5dd6-4102-bfdb-f86e3834dfe0 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b8d1014-99f0-4f76-af66-7add7df0f199 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f91c556-2a8c-45f7-8a2d-f6ca106dc909 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:761a3030-f1d8-4a03-83ad-3b3c904d0d72 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed15dbf8-7cfa-4dea-a436-2f6f5b51e57c phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fff2876d-9dae-4b88-aa85-040e405d6571 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d91430b-0b95-47c0-beff-470638ef850b phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc3c8b44-e87e-491b-9dfc-1aa2701e992c phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7903944-e941-4de8-bd4a-8b9ffaec894c phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e8cde19-e076-4afb-aaa3-9bdca0f2b4db phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1987bea-5490-4c12-b733-f2c8f621112a phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:341586de-3c06-4c72-bad1-b9ccd84d4bc0 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5740fd6c-d192-41f3-ae9c-fde33fbd54e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ab2ce5a-451a-4761-a8bc-64762ef07c26 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8b37a63-1ec8-40b2-8d40-d936a6697c1c phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06aad62b-4f4f-44ba-b2df-690268330fc7 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c87262cc-28a9-4fa2-a184-f078f26bc954 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52a113e5-bba9-422c-beca-06aaffc620b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc3fe9d9-8018-489a-acae-61edf2b41477 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c109243-4f4d-45b7-a024-25af007a51fa phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:477411a0-e176-4867-8b2a-4ed3fe745567 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01f48d0e-a910-4740-ab71-9bdea11ac656 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f7b872f-5e28-4d9d-bb95-c218307315ae phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80fdc026-e5a6-4ebd-8980-9d1718e69c59 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac2beaea-2db5-4883-b9c3-5fc6039bf045 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d0b590c-b4df-481c-8a51-9c0f4afcf9b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a87f84c7-2128-41ca-b04e-f6609a969e7d phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f3d4fe2-cdc7-4f3a-a6d2-8e4dde2afae8 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:496b31fb-f917-4854-9de1-ae181b8989f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b0b026d-0349-4341-ad78-a4202784d434 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8b6584e-af52-4142-ba72-294c5e279175 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49ac7d37-6f1b-40db-a5af-4235b43d47a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:756ed760-13b8-4b5b-9c54-82be470e3cf6 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2865e4b-02b1-4b5f-bc4e-bc2401080579 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aaa18f4e-b4b7-4f2c-be60-f827fe35c1a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be585e40-2446-4e41-b0c4-05d971defc3f phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88002832-0180-4f0a-8498-7d2aff0b277b phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59a4e018-c15f-4612-a0fb-1d354cfa8014 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:490a48fb-5374-4cbf-98b2-016809f29478 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7ce0fc3-c6e6-4533-ad89-8281b6599aff phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b0ebe00-0bb2-4b51-9dd6-ae76cac46759 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb537a49-70a9-4813-a24d-040933b8bd42 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8aa9db0a-cd64-401e-86f8-ffe2d2079cf9 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ae1dd38-cd90-4fe7-86b5-f8b294db38a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c79be22b-cee5-4035-a61f-7180e53aee04 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de646e44-0cae-420d-82e9-49b10881699f phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:264c4efa-872a-471a-868d-ca30beeece51 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a9b3f57-fcd8-46cf-82ad-b90676fcfb76 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8c4689b-9807-4cec-a756-3fbf5ababd2e phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6231619a-aacf-412f-8cae-9797428860d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf6ad5a4-2c13-4353-be76-0cab8cecac68 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:264606cb-8748-4cae-b992-c6817c2c1807 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:730fb9c7-109b-4c2a-8b98-e87bac2526b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8da156ee-0514-48be-af52-dd2424489757 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:937edc75-4774-4f83-87b9-e9dfa31e3942 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:780c6f5b-c4a2-4c68-8a7b-645ea00ecfbd phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08e52f72-24fe-40f2-b3d2-31348b577049 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da39be6f-cd05-4552-ae8f-b9ac7fbbfa9c phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4800c9b-a460-4858-a618-6f1b9d30f6f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7848d9fd-f7c6-45f3-aab2-57419967aa46 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:513b2289-03c5-4ad3-84ec-4c20ac4b1f1b phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2d0efc1-3af0-4296-9a23-b8821589c5c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:479c652b-2123-41b2-a718-3b30c036cfb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8817da33-0657-4403-9769-f1020653e7f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aee1619c-17f7-44c3-a958-d34f44173577 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a12d0e2-1e3c-4509-8f8d-5c5427fa8478 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e39d6cc7-4066-49fb-9f7c-041629c6782e phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a78f457e-7a52-4f8f-b11d-8f02f0722b6b phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cc028c2-80fa-4617-800a-50cd98f17e25 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b47b89b0-81a2-4bf2-9138-0cbea727d353 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9388cb4f-8e1a-487e-95c6-cfc22dbdd9af phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fbf4fd3-dc93-47c0-ac39-fbce9527b794 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d05931c8-f618-41e6-a76b-5cf11dd90824 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a54d7ae-3dfb-44b2-a4e8-8dc75f19caa5 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e844dd1-b387-48e2-9f06-f0baa6670b1e phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92a8e53e-b6fb-4746-8e31-0d745cf583b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e342a754-9a21-4188-9e3f-d351b0d730b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0bec1a7d-5b66-4e18-926f-bc3127b67cbb phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ac7bbfe-5726-40ce-bd3c-d340ab68ece8 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b73f9f0d-af8f-4137-8aa1-df110ea049ba phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af1217e6-08d9-4059-a190-cd9ffa3946bf phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c14bd5a5-8f39-4e1e-b01d-1b2ad17ff364 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9bd05e1-8f79-467f-afce-865a9c2ff3d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f045cc48-8b0d-4136-a3c2-e2f18a274550 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54fd1ecf-6170-448e-80bb-f8b4fd279cb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6763e9f8-a89b-48bb-9e85-9235f769cff7 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eed839bc-0f57-47fa-900f-13b93fdd8233 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:646ef1a7-2822-4f5a-8109-281b1e4085a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b876993-e1a6-47f8-80d2-bdea9161df03 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a28be85-a269-4f92-bf42-69ac0132f745 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0cd0d4a-1988-4dbb-8782-bd13425be9bc phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2604f0e-f1af-420a-a66b-eb19306594fb phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5ef91dc-8fe7-4084-8cea-7e187f249169 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d64deed-ebc2-4147-8b3e-fcfaa558a4c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea5beafa-47ab-431a-83da-a645d2fe4e32 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fb9f61f-6811-489d-aa98-c021c5ddc9ab phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4795a8a4-249b-460f-82d7-ac63534c8ebe phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8c54b7f-c4a2-431d-83dc-7b218cbf9199 phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ec1ec49e-a9cd-4037-a840-36da3c85cd3f phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:22973c79-9f9b-428f-aa57-63bf181558ce phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0d62acbd-b8ef-4499-a2f9-81163b2803ec phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9e8e5bb2-1bc7-4a08-afc3-ce957c7f7fa9 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5da4fac6-0d16-4d5b-b03d-bde4653a9dc9 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:515395d4-63e9-479e-ac40-a846b8cd1008 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:45048b01-3238-4ec2-817a-54947eff1dac phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2d0ca0e8-0eb7-45d3-b1bc-9980e36f00ea phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d4f2e7cb-e45a-418b-8949-2dced6f2966b phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:625be2a0-6399-4d91-aff7-26260a766acf phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e2a26ad9-7927-4dae-8d9a-4cea68daf93a phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:609c8ce1-7f1d-4e8a-8a30-d5bab77a1d9b phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7455bf63-d40c-4499-9889-857b9d71d2a0 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d5230464-72ad-42d5-adaa-1fa0d1b009e2 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:963a1846-e1c0-4462-aea3-fd37bfe369e6 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d5dfa4b5-9a4c-4ad8-b759-5e7bd9f0d320 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4543c1c0-0542-4fe7-a965-d6f1c6e5deda phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0f1728c3-c4b6-4f95-af46-3bbe5bbab4c6 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b12d2e66-de5b-416b-8d11-afc1ef744057 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a34ab69a-9280-4331-a10b-4d4348ca71dd phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9a7df8d5-2280-4768-957c-857f014e30a2 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cacfcdba-ad08-407d-9069-1e0bad31e613 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:54ef48a2-1e5c-4fdb-b899-732625bc2b85 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b803bef0-d869-4311-be2a-97b5b4ae19a4 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:07bb43eb-5a07-49a4-bcfc-23de4851df3d phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:dd3cf6ec-2ce2-4cb5-b235-fcd88c6c26b1 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7f427dcf-96c4-437b-aa50-363ffe44958e phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a8067bb1-0e57-434b-ba5f-67af976e6a34 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:863c61e8-f71c-4422-851b-7b44180603e9 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f4d82274-4106-476b-8628-557b739b283d phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d8eda053-eb98-4331-9fb1-ac989a51e2cd phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:77d3d16f-5ce0-4934-9005-2d2f094141f4 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e444f6b8-b789-4a33-b2e3-53b9b2bad2fd phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2a5d1155-0e9d-4dad-b385-fbf7a3d21da2 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a4e7588a-ce08-4c84-8f66-810aa3514b26 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e709bc2e-dc56-4dc8-98da-f53dcc19831d phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:740d1416-3c04-427d-84f6-a894dc4c19ed phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6078f650-42ad-4aff-831b-eb0ccaa84a94 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c9ee1162-b346-4323-9562-765bf287efe3 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c330eaf6-4a85-492a-9fc1-072c6914d9de phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ec40ffae-fb63-41d1-a161-879082b0e3e2 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f10bddc3-8a76-4dee-8d2c-571d3affe9ad phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:29343457-06fe-4786-a12e-cb88088d3eea phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:843859c9-c5ea-41c7-9a85-75c28d371efa phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a2b7a191-be76-4e60-ab20-b6a3314813a6 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6859f8ba-a637-4247-b148-218e4e445cd1 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f2e0f3f6-328c-4e14-8914-42dba1f0a7f7 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cf3f6658-3f85-44c1-98cd-ff468ad429e3 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ebe4b378-3e25-4974-8d8a-0ecab474b58a phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3c0d2cf4-935d-40c3-9996-76a7db775b08 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:93017b16-635c-4c8a-b85f-35f350367fa8 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:954d1f6b-57f0-4651-a942-74b089421642 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c61eddba-31ec-4488-aa6c-e6fa3d6090b8 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9d168b02-6032-4919-9199-4f24560441f7 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8a2c3215-9962-4e5a-b5a8-07ee5d81a8da phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ba4daac7-aa40-4497-b6f6-9f6cb6edc5e5 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9059b61d-a115-4d75-b4c1-400d219b3299 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ddf74219-4137-48c6-9795-5511315797b9 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:83f36b20-0c9e-46d0-84d2-801e81bca271 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:796e0bcd-5086-4c4d-a833-fa52fcc1ac25 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:88cd003c-c8e6-48e7-ad91-96f5a6dd2170 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:48ee0630-6685-4d4c-a32f-7f5f91b2956f phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5d9c2281-a09a-4931-bed1-c1bad0b647c5 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fa5b211a-d15a-415a-bd28-2f864f885a80 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0f37dc51-7c4f-4b2c-a619-55d0535c2e91 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:46717e67-efe4-4a41-ae96-4c7c411b08c2 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:878f1fc6-4f0e-4b90-a758-59a4bc499717 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9706c72a-6a87-45f5-9e0a-971d0035f702 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b9255f4f-a6ea-4f4e-b408-bb03d11656fc phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5c21bc7c-6b92-42d4-8dca-6e114fc3343a phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8a7f8bad-cdd2-452b-bd75-8e36847e6596 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ce634fd9-9650-4da4-b51f-c989c13489af phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c4ee8cbd-8271-418f-b057-51a5e2207c22 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:d57b3b10-a8e7-41ad-829c-38de0d1195b4 phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:bcef3dc5-75d8-40c3-b022-49e3ceaaca09 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ac822eb9-517c-4e12-961e-099aafe3b3d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:97929200-0168-49ec-bbdc-bdf4bac72291 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a1932d9f-80be-4b37-83a6-b885283a5993 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9bb0de6d-0ef6-4701-9c0c-0fa74a0818a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ede6b408-f718-45df-ad36-35ca79099e54 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8d86eea9-acb5-4b8f-be09-a434277108c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6b94efa0-3d84-4936-9943-8ae8f6296e2b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cbff484e-86d3-4cc4-a0bb-a3beaa1504e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e8eac472-bec2-408a-a553-b015e8dc0c87 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:17b0a3c6-2519-48ab-9fc9-ce71101e9f5d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a0ced387-ac00-4706-8f58-21b37f675b91 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:00dec07c-af7e-4be8-9fe6-974481f7779e phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ae73aee7-95fa-4236-b48e-05b1fdbd3544 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fc94d034-6fdc-42ae-94ed-bdc045816784 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:30c2d3af-facb-4386-8bd1-612d30d14d50 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:25ac2349-46ef-4b2c-a631-4594efbaf9c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72a200f1-716f-4e05-a461-66301dfeb916 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52007ce2-f1c3-4c49-ab9a-2d99978d1e70 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97c2dc9d-4005-46ae-8eba-2352ad00db63 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9caf789b-625a-4615-bc47-067bd8091a66 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6096051f-8cd4-4d60-95c7-25e6be948786 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93854905-0e14-4f92-8601-e64af54c54cb phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:711a88a7-40a5-4b53-aad6-5b903f9a6e79 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0067ae5d-1511-4bb1-8014-e935a421489e phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b95e1fe8-5d03-4750-b032-a9027212c347 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1c9f564-24e7-4ba4-99a6-b71ad872737b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ec5ef88-14a5-44ee-b74e-07b3c1d2f5cc phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cc96ea6-7958-44f5-be7e-c2b1235dce2c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd02e028-efa0-4a64-9038-91d2afead8df phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e98ab46d-34d8-4f53-8194-b25894625f65 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3ff3d88-8033-442a-8f35-66f0feb7b5d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04f35d5b-b2fd-4ddd-9638-1653c01a56a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecdb04b3-3cad-4acb-8d30-52ef7c88b56c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66efc9be-3876-4c20-be2b-936227bf4794 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30db574c-6857-41f1-b3ea-8b8df545f79d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:113618b5-1614-490c-82dd-2a82f90096bd phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3268a78f-0b89-404b-871d-03b9feee9abf phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06bd2958-f924-49f6-8834-567aa2a045b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf8a62af-e312-45f0-a857-0c0a4a8c2eba phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85d4358c-2df5-4b02-8c1c-cb14069a2d38 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e925802e-bf9d-4944-ae12-403c44e4c43b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f0e62eb-6ac9-4770-bf7a-64700304d3ba phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75b9c97f-88e2-4d92-9aa2-6b313f96554e phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:054b0a54-e1cb-40b5-9ba7-c7c773b305e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b50b4ca0-0068-4bb2-b668-66ff0cdf5f50 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b22241f7-0230-4f5b-95be-b13a14246e0f phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9361b3df-810c-46cd-ae90-d0febc9929fd phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75e6dfde-481e-426d-b0fb-9b8ca1f81f48 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1869ef82-e281-4b58-a491-f66391ef062a phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5075c70c-766f-4985-ab74-e910badfa978 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb898e9c-91a8-4491-a3fa-875ed36c7b18 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:750f64f4-6688-4265-888d-ffbd01e5d693 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a0c7678-3821-41e2-9155-73d4126ed347 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d69dbf0-c387-476a-9fe3-10661fa30111 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c571645a-d458-44bd-8ccb-806939b33646 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8cf7476-2e4c-4af6-8a82-4e8baeacc463 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:145e4f7c-b566-4507-b681-f1dd3935623b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ef35ecc-6483-4dd7-968e-d25cb1ef5081 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:556b5c02-6e4a-4826-94d6-ea4fcfd801a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d672a9c-46f5-4c83-8cd3-7c0423c14e9a phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f937f1a5-43f4-4cb8-9970-25cbc68c9f43 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ce6712b-4ef7-4bbd-8ee6-5a603a264983 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0037ebe0-1221-4e1a-b962-7c0f322d3e21 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9500ba0-e3ee-4dbc-af90-381dded11a41 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50fa8f1f-67f3-4a6f-8574-f4453a303b5d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f025f9a4-28b0-4132-b33d-0b98bbb20b66 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c033cb18-4db2-4656-83d4-92795982dfcb phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aead15bf-cd8d-496b-b6a7-182958559379 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba8a5ac3-cf7e-4304-8930-464a274ec0d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6b960b1-2076-42c4-a254-56fc5cc10a00 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62422c41-debc-43e7-ad3c-d3f4fef9094c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10ecb273-4535-48c0-b925-ac68100f1d31 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:189c5f57-b558-4f9a-9d1f-6cbf6dec6eea phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0930fcd3-e30e-4ec0-a9cd-1faa567ad86b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3277b50-d005-4aa0-b3ae-29c8bb370826 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e63e1bd1-99df-4800-9172-87be998c8d29 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49ecdf84-8689-4144-9b82-e3aae6dd54f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a05d85b4-3ca5-4105-9a1e-1e611f1fc3bd phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8781d304-5b20-4531-be4d-94c461f42ce7 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3eff651c-ba07-407b-8b6c-eba79cbdc5b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b04e3124-46d7-4c56-8ef9-8733c926c11e phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1470371-9f34-41f7-99c6-d1e858154d85 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0eb3e3aa-3581-4e8c-bee7-01df4da80d07 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac2877a9-6d04-411c-b219-6e4f73ac7ecb phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:437cbe1d-0f7d-4c12-8fd1-fc8892cf7e22 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1035704-832e-4858-a595-03c299b13612 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3871924b-5fa1-4506-9bc4-fb1367faaeb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99ec3879-4bf3-400c-ab89-1e50c8086dc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49535ca7-e3d6-493b-b059-aa777ff63c1d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:699f44c6-eacd-4187-aeb6-81ffe8f27b88 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52800e4a-60ab-4559-9f38-0a07e21c8864 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d534b18c-a2d5-428e-bf63-c4ce31271bdc phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:371cec60-9ef3-4329-9680-34ab56c7664e phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5334ffe-7e7d-45ac-879a-5c08dea84592 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ed337fa-2c9d-4b99-a69c-73909be18a28 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c7b4103-a00c-455e-9517-0eceb97d7ffa phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1527d202-35e7-42d4-b47e-26743c200c4d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74611a22-4caa-4db7-b5b8-bb576deca6da phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ffec87b9-d60e-4079-888e-b4271f7d5c6c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67c2810c-cca1-4a28-83d0-34be5a5ca6d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab68cb2c-8630-434e-a8f8-9f040a9cb870 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fd029e1-5f33-4b3e-9f6a-4f986a8f8f7c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ec70c03-845b-4a3d-977f-485b771d3309 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3baa8b84-47c0-4600-85c7-e08d2a9ab716 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0edec08-2912-4bc3-a012-062431770ae0 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf7b31eb-1b07-46b2-9081-588fa09248d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9e887c0-e736-4b92-9c28-8fadaef51098 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b12b0f5-0434-4dc9-a369-01aa1efc7b81 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc801120-c9e5-4728-984f-88d30a750e19 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81b0ae82-c5b7-43e3-a2eb-6cec4041700c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6952d726-243a-40a3-bf33-a85f584bf6dd phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a88279f-3d69-436c-a852-96bb05e6d84c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0aa94f2f-08c2-4cdd-9433-8c43a9b8a47b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0e5d77f-5977-40dc-8a0c-b670648c05b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ea5a6fa-a844-48f6-9a0b-acfed86719b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34078028-ebd1-4d72-a2d6-9cd9dc8634b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:991466e7-5ce0-4812-91ac-f6cf6c53f1f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9224233b-9ac0-4656-b637-341824bbb0d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d38a7fab-684c-4ee7-ae46-37f2f444074d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77941f91-86ff-4907-aa7c-4a84670a5af1 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:937ca6f3-9e30-4906-8006-6638cb1e913b phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b0b83a2-0d8f-43c0-95e2-4859c8d89b3a phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16258e10-149b-4c60-b2e8-9bbe0899b384 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56681ab2-de1f-4c4f-9af9-4c2265c04b4a phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b6d80b9-1c89-4b0c-9aa7-4714db60bb3c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d3e3acc-8c95-4eb3-a13b-28c5c27dc789 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be229323-bda5-466b-a2d8-48a1c67a8b7c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2e3db41-393e-4aaa-b41d-ddee99726c35 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ac999feb-5d25-4278-b38c-780c2b3cb912 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed966642-8144-4a71-bd1f-3e014a6e26ea phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3fd117b7-fb7c-4b00-9fdf-d476daa94aed phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5da93c2-6091-4533-833e-462d54b828ba phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27e44d25-8257-4da9-9ee7-402189d7cd9f phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c887269-bd07-42bc-aeca-57c32e69548a phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d06fab61-7ac0-4afd-a796-dc4d32a363d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa991aae-243e-4980-aa04-d68dfbea4afd phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba271dc9-e40c-4818-af2d-4bcb8a98112a phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:791d65ab-988e-4cb1-8d15-86d089f74536 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c277b5b0-0422-4722-b44c-9d69cf57567f phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04a36d4b-5938-41df-9da7-9c063d15faa5 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f73af138-96b8-4e52-9982-b50ad0b96789 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48e719c4-a66c-441a-8016-aaba71e3d752 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6df1e7a8-c0d6-4bb0-8362-4e2916e91b5e phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0fd2a2a-7e85-4f7a-9351-42c2dd1626c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a524ee3e-6457-4327-b117-24eb0e6e48ba phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3d5aa98-098b-4aff-9f64-f45a6e940cb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1104d286-2ea0-4247-aa3c-83ea6886aacc phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7b43f76-430f-4301-a47b-0fa099064f0c phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c761466-a730-4e10-bc4b-06b41240658d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:1b61bfa4-1702-41df-993c-8137adb2b11d phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:5956c5da-2693-47de-9c5d-fc998b29a0da phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5c6207e9-b105-4456-886e-1db62f9d3228 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9a01866b-e960-4120-adee-3fbcbc53bce3 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5a1cbae7-3a68-4463-b2f1-a12716863ae7 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:576bf160-a036-4315-ad6f-0ddf227ac7d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ff58deca-5d13-40eb-8769-b2d6cea23d53 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1cf6b507-6f81-41c2-8b06-dc5731456451 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:384d4ad2-4a22-4132-8eba-f218dbc7f1ce phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:67fafe4f-d57f-4004-a1dd-b78db36c4bc4 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:71c856d5-cbb1-4408-b207-1853e8624bd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:53ce4d73-f408-4c92-ae9a-f1d9f878a5e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9694fddd-e4a7-4e0a-af8e-38ad3af4998a phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:135a95bd-0604-4296-89d1-bc2880ff4959 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:74be9ace-adec-4f1d-bbb0-262c496db7f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6bc00009-5ec8-41d3-9964-077a8799b700 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:888beab5-c222-43b0-b051-df4902c8b29a phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c422d36d-daea-4627-aa22-2e2ae0624986 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:96e08d57-e5a2-4427-98c1-a827d5468874 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3af5a268-669b-4c0f-9630-38207836d9fe phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2aad75aa-e753-47c2-b106-d5df9c684145 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:76cae568-ed4f-4670-91d8-3d80a48bbfcf phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a53e923d-acb7-46ed-b197-7914049c9722 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9525908-8eff-4172-8263-ff8699970c64 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0f20ae3-8b69-4191-8b82-c230568cfedb phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2b9ab2b-c1bd-409b-867e-c7bfcb2f7b23 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af932d76-c4c0-46a8-90b3-e48fc54faf76 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:844d77ed-3c47-41b0-9537-000545825d3c phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d85c295d-d52e-4e07-a01c-d9a709565b0d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0df300a1-d48f-451e-9bca-a692eb2dcfad phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2eb9a23-892b-4ae9-92d6-5b104d8c97f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f6e3a78-c39c-4f69-947e-a82397815099 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86920697-4caf-4833-82ba-5cfc539472eb phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:435d4ab7-2c95-4341-9cc1-0dc9fa6a36ef phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:057cd39d-5f3e-4a13-af4b-70acfc76a612 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ff97f69-60e1-4bde-9e20-60d7bb747d20 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc46a5dd-9a06-430b-a4b8-84451c851186 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a323a6af-4db0-44b9-8091-999664c0b04c phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22529427-0d71-4b12-8072-8a2dcafe7036 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:364a9496-524d-4dd0-bd85-9fec232c8d8e phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e31166d-2263-4da9-a85a-9c00110ffe03 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f039811-20bc-429e-a153-4f0461104869 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4850a6a3-f728-4e06-bb24-ed82cdf21594 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95ffbf80-9b57-4dcd-9b73-8da836a461a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6a8fdb9-4929-4ec4-88af-50efdb2d4025 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c423d47-913a-462a-86f7-baa31ee82402 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20c5d20d-cb85-4605-bf0a-a3b3f02ebb18 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c67dec15-3ecb-4ccf-812e-f56570d22c0f phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf2863b9-f202-4786-a749-2a10ad693995 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddd96049-bca5-47c6-89d4-41756c673786 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15114388-9039-42ab-8ff6-e79467860f5f phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50324e81-4559-462e-9a82-a1b599d42369 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be035a4b-839d-4203-af0e-b3940839ac83 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29f0abab-46b6-4e6e-8a64-2473a7ce2fd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf189886-376a-4e61-96e6-40f3cede6664 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09c66b5f-d096-4d0d-bde4-2a81c1aa8347 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5304a24-9a1d-42c5-8ae3-8c3337a43a3d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:578ad95c-363e-41a5-b6c0-dc1d6320db9a phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0b24bb3-480d-48c2-8820-21669350039e phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1086f6f1-ddde-4de7-8c57-091e56f59c1b phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ed0c7b0-7b27-4df9-89e8-52fa9cb9eebc phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82316183-e74a-4de5-9b62-eb4f11f28d11 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:445cd43b-1427-408d-8ccd-4e03c2843f97 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d863eae-dd4b-4cbf-9261-cdc48476a493 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26bd2a4b-6859-483e-93b7-05c5d2596a59 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f8e7aaa-9ed9-4528-b3b8-4834713086ac phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5058890-c059-428f-af24-a4ac65b12f71 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d635f7cb-013f-42bb-b2ee-68db294c2524 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13e7136d-9e02-4eaa-ac53-c4f37115e4df phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33b98564-ae7d-4d57-9bc3-c468981be533 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ad29bf3-44a9-44b8-812a-eb5465ba892e phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71b4203f-5f3f-4316-9a9f-4c1afae1a8c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa6b9654-00c1-4b1a-9db6-2347472bb683 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55c849d3-a2eb-4b2b-b965-86d4f8cc48de phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26afb2cc-d9d4-4730-83ff-2da0c628f12d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1f9f645-59ab-4e0a-b492-bdcbbef53d0d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cac7ba1-7916-4c52-99c1-4f2e6ff01194 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5945753c-888f-42d4-bf50-64e2825f0ed1 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cea0f2ae-3265-4e83-8faf-5e8adc727137 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c845d7f0-d7f3-4498-ade1-59705c766769 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39cadee8-6254-462d-8a32-0b1178b399b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f182b0e8-8295-474b-a7e7-3ca6c8fc1bc8 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cdff6ed0-44ae-48fe-a886-ce7b5a6aad12 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3102dc4d-1704-482c-bc4e-814422ac7e6d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:213c6001-734c-4478-9c7d-8f4c003ed6eb phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b98398b1-149c-4976-9170-9e1184e15f1f phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1e520eb-a43d-4186-9c61-4ecaae177224 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f60ed6b9-fe4d-4734-a7dd-03ab2e2d2b90 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ec4d762-5b24-48f6-b608-07a6f2272136 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5584be4-6cf1-4708-ae8d-2d96bf2122d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a673b3a8-42c1-420a-b695-66bfc16f080b phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2cf12788-d3a2-4c49-bd3e-3870167b51a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:098aa59d-f601-430e-9b6a-5ab82763b320 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49eae70f-060b-4a85-9c7d-1732dd8f45c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4c08cf7-0373-45ce-8d53-bc9edad84c0c phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d43cde8-5542-4660-877b-2f0b1b1b62b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ce243d9-f2c3-4e5f-93fd-01e3c1989b87 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7f4f783-80d7-42c2-b92d-63e2412615f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:109684a4-868d-452b-af0c-5e5f9b078e01 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f75a46c-c497-45d6-ac96-4f1377ce6fae phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fad27f5-5534-4ba5-a59d-a6ef8c3b44b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:562459b1-0cd8-4ed8-921f-bc02e0feacd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e16f4e16-0f79-408a-a099-b73c36d629fe phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b5205a1-a46f-4711-a64d-a1b307162b92 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f3d0cdf-58e1-496e-8ebb-da2f1bf2eeb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e429fde-5f53-405d-8ee1-3279c1ef1115 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6bc6e9c-65b6-48ad-94f4-904f6eca1cd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:adfe5391-66dc-4e82-997a-2bc74d141edf phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:138b2dc1-081c-439f-8a34-4bd1c17b07b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3433e86c-327e-4582-a70a-a78ff0abe336 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53b3b555-339c-4f8f-afb8-68dd1db7b1c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4411771c-fd1a-4589-b5c3-3f508b60577a phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32468409-d454-430a-bc84-b8d43acbdbe6 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be6259ae-7494-4d33-bd04-061f6a57c10d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d700b2a-f203-4b9e-852a-1274735471d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c7f05f7-f51b-41a7-9961-55caf669168e phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51ba0b6b-255b-4c62-9ee2-2fac165dda8a phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81296dad-9e91-4e88-946d-b609a109b48d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03cff570-fa57-463c-913d-6b1634a4f0b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acbf1491-35aa-4f26-91de-54f7a0e9e1e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b123cc66-ac60-48a7-b329-c67d2e592a14 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:047fe9ed-01dd-47fc-ba3f-f6e57d581ead phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:303c494f-0c10-407a-8348-7b964a22534a phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:577859c8-2a1c-4043-8f9f-d90b3099c880 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b863756-24a8-495d-a8de-faace4cb47c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72dbc9a4-2ae6-4d0b-a988-991341febb03 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee29f8ba-85b8-46ba-953c-b413d0c906b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c43f3081-d545-4c4c-9af9-5444e3903060 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:156163fc-23c6-49db-98ad-b8bf8f18c1d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3967147b-3f3a-4175-80e5-e2824c26b1ef phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d822c808-50b4-4a97-8984-6d98fe0d8094 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7141040-8ba2-4068-af53-cf7389843ab6 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:008437c1-f997-4b86-ae7d-34fb4d05a43e phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42e11a07-85f1-4eef-aa0a-5171ea646ca5 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a792d9e0-eff4-4ca7-afb2-5eae558fba4c phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d19bf916-5a63-4c34-b227-eaaacc8ae241 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:053318eb-2306-40ff-8c0d-f9c3fa7b4ee4 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9658b50-8817-4873-8b09-40912d8c3cef phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:26b1e2eb-b447-4e3c-9933-38f8e3276530 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8433012f-38fc-4787-b014-58a9745fd08d phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e4157b8-19ca-4a2c-8ede-b3463ecaf721 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cbe5c4c6-1d45-4a02-a2f8-df34955e9808 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d068f74-4329-4dd4-8e6e-bd4e5157c4f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0f98dbf-c9a2-41f5-af5d-3c180c6e0dda phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3387b634-5740-4645-800c-20af0e351e92 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b323414-99d3-42f4-a2c0-9cdd70d5f2b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:565d6966-6a1d-4fee-8615-5b749be85df1 phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:dda3e692-1326-4b2e-a9b7-da4009291bca phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:2a9b0c9a-99c3-476a-80f4-c7f5e2a8872e phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:4fe6cfd2-12cc-4058-bcfe-165720db0c91 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:925fb9ac-160e-43fa-9a89-aa155f6c7fd2 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e0df21ba-4b3c-40e5-a22f-79c7455ad297 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6167cda4-e353-413c-8875-ac61dbb8aa34 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:71979c3b-c437-4c5f-abef-9cb064614eb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0aebcdcb-95bc-4835-b7bc-7822885bbfb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cae0a5b2-6742-40c6-aa7f-3a8c380831c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d1a2295d-6e13-48b7-99b4-6121e51749bb phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c3c860d1-bd07-4c3f-a8d3-837e5473ceeb phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:48148bcd-97a9-41b8-85dd-fe7450503845 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:32172c66-1e34-4f93-9012-3bcf6c4fae43 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ee533c4c-e35d-4b6a-b2cc-11ed2b2684aa phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a6b79e64-b97b-4652-9158-f2b69e6f61ea phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6affbb95-47c3-4cd6-9875-cf6551814ebf phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ee3b9cd5-8cf6-4d37-bd3b-d02f2bf5b3af phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1153e50a-d6d1-4dc9-afee-791e652c1cfc phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6ffe8ffc-cc50-4d4e-ab0d-cb39effc605c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a9da3925-0ba2-4a39-a1e7-f5346d52a969 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:29bc6c1c-3f08-4ec8-8fd7-61ebae2d7fe5 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:137da1ea-e201-4898-ba41-0af00bc59081 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c3571f5c-c457-401f-8a8e-55e5c3249170 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:31bdb94a-7ead-49bd-8aa3-37b879c27e50 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c62ca15-2ab0-448c-9caf-4b5f84bb439a phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:763b3cae-0f79-4a84-a96c-26bcd6ed554c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d86bcb39-b3ba-4bf1-9ae7-3e26ae57566a phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab812492-4ae1-408d-8496-c83a89bf4a12 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f7b3802-43b1-46e1-a385-53df2213d4bd phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38c31964-e6a5-4b8a-aa7e-07583e6cd495 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62f6021a-2b7b-49d5-837f-be88cec4f95f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b234c00-343d-4fa0-9d16-7b3d5c48e4aa phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea7f644a-01af-4ae7-bac3-2e5dd7e3c717 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:793270c7-24f5-4463-b5f2-570be2e8c6ba phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca758d4b-3dfa-4afa-b73b-79a53881691a phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bbe3d335-0b4f-464e-826e-6eb2ee0097be phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1bb16084-c8ee-44b9-829a-3095b119eca7 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:daf781ad-372a-4993-a95f-6ce8429d11fa phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c2e10ec-f56d-4bab-83ec-f97332e00327 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:600f313f-7e0b-4632-819b-c6120e697363 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54684c7e-979d-40a8-bddf-999b1d154c2f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80ab8207-236a-485b-94be-910939f6ae08 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74045420-409c-480f-8f49-ced992430813 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6818af08-0a90-437a-b530-9a55e0c7c64a phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b55e205-2e2d-4af5-bbd5-988887708f37 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:504eaf51-a0c7-4434-ada2-bb8f4dbde1d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85340c09-b213-4476-93d9-bd7020858ac0 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a066418a-962a-4a6d-9a7a-69b433b1c676 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a55da9f2-72ec-4126-ac3b-594382493fcd phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5213e25d-754f-4f9d-bc60-3c7494d09d2c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:710f01f6-5ef2-43f2-8983-ac69df205ede phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c734fa37-6b97-4ab7-886e-60632e8b11b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a30d6756-13fe-4533-af68-ac7aee438665 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ff16694-14cf-42a6-84f9-a89070711628 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4fd62f3-ac1c-46a1-b8bf-23265e139415 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f1a9578-8514-4401-bfb1-3206f52e42c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42335e4e-ada9-44d0-b292-24e78caa8559 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3a4f2ce-ebc4-46f6-97e8-590542247e59 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14933f18-dd32-40c2-ba0c-8af5b05d2d6c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af251284-8a61-45ee-9586-68fa763631de phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2112be4-bf9c-457a-ab94-5cd7102cd330 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34fec6f5-8737-4aa4-beb6-e01997f897b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:867c8ac1-fe57-41a8-872f-db17fd75336f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5db46e49-0a08-4914-8085-127269e08ce4 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e06c0e19-e28b-4e68-bb59-38346f4f2796 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f161ebe-c40c-45d2-8c9d-e89c404c9c58 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1cd3382-b059-4829-8cf8-92978b35260c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84722a5a-de1f-4515-b03d-0ab71e99abe7 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cafed7d-5a2e-4fb0-a29f-13ce2f689648 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d26d8a61-f4d8-4753-8d91-e7d573d96869 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d45ae150-727f-4f7d-a7b5-2b511374b078 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5975487e-2701-4821-864b-e21ea84fa64e phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2191af9b-ca0a-4f71-9a09-c5ed6e56997d phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e5b391a-c364-4c89-a128-01839f538fc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:335526cd-53b8-42db-b9e5-c710ae6d2662 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b339af1b-78ee-41f3-aa2e-a15733465e8b phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa38c46e-4b05-4a8e-a896-4a923df9df86 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5042b7fb-fc21-488d-b5e1-28795b84cfa1 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b82e6a77-a7fa-42c6-bf58-5a236558f08d phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f9dd395-f9f0-4f6f-be76-b8a436e36af0 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa721a81-c436-409d-8c2d-d79e41506c08 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1eb0741f-1989-46ee-8e3a-db9c6f6ebfe5 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67cc9f54-7fc3-4c21-8a80-ecaa73679bea phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18536e45-18c3-49cc-8db1-4b70c7e37b23 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88c2e54e-40cb-44b7-aebb-468ff5f70f05 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:164754dc-ca0e-4057-a2b0-fa9d650e93c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1cec4db-b706-40d7-a1e2-7e1a3a660698 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28982718-3c84-4ae0-807c-3f7414b9b125 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f012d45-79c0-431f-8120-84c38a33bb27 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09279d7c-b608-4906-b4e3-a32d4c2b7608 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7ded434-5f7f-4cf5-9a63-2aab977daff6 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b751018-8d86-498b-8f5b-03006e08ad63 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c52d7d0e-d02c-4ed4-929c-34b948bec1d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03faf186-d103-4cdc-9f67-94dfc566f739 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f247684e-1994-4bba-8d56-ecc37901887d phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f635fae2-d402-4221-a60e-e15ef78ae976 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48751aae-b9e6-473d-aaf0-4ba227c6210c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4dc43b1b-5a0b-476d-b1c0-fb103e3a227d phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:895a1230-21a7-480f-a20a-7eb72b452b24 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a7d65ab-07fd-4af3-aaee-7d64fb16cc49 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d73a2d7-1508-4af3-904d-81221cd07207 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80b1aa07-fcd3-46c3-ba59-f9abedf68d82 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a763ed0-987f-4695-9b67-c8bd0acc753a phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df6c3860-48bb-466e-b8b3-88c1416a0924 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dba2fb6-3b64-4a5e-a955-b0eeffbe0dc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5bba3b30-f3d4-4c0e-8c8b-a6eb7ee2e57f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:926c35b9-0da4-46bc-84a4-2998419f3cdd phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28519e7f-3ea9-465a-9aec-21b2d1d9cffe phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:205b3b13-9257-4936-9df3-5ba90ea04975 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ef626ec-4292-4617-8280-b8aee9f1289c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15d28680-9737-4cb6-a655-27cd86963b9f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5360c37-a0a1-427e-93f0-01b1a2ca1a08 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b2b7566-54cc-466e-92a9-0a198764d74e phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57ecbb84-3a03-4dd0-8d25-739f2e6a897f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82c1c729-9146-4734-951d-214ed5ccaa10 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cc41165-adf2-48bf-b579-805a2281ad0a phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ec6137f-dca2-4775-98c0-807c4a1a20cc phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f3b7d39-2ba7-4f5a-b020-c6e2588eef60 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:adeb63fb-fd06-4e93-92c9-6ac61d473c1c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:888e16e1-2071-4e53-b7fb-afbdd96c1e2e phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eb73a953-800a-4f6c-8e65-5e66f54ea52f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b570981c-00b3-486d-b79d-0f5b4d843113 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fafdb7a4-4290-453b-b840-f29cd9c9d790 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:503d2985-6ca3-409e-ba51-51aa74fe2e4c phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e5ac89e-bd19-4b89-bd7a-5e5d6ec31a18 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:deff9499-2845-4b57-98ed-ad15a4f24a91 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8f5f53f2-34ea-408a-8733-f18ca9000cac phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f70100e9-a70c-4c20-a0d8-995621c2b367 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:53d91b67-c6b8-40f1-8298-3b5b72b21e67 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa107abe-41d2-4da0-9b53-35479b805503 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48eec885-6fd4-4872-8ec6-ec09b30c8508 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:150e3185-7446-49bf-bc44-622639cc7b56 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec347324-f89b-4421-a1ee-743951b5262b phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:981561d0-62ab-4b0f-b625-346a967532f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34924ab8-4ecc-4fe2-a54a-3d3a6426a0a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdb38922-24e3-41cc-a410-43ac0c2f29e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3c3ca38-d648-4cdf-9e73-96dee77b0947 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cf04169-76b6-4f8a-8585-d5123c88e441 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b6695b2-6f36-47c5-80b2-5f92cbbc7b0b phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a19d3d93-f6a3-4c4e-966b-5982ee1a3652 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e6cf680-0413-415b-8cb6-36639f833af9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2865d9d9-1cc9-4873-a5c5-a977c6a1ffbe phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6521d105-ebe3-47e8-9bbd-4572ef87b64e phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cfc57950-84d1-4a96-8835-b773650bfcc2 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05da6e51-7a95-4705-b357-ae57476b8562 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fda8c89e-c2c6-4275-9748-50e463363309 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f18d12a7-8164-4e5e-b982-7363e3e431b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4c72ce5-6469-486f-bfbd-750d6e4317d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ee9cf54-f84e-4101-80fe-fcf21071500f phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97477d69-d947-454c-9d87-ec4a218229f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15ab4041-eba3-4323-b71f-2f4cdb19786d phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c63ddb77-2fdc-4e7f-a99a-4a40b19a4362 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:bc37a67e-f309-4776-aba0-7ddec8b940c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:83fed772-4d9b-4011-a47f-9d5b33e4bd02 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f6a248f5-d6a6-4c79-9ba8-8bf637c91a5f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:4d29e44c-310a-4cf8-9301-716bd6b7cc8e phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:70547c8e-da6b-42e8-ad88-24f2ef508bba phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b4d6557f-7b02-4657-a6e0-75ece7d2344b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bf3d575b-7068-47f2-afbf-65afb517fba7 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0ccfe2bf-fc43-4b0a-a41c-59175e191c2b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:46dc66cb-ef36-4246-85f4-793fc26e6cfa phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:96aafbd2-79ed-440e-8121-d3fcce5f764e phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:139b1a3b-66e4-484d-a06c-58bbde64b9bf phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:84d45b67-0d06-4cfd-90e0-8cadc4be3019 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b4e87c15-7920-4202-a39a-ad403f96b84a phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0d2702af-2e5f-4157-baa6-95af5ad3d507 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:40bd1a68-7838-4266-b4b8-cb5808a5bf48 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ea78a023-671b-4893-83aa-0a29a454a549 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c8050b76-8bc4-483c-81b6-39329af23488 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7b5afb0b-a4f4-49f0-b82b-72494108b5e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:49b6a387-7c01-46aa-adae-c14e4bac1ead phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a26d795e-5a22-4804-8e05-03db9d1a0e0f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0e3bd50-bf9a-419f-ade6-37c0333becf5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:290504fd-1023-4bf4-aa01-09055c426fc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:019bf0e7-0f81-48d0-994e-d29f47c1073a phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c64f4325-ec23-4bdd-ad5e-0e45111c6273 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eca020db-1df5-4451-b62a-65d0ddb7c1a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9061a4a3-f67d-4e70-85ec-a4d4a34743d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1e0fead-3159-421e-ac1d-db278db46b8d phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fad07ea9-dfe3-4c5c-be1f-47533331dc0b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abd678f6-b97e-44bc-8f6f-098905dc9df2 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04a7e748-c799-4ebe-a9fb-7230df01cb01 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c549542-889b-40d7-98e2-5a4a9f8f5640 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94fad235-aee9-495c-8fe8-c895b4f936b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:60763015-c492-47fa-bf52-b6fde3699ece phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2459b7d-df05-427f-9780-0d46a694c329 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6792d6f1-3e0e-4199-a3a6-dece2f8b95c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d432fc7f-8272-4bec-a0bf-e4212770deb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:535af316-9f4e-4367-a6a7-d96f614b3e49 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5f1b561-c0be-4c35-b1b1-585f8b7afece phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36d8728b-2e23-42e1-8fd3-3e5473ebfee0 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b56223ee-222a-4334-89bf-b521a2965884 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a84706c7-6efc-4fe6-8527-564aadf1a0d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b44cf90e-2e69-465e-9280-a11c87e7bd13 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fba456fe-901b-4efa-a850-5d32fae1f105 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b3e8548-34ca-4278-9e2a-77fe85e3de5f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a120f1b3-8c2b-4d65-a3a8-77baddbe951b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1817a74e-7a90-49fb-94c6-3503a004ad9f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8883d56e-f94a-450c-9725-4bb948cf3e28 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49a52b93-0445-4d9b-975c-54874c2145f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a450d0a-dc5a-46e6-b1ed-d67043a6ce00 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f84096e-5be8-4bba-ab3b-fe95f35e90de phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0802c454-454d-47a5-a6c6-628c9f893ca3 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecec1abc-8fbe-40d7-a6a8-597d4442ab56 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23375213-41f9-4b0b-a3f7-c90b8f039d9b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62a8684d-83c6-45eb-b419-c29dbfe07db7 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aeabe1d1-4fbc-4adc-b8a8-3daa487cb29b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c08ff66-dcd5-4e07-a982-b5d7d0f72059 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9d62857-ba8f-42ea-82d2-6c87c91ac588 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9ff66ea-c8d0-4ead-85c5-d45fe209b1ab phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37cfd168-961c-440e-9fef-90bbf3e0e8e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d7c72e2-2216-4a7c-a9e4-696e8d30d49e phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ae1a7e2-018d-43ca-87c2-b647f7a61259 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec836c09-d780-43e8-9f18-78f471973179 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5ef886a-b0ae-4fb4-966a-19f2f87d78e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c276effb-3cf8-459f-b726-3cbb64a288a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cbc3dd1e-76e8-4574-be0f-a2f047e4e16d phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c404f46-99a2-464e-83d9-f9b13a037733 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bc5eca4-b03e-41e2-ab6a-cd9ef9fca803 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2dad7351-8477-4cb7-9116-4a7c4c2f21d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c48260b-8e08-4017-87f7-4e5bb6dbf5da phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd1c49d5-bea3-445a-9d31-7f40ceb9a67f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e286966-b2ae-4862-881c-30a250ecfe19 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfea0f67-40da-4e1d-b4d5-56f4068f760c phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e688683-26a8-4b46-bdf3-1aeecfdb1521 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:710c04e8-a63d-4809-82bd-9a2e3c24a88b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e601302b-b44b-4d84-8ba0-701088528a0a phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ff2db14-feb8-4526-b277-0ceeb9c55411 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c96eb3d-211c-435a-aba7-46eb287147c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06701a38-d7e6-4a0c-a50a-6d299dba5f41 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:564ad1e9-97f8-4006-9676-f2bb698ab670 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a92542d-0d14-482e-883f-75f6a20d1a0c phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9081e2db-146a-4674-9766-c928f5234a80 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be8f14c6-cfcd-4dc9-baa0-6620bedb009c phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29ae3a26-0887-4373-a9c9-e53b60533e55 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6b896b5-94d8-4844-af10-cc9d666475f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:691105a9-79e0-405b-ab4c-b1ef29c23525 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2743199e-158d-47a5-9390-efcd9882118c phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c160068-9d38-4f1f-a2cd-6835e2cc6bb6 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6847078c-3555-4e5f-9c2e-684f2a944dd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:201c5132-2e53-4eb9-a5d2-7c1c9b16a8f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2828733-073c-472d-9686-e9010d518082 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70d09c69-b23e-408f-ba56-b167efad8d69 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bff45ca-459a-417b-b2fc-54e8b487c684 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46104a7c-62f8-4673-a918-1f4e03e1bb04 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:488d8287-bee4-491b-87a2-e38aa6902a78 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4475beb0-767b-4de5-a552-cead981c6a84 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d06bb59d-66ec-4a99-9a6d-86ecbdc4b572 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75551912-0910-41f1-8960-bc5be18b9167 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68c70873-c159-4276-b6a6-f92cacbc9abf phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cccb993-3e6c-45b8-a2d2-1d6e7952beb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0ef3b2a-7470-493c-a348-49e3a64e38e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3be69f83-9062-408a-b6b4-28b5a79129ea phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8c8dd34-b054-4c92-90a8-105bd678d9e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9e5589b-ee86-4da8-892b-e35f517974c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7df454c-663f-495e-8969-a639758438ca phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4e7eb57-4582-4bed-a3f3-0d0e18640075 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:871046f0-3489-4367-9c99-ac35bd6a98fb phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b34c7d4-067f-44de-9969-3d554c233d03 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6cd4e2f6-7a3c-4b25-ab18-4cd81dea3ea0 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12b4ae0c-61d4-4c44-871b-344c61d737d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f309db30-43c0-4b80-ace6-2b4b7b61d380 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:458e069f-2be4-4dd3-af91-d495afa48043 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a07ae24-fbb7-4d80-a777-8e9819e750a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5c28579-f8d4-45b9-9ecc-27678f21ab18 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6e3842a-0543-49cd-95ee-6ad1031a0b23 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bc1f9f5-8721-4722-91fe-2f1ce344ee2a phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff7e8a3c-3670-4793-a597-2a873b591cad phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb99e3d6-5375-48e1-9be5-6bc6d5595a0b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1586822a-4453-461e-aa84-310bed56a413 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4843f354-7aa7-4ad3-9d8f-8084dba48af0 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2922170d-846d-4d53-8fb5-aebf23c0453b phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:341e39ae-0f49-41f8-aded-b8d6ef2e4aaf phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ab93117-88f2-447a-b756-69b7ce7e58dc phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7930936-48a6-492b-8034-cac847cd6b42 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2b7c167-9eda-47fc-86fb-1291ac51d738 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ead33b59-0610-44f4-a8e9-ce828935b4c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b767ff06-a914-4edb-b2e8-dd010c42e14f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fbe8843-b260-41f1-ae8f-9561eeb6eae7 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99dc27fb-649d-4148-bbf4-eb57dcbeb041 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a001605-536d-47ba-af48-39999911f231 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ba8722e-4a9d-4c70-9811-fedc98dba35a phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5078fe3-9772-4498-95ff-4612ea8d516f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d95e1fa8-6948-448b-b368-80328f370e0f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee5612b7-8c28-45bc-abb0-02bab752dd67 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58a0b652-f1df-47d4-b5f5-85e494ea5141 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f2ea4e8-7221-401b-9aff-2937d495f816 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22fe4eda-f373-4f53-8069-c54b7f9cd2ab phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd22ac9f-2186-4f0c-bd88-b2b855c3b1f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62644e74-3a2d-4a1b-a1e4-7cac0049d324 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47a4b677-4b2f-4668-9aac-6659275bc55f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c9ea53b-1581-4b03-948a-78656390d78f phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95aa4c60-b7c4-450a-893f-cb002c796d61 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:577c255b-4c00-4aff-a9bc-8efb5c2a35aa phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:842554f2-217d-4f0a-aaed-7cee1e7c54fb phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a372785e-552e-4a8b-9030-d3047faaec46 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7328cab3-84c8-49cf-a7b1-550b38097bd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:988243e9-d091-470e-8c93-84d8628c14e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a34f914a-3637-459c-ab14-d4a8ea5cd2cc phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dbc36ee-8ffb-4c62-9074-bfcb90067727 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1a6c903-a0e3-4a71-9b34-3ef2ac8e6bd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4913750f-757b-43a0-bd72-fa829660dd7a phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:cf63843b-0502-405a-ba96-c63237a4fe30 phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:db2bc5aa-034b-441a-aea0-940378d6d78a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:16c4289b-e825-4d76-ac73-f0f9fb1da71a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a0af7272-8225-4b04-91f6-82bbf9bfee43 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:921a28bf-af25-485e-b2f6-83a5b0decfc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:71e65e07-5444-486d-98a0-aac67dfcd957 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3b6cc2de-fd28-4809-95fc-2911ce81b787 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8be8692b-29e9-4d73-baaa-9648b22682c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:25fa98e3-79da-4be3-81c8-8ed85e1e1ae2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fe5be756-e26c-4e9c-be3f-1589e0eabf07 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a1542b13-bf51-4912-ba6c-967f34af08cc phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1e2b31da-e449-40ef-9f22-8f2290d35499 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9ada7121-e6eb-491e-b94c-37fad4f0e265 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:435bc84c-f923-4907-ad24-a35553c766f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b19efa6-b0bc-4990-ae61-0694b8f30483 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7831263-2bd1-4d31-92eb-fab2c5b2eb3a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9edd899a-ddc0-455f-b044-9fb2b3dc7e5d phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c2d42b3-867c-469d-8913-8131f01ef5bf phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f4bcc3d-b53c-4693-b55b-b30bc72bc6ef phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbea5d14-615a-4549-993f-25d9d7e13f08 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79033712-2b1f-47de-bca8-193b237d0eb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b17136ba-cf3d-4e80-a39f-f03287bd337d phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b974498-2ba3-4c28-8255-b77d08756736 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d2ecd8e-cf71-442f-b7e1-3b3dbc2e9f92 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3939021-6a72-4777-ba32-21a99cb80e4a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cd4deb7-9dba-4ec7-9b23-c45fd3e043b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b518d07-672d-44ba-844b-86ce3d5ca4e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a75e40af-4b56-4676-b06a-ecfdd64184f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:47038629-88fe-46d3-8dcf-ec2bc13200d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdecb31e-0855-443a-a7ea-0034cdd8cab9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df70e7d5-9f97-4d95-a439-851359bb8bfd phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01f51cac-8f8e-410b-af5e-6cbaa79c90e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e2153ed-88fc-43bc-b604-acecb198d664 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:722b026e-559d-4bd2-8c7b-1860e76d4227 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c4db2b0-3e69-4d6d-bcdc-24fe21d723d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:09caae5c-5895-43d6-9048-db321dbc6a74 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6a1f6e6-8c36-4e9f-9479-0c2c5738ce80 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:677ec367-87f8-4875-ab48-305c36f3a6be phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6c6ee54-69ff-45d8-a561-74ef3ac04998 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf6df791-8c37-4f29-9cd9-179fa768c9a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f82aa80-ff7d-4e1b-a5dd-b95be2e11d79 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f05f6f5-d178-49ca-837b-0994c33dcd44 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73cd2686-9144-4f39-80a5-97f9f0da4a6a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f267068f-f6cf-4e53-97a1-8d03d8734ef5 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f11255d3-7e3b-4b06-a99a-5f209acca0bb phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33ac8832-71d0-4817-ba46-e95357a11ff0 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77122111-9a5a-425c-8d9a-da0b00cc8e8b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:241c2923-d775-415f-9b18-a71c782df590 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0ae44eb-e1b1-47c0-bb1d-a7f4b942b593 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a994d56-2ee9-4feb-87a9-01ee2407e99e phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a487625-d47f-479c-8a09-2fab166432a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a73112c-96bd-491f-bc60-886cd99fa7f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20e6ca50-6c8f-4d08-8803-e2b2f3220c5b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:11cc9c65-e8f6-4dfc-943a-ef026cf5cddc phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:555434ba-2dda-435f-8ea5-baeab808d472 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2904db20-3f73-4422-aa1b-67be729a178b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e75ecae-a4a2-4fc2-aeee-56ecbcc8d973 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab8da17f-6587-4521-a76d-630fb75463fb phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45e007ad-c426-43b0-b120-7107cee870a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d877c02-7cf8-4913-b226-038e76a7264b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70b3a985-ac3b-46c6-9f07-a63c4a9d5e9a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d2b7337-8229-4bdc-b308-eae0c1b183f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a8c76bd-3208-424e-acc3-bc045f49ea2f phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7688fe0f-4edd-4f56-801b-9db01ce4e09a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a895f8b4-d2e9-4b35-b94d-a88d71459748 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63890b89-f043-4573-8eec-1994cebbce41 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b656922-2dab-4cf1-842e-ccf09f557455 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff23479b-1723-4ec1-b282-e5d731a7b737 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:257b39fb-65be-45ab-9927-1fab856e494d phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef64ef3d-6033-4f43-94fb-d30ac5e42c35 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5d7ee5b-d53d-4347-bfbe-e1f997eecbfa phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5abfcfe1-f0e2-463b-9325-60c50860eee4 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f3ca7a3-731f-48ce-905c-b004d37937f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41c84133-ba89-4ad6-9b4c-3aad2ad72029 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03525c4e-13d8-4278-8eb2-14a2d9df0756 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70a847ca-3b8a-40b7-9f6d-6a367c15ecc4 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3182854-0ee3-4c8b-8a8f-1e19742cf155 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3216186d-faf4-4703-b36f-aa26b9229cb6 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97ca2e23-c49e-4237-b785-03a70b291348 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad051c51-9d3f-4add-a853-7fb5251ac9d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be1c6d7e-47a5-44a0-847e-54e92523eca9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:295fe44e-8ac3-4d49-9e4f-410e98313d31 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eaa66f33-68dc-4080-8316-6cc5ad46ad9d phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7133a9fc-3cb3-4905-9917-2d8d37a465a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85e8692e-de6c-4dff-84f2-7681a4d24642 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00c22099-e1c1-4cf2-bbe0-3f1399b88852 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92c136bd-76af-41ea-9964-fdff7416b196 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1761ea1e-05e3-42cb-8821-a484a65ec437 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ef4c1d6-2a84-44a4-8b1c-a410b96ce53b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55dd263e-3323-4209-abb1-a3c6fc2d8f3e phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:069060b6-7984-4989-8a77-da0895399a72 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:056ca311-dbd9-4e2b-a87e-7a2988c0ec6a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87142f97-d859-4714-9520-f0deb727d60a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf3ea2dc-66b6-4959-b65b-f8e814656a9f phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f20540e-9039-423e-8f4b-711cfe42f755 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0577d7b-fa1d-4940-b074-e7f390b17df9 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e35404ee-dd36-4f79-86c7-385949fabd74 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8bc1d43-dab2-4d76-98bb-7b63c793403b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d45f154-6799-4df0-a294-4f680663619b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f34fed4-e794-4506-be07-c0ca12fd5438 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b99a1015-271d-4a68-91d5-97158d7427e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3904d992-b891-42a6-a2b1-60576a8479b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e918a2ab-1029-42a2-8af8-c4efd080785a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85c7d694-f26c-45db-8a43-fb0913eeaf72 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd9c7145-680d-4051-9972-97866ea0452a phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7590c9cc-782a-4d1d-861b-9e147cd13b81 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b271c5a9-3852-4540-944e-9e04f7018e90 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c712ba9a-16f0-4faa-ab99-988b6119eaca phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06eb7c34-423b-4806-ae75-2889b35ef128 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08243723-480d-4f5a-9a53-5d9a4b27c7d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c895d6a-a95b-4275-84c1-9d91f41d94a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7b93ad7-51a6-439e-83ec-cc5ebc921425 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:875f34d6-575a-4a7f-94c4-e478bed01f12 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00fb334a-164c-4e86-8af9-91bb4e5feaaa phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c66356e-87d9-4f2f-8d45-4abbcd2868b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6b01fb4-ebca-4286-99ce-640906774c6f phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0fda508a-ad9e-407f-87f4-adea225937ba phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b532e898-6385-4700-a8b3-2d1efba6d82d phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12eae358-bc49-4328-8e8c-897d0c4db110 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a440de2-3582-4746-8978-887778ffe7fb phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7ccb418-e5ab-4186-9c9c-e956e3f8d597 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:089496bf-c400-4736-858f-8853c3318ffe phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59dc719b-7dc5-4b80-a5c4-3f95a4ec748d phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a62114c4-7fbe-4f9f-a644-3945f392e536 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7179f60-2d78-422c-981a-b415cd9443db phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ccff1be6-2689-48de-9c8c-1d978f4ec916 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8bc7a296-90f1-4d4f-8a56-1187a02cd000 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8bdbf94d-0f23-4165-9fb3-3c8b1e75016b phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e660d631-0dff-448d-b162-fe94b8b5b4c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe056347-d250-41a4-8a16-6d7080a532ab phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e7960a6-c74d-4183-8a07-88f6142bb7e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a89e1a37-0270-4025-9dc1-a66b0a370c55 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a312252-1cf7-4c9f-9b49-8ee72d779110 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f452109-3813-4018-bb55-d6bb766dadd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:602bca88-71ae-4756-9635-6fe2e2d29055 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27b2ccb5-33b5-4ba3-b4d6-44f3138d3c99 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66ce1f87-565e-479c-a211-a9fd3624c3e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b37a89e2-5cb8-4c0b-a59a-e99cc85d1802 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37086236-2e10-431d-9559-603146a23c39 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3695e5f-689d-4b68-a04d-654c940c1556 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa6d7606-541f-442b-97fe-0548ca592eaf phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba0ead18-5d76-4b6b-a570-35087b1f1e55 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c787a591-bcf1-4ac9-9217-9fc575ea6194 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a6d57d8-7fe2-4714-9cbe-443f6d50e96f phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d17e93cf-b8a1-4037-a1bd-60a7bd1f2921 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68a29590-1baf-4f8e-9a5a-0193b1517580 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80808cb5-57dd-4e5d-b17d-0916abd9aee1 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed396120-e6d2-4f12-a40e-3115595fe9a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee4996f7-61fd-43bb-a20d-3004e9c08ed2 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b04d552f-784f-4b3b-87e5-13a0f39b0bad phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3bea69f3-8862-4afa-a6f3-3741e4499521 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:1ff271ef-4616-4070-a05f-82502a16d7d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:bc456a6e-fdf9-4048-9a19-750b7b6fa693 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:83036061-ba02-422d-b44f-b4dc53c50117 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9b9c0116-3bc6-42c7-b6be-668c3ed38598 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:254f0f4b-2914-43e3-b034-7402e55e6f13 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2c417569-8a92-484c-9a7d-9b4e8d8c5bfb phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cc28ace5-fc4f-46d4-8dd3-4aa7c73c6535 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:76bde24b-3224-48cb-a342-44c286ae63e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a938a8d3-8a20-4300-b185-81bfadb64170 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:da0c9344-39e4-40b9-a0e3-fc3a0bf09813 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ceeb34e1-72d1-4221-8335-6d5306158d37 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a37c8e12-fbaf-4866-82fb-c60b3dc21012 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:45db5639-e013-4e4b-8021-73fbb30ac862 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d8fbd174-3223-4f60-8ac1-249786dbe001 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:872b9213-aa98-474d-834d-d7919b0016eb phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eb572dfd-586e-4f4b-9af1-5cf1edd17545 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d8d96e3-69ae-40e4-9c78-10049d0d8555 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f441d373-347c-458b-8ec1-00a6a5f4ae48 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12bbdb4f-5ae0-4525-844b-66fd2c4798d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:713a908d-4d2b-4764-8d15-cb9aefa3dbb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aeb09e7c-bebd-4a9b-8d02-b70e535aeaf3 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b8dcb41-a490-4099-b138-cd919d24cfe3 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ad95d87-4357-4c5d-aa9c-1543e1888f27 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:386ab3ad-7df1-4ac9-8ee1-f73c0ddb1cb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:087287c9-82a3-4af1-a164-edf2644a39f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cd502f8-0924-4dc5-87d3-d7681c401a55 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b98cf0ec-0cb8-41e4-983f-f66e1ea9720b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef166501-5e6b-4f49-8d21-09ad337c9398 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e1d6ad9-53aa-469c-9c1c-2c7336d30e16 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18685969-56a1-4359-af3e-5164915fbddb phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c647af36-79c3-47b7-8078-1e9242d4900c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b123d2bc-9dad-4768-a75d-3e23d098bd3c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:629f6d43-cac1-444f-a438-20c3812d3798 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7194757b-e4f1-4a06-be6c-d57acaa6138d phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5eabebb5-d3df-40b6-ab2b-3cafebd01bdc phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ebd81e08-ae78-4b2c-90bb-3d34a52f9e59 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:617f0a3b-8a7c-4bf9-bc1f-25cd3083ac92 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10089cae-cece-41ee-adfe-05d2a84412b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9288a746-40e9-4331-abb2-94e7d4062f98 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2e44df4-a492-46cc-a78e-4105e1921711 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e1510a55-82a1-4685-b827-1af120ff24f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:125bdb4c-4cd5-4d0b-bfd2-3516cb8225a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55b5a128-9b44-4586-abf3-3ebb3a168935 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea75fa57-7895-4aa1-8375-6fccc765efa9 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7bace2ae-1b75-4786-bfe7-ef4f2f0b0940 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a8f4ff7-034b-4fb8-981c-7a137434f7f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e491d3f-5a51-4f62-8560-f4ce399d785c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f149475f-0dd5-4521-9bad-4b622aad7d09 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56f0f039-c816-4e52-a320-ad17545a70e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ed85835-6320-4d89-b320-3e460da1c7fe phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b199122-9dcb-4f68-b636-1a69e19e3e9e phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15c0ae32-1dc4-4bee-9fa7-87d53b895457 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1748ef2-8ff1-46a3-8594-c29fad6851c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e7e8493-4e8d-4f23-8230-08f5a4204e3e phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:859c3cb6-0c91-41f7-a49e-9186bd6eb899 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3aa0184-2d11-4998-8cd4-463e38a7d2a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17a03b69-5ad3-4936-a477-178b07cb5a24 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1406b66f-a631-407c-9d74-00560c5161b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4500be86-ea70-4ee9-bc7b-a2c561627b71 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8d8e551-1397-4d34-8e98-72e7b9f84b5c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd828c63-ff87-4c11-b52e-325c72bd2a2e phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34a81827-fb63-47b3-9812-18d8f5c6f98f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92c7fe21-2253-4bb1-8dd4-e7d20a14afca phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52346f6b-8a8a-4971-ba2d-cc1d9a287797 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afc5e43f-6414-454f-b895-7c7e6b499110 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d28aa3f9-cddf-4215-89fd-1948f4ebc9b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b181f9d-1809-4002-8ceb-037c74c43d71 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc0fba44-aa62-4c24-a466-c33466fb586c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc3a31b6-3f3c-4677-886e-a425b9e05b9c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a3b4492-0116-4668-b9c0-291aa677ad54 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:579ba712-2609-449a-8d36-45ff46f17b14 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c30b8596-447c-4bbe-a66c-85825642e7e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:255b0d21-f9d1-4ba1-bad2-1d7bd50f418a phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3974f33-77e4-4c28-ad11-cd2a8d83717a phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:77c9f991-41b5-4d22-8d2a-f395b770b58f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de3a656b-66ba-4e98-ae12-2853c64f47be phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89efffdb-11bb-4a87-9f4c-9f17a49ac91f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71e362a6-115c-471d-8d07-cdf6e76c6628 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cac227bf-454d-4ebe-a41d-0780dffe7e97 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a32beff-1577-41db-9c88-0fe6e1219120 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79c2a4af-962b-4ba7-ab36-0898c58a2ea9 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83285815-cdf1-4f57-ad7e-88b521bb0d9d phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a606d189-56e2-41c5-b0e2-2ffe1289388c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71774d97-322b-4114-ae18-de2faa3d899f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc53559a-a2fe-4e98-b85b-45e0c12e7d1b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7504d0a2-2270-48dd-adaa-858019436a62 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfffdf4c-1f3b-4b46-affd-d0f596b9e18e phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d133ede-307a-4237-9ffc-9b2b610c6383 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddef603a-532a-43c5-ad2f-474ffebad420 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58bef10e-00f5-4657-aecb-3eeb459dc31d phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e81f142b-b2c9-4d05-9053-b568ed0e2fb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6750e1c-da13-4ac1-a87c-da250cc50795 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6d04ef5-7d39-4509-b405-8889bc1ae6b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0ece600-6813-40d4-9cda-e06a03e12f1c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ff552f39-65e5-402c-8d3e-9de7ef68d033 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5c70051-3114-42fd-9ef0-4db687ac6ad7 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8299ab3-f2ec-4875-a97e-baae7ea5f1d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e985d37d-2e57-4bfb-8894-271d96dcac99 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:272171fe-46d3-4d15-b3b9-afb21df1dedf phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d62b598c-c46e-49c9-8e6b-74bb72f427db phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee4ddd1d-ab3b-41d3-bdba-3faf56a01c6f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58c5332f-4ae3-4d07-9fa3-e84d9918b1ec phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7dc196b1-0817-47f3-9734-e26064010cbb phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56cbcb10-ce51-4b5d-9ff9-c0542bbcd25b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e92538a7-ef9c-42a8-b0a8-c51b533d0474 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b33b2fae-32f4-4ee9-8f14-e8872cb51a43 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af5b73f5-e679-4bad-abd3-b8cffae83b3b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:611f8e19-df87-4e85-a33a-ae97553eef50 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94f7bcf5-875f-4f17-aefe-0137128d1d11 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecf91d4b-85c2-4941-ae22-1803794ab5aa phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98f0bb1a-46bd-472f-9454-752641aded45 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8d6ffbf-8308-436c-90cd-e06d3a27e825 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3972156-5267-4064-b515-9933383ea342 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b775ca3-31e6-421c-a060-a9a31fcf02fd phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04825814-a363-4582-b7f7-8f42f28e338c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89616140-c12a-415b-8a19-35e35c6c8b81 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f81f9b3-21aa-4fbf-8566-722153544dd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d0dfca2-48c0-4f1b-bb09-eb371f285ada phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a035b1d8-7ee6-46f5-b498-e8a5bfc3444d phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a7331bb8-1912-46bd-8fb9-ad2a0513bc92 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:783d03b5-2e4b-42c3-92f2-97cab665a642 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64ef8e13-f14a-46fd-a308-8ffb7cd9ce25 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67fd3fb7-5dd6-4e6c-ab8e-82a908a578cd phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ad1bed5-4e38-41da-b3fa-2a53c4f8e01f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10639258-587c-4025-95fc-556ca510cab3 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b107175-bb63-401e-a96c-a8c72410c54f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c851fe8-d850-453c-af58-4fe605cc81b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22b51ea5-faab-438a-9085-72206008c029 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6c0eac6-6c69-4857-8fab-9062a569cae7 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3404ca49-d32e-4b19-af86-19884526bf4b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce65e8f5-0e09-437c-9c0e-b10b3d09072f phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a26b637-df32-4dc3-a9bc-29f8dc097937 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef90176c-45d5-4445-9d60-f2970ef2a02a phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40ee8b53-5fb4-48ac-a80e-8d06212815d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36e692d8-caa8-4f9f-9206-93910f1e6a17 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:001f7ae4-35c0-4b00-b91e-2a2c854f59bc phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2818205f-0a2e-4710-b756-ff0fd50bf87b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3bf7991f-503e-430e-9167-577f4bd49c83 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e925e01a-a97d-430a-b4d3-74ad4acf91e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef976d79-2b55-42b4-82f5-db0341d617c0 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0d417c1-da2c-4a1a-ac51-3e1ed0b0b4be phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c9bad2fa-67d4-4385-8068-98d170110921 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d0f7297-7204-4ed7-ae6f-c49e6fb5d5f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62c14514-4d5e-4bd5-9e38-639bd1d5a40d phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95fbdd32-7db7-4cab-abba-0079fde7c04c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbd7ff07-9a2f-45c7-b8fc-8fe563f62f0d phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cb8e6e2-26bc-4a56-9f98-6537f1e0e8fe phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7162eed-e908-4b61-b955-d4e650e63664 phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cefca945-dfd0-4ce3-83d6-dca9f112ebfe phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24752d1a-a940-4489-954a-7f57930ec57c phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:62f32a41-0c2a-4389-b8e2-c323476d681b phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:606308b6-e2da-4b09-9280-330f26893aa2 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cdadea79-05c2-4e33-af0f-62a83c7ee233 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d3adc8d3-c77b-4a66-8dee-42755280b4af phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d2457b3a-3b40-4170-89b6-2561bc9da483 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:63fefeec-3c77-4ff6-9553-e765997c3db7 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:dd43f5d9-f704-402d-bf06-6a3b0b02ba01 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1041426c-dfc9-43a4-beb2-fbe990b22d20 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3a2bf5db-45f1-4031-b47c-76248f331b7f phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3d570393-b906-4a00-bf44-6b552fc7fa63 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1bcdefbd-b0fb-4090-930d-4386e89f9d6e phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5014b046-1b1c-49cb-8112-61c4aba981f8 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:52fea750-cedf-4542-b967-b60178c19843 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9992a1aa-3ae3-499f-8317-c637b225febe phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2bf73f68-e7e3-43df-a15b-2e37cc66fa65 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a7514d30-bdca-4be2-b09d-60f4009ffdff phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2455deb7-bdf1-49fa-b0b0-ad63c8b6bfe1 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0155e8ab-2866-4c88-9936-1422362facdc phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:281c1fdf-7e4d-4b91-8a3e-47ca4d79db83 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:61c06e34-fdf2-4d76-9aff-44eb5afc412b phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:6b48188a-1409-40ea-b196-138a0305dfcb phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1c080414-3291-4719-bbb4-7bfb2e0d9b57 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0031432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1c9612cc-95e6-4d91-986f-82f7404ec58c phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0d186e02-ccb8-4665-a17d-d9180f878dbc phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:37775bbb-d428-4610-af45-5ac83f4f766f phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cb6291cf-a8ba-4f62-8434-438d5f5fdfd0 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7ba43316-ef90-4d57-8fc5-708cea548fa1 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f4328e6d-7e18-4773-a937-d3b489da2919 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f243f8c5-83ff-406e-99b6-497798bed1f5 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8185d725-965d-4c6f-8bda-70fd4e346e7c phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:efc00758-d138-4efa-a21c-5cd4958873cd phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f02aa1a9-0c62-4281-b409-333ef766d575 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cac80d32-10e5-44e6-b9dc-a2c866c674a1 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d44d8891-bb51-46e9-a0cf-db4c9829ba6a phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:51575296-8432-4eeb-896b-b9b8f6fab1d9 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:be7702df-44bc-43af-8001-2be77e67316d phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d6e29662-1d90-4b36-a95d-d25e22047d50 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9e848df3-8857-4ea9-87b0-390928ae850c phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a8afe2ec-796d-4cda-9910-0df4c15b19cc phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:111d995e-a022-4d21-a622-252f21d9a8f5 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3b0b75d9-4a95-437d-a54d-c3ed20c99124 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ce49d856-9fc5-4cd5-80dd-fa062bc8049d phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d1d3cc99-c9c8-4931-84a2-45c8eeb10f44 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:66b13e7d-f3e1-470f-b11a-69777fb13138 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:01a81d6a-df1e-4a43-8c5b-f0fe648ad713 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7431e993-0b68-4d42-adc1-911f3e5752c5 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2310f911-36c5-42b1-a4c6-5cb7e79e0868 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5dae2c0a-35e6-42e6-99c4-a17fa48f4fdf phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c80ebbdc-9732-4b34-b5bd-e83afb1b7890 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:e658d67c-0e19-4dbd-a0b9-5f6838f850fd phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:371cdeca-befb-4471-911a-696483e84a40 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8508a041-c0e5-4b71-abdc-d28aaea8ab72 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0c7f3059-bce3-4631-9f06-7b0450d00859 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ed48a8ea-7699-4c0f-9326-880281a82e86 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fa494525-a434-480f-b8f9-736e0d25df01 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5f5d16e0-149e-4e3a-9ada-18d0d5c8edd0 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1102f5a7-bfe8-4e43-8795-a1f32226ae3e phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:16373309-265a-451e-98c7-8db25c29ee6c phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ca18e521-3840-4b89-8027-a313ec95a8a6 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:84af7f43-8611-4e6d-a4a7-97b5438c4e5b phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2239feb2-372c-4247-9bf7-7905943a5f63 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ae3a68e5-49a7-4388-b404-0c2bfc593af2 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:85268c9e-8b4a-42a3-89d6-4ea803f24932 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6d3e6d92-eb32-449c-9f4c-b6f5fbf393c1 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fc5c55a2-5649-4ab8-a591-30159697c057 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7ce66925-7f6b-4a85-9a99-53f123c20c87 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:caa9da6a-fb63-46f8-a3ec-0e1df0d13534 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b76d3a84-e1f9-4bd7-a098-4bff4848ec1e phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:80a6f466-3cc9-4e62-b29a-c37805360a31 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:116c5575-4056-47a0-a837-ec0ee5652d02 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:31a8ce53-13d4-4de7-81df-961a5db7d228 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:40e23bed-1031-40ad-b9ac-1531cf5c3296 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1c51a9fd-9516-4691-9699-32b0ccea4441 phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:eb450f12-396b-49a9-95a9-4a22fff2c80a phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:19136334-61a6-4057-9fd1-71dc1abed6dc phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:819e0cdd-fc07-4400-8093-928472bfc0c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:f387764b-ed08-45ad-817c-26c1f2ce180c phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a49cd026-29b6-47fc-a9a9-09221492d514 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ed8947d2-4d87-4693-9cfe-221b371e570a phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a075fa6c-e8a1-4ee2-b832-749e6b882d93 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d23cf90d-f606-43fe-97cb-79ed50f7f1a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ea3e175e-129e-4394-9443-91de7609e597 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0e71d28a-4cee-48c2-a734-8816689aaf02 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ea1c6768-2a23-4c19-8863-9c2a9bcf692d phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:980a674f-c9a9-46f9-836b-6add07b57577 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5b8c38b7-fd20-4880-9386-b4e3fcbeea04 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:37b0b98e-742b-4c52-8e4d-c071f4f1fa47 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:637ad7dc-3368-488f-9770-08078adff9a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:cb3193d4-4303-4f3c-9380-219b16866833 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4ed5f63b-3e7c-4a1c-a9df-135ba931c203 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:046a3c75-caac-4e9b-9bca-b89040e162a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:42b3f66c-bdc7-4a2d-9318-937797476b6b phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5483902c-865a-490b-97f8-279e47374f00 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0e48ada4-6786-4674-85b5-19fcfa5d9d70 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2063f8a5-07d3-40c7-bbf5-33b72b34394e phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bea3a7c3-9523-49b7-9af0-ed9e47907481 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa9a7f2d-4997-4abb-9335-8a9dbaf5aef5 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb033cff-6248-4a13-8e7f-5fce6a5ccef6 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15497da1-df16-4354-9818-c30b2fbc3cc1 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d323c08-c8f8-4332-888b-9314c8bba84d phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79102d57-df7f-42eb-9984-c96f9bfedce3 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c2de65c-0f72-4303-8f46-e7c87f47ab88 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97bbfe97-f166-44be-8402-7b8997bc6dfa phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30d2cf24-dd1a-41ed-806d-af68299d4ab1 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:679ee8cb-375f-4fbd-8df7-4bbaf84ffc18 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ec5a81f-60a5-4417-8025-858b9a37d9c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4001edf5-2216-4286-b540-2505fa39120b phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7fcb5797-20ed-4bcc-a64f-d720d7235aba phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f64b099-189c-47e4-ab1a-42a64032aeba phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e0c1a28-1bfc-4174-9b38-c7ecc3b03658 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28c0f7ed-f233-4be2-9661-0a38b7a62e86 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0515f48-b52c-4675-bdce-84aef6823dac phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43385971-267a-49f9-afc6-3a71894b0c52 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd4968e6-0d25-4269-acc5-8a9ee491582b phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f8ba4ba-d690-4bbf-aab5-0ca4e3f6a855 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d3e392f-045b-459a-9faf-6b65628418d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:144271e8-8b3e-4239-ab87-b0b6c5587bf7 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d23b8f9-058b-468c-8e8e-ca7ca6d615a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:690b4906-9ed4-4ab2-b285-1a880f700609 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75e63787-9c24-4b8e-ae52-fe695ab837b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2b535aef-fc1d-4c21-88df-601e731cf8a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4802aac8-9144-4198-86ea-350292a18d1a phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b6774ca-d79f-43bd-968e-c1dac17b6a35 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee115da3-fdfa-40b4-9af8-75ab3db45328 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8bef93d-ee48-4396-afed-1e5f4900516c phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95070471-e311-447f-a451-4cc814172bdf phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b9f9b23-c2db-4582-85cc-9ddecdf32548 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e37aa39-c2fd-41f8-9c04-f9a253e0cb51 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bb0ad47-6c1e-4c18-aa50-b195a1a49775 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:535f575e-b291-402f-97a8-777474f87bbe phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5453ddcd-f49e-491f-93a1-23d6ed8d29f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15d79da3-b2d1-4070-9454-86aac8839975 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cf6b101-4c13-4b31-8e8f-063596e9f489 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2390cd3e-2d5f-4493-bf9e-126e5f069435 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:336a4f6d-3efd-4957-8863-b2f6412e932f phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3aca462a-0ba3-4998-8fde-0515f4781560 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32b3da74-0221-4605-988b-cbec73df4667 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1e2e52c8-55ce-474a-a9ea-2a9c6ecf29c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75c1e258-6600-460b-ba90-c27bacb44f8d phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b32f2a8a-e62a-4c12-bb6e-6d3f915674bf phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15c0201f-eda8-4fa3-a2c2-3ac10b474f75 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c4cbc85-e0cc-4d1f-bcd2-afdd9252cc96 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a93c14c-1214-4fbe-aa68-2f35b539b8ec phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5a592f1-6c94-45af-bcaa-217f91f4f621 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17d93035-7421-423f-85fc-71c5d0031d18 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f353b7d6-65d1-46d7-b36b-04e9661871f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1651c8f7-e999-4365-9cfc-af7a73375ea8 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9599dac-06f1-4912-8056-e45fd73244cd phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a93cc27d-0832-4899-9d71-0a7f7f0975f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5d3c45e-9ccb-4fb6-8b57-b382c014e088 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:044b32b7-4100-4ed6-8cd7-d64bd1705a18 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b4cded6-78dd-46d9-bd12-cccfa6dbec0b phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40c22896-bbac-48ec-b971-c3f2353e148e phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:11601603-5279-4494-a42a-821f26aedbaf phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03d7aeb4-57c6-42f3-b23e-fddb2d54dd80 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:689c91ac-b09c-4119-bf4b-c5e098555ce0 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83bdb5f9-393e-4c3d-a7af-3cef68d3f662 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45c29e98-cb96-47e0-85c8-bb6902749edc phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9da0bbd8-3333-4f7f-8acc-b335e49f97e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de1df634-1890-475f-8e9b-3aaf45be6bb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b96796d-a480-49ce-b44a-5e97d32c43d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b5ca7bb4-e693-4464-a47a-a984da60dddd phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38efe4cf-26fb-4e08-aff3-87e024a3b3af phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50649593-1386-4721-9157-9a94f13c0e10 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70697890-18a3-45c2-ad28-1dbc92529784 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d622bc5-71d3-4c0e-9d30-f416482f189f phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c64cf14-ad57-4b5b-98fb-a486caa38b69 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d315ca97-e98c-41d4-9019-27ecebadc060 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51b06eec-a0b5-45c7-8b81-57f391d47108 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61a7015d-9f85-4f90-aadb-de63b7da5dc6 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:601a50fb-e138-4493-8a63-ecdec818d196 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdaeb839-2551-4253-a4f9-c6624eee5a99 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65159e7c-1cad-4520-8788-0dbaaca359f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9f1ffce-6f9d-4c30-b6e2-3e85875cdf19 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b31e3141-1bb3-49eb-8c5d-4fcce32897ec phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73a5d309-24f0-4df6-a7ae-4b5f0f523287 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a5a9c62-4d6a-4c96-90da-b5b5233f575c phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ee859c0-0e1f-47dc-af77-140a0bba5ad7 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:105fee4b-93b4-48aa-99eb-f6161283789a phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e0d0ca0-45fe-4898-9495-3d02b2cfd66e phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:514cbe62-36f2-4f1c-a300-8c2ebff80cf3 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20ff4643-7391-4a3f-98ff-1800911cdb0d phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9ed0f69-066d-4bbd-ac53-99b35cd9c81e phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8f5bc63-cea7-48fc-ac61-2c8bb9ac6913 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da42928f-6161-4446-8790-9f039f254396 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4313454-b09c-4c2e-a925-5e52356b12c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96af4d12-81e3-4063-9b8b-94954da86acb phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b33c4ba9-9c98-4fcd-bc0b-16be57f87bca phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ae91fd7-1672-4e4d-909a-c748ddd64fa5 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0bc1a970-335c-40e0-8f57-2ee7e07d24d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b9c61b8-c8e7-4974-8a8f-8dab443be004 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25d8deda-78bc-41f9-8f60-7eab93788ee8 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:353c486a-f043-448d-b409-a9b9bc88859a phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89892c15-73f9-417f-af37-d11673bc5f4b phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a767c1b-e823-4e0e-8a56-2bdf00a62506 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f82441f-75b7-4125-82ab-79bda05484fa phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50e77091-9c8b-49ff-a333-f03657fc3f60 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7078bae-2b97-44af-b2b8-ab5222b0276f phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dfe2f9a8-86f4-41cf-917c-de9182eeac0e phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69146f9e-f639-4ca6-8871-604a187c4fcc phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30eacde5-2837-4fa1-afea-9d527519742f phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96568f67-5f91-4986-b258-613be713a9cc phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b582aeb7-989a-4a5f-a7f2-d7ff242e4abb phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:845aeabf-19d3-40ae-b6e5-d46f4c616d5a phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa66ef84-cef3-4de4-9cfc-399df27795ef phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6a6f192-0cab-4cb9-b7ce-5a60c532a679 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec386f37-c618-4bc1-838b-6c02b92170d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3e8a557-2bd3-4002-a05b-bc57036515b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a116e189-94d1-46ce-8187-61df5a3647a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c4b0861-8feb-48d8-ab0b-0ad294fa4cae phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f89243e-6b67-42f0-a3a7-a1affc20f357 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1909fe1-805d-43bd-baba-fa41d5e01eca phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b27db9f5-1af1-43cc-ad4f-0f4c0cfa001c phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fde19f8f-7118-41f7-bd5d-c2b171535634 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc678ceb-6a0e-400b-bebd-b201592bd58b phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:277ece1e-8a77-4846-a8ab-764fdc57d2db phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02ddda04-6c97-4ad2-a479-78960a30d8f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:107a8adb-2e09-4ccd-b421-9b2f42035651 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fddd659b-3b1d-47ad-a116-7189122d6b77 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:fe941d59-f905-4095-b702-a19b31179ab4 phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:7ce0efd5-5899-402b-9672-a943d1694112 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:38991538 uuid:0ae24f6b-dc1e-4659-87c0-7fdcce201e9a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5e4f5c38-7343-4b3f-a175-eb89bcba3243 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:09942e44-5a4b-4a3f-88e7-9bf2b401d8a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ebd006b2-72d4-400f-a638-c29cd660c185 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:431693d7-7d94-46e4-a707-12ef125181d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0855f57a-796b-4ce4-acb6-42e4797418e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7b86e274-3e35-4587-87e3-ba5539e15100 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ed002b14-b0c4-4fff-837e-d2611cfef8a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:926ff96b-9a0a-4463-95de-d59806abd201 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:256f4233-d9f5-430b-966d-1624ced507e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:aadf390b-3ce9-48cc-88d6-ab6bde7f5ede phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bc001991-8b67-4012-a760-bce14e0480f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:59fc703f-2d18-45d5-a1c6-5ddc2e7e818c phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0153b937-b77d-4a00-9e7a-07d33bff69ac phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:065fd10e-82dd-4498-a1ab-a5533b6912d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4160a354-6357-4b95-883d-4167bf8bb8d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5f5b342d-75f1-4269-8abf-f9e997ade048 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6a4f1f9-73cf-4847-b6e2-6e1285172da8 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:766d17cb-6703-4200-b2ff-c45c5e457604 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f8e3d85-7e81-4920-9e1a-de5b4237f375 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75e18225-9979-4034-a4b2-9a0cc0aafcf7 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5e10be7-bc03-4dc6-b3d5-7d6f170beb1e phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b13c9f7-39f6-4e4c-a1dc-253b17d61d2e phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6c8aec2-b26d-40ef-a814-805b86ace862 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c6fc396-b141-4d28-95d9-b034d9794cf7 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:740ae950-b6c1-4223-acfe-039a64801cd1 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a47b2169-eb92-472e-84a2-32e365bd1ca7 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc8f37b5-f9c4-4403-8152-14cb60b8f657 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7e3f53c-831f-48cb-8c48-2405e0d25d38 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b42fbb7-a07f-439b-b734-5585c0f4c555 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f67e0eb4-6f97-4dfc-9478-d4c1a514ef5e phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef019d08-12cc-42b2-9d49-89ee7a961a31 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:806c9ed2-94cb-4b8c-869c-8ba3c078b788 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0007165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51555204-c9e8-4162-900e-da58ccef6c08 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cda7995-8b8f-4957-8aaf-0635c990ba3d phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0f6c8f8-7650-4525-85b1-e6d73b0031c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6b9fa7d2-f985-4f26-b801-efa368a9bdd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44048f67-0961-49f7-b4bc-dd132abb4b73 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5236c470-b405-44c0-9273-86833a05fa93 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ce4c461-cf24-47fc-98d4-0e4ee0c44981 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eea3a49f-93df-43f8-a10c-80aced116c8f phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc1fe823-6c6d-41ef-af57-0728a64b5ff0 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7aa9083b-729d-492f-886f-ff8857782ce0 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f429ae70-51e3-4bb1-af89-c2457f6e44de phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9c9d9f77-f151-4af6-922d-e085f8eaf354 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1036083c-e981-4940-b410-9c7b11d31f41 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42c7bb5c-0744-41f9-ae5c-d65729315d46 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86f619c9-9168-47be-b5a4-5209c68134e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:263ec5fc-d2cb-4277-b728-7d32873dfea3 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31bb057e-8185-44af-b9d2-2ec724b634a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ad0f29a-8268-4f28-b0e1-34bf891c6c1d phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25ec5be5-3725-4b35-b98b-aea60944ce39 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5340e9c1-ba73-441b-83d3-94641b35204f phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38e21c95-6d12-43e9-8f56-36271e85e5bd phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a8d0144-b1f1-4410-ae2b-5c64f26214db phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86daf352-9a9a-4e02-8920-43ea021abe39 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:455ac87a-2490-4cb9-ae42-bd72ed59445b phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b16a1d8f-27db-4fc0-8278-f8b5eabee0d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c0cc038-1043-4a79-9a17-89449021b2cf phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1a706cf-5fef-4eb9-9c42-69ad18c4171f phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b34012e4-8f81-496b-a38c-1475edb75d33 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80d58dbc-d6b6-4086-8ed7-76fbd6898913 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0dad993c-64e5-45a5-8762-c5c8714b4296 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1bc851c-581f-4d63-8d9e-0ce9e6c12df8 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d8cb309e-ebdf-45d9-a3b0-f2c1aad3c954 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f299fbe0-f770-4e25-a510-7defbaa8a079 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1548faeb-93c9-422b-90c1-3b99fb030879 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03a68557-5e73-46bc-9ba4-ca2d0dcd8f1c phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:499573f1-353f-437b-b2de-72f6fd8c658d phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0654cbb-4532-4e26-8167-8cbbcd6a7826 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dfe9be03-ad56-4b78-9fe2-17eb466bfd13 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48f84614-110d-41a2-850c-ee5efde737b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22b91f29-606f-49be-a7f1-a242abbe025e phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23bf3b14-af87-438a-b984-cc3ee312c8af phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc1a198a-1b74-419b-8d1e-10ecee727082 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a22d98b-752c-45ee-b23f-f29a64a73c5a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b22914b-0932-4a95-aadd-ff89bba51574 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1e2d2ab-5a06-4446-a022-ac092fff5efb phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61ec1148-5459-4b31-9b36-8251dfd8ff60 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6b70628-daaa-42c2-ae5f-66d6d9df5b59 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c5c183c-eff9-426f-a9bb-becd38b5a97f phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d1b9c78-df70-4405-b221-4c9d3fb0a4da phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e03d282-c201-45c8-96c1-087721ff14fe phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ec5edd6-28b9-4171-b7dd-6d56dca6c043 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ae5dc53-8e00-4575-9274-22cfc4183a3c phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a5d367d-04ba-4987-9df6-efea9414dacc phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4a64fbb-b1cc-43f0-9da2-a153f8c38546 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04f17267-445d-453a-bece-7bc6de31771b phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6673d3db-15fb-4d68-a137-1c3e081cfc4a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f76eeda-3742-4dc0-8268-789d7dae369a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9b6ad77-898a-48f3-868c-81bff2756d61 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b40a1c4-9ae2-462a-8959-0616a4e9f671 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f83bf7a2-ec95-4f6b-828d-d680e77df491 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f1073d8-9293-48df-b9a4-98f4041e39bb phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cebfb89d-eb13-4264-9cc4-607379a65d18 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8ea08da-e5ae-410f-b6ce-654a2b74aa83 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abc9195b-bc2d-4159-8169-e4dfac873347 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d1ac097-6b1b-4753-bf36-a3ef0fa6f8e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55c3ae18-9706-44eb-9536-b16f23fd6220 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7139fd2d-20f8-4655-b568-4cbf7407805a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d2385a9-aa87-4029-abca-5e232fec3c99 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abd084a2-e99c-4b83-99d9-cbfb790c2df6 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a607937e-aa6d-4ac4-91e2-b3ebce1f4a27 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d276529c-6acd-4b76-951f-4bcbc24adbf3 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0c1b10f-4fee-4a62-92b3-a8a775665ad3 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db4bc96f-8f5d-40aa-9c77-034cc06c7300 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89cfd2a6-c48c-4660-b379-f2231c3c2dbd phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f9b25ba5-0712-4e0d-8302-f6ce5b9d542a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a2460e4-5a37-461c-9ca8-a2fbe5c9c396 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8604324-15bc-41a5-8ac7-ce00e6da6057 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:daa15b4a-8d3c-43e5-9720-84d3d302dd5c phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db21d456-f84a-4a24-92bf-53940f683205 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cf922ab5-1516-46ae-b83f-68a5f62337c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3cca23d-655b-43de-abcb-588f0507f948 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e98a209-5d9d-4f82-a4e8-08b85d10740b phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42a2cbe6-8b79-4367-8b03-9d32dd5b0e3c phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80fa2b6e-deb2-4d63-9d21-b52798cd2412 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:839916cd-c142-4712-9991-aec943c77cad phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:049718a3-6d89-4734-afa9-cee0e0996e55 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8007773-3fb4-4e7d-be9d-5c9ceb127a00 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cd4cffb-1e9c-4b50-875d-0e22c6cec31a phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:863482a1-7d06-4d6e-ab3c-fefa4a97e755 phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:b29154aa-9074-4c15-974c-8de943d2f403 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3828a0ba-2e8e-4730-9ce6-9eb0edd155b1 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:48c38a24-423e-4a42-bf3f-3b7c37822f46 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bd458203-9486-4e32-aa1a-07bc19907850 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9c107ef8-7af2-4937-9431-095dbb78b2cf phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:de340ba7-e69e-4796-a961-8e6957cc5e45 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c3d6d64c-3d34-47a0-ba6f-a0899414d8ef phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:184999fd-5098-4fa7-909f-316ad416a2e0 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d0138be2-9305-4e74-8a28-b057bc5e1ab1 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:fe23fa87-9450-4ddf-8166-7713af67d0d9 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:592ca3fb-537e-4b40-a756-e6ffb281d8a7 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e4381b9d-b11f-4a7e-ab24-52d93a09e612 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:aaf74630-9229-4176-84a4-4bbd8c8f901b phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:091a473c-21d6-4c36-b6f5-c68122fa2a1c phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:25b4df4b-1e9f-4bb7-af36-917ee8a92c1a phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f634ba8c-4f45-49e8-af80-aa3cb404bb98 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f3972b03-f342-479e-bb38-76fee61313a8 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:27cd54b4-9309-435a-9662-584d08171485 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d0131ad8-9f4f-4c36-b5ce-b9b2e2fbfd81 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:763a6ecc-1104-41b4-8280-165b589b2e31 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f442e9cf-e1fe-43cb-8d96-f81159070f61 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cf2bde94-0599-4d00-9b4a-1788c7f6f8bf phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e7957754-64ff-4a4b-9abf-940bcd7874db phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:6dbb89dd-ee77-4852-b0ed-690d9925bbe3 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:65bc6286-c10d-4715-b739-c9724a85e916 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:bd358ace-95fe-40b4-b27c-a4d9b66857ea phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:855d8161-fc70-436c-b454-2c927704e93a phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1be106ce-7a65-466b-8904-fb5daa134331 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ddea2051-421d-4b2e-bc89-d32fc58c2708 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f7507873-eac6-4d80-9b03-73ad1f6fdfd7 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:297ea317-fa0a-45ca-a204-ea1171def2b9 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:35b4f1be-00b6-4e0b-9ead-a63ad4b12692 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ac19cadc-cb7d-414b-8102-5b8d91e3c3d0 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:93346a80-7f26-4c53-9ec9-d0a16ce10d39 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5e235f4b-2c94-4521-ae37-ec32a1935599 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f26be019-9a63-47cc-991c-84d50c449a00 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ca6cd523-4c8e-4385-9f2f-d00b7cfce08b phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2defd31d-c25b-465d-981d-54fcb0d30b51 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6d39d82d-d06f-4e85-89bd-2937c0a9ada4 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:53be00c8-ea6e-426b-a126-20e18a60e8a9 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cda899f2-6ecf-45d9-9635-dca028d4b774 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:59157ca5-7cbc-4dbc-afe4-b510a6e686c2 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:646027e2-650c-4502-9b3c-f5e3faedba6e phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:eadbd3a4-bb96-4249-8294-f7e22b49253b phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a06f8b67-d55f-49c3-ae4b-88a9b0870ce4 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0813a31d-e8fd-4388-8291-be8ab352c7e9 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:593b845d-e4e7-4c11-bc65-300062fa4a36 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:59577ec9-ab3d-4bd5-9c50-c816b97ddfbe phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:077fa089-e174-4933-b09a-91f601280f5e phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:54037158-fe2d-45d7-91b6-928172aae720 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2e0ac42f-d2fc-4f58-88d8-75d187f9cb9f phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2ab41e51-308d-449a-be15-a7132b8e5eb0 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:629f5cf3-5163-463d-b3c8-a6bb5d487522 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:02b8c071-b1ce-4314-b711-8059f0429048 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d5434697-2997-47c9-9962-f425ecee2181 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bac487c5-299d-4f11-b36a-79eec024b4ec phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2cad1c99-f6de-4719-90ca-5ccfbd9ae1b2 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:48ee511d-0c20-433c-92da-fb98f12941e1 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6013b908-a0a1-4fcc-a630-35179c8a0b4e phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b2b32c89-1375-400e-9fcc-201e2107d911 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1bd6b290-20d3-49c1-be64-76a009a1d949 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:74348816-6d5c-4505-b169-1539eba26adf phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:169061c9-c4a9-4981-af46-15296c20b067 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:abb28cf1-5f53-4355-bc1f-be686bb682c9 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7b031cce-28bc-47bf-8ed8-2be9c696887e phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ad554087-550e-48dc-be7c-ffc77c9fc963 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d8f9a3df-cfe5-4524-9fe7-c3068e0317e4 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:976c895f-0b03-4175-ae12-bd78f303abb6 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f15adb5a-c5f0-45b4-ae40-1506e0f33224 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:4469d9ed-4b78-4710-a99b-98e0f9505f89 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:96ec2374-6407-402c-be58-adcba46cb1b3 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c0729591-d425-46b6-b121-a41894dcbac2 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:236e69de-67f2-429f-b370-24fd3db9bb73 phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:2ddd3f59-0d50-4638-9a5e-6205047e2d7c phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:b73119d8-5dc0-48eb-ba4d-848e87aafa51 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:00cca802-8f85-49db-914a-7dc1ad7a3221 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:003302f4-4529-4e70-a012-0763c1a3e266 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8a59774e-29f2-43d2-9e84-dabb8e512e3a phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dd99e4bd-573f-4708-9b04-fe8b3fd67a77 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f649c015-3207-4cf4-ae11-7badb513f95f phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:249c66a1-0ac9-4756-82d0-ece593ac98a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:89ef0341-4431-4611-9cbb-9f1c6455f3e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3b575d94-b0c0-42d5-95ab-70f30a9837eb phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a2968cf9-d83c-42d4-901c-7d35ba8098bf phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4eb817a2-c5ca-4623-8c32-9099e42c6264 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:497571ec-addd-44fb-a867-1b029ca2feb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6d770e51-9676-4926-a957-7f78cb1fcc62 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad302c6c-95ed-431d-b901-048c07efb374 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38a8075e-0904-4ef8-b33c-a6174d65b079 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a7b7ed6-52f0-4eef-8f00-a03271d79ad7 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb5506ba-929f-4583-a1d0-3ac2c333930d phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7149cba2-7294-494e-b969-415e9209659a phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71ce2b24-c04c-41e0-a6a3-5a0acc1b78c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5aa7fdb9-9ae8-43f1-b0ae-22ef0edb3a1a phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62aaba7e-ae93-45aa-8890-39593903ec71 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6636e92-e627-4a12-abed-2266bc35ff94 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:13078eee-108d-4d38-af0c-e06be4cedcd7 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf2b912d-70ec-4ba1-acca-339c99589b56 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5178689-0228-4ea3-b6e8-f37f866c1d1f phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8805cabe-00b6-40ca-a494-8060e2f4605d phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:353a24a9-0e17-4279-b891-cabc163eb7aa phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da7f4929-08ca-4445-83c1-71a84a7eb920 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e6ea8a9-b378-4825-9bc7-f6d2956f24c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:87f3b1c0-d610-4c1d-bba5-513fe0a13799 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb766107-81c0-4dbe-8ddc-6b3d5d8180ff phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:886811fe-aa48-4fc8-a16d-ea803d46852f phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49014726-9807-48fb-aeec-5eee3b0b5513 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5762473c-0196-46f3-a30e-a55e618ebed2 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3ef3f86-e1c5-48d0-af00-3710576b0d2b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b392189-2111-43e3-95fc-06cef42dc854 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18fe3b77-d991-4048-a6de-1f2b484f00a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bcdf7784-27b4-409d-8054-aac92d386761 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59bc3f73-c4a4-4e70-a563-4baf0f3f6566 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e167c4d-2354-40a7-8e7a-ca0858a3a085 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12510df1-de82-4f59-8cf7-02f51029ac6d phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc8e2476-f0e4-47dc-b67c-6321bc1ebdb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5441c35c-25de-41ba-98c5-a6cea69027ee phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a685213-4ef4-43e3-8ae7-57392e139553 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a91fd3af-4897-4e09-ae92-fd9d4a0e7c33 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:051ac787-aa90-4fb6-9eca-700769766ff3 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67f140f9-4647-4340-96d1-0804c4a5f0a8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc1b6d11-24ba-4e34-b4f7-9f52d8e7cb3b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca5dd18a-cfb9-4fec-87af-3db6730af3c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:489b2963-01ec-438c-a348-1dff9bc3c6ee phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:990bdd03-37c3-47ae-8a95-86c5b82c8d10 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6ff3788-0854-4139-b95a-5dfda99a6122 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bc0a229-5ac5-4803-a6aa-264412b6f690 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d05d461-4f1e-4ec8-8e26-5a7bb19319bd phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd961d55-1a6d-4f0f-bc93-1f7c48b57f0b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38a006a0-9165-4a3e-9906-d9d6494697fd phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6de906b1-2807-48c9-a701-f22d084f4288 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bb07372-f02c-4fbc-b332-607e608ab43b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6637beba-e008-47e1-bdcc-86ae11d08221 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d3ae28c-ea7d-4cc0-be9e-d6df772b8c41 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c274c23-b9c8-4cbd-b4cb-1cc88a4c3947 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be3fb6ba-28f0-41d9-96f4-09c73beb5945 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:824eeaa3-2b3d-4a8c-b763-a59222bc5ba4 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1c4a2e11-7f01-4b19-aa7a-7a64d85ce7ed phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7290fe8-618e-4c6f-bd1e-c8f392b209eb phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9dda329f-b9f8-473c-8c6f-1cd982b5ab94 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37b49824-087c-4d17-bed9-9bffaf9666f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c92c3bc-9326-4497-99a3-c224044dc65b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d11c9b59-ea86-4c1e-9a9c-f1ba95e62016 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd9bd152-c135-4e6c-9729-6b86dca6b1fd phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fba5ed1-4b42-4253-bff8-ae9a51f6a689 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8b84c33-f90b-4435-9d5e-0ecdf882b75e phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:713b2bd1-b073-41de-b93a-50e99d9ac5b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:238ef14f-fe4a-483e-a3c5-f5b4e0af179d phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0f7a6fa-a427-4d25-aeda-078dcd4e7372 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90a7f2ae-5fe2-4ced-be9d-50a1d84596b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49da71d8-5e06-4fd8-90a1-a02cb1a87079 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:030e6918-5e79-422e-82e0-39f6f67519c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fa31a0fd-c335-4b80-95fb-b8366800af49 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9c2e98d-2875-432e-bf8d-adbc772aa90b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02bae0e8-8d8f-4e7b-87b0-038c4df40534 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d14e008-514d-48e6-b6c7-3348239ec24e phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4864e627-8425-49ae-8032-8462b367811b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48b890ad-b7e9-4adb-9c37-993f3ed1f496 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d0d7879-f60d-4f94-b991-31b0c3ee5c96 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73bd47b3-538b-42ba-b8d8-ddffd46eacf5 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9bac32e-c42d-478c-9258-ea16e6239927 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:055ccedd-f3e4-47d0-bb1e-cebb6847b149 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9721b94e-9a5f-42d7-822f-f6e840d55476 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9c3d19f-bfb9-49ac-8051-121b52491ef0 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a614036d-7eb7-437a-a96f-87ace3e4a25a phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d5c9f32-4da3-4814-aacd-644bc0711f83 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ece042c7-dd92-4c95-b82c-ff0565133809 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6cd566a9-e87e-4f2c-82e8-5181529bcf2c phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:eed17fdd-93d1-4ec7-989a-be021da06ab0 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5916f36b-3fff-40d5-9be8-d6c3d90920a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9502e676-2f9c-4fd8-8609-35eebc2bde76 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45b474af-3c48-4e06-a8a1-354cf682b09d phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9886208-5675-449a-bc9f-bd61c4254f43 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5191dcfd-dfcc-4f6b-8231-3fa6cde38532 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:607692ed-195e-4046-a4d9-ca554771a63f phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2d48776-b503-4aaf-9f14-b7f621bda169 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:087ed7b3-7405-4d13-b3c4-eb79cd4a1636 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0706675-108c-4dbe-992b-cb40bbafb139 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86c1cf6b-5ecd-4d88-b879-764ab3710b85 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e1f75c3-3120-406a-9301-978f5ceff6b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d89c40c-98e6-4f88-a111-50d92cd74d09 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9776f059-ffdf-4310-9a12-68b1c6b67e0c phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:351bc0b9-560e-4cf9-89e5-bce3cb49b7d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5133417e-b53b-454c-b43c-e85dbd924914 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:525a5594-9f18-451e-a7d5-0579ad51da60 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:041295fb-c3c8-4f9d-821a-6f8583d3d05b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6655a6f5-fd11-40fa-bcb0-921fd9655740 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ddc43d8-5097-4039-81aa-7c4eaeb48416 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a055529-15b8-4ffa-ac28-907b4abe6e49 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:72153f22-7a90-4d69-8f70-5711a07d89e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:660f07c5-231c-4afc-9447-674836930ea4 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3d84020-e9d0-436b-8227-86765f150bc8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1472060-b5a8-4d35-99e8-91df40ab71b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80092ff8-feda-4b29-bd6a-63b348a02b00 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:18d83fda-5a8b-4a64-928e-e462312a192b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fedfeb19-d75d-4c3e-bf28-5fb827458031 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17e45bcc-8417-4c6b-a6a3-7d4d89520faa phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d805791c-2b53-4a8c-b639-6010a81eea54 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b395b4e3-6b0d-4276-bd8f-4a8bc557566f phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b81ad2ae-7402-45fe-90ef-e39bce1d1eca phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc68644d-cf63-4037-bcd5-dcc5229ec111 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f31d5ad-ce60-43c1-a7e5-7a2716a978da phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ece4f60-c69f-4d7c-8095-44377472765d phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f56e01b6-c827-4cf3-bc42-220d3b4dc69b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1dc19655-2c5a-4eaf-b2cf-a832c368dd67 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a246507-c31c-4d22-885c-a4ed54bbcd59 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:366a2063-9ec1-412f-af58-0dcd4282e045 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3772864-dddd-4099-85aa-2082f918416f phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38bc0db6-c524-47a3-9339-d19c36dbc739 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:95e5d5a4-bb92-4cee-9255-3a8049e2f7d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:230b22ad-8749-47fd-973f-2960e9acbc9b phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b84eac5-b149-438e-8c95-ba6c906a5e85 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:abeddba1-5071-4613-9304-f0c5273c3e19 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5ba3eeda-ec82-407f-b69a-63e859830e3a phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:772a87c9-6c0a-4a2f-a59e-19f857dbae03 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f17a29f7-e750-4cbf-8482-54b8bdfaf678 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d733de95-5216-4ad2-b2ac-bf226ecf1b93 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a865effd-32b5-476c-976b-315bbdfea255 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b632fc53-4d5f-4b0d-aa7f-7b39f2d23f74 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f063f27-f94f-4fcc-bd35-45729d4a9dcf phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d27968aa-a162-4356-bc93-55f87e66f270 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78eb2547-c79a-40e0-83ab-fed48928db55 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8aeb0255-bf43-473c-b2fc-d5e101f9a0d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:263673ab-6b59-4f06-90e5-e7e172726d81 phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d757c79d-8ce1-4841-8272-d1437f42e7f0 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5b56426a-4bd4-49f6-b153-016a093ab17f phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2014f2a0-08b4-43b1-a9be-11f12cfcd501 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:02becbf3-d21f-43f3-b4d5-5031a62e0818 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:6f1d7b3f-8469-4eef-9955-167082fee27b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e71fa6b2-ac53-4809-bc6d-1baba4b7729b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:57b8c209-6384-4d90-971b-ffa00f75ee3b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4e0d1f0b-342b-475e-ac69-ff05b18b0c9f phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1911f94c-5daa-4230-8550-a45634896c54 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d9216ade-4935-4be1-9c00-a8952105501e phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c7697ed9-d08a-4b1f-af6f-2150b7304cea phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2177b456-5a51-46f8-8640-2d25fae30b9c phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:79a67a06-f1ee-472d-aa2f-6115716a470a phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f0b1fba4-0992-4a7e-bb6d-a35bacb0f792 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9ecb63dc-56ed-4954-abe1-67dc33c117e4 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3fa502b7-a88f-414d-89a3-06b06a486f28 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:af510b94-4f58-41fe-af3a-e84919ce9df7 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2585a141-433a-48dd-b17b-538cd2f2d73a phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:357aae82-beec-4924-ae3b-503cebc51f78 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:89467497-7d55-42af-84cd-1b4ea39d2550 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:246e7cbc-96d6-4929-b053-e301a5c8f8eb phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cb8986b2-ef00-452d-903e-94cebfccba26 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8f78b0df-08ea-4db4-9a96-e0d812f11e43 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:1b845375-fa76-42e0-9b19-78f39c9e3b62 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c5013dde-2651-4af3-b152-cac959d0e4de phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:31debc50-4364-484f-b3ba-f004ed113af9 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f29bd8c0-9adc-4115-84b6-d0d74c53400b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9cdfcaff-e058-40f3-b989-9565f0335dd3 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:27bdc9f1-b8ec-47d7-ada9-0e2204f5ca19 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:4737690d-290d-4758-8a62-f5ec28049371 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f41b264e-3801-468c-b089-2b25fc5701bf phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fdac885e-2aa6-460e-bf7d-afb44aabfd57 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9d379dee-8edb-43f4-8843-ce85ced28fbc phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:043c7714-2532-4508-a5e2-dd0a22b902d4 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:e2f9ca40-da47-496d-8b1d-6e4b0e6ecd4c phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:73388da0-f312-4d08-80b1-3af34ae542d0 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f2c07ab7-784f-47be-ba56-f3b354aeeeea phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:220b64bc-5ef1-48e5-8710-0d0bb4665197 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:987772b2-985b-4eb6-8319-a1156bbdc645 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:98115056-f047-45ac-9627-483b659bce11 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c643a9c5-0540-441a-9928-d51fc63952f8 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:7d2fceac-144e-4ce7-b9e0-325acfad8b5a phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8d17810c-e19d-4026-a7c9-a4e216d7a6e1 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d08b2835-e55b-4bd7-86c6-d38860391d7d phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8577432f-4409-4d56-b806-d8342b775d35 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:545a1388-466b-44f3-a40e-58fe1b76d6f7 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:53cb2f40-7733-49e7-a9d8-0156d948bab8 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:81bb312c-a8d4-4199-9849-5a89e366cb5b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:40cdb93b-be72-4ac8-acb5-01a581d8da04 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:46d44028-d703-4f13-9010-1667ac12b520 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a1f9b489-eacf-45fa-a957-654448472c64 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:929a47aa-3e1c-4a39-8910-7658d75d95da phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0e5e8072-2f95-48ef-a980-41399a63d42d phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:45a28401-9db9-4148-9ef9-47f267163cac phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:889cb65a-38f5-48a0-ad83-0126ffbdc91f phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:21daabcb-81f7-4804-9827-ce022cc6ccd7 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f30de757-bcf6-43f8-96ba-d3d86dba6f4c phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6b0b3d71-2fa8-40c9-bf3b-f5b8ecfd2f26 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:dab94499-0f58-4496-b775-ec5887a9ad0d phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2f616fdd-fe3b-4cd4-aae3-537b65354d25 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:bfc13a57-131b-4e17-8c93-c4ae21d98aa2 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:152d39f0-3756-4a56-9fa7-6cfc94eb6e64 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:88635a54-06b9-4bca-b818-bbdc9f676ba3 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:52f95351-fc1b-46da-96bf-f1cc91d1887d phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3f6b06ef-9dbc-4391-ad99-34797818a288 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:35565d5a-d494-4f11-b6ee-8ec03797470e phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8a68de6c-6f67-4ed4-994a-3e4c5ea59cd3 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:af80845a-02b3-4dcd-9ad6-4d2173b88135 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5de2f11b-3915-4c2d-beef-d7fa5b72948b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:64d52d43-98d5-478d-9ae1-7d8fde0ae23b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:143173e4-82e2-4ac0-8f1d-e08b64ed125e phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b1aab58b-4f6c-4f78-b195-8bfda3778b73 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:813c913b-44f9-4e06-bf8d-22983291972b phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:4e92e16c-c0c7-4ef9-bd9c-a572007b20f3 phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:424f8f0a-47fb-47f4-b473-740897bcfd74 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:39369315 uuid:15335d4f-3257-4d3c-bb56-d4d2217b9345 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3deea404-ea7c-4a1d-91fb-2d0f718afd6d phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c9919a3b-3474-4980-b307-7fd0d765c103 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c95b7b1a-a9b5-424c-a8ee-e563b13d9ca2 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a90ec7f2-bdf6-4c17-97cd-3cdf49d99a6d phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:02f9596c-9c2e-4cbe-b2b0-482d22e24749 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0c37e4ff-8824-4ebf-878c-99c91da1151b phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5627bb53-ec30-485e-be93-6c44cb1b003f phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2ad51ee8-63b6-467e-b7a6-2099108a2470 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c0d12737-b344-4f05-847e-1c8dfbe0ec98 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8656374f-ab2d-49f7-af44-7a2a51b28113 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:98063ec2-912c-4284-acee-7dda0a5f1720 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b02b9f68-9a21-455a-8784-944c307c8028 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2ec80eaf-bbd2-4cb3-85b9-4e8d493363ab phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:155e240a-372e-4666-8798-826e273901ec phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5412f38a-b696-4fb5-8607-14c57d2d03a8 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7d125fe2-e1e7-4d24-bf33-f417cd50928a phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8f0bdf5b-cfc1-48b4-b95f-4081db5a47e6 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d3f4cbce-d580-4d4f-ad96-34dff5452017 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b1870ae2-1b10-4b79-8419-e3c08881a9c8 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f5ecf754-5496-4792-b42a-a9b9ec6722b3 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:7c3851e9-8ad1-42b9-bb6c-1b7268f029b2 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c675c1cd-799b-40c3-98c5-2eb2aab6805a phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f9755fc7-2541-4f35-a024-28db5aa5774a phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:94fc54ec-ee4c-4ff8-93d5-d8f7bd3349bb phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:79af81b0-1793-479b-9260-c48f7c30d1db phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ef5e184f-fad3-4f19-8dde-46aa2d0aa84e phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4869656b-3fa7-4912-9bd2-42a6b8c03ee5 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2635167c-56b9-41c5-a3dc-bee863a49420 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:debb8bcc-784c-4493-bdb9-b12c0bb2a444 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a33f6903-f87b-4327-8430-88677b02898a phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ae87aec8-0f94-49ca-be93-420e2db62135 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:3248022d-4202-48d4-8675-0580cd500137 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:fab2e7c1-4430-4862-a85d-ba4b84f35adc phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b045b49b-fc66-486a-8b9b-44eeaf9db741 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:39136cb0-c064-4524-9219-dd422bb97146 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:33e4cec8-3cf0-401f-a77c-3f8fd4767c4d phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:da97eecd-da67-46ed-8dc9-57ba90d89348 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ca59b681-d297-4269-a87e-e6d09835edff phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:fb4913f7-ba44-497a-a35b-8cc35c8fe4a5 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:baa6a2bd-0a57-4693-bb48-1f2600358bc5 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3a7cede6-326c-4739-b5c3-e09ae5db6ab5 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a0f1d3ca-6bac-4bb5-98e7-d64549fb4927 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d75cb0bb-fb8e-4991-aed9-dd2d4c338f0d phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ea74be8e-d3db-461e-87ac-729bd519695b phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:efac434a-97fa-4e8a-aefa-6d153de74f76 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d39a90c9-257a-4c36-b277-48318ecf560e phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:46aa9e62-9603-4d12-b627-ed6455605421 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:4a0e96b8-a694-474f-8627-e73a0764958f phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ecbd696e-1d25-4fb9-8430-25b8cccbddc8 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:04fc375a-a3c5-443f-9790-41c3e819e809 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ff50dd8c-7935-4dd4-bb9e-13e8d1d42f78 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ca6a247f-fb31-4e27-b4ab-ac9cae748955 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:280e58e4-0acd-4c6f-8db2-976d73581ac8 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:eb578436-6e35-4e70-9a9a-173b0b811eaa phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1299270f-4edd-4a6d-9767-f94b4310eda4 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:34f8d03a-b096-45ce-ae30-9027fe08cdc0 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:1e5bbd75-9d16-4a38-9fc4-ff60ba525934 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:5510fd7e-a37e-4d79-a8b2-7eeabf8968e0 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f4bf560f-9a69-4912-bc21-961de58d67d4 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:20d1aa46-b7f5-45dd-81d6-df8c6d5a2090 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d5b6505b-de77-49e7-acf3-b9bcf34e94d2 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ac2869d9-9618-4162-b9d5-6e24d355f4dc phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6e7bddd1-ced1-4ff1-9818-fe1fed9d44e0 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ca2e0323-b5be-42a6-96f7-af7ee277505e phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c51c1308-dedb-4a31-843a-0f4f4e57a8bd phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:caa24bee-4ee3-4fb2-a877-1ff441d00e6e phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:d1cddae9-8bb2-4c5c-8a4b-aa7b79d89089 phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:9b429e6c-8eed-4531-b452-10d7782d25a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:33d73663-05a3-45d2-8760-e08f11bd47e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e29bd462-9cef-46ae-9ed9-dedfc066079c phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c0fadb44-ac40-436e-bbf7-19c0e96ff1d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c5d75014-6c80-4448-8d1b-08bf253354a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4402acea-9222-457f-aa9a-dc0be93a179e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:50721922-ebce-4dd6-8e3a-7eb06c8e280d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:01bef4ef-d98f-4c61-9b7d-483b1fd83de8 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:611e80a3-2102-4d8b-bd37-4332550e9e40 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3ec591ab-2e2d-4a78-ab7a-056fd80c3283 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:823bac09-6702-480e-a26c-72b748f8d4d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:832b1209-5a0e-4938-a331-c5102f4beb05 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f020bcb-e0bd-465f-a7e6-965987170b37 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01eff69d-47c7-467e-b816-3ec3eaf29c7d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e2dbeef-a84e-404c-b04f-d5974ee27cd6 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8627247d-8ffd-4428-96a6-0a37a3efb32e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f320253a-05c3-4999-8c9d-0c19689e05f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe90db00-a81f-419f-90b2-d69f75e44c8a phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d862e818-bc7a-4db8-bebf-412c84a23c27 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55f030af-9b0b-4398-9f97-b147e6520c26 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ef6fa19-cb59-417f-a58c-ef15b248d6e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2aee5785-9079-4089-9060-a4e9721d8a80 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc28e9cf-7999-4ed5-a33c-67fbff405061 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ae4b4bb-bd27-468a-87a6-273e7fc12bdd phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e72bc8e-2f69-4db5-9dce-685fa0d93366 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69e53acf-0871-4565-8846-42555a105bc1 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3b75918-ad91-46d1-8d59-ebe1923d3a57 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6126659-b7b4-450b-a247-e170c642f5b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d192941-60ed-413e-a522-231f520ce1ff phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd813fe2-ba59-44cf-944b-ca41a12666da phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:079a80fa-c3a9-4caf-a76c-e9da6eb9fc87 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a903729-d2f0-4595-93e5-99df41c72d1c phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1ae9669-180c-49a9-9460-e0f4cd490f3e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ffc1239-71fc-46f5-97d7-a6db17691f4d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:21e47588-5f73-4909-b819-a9b3d3da50e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43acf904-aec4-432d-a2d9-310ece448ce3 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:baedc05b-eed0-4f46-8838-a8cdb2598118 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:093dabfb-83cf-4f8f-97f7-721730c75746 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e84c37f3-09fb-4df6-8d6e-83c2603ad22e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28b51f3c-2b77-40be-87e0-143b06656b29 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:864bb6e4-7e70-480b-b62b-cd3930b626ca phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fd5382a-568b-4012-a681-fcddd4800fb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:041aa3c9-f9d7-4454-8f44-206bb431fc05 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e78815d7-9ff2-4e7f-9f2b-941ce8c74bbe phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1d826e9-a8b1-4b01-a1d2-b8c9454b9fc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d53d224c-ff86-4648-b482-bb0c15058f29 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ec69ce7-2144-4fc5-8f62-d1d999f034a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:198aeef3-2a40-4322-aa04-c17f4e63b685 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f7c5b0c-626d-4a7f-bffc-49e3c7dace1a phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dfa6b0d7-bba3-4916-9a5d-ab3eb4d22628 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6f67482-4ae4-4e9a-89b8-0181dda19a1d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9562070c-61e3-41fa-ac58-d749d3a60890 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f52fee2-625c-477d-a319-87decd6ef079 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16531990-e22e-4bc7-b8f8-80fe525453d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c9a3eb99-1b56-43fd-85ec-a9248c2396cc phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5dcdc90-a890-46be-aa55-be91006e8ae8 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37c3510a-fb90-45a6-bfec-3d6b47bf52b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0adab68-8bfb-4bc0-9236-d6ae09299357 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d32fae0c-535c-4ca6-84fa-4b0d99c58fa1 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5e0f9db-ca76-449f-a9a6-6f77596ce46d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0e00a75-8a15-450e-99a9-45947ad3e871 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de4770bf-fb58-488e-9851-00930a26b3ec phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:415b0d57-fa63-4880-8b5c-92edb8028599 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6aa3e063-4245-4ad3-a55c-6b1d4abc4bef phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f7c8ad4-2e3d-469c-bc63-039e1cfc11b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ecd09139-edab-424b-9180-32690bbccc51 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d901dcb-7b80-4cd3-bd67-6fe2de2b1432 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c6d0cd9-1db6-4d95-890e-a25ff56bd50a phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b799b24-9c90-4b1a-8926-3164e279db47 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ea1ce46-194f-4dab-822d-988ba3ef6fa6 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1c4a794-5f72-4192-8474-a295c7ae86f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61222b56-4afe-484f-b3c3-b2716f8b8ac3 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d01e459-65c9-48fc-92a1-ada87fd8330b phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1439679f-fa11-4745-84bb-9f015747b9b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17448505-3e4d-484f-8aaf-7bb14c9d1b18 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5af86c1b-20b0-47dd-a66d-28f4e1698b4c phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1573161-55c9-469c-b094-71a2a6caed09 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df885a10-8789-4283-9fef-09e8ffeefb8a phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d96eac3f-35c5-4320-b77f-5ddd62cbaf09 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1c481aa-0f72-48d9-b3e5-dbe741517f45 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b04b2982-96e8-405c-bf10-74acbd85d114 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2cd2982e-94c1-4565-981a-3e041e3c9aa1 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba860836-f32c-41a7-a436-2e9711a8dfb4 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44780c17-9ac9-451b-a3e4-98db66e0f73e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:814dba6d-accc-4626-b9a7-11faf56854d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:901f4d9c-d87b-49bc-8fff-dcdb4b9912fd phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43ebcb1f-6fb5-4bae-975a-9b73f7f21ec1 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bcc4109-b696-4464-9294-5152ee568863 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3d98f11-7555-4308-86ba-b5c127fd034e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4823d62-7395-4d83-a1d7-8b1275c77957 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af318f94-e517-499f-8d7d-23bf7f69204a phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82c32f4a-39e4-4f5c-931f-b8d901a9078e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8314c3df-9073-46e7-8c6a-cb9c3175bf23 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:962e7e43-f00e-43b7-99cb-6ea07f36bd0e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ba8e060-484c-4259-becf-ff66c33cbc61 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b87fbeb0-e2af-44b0-b9ea-b8ae0db5ccab phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d31e7db-0d9e-4e2b-86e5-adaf5d5f3e73 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad783bc9-992b-426d-bf14-e839dcd4eb8f phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30276d5d-1664-4441-b446-c861f537f0d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cd83996-cd6f-4a72-b6d1-72633e4088c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be8e9ff1-14ae-4155-b24a-ffd7d89c66b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9311dab7-5806-4671-b9c3-7622faaf5f02 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46e8f5b4-48cd-4171-9a46-97680a0ea8fd phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8936225-b7fb-43c4-b4b7-3b9eba6a32ae phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51c5d13f-357e-47ce-9d69-8cc9ad34ca63 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bdf63eb2-48bc-4cec-9918-29b7cb052001 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca168d88-57ce-4768-83b0-a30722b75340 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b85f8e55-9b9c-4eda-b959-6a1fd18f1990 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f8dd6c5-d5cb-4acd-9190-8b32840e58ea phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3052ad20-64b8-4070-bc99-6d7940c7dacf phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1db04a19-5676-46af-8d43-352e2b7ebd02 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6f090d9-7d4e-4d56-b378-d338eb777673 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4567ac40-c2c3-4acb-955d-93b8e6dd2858 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad9e6687-e144-4da9-98d1-4d0218c4a201 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cef304a-fc7d-46d6-99f5-d30381509934 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9989cb8f-9339-4604-8a64-8e55d8b9c308 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c06e294b-4534-4fdb-b5ce-e7828541c4b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d2c104f3-ea75-4df6-9e57-19e5e630db16 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34277649-b2b7-4fb9-bf01-076c72e40b1d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5361ed96-d039-4492-b204-ba2200bb0d95 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d9d9111-3871-4c0c-a76a-5355742bb5a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c662e37-807d-422a-bd4f-cfced9da1d79 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48d3edce-fdd9-4ff2-beb9-f50044336239 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:451d9bba-d180-4de3-a70b-fae15e1bc039 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e37da43-9884-465f-b49f-cb6e1e24fa4e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6fec10db-d4a5-4011-be0e-2db8f9024fa5 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe37323e-b6dc-4a89-a0c8-07987aa62a79 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b48a5c31-874c-46bb-a1dd-02ebfb52dfa7 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43b356e1-454d-48c5-af97-e65681b89f23 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57ad6418-cbec-4db8-b189-92b87ebcbd31 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39963a06-7865-4dd9-b6e6-7a12381b76b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:597c9f64-b600-4c59-b2ff-0d007a021aa2 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fcc6138c-dd7d-49ea-9a80-2fa5eacd5b41 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c0bc3e1-fee8-4865-a433-21b2edaf4c3f phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc007388-3f48-456c-a3b2-a210a4bb2ec4 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a2c2db7d-e49f-4d8b-a688-ef2854e2e853 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb6ec503-3917-42b2-8ff8-1f8121ce18be phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acb632e9-acde-43e2-b22b-91ff6eeea993 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b28e15fc-c2ce-48c6-81b3-d4cce6a01e87 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9379f30f-5db1-4ebe-95aa-de606fb4f8b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2de3df25-430c-4bae-b3b7-bf4cc2be8371 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8a32ba17-ed3c-4e90-b7c8-749d8c609e35 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d52946d-798b-47b0-9d98-f4d13e9b7aa8 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:232fcf30-1989-4ee4-bc34-5d6deecdf93d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:430cba58-3193-4292-b8d3-c2f3d6679d2d phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ecf946c-d169-4018-a92a-e150a51d4afb phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a2ca14a-dcd5-439d-b662-3cc284d7f5e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f20d28d-d05b-4fe6-a1a1-928a92366f1e phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dcace9cd-3922-4ec6-aae7-a4b677d5beac phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:fe53dabf-b353-44f1-8f0e-88d4cafeb114 phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:fc1811f6-6509-4828-bec1-8445d4f51391 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:38991538 uuid:9612c1d0-464f-4b90-8dcd-eb8ea8a266d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:198be447-6783-432b-aa63-dfd2ac95c73d phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3f006ff9-f4a4-4a1b-b704-a3b5698353b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fd921840-6a08-4729-8e58-6c275d3b69bd phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e23f302b-e698-422a-a628-b73a634a1f7c phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fb2d7ac9-407b-4ea0-b305-2d9ed2cb39bc phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:4000079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8a20ad5e-6a0f-4479-9e5f-c48e16f9367b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b07d5391-f4cb-4791-8ee0-89f2299b6928 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b08728bc-7828-4df9-83c6-8a5f0ccdcdfb phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d5f45bfe-b42d-4d90-83dd-1d946f2b7bb2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:293569b6-d5bf-4972-859c-12bea0345065 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:03758d79-a1f2-49d1-83ce-1addba5dbc7a phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b08834ac-3b1f-40dd-8599-4f50c581e45d phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3eb23727-4bb7-4cad-821c-395d529b2c9e phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e03e8c95-33b5-4ab9-974b-0f890e9eaa3f phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:771b332a-567b-4dfd-91eb-ecb15bd293ad phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aee079bf-9342-4721-95f0-d293813a49e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f5fc513-df1c-4877-8dbb-c9f3979b8288 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b0c308d-e961-48a5-b9fc-4cc220f94ad2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99ce33c2-708c-4e75-840a-240a0301feb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0aea213-9727-4cf7-8903-d7a83d691663 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9aedc85b-77f6-480d-9128-c4f4c2d9d9c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6cac84c-8d72-4241-bfb8-ef3518d387db phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1ae1ffb-0ac1-4500-8315-51e5b89790e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5678b5ba-e923-47ab-85a3-5b756f169618 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f35464c2-ad55-4266-8b60-f284815de452 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4fbf217-a20f-4806-8cd9-887f72555178 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4800c3e-34b9-4a70-97bd-b6a7dbb34cc1 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc06870a-a69e-4e19-bfd1-8741732eab23 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e20f199-8116-48a1-bdfd-37e0154d5a35 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d92b4a9-c147-4056-a998-6ae70bb18bb0 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71d0a42f-447d-40fa-a669-4d3408e2853f phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31d0d90c-bdb0-4086-9f8e-93801247a00a phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f237c7b9-9a44-44ad-a1fb-23f3e76d590a phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:719cedaf-a402-4c6b-ac55-55ca5bb78ef0 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:060cb6a2-c0fd-4478-bfc9-30250db2e795 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82010f3a-60ff-4c87-95d7-65780fa06108 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:baef5fc1-bc5c-4c83-97ca-b58ee6c31e4d phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d108d19-8938-4c78-9113-25e396537015 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b6a5f22e-23a2-4d04-bf1b-691fbcbbebc0 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef59f9ff-b8b9-48f6-8c90-8acbb52c00fb phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a368dc6d-6e2f-41a4-8397-1de8810b8520 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a24069cd-6a0e-4772-b703-c8d88fd8eacf phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ebabed5b-58c1-4532-9aab-fa5f757b26dd phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63483ae6-a500-4e98-bfba-f5e02b226bd3 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fadd9ef-1ad3-4df4-a9b5-0c2b7f6b3600 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50c37074-d32c-4e40-b1a1-48ef0bb3197c phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f717020-7b2a-4e08-b890-7749c34d6ed9 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f6d0050-2785-4e65-8217-d29b335ccf72 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b0aaa8a-bf2a-4583-87fc-8f104e64d2d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:688f8757-bf11-45ff-a19b-e4d5733dac4b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b16e1eca-8fc0-4bff-bf7b-b811bb75d226 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1cc4a467-8fd0-4d58-ba24-8e4f291a9494 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4bf40c6b-f7d7-434b-9b4c-2853a781d09f phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9f628ecc-e06e-4027-aeff-70ee28b2c8d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1c88e94-b953-4f91-af6e-4cdad431afa9 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d956c2c5-201f-4640-a183-1f07d7b42af3 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e01800b7-6160-4d3b-b8f6-b3dc4ffa8d79 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0edccd6a-0dd6-4797-aa10-6943d5e8218a phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04dc864f-e251-4609-b1a3-20d2905e83ca phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b98290e0-90dc-4cd9-a6c9-312f86eda324 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:348dbff7-c67f-4def-8514-07f6a60747f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd08f83b-1faa-46cd-ba16-f10526e85519 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d4c105f-1d4d-4797-a7d7-708091d0e6bd phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5d985f80-723a-48a0-bef6-65e9a54054a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02aa5712-2654-45d9-96a3-a0e2e7dff842 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1469e06d-08d2-4e11-bf38-5094d098a639 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de069a34-aecc-4785-b872-a5b405d8a950 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86a672c6-b377-4227-88e8-9aa128de0597 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed87be4b-6da5-4624-87e5-9ac9046a41a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0b9ffc0-55ca-48eb-83d0-9f9620db0a82 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e01310a-6019-4f6b-b610-74e3f0e6a3ef phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:04d18a51-093e-4858-96f4-0bff6b3bf54d phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab410fa7-512f-4562-9408-2152a047b707 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bcb41d50-acbd-49bf-9e66-abfd916cbafa phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56e00226-0e71-4b50-9165-e4f5fd623d44 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4e42904-d071-482b-aeff-026410f95504 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3c97276-81dd-4b56-9216-3fc99ce97aef phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d754e237-83dc-4bde-8a21-f31bcbd030e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2bc0186a-e080-4004-a801-ae7de238f3c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9bc4b1d8-f4e5-4fc2-b0e4-7e7a99896a48 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b75ea45-fe8c-4d66-bf84-a8e24223f241 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9daa9f4-b944-462d-96c9-68d92a0fa67b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6be99941-d8e4-487a-a4ed-1f1dea0419ef phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4e77fe92-96e9-4727-8723-49474689a619 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:010ae485-5b62-40bc-8732-799be8084f0b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d4cdaf05-fbb6-4324-85a2-65c182742330 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a403222c-451c-40a1-b12e-a5b2bac23cdc phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9e674490-f43b-48e9-aecc-e57e6b669a75 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c743a207-6433-4866-8b2a-7665aca34ea3 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da04c2d0-f89d-4fad-8f44-2549b5bce1e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a8bf33c-8937-49a4-ad5f-66a026e72c63 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a893b3f1-d2c6-4ce4-af20-24cca102776b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c120e58-0746-4785-95cf-339c90025bb6 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2afde3a-9b2a-4a37-9d53-a0be685fd2b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ca6c909-6e76-43d1-9963-2035c3f8bcdc phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c6aef30-3f6d-4831-8bf3-323276ddb0df phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e882a041-80c1-4b5a-9808-3d0a0fdd192f phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78353bab-ae59-4c1d-9e4f-195c53c72f4d phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27d44c3e-3967-4311-91f1-3cef7086b1b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a147ddd-276f-4b3c-967d-59a003aff243 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e85f50ff-beec-4b16-8e5f-558449866b80 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50d28ef5-020e-4916-ba7e-54b6e0443256 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b6f6d65-bd17-4230-a0ae-26521de2fe20 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5032ab6-832a-456b-88e6-c19b7dce7530 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7a43aaf-21ec-4e6e-a623-c2aa3743f039 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:40a6506e-5c76-458d-b05e-9ac7a76750a0 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c713567d-0b07-446a-aa57-0fc6a2df6e2d phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05fb1783-28b9-4c02-a6de-128de3f7e520 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79fb0cdf-a42f-40fa-b701-21df6421221e phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d435a198-0827-4bba-9db1-5c9843e1a30e phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a85ac1bc-359f-4611-a1f1-5154ca1e1374 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43e6019b-ccf1-4386-a7de-461c2f730ac8 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d919e23c-c7d6-4708-a264-3665df436517 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbdd2b8e-b1bc-4251-961b-671774ee588c phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44e9955f-016c-4cb5-a13a-542cf085458f phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08caabef-eb85-4d5f-8938-7d7ed70f26b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1505a397-3c5d-4fd1-9d67-7b485c47dfbf phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a718aeef-4afd-4807-88d3-d86858ad8f56 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:56c4badb-067d-4c23-88d6-8f7fb0bcf377 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:14c96176-985b-40a2-9313-183e6b353eae phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fa3c93d-06eb-4c91-8132-9f3cb162de2a phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5bfe3f5b-4624-42c3-971c-1153611f2af2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c29550f-be3c-44c8-a0f4-da602014ed44 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4705497e-fde4-4d81-8fcc-5363de545c28 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:af2789da-a8d4-44b5-a297-5d2b03d6d021 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:625d2808-9146-4028-bc0b-429dd3526baa phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:16fe30b2-bac9-4871-bc52-212f8fce5745 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:472395a5-8bea-4f19-b062-c76140807362 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e83bfa6d-e7b8-4bc8-ab8c-56f73c08c6cb phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0f3c368-e14b-41e8-b12d-46e0a165fcbe phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31dd7146-c18f-4967-b523-a3e8732fe05a phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c669eb28-8f7a-4c44-a08e-1a875d50a0c4 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b621ff5c-b32a-46e1-b708-de52780253e2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9507cc87-f3b4-4c3e-a72a-3ecbc30b204e phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e6758e8a-5f39-43fa-9796-27afbb989990 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9318d4c4-6377-449d-9054-b8418b8d02a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b66b7b06-bd8e-4a97-8519-41b521ac2cdc phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9bc2c59-7ad3-441c-9281-83c4377f480f phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f895eea5-b4d0-4367-8fe2-0bdbca3015c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba1e3757-eabb-40cd-a0d4-7e94da718b80 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c498cbd1-c708-431c-8e88-16d1832ace7c phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80b7319c-0544-4ea1-b28f-fb179d78988b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dfc90a04-26c0-458a-89bb-cc9278c87d5e phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6f1ae06b-cf5a-488b-b240-3913b7b9225b phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dcbf44cb-a045-40e8-a2c2-7130f5c9a12c phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe364853-7b8b-4786-90de-a657b0f78efd phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d19e70a5-5940-4503-ba57-de825680a8c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d40a503f-ba46-4c28-ace2-15fd5f0f927f phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:38991538 uuid:779ad06b-e6f5-4c4e-90d9-66044ad5d4fa phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:257740a8-fd94-4004-960d-e3ab8981f1fc phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:30edf5fa-a04f-43b6-beb5-0e864f9b456d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:37ee1113-3559-426d-88ff-cb39095ffcea phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f466529c-0a05-4bdf-a8e8-dc2bc6e977f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:aef85196-768a-427f-ac29-e781e4c89cf4 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:375a572d-52b0-42a6-a8e1-2d4f06e0b6e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:138b6757-bcd6-4d2c-9f80-dbc92f25ef3b phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:14cd0942-5449-4748-9d5e-4b269bd821a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b4ff420-35b5-4f49-ac5e-45a7d4a792ae phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bab87677-8065-4a17-92ae-a8be1bdfb99e phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:79cbbe4c-a6f6-42fd-a8db-4d3adabbfdf6 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b81c3b1f-95dd-4a50-bb95-2c67330a9f3b phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c93cbe1-0809-4380-b85d-d1ac105fe4b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a024b396-7cee-44d9-84c2-047b7aa97a29 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d71bc305-a01f-4104-88db-b415371c71d0 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fa941a1-3907-428e-aa6a-78e1ab429700 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9d16abcc-9b09-4789-b98a-3e898081b054 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cc69d00-79d5-4a16-be26-8c13ffe55b11 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:846fe307-acea-4d78-bbce-48c41960ca41 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:beafafa1-a59e-4945-9803-769e110ac9c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ce6714e-4d45-440b-a370-92249a3694e9 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1dde81af-8619-4bf4-92a3-dae22f6ce330 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d506eb8-06b9-45c0-890b-987b01a7ac47 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6438537b-3257-47ef-a498-daa899f08a72 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f66f2025-928f-40e0-b9b8-daf8b57065a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3d5f91c-bcd1-4ebe-837e-517cf8d318b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4dfcfda8-87cb-46e0-93be-0a42df748881 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c893363-ec9c-499d-abec-f4f5c55ffea8 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a26f682-6d12-4b38-932f-31fc19e64c17 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5f7b8a00-4453-49ad-8cd6-66d549904a57 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34fcefb7-ec0d-4095-893b-01afb48ccc08 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d16d2df4-6eec-41ed-947b-cb4682f9807d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1338e542-039d-4892-bec9-4a9ef59afe53 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67cbbf1f-f27a-4bd4-87e1-3c7469ba385d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c2fbcde-3518-4e01-979a-2dc8dd4ceac7 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:043750a2-b097-4a28-bf3b-411ce278bb70 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0602bfae-8cad-4a42-aaad-96747759ac85 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5df26144-e17a-4e3a-b9f4-bf7a0dbfcf17 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca2dd807-f442-4728-995f-d2db3f3bbad5 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b48948a3-f45b-40c2-9e2f-2656fa89f528 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b8a020f-25b1-4bc6-9ece-13ae0e4792fa phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a076bb19-2285-4b1c-8e2c-d63e123e3e2d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cfc3785-2e3b-4ae4-9f51-28e04474a3c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d0bc5bf4-0cd5-47f2-91be-b237adf59e46 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c64d8525-d07b-4f8e-a98c-cb2781dba5fe phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:015ef7db-20a9-49c9-bdfa-544e9453ac47 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3604ea47-6890-44c2-8a71-87bd12886428 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84724d64-b94a-40a8-878f-e2f52a2ca1e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:54c7d74e-af7f-406d-b8a7-780d9d234e67 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb2ef68a-06dc-42e8-acb0-05ebfa3e28b3 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b3758a6-8cc7-4ca7-acb5-2a34dbe0a689 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fa52bb3-c779-4bc4-b57c-5ae19d1e0ff4 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2c8d326e-3bca-43d5-9db4-f34017ea0f85 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10cfabd8-079c-4d85-915f-390eec0faedf phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b8b3873-3479-4fd5-be79-564a78f806e4 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:66214078-43cf-48e5-ae8f-f16dac3952c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:daf21c3c-a555-4906-83f3-c80ba529488d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81c116af-f9f1-4c75-8d9a-4d46a81fd10b phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d477f0c-7216-432b-9fd3-b693b2e7c250 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cd24769a-37f1-40f0-9e6e-a30594efa761 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fac5d4d-ef19-431b-9176-c252c2d34a99 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8c67b10-a453-4ce7-9986-020bb4ed4918 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5558aa91-345e-4b62-a0f6-8de4001e38b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28e283a8-38a2-452c-8087-efeb700881a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cea120fd-04be-415f-bc41-c5a7fb757dd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58c18bc9-5f60-426f-b0df-3a313cdc9df2 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3cd5304-c95f-4c4f-8a1a-131b4538eb85 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef477811-6d28-48cc-9db5-50a36f031fce phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:975d6f8a-8ffa-43b4-8878-71d362c8f09b phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7b15f77a-52f2-44fd-961f-70124955ba48 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70c22936-3ac7-4f75-b9de-12d6d009035f phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3d5a20b7-baa8-4247-8f33-417ba4d860d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:522287e8-443e-455d-82e8-cb789180dbe7 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6b9f797-6b22-415c-bdb7-d297dc9d8016 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e4a10839-988d-435e-8212-13f7005c5ba5 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d93641ca-3f86-4b93-9976-dc195a82b716 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:807b006c-8e20-4da8-9bba-478cd2b5b4e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2e4bc00-87fb-4602-8063-b74e6c368c02 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbda8a60-93de-4d4a-8421-cc362939a522 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e82ff70-731a-45ac-bb91-068ccdbec6a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b86787c3-2ba2-4502-b81f-12eeba2ae668 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba319910-52ee-4e3e-82fb-3034d0066e73 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ed3a93d-03d4-4938-ab87-82427ad2f12f phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:437962af-38b5-4700-a418-7e523bf0c045 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb52b0fc-c948-4ec6-9dd0-a2d24fe1d318 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aff118e3-b5be-4f13-99c4-9deea2633c8b phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc008a5b-8d96-4ad3-9bbe-66096b42cb49 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc4924ad-d255-47cb-a1c5-4dc4d51b2465 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8ee0e37-b860-426f-b2b8-840ccf3cf4b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37799224-00ff-4cf1-b47c-9f10b60c7d8f phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8903a445-b0c7-4cc3-a246-9876e9f8a997 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3bfe40c-fa5a-472d-888c-b232573b0f91 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0727288-ecd3-4662-a0b2-125d03299253 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:803635a5-f613-4ef0-89cf-90d9067e227f phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:978c6adf-9375-40f3-8082-b3e00bb77e6c phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbcae864-1971-44ca-b8f3-2df65e269334 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4d5510d-f200-4896-9eb9-26bc0259ae5d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5e0dfd35-b9f0-4da8-b9ac-b5068c2772d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4aac2859-6025-4d89-9c0b-a13bf8c2a4fb phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4b43943-8f11-4cb8-96d9-4a8ded169031 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c168660a-0f1f-4205-9a96-7610c088e3ea phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e9ffbf10-81ff-4124-b7d2-0426ddbfecbe phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e12c8bce-7ee9-4907-af04-262006017023 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbc740bf-f9b1-4f06-ae21-b38658bd0ff8 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3be94b36-59eb-4e0f-b91f-e7f131f5037e phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8bcb954a-61ee-44ce-a2dc-26aa8870e3c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f795f130-37b2-48d4-a2b2-bb1aa132f413 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f60fbee2-40f2-4811-8d6f-fc9d546c295a phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:039d17f1-3100-4708-a670-57a5055bcc58 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5943832f-e393-4c49-88c5-74ecd5ddc3fd phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2cc8253b-797a-4ce4-abe7-64e41e68254d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd46a9ca-0951-4074-af2f-4f080bd38724 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5cfa4be9-db43-4f54-951c-6cc3b394fb07 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32a751d0-608e-4275-a90f-08afb7640393 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7eb20997-3e03-4739-9a0d-c183add57bd8 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19a4eda0-8301-491b-9222-f9256b6221a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:334e2d59-feb1-4449-8340-8d0d1439b1f7 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46d3349b-bb5d-4974-9a6c-5f703b3e8377 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cacfe342-9f19-4920-9995-ecde52d4a885 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0ac7dfb-54de-414e-93e1-c3bbda1d1cfa phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7a173a8d-ef84-4f5f-a776-d72962aebd5d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7572abd-09a8-4cea-b573-47c4bcfe9615 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67d9a1e5-0f5b-4a41-a09e-f7f90d043129 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea15a4b3-8205-4f92-ba9f-339546eab7cc phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f252134-4b11-49d8-97e4-27b6c29867de phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c7059faf-d4c5-4a06-a03c-e16f9805d98d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da72ab8d-0d9e-4062-ae68-d30210f69498 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67d5d1d0-d6df-4075-b9c3-7a2121cb3a14 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b9ee629-41c5-4309-9548-954aaf02aa70 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1499d93b-c2c1-454c-842e-346578bf9de6 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb5f3658-18cd-4f15-bc98-07bc523c626b phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab9f5a4a-b4b8-4f1c-9607-600553d8d47d phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:021ec5b3-6f2b-4b2f-9676-a9e763babb42 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2343c131-2e5b-4ede-9abd-5a7b3643a757 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:07b615e7-1cb1-4623-9a45-4289d1348f97 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8dd5342-5c72-4a5d-83e0-71cf972fa580 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71c51838-6df1-413e-a007-9f0bde16fd72 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bea72ad0-b0d0-49d6-a3fb-6b1a4de8c1de phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b82a66a-b311-4652-b102-fea101fcf596 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f8f33f1-b046-45f4-a848-90751b5072b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab758c39-2415-4745-88b7-51c60c718a30 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab4872e4-9136-4646-b780-036240acebdb phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:02c2001d-9472-4933-859f-ccd0caab58e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:1406aae6-cf3c-42cd-9c44-685e4051d34c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:38991538 uuid:f9858c4c-b5e5-447c-bfbc-e78ba1e79cd5 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:56e35367-6384-4809-964f-c7760aa4af8c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:49c8d4c2-007d-4c75-9e52-6e2f5018be59 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5318bd97-a536-4da9-80f2-ff0086fe7b6d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fcef51de-bc8e-4cd4-ad70-014d090f5202 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e8d20490-3c25-4de6-ac96-27ec222f31ce phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2eb4bec5-4eb9-45c7-87e6-90ec229a2f4d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e6f0395b-f8c3-4859-999e-05746302892d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6a7ae3ea-d3ff-4a53-b88b-b9105dd23586 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:92bf867b-869b-4c86-8417-d43333bdf4e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eb37b63d-4508-4410-87b3-052e389f15dd phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d64ef3c0-73a8-443b-b343-6f38662c96ca phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:be767464-9632-437f-b270-1629211f695c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:03363b9f-6ec1-4040-8804-53fe5aa08682 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b1df4656-2f16-4a4d-a8e0-289305e844e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e1555d2c-004d-45ab-95e0-0ad06f6ec17a phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5cf34789-3b99-46d4-9f5c-9937d031b537 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:85ac4fea-5001-46a9-a73c-f3cdcc6532a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9a0e5b40-a070-4c46-b924-1b57c508f5f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8fe896d6-32fc-473c-9650-b74298b240b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:775550e0-4fcd-4671-9b61-672fd51456dd phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec882cd9-b3ac-4ab5-b436-cc7cbda51342 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:81566e1c-ab0e-4148-9a1c-7b40d96fb8ff phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c4cff6d-c4dd-4b98-8178-f89468caa7e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c18b3196-3735-4252-8772-ef23a6671361 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59d5502e-c603-4659-bd03-5ad003c10559 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2f65a162-a987-41e7-833d-033c800309da phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4c5ca1b-2289-4f73-93b2-1fea37e0c6d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:baf18b52-bac6-4d9f-af84-4f5cc0590aa3 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8290551-dc7e-4032-9601-bcf9ec3dad21 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a2a0ae8-caf5-4f93-949e-e02dbac0cd62 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb3ca5fa-cac3-49c3-ba8f-24f9b70f45d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0539479f-cd83-4136-8c36-fb7fbc9f2a6c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2a435773-6fd0-4a22-9dc1-8088cb00deb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99a4f8d9-b098-4ae9-9d58-47fd28223086 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:83a54daf-561d-4a6f-ba00-d914c3ee6cdc phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a88ef98-30fa-42c8-875f-00aa72f423a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8139ef6b-9041-4b26-9321-d7f14549b790 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8441e9c2-04b7-48de-841d-cde8900f0ff8 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f96c6c3-be03-47c5-9c65-286397ed6998 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a96cf6bb-04d0-427c-9202-35e0bc867aa9 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f2ac1ee-4cc1-407a-85c8-72318a46402e phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb52923c-3a44-4584-ade1-f4cc6a315894 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:764e99f3-5826-4fae-af3a-5d9a8b45e86c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9785247b-2d9f-4e82-94a5-c0c7c9cf1d11 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:17f30be6-e1aa-45d8-a4b1-f693703dc85c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6c58b2d-66a8-4bae-a27d-f59e260bb486 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4df94d4-5db8-4ff2-9f90-8332f85057c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3349ef39-0206-425e-b8e0-29ab474f4e81 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:374736f7-eee1-4a62-81b6-9ec836971e46 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4363785c-0f46-4391-b65d-947a3457b95c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3a8564dd-0849-4e69-8967-3feadec1ae6e phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6f4e065-53b2-454f-bd70-9e2a64f4be44 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6eafb00c-3dc7-4122-a0fb-7249288381ea phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a83e401-7c04-409c-9b51-8c9f7ee61d0d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7573b1b4-3bf1-40f3-9d1f-b90a9d4c5236 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c18d16bc-42ca-4fdc-9c5d-783ce9275048 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c562a0c9-75a8-48eb-aa4e-476e3c5bd148 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f32102ee-45b4-4967-a776-da14089eeab4 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8cd769d-aafe-4751-8750-ce25d606340d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f2c1463e-2bfe-43ab-941a-e89364b727c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71492eaf-b862-4a67-8e3c-de8d52de46bb phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94528f31-57b2-4cc6-94e7-1d967068ff14 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a32366a0-7084-4f52-bf1d-9489fc881c3c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3716787e-9edd-405c-ae08-ac29a7302eb5 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c586e6c-2271-4ed7-a214-47dcb621d0ca phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ef11738-3da1-4701-9d8c-6c4206356581 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70016b55-85ef-4326-8560-1f642014803b phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:86f11701-cdf8-49dc-aaa4-12f2899d255b phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:adbedc2a-82bc-4649-9a35-78ed880fba4e phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbf491e4-5a2b-4e4b-817a-6117c59ab54b phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c098e176-af5c-44d4-9a6e-7662c65c8b75 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef2f7212-cf7a-48dc-8aa8-fe277f9a58bc phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10ca6e1f-24a3-4fff-aeb0-8ad5e4616c9f phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:80795760-fb72-4b55-9326-02447f7fa1d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d96b7d1d-f12e-4190-8b23-ee1c13ba7d79 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93954671-685a-46a0-abd3-92f582b9893f phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9c42181-7554-427c-a163-318a0d972b7c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:afd66573-5cd3-494f-a43b-d2480ce14567 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a635ecd7-c305-4ec0-ac8e-82e5866ade03 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3117c6b3-a0d7-45a1-99d9-a4206f35ca51 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94055f2a-7ce4-4214-9da9-dbe28f46ac67 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b9905afa-4d92-4bee-b8bf-054a3aa29f28 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d10e8e9-722e-47b7-969a-d7293e0c8fbe phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0f03401-ea42-487d-88ea-cf11bc750343 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dda5df94-678d-4a09-8a7c-7aa21267e856 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b0b81e2-b448-413d-848f-d65092a093e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:62cf72c6-2855-49d2-bd8f-be392c1c26be phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08d44454-d2f4-48ab-9eca-761bc4890251 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e71d9b8e-e394-4db6-9f9b-7ca9d0bf775d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4929fcb5-9997-4750-a245-c46ac3f91388 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71fa4029-421c-4708-9d36-4ac32e91206c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1ab35c1f-7d69-4d2a-b208-b5a58df43de8 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e1865be-eecb-47ad-858c-a30293c7fc6d phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:38c2cb5f-ea66-4510-8709-e29aa978ef7c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39e9d867-5939-4890-9819-8b7fec213a3b phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82e94622-fca1-40ba-9bf1-618098f6d45c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b9a4316-8691-4765-bbab-82aa25116760 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b8cb8933-eec9-405a-8436-33dd22cb04ea phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:768d774a-fc2f-4fc2-90ce-093832fc1235 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1af88956-8838-4f4a-bcce-02d2e50de178 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f66365f5-c6c3-4ef3-afe4-353d4db79207 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b7364476-63be-4c87-80e0-6fe82cc90fb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ecd0464-823d-4ba8-b0cb-36cafc2ce1e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d89bdae-6bdc-4564-a4c4-d7d6fe360e25 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4b5b9b1-862a-4f0d-b9e6-1fad73afa09b phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8fbd9b39-f42a-4180-af63-3bc04f607a31 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9480ac9e-e0a1-4e2b-afec-c005faf8b116 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8bbd28be-40fc-4802-abfe-8a7e90833c67 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2cc6743-510c-4ff3-8bf4-7ae67956324e phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e53be6d4-3306-4217-947e-9274335a34d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2855ed6-7757-425b-99b3-b8298b0f43b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:632051ad-87c5-4939-8c8f-053d71cd5fb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f005ea8-a403-4092-8414-616bfc93bae7 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ae28651-7f32-40c0-9e8a-a60fadd90277 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:376b77ee-fe50-4af0-a05a-53bac0b013c8 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94863e9e-b217-479d-9004-e45b96ca6b66 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c359d2d2-fc0b-4d67-bb94-687997511faf phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9068dc9c-ff82-4456-8661-6e8109ab95bc phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:49a094ef-a65d-4139-ad3f-921965b57eda phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b9dc568-b34a-4da4-a198-65d51eadf677 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c5cdb1c-b0e9-4d46-9b4c-1e1a704925e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19de61df-b13a-4d2d-b4ba-f7fa2f8561d4 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ff99b47-ec25-49eb-8465-5f79b0e4daaa phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c3c66df-bf5c-4b58-b118-8cccc30ee27b phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c57dd108-ef0c-4c3d-b546-cbb0e3c802fe phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1f035b5-0d66-43df-a1c0-1187b8ba5964 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:24bd5d78-4036-40e9-a6e6-3b1d4ed3570c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cdaa96c3-2521-427b-9412-c9863e60a2af phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15c3c04c-ee97-4a1d-b6d4-f86ef9a26efe phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:913db246-a1ea-43cd-81cf-cb7462dc58f2 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d5c932d3-03ef-4083-a9c7-e6c987e6eb5c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2aa4b557-6c63-40b6-a3a6-5a11b08dd410 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8bfadbb2-1178-4b91-9910-b439dff54d35 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a70453c8-c42a-4346-b061-7cf472daca20 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c82817f3-2361-4b27-a6df-116a0e5497c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2503e9b3-52f5-4600-b1cd-03003addb7d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1e67d8c-66d8-4a03-9913-362249cab9a6 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1bda318e-0a41-4b23-85df-27d5bd490d43 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a92bb29d-bc6a-42be-b4e8-c05cd69f2e07 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cce4117d-ecde-4cd7-ab99-01374bac8009 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:36580bb2-cb2a-44b5-b60e-efe12112d1ab phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3c0dffef-78d6-4692-a7e8-aa2a1e4a627c phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3ecb76de-3b02-4fdf-8a43-1e90b2388ab5 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7281ec93-86bf-4578-ac25-2f17ae829a29 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e5f3bed-0d52-448a-abcc-4e5897fb8608 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:db6e0c21-a8c7-4a3f-adec-8f96c58bb477 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7e3287d7-fd95-40ed-a3ec-5064bd7c11c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:28b5cbbc-26a9-4058-8af3-8dc54f5caf17 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:7d4da1e9-d5ab-435d-95a8-5a2dc0f8df12 phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:6f1cfd4d-6ec7-423c-b556-08eb51d1117d phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:38991538 uuid:cc374f23-7bd4-48b1-a706-a4e02b3eb803 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8054dbb5-ad3c-4a25-8b90-f360bfc50dad phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8fc4369e-de9d-447e-81a7-f8f8f4c8292f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1d44f8e6-c4cd-4c98-a2b4-2cd7d6c87735 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6f03e3b3-9767-4ad9-a91a-b30a2e6e8f61 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:eb2f305f-aee1-4b95-bbcb-06003d6a804e phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d397bed8-91be-4edf-8ff2-71df2407e4a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8d1f6fd2-cb86-4ee2-b327-0c2a27dd637f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:35a0f029-9464-4f84-b44a-2a6ebf085516 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3d9ebffb-17f1-4047-ba7e-7eb618e93ac5 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a1a09ca3-8db6-4e98-8a33-0c35cd1779f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:18ab15fa-3233-47e3-aebb-8aefef796c52 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b21df1d5-9acd-4db6-af8b-1a2eb2d7f366 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a373300c-1cbc-4a52-9698-897f2b02eefc phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44304cc8-5e75-400a-b4f0-8ab280272e19 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6084756-4e67-4a40-95b4-ee95fc9ae411 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8e42a964-e6ea-4212-bbb4-868394ee772a phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf4e1f29-9102-49f2-b363-2c421383d47a phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a1250089-c479-4628-b2b6-2f3b638a22a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3349180-0add-4b2f-96b8-db29c6a2d6c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:85f9d473-a698-4692-8940-82eeae7bd542 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3e87d0df-526d-4a39-bf5f-26371e1ff78d phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:deefb991-6b1e-454d-aab4-417352fb77d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de12425d-38b3-405f-a829-016b6c7f16b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f774660-ee9e-4c19-8628-d940ab7f1873 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f8b2c68-8a1b-4a79-bde6-5976a0340488 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb2e0691-99c7-4821-b04d-94f2e83870c7 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:78137a63-8327-476d-b3a0-e35560340891 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f6d3533-2275-4520-bbad-6259f1ed3ad7 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:57ea95e6-0b42-48d3-b649-98eebce12dd9 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e560969d-1b9e-4122-b80c-d075cbc30c1d phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67de840c-8ae0-44fd-a202-f1017a35e331 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a08a5298-f69c-4774-95a1-c525c5ac2adb phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:690a2f96-f746-40bc-9e3c-bf2d7a0cc825 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:992e596c-6213-4964-906e-59682824a366 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6a7cd1fe-6394-47df-916a-4b194ec86bcd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12ce08e0-c6e2-4ce0-bb31-49b44ec5bad5 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0ce03e1-d5c3-4ca0-9181-7e24428db60d phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c5d6f4dd-7563-40fb-9808-4102d43b5b2e phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb6c8e10-ba5e-45d2-83b3-0d0a5f8238b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6c099571-9aba-4b43-a111-1f25e6fa6174 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cfb76fea-ba18-4c63-b73a-2e7ab8d23f92 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:034b0bc3-5690-4f6f-95a8-8fd51ded8fdd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ba623570-9083-426d-89ef-cc2659b80fdd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a06c737-a4c1-42a0-9484-06c939c08c88 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:73a07368-c1a4-4065-aea6-5d62e86e5db0 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cf95043-4fd2-451e-929c-33a297e87023 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15a8d229-67d7-40de-96c8-bf48c9e25086 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b8677f1-d771-476a-a55d-26de4e12d9b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f546e71b-eba2-4ab6-b1be-1b7cecfa12c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97423090-c236-48f5-921b-d03ba55a63a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06c9a9d7-bb7c-45c8-880a-e9c691f96006 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32befc2b-88e7-447b-b513-b99415fb4a0d phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43dfceb4-faa1-4120-a64f-915daebbad08 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15e640a4-1d4f-4392-b06d-cac64d7d86da phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1c81507-3f4c-4ee3-af83-388d3263ab35 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:479d386b-9a9c-4475-8d3e-a6c32fc3dc76 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b3052c9-d6eb-4146-897c-c0cb72083c46 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8d44e169-4c5c-4d97-9305-541826447c5e phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1a7a2aa8-3b3a-4e77-9e9d-dcadf80b15ef phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9fc54174-0331-4cb3-9c95-b77442b42edd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6bd02d17-8f84-49d3-b884-f1276ac18121 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef39a68c-a8ab-40bb-9d32-0eb4ffef77f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5966ed51-c734-4c3d-a5b3-1ab252c19387 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4873ddd4-9380-4137-b12e-bf7941886eb9 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7af42baa-af4b-47b0-9c53-94085b5d3623 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e7a53449-36a4-420d-90af-680046bbabe6 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec594422-f11d-4829-9e16-c29a50f32167 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c197d021-5904-4246-9b6a-d7bc1b372d17 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a4a15f99-625e-4ef3-9605-2bc7e9f26989 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acc6f31c-6416-412c-a638-fc4d89957a72 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d127b0a9-d363-47ab-a2b3-3a82ef39bf83 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad6b73e9-04d8-4bfb-8186-e7cc49968bc5 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d826891-a49c-4dea-9a43-fe3d32f97343 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f741d4f1-ef9b-4cf1-b539-5c2676bc597f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:449578f9-d18d-4711-b841-bdaccb422d8a phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f28f6945-e869-4971-be6f-d1dfb106ba82 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0c052e7c-b4c8-4e55-aafc-e77d06d737b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3af4aa0-8093-4975-96e8-bb7144288c04 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2cd4be0f-6a8d-45b3-b674-2d4e26e19a54 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d025e6cf-5d2d-4da8-9e59-b5f89ba210a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e64ccdc5-9114-449f-aa1c-78dc81c16dcd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5a1ccec-b809-4a06-88f9-62e0b1de7d25 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fdcc8a51-c9ed-4083-8b43-59700222aa17 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd277324-b635-466e-af56-924592e545bc phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9b81d4a8-1ecf-46c0-86c7-584464f201bc phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35a083e9-faa5-495a-9c52-2b3173630627 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05404463-9fec-439e-b3e4-461a7b2f55de phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:baab4f02-2445-466d-a26b-cab148030ffc phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9762c428-d5fe-4c55-99d5-d82396013000 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b2e94d3-ef4a-4ee1-9882-63a502df539d phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e780d884-9fec-4ff4-82cd-8da39b987094 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0e0f756-019b-42a4-9240-4773ee60a2b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:22e86907-052c-435d-ab1d-e7e365e5cc40 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad7c26d2-8cfa-4d44-959a-7e245e86a130 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4ddb2134-ab15-4af0-89e4-64f5b66665cd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:573dcadc-150f-4b30-ad2c-02cb81277bba phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2818e06b-803a-45d4-ad7d-303ec44fd7aa phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f37ee36b-698f-4b6f-b5d3-ffea7c076efa phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d6f8f4b-cfd2-4fee-b6aa-723f01927adf phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1fc370fe-f036-4d54-b16f-1eebdda864e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:71a2d941-8e25-486a-9528-604563f80e4f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c0cb50f2-47fd-4a38-a088-b3fe07600ed3 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1240d072-23aa-4bf3-9f85-99e839138553 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5401bfdf-4e6a-46ff-8a1f-3dcb1b71dd9a phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30cd5870-6e26-43ec-8677-f52a1196a177 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aec76505-d476-4e66-8b43-546941fe891f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43893ea6-2fcd-4568-a709-598caa5d6399 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:68b99c49-dcde-4efa-a48e-2875ea397982 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b4e1659-fa8a-4676-9649-fd3b979e7829 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d730f9c1-57a7-4b72-b44a-13ad8ad0a1b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:007a898d-52dd-479d-8560-c162c36bce27 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:65037cad-41b6-44e5-bbf5-685cde28aa36 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8430593-c4ba-4b46-b18b-f93d341222f8 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:167a5117-f1f7-47e1-b91c-745f96ff86b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ff16e16-95a7-4156-a56b-8b6a2a11ece7 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be1c832f-633d-4deb-9fbd-641efe783b32 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:111b3b42-bad9-46a9-a208-700e291e6a5f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e3b25da-5371-4a1a-9424-8d7deb883500 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:927c212e-301c-4b52-acb8-502a1ebc49cd phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ec5d3b76-a34c-4aaf-b78c-8b831e7f4645 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a24d4b97-c052-4fa2-a950-d82fcb91da57 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b019da7-2876-4fc0-9fd0-dbc5f6cb0d05 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:285f1928-83f1-4916-a5e7-91bcf06d479e phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:34c683bd-9eac-49ca-aacb-00a4e87df5b9 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3464d58d-d32e-4664-9a15-f27984b4079b phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4e64953-b988-4d68-b64d-5f4971bb873f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:51652d2f-c341-44b6-8b48-aeda993366a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f89d0911-4a50-418f-a577-03a17383c13e phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f6dd4b85-6c42-4417-a921-29ec0e9b8e3c phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d6fe718-3d6a-4a91-8a8e-e0f1a6bf60af phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6e342583-6029-4c12-8fa6-d27c6b8ccb0f phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab23d5f7-0737-41ae-bb54-c3315346a7a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bc353064-1c86-4abd-8a70-13c93e943aad phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0152640f-f29e-4c14-b968-4d4942e86415 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3928a207-c2de-4de2-87c3-9f63ac7a48cc phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:457c66b3-436b-4041-838c-4f19758d78ea phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:59ac75f7-5d9c-42f3-bb8c-8bf2b3b9ce06 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:ecf89cab-7683-47ba-9521-18792b7f1e95 phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:88114cf1-b7d1-497d-a282-f56e381bd24e phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:38859706 uuid:f779e5d4-e216-43bf-bff1-2d18f19330a4 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:d3b3f648-a7ed-4891-a559-5e6b233ba46f phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:4220e766-d4a3-4465-bc5f-19a84d4a1e8e phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:9b2d1efd-fa59-4fe7-9b9f-1570dfdfa4b6 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002871 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:38859706 uuid:86d6c0c9-ee62-4b36-bf74-b7b9440b22d7 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:5306060e-5577-4fc1-a383-641a8e5ca665 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:b4a44b17-8c4a-463a-b5d1-3d14606bf52e phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:598f8d17-7054-42cd-9e44-7f936baafe11 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:f6fa6a4a-a7ee-4749-a519-007824381a39 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:d92932ac-bec8-4d5c-8855-e52a3cf61d45 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:e3d159ed-209e-4b39-825a-fcc4de442c42 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:44e41861-9f11-4cd6-a0eb-b048556e4687 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:f7a8b4af-5f94-43d2-8afb-43a87dc74170 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:ba792f0a-49a3-4ac2-b64d-f7d4d85046a3 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:8610030c-79f0-496a-bcb1-3ac6deeff654 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:eb36f1f2-6eb6-4677-8ba1-675ba656be61 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:f2da3888-843f-4d38-b3a8-9319887ca68e phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:4eff04f8-cfb5-43c8-b8a5-8e1bc3e51e83 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:85c8160b-1256-4da6-88a3-3903d1a69843 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:341cf921-8505-40e0-81ed-e527ec26496d phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:debe27de-41ac-466d-902c-f111b2a44849 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:62721282-ea18-4003-a00b-91fb576b004d phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:109696b0-9051-43af-b9fb-bdf94526252f phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:070fc841-fdc6-42ec-94cb-a409aad1a485 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38859706 uuid:7c72f06a-179f-4bed-b2d8-6d252eb7393e phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:ec314065-9428-41ef-8aab-849e13d07c02 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:d3470aa3-0822-4d90-84b8-a59cf6d67849 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:723fb0d9-b658-4afd-8e3e-5c09461ed3b5 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:bb5d25d5-ed55-4109-8e8f-6e60c4e1d249 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:ca4d2f4c-b67b-4201-b365-2f230d3f963b phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:b4e7685d-ac1f-4d69-88bb-c911a626d194 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:58c1b518-f655-44fc-b4ed-a439fb9c9e93 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:cb74c95f-208f-4375-ab56-0db519745570 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:fd9d5b56-15c4-48d5-b3e3-395236fba4a0 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:bd2970d4-033e-44a8-b3cd-2b0bf8c4877c phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:a93f0049-babb-447e-85d3-5fa93c93f5dc phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:4493b5b7-e2d4-414e-aab1-4e91ceec46e0 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:3e53871e-0017-4b7e-8256-b837b078be48 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:5dccb7e4-1469-45cf-865b-f12ada3b9667 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:ca9aedb0-ab3b-4cb5-933c-b3da471cbc67 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:805ccf9c-1169-4d99-8886-42afc508c26b phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:9c1350bb-051d-4bba-b7a4-4b86f720c687 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:8c2b446e-6c44-4948-9ed8-30bc2fc1e9f7 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:18bd0c9a-6213-4636-b281-85eab2ef83e1 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:c0c1171d-7839-4310-b5b3-40f3b4106e67 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:a52f0fc1-10ff-4281-ac3f-76801ae13fd3 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:80c5ffb1-593d-41ca-a771-34f39c4a1ab7 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:f98556f0-bf62-4fa4-af82-84f05016a77c phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:d00ec5e8-b5c1-41aa-8552-76c2819476c4 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:6794fd41-595f-48e0-bf87-7262c75d64b1 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:154a6750-a2ad-4c41-a84a-b1e45b5870aa phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:0f0ccc41-8403-4f9b-a2d9-a2471abdd47a phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:fe7321d6-b414-411c-bf50-304da81c2f07 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:858e1b17-1afd-4909-b222-a59bcb906cca phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:bb6a3acf-8998-4f59-866e-322acb8ca5e6 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38859706 uuid:658e637e-a2b5-420e-b749-1947db752833 phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38859706 uuid:6b230e10-147d-4d7c-b4cf-f5fe161575fa phenopacket.store:RNU4-2.PMID_38859706_individual biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38859706 uuid:a17a49e7-e8cd-4de6-b1f1-f99b53a947ad phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:38991538 uuid:65fd9715-133a-4da0-87c0-816d24b426d1 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:99ba69e3-3807-4ae4-9872-a68096bf2f93 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6a892463-7372-49c2-9391-8edb2809bf8f phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:851896b8-f3d9-4449-a0e9-a6e06207f139 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:479c108c-633c-46d1-a73b-ce41d5bdcaa7 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:58183ba4-39ee-4d5e-b4a2-30306748d71a phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6e9978c1-fe99-4b60-b922-c53293396084 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:47f1da38-9869-4267-bf72-6cf3ae692632 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:04935805-e18a-4de6-88f0-05a17fe7bd70 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ef348329-b76e-4bde-894e-1afa3bd5f3a9 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1a2bbc8d-7b08-469f-aedb-29c9e98e7ebf phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:70f899ee-fb63-4f8b-a1ac-fd4125eb1ebd phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:29bf4eb7-2509-45c3-9377-9ce723e1d271 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9735ebbf-b77b-46a2-83b8-0984fdf214f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5d43143f-d8ea-476b-9f26-3b3a94b2e0f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a45986af-eb18-4c59-aaca-ec2ef220b8be phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e8fd2188-fb64-4cf5-ac03-3b7b14515040 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:e7d7d4ec-c774-4681-b7ca-ea9acf652b9c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bed7ae90-1076-40b9-8945-482354bf5ce9 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:53c8c132-b644-4132-9ea1-a1e4d57cbcb8 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f3e39b29-7fd5-4114-b313-0c4ad2045c6b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:07081bdd-1f8f-42f3-a4d9-db706431de72 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:56a0a8ab-7430-46bc-81fa-0f2a1de666a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:00d73800-b5c5-4fde-9620-67c3254d7d87 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c8b7c6b1-4ecc-480f-9121-e0b13f13ff30 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed0df7a1-8e40-4ed1-bb6b-1d107627c5d7 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fb05c0a-3d1c-4779-83da-65e474a3635f phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:868fc72b-c1cd-4210-88de-ef8371df88e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3811ce41-23ce-4139-a44f-7d959ad83cf1 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:27fa2969-eea7-4939-bb0b-b6ec25e772b2 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6194e182-89d6-4f71-b0af-d187206c5bb7 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2ceed7a-bdfd-4669-af56-212114915a86 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a8187c0-2641-4a42-8590-c0c1ec70a64a phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6d889d0d-ae87-46bf-8275-51ada48ab372 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9a155e54-bd5a-4811-93c0-c6a9c3a1fa4c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a674d268-b7d0-4aae-9bd4-b095076348a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3d08103-639a-40de-a6f3-df033e509f51 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8188ee3b-62e3-4766-9c01-1c9d5fd37359 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e4d1301-288a-4090-b11f-d0e3711bd13c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e452b30c-30fb-4486-9a93-6a3b48be3aef phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01d6edf1-3cbc-415f-9fa9-e1fada587efb phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f9ffc6a-d727-4640-a765-cc570cb75dc5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3b969f6-f8e0-4984-bc10-192b4804c9b4 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a0696a8c-b674-421d-8089-c387df857326 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf444778-9312-4844-a607-687699f6b601 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30069676-0f86-4e3f-b02d-938401439179 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e908299b-31f5-4a95-8cd6-265ce4ed209b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e09abbf2-36c0-4bbc-a987-e13504573d72 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dcac5385-052b-43a9-a65f-e3f1331e1af5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee958702-859a-41bc-9ff7-9d31a0dc310c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8ce38f55-d4c5-4ac3-b317-2aec02fcf92d phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5b63347b-e03d-4f7b-8337-c534703daed0 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f4b85d8e-ea27-473e-a6f2-4ac4d46bb104 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:da967f07-d713-4d4b-931a-d68b94622180 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad5a44a4-cd95-4607-8d22-9735d0dbe1c9 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2928346c-6b87-4b3c-9b75-06a5e812e078 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd872157-7555-420b-86f3-ec7052839e8f phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92c0b153-3076-48de-b74f-03c52070e2ca phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52178c9a-ee3f-47f0-b0b1-87438e3129cb phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0bc39ad-a978-47ed-93a3-79bef8ee53b8 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:774a14d0-a249-4930-ad30-7e242c45469f phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e00f07b7-c646-4a57-b098-97d0a3526900 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:613871ee-f2f5-4ec5-854d-10cdb482ab8f phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5dadc8c6-f718-42e1-9ccd-1628dfa0d453 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:84b7fbc9-2887-4712-9f7b-b1a9dc4706c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c2c7776a-1507-4396-ad3b-8d199a11a638 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a95a554e-2634-4e18-8e9e-a2176adafaee phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c9aeaf17-605a-4b6b-956e-a742333cb0bb phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ef475b93-c88b-40da-88c1-b3a6372ecf1f phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1aabfe2a-033c-4949-bb1b-71b509b19113 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a000274b-9212-4cd6-807c-a6df38501673 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0463fe8-bd68-4093-8c6c-7e249ce89370 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d939b394-1330-4d58-9783-2e5884972e64 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8515d05-45c7-44bc-81f0-9689b730a1a2 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d1b8023a-e303-4d32-b26c-3bcdbc5a207d phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a3301e80-cc7e-4001-ab80-75987ffd8639 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad3b17d3-b872-43d1-9653-f1329d785a4b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ed457aa-9f47-4ae3-a085-e4f8dd996b2b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:944dc78a-26ad-4498-91dd-6bf7df204ba6 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bfb6782d-1371-41ad-9656-d0f4f2d76aac phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d3055af3-ff5d-487e-896f-80efec36d682 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be0a89d4-cb9c-4f32-9843-0f43ee37ca47 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d91a8eb-3a7f-40f6-847e-dfd56b33e487 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aa38112c-58bf-45ab-bc03-f8e95546a135 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50522b4b-ab44-4723-b1ef-e51f61d684c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b20ba3c8-f118-443b-aa78-f67d78fc8406 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c9f559dc-d249-4629-8afe-119ca390d2c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99d96c3c-a7f1-47b5-96ff-99dfc75b3216 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c722f4e9-ffc1-4e72-9b99-9d27352bde2c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23ae886c-f030-4dec-b02d-89e8176b6079 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63924e3c-706d-40df-9f6b-5e91cefa3f50 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7c58c535-5989-4704-81f4-0ee26e6995ba phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50bf92b6-d9ae-42be-88e0-204c535023e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9b7a11e-0ebe-4ff3-b7f5-b6f793c2cab1 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fbe2405d-5594-4208-a3a8-b583ed248691 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:acac090e-21f6-4ec8-af1a-44ab2fb087db phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a9b9d536-e141-420a-8e79-fa402bac43b6 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5380411e-bb6e-4e50-b083-f0d800368415 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e5175937-7a6d-4aa5-a7a1-8a02f60a3b7d phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:29776ae8-7f03-445e-b20c-7343d862ac4b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ee36f441-facf-43a1-9b70-9b365213bb19 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31702953-790e-422f-beee-88d812d8f5dd phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ed994e56-24f7-459a-93a8-3de03342e717 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d9d32f4-5221-442d-9f8d-864ca1b6672c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bb810551-9b7e-40c7-aa1a-56f57d0fd6b5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e3ffa219-44b0-4218-a259-92c64e8ee756 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:33aa9015-ba90-438a-aafc-807e3f28e664 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1426df13-a911-4322-866b-57408c5dd812 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cb8ab51d-e534-44e4-93e7-ba6eeb757b61 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64a66d0f-e965-4540-9b9e-7166831dc0e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08153978-e58b-49da-93da-db5ac0be17e3 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:587186e0-854e-4e62-80f1-b6e3ff5bf2dc phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0c632d5-3de5-452b-bf7e-50785c2a8dfb phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bea99875-f18f-4308-a6ca-2169ffb74691 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:90eb2c09-624f-4ac1-b1a8-c4a6170dc001 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:aab82ebb-e564-4d3a-950b-6defb9b09e67 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:10360b7e-3dc0-4bb4-b8fe-c17a8fef639b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42bd3564-c316-4609-b1d3-36818e0f3916 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:721ff342-b61f-4e19-bf87-3c5e3a47d29c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8cee2284-b0de-44d7-b617-de452e01bdaa phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3cfcb0a5-cecc-4fad-b455-49e782ddcaad phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:517718e7-de6e-4af9-9154-c0262dfb7218 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1bbbc87-070f-4a13-87e1-13a6f3d608ea phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:93b34dff-6c18-4099-9288-ab9157f7fe10 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a74bf159-2369-4575-a7f8-c9df27511633 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d9cd9ab-3cf9-4fb5-93f9-01bbaa446c54 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:96982c51-bf6b-461b-bbb1-10383e3f989c phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99c79121-fa64-4cbc-b2a1-85876767c076 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94e534d2-9904-484f-9cdf-70eb2f97e077 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:37840b15-ee4f-410d-bda0-6a777a63d5aa phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:522de504-37bd-4efe-be65-54bfcbce2040 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea905213-20c6-411b-9b39-861a78ab05cd phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f5142524-0d3b-40e2-8cf0-98fbdfd95160 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0715ac4d-6f3f-474b-8843-69fcf5ba5999 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ceddb651-28d4-43ee-b40e-b75107bc74a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d7201f5d-cc6a-4de6-a6ba-30375e96cf36 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2ca667c3-8205-47c8-be39-74a8177b15f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fe7db714-36be-4335-8bcc-b70a4707fedb phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:12f6c790-d8cd-44d9-828d-01834b586292 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ddba9b37-f7dd-4aaf-aae8-62d309011029 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d052c365-5ff5-4bf6-8cc1-92970ce62b3d phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1453e27a-3031-481e-bd0c-7f8c3ca8318b phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b510a30-2ce2-40f3-b5c6-0adcb9c8ae27 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca8dceff-be55-4a66-bb37-2bd2d905e855 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b603248b-16b2-424c-a550-4f5a09900343 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5453df75-e4b7-49cf-98dc-28ad35bf1953 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:b99ab959-7735-4274-88fd-c3272d9f5899 phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:9054a8a6-1afb-431c-8d59-0fb92d41150b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d15f9943-f549-4546-aaec-f4bfedcc384b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:1f51d4f4-16cb-4be8-b35a-e1dc5ddcfb1c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f5dd9033-f7fe-48a6-8b70-15148cfc4b29 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0db41a8d-48b0-42ee-a2a6-cce5fae0978b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:08521b12-1682-43c8-b32a-b2b76452c76b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4a738674-2338-487d-9c31-46a99e768476 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ccbcf3d4-2bd5-4789-a3ef-da06d476d0ee phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7377daad-28d7-44f3-b470-ed69ca6f9e03 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d5e4590d-61f0-499d-9a95-a36212b793b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fbe25a31-9a22-4be3-b806-0df37954c52a phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c5d32b91-3b10-49d6-bd08-801f266f80a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d886cbb3-0c10-4190-9258-945a105626f5 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0015ef5b-0f26-4d1b-8fe8-3ad6c95a6e45 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:fb71ed3b-0278-4819-8824-a59c96a58b5a phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f14c85f8-a82d-408c-96fc-f1cfe66458ab phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c11b9b5e-e3d1-4a4b-8d25-40db937daa17 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:82fa6e11-94fc-4fc0-8439-3fccd299c2c3 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:06697f1e-23e0-47e2-973d-347884ceb8e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:6a2ddb0d-4f6c-46ea-be7b-038932b6af49 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:85962510-1a32-4b09-a32e-f9e689f787e8 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5d79b631-c730-44c8-8e26-8198493c8015 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:ac79ce98-ab34-4229-9e66-f43446092c48 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:b6c2a38f-e1fa-4514-b55b-b99144ccb6e7 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bd701176-f80e-4458-aba1-ddc32cb294af phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:74f99485-d3b4-4679-95d3-364df2637cc0 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f9cbb3e1-dfbe-4ac6-8630-c8b1c1c82284 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:a1cdf54e-0bc4-468e-aeed-6a916622311c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:59af9a93-ecb4-48fe-a5c7-ae41584e71cb phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:147bc454-1a61-4030-98ed-0b8aa7361786 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:4e9f24a7-1245-428b-8e7e-8c93bdec8aed phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2bb399ae-dbef-4f03-b82f-ce4c1b9b2661 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8ee40732-bcf5-473b-beed-b18b87de2ba0 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:bec8a666-2caf-4d4d-99b2-e953684bef9e phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:5b26476f-36b4-4b09-9e84-a2dd20f129ea phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:42ae898f-7522-4768-a019-97e6553bc2c2 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:da19757f-b08a-4485-9603-bd8304837ab5 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:f65aeb33-6c95-48f8-a8d9-44c508dbe4ae phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:61c98bbe-a345-4e8b-988a-b8141058e91c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:55c700f5-abcd-4e52-8913-3a2882e90646 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:02e780de-575a-465e-98df-89642398fcfb phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:907fe5f6-aed1-4008-81e9-3c4241b8520d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7d821fa7-d954-4c53-b20d-3a3b3328cd8b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f11d095-0e43-436b-bc3c-3bde493f38a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4da32e99-3c97-4125-b371-a555b9746ef8 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:74e512f5-def7-48ce-95fb-2e844d1bc392 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4cbb4665-1e55-417d-84bc-7091d3208040 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1d174f3d-4ed3-4b1c-8f13-8956497ec569 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:840f8050-391d-4bc4-a517-dfe71a21286b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:edd50258-be74-4bf7-a9e2-af2bd6ac9ca8 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6943a3d7-3dbe-4fbe-a738-e06ce54c2a69 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:223520a2-561a-4a46-8833-f20cf22ae2c6 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:189fd397-f523-453f-939c-5fb9c7523286 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0a22413d-9686-4cfb-956e-caf66fc4aff2 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f6a3ef5-3e03-404b-aaf3-c51cc384402e phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:39bf5e01-bedc-4a0d-bbb2-b7097d5e79a5 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:561cada2-8c83-4519-bd0f-f725c80f3f01 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9cd02866-8234-4303-aa98-b2006bb17297 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e2be4598-5f7b-4d2f-bcac-91242ee8b906 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:366c7c63-6169-45ad-af75-64d65943961c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cc19a231-19fb-4ccd-8214-a7f5131d3d9f phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:efd5ae22-e3a6-4496-a12c-d58e658824db phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4a37af93-17a5-40c8-b9bd-65a4891a82f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a5097709-c675-41b8-8578-c83e2e78cd5b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c6acb4b8-fa80-4947-8b6e-f94100381be1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:711a3b68-3a4c-432b-a5f6-63bc902f3a34 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f47199c-de6c-488b-82d7-4f316053e199 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f8c0d2d0-f1a8-4a7b-82fe-6f1066773511 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:01c9a565-0430-4682-96f2-da886e3b76dd phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67ac283d-5d7a-43ba-b3e5-936c04d31ac0 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f899e8e-b056-432d-b518-3b26e73cbb65 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6ac604d7-24d7-4445-ba96-964534503421 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46a7e39b-5447-43c9-99a3-d64cf6299777 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:683ea397-18bd-4175-8c0d-26616a028e7c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:792ee988-b39b-4646-bc95-cd53166a5811 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b31e34e0-ebdc-4af2-99dd-9243e06420a3 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0f08e1e5-d877-48db-baa8-75b738942f89 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8c85feab-8bc4-45da-b4b1-9a1c22befdc9 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4d116807-04c0-4af7-8e92-0a7a3029e718 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dec4052b-3f1b-4fe4-a0bc-17a04745906b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ce88da12-dca5-49f4-a6c4-9e84498d816d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0e5f6b1c-1adf-4a4c-bd92-1b34049df876 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2fd6062c-72ff-46c3-beb7-ed95a8a15ff7 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c58a125b-836d-4e33-be6b-a3a88e3e9cf5 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8df41c59-ad83-4a1e-b443-7a36a5a29f25 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b3498780-3d8c-41b4-a798-b6a2ddd89f4e phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b779bd65-2d2a-447b-b332-18d07ed4fb9d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:97ee7016-a6b1-4e1e-a2b8-661e4880221b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:00b67455-8fb1-40d9-b48b-b9fd21689e86 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c959035f-fe47-42fe-bcd1-3975222ac1cb phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6ac12a9-034e-4cf3-8cfd-3405735934f9 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ccc2504b-82f1-49d9-b1d9-705e6389fb38 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:596ab8c7-96f6-40bf-93ba-9c70a4f93503 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:55c2250e-620b-453a-b0a7-85b9017e47a4 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca4d55d3-bbe3-4948-b8de-b0a62151c294 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5adca3e2-1352-4b7c-9735-5dee6b5fe3aa phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:19246277-73f1-41fa-bc2f-15911916877b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:6bbc5472-3fb0-42d3-98d9-7a81e8fc2540 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44497acb-7dce-42bd-9e59-c341aded16ae phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:584393cb-01fd-4e06-bafa-fa797fea6809 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76a8ea48-0e1a-4da4-94de-ffd1e5a490b0 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ab78811d-8c0b-41ca-9308-70fa157fc810 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:641b08b7-0f5e-41c8-9e12-41d5b6402d4c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:61e6f72b-57fb-48b7-abbc-2c0b9d3faf2d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e17c6e03-31b3-470f-a3be-76dd138b2971 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15c063f8-5f95-4653-be78-9d53741ae4c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dc6a5c5a-0fc3-4d42-aa1e-5bef9be142bb phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbede0f2-d9a6-4eb7-baa8-eebeeb62994e phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de9ebe9a-a896-48d9-b37b-4d81977eae1d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:9ba9ef79-d905-4844-90ce-0a8eefd45993 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b11bda1d-e175-45c1-bcf2-446810c648ad phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99d73d8f-4647-43c0-baa6-baa88b72403d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:de4f1b04-e3c5-4a28-b719-a0da8c60c716 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3383abb4-83a8-4681-a56b-bb2c776ba92e phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:23a604ad-5e1c-48b2-9191-985db17e421f phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:88340c61-d1e2-402a-a4eb-6675fcd1fb78 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3a9c8fe-23c5-4ed7-98ba-5c26d9d14642 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a67f7f31-0126-476b-b0b7-888df365203c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0ed8b586-6f3a-48ce-94b3-ff8bad414a24 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:30f74093-ce65-4330-a3b7-f4a28c5f7e04 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58ccfbf5-903a-4fbc-92b0-395a7d608313 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44d571a4-cffc-4c00-9144-49292c3c89f4 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3b26d139-5872-4905-a1a2-573c5346bd0b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a464fd90-77c5-4d33-85aa-45d5be2dfb4d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:48ac9541-06d3-4325-8ea0-10d4dd6487eb phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e203985e-418a-4eb2-8a43-678abee3ad75 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:05ad3348-f705-4185-b576-eaa63bc23f5b phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:010810bd-4869-4893-8a95-495777ef471d phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:44dd5819-8e5d-42e5-b19e-d3600104e9f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f0b2ad4-e194-4cfd-a3c4-640a8a1967e0 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c85f7fae-004c-425f-85c5-17f4ebf44847 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e0264bc8-9a88-44f6-ae86-a57501d38ec9 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ca593597-633e-4ed7-965b-9132073ebacb phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f1dc4e1-db76-402c-b0b4-bb4ba9b56a67 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ad907e9e-b661-4f91-bdd1-5afd732a8ab1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2396b153-8e3c-45e4-b401-1663261aa4d9 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:941527cd-1f5d-4ded-8a0a-abbb63178551 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a88c3c8-94b1-477d-a2bb-a5036728e4b1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a368424e-69cd-4cf8-af86-e8d570fbdd8c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8b49addc-54e6-44b3-aa5b-0d571d6aee4e phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fc90f79e-e946-49a2-b42d-254245197f34 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2d8eab24-7e5f-493e-80a7-ed316adac811 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a6888ad8-e586-4c3c-bee1-73ca40dbf5cf phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1f82009-fcc5-496f-b0b8-88738f240067 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:75eca3e0-98e8-4141-9832-f71872267480 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:45a9fdb7-92d6-4270-866c-f4799ecbed4a phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a56affba-2d4a-420c-b947-3a92ef6c1ead phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2039683f-a4fa-44a0-8fec-d95bc299980c phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1b9f282b-b778-4d3c-93fc-7d1257829127 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a8203044-955b-4cce-a0aa-bbeda8453d48 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f3da36b9-e955-4ba3-b543-21bd97c849f3 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bf7f8e07-1221-43ee-af70-39b34b53d9e5 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b88e2257-f632-42f7-8e1d-2a9e7bec70e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c6b763c-161c-4880-83ca-e3cac2384e18 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_phenotype HP:0010782 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:bd9260ea-e563-4ba7-bdd8-30bc9bebe9fc phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:a4ff25ec-1ed9-47cc-87a2-394b18b26cb1 phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:d040983d-ebfc-4dac-ac0b-c69b58c9ac66 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:39369315 uuid:87e3032c-7f00-47b6-bc94-cdd3b91f8925 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:de8a1034-2b5c-4da3-a4fa-a3a6fe608ff3 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9944d737-fef0-4e77-8ec1-975a063e786e phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:d42181d5-8b07-4b6f-8983-31beed1dd0ac phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:443724cb-0448-4654-82d7-935ba129685a phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:b7e8d3d7-9c30-4b53-9b03-8d8b53eca77e phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:4df46172-8379-4f61-ae77-44fc9dd1d500 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2532a629-05fa-4ff8-b3ff-00d65dfbb5e2 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:060ef20c-337e-4a08-820f-375feaf7f9b9 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:651226d5-1363-4206-ad4a-501aeb926302 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ea7afb60-2a74-444b-8418-5cc9a95082e8 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:46425f60-6cf4-40a0-aabc-33d34977b6e4 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:0caf4f74-4df1-47ff-be91-7780fde3b927 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:6b39b2c9-4e48-436f-9d1c-e6cb6dc53338 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c0025482-bb95-44ba-9fbf-9527963cebb0 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ecadef8d-0520-4554-be2e-149ced4a9c4d phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e3ffa4ae-9c18-4856-b673-9dd47bd9af54 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a9fe45ab-f47b-4161-9bce-015166bc3dec phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:15bce6a6-3b26-453b-b755-1afe0a0d0758 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:ab4c577f-6f73-4e3d-a897-4ad138d02fa5 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a7ee089f-df2f-4dba-8ea5-462fe65967df phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:80020d95-d4ec-4ff2-904e-eb0c1d785e55 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9159fb35-4e58-42c4-9b70-436b13ea1744 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:2f9be8eb-7724-460f-844f-afc35008fe8d phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:86bec603-ee94-439f-aab4-1e42c9ee3a44 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:513d2cf0-99f5-4e41-8671-e1f0d967a2fb phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:9bbe0d80-995d-4faf-ab6b-82821c23dd6c phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a67c48f4-c628-4851-b51e-7f58eb3f771e phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:30ad5603-25f2-44a6-9b5a-6b9e17b24cb6 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e60fe695-8e33-4984-829d-53a2b8898bf8 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:c10f8f92-9eb4-4cbf-82a0-2ad98917ba6f phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:47669a04-5ae8-4a96-9486-859b8d1db6fb phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:8585da45-38c4-43c5-b4fc-2992f0aa4ade phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:93342c89-7a20-467f-8c40-de17de915321 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0031061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:cc06802e-ddd1-49c4-ab76-c96b95313647 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:f5b09687-2733-4bf6-b56e-8bb1b106250c phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0012429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:558eae36-2632-4d87-9b81-fe85cfa3fd42 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:52e56c40-87ee-40ed-a875-f2da8836abcc phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:a765d4e7-66ae-425d-9d74-acd30bb9d5ac phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:5aa43c3b-f981-40cc-aa3d-ac2cad0c8135 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39369315 uuid:e4444ea6-6875-40b9-bd6d-e1716d2de8f8 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:6b7d976e-cc9d-469c-94e4-76f15089c1a7 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d94a2d76-fa0f-4c2f-9760-10b68045a8c0 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:b3e5b6bd-cb08-4e46-97e1-6ddede8bc3a3 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a87895ff-dac2-4e10-b7b8-33dd0a34e955 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:dd1c6273-57a1-4355-a4f2-b316d6d5d58f phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:36aee589-b1e0-4902-a8a6-bbe3b0b0489d phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:779d9f09-c7de-4039-ae5a-270b859aafa5 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:22530e92-b533-41df-b48a-bea0839a9ff6 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3cda85e0-cfd5-4922-b459-673f05358341 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:45a1c000-7024-4b88-8611-7baa08e6e43d phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:ae71d740-15d9-4368-926c-bca03be8e2d1 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:19f6202c-ac71-4800-bd8e-408ec4f5225b phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9a41bd3a-fec9-45f8-a30f-34d4b5abc010 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:50ffb8d4-bef1-446e-8fe3-01d357c200b7 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3a767971-9f17-4b27-b709-3763455f27bd phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:313fab8d-07b2-43f3-9818-99333840542b phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:dadf3fe0-cd98-43ce-864f-5e00258ef349 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:3d626915-a7ae-45b4-a4bf-46d68cfc51eb phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:cff0a046-b83f-4ef3-b86a-55fb8f071521 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:8e786e2f-9422-4dfd-88d6-95fea250a217 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:d5e62fc8-6a60-4571-93ea-400d5d362f90 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a6508e8f-c13c-4782-a57c-6e84d16b04ee phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:9cb2ba61-6e9f-4ed5-96b6-97b9c999338e phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:498031c7-19a9-4fca-89b1-9958aeeded56 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:2ba7aa04-405d-41fa-a39c-9a7cb5e785fd phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:f724d7b0-8ea4-4d34-b7e0-7e4c4288b486 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:a2002004-4286-4c0c-a1c5-e199b53e6274 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:e4742e6b-e4b2-4cac-a6f1-a344bec7ac79 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:0ce15ebe-844b-449c-9fa7-68f518728cba phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:416aa7d1-b3aa-484c-80a1-1bbe3c8a5b2b phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:77a65d6c-6fc4-4dbd-92c5-8196ab3e7af7 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39369315 uuid:c4d00436-9965-4acc-8559-dfd56adc179e phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:06aa9af4-a655-45bb-8387-35df61b37709 phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39369315 uuid:e0f08b54-bb53-4a41-8f8b-ba45261b61a1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:3dff5934-a518-426b-b34a-8d954be3dbcb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:7e890dfa-c547-42bf-8458-f7f2ca41f837 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:29b754bf-47d2-4b24-9f05-1d4327334472 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:8e5eb9bb-f1e7-443a-90bd-1cd4ce4597b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0e47bde9-33be-4a66-b148-870bcf8f691b phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:9bb799c7-1916-4ed1-9b89-e383aacd52f6 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:0c48ce33-2124-4161-81f5-3f8cf0e88160 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:c884813e-0901-4a40-9a99-c01218574b9e phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:d4f9d7f3-8005-4a97-b4fc-5dde6aead311 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:dad87a3e-9864-499c-8b8e-ecd6e16a614c phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:2065fb4e-3c2d-492d-a9ee-18071af7f735 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38991538 uuid:859e7fce-ff37-4ff6-b053-150ddaccdda3 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:160407ef-eb6c-4e9f-a0f1-82e2bed5a60b phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:952866cd-5be8-40fc-b92a-3c2e15f0304a phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:76ddec85-119f-43d3-bdb5-5eaae9e435d8 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d9eaf7ca-9841-4ea2-a338-0aab0dda98bb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7db592f7-fafc-4863-ba67-439ef1e557c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:245dda87-6d1e-4dd5-9a44-bedf1aac54fd phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35d96edf-fbd2-42fe-a836-425be3bac70c phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8555d3c9-becd-4351-b5eb-266e8e204bca phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0034323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:94c4f3ce-ccc1-4b35-bfd2-1210271afed2 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fd9574f0-aff1-4c20-b12d-236eaa241b4a phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:63f9455c-1c16-4ab6-999c-f6d5124e5888 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:2e00d26c-4a1c-40be-94b2-870eef422c9d phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:50ea41e8-4bcb-43a1-b4e5-9c577a3dda22 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:6000029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ede81b65-f7dc-4ffc-b2b2-d33e516ef035 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:430e6869-8f72-4e33-bd5e-a83fe8ef0dad phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32eb7dcc-f485-46bc-a2b8-f4a17953ffa4 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a10b0b30-6f7d-4582-b590-3bb14f447141 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0012169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d64ddd42-5811-4c76-8243-ae229380140b phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5fe72b23-9a4e-478d-ad5d-2fc228a53817 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:99abb650-519f-45b9-bd10-4dc2f82e7890 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:cbf0e138-98f8-4687-8e16-42cd59971aef phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31e5fc3b-e67c-48bb-9b6d-6610ae2dd932 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:351a6fe7-2f4d-4189-9a4d-8af679e4d324 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e8ffa33d-d5e8-4254-8515-0ee0b37ef8d2 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:fb33b001-9dfe-4d43-b7a8-6381e21aa4fa phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0033715 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7ff9db06-76b8-4d70-aee1-eac3db61ae56 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0034454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:1f152e44-0e50-4d3f-abb3-89a10d6c8590 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c690fbee-03d4-493c-949c-bea77182afe1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f861a14c-1e5c-4905-ab26-4d8ce5c2a8ef phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c4abc158-8b0d-4b48-b97d-38480765a399 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c6a0e97-69c6-482e-8c36-e0691d9db086 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d25a6600-9618-4ccf-ac13-76c11d33caef phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d5fff1c-ccde-4415-97f8-44f307324d2c phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001339 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0cd0cc6a-b8c8-402e-b035-6716fd496ca5 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d35046e7-a16b-4a25-89ee-a65c5174f2c1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:924f79a4-1916-4ed2-8643-8f69b961e409 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:08b643f0-b97f-4d24-b0c2-f5e61eb576cd phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:688bcae2-537d-4ef4-b978-2ee40b4cc188 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4c9d8725-fead-4799-b151-7590e89ecd05 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:debf5172-2985-48dc-94c9-37b41da009f1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b0cd0fdf-ba04-4030-b86e-d710608e5a25 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:52b5b334-4ed0-48b0-bb50-5d70466644e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:46dda51b-5b57-49d2-98b8-0f11d054df09 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c484bd31-087a-47fb-a1ce-3a28062aaddb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0034494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c3e34991-6022-412f-ab63-ecb5c7bc0708 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c825d2aa-a3ca-4ff5-8007-d968ecc893bf phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7133e45d-a76b-4fc4-8b28-3656b0023e16 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98385532-a755-4b04-9dea-a8d3773af76c phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:111b3d99-0b46-4b48-916b-cae69af7a52f phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c05b841-42d5-4f04-9de9-dce21666eee9 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b84fb0fa-358e-4304-9447-a9c6e175d3a7 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0012446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:82fee61e-19b4-45e8-98c7-85e708cec3d5 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000618 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b1cdf30d-1be0-4453-b2a5-6cfa5de9ae44 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a73f1aa1-3082-4471-b0ac-48ce47ca3cfc phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:156d7c5f-6bfb-41df-a7fc-485e3bd48476 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b4a0c4a7-49b7-42b6-9f8b-345de44cc417 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:67daa299-40ba-4f40-880e-36775399b016 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:42a5598f-bac6-4695-ae13-65566a38cc01 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:15828528-7077-444a-bf18-e7bea271c22e phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c10d4aff-65e5-420e-8477-c06c07ee12bb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e278abf9-bec8-493e-bdc9-72c3b4598a65 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f946d43-b36e-43cd-926b-c6948aa889d3 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0011825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:06c88f6f-c144-4848-bc72-88c91ef128b7 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0030822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbd8fd6f-021f-479b-90cc-efc9a5de0822 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f9a403b-eda0-49e1-9a86-77030e137a30 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:297cc576-bbe6-4f83-a922-f9eff4b91a8a phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be7ea3f6-f29c-41f4-87f4-6cc4e50f5963 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dcc32c2a-c3aa-4e70-91da-623041d8a785 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:712c4d0f-b2b6-423e-a194-cfd12af8090f phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dbf8daca-9611-4864-a2a1-23e96f664bc5 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dead42d8-b7c4-462c-82ab-d84cd5b4b753 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:91795560-1661-41cb-ba10-38aa2311cabb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b79f20e1-9a0b-4387-9870-b1471b97e342 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0596b716-28cc-4612-8daa-04a2af1d82d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d6da408d-1c9f-483c-9884-051fc6f5f952 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5416c767-68be-49cc-8053-bdfd760581c5 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:32c9e031-850d-4cf9-b147-891546906f0d phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dcb774fe-5955-44d0-92f6-147428c5d3af phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:20a45599-1679-42ce-b437-8da334b22d21 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5c50efa5-17c4-4688-a46a-d3ae00bba1e1 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a95094b4-8e8a-4752-b7cb-451b0c705ab2 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:be3046be-e550-405a-824a-0fd3a0418c40 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1d41d8b-1d17-4421-8b19-bced2ab51b06 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd076bf9-8082-4867-8799-df853363a788 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:92505f94-f5cd-4798-bcde-147bee4d1f41 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:449f00d1-4a86-4b96-8f6f-661ff9e25615 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c252e009-bd6d-4cb9-ab51-901dd81c3ee9 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:930c4fa8-5dc2-420b-a13a-9c052296eb03 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:780bdeb7-498e-41c7-a5af-e8abf0002900 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0007874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:742703b4-7c10-4d30-8a92-59cb5eac1d4a phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c12a1890-7056-4d89-a6a5-d3668544f984 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:89fab106-1e78-413c-bb25-6ae7bb11b51b phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:43b7057f-4724-422f-8d3d-1b1fe67f5fd2 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0009739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:25f3a9b9-1193-427f-991d-b83b9eeeae21 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:dd0bd2d5-8ace-4a4b-85b4-5b45cbfb936d phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e37bd40c-cefa-4d01-9378-e90b78ca8d73 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:7f9c77c7-f66e-452d-81ce-0c204bd0298b phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5337cf73-195f-4806-8195-b62ab9e48e15 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0b45d4ab-d073-410c-a516-b32c4d7b6212 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:a72817cd-2aea-4b7d-ae35-91fa6244a699 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:98e8e0eb-2426-4e30-bf2d-a6b03fa9a7f0 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:090ebf1e-9772-4027-bd81-bc1ae40e7105 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0007651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:b2424f67-7b83-404f-bacc-67dde07f4bcd phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:c1605d7f-07d7-4490-8dd5-70c0da0da56d phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f0fc1eb7-5115-407a-b0e3-cd7325d36ed7 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d93a4b5b-f8ba-49f9-bf6e-0c0dde0d63cd phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:846b9305-21d6-42a7-8bf5-3a11484972ca phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:5a3951d9-0544-48b1-83bb-0bd42616e880 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4f26f2f3-3e68-4981-915e-2774b8ad7b33 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:70dca832-8c56-4c6d-86d2-7c84122da480 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f1389c64-71c7-4fa5-a892-cc3a090fb44f phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0007655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:35496779-88c9-4142-9b40-2ea0d5398241 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:363b9fe2-9142-4d2c-ae97-d6624e07d31f phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:31c4629b-1981-4112-8b0b-a37b8862c577 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:58b12bcd-29aa-4a1d-9a11-4741d1c20840 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:885df478-dfa1-441e-bb69-497dafc4064a phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4fec2ccb-c647-48f6-ab26-563f63f335fc phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:d29a7e62-83ec-473a-8f68-89d571839bb3 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:e256a36a-6bb1-4f1f-9da3-afe365b3df21 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:64c2519e-b50c-4c89-a246-5b8b04489b06 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:ea2f7078-ba26-42f3-b25d-63ff59c69fbe phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:0d7074f3-7043-4f75-94a6-df3aa1d02ccb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:69a47117-be44-4e5f-a522-2f689b71fb75 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:863f7222-8136-4b0c-bc70-10a99614b3fc phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:196a60fc-9e7a-42ac-a7d3-cf3596d914dd phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3eb08f64-7f58-4a35-adf5-8682b178a6da phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:553c9751-82fb-447e-b4fe-0ad60d228020 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:8772a966-2121-4b6c-a126-0cab80d854d6 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:935d09c3-ac0e-450d-a63e-94f61c0d7011 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0002292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:f7a97d5d-37f6-43e6-9dec-27d6eed028ad phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:3f551626-7b7b-4286-b0c0-173adc472479 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:4b9a7a55-7de5-419c-9302-4f905e4f8dd4 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:df0e47fb-82a6-4226-8d78-a80c24beeccb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0000472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:41115469-ebb2-4cda-91f9-86e7acdcb219 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38991538 uuid:127cd191-87ab-438d-95f7-7ed0647df728 phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_disease OMIM:620851 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:12be99b3-4001-4ac7-9e68-888aa35c70eb phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:has_gene HGNC:10193 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38991538 uuid:f35fc316-9ccc-4dfd-b8fa-796a7e474d0c phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ec4574fa-f99c-42c0-a413-45bac2c1a447 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:befceffd-7165-4c4d-88bc-438a0a91591c phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:354edfb0-18d6-417f-85d8-c5dd557e923b phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6dc5b0ab-c9f4-4ce5-b9f2-a6c24bed1456 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9ed1cd87-b593-48aa-b2b1-72c25b71bde4 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9a749cfe-03d7-4097-9bae-88f4f200c141 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cfdafcd2-94c9-4dbf-b12e-d079170ad6ee phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fcb67073-31cc-440d-bda9-5f438c535da1 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bfb7ba29-e2a1-49bb-882d-f39460256e8d phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1e718736-4458-4370-8eae-ff9484545a6f phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:079526ce-b90d-4350-836e-479c97043ed8 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c9941b53-bdd9-4ab5-b4e9-b09f7d7e7b92 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d0a0351b-c617-4901-aea6-0f3ed24a33c6 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:514f6bde-0c49-4ae0-a5c0-ca541f0558d0 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8a1c78d2-2be0-4e57-9ee7-1d84f7cf2f08 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e9e69d20-0a89-49d5-9c26-b0209fc5ad74 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:050168f3-63cb-4a18-8ce5-6dfd6a7231a4 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a7e9de9c-3eae-4e87-bb17-7af2a91b1eaa phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:64d685ef-de23-455b-a925-175f50a911e0 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:983f5592-aa57-49f6-b3a5-865dccc0fa87 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a9a374fd-7a92-4201-b2f8-fe55e5742293 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:50140bea-af8f-4d83-9d1e-5d4b7e31a520 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:26f4eeea-1e86-49db-8556-49e3e87451be phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6d9adae3-ddd9-420b-884a-c0e21bb998f8 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4803d870-24d4-414d-9b92-459550cf30ed phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:af11c038-5ff1-4045-83f3-9bea000c8c3c phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d0894238-876f-44b5-8353-73196e9aa23e phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a623694b-c56c-4c56-a0f9-758a22d4551f phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:66f83216-1fa6-43af-a21a-1811a146a007 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:82ef42f3-7540-46a2-bbd7-946b3ac239cc phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7b8e94b6-8f8a-467e-b5a1-f06f6c3a1243 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7a47f043-5794-4775-808e-1eb6a10cea6c phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ac0338fd-fb77-4f19-bb8e-81c113331860 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ebbd8924-0333-46ac-94f4-269ef18fc824 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b3d343ed-6606-4061-9448-657ef4bffb8f phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1270fde1-d5e7-4858-af04-9c5518f5d060 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5fb26bb3-aab0-4989-989b-6840a4dcb17c phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a37a55de-41c8-4519-beec-728339ff5bd3 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:930490aa-777b-4f51-b8a3-5d200cf73b9e phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6f265470-46c1-426f-8266-4891aa4c27b6 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fecda0c4-8890-466b-b4a4-81e2bd166162 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b1e50fed-8c94-4511-a96b-9ea06bc71296 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a4e9098c-218f-4012-9854-d4ca847e8133 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:18f9026e-f771-4bac-9fcb-778fde20480d phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:76bf1c3c-bb6c-4f59-8c5a-39375f38b281 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:16cb0bb4-47eb-4379-acdf-612db80cfb41 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:eec44147-b51f-4e02-9bf4-91a6418df564 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9912a805-2c21-47d8-a949-c8aebc31d56a phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:573f30d8-c7e8-4017-8ad2-007c3281b761 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:88f41cdf-f685-4fe3-8cb7-d2e3f9ed2231 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6ca6b253-ab88-4243-83b5-1e3c14165fce phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9483a1e7-455c-4128-8599-f3c8a160c3e1 phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:10175475-b388-4152-99e3-5787b96baf3a phenopacket.store:ROR2.PMID_35344616_A17 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:d546cbde-633b-43d5-ab4f-c91642689d80 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:58293546-4d50-4018-a344-1eae0875d945 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:b8576400-bed4-47bc-a991-a76b54fdf11e phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:3389e247-daa4-4d78-9e93-2284604a6557 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0009232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:f1da98d1-79d4-4960-9ba9-0070eae5282e phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0003083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:05311755-9404-4e2f-a52c-6a14470452a3 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:d5735e91-11d7-41c3-8854-67fd328cb04c phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:5fc36f2e-ed91-462d-b6f7-bcb0ac376cc3 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:62d344e1-6e9c-4f3a-a8e2-dfe26b18adfc phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:ab3f8902-5edc-44a7-8b54-5ca466804299 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:a5046e70-0008-45ca-a267-46593696a79b phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:b16e3aed-02d2-4b05-8941-0baa21adf054 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:c93a7dbd-486f-41f9-9f52-4dcf06bc8b47 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:87a1dbc0-8ba5-49ef-a98b-f7c2129264a9 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:a402d699-c02b-42d4-8220-04bb0568a8f7 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:0fc3d001-ef66-4906-937c-017a168da49e phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:c98c725b-aacd-4412-85cc-0eb389c4ae35 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:aaa072f1-c4bd-4f0b-90a0-f119405ff82b phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:160c5456-8fc3-4ce0-869e-5f8db218044d phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:cd8300b0-5cd0-4a3f-a4c4-1b3d7d3dc2df phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:c65e8d10-fac3-402d-8957-dace306b7324 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15952209 uuid:80d17981-80b1-4ca7-9f2e-b3da287f4271 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15952209 uuid:78316835-759e-4306-91fe-094932efd8e4 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5b352428-4237-4b18-8779-0d311b7a9a08 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1f05f983-4dcd-49fd-9d59-b02103824c90 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:773bfdbc-b276-43c8-93ca-d4cceadd5151 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3690c733-e4f7-4f34-b891-0542a4591cd1 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7a31e7eb-67b7-416d-a3f1-b94c71ee5c83 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3dcd15c6-e4e8-41b0-ab2f-ffb408f2ccd0 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:89061511-b218-46b8-a1f2-8a4a44ba4882 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d388a2bd-e378-4030-bf3e-e32a6a9933df phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:98f488c2-8ee3-4f93-8eae-3a9f6234611f phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9fb79a43-88b8-476d-a7f7-8c42e10b0085 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:08d39114-8796-4d53-81f3-c15c4b1f00d4 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9a4d2914-2ca9-4dc9-a4cd-912ea029ae6d phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:51157d01-8aeb-43fc-9aa3-c348aa45a1d1 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9f2c6339-10b1-43a9-a415-2033b1ba1de6 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b5aa2336-f4a4-4469-981f-f2d5a55c5c7a phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2babafee-ebd6-41e3-a542-0c49b314ead5 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f1177196-4da6-4ee8-9735-89bc1233f90e phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5952834f-da54-48d2-a33f-d44b22e6cd0c phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:71426700-9287-4a2e-b294-72d6eb516953 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:819cdb6c-7f99-46ab-984b-39c9918bc4fa phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:efa94305-b5ba-46df-8214-39b9c9a63a6e phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c77d6ec7-e82f-4dec-9bcc-8a53bdb5baf3 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:72b05e5d-0a45-4733-b575-4deaa1409154 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:937c29d1-09fd-4577-b275-933f138d50cd phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:00e0378c-3d30-468d-b71c-16cd372b4ae8 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:38f5a59d-0723-4267-a3b3-396adcf66973 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:33b308d5-90ce-4069-bf75-607c49b4be8f phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:07a760ae-a22e-4bf5-837f-9e568a0c26eb phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bb20442e-664b-4c96-b703-81a22dae4fa1 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8a7913eb-fae0-4699-ba32-929fb3ba0bad phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bee41a03-437c-4f70-8bed-34ffa0678046 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7b0bad8f-bcd5-4b34-bcd6-cf4731a476ce phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:aa58d518-6763-4267-af5d-d6b536bcff6a phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6ce305d9-b1b1-435c-a42d-64b93c444d42 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:41860085-6b93-4433-bcb1-2bb9866db3e8 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9c17f9f1-fa2d-462c-b0dd-a03629f228c2 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4f1d6b47-ea83-4e6c-b793-053e15beee4f phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:48799bda-560d-457b-9fac-c6ffc7d4c8ce phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:becf6e65-80a0-4cc5-9198-e3e44672b1cb phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:caeb84e0-72d5-4c8d-b125-c60d42ba957e phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e929f573-32a6-4cf0-be0e-048aa701ae4f phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4a88e0d2-3d66-4553-a78f-823599625348 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:22114f85-c70e-4587-bd51-9ed4413e29aa phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a1f88da2-0a45-4c5b-9f23-a63cbefc4623 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5885d12f-7e8c-4b37-9ef9-40fdf4e29ce2 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:aa6f5176-d4b1-4f3b-b5c6-996e687f25ff phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5566a658-7cec-487b-abdd-f856e1ad13df phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c4d587fa-bbde-4a49-bc0a-a3ce36fe8751 phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:e6abee97-78c0-46b9-bd71-d82f4d1480db phenopacket.store:ROR2.PMID_35344616_A2 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:9b157eae-2f28-4ed7-bf35-9e97fb6f3927 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:304a1c6c-a2f8-43fc-80b4-f545b093c059 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:eecb3961-7c0c-4270-b10b-43aa1fd27cc6 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:32c8c7f7-71bc-4877-906d-d9cfe0440ef9 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4b088f26-66f7-4df3-8057-a8124f2300cc phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c13e2749-5ee3-4ebe-a83c-20cd0c099fc0 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d5133808-aef5-4673-bd35-1b292f146838 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:33d6873a-96bd-428e-80fa-6743a3a55efa phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1f311c10-8b25-4892-927c-d471d5d49744 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:73fcbaaf-4acf-4d6a-a8cd-0520be377d48 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:001571d2-ae6d-446e-b5c8-65a8c32347ff phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9c33e18b-ab72-47a7-98d3-0e1b843753f0 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7f6ed2eb-2d49-4e94-80e3-b7bce77d5064 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:654eb8b7-b7ee-4983-91fc-978e87c36dd0 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e772210f-2863-4e7b-8fed-1759f3cfb2e2 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e53e47c9-4582-4682-be68-1611f17ec876 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a24c5de7-fa25-4a26-a733-0dbb9f7208bc phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b995d0a5-fbda-420a-8bf3-f81d71dec553 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b080634f-51dc-4d47-9ddb-10f0ca88a815 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2a7f5df1-b50c-49b9-9795-972c8799999f phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:55f95e3c-202d-420c-9560-9e37e4608553 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0a1fa557-13a3-4eac-9e34-51f15d9e58a3 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d2c257db-6265-49a2-9a8b-95ebca1e5b4f phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e0b860fc-a75b-4e89-a119-c062271739bc phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a0736864-3dca-4683-b3b7-6f6fa3c1b31e phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2cc37688-ff92-4321-9c8d-369b0cd5ab6b phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:89dc870e-6384-49a9-b1df-f7ac1e923d6f phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:80998f04-bc5f-4c9b-ab77-3937429d9b50 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8ca69262-4e1c-4cd7-9c6c-52e322a75368 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0171d20d-209c-4200-bdd0-0247c8164dd3 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e71fe0c4-903b-4c25-992f-49876f4d6e1c phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c5f58238-c5c4-4084-9063-4789cc7d0fb5 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6b4eb821-bb06-440a-bcfe-cc2084f75719 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:05bcd7b9-8c3c-4698-bc74-1ffdbd4f09db phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a728cd5b-4594-40a9-80e3-dbf9dcedbc73 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:31fd3cf0-5548-438d-9fcc-2099787f1330 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3f0082c6-1277-4fda-8d8a-1829e96bb56b phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:03ee646d-c9ed-4fa9-a631-8f47ec5987f5 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:82277183-524a-4aa8-a3b4-c99bd746e02e phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:64385c48-c604-4fd0-92dd-8cfcb06a9fed phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8945b194-4e4d-4283-b042-659eee67ffc7 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a7ff1a2d-04ab-4796-9d20-07628aa1b0d3 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f2185547-cdf3-4390-8e10-1b2adc06483a phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:33cee8b4-5344-4647-a994-fc66d89d4325 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7340ce6c-ee77-4665-a2b9-d1a6afb6c39a phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3b43b7c3-c25e-43db-9e09-c8ccd1d34f4b phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6d70d085-f874-49fe-9561-81de53cc3f3d phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a57d4ad1-a939-4bcd-a8d3-378efb9b08f3 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ce26ffe8-adc6-4741-a614-092d781d52fc phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4a50f635-b47d-4492-acf4-e24831a514c9 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:948ecc4a-cdca-4735-9cd4-b496c10cc4bb phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:05e595af-1a9d-437b-9d3f-a6d030363188 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f124a04b-aa2f-4be6-83bf-d466a844c1ae phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9991de9d-19d2-4d50-942a-2bb67f8c0953 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fb530cce-9fa6-4a81-bc34-220f1b7a373e phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5ab2aa31-c17d-4f75-bd85-c0e3a2d0fa87 phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:fa8282f7-99e1-421c-89cf-48540f6ed1da phenopacket.store:ROR2.PMID_35344616_A19 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:c00650cc-bb4d-4916-a14a-fa165e90bc95 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f9fbbab5-d4bb-4533-b5c9-c0dbf08cb51c phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4adc9758-991c-4ed7-872b-94086030fe4e phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:39916e1d-6f8b-4f0c-9380-31db2f04b76d phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cd2800bb-37e8-4cf1-9d80-ba9e6847537b phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cec5fb29-4a34-4f85-b0c0-a26863300d07 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3e4b95d1-5e9a-43e0-b633-877ba33bc718 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:dda5af74-0355-4056-9806-afd1056d2e6f phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1d9c14c1-cd35-4359-aba4-d0e4038b7e16 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9f66a816-117a-4f34-a92e-e1be5b5107d0 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:86675fb9-8b43-41dc-855f-132dc758427c phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:65349dd6-46da-42a6-ad3b-01b01a405dfd phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c3378def-0f5d-45d2-b247-e8cb23b868c7 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:504dc59d-83ea-4ea6-954c-1d0ff826dbc3 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:539bf2db-1ba8-483a-98fb-e2f3aedeb2a3 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a09a4938-9edc-4ace-90c8-a070acd41800 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6db0d28b-de95-49e2-874a-a3d50432fb35 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8fd9e705-b037-404f-b26f-97c468e0cdb5 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:811e8827-994f-42da-8a95-90f52bc94e20 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7a858451-3193-4c4d-b352-e96e1a1dcadf phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0dcdfe59-ba34-4f9d-bb6a-ef464bf90a7c phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e055df9f-e6f5-4d20-841a-975e86c69b49 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6cd44909-c0e4-4bdf-8ae4-fd20084c2951 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:618a0e87-0918-4777-ae10-dfc04a74593a phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1b734a0e-4092-429f-b1a3-e1eb950e6717 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:23368fdb-9e3b-4d0c-9699-a3cde9af81c5 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5d2fceb7-3667-49d1-99fc-9735abc73568 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fcd06b1f-0441-4047-952a-61cd4b9d4d94 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:254f68cb-921a-4af2-aaad-68dd87608351 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3a022317-bb5d-4b41-a2a6-b7527387dba5 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2f4bee61-07ef-4d8f-9cb8-2fc2a309036b phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9a2ee646-fd2b-45d8-8e8b-cf864df30608 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6140a921-00ef-49b3-b0c5-26d4d79580a4 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d53be186-a284-481c-ab52-a416b158b04f phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4890fb9e-ab58-4cf6-99cb-80a956070e3d phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:10d05664-d0f4-4d1e-a4bc-0a930c968e92 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:45290966-cf07-4e71-b100-5ef8e34c4694 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a3bf159b-c0ca-41a8-9e88-0f4070a2afce phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fb1c8e76-eeac-4033-9719-39cdae0afd67 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6a3553d4-39f5-4ab7-9f71-e5f52fcb9467 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:22e1ff6d-17bd-4f60-ab02-f248cb589d19 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3e1222ed-7278-459f-9b47-dd73ede1c5cd phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ee03e4a5-d262-49f1-b408-43ac4f78f1b6 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1f259395-146a-4b3a-8106-b87bcebc37f2 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:861a1f7e-aa39-499c-ba42-3438db446489 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ecd392f4-c4cb-436b-9c93-4c73a4bc3cab phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d5c22d38-2202-4c10-be12-942b4845978e phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c35811b3-0542-438e-bbda-5f9b1060e614 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6aa2ac82-f741-48fd-9d06-a4baf843f70f phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c3018f8b-f48e-43f8-bb25-7711f1c6e741 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4d29bffc-a1d9-4e69-825e-aebf49a57085 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:973015c9-4aa9-47fa-8612-0c2764f93295 phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b8e0d80b-a4fd-45e2-bb4a-49803d81cfde phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:abfae10c-5639-421b-8941-b5ec0e922dfb phenopacket.store:ROR2.PMID_35344616_A1 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:bd9ee7b3-4703-4f5f-99e7-04d2194b1814 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8bda7c2a-e592-42e2-8c3a-bd59b4bd7768 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:16dc4621-fd52-4004-8ebc-2d77186b0c2d phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f55e6320-42e1-4c12-864a-68cf512e1200 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c0be7494-99df-4be0-8585-82e207bdb0b7 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7cfb1bb0-375e-4a3f-9dd9-31db36b27758 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c7dc2241-ae5a-4418-b1e9-c5f98b081881 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1c9e20e5-8e3b-4351-b275-9cf4069be771 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:eb6c2964-6cfa-446e-8ba7-4c7e08f5ec95 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7fb82505-cd6c-4aa9-b178-bcbd6a231927 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4ad4e297-cf2e-4ac2-a2e5-a50773a0fcc5 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:dabd1477-b7fe-4a46-98c6-c8496ad7500f phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7ac6b340-af48-46d7-89a2-46a30c72b634 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0c83a6d0-02fe-45a9-8f8a-a699f2ba7dca phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5eaa42ab-1efa-4c7d-a244-9878b0298217 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:66e6c56c-0072-4577-ba6c-6ae975f82682 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:705a76a1-b5b2-41e5-b4e5-bce23c0c710b phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0c6cef3e-253b-4889-9aa8-84a8f0170467 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5bde29a7-58a7-4c6c-b08f-8c7f7c427ce7 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9cd7a255-03b1-414c-a977-70fe1c4089d4 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:22b384bd-c7b9-4353-94b9-bbc3262e8fc1 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2fed82e9-71f7-4932-ae0d-3bbdd72fe661 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d8a6f974-baa2-4f8d-9192-cc3eabdea4d0 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8d8e5608-694a-4f2d-a216-12091ad8833d phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8f99f7ad-42dc-4853-a685-862df12e2ecd phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:46b576ab-748d-4957-95d3-ab9536ecf036 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:23beda4b-b7b3-4642-a7a3-59f9e60be6f1 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cd47a465-298b-493c-846a-392a97d84154 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:79c460f6-7031-4ca0-99b3-9f8a61e6ce42 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3e481be2-dff6-4a08-87a8-e056a72d8189 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:50633919-aa60-4823-bfc5-ff72da9bd59f phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4c5219d4-35d1-47c1-aaa6-efe0f01a7ee7 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:63391007-34f6-4fc5-b0bf-0aa484ce3f6d phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8487e3e3-dfd0-4891-97c4-2eb55b964137 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c7396dcc-9969-4bc5-a739-e7684e255c05 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7de764ba-5018-474f-ab5e-d7b2151fafc4 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:36da15cb-87b6-4ad8-92bd-26b2553435ea phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e04dc925-46a1-4b09-9bdc-cf56481c2795 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:be596fce-578a-47d0-b5e3-b7722ee20c14 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f79abb97-cee5-4cf7-83ca-012914f43251 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:783c381c-49ab-4939-977f-f8a1baf41ab7 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:740e9e8e-5fec-4c41-abd7-b03a46472e0e phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:cde78503-3099-4f6f-aedf-74750b90def2 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c835bcae-327a-4251-b3d0-38bbf592086c phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5a0970e6-b23a-4cfa-837f-11e3b86da662 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:91b28b8b-5d36-40bd-b826-e764d3c593d4 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4b44dcf5-ded0-44ed-8720-d972984f7221 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fde683bc-80a9-47c6-bc28-54d625607563 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:21a41064-44cf-462b-a6d5-08433242ed05 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c545aa4c-39af-4ec9-8ff6-764f8c919c02 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:95dd23f6-9b00-4280-b05d-737a1ed510ef phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9b496cfe-d894-4303-86c3-38bcc02946ce phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7ae44398-2530-436d-8663-60dda263df83 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:990f0b0d-20b2-4fbe-b224-54cef959a152 phenopacket.store:ROR2.PMID_35344616_A3 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:e3ebb7a9-b443-4c15-9fdf-98b6d23e9327 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:07c602e0-ec76-480e-b08c-d89fd23fcff9 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8003edd8-a743-43b7-ba59-edf2e1e8c32c phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:03d5bbf8-2b92-43b6-82e6-65b96c242a29 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ef946262-50ea-4bda-86dd-01a0fa50c478 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:981969f3-2c40-4a47-b103-60a6aa807de0 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f2e7e474-289c-43c5-ab0c-41fa253cd3d1 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:766799f3-2229-46e8-8187-d2e37356e0bc phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:72ee1eb3-feeb-4748-b97f-c79ff08b45eb phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3fde530f-ad7e-4507-8f89-ebaa201921eb phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ab803dd4-9155-4364-9862-2654acc31433 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f3d87905-e6cf-42dd-a026-3a4068771046 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:860f019a-f940-4470-8209-ff8edddb0ba4 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3e0682d0-d663-4cc7-8e9c-06cd2cd1c359 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:564e1d9b-e88c-40cf-9c1c-be6969cc669d phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:75806e79-f8e0-4c57-bfa8-825134d8c2f9 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:55cc9688-be14-4c1d-9d86-f1cc77135c34 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:da9e824b-36e4-48da-85cc-96b6ac7fb834 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4717aece-4a92-45c6-9098-088e083e4a1c phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f3ac657e-0e93-4c67-8c59-520f71430884 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3a296250-a3f0-4e28-b14e-6a5f1a191a5f phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:beb1210f-b865-4e3c-acb4-aa86b48f0236 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bbc98c89-22c0-444a-baaa-0d845a4f5562 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fc268a69-5da9-4d86-8d3e-f81b35c938f2 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c89deffd-cd05-4a05-bca0-9f2ca87246f1 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:81821ae2-b7c8-487f-a404-9eb72ae8980e phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0257f7b7-59df-4d7d-b087-feaadc2081e4 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:12e2f8bb-1bdd-4219-b64d-8684dc0fbf06 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f77b731b-0955-4c00-97ed-88318078e31d phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bdadf4fb-95ac-4b64-b74c-c2fffa37e0fd phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5d8d8b45-5acc-46d4-9d33-6448890e907c phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:763d083c-43af-4ede-be50-540cd002de09 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:73a9f117-c050-4e1b-8197-6d29d0f12b72 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:471c2bf5-8804-4ced-a24c-9dc61299288a phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:56c668b4-e938-4955-b978-844bb8a86b8b phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:80e20e7d-a7ed-4f43-b1f5-e2a7254cd274 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f9395578-2559-4dbf-9bef-d1e58fa1d098 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d8bc8d3a-3475-4faf-861a-497e36e65bc3 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dec34d01-b7ba-4d40-9f2b-12774674ad33 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:af4e1287-ef96-4e36-b574-fa67c1ec2a67 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1a7f412e-3207-429f-9b7e-73f33d99a6c8 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e0a6607b-0665-4050-b604-e28689cce211 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5bea207e-2d21-4819-b47d-0b8c8ac3cae0 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1abe403f-45b3-458d-814c-4fd85e47f115 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3eb7f816-7d49-43bb-a4c6-1f0a5e2fbd80 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1ab0d67c-e916-4f42-8b10-3a64cfa01376 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:837eb405-1e8d-4ea3-a7cb-11b4ca8e554e phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d31ce5b6-292d-49d7-b7f5-3d2622029ae5 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d40358ed-80b3-4f91-9138-caeff3c6963c phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:75b87052-2bb9-4f07-adac-a7b527ce0c3f phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f9ac56a1-5e7a-42b7-8c93-34cd1d08d406 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e49eef93-303d-4098-ae3d-88ff8c83ba05 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:cf2bcbe8-abe2-40da-9762-5c785a9e929b phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7e046b98-0242-41c3-888f-a129019a031e phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:330ef486-f905-48e4-a108-19124efa6c18 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d5ff39bd-133f-413e-bad5-7363f0ce8d69 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:9c6a0286-11fc-4fa2-8ccd-b2f9c1e70509 phenopacket.store:ROR2.PMID_35344616_A11 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:5ea3de77-fe0b-45fd-8097-eb183ad841d9 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7b5d028c-fb5f-4b01-b182-f6e2726e638c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4cf8b81b-f86f-4dbc-8ae7-7591348e9713 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1d3e087b-041c-4fd7-84e6-ae51abacb6d4 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:595e9dc8-31c7-4d4a-ab63-4f5ff2ec1ff2 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b2b9bf17-3b7b-42a2-bfb7-90831b0c308c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9efa2be4-a81d-4b74-a1bd-dc5b1d508880 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4178c162-decb-4054-b3ac-1159daf6ca1d phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4611c4f4-07a5-4477-bc6e-943d517e2ab8 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b5fbbb86-a0de-46b5-8e45-4d10bca29534 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:720bbea4-2478-48be-b645-dd07382a9a9b phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b5650d79-07c9-4d34-9c68-983710a4d2d3 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9c3e31a4-53b8-4512-bc21-04232aee65f5 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d75f70eb-9bf2-4f44-97a9-c34857e3cd8c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9ab75a8b-970f-4434-805d-f0886e4c92a7 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:404d5c8b-fe37-4d03-be94-99ff4aacb31f phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:91f60fe6-57d0-4588-8569-048ad2f8a662 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0e847e27-1493-4d3b-b15a-da9cf3e9b5d4 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7b37d940-0847-4231-9f50-691f9d86f57c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2095d57f-900d-47ee-b6a4-2a22aa3fc2d3 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8a1dbb89-6e8e-47df-86ce-555eba702650 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a9df3080-33c3-4f24-a1fe-102db036b35d phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1172eab2-fb82-4745-92f1-ec7b06ca8887 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:288349f3-b56f-4a8f-b5b5-730339cbf942 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9fe579ec-ec38-492d-bfb4-3c74810c1f98 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1d5bc3c1-e72a-47a1-9360-9c00042f863e phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:902ea61f-1432-4521-a921-9065002cfcd4 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6bc2ae0d-9bfe-4bc7-a5b2-6a13ecbf9768 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fc8238d2-e758-4b0e-b626-979df849339a phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cb708ae7-27c2-4a29-a6e7-94f4da883f11 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:59ceed71-0a8f-4680-89e2-0056c0dc8472 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d57955e7-b204-4f86-a898-adcbd61f8d50 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fc4c17d9-6217-4601-9bd6-a3ff4903148c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8bebd887-391a-4c1e-95d9-5a9a9533e823 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e578680a-2867-43f7-994c-6eb0d4b24111 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1924396f-a6cc-4abc-9c3d-87f5bc5d299d phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:652ad924-fc5c-404e-a572-23b0161349f8 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:151b037e-7789-4abd-b76d-6b5f008ca17a phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d60144cb-0df8-44e4-adb2-b4c48501d07b phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1686440d-9f5b-4095-9920-dfd5b51c0286 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6dc26fbb-6406-436a-826d-7eed191b5077 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:55e151db-0f99-4c1b-9281-19a17aa93962 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5f9f04f7-2c56-49af-b0b4-8370e2a2f922 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a6ea7562-dcaa-4d2e-9cd9-68151d9ed55c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4ff5c7b4-0075-4d12-b87a-8ad48b3d57a7 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:83e0c2de-af25-439a-a293-7edf09e34a0b phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6735dc2a-ac8b-4fd8-a12c-d8bcb7192099 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b7257a1b-3e4b-48c0-97cf-d004cc0b85cc phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a262e53c-1723-4d42-8196-4df5de3531c4 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d7e8ed7c-a09f-496d-a832-8225d9df4ece phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:30714e01-785c-472c-bd4f-4ffd5750071c phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4bfaac7f-def6-40aa-92eb-c90a0509d67f phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b8f45013-a665-4729-a20b-28000ae0fb5a phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:485d499a-e1ae-4234-9109-4530a8c579a6 phenopacket.store:ROR2.PMID_35344616_A14 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:54ff66f1-cc61-4cae-9984-43c47400a334 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:72542e57-c33e-4ef5-9d4a-57830b4e7868 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:24d1feb7-00af-44a1-980c-ea3c87cd5236 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9242a496-f1d0-4809-8d13-3d98b38e5574 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:657931bf-8a4b-47e6-851d-5e6fe4d0df19 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:07599d7c-3570-4e26-b4d3-14307b6ff38a phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:722f4576-c21a-4ddf-83dd-5d60edd6444d phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:80315b1c-2d14-4104-8dae-2a9ab180ddb6 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fa931b6c-1f4f-4d7b-a66a-704c65b10bbf phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a55f5c24-68fc-4cbd-ab06-d80a9a5b3588 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:81c67ea7-66c9-4c53-a706-2c5a2a69ce26 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fe77c838-648e-412b-9cf6-36a552678bd0 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c60fd7a3-2c68-4910-9b47-524a80054062 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5e477a8f-367d-4f06-a95c-1a6904be5d37 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6707aa19-0b99-4f12-81e7-f930272e2fbc phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d5919898-dbb8-4f21-808b-4603be137cf0 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c2c63554-7fd9-46b3-9561-2f4aa2cb4775 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6d38efc0-6a3d-410e-9f02-7d4dffff98d4 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c8745678-5c5e-4835-8fb4-59e6b013aa1f phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:03f29afa-8990-4130-a04c-d062119ffc9f phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:25fc95c8-1c26-46a8-88b9-0c8644146c6e phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:01d375b4-83ed-453f-87b5-c2adb2af882c phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e3efd1c2-beb9-498b-80c3-54434d9538fa phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:57d6980e-1523-457f-bc6d-3e323f5857a2 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:981d9193-cf39-4b90-a18b-f71a9ffe27ad phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:79eec7d2-5f5a-4d12-9c2a-5a44aa817fb2 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f8eff322-dbd5-4ffe-82fd-921f152acec4 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:61f51a2b-61cb-4329-bbe9-63de55058b5e phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:aa696603-9a62-4858-b8bd-36ca9d5013ad phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:75b26db6-1e91-4c46-bf6f-525604a7dbc5 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:20c9449e-178f-4925-a287-957a503e04be phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1efff43a-8c3c-4d4c-b030-6df50e248c3c phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bd1df0be-4d6b-4b90-99f4-72a4b9a3abbd phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2b7f17b9-f709-4f45-b898-af864eed9a67 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7fe3c234-2fd3-4b43-b774-2037222d8472 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:87a26f85-d936-47f4-abf8-e7fec29ae3bf phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:905aec6f-3fb5-482c-aed2-1ab905aaae16 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b76034c4-17bf-4bf1-a0e4-598439864319 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:cbdabeca-0e6d-4874-97fa-f7045639c589 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:43f19977-3f06-4b2b-9688-f6aa1f03c6b9 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8a7b29cc-e0d5-4d3d-8943-2581eb25450f phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2b544ba5-ff02-4d56-946c-86672f020479 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dfceb181-c16b-4d65-a28a-6a69d6fb9b48 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:882eb5ef-4da2-4db6-ac9e-764c28a3434a phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:83e4f95f-3a67-4191-8e55-88759c4603df phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a25e4375-460b-473a-915f-9692afaa55df phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c6fb3bba-5022-46c2-baaf-9bd81be3ee2f phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4b231439-5dd9-4c0d-b474-3d7d8b388ef0 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b1b511f6-0da0-4957-82e6-e8f979b9f6f5 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:62eee3c5-8b03-47cd-96f1-920554a8677e phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dfbb9a92-69fb-47fe-bf59-1df9f39e89d4 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bee80909-30f4-4f24-9337-1f98f64aef04 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d90e5971-1ce9-4ac2-9785-56e50c7a1359 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:645b4e26-f258-4d06-a86f-2a7a7451e601 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d1120fef-4c9c-4459-8b2b-ff1c6209588e phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:164f3825-034b-4820-9b60-06c10c050b00 phenopacket.store:ROR2.PMID_35344616_A5 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:dcd251a5-65a2-4f58-83aa-4c3003f91815 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:094e5f87-32ec-459d-9bed-b5bbec7a2ca8 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:a8853096-7e26-4067-a1a3-c11ef9e4a199 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:4b446385-b154-463c-ba12-9bc403907f09 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:4961caf8-d346-48f6-a5c1-1e1228e999be phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:0f691615-b00c-4f6f-9f3f-9e5ea57de6f1 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:22178368 uuid:44661e66-7c8a-4c57-a83a-4af7bdba062a phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0034281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:22178368 uuid:019e8e82-bfca-4c2c-8b85-cfbef742a4e0 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:22178368 uuid:ca4da591-7add-4de3-8251-a6bf765fd832 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:22178368 uuid:ff7bae1e-ca95-48ec-98ea-2485bd7cfddb phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:45cd61d5-31c7-45db-8ab1-86668dbe916e phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:006e23a7-e814-4d2d-933a-118dc3695a2b phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:788dfa00-ef24-4746-aa53-c831682ea90b phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:85ece14f-2ecc-420e-ac36-e8a630a36550 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:0d10878b-df26-4901-8758-e53a90b6c1aa phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:66a99825-3800-4949-a392-fae8391f289e phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0006159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22178368 uuid:dafc3f2d-a050-419e-83d5-bb11fcc0ff78 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22178368 uuid:ab50e3dd-4c8e-4189-96f6-8bd256522523 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22178368 uuid:ab116865-dc35-4688-8453-09a547c909d4 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22178368 uuid:122e9a81-6851-499a-be8e-f35fa5fb8ccb phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:5f44ba53-c7cb-4543-afd9-81c6d18caa57 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:27760e79-76fb-4408-8813-ae0de6191c69 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:9adaa6b4-65b1-4cad-add3-2e8ccf51d349 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:7cdbd245-518f-4342-b522-65898dd5392c phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:4db32b0f-f342-4559-b1ef-41757d194abd phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:557b584d-d980-4c5b-8e3e-3e8252b548b5 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:07dd58d7-31db-44c2-8ea4-fa74daf9bd86 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:1209e3a7-6425-469e-8fb7-a9cf6eb9c311 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:3427f786-4322-4ef1-bfc2-a1816cfccef1 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:8e8bba30-bc5b-4f1f-aa42-af27378e0ffe phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:764c69e4-e017-4605-8f3d-52a8a3cd64e0 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:a72aee97-d342-4c87-86ff-6d9f90aec6bf phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:29ac18f9-b877-4311-925b-63a27f42adc7 phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24932600 uuid:d0f82689-898d-4e27-b8ca-981189164dfc phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24932600 uuid:ac0061e0-46cf-41ba-8eba-cf3dba6bd4bc phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24932600 uuid:2dc5568a-99fb-4ac4-bec4-c01836632dea phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:33953858-a020-45ef-a025-81730f39bcfe phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6a94c057-d899-42a3-b673-7ea9a2192599 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3db727cd-2d5d-4f4a-82b7-8a1d8f7ca63d phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5509fe65-0f8e-4617-bfa3-979efa3e880e phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0a0a9b88-9a14-4815-870c-9c72dc8010b1 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:195e765b-2f2a-47f4-b37d-ac9df357de90 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fd28939b-b8c7-4467-9588-80e31a78b218 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0e2f1057-fc7f-49a9-b493-cafef96bd364 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1262af2f-1838-4744-b3cb-6d12a920ed01 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:693e7ec7-371b-4f5f-b301-b59f3da6d64a phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9c69be9c-26bb-422f-99ac-46c149f3a49f phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b6634afb-4447-4428-837d-76276a9fbe9a phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:291ebc0b-26b0-484f-9266-0fd3df696342 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:369227d8-5088-4d71-aa81-2bd7e0ebfff5 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5ef6cbf6-5217-462b-9190-13c185c76bf5 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0aac5c77-8c29-455f-84bd-a667d00970cb phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e37499bc-2993-4356-9474-558816c1022a phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:27c68350-3d65-4c25-bef2-1b28bd30e50a phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3b51dab0-c866-4c4d-bd5c-b69eb5a1ea88 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:962104d2-cde1-4506-8983-1dca8265c0fb phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6eec8006-7b1e-47ef-9b9d-9c4e27318168 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:53cc6596-410b-441d-b847-89404874df06 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:99ff6d49-9983-4a10-83be-ba6d2940ecb8 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4219b4d6-daf9-41f8-80d5-58d565eafcca phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:379fe025-b34a-4eff-a474-fd85d60be038 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:112bd746-8068-4ea0-b7aa-068f795a8887 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a4e9d3bc-011a-4bf8-8cc6-2536b46b4747 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f2fa66ae-fa01-486a-a65b-1aaa8ee52397 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f3ce3c2f-ac26-44f0-849d-143266209997 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b5dc6eb4-a691-411b-988a-bc19e1dfc613 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:099bce95-6107-4787-8517-b55e36afdfec phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e58329ca-ea35-44ed-98ae-25e96278d75a phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cb0b1eeb-05be-401a-bb51-6587fc790e43 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:373211fa-8880-416c-b640-0f65dbc12984 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8bcb446f-9942-45a4-97cb-578c3db7e71b phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fa1f1236-b1d8-4fc3-af12-8b52476b90bb phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:66fe5f31-3b00-43f5-8da0-5ebd4895bc1e phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:675ca92b-ba1f-473d-a915-6986700596f5 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0ca40b2f-d85b-4cad-81cc-a613eeb40e77 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f8c63e6b-ef25-43a3-b7db-d5ab83a54f48 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6e1760a7-5561-436a-be67-3db0e78d028d phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:761cc6ad-cf57-4b30-b97e-41351a877222 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0d1c82c0-b087-4c9a-be8c-c3871e1ecbe4 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ac1f0fc1-f6ee-42aa-b82c-84daa0cbde8d phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9b10ba20-68f0-4f0d-a1a2-be111cc9be87 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:23714e00-d41b-44fe-ad8a-1ee41ad63931 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0f62dcd2-99ca-43f1-ade1-8f52b99d7d2c phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f45faf8d-d906-4a26-b2e0-8b9c59aff1c8 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b5765e3e-9060-43a0-88b9-010e5ad61a48 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:161e28a8-6350-48d6-8e6d-d58ca5661fba phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:77c52933-f3cb-4324-930c-7b6524b25695 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6bfed329-d97e-4302-b176-3431b266ca80 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:76f68455-6c1f-40aa-a2cb-3b914288ab18 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f7bb747a-36e4-4803-8f09-862346e2650f phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7a54f204-e1b0-4112-af2d-b7e081816e08 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:8bfdb4a5-e483-4b7d-ad88-3fec0c2b95c1 phenopacket.store:ROR2.PMID_35344616_A6 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:d964536f-1987-4f2b-9164-8181e0a3c713 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:0c2f00e4-b6f2-4246-93a3-54ddcd576ec9 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:514532ed-174f-4384-8e78-b015a37c2628 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:b2175e3b-13a0-4c37-a9f1-e94aee6bcf83 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:8c450a16-286f-4e83-b1b9-a5d6f1b9d991 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:f1527bbf-563b-4afa-a04a-f459c60ea794 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0001233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:42bcbc21-d70b-41c3-8c53-9e79636f871c phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0001849 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:42ed9588-747f-465f-9030-47ecdbc731a0 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0200105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:5b70febd-4d03-4c2b-9b34-1ab97c516fae phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:c1e98b91-145a-41a7-8949-a24aefe429e2 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19640924 uuid:f50ceb0d-b919-44e6-ac0f-37293de0e863 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19640924 uuid:2a7ddcea-4673-493e-966d-55e62e1b6c72 phenopacket.store:ROR2.PMID_19640924_patient biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19640924 uuid:2180ea3f-4ef8-49a8-88ce-deadee8beb9a phenopacket.store:ROR2.PMID_19640924_patient biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19640924 uuid:ae52abda-9f44-4c52-af09-9f5d168e08dd phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:e570c81c-58dd-4017-bbc9-c98bcd86644b phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:16aa97a1-3d60-415c-a2c6-b43990e7667b phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:c21b98af-2112-411d-94c2-b939e45624cb phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:a16b1431-0bec-4001-8aab-9ab3e0add262 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:f7a4e339-8f47-4daa-bb57-7025f1147756 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:e8c87517-0238-4f97-8c12-5522a4fd648e phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:739f93f9-5db2-44a2-956d-38f77a041205 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:6f802c7e-abcf-4557-bd48-a3f8fc762e7d phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:65ec2e6b-16b0-4525-b6b8-9f8bfd5e0c3e phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:00c24679-79e7-40ec-aadd-6f881cda7b7c phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:f1e6be5b-f7f9-4655-ba14-02180007a750 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:3ad1462b-4932-4176-9d50-f105f3da7198 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:433d1edd-1ad3-4bb6-bac8-2832a23f90dd phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17665217 uuid:2834ea27-f944-4b4a-81fd-b648726c84f9 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17665217 uuid:6e7fdd9a-3856-4004-88f3-71b63a1bae7e phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17665217 uuid:bb752e2b-cf8b-4e6a-8641-514e0bf351a5 phenopacket.store:ROR2.PMID_17665217_first_case biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17665217 uuid:f59cbfc3-0aea-4572-bfc0-6ec1fb114cdb phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:dd0741fb-6bf9-4451-8900-9f6862d905d7 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0b0d1a32-b879-49c6-bdad-c3bbc94ce0f4 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fede5819-1093-439c-9adb-c15b47a73a75 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ac441d57-ea77-48ca-89a3-a6c4466c5582 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cd81398c-703b-452b-8090-e3b5a982a980 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c22e01b9-8ef1-4d1c-929a-8555eb8b1d49 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:91b3cd11-db84-4eff-8611-40cf35f8e3c5 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:324273a9-746b-4a0e-b354-1cb34c83600f phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0a97690c-8f09-4b83-b5b2-ccd9ce635a88 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0b9086dd-fcea-4f79-9bb8-5cda745c4c8b phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bc24b9b8-818a-4bf5-b072-27ab364d6b0c phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:27c0b818-fa01-4411-b4ea-3dd35affc055 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:02fd9426-7ed3-4916-9997-7c538030d1fb phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d1ba91ec-104b-4f99-9c43-03e802294f0a phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:edb1a45f-f3a6-4e1b-9c6e-11a9cd07f686 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2022db3e-ac2d-4387-8854-50b771cd20ef phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:379458b3-ddca-47a4-b6d4-e8bd7fe2959b phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:336a06db-ed5e-4cc8-936c-1a15e8430db4 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0095dfb3-25dc-4b07-ac81-06d42f993eb2 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b1806566-95cd-4368-b179-dd7fdef03e84 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7fa38c6a-59e2-4cfa-b114-2ce982889a5e phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:852f1ce3-da23-4521-b658-de8447898ceb phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2647a67c-a117-4881-be56-affc17ec84cd phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e4e8e737-6be4-437a-87d9-c692d9d4cec2 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f5895137-5761-43e8-bf6a-45dd473f8c3e phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cff6e1aa-23df-489b-8cd1-5116da3376e3 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3fd156c5-4d28-4918-b7bf-427e01840487 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ac2c98c9-d8b3-48fa-9a43-47c424232d91 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:45e38c73-4805-49e6-b700-7d58c6f4826c phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3c476f81-a70c-40fd-838d-bceec809ab2a phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b27a9109-ae77-4740-aca3-a0f6a836d749 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:80bca69b-c504-4bb5-8657-2515249768cf phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:93282d94-fc47-4087-9336-88afe0f3bff7 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:29b16859-6d72-49b1-b1ac-6e2bd2f87dd6 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ca1ac848-821c-4a79-9ddc-afb2f2cdf400 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1a9af854-3e62-478c-bbdc-72d9355c5878 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:13d7ab05-df15-4e03-8c86-13a9a329cfd0 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0bbba1ae-3b3f-4f31-84af-a294ba50bb45 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:40e7e866-da6b-4924-b1ad-0b34882c5a78 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0b70495d-b698-4699-8485-618ced94aaa9 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9e806451-7705-4863-a040-defae26bf967 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4e0cd634-c523-4ec5-b1cc-853834a10c97 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:720693a3-89dd-487b-a152-30a7c9b91328 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0afda5b1-0521-4078-a251-037185b5e1f9 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:53241a4d-307b-4024-9157-32f1971f7444 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:acf2906d-50f8-48ea-b5c9-8225bf968b77 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:25af0bc2-1f19-40c7-b4ac-118c2fb04588 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:60e6b328-bb04-475e-817c-21f498af0e85 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d4d55dc8-f08f-4750-9078-9c570ffd64ae phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:38271953-8887-4be5-8ffe-7d61c4e91b3e phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7bd11464-35f8-47a2-86d8-b616fa4dcaf0 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e11cb1de-5754-4ed9-8b24-ca6e56883576 phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2f4db37b-f926-4aef-a2fb-8e1973aec34b phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7cd27a41-13a8-464e-9277-0a7a987ac9fb phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:7e6c7128-231e-4881-a6af-b48228f8895d phenopacket.store:ROR2.PMID_35344616_A21 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:c553cef4-2a61-4892-9c75-d4b03aded3d9 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a9cd4667-8455-40d1-93b4-5114f5f5e507 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f24e6c26-def9-4462-955a-ae70a65a65c6 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:40fef058-6652-4a00-82ac-c2de47fce6fd phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:de105f7b-eec4-45cf-bc41-58f73864e6d9 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ea5c0f3e-916c-4f86-8135-88a1934bb3a3 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:55b4f1cc-280c-4502-87a8-6b2688518619 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:db6924eb-eefc-4ea8-b47c-d28ad9b82206 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5b14cfe2-5544-4197-8a18-a1e337a1baef phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c20b5bf9-651f-436b-8e4a-9667316ebb6c phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:39bd22a3-13de-4003-958f-40776b882224 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:34f5aaf5-ea79-419e-82ca-0e4083557534 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a4cbd9d6-8f94-4a9e-ad0b-8533f14d7864 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6841b50e-f272-4c99-b948-dd65055fe7e7 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:715cdfd0-f5f2-48ee-b395-ca02b5244552 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:088c80e7-1a4b-401c-a243-447033672cc7 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9b5a60b4-4eea-447c-8afb-4a3a3a240e98 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:dd802ee2-0209-46dc-bc92-ec31bcde77c6 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:017ca9af-85e9-4633-a44e-bdd61284c365 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6e6e2880-8de8-4448-914d-6758a36654a5 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3d19282f-23f9-435e-8ca6-fc99e2d0e889 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:74f55651-06cc-439a-b218-7cd5800f96da phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:742fed69-7f55-43e3-8702-806285706b04 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:765d9bbc-cec9-46f2-b5d3-115f1324aad2 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ec104e62-2506-4285-aa7e-18e00b333b6c phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5483bdd3-ab8e-40e3-8a90-a1fd173abfd1 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b480946a-2695-423a-9f61-d6908907f545 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:87ec74c0-ba9a-4182-b727-9707e055d180 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b2c61434-f97a-4cd6-b9b7-98de8751d144 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8aaa5dc0-2bd5-4fd2-a61a-43d650ef72ce phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e13a500f-be5a-4f9c-bd5b-f14193d7eb73 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:340103b3-5c46-4cf6-be88-90ceac1f7e44 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3c8a7cb0-cf03-4d5a-8b08-e52648301ff1 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:24d32a6b-a19c-48f7-97b1-f62462c3beff phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2d6b65e3-25f9-4e66-b8ca-37391b258ce1 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5aed5bb6-d5ce-40c4-a426-c8d76f20306d phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dc2660cf-0697-464f-9528-c063d35f0e42 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:001ecb3b-0bac-4070-9ad4-2fc9d7b2d905 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:43558652-1546-488f-9de8-4c605e01c0f2 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3fda1723-17b1-4eba-8221-068664d50ad7 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:35ea9f1c-1d97-4cd2-b665-10d97eec51a2 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:df6997d9-13c7-4a55-b5ff-5aa429143d91 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:17849552-c244-4096-bfdd-3172bff52849 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:331b29c8-0b20-4127-9f77-3a20b27787cf phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a61cb2b0-f8f1-4b4a-a678-965246f69903 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7c42135c-7638-44da-b6cc-1bdad84f337a phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:36df2442-5b38-4ef9-af68-1c8fe619dd6d phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:061972ff-0b4e-43d7-a984-42395a9d49f3 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c266830d-45c6-4389-bc0c-dd484ee21830 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:61658104-1e12-45da-8d74-f90ef2bf0f93 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6c2320f2-f61f-4528-917c-bcc6dac02c5f phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a5572cf5-c6d3-4084-b468-50d09d139256 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f2a82cd7-7c49-4eae-8854-b9ea90d05129 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:67a53525-9b54-4fac-afdd-46327defbfae phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:cdb1de91-297e-45fe-8f9b-71a101e6e0d8 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2e48205d-bbfa-4bd3-933d-b75b0435b215 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:e494d6a2-6ea1-472c-bd6b-c0fd1b397832 phenopacket.store:ROR2.PMID_35344616_A7 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:2876c586-6332-49fe-bab4-cc0c88f181b4 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:041ddf9a-a92b-4db9-a15e-0d4b3d5392a2 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5ccc61f4-29de-4b64-8d0e-b44178102c07 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:15366191-058e-4f27-ba75-a384ef0ba293 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e2fb6578-4aab-47f3-baec-e0b05db75956 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7dbb8776-3068-4a5a-b215-0bc074be80a8 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:36b99a4a-22b4-4e34-a57a-16bf4673b82e phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c28b97cc-0288-4088-a799-db41738be089 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8b310802-cab4-4c24-9c0d-52c5d3223e5f phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f1e76442-0f9f-4eb1-9f0e-82b251547281 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7dd2d99d-e34b-4683-b7c0-c98ff6f2c7fc phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:22ffd072-6224-4a54-8790-073369da8956 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1fdff521-2ed8-43a0-8e94-230a51cb18ce phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b4d817a6-b8f3-4528-b581-47fd08c6b887 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:10cf6927-3ecb-4103-a1de-1c7271472d2c phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:79c8d5c8-c170-48ea-bccc-cacb01bc9c4b phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:87c11346-c8aa-45ce-afa5-7f97dca2bfe5 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cb7e5eab-57d8-45fb-ad2c-9303ed1043d4 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d5f6a46e-0fd3-4661-ab65-ead90a3c842b phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:10dcf3b2-10f9-4a6a-90ea-7cfca87f8f47 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a776f599-4d7d-4669-9b35-85ada3510735 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:32217c72-7c20-45c3-8a1c-644d26f213cb phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9456df5f-8f34-497d-abf3-d34d36ebffb7 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c910bacf-3f93-4157-892d-2d5d96e2cdb3 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:273c3e52-63de-4d26-a96f-1b542c373148 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:77de40f5-06ab-4da8-84e8-179b89b26c36 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a0f5e20c-cf4a-4a49-bfb5-fef61e889f19 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:36f59905-4e16-4355-99de-dd34272e93ca phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2e61524d-9945-4fa1-8584-2c27536fbe16 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:61f48544-f5d6-499d-bbf6-caf8fc7202e0 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8930d4f7-c64f-4875-b89c-7cfe320bd876 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:adc32f64-1c36-4f26-b9dd-7e678008060f phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:73560ecd-99aa-443a-a025-ac7e403810ae phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1de78830-168b-4d0b-9695-5b4564f9a095 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e02e302b-2a51-4dba-a24a-22e6e8615a5d phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f523fbbc-2de6-4683-88dd-500f7685ed6a phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:378f1b16-bc06-4d41-ba11-7335b40e47b7 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:52a77c1b-71b8-4c81-8ed9-e44e2542db59 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fc766392-24b5-425f-8ab7-41a92418c502 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e7389202-f1f2-4c15-8d5f-343a0b1d20f8 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:070ae157-9598-491e-a5da-65b9376a1394 phenopacket.store:ROR2.PMID_35344616_A10 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:d9b9ff2e-91a8-4e16-83e2-10f3feb97a5c phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:516211e7-50f5-4573-8544-39f98748f83d phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f26632f9-79f6-4e8f-aae7-d90e87116e56 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2d78592c-00bf-42ee-8fd5-bbeccd834720 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f8edfe05-7719-4cf8-a3e2-72f23b147b48 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0c86739f-2ceb-47c6-bc61-5d6644edc480 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ee269895-8e8b-42d4-841f-dd6b1ce10f9b phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:82ed8a57-d341-4081-92e6-2be860d9754f phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2f0d4d58-4b0d-4b0d-b7cd-1b46c34bbf01 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:34584838-7aff-4452-a187-a174f342c087 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:75214ef5-3e85-419b-954c-5bfb44f56573 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6765a9ad-f817-49f5-8a65-e5260486ddfd phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6b325d72-84ae-4958-8638-f1015e39b989 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:65f461ae-32f4-4319-ad44-6b77402a05d9 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7760349e-7f9e-4e3a-97cd-428c5be59495 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7cbb80c3-5b5e-49ae-9745-f5b06f7d0e39 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4d25036d-c0aa-45aa-8ed4-37c0b25d6eb0 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:09d9f891-6671-4f0c-bfa7-007c83f34b7f phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a94d49f0-3c86-4281-8317-582693c2ca96 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a32555a7-c8e6-4016-99ee-99d3834dfddb phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1eafb66e-716e-4033-b876-a8c3c7c18007 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:174e81c4-f5d9-41d2-b8c7-50adc8ae0400 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0f5fd194-eea8-49c8-962e-5f3739a3bf39 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fc6a7b29-4a67-40c7-bd6d-1ab219fa94ef phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:154e2ad9-0907-40f6-a7ca-6cc2317c841f phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:db91055d-55eb-4987-a015-05e88f947487 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e7b425e5-c1bd-48e0-92b6-fd3805d5e29d phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:36c09a80-0bf8-4f4f-93d6-d57fd26f2265 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:184b41ab-40d0-434a-966c-c4d8cbf9341b phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e8226a7a-d113-4fa1-a722-7d6e0f2874a3 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:293e21ac-3f4b-4e4b-9f95-b94152355378 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:82c71d40-5dca-41b1-ac57-9203d3f92dd5 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:317049db-264c-4918-a1d4-9ff27571a88f phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5df756db-4ea0-4d21-a3ab-8edef3e7de1a phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3478e6c2-fdf8-4fb2-a427-1865d370c190 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c97154a5-9b68-4b71-8ccf-f400e89dc14c phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:917188ac-ef1c-41a9-a2f1-f248b806bc8a phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:12201135-45d9-42b0-b5f6-2fa393f2d399 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:53c72f15-47d0-49b6-aaae-96f5c4b33104 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9828b511-23ad-4923-872b-98938913ed82 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1035ae98-9833-40a0-8373-7d1f27b1c4e3 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7b0409e9-158f-4b50-bede-de460a91f8d4 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:25e954ec-dfee-4e42-afa3-1ba7d5f26822 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ad538a0b-8c22-40c6-8bb9-d5c3d362f1d4 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:54dc75c2-227c-4f58-8164-981bd80a350f phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a829b7d1-670a-42fc-a4d3-2a010f28bbd4 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:282b0f97-be55-427e-8be6-35c4ed869a8d phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6b6022a0-b955-4e35-9537-365813a280c7 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4b307f3d-18c3-4a7d-8b1a-2ba4bd8f798c phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:052ff8af-3d8f-4604-ad79-f9f49716a710 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:249e3de0-bb03-48d5-a4f3-b6f931b91a0d phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2437b47b-8cf1-4d65-94b9-c7f5fecad51e phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2cf2b4ee-f3d3-4ab7-9d39-ad9a07580dbc phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fc6fbbc3-e142-41e7-956f-d4d1c2749bd7 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:37e8f06e-98bd-433b-a4c4-5eaf3ba8e692 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d4326197-abfc-4ee2-a259-f5ed849f1ca6 phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:510c2403-6280-48dc-9e87-6fdeeb987d1c phenopacket.store:ROR2.PMID_35344616_A15 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:2370dbee-4afc-4f64-839b-404b924ad0ad phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6f146c94-7c6f-4656-a11e-1591a55b1951 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:69256e1e-6538-46df-a170-8ee31f021252 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f53a47b2-b24c-42bc-bf66-da9950a6566e phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4d27b19c-0bc6-4404-b43d-6cb4e31fb5d5 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8083e810-8b32-4e3c-8103-b79482ff997f phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b7cfbaca-5954-4280-93f7-1578cc55b43c phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1e7a15b4-85b5-4dd2-89ee-553dc37c0103 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:54b0a219-4a32-419b-bd8b-10dde5109d61 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:97eeb999-4b87-48f7-bd8c-9ac6268229f9 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a07140fe-bb62-4997-8d08-90ab168e16d2 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9d22e087-30bb-4126-a55b-f1455e077dbe phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0710ade5-120a-4645-91b8-71f01feb1846 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:48b148c3-b802-46fc-9bd6-11db0da46374 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b31a7c3a-a974-4a30-8394-20aa9b3afb7e phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:491ba0fc-882e-4771-afd1-f3d2aef2130d phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6e476f45-e5a0-40f8-92c2-426066af6e68 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9ad1e17c-1af2-4aea-aafd-09a06d241bbb phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d1f5a104-723c-42f9-bd2e-ab1088565167 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9dc90ba5-7350-4871-b555-559596c43dbd phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f7c6f76a-21d1-4519-9fbe-408b90f448f6 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dd0e8361-4ffa-4506-b74e-2cfcb80d243f phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1cb70bbc-8bb9-4b6f-91c1-5ebaf44075cd phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ea412465-5401-43dd-904f-c99eb6ecb17c phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e5370adc-a6dd-4786-bb30-f4cff0e9326c phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fef08aa5-d705-4274-a652-db0e8d6734ad phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:009b501b-3201-4ab2-bccd-c8fce28fbe62 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dfa7e7ee-8808-44c8-822e-363cd4411ba7 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:513781eb-df9c-4be1-b7d1-5095fc42f967 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:22084860-201a-4e0d-8a34-f89e8aca935e phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:66fa2c7a-ecdb-4b8e-a957-d77cf69f59a1 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8b2c5169-8e64-4400-90e5-dd2c0e87f4f2 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a87f6bdd-3242-4413-ba39-aeda70aedb64 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5f355ffc-0d35-424b-bb43-4f235e0a7bdb phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:32cb0728-1635-4f98-b86f-bbc689eb7f88 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ae7f0f7f-af7f-4869-bb83-5bbff13a2f58 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ad4f4f4e-39b1-4d16-99ee-5699c2747c0c phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:315f0ec8-9185-4ee5-812c-c0f481ae8e22 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ad1a30a4-78d3-4220-92cf-23b794e10221 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0084b841-a855-4503-bb76-8593155fa31b phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f944d111-0bc8-49b0-bb26-5b89aefb3560 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3c6228d3-1da7-4ef9-b6c2-4c9626a5c54d phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8053879c-2299-4e71-928d-9526c225f06e phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:37c64c49-2893-4deb-adf1-4d4cdedf38d1 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:eab3ce0c-1409-4969-811f-2aacf37c3126 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:acd9e05e-f1c5-4088-aac0-828e2b191a12 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0df02183-c8c5-49e6-96ec-fc10443ed87a phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6442237f-0a36-4600-878d-f21d77a07166 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:210f34de-bbe4-4345-9298-d8b002ebf89c phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a8b813d7-c587-4ad5-a6e2-c59c3199f5ea phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d63735b7-89d6-4ca1-9e1d-f8506f433acb phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:09293853-e3f6-4ceb-8c59-1680717c11b9 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:676756c7-5bc6-4c53-b7a0-a3f451124556 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4ed64915-7c97-45e8-a8cf-d30b16615a08 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:86f8552a-8548-41c9-8e25-224df87947a6 phenopacket.store:ROR2.PMID_35344616_A18 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:77b1cbaf-cbcd-491b-a2b4-3f9d1c794f0a phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c11b2595-7af5-47e3-abbc-a51bf14f5df8 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6798b7ab-1222-452f-b5d4-8d87db06f286 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7d28e1c0-3e59-4fdc-a13e-f5e6323e841a phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c197e2af-47dc-4cfa-a373-1500a27f6541 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7aa7551f-5b8f-4b51-a095-700de363f5ef phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b889a64f-c41e-40be-aef9-feca3c5c7f1b phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f5f50d4f-9d44-43c2-b821-efc0202b7296 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bba3942d-5660-4f13-8972-cee10b954c30 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c9b7c14c-9f77-41cb-871f-649182477fa1 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c34e5951-fbd6-4c72-9446-786c56b63762 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6ebdf091-b3c0-48c8-b3e1-82a1e771d170 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:97d12cfd-58c2-461a-bb88-c04e15c1479b phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:577a19bf-ae04-421f-9e8e-ee65557975c1 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:da93a4f9-c527-4c2f-b7db-db4da25d4ccd phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:512eff4e-c4fa-4253-8cee-b6c32710964c phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:773b473c-01ee-4233-bf68-5645a5455353 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7ebad4a5-6844-4da7-a276-854afeb7e8f6 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b33d6091-f52b-492d-bc63-29056894e46d phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e9556bca-2b49-4fd0-8843-404e74dadb05 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:59961b32-4baf-41dc-a49e-fe3c6fa11565 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e0eb6238-87de-4efe-80b6-dd0d05e5f34d phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ce6886c3-05a9-4630-a940-6104e63542de phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e408e788-fa2c-4ba9-a670-3ba0a0a270d7 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cddb661c-a966-46ce-9fbd-53777c4bbae1 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c0f40eae-b7c0-4104-8346-765f83cfc8b0 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f20b66ca-e2a4-4384-94ca-77491847169e phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4837eac4-b53f-4d2e-8cc1-5bf0b6235b73 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:031a7a3e-9482-4ab6-b88b-ad631e313b0b phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4d3a038e-e588-4692-a029-a7afcf777996 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7f9b48db-1606-4a5a-be8f-80d834f1a34b phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e35c3621-9975-43c8-a124-39fe3fd279d6 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d1e4eb12-ba77-441e-a69a-cfc2924a35c1 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:aa2dcabf-9049-45e7-80ad-4f143ece90bf phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dd40ae31-e250-4423-a55f-5465f4b3944c phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:291366b4-3142-4b81-8c9d-1b1604f7e24d phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5cd1d4f6-12ae-4a25-87b6-fb483c086815 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3b2cfc8b-5975-4289-a37e-13408fc02b54 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3b41a289-800f-4963-b434-4fe7acb276d2 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8f7f2131-3249-4532-9268-6f0b34d861f9 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2388f43f-e8a1-467a-834b-cad640abe954 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6de384cd-7c0a-47fb-95cc-e948b16568f5 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f35389ae-0648-481c-b5e1-64da2237cc7f phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bedb04d4-b35c-423b-a14d-76276976442f phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4b0d9972-e456-48f1-9717-8a6de228faa6 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d8814a1a-6391-4b55-8746-332e12cbd5f0 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ca8c19e4-ecc8-4179-aea5-c70a0bfa45f2 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:43b53b27-91a2-4bc5-81be-a07230e5701f phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:20835f2d-9e00-481c-bc59-d41d3c7bdbdb phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2fcd9672-2f7d-428b-af90-6a37f0279bec phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1034d9e7-f606-41b0-a981-89b1e2a8b288 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:50736cc0-a986-4829-ac23-a920abff0e9a phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:42a5d8de-1469-4474-9aa2-e6379b8e7799 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3b0ccdc8-786c-4ac9-b8f7-bfe301d27f46 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f36e8660-ba20-40e5-aa71-a84ce661d1b6 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:e8ba3f9b-038a-4743-8dd9-7f29e507cab8 phenopacket.store:ROR2.PMID_35344616_A22 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:bb670319-c95b-4a6a-9c0e-06799567c2ec phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:7ca2a2ed-8891-4ede-8664-0f0d006b0dfc phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:fefb995d-477d-4607-a860-612a343bbe64 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:d66ea09c-bada-424c-9eb0-89a8acec63d1 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:adffc2af-6493-451f-83d2-251aef2bd782 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0009232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:4c3aa573-1129-4303-bef9-bc3673015589 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:74cd27f1-92bf-412d-98e9-54d48cc6602e phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:48dc9b8c-9e61-469c-9f73-5ccc04ade103 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:cc9587dc-5458-4976-ade2-2b3e18cf01f8 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:88b2ff42-5232-477d-8272-8c39c384408a phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:ae781060-8338-4219-b659-222213a7fbbe phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:6568fd97-c64b-48d5-b4ba-83c61825750d phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:37544c1b-1789-47c7-a57d-f26132facd8a phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:8fcd0145-7d15-452d-81e7-43485dda76e9 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15952209 uuid:d6a63bc6-8385-493a-9fb4-9530820df8c8 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0003083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:2131055b-6b50-4f7a-afbc-842b44747604 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:2e6ad31f-0068-4444-b85c-aa39181be867 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:5d50331e-3721-42ce-bff3-abb69d22f23d phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:acd55c19-829e-49f6-a42a-97e6bc3f5605 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:6ca9155c-3da3-4cc3-9d97-ffe2f344f9ab phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:6ff14119-3546-4774-b9b1-4c78a563cb42 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15952209 uuid:0525dc34-166c-42a4-8da3-8b26d62e8f2d phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15952209 uuid:8e76cd75-512d-4a67-85ed-6c5394e42ec2 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15952209 uuid:8fd54c35-57d3-4ceb-9f85-3eabe366cf3b phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a549b80b-bce2-4fd8-8a27-ed31b3e42900 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:aa5655a4-9a8a-4723-a75e-154b1bbc7d5d phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b44ac380-4241-43e1-8de6-711cb344fc65 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5fe79421-5e63-418e-8c00-be68fccabc89 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:20d1703d-78a6-4319-89b2-00eecd833971 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c307d197-9751-471e-a68d-b44e7b0477de phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f84d995b-3f7f-4ad3-9b1f-9fe2e3050230 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d5b48505-c2c6-4c94-8c04-72f4d396fdcd phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a09f2a11-88e7-497a-a607-096eac49de55 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7c920c51-627b-4284-b5d4-7ff41d821981 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:23afb983-3d6b-467e-9ba7-5a40fe0e0807 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1abb7ea5-8514-4394-9b12-4b1bb6ef8710 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9f7c95a2-ec26-4e5e-9c97-6a81147660d1 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:63df4f00-83d5-4b09-a98d-a69b61140acd phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9d7ef18a-cd31-4581-a6d7-6fdfac15c7a0 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e7d60ca1-716f-4453-8798-cf417f3c6291 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:64874189-bb93-4ab1-8fab-264d48d9041e phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:edaa5e8f-998b-48ce-9c93-8d97996cd13d phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:98b2caa5-466a-421c-9717-e87059e52100 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5e8f837b-b118-491d-8361-0fbcff33aa17 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b322539d-cc6a-45b3-8a8e-f585f82ddea9 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4b317335-a41a-46f2-8ea0-e70ffce3b08a phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9d0a4c73-c102-497a-8fec-526af0fe5d9f phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a8c6ffa3-dff2-4b58-b25f-b24f96a39808 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:22069297-e951-4cb9-b996-32fd2b10dfb2 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e8942cc5-47d2-45c8-8d6c-b33c558f139b phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1a3d835f-72d7-410e-b189-c483c2543902 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8403721a-7a29-46d3-9987-cf500666099b phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:78aa2d7f-026c-404e-a62f-9fe3b86d0f7d phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:033ee54e-e2ee-453e-ac09-6f531de1961b phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:74e4aace-0c8f-435c-840a-cfd6c1536984 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:adaedfb3-bb51-403c-a64b-b015ddd1bff2 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:aa4db716-34e9-465a-8a79-2abe327f8e08 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f7ef282f-4810-4326-93ee-a0aaf5f2c225 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3148518e-b694-467d-81a8-7e483415d1c6 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f3a5a25a-437f-4b54-a973-90879db4ad1a phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cc69b797-3f98-41e6-b701-245facf743e7 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:35d8e4ee-3537-4079-a2e8-6610435b9baa phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fb640beb-2029-449e-8771-3691ae2234f0 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f41b0b76-eb19-4b9d-9718-a87cc23a888a phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ca08b864-f718-4afa-9272-8efb84daf944 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:f764cfc0-9118-4520-9a87-7d96fde96acb phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c238fd3e-0053-4b80-95db-b4e746b43503 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:81216830-24d9-445a-9614-3bf84da08b6d phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:82e89a09-db74-4bae-8238-b2c3be35fd16 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4edf98fc-1487-4320-9337-6734aadc1d2b phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:37cb906f-8c46-4dad-b864-8ca02d8c5cc1 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e9f31a3f-027a-4ef4-a485-1c4cf4df1074 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5100b8b9-690c-4f8b-b549-313a0676754e phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8eab795e-d4f6-45ff-90ae-1de7777c830f phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:59a06865-5717-42d0-a345-05a01550033a phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:88a9b5b3-2451-4b17-80f5-5ce354d131e8 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:48c39381-7f51-4dab-a7d0-b8f75aa06bf8 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d5db5ef2-2e79-4f14-8c02-992a368b29e5 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:b356d12a-f486-4568-aeb2-0fb3b4e53689 phenopacket.store:ROR2.PMID_35344616_A8 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:f56bc069-ca39-4359-93c2-408d587ed78f phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:246ac5af-ee9d-4166-be36-c321ce08f228 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:84582d78-d0c6-4277-a9f6-b61bdf3eff51 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b22887d8-2477-4c76-ac52-73cd2c45e45d phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d61bc240-816b-4d7c-bb53-b72cbfa785d8 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2e603c67-1bf7-4cbd-9844-15dd8fa67a92 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ae953b4a-5ddb-4a0e-8fd7-0d02d0832ee1 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5d5b8c4f-1dc1-4933-b206-3614e5f4f8b6 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:40b4672e-a102-499f-8485-1e5a2eeed2a1 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d843513b-cf25-415f-99f8-484a596159e1 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:635fd292-ee79-4beb-b5cb-13ebf4316059 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a8544442-ae78-47f9-a6c6-f004d461fce4 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6fe2bce7-04ef-4aa1-bfac-331038e92fc9 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2e578b75-b889-49e2-bbc4-cc79138f7a50 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f99ff322-0a4c-4d3d-b48e-c8d2480375a5 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a8f129cf-96a2-4ac9-accd-d5c6c71ecfcb phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:69d89a7a-c235-4504-b9df-177b0ec36155 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:92c7a08f-1f30-48e9-ac66-3d6869fd323e phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ea9f6bd9-501f-4e50-bff3-04c69603b9cf phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f5a1f26d-c441-4b99-b17f-c07be7efeb5e phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:32d3c086-f648-40e0-bfb3-c336d0160563 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bf3e0576-7c3f-4136-bf42-eb833a98f123 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6b3d9255-989e-45d7-a21c-ded1c01f56cf phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:cca7457a-e61b-4817-b57e-5a5aef5393e0 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:46adc4cf-f2d6-44e5-ad78-42db89c8061e phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f55fca2b-a099-47df-bf9a-08ca97ed7bf2 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e7a404a2-0d0a-451f-8911-b87d1880a24e phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f8949477-8149-43a4-9491-57573c4d699e phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:808c8595-ae78-48c9-b5dd-8d89fc8eea5f phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:65f3b170-f42b-4ba7-8ed7-6a820800fbf8 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b32ba1b9-ee92-42f9-8022-52c403d8539f phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9a0d336e-d3a4-4550-9371-b77024d8f516 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6cfe4a30-e191-45bf-9bf3-5a34a47f587f phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2ac37604-f888-428c-b7a6-898794ebd758 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5e1d097e-c9d4-4a1e-97b8-e4e6ba77d9cc phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9dce5a4f-00c5-4030-a386-ee1d415ced40 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e65cb127-a1ae-4088-9ad9-677197d21dfb phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a2aa985f-339b-4660-bfe4-18a978e0ac2f phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b97b8d6d-7d16-4846-9a77-5f294691a7f2 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:54e224da-c28c-40f2-ae4d-6171106533c7 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:af01ac21-4002-446c-859a-9939765587cf phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:88a571ca-ca0f-473d-8b6d-42ba0ffa35a8 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0a451e20-42f3-4aa5-b66d-d247f0b8b357 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ceb671f3-d4b1-408c-9de0-a308ccae86f0 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bd45e0fe-9fdc-47db-9009-73adfd7e01e8 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3cce45dc-d3ff-4b87-9acf-eba0fade324a phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:30690d47-12d6-4463-b330-242d31d2d756 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4346dda6-f65d-4429-a1b2-2e94f2f42e9f phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1e870e89-2b87-44f4-9844-aa833b099567 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ca614c09-cae7-4f5b-b59f-750e4f30c0a2 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:76a06315-96a9-461a-b983-9720924181b2 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e2f76895-2adf-4a43-af29-6e2f511f6eee phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:342d229d-2107-4d3d-a3be-b218dac81863 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ac2a7d7f-7c2a-4745-a841-e35ddf9a8184 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:cae1410f-6a0d-4f20-8898-0f2008e16749 phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:9e4c6f52-a3b6-4439-9e15-4090c52417cc phenopacket.store:ROR2.PMID_35344616_A12 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:917b4b1c-ccbc-45c9-a5ef-409a5090f452 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2b141253-e8f9-4beb-b0cd-c83a3a8cf90b phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5a6a44e5-f750-41fb-9433-2d01adb7b931 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d8f6c07b-8d84-4f4e-8e71-bdc1347d22d6 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:15882d21-c21e-47d4-beae-2ea677a9de22 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1e1813cd-b3c7-4057-8636-d1056ee428e5 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ac758af5-d1c1-4b9f-bdb0-6c7a8ac09570 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5dc66534-d2e3-4bd3-a43d-d89d5f28d314 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1ca18d0d-ec31-483c-bbaa-3d11caab7c54 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:42bfa465-c15e-4635-b732-0666a7a5c558 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:02eb195f-f2cd-440f-91f5-c1f9a1ac87fc phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5bbd9905-8218-4d5a-b89d-c66a81265c2b phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:39d0303c-76fa-4ded-a439-2298278c9963 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8dfac945-e685-44b4-bd2f-2e00cc2975d8 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ded60cd1-1edb-47db-8224-4db80d7056f0 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d37dc5b5-9b05-4aa0-a4d7-1582e545372d phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:39f074cb-b018-4f75-8566-c408d7cd8171 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:915ceab5-b0ac-4ed5-b32a-39074194fe5a phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4c851793-ed85-42bd-86d9-38c31734f101 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:939678ed-bac7-487d-b894-cbcaadba91c1 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a92ae50b-d86b-4d17-a448-76c7aa525e02 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b07e0d84-79aa-4cd1-9b61-194910161a2c phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9bdc9a97-c4e0-499a-9cda-6867cb4a345e phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5c95637e-355d-4445-b8b2-4fca982bd67c phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:731b3e43-8b45-4352-b2bc-587d0617acb3 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d937cee6-a352-4491-8fb6-e77dd1418140 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:13ae1c1e-7564-4363-858c-04cd2f96ffd2 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1e95a60b-1a8c-46bf-96e7-a5140056caab phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:91e86897-7c3a-4f10-92ab-bb2f42f6aaf4 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:387c44c1-5d9f-4483-abe0-dd90fb68f92d phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:823c56ae-ccc8-43f3-8075-6ae7ce5a6edf phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c88f1d12-c45c-49b1-91aa-919ee6a810bd phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:74af121a-73cf-45c0-a0c2-c883d1a115d5 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4fa067a6-70ad-484e-bf80-1323bdfa462d phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:476893f7-a36d-43d6-b2c0-1b3731bbf61b phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:7ecef779-4e63-4516-94a9-198b2dde9be4 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6b74eeca-0fb4-4294-8f08-f2eab5caa508 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a5257d3c-166f-489c-b86b-17df91e6dab5 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0101b60d-c90f-4ae9-89b6-59459bbdd0b3 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:aa5f71cc-aa75-4797-824a-e191ef06cb4d phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ab756aa5-fee1-4cea-b2c4-26e3573e0f4d phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9e6dcbe6-10c4-49a0-aa1c-d0164579d5db phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2946dc4c-7a53-4466-a90b-b977089a7dba phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e7889aa2-dc79-461f-bfe1-c7893cf36c9a phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:0199db18-04bf-4f85-9dac-655cc56d001d phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:76d90426-39a1-45f2-bc03-18ed6c34bbf5 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e20367a9-0db3-4d0f-8359-9d4cf5855a7f phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:37f497e4-1f16-4291-b01b-f0a0ffca9bc9 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1aea9bfe-ef7f-4a2d-ac17-fef3b663216b phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4d7fca57-5ff7-4ea1-a5b5-b9d7858486b2 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:063975e4-8614-4186-9fcf-0e2eb1a91f2f phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:aac5dfae-5fd3-4cb4-8ec6-02756ad4f123 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b2cca3a6-0355-409e-bbe0-34c60c536f10 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1c88bcfa-e968-4b2d-8a80-2719defd2fae phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6d84d47f-00f2-4932-b157-1a5f0fec0f00 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bb046d06-0e60-4fb4-835a-91cfe80981f2 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:e170a239-8592-47f6-91f6-81fad6dd51a1 phenopacket.store:ROR2.PMID_35344616_A16 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:2e45a79b-5c81-4181-a154-245b9c485379 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9be01555-713f-4824-9432-f063d9f33fa9 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d769b985-c779-4202-b2a6-7b1f88f7f146 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:82a76afd-d495-4793-bcfa-ec8885f694db phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:18520aa7-941c-4656-a1e2-970ce3e2d621 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:319a3c65-52e8-45a4-a8a3-869950ccd04b phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ddea429b-a57a-4655-a033-9e8a95f56a2d phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c2deba78-c87a-4d2b-98a8-a1f41d35da49 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:95a058c8-0d88-42ea-916b-65265fa7c148 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2a2fb5c7-b073-4e22-acf3-9a406fb63ce1 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:91d2d662-8838-4e06-944d-ec7d50060ba4 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f44586e9-330c-4819-8ee7-edb7d1cef877 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bf10e1a1-c5ba-4c37-b3f8-b20c272c80de phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c1d76b6c-2fd5-4d56-ba84-d3aae8eaf217 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:79795858-3229-4be7-a74a-a5fdc06d5433 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3fda5018-d597-445a-bd76-693fc0206062 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a86b408f-c20c-4308-9d84-bd58c78ee80e phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3d99922a-f468-41ee-b506-e9df573733eb phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4381f23d-ebbc-45a5-b7c2-a42ef9f511f2 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:739a5459-1d01-485d-9244-e7232a30c071 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:64e47e9f-237d-4eef-bfb5-834f690258f6 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:de2e099a-51d0-40f8-b83c-65b92f52c080 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:523e92ec-8207-4c09-abf3-414cd4fd682b phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a28b5e55-686a-4239-afca-b26b5b32cba9 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8147fa46-5c58-4e73-8a21-6d3c6c166cb8 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7308ff21-1f5a-416b-aa1a-902de273c78d phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4888db20-377d-457e-9cfb-eb3ca0eb5a62 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b954b606-bc02-4189-9f4b-c8b3d89d5aa0 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:42f433d9-9987-43ee-a1e7-8ad1a67b40ea phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:c5467edb-52fa-4704-8c99-1c765440b70c phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5bdb8a38-90d2-49a6-b7d4-5476f233f45d phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:25741896-dcc3-4ac9-b7b8-8dd1aedc5730 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:820255e0-1776-4091-a320-d35d00d25cc4 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8256e3ac-2132-49ca-ad7d-1ca7d8187e97 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:deea97c8-019a-420c-bfad-48df26c6d2c6 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:87ae4cd4-3e65-40a7-8027-2bd858e85f30 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e07294d2-a635-49a7-b331-3a473095f5c0 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:eec72edc-7640-466d-bb2d-fbf92a96003b phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3b66e623-48ee-4ea6-98b9-132b930de02a phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ba433a9e-c66a-4315-b727-79b8655fa78e phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:2a41ae4f-e88a-4697-91dd-6f4ae35c49ed phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:98db73ad-0208-42d9-9fbe-594b3c1ce26d phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4b022f85-b3d7-4362-815c-28a383c22082 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:69b01d48-6b7b-4cc3-a4c4-3cb8a5c1ee0b phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:e03c5f4d-4ef0-4597-8ceb-48e3fb0a4e78 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:30d930ca-21dd-414a-85ec-56c32dc29f3e phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4c0f430d-714f-4608-85a3-59c70a17eaee phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:47b9c92a-f5e7-4610-83dd-66900b691956 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:59ea095b-450d-42a3-bce0-3072ccd95b25 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5eb49513-8fff-4204-b2a8-31bbe0ed8ec3 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5c389b19-f982-4091-bbda-26ab1d4bb293 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c6962f9b-5a76-4e4e-a263-2a6cdff27b86 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:46d1c3e7-aa73-4662-a325-71fd41a132ae phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:be65f010-9e86-4189-9a00-46e6eae38079 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:43483759-8736-483f-94d3-85076b7df2bf phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:38a65403-d033-4ab1-bf92-f3c826a64e83 phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:24eb56d5-3a51-4073-8f17-ad90781d1acf phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:27af771e-ee45-4de6-9ba6-ff7132302b9d phenopacket.store:ROR2.PMID_35344616_A20 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:3e244a65-207f-4816-9a13-15557f27e5a4 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:ddd5ad32-2096-428f-96e6-0d455a09ca8c phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:591a9acc-dfa4-4d8d-9aa2-aab77fd4306d phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:4f1248ff-427c-4a38-b1d9-0786d5dc0198 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:024d27f4-0ca1-43d1-91f9-58c330189c37 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:f17b2e1a-3234-4cfc-979c-82d9b0571f56 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:ef976e10-2027-4bbb-80ec-8b1192fe0ed3 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:445e0402-b494-42c7-ad25-0c00049047e4 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0006159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:fc367dcc-c20f-4193-a744-a5320695d934 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:05360dd2-62c4-47d7-92ec-099fa96b4061 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:bc635007-5113-4ed7-ad74-c0041eba32e9 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:da5d4363-9974-4b11-b766-b3411f41b33b phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:5718f6a4-c7e9-4704-ab4d-1d3e7b50bfa9 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:cedc560e-52f6-46c0-9af3-7daf45d8408d phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:ebe5fa02-fbb2-4d2f-8395-92abcd1c82c1 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0034281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:02ab847c-0791-43c9-a21f-6f01668ba160 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:6656b230-cef5-4ce4-a614-c5a37b3af169 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22178368 uuid:c66a0966-0d40-469c-b9cc-f99e2ccdd115 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22178368 uuid:0a928712-7a9c-48fd-b32e-4261f89faa3c phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22178368 uuid:93108fe1-2883-4f92-ae59-542558b79a7d phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:285178de-ecd0-4070-8e74-34802f9ba275 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7bc130ab-299f-4881-90d3-2a67a1ee634e phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fedd3e80-1415-4d77-8db7-9ade8e43a373 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:83a51e02-3f55-44e0-80b2-bc3bd2874dbe phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7f141f96-2dd1-40e6-89b4-13d46dd1e58c phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f7ea3654-c75a-4404-97e3-053ac65e8fb0 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0346d3d6-99b2-4ed2-b09e-166e39b6c91f phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:92862c9b-81af-42fa-9f6c-1449293c9bda phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5c53594a-1847-4c95-9ec5-e72be2c792fd phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:700d4b61-5222-4b2f-af3b-30eec8a22614 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:785bbcea-da9a-483b-ace8-d808e256c587 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:1e484381-e999-49cf-9864-cb2afbf9a4c9 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:79b75e10-7a65-4e65-a883-992547db107d phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7561168a-f963-4f75-8a9b-edf71f2b3f95 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8bc9a07b-9e48-4b53-9df4-fe6b094c642c phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:698da367-1e8c-4b07-9aac-72645221338f phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:79f1d533-244e-4614-bb65-8462e02b9993 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7850b516-7cf4-4999-9d2e-9204747dd4b7 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2b811a5d-ed09-4c6c-bfb6-a94043241150 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:eb03c145-c1b0-431d-87bf-ed0bf2521c0c phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0d5c8659-cbcd-4dbe-bd36-05189cc2b114 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:071fe7b9-59c0-4216-baf6-7c867fff6ba4 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:22a91946-c360-4957-b7b1-27f605a271ae phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:781c5050-b0e9-40e6-bfe3-32247efe7a65 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:da5e77e3-7c1f-4c3b-a737-7441aaadffa2 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2e343fbf-870f-4693-ae91-9194d69fdac0 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:068858fe-586f-415d-b9d6-95c42a6fbe64 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:229fb392-d3fe-4498-8fc0-5fdedb9b7bd7 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2dafffef-9a39-4181-b1f4-1fd60ac42e7c phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:19adfeae-6cb6-453e-967d-1bf7b7fdf0bf phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9def087a-0b72-4c5b-ab4c-ff7701901c68 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b67eceb1-6cee-40ae-8eae-5a9836ef70bd phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:05d3bd7a-65d7-4a07-aa47-428b7bcb5a4d phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b5b7f695-ab35-44b6-94b4-02d4dacbcf22 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fd238d6f-6f7e-471e-b2ae-b1babe5a42a4 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e7c48f51-68bc-48c9-ac84-f6ec478a5ccf phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ce520c1c-9b7d-47cd-8f8f-43fd706df1c9 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:096218e7-9932-418a-8303-a694b54062c8 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:467a30a8-4050-48e9-8b7b-0e3aa6a8bc89 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b9ee5a1d-62dc-4e6c-a22b-8887c62cf8a1 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:4bbb33c1-eb03-4e75-a923-a15c456d60bf phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3b4c51d2-a0b1-4f2f-8b5e-f6863df0cded phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c1f9b550-864f-44be-b3e3-f961677a3ba3 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c9f50f7f-4aec-40e3-aa05-ab8bf5adbad0 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:af3dff51-712d-49b2-af23-ac173c31e7c8 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:85345574-f485-495f-aa26-3ecde8dcf09e phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c5fe5919-1899-4fba-a5bb-f2477367c318 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c0f5d22e-1b8c-47e5-9984-849e818f6824 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fd6a030e-b83b-4128-8191-af7d7709750d phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:cea6d1c8-911f-4d14-9167-0617acd3353c phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9db1f3a6-d368-4df2-8c17-bc55c107f115 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:dae83ba2-9ee0-43e8-a85c-7bcbbe5aec12 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:565a5e97-c00a-4a31-8f8d-7e7c03e9995f phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:3a3003b1-6aa6-4776-a2c6-c9da6910c681 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:164512ba-4011-474f-be7a-e0aff1f9008a phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c27dd717-9219-4524-b97d-762d4b55aafa phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:75f0a5af-f383-4ecf-81ab-b6569bece8e2 phenopacket.store:ROR2.PMID_35344616_A4 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:346492db-0327-4d18-bdf7-da29a1a4ae7b phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:116d8335-9ce2-4368-8aa4-01f0e7744b0e phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:1531d027-6aa5-43dc-92bd-1299b83b184b phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:d18d1be0-9fc7-4463-ac73-b3554f082678 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:94ad4e52-2416-4338-a6a3-5e77bf255a6d phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:e6ced50d-c9d2-4936-b614-89219d87a2ec phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:2746024c-2df6-4e53-ac5d-3d4841f37e4d phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:5dbf1d1f-4696-4e5e-a2c1-2bc31a834ee9 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:3ec5beb9-817f-4dcf-846a-5453b6516454 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:8db366e7-064e-44aa-9884-45cb16521405 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:354caf85-0d35-4ac6-a6c6-eb8b0117420b phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:892dcf87-6ff1-43dc-8ff5-6c7c898e5cd2 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:b25bd722-0c2c-46d0-ba8e-2877d3e84d81 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:5a44d8f0-e8b8-4b64-bbaf-d1d3d1f5a78c phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:4f055a6c-4be2-4c95-a7fa-82435b07303c phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:130615e6-a145-4e8e-bbad-96ecc4e1998b phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24932600 uuid:75c7d2a1-4521-4783-ae7e-0abf073452fc phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24932600 uuid:e76ff57d-9464-4834-988b-83223bf170cd phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24932600 uuid:4a198588-0683-465b-ad33-835af70da40e phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7357478d-5d91-46b2-a335-97ad6fec73d7 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:42f2f887-0e0b-47a1-a3db-078c59294b28 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ac44871c-78ef-4d6f-9749-eef4ba20e61a phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:23216733-80d8-4d89-bdbb-13955d83e724 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e064f8a3-e89d-4b3e-a597-102f194908c5 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6ca2f21e-1807-4c0c-ae52-5245ac350af2 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7fa15137-62e9-46c5-a76c-a52685ac03db phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7e51549b-05ea-4368-aaca-de129684eaf7 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ccb0e03e-d691-4aa9-9d93-f8062e61ddf0 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f27c37b3-5ca1-47ab-bf88-149635e65b31 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fc1e9657-86d0-44b9-a84b-bad06b972852 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3afae514-d2ad-4139-a620-050f18f4f19d phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:10e2250c-603f-4b19-8790-e16293c6e731 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:34176c88-b3df-487c-a4a0-efbbff807c2b phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:bec3b5fe-4083-4820-8c1b-084f3d1ba001 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ec2696bf-1fb8-423d-ab85-91f407b96fb9 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ae906d05-67ff-489a-ae71-87c28c39a68a phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5d2ec916-b774-44da-9421-fb1a74afdbbf phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:fcd3b33b-8c5a-4298-83bc-6517df7f1e84 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ff650038-1eb1-4b19-b52d-385887b3f7b0 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9ce177e9-a078-4ef6-b486-f163281cd27f phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6b0d6c9b-e97f-4d7e-a4ff-a88d5828b07d phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b1af81f7-7a3a-4348-9827-9dbb52855e63 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:948ae150-f656-47d7-b81d-6ddc17ac5799 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8a8c0c0b-6c9c-4bdb-8a4f-17739348b225 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8d184a2a-b8f0-48f4-b65e-7a68faa7bcfd phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2be15ccf-edb4-47c7-b984-4cee187e6144 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b95bd366-6610-4323-abfc-12c5d12af6ef phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7e89948e-a8bd-4f53-9b5f-0f9d9b7be442 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e6fa91fb-ffe8-4b9b-a44b-197931b6dd78 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6a13996c-987d-407a-adac-6a57b1d01ff9 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:da516ba4-ab6e-4745-9410-10792f889619 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:935faaf3-7849-462a-92c0-a5e1bbaa5521 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d3db67aa-3f39-4ce4-8bfd-404ef0154de4 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:d874e446-2ee9-494b-9e7b-c99c4756e301 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:80e3deb3-ede4-4203-950f-833831363afe phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:babd9429-8d71-4271-9636-915806ab173b phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:90a39b71-f813-4ca0-bdbb-96317e1629f3 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fbb921d2-edb2-460e-9b2f-213c8eb98d59 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:008b67fa-ed90-48df-9339-96f6ab1d5ded phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:169376e0-2868-482f-ba7f-927138e4524a phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:a8b78cd7-221c-46a4-bf43-245567353aef phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c72b6526-ea00-4794-8d78-58ec6f352d27 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ec4f31d0-c5d8-42a3-b1e9-96b91f9c225a phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c7e9d4d9-2536-42df-8ead-f8fa6020c124 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:deab80f1-e4a4-49cb-9858-85f2466df07b phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ccbb2877-2aab-4575-83bb-a41c72c5ea1e phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:c9b39513-e3ae-426a-a895-b9a5607c830c phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:eb15e6f1-81c8-47e3-b328-b20206b835ec phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:5c459af7-a981-4f35-8c24-8d7245884715 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:d90fdc78-536a-4405-b329-40723c2d448d phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:b1cfbb60-8c12-40cf-b991-229f55eb58f7 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:76c830f1-9a89-4c31-a7dd-74a9126a4a80 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:6ce0c3fa-7922-4484-b155-7e12778f5243 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:459f029a-e807-4320-a9c4-0c8d425bb94d phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:32062ef2-5217-40ae-841c-94e998e6c064 phenopacket.store:ROR2.PMID_35344616_A9 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:a06b85a0-0118-4626-a112-12db3dc89c58 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:a6da9ffc-f63b-4d8f-a0d8-5d12de06ab16 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:4acac176-9ecb-4886-815c-70150cc6bb8e phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:407fa62c-9362-4499-92c2-056766156fbd phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:e5253b06-0f3c-4f6e-88a6-a2a62b10d257 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:9b360718-6de4-4087-b3e9-607e7a5d0a0b phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:a4f5c058-4449-4548-aae7-6a04c4c1097c phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:f6492f3c-a8c1-4f32-9c65-5e50c06c83be phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:2bcc7a1e-4591-4e5f-84ee-0bca61184aeb phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:92baded6-e7c6-405e-985c-079a9a666028 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:fe30d863-bbc9-4cd8-ba98-044714e401ba phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:220ce5e7-bf9c-4362-9a8e-a7d402a95abc phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:36d5b05e-5af5-4c57-bb62-45bb6852225f phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:d6be4498-e49d-41b5-8863-f36925dda8d1 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:fb2bd6fd-d21b-4445-8a5f-49e20f1e66f6 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:19130a27-90df-49cb-aafb-6c34f4bce8f0 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:a242b0b4-1421-43f4-99f2-b10bd05dfa64 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24932600 uuid:b7c6a22f-2e37-41c8-a891-be9473c37f84 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24932600 uuid:9e9303fc-7931-44c8-ba73-df8e26c9d0b7 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24932600 uuid:7ca386e1-7e9b-4bf9-8701-c0aec634e0e0 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:7ed8aa1a-c7eb-4aa8-9b65-8ba22dae91cb phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:3a943c68-d03c-483e-b1fb-98dd87c68530 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:8ef3d076-f992-483b-86f7-f0e5180f74db phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:0827829c-662d-4cf4-b4ec-b58b16d555b4 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:1b1e8f9c-4781-4141-b9f3-7aeeac2e3efc phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:90138a9f-2287-4c2d-bb07-5cb728fe2f71 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:18ebeac8-7e97-49b5-8859-4c1d153d24f9 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:3ecbd216-0484-4737-bf41-149eb484b38f phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17665217 uuid:88abf676-5792-434a-bab2-d7224a004b89 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17665217 uuid:10fcf0e8-f041-40d1-95eb-a5544bff9f32 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17665217 uuid:e8547d7f-d0ea-4545-aa91-747fc1f97b32 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17665217 uuid:58f5aad3-3d80-414e-bc76-579f2a21b3d2 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17665217 uuid:54c8c47a-eef2-470b-82a2-218a9152a316 phenopacket.store:ROR2.PMID_17665217_second_case biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17665217 uuid:edba9231-9bfb-4d61-95be-f4e5d52d8450 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0002164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e95d23bb-8969-4194-bc1a-e10c3ad0b158 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:75a9b4da-5bd5-44c0-bab6-aa2c30998f99 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:6ec7b374-ca5a-480b-8d7a-6c9b15fe2375 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a4752846-9eec-4748-a85a-075003ccbd7b phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0003027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b37aa583-c02b-45af-a7ef-338e68dc4a39 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:e3286913-d3a5-482d-821e-03ed800de96d phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a8272764-55bc-4348-8c73-a39a80c969f1 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:97d3610c-6a91-40dd-a91e-b08e6ddc615c phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:521870a7-9ff1-4d92-a66f-5d330f52ec82 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:741647d5-0374-49e3-8da8-cd21915c1865 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b64ee4ea-29f5-4d55-a35f-41aa652fae4f phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:60a80693-a883-49f4-97bb-4e521257ed19 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:394f4cb0-cdee-4d7c-8844-ebb6565338c7 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:8daa8dac-8dc5-4cf0-ba56-a79b3fca83b9 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a8da20ea-da5f-48ff-b082-ed566acb991d phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:001b0153-cac4-4f1c-9fd5-56f8e87546e9 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:a84eb555-115b-4e2b-942a-830e150a920f phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:3a7d8d26-9fc8-41ba-88fa-6e503a9c0b2c phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:2184bbe5-360a-4970-b443-f509fbbe61d6 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:5bd6d0e4-6bf4-47c7-820e-2ec22772e942 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9291d6df-b8e1-4cec-b928-5dd3bb0aefa3 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:0694b2d4-690c-4c76-8043-995a3f8318ba phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:53f64739-c488-4e3a-8f17-b97c99bec314 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:614ec1b1-d053-4108-8c75-ccf96fe52b9c phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:9af47f05-5bb4-4a73-9f8e-7cf38ae8e295 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:4110a713-c865-47d5-a393-cb39bc48e733 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7c7a90ea-a95f-4447-9217-102fc95b184c phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:b7a9460c-2ca8-4990-aa49-2a4bc6b0c150 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:98dfeb09-6e16-4c3a-bf46-f51e2526cf79 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:17c8dfcf-32d7-4195-8137-c5a2e8aa39f4 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:42e0b766-e1b0-4a9b-aaa3-6f1149ae3772 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:f0ae1cd7-5498-4203-9329-d47165310b05 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:ddb18a5a-4535-4560-a3aa-9c01790ae131 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:698a7b0d-d6aa-498b-896d-0bd7de36266e phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:7d5d7127-dd71-487e-bf6b-a7f769c999c7 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:df259713-c199-4a08-b27b-45e5936a9276 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35344616 uuid:80b97100-8735-4eab-98e3-ab9326ffab30 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:70822b16-57ed-40e3-887c-54b74145d76b phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0002827 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:81908aae-f097-439d-9a13-f1e8c56ecba8 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:814c2a3d-33b9-4fa4-9d49-d07545b86560 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0009804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:54f0612b-b29b-4546-89d6-afaff811de0a phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9837ee06-0906-47ec-afcf-4af00b5aa9fe phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:125e1a3d-0da2-4303-a989-93d7cf968def phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:827555c4-065b-497c-b699-3be84fa359cd phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:ac9fcc44-a17e-4939-b182-1d5c027cbc1e phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:fac0eb0d-4f8f-4215-8141-513363193733 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:1ba107e7-5f17-44c8-8716-68b5f7935631 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bec21a70-482e-4624-85f2-1df172626427 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:58e16161-4f95-45a4-be85-9fdcdf3ac678 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:9dd0e5bd-1d9d-41d6-8917-9959f6db0dec phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:8d562db0-77e8-47bd-9aca-cd1dc528daf0 phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35344616 uuid:bc285699-3b6f-419f-b228-3334d61e327b phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_disease OMIM:268310 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:4a528cec-e149-46e4-98af-6b2c631ea7de phenopacket.store:ROR2.PMID_35344616_A13 biolink:has_gene HGNC:10257 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35344616 uuid:2fcb071b-a38d-486d-be4b-9fc67914e06a phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:17502693-6d1c-436b-b4c6-b6f440732487 phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:d1d41ab8-6e57-49b5-a153-001e6a7725ec phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:cb1872d2-da23-4c90-a54f-2d520ae997dc phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:4d01feec-2689-4e61-82f8-0ec5cb8239c4 phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:98da454f-7e46-407c-a720-661085284257 phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:606f39d1-7051-42b2-a254-b5a625dade33 phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:7cf6147f-4e9c-4d7c-93cc-cea7d01882b7 phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:a302b690-c367-47cb-96e9-9a27af0012a3 phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:3dcfc8f4-96db-4e6a-a4a8-74e77010a1e1 phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:acf5bffd-7f27-496a-b52d-60289d49f4b5 phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:5b6f1600-7dea-45a1-998e-9662c1ef5fd1 phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:4802cddb-5f24-43b1-90d8-b2d3d29b2f1f phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:9acf0b2f-ed0c-453b-8421-114b37487531 phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:cc9d2be1-55e3-4797-84b6-7116945c151c phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:e4538ccb-0f3a-4988-bae6-f2c49c573e72 phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:b22aaa99-6da0-46c9-ae68-2ab253cd8d0b phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:31f0f43a-6472-48a5-a430-dd37d3fc6fea phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:5f0923b3-600f-41b1-9177-7874d59d34af phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:fe66cda9-f4d2-4183-9d46-1a2c733ddedf phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25943428 uuid:3a7a0b53-ea6d-48b2-af5b-5bad41479199 phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25943428 uuid:7605258c-0aff-45bb-b75c-077bbfc63f79 phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25943428 uuid:7c559a10-8612-4d79-959d-69e866ebbefc phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25943428 uuid:0560e164-d34b-411c-aac0-5f65e1fe85fb phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25943428 uuid:30ded334-ae3a-4705-8f5b-ad55cee754d4 phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25943428 uuid:8f6af71b-8422-4211-9333-37468a49fb30 phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25943428 uuid:6f333032-6aff-4a3e-a29b-5ff574d1c4ca phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25943428 uuid:16fe4476-6eff-47f1-b684-67ee4f32fe90 phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25943428 uuid:223233cb-76c1-4cf5-badc-0f424ac215eb phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25943428 uuid:62a56bca-417e-4384-8cd1-c2db33ec816d phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:25785e74-7f68-4860-a101-a4635ebb4b38 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:4f4f3f91-3adf-4480-b918-950c4fb94a8f phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:9ea3de63-8ddb-4a4d-9a51-9ed6ed3ede31 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:7a791798-ea6c-4f62-9b7c-10ce8b1ccc82 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:a7bcfa6c-056a-49c5-8e1c-fcc0121e9e49 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:110354dd-942f-45c5-979b-98bb9786f977 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:fe6c61aa-b074-4506-8bec-853aaa274381 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:f7064e9e-391e-41f0-9687-a0b0ddb0bd65 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:18de5592-f068-4387-a981-85f6a59cdf29 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:f3d4d6a2-dbf7-4243-ad03-06e29e1c4323 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:eaaac09d-99cc-4c2e-b256-1362f3b86b2f phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:a2ee2e57-9444-4d8b-9649-21b3c8f96d7e phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:7183e713-8d71-4f76-a34e-931ee91a80e4 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:16ba5180-c90b-408d-9595-3e8feeffc840 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:039621cb-f8bd-4896-ba41-30455fbfd569 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:50152985-511e-4958-9c7c-67b2d0a60dc7 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:98bfe15c-8d02-4ecb-b4b9-bc6cf9226a14 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:fa335d93-a4ed-4d40-8b6f-a58ad11d25f8 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:db26b5bd-8076-4b0e-b80b-4a947db38af4 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:92d4c5a0-bb62-45cf-a4ad-db81a1523986 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:7eb5e7d3-0c04-446f-b124-6349618f4777 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:55e104d4-6bcc-47ef-8ef9-3144250b4414 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:31666973 uuid:43dc413e-8ee4-48db-bc89-45101cf4e279 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31666973 uuid:ad042a5e-dd27-4f15-8cff-d12559dd8577 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:de2670bb-5c92-4393-8861-21453629e727 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:c2e6268a-1b27-4232-b991-458330b6240d phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:0faafaa4-0bf5-47b3-a7e3-7d77fa8c5fea phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:f2280492-a1c4-4ecd-a9a8-45424d841e18 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:dc6c7dad-eb13-42c8-8ab3-84f9b656acae phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:b3b711c2-f576-459b-9c25-8f54bc6c5f0d phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:9bf69dc1-6cc7-4cfb-a361-95420c6e31e8 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:e63256a1-9513-4f79-b53d-93481fdc9b12 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:9fa94598-8a88-4fea-b75e-fce32b227bc5 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0000608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:ba39a813-d872-4a0b-9367-164ff5719073 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:b81b46ed-b15e-4ee0-a8fd-6f10fd128013 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:e370ba04-1117-493b-9b4d-0d92247ce6a6 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:5b5ab5ee-2c93-4167-9e60-90994432513f phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:a8d08523-90d6-4f7e-a661-d6ccc46b4465 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_phenotype HP:0031605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:dbe03134-c34c-44bb-890c-3ee6d3baca6e phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:91d6208b-73cb-4b84-9988-26cf1f973c10 phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:ee631925-90e0-4d27-90d8-114c3f7fa1e1 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:26992781 uuid:a13c9c44-f700-4927-b467-d1d9e95d2734 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:26992781 uuid:ec671cb6-bdac-4db7-a8c6-d6e9a8130353 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26992781 uuid:c2853228-cf71-48da-95d4-4c271b45a9a3 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26992781 uuid:dd26f648-085f-49d4-ba9b-1130305fa4b2 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26992781 uuid:b5c428e4-21b8-44bf-b483-b7c1060da381 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:26992781 uuid:e0a737a5-a9c6-4b62-b9d9-b241ce3641c4 phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26992781 uuid:f424d81a-d5e6-4bd9-9073-acc831b5b028 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:417e35b0-6293-4f2c-8a7e-2f0fe39d6026 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:d172c7cd-8795-47a7-b025-6b677fd20420 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:239d526c-9889-4332-88ef-65aa55d6b27f phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:ffb2c37e-38db-4934-a50f-2b5769c64641 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:51666e51-afd5-4fb0-a3ad-769521f56bbc phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:8944304d-df91-4dfc-b8a5-572dd973a8e9 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:4eba433b-751f-4aea-98fd-7c00d12f777b phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:e411b7dd-14ec-4154-9263-72cd96e52642 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:10a6ce2a-a3f1-48f7-b270-0c84460587f8 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:547b4356-2a77-4457-b11d-d62e807ed9ec phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:7d100859-d864-4ee8-901d-f0631b75dc49 phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:676dc899-0a62-45a6-bdb5-4de33517f9a5 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:34722527 uuid:157da856-1d4b-409a-8446-6cebe5264ed1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:515d3a0d-a8fc-415a-9e34-a740bd482575 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:4b16fe6d-273c-4587-96c9-ced33c4297a1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:7d3ac494-78f9-4e63-92fb-54389f9c6669 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:326a6d77-5910-4772-8a5e-6b2824c76fa1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:951b90e8-f529-4fe1-8376-3b0fe8a78f91 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:42152799-a911-44e0-aa39-62d36c5879b8 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:8ab4ebd1-b462-4f7f-a7fc-92e536dff268 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:42d81d80-40d3-4c20-bea3-17d9432548d3 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:f0219c27-6e99-4295-90d5-934059d6c1fb phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:6e2c3dbc-30aa-44a0-8e34-85461d81d92f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:3c1c0618-acf3-4942-af9d-6b4d481960eb phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:ff67b345-b5ce-418f-bfad-169320bca94a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:1592ac2e-f75a-40f1-8051-adeb24dbeba8 phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:07e3bf37-cd2e-4a85-876e-2126890a010d phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:c5ab2a21-f733-4888-b2ea-0104b6487342 phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:f84309a0-dfc1-447f-94a3-fab54f9f4a9e phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:e48aa37a-37de-4cef-82ca-77be8fb920e1 phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:a501821a-2a3c-49b8-8044-49230f1c571e phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:9d824f60-6e0e-49ee-ad26-1c2007e6a90f phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:994e6202-7b8b-41fb-99d4-9472748a9cfd phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:1f886c6d-98f6-4fe1-89bd-2dc9999744b8 phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:b2f28be1-b6b1-4aac-8f53-60d957448292 phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:30072743 uuid:2319bd96-384d-4c73-85b2-f4eb54e024e9 phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:ba854e1a-06c5-4b94-a431-41408fc9cfa2 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:34722527 uuid:b50493f9-e902-4150-b262-8dde84cb66b9 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:34722527 uuid:46849088-caf3-4d56-9ae9-439e41ca21d7 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:34722527 uuid:2dc81d40-95f1-466b-95dd-37cd87c789a2 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:34722527 uuid:340b49c7-9bc4-4615-a7fb-a031884aadbe phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34722527 uuid:5798cfe7-cf5f-41a4-8880-82dcbfd3ee0d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34722527 uuid:334ed9f9-3a5c-461b-922f-0c9234445d85 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:dcdd97ca-ecfb-4566-aca8-4f8917781cef phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:0a332e47-620f-4b8e-8334-ff2884e78f06 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:08320c7b-e458-4917-962c-9c6db249af6b phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:cb50819e-8421-43ec-ae60-efa6b1f32977 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:da934db8-c19f-48a2-884c-9daf2baf2f4d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:0c53b56d-a298-4074-a772-7c419623b89c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:34722527 uuid:8b8cd889-11cd-4310-9d5b-34d67a81448d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:3798d7a0-36a5-4074-8f49-f43dc541faea phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:34722527 uuid:ad8afafb-fc50-4853-ada1-ead7579e29e5 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:79e596c9-390c-49af-a438-9fa08d4d84e9 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:f98c096e-87cc-4ac3-b775-ad4c78260978 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:3b435599-29c5-4d4b-a346-f14df015bb0b phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:193eaafd-89da-487a-9862-d569933af0fd phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:3475f742-b9aa-4da5-b96b-4087b08fa37f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:338ddef3-fde3-4aff-a8ca-ceb71896da63 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:b1fa633d-c808-491e-91fa-ca06e284d63a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:4599f3c0-646f-4569-839d-caa5699f46d0 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:d4e91889-8166-4beb-a833-a6ed7d808432 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:71d95735-c3d7-4f1c-b78e-04f8b5551ff5 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:080eb2ce-762a-4409-b83e-a8a16b286c90 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:2eaf6803-1209-4d01-b3f3-cf97d1906d91 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:0a031fe6-5302-4dab-8788-6bafea7061a3 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:cdc8afe6-6e38-4320-86ab-4d6cdda86fba phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:b8e28e2a-3bb3-4bea-a0e8-14d667931188 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:2be447f9-22fa-4c16-ac90-bd0d2dab632a phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:66c2072e-cc1d-47d2-92a7-a6f7c37b0ff6 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:d4f83aa2-993f-426d-894d-3d2fd49caa5b phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:c3ad9893-c97a-4222-bd68-ef9b1c23735f phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:c8219ae3-797f-48a4-b682-52bfa5480ae0 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:fe981358-db1e-4084-bdf1-61fe65c0e7d7 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:3e4ceed9-8c8b-4fd9-a8b4-413f90bc59b8 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:34daa877-b727-408d-94e1-cd1b9fc40f1f phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P2Y5M infores:phenopacket-store PMID:26047050 uuid:20a4c2f1-6f1b-4bc8-9e6f-695dfab68e2c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:0c220592-b4f8-43a5-ad6a-f22348219e66 phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:2cac8ec8-11ec-4172-9b3a-fb48fab2f630 phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:ddf68d40-0b91-4887-a5d0-13b773515e69 phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:a97520ab-55dc-408c-b566-4ca1748ddb5c phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:ddd3ea82-c505-472e-9472-3b4f29769fce phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:ca39a7d2-f217-44f0-8529-c83db9dc2e9e phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:a8486e2e-e160-44a6-9edf-a3f2c7cbbf69 phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:1b0e3096-8246-4073-93b6-33d3849ab817 phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:6bcfbf5e-b066-4062-a3b8-ea7485937d8b phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:d238755e-7c67-4b44-87e3-baa36734da5d phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:fecc39f9-84ee-4d4a-8c7b-14578e0535b6 phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:a6781e76-26f9-4886-bf76-3736e659319b phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:6ceb341c-6606-4367-960c-92d9671a9f3b phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:151b096c-bad2-4d3a-8325-b827affc4a53 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:f15e8b62-8367-4927-966a-bb1f0334fd08 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:97933e0a-7ea7-4bb5-af40-91f72936d689 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:ad79b968-347b-4199-9895-bd6c4f005b5f phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:924f1016-0533-4dd6-bc02-cf41cf55c627 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:58e8eafb-6f53-46e6-8942-2e6c6fd0a175 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:cf406fbe-9eec-453e-87f5-c2783c6fbb4b phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:21437a56-37fc-45e3-9ae0-8c06fd9b254b phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:6976f367-a67a-429f-9f83-db2e54f09bfa phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:b45c2e7d-c434-434a-ab22-1b77f3199b56 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:66ba1f96-3cd2-4144-bf87-8bf34b75e277 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26047050 uuid:a6053cd5-b011-4519-8c3c-2bf80723fe2f phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:331c74e7-3332-4eb3-93c8-3cf8946853e3 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:7159edca-ff79-4f81-8417-0ad75478e905 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:ac72c057-1645-4f7e-9eb2-9fd9f87053ee phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:387de67a-4c93-4583-92c4-11f840c4d7bd phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:6d147756-19c1-4061-9de9-c5a3a816f916 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:f275ea61-4bc7-417a-af01-4ea0257c5d12 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:b9a5718d-9c3d-40a3-bbc7-620d75b13b64 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:32beacf5-da27-4831-8ece-7828d144892a phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:d0522b3c-53ad-4b3a-8b35-ab76b332aaa4 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:b38569b5-9364-444e-98aa-2d6d59e1d199 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:c3c183f4-1bba-4c50-aeb6-978e0d1c3bf3 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:f43a19ec-c9ba-418b-9048-070d0deead25 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31666973 uuid:43f5609d-779f-46c4-8609-8a9555a67951 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31666973 uuid:7d626119-c80e-4822-9660-f386730baf7f phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:28966547 uuid:8fd8d080-5ebe-4168-bcd9-5d0518903ed8 phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966547 uuid:330c710c-7600-4f58-93f2-c582f8afe897 phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966547 uuid:07654d8e-9dd9-4563-8f02-ea8899ad7b0c phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966547 uuid:4d5c37c3-1c0e-4109-be16-afb1bab7f184 phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966547 uuid:6396486a-ebdf-478e-9d17-1b072e4d7f07 phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966547 uuid:205c4983-1e35-49f2-a619-78c072031c85 phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28966547 uuid:e8ee7555-8277-43ad-98d7-46d21f99cdfe phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28966547 uuid:9ff98d6c-ac73-4342-9a25-8389729609ae phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:28966547 uuid:f042d451-c06b-4406-abd1-e1471bd6c697 phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28966547 uuid:7ad56e3a-2d38-459d-8928-dde5b02776e8 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18682808 uuid:a31e50ef-621f-40a9-b2e0-8526ae14c106 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18682808 uuid:9d43f032-7e47-4200-bb57-b00e2ef94ebd phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:0f2d2da9-c39b-44f4-9d74-f2b02ef8e795 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:7d2d88f8-a325-4d04-aa56-3e1de18a1085 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:bad62beb-d9be-4747-b677-f9fb50a0162d phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:9d6eb4e6-f30b-4d65-a051-f92a37158322 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:5b97a955-c5da-4522-9dd6-b35deb3fb7a4 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:19e8318c-dbd7-42f9-829b-961edc306dfd phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:70cb468e-8af6-43ed-8c49-c09b75770b37 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:729fa71a-6007-4431-b8dd-af13db585d61 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18682808 uuid:e2680641-fe9b-416f-8462-295e64d5aa6e phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18682808 uuid:a2f10d3b-b618-4c45-98b4-106cd31b47ff phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18682808 uuid:5528eabf-4156-4422-b22d-db877c1d461a phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:978cfaf1-cf63-4863-97e3-c2859e1130fd phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:3ebe2422-c674-4b6d-8dd8-90b6fe6111be phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:52de0810-8264-4bcb-aca0-1dd846e62363 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:5241dc5f-cb20-4e82-9fbc-2f2a6d7bec98 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:3cec68b5-1269-4c67-9d66-7e417da22cee phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:02088972-a58c-46f8-ad72-edb92800ee8a phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:84cae6e3-0176-462c-b068-4911acd263aa phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:31673158-1dc5-43c1-a0e9-5ec773ad7e5e phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:cf39fcf5-e538-4af2-88a3-90657b6ce0f2 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:2eabc379-ff78-4281-aa93-7379b39b94fd phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:7cc6277d-1542-498c-aa84-a838eaebbc5f phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:26047050 uuid:cbfb43ca-256f-4e89-84d7-4fb11c4c5f5e phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:e6a7fc0f-cc1b-4442-9d9b-567fd42ccc2f phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:14095fb1-bff6-48e9-85cb-d7ba496b8972 phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:9016eb19-7342-47a2-9665-84530439f138 phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:ba232c58-f878-4998-a115-5f2af66d01ec phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:42c0ffa7-e729-400d-a563-7e15551db9ee phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30576320 uuid:33cb5797-c760-456d-b09a-30695c56ae4d phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30576320 uuid:74d64c7f-30cd-4c2c-b39c-ba321e85c987 phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:7c17b1b9-4584-40cc-acb9-480fc91d3323 phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:aee02d91-9a05-4518-b267-2770a70610bf phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:c64623aa-f215-4317-a2ef-4ade946f773e phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:4bb87fff-2b88-4230-b1ff-56b31d73904c phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:ecad964f-e69b-4f7a-ab75-b0aab0c948eb phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:b4eb9eaa-b6cc-4434-864e-d701a149db66 phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:95880ccb-ac04-487e-8c6d-f017b07be941 phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:b18ff599-3372-4b55-a6fb-9061e6a0fbd2 phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:1a9d2352-d964-4282-b815-3efe78113faf phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:5e65cfd3-9ea3-4ce3-bd4c-1dbdd7853953 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:578ea787-a438-4a05-a0c0-2d90ea6db721 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:a2e6a5dc-6396-40c1-9fff-01fa7c3e5bae phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:407ac9d6-07c6-4b61-bd8e-fe66bda601b9 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:caf80c08-a6a5-49c2-86c6-bca42a0ff7b3 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:771035fd-dce5-4b84-88fa-aa349c15dea5 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:d1984e57-845e-4f29-b6c4-cb5aeb96ed3f phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:199c9e70-7d52-469e-8dde-36523c199d12 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:af1ca76d-02d5-4b2b-88ad-f60766668c5c phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:eed36dbc-68fe-4bbb-ab6b-401e36247d8e phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:b510c875-ed61-425d-868e-d663a782f255 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:6c305ec0-ef4c-416d-889e-afffac8b8b53 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:8b9befeb-8273-493f-be07-a6c077a03474 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:9ff6b2fc-5a82-4235-91af-78b7b946c689 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:d2fb3ac4-d878-44d6-bb13-793198edeeb1 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:19b033b1-b54a-4d35-9e4d-9bf15781046a phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:06e081ac-1118-4e93-ac0b-6eb31867f0e1 phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:30072743 uuid:21b36411-fc68-4353-ad15-aa5cc53dea5b phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:4db167a5-951d-4d3e-9cd8-6e3312c60ee8 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:59228ad1-9105-4731-ba6b-276edb18fd40 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:08fddcf3-7cdb-49fa-9f9f-6673c1335f23 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:c88fa4c0-7400-420f-aa89-5c0020df2655 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:2823c013-98d0-4e6d-a4ca-9321abd80f92 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30576320 uuid:98b18059-1850-45cf-8c5a-27eea96c0232 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:d79f2e01-11d5-4bea-bf15-4a4b6f418711 phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:5757adfa-2b59-4cdf-9c5d-737570316b29 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:291caf72-3f54-4161-95ec-9cbc1b30b836 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:cf260606-6f01-4869-bab1-57559ea0a2b6 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:925e532b-938f-45b1-901b-011f4f15ec4b phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:ed069f32-a4b6-43bb-a85e-a5c4d616d504 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:d43ba9f8-a6f0-4786-a764-a7256c30714d phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:e4fa30c0-e706-4303-ba05-673dba7be477 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:e5e6f4eb-467e-4874-afcb-a4eb0ae8a7f2 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:d28851fc-85c0-49bb-b1fc-8f54e34e8bc6 phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:db515496-edd4-417d-a477-46ec804517b7 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:34722527 uuid:b35b396f-0c59-4973-be3b-b9ce83c01f41 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:34722527 uuid:09c62bde-664c-4b24-9d58-10174254c3a9 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:a7b4bf1c-b1a1-4bd2-a5b6-1e9822009e7d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:f91d8ad2-b0d8-43c1-9982-da382e970e74 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:1492df88-1616-4115-847d-e8f3ec2c973a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:bc9c89b9-b913-46a4-a9b9-e8c18c28a414 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:95beeee8-dbc6-48bc-8680-1c3bd881d7ac phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:f2d596b1-9fa8-4771-971e-8d8049bac571 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:8feb0854-8d5a-42f6-b3b0-794e0ee6171d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:09bee5b0-8b1f-45a1-aaa9-6b6cb2b2ee6f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:4c365cbb-3ff5-4ffe-829b-b6aef0dea2f1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:ff906026-3bc9-4c08-8c27-4cdf9b69a008 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:bec2ba4d-695a-4b01-b94e-a4fb33dcc0c8 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:d40dc2c1-5191-4f25-b510-2dc1aa2a25d3 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:3d268935-bc1d-45f4-b09d-5dfe9f6ba4b7 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:f4a27645-1683-48ce-b090-6e36f2218f97 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:d13fa0fa-62e7-41ff-a787-f6bb17d06643 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:84ce91b8-4cbc-47ae-87b4-fe07d5294c88 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:8d9f1b5c-d794-4b8f-ac88-27069c0dfc72 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:3bdc25ad-a4cf-4d19-b629-f3b67937b4a9 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:fb2d3000-9eda-4e53-97f7-7b0160370ff7 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:f2f9ca9f-1cd7-40f3-a69b-5c622a560892 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:6a9989f2-816a-4440-a435-90c784d6b115 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:53666270-854e-4616-ada7-94e45e11f901 phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:d7efdfde-bdf7-433a-b42a-e9eced72f37d phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:cd853d44-b1c5-47e3-9aea-46029cc87931 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:7df19f93-69a0-4fdf-b4c3-3f876f6dfa2a phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:4349e67f-f2b6-4e75-9bfd-983f255b4fe0 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:fd19f70a-37b1-4f16-bfb7-0f3aeaacf318 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:93ac14b1-677f-40ac-8cd0-8028c1f01cd2 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:67effa6d-00fc-4ffe-b5e7-7acd81cab56b phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:87496510-789e-43c0-b057-76513a772d20 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:4595411b-ac39-4a36-8cc9-d8ec324fa222 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:34f2a85f-d53a-4de6-a955-116bdeb4dd9e phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:9db1f8fe-7b3d-4add-b121-4651ea8de18c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:ec113d4f-2408-4676-82db-09391f3bd998 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:26047050 uuid:18a87b74-957b-404a-a859-23a0b0661013 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:104cce49-7ccb-4fc6-a411-cbe98b3e2317 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:d12a3558-64f2-4eac-a97e-a1b22cb20ef5 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:444f313b-ac98-42e3-99ed-ce31f9b729b4 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:75f7324a-a97f-40fe-99e8-2eb876660f78 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:257234c6-634e-4124-b128-f65f55286f35 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:44266f52-5d97-4b07-bbea-07f93551b27d phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:17606dea-eef4-40da-94c5-dc0737d18416 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:098f1c49-dec6-470f-9732-c7759d373e26 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:d0468382-62a7-45c8-bf82-7803670dd0fc phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:bcd1989a-b512-4191-8119-0d0f27acbdec phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:110dcb36-dca9-427f-ba03-abcb367e14bf phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:077e56d9-8fa1-43e3-9c43-c4f17b0837f5 phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:0755ddfe-91db-4491-8ccb-66e13f199891 phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:37d19718-5bce-4a25-8963-8a560c10c8ee phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:5c1caac9-4e4c-43b8-beb6-91a49091ae30 phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:51c95f96-6744-4e82-bc3e-b291089d0dc2 phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:1d108fda-9103-46cd-b7fc-953b7544301f phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:682b069a-6ade-4ff3-9f34-f9a6a065a68a phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:2e53491c-46cd-4c93-af07-8b6195753b05 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33308271 uuid:0a11b280-14f8-474b-8ce6-0c91fde72102 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33308271 uuid:421e87d5-66fc-4d7e-87cb-15bff2cebeab phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0030211 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33308271 uuid:37b32b4f-e723-4b1c-bac0-473a46d0edc8 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:893351a0-6dec-466a-a778-8aeb1cfac420 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:5830cc99-bbf5-4ad7-ae60-f5ba5e2759f0 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:ae3ee659-64eb-4342-b559-abda028eb9a0 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:5dd89a0d-8396-423f-8b6f-1cfe7a2e84ab phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:7520141a-eab8-4141-b2f5-6f021cbafb85 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:6232cde3-6da8-4fe6-a53d-a9a331fe4fb8 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:9a873072-b513-497d-8674-e1a9e531c43a phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:a7c94ad3-be9b-49ba-994a-2266fe55c5a6 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:33308271 uuid:1fa99ab5-f1f4-4664-aa4b-b66699119555 phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33308271 uuid:7c2f1e21-a3e0-468e-94a6-9894408ca48c phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:b7018d34-6a05-4961-b72d-d21c7434fba8 phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:a16e4b97-afcd-4d2c-bbae-8e8bae72ee8e phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:5ea87876-1ae8-4952-b7a7-a4c58483a69a phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:50eb5c91-112c-4688-aae8-d32160625754 phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:0ffb65d1-bb0c-4863-b76f-038c362c08e6 phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:78678e13-b579-4875-9af2-c2da01354acb phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:67e0708f-344b-4fd8-9c39-afb533ce60e0 phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:82e26fde-0fd5-46be-9311-f650511de54a phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:4bf295fa-7fc7-43e6-90fb-dc9d2f545cb7 phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:9d3228f6-1b3d-44e2-b1e6-a6a5624813c2 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:84de6349-8058-473e-870f-903ec7c09eb0 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:2cfc7b4c-42da-4127-a175-e4872fd0bd20 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:9a085e76-4b29-4676-ad6c-ef077e73272f phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:80f2fb23-784a-4100-ab52-afda4e3e2116 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:d1af61bb-4985-44ea-905f-5cc414386e6c phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:173c3e7f-138b-427b-a74d-5c1063a7d65c phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:1fe489fb-61c0-4fe0-9bfc-0f22c05db841 phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:268d4c00-7ef0-4585-b59f-d4f7a1e5c094 phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:ae89b3df-b112-4c87-b114-8e637a4d8a29 phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:45f306fb-4109-4d5b-9e91-368a9dfd4701 phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:39b16316-4901-430b-80bc-99ab3d10c57e phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:4da8cbf2-6542-4dbf-8efd-969a7baecc67 phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30576320 uuid:084ee593-1702-4501-a09e-395eacb952f4 phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:9f2e78fc-1c23-463d-a76e-54a68d2d2f96 phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:e69b3b36-803c-423b-882f-6ba7436e00da phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29053603 uuid:4f48a3cf-1a3a-44b7-8db4-e99787631536 phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29053603 uuid:936710f1-3093-4afe-8a41-cdf8ad92aa2a phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29053603 uuid:ab9da984-71ec-4730-809b-642b72749782 phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29053603 uuid:96533923-c72b-469c-ab06-5a1fb7d64282 phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:29053603 uuid:f15d25f9-b465-4f16-a5bb-daa0d72ba4e2 phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29053603 uuid:3abd172d-4472-42b8-bfdc-328eaee35411 phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:5cf5a358-e1a6-45a4-bb2e-e5c48ec9fef5 phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:ff645f2c-3aeb-440e-9de0-9be8b49985fb phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:7023161c-bdda-48f2-9f48-15f2dc1c4178 phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:06f4e23e-94bf-4096-9743-cd8120c515cb phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:db390ba7-dc6d-4235-8cc0-a0d646012805 phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:cb36e85d-f8e6-418f-96c4-75b79632b790 phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:cc16a14b-f2b1-43b9-9674-075a61aa62a6 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33308271 uuid:311d594a-f988-468c-8a06-2d896d50b0d0 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33308271 uuid:95565972-7326-4f37-9f85-3ce94b3a8283 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0030211 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:33308271 uuid:7608c81c-5555-4ba8-9b52-7bbe60c1bdf8 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:33308271 uuid:3d3472ab-04af-421f-ad9f-ea33f6f05bfa phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:33308271 uuid:b32512fc-0c67-4f07-98ef-4cb7467218d2 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:33308271 uuid:ed08e4e4-4461-4cbe-85af-69431b6a4693 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:6ef6ef49-c73b-49ab-ba60-0b2a908a2438 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:9ec10d95-0cb6-4b20-b85b-2f394bacf960 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:a930e965-70a9-4ccd-963f-ca9c1c96182c phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:9ddbc310-1e44-48ee-9741-75df5943d274 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:1c299256-05cd-49d2-8ba2-5c436d593e1b phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:33308271 uuid:51a51892-66af-4253-9a1e-5e630cd78dd1 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33308271 uuid:a3f2cfc7-8e10-4c2b-b28b-d4203882837d phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:907da639-73bf-429b-93d5-365b39e4cacc phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:4803f2b7-fa0f-410b-b60e-d455534809e8 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:34722527 uuid:137797b3-e63f-4cc4-9747-6694b829942f phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:34722527 uuid:aba43869-5786-4ce6-a4ab-549c9bb821e0 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:34722527 uuid:5a19184a-aa13-4851-b62a-8b019eec5d7b phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:5a879692-122d-4e58-aed6-c5bd52443528 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:08666e45-26de-4bb5-b2ea-11e62127827d phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:d2832185-1b5e-4426-a16a-5620887681db phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:60b9128b-ae68-441b-b60a-3f5e4e9b4ff5 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:f861c723-3126-4a79-b9f3-b4b8fc2a0a9f phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:3611fad0-48df-4aea-bbeb-e8651f4d9810 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:394df076-d60f-4dc0-b748-5c841f3e9832 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:eda45949-035a-489b-b914-b45606185712 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:4f1f9a28-4c28-440e-b92d-56ac339934f7 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:1dacbd89-f7a6-4900-a21a-42eebe5d98ff phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:dcbd6abc-4862-4bee-a781-e177fd32e0c8 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:ae65a167-0c8f-45ad-8c09-0d573c06076b phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:231d4310-e374-4cc3-98b2-f98b8aea5a52 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29193763 uuid:bbefdc77-385e-46e5-b7d6-e3a163ee4b62 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:1c42e68f-66d3-4ca7-8fe1-a54e47a82942 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:7e69564e-1533-4b04-bf07-69e71efa385b phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0012045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:0630d926-8e65-4173-bfed-19a740ee4a28 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:76acad6f-f2c3-4b0d-8881-02409e090ed1 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:bceab262-9d99-4bca-9769-248d49022977 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0025010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:88129d3c-d3ac-48e7-b3eb-7d0661d458d2 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:763c6ffb-86bd-4a8a-bd2b-f66cf394848b phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29193763 uuid:b67b27d9-94b4-4a6a-97ec-8524d542fe59 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29193763 uuid:fa04d428-4af6-4ebf-a912-746220965696 phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29193763 uuid:7cbf340a-23ff-4081-9f5f-125a5366549f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:34722527 uuid:3d959e6e-60cb-4293-9ddc-35a1ba0f261e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:34722527 uuid:58bfc12b-c61f-451c-8a43-a4a36744cc11 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:34722527 uuid:24146080-bfe5-4204-a438-b19d3f36d448 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:34722527 uuid:1b5a0698-6c94-45e2-814c-27159f8c0b47 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:34722527 uuid:a92f834d-ed19-4949-a0c0-5de833d1dbb1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:34722527 uuid:7590f5ff-869b-4bf4-b942-d4b82c4eca54 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:8441e4d1-7849-4193-b2d9-1d7bdee2a8ba phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:c152a11e-1301-47b0-ae9d-204817f8129c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:bbd7020a-1699-442a-a828-df1753819f31 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:bb0b5898-c65c-49c6-9b6b-00ee981124c4 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:7213c5e5-2f9d-43af-879b-343ae0d5da6b phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:bfd40e4f-d6f3-4ca5-9f05-30b2b5ce5895 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:e84dfcdd-8e94-4655-9d92-a8722eabfc5e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:c116f64d-7066-4c53-acd3-b7937c988222 phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25096270 uuid:ade9ccb5-ca87-4f33-aae3-187d9c983ffc phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:25096270 uuid:121da4eb-9332-4a40-874c-c9094fa0affc phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25096270 uuid:d8bb797d-71a7-4255-83a2-2ebc788e59fd phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25096270 uuid:b6c4fa02-5298-4548-b06a-c3450899a51b phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:25096270 uuid:93781bc2-ae1f-4420-a2f2-e01586a930ff phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25096270 uuid:266a326c-cae8-4e8e-bee2-dbf0b18587bc phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:143cd28e-5f5a-41ae-9794-dd124774d6af phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:cf90599c-78d3-45c8-a0f1-3ab7752a7027 phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:771a8cde-1948-4999-adc1-b752c001c084 phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:dfd3a9a3-627d-4bcc-98f3-d6d9705b9826 phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:695a66e4-0768-4891-922a-2e7dfb785e00 phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:98b32fe9-432b-425c-a852-7b691b6cc341 phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:45e29fa5-32dc-4a60-83d0-3db8bdfd87dd phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:7843db61-2998-4610-bb02-6f8d0770b98a phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:21602930 uuid:0489fe20-103e-437c-8ee2-a9952c1b14e5 phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:2ca0b3d4-e038-4098-b363-407de1c30381 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:8b36a687-fb18-4db4-b8c9-f2262c77eb5c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:34722527 uuid:c6f57166-9551-40e5-9b5f-7b3dc17cf1c5 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:ab0e44f0-3c11-48d2-88ec-6c878ccf7096 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:fcea099c-c78c-42ca-8189-9652d7fc231b phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:59775a81-383f-43e6-91eb-e93dfea20135 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:ee2c419d-e75b-439f-98be-afaf4904a4c8 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:9f646a52-d39b-4a9e-a6aa-08a83788069d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:5d4665f0-49ee-40fe-a563-a5e47734fa7e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:5068105e-98d2-498e-b15c-e5c6af043506 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:2241ace7-d869-4b7c-b0c9-fbc6382ad142 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:b8140aa7-1716-4e3e-b825-36f0843bba5d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:491f4270-0cf0-46e7-abe5-5ba4001b084f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:3d753daa-d35f-42a8-b1f5-7411420e3b77 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:a489aa16-5b6f-4068-914e-09c02400b257 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:277defe8-da90-41c3-8478-138e5a08a7c3 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:de604274-0931-4380-b169-08e74a4a3ce9 phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17306875 uuid:d7d1c07c-e902-4ff6-860d-3be413fce853 phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17306875 uuid:92a2919d-2ed1-4824-99ac-8d78494fb20d phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17306875 uuid:339baf5c-ff72-4c32-a0d7-958dea0a9270 phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17306875 uuid:e33c23d0-07ec-4b54-abdc-fcc9fcbcedec phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17306875 uuid:b1f78722-c593-4190-a881-764a634b3f17 phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17306875 uuid:5b95c1c1-b7fb-49af-8a19-2411047b731c phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17306875 uuid:f1807fa8-ee50-4bf8-bdce-e3ba57df44c7 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:3587d7d7-3eea-4c21-9ca9-93b301183854 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:7efbcdd1-f647-4cf0-a44d-c5e47f5766b0 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28456785 uuid:388bc31e-a9ac-4bd1-a359-5ac699ef3512 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:4e524793-caf9-44fa-aa5d-6bae73648cc1 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:90ba16f6-3f0c-4e20-b45f-3faab275fd0f phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:57ca28c8-d9a6-4804-82c4-1dd479ad95a2 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:28456785 uuid:031e5597-1214-4856-8b68-5a5c97cb2f40 phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28456785 uuid:2a21715d-7ab6-42e0-a21f-482512cb87fe phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:2e52c3f0-ce0e-4536-a1c0-86fa8cc66621 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:92738d9b-2c2d-4d88-ae0f-476c749604fc phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:93993876-d8d5-48c7-9706-230ba9d1ac06 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:d391a81e-ccc7-47b3-b899-c29ea8fd4b60 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:4bec6784-a11d-4726-8397-7809d4c71cb6 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:fd24d4a3-68a9-44b6-8d38-12ab537475cc phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:889e9f59-903e-41c2-9b91-61790c4185db phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:11094a02-5218-44bd-94ef-c72886e5f9c0 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:6063c74f-b2f4-4586-bba9-d127e3d62882 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:140dee61-2d07-44a6-8dc9-27d2f3420fb6 phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:a9090b98-0c3a-4445-a0fa-2e218e78108e phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:c0ee6453-197d-4dca-97e5-990e76962d3e phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:9bfb1d5a-b0c9-4ac3-9e46-77a3a4ccf55c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:705073ba-87c2-4733-816b-49f518c1b269 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:662aa396-86bc-4f06-bcf5-9ff0ae8e66f4 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:0093aaa2-4b5d-4467-bad6-b3c4ddb1d365 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:5bae2b06-0048-4ea8-9b5c-408b3c4d823e phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:be66c051-14fe-4c08-9ee5-917c390793ab phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:2abcd872-5267-4bf5-9d0e-0d1f0d161063 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:898ad026-6c1a-4f0a-aaa1-3397cceedb00 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:dfb5f5e1-bb2c-46d9-921a-9f63db4e63e5 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26047050 uuid:14a37046-50a4-49a9-91ce-86c14fe625e2 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:db5dbb91-711c-4358-99cf-d1dd66488529 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:0b45d1a0-6c92-4084-9bf9-55b27b7a2793 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:a631dfd3-c0b4-448a-b92a-8f3f9cb6f193 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:cd2e8f46-3ae3-441b-9091-e310aa53ff9c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:f373df4d-f2a6-4204-8d2d-20247995af76 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:afb52df1-7701-4e0d-9141-cfaba1f1a1f7 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:fdcabd35-7d0d-4149-b673-ae104b7e2906 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:902c2678-9db7-49dc-b8f5-3ab4bd889694 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:020c1dad-ae26-4d20-ad67-465ffe637c97 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:13e1c758-afaa-4310-b400-bfead12a3f1c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:de192a03-cc47-4e32-972e-a2ac574472e0 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:bfd54a7e-bb04-4cb5-a977-c27663166056 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:11b8fe50-6906-40f6-bb44-fe1d0aebc07a phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26047050 uuid:ec0b0cba-f54c-4ebc-acef-d995f5a1e5e1 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:c958eb46-15b2-4a0e-990c-8ab32df9e893 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:35a921fa-3053-474f-85e9-b6eeb30641e1 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:24ffe91c-e256-4859-a545-7a9cd4ad6e1f phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:ae20a9b1-e84b-499c-8281-6b9acfc63378 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:602e2b94-e630-4d59-9def-d69c7637e523 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:863e7b7d-8a99-4e76-a9ef-f8269816440a phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:93109a72-a06b-4884-b31c-8e0ad373b0f2 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:938c34bb-2d5c-4b11-b74a-27e359c2f228 phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:4bd6139b-b465-4c09-a0a0-2bb6d7344454 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:24bc1445-2f8d-4d84-b1ca-97411839dd99 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:c750af12-31cb-41b6-9270-0b5d8e9ed192 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:93721ba0-da51-4012-8466-f55f5ac5c48e phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:0bc3248b-be1e-4685-8501-3eb8161d56ce phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:8bb83c69-1502-42c7-9b73-60dc846b3940 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:bc70a070-3655-457a-a095-3b1a5161f405 phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:0fee014f-b231-4889-b4f5-c00141fc90df phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:03b45d14-efd6-4198-906a-f4a69e0dde56 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:b23e0751-ae59-4605-b677-fece50c79992 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:f9ff8897-9ffa-459e-b943-8bce1842c76c phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:d809df3c-097f-48df-b820-e697e52f3fb7 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:e1bb3e92-4e7f-4d61-a486-3b2ef07c36c7 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:3cff6cc6-6279-44bd-bffc-a9126d041209 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:21634e48-644d-4630-81ae-0b5479049135 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:32ad5fb9-97e3-47c8-b9e4-0f25841ea000 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:7854f732-4441-4cea-a490-fea6415995e5 phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:6e40a10b-1166-4dd4-871f-9523ce650a50 phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:8be6d858-6d43-497b-b585-668e4629b2d2 phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:bb2b1bd9-8c59-429e-bfd0-5a5a427044be phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:31a888f1-2a8f-4760-8a26-aa235c400ecd phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:1dab70f8-b583-4314-9439-1c77fbd5b190 phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:57f8c440-a93f-42eb-ba7d-c4921fcb999e phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:cff54c7c-701b-483a-857c-9f0ce0f84987 phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:e5e88b59-39c8-4962-9286-9be29302751b phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:363db957-5b66-4910-bac2-852f93c917e3 phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:ecae460e-b4a2-47c7-911b-764856bdd901 phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:53f5b309-3fcb-43e0-9928-9d2c27337548 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:6806ca27-075e-4f34-968b-a258aa024b16 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:bf83f506-1994-43b2-a36d-7e9d548afcd8 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:34722527 uuid:b2ef8213-ff20-482d-80f8-d660195a72c2 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:e8e7dc3a-15d8-445e-8bee-641e000eab7c phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:d4443981-7f93-4d98-9595-c9af44bdb9a5 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:a3863e8b-34b5-4532-a496-463c9ee97831 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:61c33930-27d9-42f6-9a6e-4cac215cb824 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:2e209ed7-5b15-4b00-991e-aabb23d34340 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:d715f20a-2d18-4e7e-8ad4-8c207c85acbe phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:082b8c08-0c42-4e62-b5f4-f070d9667aeb phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:c1fbe5a2-7f52-470b-ae7a-5d32c9a29d78 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:3ab0226c-2a1f-433d-8202-d6de70a35072 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:d0458735-e960-41be-a725-b9cf40a84c35 phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:c1c4e068-9053-4dfe-979f-9fa4dea2596b phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:5cf27f9c-1e80-4938-90d8-f4ba915bf96e phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:feddb07b-e4da-4828-b05c-37b5c3539ed4 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:34722527 uuid:099c7742-41e3-4956-b6a4-6cfe393cf369 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:76071a57-7ddf-4170-8657-a0652d1179e0 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:179dd65f-823d-4f11-9f1c-53014db13112 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:364216cd-5eae-4c28-894c-fda74544989f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:51bfb2c2-91be-480c-8fdf-d311422d2803 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:98ae9c1a-ecd3-45e2-9b45-0a7195fc777e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:fcef352d-cd43-4c3e-ba5e-d90049a36219 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:e505f990-026f-4a9e-a610-ffa3c7efc00a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:abbdbac5-0769-4864-ade8-2a14fa5d747a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:e7d7f8ed-2e0a-4a21-8ef3-28ffc5b5f25b phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:b65e39ee-5a20-453e-b81f-054a6e3d8999 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:d40cab26-4c00-4ea3-8452-5c35ff1556dd phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:c135476f-db98-4b1d-bb3c-fcb55de5ab4c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:067ec3a2-8556-4b39-bd52-5d92e3c76b9c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:750cc95d-d25c-4680-8ea1-35aa1adb1a73 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:26aced7a-f62f-4172-80e4-25e9bc58ddad phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:0e078c26-f94b-43b6-bca8-ac29c578d03c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:dbd1dc08-397a-44b7-b2dd-7488aee27f53 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:d226224b-3f79-4ccb-a658-ceaf85f380e8 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:8cc3bda4-3be6-4685-8a00-00c58daeca28 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:b8700195-cf03-4a0b-8686-97903486749f phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:3e7df6c8-992d-4263-bbf2-b0f7f84c831d phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:2a32c8ce-3436-4c27-a8f7-064cf659e264 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:d88b21f7-d3d9-49a2-9977-1192e00b2713 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:8b779334-59ca-4ea6-950f-c6f6b5adb4ae phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:dde7d358-ead7-49da-b839-80c6c0ddc372 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:d2da7c05-f478-4621-8eb8-f23a38b5f0a9 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:26047050 uuid:9d5d6f9b-9f2c-4743-838e-f61d92bcd536 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:92bdbcd3-f01d-4600-b225-94631679c3d5 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:32de2094-567e-4c23-a103-7f969de02552 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:f1e02d2e-820b-48dd-a1fc-46d945052cc6 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:615c2c53-0564-418b-8563-f075edc062ea phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:a5612726-9ec9-42fc-86cb-533907e626da phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:c150f74f-24e4-49d7-ae5f-72257a17037d phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:7379a4da-da6a-4c6b-b735-31c5ef8abb5c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:0f76e9c0-68c3-47e5-9c7a-5e7e2ebcb9d2 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:82e16758-8553-4b61-81a2-86a5044cacf2 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:3abb05e4-185c-4c1d-8d6d-87756ffc2cd3 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:33024732-779a-403f-8840-78be8ea9b027 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:26047050 uuid:dbeaedeb-aaf5-4457-bd21-94174ccd2828 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:e877f60f-45fe-4c1f-b092-2ee0254759ee phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:c8cf99e2-1924-472f-8284-9554a52b0ef2 phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:82a6cf6e-ad3a-45a7-8905-275f2544411b phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:a35ca1cc-c310-4e7e-8001-77b0c9ac178f phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:6ea99770-6fec-4a94-8c8e-c3423e02d8db phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:7e9b283c-1db9-44e9-a907-4bfe3355776a phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:b4889db3-4c3b-4daa-a0fe-073db6c2c27f phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:18f1edcc-19f0-4992-9135-ce7e217a3878 phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:39af94ba-13b5-4217-bb1d-57af03879872 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:165e2e7e-4e94-4699-9764-73c2fee70cee phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:43737ac5-0da2-4db0-957c-b5c602cc07cd phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:34722527 uuid:1ddaa0f7-f195-479d-bc7f-ac2f00056163 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:13a9d90e-d337-41e2-b222-1c0211e22f5e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:f63997f7-d3ff-40fb-907c-60c80a7f3d6c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:afe07b95-7cf9-443c-85bc-4472e8d95b8e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:a4c0564a-81a5-484d-9cd4-2f5445b3b9bb phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:b242980f-1597-40ca-918e-1cc09848d5bd phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:5de22f11-21dd-4fdd-a206-db699353ffb7 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:70dc5a17-36f7-4a78-aab4-36ecc48101d0 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:e92ca783-6c7a-49da-a789-59303c501700 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:710b08b1-f514-4904-b2d9-c54755e796eb phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:0cabcba9-ad70-43e3-8aeb-324a9fd5331d phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:27bbded0-89fd-41d5-aa4f-e0405c56e52c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:aed02bbd-eb70-41ec-b31e-f285e3a9b91e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:9e753177-9cd4-4958-8a69-d333184af16c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:900f5c96-0ee5-4a0d-a630-1a5c8c3d39a4 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:62cdcd48-7680-43ad-96d7-5310bc325205 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:1a762a5b-5edb-4002-8d62-841c3945a345 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:2a7a6475-411a-4eef-a56c-b4ab0f150365 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:0d08539f-88b2-4a4a-8e0b-6a7a38563868 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:54033abb-d1ea-43b3-b5c9-aec9b587d837 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:2efdbc5b-8c73-457d-bd42-510ebaf189d4 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:11e47907-93b7-467e-a9c9-cdffec649787 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:9e79a7d7-c113-4f2d-b34b-d9cfca2cebb8 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:a4a3461e-490f-4e1a-b43b-d07a5291647c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:1ec35ec9-6e88-41ec-9fa1-01cbe2dd6e39 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:5da18505-02a0-4d0b-a980-83ad2dc7f18c phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P2Y3M infores:phenopacket-store PMID:26047050 uuid:98ffc9c7-24d3-459a-a223-e53374403713 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:6775da45-d4e5-44e2-8fc1-cd4432cf8bb8 phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:21ec668d-f8b6-4e06-9337-eafbdec62f7c phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:d3e7bda4-ffdf-4413-99c3-c61f14d37c33 phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:3376a5f9-5341-4062-ba2f-cdfb62d4af46 phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:cb2633f3-5b03-4927-a45d-1c3ee3f9eeec phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:20e7a65a-81b2-4446-84cf-5ee619c88528 phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:c28acd5b-f1d2-4be6-8117-bbd87784c2dc phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:4e1c040b-55c1-4590-916d-e6be92b5dcb5 phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:ee03d537-4f8a-4f98-b4d4-32fbcec61273 phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:6ec906f7-7b32-45af-9e26-6a50884bbc7c phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:17c1fcb2-1ad4-4b06-acdd-4012749da5ce phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:b724e8c0-9ea5-49ac-b7b1-27925612021c phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:3ff7bfb9-f79c-4cbc-a366-71c617b638b3 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:d41f02fe-f26d-41a6-a9dc-adbec1176171 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:07bcc40b-7363-489d-94e9-95a8e6b7d3fe phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:f7f99588-1054-4042-a52e-73161a784fb6 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:26a4a700-c2ac-490e-b87d-d10269696dae phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:ba40a040-b54b-4241-b9fe-4420a864bfd0 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:c5f651a8-26c7-4810-aeec-4a4b438510ef phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:84b204e3-173e-433a-b49f-f67ec39a1cea phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:49680724-83a4-4b20-b067-413271190b82 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:d5bbc8ae-139f-4d75-a495-84fd52b96690 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:e759cc06-6b2c-49a1-8d2a-3466b3f56fe6 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:31666973 uuid:07728023-9caf-4c94-8c67-b0f6ff9cd6e4 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31666973 uuid:40264066-14c9-44b3-b7a9-7665722eab65 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:95ad597e-502c-43e6-9ad8-5e9ace8336e7 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0000608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:019ae379-2cfe-40a9-85b5-37c999021665 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:782169b8-a8bd-4ea8-b49f-d4578d4f25ed phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:39b01c86-d9cb-47aa-8c76-e4a40d697193 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:dbc17690-c1b8-4d5a-91e3-64ea8e50b8a6 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:2b3ffcf7-4596-4bc0-a055-f2d68cb83b85 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_phenotype HP:0031605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:4e073a2b-cdc6-41b2-a62d-5d69aa41419c phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:89e26376-eb69-4b2f-880e-5eb4ae675b82 phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:582f1f82-42b1-4a84-a89c-2c716bf0157d phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24066033 uuid:18da06f7-c85d-4524-b37f-e8f6544ed11a phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24066033 uuid:b2248109-d98e-4b32-bcf2-04fb3c04fd5f phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24066033 uuid:2f76fa2b-83b3-4520-9cb2-629ef6177c1a phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0007720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24066033 uuid:0398d997-27ee-4410-8a97-6e27128907ce phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24066033 uuid:7a9272e1-65eb-46de-b6d1-bee76bf1cf67 phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24066033 uuid:20c40d6a-df7c-48a8-884c-ec6eb7d30c5e phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24066033 uuid:ade71cc7-6a54-4b99-b6f6-3df0067dd24c phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24066033 uuid:210efff7-3002-430e-b59a-d7eb129bab8a phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24066033 uuid:dbfc4918-012e-44a7-b306-08b3a4e09b97 phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24066033 uuid:79db59be-4765-4f37-80dc-0e0681b6c951 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:34722527 uuid:bd278fe2-f609-4980-9fd0-85c526cb26dd phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:7a9805ed-8796-49f2-8e39-bb285e3a03e1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:ab190cff-7692-4536-9d35-a65d371e18fa phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:578dc1e0-a55e-4275-9990-024c7e32b942 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:050bfa65-ec99-4a06-bfc9-05521018328c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:05e6b88e-8fdd-401c-bf68-b51e8c35249c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:df982b4a-b7f2-45ab-902a-3257a004d88a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:f831c12a-7cf4-4acd-b769-46358a08eaf8 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:19257fca-b232-4460-8239-035b13370084 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:56afcfee-78cf-4bb7-be74-7534cbffbd06 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:2cb4aa17-f8ce-49aa-abc0-121ecc4d0104 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:104a037f-fb24-4354-ad88-5681e27b19ea phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:34722527 uuid:23f4ff18-97c6-47da-83dd-5fd127efa14b phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:a4bea3f5-412a-40eb-b241-f32dc47658ee phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:2da5ee94-f0f5-4f82-afb1-240af8be22cf phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0030553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:86e25e7a-8614-41ac-875c-9e448ae655a5 phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:fa11fdc8-e51e-4dfd-aefc-cd6784feda76 phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:f15bf80d-b261-46a7-82c5-f4c2c94f075f phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:18eae0b2-5c66-496f-9cc6-8110df3791a9 phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:8d2c1f94-a1df-414c-88a0-575f29397fb5 phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:666bb9d6-4925-47df-85d2-1bf8cef94db8 phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:838a0fab-ee7c-4e5a-a1b2-f50cddfaa39e phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:554cea87-a268-4c48-b198-9a637cf3e796 phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:57480156-5006-46bb-9b9f-80a976eab04e phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:765b4db2-e273-44ed-a337-b18dbf87e877 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:a208359e-aa8f-4bfe-9ed7-957eedee4ac8 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:acde0007-b702-42d4-b856-ff7ef3fd7fcb phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:2334c259-62c7-446e-b73e-74cc6034e124 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:0c05f814-8459-4eb9-a9d5-6b4f7f5988c4 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:c9578e6f-8a1e-4e37-a4d6-61a2f6066465 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:795df70d-dcfa-48f8-b72a-0ae8a5a28293 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:1b1b39d4-1aa8-4d40-be3c-d93ef5c1b56e phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:3c9addf7-b85a-4eff-b40b-7123d7bb9acf phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:90ab21b0-6620-430c-ba9a-9b81ed767ea1 phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:dbd16fe0-a3d3-4f19-8d12-7aa1d84f62dd phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:5a1aa5bf-d367-4dd5-9535-05266f7fa43b phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:33308271 uuid:0dda9dfb-6bbe-4ff2-afdf-6a1aaa41a8c0 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:33308271 uuid:b22f7e61-658e-4f50-8da9-c75d6d11e7a8 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0030211 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:33308271 uuid:00c2f282-2521-4bfd-8645-1bd7fa432614 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:33308271 uuid:6e710a9e-581a-4276-891e-87f31c5d0bfa phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0030329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:33308271 uuid:ba4999c6-d79b-4c61-872e-21dd0ea33bf5 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:362e6ad6-dc06-4f96-a128-c0f392a2d9d5 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:3fdd4e77-441e-4d22-90de-94ae376df296 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33308271 uuid:928420d7-49b1-429f-957b-3661562c31e4 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:f0f7564e-ea52-45b5-a09e-4232ea1fb2a4 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:35a72f33-2edd-4d29-8483-5f7d7f40e82d phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33308271 uuid:58b374ec-24ae-4e56-9ec1-526a30db2283 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:33308271 uuid:0c9ba77b-5371-4597-b82f-472707e36309 phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33308271 uuid:bc4c2988-76e9-4984-81fb-fbccb974b64b phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28453600 uuid:4eb0c44a-5bac-47dc-966c-dde4ab6f7bb1 phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28453600 uuid:9786d4fa-47f2-4bb7-9667-af95080973ee phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28453600 uuid:cac6a80a-f0ff-433b-9699-cf0f6459e7dc phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28453600 uuid:b179ecdb-efe9-4de8-804f-03c54cfebf7d phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28453600 uuid:97399758-1998-40ea-8c55-dc665eca1732 phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28453600 uuid:e0b1bbf7-2d95-4074-a8fe-3141b3f3677f phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28453600 uuid:0f0b5368-c9e5-48f1-a884-aa2e6a301150 phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28453600 uuid:fd118703-11dd-417f-ae7e-b476833200b4 phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28453600 uuid:d75ad758-0b24-4088-ab5f-ae00c49d9670 phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:d8178566-73df-4555-a6e2-1b0eb8417d4f phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:0804a9ae-ed59-436d-8f79-a8dbb75ea22b phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:edb140aa-b569-4c42-b3a1-8b36983d9803 phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:4f9104d2-88a6-4be9-b006-2e6cfa47c0e4 phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:735d1bce-6ab1-4f92-ae41-253e585951b7 phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:9c003752-8623-4719-b87b-2def6d141d25 phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:dad34278-07fe-47f6-9933-edc74be64420 phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:ffb119e6-aa5b-4847-90eb-addd01e84de9 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:1ba5906d-1bc0-4f3e-9757-a73cc714aed3 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:04f4f703-adc6-4727-bb71-8c9a80d966ea phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:d7a5a4a7-92f4-4591-8b87-e955b281e151 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:907fb985-304a-4683-b0bf-a0bbf814810e phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:26cda4b5-2596-4228-b2e8-4b1db3b43427 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:34f33594-bcad-44e4-aa92-b2a9d8824628 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:21b81a24-f0e3-46f1-a725-9580c4572d9b phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:9d5e634a-4f0e-4009-ae06-6234c68bbde3 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:459b5910-8b2c-4b7d-8501-032c362f9cab phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:103046cf-5a39-4715-8454-19b47987a201 phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:196cdbce-1e3f-46c9-a407-6132d4a8e8a5 phenopacket.store:RPGRIP1.PMID_25096270_Case_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25096270 uuid:6967ad31-0484-471a-b11a-d41a45a5f49d phenopacket.store:RPGRIP1.PMID_25096270_Case_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:25096270 uuid:fcaa7a77-32fe-4e54-9d6d-1705125644f7 phenopacket.store:RPGRIP1.PMID_25096270_Case_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:25096270 uuid:531f18ae-ac12-43d1-8efe-8fdfa0649937 phenopacket.store:RPGRIP1.PMID_25096270_Case_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25096270 uuid:4a82b37e-01d5-48cf-8080-c634d7ef41f9 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:56c95caa-cc5f-4728-914a-d6d7627cabb4 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:2446385c-1c60-4f57-affd-83dd879e6caa phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:19baf07e-5d93-4688-96e1-6a3d18754354 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:e7463d90-0eba-4e71-bca9-4f4cf329e329 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:fbbea175-3f59-46e0-935c-4dc5bc3d4895 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0004327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:a2315785-e7d0-45ef-8beb-3ddd84d2825b phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26047050 uuid:98a036cb-03a6-4bd4-93d4-a4d51151a059 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:5eb4cd5c-ac14-46e8-bb12-4ded3eba1e65 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26047050 uuid:f438e317-588a-43b0-8907-8e00504be189 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P2Y9M infores:phenopacket-store PMID:26047050 uuid:b5420253-9421-42bd-9568-bb53544a31e1 phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26047050 uuid:1d0955bf-c3f5-4ec5-9027-d3f2ff444b2d phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:e6105bd8-a1b3-4ca4-bca9-f5a99c8daf02 phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:8e0d5e59-0888-4c12-9135-b090901b4476 phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:fc035ae4-ed31-4c30-9535-a1fe1101d742 phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:4c61db70-9c93-4706-b0ce-daa643c388b4 phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:ef7f2b48-9ca1-4806-924d-2cf7df84f84f phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:ea70cab8-2859-4f3f-ab51-21ebbcced170 phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:10c83de3-7bcb-4079-b776-a173dff03ac7 phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:b80bda6c-5e2f-411c-9843-4560d019269a phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:329b0d8d-4f3e-4200-86ac-8d12d61c2e49 phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:ea89484d-34d6-488a-bfaa-1fcec1d42732 phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:93215f3e-3528-47c7-947e-9faef933cad5 phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:6ef6835e-a941-4977-9bb8-30cbb5fa7992 phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:4f5ae1e6-0778-4a61-ab7b-b16325a1d485 phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24997176 uuid:13a6d0d8-6a58-4891-bfb3-0e8d1375128e phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:993ce665-2cd2-4a0d-9701-b955727ef677 phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:1d21354d-5aa8-4a7c-bb3d-759b516aaa03 phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:39c1e658-ac3c-4ca1-aa35-1320e24718ab phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:5e0ba067-c891-4f8f-a614-d9dbd45d4cbd phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:b73cb496-f370-468d-86eb-9215242a6430 phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:bdbc7b00-fa95-4190-a82f-b52e480127a3 phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:fb630b93-db13-4dde-b4ef-1bce4abdb361 phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0030825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21602930 uuid:1e307a0a-1a67-4f26-9ad2-6faa875cb961 phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:b1e9e4ca-6c0f-4b3f-8342-008226bcd95d phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21602930 uuid:abacc8e3-caad-426e-b114-8bdaf1270f44 phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:112540d8-6b56-4a92-afea-3a75d3f9dc4a phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21602930 uuid:391f8340-a0ce-4208-af4a-12b12a0f69b7 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:3c359850-cc97-41f9-afeb-e90ae127f7cd phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:22e15708-3336-41d7-b0ac-2364daa66ba1 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:dd0beb91-6e4b-42ce-89d7-60af39bf3663 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:74c407af-33aa-4dbb-aae7-4fe00d5c3f77 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:c78b4c5e-52da-4951-bd42-4e5a25fd441b phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:95fa142e-0e8d-469a-893f-35d6592b1b34 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:45af35c4-bf7c-4bea-b0a4-ecfae619987d phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:ea206c7b-dcf8-429e-8de1-d098f591e7d9 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:e288783a-2936-4eb6-97f7-f6e295fc6f92 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:95b571d7-7cd9-40c7-bb6f-290681f89014 phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:e721115b-c8df-4425-a0c0-6bce27f6783d phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:8bc442c3-54a5-4172-9a43-128239e5dfc9 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:3ed11a03-7745-4432-94d5-0e67495f3575 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:94de522d-fefe-4227-9a9d-663fca01b2b9 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:9f1c5104-b5bb-4c41-8ddd-ee1ae8ffc0dd phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:0543c0a3-beaf-4358-a1d7-4eace6d68a6a phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:885ea1fd-57fb-46cf-896a-374004a46513 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:99d0ba7d-9152-43d3-88c8-abb481376515 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:dfbb34b9-1ae7-4b25-b8f1-649ae00458b1 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:b50075ac-19c9-4ee6-834c-37d1083ef535 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:4362a240-4563-4a89-94b0-f402f584bc08 phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:0da1becd-ed92-4e3c-8864-88306dc7e26c phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:5e941ff3-8258-40aa-a0a8-4d000a9d108e phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:02fad80f-d4d7-489b-9401-186d564aaafc phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:fe7c9c36-746d-422b-b07f-8259f9db7898 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:3a93ef4b-27c5-4573-8ff1-2e77e946da52 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:2a734b1f-4521-4cff-9cc4-1ccf7dc4fafa phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:d19dacb3-635c-4dda-8be0-186030f7fa51 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:2441c3f3-4382-4799-980b-2d4829d0a410 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:1ee32bb7-d4e3-47e7-a526-57cbe7838f16 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:73192fea-4e7e-4705-ad8d-76e9a239c371 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:880f6037-43d7-4843-98f9-c63b61db8ade phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:828996d7-7cf5-4310-8608-52033e59c1a4 phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:a918949d-b205-4d66-8e7f-9c5a156cbc2b phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:d2e948bf-7d86-4f78-be9b-b05aa39987e6 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:f951d0f3-fd65-42e2-acee-73c4e6d83ab8 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:28456785 uuid:b56aec5f-c7d3-409c-9d37-4334d3bed74b phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:28456785 uuid:2ce9d108-58f8-4b44-8e35-da22c50bfd58 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:28456785 uuid:6cd697bd-0396-4662-bc2a-319d6a782b51 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:150e7d59-122a-42fe-ad9f-0cb91a28ab88 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:f292c1f3-c221-4b1e-b7a9-64fbd05fa799 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:88e9c541-b954-4055-8f6a-bfa887b66005 phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28456785 uuid:8a9456ce-248d-4a12-867a-2fc9de43b40e phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28456785 uuid:d295141f-8b9e-4ef3-aab6-5e6991e89519 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_phenotype HP:0008043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:28456785 uuid:9904353f-d2d8-4076-9a1a-0a25b53e1594 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:d7807e76-b698-4660-9908-1bd587cb4044 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:36bc4044-61b2-45be-b4cc-ab59ad06cd21 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28456785 uuid:22ce1c9f-698f-459b-bd0e-1b5ac2766432 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28456785 uuid:b99add81-6a3b-4466-b7e7-c1318430f198 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28456785 uuid:80295110-8981-4350-8b36-b07548fd0534 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28456785 uuid:610611fc-4731-4a18-a6ec-d99087749f61 phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28456785 uuid:f8554019-8e2b-4248-ad1b-6943708832af phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:7b9ddc8e-9437-4149-b85d-e859e5a6df7a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:34722527 uuid:51a40fdf-57c0-4773-ab08-2cf5a20232c4 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:34722527 uuid:32934631-cece-403b-a9d0-8619a6e57d21 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:34722527 uuid:6e5db5b3-9961-4be2-aa06-4045e901f6dd phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:34722527 uuid:9cc48606-5fce-4503-8861-191069444aa8 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:34722527 uuid:335d8277-fab5-48dc-baf5-58a216e5fbfe phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:34722527 uuid:59de26ab-74ed-4416-ac12-7cabe8c045a6 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:34722527 uuid:068af0c3-d39c-4862-87d1-428f1dcaaed1 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:e640e561-47e8-4db2-9b83-dbdb6b2e0702 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:1ac2caf0-9077-4eca-b0db-97cf13393a43 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:5f918292-65da-4f22-979f-037b71111e8f phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:95e4daac-b736-455b-be8d-d442a7706150 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:f57271ec-135c-48b0-88b1-d9178109e7ee phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:e48687d2-136a-4dca-9e04-9a776318bfaa phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:39ceda53-8056-4a2a-95e2-7273cd2c7c3a phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:2c1fb2f4-30ae-4433-9f74-9aebff6216af phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:5ce746ae-6e3a-420e-8d28-e9c66b1b8e39 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:e2371dbc-25c1-4212-9e64-04b562687dd6 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:de04624f-8fb5-4d2c-9396-5f9a88a694d9 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:33f78851-9208-42a6-a52e-e5abd35829e1 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:014f4094-e55e-4083-a44f-f542d3f95d8a phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:5cf4326b-ed68-43ee-b33c-e22d7e144930 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27422788 uuid:bbb724b4-c3e0-47eb-8697-958a83cb2879 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:92820078-3f5e-4659-8910-9e3d320ce7df phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:23715935-aa5d-4fcc-a968-70755904fe03 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27422788 uuid:28b2db30-5d98-4b29-b9a0-eacd200e3a93 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:807eec7b-c8a3-40b3-b596-70d8998d6ba2 phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27422788 uuid:449ee85e-ac48-4030-ac4f-ee372414ae8f phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:57d093fc-ecad-49d4-9f41-efefb27f9a37 phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:2e7d5143-c8b5-4e41-bc1d-234484237b33 phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:05736943-d4da-4d49-bffa-0ecd96f22abb phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:ff21526b-34e0-45b2-bdcb-5dff2ec0a0d1 phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:23661368 uuid:d2887b25-1088-447a-a2a5-06ebd0d61e95 phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23661368 uuid:ae229081-ac84-477d-9afe-6a63796c884f phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:9a137b8c-d1eb-4796-ba91-7f78f20c1f70 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:fe5014fa-070a-470f-b2dd-88ed131d0494 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:35306ba1-6732-49cf-b140-6613ff3ca427 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:11654e7a-f744-44df-8f77-a8dcacba401c phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:5827c8cf-e5f2-4baf-84f0-987279cfafe0 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:3f6be317-7f25-4af5-8f5b-8e536a4c4e51 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:d1df3f0b-19bf-43f0-a1f0-bd2c4939653a phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:0e890a1b-8d6a-4bbd-ac4c-5a1fb30de530 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:4208795b-d922-4753-a32d-bdd77e99eca3 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:0463896e-9e27-4d2b-a553-b8e30e641ca4 phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:5e4ba00d-3076-4903-a7b5-2e6975837404 phenopacket.store:RPGRIP1.PMID_34722527_Individual_MOL0600_1 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:d4b842b8-98ea-441e-9e0b-141c149f74af phenopacket.store:RPGRIP1.PMID_34722527_Individual_MOL0600_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:8f00fb07-28a6-4443-a6fd-477f77873412 phenopacket.store:RPGRIP1.PMID_34722527_Individual_MOL0600_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:ba29e7b3-293d-4037-94e0-982eccc72572 phenopacket.store:RPGRIP1.PMID_34722527_Individual_MOL0600_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:bed36b9e-d33c-48b9-bfd9-270b9492ddf3 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:1b6852d3-bad2-4cfe-ab3f-20d6f7c4e2c5 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:32736544 uuid:a189b648-2e07-485d-96fb-71bdf9b07c02 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:fea88094-0a78-4bb4-824a-3aef3f70b387 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:008782c9-111b-4d53-b617-dbf667d385d1 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:eea62ee6-d99c-4aea-b3c6-e9f53390bdfa phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32736544 uuid:bf09f61b-b63a-46e6-aa15-8968a1845c77 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32736544 uuid:41975a58-7a60-4b73-95cd-380175b2b858 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32736544 uuid:272eda0d-4f67-4374-9646-0561f44c53e0 phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32736544 uuid:5e798e8e-994e-4f3e-ad0c-ec8c42c333ad phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32736544 uuid:d0a0f0ed-01d6-4581-8417-7435ad89e58b phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:d022e94c-d7ac-47a9-988c-6788383989db phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:58e02ceb-21d2-4bac-8e7d-80a61258e3a4 phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:871bfb82-b291-40fe-be47-99e808f1688c phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:2838fb7f-aef5-4eae-92e8-360812cf211e phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:17566819-b9a2-4e58-aec4-d3e7630d1743 phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32736544 uuid:b43b2b49-dcfd-42f2-a902-9bd19a9d956a phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32736544 uuid:09c08947-8b08-47b8-ae35-b79726f51098 phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32736544 uuid:85f0b80d-66fc-4a06-bbdb-ca2b314367a6 phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32736544 uuid:c4dc3499-95bb-42e9-9962-a6243f4d9cab phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32736544 uuid:0763615c-6c9e-4ed0-b30c-d6b2e5bde92a phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:6608575f-e726-4ab6-bcb5-258ea928fd3a phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:d2e7a9e3-c8b9-4b79-ad0d-fd07f06bf5e7 phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23661368 uuid:e00aa356-2f17-4e3c-a9d5-bfd97130960f phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23661368 uuid:99e0d8ea-18a2-440d-b74c-fec01f2e97a3 phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23661368 uuid:d59a7e71-9f43-4b1e-ae05-f5c805a02e3d phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23661368 uuid:1e286e93-f7d9-431d-9b87-007f1bbec432 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:9d0a7993-affb-45fc-8541-de2200a59522 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0000608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:52c4c846-9a54-49b1-9b31-883f0eda11f6 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:48a7e034-1a16-4fa0-853b-867a71397279 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:3a9e82db-2319-4673-8762-71fa62cf6793 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:2876c41f-2420-4b0c-904e-babb26264fd5 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:a41df83f-d42f-482b-9cba-fed0f78bb10b phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_phenotype HP:0031605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:d25f46e0-001f-4287-b95c-b7108f2b1330 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:12920066 uuid:83c2ac21-3b23-4570-b0b6-6d271c700704 phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:6e4fd1ea-4bf6-4900-9f31-4f07c01b613f phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0000662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:7f1a2910-590b-42c8-a867-5aceadfb2892 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:b92cca1d-e32a-49c9-af85-b37334242761 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:cf36d097-63a7-4b64-9bfc-4dea5425a51d phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:b9742208-4744-4a9e-af99-0d26dd7f0a7e phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0001133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:f6ba3129-0d06-4580-b167-de5c41eed4bd phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0000533 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31666973 uuid:b3ba0f20-60d8-4419-b956-5cee62e861d2 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:6742edcf-f5ad-4360-aefe-9f355f041bc1 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:2f98c860-13a4-4895-988b-e31ea015f902 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:fee28357-b182-4e08-9334-ecf666cdbd77 phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:456f070c-445c-44f2-9e40-c1730c34bf8f phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31666973 uuid:17faaec5-d4e3-4a92-8752-30279677fcaa phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:31666973 uuid:9c0106c8-26ed-4651-9775-5ba182b1448c phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31666973 uuid:38baf78b-d6ec-4693-a522-33bc09bbfbb6 phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:51d0a53d-1453-439c-95f8-35bdb47ded50 phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0000608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:1a6ba60d-8d46-421b-8ae2-c8f85fa98fbe phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:44b9b87a-72e5-4cf6-9a90-2eb2e9c5e231 phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:1246a193-8762-4102-bc42-bf0535af3a6b phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:61069c92-8b6f-4238-9013-2c8dc4049401 phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:7af8eb03-aac5-4d68-9741-e209a4b3d0db phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_phenotype HP:0031605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:7945ab2d-aaa4-4845-8841-17a9075c2f3a phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:5739c67c-d153-469f-846b-b1d7e958939f phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:c2c05f09-b703-4c0e-b5c8-0947f7fa41d4 phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:f379df3a-eef0-48bb-bc51-853588e1541b phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:80c679f9-2d83-4d3b-9805-7564a664f7ac phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:af6c387b-b37e-42c7-8f55-20b59f3e18b3 phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30576320 uuid:ff176618-7dbb-42f7-b82f-fd49a5f985d4 phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:30576320 uuid:a8d27077-e6c3-4d7b-80a1-f7b7944ac0ec phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30576320 uuid:71d57e9d-8198-48e0-ae2b-f26a0bbddf7b phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:c3ce3d19-8823-4a70-b21e-04cd9278dc1d phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:80ba9cbe-e60e-4a99-bc69-799e3c9b53ea phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:720ac3a4-c939-44af-84a8-76ff4dff31d7 phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:5f06eab8-088f-476a-82d6-addcec1b910c phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:863c599a-6874-4ed1-b331-758006ed8620 phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:cfd3ce49-6d38-48ec-bd61-ff6bb06eb862 phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:bb2d61d4-0b2e-4717-9e24-b27136f6eb8c phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:365b1adb-ef83-40db-b50f-a2c06b137678 phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:f06bbcd0-c7b2-43a8-98a3-1f86b2371480 phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:6d3cbf4b-cb47-4398-8c7d-3d9f7e4b170d phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:cbb7944b-c31c-44b1-a165-0f2dfb850b33 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0000529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:57dbccaa-4c7f-4cb8-a566-57eff11f06e2 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0000608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:3fafbc2f-2ba1-453e-b1b5-77fabfbd6c2b phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:7fe57dc8-00ef-404a-b175-34ca3f0e51fa phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:e3dba303-9a60-42f6-99ee-101b16c52ea4 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:6e76d38e-3679-4a38-be37-d889eaecadc1 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:3394eec7-64a9-4175-a6e6-8193f0935eb7 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_phenotype HP:0031605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12920066 uuid:4f7b1560-9b49-4b13-ba7c-d39c467e4ec6 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:ae013607-ce6d-4711-85c0-c36d967e92c7 phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12920066 uuid:da62e69e-528a-49d0-886b-dff035c7405e phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0030515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:34722527 uuid:19e6318c-0fff-41c6-9a05-1622b3cf0678 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:cb01fb9f-65f0-4820-afb4-3e75d7f73727 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:c3a4dd8b-9afa-4667-a0a6-21697581c1a3 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:c9b1e35f-d798-49db-8be2-59993a401564 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:71b07a99-28b6-4df0-9c28-75c8e6971262 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34722527 uuid:f351fa8f-9869-45dd-af5e-1b132506d0d9 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:a50b0e18-fc19-4b80-9468-ff7dcee4ab00 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0032037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:eb54c1a7-e713-4a66-aa71-ff279d13c420 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:e1fad5a0-6a8d-490c-8d5d-42f29422913c phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:35a2365e-b0ce-4c64-94ea-30f6f71424a6 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:7b9ebde2-857f-4a16-b4fb-29d5e01722fe phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:61508542-e51e-44f2-9484-06691c4f3601 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_phenotype HP:0011505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34722527 uuid:fb340049-8486-4af8-ac2d-a9c7deb128e7 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_disease OMIM:608194 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:04211f42-5c1b-4813-85c8-9fde21573fd0 phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34722527 uuid:970fa7ea-7efd-46d6-ac3e-61a3b639ed3b phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:1bccf88e-4bb3-405c-96f2-4b6ef41aaa1e phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:eb4529c7-bde5-48d8-b830-ac0016a1d6a5 phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_phenotype HP:0032122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:8ac05b3a-19da-4c6e-8676-0c23d6e13a6b phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:d75bab12-c8f1-455c-9c19-66496b1b368f phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:87636c59-6963-45c4-b75a-1a3715fcf6d9 phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24997176 uuid:e171139a-5b8f-43bb-a129-7bd84f9cb587 phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:8e4c09db-6ad6-489e-9ce6-170fd59a782f phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24997176 uuid:e1a67b6a-bc0e-4436-9a71-af74f7b6f0ed phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:b525ffbf-31f0-424b-8190-8d9a3d00e97a phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:8e72a1bf-4b29-4836-8b00-bdb52b9851a5 phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:3280c08a-53c1-4c69-a30c-4af91e849e3b phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:4f382b1b-3e48-4fdb-b4fc-df39ea1c256c phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:66335070-8f62-4394-acc3-59a843c9c528 phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:21749c47-1046-4f4d-a2f8-0c3b6cf5a08a phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:96e642b6-94e0-4e5f-8367-f803387061fd phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:d53b5727-e1f0-497c-a684-54d1283791b1 phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:2902dfc0-cd18-4eae-93d6-4d447381a9af phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:339ad301-bc36-45ad-b591-a9a11d183e68 phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:28e891ca-7a93-44e8-bd9e-179308473f47 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:51178594-baef-477a-9f73-eacdce900445 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:5f702d1c-6c74-4df4-9807-830eb6971d12 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0000551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:b84071e1-c798-4bb0-85da-e0a769695268 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30072743 uuid:17fad966-52be-4cf5-8f4e-c8da85beba35 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:4ddc3bbe-c59c-4d44-a887-99d1019c733c phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0030672 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:93838b92-402a-40c1-a23a-9dca0acab897 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0007787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:b3ba13c6-18e3-469b-96ae-c86c0b535951 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0200070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:dc12bc42-429f-46ef-9ef6-d21ec13392d3 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_phenotype HP:0011504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30072743 uuid:6972b88c-dca3-4586-91f9-f6f479217047 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:f855f034-a490-4ba8-b82e-e52523f416c8 phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30072743 uuid:e23a49bd-6b2a-4918-b8f7-a9bbcff7dac8 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:01591f3b-38ec-4ab7-865e-3183e6839f71 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:c56e4b8e-641f-42fa-ae89-5ea95f22ea93 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:4c84860b-e79b-4e0c-8b09-9b934872e84b phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0007843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:a2319271-fb1c-442d-ab70-05942c7b9ab3 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:c504666c-474a-4b54-8518-cc2df64ec33a phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23505306 uuid:9f04b732-7fab-44d9-8299-102f3aad4b18 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:f672f250-a68c-4fae-8119-8526ca73190c phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0007814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:b171d0ae-80bb-47b3-b7cd-78d5ab2b77b7 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0007737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:158d2f4b-2098-4b4d-96aa-5cbbf0be45a1 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_phenotype HP:0001483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23505306 uuid:2e388e84-c07b-497a-9f59-8e2c8aa793b5 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_disease OMIM:613826 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:0c52d9e3-65fc-43f1-8b35-33d2fdd03dc0 phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:has_gene HGNC:13436 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23505306 uuid:e8101cf8-98fb-4be4-bb82-366d308c7e19 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:f3a95276-9ddf-4cba-b164-286c6be00492 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:ca327037-8137-4171-9067-85c177580043 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:91d2fe37-f2f5-404b-a8ef-07bd9ed9aed0 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:34487897-c2d2-400f-b5bb-e24ff85b0db7 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:7a8c342d-7c43-4732-a2a4-5e7940017cbc phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:8bc0079b-1d91-4dc1-b179-9ba2a2f99a6a phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:579d23bc-daf6-498f-91e8-500feaea7f22 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:8b32013e-92d0-465f-bb86-1a6a29c61e0a phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:53adb47d-04d6-45ca-a57d-9f6246eec580 phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:41bd61c1-773a-49ea-8c36-37c4defdbb0e phenopacket.store:RPS19.PMID_35923690_50–5 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:67b077d0-3ee8-42d2-926f-1922336fabe5 phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:8fe5402e-a1d3-48ae-a708-35d9ad66a3d7 phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:2a50bcb0-12af-442a-83bf-107d3c20be3f phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:462f9f7f-1ab8-4af7-b817-6f2aa5fcc7d7 phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:eb387240-8fba-4f3f-89ed-66a4b1facb6a phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:1b09f55d-c831-4cbf-b1de-84092eb3656d phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:4b715f83-fb1a-4b07-b37a-faebbdea5b8b phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:c4cbf9e3-62ba-438d-9e1d-c631b7e7d8ba phenopacket.store:RPS19.PMID_35923690_50–10 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:06bf8010-80da-4377-97c4-e8ce0d45aaf9 phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:26cd33a8-4ea6-4e27-b1e4-01ffbd859c6b phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:2b1ce5cb-04f6-4c51-82d3-6985df7f58cf phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:9825700b-e6cd-4460-a8ba-ab95090b5694 phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:21ac895b-c8f6-4d19-891a-1987b8318c1a phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:6983c6b9-88db-4ed4-a3b6-398a762ebe1c phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:09da7543-58c4-4f62-8ae9-6bc14eba6cb8 phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:eec64d2c-b42c-4654-903b-b9d979b63197 phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:e4a07eb8-9e0d-4cf5-bb79-0aeeb559ddbf phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:fb45ca1a-de59-4da0-84b0-9b775756a2da phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:b3761fd6-2a84-4126-bc1f-0d15226d3fe3 phenopacket.store:RPS19.PMID_35923690_50–2 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:a7eeaf61-32db-45f7-adf0-00c9b58209c2 phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:b8c63e28-e007-4b88-a2f9-cb02387bbbd8 phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:f438b09b-8dce-40bc-8cb4-160fda4c8b2d phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:96eeb9ff-2a88-4cab-a651-ffd83e5bf8f9 phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:d1cf9230-287b-4a19-96e2-456aa481a23a phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:54ad535f-7aa3-4dfa-ad91-1c4a557fa9ce phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:d61d5b13-3832-4e63-8696-6a00442f09bf phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:bd477985-6e0c-449a-81bc-9217b424ec4c phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:dff5c9a1-d860-4099-9b8b-7e8f0a6a0772 phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:cc7f0229-91a6-449f-bbff-a1367e6e8654 phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:b40ce919-d402-4e89-94f6-8c658dcd0718 phenopacket.store:RPS19.PMID_35923690_50–4 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:f5dd3b80-e076-445e-b6f7-342cd51b6c09 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:c5ccecff-0f67-4ec8-8c5c-f7583ae75189 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:4281eb2b-a664-45a0-a5e0-25f1ea4036f6 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:d40ad3f9-ad5a-4355-95fe-87b23c82cb43 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:51636c86-b366-48e7-9ab2-9d7e8d6df453 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:4457f371-13e0-42cd-a056-5a7efac6f46d phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:df35c783-c2a8-4390-ae54-5efc1d350311 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:f076c4b6-f77f-4cad-94bf-5e2947b2d417 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:57e21681-5dcc-4fb5-be09-958bbdcd38bb phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:3bcf7dd9-3e29-47e0-87cb-3c929c568c4b phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:35923690 uuid:7db1f079-6c5d-4635-8514-33a4b7f1d236 phenopacket.store:RPS19.PMID_35923690_50–8 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:1c0ea51a-9bd9-46ac-82d1-06f5dd5db856 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:35923690 uuid:ea818642-d396-41bf-a323-25704e4ac02f phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:35923690 uuid:f19e8a86-4b9e-4cb3-ac3b-5f177ef06e0b phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:5511bf8d-c538-4c6f-b1ee-b82256a67243 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:b75d80ff-84e2-492a-81cd-9da7a3794555 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:52fc5434-3182-4c87-b84b-1d7fe536e533 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:fd39f8f4-977d-4756-a4ff-6d2959086af6 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:6d58cc75-9f97-4b4f-8da6-461f45e19a35 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:d7ebb6f5-e454-45e1-9fd3-664eb4eaccf2 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:bb4239ab-122c-4336-ac4e-4ba8e4114f04 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:ffdd0279-91b1-457f-a0b4-9adaf084adb2 phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation P23Y infores:phenopacket-store PMID:35923690 uuid:cf62f6df-ae70-4c00-bc15-2ee256fc8fcd phenopacket.store:RPS19.PMID_35923690_50–6 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:cf6015cb-b745-4d97-a0e4-f017deff6491 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:55aa0b7b-24db-4f0e-9946-8e62feb542a2 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:112a6703-f3cd-4b47-ab97-acd44051c1b1 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:89203ba2-3d94-481e-9cde-8ba3700a60fa phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:093e584b-69ce-4487-a5f1-a4f75ee89956 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:b3579d73-cdcd-4f34-856f-185e53f369e1 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:eb0ecbd8-b849-4cef-ac92-aeb90c7cbc17 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:00168676-d83c-40c5-a637-78d21fa10e28 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:89500a3c-e29c-4969-adce-85482f533f35 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:681a518a-3423-405a-b535-8d8018664477 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:8d8c3705-528d-424c-ba46-99c7eda65ee9 phenopacket.store:RPS19.PMID_35923690_50–3 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:fcdc8270-9b11-4947-bda4-2be2273ef262 phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M7D infores:phenopacket-store PMID:35923690 uuid:2c7a052c-fce2-4c0a-b728-0f15bdd61e90 phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:c46b2495-c1a5-4816-a340-8eda2d2891a8 phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:b3f249f5-0df9-4e0c-9248-7d9593e88295 phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:a4b44c73-4e9e-4b59-b551-e9e4757ab39d phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:09c90424-ebe1-4db2-b4f0-f22a534ba961 phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:d1190585-80a4-469e-9b39-c5b8783a2860 phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:8bce0b65-b114-4a33-a4bf-1c27f5901d7a phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:f4cf65dc-cacc-4dd8-b261-41827914cb3e phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:f65f1ce2-a737-49d1-9a5e-ddb5c56b3ece phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation P1M7D infores:phenopacket-store PMID:35923690 uuid:1f27c227-cd10-48ab-bf96-3bcc7093eb9c phenopacket.store:RPS19.PMID_35923690_50–7 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:98859c1d-21ea-41fa-8254-5d783fad414b phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27732904 uuid:10655f36-58a7-4783-b4ff-8954e6467b8b phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27732904 uuid:f9d02aed-49a5-4b9e-b33e-c92e535589d1 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:27732904 uuid:5032e920-db81-4f86-a12d-d912d1ec650c phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27732904 uuid:22ff55b8-7a1c-4f9c-a46f-945b2c9834e9 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:78444516-29e0-442f-b893-8da1cc563bd7 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0008437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:15a1ce8f-079d-4331-9d07-bc48d74b3606 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:ec7a9b62-1892-43b5-89e1-1d8107185fc7 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:98a2e163-ccf0-41fd-8d18-e156f429dcdc phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:37149a96-3dd5-4ea6-951f-ea0370d2eddb phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:12ac73ee-c603-49c2-bf01-6c4b7baecfac phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:4efaed31-26ac-4538-966f-c5b25efc2cee phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0008447 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:c000de06-928d-4f1c-af29-d6d4bbed2512 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0008475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:abb3f894-44ae-4181-b17e-91d7b176a363 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:af561341-95f5-49a2-b62b-135369468ba6 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:a1834275-58f3-4d56-b5ee-4357f3c5cae4 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000457 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:7186583c-5cb6-4e07-8b31-3da750d4a1c6 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:9342dc28-c4ab-441f-8a29-56f2f28685cb phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:a9cd4b84-6b35-4e97-b99e-c88b2858e83d phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:3ce3d9d2-6f85-4670-8994-4160e1e70032 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:83720b8f-4225-41d3-a137-b63ead6cfe5e phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:51c79944-431c-4445-9a40-9d19920a6822 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:96eb0dba-8584-4d18-b641-3404a6616ec6 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:a940f07c-997b-417d-a256-24688f396f9f phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:ea3f7b99-7494-40f4-a3dd-fe4fd96831b3 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:42e64d09-de07-43ee-bcc9-d6827ee8fc1b phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:90b190e2-e5b1-4694-859f-5a74ba4ca789 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:3583abea-62af-46f8-a967-fac3c49d8e48 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:57b466f2-0e05-4f36-8bc0-086455ef4092 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:53bcc8b5-695f-4a67-a12d-c7d4afe117a7 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:36aa9818-6888-40d8-9cd0-ce920025435d phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:ccf07b3d-8ad1-48ca-a8bc-fe7c51b0a22b phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:b417334a-fbde-402d-bc21-8d413b58e8d2 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:b9ced482-49e7-410d-9089-d00faac01504 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:27934a00-9ae9-4084-87c4-1a934b04ddaa phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001896 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:8c2d1fae-a823-4513-a7d6-b30f9574b4b0 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:72512130-0412-4ef6-8c16-6d8bb08f351c phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:5fa73b0c-7765-480e-8265-f02e928d9fb2 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0002669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:2a21b583-b9d8-47c3-9940-8632ebea996a phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:e7674faa-3af3-412a-95d8-03e40d8b1df9 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:b79cc34f-c04b-496b-8106-8ab78bc2d412 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:f03b606a-8d99-4a56-b9ab-bb10e5ffeb65 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27732904 uuid:4ae57636-97ed-4468-9a8d-cff486bbc606 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:27732904 uuid:932f6498-e18d-4ae6-a2aa-04cbaec2b738 phenopacket.store:RPS19.PMID_27732904_patient biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27732904 uuid:6ec590dc-46fd-44a0-977a-00239e4e7717 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M7D infores:phenopacket-store PMID:35923690 uuid:ca4907d2-306d-4b12-9114-37cc63c97468 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:f0ccd8aa-91a3-4cf1-9677-c501ad5d2920 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:154627af-fe49-4e94-8ca2-c0df2cedeae4 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:232deb87-5ba1-4e0f-b7e2-4a099ceec06e phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:4811c8b1-84a0-4630-9f20-97bdcc222d61 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:abe2a3ca-37e5-42f8-b5c1-896ca8a3b5d1 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:af13179c-257e-4fe4-ba03-1ef8378abc9d phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:9fde1f51-99fe-4228-af14-286a494fddc6 phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:4bf37f4d-5f1e-4125-aadf-1a443d34855b phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation P1M7D infores:phenopacket-store PMID:35923690 uuid:cc8652e7-761c-4fca-be50-4e4a8023f8aa phenopacket.store:RPS19.PMID_35923690_50–9 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:9741f2c5-4b27-4b1d-9326-ffd40dfac5d0 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:0895d255-5091-4b69-bfa5-3a9bd0bb994f phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0002671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:35923690 uuid:2d26c036-ad47-4b28-aa00-58d32b8788a3 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0003003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:35923690 uuid:df61b12e-6692-4fd8-ac3b-95f6734b9084 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:b7cd74c0-63f1-40e2-adc9-5216b2a06999 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:24f26731-cfb5-4a57-9d19-eb9d26d00ec4 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0030270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:d3c4f749-c657-4e40-8852-60aebf9dbec8 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0011904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:230facf4-7ceb-4001-864b-4fb3e176b5a0 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0001245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35923690 uuid:870b50fa-4a6d-4487-86c8-94250bfb6220 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:7502cc29-24cb-42f4-a1fe-8ae130c364f7 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0003298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:00c6f1f8-62c4-4522-b848-889d41579cbd phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35923690 uuid:8b6be064-98f9-4ef6-957b-c188f2446df2 phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_disease OMIM:105650 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:c8031506-4feb-456b-b000-52cae6fd4b4f phenopacket.store:RPS19.PMID_35923690_50–1 biolink:has_gene HGNC:10402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35923690 uuid:731f1e16-6328-479d-8d91-91ef7ccd5e2a phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:35617047 uuid:3234daec-d33c-4b4f-95eb-503578c5a46c phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:35617047 uuid:1d319c42-83d7-4f77-8704-8b5e55192fdd phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:c183649c-c0ee-428b-a537-0c49b4378d49 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:3b4abd85-375c-4411-8c67-64dfc9e6b6b1 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:f4a57e1c-38af-4d46-bad5-a4416f8ee259 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:12e6878c-e758-45c6-bd3a-5294e8e1ab1a phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:235e5d0c-99bb-46ea-95d5-1371a0039109 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:8da27615-e299-4618-b70e-0ff9f96a3c2e phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:2249f3bf-3fe6-4758-bb9a-0aeb92d49741 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:eff4074a-6f5f-4eea-b73f-d0463af3e296 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:35617047 uuid:38d66851-3afc-4ce5-919b-c975775733bd phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:35617047 uuid:c3b44983-4023-4a42-8e4f-6ceb77b677ce phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:3a950a41-e729-44d0-b14a-fbfa22509ba3 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:bd204780-c137-4315-910f-3203787b0154 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:98649e55-9dc3-46b6-91f6-98255d12d6fe phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0004326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:d3543a76-be0e-4c1e-bab9-6eb4ed58204e phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:eadb9c2b-4304-48bc-93be-06e54a62f06c phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:3a2d2e0f-8994-48e7-9ef3-7df55bfabd35 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:d9408729-07fc-4b9f-8cf2-dc9455d1746e phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:dcdb1668-7e9b-4398-8705-e908fe812382 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:d2f0863d-5791-446d-90b1-10643387831d phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:69e7b5af-cf37-48a0-a126-e6f614218623 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:e96a2b84-cc02-4668-9135-52b62185df96 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:9e016df6-5e9d-4d83-9677-bff990e20772 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:6619e981-192f-4a01-a37f-d2a3d7747a16 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_disease OMIM:620647 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:35617047 uuid:21e3a9c4-b9b1-4b70-bdc0-c49563268f85 phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:has_gene HGNC:10451 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35617047 uuid:8db731aa-05d2-4389-a2f8-74d514c974f4 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:35617047 uuid:d18b0134-7172-4e32-9b52-0b85b1b8ee69 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:650a0ea1-db64-416d-9d40-986c50666eb7 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:425a3aff-4b23-428a-99a4-2950bf1a041e phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:f31d8f03-da73-4aad-a9f3-24a79ffd57b4 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:325e9edd-37df-4c21-aa89-5f2f26fb06bf phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:3fa65c40-96c7-4970-8db1-1fb5c431ae84 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:15f7b5fc-7a16-4230-b3b5-787a1fb10d27 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:24e89f60-1958-48cb-9dac-aa5856779ff5 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:cc62c86e-4382-49c4-a71a-b71a83c34a4e phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:5dc7730a-8fef-4a94-baef-7b7786de3ffe phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:e7757c68-785d-4567-88a8-6707df58a460 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:0d7c241b-c92d-4d78-815b-c2bb27eff091 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:7df23f1a-a5dc-429a-a630-b947ee39bda4 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:d3702686-3f8a-4901-b030-62764b896f3d phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:558884ce-340d-44f3-92df-ed3e95430f26 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:0aeacda2-9632-4af4-8e0d-f053cd1ed3e8 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:b926270c-afda-468f-9660-8263536c8249 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:ae676528-f702-4415-8c60-493f72e1aea1 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:f3649a0b-72dd-4d5e-a2cc-ecdb90c4790d phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:0ed36bb9-d0a9-4268-856a-67b5d51eb848 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:4d59a500-53f7-407a-a77f-716f03073262 phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:afbc99bb-58e1-4864-9b60-7a10f4368d5a phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:bb787c37-2a77-476b-ad92-a0181216ae5e phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:fcbe89a0-801c-4578-8e72-ec321b639c8c phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_disease OMIM:620647 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:35617047 uuid:f80046e5-b0ab-41e1-9d28-77ea883a477d phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:has_gene HGNC:10451 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35617047 uuid:6cc2679c-ec2e-4d28-bc0c-46b478fbe80a phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:35617047 uuid:0bbaa564-bc0f-45fa-9269-80ca0ef90d1b phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:35617047 uuid:51d5e5c9-1589-4ef2-b14a-e2865df62bf2 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:35617047 uuid:2e4ba51e-c8e5-4dd1-8069-1e4825bb10ce phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:ca3b8019-a106-40db-a69c-649647af950f phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:18224679-7fb6-4405-9472-2b19731ae4cb phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:7cd77115-fd37-449d-9295-434aaf624881 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:9c993ff0-4659-4cca-9da2-91202852d7fb phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:1b1c5acc-444d-46f9-a94e-f38bcf835a46 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:88564375-744c-40b6-b81a-b83c3272aae5 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:c0ce3db0-29c0-49c0-8ad6-d6d49494af0d phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:f8d0bf48-4323-4500-bb91-d3f2363b5cd1 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:e3eb3995-5611-4e4b-aebc-98f819c3053f phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:6ffd1f7c-fd74-46e4-99ef-49192d640e7c phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:bc7808d9-27b7-447e-8854-970588617e29 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:fb2c8f48-5572-4757-9108-054757ef8040 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:29a4bb0f-3d3f-4636-8341-aa93a5b4646a phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0004326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:74ecd113-b232-4840-8763-bca4e54a65a1 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:4182b8ed-bc86-476f-8c87-027373dd1b1f phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:a27807a2-b130-4c8c-802a-fb6750455155 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:bdbd5b59-1ca1-4032-9f25-9da9a79cc1ef phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:8211b6d1-a99b-4571-8495-c69b352e681f phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:21d16bc5-458b-4782-acec-7818514e38fb phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:34046c28-646d-4297-a683-860097a322ef phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:be589b39-bd3b-44cf-857f-16b6e7cd7c84 phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:7a544434-d6e8-4cb0-87d5-2ba52f73aadb phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_disease OMIM:620647 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35617047 uuid:d6f42c69-4734-42a6-9155-3acf300e535e phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:has_gene HGNC:10451 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35617047 uuid:7f83865d-0173-4145-91d9-b2d5c06db2e3 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:35617047 uuid:05d57a84-1e62-4839-b8ea-4993f76f4412 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:35617047 uuid:3b471e34-2c93-4cce-97ca-bc7c396b0103 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:35617047 uuid:c40d0433-4525-4d23-a839-981d2a701f8c phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:35617047 uuid:8fa25186-bec4-42a1-a31c-9baef5500606 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:9ed34c70-d315-4bf8-bcc9-aac123d33f3a phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:9f7f7d8a-7518-4d45-8cc2-2a73dec3bfd8 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:27bdd81d-eeda-4b98-8d75-dc07d54f9612 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:7765f30f-60b8-4345-bb8c-4caf2a063d5a phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:3b0a2438-ee6d-47ac-8d49-483c1fe6f379 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:3c5bcd11-9f77-442f-8546-7ec7005f3c06 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:8707f200-08af-483a-a25b-b2c7cc2446fa phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:22bc327c-b10f-4902-9e14-9fb2ca812c50 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:a732fb58-19ae-4f8c-8cbd-60dc5373852f phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:1dd87b5e-6278-419f-9770-6749d6254a92 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:add085a5-2ea0-4c08-88ea-3de3a0669c4b phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:3e9f4636-4d27-42d5-92e2-681ddacac6b4 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:41b66da9-31d0-400f-9478-70db18776e24 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:9242240d-7e5f-46ca-a37d-28c27e923845 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:fd511fbd-c049-4e82-bc4d-8fd8e6fa02f3 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:d5f51bf5-ec24-4523-afc5-0d7891c48808 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:4249dce2-b536-4ca3-a73b-6dc6555a2fa9 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:1a0293d4-5beb-4ccb-8cca-96f4fece0233 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:f152aa74-eb3f-4364-bce9-ab225161b23e phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:f2783f37-084c-4a9a-a617-e978dd5d0216 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_disease OMIM:620647 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:35617047 uuid:65dbcd91-e265-4a09-9618-8834744df231 phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:has_gene HGNC:10451 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35617047 uuid:6c3f7ba1-0da7-4eff-87c5-14a64b06143e phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:35617047 uuid:8613534b-c404-4f4e-ade2-115349b1956f phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:8f10fc59-f3c0-4a92-9c13-c77a16c5d5dd phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:a59e0b78-9ac4-4aca-ae77-0c545b22cbb1 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:46da8cce-f664-4d00-8fef-9cfed008c249 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:fab12ae7-0872-46eb-be8a-d5f6b399cb47 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:65d4d7d8-5c57-4596-b460-510c58adc91d phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0004326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:c9427232-485f-4556-bdf8-305199876211 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:2ea3bcca-3130-4496-b376-d24898be45bd phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0003198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:5a4e3878-7e71-4542-ab8e-aeb3603ae297 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:fbb595d1-d746-4777-acef-4cf5b5af1d25 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35617047 uuid:783c6614-e551-4adb-87e1-59d340685e6c phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:1883e16a-cb08-485f-b7ff-f6e50a5a3f75 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:ef7b8e5e-92b9-4008-9b1f-12660e0a762b phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:84c67dad-a1fc-4a48-b8e4-167afe615e80 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0007141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:d8ccd55f-fbd2-4b34-b7c6-02e0f509f212 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:0a2f0cba-ba4a-4dd3-a2c1-97627173b029 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:326c9382-20aa-48c0-9004-df2536936c73 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:de84bf26-999f-46dc-9dc8-c3bb5dabff31 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:ed95db24-9f2c-496c-a54c-5cbc1a61ef6b phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:aabe9c51-8d6d-4755-8721-fb2dc9731500 phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35617047 uuid:1cbabc68-c03b-4a69-a37e-3cc4495157cf phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_disease OMIM:620647 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:35617047 uuid:088f800a-4a45-4727-9aef-02b647341a0a phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:has_gene HGNC:10451 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35617047 uuid:240d776a-fed9-428a-bccb-7743c7920a83 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:38527963 uuid:df48a36f-a2ed-4795-b78a-36da17569278 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:fc615896-5b8a-4e72-9e1a-9423a37f4aad phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:0b7b7f3c-c0d2-4490-9633-6d13c56bf705 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:fac327b4-f8bc-4b74-ba2e-7a36539852ed phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:e5839998-8ed6-4a55-b08d-b3930ad37c44 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:cb86b9bc-7b85-422e-b2e8-6dcfe93e9525 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:90bb5880-146c-4d2e-ab19-f833306334d9 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ddb450cc-040a-4dd9-a013-d4c9257206e1 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:bcdcb801-7806-4623-8608-5917149a1229 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:aa054c47-75a9-450f-a62a-67cbb788dc8e phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9551583a-6596-42a3-a040-62fb5e9ad18a phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:3787a143-711d-42b2-b046-c19e9afc88dc phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:900ae843-5963-465c-8f0a-40888a03588e phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ed21d9c5-43bb-43ff-99dd-fb5db6bcd884 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:7d14dbfe-575a-424a-a23b-e968ee0e674e phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:7991b323-fd6a-4f08-8acc-6b1a6eae8598 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:ef36d9ff-f1cc-425a-a8b8-efc1d1c662f2 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c459ace6-c3d9-44f1-bcdf-5a4d1ba59e87 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:a803db8f-9466-4fbe-a62d-6ba9d4a1812c phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:8fe00ab6-cd3a-470a-bba6-0f6031a6fed0 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:aff97353-ebc8-4797-bb8d-c908e449fa51 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:52be34f6-424e-41ac-af7c-170356a4de91 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:7cf1c74b-121b-4c6d-bba8-c58d4915193b phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:38527963 uuid:ffbdaf4a-03a7-46ea-974a-88ee609613d8 phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:b863bebc-93bb-4b04-b3f0-660ec83a738b phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38527963 uuid:d4112a98-edbb-4471-ac1a-762f26d282a6 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38527963 uuid:7d5da5c3-eaf2-45dd-8ea3-4edd825db813 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ec6e5c4a-1b3a-4d4d-a855-e4ee716efbcc phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:8c64ac09-3a98-459e-adab-8663affdf217 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:31f30fbb-8d47-4cc7-8595-86d0ebc2dcef phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:878e7ee9-3acb-444c-bd89-6f93e436d5b0 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:5d20dea8-013e-452d-b5ff-8df54fbada2c phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:c7922cdb-4c51-4247-8d92-ce20724b063e phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:be40eef1-51f5-44c7-ac2a-125a40b58984 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:21ff64e2-b065-46a9-8ff1-308e5beea222 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1e643b8a-58d2-4af0-b524-e3c9cd113dbd phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:153d11bd-4994-4a1b-8b69-ee40ca8f54a8 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a5723d95-5391-4493-90f9-8c8b5b53acab phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:fd78c039-065a-4b69-96f0-70ab6d10e5e2 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:8fbd2983-de0d-43b8-aeab-571518f5d259 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:653114e1-06ca-41fa-bd87-a53b46a765cd phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:4bbee556-f2aa-480e-9dcc-fb4e0fc41129 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:72bfcec2-5df3-4df6-bc5a-22be22420a31 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:07db8c63-01f1-4464-b2db-f67cb2a70430 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:efa7b626-350e-4b00-b288-c3f3d4733fb6 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:0138e197-352f-453f-ba51-618cf48be715 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:80120def-d361-4c3b-92e6-a9d840151928 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:73a8958c-2e86-4bad-aae7-f0cb6713acd1 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:04081b19-dd3a-4508-a35c-ccb2ee50dc85 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38527963 uuid:9b2b9f70-027d-4f95-b016-7ad09ff2f821 phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:2091d8fa-e793-417d-beb9-f12d31cf7986 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:7245aafa-8629-42fd-a503-09ef144d7a32 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:be7bd96b-03be-48ef-838d-e09972797f9c phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:e8bda857-1079-4fe0-b4db-7db9873800ab phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:8b3b9cef-297f-4624-9c6f-a0a51943b3a3 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:4dc0c465-71d5-4fb9-b7f3-3573b15f0a49 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1e43d8fb-bd13-4d6b-b814-306860508171 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2c250c87-861e-4b24-b0c8-e6afa11958ea phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:114cdab5-d321-46e3-a12a-b0f7174722a1 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:6e1d4c2b-736d-4a9e-b66d-943261df7ff6 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ade9407c-0aa7-4bf6-8d82-ef4ac35bbc46 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:90b50511-809a-45e9-bbf0-d97280c599af phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1b291504-8d51-4863-a4bc-db426c60450f phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2636207e-6fa2-44b5-b858-8c2ecdee0584 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:fec143a4-ac8b-4567-8465-8f17212f8064 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:cc0211b0-3018-47fe-aa39-43b08ef16018 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:52cccacb-09d2-42ed-b6eb-658b0e201814 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:46227ee8-3d7e-4512-856b-e53f14c74baf phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:27514786-379b-4921-bac7-33d4d4252206 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:8b06a463-e072-493a-a641-00816d768de0 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:7ecc468d-2d72-4502-9d34-17a50dca7f12 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:ef224946-16cc-49b8-a86e-1da0908c44d7 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:1d3d6a24-8a9e-456e-99c7-907ad0b32393 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:06f522f6-92ad-42e3-8484-56bbb840b484 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:38527963 uuid:f31b4c73-9662-4e58-a179-9c464c88d4d1 phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:b311327a-49c4-4db0-9f94-09bb14e050fe phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38527963 uuid:cfcf0092-f923-405e-bf98-217bd91ab131 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:88342203-d3df-4210-9b8c-c85eadbd1865 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:48f63ff2-c2db-4936-9e10-176027e38367 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:45afb074-34c8-4769-9ea4-a368d5ea8ad3 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:e8f0dcf6-e44f-4275-995a-2495553b9f52 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:20e5e201-61e5-4293-a499-70104b91d282 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:b7a11e7a-48a5-4546-8d39-5e92ab0c41dc phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:70616fbe-e3c7-4952-8b3c-cb09fa903b32 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:e7d5782b-c87e-4c3f-b453-ef1053970129 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:045266b8-6845-435d-8373-cb8e3f6f646d phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:85c3a0f4-c030-4939-909c-3ab5e2370058 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ab247d79-f025-4362-a8b9-2f4dd13e0303 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:c5c406ba-be12-48c5-aa7f-151d13243f09 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9c9fb921-4ab0-43e9-b75f-8b1d47d606a5 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:01a94263-b1fb-46a5-a370-cdc3df49f3bf phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a10747c0-e3bd-4a67-9a7c-6d9d6b8387d4 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:fcf5f524-85e8-4d74-99c6-36e57b9d9b9e phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:677c4f82-613a-4d77-b3af-008019f49758 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:3e931bc6-2dc0-4fb6-a811-5c8a03275f17 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:ec219412-51f7-4881-888a-f3bb31a510f4 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c2565fb0-7be7-494a-b8ba-709ead35e965 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:f6cfde1c-464f-4a6d-8f33-aba916905a03 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:f866de98-63ff-4b75-8dc1-b17af0f5aee5 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38527963 uuid:a814442b-5d04-4706-9af4-507ab69a01c5 phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:f920905e-3143-41ba-9925-0ca9e87f71a5 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:38527963 uuid:6850c92e-cd2e-4392-a3ff-4aa1d9fb9e41 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:38527963 uuid:2c40ffbe-58ab-4698-96b4-41c25dfc4d97 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:c44fc603-26d6-4912-a6c4-b2f2bed2ba4c phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a4ba6a04-590d-4ae3-8bf5-efed87d1f033 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:f68d1578-b833-46f1-a7a2-fff1aeab360e phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:5e349401-a750-4c4c-bb52-f6f7a190bc85 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:c7130bed-969d-4614-bb35-473238f6d9eb phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ab5dbe8a-47bd-46cf-aaaf-ad34cf9beed9 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:8ec3e1ec-cdf3-4e0c-b04c-8e847c890563 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:af3a7e25-e55d-4188-a5a0-e11b6865f563 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9b97bf05-2b4b-4c3a-90bb-429a259f9ef1 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:0bd2daef-94af-4eb0-9dd5-c5227caff7ac phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:f0503316-01e6-4456-8b85-1ee6f01b1cf4 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:32448292-0360-491c-9768-fb40a4c0bdda phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:1b626695-a412-4078-a242-abe42fb90ccf phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:e96ef76c-2efc-415e-a7bf-aceafd016557 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:148458af-5f02-453e-bd9c-4f0407caf0bb phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:07dd6bd9-beee-4710-b11e-ded6665146aa phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:3d24fda5-5724-4dd3-9bc3-f6e856221996 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:ed6de6b6-e98b-4078-91b0-87ce3c2345e8 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:09084c03-cc85-483b-ad5a-27b8972f75da phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c02685ff-acba-413e-988a-7d15b2376be6 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:ac3c65dc-def9-4e65-aa15-d33dbc592783 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:4f2ed249-df58-4343-81c2-a1f903050d1e phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:38527963 uuid:16c9d41b-571b-485a-8bd1-db6028644910 phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:8ec51a85-bd2b-4ee5-bb2e-822b7b06c597 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:cff1f833-744d-4cc4-b041-9aa76be504e2 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:ac0fa79a-c8c0-4c9b-9993-7fb9ebf13f95 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:79066a72-52c2-4f81-8d77-a2fa4af3a767 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2720cc1a-8d35-4303-8375-ee79f5537336 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ee6bebda-7898-420b-907b-754524a4f917 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:353d58fc-18c3-4109-b5ed-e310279ce9d3 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:91d00387-fde8-4861-b04e-c4f42296c9bb phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:3cb568de-9ed4-4538-b75d-d99a9bd0be63 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:193e9ebc-38ee-4af8-9543-beb68e36fa09 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:94aa5dc7-21b3-4368-a84a-3d55435686b1 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:cc45da9e-467b-4f08-af44-38dea844cf33 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ad325df8-ac86-48d4-bc7c-566f8dfbb86a phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:97b0f41c-e261-4bc1-a6ea-e57399d374d4 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:84b76b76-9eb0-43c4-a7c9-905b3b8c6000 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:d07e2143-2586-40cf-9ff1-d1e8027e1a3d phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:35298723-8cdd-4192-9fe0-e3636fd80f06 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:ec0ec61a-cbd3-4103-a8a0-ec69d6ad242f phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:a5bc0efa-ad19-4ccf-89da-dee8ed25c220 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:33705ec1-96d1-44d8-a89d-1d9757551947 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:4a250f77-9fd5-4d72-ab50-e164febe2bb5 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:481d22ee-64d6-4018-8cbc-374def302a39 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:4e5c728a-10d7-45e8-a6bb-33516b6c9f19 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c0fa88b0-9408-47df-95ec-7187d1a91928 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:38527963 uuid:06c628e1-445e-4035-ad19-1cdedf9b3e09 phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:1e71f125-5ba7-45de-8dc5-9f76ecc2e7b2 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38527963 uuid:a3436541-18d4-4bf7-baa0-b6b6b15c5a53 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:78faa52b-2dca-4415-b8c5-4f8ea0dac189 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:7e2a1677-007c-446b-b061-fa66ff2ba1a4 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:e56a44b1-dd9a-4e88-a492-71e1340ecbb9 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9652a81e-7905-4603-91d1-189a2af64939 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:886d7a8f-fcc0-4c37-beaa-a4db0f7d80c4 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:4afb70a9-22de-4c6c-b117-738585b08d0b phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:3b92a2a3-913c-4ad0-9aaf-c05df46d467c phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:f16f8054-df38-4465-b814-ca40a9c21920 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:bde10ec3-069d-421d-8613-35d03abfa566 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:c661d23f-6e0e-4cfc-a53a-62963afb578c phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:eafc4ad2-2746-46ce-a4be-00ba71c1f60a phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:401cc546-1055-47a3-b965-7084f9d33198 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:557f1868-b610-4b3c-85ef-169f9aee2607 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:3dc669f5-c1df-44be-aa14-20e81e94d238 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:0c5c567d-1849-482a-98e8-bd651f64fe1a phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:e983ded7-47c6-4a11-bda6-f8ea9264c0fd phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:e8d8982c-362b-4a92-b5cc-82020cf454a7 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:bc67b409-97f4-4e40-92e1-e85542fdb9ae phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:f9d2a327-7e9d-4ec2-96f8-d096b4a66cce phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:2004e829-9b73-42b5-9ce3-eab46c4f4bb3 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:1902a15f-944c-42ae-adc3-d588050839f1 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c14fe334-8949-4dbe-8964-2661040e8ade phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:164972c5-0a0a-4646-8f59-fbb1f7af2c9b phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38527963 uuid:eee76196-6df5-42ec-9bdd-d3c3bc13ff66 phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:2f053c28-a919-434e-ae42-190e79b7bf76 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38527963 uuid:0ed2e942-0fe7-45ef-ae18-6078dd5615ea phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1473dc69-3acd-48b7-932d-ecf0487ea8f1 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:14194d7b-8fc9-4d5b-b1c4-6bec9930e15d phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:c3ec7fc4-5f0c-4fd0-8500-ea9c1a6908cc phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:85122383-f465-4b3f-8fcc-d4416414f1d8 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:211cd67f-d3d3-48d3-acde-f45a1d793f2a phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:cbb04fc5-2cdf-47b4-813c-c50673fa4e29 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:fccfe61e-f98a-496d-ae62-08917dadb09c phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:bb88a7a6-af44-4d44-8b2e-b9b0ff01c49d phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:cb5dae77-4233-4cb0-95fa-08f1efa80c5f phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:7a83a76e-98d3-4df9-b8ef-49c778de64bf phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1830cdc0-8580-4aa7-8692-7fa6241160fb phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:666cae1a-e33e-47af-b98e-13422240078e phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:4f0cfe10-e9a3-4531-99c4-e54eda1b7478 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:01202f6d-9d2c-4236-a040-9a496d987223 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:acfd9671-bfe8-47ac-b212-9531657a5b5a phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:9ce2c36b-263a-4824-9e4c-94928b73d60c phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:7c8ff9b3-1477-4c53-8447-0928ee327c49 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:161fb2fb-f81f-4eda-8b9c-eaed2ebf3e02 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:a091a977-368f-466a-83f1-801ab04887aa phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:111012b9-a6ec-4e42-8580-2d842b5d6cde phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:511d597d-a204-4308-b4a5-95dd45c7e3ef phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:f7b6d322-57e8-4656-b2e4-1ee78840403e phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:9e957597-0953-449c-a5d5-58bb9f931762 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38527963 uuid:d1d8ceba-f577-4a7c-9b75-295130d6e250 phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:1e732849-5e64-477c-b4ea-96630bc883f0 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38527963 uuid:aa7fb871-8c20-46db-b05e-cd844ee148ce phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:b80b1180-70cd-49a9-935d-893169886278 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:4cecc310-b947-47b6-bba2-7a9e24091af3 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:196e7966-0d29-4095-bffc-1cc81a3c1dc0 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:dc076353-7ff6-48ed-aedb-38e458527e82 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:026fff72-6676-464e-85bb-6bdc5e98d6b7 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:390b5633-b373-4bec-a611-3e8667bdea0a phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:64b82fdc-63e5-4f1a-b28f-8b8388f97750 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:b54da0f3-f206-455b-913e-01bc6170ae90 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a643809a-7c94-4203-b3a1-11ac857d9ff9 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:5f6d9743-e5c8-44f3-970d-a617aaa6b925 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:f60bb785-ee03-4ada-9349-fc5b8bd10b9b phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:77397b65-d9e1-4b08-89d1-bb785a0fa4e8 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:565608ab-2dc2-4875-bacb-0d8f25f323ce phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:50bba686-8bd1-4213-9426-53793ef88aba phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:549d28eb-ff48-4456-9877-0249baa8da2c phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:05575b23-67d7-4330-8e3f-b98cdb9768de phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:6c40fa28-2e2f-4617-a1b1-cb2aefa08757 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:d4d7b2d9-3564-4f10-8d02-2fc1718f36a4 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:9caa68f7-b49d-4e53-a748-d8be20d1822f phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:37dffcbd-2f85-4a74-8e56-e19fd81fbc0f phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:7e3a91b0-7a12-4664-96e4-882200be5426 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:3eca8d04-51b6-42b0-ac15-4645c5a6cfea phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38527963 uuid:1fbd7f60-0247-4d07-a238-7d494a1dc7a1 phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:c619dc51-1475-4a70-ac70-57912717e7eb phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:38527963 uuid:59003889-6264-4935-9574-1a0888251727 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:652306e9-bc86-4721-b1d2-91895d3d6bd8 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:13fea40b-c964-40bb-918c-93bb52b62bb1 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:d2ea2646-53cb-4c9e-aca9-1f662d19d0b1 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:6eecb947-402e-432d-877c-4a05ddd3586e phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:68a3378a-79d0-4f3a-8e2c-e4cc77d7110c phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:636b727a-aa62-4270-b22b-58ba5d8a7b04 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ee3fdeb7-77db-4693-8e3e-a95dd56ee529 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:dc70a7ea-3dae-4990-9e98-21607ccbe44e phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:66ff7b99-562f-480b-8233-c6f37b7dc09e phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:b5946c4f-9ff8-48f4-b581-cec7bce722a0 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2809dd11-cf9d-4fbc-9cbc-b45acd0cfcf2 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:d4503d8b-7d8a-421b-bf6f-e8c8949bc9ce phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:53f76ca4-ba7b-4197-a397-232e9037a10d phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c4bc08ed-78a4-4167-8bd0-64eb7a09ee8b phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:1796d455-0b3c-4cb8-91ea-0ed50d57e04f phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:e4e32767-3367-4d42-a5ff-1ba9033ca426 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:82f23833-0ab7-4648-b340-74ba3d6089d7 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:59ddecb7-bd81-4275-aacf-99677ef21d5e phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:4a972c25-f552-4455-a495-c437e906d41c phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:c54748c9-cc58-465a-8dfc-2d9e4d5121f4 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:65357dbd-4633-460b-b878-3954d375b20d phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:2641d299-3c2a-43e3-8857-40396bde1605 phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:38527963 uuid:f1682743-c7d8-4a5d-83e2-4d616795fcda phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:36c74fca-9bac-42be-a7e3-b3a2aa6672ed phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:38527963 uuid:979d079b-cd68-44ee-9173-6d4ff23611d6 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2811fab3-f3d3-4bc9-a9c2-1791c085ba78 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9ce86162-b0be-4817-90ac-3fc598e8a345 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:289d311f-aa62-45ce-8661-7782161a8897 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:b9ec6bff-827d-4d5e-8732-d944b8f63ca3 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:44e096f3-95d3-45e8-831a-eb348fed9326 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9858ad82-12f6-4d7f-a899-ac6392ee75d6 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:450aa734-58ac-442b-9500-ab6f23d64f46 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2514293a-d77b-478b-a9c2-0203e3235f5f phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:7b8d5dff-8c19-47fd-a67a-ff4da01d7a45 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:053eb6f1-912a-415d-98b2-e7b66414c86c phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ac1887d2-b6b0-4b90-8d64-4dc60e5aaa38 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:6bb0b288-6c3a-41ff-99cb-b17eb1f7f058 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9baf6c28-5bc7-4ada-b8ac-94a75bfe126f phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:22b21a41-730d-4532-85d1-69b38ea65d11 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:e4bd2aaa-7fcc-4198-85b0-332b9b1ae41e phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:2aab485f-9718-4620-a24f-7914916995c4 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:d90c66fa-7531-4e99-a551-d59c0b43830f phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:b80f25bd-7bda-4cf1-9bd9-412dce23b783 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:dea8b8b3-fd03-4c8e-b67a-8a412a92b819 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:6de007e4-a189-4a7e-b3cc-9a596a62d6ce phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:6691694a-e566-4124-8640-cd19e9b12623 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:95bfb123-1acc-419d-9885-65b642fd5d59 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:525e72b5-21c0-4351-a1ea-cc7be4d82ff2 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:38527963 uuid:338fd79a-7156-487f-9635-779303a9ebb8 phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:cd464744-58a1-40d8-9810-2b47b440637b phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38527963 uuid:fad6b23a-fcd0-4c03-85b4-5223d1089e6e phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:76c8e346-3a21-4eae-84de-04f1bf21b56f phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a4b59fed-3340-44af-b734-506907cffcd7 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9b61ae9b-286a-4f41-844c-ed56a6cebbf0 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:920b7f7f-5fd3-42a5-ab22-cd6b67ca7159 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:39634081-62c2-47ec-b340-a3e94229b085 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:7440e778-6d93-415b-be8b-743595912dfa phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:03fc586a-e63e-4d32-9695-3ef7e6327101 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:3bb48ce8-60d2-4f0c-a8e7-4a3e559c6472 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:3e80bf61-b0e5-4d28-9821-26589e57697e phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a39c9cb8-b64e-4571-ae88-54d4f0d7065c phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:055c8db5-dcd7-4650-b9c0-b8442f23532b phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:a1699937-0248-45ce-94b7-9c73d867649b phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:380dcd4d-14b3-41c2-b3fc-d60ae0d9e062 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2afb86ad-cca0-4e27-9deb-1996363a1ae5 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:6923d297-cbaf-4287-94dc-1a4c32e74d72 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:079e183f-9eb6-4d1b-9359-a2ad500eefb6 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:9c7ab1cc-75cc-4c34-8526-c1dc82be752c phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:29730b0a-ffc4-41a3-aff8-d8fa10ce60e1 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:e6f3632e-7290-46de-858c-fe65c8287004 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:29370e68-2c90-4083-83b3-e605fe08a9c0 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:6e0d8d91-ba4c-47ca-8f56-6bf784c64c00 phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:410b44a1-da68-4961-8c6d-3bc8f8a46cda phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:38527963 uuid:5d5f2e4e-8ee1-4e69-b7b9-827b1ea40e0b phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:c7415617-0116-495e-860b-7a4d1faeb7bb phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:38527963 uuid:e15dd016-8cc1-4712-adb0-f90ca538d7e0 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:248d1df6-bc9e-4226-87f7-1e341131ef4c phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:d60fdc25-4d26-49a1-b001-c532d9164906 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0009077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2832ccf7-58e7-4fe6-b383-d4c6126c4306 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2137e9d5-e65e-4073-8082-fcdd97f1bc17 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:5fcb2c69-d5f3-4c68-a2f4-e9ce42f38bb8 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0007149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:9ba8776c-9872-4a03-8449-bc052dcfd144 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1d75d96f-a233-4772-8ccc-597855d54346 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:ee6319a9-86fb-4ad7-80a8-d26480f04e75 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:38e24919-1dbd-4acd-91b4-97f9f16adb5c phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:b70e4adc-1c34-4d79-af81-4c53a84f1f3a phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:22b57312-bb6f-4676-bf8b-d9b520bfbb8a phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:2ae25583-14b3-4512-8ce3-8d52400c5056 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:d8983dcc-75b5-41cb-994f-69978c0b5b57 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:1f5b4cf3-c6c1-4f18-945d-351cd735df60 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38527963 uuid:039e0ac1-bc3d-4e1d-8684-21f8dfe26d3d phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:49346dfe-4dfe-4959-8ae3-97173db03415 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0000012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:de34d8d6-9a09-4f1c-b897-fffc22d0a2dd phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:1ebc5cb8-bda7-4761-ac3a-dc615a63e95b phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:759825b9-3b45-44eb-9529-ceeed3ba810b phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:a42b5ddc-b10a-4f06-87cf-052660ed5208 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:0a4c4dd0-6d55-49c5-93ed-d955f4ea2e9f phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38527963 uuid:0e88c637-81ca-4a66-b1ae-721165ac1135 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_disease OMIM:620854 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:38527963 uuid:fafd519f-41d3-42db-ba0f-61f2ece81eb6 phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:has_gene HGNC:10468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38527963 uuid:624a6a72-f4e0-4e3c-9ab1-22311cd71f28 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:09984843-3b78-41bb-82e3-b6c29c49ad77 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:1c4f20b2-9078-4ea2-adb5-302dffcd10c3 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:776c3a63-0d12-4be9-9052-dcb3e5bfd860 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:f99e45aa-44cf-4539-a370-0c5afa3c27dd phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:1a69fdfe-ab84-41bb-a888-740a84437295 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:7d9cb48d-0512-4f12-bd84-e7f9a15e4774 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:702d4b96-6f0c-4cf6-bdee-2be2a0bd946d phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:32cb2362-3537-44cf-ae50-0c39038ba313 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:e3d8a66f-5090-4383-b9c8-87813e62305a phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:c35d7d31-23a8-4f58-aa4a-68305233f6c0 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:9313036a-16d3-4c07-8bba-cc44b26f877f phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:b8d62d52-9e73-48f7-8c5d-035ef933184f phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:eedff558-69c4-4b23-bd73-f49edc9d1fe8 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:f8fe9b5a-c9a2-4640-ba13-8b04069a1e7c phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:850a5b16-fe8d-4cc0-aa65-44f9bb5e2810 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:f5e4e128-d02f-458c-946e-f0afc520dee8 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:f868cd46-b677-4080-95c0-2863f71e67b5 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:271ecfec-47d3-46a4-8285-616351f8ee34 phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:99811243-bc17-4b58-890e-cb54acc6708d phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:d87281e2-6f29-4e22-9ac2-87f789fe1576 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:4eba2e58-9e23-4c7e-bd8c-8f22286f0100 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:123e1bd9-6171-4a3f-ae42-6483862473b4 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:8894daed-d1f5-46af-b432-4c21ba411acb phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:e06b20ff-194e-4e1c-a23c-99b4fd791590 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:4b1d2aa3-7e19-4ef1-a269-4c0fd6939572 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:a4b4de90-399d-4c45-b1de-b566369badfe phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:54194532-36e5-4aa3-992e-9596204390d2 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:ea333c53-9b43-4e5d-a0c3-d9116efa3ce5 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:76350fa9-7957-44e7-93f6-9741b1081627 phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29883675 uuid:f1cfea93-7480-48c5-96a8-b50a96ea24ab phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29883675 uuid:cf7dcdd8-c8b9-4fde-aee3-b7b8bc213c20 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:50e9b6ff-dcf0-4c86-94d3-4e86acbc0f19 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:872c65c7-4d96-459a-8e7a-b12d75440bc6 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:be8d1c65-ca0b-4063-828b-109980dcea19 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:ab6ba5fe-dcde-44ba-a922-9970c3373dfb phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:6c62f690-6d24-4a27-b84a-91232c411245 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:2cab19aa-9854-4886-a2c5-f630165619a6 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:aa24923a-81da-4861-93ee-098071db1db0 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:d509f097-1bbc-41e8-9b6e-f98f7535c010 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:a1dbf044-3fba-490b-9763-2408fcd747c8 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:b290331b-f676-4a1d-bca7-decec8cae6ef phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:4a9d9942-ef98-4ad0-8fd7-7e915ea05ffb phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:8d386e93-3662-4aa7-9f25-88bdfa1792e4 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:465ab484-3e73-4cfa-ad5f-6c3b8bda0d4e phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:03cfdc23-9635-449c-af7c-53eb14a7d377 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:cb719fe8-29f7-4599-b5bf-e646060b13fb phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:593e0477-d3d3-4543-8b5e-25106e5d63ab phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:1b4a5432-7c53-42d0-bc81-4fafc9eeb264 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:7f1b8257-e54c-4317-9a65-82aaec9d7094 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:e8c3f780-f4b2-4700-a288-1b3ac633a82c phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:79ab9d77-073b-46db-9d49-078c9a56a94c phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22939636 uuid:8a7fb834-d0db-4fcf-a3c5-3013a3df7dc0 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:62664e21-21f8-413c-952f-f7365a2798bf phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:18b45265-becf-4d7f-a2fc-463ab95e65c2 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:d8dd87ad-d784-4f7b-9b2e-bcd12591119e phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22939636 uuid:ca1d4ae3-f32f-47c9-aff3-a986c84c380b phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:daecd2c4-f605-42d1-a668-d9a62f895754 phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22939636 uuid:5b16fb8b-268b-4548-8410-d7a5c1ae52db phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:04062520-7ad3-417a-8d21-bbd20c25df65 phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:def4b759-943c-46cf-a104-95a8447c57bb phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:8d1ef43a-6312-463f-8a65-0bef6edf4958 phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:81d6eec2-5528-4ec2-aac4-9ccd9551e5ac phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:24a20dc2-28d1-4522-ba67-9846c570db4b phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:d7011427-d2c3-4f6b-ae96-12657222b663 phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:37f6814c-6d74-4809-8d0a-dabb1d00f5d3 phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:c2470ad2-e6b0-49c1-882e-94773a3ad552 phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:b82ae262-6d65-4cde-9c33-1e523d92915a phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:1907bfc0-93ba-4e58-84ca-734a8e6305fd phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29883675 uuid:f6de5495-547d-4572-b899-e765251b86d1 phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29883675 uuid:94eace58-95c6-46a8-980b-e31b5fd03de2 phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:bed50afa-0ece-40a0-ac31-0ecafcdfa467 phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:b9968554-2682-49f5-9e1e-7716a659b067 phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:6dd86832-fb8a-4cf2-a386-391361f5304e phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:7d730ef2-15f4-4e67-8a9b-43b3c059516d phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29883675 uuid:8728562c-5a08-4df3-926c-c5af498759f2 phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0100025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:5459e968-b269-427f-8566-3bd8c9e2705f phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:7be192ba-2dce-4fe5-b9cc-1cecdf883258 phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29883675 uuid:cdbfb33e-2a90-4089-a572-963cfae0c97c phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_disease OMIM:614833 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29883675 uuid:42734869-535d-4eff-9161-13276637e3f0 phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:has_gene HGNC:18654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29883675 uuid:42ca10e6-ff99-46fc-ae58-e71805c8454c phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:9cbffb64-ef47-45af-a2a8-c726ae87660b phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:1c524bbb-7acf-419b-ae27-338801e17024 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:341fdfc0-d5fe-47c1-b4d5-251ed487fcca phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:4f31fda5-017b-461f-837d-2059274b0b17 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b6020942-e735-483f-a1b2-2b2d61a01b9d phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e1c219ad-b7fc-4ddd-9c46-5fdec1794b3e phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:fc73ed40-6d12-4b49-b880-e8ee548d9924 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:26a8f2c2-cdec-4572-b5bc-dafd75a577d7 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:89e70362-3702-493f-b893-d29463eea083 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:77009f39-b737-466d-b8de-6a075ecf2783 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d7297dde-6976-4ee8-a2e8-2e5e136e52c4 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:a03ab425-c484-4ba7-9121-79062de6763e phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:960ca027-7a53-4dd9-85a3-594c6c2d5bb9 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:5d5d67cd-20ea-40b5-97e0-6e2ebe1e3263 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:75c23211-1882-42e0-a4b3-ab76b1feefef phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:19ac523a-aaaa-4f25-a020-87ee95f092d1 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:1d8fc479-8da4-42e2-b5d0-e14893fdac50 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f22e346c-7520-423e-afd1-728fe4ec9db7 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d349849a-08cf-486b-8581-93f2d2fd5f68 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:a07040ff-8c07-46bb-9021-589df471afc7 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:bc7d75e3-4032-4d7c-a80c-8db96c8cdac1 phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:0e5e7d77-53f6-4c87-8f57-5bfc444a4a6f phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:fe8c9a4b-a9c4-440a-a44f-86a8cb206564 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:648b0833-ea07-4871-a5ce-b753ce90372a phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:cd69f705-4b0b-4099-b32d-3fcdabc16bc5 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:2cf9a94c-eaf8-4555-a4d4-1a17ab50cb72 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:86152cac-f0c1-4b0a-877a-83677975f9aa phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:50814d16-879e-42e8-b2ec-f0bf50bd01eb phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b3e41dee-5fd9-45b1-915e-d988ffb645d2 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:15904c42-8227-4feb-a708-aee9cde530d5 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:4055a609-7eb9-4df7-9105-55d71379db20 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:17310985-8b09-4b26-9d1c-5ed4f4007ad9 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:cf2a00e9-68c7-4840-9d6d-4c8c32b8414e phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e390f74b-2767-400c-88b7-258156e4f2d0 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:6c62a5e5-18e5-46ac-9943-a7516dc32055 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:7f7c2e05-d930-481c-b2e1-8707f617aaa4 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:283551a2-41a4-479a-9ac5-407bcbdbf61f phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b64d8482-71b1-4c11-8bdd-0a9f329f965e phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:2d1e6bbe-309e-424c-8e92-3e702eae0591 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d25579d9-5757-4b43-a2fa-0ef994a7f4aa phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31548836 uuid:192b11be-7a37-4a89-8d20-27e6a24fc829 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31548836 uuid:357f46b8-2c9a-4ce8-8f93-4c5136fa46f6 phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:8b0dae8f-e1f3-4f20-a28c-a012479cd28b phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:0e118970-e8f0-4f5f-b244-123d795ef475 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d5e5991c-b84f-4ede-b112-a75a8258ae87 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f3ea114f-1686-4f83-ba16-1d963495c08d phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d3d6041e-3051-4e84-b989-8dcbe8366726 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:fc84168c-8d48-4b10-8d33-e54741837074 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:ce20d0c9-6bfc-41ec-8c5d-30b471be8be5 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:9b1e7664-a8f6-44f2-b4ae-724b3281dc7c phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:12ea5f8b-683e-4686-a086-8b402b49ac0e phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:639c1a2a-1b9c-4677-a7aa-f9c05536ed1f phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:15e7fcea-91ab-4ce2-a4df-cd8f449e6646 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:a8d7d0c5-8aa0-45b5-9cbb-5e1c42b44e3a phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:68a40c5d-d795-4e29-b94f-47a0960886d6 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:2bac5e5b-c341-4501-b472-33710656ee58 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:627277db-4fa2-4b3d-af7f-94243e031cf8 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:9b2f4942-3db0-4257-85e6-0535cd5bbe64 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:7a13bd28-02c6-4999-b687-4fbc36899305 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:9d0c3084-82d7-464d-b61f-7241fb08100b phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:c9e5ce68-83b2-49a1-bce7-97f01302adb3 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:66df5974-b1a5-4f6e-80ce-111f88355990 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:fab831b8-da93-402c-a9a3-f2fe78473dc6 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e7926272-2d35-4a24-8721-3ce69ac7708a phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:9f374bed-7bcb-4a54-88c8-0e6324b4a723 phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:df916670-63a3-46d3-b8b0-37865c5d1339 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:3ee746a1-cada-4a63-97c5-21dc84400804 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:23f23014-fc3d-4dbb-921b-b21044b36328 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f7d4e556-ea99-468e-9781-33db95ce8b4b phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b63bd164-a4df-41d1-af0a-6c6d9d745de7 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:6c12c776-669d-4dfa-9045-eccce5a37657 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:bda76c3b-cc57-4ddd-b047-ed1094965202 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:1b990e70-40f2-4d62-800c-9df428a001d1 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:1af846e3-0e18-4484-ab7a-d74b0614c1db phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:ffc2f4f2-1d72-4728-bccc-ae24139ee0de phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:497d36f7-0dcb-4f86-856b-e2b15eb1d289 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:4a700aeb-86cc-46ca-a23b-398fbd43d77a phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:3e45bd0e-3021-4181-9e53-14ed3a1ebd54 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:7d5db307-35ea-47d0-bf16-82e562c8f0d5 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:171f5079-ed36-4e9c-aaf7-0e98b68a75d3 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:0f0fdcae-6f7a-4da6-b7e2-c7e4e35d4004 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d3f78dcd-a9b1-46d0-88a5-95d2292948b3 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:8edf476a-bfc9-49b0-9b37-7555c9e3c6de phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:8905ee55-c87f-40ce-8547-9d6b60e235ac phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e1b8221c-069d-4c97-8520-60e917aaf993 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b1075dcb-d274-4457-88ef-9ab183e4c4f0 phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:f1c1a677-9de8-4b0b-b6cc-42fe629efd6d phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:f22e3150-71c3-4b46-82c5-1ca29b21c1c2 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f0ca3e5e-d0a9-40b1-a32f-676acd4a60df phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:11e51266-90e9-414c-9b00-137937a8eb20 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:0b520eb4-027d-455b-a2e1-cc7e550b2431 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:7dd4f92f-deae-494d-8048-de9d41b2c542 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:5fe5db2e-89cf-4fe7-ac90-4ab69008f0a2 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:05a290e9-8f11-49e9-9725-f8e37b0513c7 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:35687a0d-77ea-4a00-83b5-499cc0494b6c phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:cdf26aba-4dd6-415f-bf96-a3fdb701f92c phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:ce3d8dc9-1e98-4771-a390-e77d3327b014 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:0a3b521d-3bc4-4551-9140-53a5db8b02b1 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:ddaedb06-1350-4ede-b657-d45b5fd91fc1 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e600e96a-787b-4109-825d-a769ac398912 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:d37175dc-9bca-47ea-9738-503f1f83afed phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e6af6e29-30c0-4ce5-af68-e26095550ab6 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:0219c676-0342-4118-8773-194ff80ab1bd phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:61eb858b-88e3-441f-a484-df6789f2b4f3 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:5b791433-4d31-4fb5-aeec-8cd3d4e1af43 phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:249ce91d-eed7-4409-a54a-89951b19bdcb phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:cc908b69-5537-4f77-ad4c-75a05dccda8c phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:9d518aa7-0f21-4b86-8d73-43a65983639b phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:54e9c4e0-45a1-4fd1-a8cc-3c3967b3ba5c phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:403f8d4f-778e-436f-a369-e99d769aa706 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:25c4587b-3913-4117-9128-54d210acd614 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:09b3ae5e-0bc4-4991-85f2-221e67a7358e phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:2d029888-0ded-4438-967d-6ebcb815b5ac phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:51669eaa-48d8-4c72-acac-55f2ff837864 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:37eaeebc-d864-477d-904a-9e92a1a7c3b3 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:2b4f03c8-598d-4069-92ef-45e76a948e20 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:bb9a8f8a-3139-43e5-ab6e-a29581e37c71 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:108aaa50-50a4-4048-8b82-6e39c348c72a phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f6d15518-3bde-415d-b043-e383d4ca46e0 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:ce85f1a9-b9c6-4aaf-b89b-10f263fca302 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:5a9028c6-afda-4887-b005-716f07ca30fd phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:fd2c1b18-cfb0-4103-b719-59e620576b29 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b784a351-22a1-4b10-a296-ad2be3c274dc phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f7fc91fa-642f-4d34-9996-45aecd8ea70b phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:13bb41fd-e402-44e6-b923-118e8c191ac6 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:79bce58b-1d8e-426b-a5e5-789efc1df76b phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:621ac93f-36a2-48e9-9946-818de0145033 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31548836 uuid:027253e2-f627-492f-8910-1dbf3880c0d6 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31548836 uuid:51a58016-bd90-446a-b328-55b007fb5400 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31548836 uuid:43da3bbf-a1ae-4cea-bec7-afd940a55c27 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:4172cdf9-8535-48e5-ad9f-cc42d3b3b9a7 phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:e1f07731-6877-488e-9d7a-b96a702e40df phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:81e95ea7-9990-4150-881a-7a5a4711da5c phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f0182bf2-042f-440c-8b54-1efce47a2a1c phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:f8ccb15b-fbcf-43df-8fca-bab6b5620a2f phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:51649c51-332b-425d-89b7-b0afb354b126 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:6e994b5b-5214-4055-affb-00618dd5c1c1 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:71ccc4a9-718a-414d-af83-5389be50f01b phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:c7f623cd-1743-4a04-b987-73f78781f340 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:713ef907-c419-4747-bc11-3454e265721b phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:ccaafa46-588c-4238-b44f-d7c9e61d1fc5 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000242 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:eed0abd5-4db9-4ce0-b3b2-e797ff6559cb phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:8692ea83-f109-414a-b7e4-32238f63b442 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:1d85cafd-6220-43f3-b0e4-e97f50db3016 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:2e855300-782d-4d07-85c2-a0601e5328ff phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:cfe86b44-d9f4-4e64-9607-27685b46f361 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0005259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:e7b34865-c563-4717-a796-95b91a28e599 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:b6f05581-6f9b-41fe-a9cd-a24cff657472 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:98766f4e-a25f-44b7-a74c-4f301f9011d4 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0006040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:686b2e8a-c6c9-49a3-8995-77287d420c6d phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:adfc7137-63e3-4199-9807-5a788da3ef0d phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31548836 uuid:7a0e06c0-48b8-4833-856e-0e4b2b710ee5 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:c3014581-d9f3-4876-aa40-9b79413461f9 phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31548836 uuid:60a6628c-59b8-4afb-8366-7acd7fdfe3cc phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:75a2dc35-1394-4874-b40a-890a17c585c8 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:aaa61ff4-eae3-48ec-94c7-4531e4a0d863 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:7abbd4ff-b56a-4879-9241-958d41b111f7 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:091b006e-e11e-4564-9d97-79c25ef9cfcf phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:a505177c-f43b-4965-8d38-a89d4fa29135 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:198d9ce4-8e82-4c19-a1cd-bd3e71f3fa6e phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0000270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:728b8574-ee5b-4bf0-bfae-6696ad73e656 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:2462ed8a-9967-42eb-9ff4-adfbc54a05c8 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:a25221b0-5d30-46c4-b8d1-a91ba266824a phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0008788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:71c375f4-d28d-42ed-8b1d-b49b46227482 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0002866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:71742bb4-a8d4-4ac7-be93-b225a3dd341b phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0006660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:e4492fd0-e1eb-49fc-981d-3007163dbc0d phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24966961 uuid:dae46af0-621d-437e-bd06-400ab0933d28 phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_disease OMIM:119600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24966961 uuid:374447e6-91b8-4ef3-bc00-9290ff5f63ce phenopacket.store:RUNX2.PMID_24966961_proband biolink:has_gene HGNC:10472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24966961 uuid:24874a04-2f3f-4257-9bb7-2861c06b6cdb phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:30296944 uuid:5da79ab6-726f-4191-b488-af58ea2a2d1c phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0031628 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:30296944 uuid:a86cf8b1-e574-4ef9-86cc-87bae23efa57 phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0034306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:30296944 uuid:76835e1d-3759-41cd-bc2f-39813e36bff6 phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0011712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:30296944 uuid:2189e69b-abb5-4705-94d8-fa18e16557c8 phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30296944 uuid:4d057bd3-f8a7-43f1-b7a5-950a26adcc32 phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0012819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30296944 uuid:5b3d349d-952d-4750-9cca-3b64c0d8c07c phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30296944 uuid:84e6e05d-3a92-4824-be31-dc12e4acac5e phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_disease OMIM:604772 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30296944 uuid:d18e8a2c-5485-4487-bede-6b7672018067 phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:has_gene HGNC:10484 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30296944 uuid:65d2cfb4-246e-423a-bc18-fa88106f2b96 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0100258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:28361c13-1904-498e-8489-355325f0d6f4 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0009944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:c1d7036f-ec70-4e3b-991d-d6b4903b1a7d phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:9d2ef788-834f-484d-add2-634d3e8eb1e3 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:2c14f266-2282-48da-b742-574bb050e0f0 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:d313ecc1-f867-48e2-91d0-981bb2cc7a28 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:ffe84191-ef61-406f-9fc1-cfb14366f800 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:498257b8-9e50-460e-8e2c-f1d7bc709758 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:21876fbc-027d-4a85-b1ec-2b7927c5d7a0 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:9552ff5e-3264-4e4f-a021-0558555caceb phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:c3d2b3c8-9577-4cf0-8e53-66187958b5cf phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:f24a63fa-7903-486f-bcf4-201153912986 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:301a1089-1640-4305-b32a-9eb6be7da309 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:50eb3d59-d1af-4a96-b49d-002723bb9dfb phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:94d35b6c-fd62-4727-8cf1-5a04813ff3cd phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29110636 uuid:b2f99c46-a053-4108-804e-f7568864d249 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29110636 uuid:21088f5c-816d-460a-a83e-521f3b6cf80f phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29110636 uuid:d1d73b5b-47dd-4a1b-9c34-2153fd0150c5 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29110636 uuid:efa8492f-3fbf-4a07-b38b-e17d20e1511e phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29110636 uuid:8b5c8c67-50b1-409d-8fb4-912d5835ca83 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29110636 uuid:028dacb1-21c0-4dac-aab8-f0e227db4ecb phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29110636 uuid:38a2de49-85fc-4fa2-ab8e-d7a425ffaf6a phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29110636 uuid:e190e125-6f98-41a2-afc5-1eda5286eefc phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_disease OMIM:107480 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29110636 uuid:dbd9c9ca-5be5-4299-8f64-83086d400171 phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:has_gene HGNC:10524 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29110636 uuid:7c388c95-86b6-4475-83b5-c93c9e27c14b phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:b1511ee4-35f4-481d-a416-cb54f39bae21 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:2bab5e3e-dc0b-4b98-9fce-2b68331853bb phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:11783216-286b-41f3-89ad-f71d911aedd1 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:9b2fe943-9bc2-48a1-8369-b61d228d4a63 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:1a819915-be1d-41c2-804f-ade3eec30668 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:79eab648-a4d2-4854-a9ec-2bab435ef5f4 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:2e5a8c15-8b60-41b6-8215-2522b04378f4 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P51Y infores:phenopacket-store PMID:38272031 uuid:18019299-de91-441f-8aad-ab2437bfe5a1 phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:188f726d-1489-4c73-b6aa-a9a55de881cc phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:b2d3a38d-c04c-4879-bb59-586ebd757880 phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:02059eb1-12ac-432b-be25-6326286c261a phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:1dfa6ce7-2f6f-419b-a241-1bee217a8ea3 phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:e837c602-7d24-48d2-ab17-63f39dbbbafd phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:73fd25c4-ff8d-4440-808e-bb1bf11dda3d phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:4315c110-f5ae-4c28-9660-a826e9d88482 phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:f733d88b-074a-42cf-9ce0-5f3fbd7222ad phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:38272031 uuid:fde94c94-abab-4b98-a1a9-b034a7a56308 phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:3dfd0089-330b-4f6b-b1a9-fdb9a88bb6fe phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:ec451b37-acd5-424c-bcb0-596e9d4083cb phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:d3fc95da-e2fa-4a31-9c7d-294356cdadd3 phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:884b4f41-f7c1-4c13-ae6b-5e233ef63528 phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:b1487386-4491-4e58-ba22-700ba821a139 phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:56e1d654-1bd3-44cd-aab5-3a2e4b45a6cd phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:f62fbb4a-97af-49fe-8dec-55677919d9dd phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:beacef42-b369-4074-abd1-9cd128f0eccc phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:38272031 uuid:85c61700-4a90-4249-a493-efc1f698124d phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:757370c0-79f9-40c0-aa63-612d1a61e15c phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:c17a7a0b-1912-4a7a-9da5-4282a73b63c2 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:a64b68d6-e9f2-4486-bfc7-a6fa39e3c203 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:af5eaa3a-9f16-4530-a476-b038ebe39071 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:9c7f5911-c5f2-4c38-994d-43f1b6ddf886 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:d6fdee1e-b5d9-4d82-a8e5-4fbdfb0b3960 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:7e6df030-669f-4b2a-ab09-a31fa37d9d80 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:1f46c7ac-a93d-4645-93d3-4358ef61c8d6 phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P49Y infores:phenopacket-store PMID:38272031 uuid:7b6ef644-9426-48b2-bdac-66c2bc8d58bb phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:ebeea9d8-138f-4e0d-b582-3f1de27c7e67 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:c3fe9ded-c9fc-4dc2-aae5-7eedf365f938 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:2d64bd5e-a621-4425-9201-ff15968060c9 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:8c09155f-bc89-4bbc-b0ee-e9f4a64b969f phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:4d684c5f-7376-4f56-8b95-632691136112 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:7a6972d6-babc-4237-a61b-8478a0fd40ed phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:cd36d2c0-ad2c-4da7-96e7-100976349374 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:a7a89d55-4ebc-4786-a68a-81b6d6d07a32 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:38272031 uuid:66420766-ef84-4d67-822d-69f9834b2104 phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:1c91cdf1-6eff-4c91-8262-0728ca58616d phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:a36c1c9a-32c1-4d6d-abe4-c531ef582b83 phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:83dc03d5-1c0f-4fb1-83ad-7bf5ad473010 phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:76f95209-af5d-46f1-ae3d-5b44c9733ebb phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:2ac791a6-9046-4a31-b457-67b527683ca0 phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:85dfcb10-be96-4223-bd0f-b64ead13f009 phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:28873301-914f-4cdd-8336-af1daf6ee343 phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:140d7560-edd5-4a21-8b9c-a8a0f34f284c phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:38272031 uuid:b65950e5-32e2-47d8-ac86-ffb749dcf3e1 phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:1a91912a-2acc-4c71-9c56-ac96fa7ea772 phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:ea8db4e4-d25f-4fcc-a48b-27af41199ee8 phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:216544f5-7f55-433f-bb8c-858ccdaf56c0 phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:52cbf926-e430-4520-ac05-89f34edb67b2 phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:b50a8357-c1ca-4e70-8e37-22361f2d8ecd phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:0f6243fe-4108-43cb-8973-e831071f54da phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:92e3035a-bc0e-4cd2-a265-b3ecdee5cdad phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:647bc402-f06a-49f8-bbb9-ba343caaae12 phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:38272031 uuid:ca068c3e-7d94-4e30-b065-2672e3abb654 phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:b5bad8d3-0da1-46f1-9f95-b36e17be4632 phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:1525540e-46e6-47f2-950d-20d32b7ca9fe phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0007401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:d6994303-fab2-456b-8b34-4e47738354f3 phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0007754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:a44b73f6-a9f7-48c9-894b-ef0eae13b77f phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0007722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:2961009a-673f-4f35-9354-57ffdd843492 phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0025159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38272031 uuid:c3852ff7-2b44-4a2a-a678-939eeafb3023 phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0012511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:ce137e0d-dafa-4c19-982b-dbe787ce1d8e phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_phenotype HP:0000603 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38272031 uuid:f97cf8ef-9339-48fa-8355-ba79d3ea2940 phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_disease OMIM:620762 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:38272031 uuid:d03d8057-af91-40a4-869a-aa93032fefd0 phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:has_gene HGNC:25394 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38272031 uuid:62bda81d-f060-4729-b38b-f059ed6fd7d9 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y4M infores:phenopacket-store PMID:29217778 uuid:eea26cee-a919-4ad1-86a4-2f21bc0461a3 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29217778 uuid:bd92a753-4f1b-4215-aae0-63e3296e7869 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:558a662f-74ad-4e14-8fbf-1105dd5ea8a0 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:1d309036-36aa-495d-9f0a-353c38171447 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:33fda1ed-a2f2-4cbf-9b9b-aa5fc6d5bc01 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:8752509a-88d6-46cc-9132-d84090887efc phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:5feecfee-9117-4026-ae3a-475e6c879cdd phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:5ad253af-7927-441e-800d-bb3f82eaf3b7 phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29217778 uuid:46af67e9-c200-46cf-8081-df115ac490de phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:f08ff648-a3ab-42b5-8ea8-476ed3b3df2a phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29217778 uuid:5af62290-acad-4a18-8bc6-5a7e45986a54 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:096528c5-6528-41e1-8355-ec6e768540b9 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:574b1e12-505c-4032-988e-5d953f9727f1 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:fc30e272-1d12-4820-9570-8a613e139ab5 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:cbc36716-1662-4a44-bf36-d3dd91c53d42 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:0431e79f-0a32-4d40-a0bc-655a92fd2d01 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:71a4571a-0e82-4382-ae27-8813b5060f73 phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:b3ee33df-6bb8-4447-9ab6-0dbd11d1a9cc phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:da9572bc-de39-444a-949d-7b61bf870da1 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28202457 uuid:0d02e894-5d6e-4600-a940-5c9bd90b7a04 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28202457 uuid:e5f5e359-8869-4d19-a2c2-71f8f360430f phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28202457 uuid:ff2baaeb-146a-44e5-9ab7-ace61706f522 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:28202457 uuid:445181ae-f55a-4562-bab1-e76db8227a45 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:28202457 uuid:d416cb35-a269-49f6-91b1-8ca891df309e phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:28202457 uuid:5623dff4-4203-4baa-896a-d9bdd12c9235 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28202457 uuid:abd9669d-c91c-4bb7-a394-c42101026a09 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28202457 uuid:72e6ae06-9e24-4a8a-a0b6-ce81675b663a phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:28202457 uuid:df4aea7f-d52a-458d-96f8-71d1ff05951b phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:28202457 uuid:78fa53a9-dd8f-4ff7-afc9-da218c182645 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:02f59554-6524-48a9-b574-cea0c470a77d phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:cfea58b3-cff1-4a4a-a55e-94e35e1ed7dc phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:5faaae05-a159-45b2-af0b-17d3f69b9492 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:e6de3d1d-3170-43cb-ae33-e64cba19f3fa phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:88dfb76c-1f0a-4b5f-acce-bcf1e2e6940d phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:7db83912-b407-450d-8591-39245ba887ec phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:b73d94f4-d1c4-451d-97c4-2224f5fcc808 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:28202457 uuid:2f05be91-ff25-4793-a8e8-07926a647b72 phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:ae84bbe2-6d6d-45df-8ea9-f207a4ee38ef phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:35310830 uuid:752e1d86-1c3d-4e47-b52c-481c60f47b2f phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:35310830 uuid:4f370793-e296-4c9c-a27b-d9dadda82781 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:8e7d5bc1-07aa-4bb2-ba4e-89ed263686ae phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:ec023824-6dd7-4070-8e0d-ac7b900f7dec phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:1df4ee88-62f5-4d1e-a4da-bee1083eff93 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:bc952132-99d4-48f8-aa4a-e525e91db65e phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:1abebdf4-df81-4418-9d22-fb6c34f5bc64 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:569c584e-ae4f-42b3-9b32-b840e48e9c37 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:9a0fcb89-30d4-4717-97cb-542c78969f99 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:9a4199f6-f8ba-4b58-b1af-d9cdda90072b phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:44b3ef32-40cf-44ed-9807-26e21da8f5a8 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:1bf4592a-54ef-4200-b7c3-966347785a84 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:5330eb24-5c32-49b3-b6b7-c37ce6ebce3f phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:c7b50154-0e14-46a9-83b7-4acb95897d16 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:d24b570a-48b1-4ab4-b29b-1fa8ab297c3d phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b3f8fc50-bff3-4f61-8dee-d3aeb99697dc phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:4aed7437-ae52-43bb-abcc-4ca5a36cbc61 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:836e1db6-b16c-400b-94f2-17dbf3bb3abf phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7ae84ae0-f9c3-424d-b6a4-b7b795da7daa phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:0fcad3b3-dee7-4cd9-a3ea-ce2833ed6ab0 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:2f054fed-bbc3-46dc-9f22-2afd988b0ac8 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:35310830 uuid:c519a8e4-ead2-4e98-8f4f-00b27123ffa6 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:6f084f75-d20c-48d5-9c72-509490086858 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27259050 uuid:63550958-e489-464a-9c80-ffb15dd29162 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0005548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27259050 uuid:e666c605-d886-46c9-b1dc-b27b6a2da3b6 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27259050 uuid:65c0d37f-3ecf-4373-942e-6a8497aa0b21 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0000967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27259050 uuid:0afda0fb-5a54-4194-abf3-6489e334fd86 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0031364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27259050 uuid:f98d1ada-c8a1-4df0-ac03-fff0190ad000 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27259050 uuid:1c956fbb-c05b-4008-a893-9f185d8822a6 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27259050 uuid:c8a7d06c-f58c-42fe-a8d4-66ed6f6df654 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27259050 uuid:d8d35926-73a7-4f76-aaa7-5b80348ab172 phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:27259050 uuid:af062dab-72df-4dc5-b4a2-9dd3cd07e78b phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27259050 uuid:b07a2891-8375-4c9a-aa7b-ee3cb26ed369 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:28202457 uuid:03d5d496-6875-482c-b461-eb628b66acdc phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:28202457 uuid:39aece9b-8015-4533-bf01-d19a3839cf65 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:28202457 uuid:17924c6b-2cb8-403c-a622-5cdd44df6c0f phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:28202457 uuid:212bde50-d1e5-4b76-8bc8-887464f1336d phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:28202457 uuid:6babd047-ee4a-4251-9779-2ed1877c0d9f phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:f09446aa-6f54-48a3-ab37-85a4be107006 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:af006c9b-79ca-47b6-bb5e-2ebc35aa9d72 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:ae61941c-ec3d-4172-bbb9-77dfb1c6aedc phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:e0ce2b95-4bfc-4318-abfc-af45d9a826f5 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:4bb11cff-d3bd-4889-96df-2805ec8e62d0 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:c7848c95-88dc-4fbe-92c6-e3378313f115 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:179bb87f-fada-4689-94d1-afc1a87f823d phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:3b920944-369b-4ca1-aec5-85f1e67d40c7 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:550c2564-2548-4b5c-bb48-0a8ace9c1b56 phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:e8f3f6fe-d429-401e-9e0b-37accd2e5dc3 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:35310830 uuid:6f039202-928f-4ad4-b6f0-772c1fdbcb58 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:35310830 uuid:3faadb56-debf-4724-866f-23b31565e645 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:35310830 uuid:f3ed8608-0324-4c9c-9c57-92056dc39507 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:35310830 uuid:c83ce1c1-aaac-49ff-8422-00fe9c02a78d phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:e12d61a7-188a-475c-9c2e-6fc6a3e7935b phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:edd9e0e1-a7ba-4cdc-9f37-4292f186f69d phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:ed75c4f2-8e48-4ac0-ae83-07ea894f9325 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:886b3747-06bb-4921-9fdf-16d8ef10e4aa phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7e2ab8c9-85c1-4a06-a9da-b6c805d16093 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:aadec968-650e-421e-91f2-dac4f4aa3609 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:134feb14-a3f2-40a8-88a4-1f9e41c13811 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:adac89ed-c4cb-46af-a5b8-60264d3b50c7 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:01ca6389-332e-4eb3-b885-a2da67b1634b phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cea7da71-0e1e-43d6-ac08-89ae2f96013e phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3c867cab-4aaa-4757-9bcf-746e3ec4b8c6 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:38e39967-24d0-4698-8780-5d74eb32acbd phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:d220ee3f-f6b1-40ed-952e-459b16299f5a phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:d78678fb-b45a-4fbd-b8a4-c178c7528b21 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:d7802798-a354-427c-97e7-017e60cfd706 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:0e22caa4-cd1c-42ed-9c80-6a7439956c44 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:77693850-a153-40d4-90c8-d7269e2352ec phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:f83443bb-60e5-4ad4-b715-5282aa51e135 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:603b573a-a457-4009-8411-73bf5371a262 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:35310830 uuid:1dfb6c4b-a062-4eda-997f-1574ec408907 phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:0004d304-f7f9-458b-91eb-c9109940248a phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:27259050 uuid:3de5e0bb-ee4b-48be-a007-2a39038abb1b phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:27259050 uuid:5a95c7ae-0015-4e9b-8cdf-d6c0a08817fe phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:27259050 uuid:08c2e0c9-deb5-4eb4-bd4c-3f3e6e2a431d phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:27259050 uuid:0c6600c1-b4c9-4ae9-90a5-99a7f9749f1e phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:27259050 uuid:a5360dc1-480f-4d62-8910-147ff9355c4d phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0000979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:27259050 uuid:4a385af7-0cd1-4022-910e-6f4d3ce12b56 phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:27259050 uuid:44ac08df-970a-4f98-a714-37a57932674d phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27259050 uuid:7204d984-c9c2-4ad3-b4be-8c503e267b11 phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27259050 uuid:e436513c-814b-4861-92b0-67fe62f8227d phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27259050 uuid:6d57ef30-2fcc-4217-ab49-f9df94e488dd phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27259050 uuid:537d6040-d551-4b1d-9e22-9ed3d99693ab phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27259050 uuid:3924f356-f353-49f8-b629-04c10d7de061 phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:27259050 uuid:9fd72ae4-8b6c-4121-9537-7685f9d3aeb8 phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27259050 uuid:62780c3f-0290-40f9-8a5c-3e5c1a9ce1e4 phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0005548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:28202457 uuid:29b5f1ab-685c-41fd-a114-ce6e3e30fa7c phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:28202457 uuid:8b3139a8-7044-41fc-aa98-506235d10b8b phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:28202457 uuid:890644bb-64e7-4899-a53c-56b7e52be513 phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:28202457 uuid:bc63970b-4974-4f33-afbc-e789d1d5d55b phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:cc0bad13-7d1d-4085-943c-ff9ed81104bb phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:211825ba-cff7-4359-a9e6-a0531118d957 phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:161a3524-760b-46b0-bca4-3c113dcf1240 phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:70e4b35d-330d-40d3-8c4e-02e30a3f1d30 phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P1Y9M infores:phenopacket-store PMID:28202457 uuid:7cc94053-192f-4cc5-b4fc-86b663bec9ff phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:63517730-5955-460c-9c7c-779bccab44f9 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:35310830 uuid:86885cfe-e2f8-4197-a264-7c26caaa228f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:35310830 uuid:10da3a2e-c1ce-45c8-8297-47f1c15711b5 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:35310830 uuid:2621a0ab-2635-490d-98d1-7f4bfe0aae92 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:f9c86e94-802a-40d5-b28d-aeb94b9dbfba phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:6f36c4c0-b181-4e79-8c69-bc8b28c3ab72 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:45ef443a-b00c-4a95-a48e-a8b1c75e013c phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:d582a4ef-a0cc-4297-8636-157e413b8b33 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:984c2d23-84f5-45fa-9f30-b5d681be3a29 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7f6e2ed2-2233-43ee-a4ba-d4ba347050a5 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:ef273c38-6dc2-41ce-9412-afe0a4da3f69 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cdbe8125-04bc-4f53-9191-ff2efd94d6c2 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:32682390-e024-412c-b152-9a9388f3156f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:5cbe16c8-1d85-478a-8500-1bf8ead2e83c phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:82302ec9-36c6-4304-9276-ec986c9b0ea6 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:62b2750a-ecb9-4852-b50f-d6c81143d2f4 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:8ac937e7-a9cb-44f0-af7b-2a9be9bd1821 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7850ec7f-26c8-49d4-a9d6-4f48c1bbe437 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:81b6a278-9270-42eb-aa43-3373e94d297c phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:075bd13a-f24a-4b7a-b182-cad5348992a6 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:8705645f-c3c9-40c4-b725-2b7b795bc323 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cb984834-36c7-4c65-8edd-723ab4b9963c phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:527f9f90-fff9-4486-8201-8f4e01e60445 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:af26ead1-3c05-4d46-b0cc-c76bd54f187f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:35310830 uuid:2896cd8e-25ae-4d3c-b11c-cce9b2a284c9 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:b41d3341-0d27-4125-8bfc-2e1fa1058635 phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:28202457 uuid:5711eab4-83dc-49c3-9dc7-d101cee6a6ea phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:88f2da0c-c22b-4ca8-9224-61330f1ba720 phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:70be1ca4-813b-4dcd-b5a3-b86129b4e23d phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:37efc623-8fc0-4bdf-9028-aba85079cab0 phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:81c91ce3-1446-4a3a-b29d-754db9be34e4 phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:ea9e476a-71b3-4ecb-be2f-e701e2ca4266 phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:8d27d0ac-7511-4e98-b2f0-2e2f7ce03b2d phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:16877f77-e6ef-4c37-ad59-2d751f3e173d phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:8b9c2863-533b-46a3-bc36-9305df0dd977 phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:14fa5e51-b649-4038-8c4a-6493b7dde11c phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:21a3f548-5b41-4fdd-9af1-dde9b564f6d7 phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:a5c89a0f-a80a-4c24-971f-1071d78d5a35 phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:c67fb7e9-f9a0-440c-bbeb-aa7da17df537 phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:4f515d2d-403c-40d8-bd0d-150aeee0b44a phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:7edf83c9-4563-43c7-8342-e248edcce902 phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:e136b74f-3a65-4076-b130-b9cdfd0dad9c phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:89fdecd1-4ebc-46bf-ba5e-09ee89df401d phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:8eac2429-aa72-479a-ac9b-7ae28e592271 phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:0e22828c-e3ff-44d0-9ca1-757ad2ccd701 phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:93a3e820-a127-4456-b0fd-7ebe98663b9a phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:27259050 uuid:b01ca462-e41b-430a-9982-53a0b7730724 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:27259050 uuid:a4567f6b-5c73-4552-a304-67b80e323078 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27259050 uuid:c22e2172-58bd-47f7-a26e-0469b630abb1 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27259050 uuid:fbf9131b-bfb3-4fd2-a984-08c0918a71ff phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:27259050 uuid:f4c3cb97-de14-4e20-9550-217a4e26319c phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:27259050 uuid:a4dd7b0c-e048-491c-b1c3-7b43f1275e19 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:27259050 uuid:058c78c5-8533-4696-9fb4-e6186200c843 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:27259050 uuid:2849fbfd-98f8-4edc-9efa-a7c3d179ca90 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27259050 uuid:a23e7e4d-ff22-4b7f-8c79-8a9bebed8c6d phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:27259050 uuid:8df0b490-473d-4f22-ab80-bcbd7fe98d23 phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27259050 uuid:33ba969c-bf08-46ac-86cc-b7b182c5a675 phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:60becc09-5875-4545-b010-fadb3c43f39f phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:ca18f4c5-a40e-4c5e-a164-df3f03a41ef8 phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:3baffe75-0e81-44d4-817e-e135492ff379 phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:50e9f3d3-5031-4e0f-b14d-198a7b7da66a phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:ca3b21d9-d602-4b77-8fc1-abcb9d0a6e00 phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:e07ccada-8e98-4ba9-80f6-366f76b572f2 phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:f65a3b10-a622-4d07-ae69-eb490b6aa8fd phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:28202457 uuid:0cf747a2-16fa-4bc0-b333-34c1b22aeed1 phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:28202457 uuid:96815720-f42b-4a0f-9d35-3ee13d88d989 phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:4fd5919d-e50b-4c4c-a3a9-e172a4cf6176 phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:1965184d-8456-46d3-81ae-7bfb1ac0d1c2 phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:2cf96a7d-3b7e-44da-a9a7-ebf31306da42 phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:7e597ba3-58a0-446e-8574-3e21476a66df phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:cdcdcd7f-26c6-4e74-a658-77971b498212 phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:bddfcc4c-f5b3-4b51-9bbb-b2ce9869a5ec phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:2a1fa0cb-7b8c-4cd0-a5db-0779c03b5696 phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:2cc0801d-0cad-436b-b8cc-362373ba0882 phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:6b7ae70d-4aa0-40b9-8725-52048a05ddcc phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:1bd49ea7-f5f3-40f0-9dde-3b2a656f292a phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:416327b2-95de-4f80-867c-a5086fa61509 phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:fb14d899-ec8a-4a52-a57d-ead1a39eef2e phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29217778 uuid:e7688f04-77f4-4414-8b74-68c5647816ae phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P2Y1M infores:phenopacket-store PMID:29217778 uuid:369be92f-7df2-471c-ad6b-416cad289a67 phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:4cdf18ff-24f4-436e-82a5-51e4b1102ecd phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:d3016bf5-8d6f-477e-811e-ef8b7d0c0d3a phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:cdcd6134-69e3-4d3c-aa23-a032549f2ff0 phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:c145df0b-9f46-417d-aa34-86b171b82da8 phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:fbb7d7ae-a2d5-4645-a97d-b28be5d7240a phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:ea38db78-0608-4845-ae7f-e84959ba6ba4 phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:17a19570-3574-4ee1-b895-be5c415cad00 phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:486f3d39-31c7-4f37-9cb9-c7e33a959d52 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:35310830 uuid:9f600425-bd28-4e9e-a0e9-83f473178954 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:35310830 uuid:96f7baa2-57b5-44f1-981b-d852e0635bdd phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:35310830 uuid:486f76cc-5f03-4153-af97-8411385e6507 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:7c830658-6aaa-4634-af31-367959dd4fe2 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:c826496e-f374-4803-a65e-1ebbc08f0ad6 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:d98c398e-df28-4d65-be71-e10a58d0210d phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:083eaa7e-88b3-4a95-bb53-e7bbc8120816 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:a1d85941-3d44-4e8e-b602-1aa8ee183f1e phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:d2a51b70-6c61-4999-908f-42b996c80836 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:d4838611-56f9-4412-aad0-4ebe80d46a82 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:a0061584-ddc9-4446-a463-13a79a2f20f8 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:1dc61350-801a-4a3a-8c29-2ab97f688b02 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:23439350-cf28-412b-b9a1-e2756b692cda phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:e360b6a2-65b8-4c71-98f7-389b390c7b36 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:887a0a36-f360-4eb3-af71-a55eb9e6dbf4 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:51f8cc11-0d1a-4964-82f1-e5560d79cddc phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:8731375c-f44b-4c3e-a7c5-3c0ad23a9e73 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3b5bef37-bdc9-4765-a0ac-eb91de72ee19 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:4030d5ea-070c-4347-9a27-c7a7cd11f8a4 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:43c90370-c6bc-481a-8a9f-514038b1a980 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:9abdc44e-0229-470b-8b2b-3547cfb672c9 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3c6a2e67-0951-4cb4-b41b-fc6d67681ee2 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7bc6b0c9-3b47-4ea6-9531-92b0aaad1564 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:35310830 uuid:97f4cc20-8866-47b6-82a6-6640f7d9c888 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:8a1eac1e-88cd-4b07-8edf-a4a24226ac06 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35310830 uuid:e770ade0-9f37-4fe7-af46-bd9e6eb765bc phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:35310830 uuid:faa4a8b3-0d18-46ee-8872-7aeaff845683 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:35310830 uuid:06c61b55-7d47-4c6f-8779-21eac3b3f351 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:bcf7ccb1-d474-4f76-849c-3d580689fe88 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:51d7920e-bdd8-444e-8949-dfe9097b3912 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:2cea4edf-9f55-4d4e-8fd5-39e645d9fd1e phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:ae14361b-6b5e-4691-8f85-288b91e64fe0 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:73ed518a-4f67-4ed3-8c10-2d77bec8da3b phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:26034bd2-3f63-49b9-bfaf-6aa3795a1f18 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:76a814ae-6217-46c9-a28d-15254335af71 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:93608bcd-22d7-4248-97bc-e12f311bd218 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b05423fe-3a04-40b1-86c7-3240fc15e931 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cd10c980-1ef2-429c-b2a0-879a5fcdddc6 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:fcf2a5c0-b753-41cf-85ae-c4ecfc85813f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b5a5a93e-349d-4f23-8590-9451c351db95 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:9656a58c-8968-4e67-a919-a6031241e26f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:a28b0a8f-bf4d-4cbf-95e4-35230b034e1f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:bb258551-23e8-43fd-a270-d06f2ae80c18 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:18191eb0-51e6-4314-88b5-26b9d05196eb phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:67732435-4faf-464a-85ae-ff1b76c4df4c phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:116c1625-5b84-4fb8-b71e-6c395e867883 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:a0692b57-e4ae-4aad-ac7c-7d5cf2414ed1 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:57c120c2-42fb-4162-93d4-c19889ffaea6 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:35310830 uuid:9d440103-089b-4a2e-aef1-bddbe659debd phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:6fc303e6-da06-4c15-b41d-094b9fe04261 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:35310830 uuid:f0567c89-b39f-4ec6-a90e-af4f59e3401d phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:35310830 uuid:3a07a52e-0117-49a3-a6e6-c294ff68ca9e phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:35310830 uuid:8259dbc5-3c41-4bdf-9bbc-bd2c4e29c0c2 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:01ad5e98-5813-47cf-aa1b-decfb270bc8f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:f5f7bcc5-5154-4943-96af-0f50dc673c6e phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:80938b29-db9b-49de-af26-0bf745795245 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:4bf65942-2444-4300-9464-65ce26d11e03 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:0e5b17ab-5606-45d1-b43f-7b93d0e58b61 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:44dbeaf9-71b3-43dc-b7eb-27ccb3bacbbd phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:221803cc-09f9-48bf-b09c-b61e786a92f7 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:340db8e4-d258-4776-963f-c164c193db4f phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:d90be75d-f1de-46bc-910b-8d5df41d0a9c phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:306174ce-be55-4fc1-bfa3-c664d255ee69 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3dd65aee-1beb-4f5b-9dde-963452182d19 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:8602458b-f5f7-4fea-9fa2-3c18bde0cc06 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:47952a9b-22f7-48b6-8001-1ff721e3fe26 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cc0da20c-d27a-4a9b-a682-339c07a7c410 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b031c5d2-589c-435b-99f7-620cf5484460 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:bb0b1094-6c04-45f1-ac7b-c21246c8f47b phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:51fc8fa1-5a2e-4da4-8fc6-f373f62d28f7 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:50ab9394-3016-458a-80f6-3c30fb713405 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:dab59df1-c59a-4cd0-b98a-b395db31ae27 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:dcee5c8c-6e9e-46d1-9f83-0802eb2dafec phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P58Y infores:phenopacket-store PMID:35310830 uuid:6490111c-7ca1-4595-97d6-808b8b1c3283 phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:dc0d41e3-6662-4a9b-913b-b1b312e643d2 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:35310830 uuid:8056f19e-d441-4f32-b68a-6e1b18400ff8 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:35310830 uuid:b4731f2d-eaf7-435e-b9ee-9ccf54fa2a28 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:35310830 uuid:debf766d-ccea-4ff6-aa7c-93ffb44f6816 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P78Y infores:phenopacket-store PMID:35310830 uuid:6536d882-dffb-4b6c-8279-b7b487e3f38a phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:b6ae6bcd-f2b7-4b7b-89de-fc11a0f7a0d1 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:0ca716e8-fa86-4928-ab02-372231b5f400 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:bec7d14e-e7ac-4d36-b98d-361567ade2fa phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:824d3931-50d3-4c33-8dec-7fc0337fe654 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:a538e9fd-4bd5-4bc0-b477-f185016bb60a phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:594327b7-2de7-45b5-94be-27e20247a283 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3187624a-ebec-421e-ad6c-8dcf5a806040 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:57b3d5f8-8f2d-40d9-9c52-f997bb56588b phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:57110978-4e8c-45d5-8f15-330771e55719 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:58860c5f-58d0-4ddd-a8b4-8051397bd73e phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b4c2b2db-4998-425f-822d-f4ab26aa93a5 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:04bf3f14-24bc-4502-987b-42a097d8ae2e phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7c694835-0de9-4073-8f0f-daea9586e841 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:e0fa838a-71f9-4956-b6a0-10d1f90bac4a phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:6dab2ddb-e4f6-44f0-b768-735face0299d phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cf936ec2-c509-41f2-9e54-a2de124d7dcc phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:a359fa25-ce25-46d9-9f87-115509936112 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:35310830 uuid:c860e5a1-0564-4513-bf3d-1d019f14c3a0 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:922c6319-ce56-4be8-88de-c5ee48a72dd7 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:35310830 uuid:20af71ba-ce7c-4b2b-bf7a-5004499422f7 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:35310830 uuid:87c2d9a9-dc61-478b-ab2e-f788746bab32 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:35310830 uuid:713b2c35-f455-4c96-bfb3-051cd8ed0a7e phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:b819fe06-58e1-4f7e-97e3-9a97ac55bf5a phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:36bbdfff-9510-416a-a323-da216e9438fb phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:da9f330d-1f50-4192-b8c6-9df1645e2a1d phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:8482a697-3717-44d1-a366-ff3b59b65669 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:a9fb4bcb-4f83-4c32-99b1-6b79956791f9 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3919d008-47fd-4d87-b5bd-29e4eb849fa5 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:c7e2341e-7c11-4136-ac40-36482ce7a5d8 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:0e43840b-ab75-4cb1-9e74-46811f271d8f phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:0624ffaf-f429-4c16-a0a4-e593ad03dadb phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:0e2ad034-3ed4-496b-bf1b-a6b00c4f27dc phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:ba8c5008-81c2-4cfe-8194-95f5fabaf4a9 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7054fa88-8c85-42a0-9c44-2d89b5a31120 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:3e3cc882-8238-4dcf-b696-e392765079f5 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:23823a6c-ea4b-424f-a8e1-db75daa725cd phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:4e550635-843b-4266-998e-0b5bdd0d4206 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:1651e3e8-3607-46bc-942a-ab4929de917b phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:7d5c85ec-30ff-4a66-b7e2-c00fe0d24eaa phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P58Y infores:phenopacket-store PMID:35310830 uuid:9765e792-f242-4dda-8efb-175346dac52d phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:fd93e478-8f7e-43f9-ad2b-bf7063c56f1a phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y7M infores:phenopacket-store PMID:29217778 uuid:bfb1f96d-6f30-4f21-ba69-71d269f7746a phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:bd045d30-8bd1-40d7-836d-10b875dda9fd phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:c01cca8d-d0f4-4b85-84ac-b8980e303b90 phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:170b8a32-ff60-4977-a3c8-23c2ca53a588 phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:53d72ac7-6975-4269-9b0d-497b2f2adce4 phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:abef897e-0585-407c-b043-64851375f3a6 phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:5901ffec-1e5e-497f-95dc-d85447877ad0 phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:9acb6055-08fd-401e-b1be-602ea5de9755 phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:57e034d8-e99b-4cee-ab58-3f8b1044c2e9 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:28202457 uuid:d389ccd2-b92f-45a9-8bc3-922e03bfce8b phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:28202457 uuid:f431c215-4e08-4008-957b-bd55542334b9 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:28202457 uuid:9fdb2906-6f60-4131-8ac3-b6f15658e631 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:28202457 uuid:8faf9c33-34f1-4c6c-a7a2-16aaa30c7439 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:46002f2d-a258-4bb2-bd87-fed9c1c584e3 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:494c8152-aa8b-4288-ba03-de6da3810ee1 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:09d69266-eef5-47c2-a84f-ca3eb1b9ea7c phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:9bcd3e63-a0b1-415d-9aaa-45f6810c8bb9 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:d8226d8e-159d-4be6-a629-1b198583f2b3 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:afafa413-4c3b-4b7c-ad36-7517e2e71bd3 phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:84e1c306-4397-4374-ae8a-2919d644a936 phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29217778 uuid:223ebfb3-11de-4e7f-9ed1-11436a8dbfe1 phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:29217778 uuid:5bf698f2-80bb-4870-b500-ab5082efd016 phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:af2803f2-fcfe-41cf-ae5f-81c151c6cd27 phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:f9d0e2d5-8c07-49a4-809a-e92d0da5c540 phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:b9f5d4f3-a480-42e8-a7ab-206df5ed96fc phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:184c3235-89e4-4e46-8b7e-74be4ca281e2 phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:29217778 uuid:902138b7-715d-48d8-b939-f048c755a07d phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:4459f7a3-4b59-457b-9169-763b0d35e775 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:33884299 uuid:86af708f-596e-4c8e-8925-a87debfd46f4 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:33884299 uuid:3fc2cd1f-9d96-4770-a48f-1513233a7c86 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:33884299 uuid:03adc0a5-6349-4644-bc40-e145b781a0f3 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0000514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:33884299 uuid:f1398ea8-76f8-479d-a3c0-fd14d83740cc phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:33884299 uuid:15bad11e-4a7f-4815-94ce-888237d21d31 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:33884299 uuid:fbf6bf10-86c3-42eb-be8c-0b102e60cbe9 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33884299 uuid:b9e7b405-71c5-43ff-9d61-03095e808f79 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:33884299 uuid:ffa69719-e1c6-4b74-a76c-74ffd52a4b21 phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33884299 uuid:8dc2dab0-9f52-42aa-a87a-48f933fdc0da phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:27259050 uuid:eb63a628-0581-44b5-81d7-2482b319fd1b phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:27259050 uuid:9024201f-654c-4dd6-86f2-7526ab3f3cf3 phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:27259050 uuid:da19a96d-7dd9-4a7d-a32d-e5150ef9b57d phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:27259050 uuid:9304cd20-7283-4f7a-9e91-f023863fe846 phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:27259050 uuid:4f17fe26-4c56-4435-9220-516d39d9b36d phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:27259050 uuid:df27d39c-d47f-462f-b665-481250a48711 phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:27259050 uuid:8cdd306c-d1a3-4ad4-9677-431ec470c2e2 phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:27259050 uuid:1a43337d-79cf-4264-8b13-ed9722c2f7d8 phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0002936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27259050 uuid:7a30426f-70c5-464e-8018-e1f8ce8a3e0c phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27259050 uuid:99a11538-034d-49ae-9511-e397e267631e phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:27259050 uuid:94bcde14-68fc-4f74-b93f-0d387aa7485a phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27259050 uuid:f5f80d90-5164-45de-ae2b-7fe2d4acd738 phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:28202457 uuid:66b6f009-2a69-43db-9633-3682a4102aae phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:533622ce-283f-427f-a3f0-b6df8c21d1d6 phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:d22f763f-befa-49c5-b149-e14a501079df phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:b622b2fa-f2cf-4a20-816b-1a70e6268dfa phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:9c8b0310-53c0-4c27-9cb2-f497ffbea4d0 phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:28202457 uuid:31c4e3b2-e7a8-41bb-8872-a2ee81cb5ea3 phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:3ed0ed70-d85e-4c97-b8d3-abc006ab9301 phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_phenotype HP:0005528 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:f4289a6f-10b6-4b21-ba30-c776f44f8b40 phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:87876575-60b9-43c9-9979-6b47d1b2fe12 phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:f532539c-d3d2-4d8a-b996-09e74c31155f phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:1d510765-7b0f-4e84-b3ed-55bf340bd129 phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_phenotype HP:0005518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:f770f9f8-a003-476d-bda0-1ff643ba0479 phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29217778 uuid:e308314a-e91b-4cac-b4cf-3e8919780469 phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:e054eb15-b969-4d9f-a71c-a3350440e2db phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29217778 uuid:358e32d6-ccd1-4082-b447-c757820847ec phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:35310830 uuid:7b460c27-8655-40e5-b61c-dbe9dc9cc0c8 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:35310830 uuid:7342d582-256e-4da9-913c-2bfca89b063d phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:35310830 uuid:9fa4ca51-c3f4-4782-9a5b-4dd4a23fbb26 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P75Y infores:phenopacket-store PMID:35310830 uuid:3bd8d523-8b0a-4967-93dc-327646bed355 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:e4ec292b-90de-4640-88e9-d26c86843e78 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0007979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35310830 uuid:c1b51c16-b6ef-45e1-ac2a-acf5a4b3e556 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0034773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b7406b64-65e1-4138-8c69-62addb6e5e05 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:f8bc7794-9f8a-4ebd-90e9-4d9fb3c79062 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:1f679970-3dc6-4a36-91db-b6ec31a73703 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:bb57527f-65ef-43c7-9307-1c1ef67ecd20 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:82fc2ada-3264-4f9d-8dae-d74505f6a192 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:2b252ce1-8c7e-4eee-bfe1-5ef3ca42575f phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0002380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:2bb15bd8-7907-4865-af9c-f5fc912e2323 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:22b7966e-dccb-415b-a9bb-145867b472cf phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:0c7771a3-f403-43f4-8d5f-67281cd9fa2e phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:a371d011-c4fe-48c4-af85-037e474ec2b9 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:24f0ffdd-f063-46f5-9f77-9aa12a20181a phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:d9640582-d873-49e2-9446-86e3c7f7b76b phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:b08acae6-1f5d-4e9f-a49e-ef00d1d8775c phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35310830 uuid:cbe93ab1-74b4-4a85-ad73-4077711aa1d6 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_disease OMIM:619806 biolink:CaseToDiseaseAssociation manual_agent observation P60Y infores:phenopacket-store PMID:35310830 uuid:d6304f02-cd13-4d4b-972c-2c7325b8e5f8 phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35310830 uuid:e8b72efa-eb78-4bac-adc9-2552dda392be phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0002863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:28202457 uuid:c9740897-00c5-4ed3-8a63-da3181704304 phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:dd782c88-d5b3-43e9-ba3e-a0a4c6acc9f4 phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:063a869c-110c-45dc-a293-76e6935628ff phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:27c01b2b-70ef-42ac-8cee-242c49b57a58 phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:ef8712da-4b03-4e72-936e-f1e0c92e9242 phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28202457 uuid:ebe94e20-7a2c-4918-92ea-879c2f9aee2b phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28202457 uuid:90bd2eaf-6547-4e29-a010-9522f66774c4 phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_disease OMIM:159550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:e1851a61-de9c-4571-a075-a0323ab65f2a phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:has_gene HGNC:1349 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28202457 uuid:7ea84822-eb3e-445c-bbb7-25dc9a2acd9e phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f3d92e5c-e45b-47e1-8782-6850ed35bd66 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:17028d90-fe83-4093-ab79-00e1df93e600 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fcd3d74e-dc5c-4798-aea2-938d52240afb phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1cdfade5-6e4f-4a60-b4ba-f6b02bb41859 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0144d534-194e-4270-a2bb-dc628e061ea2 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2aa7f957-990e-4519-9af1-1705c07bef8a phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:71d389f8-c20b-4382-950d-067506501814 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:73a5ebf2-e36f-4ec0-beab-ba55448d89be phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:eb9ac5de-23b7-4ffd-85b0-7322b3ff54a3 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:376d1297-8351-4700-8cf3-cb1e5000b4e3 phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:bec98ef6-1958-479c-a629-aa1f3b14335d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3eb417cf-93a9-45b1-8897-97e6f2d8cf2c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ae39ce54-474b-465e-8e76-c9661bc82f93 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:25539062-9662-43d5-9165-859a615100b2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:487d8449-2ddf-4ffc-b4b9-151ad6e106eb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:321915d6-99fa-45a7-8099-db8c476c8b7f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dd4bf13c-c79e-4d54-8e90-d29bb50b2989 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bed6ca98-8a1b-4b0a-9bab-3ac186c8ea9b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:06542574-bdea-4c46-9d85-e070f01f1ad7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:457d00ef-e3d1-4fea-9177-999d540c3f1f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:02accc2d-36f5-4a65-b602-28591c349f68 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:404d3ddd-fdde-4078-a994-d0199c45ca05 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5dfb82de-95fa-4ad8-8c63-5b7ecba48a0d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:adb3f4ea-728e-4468-9588-894b05feff03 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c637a737-bd52-462d-8d2e-98fd727ca53b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f6d08bb8-3b0c-45e2-bb72-aac4abc57c13 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:45fbc99d-e4e8-44d1-8bf1-7e9cc710ca36 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:865d6530-9b30-40bb-b1a2-3ee7e2563da5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a10b7462-69e5-4a3d-b56f-f38f067c2777 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:288ee43a-f74f-4c57-bfd6-5a90dfc44df0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:63bed390-826b-401a-b730-a0b64fde9526 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3f362b50-d0b0-4ca8-bb36-75bb179af841 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c4dce033-05b3-4d98-9f78-7a1cf3f175bb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:82b2d03d-ded0-4b83-bd5d-f2cb624a1989 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a591dd92-2bcd-4fe5-ade0-08f852e1e976 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:25404799-85d8-4870-aafa-2131c9f3ed81 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:87cd353b-ea1b-4c61-a4da-4db2d8b2b6b6 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9ace88fd-065c-48e0-9307-2244d5ef54a7 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a7ff024f-9078-4e33-9276-b7171d1f782b phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:677c7d6c-576e-4596-bf1d-62a3068239ea phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:17f33016-c047-4a0b-b68a-fe273dbe8d97 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a01a5762-005d-4a16-b7d3-ee2324c359dd phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c0da0aba-15a2-4c2c-b5de-2787457b7218 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4e244179-fd59-436a-b5ae-e12332fac220 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5847502f-b9be-403e-b84d-d74192e59db1 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7bbfce5e-9070-4634-93a6-02b04c49e9e7 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9e7ca281-9366-4068-9967-7c5519638111 phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2f9cca09-c0b1-4048-9335-a5339e00f5cd phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fd545633-7ae0-4f11-b877-b88fac23c987 phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e7deceee-de91-4da7-a0d8-bac68a4f1e00 phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6ffb1852-20f4-4d0b-bcf5-0db43669a5b8 phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d8880126-6a69-4440-a042-f651d71e12a2 phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ca09c803-2471-4285-9c48-06c2817a0760 phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9f6e558c-9a01-4fef-bc0c-1314ef4bbea8 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8cf48e4f-7bf0-4ab8-964e-b5d4de997f4b phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dea2b1da-0984-466f-bb7d-f79a7f987752 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9eaad608-4f25-4d49-82a2-2d01b29a8db6 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3fb3d723-6ad2-4f6c-82e1-43e561bb50bd phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:043ac93e-ca7d-40c8-8400-db694470bbb0 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d9150bd3-b3c6-4107-9e34-12b768b743c4 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:54449252-db83-4f56-825f-920f034deb98 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:60a36a6e-c569-4d8d-b78b-239967def9f8 phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ead31ae3-0dd2-4611-b36a-b0c3773c712b phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0eef162c-a349-44d9-b0dc-5ccda8fdeba4 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:235847c6-d92f-421b-b0a7-a944a9aada55 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b811549e-9eba-4ed6-802c-c59bfdb20225 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:78844aa1-a36c-4601-aa15-344d38678bc8 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:198b17cb-a1cf-4de7-8593-2f398b622a54 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ac98c5d8-e9df-4602-beb8-3ad752180f43 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:52d685ee-35be-4b08-aaea-058e4e6e6cf9 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1a5929d3-fa0e-4659-b16b-95d1faf9d7da phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d1b94e72-5a22-416e-9d78-989850a19b78 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9f6439c0-ef4c-4dc0-89d8-37b5d5435279 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bf087308-d527-472d-b06e-e670bb8b780a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:95a3152d-c37c-4fcf-b689-99cfed91ba19 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:db62bee2-0fec-42a3-8c09-54ebd0f23355 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1c2c14ed-6a65-4ab4-8320-4f5bb77364b8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e5c4319a-f02c-422e-9954-3accf5b722b5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b0a1c14c-310a-4243-8f60-c5aa60fcbc37 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e8ef79e5-e08a-4c03-a825-cfaa1de492b4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0fc94885-3c72-4622-9160-5549d9d1443e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2897b92d-a9c0-4007-9bfe-63b7350f0eb8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:08f48ec1-322e-48b4-a683-57bb09d11057 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:09908f8c-f8cb-40a1-b730-f46d2b0b2ae1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f0f934a5-4217-47c8-a977-a37a347b7f5e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:46d8b76a-55a4-4b6b-9267-3bf9f71f4d06 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c31530c8-6405-4a5e-87b6-1a87ea2d1197 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ddf5073c-2389-4ad5-8c74-9634cdb3c4df phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:05c6c2da-53f7-4de7-922c-3456d5d319c9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7d7b1e3a-9059-4c46-baaa-0006f4f9ab42 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a61ad00e-7d92-4590-ba60-de2595980b5a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:02684071-2b51-4008-b58b-456944d40b51 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d32c1647-6b17-493e-9f68-f83b0bc0953e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c887c81d-4558-4f10-aad3-46be4a1a5d4c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:21612575-fb39-42c9-9639-db9de257d1c2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5fecb2ae-7074-4cdf-bd79-2d6dd46f1864 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5648b643-2a64-499c-a337-c7977587ca85 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:140e9dfa-8697-404e-83c2-d2882c5d46be phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:982ef839-6d43-4579-a5dd-24d93b7f02aa phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cbe5c590-5ea7-4e49-b439-16ad6f5d7aa9 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:695309a8-a2a0-483f-aa03-ac6cc6dd8e5c phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:77a20d82-a4a9-4c4e-8b85-db30388097b8 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2676200c-57a2-49d8-aba3-390b0a15d712 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3cdb2cf8-33d3-4291-94bc-40497cec20d7 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7b55cd32-735d-4a3e-aab7-b4fd369e0a8e phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5af9272e-9257-4b6d-b655-1524ecb99605 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6e27f8ec-2669-4981-b997-5f6467f21db2 phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ce0426c4-f0b5-4b50-bc20-ed464a8c5f0d phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b568e781-b704-4a1f-9254-a03c9dc57ebf phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8d6b7dde-9e01-4f48-bf56-4c85b7671e00 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:49b06542-8622-4e5a-9008-f17554441cd5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c6591135-fbdb-47f0-b788-d1e7bb5814a6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8807a8f9-8b20-4626-8a12-6b56644e6226 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:181c357e-ccff-4165-bcfa-88abbfa03047 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c1723886-1d76-412e-8d48-9c87d7e66d6e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:11017b17-533c-4b10-8a06-9e26896aab9e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:899bfa62-e38a-4c4e-94b8-f1ccdf56f19c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:145a544b-0bcb-4afc-8507-dd4b5a9943e4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f6773dca-224b-4a9f-8d4e-9a0af4d6f1fa phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8dd2dc21-5fb6-4b12-a091-50c0adad2360 phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d3a523eb-1a92-4f65-8e5a-b3f129333683 phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e5c6e65b-0cb1-4e46-966f-362a0df4179c phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0444bc4c-069a-4f3b-9acb-640fa8a55ed0 phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5f381a0a-ecec-458d-a761-460ab3c6f09a phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e73e03ef-4a17-4094-b304-559ae19f76b9 phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8a4de9ca-e5f8-4a25-bd2b-3c22d3843d1d phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cb1d69b3-c6d0-4959-8572-7b893228b28d phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:67e82fd1-56a6-4d7f-b1db-d56235babee6 phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:4bb17c61-1e7a-465d-bcf0-a84307c90586 phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:861b97df-9a3a-4c84-89a7-ffca11f76752 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:703481dd-3c97-49d3-93d2-fe55f051a4c0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1185cf4d-4c3c-436c-a904-510e988ea52b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5ee70e62-46da-4206-8cc6-991fabc59b9b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0ce67879-73b0-4b90-a639-be9b1d762d06 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1c920206-a2fc-4f75-8d20-df21d33f7a8e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a254b704-5450-42e8-9359-f62982f12931 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9aab98bb-3e5b-4507-8f89-662809e0cd1a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cb93f103-5ade-4007-b16a-17b20e637e87 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3dca717b-10c7-42f5-84b1-51231394f319 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:813783e1-b3d8-4ad8-a884-e5d9e5588582 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e7e178e3-a44f-4c02-8e2d-dc35fd25f3c1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2aaad27a-3c32-4358-aeb2-11eba07035cb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8c70c29b-a547-498c-8384-cbef7711347f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a689b50d-d143-4792-9603-f50c3ecb31e8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4a181909-8864-4897-9063-4d5484770301 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6ee76111-518c-43ef-8260-02d1b0803c71 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:fd4ff17b-c7ef-499d-9c68-ad5be48c0070 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d686251d-8706-4e9e-91d8-7ab69c80912b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ea9e031a-42d9-4697-b908-7cae4b4f74bd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:70722e94-f8ba-45c1-8acd-457ed91bd6c6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bd0e6106-14b5-45ab-8a00-2fe7cbace8a7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2f83c4ca-ee49-45a1-800e-38adc624cf3f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:792a427b-510c-4ef6-9561-3d31578c438a phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:10a166d1-c7e4-4ebc-9e25-dacda1cbbcd3 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2aaee3fa-08b9-464a-b3c8-34e6c72cc359 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6ce3dd2a-df0c-47aa-b6c9-352eefb68289 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8cb282e1-62f1-4c13-b8ec-4bc0ecb3ab74 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:618c8fdc-eb82-4f42-be0e-79750d434093 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:79cbf2da-2403-4a2a-bf5f-a263ae07378a phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7d811e23-34e6-48f3-9a09-74825e7a544c phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:47091451-6b02-4eef-a82b-7abc4e47aaaf phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6b000385-6c80-4cde-8c90-c48d7021b9b7 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6f142677-c212-4a52-9338-d897830da3f1 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:bc551a97-3565-41f0-82d7-bbd5b2c692e7 phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:185acfc9-32a2-44c3-a0ee-d3c02d92cb19 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:70c89727-0024-4eb5-9bea-32009bba3a62 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:28fe17fb-5165-49a3-9bfb-5f5548110770 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1e945d57-98f5-4489-883a-d4c2d5abfbb4 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6932394c-13cd-4166-af10-b4e766415491 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c35f265b-61f8-40c4-b645-4c25c65e60f1 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:07e967e6-c388-4616-ad3c-64185f019ab6 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8344bef8-7362-4bbe-8e90-b56877172556 phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0cdb2ae2-6f88-45a9-918a-38ca679d6b69 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:180f20e7-5c1d-48a4-ba5a-44872b680bd1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5497f3fa-8e46-4c7d-a282-b5baac1ef84b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f8612e42-cd4e-43a0-b396-b4ed9fa2d372 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:96016b56-1e50-491c-a559-19573399c201 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:19427371-ec0c-4979-bd6a-c3571e80b16a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2050d8da-10a7-4086-9fe6-a926ef39ab82 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ec2e5b65-5699-47ee-ad22-fa9352d466dc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9a428092-d8a6-490f-a8d8-7f2c1a0ffc81 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2f9241d8-13e0-4f66-be48-9a60b0cf600d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:832804f2-0b32-4d0c-af76-ac7bfb94a4ae phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:481df5c6-a249-48a5-9a9f-0bcb28eaaaa7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:aa8c9a36-98d5-491d-88f9-a2fdb047e479 phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2f25c065-5272-4faf-b168-927859a82906 phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ace1bf01-6674-435e-b64d-370bba642dad phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ab416937-61e4-4260-819f-8f6204992161 phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e74f0783-8ff9-4170-833e-531e716396c0 phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d68892c0-025b-438e-9688-90adec6b4e0d phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a2160dfa-0cbd-4c54-9d89-ce0de2f7a9ed phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a1d3537a-d419-4702-898d-0a66052a6d5c phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2eeb07e4-02f4-4918-be05-673296689bf1 phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:dd05c5d0-a0c0-4738-b290-db48159afc2d phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f84ef3e3-5dfb-47c8-9938-3c66141c58d9 phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:59d92d79-2717-46ba-9c90-510ef47cae9c phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:19c55117-6c5c-4e69-98fc-c2847b2b6ab7 phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fbfce953-c215-4f31-ba38-27d0833cfc23 phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:20af3d79-8b44-462f-b86f-2428a93c9482 phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f5b4a20a-7e71-45f2-bd92-fb335825c34a phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2e6ade29-173a-4775-a632-2141b0a10622 phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:53f97965-2f09-4520-811d-3ea7748aa53d phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1040dff1-f056-414e-b481-a3143a689065 phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:66b192eb-4a31-40e9-996d-4f4693bbf77a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c8c64732-4344-4932-9e7e-4f8a019321a3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8ef5e5ce-410d-4dae-85de-ea33882a1b6a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3227e335-d944-4292-beee-ebfb7c44998c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e1b8357c-48e9-4a30-ac10-0e7f46ab876b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:60849ddb-181d-4a4f-8cc5-52ce4317ba66 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e7bbf6ad-4d52-4395-be56-292a7f06a3b4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5e3a44ee-4637-4c29-bfa1-5c658af28dc1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7fbf599c-f943-4c6b-a8ec-7c4ec744db28 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3ab9329e-06f1-4358-986f-cbf76376be8f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6f4094f6-6cd3-4af5-9a28-ea6e37ce6d05 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d8db3473-2baa-4e72-a761-4dca945dfa2d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:dfc99705-6783-4ed1-b68c-15e9489b312f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d42f8368-ab2b-4da4-8b53-9b0f071e9218 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:66c9f245-881b-43f9-b9d8-96e8507cb4b6 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a99b6e32-6da8-487a-91bd-48a7b4c15d1c phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b2410f47-a0a2-43cf-9670-96ea2b328377 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5cab6455-c14e-4ae5-955f-c0817961e6e8 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:285d8361-1da0-4c0d-9c40-c2c9fccfd6d8 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:567d5897-533f-4718-98c5-9bfab6ceb17e phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:36d0306c-7ec8-4d9e-9850-5d0f7fe403f5 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c892018a-5bf1-405d-8904-b0813e852474 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6d2ad1ec-1a62-40f3-a17a-3b125ace50ef phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ef025ac1-775f-4917-963c-04ab1c2b7abc phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:906d0eb0-223c-492a-887e-972a874bea07 phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b94a255e-d79f-4c17-a6dc-270422a41b7d phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b4241ed2-d211-40a4-a96c-bc8f83eb238d phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:52588745-c2e1-4868-a288-b27b07c06aab phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a2ebc420-241e-494b-af23-a480a9fff250 phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2e331df4-33b4-4492-bb08-0307e249a2d4 phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:47c22e86-e877-4ac2-a504-863ee3fcb5db phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b73ab098-af8d-4af5-a3c6-aee338030838 phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e9361c49-8a3b-4f83-aae6-0ddf1696d38f phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d6e7ebf2-b1eb-4f65-b9de-a7ec1a7496cf phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:51222ec6-0044-4151-9c4e-48b359f1b547 phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:824a305a-79bf-4b7b-a29c-faf1136329ea phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1e060dc5-3ab7-4c69-82d5-fb556a1eb150 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8e1375b0-ebfc-4758-8991-109ea7dbbd7f phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:91a8333f-fa24-4c44-ab9a-1200b4062a82 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:03e76765-25bf-4772-8528-8f44ed6363fe phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f4c50378-375c-4370-92a5-9135af9aacba phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b652261a-c66f-4d5e-a839-e95b0eb3f482 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0428f9fc-674c-413a-aee2-3bff6de8f5e8 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:83bf5688-9edf-450f-bc86-fafb4a4a0a46 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:426e5263-eb9c-46db-b080-7d7cd32c6352 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:08e312e3-f0de-4355-af93-0d5be19d2aef phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ef0c5543-defc-4e20-aa57-1c7d82d51a11 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:07b00cf6-0067-44ef-b202-077206cad025 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3d94b7f4-67c5-4d67-9e71-c6a1d67e4bb1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1f1abac8-f3c7-4875-ab54-8e8bb7a6a2ba phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9cef5165-934c-4e88-ba9a-53cfc9ac0b5d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5ec9b904-0c36-4e85-891a-1d4ef3a91788 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7b5f7e9d-77fe-4e10-8ab6-bc8a3ff62dee phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:de4bd983-5a00-414a-a3f6-1daff3b277cb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8e3b6e63-a757-4ba8-a412-6d76dca54526 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d521e776-e456-4c14-98cb-d3cd99ca2800 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f52f8db7-8b72-432a-9f15-645b8d6302de phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ade5285d-854e-448c-9346-93bf55e03f95 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:57aec63a-d389-40f8-984f-d3debf00d281 phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:285bb22f-be89-4acf-bfcf-ed45e2ed2fec phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6316511f-e879-4f81-aedd-563fea5cc399 phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2116ee55-e283-4c3a-add5-7e9089d3d0ef phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4db2c9fa-4bdf-42f3-97e1-baec838ac29d phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:702c64b5-cdf1-4b1d-aecc-ab65c50342af phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7d7e6cc8-1373-4a28-9e85-b58f3256228a phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c5e9ed72-943b-42db-8dea-6e641554417f phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6b8fe711-ba2f-4909-8adc-17619e0f50d1 phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9ba0aa75-b8da-45d8-a0b5-b8517a4bcd65 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:179e632a-508f-4737-bc2b-6c29a6654422 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6009afa6-fc1b-4f46-9185-56c0374fe4b1 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b6261b37-21fe-4b00-a893-0acd89a4b3c5 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:90b6a9ca-0a63-4c95-84c1-716d1e02fe69 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:379f2c4a-3904-446b-90f2-e383f2145920 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:258090ec-7245-486f-b9e4-b7041a54dddd phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:02e742fc-3aa3-4951-8ad2-ed95f30b9b3b phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:432d8412-a939-4309-a599-06c93664b493 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f00e68e3-0de2-4944-9dcb-d2cfd713d414 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:18fa7754-1461-434c-b807-32dfd5de9133 phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5f89c004-dd24-4513-b5ec-cb5a064ff2e6 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a60aa9b8-d730-48de-9d04-088c6e75d2c0 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:417cded7-d396-4896-8eeb-371202618828 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9d77149e-5640-4b84-9369-2181f8520993 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d0352698-8318-4ca2-b665-69cce1466b03 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:12dd2398-5fcb-4040-a6ec-86e07b0188dd phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:20160f3e-280d-45f8-ae38-1d8104ac81a3 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e3633e9d-5103-4b68-9be2-72883df70500 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9bf01e37-69a8-4bc9-ae7c-9e111cc79156 phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3c6e7b25-d374-41d8-bda3-3441c8d5fc86 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:824a9a65-cd14-4d41-bf9a-a485e1b9aca0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:37b26602-fa01-4a57-af36-b9b7f2bf642f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:44476e6f-5257-43b3-8618-2c8f6aa8a487 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:02d64a90-33e3-4eae-953f-b40e1b372ebb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:631abb60-391b-4765-9175-96b9524814f7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3f819ff3-653a-4e1a-85c6-0d064b79f968 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a3cd142b-e798-49e9-8fdc-09fc690a93e2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8383dce0-616a-4fa2-ad4f-2842fb94704c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:90db89dc-afbd-4207-9947-768f1ad1e28f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:36b58259-367e-478d-8568-b6c4765a0ecf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3d9bd7f4-ee1d-439a-ba6f-fadb6253e501 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3f95961a-d9c8-48de-a5af-f22d6a04ed46 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f7f02f0a-f19d-49f2-8979-5e565c243dba phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8a7449fa-c61b-4779-b3f9-2a228c11cc88 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9b66b455-7b47-4935-8453-dda94f09c487 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:80ceb604-1c19-410e-b2b1-ec3e5ed759df phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:764fd376-cb98-43d6-a61c-1fe36a2e0831 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:78aefa1c-43fa-4cdd-b9f3-4e0531002936 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:68773d61-4003-491d-ad20-f8aecb265079 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e3cfa134-496e-4045-b2bc-808415d0e0e4 phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:aba1a959-2da3-4957-8157-d74b082c49cc phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:832c270e-f9e3-4cf9-8397-91a5352cd64c phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4c3ab19d-f3d4-4c98-bc5b-81ce5e68e9d5 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7649266f-34a1-48a6-aec9-6fbd7fbdcf02 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b1a95733-ea63-44a8-b6e5-33d9ffe35b37 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bc900a59-9d44-4379-acb7-07a26dc0967b phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:00d8c082-5b7a-4611-8b10-d2b28c09e188 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:59f48cd3-f2fc-4d0e-8441-4857dc2e6f8a phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8d44c7d4-fb3b-471b-a579-9054b5e7fffa phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:be3e9111-0f69-40cc-9345-d3cfe3a78021 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7487ddc3-f4ca-428f-b8c3-07122b3a32a3 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3195f6bd-f24c-4448-a96d-c9e16802c865 phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ecb6c172-ed3e-489b-acf5-55ebc128f430 phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6c6a5180-8576-4134-b3cd-bf6b11630e0d phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:771b9b21-9810-45a8-a5de-84b0169938ca phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f493bc62-6adb-4bed-b96b-ff1227aa1104 phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c89c5b7a-7d84-4b23-a13d-ec3021773b81 phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c333fad2-3e87-4010-8c6c-ede543e29a45 phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c5adb8c6-34c8-4a1c-8846-e9edfeccc134 phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:20245110-3163-4146-8549-1ec379ca9d1d phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d1e5bb7e-bdf1-4f84-b69f-1c3d5e2f410a phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5df29e5c-3ffa-462c-b5ea-3fe5fe06bd69 phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:605ba62f-6088-4915-a038-76b6d15de8ff phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:087b42bc-5ef0-4181-8d3f-dada4f16bad5 phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b25107e6-82c1-486e-91cf-8fd8acd295d2 phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5b0eb64c-7e4e-4a27-8c17-410daef5bf4f phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0ce85310-240b-42c0-96c2-e19156a24f02 phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:238f7195-aa2d-4f33-b25a-a83c91a7957a phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8fa6e990-ea05-4304-9b20-4431e1ebb901 phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:47838473-eca8-4d21-abda-c04d55a8f283 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:540f65f9-6a58-4a84-a5fb-2c4520e1c725 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5425d40c-79a1-4d83-ac27-3c58dc541e6b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e6f61433-77a1-4fd1-97d5-c5e86aaf1a94 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6675f079-9f5a-4a23-8f4d-d2d48f5aaa2b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:eda195ec-4eda-446d-98c7-cb4bf7f62163 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b09e86f3-0c31-45af-ae16-fc21f8bd9beb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df5a6226-1dd0-435e-a8c2-32a5f63130aa phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cf9a5492-4ff8-4ab7-beb8-91b3096ec8ed phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0ee8ae5c-9760-4256-b9d8-a5afdd40d660 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:be134a74-be6b-4b31-80a1-80c14d0e63fa phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:620cc268-f878-493a-9958-11fa3b4ceb01 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:29d0ef2c-939e-4878-bc8e-6fc8dfda0505 phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5c3fb41b-1bc4-4fee-9e8f-19f174df85f7 phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3b17014c-f774-4342-a5aa-6d48b90afcea phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:03365482-9252-481d-95ed-6a05a20e9d5b phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:600f88c4-2554-4ded-a62f-c9fc0228b691 phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2ca15342-c73f-4e15-a8e2-6c4c3bc8f233 phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:aefb5657-4df9-4a57-927f-8c83f1242af3 phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7733cd8e-da24-4935-9a7d-fd14ebe025aa phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:156888d8-1c9c-44c1-9ecb-f8c746ce76a5 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9562c80f-ac83-444f-b6f2-f5385d3e9177 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:86e8a60b-1db1-4828-a6fd-c393d71f4451 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0d6a68b5-a1dc-452a-a712-1f336afdef24 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5cd9146c-0031-4375-892e-665b37c6d2db phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:49977fdd-3940-4a5a-9f14-67554b859573 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fd1b76f0-4865-4aa3-8ee4-1b0713a8df99 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c00cd9f8-f5a6-4bba-b531-5879c8f9e311 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bba58a33-57cd-447b-8d8d-6e49c7f54c8d phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ad0755fb-3d2c-48c4-9b07-b3245e47c699 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a7a45bc9-b498-4d7b-820f-f04468933035 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2a9e6284-d2fd-4f3a-813d-f28ed969db71 phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1c8829d5-b40a-4188-8b1b-ba1e4d94f018 phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8b8dea3b-60b4-44c1-942d-c7ffd1378dc5 phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c5913b7d-0a82-4651-b75e-7c238e341b45 phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4f289018-026e-40b7-b261-ba540f64d65e phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7de1b460-ca64-4568-a169-31afe42d2494 phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1ad9ed8f-59f9-4d69-bf7a-e2243efb390a phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ebbe89f7-ddd8-4b04-8fb4-96e05a996b9a phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ca249195-a481-401a-8782-c2eacc81c7cd phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2e0ed335-ff03-4b02-9188-46f5d5585983 phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:985cc3b3-dc3e-42bf-be45-3443ab0026cd phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:15996e66-9eee-40bd-9339-0df8e3e00e0f phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a59d66be-ed36-46c8-b669-9fe8078290eb phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:60d7160e-f0ce-4325-9f2a-1373b076ea62 phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:971b609f-64cb-41d8-ac83-a73e1ad93211 phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b3d49da2-a743-4bb0-9d6f-9383d0e98662 phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bf4cce9e-1c90-444b-80e3-125e2e399fdf phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b5b19b0a-9a97-41a2-8493-383f1f975bc7 phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6bfe6c5e-5181-434c-a994-c3a36309a405 phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6a2e451c-3a70-4145-bd9c-eccb2f0989ed phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:bd656e8a-d4b4-4679-89d5-aaa1c9219a00 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:99c3c7d5-1c91-40e9-8551-bfe08f5196c6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:156c6c57-4525-49c3-bdf3-428db401c4f0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:32246498-963d-40c5-841a-efb32aab7545 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8b5f0317-e357-4193-bb6d-b391a456b70e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:336125e6-e0d7-4721-acbf-8db43af681f2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:dc0fe269-aae5-4f38-9ef2-38729493e32c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:aa000564-1620-4a06-a9a9-12064b141b23 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7d504aeb-6299-4396-92a2-ab503369cae3 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4680f6ad-a679-44f2-bab8-4dd281622e5f phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:020a898d-dd17-4bde-9d07-93a94f55fdc3 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1c2f3a02-9ad4-4293-bf3d-f87a8fd57420 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7fb17344-45b1-416d-afab-ded14b71ab3e phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e372f345-f7b4-4805-a1ad-1df8e2492942 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:aaa7b132-02eb-46c1-8c38-5a3140bba4b5 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9f5243c8-3fb8-42c1-bd6a-339ba931f2e2 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0c3df720-dd63-4d4f-b91c-6264841451a4 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:40dfefc2-51ad-402e-b8ff-3b2010963ec5 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:80663510-d04a-4558-a4a6-edd85a1c3797 phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6f1db96b-67cc-4e9b-8f9c-f35fb95a2812 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:100c1ad5-9d5e-4707-809e-3e4d497a0970 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ab6b64bf-2878-4106-97c0-1cfc7db2d8f1 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c57f9d82-2582-4a05-a125-ac774a707e97 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1f591997-2fb6-48a8-b71c-1f7d83c86a0d phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c0eb09df-72f0-4a1a-8dee-c6b64f0d4fd1 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7b311bbb-6a89-482f-a18b-dad4786adc4a phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ecae7bbd-2efa-4418-8daa-b623dd2085d9 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8ad75d36-f09e-4a2f-920b-4dec56e05ac6 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ef9b3a6b-023e-4790-8270-754323eb31c4 phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:268152c5-bdb7-44c9-816e-12e95325f879 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dac9d929-84a4-4600-89d9-62b0fbfdd6e8 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:10f9e41a-44ae-412d-b2f9-3218d16986f8 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bae4803f-e364-4c29-86a5-6eb30e54e103 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d5055bed-94ec-45b4-ab80-648afd9df9e7 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f4b109f8-2a01-416b-9328-b26ff176caa9 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a6a747c7-ed87-42e0-97f0-824e7ff413cf phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7f5abf21-a944-40f9-9ccc-31d46f297c57 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:359f3e6c-f7c2-4168-98d4-ac53d2246257 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:998828aa-cefd-4ded-8b72-51aa9f255c02 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9c1beb52-9566-4a93-873a-b2a4ace8c193 phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5468d92c-81b7-40bb-bf34-7675e5b37580 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8e2a8020-ea54-41ec-bae1-687e4ca65880 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:94985c15-5a58-4f88-9b7c-ec15ec736d62 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:53dc3a0e-478b-4c0e-9ff1-d67fde50562a phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:18412410-b82e-412d-ab11-81966622d328 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4d1cbed6-de93-403e-87e1-d73ce2d4cd02 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d13ca774-a419-4829-8eb3-3186bc56e6a0 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:65a7c52a-97e8-4349-af92-99eb961276d8 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1353dc7e-d9f6-4fb6-8bd5-6804a0a79a34 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:857433b9-ffd2-4143-bddb-83508ba3250d phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:cbd943db-4e03-4dfc-b60c-b06ce64e84a0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:12aac5da-31ea-45b6-b80e-7515c375e44c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dd91fc49-86bf-4e10-b286-fab8865860c7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f6bc1a9f-a596-4a2c-a06e-649856dd0cfc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:492966a7-78e7-4902-a365-47c448782a12 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b97842d3-9bac-4c9a-95d6-106d617c4095 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8d3291cd-6ba6-41de-8501-0e2bbdfd2bd4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0732b265-867a-4b93-b35f-d2bd20bd6f72 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bc183b9b-a60d-466c-af85-66a02e5f4f17 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e6048908-2f7d-4e09-8c6f-d79e7d344671 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0cb6d5b7-bbb1-4c3d-8b07-e3b87663998c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3587c78f-b293-4a91-b5c1-a239bfc92fc7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a7e4d5a6-c253-46df-83d5-ea7afe9911f2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:73644d92-cfa2-43d1-9b79-c572564bf972 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7fdab3a3-56ec-4f78-9d34-c1578f9062f7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:af603be3-0ebc-47f7-a8b6-474a3231502f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c7400f94-d3de-4cb7-8ad6-66482ee16411 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:be18bc6f-5d94-41bc-a923-8362b5e8bcfe phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7c298f36-2982-431c-890d-1a9819879979 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:48bbf6cc-dd3c-4c0b-8dbe-3c8ee1f06366 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:49bd4306-ff85-4fbd-8c06-3d7d7bdbe80a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:023fd5f0-cc04-421a-b1f7-78035b278010 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:feb1ced8-aea5-4657-801b-ead3c4c8fcf0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6fb0c170-fca8-4374-88bf-0399590ff176 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1c4e1f02-72a8-46ad-bb8a-df706f6dc8c2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:855076e2-88d4-4121-80ae-508407ec8571 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:61777d28-d636-4e82-a436-0090d0b0fe3a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fbfcc15e-67df-45bd-b5d9-7e05102ce59e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:463d5143-fd3a-40fb-8092-14bea91fa38e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:28f21b6d-6100-404c-ae3c-af1620ea5ab1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:46765336-373b-4680-867e-ec5a46f60290 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:73f0b3f2-208a-4899-a554-a88558312577 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3be0c223-590c-48ff-88ac-ae9e28af80f7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9b4e95bd-2ea8-42ad-a28f-da25063906b0 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:85ac9470-f482-46f4-aa44-cacc0dc9dbbb phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c94e5725-51fe-4774-aa66-7dd6adc8b756 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ee2874e6-2a94-421e-b105-c4015c5e31a5 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:474c0dc9-9c28-487f-b41e-8c814aeb1994 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:78895c41-7500-4a21-9d2f-d9013f931119 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d512e727-8218-49dc-be44-15cdab961c12 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fea72d60-3bc1-4e9c-b975-76d7e0c0e49d phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7bcf8e13-d6e8-42c9-bde2-4d29c6edc89a phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b7d03e2f-baa1-4378-ad36-102e5c456ec9 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5401e68a-7eec-40d0-9089-f46bf2c766f5 phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0c7ebdaa-a85f-4b9e-a998-d244a05a9d8f phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b12f2d92-2289-4438-8499-66f8481a53c6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7ac317a0-11b4-4755-8235-146e08cae2af phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9d92bd73-898d-4f1e-95db-aa05899100d3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d36c9fe1-3eda-40b2-8f25-6ed6510bc503 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7aeda66c-34fa-44a9-9f56-69508e48d6ed phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ddc97d77-7502-4bae-9e9e-7fe464eb03f1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1376726c-50dc-48a2-9de3-50a026d3c63e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:58870a70-83a1-4b3c-ac49-a475bd51dcbb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:73621487-1f51-4f17-9d58-319ef3b02dcd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:98bdc78f-5c71-4709-9e79-cab41c51f969 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1598d2ad-7719-4c70-af41-31964e2266e1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7b5bb62e-13c3-4a29-b5c2-71e77f4fc6d9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:06fc52f1-a688-4d75-8c49-f0d782d9abf8 phenopacket.store:SATB2.PMID_31021519_individual_from_Trakadis_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:eb75585d-2861-4aea-86c4-b37f0950ce26 phenopacket.store:SATB2.PMID_31021519_individual_from_Trakadis_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:699c2372-2007-411c-bde5-c8e8cdd054d7 phenopacket.store:SATB2.PMID_31021519_individual_from_Trakadis_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:db944c37-a7a2-4478-9edd-79052cc0935d phenopacket.store:SATB2.PMID_31021519_individual_from_Trakadis_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:af1d69a4-554c-469a-af2f-028c9b210b9a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:efbbae35-6d50-468e-a6f6-4fd9ef8f6e11 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df17eeca-36ed-47d1-93b7-c56a6ab4f7eb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5f49f3ea-7f98-4c1d-8032-7ac6a9c93288 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2846e978-1a1a-49b5-b41b-b8afc84c5324 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d20bdb29-02c3-4335-bec7-4ac44c3b8a36 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d70b2fd7-48fc-44b1-82f8-1c478e001e7c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:58cfcb82-8878-4352-8d44-48ffcd608f0c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f08bb085-a680-4324-b782-76a9d923d52c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a771f03b-f7e9-46fc-ada2-d499322dbbec phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d27b1ee4-cf68-487c-a896-775688661431 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cc7eedd5-b611-41ea-a2af-e220159f1418 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:91192b34-8e86-4636-a591-4b346d0e642c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8cd502cb-22f3-4d85-82a8-b181a894dff3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a85b63f5-55c0-403c-9b85-b67ad9a3e353 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7111f829-8115-451a-a05f-ab77004ac864 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c58953a7-c312-4e3a-ba08-1c888bf1c934 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a8b697a2-5abf-40d1-aa27-49eba86fb237 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ed77f540-9d38-4378-9383-356a882bfdca phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e19f7366-8a5e-42b3-80e2-768841f273f7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:77b757b4-517a-42ba-bc0c-d75b2a3d6e42 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1cd68e27-09cd-4298-9eeb-86e6c3f416be phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1eb32c6c-7f16-4eed-ae54-2cab70268352 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e712e740-6160-4524-9c5d-8367e537146d phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9b49b94b-9ab1-40cf-a7cd-f18eae7fdfaa phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:296af3db-3a44-4816-9ced-7657210f80e8 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0eb4bd54-434e-4830-a6f1-1336da09d8bd phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9920676b-cbce-4b33-8325-7f5754fa5bc2 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d3742d6c-b74e-448e-86c5-e61d93026542 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1645bd75-a76f-4cae-85e0-551d8db104e2 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f58cc3a0-7151-4533-a4f4-4f3d2738e6a9 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:17de6dcf-01fb-4cc5-9a40-36b4dfc742cc phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f132827d-0aba-4fc7-8208-36da59e4c367 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:fa7828a2-c5d1-40fa-b701-698ae6b39ef0 phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d294f580-3abf-4a92-93db-46adf1dde116 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d4194095-fe73-4915-ad5c-202990a60bd6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7c5199c0-a54c-4b0e-af9d-c3c4ea64cf25 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:49428f0b-424f-4dcb-8d2f-736f63320fc7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:512eeec2-b62e-4a2d-9e72-3ff91fdb6e6e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:27ac5592-9e04-47ad-9b4d-440dae3e6e57 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:91324772-846e-4bfa-942e-98446368bd88 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:883adcbd-2ead-490f-b98c-3e4f98630f04 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1d56c430-5ca7-4b6f-97b0-897291aaf29b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:81920f55-f409-43d0-95c4-e40dafa01149 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:21734f80-aa5d-4e98-b8a7-9d2db15ff1be phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f01ae998-7e63-49c7-8490-28a59c9298b8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8ad8470b-2f36-46e7-8c39-c70c22bb7d3e phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:af729886-0ab5-48e4-a1f9-675e4bbe9116 phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:890cd337-f177-4e21-8af9-c40fd866f6b9 phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:95bafa60-ff02-4261-a1b3-25da6803df0e phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0ffe9da8-267b-4e2b-ba84-6262ffbde7a4 phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:75695ee9-fff3-428f-8886-071d8122ebb7 phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cc4cfb3e-5087-4e98-9650-1473d96915df phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:db79bfa1-9386-4652-8fae-1b9324426b4c phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:db1aa2d5-7a8e-4407-bccc-1880c5bf3eaf phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b1fb6cdf-b542-4f7f-a001-5db75d86aa9b phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:36ba1711-82a0-47da-8914-41e7731247ac phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:4cee0f93-fc2e-4312-b26d-4833d9dffb42 phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:77430d6b-9018-4cb8-9294-884dccee2c5c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fa9c7510-7134-4be2-8204-ebceb5f9d377 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6899298f-7c7a-4705-85b1-9538f78dbd23 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:642d03ab-3d0d-46ec-a67d-f6ed59a2eb9d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e5d24af6-6a62-49c3-8b07-dcc9322039cf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e8c8f81f-f34b-46b7-958f-61dd9fe6f562 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:fd5f77bc-3c2e-4b2f-a8b2-47e489dda08c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5e487a07-bd81-4e83-9072-1694e1c58f5e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2bb774e0-5a8c-472e-b8e4-757ef9e0fbfe phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9e339e3f-7c59-4f4a-8859-d3f07f240e37 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2bf9e8f0-113d-49cb-86a0-5048ae61f240 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:95fe7644-f81e-4abf-96f1-b982328a87dd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:05ffd8d1-7312-4f8c-bdc6-8e0d717acb7b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:28e6fe19-e27c-4cf0-9af6-24b53ed6daa1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8ebc0294-753c-4b56-b2e0-bfceb645b959 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:20217f5f-17e7-426d-90f0-cb75ea726290 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f627b932-8597-43a2-83ee-9109bf624115 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fe47d2d4-aab8-4e27-a2ec-5636ec5fc627 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f89f72a3-ceda-42ec-b272-18f7e0132b5e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6571d1dc-6833-42bf-b0f9-7dcfe07cfe04 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b61fcf15-fbb6-4b1c-afe7-b8c3e2062dc7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:54748bf5-54ce-420c-8d49-338c242c4430 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a5512553-d9f9-47b9-8cf7-78f451d95f72 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6b4f5644-cdc1-4bc4-8a60-e5f3765bb54f phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:654449ed-6eda-439c-a9dd-7cecf6ac4097 phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f763006e-58db-4d32-a5ca-0f752ff2d3cd phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5ecce1f5-f140-4173-b437-65b3a2eca240 phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df070b82-3533-4252-b90e-2ff77fbb8a53 phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9f52c2d9-2274-4b4b-9b98-52b0606374ef phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ba89d968-e078-4969-a0d4-2bfe38813f77 phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:95b702fb-433d-49d1-9e6a-a3d803dda8bc phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:81d6d5da-06f2-4fba-9ec7-89bbf2cecfcf phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1d1714c2-de67-4734-967c-1a24bc830280 phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2570280a-3818-49a0-a06b-5ba0684fb8a4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7a5d90fd-8c41-459e-a4cd-1a3a935825a9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:41b8f29e-c096-4590-b96a-abf200ce4fa9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8a9947b7-88a0-42a5-9794-6dd79e5f860e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:194a42e3-1a92-45e5-9601-b47bc7d5c386 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:34e63e75-d66a-4d2e-89c7-370bc193c92c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f07ea6ec-b727-48f1-afda-2e8a2789899e phenopacket.store:SATB2.PMID_31021519_28_from_Cherot_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a4f8e418-4a97-4b68-9030-e0cad5888396 phenopacket.store:SATB2.PMID_31021519_28_from_Cherot_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4f93b26f-d2b7-4535-88a2-65116e7898af phenopacket.store:SATB2.PMID_31021519_28_from_Cherot_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:49a4e3ec-585b-4d42-a14e-ac15e0ab71af phenopacket.store:SATB2.PMID_31021519_28_from_Cherot_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f7e0ad0f-649b-474d-9bbf-975b4d49a480 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ee6d3d27-d715-4eed-a72a-e8cb7ad92735 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2ec2fc63-8d91-42fd-8145-8496957c58fd phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ec15bcaa-3256-4023-92c3-4db48e8934d4 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1818a152-44d4-4acb-a6a1-9ee6a0567ff6 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1d40a14b-21f0-4166-8d13-f6d461bf4028 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:31144e7f-ae15-4913-abc8-0e76e32f7608 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9462b075-f59f-46d2-85a2-8ccbbde7c65e phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:74fc7387-36de-4357-b22f-a02e083a6a81 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7508ef17-9165-4c30-89a3-fe6344815893 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:03cae974-c2e4-4f2c-9d01-233c40c6625e phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d92d3f02-368f-4eb9-9289-c4435e4691b4 phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:488b0326-d1e7-461b-b46c-544b4d06c99e phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b4b6c016-46cc-4d7a-9fa4-da724a525d3e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b9d6ae4d-574d-4e94-87c9-9304785d8f07 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f6f9082e-7e41-4f34-aab4-52deffa19bee phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e0b62a17-9c38-4a9c-b538-3a1660a427b4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b3d42164-107d-4895-8a8f-a61682565e73 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1cedbaaa-818b-427f-8868-d8b25abff684 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:693f04a7-2c46-453e-b8e2-32400e529faf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0b8bb71d-b57d-4b8b-b5b3-dc8abdce2342 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b3915ec2-4c27-43cc-9f81-b04ebd28cfe7 phenopacket.store:SATB2.PMID_31021519_Case_49_from_Baptista_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3dee097a-0c61-4c62-a781-b67d6445f01c phenopacket.store:SATB2.PMID_31021519_Case_49_from_Baptista_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:305a7d29-74dd-463c-8cc3-9eb48df7891a phenopacket.store:SATB2.PMID_31021519_Case_49_from_Baptista_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:58a9010a-3271-4d5e-9d76-e8c21bb6fc1d phenopacket.store:SATB2.PMID_31021519_Case_49_from_Baptista_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1e13d9a5-04d0-46e4-b492-83d9015d2962 phenopacket.store:SATB2.PMID_31021519_Case_49_from_Baptista_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0d59fcda-6726-4eb5-81f2-47f13a1a29d8 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f051edff-09a6-4730-bcf3-61134c6c9764 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:18b2558f-1080-4185-9d1b-2979759c8185 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f60283b0-0d19-4c1f-8c4f-3973dc25b3d1 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cac78ddf-2ba4-4a67-9b51-22d0dc47aa83 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ae0ac237-078f-4f58-b739-b5f6f5989a1a phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5b89a7a9-c320-4b54-bbee-b07c87479757 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:526d8fea-f78d-43f6-823d-1e1744de1e91 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6dd657ab-aa08-4375-9595-7c76c112a750 phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c98d3020-c30f-4a68-ad49-ebc34c70f5e7 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d733607b-a070-40a4-8686-5bcbc10173eb phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:324aa784-0cd3-4453-a709-da4c014459d3 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:40a2c5e2-1538-4cfd-bad9-58d5daf318a4 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fda3838f-26ea-417e-97f7-317047777eee phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1b43010f-3722-4d20-bc3b-7a0c642abcfe phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:fd69e13d-beee-47de-9aa0-23edd4f7be92 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:affe985a-adaf-4380-8650-b5fe6974311b phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c5dafccf-8460-4600-9549-fd45aa936f3a phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:862fca65-8367-472d-9f4a-44ab4c3edea4 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9a3e58b3-9128-45af-a9c1-5e2158311403 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b0314616-be97-44a1-846a-7cfc99821c40 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a2e3d573-7a10-4fb5-a755-921aef2b5e46 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:07b23f1c-33f0-420f-83f3-afd4ab23b448 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f129df3d-567e-47b5-844a-dd004565e9a3 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7d10390b-c4d5-46c0-a234-accfa267f8a9 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cdae9841-a52c-4fda-8b92-4d6d56c8d31f phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b5e49054-0bee-4bdb-8b1a-b63dbc436b02 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1d160324-3667-4fcd-8ccc-ad5440aa00ec phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f0bfe80a-eb2f-4ea2-8370-53777679b299 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5a9f39a6-81d1-4c2d-94c5-1fcdf69ba8e7 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4010244e-73c8-470b-9de8-a830100b82d4 phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a84c48dc-736c-472a-89aa-6611118ee07d phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c300e091-df83-4ab6-9add-307c3b3c389c phenopacket.store:SATB2.PMID_31021519_62_from_Vissers_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1f6105fa-626d-41e0-b583-444a0ed8cc39 phenopacket.store:SATB2.PMID_31021519_62_from_Vissers_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:12559fa0-5169-4fa5-a98f-5bf4071eec0e phenopacket.store:SATB2.PMID_31021519_62_from_Vissers_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:4df83dce-8a29-42a2-84a5-2a440da9cf3c phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9a3c0b5e-6878-42ca-8091-b35222496660 phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9043e221-67bd-4d08-b707-1133e7a49d99 phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7ed1fb4a-4af8-49a3-b6f5-64ed1d2b1bbb phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bf3a5c42-5510-42d1-9d0e-503c881c20e3 phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c4a04858-7cdd-4289-bc58-1e6238873f26 phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:85e2093a-466a-4141-9e8a-50f50d3e3f56 phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a64e628a-7162-4e8d-9767-549f5b6ba87d phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1486790c-bbc1-4ee3-b96c-7b4edce9874b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b868407e-03b6-4e2f-9ac1-0c9ab6101052 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5bb96851-8214-4e30-99f2-20723f45a03e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bfc38f04-128f-4ae3-9cf2-620c90d24d02 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:442b9455-ffa4-472a-bfca-47a9c5c8d654 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:412f5182-07ae-4bc4-8030-d98dc91ba89f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1fdc86ef-cb82-4cdd-ac91-9a04ba98df20 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:849008ba-249b-4da6-a026-7102d4b572d9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4c777734-c865-457b-bb74-17d9fe20ca94 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e0145392-9502-46c2-b3a9-303a2c73d6bf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a52f2d7c-219f-49ac-9307-e3bd041c931f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c6ddc189-aa4f-43f1-82c0-43dd6ff6b46a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e27ddf34-8309-493d-95af-fbf5c93b6acb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8b898120-69b7-43c7-a081-746110e80b87 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:eea77050-6171-4e32-a5b2-afdf02c65b78 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9d7cd8d4-57c5-40ff-ac62-9dce3565b65f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b2391a15-590a-4e1d-a10e-0f2188aac299 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:15d93805-f3b2-408b-b7ad-53b6b0826f8e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d238ddec-d28e-4989-ae43-9e381a92ea6c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8f6ffbb3-ab11-4384-b9a1-ef4bdd336b96 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:244a4e74-33ac-45ff-8e6d-d4ca3b9b88c3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:14e5cc9c-e77b-46fc-816b-99a775572c50 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0fc484e4-640c-4b50-9d45-d32c115f3560 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:123d4b52-81fe-4a05-808a-9e1a15360790 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e1ada9d7-f44f-493d-bb93-846b7779755b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:deeaa28f-c0a9-4fee-bd35-118336a68c97 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:75508165-d3f2-4fac-b60c-c541d27a4e7e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a93ca36f-8729-4750-bc09-691a263202c9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:857a5591-475a-49c7-92bc-ef93b110fae5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c24ed867-538c-4f51-b417-d73be5f58818 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:da0ad538-4686-49fc-a6b1-116993e1cd71 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1ba52b0e-9485-42eb-b58e-6c0fca23d6ac phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5e6fd149-4730-4601-b925-2f0826ced8be phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:34c87800-ca9a-41e9-8f76-5e2206f2362e phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f528c43b-c618-4e52-8034-9b466457c0bb phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:739e8710-b921-4d80-8d04-4f8d877f99c6 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9ad975f3-3721-40fb-8edf-853a10e32043 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:450a8191-bc91-457d-86e8-e564a5036fb3 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5962f1a7-d900-4930-84ca-28ae5ae9b86f phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8a69f3c2-c432-41c9-b16b-f957801afb18 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5f77b650-dea9-41c4-9fa7-f7baad6417e3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f2c3a3ac-93a8-4ec1-b1ce-5558da9ba880 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0af8023d-6c6b-4c43-95cb-61acdf353164 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6f6bc8b6-18c8-49c0-825a-387af9a84a0a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:52c586c4-eb63-470f-8b23-ee012b10e629 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:024595d5-0c82-4e43-b4a5-94067551de62 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:673c5d6b-4d10-4af9-8de0-32072ee57aaf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:efdd0d7d-f630-488f-aa30-bf62f36e4edf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a1e16268-06f1-4fa3-aa70-2067724094d6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e0279548-a815-4b39-9fa3-9eb86ec92a6c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1a7c9fbd-816c-42a3-b347-8d52ce317015 phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5ecf1e58-582d-401f-af8f-dbf8daffe7f9 phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:50084775-203b-4664-bd2b-576353e8eaad phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1fd872ad-4d34-400a-be2c-f8964b672b4f phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0a5b291e-9ef7-4b06-9034-f9b6d38dd823 phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d3ca5348-2bae-4643-a49f-38bbeaab2c67 phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:befa250e-1d6d-4ce4-a9b8-4e0ce5a0d7b1 phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2bf8da03-b0f7-4f78-9f40-ca5c459ed5b4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e0a990fe-c1f3-4fec-bd32-4ba82b35568a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4fc1ead6-35a7-4bfc-80da-27d60f5d8f48 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9147e490-b195-4389-b692-690350ea896f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:64d4b363-819a-4fe3-9c85-9f3cd0c4151a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d0a91468-e819-44ab-85ae-bf0c56d988ef phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e1a7b006-88db-4132-ad80-c692acede37e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:35e48ad2-8e3e-4f35-9507-cb7eafc267eb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:605ad05b-9f47-4167-9ab8-dd7b446b0200 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:11a1affe-4a83-4839-99d8-54b86067dad4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0b7b34f7-a82d-42d5-9e42-d89908cb15e2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0342946a-1bd5-4fd4-be73-de631feabc42 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:017bf4ec-859f-4544-a1ec-51e50d202bdd phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cf409cb0-afd5-4d66-9f57-1ac05f4b36a2 phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ed7eb822-cfbd-4f5b-b8c8-e6afa97c664e phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:63cd67c5-0f33-41fe-b3a7-c1a0c8700bc4 phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:99efadd0-b9bd-4b45-aa4a-5bfef88313ed phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0b465283-aef2-452b-bbd9-21cf54b34565 phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6d336f40-4b04-40ed-857f-26e4c719bd03 phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:29834aea-c7df-4aad-94de-35ad908e930b phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a7eb71af-3f38-4ecf-b877-85ea9bdf181f phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:bbe0db46-3bbb-4329-81a1-d00ce7cf8353 phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e6da79cd-b34f-4fee-a068-68650e829b69 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:882daa5c-e9bc-48f9-9fdf-9274ceece842 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:87310268-65eb-42eb-b59f-1c251737ff88 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d2846439-242d-45d5-97fd-188d28b0d684 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6e4a92e0-d37f-457a-b240-5399b701b159 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0703622a-3e1b-4b4a-b852-bd9a38a09dd8 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:498dd382-8d58-458f-88e0-884f28daf745 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:93bbbbe9-8552-4176-8d55-e923bba54769 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7ece7b61-23d1-430e-898e-5e4e675ff9af phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4eba3de9-dfa4-4f15-a52e-cbc2bf484444 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8a740d64-2b83-4382-b7c8-fd69a214d978 phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:793af338-19c3-4722-be74-9b6bc72a2c3e phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b41ac2bd-c04d-471f-be62-ef78384313b3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:10ee18f9-17c3-4c6e-8131-6c50bcca94bd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:40b0cea3-faa0-4303-ba7f-c1614e38d0f5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:72526c1c-8884-4826-bced-b00e6e4f5055 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3418819f-2701-420a-a855-c17585c23f2b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4563adc3-3048-4ab9-9286-b8bd84906c8e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:50e23e8f-f25c-4590-ad44-f1f482858368 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:852de254-e451-42c9-8c90-25ef94217ef5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4c9ff2ef-840c-4465-9fdd-aed9dd4b641f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:63f7fe2f-1f67-4336-afea-4739bb5e684e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8d341560-7431-4aad-a466-5ead1bd1b3ba phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:957bb0a0-545c-4a06-9e72-97dc3689dbb3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:cc309855-b968-44a7-82e3-332662089f03 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d1218735-6e71-48f9-ad6a-4ee99c645b53 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:92be23b9-c6e3-4382-87ae-3d6e24025ab2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9e63ac86-822f-4f87-8144-3d4ed5ec1f48 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1b63c44e-39fd-4c8c-be0a-a6cda05749b7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a98481cf-5647-4611-aaa3-ab93651f02c2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bbb02fbe-d28e-4fc5-aa6a-56247e43fe68 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5744eafe-0b79-4299-8b46-9de34f9cbdcf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ed929933-f270-4580-aa7b-3f291931cad1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e9584532-6e0d-426e-8e7b-fc52e8688553 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8d750c1d-151d-4ec0-9121-6429dd6c9187 phenopacket.store:SATB2.PMID_31021519_25_from_Gilissen_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cb7cad64-9c2c-45e0-91af-a5e9d2828b90 phenopacket.store:SATB2.PMID_31021519_25_from_Gilissen_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:96119202-6e74-422d-9917-cbabc4ad2dfd phenopacket.store:SATB2.PMID_31021519_25_from_Gilissen_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:93024deb-739d-4bfc-87e8-596853c1a11a phenopacket.store:SATB2.PMID_31021519_25_from_Gilissen_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:44145b98-f72c-4cee-b354-5e17203f329d phenopacket.store:SATB2.PMID_31021519_individual_2_from_Farwell_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e7a25112-71d7-4ed5-898d-c5f218dd0e67 phenopacket.store:SATB2.PMID_31021519_individual_2_from_Farwell_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:48286a87-fbb5-46bd-8c1c-30ab12b899ad phenopacket.store:SATB2.PMID_31021519_individual_2_from_Farwell_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8293f548-29eb-4b31-9dbf-0578e1716a83 phenopacket.store:SATB2.PMID_31021519_individual_2_from_Farwell_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:527041f0-c759-4911-bce7-678386661d5e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c8873bc1-4a7e-4bc8-8ccf-6271af881796 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1e488126-2e7c-4de1-baee-c24ca9eba5d7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f5e5c529-4551-4419-adf6-4a4eb5dd8508 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3e311f16-99fd-4bfe-b02d-b835a961224c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0a0265e1-1cdc-42cc-b7ac-06cd08011baa phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:aa9c7e7e-1fff-4857-9458-43d5f9bbcb0a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d7d51925-3eae-4489-b3ca-2cce4d3aba1d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b45e8e23-6167-4bf1-a415-573287065447 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1dd12df0-93c8-422f-a4c6-6bdee5484254 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7bdcf383-2904-433c-b034-9e0b9a46cf96 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:91b9ce1c-843f-4a41-a98b-8bc73db3579e phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ca1c2f86-2dbf-4deb-9d57-f102af1ffa62 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7b9bf767-b31c-4659-8b91-65c571afd10e phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c7851689-1f83-4e84-9262-8de81450b4b0 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5107a680-97a7-4507-9c02-cae9dd7710e7 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cc4607d8-28b6-436b-b758-3dd5fcd9e6d3 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9d9feca6-542f-4f59-93c0-c8470caa689c phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3220530a-0e30-4456-919e-d9018b606506 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6a728d7a-671f-4213-9f30-fd0e91044565 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0b36118c-33a2-4e0e-93e9-bf66681e6ce6 phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5711f5a8-ee1a-404d-914d-8be72434371d phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:eda2c831-0c33-4805-9072-4644f15f7d8d phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a92a0aa4-f410-4989-83b1-7926633d1b5b phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c57fb64f-b208-45ad-9d96-17d7d9ed7b6a phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:40b3854d-0135-41f5-83ad-5fd331ba30a6 phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:629a9f80-4158-47cc-9e27-16b582e33eda phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b4c4b271-c4fa-4010-950c-b8e3893f0de6 phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0d19758e-6eec-41d3-a148-c434c4c6b8b5 phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:59b3dcd3-d357-4d31-92eb-eaa9c1531ea6 phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a9870d5a-edfc-4f83-8c1c-ada9651cd39e phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:958140e7-cc84-4f10-97f3-0a52b730d811 phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d4055e4c-b368-4b15-8386-9139a21839ec phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9b0ea44b-ba5f-4393-9f0e-52ab5af97304 phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8fa51e6d-9463-4693-89b8-6089a443ea46 phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:35b66fda-7039-4d3e-8a14-9f0a9a15187e phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d6e0970d-3f3e-4176-b99c-a1950c04d67b phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:275142ef-2c45-4285-a391-16e886537b4e phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:530b1634-1d74-434e-b841-e785d1353972 phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6206b6c1-860f-40c3-af2f-ca2d21174cb3 phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:87d70fbf-b2d5-47f2-8dc9-5a4e1e213b2c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c8c9b5f0-2655-40dc-85ee-99bb08621acc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:616fab6b-dbfb-429f-9945-7f2f2f379c1b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4836b179-d7a3-48f7-aa38-cc2a6c59ec0c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:aa7b349d-4dae-4573-8bca-bff4a460eba8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4ba255e5-e4b3-44a0-97a6-72d082797ddf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:13e8a192-f424-48e9-a836-b5a1a317dff9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b42cf98d-9d8d-440f-8806-fd71ddb9413d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2cc8e2d8-3cb1-475d-af49-561163ec6695 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c850d8e6-8645-43f3-b282-7d94fdc026f5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ebf14e11-c05e-48e6-be98-a10914870783 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d210be48-f56c-4510-af02-2bd1d5ea2826 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5855625c-9f3d-4e34-a616-58dd1876820f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9306e452-303d-4651-b13e-41f3d5e18ba3 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5b56f729-38e6-4285-a5a9-4e0da0023360 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:59ff0a4a-86fd-477a-a3da-c306641b6cc9 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fdffe01f-9cc7-4645-ad04-60506cc193be phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:87d4590a-ed09-4df0-a7a5-1ff9b38c0eb1 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8f59388e-fd67-4736-99d1-762e8fede346 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0bbd814e-261f-42fb-a59b-b7ae5c80b0b5 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0b18f69d-bec5-43d8-a73b-fe4f798c189c phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a9d091f8-e247-46f4-9fbb-28b088873b3c phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a9c98869-a352-480c-93c6-23f5395e6837 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:774673fa-f084-4221-a469-16b861e6b93f phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c507b5fb-0625-4352-8adc-9a556fcb70d7 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:27007fe0-bd29-488b-b64b-b7f7ace7a9a0 phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c41994a6-2fa8-4817-8bb3-73ff53904740 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0837b50b-4351-42a6-8b09-ff64782fbcc8 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4aeef539-6991-4198-b427-4111fa104733 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f2f61581-abef-4cbf-99d7-eaf2343df376 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d3d0f50b-0083-438d-9296-d8a8450fdc17 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6099ce8c-2eb8-4c39-9876-4054a9748b26 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4929956e-bf8e-4318-8ce1-496b96126490 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:18d7599a-fa1e-452d-a1bf-21287d8dc5d7 phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:23dc6011-13db-49f0-82da-d654bc1fa612 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c867dcaf-b635-4089-a0a1-649ee64d5e12 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a4999257-d315-4228-a067-75c6eb021735 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6a38f65f-0364-4a2e-a07c-7926ccd85837 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cc49dbb1-772a-44ab-928d-00030474cab7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0127c972-a6da-445d-99f4-9bb64a07463c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:39e26b5c-f8d8-405b-84c3-967dabd67a52 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3114faba-ee1c-4d70-b364-a4cf8352e785 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:648b8dac-34bb-4235-952d-54dfcd47b095 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:91b72b7f-33d4-4574-8ee6-b95059043839 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:442a8b8a-5a65-435e-8581-d5b30cc9dc85 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a58b8718-3e0b-423b-a422-175733244de4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:77958216-fa88-4fad-bde4-2d781f0df6af phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c6d55221-71fe-4c39-9ba1-b27364ee4daa phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:de2c3997-28d9-4cf6-95f0-c6bce561af1f phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b5615c8c-a7e4-4a01-b796-420d250a9f3b phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1efc2609-9bdb-4c07-8b18-94297dfbb360 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f7f8f8a2-c1fa-40ba-8e95-bef909adb97f phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:678e2d29-0f36-40df-ab18-95bdb45f5590 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:569cd7e1-aa5b-4741-83f8-2cf98e753502 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:be9707d5-c461-48bb-ad4a-85cec5fb3736 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2bcdaba0-5613-4a68-b71f-391eb153793b phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:30d9e6bf-95f4-4060-96c4-29581b6ccf53 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:21bd3223-243a-4f97-8189-ae7b048ccea1 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a7b16928-51ae-4b8e-be68-cc11ac755ec3 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2af7b907-cbed-424c-8956-5dc7eed3dd46 phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:94f6f945-5495-4dce-99c2-b6476bc345ed phenopacket.store:SATB2.PMID_31021519_ER52725_from_Rauch_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:35d1cc0b-9605-42e1-aac0-237f3a329e6a phenopacket.store:SATB2.PMID_31021519_ER52725_from_Rauch_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3c269cb9-9742-4602-b22e-9e6c2221200f phenopacket.store:SATB2.PMID_31021519_ER52725_from_Rauch_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2c15b6c9-cd57-40ed-89f9-7df2c4de4927 phenopacket.store:SATB2.PMID_31021519_ER52725_from_Rauch_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7938a67f-2286-4880-9d44-8d454ecfed31 phenopacket.store:SATB2.PMID_31021519_ER52725_from_Rauch_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7629e4ba-6d96-4e91-ae40-96114fcb34c1 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:436253a8-223a-42de-9cea-6d613309d79a phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7a41a979-a2c6-41b7-a135-05a1526139f4 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cb7e07a9-793a-4721-b03f-d32acc3b4f5d phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f42c9306-b307-40c0-b9b2-70d799e44697 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:85747806-eaf7-4d6b-8201-ee4d6912b083 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b098807e-90ee-4d2d-ad9d-7a415d26c425 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2ce88a5a-a56e-4175-bef9-4f57b2738172 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:96d6c49a-a79b-4dda-b3c5-67c43b76ef6a phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a7bb939c-4100-4edc-acd7-4a9ee09950fb phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:53d4ffe9-4cef-4cd9-8f08-9922625365f8 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ed014252-88b9-42b8-9bd0-61175414daf5 phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1cbb4fa8-6b59-4c27-af09-761480d58a5c phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bd008717-3f95-4695-a733-567fe5090c33 phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ac16d954-4d68-4c0d-a1ca-7b4c2e784092 phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b75c2f02-972f-4738-a640-79e2f5b7f61c phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:70138705-eed0-4fee-8316-9649cb670fac phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4d24e598-e064-47c1-ad25-95693a8263c7 phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a43817d2-bea3-4c07-ac88-d0425278ed3c phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:99ae55d6-4193-4296-ac6a-3bd2a4e6dbb4 phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8da9eb9d-624b-489b-9b99-7c6ff9ee960f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a7e02b54-900a-42b4-a24c-ccfb65947123 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:134c685f-1e67-4ffd-a4ec-3e387b6f12b7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:184af0fc-c782-44ea-b24a-98ed7c6b6b2d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fd4f5256-b57b-437c-9eac-13880a940d21 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1a4c5cca-0efc-44bd-b8c3-d1987a574aa7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:dd3436b3-2316-4359-82a5-8f0aa55b1998 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:15b52b98-9c3d-4086-b22c-37afc47a758b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:aa6d5a3f-8f16-42ba-b891-d0f3c7fca7ca phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:67aa8bdc-2168-474b-8385-79956876ff55 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9e6bc8b2-1abf-482c-9ca5-93cad33c15fd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:61361cca-1ccb-4a28-820d-c4ded3c6a484 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:13bb4f76-a7d4-4328-83d4-afed5920556b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b7d3819e-d63c-47b8-8cfa-efabf6995c02 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7a476916-bba7-4b03-8cab-9d227e0ba114 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:aff24f83-6b97-43c8-9a94-cfecb1fcaba6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:11d0a5f9-0ef0-4d8a-8014-8836f8010ff7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ef23d7a0-b10d-4433-9b7a-d2b32465ba38 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8b3f1c82-4c11-4cde-823d-eb1cb859e044 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4c67865c-2a3b-48a1-946b-92cc16afc504 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:26ddfc88-eadf-4205-b362-c3a6d3c7c847 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ff14f585-56da-4bd3-bf8a-b61ca7091490 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0fcfb016-b372-4f1c-bcd7-243dcef2c7f2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e58afcde-7743-4797-a047-be307be01ec4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6e3ed24f-e70e-4e21-97fe-b779f7168927 phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e1bc83bf-cc8b-431e-b875-9fa3ac05e7bb phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cfc66e1e-a448-47e8-b51b-f1e61e820714 phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bddf2d1c-8f49-4062-bf5b-c722de37cf3d phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:155fea9f-00b3-4f70-a60e-d9bf1258d47c phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e2232eb3-8bf0-4607-b348-569c81dd337f phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b75abe6d-7429-4f9e-860f-5962e8e09501 phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:40f78249-0db2-4daf-ae5a-de540d22223d phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c0bdc7da-7d25-4156-844e-bdee8781d278 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:632703cf-e91b-472a-91dd-6c184c4c07ed phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:657340b4-865a-484a-ae89-090002d6b051 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1511370f-0608-482e-930b-81f58a7849a5 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:09cbd6ac-6662-4e7f-858a-eef23b64c123 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3264c240-f474-446c-bfc4-80c849e646c2 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e8a2f49e-4022-473c-9977-71abcc13a5fe phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:fc5f3d8a-9bf1-4df2-9a3d-a6e20ee90c42 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:942440b3-a345-449b-9479-501c45e02b3b phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:69900bb2-1ffe-4827-863a-675928104b17 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a350bf5b-9271-447b-9a08-63ef72de780b phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3f02485e-aa6a-4ab2-884b-45ea6fc87197 phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ce828119-d23f-47a9-aaf2-2f5cfe06851c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0f24bb35-fd9a-4ce7-95ba-ef00f1a1a78f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:47564880-d860-4fbb-960e-1a1b2d536912 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dfedd9ab-e705-455a-84d4-8605db1a75ab phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ad3a3e1d-a1bb-49da-af7d-cb19ccc06b50 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9d89e61c-cb43-474d-a6f3-a13771968ac7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:061e295d-63b7-4b74-ad06-82f33875f6f8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:38537e01-197e-40fa-8972-a3a54a160e56 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:28e0e4e2-0891-432d-bd0f-799c845a71b1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:445b4ccf-b69b-4456-874a-013e41fdb776 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:62a6e9e6-f25b-473a-9407-eaf0d82b34e3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ebd22e00-9c1f-41b8-b14f-ab44b6e287d1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7142e048-8c11-427a-a4b9-d29bbf5a6dd0 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f6a75006-88ad-4d38-9a7b-f217ddae5012 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df8a9999-4de3-42ea-8e1d-65590e5a337d phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0b1c29ac-3d2d-4f5a-bdaa-faf9e6fb6066 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a29066c1-15a9-4d4f-a60d-fd4d31e8fbb5 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e393fb3d-c575-480e-bb2c-c87c23976f88 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fb546657-1d79-466e-85b0-c4f928ba423c phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bbe9ca3c-41bd-4174-bdf4-5b3c540e4c42 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f002a66a-dea9-4b46-a4f9-0bfd43f1acdf phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:246710f4-8505-4c54-b2f8-679c5ed497d2 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c9ef0747-1dd1-4e79-9b73-2e8c0bb7ea99 phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d10e0eba-2720-4f9b-a10c-bbb7df765f2d phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:aab1c447-059e-4fb0-80e5-4e438016624e phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a1fbc2d2-e0d8-47b3-a877-05ae6e1e9538 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7e62ec71-ecaf-4a1a-8d14-27c69de4308b phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:594a45fc-0497-4886-8bdb-2b0d764079ba phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0880f326-1b23-49c1-a063-08d22ad2cea5 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:30ed7db7-e682-46c9-90d9-d1646ee52033 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:28260c92-7ab2-4f39-97b3-2be7d001fe9d phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c22c15bb-1873-4810-9627-c83ff84bd273 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:977f195a-c63d-471d-847e-450ebfd33d5c phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e61f8427-fa55-4463-9bc7-55a84ee1807e phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b31d1014-8ca6-4665-88c3-9c37971c9a0c phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8e6913ee-7828-492c-80be-6c3fa5dc2569 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:63adb74e-b1ed-45a4-9043-b41530b17d50 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1e3c5e83-7166-485d-ad9e-93304648712a phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2fcc2067-412b-4d1b-b783-517fa0fd9b28 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d55ee58e-6e83-46fe-a07d-40a9c2ffaf98 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b683099c-5b19-4961-b349-a95c5642fff3 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5365bfd0-2615-4372-848a-87e08251fb9c phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:fdc34020-13f4-4159-9792-7a960f9e6e23 phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f78c936b-61e1-4a73-9fa7-9f1b0ac23e29 phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bb1bbd20-d3e4-4f05-8534-66fa49866459 phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e48b4d00-d711-481b-b134-5c27bb114e92 phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9ccd2539-0b81-4747-ac00-2d70e0aa5d96 phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:da86e473-918c-4b43-9e67-9fef4dd181cc phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f28ef71c-c051-4cae-af0c-a17e20f8727e phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3999cc71-fc09-41a5-9464-f4ad221df14b phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4e8b1dbe-4912-4f29-a213-71fbec79e5fa phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:91108609-f005-49a8-978e-54b9ed744616 phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:15cdd503-2c2c-4f71-8040-771d8e7f462f phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:358e26a6-939e-4332-9af6-10d53c1083eb phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:932124f7-80bf-4a56-8a31-f0a5e11fe6b2 phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7f44d4fd-384f-40f8-8655-6defdfa7aa2c phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2faebe35-a808-44c2-b336-05efb078f771 phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bb98ac63-9357-4311-91fc-719fef5f4447 phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:55bc288c-cdfd-44c5-a5e7-526e52e48fac phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2d9dfd53-c549-4387-b2ef-2214b7014acf phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:71476adb-47d7-48a8-9321-84f8f8a40407 phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1404e405-1ab8-4f92-a178-06300aad3023 phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b7dfb02c-64d1-43c0-9b15-530006fe78af phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:75a9f2a2-ada5-48f8-a9e8-6698b8dc94c0 phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b70dd3fa-966e-4482-a536-f076fbbcd3db phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:684b9de0-527e-491a-b8ca-729542cef8b7 phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:83e16673-92ad-4dd1-bbc9-c20f65c0c5a8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:18e28816-04cb-405e-a6ee-a84b76cc371c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9703c30e-7173-47c1-8857-be6a3ce3bb2f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d47223d2-3322-41f3-a1a8-7f4291b391ac phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5031be24-d534-4c45-a70d-58871affb5e4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d460fe8d-d5a6-4ae8-bb1b-65fde657a12a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:304586cb-29ff-4dc7-ae67-47565ec2e5bd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9dc67f47-23b9-421e-88c2-c061edb6cd09 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c8adc444-e15c-45e2-9e75-7a435fdbb541 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a34671c6-7e7a-44eb-afd4-d8c5faebddbc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e703e3bb-59fa-4c02-922b-a97961f28182 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:edd23e15-1ef2-42f0-9d90-99773a7c9d90 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c3f3c26e-336d-422b-a0d2-ef3b0cc2fbb0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cb466ed1-8f38-4fed-a52b-50c7e6a43ed6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b4946dd8-c4a4-4abc-8ee7-72f511be5b2e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:43996f37-7b37-45a2-bfb6-29744c2a4c92 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:26e46ebe-64db-4b96-a19b-7f92420d6eb9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0a74c780-426b-46f6-8fb7-3624df9203fb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5f774ffc-4d3d-4fb3-9145-6540ab0c8e70 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6ed4060a-4f93-423f-af46-87541c2005ba phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3bed9169-287f-4c28-815c-b625921591ae phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f99fcefe-eef6-4f5a-bf93-b5d0ca536ef7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4d457389-b007-4264-acb2-f5d5dc9a8b97 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:fc6ed732-625c-49a1-a51b-46484b3fb9a0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:cf60c3aa-08dc-46fe-9a77-cbda11284f33 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f05fa162-e9bf-4d67-abc0-13b3d826c59b phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:507de35e-5603-4831-9820-eb97bc36e24c phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:66852333-00f1-4fd7-935d-2f78298934d2 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:93bf00be-4750-4f1b-a713-a5a9bda4ba95 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:82438c92-ee03-4a3a-abde-3ce6aba81c60 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ad88f8fb-5c9c-4cc4-b51c-3f0d855bde48 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a43b2fc1-1ba1-455b-8a1e-a3318c09be72 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5937bbb1-5033-4bd0-b86e-b68dd1fdecb7 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5fab30bb-9d74-425f-b49c-b9948a4cb45f phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3a3d6084-1d1a-4f90-997c-9c503bf856bf phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ad87b62f-8a88-45be-b526-5b70189c8d74 phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b453a6ca-c95c-430a-94f9-4b062988a745 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:17726ec2-1f39-48e7-97f7-3d0c881af822 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6fc7e0fa-4162-4903-9f7d-324744f37943 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4e381051-64ac-433a-8fae-110791fca0b1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:27b23ad3-4e78-4f70-853d-5b1aa56a1034 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cf6b5837-bd77-4b0b-9821-57214cb48b2c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4b81c628-4aed-4ff8-b11d-83ba0806154b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:00b5150a-7d47-41c9-a89c-d7ac85fb43b3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ac407273-8d20-48ac-bf29-b7f40e6152e4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6acdb51f-2dd7-48b2-9f68-0d9158db7b1e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ba018a1b-68e1-478d-ab86-66b9fabf1642 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b9685f59-a180-4a2b-913c-3942dac2e69a phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c843c66d-894e-430e-9a46-38e478a62fa3 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5f94ff49-66d2-47c6-85bc-fe9eb3c23c94 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4366456c-ce0c-41c0-9572-facd32db0ee3 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9ecae137-a063-44ec-850d-53f96628a4d3 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:42784f7e-8ef7-48b0-9895-7b4aa4b2d3a7 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9fdcc3e3-ef07-469d-a77d-0e49112f32b7 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a52c2d21-8178-4828-a64b-1a8d45e0622c phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:815dbe8a-6066-47e2-b7f8-e8f416a72f11 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:69910fe9-c79c-41e9-9ca7-3c92f5205c23 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:83bbd935-7349-4593-a84d-9374fd8a1dd0 phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b2291e66-7ecb-4b83-8c37-0602592a33fc phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:bffc6ea9-3994-4fdf-96be-b5ff0bfa29df phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e840e00a-cf16-407a-a411-69ab1f168aa1 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:988e57bc-4532-4621-8c09-3e60457970af phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:16894c28-b32e-4893-8e40-869b519703b8 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a9c9cac9-4648-4143-bb32-818c53af77fa phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d8fca98e-c8e0-4596-916f-219d40684d10 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bfbda964-98ca-419f-b99e-c472de75f360 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:370e06fa-a75f-42a5-b166-fcf52b548d15 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:483d3f2e-6e98-416f-85ad-9225a1d85730 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d674f5f4-60c4-44fa-bf8f-b12d71c3c217 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5d30294d-b6c3-4054-ae43-9aa06f152304 phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3d98c9a4-4f05-4322-b878-7483988a345d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:461bfa9c-02d4-43f1-9e69-8cc3d3144811 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9560ec69-25f8-4822-9ba6-7d4bcaa11a9d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bdf37eb2-3190-4ed8-a6ca-b23c26d5037e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1c49e82e-97d1-45d4-877f-b4650a183269 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:510e019a-02dc-4cb8-b259-d5eddb2e1468 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ddda8402-400e-4632-8534-0a88ecfb8650 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a0845b78-5ab0-4b2e-ade5-07caad472877 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:46584f16-a749-48c1-b6a1-b20d33062818 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:69760a0d-2a5c-4d1c-81aa-03fd9e0f65eb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e762e317-d78e-4d03-8d47-fbf61f8fde1e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:27d6890a-e656-42f7-b05b-1882ce5f21e9 phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:aaf7b5dd-f44f-4b53-8bd6-ace0a8ddd4d3 phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b7564248-7a64-45cd-ad69-b67e5674405a phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:10c50cf1-3c0c-4fe3-89d0-3778c9605552 phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b8a42fe0-7961-4118-8d55-8a4f8454ccf3 phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1d717941-88f5-446a-8339-577bd2160cef phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9754fb55-f54a-46c5-a44c-084d9c4bd67a phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9b049884-b2ba-4abe-8b85-b174da646a6a phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2720d825-194f-4dac-8a91-e26734b31377 phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:0ae11033-024a-4cb7-91c9-828f5288b5d8 phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e2b8ec9e-9aeb-4e10-a5ce-a61bb1201763 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:95fdf05b-26f2-4928-9327-8ee2c8baeebb phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df173366-003d-474d-8226-fee0f07ef1e7 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:326b9c89-e375-46dc-be45-a510ceaa5a50 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:91a85897-e9ce-474e-9729-74e7f510e65f phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6cce970d-5f4a-4b8b-92bb-90320f08ef79 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f2fc9c9d-ee0e-45eb-89c1-9a13ca76b6dc phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1a3ada71-17e6-4c63-8974-d0abf819916d phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a7701130-8363-4eab-86a3-46b391e2c025 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e0d7629b-6f6a-4254-9095-37f34b4e8c1c phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0e9817ae-28ec-4429-9fa5-68078e549124 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:cd0649c7-2dc2-4a5f-b969-7ce4fad412b5 phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:191ea99b-f68b-4a2f-acff-e7d414a5c4c7 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c94177dc-9c52-4f41-abd6-4d4a0c8f0d98 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7414f890-7ba1-42da-b733-f57ed56bbdf9 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:23a97894-63e7-43c5-87da-a81d354e2199 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:609684f6-d08d-4d9b-83d4-2e287a55cd47 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:901d4855-3873-4fa1-b715-4f6442bdcb6f phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:24462d83-3177-4b27-b709-e915329cd100 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:20e4fb46-8ff8-4edd-948e-5f3f04d963fb phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a341a48f-fef6-4704-847c-51d974ba8543 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e9703bc1-b65d-41dc-a4eb-8ca88df8d5d8 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ca3d5580-ce62-45e8-b8ff-078f8d520ce6 phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1cf1d68b-8c68-4f64-8ea5-281d0da0779e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5b2cfa31-95e0-4556-9b37-672022ffd1d9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0a538e25-3f91-47af-9ebf-ed8948e3707c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bfccd760-9472-4fe2-80da-cd9d453b17a9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:631c764d-62cc-47c8-8e69-c477c5349093 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a9d22bf5-44ff-4795-bd4b-505367b314a1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b6cc64b1-6cb1-4675-ad01-81eaea68f032 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f17af9ac-4056-40d2-bcde-661ac5701858 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d3e6b9e2-a33b-4c80-85bb-f5ad8c6d4087 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:77ee3df7-fa44-4e66-87c6-2059db0b9908 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6b1969b5-9154-4959-b353-c5b30a0ef5bb phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:254dc49a-a93c-4d4c-ac41-d41fd6dfd4ba phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:21689049-0bd5-4b8e-958d-86250c8660ca phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8a7b259a-f2b0-4f59-aa4a-5839eee21be1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:059ea1a6-049e-4389-8917-1673299f4285 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:852f797c-5b38-4dc1-84ac-5c6e6802dc38 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8d572c09-d771-46f6-a8dc-98f9328664a3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:6cd41c9e-5fb6-4576-a604-de1a3fb5f97b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:64c16e8f-1dbf-4b94-8aeb-25d92d763fd2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:20cbd374-c858-4430-9bfa-aa01e2282289 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bc4e641a-1025-4ed2-aceb-2b737507cf69 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dc892886-5cb9-4311-8391-5017b1a03a44 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f11b731b-bd17-4039-bb85-f6f25f70635c phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3bc75741-6072-4c07-92af-cc181066add4 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:65ab0cd2-3c02-4fdb-88f4-59647f8f303e phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:64718861-e14e-4be4-8365-d3874a170b48 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c1e14e5e-94a3-49d2-93e3-d537d02e837e phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:76bd14cd-20e8-48d8-b767-969417c31cfe phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2f4c2add-512e-40f4-93c2-cb5a508c3d5f phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9a0ed7c5-5d18-44fe-b673-cea6ee05d6a7 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:05705928-4fee-45f6-88ad-da537e8192bd phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:187a271e-d30c-4f6b-94d6-bf19b89dbb15 phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6f2c1348-74c1-4375-b538-62cf453ea910 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fc6a1c5b-b681-4dce-aadc-8f4effd3c273 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c517575e-8832-49bf-a3b1-c312332e47a3 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b6a633d5-f970-4eb0-a503-42d97c7fe9e2 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4f90c103-e313-4597-aa47-963cb52721c1 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:84331374-4116-4c48-9c97-3bc544d27774 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f092d9c0-19db-4a72-bb1b-feb79d29ddd1 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9d0fca5e-1b52-4074-891c-fd027df573ae phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:063da7be-9f6b-46ea-9c99-1818f6559d13 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:23e65297-940b-4ee3-8874-7e49a7ab4026 phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a25a17c6-cc29-41c2-a1c3-a2336c0c820c phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a6121bbc-a912-4b07-b37c-6047d5e9af8a phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:459fb4d9-fe48-4d09-8cae-d77f8b53da67 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5ad5f8d4-e5ba-4110-8f15-20baddebe018 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0dfb5af1-291c-412d-bcb2-95e34ec50ba9 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8ed60dc5-bddc-4970-9abc-214339b19a7f phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:92b9916e-5734-4e41-a36a-83fba33d270c phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8dfc9f92-5ff8-44a0-8994-a3d9f3e8aea0 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e6ffd3ea-70d1-4412-a457-d21dde1fe367 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:630850ab-d3cc-4205-b716-d033f94397da phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:258c1705-5383-4beb-a72b-5f7007edab48 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bd9759e2-3582-430a-8d71-86329112add6 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ea8f9c27-c76d-41c2-8fd7-de606ac55578 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:85590737-cd0b-4f74-b349-bfe578fe83e5 phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:4cd6ae4f-7551-43ed-a4ca-0aedc59fab28 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3708e1a2-94dd-4f40-810f-9d81937e5531 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:78cf326c-a136-432e-a291-6e671cf4429b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:010a8554-7824-4a4b-853c-36aad027aa9f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0a403479-411f-4494-b807-031542b2c763 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f37a8f1e-2a79-4ef3-8d87-1149eb4f4ed0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:412b2ff7-1b1b-4ae5-a253-6f36658349da phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:03334639-3502-49f1-b315-83b35d51b170 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9460cb40-1557-42db-9aae-bac76c2819a5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0c4347c1-9de0-40d3-9eaa-813c49411d61 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5a193d28-d6cf-43b9-844b-5f9327086d47 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1a8931d7-785b-405a-a6dd-13ef8c4468bc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:87195cae-fd52-4bd0-b49f-9788152aa0f6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8225016c-38d9-4ea1-8755-59ce4b698ee6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e47d2b21-4e60-428e-ac0c-cba3adab21d7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cbd25f31-1a75-4b0d-a29b-a1fa31455965 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3d4fa3bb-8851-46f5-9fde-69593904d89e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f65bda2b-e309-405b-93cf-b6392065dbf3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c247f352-fdb4-4644-b9b4-cb46bb35b670 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9a3292fa-7377-4ddd-af76-bd7f2bae5393 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a2731679-131a-4e8c-8589-67f90daaa049 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9d863fd8-b409-4f7e-910d-8d949b22e928 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d783cd8f-2b98-4cef-9393-ec750db700ee phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:171d1bca-2a4d-4417-abb5-aee6c609e235 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c7b898d6-18c2-4581-93fa-624d9d73061d phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:96c28e7b-b6fe-4546-b446-11d61b739e5e phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6ec2c75b-bf30-4104-9998-9290d19b3e6e phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e4835dc6-6d10-4fa1-90a8-0551987c3785 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:953732a7-d3c5-4738-adce-a2c5585aaa02 phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f0c3ee3f-64b6-4cab-a43c-f3ff9c7863c3 phenopacket.store:SATB2.PMID_31021519_individual_from_Farwell_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:49a99cad-d40d-4989-af33-bd7eb863b610 phenopacket.store:SATB2.PMID_31021519_individual_from_Farwell_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bbc35770-c96a-4c64-8574-3d42bb71b5a1 phenopacket.store:SATB2.PMID_31021519_individual_from_Farwell_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:26e81019-f231-45a9-953b-b1a84e45468e phenopacket.store:SATB2.PMID_31021519_individual_from_Farwell_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:04d8d87c-1245-4213-a9e4-63efffed6d97 phenopacket.store:SATB2.PMID_31021519_individual_from_Farwell_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1cbd3c4f-de73-4d47-9f4c-45010fd3313b phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:66d122e9-7d8f-44c3-becb-6b5eb73d29a4 phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2c07079f-01a3-4d83-892f-9d7ddaf3df17 phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5949f48d-8b3b-446a-b992-d7be99e9d16b phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ac7cbefa-8130-41cc-96ca-430a103c874e phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:93b9b42f-72b5-4abe-bf7f-8b568b5d55a1 phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:644dc851-1914-4d7c-858b-9a42cd08deb8 phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bcfecde6-27e0-42af-a3dc-2d8f1ea80a5e phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c3a7937b-809f-48b9-a497-29e388422d44 phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:92541e55-5ec8-4e86-a627-e60fb82468ad phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:c68f31a2-68d0-41bd-9093-43c23f642c77 phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:cd9f9390-64b4-4730-8aa0-5f33bfd97788 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e3c68c20-fcb9-48c2-a51f-9df07a7cb6e2 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:794784b9-9a94-456e-918c-c506c0606dfc phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bdc2f2e6-54dd-4250-a202-c533bc2cc4a8 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3ab27cf3-9e59-46b4-8feb-46cf4761d49c phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ab8a1bfd-5aa3-4b58-800f-f0221e13683d phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b736b8eb-d678-4ebb-bf2e-fe08d04e30d8 phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:dc8c6f9c-cfec-4de3-9679-ffa7691bac8a phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:71e7f135-466a-4f22-9b10-fdc27f64fa9e phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8e3d83e1-ddfb-42a8-bddb-986dfe375d35 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:626a19db-8da0-4481-a87e-632a5636158c phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4f5ca79a-d53c-416f-919e-45c9867117c4 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:037c99d3-558e-42b2-abba-4591e1b931f6 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8ac61d53-c33d-4aa3-865e-aa39df27b231 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:377b3c08-9fdd-4020-bc9c-83e2f685e7a2 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:427621cf-cf59-43fb-a0a1-dac749119091 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:9c506d37-9354-422c-a5e5-073176122da2 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e9930d2a-9995-496a-a2a2-52fe5cf43d97 phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:04c46de6-cb13-4a33-bf94-3541d2c1fa23 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b97f4bb1-a6c2-484e-8b0f-86c039e06cb8 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:92b96bbd-cd33-468a-877a-ef54a6241ad3 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9db85a9d-24c9-46f8-904d-fd432c015e55 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:82b45b6a-3745-4aa1-a5aa-14f51845e4a5 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1aa7817b-a073-40f7-a363-c75cf2ee485d phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f82d8637-54c0-4236-96f9-14e7f191f917 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4400fb3c-3028-4272-83ba-c7867eed987c phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:00ccbccc-31e9-4a5e-a97c-92a2a9de5132 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:98a653ed-9bba-40f6-ac5c-e034c2fafce2 phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e8143cf4-0cbe-4e41-b603-28b62ebb110a phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1a98d8f9-1b87-4181-8a07-a71fb2993863 phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2004c8eb-56f8-4ba9-928e-a795de7b677e phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b9fa3fbf-62d0-43bc-b356-2bb051341d31 phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:53aa783b-4713-49d3-95d6-e473caa3c474 phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0af58300-16e0-4fca-ac2e-c565b3007802 phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c4827527-ade4-4d33-b9de-9455e2ea7192 phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:1ce1a5a5-e7b4-4bf4-8ad0-322d92845d4c phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a7b1ada8-8a80-434b-b0c2-7bfab22c36e0 phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3b351431-100d-459b-b2d6-81471204878e phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1ada8a20-c426-47b3-bde0-61353e50d2eb phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9d53a83a-d258-4b7b-b5b6-a405e6fed23a phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:726f54af-a811-4207-9f63-fa618818c8a0 phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9137dece-2aa6-4cb5-95eb-c1b4b097c58b phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:960b10eb-122a-4193-9b3b-cda81ef9c87e phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cedc6bc5-6cd8-47f0-8eeb-7d29abd1bb0f phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1894e367-0c83-4dfb-8aed-802eb9422335 phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:32452a88-621f-42a4-98ad-2c869a5e5ff4 phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:de18ce31-530c-462a-9d35-b60f46719602 phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:29d06a42-fec5-4e25-8b8c-b45e020fdd92 phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5995df22-073e-4a45-9e00-0372306de96a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:50c7ad52-217c-4bbd-a055-0a22caad98a8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d41107d9-f316-47f5-ad18-95b412984c47 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0fc971a1-5f60-47e4-8b08-b194e49dd20c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d70f8161-16f3-4dc2-b48c-b7f10e3dae7f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:06caaf43-1dc8-4863-a002-70d5f88bd222 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f91c4c67-1078-42d5-a62b-0c58f5a04b4e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b46fe317-4202-4aa9-ba9e-b97dd8822144 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f3a8bb66-af95-4226-8644-109b223d1743 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:edc36156-8739-45db-a188-7d9933a33f2b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6d301c78-6406-4a25-9108-ef90e57c25a5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9c93cf5e-2027-44ba-a90b-ee31a8c44878 phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ce207958-68bd-43a4-bff7-60adf152ea78 phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:10613134-5d80-407f-a220-0baf308a70c4 phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b54accc4-eef7-4fc0-bcb0-a0ac152207d0 phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dbfc8ff4-d669-4ad0-a949-839041a0bfcf phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bf602576-a4ef-410e-80a8-53832fd5e12d phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:12e45d0e-cac5-4f03-9fe6-861e7a7775a0 phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:29f5b211-8859-4885-8c77-e52a7d4dab2a phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b4ccfe07-3db0-42c8-8668-a7ccc9296cbf phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3c8074e6-03d3-4ae8-a73d-e4f82f313580 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ac7dc5f2-aef3-4a9d-8759-0738b1113b77 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:75e3c966-5f53-41d1-86ee-4bfe8ac5cf66 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:17a041b0-d78f-41f9-a4e6-90219c3c2bf9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9300d21d-38b3-4c0c-a471-5d53dd842c7e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b33a8036-7419-403a-9e90-c201404ae0c2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9bc60914-a63e-4b09-a1fa-564f4af615e6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:549a1a45-92f5-4c4d-9724-5af83c3e3036 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:26706467-e3be-4685-b13b-268e450094b4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:130b237b-2345-4213-b537-0d594310c1e2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8097fb5b-2062-47fd-b9f9-b1ceb9c8bf48 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f315e21d-ae4b-4b79-bd75-d118b71be704 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:973acd74-bc7a-48ae-84f6-06418f0ff2e9 phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f1ff656f-8e7a-42d4-bdfe-321f741ae00a phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:223bd6f4-df29-45b8-9eb2-862dea8f4b0e phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df62389a-725f-455c-813e-115ae761f37e phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:03bee5a7-6cb3-4c9b-a94c-e31bd6653116 phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e9bd6e11-711a-4ccd-8d46-d7f59e632228 phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a2ddfa2c-cd08-4e5d-8be9-136d74a1ae84 phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9ad50118-7076-48fa-8a91-4713bc39602d phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7dae31ac-71a1-45a0-949e-9a3d4aaeac08 phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e9370d9f-3d64-46c4-a140-aac8ebb6788a phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7a16ca30-9325-4dbb-a1f1-b6f44f131cb3 phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:db9cccc4-50f1-41e7-a1bb-a213e91eb03d phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:01f225fa-fff8-42fc-97a9-942fb3ddcfd1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7404c1a3-3fb0-4455-af6b-178b462be0fc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a153b987-2bb4-492e-9b48-e330c0f91ade phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d5e8ccab-d6ff-4624-949d-1512e0b8b6be phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f7e2fb67-66bf-4882-9773-38189a24dff4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cc984877-5df8-4f16-b004-87f59dc53019 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d8a9ba89-086f-4ce7-aea2-07b92b5edcaf phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2c0e0073-33ec-491c-9486-7f83f17d9639 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dbffb99e-7940-4b28-8702-891b6094a2c5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:85ba430b-af47-4241-99d5-83f6a6888565 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b16d9a96-382e-4739-9fa9-55e65502aae3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3fe6a6ed-f30d-46b8-9efb-d04a2f22e256 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a50b05ca-4802-424b-9de0-7a5c6add188b phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ed58281d-c99f-4117-ab41-a6a24a25bf1e phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:caa609bf-7d79-438a-a1dc-1a9ae4d8920a phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:28bdb646-305d-4d49-8ebe-6fc2ca67fbe3 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3f921a93-ebec-42a6-81a3-15ecd2515559 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5e33a111-ae0e-42fc-8edf-fad2f5e3e1b3 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5374c1cb-b202-4120-b540-29bc9b6c4364 phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:3be95c7f-8298-4f91-abdb-8ff34c7f8b7e phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a43fdfe9-5328-429a-af3a-2bcd69b05bf8 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:76a72635-8789-4c5f-a420-fef3947c42a2 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:33be75d7-df23-4ebf-bf36-5ece8339dabf phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:85dcf3e5-0ec8-46f9-8331-e0a89dff1bd6 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f830c226-2b77-4632-b77b-98e792aba106 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c67c3118-fad4-423e-bdcf-f140f2ea661e phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ef44f3bb-f879-4ef4-9a6c-add7fcf16716 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b9e6e0bb-8751-4c1c-8dd6-9210e2391e68 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:fd9c2234-5cf0-42af-bf9b-ab5cfdc9a9da phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:39cc3f04-2728-44ef-8271-af37af846411 phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:05f49d63-ac7a-4cdd-b563-20e1bde826f7 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8d93a54a-a417-4a82-837c-e265434c7502 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7b6b4071-3c61-408e-bd18-a3c0704bf1c9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e114b8ca-253a-436a-a061-b1d61f134f37 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3b3a7ca0-e0e0-439f-93e1-00af6eb7a3a4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:34c7778e-649c-4dc8-878b-fd9b4eec3b46 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:504a8c95-b34a-4f8d-be26-f34ba3f51ba0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:eec5bb34-188a-44d3-b2a8-96d577869f89 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:71123fae-fbf1-4fe9-9e79-6fac2ba8f96c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4cbb98b1-e65b-4d69-b31f-8261fb14b5fc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7980eb8f-67fa-4297-82e8-b42d3bad9f11 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:73f701d5-6059-4bec-8fd7-bdececb683c9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1c9dd3cc-3a5d-483e-8698-7c073ae25d46 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a9e116da-783b-4d8b-9d25-9cc69cb190a3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8f17ac7e-1950-4031-89e6-733ac71f0324 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8533f692-c953-4d28-aa7a-eadc653e5d74 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:620f92f1-f22d-4a10-a39e-1eac97c074dd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:24a479d1-95c7-4b83-873f-6f5bb5f0f010 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8de6fc5d-aae8-4e68-a680-b169ac13e0e2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f8157d6b-4894-435d-9068-6b2004e7b0aa phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5146705d-ea99-41d3-b031-6fc061638d9e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:f105a071-263b-4e72-b46f-b75d07058849 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b29e8ada-c2b4-4cae-8532-ed7fda334050 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cb6d09da-e326-457f-bfa1-49ab948b07e2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8dfe8e30-7beb-4cc6-a2bc-7880f50c02d8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6dfa8c54-c274-4698-a65e-15ecff5d1438 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:895c98fd-3c3e-4617-90ac-b87d8818a013 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9469dc94-ec53-492e-af7e-d61335c979f3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fb9736ac-94a2-47d4-ac5a-f228964fee53 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2e35c0f6-79d7-4561-aa10-f5dada25378d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:129f830f-6dea-49eb-a52e-5912929919c5 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:2ea81136-f665-4c2e-a4a1-ff142aed6f4a phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:54e89c5d-edad-4f80-9274-7cfdb2e3391b phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0b235779-4912-4439-a067-a3c3b75a648b phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5aa0bbb7-6f84-43df-8c2e-4924e1f5d892 phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:711a817f-a037-47f0-bac3-385d3d59d8e1 phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bfa83ca5-3937-4073-bc18-de1ee08694ef phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1bca352f-3c0d-4bb7-9ee3-85dba968a6ed phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:608b482c-ec52-454f-bed8-c0a878b17dab phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d5c3a8cc-4155-47cb-8446-997124688d90 phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d5fce1fe-d3b4-4260-ba10-36f7255f0e15 phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:37fced1f-b23f-438d-aaf8-754e780ed727 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:29eca821-d087-485f-8ddb-510a70fac9c4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cd439174-a1df-4005-8e8a-b90b5dfd05e1 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fd724fea-476d-48b6-a28c-8f4c26c0a704 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e02f20db-bbd3-4624-bf80-6c2706f48be3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:16896af1-c40b-4e9b-8d4d-50663607d6db phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:005b2a3d-a43a-4052-a7fe-f39905cd0a4b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ba3e0630-91b4-4aa6-a828-6cf9d0202db8 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:da97cff1-956b-47e7-9746-2b326cd35c59 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a1fc8ac3-c3a9-4689-bf5a-654b059a7477 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bc30d789-1f8b-4ab8-8fb1-ac304dfcfba4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:035a8d5c-7644-4013-bc6f-5ee3f6063788 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5c4569ee-49ec-4be8-86e7-b4e7585c8fe4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b9a86e25-a5c6-4d39-a259-6ba4ca9f130a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cfc7cfd6-4462-4acb-8f95-a42ad9bd2592 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d3bf1837-ccdf-47af-b510-9f6bbb26a2ef phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9aede5c5-8891-4265-9102-4aaaf9287c19 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:38abcbbe-1480-41cb-942a-1f4e3e41e369 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:088dce68-268c-4669-8910-b4d5b0a4b275 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:ef1775cc-43a7-409d-b2e5-f6e3b5a33d40 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:544ac4be-8ec6-4284-8de6-04ff59ad6969 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8aba2ec7-c0f2-4780-adda-ab1f65c20fbc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:bc30e618-1841-4611-ad3b-7b883e7ff4dd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:57612f1c-fa97-4056-b5ac-12ca5416ab55 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2545f282-7e44-4f18-94ca-8f64663b3f56 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8e03fa7c-f873-4ae3-b1a1-bb728e288530 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:31b26126-a8a3-4b27-a2c3-294ed2dccb2e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ee2f305c-d8a4-4d3e-8cf5-35daf9a50b99 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d5296a4a-4bd4-4275-a2cf-35779edbc074 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2c6ac29b-251b-4888-9a48-156a330430a4 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2885fca9-9f10-4554-8e07-cafde9fd2bdd phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0d748240-236d-4812-b7c3-c627ad4c98de phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7915b25d-e149-4ffb-aef0-3d2258471584 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6c56bc0a-6d44-477a-bac9-f5ae5a0958e2 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7db1a1be-ecb1-4ef8-925d-808f45177e5c phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e33dca3a-abe7-40e7-b473-304c14a638bd phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dfc7e53d-ce5a-45ae-994d-20713248f411 phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:246de6b6-9472-429d-9380-5d16ac285980 phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:110eb454-2cbd-4379-9203-81fc065057b3 phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3bc8d263-3998-4ac0-8bf5-b12cdd884312 phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:707df9cc-6f4d-493f-8d3f-3921c95025a6 phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:665bd4d8-7903-4a8a-8f45-782c3448318c phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:82964ecf-87ea-4d90-8330-c529eb350d23 phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d74d38db-84a7-4712-ba55-358a03852087 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6d13c227-c010-4b88-ae90-1e4124b13ade phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ae473c89-57e9-4015-b3cf-f12e77560988 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b746ceab-1b78-4b3b-9ff1-a30399f27c47 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c118adb0-360c-4fd9-a1ec-c4c911152d57 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6fc5ef22-ab9b-4a5f-9e46-696eda618ad6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7fc6d1b0-9151-48a2-b896-eb0f58030143 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:25a18829-0f70-47de-8322-fba64e59db41 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:884319e5-d3f1-4121-8167-e47aba94a835 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:09586a5d-91e3-493f-882f-e43bb1a91fb6 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:befb2992-69e9-4ca4-9802-5a2d7d06b24a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5b0a41c4-3716-40ba-93ae-a24d5640d575 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8a6f6531-b5e6-40d8-afdd-8d28716e42ca phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:6526a697-61c6-4b32-87d7-2093071039b1 phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8bea1fd0-ad73-4f8c-8a79-c9739066cf64 phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4980b8ff-4c6e-4568-8eab-06466dd8b51f phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c37464b0-a1b7-49ab-bcc9-66068a8ed552 phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d3289b58-6e2f-4eac-8417-d3fde9b3237c phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:379b7b78-e6a0-4963-a373-23734c33092f phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d23db179-3bdb-48d0-9e37-8550309b2b6a phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:54f86937-bf39-40be-b8a1-1fcde1d6868c phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8edce66e-f73f-40ce-aba5-52ab98b589cb phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:646bab56-f0c4-4744-a8e5-1734227bbed6 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1b18e0b3-609b-4c8d-804f-de8f3e711ec4 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:773e44a4-43a7-4da8-8cfd-7ed85120f3a5 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:119d1d85-a797-4665-9935-c17a218c0e6a phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:92341855-297d-4fa6-b0b5-996d0a9133f2 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:14d7c5fc-9431-40ed-8888-0b8a445e87bc phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:21c9d164-cdcb-4f06-99c4-12a055214550 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f62188f3-226d-438e-a055-e39b88dac1c6 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8dd033a9-5ac6-4750-8f4b-55c089ff5fc1 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:1e9c4f89-70d6-424a-922f-20a14745fd52 phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:eb6018fe-27a1-4378-ace9-8f2b5a22817d phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:61baf469-66dd-46e3-aab5-530cf1291229 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b1385e38-d00a-4cf3-91c2-607c83857d6d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fd29d151-6baa-46f7-b415-32e21ec7fd28 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ae4ca2ad-2c42-4990-af8d-08e841a6b679 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:50d37f06-f127-4a62-911c-77b34ad05f79 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c547bebb-385e-4ad5-9295-a16cd17b1fd0 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:721145d0-414e-468c-a759-be8d3cb682a3 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:99138b44-eb39-432f-a174-90b3ef92f3e9 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:be13cc61-153a-417d-a96f-230319bafd0a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:12aa6fcb-c558-4c28-adcd-bc5b9bb5ab1a phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:29730cf3-7667-4627-b822-565e12fbbd6f phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:092e61ae-3ca6-4ef3-b14b-72de5241ca8b phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9b39d032-8d1f-4831-bb9d-2e7fee17a4ab phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:109b0d15-c48c-46d0-ad70-3dee31b26731 phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:430f4946-e5cb-4e8e-8d82-e1e3eb929010 phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0d1b0a1d-bbed-4fe4-aec9-f5f1b46c360c phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3225caa4-983a-4873-bf21-9c260f055dc0 phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:c8c1f8b6-abc4-4119-b3ef-897cb7cc2400 phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:8390d944-c13d-46f9-8c7d-c66cf6ce4f40 phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5b9a19c3-e0cb-4d49-a1d4-3a1f68f860ad phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:499e1d62-7a9b-4e25-9d82-2a5f64e0a280 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:355fb9a8-60b5-4609-baef-8e04c58ffda5 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5b57e4a1-d967-433f-95f6-8a232d23fdc1 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4d88e4aa-c9ae-49d7-a2ff-b26fd2220ac5 phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:d8e594f1-4d85-4244-98d9-8705129782ed phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:30245d5d-8601-4382-ad6c-1e2dabd8014d phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:545a1fb0-d96a-4c54-b0fe-197c7f8e696c phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5dabd851-0a19-4f86-a2ba-6ae3d497bfac phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:632605c6-852e-4959-aca5-3db4f8901dda phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5ef3692f-39de-45c0-9aef-9e0d0f5d668f phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:499f890e-7a3d-40a9-a9e8-c00f0d16f71f phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9eeaefcc-5e3f-49ad-ac44-a1503db92e5d phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:784a3311-5fcf-4ff5-a2b8-6a21ccb244f9 phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b13c529f-4b93-4265-af0f-6d4ddf236c0f phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:621bdfcd-1fd9-4c26-80db-b0267a0698fd phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:08429863-4dba-4ec2-baca-59e294170497 phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fb87d526-87f8-47b8-bcfd-8bf14e89c9bd phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5b32e56e-316b-4544-8612-dc1b6413acdd phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:272f3a5b-3981-448f-8979-decdfdba91ec phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:0ef7a919-b1d4-48da-9c6e-48eefc521cac phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:a656b118-e771-40ec-8db5-9a997e0bf5a1 phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:90e7f847-5acc-4c6c-8d72-8ea67abe20ac phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7625f547-60ed-4092-b847-c6a04328c8ba phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:29de6086-69c9-40bd-a0a0-f0dd7a7457d5 phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:5fb94261-ed32-410c-b3e0-8d2c73571da5 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:17f6a1c7-e21d-4489-9d90-a3433a2ad48f phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:29789562-fdd6-40c4-ad86-0cee606798e0 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:fcef7cd8-205b-4781-8bb9-821d234159b2 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2435d3e7-3daa-40a3-9f80-de1c69f913e1 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:47e7292d-7d25-459e-9f17-18492ac24fd1 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1828b56d-1aa8-4aad-9101-a86beb1de82d phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1b403847-d272-4a9f-baaa-6534e8c64e7f phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:bf071bc1-7cc8-4a72-976b-677330549097 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:5c3eb41c-be51-42dc-a0c0-33a02edd1bd0 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7231ef34-27bf-46bf-bef0-de2a40a56876 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7fe9d895-1349-480c-b404-22b8baeacab7 phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8e8bba71-e6b5-4030-8392-8e7a3143d8df phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:65e024d1-a4e0-4f5d-9a98-fe7fadf9d01f phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8ce9baca-c208-490a-8eb3-08bf63ae447e phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:244db70a-20d4-4337-afe7-fb4f85410b8d phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4d41ba3b-c25c-44ea-993e-94edfe574531 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:40fff302-1b77-45df-8df7-6f6f0a81ffe6 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b465a344-f06b-4a13-8ab0-48261cd8e602 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cc5fc054-7e64-418d-b5cb-b5814d1f7249 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:7dc6571e-d071-4db1-8931-cc85e92e25d4 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:646514b8-b317-4c04-8954-8ff6049d3da4 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e5b4211e-52e9-46aa-bbff-963487da049a phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:905cf68d-a235-43bb-a7d3-3f0bc1010bc3 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:99e6a835-5bfd-40e2-99db-5f4e12f8f576 phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:15b31a1d-4447-412f-be3f-de167680d545 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:72556fe3-b5ac-4d87-bb5b-c7a36e7a2632 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:16856fb1-b032-447c-b7e6-ec5c2b57b051 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:660f0ae1-5bdf-4846-9555-b749cb5884cd phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:da12fc97-3484-480b-88ac-943c1f8cf6c0 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3a30b26c-0ce2-4afc-a15b-7294ce0027eb phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:0a846085-a753-4361-9c17-f6f9c6eef5a5 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2231e338-393d-4a8c-b9f5-43288258e012 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:57ef14d1-b5ae-40ef-80b1-4c38dfd42195 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:38857645-3bd0-478a-bc96-c5519624cbe4 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cce9f9f9-d4ba-4308-ad18-6b5c6648fc91 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:df443643-2722-4ab2-a5f3-d119a24ad4d8 phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:a3fb27ec-40b2-408f-a74f-8ff6ecbd5dee phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:399275be-6e02-4659-9a85-2b05d0e7b87e phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:98ff30a6-afc1-4f80-bfc4-1fa1563b0685 phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2b7f56e0-e5ca-461e-950b-80bdac5a9d1c phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:79ce9585-cfc9-4e6a-a9df-3b68911855f4 phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f42157cb-0b9b-41bb-9bc0-aa8ec5adbb75 phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:e028c40f-4f96-4cea-9d4f-6cf3eae0b71b phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:2777d17c-0b23-40c5-b656-1bbc238027fc phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cb64f344-2e71-4120-b2d0-6ef01d4c9c90 phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:4cfcc6db-7dbe-4fdf-a986-c5e4e42c5828 phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:ab2f2187-0d1b-4f73-9152-0827c07ba400 phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:9dae8070-0ddf-4fb2-87e1-fd1fdaa0f3f8 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2c957a83-6fc1-4c0b-9f54-ebe1ad0c68ba phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:34abc418-8c23-4138-9685-e3f65dec3bb3 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b9c73398-50f0-4ce6-83f4-9482002a198e phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:f9fbfaa5-3996-40ee-80c2-630bcd06fc48 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:2385035c-f576-464b-b4ab-5c1965cb8b79 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:29dfd4e7-ca45-449f-8d16-e5e5e8091065 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c9b26654-80c8-48b5-94ae-ed1fd5b3a286 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e8b885f5-f5d7-4156-a1d7-dee79d7b1385 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:582cbf8a-39ef-4530-8726-5cf540df5ca4 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:604cc3e2-36e9-434c-ae08-8c2a907715b3 phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b0f429f4-e4bc-4f6b-9540-2fd63f7a8d6b phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:8f9e87d1-371b-428c-8c44-e4d4a49904d9 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5523c518-5407-413b-99c4-ac4f1ed8116e phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:3927e9d1-8766-45e5-997f-26a6508eb327 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:34d562b8-eb5d-457f-8ebf-c459326e4022 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:47f50b11-d180-45df-876b-b0ec3aca810e phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:dab1bb60-b1bb-4d48-93c7-ffb55ab14fa0 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:9819bd2a-fd72-4605-88cf-aa8349c23283 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:c87497d2-37f7-4221-ab83-9644e79b42c6 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:18caeff8-b7aa-4e8a-8808-f644568f91cf phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:01fcb09b-5099-46a6-b420-7fdce32e1863 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:e41148ca-edf3-43cc-8fb7-2eb1dbdcf145 phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:7139aa62-32a7-416b-a11d-4109e496b696 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6e342b4a-0012-48ca-874d-ef01cd0fd5d7 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:28c4f376-f32b-4f2a-b980-92455d077e9f phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1de18909-57d1-4bc2-8dcf-d927ec68ce95 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:5efc2748-af9d-437c-a9a2-60180cfc0900 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:a003a2ec-f952-44f1-b0cf-4e5e94f12bdd phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:cf22c733-06e0-4a21-93a8-bb3681330057 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:cd778047-d6bc-4c59-98a0-2e02f76f4524 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f5cf7cf1-287d-4921-8720-bceccf31f6f6 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:49c38577-a8a0-46ef-9fbd-5d8b1d96678c phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:59bb7bcf-d261-4306-b78b-0fed3525c357 phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:09cb9562-c73c-4406-b107-bf09654dd268 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:b1fe2601-9af7-4104-b3dc-4450822ea291 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:64564eeb-1ba9-4ad1-94a1-147c3be54808 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:658ecce1-c82a-4c88-b5e8-f15175b06a6f phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:d1c82d89-208d-4729-a8b5-376b8973f7a0 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:74e64949-f29a-4ad8-8638-5075e1728ddb phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:088f0195-4d88-4a31-9ab8-cea8bdb938f9 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:3adfcdeb-f846-4787-b065-454ba3c2f873 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:416960a9-3282-4695-a905-8bbe8a0bc4e5 phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:42cfeb8a-763b-4f1b-af57-fb6d6ae46e06 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:45a8488d-7fb7-444b-ad5c-e5a7872a436c phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:1fafb1c0-7414-465b-bd3d-7be25cb50756 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6c14912c-71ec-4211-80c1-3755fb0f0216 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:6a015405-a628-42a9-9dd3-22d3ae126e2e phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:e0c25994-a78b-4e8c-b8ab-af2a79b836ba phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:df95b08a-df2e-418a-992a-9147cda7591d phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:7e37faec-ee20-4519-a069-de3f18e592ac phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0410263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4154dc73-763f-43ce-a1d5-a4a39d635777 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:fcd0132d-3fc9-4c74-8ab9-21c9692e224b phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b83044d4-fdba-41d8-ac64-106cd5915050 phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:317ed481-cfb5-4b52-87e6-3706799f3adc phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:b9f150af-5e96-4375-ad19-21a662dcaea2 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:039d6d47-8bbe-49e0-a085-7e77b5657a7d phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000164 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:80e58ed3-5159-44fd-ae3e-57d5095e3e41 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:4ed868e2-31be-4402-bba4-f40fe9dd78e4 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:ba5755ed-135d-41be-ab2e-99bbf77c4bc3 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31021519 uuid:8b8715bc-0b1d-4cd5-a208-f456050960a8 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:bda79a8c-4467-4bec-81eb-dd9cd9bddbd5 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:f8f70daf-db19-4bfe-85eb-6c81cec8a7e2 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:b11861aa-d182-4ce9-8249-55e861a7b76c phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31021519 uuid:06079909-c508-45b0-be05-0a5cc6e0e9ef phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_disease OMIM:612313 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:d1a309a2-cf7b-4387-bd79-c598c2a82354 phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:has_gene HGNC:21637 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31021519 uuid:785c97b0-3920-40ca-96eb-10157f19aa63 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:388ab4b5-9c4f-412e-a7e8-02e7cd067ae9 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:31751dea-2f12-494c-a36c-00ba6e718280 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:56cd184b-937f-4ce9-8107-3780061544ae phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:9e0ca494-67db-4155-b02e-18dbaece1d7a phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0009085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:7a935f70-f7cb-42ff-96b2-7080dc5c2ca2 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0000033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:e27cae0f-a202-499e-9d4b-72e5a19119d5 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0005709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:12812989 uuid:eb9cd568-780f-47ca-aeb6-32446019e7a1 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12812989 uuid:1ba0e8f5-3b69-470e-8f08-e5fddb49e752 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:6000199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12812989 uuid:1ad373ee-339f-4af9-9011-14f3d1e87753 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12812989 uuid:4858aef3-4a63-4d2a-ab89-f36653d92d22 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12812989 uuid:e1a520a7-5b1c-4a8c-9b97-80b8b1bd9ab0 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0200133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12812989 uuid:f80fcef0-2898-49f1-8b12-d508a9103c55 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_phenotype HP:0005768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12812989 uuid:f1c0f475-0b48-4280-923a-1818c4007162 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_disease OMIM:607330 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:12812989 uuid:3885279c-5e91-4871-ae5c-1d45db202003 phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:has_gene HGNC:10547 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12812989 uuid:ff47e854-22c7-446d-878b-1a5dbf4d427b phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:17853487 uuid:c0c39760-dcd1-46ac-9d11-9f03dd3b1114 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:17853487 uuid:89dd90d7-6b3c-48c1-afd9-45b6d5aa0585 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:69c8470a-baf5-4047-8dbc-204826b52faa phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:fb739d7a-bcdc-4ae0-b7cc-e491c3d5a3c0 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0005768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:e1ebc63f-2706-44e4-ac96-01be64cd5e92 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:7eb65f93-8f10-48a6-a2c2-cc5ff651c3ba phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0005608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:19b631bc-9001-46c4-b488-f6abd2a0df43 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0001406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:ed7ee610-ae4e-4318-b7f6-09e8a2ede9cf phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:74d679b6-aa84-4d0e-ad45-510d8bfb2ccd phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:af8cc85e-2710-4785-8794-6d681ad5e5df phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:007065ae-6d4c-45a6-9a67-68366380ebb7 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:9d9818d6-5816-4e0a-b7fb-73000b71e3c4 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:52f9de41-2d72-4e66-8d85-b57cff181be6 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:086b74be-a923-4ca9-90a3-6be383300b15 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:938f0e89-4d55-4a6e-899c-df5f3bbdb732 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:99f1fc9f-af7d-4a2b-98b7-c28117216f3c phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:2119352a-f650-458d-be2d-e1da2e175762 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:7f72d18b-43c2-4706-a7b4-fca03cfacee9 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:779dea3b-2925-47fd-95b7-61586c158c4a phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:14a97b41-535e-4cdf-bb22-24b4a0439e8e phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:774032ce-79f2-4cc7-9fcb-7dbda4a7b7a3 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:36563164-8090-496d-b448-0490e35d809e phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:033033e7-bf1e-4425-8d53-d69e0b0c15f7 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0034936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:53fe3e4b-b276-4ea6-a757-958d8043d73d phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0004823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:83d8d0b2-b1ac-4013-aef7-cfb0cd64730c phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:d71eb1e1-4eee-4b37-97d3-1be9953f945e phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:4369425a-0210-4fef-95ee-93d4ea686d63 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0005709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:beb99c24-918f-440e-8064-1c3f178d96ef phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:d08bb252-2a4e-49c9-b959-3d619b3b206a phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0025660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:aceb45be-fc5d-4809-9f4b-9d99dd91dc5e phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:c7fadc50-340f-4ccc-81dd-208faf1f1d90 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_phenotype HP:0200133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:a3ddbbd9-31b3-413f-b35e-5b0188a5da93 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_disease OMIM:607330 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:17853487 uuid:bdf1045f-071c-4793-9ff1-dc6c78b94872 phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:has_gene HGNC:10547 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17853487 uuid:2696664a-5a63-4aa6-9dbb-e3f47ce19de4 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:f9485226-d9c6-4f67-878e-7bc181abe90b phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:3ad7c40b-cb1d-4cf5-a02f-25b989d16617 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0025660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:13edb461-1ffb-4787-9176-3238a797b01a phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:d590b549-c87e-4c69-b7d9-5922b1d5b54d phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0200133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17853487 uuid:b970484a-769c-4057-ba82-9415948f4627 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0005709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:b98cb753-4ea8-455b-9ce2-9d4a2dec134b phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0001830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:f1fdfe86-5176-4333-a1fa-ffc70523eb27 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0003609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:bffcc635-ece1-4e34-ad92-5e7b2c29818c phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0005768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:60d59943-64b1-4d68-a848-1b2abfe97252 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:4d366671-fbad-45b5-9884-536e95034ee7 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0005608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:4f0c8d0c-fdd9-4a46-906d-ac97d3a7723d phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_phenotype HP:0001406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17853487 uuid:aa5cf933-5285-4066-82cc-fbdefe8766b6 phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_disease OMIM:607330 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17853487 uuid:db9ee34c-e080-456f-9246-85784dcb228d phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:has_gene HGNC:10547 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17853487 uuid:708349fc-1d07-4381-88a2-11c64b2fc4ac phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:9c4e3928-8049-40a7-b90e-e7eaa476c0b3 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:aeeaa7ed-0242-47dc-883a-a537fed1576b phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:58490e71-3be5-4de3-b4f2-4608c06d76b5 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:c519be8a-4e2f-4e9f-aad8-ef0b091c9df4 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ae00c990-fdde-404c-9a6e-142700873168 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:f92acbe6-dd4e-41e9-9c11-715402ca0fc5 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e93dc3dd-21c9-45c2-bd2a-f3a572d5d91d phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:0ea75726-0317-411f-ae60-c7519433fc94 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c0ae2be6-43e7-42b8-b05b-9c592c0cd551 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:68b50216-52e6-446b-9903-76dd52e973e5 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:b0e6a10f-86df-40c9-899b-23c5d56420d2 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:63884239-a330-4373-ae12-a808eb8e614c phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:5bb23744-1c57-45fb-b5ef-865124ce4c79 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:b09e53b1-c0cd-41ae-b3ef-1cf623784c20 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1231398b-1a9e-425c-a93a-7a3c14b6fe20 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1f9c720b-bddd-4ab2-91bf-93661660f845 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e5df7eb9-a382-4486-babc-c61bdafa2eea phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:87b35b93-4a3b-444f-bdaa-f547d4c264a0 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c293a12d-82ee-498e-a8aa-561bbfe1179b phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:72d2c176-afe6-4ee9-8b6f-23d74408225c phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d83c71eb-8c1b-489b-b0a6-7f62e5e26ab2 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:16b1c7af-7a61-4cbf-bce4-e6a8805c53b4 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:327478a5-8e75-42be-83ea-00b740ac5077 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:9194d49b-5a6d-4545-841a-13d83d3e1439 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:5ec05674-a56a-4a7b-85c2-9b8cdcd9305c phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:49d83f0b-055b-4160-aae8-813f7ae3c171 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:4d044328-33bf-443b-91d3-5da3b6ab002a phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:701aa352-6621-4600-beb0-b68ab8412719 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:9670a183-7436-44a6-aeeb-d769919d12ea phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:957c8712-ba95-47e1-b212-1bee5c876d01 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:7f4c71d1-866f-4748-a2ae-7e1db12c417b phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:d0bb8fec-1ee8-49ba-8a49-5c200783ba16 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:4c5a3e03-9070-43b9-8dc2-7a7296274af1 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:de96d6f3-718a-43a9-b01a-2f34295c88ec phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:719e527d-ea23-4640-a0d1-18fe8afe0253 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:d16b09e7-7649-4cb4-892a-baea4c30541d phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:49f155aa-ee6d-482e-bbf2-b76d6a435e51 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:17cfd80c-f01f-4f64-a8a1-a5c65935a993 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36333968 uuid:1ae4ad4d-46fd-4438-b454-bb9a6370b584 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:415abd29-4946-49b7-91dd-607a69fcd3f4 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:efa30304-21b7-4c6f-b591-725cebb79db6 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:277bac98-616e-4c71-8a0f-63405374252b phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:73c8f756-7f31-4681-ab3b-2b02b9e90ca4 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:909988a7-ea41-4a99-b243-4e54b6faee4b phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:69db1673-9d2e-47c9-8327-e6d79b93d530 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:87918717-b441-40e1-8f62-c1149c63c205 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:ffa96ccb-296d-4adc-99d9-40b678126b86 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:ed736428-8b07-4d66-9572-91378640daab phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36333968 uuid:b2bb09cc-ad36-4ceb-96f1-5c226def9d66 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36333968 uuid:e803d629-381f-4279-83bc-01ef9d88fdc5 phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36333968 uuid:9d3e724f-59df-441e-833a-9aa442e94505 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:48a00419-e5a7-4d46-be3f-86df399ff527 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:5cb7c59f-1e22-47d9-bdcd-bf742ffd426b phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:16d03b8c-cdd8-465e-be1a-11f62a357386 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:d7833575-217e-4292-b73e-b1b294dbdd00 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:0d4594ce-562e-409e-8df0-cb3ef4bec54a phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:567911f0-5670-44d0-b1b9-08fa95115e3a phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:95011ec0-5d9a-4356-90a5-9a460d880b13 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:278b748d-9fb3-4700-9398-d9b62df3948a phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:67901eee-f4db-402b-b391-79cc3b393016 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:117d29c2-9963-4ec5-8cc3-37f2731ff0ae phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:450aaf6b-fce0-4e8d-982e-432c858262e8 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:6999fc9a-6b08-4fe5-a706-91e702164637 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:59cd2dc7-c855-4eb0-98a7-8d1e59979686 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0012304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:43a66f73-8677-4855-81ae-433c6de0ef2f phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1bec8f70-e2ee-4d7f-89e3-d427c91d675b phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c6f62193-872b-422b-bce2-92e21441e60d phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1afee827-e0fe-48d6-9105-6dfab0d3d834 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:77c943ce-4ebb-427e-8c10-22106b09d5bd phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d11f5938-6d11-4ca7-9590-61f968b0d80f phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:ddfd0ab6-4feb-4639-8f6f-04e1b0a5aad6 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:9734cef2-37fc-4081-921d-40be051a710e phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:286262ea-ade0-41be-870b-ee29f9b01209 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:7d31a4bb-0167-499f-84aa-c8a8897be486 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:49e359b9-70bc-415d-b6b1-4bdd07d545f7 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:b8bd8cd9-cd05-4e80-aa19-60ac939f110f phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:55feb1ef-4c01-4b09-a02f-29acc39caa54 phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:1f1846ec-5a20-4623-a93f-27600dbe303b phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ac8ea996-b9f6-4145-993c-d30fa63511cb phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:7d760574-17d2-40df-98d5-e9e49f50704e phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:d8150989-e272-41d4-b617-38bebfd5e4ea phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:02353f37-6a28-4ff4-85b3-5e84b37573cd phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:571ad49c-5802-410f-b657-58602c9e2330 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:30a56814-fb20-4e01-b274-b7eba0180d2b phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:529aa7b8-1c39-4588-ab89-72d4d5f527d6 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:bb0efcce-9d1a-417d-b981-1bcb93915dc6 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e5e8f04e-8439-4c3e-bbdc-ff38af0d94d2 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c6d1b95a-4c10-4121-9cd7-274328e3b687 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1c02dec0-ef76-46c9-a266-ed4d02209c1f phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:da0f522d-7e41-4bb1-8336-d7bc8b618e3c phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:103c56aa-f2fa-4f5a-a710-27b1d64c99f1 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:8f692c06-c71d-4efa-b78e-29d0ff57aa1b phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:22324067-a2af-4423-9bd3-8a9ca01ec332 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:10410411-6ea5-4fa7-a7ee-c923f7e3faa3 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:94f89bb3-a609-4bdc-8f75-049b4766f0f4 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:7d435ce6-151a-46e3-8447-7596dcb70e7e phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:668a0cbe-2b72-4523-ab61-cda8a8372a70 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:5921a3d4-5278-46a0-bb23-9a6034459b15 phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:58de9f83-24a5-4647-b5f8-35c7daab345e phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37394306 uuid:6b550f03-c405-4390-ab72-7c258120ab37 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37394306 uuid:4e8c8885-2408-43e4-a252-5c20e78d93a0 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37394306 uuid:30534212-2f05-4160-b851-6635abf5dfe6 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37394306 uuid:37ccf203-9a68-4076-a30c-71846bf01fbf phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37394306 uuid:c6477e85-311d-4e3d-ab20-f2f802165ea2 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37394306 uuid:01a454e3-32b5-41ef-8895-6c81a5c877e2 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37394306 uuid:8fae5d94-d0e3-4ddb-931a-7c7b516b8b94 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:37394306 uuid:2145216b-4514-42e3-b518-3dc5c3953829 phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37394306 uuid:e758fb72-e995-49f1-b994-f072d278a972 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:3f115629-f4dd-45a9-846f-7156ae45d2d4 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:1f6d2f3f-70de-4482-9d18-302acfc4617f phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:cc33d805-8dd7-4494-a593-63abb6e35a99 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:968a13c8-38df-4e94-911a-12ba750c2860 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:9eb46c13-8789-4894-9edd-4a9b51abeeeb phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0012304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:e4f1ceec-dba7-4cdd-87f2-a1dad5a3269c phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:6bab6b69-4bfb-4cc9-b8e5-9a2d0c0e1c85 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:9bc06063-6334-40c2-ada7-e3fb15e08e3b phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:19c14795-1bc5-4125-9c86-00b8545469e9 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:6923675d-419a-4797-b5ea-d1c069a314c0 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:26b72589-0c92-46e3-a816-7ec44d6686c2 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:2075891d-2185-4998-b87b-e6e1711bbbaa phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:cf5501e3-4c9b-491a-80eb-5e1ba7682132 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:aa8f129f-b88e-451b-8504-39f43c68fe38 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:cf117c61-d006-4c7f-960c-863cebdd7672 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:f913593c-c6d3-420f-a3bb-ffe5a6bde898 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:a4fee1f8-1df8-4ca6-8798-18c9cdab5946 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:954b6304-c89d-487e-ae8d-220d74274147 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:7789393e-521b-433f-bd14-11c2b0f6409e phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e7d16f71-84e3-4822-bae0-ab64296ce3f9 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:0db37976-4178-4425-aa80-96e2f37da894 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e7bcd0fd-4d4c-40d6-907c-47bb0089c48a phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:a0f7fd16-ffe1-4a48-b188-d8ad0554c79c phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d8f081be-c73b-47fc-b9ab-9ffc029a8b10 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:64493ffb-3d2c-4e05-8585-a00e71f70cd7 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:6b396b8b-a910-4f52-9e4b-130a940f9629 phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:cac8e786-380d-47f6-9b20-5dd7a31c0d88 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:c7bb8f4f-dd23-4144-9e26-62f0dd3d3d1c phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ca20abb0-a1a0-4805-b632-7d70070bedcb phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:2b12c702-ae99-4dcc-97a1-3dc85d67834e phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:d2351705-6b1b-4460-a523-f4499e9ff48b phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:a59d2c12-c605-451d-8fe5-05a15d514f8b phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:bbc2cb5b-cab4-4627-90db-29c5ed0c59c0 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e768a670-0c77-44fd-9fb9-b6a90400bfb0 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:afdb3ccd-6426-49cd-948a-91ed8fae05d8 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d68ce1e5-458e-4388-adf6-e25086fa1141 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:2340e37f-6354-4fcf-8d75-167d33d52410 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:4e24ebee-c311-48ee-931a-7c3819b8868e phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:fcc5778c-8324-4487-ad4f-55580347bb12 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1bdb1582-ed06-4ebc-984f-d0e790144ce1 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:a7a44640-c254-49f0-92c2-b59c6feae8ef phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0012304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c6b3d71e-2b07-4d64-bc0b-f9fdfffce709 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:338b3e51-c53b-425b-9e0b-2713ecad7810 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d4e2dbd8-915e-469b-8150-88ed6e29556d phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:6b94c047-0512-4361-a0b4-a96ce0c5295a phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1487298b-9e6d-4faf-a0c0-af05f6323e3d phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:f59b7a20-d19d-4322-8e2d-19cdddcce59b phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e4ce9ecb-fcf9-440d-8cd4-de9b36618ae0 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:39c0d716-6721-42fa-912d-6f182640178c phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:436f4dea-84d9-40a6-bd44-2a82c7fa1cf0 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:61d590dc-6563-4b4b-9c1f-77cdaccd0fa1 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d126742f-2af8-4ffd-bdb7-bf3cfe3f8831 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c6472943-3773-4981-90bf-83cd7ae08d2c phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:23cb7c20-5550-40b0-80f7-339e29f31651 phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:8a5d093e-093e-44b1-949a-2a63be5bac6c phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:344a28de-245e-4e9d-a16b-65063815251b phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:71323266-333a-447c-b6a8-fd6cc0a66eeb phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:f4a0b196-cea4-4da5-b0ac-05bf1c81d253 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:89453426-bb47-4ef6-8e84-a7e789ec8514 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ba03bf6f-9669-4e6d-830c-3c6267a4aade phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:93055493-bf49-415a-b997-a803c42d1678 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:6efea663-d778-49b9-91d8-2f2aae3033a5 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:33425aab-a3db-4f7a-9397-dda4002330b3 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ace93ffc-d876-4942-a55e-5f6c3b1b2722 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:78f2670d-8fd6-4f04-bf24-6ae0bc88f386 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:5c494271-eb52-4a59-843d-9f7873b3ad45 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:2e1e859b-efb0-4236-924c-f969b77ba1d5 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:fcb60d2b-9e3d-470d-a379-f1b0c56fcafe phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:4de06803-0b7f-4a52-8110-c30f35125381 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1318c230-4406-4c2f-a6fe-5b255ed727e3 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:8e0fdfb5-ec31-4bcc-9d95-3430b0a2f925 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0012304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c6559d93-9392-4650-8443-5e2f710f3e5a phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000122 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:219ea380-72b8-47c4-b9cb-1f464631c2b5 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:e431bb41-3806-43ec-b194-d147d835e556 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:58a3ba67-ea6a-43de-8696-760de8b9c284 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:6c738106-7ae4-4543-8097-47aec42d32d1 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d4f78763-4134-4200-85b9-fb6917788e77 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:3747e16d-4a7a-4651-9e8b-535cafcf2dff phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:f50b2027-23ed-46aa-a7f4-951cb4946aac phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:54d66197-2412-451f-aa29-b007f3a208ba phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1e2d5ea1-8de5-4584-b4a7-8920d2266f36 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:adc7e0b3-3ca1-4554-971d-6b30b1b6bd83 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:2d245186-b281-47de-937e-19d6658e8ce5 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:103568c8-ca1c-460e-9836-a8f509379102 phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:86072318-3c5d-4206-a743-e1eedf0cbf5c phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:59ef52d9-ec84-4a58-ba48-b9be41d56684 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ca7f7a19-7716-49fb-b5e7-1c6e0cb401d1 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1b33e59d-ce1e-4cdc-afa0-c8b7025521b2 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:5edb1cd5-e381-4e7a-a222-7a3f9fb4cbeb phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:50456020-07bb-4e07-805b-ce4c3361daca phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:a0022b04-9632-4758-b612-d366ca27f44c phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:5ba1efd2-626a-4af8-ba12-4c110d1a009f phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:4d20e0c4-11b0-4636-bed2-66b8697491bc phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:54a46b41-5447-4e3f-a80e-49dfbd54851d phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0012304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c7841ebe-4618-4fe1-b64b-e669c628531d phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002575 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c03ee093-abb9-49c8-95a8-1fbc1cbebf9a phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:fb53d68e-8aef-441e-8a50-cbb1f682b351 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:82039f95-68ff-434f-8e29-b45a6050b869 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:09a2c9c2-21a0-4070-9644-8aeeea158c7a phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:5abdc2b7-8679-4800-ab37-f00288befb43 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:53424de1-02e6-49bb-b15f-48fa316b1a2d phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:2951ff8a-232e-4800-aa99-7fa243998144 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:c2b82879-a146-46e8-b8bb-66cb2f64c4e1 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d4252bda-5f59-4fd8-9615-622909cdeb89 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:029f7ad0-d1d0-4674-87c3-3fe591acea42 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:8ab5ecc6-62ef-463e-9f4c-ef29ed6c883a phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:22756b2e-2370-45f4-9975-e164f58529a0 phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:372111e0-4290-494a-a81e-23e071d54932 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:bf519113-819c-428c-9ad0-6d9775b1d0f1 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:0b1480bb-8c81-47be-a02c-8b3751e4997e phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:ce04d7ae-a270-4d14-82f9-18895ef1dc3e phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:f2cb9952-def1-44b9-b506-cf0d7619dec7 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:182ef668-2813-47bd-897a-a5f58cdc2689 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:ec4007ef-e2a8-4e62-be86-b0359ddc4451 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:7e8553e7-b138-4b01-b31d-2de213705ecc phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:ebd75761-8b43-41b9-b59b-0608244adb1e phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d04901cc-ba3b-4ea3-b09e-7dd1e79f06ee phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:525f7bed-c59f-466d-8c1a-e6e73de3108c phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:12684d13-bb87-4e4f-9221-885b62619d63 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:385fba6a-ba47-494d-9ab4-f4720c9972ab phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:6380970c-4b5e-4adb-9f45-2c4b437bda67 phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:3fb94c3c-eeb9-44bd-90ad-73e09efc054f phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:d725809a-eeb2-464d-b875-54ae5802dd2a phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:7cbe3c5b-e4de-47d3-a4a6-0d9d14d80539 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:9faa2965-7387-47d9-a370-a39168b9e9e6 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:01f3d4a9-fdba-426d-9b6c-467661cd7b36 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:83aebfeb-01f9-4700-a86f-3450f924b635 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:7d58fd88-9df8-4cb0-9135-c0bd8e6f92a3 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:5fb99bdb-4e1c-4906-b7b2-c838fc556d68 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:3c95dea9-f09c-4694-9ab3-c8ffba506930 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:78a2cf9f-3bba-45f0-bbc5-4849f689dd67 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32730804 uuid:e84d19d9-13ee-4a08-a910-6d9b5a0a8ca2 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:42d9f520-da59-492e-8bf0-7033c8498b7b phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:d139bb3e-b0b0-442e-94d2-05074848f668 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:21a125aa-ff33-42fd-bd19-d8532bb6ab86 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:3c0519f4-6836-451b-baa8-1310600ca3b1 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:1f2a9408-2169-48c0-bbe0-87ed90232f70 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:35731479-a301-4740-b3b2-6a9e37ff06f4 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:10e3d92a-8efe-4696-b29d-6669b5b45c10 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:f8a05f03-b15d-4328-bc0f-82657eef17f7 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:0a1d3f56-6950-491c-a90c-d5fd4e1ba278 phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_phenotype HP:0002435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32730804 uuid:cefc5b03-26f7-431a-869a-f4b7e4468b1c phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_disease OMIM:620511 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:f13bf597-e678-410d-a2f3-9fca76c1b2de phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:has_gene HGNC:19304 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32730804 uuid:85bb8974-9447-4e36-a9f0-cc68ca99e67f phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:ff95e398-d8dd-4227-9280-7d26a0597a0a phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:893cde1f-0d70-4ce7-b241-cc4bc6bb3e12 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:f0dd7a74-cb06-477e-b1c9-8a20b73bfbfb phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:6000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:6f0107e2-9347-4d69-b8a9-13be4cff4ba3 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:bae284b4-7c4a-40f6-bada-c4257bd004dc phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:e05c1968-ed8e-4e46-9067-bd3df19f7593 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:cb693c01-7e89-445e-b7cc-744711b63005 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:6c87bcb5-06b4-4065-876b-7d5ccfa651d9 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:009dd4c1-f325-42fe-8bc0-8dc7a77c20f8 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:04722eb5-ccc1-49fe-b94a-791be5c8dd3c phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:fe3338ae-502b-4ba3-98e2-524fa387bdab phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:830b155a-5e39-4519-8df2-23351db69627 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:754a460f-898b-4a04-a053-c3436488a073 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:133e77c3-ef40-4619-8a57-299baeb0ba1f phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:bec04df5-b459-4b2a-84ac-6b5dcca2abee phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:8cf89512-304f-4f28-a294-de15e3f83bd9 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:98ac1acf-cfdd-47d9-953c-371922c9de53 phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:f53f99b5-df24-42ff-abef-b0751fd6449e phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_disease OMIM:600920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:18a8e3de-5d74-4444-8f5d-dc0662daf61a phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:has_gene HGNC:19869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:3800182d-ae53-4e0f-a9ef-0611fdc86980 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:443336dc-6a4f-4946-abe4-dc390c298937 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0005033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:7bb131f5-0d1c-44d0-aefa-50657fdddb4b phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:a57d274d-167b-4ae1-9617-76567c1ecae0 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:6000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:e54740f7-371d-4689-8a96-48377498dd09 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:bdadea2e-aa36-4ff5-9ac2-f7090608a3cd phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:af323ded-8447-45c7-a67e-de73498a47ce phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:388b277e-10a5-4929-b9d0-64b343afc98a phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:b7bafbad-5618-4a15-8d9a-22685ce749d3 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:4a3a9d86-bbd8-4bea-a119-ac170be047c1 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:9f5a364a-6242-407a-a0d6-5bc89fb55770 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:40545998-0730-4131-a7b3-9cbba0a618ac phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:614ad970-e904-40ef-81c6-0dd8aff1583a phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:93392b3a-456c-4f3c-b519-d7b29698b9dd phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:90cd6dec-8695-42be-a301-012cc1102296 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:daca2898-b90d-4759-96d4-8407420d4913 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:598640b0-d4b2-40a7-906b-d2c1a1e90cc1 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:2056182c-51f3-4d67-b536-692b75fcb0ed phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29378527 uuid:1e2f5bc8-4c9b-4415-961d-ea64bdc102dc phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29378527 uuid:bdca0127-f9fd-40d2-8f86-a45ad3ede176 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_disease OMIM:600920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29378527 uuid:cbb122ef-4187-47a1-8099-45a80cfbd3c7 phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:has_gene HGNC:19869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29378527 uuid:440071f4-c218-4aaf-b8a5-e2b187f5cdd2 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:13a12a61-d17d-4030-9f84-483b328b6437 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:aec5121e-9467-43c8-b2fb-f791156cc6b7 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:8fac5d32-973a-456f-b0f6-9c5a071063b4 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:e81d478b-4ae1-4bde-8e81-9908c541ed19 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:25bb3c66-3e4f-41c0-8d9f-b563b3049951 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:82544758-40c8-4197-b74c-418797f92db5 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:ac705298-75a7-413b-a14a-fbde9cb85c0e phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:96a84c56-f03d-4bb5-8452-85d53bab814c phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:f89b949e-9cc2-475b-94a5-51ee538a8ceb phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:ed2cf501-f450-470f-9c0a-b46bf032a8c4 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:9183c2f8-d2aa-488d-8223-f85892bdc714 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:02cefd54-25fc-413d-bf88-c83d6d2e835a phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:afc93eea-c74e-4082-8b54-f9b3036d52b5 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:a1abdb07-2001-4ef4-8d67-0f56b05a7066 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:faba7bec-1c1d-4fa1-9d13-984149067b3a phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:cbe4384b-bde9-4ef8-8b44-3b19d5997329 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:22d7250f-0959-4e98-a543-cb4176713a62 phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_disease OMIM:600920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:62d88d62-09cc-4f47-9878-239979f6a93e phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:has_gene HGNC:19869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:c7feb319-fce0-4441-8576-1ad249cc05e6 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:ce6038b6-e999-47ea-a5b8-166cbabb5dd7 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:d60714d2-e5ff-413b-88e5-1ca7ded336ad phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:fc5e527e-bea1-4809-992a-b368365ee866 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:6000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:6669ff7f-6dcc-45af-a049-e53eb32fdd22 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:3bf934c8-0c14-4df8-8a59-526186c10435 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:a69d8eb0-60ed-4ee5-b5bb-cdf34bf752b7 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:d0b42275-5b5f-4ef6-90c5-e330865b6a30 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:06bc4c48-b583-45f4-b32c-24d0bdfe40aa phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:c6b36b49-291b-420e-9542-2d98362f3789 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:74b6615e-7b1b-4f1f-b15a-93f467aecabb phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:a7ce33ee-9a02-4cf1-be28-2bac725af2c4 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:b369a787-a6a1-45cf-a9b6-45b7a15947ce phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:e5a3c1a1-a5fb-41f6-aed5-ed8571a5bc5d phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:fec7d23f-e2b6-44bd-a57a-3a80ba916eb9 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:4c4a5f50-a724-4173-9327-7eaffa19dc65 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:dc19603b-86f2-4c9a-a8c5-23f2142715e9 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:624afc36-cc5c-46fb-9ee8-ada3755577f7 phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:eb56a731-eed3-4c79-b551-de48b6e7955c phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_disease OMIM:600920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:a7d7d8c9-cf0a-43cc-baf9-12b9a12b9a7f phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:has_gene HGNC:19869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:272ab333-d0e6-4aaa-a674-1805c5ad58a0 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:786ae330-62a0-45e2-a04c-c5f5140acb7b phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0005033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:b660a20c-e8cf-4a29-847c-fc9ff4b96a19 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:711429ad-2ab0-4734-aedf-6cd1f05fa376 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:6000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:817be990-3108-4903-85d6-65ebbc956f0d phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:5e51e3f6-feec-4fd5-b6fa-951ddf87ab55 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:319ff316-eab1-4818-8d4d-9dca05964270 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:ab6b56c9-b318-4525-a314-a103eb014f7c phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:bdbeb1fd-90a9-4b0b-966e-3c8fc470fc09 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:dda0c018-f680-4763-a0ca-46882dd1771f phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:7d6b66cb-1dcd-452b-aacc-fa5d770d4012 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:e7fa64b6-9af4-4096-bb71-d024cac9c9b5 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:cda3c167-3fb5-47c4-a64a-ed93ee9c58cb phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:dc27b5d5-227f-45ac-93a7-0c6afa8b12fe phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:91a2de96-f965-4d53-9875-332ab84247a3 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0005001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:f3a60b40-d21f-41e6-b0f9-f9dc50e55e71 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:aece2ba7-32f0-41ed-809e-5f916514549b phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29378527 uuid:86142dd2-3e8c-4b1f-a8fd-10629ad6770c phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29378527 uuid:82c09976-39fc-42d9-af97-7b467d236453 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29378527 uuid:6671feb7-7af8-44b8-b482-fbbf1b2237b0 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_disease OMIM:600920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29378527 uuid:dfb5083b-e993-4ed7-a11d-35023d329c41 phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:has_gene HGNC:19869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29378527 uuid:8e8e7e89-a9d7-46c4-bcff-b4341490a6e1 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:71486dd8-6301-4299-b715-e258b050712e phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:6232f230-0af0-4369-88ee-adf187cf7998 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:bfd922ef-d679-44b1-8d5f-6fdf3940a1ee phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:6000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:1f5bdfb8-762e-43b6-b392-98f8e21507b9 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0001847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:5968b2f0-0b75-4f27-bd40-2c73a37c2ca2 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:a47b2962-7e40-4ac8-b93e-6efdc0e5b158 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:7c6765c5-02cc-4e65-8a28-81ac0abfbd73 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:6c27f784-6660-4e0c-9a3f-92dc696a7fef phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:a5dbb092-3b14-4c23-80a5-8519351e6437 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:d6be880a-5a39-4b81-8234-0c4d5fb3d993 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:b1066336-684c-40d7-8b1a-70541fcc901e phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0030799 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:95404be2-0f43-437c-9f58-8e32ecf8316c phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:ed27c9c4-3a27-44c7-8bed-7cd801e9a33d phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20887961 uuid:609d028e-f657-4d35-ba12-6940e1a8b264 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:4f08ae06-542c-4f2b-9969-16bb0e8ca7d1 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:74a1679b-442f-4087-a73a-71e078b63257 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:17e7c332-99b6-482e-a282-1d0a6e27bf49 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_phenotype HP:0000773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20887961 uuid:541f2b37-4f9d-4e4c-b62f-7338441732d3 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_disease OMIM:600920 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:7252bbb0-a4e1-482b-99a9-493de5233a47 phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:has_gene HGNC:19869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20887961 uuid:6b09f926-bcff-403b-bebc-26e9cee3677a phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2fe0770a-1d50-4c03-b2b6-3f331ea49d50 phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1512df4e-ef31-43d0-8032-b1e5d5e1cb3d phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ee65bd55-0b49-4a5e-99e5-2a4ef472c86b phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2e3f3442-25f3-4a76-ae22-2c37fcfbe2ac phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9fe1834a-306b-4fb9-9376-a36d65153590 phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3f3f7f3a-3b1d-4ea5-be2e-6b39acbf3a25 phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7e5e1c0f-639e-4a1f-a80d-814f6444794c phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:73557ab4-1768-42b8-ba10-02c89109840f phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eeec9164-f86f-43a1-b105-8d87531972fc phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0a52c4c9-fa87-4fc7-851a-0d7a48e66d68 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b2942e84-53a0-4c5d-83d5-fe4d424822d6 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9ec2bcc-87bb-41a2-9b7c-41821ad64e92 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0f3c76ca-e2c0-4a0e-b761-c0c456f86912 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:991856a2-2708-4f97-9e12-84d3298af4f9 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3ce699e-26f9-42d0-b340-6d9f9d60e192 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c2d9e55e-11e7-4a12-9567-8eea6bace091 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:02d951a9-effb-484f-a743-85478ccd726d phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7675bf9d-1e74-42d2-9f54-d5a72cf7091d phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:39cd702c-dc7f-44f7-b672-668b137f46b1 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:960df05f-f8e1-4758-a61a-fc90ae6afd9f phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71d6d749-759c-4656-9a2f-598ae8c33587 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:77382ee2-573d-4883-88d2-ac1c62b2691c phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0cf5469-5546-42ab-8366-100615b88c79 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e04db3d2-a8ce-4afb-944d-67db70acc676 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9551fd81-6aef-4e58-bc6b-ffca6acb1513 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21a62eec-f0bb-4ade-9092-d0aa10f5a2f4 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34cf8ce9-43fb-4ce6-a700-07d71816f565 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9b6f2a60-7ed9-4848-9952-e4e50f31955b phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b7259459-9b96-432a-ae24-9b71a8005f7e phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d88877b3-ca45-4d6a-9a5d-2b454ae459de phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3c1215c8-c3cb-4c30-a908-2f70dc56232b phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:60805fa9-9216-4b50-9f8c-8967244849de phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0f6f142e-e02b-4cfb-b11d-8d00605212fb phenopacket.store:SCN2A.PMID_33731876_fam110 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c586e7ac-f287-47f1-a6b2-a43e5905521c phenopacket.store:SCN2A.PMID_33731876_fam110 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cfb8438d-5bca-4ac7-b31b-f27484224be5 phenopacket.store:SCN2A.PMID_33731876_fam110 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c4d6f2fe-455c-4bc2-bca2-de512b986f20 phenopacket.store:SCN2A.PMID_33731876_fam110 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:11c40202-c024-4853-8c1e-0540633b8b24 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9e6a5b5-77a1-4421-9652-4b22538a8238 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a36a3a62-8919-473b-8099-fa6e3161e106 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:23ce3e85-5cca-4997-877f-6de0b4ddd7b8 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:596eb4ee-831a-4716-9154-802df4b97710 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a01fea66-458b-40f0-a684-f330c21ba564 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b5e5f5d-4b2e-4c35-bb32-58709024c8e3 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8d0b92b5-206b-4360-bda3-c4f65e6234e5 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9a6d5890-c60d-451d-b6c3-50ff5a7b9aec phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0da3be9f-213b-410c-a3ae-b9db3f5432c1 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc1fe1bd-6bf8-4418-bf7b-1d31f3796c78 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0025101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e7b8995d-a3c2-4362-a594-d0af61902632 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d748525c-2d83-4a2e-8380-52fcef00e2ce phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dcadab72-b256-4db9-8289-7deae1a14282 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9e60d118-5c9d-473f-b3f7-2b5c1a0d92c1 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25bf5d3d-c7a5-4628-b452-8578194a4399 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:42944e94-a8a9-45ec-975c-6b9380336f29 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ed74ac9e-baf7-4bc0-88d1-6fc04ff194eb phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:147be9ca-dc45-49c2-93ea-f59082f9d0f5 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d7316a21-cdbc-4d7e-9120-ffa1705588d6 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c1331d1c-be5a-4cbd-8a0f-5f288c2a7054 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dcfb5dc7-6d0e-48da-933a-23ba71c55a4e phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5404d8cf-49cd-4bbb-96e7-f047a21048ae phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:854e81e1-cd77-4bb4-9805-80621412e3c9 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:539b3e30-697e-45e5-a3ba-fb050621c32a phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:41beef01-eaed-4e36-b51f-1259d4a0a0af phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2d18d9ae-a4a2-40cf-868c-5a321aa14366 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91afce38-25a3-401c-b59f-3b58ac712003 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3506ac6b-34d2-4148-9e30-4ae846306850 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0011470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f192fb34-6abf-42d9-ab1d-fe2ba4fc6f21 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:07542192-cf0a-4402-ae76-bc936ed5524f phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cabe6ed3-8f68-4212-87c6-1074639aa9b0 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc0c7a22-0036-4ef7-a36e-4df32ecc919d phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:353ada1e-d697-4e1b-8483-d2293fe8aabd phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2a9fc788-803e-4ff3-bd3e-e4161f346875 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bd5fc315-4590-421d-adbc-848bed6df66c phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:482df10e-e5a1-4d1b-a1c7-bf59b3c824ca phenopacket.store:SCN2A.PMID_33731876_fam319 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4e2ba363-ffc6-4567-ab9a-13c7908c6ee2 phenopacket.store:SCN2A.PMID_33731876_fam319 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a5dabded-7188-4023-8a37-166034cb7052 phenopacket.store:SCN2A.PMID_33731876_fam319 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50c275f7-4f17-4592-b5e3-aa1c2bbc785a phenopacket.store:SCN2A.PMID_33731876_fam319 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:224da389-cbc6-4c99-a7de-40ee240356e9 phenopacket.store:SCN2A.PMID_33731876_fam319 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:262ef68b-2aaa-4b36-9a0b-d012fe543eb8 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d37f1c65-67fc-433f-a6c0-fc50fed091c3 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:35a8630c-9bcb-4bc6-889d-acbbee6d54e4 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:083b8fa1-c428-4ba1-b8af-040d651efa96 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0052a97b-41f1-402c-8dd8-6b9c60e98c0a phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a45fc4f-4511-420a-bda3-cd04d64ac26f phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d487e81a-df43-4d8a-a203-f2007bd8d00a phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3d3dacb9-1521-4ec3-b8a1-f02f3631d7e3 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:083abb70-4422-445a-9074-b60f278d64c6 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ba810ae9-b3b1-45ce-be52-4647e68fd239 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6f083e58-aa45-4b91-9f55-bf77257cb44c phenopacket.store:SCN2A.PMID_33731876_fam199 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26b55b3a-d1db-447c-b438-02e20cc9c31a phenopacket.store:SCN2A.PMID_33731876_fam199 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7ad8ff24-7bc6-4b28-a0b9-e238e89b9d9c phenopacket.store:SCN2A.PMID_33731876_fam199 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8018a5a5-1064-473a-bfc7-5b8c56939925 phenopacket.store:SCN2A.PMID_33731876_fam199 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:81dc0f7d-f8d1-449c-9049-31bd499addcc phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3fdf2186-6cc0-4ca6-8e39-acb1453e3311 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44972c7e-d969-436c-a182-7f26ad05680b phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4f15f914-d517-454b-aeff-8e5307fca5ed phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fe99290e-105f-4bf4-bd6e-a3051865c009 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:11af1126-ede8-4f1d-b575-c50b550b49f2 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d97bf66c-00fd-41e7-b6d8-38c11924a8e0 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:72ec22a2-69a1-4834-a3ab-9cb39d574f96 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e6913741-9f2c-468e-9ff8-f6be7b3112dd phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f2b741a0-13a5-4b5b-810d-57a943b386a2 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0c4168ac-1852-4cb2-aa80-c1294dc1d21f phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1febe5f5-2464-401f-ac49-89bf33f267aa phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d08230e1-b4e2-437c-aa47-8df76ae56293 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9b598e9e-a5f2-4241-b2c1-cbe1baf64d9f phenopacket.store:SCN2A.PMID_33731876_fam312 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d1e47db4-f842-4c75-a629-bb12659d03a8 phenopacket.store:SCN2A.PMID_33731876_fam312 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4ffa743e-b0c3-456f-9a44-4e1014f647ed phenopacket.store:SCN2A.PMID_33731876_fam312 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:84cf07b5-574c-41dd-b414-b55629a283b8 phenopacket.store:SCN2A.PMID_33731876_fam312 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:93f28b81-9b18-4fb6-a0e0-0a49b085c3eb phenopacket.store:SCN2A.PMID_33731876_fam312 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0b75b35e-fd32-40d6-8e13-5eef65f041bf phenopacket.store:SCN2A.PMID_33731876_fam303 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1b78907e-77d0-41d9-98db-97e109d64894 phenopacket.store:SCN2A.PMID_33731876_fam303 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2019ba4d-8cbb-4be1-9f7a-c71efc131e47 phenopacket.store:SCN2A.PMID_33731876_fam303 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5e55a132-0a87-42f8-9df1-7731f5354066 phenopacket.store:SCN2A.PMID_33731876_fam303 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:af140716-e732-4400-8627-bc621428a019 phenopacket.store:SCN2A.PMID_33731876_fam303 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ca4454c5-dff8-4e52-ad16-c9776cff5afc phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0b7e53a5-6ce9-440f-9551-c45aa70ff9f3 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:20bfb7df-8af3-4acf-a97f-3335994305f2 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3f7dfe2d-93d3-45d1-b8a4-8775a520f75c phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5690fa98-b190-44bc-9808-7b6c1c589bfb phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3270205b-66c9-4364-97f1-dbc290423282 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:139004e0-7d17-4478-9506-b75b54638ca5 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0012017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d15ba0a-5666-4bc5-b423-913122e70145 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64f16b0a-d28a-4e55-8778-b6cec2c80144 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:029078f8-3691-4d0a-bbbb-41576fae1c0f phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:991a787e-19a1-47cf-851c-88fb6f3523bc phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c2a0d205-11b8-47cb-8989-aee073cf7bcc phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:48d7c54f-4a17-4814-b0f1-d07ce2624b75 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3bb1ae83-e034-46fe-a623-3e079b9f6cb1 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f7fce3e7-4940-450c-888a-582a7d9c2f71 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:21b21361-7c22-4733-9428-9af3fc8cfb5f phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:71460650-ef23-4c61-9c8a-91639cc8c4ff phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dab44043-5e70-441f-a5ea-fe451c5b5359 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a7b4e72-7829-450a-81fd-8d27f4dfb382 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:95a2f6b6-3928-4e16-98e3-6dd14125dede phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5367710f-484b-4165-b625-b177a2fe27e4 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:77c2a17b-d1dc-418e-8ad2-f3b5b97d6c5d phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c1486624-6f6d-4225-8b3f-7fa5a7b9d095 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e92ea4f0-065f-4024-90ef-b4b33ffd01dd phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7dfc516b-fbfd-4d5b-bfdb-4951aa93e931 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3992747f-050f-4497-b999-1b7ffc0c0de9 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2a528d9-6c3d-43f4-8661-ee3747ff4747 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f3063086-1477-4410-8d6c-0a0f6783305c phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e705c516-ff85-412d-a380-689171472a20 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5a29c73b-f220-4eda-996e-20d832d999ea phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aced58f4-32ce-4ba3-ad3e-ad0f9d046064 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5be8e93-0ccb-4117-9430-d7a565d93b34 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fee40387-5667-4998-a350-47bc3a3c56d9 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:66923d81-d97f-40b0-b77d-58ded4949460 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:791d3df1-0b49-4fba-94b5-014e7356484e phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64c60307-b78a-4912-b53b-bd26769acb7a phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4ff0c223-e7a9-42b3-8bcc-cd3da692f165 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aeb54819-c49d-4429-852e-c2b3aa0a50fa phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7822ba5b-424f-46c0-bb89-89d84044d8db phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6bf1008d-b40b-494b-aebf-42e60de086a6 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b5ec4411-9d53-467a-a6e9-3eed3fa58f7b phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d5bdddce-5974-421b-811f-ca509b740155 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f40e1710-c19f-4ef8-a72d-02c7c62716c7 phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c800e07a-7af6-41af-a93b-f7b3508ed0ce phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44cbce8f-38ea-4b2e-92c0-cd79af146a1b phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8405dc6e-9762-45eb-8864-4a87c400e423 phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a7f12d9-b3de-494c-98cb-b9982397f61c phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3762c52b-431b-4cb0-af70-6f57d6606e7b phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6a9906bb-3117-48e0-85d4-b637d4bce151 phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fa8a4e97-2ebf-41d2-9c3b-1bece33875e4 phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ba16dfb7-707e-4dee-8d4a-7e287bb6b784 phenopacket.store:SCN2A.PMID_33731876_fam394 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8062fe4-9b8f-4f4f-b6b0-f31bb1ef9fac phenopacket.store:SCN2A.PMID_33731876_fam394 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d1438a9b-cb42-4498-8dd3-d7f0cc99c0d4 phenopacket.store:SCN2A.PMID_33731876_fam394 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5baeec43-4df8-4120-ac0e-afe4597d8a0f phenopacket.store:SCN2A.PMID_33731876_fam394 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5b2d3091-161c-4038-98dc-062cd28a0444 phenopacket.store:SCN2A.PMID_33731876_fam394 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9f6414c9-1ca9-4f98-a8b6-c4598af63df4 phenopacket.store:SCN2A.PMID_33731876_fam342 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:18df4ae4-aca3-4459-af7f-941ac0d443c5 phenopacket.store:SCN2A.PMID_33731876_fam342 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dbeca3f7-e56d-4c5a-bd0b-2e1c919ab81d phenopacket.store:SCN2A.PMID_33731876_fam342 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8d41c20-1910-4704-b17a-237168dfd370 phenopacket.store:SCN2A.PMID_33731876_fam342 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cd567261-258a-490d-ae02-febdc03542ec phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:68f77328-ae08-4591-8de3-41dea0475aa5 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0025278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f44a9343-734a-48c4-9aaf-9e67780989cb phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d46bd877-ef1c-4ca2-b290-73e7bb81d0cf phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21824e87-b8ef-4d1d-a44c-fccaee64d658 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a784de0c-a3de-4fc3-9dde-14a92539bc29 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0f0986b4-dd31-4182-bc4e-81f7258eac10 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0002828 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c1e26478-501f-4062-8f34-393fabf6ebb4 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5d3228ad-c730-4c76-8e64-035a0d77379b phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0040288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7cd49570-2c8b-4cd8-80f8-4b3d38294462 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2f52466d-7685-4692-954a-f3340d094fc4 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:024c4b37-5bb3-4882-b076-2abc6344cf51 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a833cb7d-0bed-4855-8f61-e776657fa078 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e235619d-9647-48f4-a1c6-bbddd8467b9e phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:060fc86c-9974-4ca1-9e65-c2d36c70a930 phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e2413907-4618-4a64-a041-06bbe02f2b7a phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a898dc9-aa1c-43c7-ba9e-d25d9546859e phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4221e9ac-d583-4831-8e67-aef57133dc79 phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0132f5cd-88e8-46a9-9d9e-5f86b553579a phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8f652055-147c-4205-8641-2251b36f53ae phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:35268be1-e8dd-46e8-94a3-db78aabbb331 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b99be847-825f-41d7-8522-81b7671ab434 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6036e3e3-8135-40f5-b922-473693fba860 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a00b6ff-6d7f-4b5d-acf6-812f97274b22 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e9b063f7-2c07-4a50-a7a7-72584ebf836e phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa92b245-de47-403b-ba7a-a3af487f906d phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ece5ad5e-a3e0-402b-92fd-82be3517d00a phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0832acbb-856f-4b92-bbac-55cfed9883fd phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c18ddb39-efc0-487d-a158-ef1aa1d7a190 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5aac12f5-1cdd-4f7b-8846-8c01752057f5 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c809db6e-b7d9-4fa0-9f4a-5da351a7c7db phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ea9c30a6-92ae-46a0-9164-c79c46308aea phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a2e0aedb-6eda-4177-b6ee-713c4d395cfc phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1f27b818-a1ad-4c8a-97c9-8d1455dfd025 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a596eb50-5688-429c-a7a0-19cc2fe36118 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e7981cb5-645e-42db-968e-f3db976cccf1 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:61ee737e-fb7d-48c8-a8ba-11188aa62f86 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cc5f6da3-d893-4303-bdd1-1e3dad4135e3 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b989227a-6f96-475a-8593-e9ecf2e03d7f phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0005912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2c9cefc-1d4b-4ad4-9ec5-fe8bfad7d9ec phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d08b08f9-7a13-48a3-aa81-2c6f185ef14d phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2a021888-fef6-4162-9b62-20ee2c4b4825 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:112aed4f-9d11-4637-9adb-fa16e5273434 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0babd49-0d55-47a5-954b-990ab8c99840 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26471150-a822-49c7-94f1-d10beadcf558 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c9117131-5727-4abf-8fdd-b9ccf4524d82 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0011099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b3680289-687b-4571-a8ac-2883299b8edb phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:db1552ba-e64b-470b-af00-c89a96b4e156 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8ce10bb3-6152-4bbb-a214-23dde43aad21 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b03e3672-6921-4223-a688-c5f36e79fed3 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:22a4b1d7-f412-4d5a-9011-2011666a2417 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:89e9b72d-0f2c-4338-a561-1a9d628286f8 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0bc83e89-0189-4529-af77-2d718d4484a6 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:54b252de-0aa5-4e19-b1f7-af27a0845389 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b22ccee5-ec95-4787-889e-478716b9528b phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0012748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d5d70b03-c508-4841-ac07-0fecbf17d015 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0012692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:907264e1-dcef-4b7f-b221-a9dd78751d03 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ed71c55d-028e-4a82-8b3c-d574a6d3d099 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:759532a4-f091-4578-8016-98e78f29ce38 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ae600a94-7bb4-47d9-acf2-8a44cf0a3828 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3b474f9f-998e-4960-8581-d993501f7b74 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:476217ef-1ee5-4959-b1a8-35f88a514f7b phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b1451aa0-5639-471d-b70c-8f73706403a4 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8d4cadd3-152e-4516-ba0e-e29e940d2db1 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62f275ba-25da-498e-842b-dbbb0513f58c phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0ae8d50e-7fd4-4eb0-a6b0-354d83c90ac7 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f7e708ac-85f6-43d2-8866-00cfd5bf1801 phenopacket.store:SCN2A.PMID_33731876_fam225 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32aff394-2fdc-402a-983b-0d3b196b829c phenopacket.store:SCN2A.PMID_33731876_fam225 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bca80ed1-d702-4a8f-9dea-0d2aa6910e47 phenopacket.store:SCN2A.PMID_33731876_fam225 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b8707abb-04f7-4c95-a7fd-9f66821d64fc phenopacket.store:SCN2A.PMID_33731876_fam225 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a7edce2a-82c9-49ec-8076-c12a701362dc phenopacket.store:SCN2A.PMID_33731876_fam225 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fb88b8bb-81e6-4af4-848b-ee4cd770b09b phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4efa33d7-dd90-4a3c-8438-4d9014b65109 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fc0753c-2bc4-4fb7-baeb-4277fa038cd0 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40ead55f-55ee-485e-9dc0-970607dbd5e5 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0010863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c6280bd7-6885-4109-9cd6-ee30385a4406 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e455a207-e228-4ca4-bba2-9776dd6d5f24 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b4eb6073-aea0-4827-814f-b339df369c3d phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c982df8c-eab9-427c-8ed9-a7b4d1d32ea0 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:be9ccf16-7724-4c0b-8291-59381c890a56 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:051a9522-9c6b-4131-8092-7cc0c9e40a6d phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ffa4145-3a3a-49d8-a916-c91ab7c6dc4f phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1e15a054-955b-42a9-b35c-af4d16aada26 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:040ece71-f199-48d8-a568-95fc16e5f0d7 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8045e5ae-8a76-4b7d-95bf-efd5c045fc70 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a5256b8d-78af-4812-85c0-c16d778590b1 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0031518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1443fb6e-8568-46db-858c-1b1eb9518f64 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0011204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c480411-507c-45f2-a1ae-b96822d37e91 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0012014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6fcd0cec-b628-4053-a771-f95ee87a13b2 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:13820379-b15d-4e7b-8fec-e76345cdf943 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bb536a46-4da6-4482-bff5-81c754b4b85f phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:222d99f4-96ec-4f52-a006-339e59f6ff3e phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:10e82ee2-db7f-4211-bc58-8d98cf58b3b1 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ecc95435-1180-4a36-8581-7798abc2b1f2 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32c5de05-9a81-4816-baa7-78b8a1b89b81 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:078d43f5-af79-40c9-8440-6f165d18f4e0 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0007105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d7b3ab5-96d3-4f35-aa4c-3ab283514265 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:01b4d8a7-a9f0-4497-af24-f0258a1f6e95 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b2a6b6fd-8d03-473f-b60b-7e0d98c6f217 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c26ab46e-b665-4654-a19d-1f44c443955f phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b526531a-40a1-4f64-99a4-1ce82074e658 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_phenotype HP:0000706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e1a0bf71-39e3-4ea7-a3e3-2dd1ca01ba3a phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bc2fcc10-dffe-4a28-b9c7-961567088fcf phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:422327e4-311b-4737-97ec-7e7037c2ad04 phenopacket.store:SCN2A.PMID_33731876_fam386 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1b3ed1c4-3275-425b-8250-19d132a3b65a phenopacket.store:SCN2A.PMID_33731876_fam386 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8194997f-3470-454a-9b40-48d0e21a3fca phenopacket.store:SCN2A.PMID_33731876_fam386 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:12888940-f550-480f-9836-76bbac2ff4d2 phenopacket.store:SCN2A.PMID_33731876_fam386 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2593e330-5937-4140-aeb4-9e2ee9eccd27 phenopacket.store:SCN2A.PMID_33731876_fam386 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:35803139-12b7-47e4-a87c-36b817e9eb84 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f786239b-7f66-48c9-8a6e-06098e438306 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:149f656f-403c-4f06-bde7-fbf9e2b65534 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fddac42b-0c73-4b78-b136-6a1ddd3c40dc phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8c4f74d9-2ef3-4841-a66f-b69d3dd2e012 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:37f22a4f-f7a4-49e6-a6f8-992eded8493b phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:bdd89bd5-4311-4c5e-8525-1ff9d69ea0e8 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0d92bc2d-d6f6-414b-9cf3-43724b643e61 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:75a81aca-5ea4-4b08-8b37-b5912d9282b6 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9fbfea4a-1937-4c73-914e-3aad30b4dc00 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7acad033-6a7b-44f3-beac-34494dc4f7ea phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fe57cd73-b0e3-4930-b5ad-9c65ab175e94 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91d6983c-c318-439b-bd8f-1d85217a8100 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7db0f1b0-9d7b-4536-a58d-0feb2d83b16c phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a6d04660-5e05-413e-8210-ae149c090020 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fde95a9b-b0b0-4f53-9b85-895f1c4dfa76 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a73f89c3-7081-48d8-956a-a0df73b0d876 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:20485c66-491c-4eed-a004-461115c0c466 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6b09513-9336-48b3-9410-a8984df1beff phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f8310565-c5bc-42ba-a3c0-325104b50240 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40fd635f-3f24-49c9-875f-cfe199adfff0 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ce3d54e0-9c79-42bf-a770-239d4b713648 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ae2f43a0-a501-47d0-9812-698248b3a5e2 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:441663a2-7c60-491a-a667-d1f518dcc785 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a2cd7f2-32e6-4c60-955b-b8b678509537 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5dd23265-5b60-45db-b54c-70052f1695c5 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ddb9153-e266-43dd-bce9-375af1e26a32 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4b523e39-eaaa-4da7-aeb2-6ef28b3f312c phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a0889a85-9cb5-410f-bb72-f7b090b1c2dc phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3f5448ae-858a-452c-af91-59a48e64a243 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c1975509-9c51-404a-a334-3388cbb55e7a phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bd2b74f5-5a05-43b3-893c-c9ef431a21b2 phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8391f21b-d3c8-4628-951c-9f8883cd10f4 phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:37da4369-f54a-49d9-9880-87503145ef9b phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8380b064-256c-4eaf-b377-a3bfc8b7b4dd phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1715055a-aff6-4595-b2bd-c7d1ad5fb88b phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f1be47bd-aa65-4a30-b6f3-0700fa4937cc phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:78bbb5f2-c754-4b7b-b309-6a0727d92fa3 phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3799ffff-188b-4fad-9b5c-433870d1c50f phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67193c3c-d865-4aa4-a6c6-e67477704cfe phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1edb8647-9a71-4b98-a6ff-caf140a549be phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:254db695-bccd-4ff2-9f3b-0a147ea62f24 phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:59cec61f-f3a8-4842-8ed3-b11fae4fe0ff phenopacket.store:SCN2A.PMID_33731876_fam198 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c1dad07a-bfe4-4018-aa93-9f55f11ed779 phenopacket.store:SCN2A.PMID_33731876_fam198 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e6abf703-f0ff-4295-a4ae-a169ff877080 phenopacket.store:SCN2A.PMID_33731876_fam198 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5630b70d-134c-4ccc-af17-bfcb6ff17d83 phenopacket.store:SCN2A.PMID_33731876_fam198 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9be78498-b7e8-4120-9a00-132930e71c27 phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:995d1472-feec-4165-a093-24371363d435 phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a4cf277c-a02d-40cd-929c-48dd976fcec9 phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:68475712-2b19-4ba3-8756-6a382b8299c7 phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6b033798-2df8-4ea3-af83-cc30671982ec phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:50b3cf0f-1bb7-4ee6-a25a-fba878720c90 phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:245a1716-7fdc-47d7-9705-6d0651204b89 phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:has_phenotype HP:0002804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0dc14c3a-a1c3-4614-9b5c-4e71667f6cfd phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f8ad047b-5132-430e-97b3-4dbc54c08ac5 phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:has_phenotype HP:0002089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8bb9ff1f-d9b9-4666-8e18-738828b26b74 phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba5e1d68-bfe6-411d-8ab9-1dddcb0d8aaf phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a0caba28-b8e7-4a4a-a63a-b96acacd5e7d phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:027025cd-0115-4541-af1a-0123549bcfd8 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:246dc99a-d7cd-4339-b4d3-27b78dd6ad28 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5d143ff7-9213-4039-bebb-ef95da29a422 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6576d50f-801a-4da0-aa4e-c1f4c940a505 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2acbaf0-b017-457f-9aaf-8fa1a01c38d4 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c19802e6-f90c-44b6-88f7-5264128d8bd3 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f114afa5-beda-4a2d-b99c-abb2e9177220 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5fa5463e-9cd1-4676-94ae-f17a90c7df44 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3cb936aa-311a-4e85-a122-57fd90dedba5 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d8084b70-2252-4472-b5fc-df46cf1838ce phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:99480be2-23b0-4d9d-a26d-577ba077438f phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d256bd20-1f5c-4040-bc57-5f3edc0607d3 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a0789875-7556-4d89-8947-638988286847 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4db220a4-dc2b-4ba2-a2ea-70711d2b17d3 phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:efbc15d8-c819-4cb9-bac8-c2005285a7a2 phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f3933372-03e6-4160-934e-deebbc431047 phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b487623c-357f-4cc1-a58a-e7b43166205f phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:89810da9-92c8-4143-9073-12a7aecb6c52 phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0e337618-1f2d-4365-886f-83fb245c583f phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fdfc900e-3bb1-47db-9e26-9ac5cf706c97 phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:48baf5d3-670b-4cad-abc8-a201ef524ec4 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ab7a3c89-046c-451b-98e8-8026cd7e053f phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:905ac7fd-f763-49dd-a6ba-5865a3c12659 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5cb82d19-5efb-4043-8d71-17517ec9b306 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9b3ad4f-1b5e-49fa-aa07-2aed6e217f59 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:137a4a51-239e-49f4-801e-637aef72ff44 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e4537d97-70d2-46d5-beae-1074328d9b62 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:18425e04-5c2c-4bbd-9fd2-236f0505779f phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a14c92dd-935c-4f47-aa78-06f6e812e4e6 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e016734a-4e00-4371-b877-bafd5db63137 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a77d954-ede7-4561-a3a8-894b8ab3b6ec phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:66fb05b3-e15e-496a-bf7c-a71846cc3422 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5bf8cea3-3ab6-40a6-8884-5763c35a015c phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a2f10a89-5142-4e23-a8e8-cdd0885c8a09 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d0a5ced9-53f2-44e7-a31f-d6e8f9158b2e phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1f7e2ae4-bfd5-4bb0-aa0d-46cb3f8ef6b5 phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ba69366-519b-4c9c-aaa2-0bf8953908e1 phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32c05dd4-28b0-4a6d-9b97-b3759594c765 phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:88bf8e2c-2dba-4c12-8a0d-c4f3af2061be phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:186dfdd9-30ce-46fd-b78d-35bc495b426e phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a0ec87e0-ba70-40cc-ba73-f0a309ab580d phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:db22f1e7-07e6-4f3e-891f-ea819c343e9b phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:33b4a7bd-fd37-4c7c-a4f4-641b36bd4099 phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0025097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:22c93cb2-895c-4065-9aa2-09acef8d8e9f phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bb742400-ac6d-4d58-bddc-841e736ebfa5 phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6b24c9ac-1770-41d1-adbd-c564326355c2 phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:275b0a91-c8d7-4671-aeaf-70f88c3f7773 phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:554378d4-946f-4bfd-bd2a-60c5b6b4787f phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:56b596ba-aacd-4534-8b0d-a90753e7010f phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a07e8fc9-7cf3-42dc-a9f7-fa966ffa4c29 phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:be401e5b-daff-4637-9d67-d1e9d2257e1e phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0bf5a98b-f004-4169-8027-619123ac54cf phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bdf8dbda-1600-4599-b476-5e0bb4f25230 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b14ccdee-587c-45ef-ad26-533c4aa72f13 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:54d509f0-6f32-437f-8e7f-99ab9f5396f7 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:593594a6-56af-4af5-b9c4-d7c4c9e977cd phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c552c7f0-b3d1-4ee7-bf55-dcb7f4a81b18 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5618702e-e765-40c2-95ab-3b38cfdd2cad phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:277c1e11-7c1f-4356-8f27-83ea39a59d3d phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:78d363d9-7d94-41ba-a1a6-30a76a8d19d7 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f5b095b3-8816-4dca-a01c-54e2f23f9638 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:81f0b55d-1be7-4e63-bfef-8de5ebc929d8 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:84486ac6-e479-4107-a68b-139c9640e4bc phenopacket.store:SCN2A.PMID_33731876_fam160 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b4864c85-cc57-41bb-8437-47477a790c98 phenopacket.store:SCN2A.PMID_33731876_fam160 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:49e2bfaf-a916-41b1-b7bc-46267046062e phenopacket.store:SCN2A.PMID_33731876_fam160 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:47de1841-4cbb-48aa-8e97-72507e9fdb44 phenopacket.store:SCN2A.PMID_33731876_fam160 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:84c33725-59d6-47e6-872b-18d5a8d827b1 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a38f644b-a6e6-4f64-a89e-6ffb4cc8f579 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:81528d56-157b-4210-badc-a2154bcc40e4 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:736c626d-9576-40cc-a1fc-990f1388a5ea phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0e074c86-2bd1-4572-85b3-32dfde536831 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:90002a3f-e2ce-4244-ab27-7246b221b640 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f0a65bd-5558-4424-bb78-25093207872d phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cfbf37c4-08f6-41bf-ae1e-b313cffc82fc phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2aa30621-bdbe-4e7e-9cc2-1cd96514f58f phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:479d9cb5-b426-459e-bf4c-0678e6cb2ce9 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9103455f-1b12-4009-9e1f-43aa8968e70d phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af6b248c-0bd7-4512-957f-0b0c3ab1ac89 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ab74544-7337-4619-bab9-a532e403ca90 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ad6d2ca6-346f-47ff-bd4f-16f3a0b089e1 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d1b86d4c-2f97-4091-b05f-16d75b9ebdd8 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5ea06fca-4358-4e26-83dc-3418315af4c3 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4a10d948-0520-4858-b239-270ef0b2e6a5 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c836333-219c-40f8-a1c7-1d04dff25a94 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e54f4eee-d6bc-476a-bfb1-211488a3a947 phenopacket.store:SCN2A.PMID_33731876_fam311 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4e8c69bf-6781-4a5b-960d-e9e8a27315b9 phenopacket.store:SCN2A.PMID_33731876_fam311 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:596e033d-95f0-44ee-9b70-d6d24352215e phenopacket.store:SCN2A.PMID_33731876_fam311 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:61b99d85-25fe-4c28-a457-d5fd541a8e21 phenopacket.store:SCN2A.PMID_33731876_fam311 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e05edf21-488d-42a0-950e-2201ea68fddc phenopacket.store:SCN2A.PMID_33731876_fam311 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b1cfacd1-6219-45f7-b8e6-519c500b0d56 phenopacket.store:SCN2A.PMID_33731876_fam205 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4351cf60-0026-4dc9-90a8-8ab72b682f55 phenopacket.store:SCN2A.PMID_33731876_fam205 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:380346e3-10f8-4114-a2ac-b615b37c0af1 phenopacket.store:SCN2A.PMID_33731876_fam205 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0f719cfb-ce6d-4689-8cb7-3f6a9d53fdb2 phenopacket.store:SCN2A.PMID_33731876_fam205 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6df517c0-5bdd-4bc4-bd70-cc025a42d2d6 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6c87406a-b725-40cf-8c56-0d314a71a256 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d71952d-3e5f-489e-a06d-5b6a44201cb5 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9c074e95-4097-4861-ac2a-6e1ad36269cd phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ca839cdb-a7f6-4d02-b222-ccf8641bdf94 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4aa6d029-efc7-42b7-99b0-6efb6f8efb26 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0d78f5ff-6c68-40a5-bf3a-d308e75019cf phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:31e1dfb0-86db-47da-88e8-30ab2fdc4cfc phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:79343385-abb5-4b9e-a418-0268f5c2a275 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ef066a64-8601-4c15-bb28-b802eeda04e4 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16b01f2a-880a-4449-99f4-0622e7af12fc phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3d72de23-e560-4bc3-b867-4e91c6347e5a phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:212a72fa-0c8f-4deb-9364-c90061b5dfec phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:69c39e1b-cb8f-4445-9d2d-306673687f67 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62ba580b-4b9b-4ffd-932b-21e1f8f09745 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1eb75783-7455-40e9-a2b4-07eacd3fd159 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:881f2975-f7af-4b3b-a03a-ab336fd305d0 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a1ab5822-c653-4d95-aedb-3955978d16b3 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ff3fefa-7a01-4ae2-9bf0-0a077460f644 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:105918ce-6880-4890-a86d-856008542426 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:57376adc-70e7-443c-97e7-9cade9b871a2 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_phenotype HP:0001355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c858a1d2-f41e-464b-8b1c-aea59cd46844 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d482abc9-ac17-4202-bd88-dee6dac10245 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0a6bfa5b-51ec-438b-bde8-83c8a41060eb phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:06427d19-ee7c-4747-a6fa-6afe16a01e56 phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bac89875-a769-4b73-937d-ac8b36b4507d phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_phenotype HP:0002230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:662875a7-7447-4197-beda-8e67c11d760f phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_phenotype HP:0008935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a270e1b-2cbf-42f2-892e-3e60d6a344a8 phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:92c62a7c-ea55-4554-aa39-9892ea30ad00 phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:453c0441-ffb6-4dd3-b719-ccd4fc8f6da8 phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b8abf749-09e8-41ef-805c-4c40b18ffdde phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:62f963c6-f54e-4690-a264-ac77fdba1b10 phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:018e6de5-eee2-4ebb-bf10-ba75e0935b35 phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eafad2f2-eeb1-4f53-bf93-33f7fc2d7913 phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0002311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:729bfb0b-74f9-4340-ae6c-6ac5f80dec18 phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b051947c-dd7a-4698-b171-05c219ed1a1a phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8e82700-d909-47c2-81c5-9692724517d8 phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:53b0e8c8-3184-41ae-8427-133d67a8fe1c phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:78f31b1d-f60f-4a63-8323-9759a9c0bbaf phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:39cfde3b-1018-4b85-8c4d-073028d679cb phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4c9fa1ec-ae8d-4018-a7a5-f09477ecd905 phenopacket.store:SCN2A.PMID_33731876_fam228 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:093cc2e6-0510-4ec5-a5c5-b24ae41e852f phenopacket.store:SCN2A.PMID_33731876_fam228 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:58a7a41b-47e0-4457-8fe8-2bc428703234 phenopacket.store:SCN2A.PMID_33731876_fam228 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:65748244-a06c-4335-9dea-3feaadaed973 phenopacket.store:SCN2A.PMID_33731876_fam228 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3f3a9476-3e8b-43b9-a36a-a755ebba4075 phenopacket.store:SCN2A.PMID_33731876_fam228 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c64b703-4329-4034-ac19-3265d51bfb9c phenopacket.store:SCN2A.PMID_33731876_fam316 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:38c1f833-1cfb-4709-8be0-965855192a0b phenopacket.store:SCN2A.PMID_33731876_fam316 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6410245-7c6f-4aea-80d3-4dc949a76cf8 phenopacket.store:SCN2A.PMID_33731876_fam316 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:90bff377-1c64-4c37-b640-577c7c1fdddb phenopacket.store:SCN2A.PMID_33731876_fam316 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9bdf7dae-4715-4b1d-b95c-d917f4061444 phenopacket.store:SCN2A.PMID_33731876_fam316 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a279ca26-7e01-4cd2-ac8a-84e79ce546f0 phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:27a7ea47-dd10-4bd8-af30-3dfc4f118678 phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d081b1f-9976-4d55-94ba-ac8c160391de phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:04cba6d2-d866-4061-97e5-87973b3aa79f phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2c0927cd-5fda-4abc-8794-135c1abe912e phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f14715b4-28ab-4dc6-b41d-7e89495977cc phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:08b41426-d373-41e2-9349-17a61edf4082 phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2aa4f8c4-e6f6-4041-b84a-62e63565e949 phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:12ef3a00-b010-40a4-88b7-8c7fc7b2688f phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0b31b8c-c0df-47b6-9b8d-2a44a84dbb91 phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0bb2d2d-7f10-4218-b49d-da91bc7d02fa phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:745bed08-1bcf-4b77-b4c6-c4c28ffe6ad0 phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:60698f0a-1574-4354-aeb7-d09cbf8209ff phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0c7f81a7-eaba-4766-b3a3-de9556d308a7 phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:344589e3-d7fb-4112-9cba-386a82f86d15 phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2e3217a6-dcaf-4981-9790-2fcaf0a82509 phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dfbc30b9-b480-42b2-979e-d941c1231625 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:adf90cb5-6d78-4cb2-9981-b6f3c03c90d2 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4bb5c629-7555-43a7-a7ce-aad42daa75ad phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6af07e8c-1ad0-4ee9-a488-edc69e11bfb7 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2a464706-7cdc-4879-87a2-dc4d528a6d2f phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:229b13ad-613e-4f2a-94ad-05ade2dc372d phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:587608ee-75f3-4faf-ac7f-bce71c8f3e07 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:99877e33-de4d-43da-9cf5-a87036913b75 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a49977a5-c4f1-45e5-9d30-1a7c86969c0f phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5f59393e-a5d9-44c4-8776-bd700a1274fa phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62fe1c53-3f39-4aac-a507-0feeade7e9be phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:52e438fe-1a6d-4c26-9df0-722aaed2d34f phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b84e98db-cbd4-4550-9c31-7b2171e19860 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7aad10f6-7034-4445-9633-d2dfd74221bb phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f8f0baa5-5ea5-458f-b179-c5c2875d76e1 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2788dd83-3c57-4be1-abe4-aefd8ac134b0 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e2af7d9a-4e25-48c0-b045-f6b286c18242 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bbbf675a-236f-40a3-9f4a-ad987a931530 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:437bd89c-695c-420a-979c-1bdac2a6b0f5 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da991128-decb-4684-b96b-4989080cf893 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:08238e64-4d2f-4eaf-af6d-00966e1dccea phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:68dd931b-810e-4a73-b0fd-19d5d9c0203f phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0030215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0aced5bc-1a8c-4a7f-94a2-2199c7339136 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd3aaa4e-35b8-436a-ba81-a8b9d7ac43bf phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:efe41630-9886-40d0-962b-349ee9d7512b phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b3a040d8-d1c0-4556-87ab-9249a6bcfd01 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:decf1c96-c473-4db6-896b-edcf29a3a324 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:98ef0343-8abf-4260-a3d4-3dcd9159cff0 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6b37a42c-66f9-443b-9ad0-da5807e3c781 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ed8875ec-1eea-4a0a-931e-14e118b0b836 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:24641cf8-ad47-443e-9921-21b9e3882850 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f2f37dca-abd6-4a1e-b10d-a2737968be2e phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1631e2cd-bb24-4e67-b441-e7bf3b91c43c phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e37f2179-8a69-4f3a-9923-667455293f73 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:17c9fbbd-693c-4328-905c-2fb74e5d9452 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:65eebe9e-a06f-4a4a-9c50-31887544082a phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d002addf-b723-4721-92b4-0f9abc0a8862 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:86fbebe2-e70f-4d61-912d-d9698a60a7d2 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c9748097-186d-4ce0-976f-48d60434b266 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7937c443-92fe-422c-b6ce-cf372438f588 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:001f34c0-22b0-4925-a92f-150ff17cf040 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ff38d55d-5647-422f-8ff9-9384ebd06493 phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64bf6ab7-0e2e-47d2-ac57-0e42a66d27ea phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e150ee98-2c4c-4d0f-8fdb-42a009cae222 phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:915a5ec8-0fce-4731-8982-0fd42d197110 phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1979c8c1-d53e-4d0d-8d4a-17d756331b46 phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:af36dfdf-30d3-4a94-9a40-ec309c2e8f8f phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:99914615-fc9c-4c5c-80fd-aa95ddb23b58 phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50b114bc-0a74-4af7-84df-c64bf2a6d9f7 phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:69ba9c6b-14a3-45d7-a8dd-47fdce448b91 phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:97b0cacc-667a-4f08-a6ad-a913f9c8344c phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d5f28d55-9dbb-43eb-a142-c5e6af699ceb phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e21ce130-986c-4ec3-b325-9263d2ab15ec phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:817f2c43-f176-4a6a-adc3-40824ed250ba phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8fcb71e2-81a1-43f4-b1e9-6f60f0ede8fa phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bc72c7f9-2da0-4b06-a75a-1b314b898ecc phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3768bcc1-911d-4d56-8311-f77f10982c71 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:754ea7d9-5716-4a14-87d8-d32fc8ffbadf phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:79e186d7-4031-4a81-b30e-580d9563e36f phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16cea771-4658-4afd-9754-5c0137b5d304 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bbc72729-5672-4a31-b2d6-0b627eca983b phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3bfbb385-0019-4847-b387-c832339b6819 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:775c92cb-1522-452b-a391-3d976babb054 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f552c715-1492-4fcb-acc8-82f3bd177d0b phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9e2b590e-ddfd-45f4-8ac2-c179e5500ea7 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bc7c5b0a-96fb-4ac4-abba-58ab4b4b658f phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e53776ce-dae7-4d17-a624-befa1e867ba0 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a826e3a1-f49c-460b-af27-4e99311902a9 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7105439c-b322-47ad-9d15-7930a97d71b5 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2db639c4-6f89-4433-b021-0151eb011931 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:949e4a4f-1c61-46f6-8880-aeb1a3098169 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9cd93ceb-139f-4a2e-a57e-4f5eb93056ed phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ebbc44f4-e215-48cf-bcae-d2c3b5eb595e phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:147ee638-16a7-4876-a835-a41aa4fc45df phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7875773-079c-430a-8268-0337c39f8f6b phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0004373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dce1e217-f229-4592-9b74-1d47af944afb phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ec31e79-ff33-48b1-b8ec-4663ddf4eef8 phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6966c6c6-87b7-4593-ba7b-c5540a0ccbb4 phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:375e2e24-b959-44df-a6b1-8a913c477839 phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b31b3644-8c58-412a-8c5b-07379a6378e1 phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:87ea7f2b-49ea-46b1-a30c-57229a4b93aa phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8815f25-ea75-4431-ab59-a2642e480f32 phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:612099a9-d6fa-46db-bc3c-4da2efa9efff phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e546cc0e-67c5-4b57-88b3-58332c856327 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7212ac11-0466-4403-9f86-b9166b21098f phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a4cc31eb-5c4f-4130-bed9-298c06905b3c phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0bfa0ec6-31bb-4088-8de0-7b0d6e49c3d8 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a6de31ed-dfa6-49c6-a395-eab5575ab2e0 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62125b43-937b-4a81-ba4f-3a8aa8670a36 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d8a16a1b-a1c5-4dbe-a721-429ad693a9f2 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:58882eb4-d3cf-4ef0-9920-888f7b0cbf83 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f6021e80-e606-4660-aa78-4c01833dd7b7 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9239652d-5bb4-456d-b34e-659b3834a0c3 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e18ee777-780a-4ee5-98a8-f675a7aaba0e phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:695efbf2-e93a-4c0f-aef2-addbf7849926 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f2d87671-04bc-4bc5-bb20-f30ca5d65d91 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a7f4385-6027-4d19-9d0c-c7cc01bb38b8 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:870936dd-b6e3-414d-855e-b48b1f107824 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2355e893-f870-4ba0-8941-781cfe1a9512 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8c69549e-49a5-4fbf-8ec2-72097d5c9e28 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0204355d-bbad-44ab-9e5f-537b22fff443 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7ca18fe8-7f9a-4cf9-bcc1-ddf30d1a6d3f phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:209f3554-b41c-477c-ac75-7ba54c00c714 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d2d07603-5c12-4cd6-84b9-bb2246a4312a phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cb587c1f-da4a-4b5f-869e-00865025cb50 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71e0e2ed-c592-47d4-9db1-fc5dfc808e87 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6cb43c88-d1c0-479b-98a2-b5ee6c79e525 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:98be8419-f8a4-4ae6-97cf-d25fa02db62d phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cca4ee7e-471b-4f9f-a6d2-f7710e4b79db phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:650ba6ad-6c83-40bb-9ae0-c2b58b7dedb8 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:37891234-2f2b-4099-9291-af3149e0fca1 phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c20d07ff-0326-4b67-a916-aa6b9d29d4b6 phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f80568c8-1752-49c0-96d0-a8a090dd0d98 phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a0084e75-7af2-48ec-a1e1-47b26bda870c phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ed5b6626-ad16-4002-a5fa-b2fd347f82e3 phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:36a1cf3b-4248-48a4-8bec-918b33c963ab phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:980e5746-7c46-44e9-aba3-8eabd286327d phenopacket.store:SCN2A.PMID_33731876_fam100 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1d144734-cbbd-4f8d-8ce9-8bde6b7ea81c phenopacket.store:SCN2A.PMID_33731876_fam100 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b894094f-2022-485a-8c94-f158e35bc1fb phenopacket.store:SCN2A.PMID_33731876_fam100 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f0e23324-5415-432e-b86e-241f033578e8 phenopacket.store:SCN2A.PMID_33731876_fam100 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6a9c9d82-9ae6-41c5-bb9d-1754a1fee2ee phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8358f820-be27-4bb0-aa8f-4f7dd116499b phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9c5cdf60-b38a-495f-9879-1580ac19302e phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:48ade53a-ed5b-4d16-920a-a1b13cfe69d8 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cb62f817-3f7e-4db0-918d-5ccd70b87399 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5186cf65-8efe-4122-8f42-10728822d3a8 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7ee47436-6867-400c-8620-503eacc3523b phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:74c7e28a-b008-498f-8502-42769b2c6a0d phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ce4ebc77-7c0a-4ae0-ba36-4c3871d0bbe4 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:68550efc-aa24-461f-b81e-6c7576a7ab57 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f31381e8-c948-49b9-b10b-4c710ce7b67e phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f7819eb7-0f0b-406e-8337-242af6cc175c phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb760869-c9f1-4d20-a434-c4afd70ccbe7 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:003c7ca7-f58f-4058-ab50-d20003facdd1 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6b8c87af-c9bb-4d69-b4cd-a0d97875c270 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:24b743fc-4bd7-4baf-bc85-568e2838be64 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4104b51f-fdcb-4de0-888c-c55e6c6bb412 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e39e94cd-4441-4002-8561-194d92ca4728 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6554a83f-9337-43f3-a7a8-95f98b6424f5 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9ca66c8c-cd51-41a6-9e6c-2e36c2baab43 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21281f94-ca62-48e1-b1d4-57099eeb91f1 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:df247e99-c4f8-4708-a1b2-e2c3eed2c95e phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b47b2a3f-8e20-4009-8953-e7eb19f94fb3 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5d88ab8e-7256-459f-b9c8-83c1b25ad613 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:336b0a78-4a0f-4114-a89b-2d241691e3e2 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3437c6c0-94e7-42c9-91ef-65a05258efb4 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b238d172-8460-4717-b51e-3ea78303236d phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb05e631-06c4-45e1-b5c0-969e19a7f920 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee9e89f9-ecb6-4b6b-9fbe-3d8c501e93ab phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dad06147-e39d-4ca3-bba1-0e6296069b93 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0eb0737f-2fd8-4b94-a8a8-92fe8a77fd5d phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f24fd816-7a87-4b6c-a801-0e85372f9d5e phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a7c69f9f-9753-4ab7-bc0f-21e0001327fd phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e35f4fe1-9fe5-4f2a-a03e-690e34445e63 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:12a347b3-81f8-4e2e-8e6c-2020c818dcca phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40408f0a-7621-45a0-99de-fffc1dcc2ba0 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0025097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:561a79a8-e264-4528-9035-0c4c33586c72 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ed6bc213-0b63-41e3-a648-b126a6379ef6 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cdc417ac-75c9-4268-8992-6a3d7685ce0a phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9aed9883-b2e2-4951-882e-7742e5550cb3 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67264ef8-3d13-4cf9-b945-9f748dbe14c8 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4dfcdd9b-ea73-4055-aaaf-f63a7c84ae71 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:201bb590-18fb-4be1-86ec-a6a6430bdb99 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5a1956db-da6b-4fbd-94a0-4d7fa1205e8b phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cd3246a3-b3de-4774-b829-2df7bd297461 phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:57d3c141-bb78-4344-9702-e1bf11fe2d8f phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3e0463d0-8ce7-4b1b-abc8-8aee159ea1e1 phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b2ef87a2-cd22-4aaa-ac72-50d6cd984e63 phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:65608af6-7ebe-470b-9aeb-5759e00c236d phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bcebcb47-a62f-4705-b1c3-1a7db4f92705 phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:95f79357-86e7-450f-82a1-3d7445484bce phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d5c04000-fdcc-4f4b-812f-90f69ea90b4a phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:547b99da-12f6-43cc-ae56-12753691b8bc phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a40aab36-de69-4571-a064-63642caee6cb phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7faccec-83ab-409b-8b08-fa71dbbcb8ee phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d05f2e02-f277-425f-ae87-02f91b043877 phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:469fce41-53dc-4cfb-a3ea-010a27381396 phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:74d1ddfb-94aa-4386-b466-9bfb487f980c phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8f906f0f-5d13-41b0-850e-caa66cf3beec phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b254c2e3-e7fe-4d51-979a-81d0ab7a111c phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b9e43147-af12-42d6-816f-c387778d88d3 phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba9644ae-8c22-45a6-8b24-534e488190f1 phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fbf0fc52-7e70-4d50-8978-4e9e2ecad90b phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8fa918c3-b822-44c1-9487-e72997e65d55 phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6b0ce6a3-cc8d-4e62-a43f-a49a94cfdb27 phenopacket.store:SCN2A.PMID_33731876_fam387 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cef8ed2c-1482-4704-a5e4-581011a60db0 phenopacket.store:SCN2A.PMID_33731876_fam387 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:22266c5a-8a1f-4577-8c8d-e8c1585ccf56 phenopacket.store:SCN2A.PMID_33731876_fam387 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a04cde95-e210-42b3-b637-4f2252832316 phenopacket.store:SCN2A.PMID_33731876_fam387 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:033ba651-d338-4c39-a746-30a529a451ee phenopacket.store:SCN2A.PMID_33731876_fam387 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:685c40a8-1770-4f87-8a7f-656993831af6 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26a17f9c-30fa-4ccd-8039-eaa094a3f4a5 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:936136bd-1b89-4d17-8878-17a4362ff59b phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee008fa4-bf81-4dd2-93ae-bebec2fec2d5 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b5e5f473-67f3-447a-b39b-dccbbc47c762 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7642ee1-a908-4606-9db9-f6ebd1601586 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4325f305-d4ce-4dc7-8785-6861a9ed5c73 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:773d5268-7e4f-402c-92bc-5ca99c729e18 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e4e1d018-a0a8-4413-8fec-f5e9734d3df5 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6a3d5c93-8bd0-4c23-bfb6-0ee6aa2161fd phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c90f80a-83e5-462d-8558-e7de85e214aa phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4e1801e8-6fe2-4bbb-a0a5-faba164a609d phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:09198c4d-70ce-49aa-97c3-1f66d4763ab4 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8cf31a5-4ceb-42fc-be71-7ed90cd37ab9 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7a0fbc3-a7ea-4df7-8193-66845eccc807 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6bf42d8-e858-4079-a2a6-72fa0be57881 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc0b7e40-f2a7-4b33-a1da-3633592a44d3 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:610df6d7-35c5-4fa2-8da4-9c35bee20a1a phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1fca9a7b-e914-466d-a66b-0553aba127f8 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:997e0747-ac18-45d1-aeae-fdde23054895 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2f73ad8e-e9ed-493d-9ea3-a5446c253085 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0b34911c-109b-4035-b68c-a56225c07295 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2395c99b-44f0-4bea-816b-05c7d16cb16d phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:65afa78e-69ab-44b0-9d61-1c1265422c02 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:13332095-ac66-410b-b54d-719f56d886f1 phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e9475815-a7a6-453f-b74d-9e5852888743 phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:abeffd4b-8eeb-4e65-8297-d2c38cd7e86b phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f62000b3-281e-4181-b95f-9704eff09be0 phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3ff74141-cdc2-4897-a000-ba4b52908275 phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fa017628-bee2-4d3c-bb97-dac5bc8ba11a phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b375c7ff-ba47-4b41-adc6-cff3f7bc549c phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5fae08e2-68b3-43ad-b2d9-98609b2daebe phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f142b664-3881-42ab-834f-45a998336421 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d8e36fb-0e63-4662-8e2c-813f90af0e19 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0000846 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7c619d74-8a16-44a7-aa3c-50c1ddfd3e25 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b77de9b-4666-468d-a55c-e6272d415c51 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bfdcb970-b40e-4ffd-97eb-2bd29202bcae phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fadb9045-c2b3-468f-b965-701472c950a7 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dedebf89-a18a-422d-b883-c5ace7226429 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91f669e9-d89c-43dd-8bb4-58f9a98dfd39 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ecbebcc-597a-4d6b-b35d-8706510ea575 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:92e1e69f-8efe-4144-8bdb-4ad3da7d3152 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:11db665b-2c72-4256-8c11-1e89603554cd phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1c4ab815-2380-4cac-823b-dc2a7b9fcda1 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8e93c6a0-579c-4618-a422-91ba640d499e phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c5494cdf-d56d-49e6-9666-e9a9add9d107 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:19a796f0-9e04-4fb8-87a0-f544bf136684 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a3d0ede-354c-4706-8939-0ee23eee2286 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a60d744d-1d0e-4b17-b264-9d7e892cb511 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91db16f9-60c6-443c-885d-2a81e23f7ab5 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:751fec04-75f1-4d2d-9b50-06bcf51f454b phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f53f066-221b-41a1-aed7-7a6e9e629840 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:192eeca7-40b5-4db1-82b0-8a718362842a phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a746301a-57ad-436f-90e4-02bf74b449f2 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a747c29-20ed-407d-80af-ab2c17aebd51 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a3955ee-d2a0-4c5a-b388-e7ec6a6abac2 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f238e6e-7974-479d-90a3-ad73cac296fb phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7c4f8ad7-de62-4e9d-a056-6177763e36ea phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1b8655f9-ed59-412b-9fdf-f5d45b758513 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:70b4a881-b7d7-40a6-91d1-e37cf01dbf0f phenopacket.store:SCN2A.PMID_33731876_fam200 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f58709ff-9c09-4afc-a104-94826c5e19f7 phenopacket.store:SCN2A.PMID_33731876_fam200 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e65ce44d-8af8-4afb-a09a-bc87358bb109 phenopacket.store:SCN2A.PMID_33731876_fam200 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7ea2ebfa-10e1-4a78-b80d-d418c35e77b2 phenopacket.store:SCN2A.PMID_33731876_fam200 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:45e0bfcd-3164-48ee-93bb-4464bd77a1e5 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9a7cc46-008e-4129-8c15-d937884f4444 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6be60497-c2ac-4372-9b4e-67cafcb9d052 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8277cefb-2f16-44cf-b16a-d0075f6dd70f phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:23e26718-b0d6-4417-a594-0ff51c743873 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c3d45343-a555-4ee1-b362-0fe29d5d6763 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:78d2cd22-1a78-4eb5-ae21-0900db2c7e31 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9423a03-0b15-450b-a263-1c7598a227a6 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d1acaf0-9365-4c2d-9eb6-99223de944cf phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:96fed42f-581a-4b11-8a38-ab3afd54eef3 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:de534034-e800-4fba-bb6f-56d2dd0c5f15 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:59659957-827e-4bf9-946c-9290399ad2b7 phenopacket.store:SCN2A.PMID_33731876_fam263 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ef174b28-cffa-44e0-8f69-99667ee7a115 phenopacket.store:SCN2A.PMID_33731876_fam263 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b899a08d-ce28-4344-99cd-191a53352f3c phenopacket.store:SCN2A.PMID_33731876_fam263 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:783e4574-7a9a-408a-8305-1c295dec202f phenopacket.store:SCN2A.PMID_33731876_fam263 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1d7deb4f-bd93-44a9-938c-4703d1887614 phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de14787f-905c-4285-928e-44a44c370cd7 phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3522bab7-ba5c-4c4d-9b5a-cba9525cda28 phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b137228e-907f-423f-bc4a-1e7fdf14ab7d phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:211f091d-ddc9-475a-8746-f6c59146d879 phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:35a03454-2b5b-450c-beef-5f77ee3e5cb8 phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:52a81a5e-fabc-4783-b067-bc85c4093261 phenopacket.store:SCN2A.PMID_33731876_fam334 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f80a847b-93fb-4e76-85c9-ea75308581ca phenopacket.store:SCN2A.PMID_33731876_fam334 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee221780-ac8e-454e-bbc6-8352aacd089b phenopacket.store:SCN2A.PMID_33731876_fam334 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:31569e93-e345-4b9e-9aa9-f6d4fb2f01c4 phenopacket.store:SCN2A.PMID_33731876_fam334 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d6adac9c-ecdd-4238-9144-4246a4b6997e phenopacket.store:SCN2A.PMID_33731876_fam214 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a950a0c3-e52b-4b36-88cd-70f59f053803 phenopacket.store:SCN2A.PMID_33731876_fam214 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6cf31c3a-d1d2-4b11-a9ee-179563e2333f phenopacket.store:SCN2A.PMID_33731876_fam214 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:45090264-1e50-4127-8742-1b3fb4ba47dc phenopacket.store:SCN2A.PMID_33731876_fam214 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f0e84498-e92f-4448-902e-acf1503a404e phenopacket.store:SCN2A.PMID_33731876_fam214 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:65f8256e-1dc6-48f0-ba53-4a3cdcd46056 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f31d10c9-08e8-4735-b1f0-965c99f67c28 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e8581342-7579-4d19-bb8b-b39915cfaf7b phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d1270eda-7e27-457d-a150-9d7bb569c97b phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1032e3b3-4aac-4df5-9435-98f2954f4f68 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dbc35bab-93da-4886-a5eb-ab6239a12a75 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d995b223-9684-4502-993c-37c5f0b823c9 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:32fd5a73-3a3d-473d-ba5a-f4211aff2fc9 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:26a73739-bf0d-4c8b-a7a1-4d29d200ff3a phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c7e257a-2bb9-42af-87e4-647dc651de4a phenopacket.store:SCN2A.PMID_33731876_fam159 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:070cc7a7-ea51-4c60-b6e3-c87eb0781a26 phenopacket.store:SCN2A.PMID_33731876_fam159 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:99f0a92c-128e-419c-a299-7ea361466036 phenopacket.store:SCN2A.PMID_33731876_fam159 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:99ad9c22-ac63-41d2-8045-eacdea2b7cef phenopacket.store:SCN2A.PMID_33731876_fam159 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:abd989a5-25d0-4886-9086-1fbf5d3d2ea7 phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ce4b5e0c-3cb4-4b9c-8674-1c6009a37895 phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f9b634b-b913-4ff6-94af-70d9a4217ba4 phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:52256dd5-aee4-4f52-be1e-9300cf8e6fa0 phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5a601c2b-178f-4130-ab49-ffe0557dc6fa phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dd1bb8db-607b-496e-bed4-246cb0737f24 phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:00673180-edbc-40b3-b21f-b0d21e7a065d phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b7d77ded-b65d-4eff-aa37-92b3f77432c2 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f82b59fd-b235-4e02-a185-4442076e9212 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5050a0cc-77a9-476d-8409-ebcc16832406 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:027be682-31f4-47c7-b75c-58b03b885ae2 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:248cc3c4-97f5-4dbd-ac9a-b35469c647c9 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:519ed405-4616-4b73-a631-b0b2d718d68d phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:35a25d24-8b4c-4365-8592-e7e194328977 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:740604a2-665d-4c7e-bb71-b98361f4ccd0 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a6b6d263-b001-49b4-ad4e-11ece12af3df phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6f96e104-ada4-411a-84ff-8617a10c0bcd phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b7a35c6e-223f-4f3d-b61c-fa71393ecabc phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d864c711-d3d4-4340-8cab-89f64a522a6e phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:636ce26c-ddef-43cf-bf8f-37d560f580d2 phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c0776065-e540-4ab7-a924-ca84054155d7 phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:844ef104-d7ee-42b2-8315-7fd3e6679aec phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc3160a8-7884-468b-8cc3-b580cf649bbd phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e22e23e8-7b01-4856-8c11-c46e1a672ca9 phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_phenotype HP:0005957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3fd3232a-031b-4eab-8edd-941bab8d5b83 phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f19f8e2e-3c14-4662-9260-7c073d02cb78 phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1111508b-b2d4-485d-9712-6688729acc0c phenopacket.store:SCN2A.PMID_33731876_fam239 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:416af3e6-eb64-4dc9-9aa9-d4a8911f104f phenopacket.store:SCN2A.PMID_33731876_fam239 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0461907b-86ca-4a0d-b1cd-3bf953154dbd phenopacket.store:SCN2A.PMID_33731876_fam239 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5a898a9e-d030-470c-99e6-1dad65417ddf phenopacket.store:SCN2A.PMID_33731876_fam239 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c763e19c-0277-48bf-b31a-dc51d154bdb5 phenopacket.store:SCN2A.PMID_33731876_fam239 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:37309b08-39f9-4785-9d1a-123830f4669c phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3f474023-11a3-4a61-9cd3-dd03bb7708ce phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8a4c8baa-4334-4dea-9df7-1180e248fccb phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:903f4f37-b655-4f68-93c1-9b3b2f5fafa5 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5915a306-8634-45b9-ab49-f430ef884ce2 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a20ba81f-4a58-42fd-857f-acc1c8153db4 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:33c3ab0b-437b-4d25-9aef-af678c915661 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf2b4d0d-6b95-4456-be2a-393b8e6f9d1e phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cdcfc1fa-9988-47b8-b55a-48e4a02a82a1 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d27cd59b-5528-4c5e-b41d-9268a7f676ec phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:81bebced-9209-4483-beb2-7b20298403c8 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e5f5ab1a-8a02-4974-9bf9-b6bac0efe333 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e299b5c7-65e4-4b11-bcdd-9fbd36da0c7a phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5d4aa3fb-3e49-4759-b5de-58032673c35b phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8095ff86-fe10-4a09-b5c4-f0548a78a602 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c03dad63-f80f-4ae4-8748-19728b5c41a0 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0000992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:57ec46a7-fcb9-4fe2-932d-a6223099f181 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf33c3b7-588b-4579-94e5-77c6a0852c95 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aef22a30-f4c2-40a8-8701-b4574597de2a phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3f5208a9-8237-4ca3-9879-7c006cd5dab0 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0afaf806-6f13-48de-af83-c127bd263715 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fe6c3906-efb7-4b7c-8679-eb75335abf19 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2876739d-0fdc-4763-b5fb-3670d8d13a79 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e7433fc3-c760-432a-b347-d7341a47fce1 phenopacket.store:SCN2A.PMID_33731876_fam167 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f40b5aa-27ef-4ef4-82fc-6ccc183f38c8 phenopacket.store:SCN2A.PMID_33731876_fam167 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9da808e9-1112-407a-b23a-4bde99527455 phenopacket.store:SCN2A.PMID_33731876_fam167 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:34415d59-8b3b-4e37-8cbd-9c93caed99e0 phenopacket.store:SCN2A.PMID_33731876_fam167 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e945e0d4-870c-4067-8b6e-596049d53c27 phenopacket.store:SCN2A.PMID_33731876_fam327 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:113b2f7c-8074-4d6a-bc95-00f67c30891b phenopacket.store:SCN2A.PMID_33731876_fam327 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5347cc6d-a86e-46d2-b54e-ce0e315cdbb2 phenopacket.store:SCN2A.PMID_33731876_fam327 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2423b558-fef1-4fab-b37a-381cde046db6 phenopacket.store:SCN2A.PMID_33731876_fam327 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:15793687-271e-49bb-8d18-895a27c98823 phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bd3d66d7-7764-4612-9e27-eea5e8cc4e73 phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3b94689c-e12b-4d6f-a417-c8d634085dfd phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a292a4c2-e0c5-4d74-af27-433bffeb1d2f phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:615cd1ad-1eff-47e1-8380-1485468d85c9 phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:264d2bf4-d780-498a-acf2-5d802ecaf1ab phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2cae211c-76b1-473d-96f9-f3ff100b9bcf phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:23a0e7ae-733a-4bde-935c-b49c9b985773 phenopacket.store:SCN2A.PMID_33731876_fam281 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af451e66-160e-4227-b2d1-c595b96eb64e phenopacket.store:SCN2A.PMID_33731876_fam281 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c278eb28-8c82-47f7-9dfd-bd11f2e4415b phenopacket.store:SCN2A.PMID_33731876_fam281 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c5336bf4-7396-4260-adf2-a7904fd1fb65 phenopacket.store:SCN2A.PMID_33731876_fam105 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:85cfe6ac-09b1-45fc-ae63-5dccc91c37b6 phenopacket.store:SCN2A.PMID_33731876_fam105 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2c09bfdc-e04f-4da6-8895-8457b091b9b2 phenopacket.store:SCN2A.PMID_33731876_fam105 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1d1df128-c315-496f-9749-9a9a3d9e4e00 phenopacket.store:SCN2A.PMID_33731876_fam105 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bd400f1e-a60d-40f7-a233-cdb0f6d7618a phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:72272e30-72c5-4e7a-bec1-74c4261694fa phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2bc22ae8-b9c7-4529-b045-0beebcf826f6 phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:815b521e-06e2-41e6-af80-3f1e15ba9af9 phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da9a2fc3-c0a3-4dcc-b168-9740deeabdf8 phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:74e6c292-366b-43d8-899a-ac1d4f4ac24e phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:16391757-d7dd-486b-8aab-7f0b7050d010 phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:68381a6c-ee27-4078-b61f-e16ad7d44ff9 phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9ed0e71e-42e8-43dc-b264-676bd034715e phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:846c62a5-8aa6-49b4-ac32-53eff6e5fa4e phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f33178e0-9cd3-4553-b4ff-8c67d33f68c4 phenopacket.store:SCN2A.PMID_33731876_fam421 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4eb82f47-e3f5-4989-8531-96b09ca1771e phenopacket.store:SCN2A.PMID_33731876_fam421 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:85cf27d8-e91a-4832-bc33-25c9cc9ad0e9 phenopacket.store:SCN2A.PMID_33731876_fam421 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:111b15fc-0b5d-4839-a006-f06f371a7c0c phenopacket.store:SCN2A.PMID_33731876_fam421 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:574d1ef4-31b5-4b8e-887b-ebd4f25729eb phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:476b622b-3491-48be-b203-429d2564d921 phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de69bbad-c777-49f4-8132-e74d6f94fcaf phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:664ae860-f141-489e-9eff-c9d62a1dd1da phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:029e4d92-d9e7-44f4-bc03-b1a587a07893 phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9daa2d12-8f70-428e-b662-25274670de20 phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:166d40d8-442b-4d9b-a0fd-19a2eda502ae phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:81ff492c-0dbd-458d-ac29-395b34c1974a phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:96885c0c-4a21-4ba5-82ec-0f9ac58f3c56 phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:132a05ea-7864-41d2-aa2e-7f7c5b89ebb3 phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7831192b-890e-4ffb-8831-89a3abc1fad8 phenopacket.store:SCN2A.PMID_33731876_fam283 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3dc32a88-4f73-44d3-a29f-fc97125a9907 phenopacket.store:SCN2A.PMID_33731876_fam283 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c5871fd4-8411-4306-8df7-f517a6c0d813 phenopacket.store:SCN2A.PMID_33731876_fam283 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5cbbc0d6-132c-431b-80f0-3c1dc0a17988 phenopacket.store:SCN2A.PMID_33731876_fam282 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:78a94784-8d4c-462b-bbdc-2ae19bc40fc3 phenopacket.store:SCN2A.PMID_33731876_fam282 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1e20007a-a7b2-469b-8f5e-6b811ff90bc5 phenopacket.store:SCN2A.PMID_33731876_fam282 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6ce1f20b-c615-4b64-a53d-0f11575ef54f phenopacket.store:SCN2A.PMID_33731876_fam146 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:331fda7f-82ee-416a-b6e3-62eddeaaa84c phenopacket.store:SCN2A.PMID_33731876_fam146 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f9a49d13-8f79-48eb-a45d-55ec7dbe634d phenopacket.store:SCN2A.PMID_33731876_fam146 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:639e0446-9434-4c0b-b6dc-13c4ac610044 phenopacket.store:SCN2A.PMID_33731876_fam146 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3ab33ac2-8deb-459a-a1bf-7ef34ac57e08 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:687a0c85-cce1-4ae6-86db-8baed641b4f4 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bbff19de-357b-4f37-9eed-e42c450700f9 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0dc051c4-dfe3-440f-ba48-b6eccf9baefe phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0d6f2b5-9201-446c-9e99-cc130949d1f3 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0012017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32750269-8790-4d1b-b3f7-b8dc6497a768 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0011288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f3e77d59-dbfb-42aa-8b02-4a92dcb38d0a phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7ebbe111-8a95-4e80-9163-d00f4b7ce48d phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0011289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4cec78c7-dbde-4075-bced-9a03e411a467 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd38a115-e173-4fb3-a03f-c939b7f63d17 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c759541-04e2-42d9-96de-c60b16e30315 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0991a9ec-800b-4d9d-a6d0-0c1f7aa539d7 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e5b543c9-2c28-4938-86de-eb68b416b79d phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eca645d2-192e-43cb-ab8d-bbd6f4561838 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:654b1b4e-5245-4203-932c-37608328259e phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f5cd1437-852e-43d5-8c2b-644d054a6138 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3eaaf2f1-9581-4602-8dba-92a7593c3dec phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:012942b6-6563-4b99-9307-b814e183b57d phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb10d10f-b8d8-4265-8268-d0fcbb76c3c2 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:85dbf1c6-62a2-4768-b44b-271e06b2ef55 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f6a2731a-d45c-47df-b274-3848e0b1731f phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e64d4f09-b81a-4677-9e3e-106a4973f061 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0032059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:45121d19-b259-49a4-b0e4-3269a0fb94c0 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0d6ed1db-3242-43cf-bead-2bbbb9485406 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b551de5e-f014-48b5-8fdc-2bcc1e5cb255 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:da899cf3-083e-4830-ac8a-7c371eb0a975 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:98cad505-0888-4687-a954-c18e3af0c7f1 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:648d9eda-9e59-4b9a-9bf5-fbaad0ba4f01 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:86bef608-c347-488f-8971-1bdd21908925 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8226c640-7bfa-4d3b-993b-c56590183750 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:02e169c4-ef19-4fea-95a6-4a3ef54e53b6 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bc557a22-1248-437d-9ae8-4fb755f94607 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e7cb3eff-cf3d-43d6-9d80-6be6a3820e7c phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6237a89a-4187-42ff-a29f-52c840ee4f61 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:efe0903d-c025-403f-89cd-5afcbe8c9476 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5f0d5be-bd62-44b6-85ab-d4576e036ef3 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64c49ae6-ed31-4efb-98d4-9d82cbbbeec0 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:94cc4542-5153-4fd2-bcfd-ebdfea4bbde1 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8d05ff65-8ffc-4b0b-8d59-858ad7f39bc4 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d311f36d-77cf-4860-857a-0926af530ffb phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:af2df66a-405e-4a8e-a313-06d26cba2b15 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c0c2d9cd-05c4-488a-ac39-cc494b776dd8 phenopacket.store:SCN2A.PMID_33731876_fam284 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ab434c2-3e66-4a1a-b963-fc2f5b30ee22 phenopacket.store:SCN2A.PMID_33731876_fam284 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f9606760-7ceb-4c81-a8e1-4a4f2338bd22 phenopacket.store:SCN2A.PMID_33731876_fam284 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:98ac11a4-6b4e-4568-82d8-e0874960d42b phenopacket.store:SCN2A.PMID_33731876_fam77 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1e2ea3eb-aa56-4a26-9a83-b272c4c71fa9 phenopacket.store:SCN2A.PMID_33731876_fam77 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ee236174-6a3b-4457-b0a4-f607b6aa24c2 phenopacket.store:SCN2A.PMID_33731876_fam77 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:95f6a2c4-e68e-42a3-b67e-d1f2d95495c0 phenopacket.store:SCN2A.PMID_33731876_fam77 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:33d49672-b884-4ad5-bd9f-06666a0f2b20 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d150d775-3c25-4f26-b03d-6affcdc14420 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:23360824-f4cf-4874-af0e-e52c4fd47917 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:895f624b-8b02-4b3f-b2fd-28c03178fd88 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3297cf06-881b-4dae-b8e5-47b1fdf7eef9 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b24efbbe-0467-4392-a29f-a4e1859ee691 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:83801cff-7b85-4cd3-af12-4892ca13d1f8 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ca806c39-5631-484a-a169-12c8c8833b11 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ff8ff42e-5063-4adc-87dc-61c986d96bde phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:611f610e-60be-4938-a4ed-7b41938e5890 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0011289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf1a7b37-0b0b-428f-92fc-230aa5160cd1 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a801017d-e6f7-4bc2-a250-be19c88559ad phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7c37a7d-a77d-4d80-9681-d6be66f53c59 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4e2d587d-11e9-49ec-9617-1159ce00dc56 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7962f6e1-90eb-4642-9a23-e437456015d4 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0002912 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f3701811-c002-4ab9-a1cb-f69aa873f880 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4005af0e-dc5f-4836-9f9b-bc9a89a5af68 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c2c6dacf-9fd9-46f3-a07f-87d990206974 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:702104c9-302b-4b99-9f5a-5e76b0c35275 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e29c6c57-85f5-400b-ac19-6587b4db909d phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d730f41b-f882-4e32-9ffe-9775ee6ce51c phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:90cd333b-d0d1-44a7-b7c1-71c19c69b2e0 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cb5688d2-a94f-4f14-9099-2e7974b98275 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67078c57-23aa-4981-a3d7-a4a19b2ab163 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9022c8b6-c256-4650-929d-01018b04f546 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b861d871-bd02-4597-9f0a-47162413a28e phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:740fccd8-c33f-4b63-a32d-8ec0315d3711 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:33d5f133-ebc6-4d06-91cf-e286904a17de phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4a1cc1a6-b744-4eed-b553-726cbcef0d3a phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ad974333-1f4b-412a-8927-71bd921ae4b6 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9245cba6-d471-42af-a20b-93fba677aaaf phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5c30940d-8fd5-48d5-9d58-4eaace692fc6 phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b68e6e5c-0cfd-485d-9e11-0c98144779ac phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fbbba3f7-4cd0-4f5a-8805-37d52469268c phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8cb1db9a-92e3-4986-89d4-6fa00af0dc43 phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc165d34-77ed-4d18-a0d6-3e016224e0c5 phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:eccdd829-9a31-41d0-9624-72f1d7788bf6 phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ebb06ab0-4c38-46bf-a0cc-4e72335846a2 phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4376a8c9-6881-4ebe-980c-ef521b1eb73a phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a718b285-0b77-465d-b8da-04d0bd161e9e phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:91714e7f-4c17-405c-ba3a-f5a888dc35cd phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e7c1296d-2c3d-411a-93bb-9458f92c96b6 phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:63fb5679-659f-4e6e-bab5-ee446ca396bc phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0f502aa-a776-433f-abbe-773cb2e68c1a phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0d631817-1d78-459f-8f10-19d3af92c64a phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bdf1593e-f2a1-41fd-a526-5f029df69203 phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9b2f6c6b-40ce-4d47-9b53-42399b2c9e6a phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4cf1e79e-aecb-4b03-8c0b-e8d5da205a18 phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:97b56ffc-c124-428e-9719-b028b26443bd phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0c9a9a77-652f-4e0a-b8b3-78893207acdf phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:78b5232d-a223-4fdc-9d81-1b927b08d278 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee9f46b7-5383-4657-b18b-c68758828ea4 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0007371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f40ebd5b-d7a5-4438-8b38-6deabc349509 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8ca5f8c-922b-45d7-beab-8f3039705c95 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3196964c-82ff-430c-b39f-64fce053a8ef phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6fd3da29-1a56-4070-b556-e4de34b11a02 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc5afb2b-ac91-4f2f-a625-812d50e104c9 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:769cdfe2-987d-4acd-be69-fb99999a0275 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:81d2474e-c375-4726-b08a-6288a6b10013 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4cbd5286-b01d-4e4c-ba83-3f483811ee94 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c4c8ed7e-f340-4ead-8ba4-c592b9c355eb phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:191e0bc9-3e54-4812-9146-32e3b7ed9525 phenopacket.store:SCN2A.PMID_33731876_fam142 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44f3c57d-b076-4277-aa3b-05b4ca5ff471 phenopacket.store:SCN2A.PMID_33731876_fam142 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3067fb42-3021-404f-9539-8950918fc309 phenopacket.store:SCN2A.PMID_33731876_fam142 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:04e1f7f9-9688-41f3-b0bc-6fbdbc721f41 phenopacket.store:SCN2A.PMID_33731876_fam142 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c133c88e-59dc-4c06-b47d-843064652c36 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:29ca97bd-8820-4482-86ae-d2f622e27b94 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:79eb0ffe-2530-4808-8245-63df16b8b012 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aefdaa47-6b2c-4cd1-b796-1a54804b9eee phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c11c67b7-3fc5-4764-9d6d-afbe8f3198b8 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64857ee0-3901-4b4e-9c91-c845337e93ad phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c7d94b4-eafa-42ef-b139-d162c96d1369 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:978464ce-ab1b-45b6-8882-5991252b9988 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4d49a408-165e-4dc9-8453-ee570370ad7a phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b48a6c04-9b7f-449e-8171-b2c06dcb0b70 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4eca3032-74d9-44ec-b6e9-331de9da6b21 phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:56d7649b-af21-4f91-a46c-6015829a51db phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d34c6108-57d5-4df2-b4d6-c3e1f645ae56 phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:09d65d77-4707-4340-9ed7-92bea4a7fbc3 phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:dfc78cdb-71ff-48a9-be7a-2972f36eb780 phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:39b61e61-814c-4aa5-bd16-41bb86d8b4bc phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1d585e71-a012-4986-8cd6-faa9f5c96b43 phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:039602bf-8231-4f6f-8041-d28cf06e3719 phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:78708883-9a1e-4887-a339-1e0b8b27a5ec phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a1a9bad4-7519-4146-8373-7172dfee767d phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8181d669-f60c-4a36-bbdf-eff6162be7fe phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5ef2c1ca-a1bf-4176-a5d1-6cbc2bd6734c phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f609272b-a19c-48ab-871a-8468345bb5e4 phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9bdcd24d-5d14-49a6-b7b8-a6fc784951ae phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7f03678e-ccd1-4056-a4b0-accfb6e0fc11 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:804ef005-2950-4c43-99ab-cd73b6183586 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3c18579e-e381-4a34-8ba4-698a5a1f80ad phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8b4687cb-5e1a-42ed-88fe-d106f4591caf phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:38f471ae-cd70-471e-a184-3510d618bb17 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa8b45c4-1acb-41c0-b425-02272d607b50 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3c104cf1-877d-4098-8df0-40893c2129ba phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:42f9d338-c75c-444e-afe1-db2e0d5b8f5b phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:43464fda-c942-48f8-a906-dbb77fe763c8 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c6f3bc69-4404-419c-ad58-9a54410fc0c9 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:83203595-90ad-4736-9ec0-4a0ba0791c74 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d6884f2f-ad57-4e01-8641-3be83e182fa6 phenopacket.store:SCN2A.PMID_33731876_fam318 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4fae1e14-9743-441f-9f75-40caa7d2655c phenopacket.store:SCN2A.PMID_33731876_fam318 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:538e8d9c-91cd-4064-80ac-0eefc5703ad1 phenopacket.store:SCN2A.PMID_33731876_fam318 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:506a7cb1-260f-48b0-ae14-2ca0508ed35d phenopacket.store:SCN2A.PMID_33731876_fam318 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:941a1956-b4ae-4fa0-a622-77a04944a98d phenopacket.store:SCN2A.PMID_33731876_fam318 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ced54c46-8f10-4aa4-b16c-275363f3059a phenopacket.store:SCN2A.PMID_33731876_fam135 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5cdcbe69-fe3c-48fd-87bd-4757057552fc phenopacket.store:SCN2A.PMID_33731876_fam135 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6ecfedb8-8d3e-4517-920d-ce1ef9d8429b phenopacket.store:SCN2A.PMID_33731876_fam135 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:761ed1fd-cc0e-41a5-831a-1556ef9b088b phenopacket.store:SCN2A.PMID_33731876_fam135 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fc24a7dd-ee1a-46df-b656-6e1c1876fd35 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0025039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3c87898f-44c4-4a71-925b-589808a72810 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:658bf8bd-de32-4cff-8395-68d36a60ae47 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b2b17f71-9a1c-46e9-8c8c-bd30653d8208 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:89e29ada-ca2e-4991-81cc-f615927a2761 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0012692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5c1838d5-53fb-49b9-b0e3-69d958993b89 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6afcdda1-0203-4d45-90f3-3a6d12b8ca74 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40e1ebab-8f47-4b24-af7c-2da581ec7af7 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:085bbd4a-b494-460a-94b9-8671b7748c33 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b7c0fc69-0051-45cc-9e5d-f76f8323432a phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:060d936a-b6b5-49e3-a98e-bd8c8eef0f18 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:694b1b08-8f09-4454-83d3-d6ae1b381798 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f1b8ed7a-e9a5-441f-b79f-27c61faa05f0 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:96721b36-e533-4530-9ef5-917d05e010b7 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:404bce65-260f-4e85-bee4-dd525c2e4027 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2756ae76-84a1-45f6-9eac-6d43223ea46e phenopacket.store:SCN2A.PMID_33731876_fam301 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b059f63c-7463-4589-a6d0-47c491751157 phenopacket.store:SCN2A.PMID_33731876_fam301 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:76afa2f4-a7f1-47bc-ac63-a3ced3dff5e5 phenopacket.store:SCN2A.PMID_33731876_fam301 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fec16923-e6c7-4cd7-beff-6921e99c9042 phenopacket.store:SCN2A.PMID_33731876_fam301 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ae2829a9-b2d8-4eb0-aefd-9e6cd34fb452 phenopacket.store:SCN2A.PMID_33731876_fam301 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:67818ff7-8fc2-4eac-b6e3-2bd20ad9cc92 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_phenotype HP:0011292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9313c6a-a91a-498b-a12d-48c71817a291 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:880797b4-d80d-458e-b5ae-33aba33b1bb4 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f974b611-e135-4956-9502-aeb399b87f73 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0dc70927-d86e-4659-9070-5294e9eb9e07 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:de75ed7f-fdd7-4796-b37d-0d2f7ea72dc7 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c68cb674-2bd6-4e2b-8a2b-5a8a20f3260c phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a703ccef-9ef9-4cc6-8f0f-4d73e1318f8e phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:537ccbf8-c09f-4d54-a740-3456e420f3fd phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b5061d9-1479-4dd8-9dc5-88df2bfad22f phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:69c05de0-6174-4164-a723-5ce569c7dc70 phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2b629c2-fdd6-4bf8-b003-23d7acbb08f9 phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4861b9b2-4366-4e83-a93f-df36b0fdb5bb phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50307e28-6aa6-4587-9867-724da596dfd8 phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2b691535-d00f-4fa6-bd1d-2e454397667e phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0000725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62e10630-12ab-49e3-bd82-e153a60c4a7f phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:892a7e60-20f3-41bc-bc71-5a73bd50312f phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d69104b5-a504-49e2-b381-8e2bca565eca phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a58d740b-9a20-4ba0-9168-9d8697b0ea06 phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:578cf5dc-402b-4e0b-a776-553740ca6052 phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0f6d8646-ffa7-4632-a272-316bd2089086 phenopacket.store:SCN2A.PMID_33731876_fam384 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e51b46a8-e76c-498e-b01e-b9da4d5e88c7 phenopacket.store:SCN2A.PMID_33731876_fam384 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f5361009-2e06-483a-9fcc-040ee6c3461c phenopacket.store:SCN2A.PMID_33731876_fam384 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9a579770-5778-4fa0-ba2c-1bf0b4e52cdb phenopacket.store:SCN2A.PMID_33731876_fam384 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f615c207-a652-428e-8fed-4019d7429969 phenopacket.store:SCN2A.PMID_33731876_fam203 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8e0cff82-b609-41de-8674-bf772cc73687 phenopacket.store:SCN2A.PMID_33731876_fam203 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:41062514-9cd6-4006-83a3-5f291e9548e7 phenopacket.store:SCN2A.PMID_33731876_fam203 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:385f04d3-1837-4a64-b7b6-ab939646c370 phenopacket.store:SCN2A.PMID_33731876_fam203 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d3ec455d-c51e-4e2d-811b-3ad32ce0d26b phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:750ebc09-41fa-41b8-a32d-034a4eb2e3c1 phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50bc2b98-4fa5-480c-a2c8-bfcb735be89c phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9bf3e12-d07a-4c4d-a318-e200a1735edb phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f81f5adf-2791-4162-aeb2-4cae6f635821 phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b5b81e1c-5be9-4530-acbe-7ef806e372ec phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f7553ba1-3c14-4941-8a80-ffefa6a441c5 phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a73aa6ca-4f0e-4e95-a79d-cddc4ce03a5a phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a398a5fd-24c4-4f6b-bdec-879e3e393acd phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6e21f897-605f-4c21-8662-d7faf0487191 phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e42aed72-3eb3-4618-a614-e70bac58dfdc phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40434b03-7e41-4a41-9097-a20f09962cb8 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2112a028-2d10-4bc1-baf3-b18d56b818c7 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ad6464ba-c795-413b-898f-968c7894ed5a phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ed424267-12ad-44b0-acb1-35587cf42af2 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:557615ce-9fc9-47de-be9a-8e8870b668ae phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b23e91cf-6ddd-4895-8064-99aa7553bb35 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03f034dc-f56e-4f38-8a99-486dd06770f9 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:61345c98-bcb2-4bbb-9632-e3fb970acb06 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9dd9b767-83f9-4f9e-9dba-8faa9a444d39 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_phenotype HP:0010553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8dcb4659-d438-43a2-b1e7-11c536f0ef22 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:95d1da83-d132-452c-a7df-29bf706fcda1 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:20be31ec-c4b4-4758-b8af-f81df6cb6391 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:806c114a-c3a7-4226-8c58-95025828ebbf phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:055ce625-5180-4fdf-bd7b-315fd1e49e26 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:414b90e6-eed8-4f99-8845-036951d7dab9 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a307a8a-5358-4ecd-ac7b-f94269c9c77d phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:98ef551c-a18e-4636-9a75-322bf6ae6339 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a68672e7-fd29-468a-b6ef-8cd604972435 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b701567f-096f-4a80-8840-2f8ab0ca9d53 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8c45807-800a-4f98-a14c-89a2bc20c464 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:57de5590-aeb9-47f9-b44f-6fd32f734364 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:25903c97-7894-46ee-a88d-85358a14a9e0 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a9260e3a-ffdf-44cb-b1ac-6fa5ed5dbbda phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3bf71d2b-92d8-40e2-9c9e-4fca2fde2d19 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c79f701-4f6f-4747-a171-f33c3b0c6dc1 phenopacket.store:SCN2A.PMID_33731876_fam86 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:273d4ec3-b8a7-4f36-b7ce-7ec0bca59abb phenopacket.store:SCN2A.PMID_33731876_fam86 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5eea89ef-2d6b-4f2b-846d-fb9596e458b0 phenopacket.store:SCN2A.PMID_33731876_fam86 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f92ddab2-99ef-4c8e-b074-3fcac46d47e8 phenopacket.store:SCN2A.PMID_33731876_fam86 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8851f035-685b-4133-9660-7e25ba3b3e51 phenopacket.store:SCN2A.PMID_33731876_fam86 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b6fbf2ad-faa1-4489-a848-cc00cda9f828 phenopacket.store:SCN2A.PMID_33731876_fam373 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c7ff9a8-d611-448f-8372-d831a2c3163c phenopacket.store:SCN2A.PMID_33731876_fam373 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6afc269d-0fdd-422d-9ae3-cc1579c3fc86 phenopacket.store:SCN2A.PMID_33731876_fam373 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:30244b24-0608-4f0d-b07b-58df2fe0ace3 phenopacket.store:SCN2A.PMID_33731876_fam373 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0abd02a7-7594-49d3-aa0c-73a853f517cf phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d1f6c92d-7ab7-4a8c-8251-df944dbd711d phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7873f4ad-a8c9-4697-8f1f-4435db794034 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:19cc008c-f245-492e-a024-44632a525dae phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6c4aa1c9-a34a-4770-9a27-3749315a9660 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:15f2e384-99e3-41cd-a1ba-befe2ce21554 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a48db51f-d08c-4b4a-8c4b-0cc7bf65b101 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1fc04cdc-6f7e-4146-87d2-ffd2ca263141 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a064e48-78eb-4c67-8585-cbae9d11eb9a phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:048b1ca2-2327-4af6-8e53-3266f3d1eca0 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd9defe4-900f-4e36-94b5-556212f83c25 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:163eb044-b861-46f5-a15d-e07272137e7a phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5f7d7997-e7c0-4bfe-b909-54cfa54fe12c phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:15fbd858-2240-4cf4-8444-fca0bc3415b3 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5f81abb-a748-4ad0-8d5d-d15d6a53133b phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91f90b62-445a-4e96-bd7b-9076d3af0f14 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d394b2d3-5a35-4951-89e2-48b8a50691b4 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:aa2a3647-3d5f-4484-bc54-dc820231b6ee phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c1f71763-05bd-41c3-b051-6d6dc627b235 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b950994a-3343-40ec-bf5e-420c16d8ccfc phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0002871 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ae609fc3-49c6-41f0-aa1b-4a12a42c65aa phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:086f1d50-aa82-4853-9122-f77e0a34f90e phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b6f0135f-7d5f-4829-8c48-89abc2adeb05 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:74d74037-4f45-44fc-9c65-e02f552d6d51 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d04bf5eb-6472-48ed-96a4-82b10436495d phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f582ae6e-1efe-4d09-961a-724e8dd5934b phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3195b487-4769-4501-8924-b858b2ea8409 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2005bfa3-2e88-413c-81f9-c3240437c78a phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da86c004-2f6e-4d56-85d1-dd93a83c619b phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d13c8821-b5f7-4df8-a10a-703df752632e phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8f5839f-11b1-4be8-9381-707cdac90d86 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eea0f5ff-9c1a-43f7-aaed-b3bcb55a6472 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:defd192a-3a3c-4993-9024-717d3d52cca5 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f6ce438a-f798-4b22-9f55-753ee46e2c8d phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:de234c05-f24c-4ffe-b17c-4c1707d7b298 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7e28d3f9-daf6-4561-9ae0-ba3e22aea6e5 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6049c554-c6bb-4330-b28f-defa02182b23 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:429c333d-326e-45ec-a1f5-bd517f384ab5 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de6e64e6-f89c-4b5d-86d6-b1813714857c phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:574ce667-4773-4376-b708-d154f50b8ea9 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:35054b10-cf41-4b02-ad11-2e8905ee4ca0 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1da36ebf-dd1c-42fd-986b-9af6627f8163 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:02d39495-dc7b-45d5-b195-4b270c92e39d phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:db860cf2-5172-4166-be67-e39d34d2d5f5 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7a33622b-dcf2-4e5f-aa7f-eba34af15235 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16563dcf-b765-4a03-bdda-5f903daf3312 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a656e188-9f61-42a6-8ab8-82bac376a903 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3c1a0464-f348-4e83-acab-f2f3857ac344 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb8c36be-ae72-4d3b-bd6a-9b35dbb75d93 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2c0404e5-4d5e-438b-99d5-399bd3caf700 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4c91358c-32a8-4a5e-a338-4d8dd14b619d phenopacket.store:SCN2A.PMID_33731876_fam169 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba021e72-f6fd-471b-9230-e7be1156e202 phenopacket.store:SCN2A.PMID_33731876_fam169 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f50a433f-72eb-4674-931c-4330584f53e1 phenopacket.store:SCN2A.PMID_33731876_fam169 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c7d8a64d-9545-4265-9dda-b5686d821a3c phenopacket.store:SCN2A.PMID_33731876_fam169 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:358ad643-edf3-47fa-8ea4-b37a577ffa0b phenopacket.store:SCN2A.PMID_33731876_fam169 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9986078f-bbde-4851-a2ce-98bb0bee2bca phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:31917267-0b5d-4896-b509-1650de262029 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67c6a9ef-2982-4a0e-adbd-d2ad6e4a9266 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf8b1a87-7093-4487-baf6-abd7c5a7e863 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f034b870-a694-4387-b0e5-74da7e475cb9 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f16c624-7e69-41a6-9693-4d44081c8601 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:86dda8e7-5368-4ad8-ba46-188a57e2d8e4 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:293c55e9-eec7-4baf-bf85-8f8b642b913a phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0030215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a0471eb-6ead-4a04-9b30-25ed6d98c8ec phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8d352f72-f3c6-4ef4-8a0b-68b6783e584e phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0009747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fa5dc2a-3474-4055-804c-94a1dc2ba91e phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d2c029e-9f96-44db-8f8d-f84470fe32b6 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c8c26f6-7ac3-45c5-b87d-f575fb5bb9d6 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e240fab5-f167-418f-a053-9e6ef58b61f7 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0008094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1bfe959d-e514-4db0-9d42-3dc289df50f2 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0010794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d49faba-6d58-4641-bdab-5718c62e7d8d phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d55058a4-2ad5-4e29-aac3-385983156ebf phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0ae30bcf-fd86-4046-8942-73b021cb2c71 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a877288e-9246-461b-a019-d3f4d737cf40 phenopacket.store:SCN2A.PMID_33731876_fam383 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b8eaa6fc-b339-4a2c-ace1-7f354f4a64bd phenopacket.store:SCN2A.PMID_33731876_fam383 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da2d171f-57c2-415d-967e-87844ef8bc58 phenopacket.store:SCN2A.PMID_33731876_fam383 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6903972c-7e4b-4d71-a825-84d3c1769a98 phenopacket.store:SCN2A.PMID_33731876_fam383 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7939d719-dfca-4d1b-bf67-89c8ada20b42 phenopacket.store:SCN2A.PMID_33731876_fam206 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d471f06-baa6-4d98-b186-8ca41d78d7d0 phenopacket.store:SCN2A.PMID_33731876_fam206 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6edd9967-a158-4a5f-aa5c-d0db421b3d09 phenopacket.store:SCN2A.PMID_33731876_fam206 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d3e11524-23bd-4fa7-af71-68323115091c phenopacket.store:SCN2A.PMID_33731876_fam206 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e0f79375-187c-4e3d-850d-04a6f7219552 phenopacket.store:SCN2A.PMID_33731876_fam144 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:49d9308d-4c08-40f2-ab4f-ecdb364c6c9b phenopacket.store:SCN2A.PMID_33731876_fam144 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c2157d24-8eee-4d82-98c8-b602dc221e8e phenopacket.store:SCN2A.PMID_33731876_fam144 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8deb129d-ccaa-44b6-a5ec-e50633559750 phenopacket.store:SCN2A.PMID_33731876_fam144 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:db8a425a-f4ca-4e02-810f-992a982dafbd phenopacket.store:SCN2A.PMID_33731876_fam202 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a3f94c3-56ad-4888-91d5-9c79ffa3d4c5 phenopacket.store:SCN2A.PMID_33731876_fam202 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ceab3714-1a07-426e-bc67-26fc4ddf7bbc phenopacket.store:SCN2A.PMID_33731876_fam202 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0104d8d9-eb90-4538-82bb-c939e3006a72 phenopacket.store:SCN2A.PMID_33731876_fam202 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d1f3af8f-76fa-4f5b-9e51-27e0c077fff9 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:75f766c3-8575-4d28-acea-a322a9e2a6a9 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:19612f3f-dab3-41a0-a51c-d23253007630 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ad74df8e-ad28-44ca-946e-989ab064fdb7 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f083ac13-0f47-4c63-8b34-ef406f4312a6 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:80f8edf7-90b5-4afa-adfa-556924adaf68 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7fdcf1c-6c2c-4d71-88f7-7790fdc57a70 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e8b27f11-4fb8-4ea3-a9f4-b72219fed15f phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f850b985-e2a4-4dc6-8b53-39f2e496c032 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0002301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:df5f349f-e7b7-4b16-bd92-c68b56f4e666 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4f51a8b6-9ccc-429e-a219-ffaa7d9f8a34 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2e7ace8-265a-443d-92cb-af9b1e2cff91 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:77343350-1adc-43be-ae83-0db09a1b5683 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a70d363-634f-4d91-9808-06b71c39f207 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6866ec32-9991-4c1f-8b45-369639d23714 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8e0f6d6c-3070-48f3-bd85-941c5340d5af phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1ddc58ae-a7cc-4ce7-bb4f-34e1301a0708 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:18bd2d6a-3117-4027-b63d-1574b370821b phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d2a4abe3-aed1-4b4c-9158-f602886dfaa5 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ff9632d7-466a-4265-868a-4352f022f16e phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c827058e-dcb0-4ff9-8518-e83eb09ce079 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c18e7129-2125-4370-a8e3-d19539e4cd13 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b3ee355d-caa4-45a5-83bb-3c17c53b6a87 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44abb329-2c62-4ca4-8ac4-288e1a20f7a8 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c3e94b0b-b7a1-4884-943a-58fe5d1ecd07 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7305ada2-52fd-49fa-aea1-ae6f956865b2 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a103408f-6211-4144-817e-b4afdcbbcfe4 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f4f55b3b-7c41-45c7-b0b5-b1a7a5e5bbf5 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bc794afa-169a-427c-9655-9d5311a875f4 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2e21231a-21a6-4a4f-a3e4-5f6c841e00cb phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:07072e95-b474-49f2-bfa1-96bb918cd629 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7df50c7-dd15-43df-84b1-3df7533ddff1 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03eb7141-9d4d-429d-a131-d3c74ed3b1b8 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:77d489de-ec7f-4694-ae39-163caa081313 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b22db23c-e274-453f-b935-cb731920ff12 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a241dcb-a6eb-4078-a0f1-f347ec4dd5f4 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:60140240-b0a4-47bc-86d6-b1499e22ba69 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3418678c-6b7e-485d-a171-7415377f4fa1 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7aaaa59-8c4a-41c5-a5a7-b3d4a47e3c5c phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f8d4c92-d7dd-4ea5-91f6-3d9256a7be12 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d2fd3ffc-ffe6-42f3-bb6a-089b21a7ea7f phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9daae740-2b2b-4f69-bfb4-e5709f47b9c3 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50d20dd0-3857-4d8c-a56a-7ea0d6346fc5 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8097cf61-f618-4e1e-a34b-c0954275cab6 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e36d2378-8461-41e0-b387-326c131705f6 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a0d4753-f1ea-4d03-8edf-73043bfb6833 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:002a8eb3-1d1b-45f7-aa90-88ab97d59dc3 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4766579d-7b29-402f-910f-79ef835834ec phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cee9d60f-2327-4549-9c89-662678aeb394 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cffa6161-b876-451b-87aa-dbebffc4b581 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ce96ac33-dc17-402e-91ae-0557ba486ea9 phenopacket.store:SCN2A.PMID_33731876_fam379 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a7691d2-2290-40c8-b50a-2162c13ef459 phenopacket.store:SCN2A.PMID_33731876_fam379 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bf68a1ca-8b25-453f-99c8-db52af277d68 phenopacket.store:SCN2A.PMID_33731876_fam379 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c3a9b10d-1f34-44ba-a678-664bd737f6f9 phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d3956ac-0c2d-40fa-9972-a250cfe8805a phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:def5e9d1-e134-45a6-979e-2da7b7e7b27b phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e024f7a9-ba7c-4424-9753-78664679a491 phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8350af44-6076-4b95-8b25-0b7073029d28 phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:44530ccd-5010-4653-ac6a-2c69856ebff9 phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7bfce1a7-518d-4481-bd04-bdb51d5c1e2a phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f644f9d2-719b-441b-b54a-32573d9bf40f phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dca2ede5-3614-4813-a33e-48299b1d76e6 phenopacket.store:SCN2A.PMID_33731876_fam226 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1e918b4d-6743-40e8-82a8-028a3ec74994 phenopacket.store:SCN2A.PMID_33731876_fam226 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:09051055-576a-463e-acda-84ddad88188f phenopacket.store:SCN2A.PMID_33731876_fam226 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1fc99d4e-75c7-49fd-bbdd-848e10827aa8 phenopacket.store:SCN2A.PMID_33731876_fam226 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c214f31-1fd6-453d-9014-a8c2ff940133 phenopacket.store:SCN2A.PMID_33731876_fam226 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c9b34529-04bf-4706-b608-667bcb1584df phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:66bf622a-0209-4693-8ec6-19613362db9d phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2caa2be6-522a-406d-a439-027fe997a58e phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4952f5c5-ce4b-4a59-bcb9-9ba081e42e6f phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91bf125b-183d-41b0-8004-b6f02b98c464 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5c5c9720-75b1-4b73-b7a3-bf6e0b06b3f9 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:45b26f43-f22c-4796-92ca-44cf6e87abb4 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eacc7bb5-a3c4-4c7b-8340-263d9f052082 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:24cf7fac-30f3-4f93-9c90-259f718983b9 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b9787713-0ca5-4f8b-8493-cfb86af5c3cd phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb5926c1-d233-4958-a578-0d0db82ed705 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a69ea6d3-2d10-47a8-a86a-54705b558dd4 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:90055f75-9c9c-40a7-99c6-65cdb5f2caa0 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7c70ab8e-1fd3-40ce-b489-956a7c6765f4 phenopacket.store:SCN2A.PMID_33731876_fam161 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a02f9c48-6db3-490a-87a1-9bea868b52b2 phenopacket.store:SCN2A.PMID_33731876_fam161 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:06412502-3cb9-44b0-b1ef-4525577fe792 phenopacket.store:SCN2A.PMID_33731876_fam161 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ca72cfb8-87d2-40dd-b095-4fc9f6945996 phenopacket.store:SCN2A.PMID_33731876_fam161 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d654a14a-1448-42df-bae9-7a2324da866f phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eff12e14-340e-4ad8-86d1-2e7a4b344be6 phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:76075750-9c8f-4d96-8f05-eeba18ded43b phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:03a34a3c-73c8-49b9-968d-0c8e7cd5a2fe phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:aecb25e7-39ce-4863-b80a-bcfe0836b829 phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ef3d7d6f-83fd-403b-85f9-34f005ac6ce4 phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:87b6314e-1dae-4434-82e3-9cee8836152d phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0012433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ce6aee4-9848-4944-816a-63c94f7aada8 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3997a84-b993-4f3d-81f8-c817961ce268 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d4d891d8-5d6a-4a67-9380-f35a629016ce phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8b9c789b-b7b4-4603-a0b6-95611cda6eba phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0011499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:90c2815e-faea-4308-9a85-06278de47718 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a3dda0f-4077-4ceb-823f-0249fedb4ff9 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b666b57-b534-490b-b63a-1ae4a1081510 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_phenotype HP:0002367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:149bd473-bf8c-4af9-8c7d-aae2d56fc4f9 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c698aad8-13fb-4667-a9e7-3686c8ab673b phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8d363421-94c1-448a-b0a6-d62e871b7a57 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:077a9759-daf1-42f7-9296-09080ab78023 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:93cce80e-4099-4669-9cec-99faf1688704 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cd63faea-c3a8-4f6f-a028-cd9f734df672 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:588c4741-351f-44d0-bfc2-f806bb4a91c6 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:bb015d45-313a-499c-b59c-af3c5fffca0d phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:94234b0e-44dc-47f9-916d-0da6c4fa75b4 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d90f4838-26d6-475e-a742-659146f5ede8 phenopacket.store:SCN2A.PMID_33731876_fam136 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7a66bd5c-70d1-4053-b9ba-140a18b352f3 phenopacket.store:SCN2A.PMID_33731876_fam136 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf22b04d-b1a5-4c62-a29c-22c7b1359ec7 phenopacket.store:SCN2A.PMID_33731876_fam136 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7632c6cc-5c37-480b-b089-bcc54af7b5f5 phenopacket.store:SCN2A.PMID_33731876_fam136 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a5826a26-8ac4-4e93-8650-ce2e6b9e318c phenopacket.store:SCN2A.PMID_33731876_fam136 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f4fc20f6-3733-418c-a7da-663921233535 phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d107b279-a0cb-464c-a26b-e0cf3fa61c6d phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5f78600b-e2f4-4c9b-bcf2-d2e706a1fdce phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2c812fe9-1292-408b-a493-7edd1a391278 phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:253bcaef-e1aa-430f-afa8-23990626d3a1 phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:771ff2d2-f9f0-469c-b2e6-1724676f55af phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9652165f-44f7-407c-9771-ce5acb525851 phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f4ff89d0-c3f9-4d6b-bdcf-f44d118394dd phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e48f8992-42b7-487f-b52e-c4f5cbdbc5e6 phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3c6ef52f-26eb-4580-ac09-3780583281ad phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0f215e4-f1e2-40a8-a927-72bb9a32cb4e phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44a7c826-c98a-4280-a3a3-1499b8498564 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:83f4f24d-95eb-4a19-9275-5567d2837270 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0578ed29-3baf-4a23-b619-9d926975eca7 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0025097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50d62f13-1ece-41f4-aeec-a442692426a9 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c545e931-74fa-4a0a-ade6-be264921b98a phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5b61e1a-1d37-415d-a0a0-d73463e79edc phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ae006c30-c965-4bca-a992-b4b8876b2d31 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e228615c-fd75-4665-a599-0bec471e13f4 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7786ff8b-e9aa-4b65-b6f1-aab0cb7c4b6a phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e4ccd31e-921e-494b-9120-acfe3faa51db phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:de158c66-1875-48d2-90a7-e335cc47647b phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:36d98b40-03cd-4553-a21f-e3d0abac4c53 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0012332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:31ea61e2-233b-4a7e-bbd7-44b0e830cb2a phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3aa1d1ea-8bcd-49fd-9a5e-f7d1ba91d6b8 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e083f5eb-12c9-418f-aef9-db474b520a09 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:96141891-a42b-4fb0-a093-f9bf078d920e phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8f43d1d5-140f-4df8-b137-63c91ec1468d phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a81a642-c9c7-46b4-8bc5-d02974d94df4 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7066fe8e-abb7-4851-8f05-38b3c579580e phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6bc81a93-a631-413f-a183-be756c9a5902 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c404583e-985e-420b-a377-b60cca488aad phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1343ab4f-53ac-43b1-9b09-1c15c6032024 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d7ec1a28-76b1-4474-a9a9-7f2099452e9c phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f56e99c6-96ed-4146-8104-f724df5eedb0 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:96f43d48-63f2-48ad-8559-98be02274a23 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b0cc1f5a-bc14-4a0b-b8ca-efb396d3cead phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c1c44088-3155-4113-98c6-e24bb39dfa48 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3fc20072-b176-4bc6-9cf3-b5763c3e8830 phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c007d7e1-a8df-4414-ac76-ced2e524bda4 phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3c59376e-a3fe-4a87-81c3-a5a7c630299b phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de5790b6-32ef-4a94-944c-1b48dea757d4 phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e64a82de-0830-4938-9484-7d7050370068 phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d218bcb4-0c58-4ab3-9b34-d07b43b6448a phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2d4032ac-2cad-4c77-9316-1d011bf1c144 phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f53654e3-4897-4ac7-8499-b0dc7b758f8c phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:12d59821-7fcd-4200-a645-76cbb973420f phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6289c905-d35a-4aa1-a73c-a5a4e8b70391 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:92600401-03eb-426f-bb31-b82471314da6 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:59fba693-20b8-4b81-89b9-310c7f24312a phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:12f458da-4fd6-4dd0-ba3e-6850f0083e35 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2966086f-96e0-4071-8a4d-781e873c3776 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34b345c0-9239-42a0-9076-5e48a8a6dc58 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03eb8770-9336-4726-af3e-fe516fc219ef phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5adad7e1-b5e7-44fc-89bf-cdbaafcd18de phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:70b26996-a238-462a-a98a-a9b4a8d1a721 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f78ec567-7d1e-4211-a18d-016abb25d57d phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b8bb1cde-90a9-4607-9a4e-dc8700bf6e28 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f2c6f95a-4ad0-471f-8705-da770777a732 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4cec5067-fe1a-41ea-9964-9ab550a3d522 phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d4d2377-9ef3-43f5-830b-57c18a9b74b2 phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ed44a00e-04ac-4643-ac4e-26ea77590aea phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:796efbaa-d8fc-4eb0-97d2-127e9aed2719 phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4aaa8c35-70a6-48a5-ae9a-7986e2975c82 phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f1247f23-94e8-4422-a361-19bbd0eccff8 phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:05037dfe-5855-4fd7-958b-86f944af560e phenopacket.store:SCN2A.PMID_33731876_fam227 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51084756-0dd4-4c21-becd-3b9ed25ccfbe phenopacket.store:SCN2A.PMID_33731876_fam227 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bfa79442-4c89-4cab-b777-1335f946e73f phenopacket.store:SCN2A.PMID_33731876_fam227 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7cc1795f-b4cc-436f-91ad-047c17d7a691 phenopacket.store:SCN2A.PMID_33731876_fam227 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0ae88ee8-4985-42b2-9b5c-90584b604c4a phenopacket.store:SCN2A.PMID_33731876_fam227 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6a838391-ccd8-404e-a82a-96ef8b92585c phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2e1aae70-d8e8-4006-8cb5-1695f09a64cc phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:034e376f-9b9e-43bc-bea6-1a9bdd803bb2 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af8c6f78-84f2-4a27-9503-feea530e1744 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7afc0366-1f0e-4d17-999c-48c109c695ba phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e5d8ec70-43a3-4b6e-94f6-07b72121e1d3 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f736bc30-decf-4e34-b799-59d0fa7cbfe5 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:08a35965-831d-439b-b361-1a7d3be3af9e phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fdc7a624-b559-49d1-9ced-c32d6d2a5c67 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a12456ba-07ac-45a4-a429-3dff0d34543f phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9c28aec5-6e17-4791-a210-afa4ef296736 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ad7c0634-1304-4fa1-97cb-289183344ec9 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:195a6ce1-c3ab-4c52-8422-8e6f874752bb phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2643879e-6737-4fb3-8859-7a0b198b85e8 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4d70f3bb-6b5b-4c70-b3bf-415b7e58259b phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e4dd16f6-5d69-49c2-bf74-58df449e059b phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:29be88df-2bfe-42a5-adca-614af3cb8033 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bcd1b90d-d983-47bd-aeee-95cf3deffd1b phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bc7f8a69-a3f0-4da7-85db-f33001d505c4 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3bc78bc7-cc56-42c0-917d-8b9f2a15f476 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:37f27efc-679c-4be6-9af7-239835fa2651 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5297f004-c163-41a5-a7fa-36600aad79d7 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a3c0a56-0dee-4d37-9887-358e6719d2c5 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a137f811-3450-469b-851b-dda3e5f60cf1 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e2946274-a7fe-4f42-9744-39824a57ed15 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:660003c0-713c-4e88-8691-37f9ecf1f36b phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1dcfe2c7-26e9-458e-a4d1-bc3b64247dd1 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e84403ac-c074-47ad-b939-6130260ca4ac phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2f605af4-a50e-4c4c-82c8-4b81e4b0e9a9 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:eba14957-80de-49ff-98af-4d3e7603a1db phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f92cdfa6-6b77-433e-a99b-a577fad24388 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1734a9e2-1f5b-4f66-a150-b6b1731da72c phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0002793 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0a1d159c-967b-4119-98c0-ea2495abd4a3 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f25dc490-25e9-4989-a131-ecb95a53b88a phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc868b63-555e-4419-bd4f-25d2f9007450 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dd94ca17-2ba3-4be6-9396-b14a161cc00d phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:45b5c679-106c-4b48-becb-e5995328fcb2 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0012748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ff9d946f-f371-4db6-8603-2bdc0d7ed7b4 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b27fa78d-3ee2-4a31-8cbe-fd8ca0603b33 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9b48bfeb-3ed4-4f44-9320-bb7461642885 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f14295c1-088e-427d-8c85-b3602edbd95a phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b4352cf4-4cc0-4b7c-a5ad-d94220a383d2 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d9d2606e-057f-4524-9840-1ccc24e57e39 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c0acc6bf-48f2-4f80-9389-1a86daec84ee phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3631cb7-2a7b-4f7b-bbf4-4c6f018e146c phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a07f316e-9eed-4d87-b256-f930aca7d1a2 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:006ba743-9bc9-4db6-8821-5777e48a6298 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2fc6dddf-3044-493b-88d6-31ce7851f555 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:03a0442d-1c99-4395-8a42-1995fe9b56a8 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cb7815ed-a5e2-4644-bcc5-00969bac7b94 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3534b738-7a9a-427e-9093-e98efc1d0a29 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e8a01f5a-b614-4fad-85cb-f2042adf3109 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:400cc123-207e-4857-b889-2da8cb3a222b phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a01956d-415e-4dd6-a405-fb3029fcda0b phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1546fc0a-a4ae-42e1-9a65-8fbd9a695a5b phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b984cc95-f07a-4815-a48e-1f6b2a8c3d03 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:acefa022-6ecc-46bd-92df-666922114cf2 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a66bc11e-3019-4572-b050-4acfe79c8d46 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c743872b-8d9f-4785-85bf-55a7764e690c phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:69da3b74-7719-46c6-85c1-2bff6eec4671 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ac459de8-09d1-4da4-9ba0-1ca4961eec10 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:29998368-a19d-46aa-9f47-6f226fab9809 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f9e0b541-c572-4b79-bd8d-62bff06220a1 phenopacket.store:SCN2A.PMID_33731876_fam147 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f040cf8f-d108-4e58-9413-442036e17d2e phenopacket.store:SCN2A.PMID_33731876_fam147 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:869b39d6-e634-4111-a247-9ad6d9ec0af6 phenopacket.store:SCN2A.PMID_33731876_fam147 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:da9b248d-154b-4c16-856d-60e396315cc2 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:06e32052-dcfa-46fd-9430-21049ffe0977 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:80be6ab0-a97f-41eb-a782-f8ff0e0f038a phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21506b55-d665-45dc-b5df-2e6eb73a56fc phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34775a7e-cef1-4901-a482-8358c5242fb9 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:55ae217a-7d1a-47bd-81ea-756e168ac758 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f8b51521-5ebe-4919-bc8b-237a32506de0 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f63e5112-6d39-4ff6-be06-8fe2ad02a58b phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:56e080d7-069a-46b6-a7c2-eca95c3759d0 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0bf22798-fc7a-4efe-bedb-b4f5d75fc9a4 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4c3d43e5-4de0-4fc2-8295-129d60b07162 phenopacket.store:SCN2A.PMID_33731876_fam179 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7eaa81d3-924b-4899-9554-984a9c62c86b phenopacket.store:SCN2A.PMID_33731876_fam179 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:84e7069d-614d-4113-93b5-3248995f6406 phenopacket.store:SCN2A.PMID_33731876_fam179 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:95b2fe76-1862-4594-bab7-b866bd59c168 phenopacket.store:SCN2A.PMID_33731876_fam179 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d2fd4e09-afc7-4465-9521-669309808e5b phenopacket.store:SCN2A.PMID_33731876_fam179 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:934eb4f1-31a6-4674-be5f-48aa2d9519a8 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4a54ca07-ecce-45da-b457-24fe1eaacf1f phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:07385791-8026-46bc-9b1e-89d66025e25d phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3bf5f63b-64e1-4e82-ac84-d8c6a3b00e4c phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9682d67f-99e4-48b1-983e-32f24afcff72 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a4f5e6f3-0625-4429-a607-a64b5dd96c2f phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1535078b-9986-4f43-a00e-d427e4336168 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9ed73cc-a3b8-438e-9a6a-9b997a4eedf5 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fbefa67a-81e6-4e96-8725-f4f6fe357530 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6661e5d8-dd76-46a3-8e44-79dae03f6e48 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:67a8e651-979f-465b-91ee-d47803dca350 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f6c95f8a-4bae-4200-8d05-ae6366f67522 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d896ca80-5766-45ea-9da7-ded248cfe135 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a6898ac1-14be-44ba-b709-ca7f959a190c phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5f16eb4-bc25-4045-a5c6-d7a67e453ae7 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:668e3779-21c0-41cc-ade9-7617e5eb4ac7 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7dc85a32-9951-4210-a01b-9fd791f90f16 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:46f84e09-d738-457d-bd04-c5be81108176 phenopacket.store:SCN2A.PMID_33731876_fam385 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a3122d1d-978e-4fd1-86e1-85a3518c917e phenopacket.store:SCN2A.PMID_33731876_fam385 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:36b047df-ebdf-48c5-8acd-c634c6e2d11b phenopacket.store:SCN2A.PMID_33731876_fam385 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2b343125-cabb-4635-bc46-f70f1b459942 phenopacket.store:SCN2A.PMID_33731876_fam385 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ca39fed4-a038-4bf8-a054-7181e41d3fc1 phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7760b5c6-bebe-4087-8230-15f5a5660030 phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3f913c5-489c-4d37-85d1-c5abc80cc88b phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ade586bd-9551-4b9b-acde-3fa4d27ab5bb phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:46b240b8-1287-418c-8ad8-a3ea2ffb7b66 phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8d6547d-9447-4f9b-a06d-0992186c54d6 phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:53560d33-2795-48af-bf39-89f4c118ebcd phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:66ab19fd-83e5-4166-a101-5f049326fd42 phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:630a8e70-814c-4e00-86d1-990ab15418fb phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ace3d795-2235-4022-960d-adfa74bb2d6b phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fe3872a4-836e-4526-93f4-bd6e9579b25d phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8e63218-e139-4c8f-b2e0-a3500458128a phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:adf47297-aaf1-41b4-abaf-684ed26f641d phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9a45414-cd60-4cce-87e2-7046aeeaaac9 phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea27aa9f-4261-4b2d-a4e4-8cdb0d893d5d phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f81e16bb-09b2-409f-a83f-a322f513f0d1 phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8c085159-8fce-4c2e-ae90-f0b76504cbd7 phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:692bf0dd-a750-419a-8e9e-351eea6517da phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e106ecd0-9718-40ca-94b4-c5fc51b84a5b phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d8afea10-98bf-4094-8e31-040ec3edea5f phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:480b2483-6353-450b-bd65-1485ad269b24 phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:acd60e2b-6584-44da-af8a-a9b131277a35 phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:743c1252-75ab-4609-b2d4-791295f6c5be phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8635f39e-86c2-4355-a17a-35591242d8c5 phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c46e4508-7020-4451-9543-95307fa5a07c phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a16b877-4fee-4f75-8d55-5762806d87f9 phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:90ae6e9b-fc49-4d77-81bb-08a7171dd66d phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d1c6e1a3-aaef-4eaf-a7f6-d988435a5a1a phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:082be4f9-03ea-4553-b329-f015d3ff9864 phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a441bbe-6c67-4df2-8539-970c83611ee6 phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6475753a-cf69-43a1-805f-0b3ede5b573f phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f5b0cec4-6194-46c9-b8ca-e7a50488b1ad phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d58dcfbe-1c88-49b4-bc39-e2fef0cac958 phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16a4f6b2-df6f-42ea-ad13-49d0701850fc phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c40489ba-cf94-46df-bbef-2044b0d35af5 phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a4114d8f-65b7-4409-a7bf-7f0233cf1676 phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fa68452d-4273-4119-b72b-d1dc214d5203 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:079315fb-db68-4b32-aaeb-0dffa80f405a phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:78772735-352c-40a1-a38f-282ba56d8367 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9e7a1fd-eb4d-41a5-bff4-d800050db251 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b08da488-55e2-4380-a3dc-deabff09ceb9 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6dbf3a8d-7ffd-416c-a1d1-b5fa5106009e phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5457688e-04f7-4cad-aebb-8277a05ed1b3 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8224d7ea-bdb3-48f1-a44e-e2237b4e7a06 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:657b1048-c485-4dbe-a68e-d7d7579655e7 phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64e48206-99e3-4ada-a6a7-e934e8cde81f phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:97d1d571-cdb8-4d63-8a3a-6778def4c735 phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:16c9464a-47ea-4dd0-a30f-778bb4c4087d phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0ba9ef1b-6321-47bc-a768-c9fb5fab9ec3 phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fb755724-021c-4da2-940d-2036222c9fdd phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b9764e0e-3f7b-492a-afc7-da27bd00e5dc phenopacket.store:SCN2A.PMID_33731876_fam145 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:47f56b32-1f30-442d-94e8-7bdc2d4c73c8 phenopacket.store:SCN2A.PMID_33731876_fam145 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a58b5736-8161-4632-b62b-8e60272d595a phenopacket.store:SCN2A.PMID_33731876_fam145 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:eeb9b3e0-75dc-4edd-8eba-c9825830c026 phenopacket.store:SCN2A.PMID_33731876_fam145 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f6e39f11-9452-4a82-bdf8-65f8bbfc0fc1 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c38a17c0-0c90-4cb8-b999-8fd92ebdae61 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a3242b3c-1216-4e01-9a07-878d5945b5b3 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a83a18fa-63bb-42c7-b481-079f37651803 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a57e06b-6217-467d-bd9b-8c6af969470a phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:946d0fd4-af9f-4b05-bac6-233fb4708741 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a1848364-1624-4336-bbef-87c69169f6f9 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:edee17ee-cc79-42cf-928f-96e0f7d54a6d phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0654bc20-53b3-4708-8664-537f899ebcba phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fdbe3c04-db3a-4a03-94fb-666854fbb811 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d3cc5752-f2eb-415c-a5d4-1ccfd9e02c6d phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8aae8342-b00e-49eb-93ac-0dbfca673623 phenopacket.store:SCN2A.PMID_33731876_fam124 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc176670-dafe-4664-aa4c-7b1300ee4a05 phenopacket.store:SCN2A.PMID_33731876_fam124 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6bfc5206-00f2-4a27-b8ab-7cf91e491afc phenopacket.store:SCN2A.PMID_33731876_fam124 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ab987dec-366e-4a0e-badd-7298faba378c phenopacket.store:SCN2A.PMID_33731876_fam124 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:35d621e7-ab6c-4dfa-8c20-d2247ccab974 phenopacket.store:SCN2A.PMID_33731876_fam279 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d0287453-003a-4b65-b7a8-c7556506fbcc phenopacket.store:SCN2A.PMID_33731876_fam279 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2c215283-8799-4a42-a8b7-dee943eb538c phenopacket.store:SCN2A.PMID_33731876_fam279 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:68051798-6373-4ecb-b910-0ad275103dff phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8bfa8383-9fbb-4f30-872e-547b31a37f56 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec0542e4-af4e-4267-b32e-8237b2eca299 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4f72fec2-df03-4a96-81c2-bd6f365c1643 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a594cfaf-e0ff-4b79-b77b-efe1e97fdb27 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cbfda120-9967-42c7-aa3e-6305b818d05d phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b22fd574-00d0-40b6-bccb-c1d79f5e7f3f phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:94b2ee18-bdc1-4034-9a4b-117b3f155c82 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a421656b-9fec-451f-965d-c511a3e30a25 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc8eda31-c7cc-4ca2-8404-f0f6e9b923ff phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8571d8c5-0182-452f-96a9-55bd554d45bc phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c2e941fb-289d-4a37-8333-88558780d244 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5ec9e2c1-1928-4c65-a89a-1ddf7a0afe6c phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:43cc4709-f59e-4c9d-b0e1-44218fc40bc4 phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:23aa4dd2-ce89-491e-a8fe-40f790db1c7a phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c6f3535-d5e2-4132-89a3-c06d288b094f phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8704620-ba8b-4ccc-9260-92fab3598a42 phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9daaa2c-8d7b-4c86-90b3-cb880cbb30f0 phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba5f93b3-2137-4b9c-a75a-c8594d02cf7a phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c556fec5-95d4-4436-8df9-d6ae18b237d5 phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:82124611-4933-4f68-8423-dd37396fc01d phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7a26ebad-b011-49e6-beac-7237f6374ada phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1932f99d-25f3-4fce-b387-0348c54cd94d phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d7ea479-f6d0-43f6-9003-aea7400b89b5 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a91881c0-188c-4345-86b5-491a8b8b58a1 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:efcc4fd6-aa6d-49c4-a8ab-aab62f02027e phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:318c3018-279e-4cba-aca7-f3177166f654 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6caf714a-cf4b-460c-b08c-e10b52a0c730 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c5eb66c0-e7f7-4034-be62-fafa742a597e phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5323cdaf-760d-4fbd-a57b-9df3246b5663 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8bfd5451-fcad-4e7b-805a-d918d1df67e0 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ec0bdc3d-cb86-4048-ab3d-42e687c0535f phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb9c74f7-8be2-44a7-898f-bc888cff0a27 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:be1b71c9-7f75-44fe-816f-2ac2aac35f1f phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32d6aeae-ad42-43af-9db8-54bca3125941 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d94a4f29-6679-4b35-8cbd-525df8416e49 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:586585ae-c7e5-49f9-8db3-03a7be5ee209 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3e80e571-30a7-456c-9130-eaae0b963fa3 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7d9bd6e5-6c5b-443a-ab38-ee130955e787 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0fdd0fe7-fa14-4c84-86e0-97f782351423 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:198b20e8-5c7d-4595-b3e4-608657d5ddcf phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:74dfe5d2-10b5-46a8-92dd-fc4c84b104fd phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0002363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0f3ce05-c71d-4da0-ad12-355b12bb937f phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0002134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8d705f5e-041a-4871-8c53-f36bdc4606f1 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d4927f18-f99e-4db8-a7d0-0bc258b26fba phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea3f3f9e-39ca-436b-8e8d-1f3da3e799d3 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:60f94f4a-63b2-420a-b9e3-7ccd34f77f11 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fdcad010-4efb-4c59-a162-566f27ee076c phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f0bb056-8274-49b7-a69b-5ce0eeda2b3f phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e284ad4d-3f0a-4ef0-98f3-17f95bd8e8ae phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d553b031-4e0a-4be2-b5a1-93d49772d1c5 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5cdbf869-49ff-465c-9aca-6ab876fae87a phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:177c9326-12bb-483f-b7cd-0589da68d1c4 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c7e1bbd-49a6-4379-9583-d6bb5b5b9506 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d04bf2e2-055f-4c2d-8ad4-1e632090b21b phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aa1af74f-450d-4018-9756-e9ed161e27f7 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_phenotype HP:0012017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8241a8d8-2db7-4edb-8643-282598a536fe phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bca20d63-0ddd-4330-93f9-b5d66d8580b0 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9ee8f62a-76eb-49c4-a101-2951ac23c818 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:004599ff-8ec9-412f-ab72-a24bc4e021e6 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5b3ba8c0-c555-477d-838d-a70ee321c254 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d4a5d060-cd0e-4e93-9adb-798f9cb82f03 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:65231540-fa3d-4a9f-91d8-09a265e12061 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6d499034-6a5b-40e3-92c4-18aa31b228c3 phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0cb11cc-edf1-46b8-8e9c-4ffcac01e411 phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8a038d38-cadb-40cf-9991-e55ad452e791 phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c44a2a94-12e2-4d56-b846-277f1d4a17eb phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03421398-77d8-4ea4-b225-4711b48f300f phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:eedea43d-dd1d-410b-914a-190e65ada80a phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c6a4af46-34ca-483f-904f-08dc44fbcefd phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8661d64d-7735-4928-82e4-f1165edca247 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d945d469-6050-499a-a679-bf72dc587a15 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:103dfb82-a8ab-443f-903c-26b9b4fd6923 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2069c17a-ada4-4d63-8aed-d09bb734ddac phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3bd39c39-87c1-4bca-9cb4-a475410ab299 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:491db740-27c6-4eee-bc52-b3f118f16eac phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:319d0ff8-34ca-43e4-a200-7f0f6b64579e phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ac7a5e79-369a-4037-96cf-7cd2faa2a1e6 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03b16c90-f938-4c4b-a653-7e63621976a5 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9c1258e4-be86-4933-ad37-1dd3e0d42df3 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b80e0668-73c7-47f1-8c51-68d432624ac1 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3250eb4f-c6a0-4ac6-9fda-5999563ecd22 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:20623656-29bc-4545-a265-474c302202e9 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:82024305-d8ae-4b6d-9e26-91cab9bb01f5 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a8c8797f-cfe8-460c-813c-0ad8c34f8c33 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e8c0b945-9ea1-4dea-92ef-aa1d21c9b32c phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5400743d-15f0-4214-a0de-fc7ef2fe1b31 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0011292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e30a6a23-70b4-46b2-8747-095891f0c611 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0011295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:43f2821e-6e41-44fb-88e4-bed2b00c33d5 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f2eec6c1-2c6a-440d-9976-3944ff6f840c phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:57007467-0f80-4854-9e41-ae08316070e0 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:beef981c-f1e4-406c-ab0f-d9056eda9dd4 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c6159abe-4746-4974-bbc3-2ccf4cd8e560 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:94f62d09-79b6-4416-b64a-77fea95f0a48 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:370c977b-7e8a-4901-b92d-c91ae7f0756b phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e8351085-4318-47f2-9203-c942d2cb85ec phenopacket.store:SCN2A.PMID_33731876_fam325 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34cc61c3-0fdf-45f5-8032-b4729d9c02d5 phenopacket.store:SCN2A.PMID_33731876_fam325 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:830049d8-0a55-475a-8e70-3b1cc57a22c4 phenopacket.store:SCN2A.PMID_33731876_fam325 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:766967eb-40ca-4e39-8692-ef322eb18834 phenopacket.store:SCN2A.PMID_33731876_fam325 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d4d57379-6eb7-4483-87db-df2c5c90cd37 phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a96fbfa-cff3-4eb8-8578-013b163f700b phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e312bb0f-24e3-48ca-9332-e35926effa37 phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a333faa-e5ac-45f8-95c4-a4a2862d84bc phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb3e5f0c-9c5a-43db-9c13-4eeafa8f9a1d phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8bd0db3-4a63-46a7-935c-743fadf3be4f phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3750276e-3362-49c0-9f7a-0c6893bee425 phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:490fd6dd-18ab-4684-8580-8435630e1948 phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e2071370-6653-4616-b6b4-8a997877d7cd phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0f742827-921d-48ee-a76a-e829fe157530 phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5cd98699-9a2d-4cf2-81c0-672743f59e2a phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ceed20b-131c-447c-a9c5-2fa91fb5f24e phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dad1bf40-f24a-44ab-9ae4-c4f957fd3db8 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:676e0e1d-9178-4edb-b0d3-7e8b31747593 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd2e4b54-fe82-497d-a563-708b3a31973b phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7dea587-dab0-4863-a434-7cdc162678d2 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7b15d1e-8f09-4645-a5a7-04276d7babbe phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc627111-9360-44ed-97d7-69f6be5d95d4 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f1768423-d0e1-4875-9416-a36f308ab710 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:00652e39-09da-4463-b6e3-31974ce1beee phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:48e502a1-9b61-4f03-a3f3-c834b623b6f7 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fed050c9-dfbe-43f1-b93b-c79f5db81ebd phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:01612d7c-eb20-4d4c-8fc7-eaf7e0a3eb21 phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6bc835f1-6043-462a-b374-06acff4de3b6 phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5cd5f0d3-401f-4bd0-835c-ce21de13670f phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d9809cb8-b106-4e82-a477-7a0ee0be9d25 phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cefdb0f5-b82f-4967-afc8-1c5832ff6352 phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8b11d318-8a30-4caa-ad4e-9bfebd69c572 phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ec91f49e-e2df-40ac-ad5e-46db1aa3e03c phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1ad0499c-3c69-43fc-83e6-f9fc22eb8c4e phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:884c330d-87ed-4950-a872-e9e72a84f992 phenopacket.store:SCN2A.PMID_33731876_fam125 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c231fc4f-1b35-493c-b7f6-c054df0e1590 phenopacket.store:SCN2A.PMID_33731876_fam125 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b94e6405-2daf-4236-8781-b12c02102905 phenopacket.store:SCN2A.PMID_33731876_fam125 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a9823c54-efa4-4b72-bd05-31f033c4aef7 phenopacket.store:SCN2A.PMID_33731876_fam125 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b9f9aa41-5e84-4289-8aca-89336f769edb phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7b375a0f-5cb5-48a1-9043-84b78c805395 phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f5a9d0e-8084-401d-8ca2-b99dc348e4b9 phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:738b073e-e274-4414-ad36-995afbbaf640 phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7144136-0ceb-462f-b249-903ceebf7736 phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4d1bb7e1-2e4a-45d7-aba0-08139ce0fc5e phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:390dac36-f43e-472f-88a7-b6bbf1167456 phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e36187a4-7bea-46d3-a769-75a3fba8719d phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9da1287c-d4c3-4bb5-b621-9d650cb9921a phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aa979d59-c3d1-4ca1-9d86-b8d6dec98408 phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:56061652-242e-41f0-b20f-770e4f5431e3 phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c1045e32-239e-4fb1-85d4-7b45fa1bdf20 phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa7f9231-0292-44a6-8e28-4c7af6f16c3c phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ccd84e0b-d8e4-4edb-aa63-e659a8269e0b phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:30dbd6db-c6b0-4fb0-adde-ccc7a7ad1bae phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4d490e21-c876-493c-845b-687414c93471 phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:10201cff-e65a-4431-b08e-2840c234b1bc phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ccffe560-9b14-4ef0-b53d-13ae2a2f5d40 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2fd9cf0a-755b-4bc0-bdf0-152a4fec07d9 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f07b875-a628-4cdf-b779-fc49520cbb65 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8042c266-eba2-4fa8-8145-249bef0a3135 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9c1a9dd-4131-4a73-a034-7daf1837e2c4 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44393870-cf2b-443e-87b3-2da192dd2bf9 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25ab4618-18c9-4adf-bd49-ade80027124b phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:31dc40db-cc8d-467f-9950-3bd97abd88a3 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2f029ae6-9460-4b8c-ad68-fed3841503c2 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:293652e7-75bd-4d0e-924b-721499b66b1c phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4a8066f4-92f0-47de-8d16-95c9fe132e22 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d0646b2-8271-420b-8ee8-91eb314601c7 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c63586b7-2707-4693-928b-462c83460b95 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8b3faf6b-efe8-4fec-b933-0cfb6f9bb1e1 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0008770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a50c329-d327-44b1-a28b-c7a9573eca20 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bcc88cf3-09b7-4c00-ab8c-0b1a127aeee2 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:29d5fcb3-5d51-4982-90e3-643995b8b951 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d4839f6d-261d-4feb-bfc3-898dd4a14a7d phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8244028e-a9a4-4bc1-80eb-3e290979cf8e phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:116da7eb-4e09-478d-ac2d-92830b29747b phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c3fb4bf-c2c9-43c7-afeb-5c60d5b6b1ae phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:38ab2507-297d-450c-8aa8-54a5dbf9a068 phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a727867f-1b0a-455c-8d97-ccc476935d6d phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:204f7f9e-5a66-4604-be7b-d0d42a1db7ca phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0012692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:afa6eb75-e3ac-4921-b758-d26269a7405d phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0190c1b6-2de3-4806-9f0d-44635815cc23 phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3ff2eca0-4abb-448c-a260-1e2c43a5dabf phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8fae4cad-0254-469e-a7db-eebc81b037dd phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf7388bb-2a66-4c67-9e51-16b4838b7ea7 phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:10995745-d3d9-4d96-9fe6-6da7fb937adb phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8b2bcd5-7f94-40b8-be95-6e608ad76eb6 phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ee6e6b6-27a6-46f6-ae52-790f452f3d64 phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9f46e32c-36c4-47a7-9845-085e0109b04e phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:955b5bcb-e0fd-408b-926f-f5225d08ae6b phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9793461f-ee24-4e3c-bcce-b8829b2e6b6c phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:db4f2167-79fa-4d35-b1c5-55a9297eb25b phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:19b8400f-4563-4bc7-9c4a-b180af136d70 phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71ce73d6-ca66-4494-9385-2d1024e34f16 phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec5f55dd-fed3-489b-bae1-7636cb0bec9d phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:904ef712-3de5-4d6f-9942-b884c9d58bd6 phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b27c9d98-f79c-4fc3-8862-c49ec84ddd42 phenopacket.store:SCN2A.PMID_33731876_fam204 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f6cc9581-8afd-4ecd-8dac-87b8bbb5b078 phenopacket.store:SCN2A.PMID_33731876_fam204 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:30b7058f-db35-4f94-ad74-3c0a08bec515 phenopacket.store:SCN2A.PMID_33731876_fam204 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5d033dde-0d5a-4c58-8a61-f85af64bfb89 phenopacket.store:SCN2A.PMID_33731876_fam204 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0a47fee5-06e0-4419-877e-c8b50ead3a31 phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5c855977-28bd-42c0-a814-65221b3ea5ba phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3011f8ed-763e-434a-99ac-1a061dee6c60 phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0911ecf8-aac6-474a-9ef0-db9a0d6cc895 phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9e437949-9b5b-41e1-8561-ac6d6452fdc3 phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32eb62b3-7b9e-4707-97bb-26a16b5073df phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:67fb8662-4d9e-462a-b48a-6f723d231bba phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:38a5057f-1141-47be-afa4-dd9863e430be phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8a16a7f7-88d9-4e2f-bd34-d94e707a72ed phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:has_phenotype HP:0007364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ca79425c-ee7f-4392-8b0b-21aab4b0e5d9 phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c2cd3f55-dbb8-4575-9e3c-e5a95481c845 phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:01bec434-ade4-42d8-a4a5-26e8b649a840 phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:49b03105-776a-48e9-851f-f3283c3b993f phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:99f3beaa-b6fd-4349-8b35-7e69e16913d5 phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7b7d61a3-3a12-45d3-b609-5acd7b3fac47 phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc8b05b4-db65-4201-ac33-65ca260f5bcd phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9c8919bc-43a8-4be4-800f-5aaf3df24df5 phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d2b1f663-d7d3-4f30-8a57-12cf4f271f45 phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d829131d-536e-4548-9658-b730fa8ca1af phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6b9a65fa-34b8-425e-83bc-b68253d09247 phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cfd46f43-804e-4988-ad2e-10175d6afc58 phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:411a54fb-3cd6-4c1e-8b20-b76571c92a3c phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:359ff236-e042-4fb8-a9e4-dcf335bcd2ef phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0d40af3d-3dc1-4548-a406-7a552b679942 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7a64e5f5-1b0a-4bf7-a154-8dc970e81cd8 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a52fe4c-a506-4e5b-a51c-6a0ed6c07181 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0232ea7e-eaae-4427-b791-c3c695b9e275 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ada4a65-c74d-4123-9fbc-6134d0817692 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:36590105-457c-455b-86d4-6ab407aa63bb phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2e1751ed-058a-4c75-ac3b-43f409f7547f phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:730e098b-77ae-43e6-a095-078a457ce8e1 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b3ad506d-3464-4f81-91c3-c2b2ae72122c phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ebb9d0d-28fe-40e6-ad96-8d662a9b26ee phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:93207444-a7c0-4737-b77b-72cac9d7040c phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4053be59-2985-47d3-986a-6568e8533fe3 phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4e684741-20c6-4da6-b5a1-fd2393068b7a phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b9e64cbc-ccc4-43f6-9116-30cdf083031f phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c081bd1b-a6fa-43ea-a0bb-68a8aa31270e phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:29e1286a-3eeb-4238-b054-d27b2b69e13a phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f8a3e7af-9195-475a-a0c6-ba3756424435 phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5d0fa256-05f6-451b-baeb-703171a80d4c phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6ec41ae8-e262-411d-91a3-032f92df0621 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6aeda80d-389f-417e-91e9-eaee0ea7bdc5 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6e93c173-bce7-4c4a-bed5-f2e27260e501 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd058059-bbe5-4f95-9049-205f4fb5ac80 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7fe22a14-92e9-438a-8103-074a10577487 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:86b2716a-3b3d-4630-8233-9fefa34cf711 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71cf451e-58b6-4615-8824-98c74c9e6e95 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af4166ab-90f6-4962-bcd9-29c77977056a phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:763d8b0d-1536-4c09-9d13-a40fb9fc0085 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd79dfeb-7cdb-4a30-ad37-1f037ce3c8cf phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:afd2c9b0-c435-4a93-981e-01b28734f9c0 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ef427efe-1b5b-4d62-86e5-64dc2f97fbb5 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:66d98b69-c6d8-4e18-a2a1-d2df07f5cfd4 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7e1c63e3-7d6f-42f1-8e5c-00e4a6e9500b phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c724c56b-6eed-40f5-a299-2f02c86257c7 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a6caff5c-f58b-4ef3-8c98-a05ce0019684 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:080c739a-7128-4acf-b780-743e0967b8a0 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7cfdf06-f266-488d-ae55-b65e003a00ae phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4b844558-6444-48ca-be62-69579751790b phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f8364dac-2da1-4c6e-9d0e-f80b627621b6 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:485abba0-8152-4d71-83ee-0a8868f38335 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cbcf920f-f9a3-48ea-86b4-6739fa0678ce phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:708cb7fb-280a-4b29-98f7-21b5c9039391 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:be6755ac-15b6-4450-a951-82c277f06070 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cafa93d3-3ece-48eb-8d11-5e03fd07a23d phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:31dbdeac-d4ac-45a9-a6b1-fb12aeec322d phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b77467d9-3176-4eae-9a28-8f7c065dc728 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:23c09ee6-6299-4f56-ab78-fde8ce2a7bd6 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:07e49bb1-003e-45bc-9ad1-25ba644f05f2 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f8e0d1b5-3464-49a7-813d-c79437dfbd52 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1f8b3781-f703-4d93-a337-4ebb2b721fb7 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1274362b-f340-45c0-822a-d33bc98e94fc phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d952e64c-48e7-4cdd-a944-d9e327f48cde phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0e08c14e-3097-45ec-8e04-d2e0766988b5 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9583bc74-3435-4456-8c00-f640fb2b7c42 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:52d8537b-3d5f-4715-99c8-b85e02d2e1ea phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:78f0d9a3-b48d-4261-96f9-56e7bc3ba90a phenopacket.store:SCN2A.PMID_33731876_fam299 biolink:has_phenotype HP:0012013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64fb4519-464c-4bbf-97c4-c02ebbccfe63 phenopacket.store:SCN2A.PMID_33731876_fam299 biolink:has_phenotype HP:0040328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:431f20d9-caef-4e6f-aebe-3499763ac617 phenopacket.store:SCN2A.PMID_33731876_fam299 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aade462f-b47b-4194-a70d-d36f7d3b0100 phenopacket.store:SCN2A.PMID_33731876_fam299 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:43e7a80e-44c8-49cc-9333-5f167599ee9f phenopacket.store:SCN2A.PMID_33731876_fam299 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:80deb025-4acf-4e3d-868c-a5fcc8d35241 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a27d53d4-510a-45b7-9b9d-72095e8fa477 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32f89a08-fd06-4ff4-a38e-a9c2e86f6cfb phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0011290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a506738e-0da3-4ce9-ad84-ac3a4c3ed799 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e2bbb423-ab41-4b60-a8fe-1ea8c4a4cae7 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a525dbbb-d5bd-43aa-aa73-44199fabc4ba phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:094ad091-1500-4b65-9167-0f84bcbfb4df phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9be7ebda-da73-4595-9927-471a3bf51ef2 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:14d06d7e-45be-4432-9774-e2d9aa300b14 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0d6deaf4-a49f-4752-b8f1-13620db67bec phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e7598d5e-4020-4f2e-990f-ab9062ef32bc phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:043c13d3-1349-4d1a-b127-6084211ff991 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ff6bc3d3-cb71-46ae-8f6d-d4e34396a355 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7525f8bd-1d45-40c0-83cb-72adfcb0fb8d phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0e16c408-8e3f-48ed-80c1-eee87191e777 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7cf27b85-6625-4f0a-a37b-124c41bc107f phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:27963cae-e36b-44c5-a1b2-6475bd0caa58 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6cfe3514-60dd-4d4e-a853-cf3471f5a2c5 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:30feeac5-ee5f-49e3-be50-3d4c30e65e42 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d1d7bd30-c0f9-41f9-bb20-17ab09047a07 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b3dfc6bc-4aa4-4d5d-a8d8-fb7f304bf2d3 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5674afe3-0022-4cf7-bf61-69a824583a66 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f585c7aa-5e3d-4fdb-a38f-fea312c168ae phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:29e16efe-02a8-4d32-89ce-376d9faf3dfb phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:834d4a22-1f01-4931-939d-09a6b8f6994d phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:22a180eb-18fd-44df-a329-9a634e620c5d phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9328ee8-3300-4b26-b0ea-f41cd769d702 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a3891bf8-ba59-4b8d-95e2-84170ca1c319 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba50d05e-5186-470c-b8a2-cffb9215434b phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fd7568b9-d891-4aed-b536-3157f7279181 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:59524f8d-9ccb-4026-9743-291ce37d9559 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:05a25cb6-029b-442b-a6e9-6eed13e3cd9b phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1b979caf-dd76-404c-9775-abb72834c715 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:640e5fe2-7d6a-445d-8589-e3dbee1fae56 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cb43afda-6d89-43b8-a43d-9fb9e8ada543 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4d6a6644-7a79-4b34-8aa7-af0d3f5d9e8d phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0052372-e443-4950-b8f9-4f867ac4789a phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d1f720a1-2411-458d-9913-dddac740d827 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf403d65-2ba7-4688-b2fc-2058ba604383 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f1555314-6903-4ff4-95e2-3f30cdb05208 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f08c3549-3ad8-4d39-9592-1f838c31a7e0 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2c9bc275-2c41-47dc-9aec-d0c8c3ff8324 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:33783295-0d71-438f-8ba0-3d73d2d1ba07 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a41346e1-3784-4c3f-bad3-781f9a89082d phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:520a0071-aee5-4ada-adbe-79e23eaf5d76 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:671d21ef-6644-46ea-8459-7d0a8ac3b358 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b2236a9a-a405-48e9-83ed-2ca786185197 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0eaeaf86-c86f-41ce-943f-042b50f1432b phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0001649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec053205-fca8-4eb3-8817-23c17b7516e9 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8ed7f36b-54bd-44e5-9c21-711fb9e8ba24 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:00c53cc8-d02c-45d0-a995-5f35f02b3087 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:460248d4-aad1-43e1-bb80-3acd24be6a43 phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8a06d203-a860-4cde-9345-0b00bc551a79 phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:266bdb1c-6914-45b3-9e7d-35ca13eaea72 phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9c997055-6e28-49f9-8676-380f1b8754b7 phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1c4304f8-d9c7-447a-8317-96430bea595b phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:81fa44a7-d3e9-420f-acbc-1cab5b1a41cd phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:014788ed-616c-4c31-b7e4-a06f4785b5bc phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fb7cf209-e881-4285-a078-68b2516ee822 phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e4619a13-141e-4938-9171-792c8426d7f5 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc75bf34-ce59-4f44-b676-99e25dbaa707 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e29bc809-6cec-4881-8ea6-e44250466bd8 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c26f02a7-6f3c-4577-b0f6-32e9ddac2153 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0011210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd8cabe4-c085-4f22-85e5-0f14c3d8d8e4 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:039cc283-fe98-4fe0-b9a2-73ca4c4a1c36 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:985be1be-5b79-4ec5-a950-b813f44661ed phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c5f5b63-c045-426c-9c84-8c7381b5e708 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f74ea72-43cb-43c5-a3c0-04d66eea1410 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:de043767-a178-4b5c-b31f-7ef6e28b52c5 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:27e1fb43-5196-4422-9271-3a6073ec8065 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c41c208-8121-48d7-ab68-d1be839b2028 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8bdcd2f3-f490-41be-9d36-2fcbca1c3a53 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7cbdeada-3d35-4d13-a05d-99dfe108f8d8 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd805ca2-b3fd-4669-a0b5-d9058a9fc403 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25045964-eaf8-4739-a211-7bdf4ae2063b phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a5b4fd4-e494-4e54-bfd1-6365acfce5e4 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5d61b4f-a98c-4181-b4c5-17532dfe5a14 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:708ba3f1-7653-487a-992f-b1c61315e931 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8388828e-b3b2-4413-8f7a-b81c72765c3d phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1b249f37-59b6-47ce-8edc-a89bc778aad0 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ec52e03a-bb8c-4bbc-ab59-b3f573d3c710 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3223286a-4df8-4fe1-bb86-dad0c17cc041 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:40547b37-14e7-4c19-a85b-7dacd0a9f4a5 phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:13b59b9a-4419-45d8-96f1-af835ead08ac phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8a916681-5065-4225-aa6d-9ce75a3f3a4a phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3477c006-7f1e-4ee8-8653-357ecc2e45c0 phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:829e744b-9a69-44d0-acb4-9241ea69c88a phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:666e2a0e-61fd-42e9-9105-0d86eb71b2a9 phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7f5dee35-5015-4072-bad7-b7b6e1bd03bd phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cb618455-2369-4302-b7ac-95d3fc7facfe phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6a0475ce-f58c-48b7-b774-ad2004f2ed21 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:76cfdc26-b90c-4ef6-8712-83c0fee6c169 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:534e2781-ff44-4570-a240-1852106b579c phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:538420f1-6ec6-4b1e-84f8-7d72123d3e00 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:347daff5-3a76-4b8c-9061-a67e73552103 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:addeeceb-405c-4518-bc8a-966dbc24021d phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3107c006-9e3d-46ee-96b3-757eb359d613 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5379b9e1-b499-4273-b544-af12d828112f phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a3fae583-4303-4b20-8301-ff7ba61edb77 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4cdf77fc-445c-4d09-9e00-1abe44c599bd phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:da18ccb1-4f90-47b0-83ca-d0953335a950 phenopacket.store:SCN2A.PMID_33731876_fam170 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ef35845-ee49-4115-b48e-64a303bf6bf8 phenopacket.store:SCN2A.PMID_33731876_fam170 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8cc1030b-58d8-453b-b2f0-20486da4add8 phenopacket.store:SCN2A.PMID_33731876_fam170 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a4ce5d61-b120-424c-9512-b2eb642fbcd7 phenopacket.store:SCN2A.PMID_33731876_fam170 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1f3138af-14c3-4ab0-ac26-6e6f057353c6 phenopacket.store:SCN2A.PMID_33731876_fam170 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:00305d7d-0982-41c4-ae21-5932ad8a7fd4 phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7b3a4a8-cbc8-4351-840a-5d98b5d7f9d1 phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eeff3737-e2bd-405b-bfa9-0979417bfaef phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2a5253e4-5f4b-47c9-8a7e-9261d09804de phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9edf1f1-440b-4168-949d-b7c9b253045c phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7169c930-8d09-4c73-a535-202053a731ba phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e7fcad6e-4a30-4f0d-92b9-b11a1f238492 phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e1a1fc46-39ac-40d3-967f-b4cc141f62bc phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7a71adc4-417e-48bd-8385-fe23eae121fb phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2e39823d-0c79-4b79-afdc-1d25bf5a36c1 phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9080eb6f-2d9e-4159-943a-e5cf7b1afe6f phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa57595e-8c5c-4ea4-9474-e91615373ce1 phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e6e84097-5447-4ad0-ac21-c7839b89aa6e phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:64a0d453-624d-430c-b532-2d38cd34468b phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1fa7d575-b6a4-49a2-b254-05ff83619e0e phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fe8b431d-2abf-4d46-a35d-17538c5b0c1f phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cebe7cf5-fa92-42d2-921e-951f67abc19e phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ede5194-5bb2-4dea-9c10-30433edc2888 phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ce2dfe3-20e8-4d83-9036-d36e05978751 phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a92dd61f-5f0f-4e08-96fd-32abd6bb7eb8 phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:373a659b-c2ae-4db6-bd6a-d696fbcfae65 phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:486d709d-4356-4a77-83dc-e59bc4545f46 phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:520f6879-4578-456f-b1ed-084db85befe3 phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:96f63488-9701-4665-b773-a12cf95a3a35 phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:423c8108-eacb-465f-96f9-23557208b5ea phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7e9544b8-de19-4059-a7e3-37b0639790ff phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e11dd684-2320-4577-af37-172286e10244 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bee4065b-7018-4ccc-83db-b77237904427 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0b795a1f-c111-4949-96c2-61f7223e5288 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8c1dad86-a042-4655-a1f0-a84ed08e35e8 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:37fa05e8-6822-4cdd-bf12-0ea8a8469e98 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cb92f41a-27ac-4a30-bcce-08c2a2cc2a77 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:343ae075-4aa7-488a-b2c9-c68605d98426 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a123e79c-6782-459e-883f-2028c02e5e9c phenopacket.store:SCN2A.PMID_33731876_fam134 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7d470c0-7a1f-48b9-b51a-147fdcc10523 phenopacket.store:SCN2A.PMID_33731876_fam134 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:afaa9ec5-e6b4-44a8-aec7-888551580273 phenopacket.store:SCN2A.PMID_33731876_fam134 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:83056ba1-5814-4f1b-836a-225841671e1f phenopacket.store:SCN2A.PMID_33731876_fam134 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d7d3411a-bc05-4cef-b33d-c41f247fbb74 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5528e69e-85a0-49f5-86f3-16d2fd45490c phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c37e971e-013f-4bb5-88dd-f249756df15a phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:42900ad1-ab29-44c8-b00b-47ca481777e1 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a71286a7-4c9d-421a-a317-1d167e70c0f3 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee425c7d-0320-489b-b2ff-dd8c8bdbffa7 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f64a492c-7303-4ecd-9fd1-6862d813f4ee phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3d179b0-621e-4a98-9aee-b60e458534fe phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ab8928f7-d3e0-4445-a3b2-7c97a7c3c135 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:418f847d-b217-45a2-b385-504b5f377ae6 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a951b5cb-225f-4394-8962-57195cb56421 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1af20062-6c0b-4706-82ee-222d1fb376ca phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fe631d8d-3c99-47d3-9af9-c0a16ee76ef2 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:074a7f48-8847-4df0-8982-9a1c9ab2431a phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc3a9c9a-ec26-4463-88f4-e9f9c009c90f phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc3df65f-e35b-40b4-a905-7b2f694c834c phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:02b3c5f8-db20-4ce1-8fcd-6134a888da2b phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ac6c0317-14a6-4b4b-abe4-6757ba24b153 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:78af5eae-6d2d-4253-b6de-a7496da4cfc1 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:20ebaa98-4567-45eb-8fd4-6a9eb4d1e0d9 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb8cf1e2-6d6c-4d6c-b8f2-8b2adb1e0c2a phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32f8547f-b9ff-44a1-a317-64b0abbfccc9 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b9d9a292-fd98-4d76-9876-d8fb8008f371 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c0c5843-6e8e-478f-a6de-1105344c4192 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4bf6b3fa-7726-4719-af5d-040e40952854 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bb502b8a-f939-495b-89a1-66e70cbd4ba7 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6703c576-0809-411e-b255-8e8f56fdb1c5 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9959d8c-21d6-4b4b-aeb4-5e76115e2b20 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fec54645-f65d-4392-9a3c-0d1b14f977fe phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7056d3ef-a436-400f-a43b-c16a44ef4fb4 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9504ab61-8bf1-4d64-a63e-a7d65a63dd4a phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:046f0917-cf66-452f-97cf-d4c924121fdb phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:de077a63-21e4-45da-a50c-f6b61968b1f1 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f1b5612-5f52-4736-958d-b055d8353147 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16276f69-2909-43f1-88f0-0897cbf8a18f phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eaeec513-8c46-4e5a-bb0d-c4c51a713dfd phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:10fd415e-b968-4518-9394-1c8b7bcc7ed0 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:317dea7a-25dc-4443-9a73-441ecc84db23 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:565138b2-769c-4b19-8c7d-cada6bb91e06 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fdb25da5-6a99-4a92-b186-7b2f7f53b490 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6737f966-3bc7-4224-bcbe-346aa93e12a7 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9526a7b-6d85-4a50-b6f0-4e73a96e4b64 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:66bef84e-bc63-4ec8-8e69-ba72d2ad2f7b phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:51f7d1fb-6c33-459a-8763-f49e468400c8 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:30486ad8-dd93-4dc1-9720-c8badf7f8dc6 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:384dfe8d-e58c-41f9-bdf0-126575dfab86 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9aee778d-b5ff-4b8f-bf3e-a5f1e1a57d1e phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67143849-6b83-4da7-a91f-3eac51759728 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f7e12b00-b347-47fc-b7a4-8eb028696eb4 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b79d59e7-94af-4bfa-8ef1-735c2b4e9f01 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee532469-1c92-4d10-8fcd-5977238a29d0 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b37e4d45-685d-427d-aa04-35f5784af66d phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ef94ab41-e449-438a-ac86-5670cd40a3f3 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c37651d1-c73a-4095-83ab-d230179e2243 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3eddcbe4-bf07-4f68-babf-55e34eb16f6d phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0c94fbd1-5223-4397-bd52-1532da77de54 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2c8f6897-66c6-41e8-8f02-6c35768790b7 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fbac9c2-6ee5-4f80-aa03-783db29f00d6 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7de9e95f-5aba-4db8-80ec-115ae775aad7 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d2e3fb2f-5b0d-4699-9d67-cbf897e1478f phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e08257c6-d44c-4f6b-ab0d-2e1aeca2ee14 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:57fdd8d2-dcac-4393-9c4c-a7c67b144386 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:94463cb2-4267-491b-b4ef-2a918e1a7add phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16557f5f-c8b4-4db8-a1c0-7a8fca4d2862 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c24472a7-b019-4879-b25c-44e2a9d23e7e phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e484af3f-32a6-467a-862d-f6b0ecb0d899 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e70508bb-df5c-487c-b4df-fbe886527425 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c5148afc-3a31-4b34-83df-fcbec09fd731 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e02c22c6-58aa-4f17-8c7a-2574d7f90dd5 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:69303ee3-fd54-435a-87c3-f93dfa619770 phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:957d6324-ea16-425f-8387-06f4c7ee3fd1 phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c24b58ef-b276-49bc-94c7-152a921b8307 phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51c75cdb-2c31-471a-aa7a-c0ab126e5c86 phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea7cb88a-6af9-4b7b-b757-89c81fcb65e8 phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a91809ca-d59a-4c9c-82ab-721261ecca1a phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e6b93df2-f958-471a-8a44-8385609e5a0c phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f1164600-af0c-4d06-8cd6-195653937380 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0c081b95-f290-460d-811c-ec35d10a7e02 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fe334c8d-d4df-4653-b291-8e056b88027a phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d2f684d-b348-470b-bb7c-910c8b03585c phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4b2fc7ac-c73e-4e8a-ab9a-26457c159921 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:784fb468-1991-4feb-8f27-dc09de0c55e3 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af7c5696-9a88-4dd7-a5c1-199bb6707389 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3b530974-e253-4524-a0ee-f9d326359477 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a92f9a07-57e9-4938-8aa6-0cc26b64462f phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eeec23d9-5dd3-4f76-bec7-82a6b285db47 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:89cc4283-9651-42b7-b4e8-3d588aa570b6 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:669c7d0c-26ec-4d78-894d-9d1e436bd4d7 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c0eb3a7a-4f1c-4bd1-9a8d-7d9ff7b5b974 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4a935fa7-db0b-43d6-8861-9d9ab9f69697 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7aa536f7-0ebd-4071-a3ea-0c574a833f10 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:25880677-5b24-4aaf-aef6-2eef7872eff0 phenopacket.store:SCN2A.PMID_33731876_fam99 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2a6df058-6c3f-4788-bbc9-fb7d403b6eb8 phenopacket.store:SCN2A.PMID_33731876_fam99 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9911c41e-0cef-43e2-bfb4-71c9f5cf3589 phenopacket.store:SCN2A.PMID_33731876_fam99 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1e2535b1-0633-4840-b046-093521635a3a phenopacket.store:SCN2A.PMID_33731876_fam99 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b054baa6-b5d7-498a-9bf3-68675051b038 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c45f3a5f-d3cd-47f5-a5d4-91f5367ad294 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c4417e92-198e-4afc-b3ed-6d59a1056763 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:95e5211b-c79b-4024-8d28-7725937ee659 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:139a8466-a42d-4e23-964a-e341bf8431ef phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c6cc4e68-81df-4c92-afb2-6ccb2189b3e7 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e8545da7-ddf7-41ec-876e-276310f93854 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e5c52803-c57d-4df9-a2f3-04f7d62e1831 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9df9fbaa-4cf0-4282-8985-b1e309624001 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0011470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:99b28231-19ff-4dd1-9c17-3fd8fa3474f6 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cbe7b540-232f-44b2-ae7c-7daa69fe0027 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6bb7d7b4-c76d-4239-8676-04f59da8ac05 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4ee4aaa4-8150-4a80-b929-6075661f5ee4 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4bbe6337-525b-4ea1-8c40-c3693e2f7e47 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0fb98d27-cf34-4134-9c28-677c3084bea2 phenopacket.store:SCN2A.PMID_33731876_fam207 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa0596dc-829e-4b5b-ac5d-d303211441f6 phenopacket.store:SCN2A.PMID_33731876_fam207 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:50d45ca5-ce45-4bcf-9946-badbf45cde43 phenopacket.store:SCN2A.PMID_33731876_fam207 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ec2bfb18-3cd1-47c6-84d0-f9cbe5e6e6d7 phenopacket.store:SCN2A.PMID_33731876_fam207 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:af71092d-4524-4d0c-8d10-f2094b9b8bcd phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0012650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5268815c-c518-46db-95f0-96c08ca709c6 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51be9caa-913f-4af2-a89b-bcf78ab2dbee phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d5685987-1583-4548-841d-ef3bb78cf986 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:034af0cc-9b2a-4021-a8df-4e1f49410e2a phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c7e4741a-04e5-4d5d-98c4-c340b944ecdd phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f634619a-5999-40c6-b7b1-2e53372f204f phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f81aa7f6-f0c3-4e6a-a95f-853f4296afb1 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0200136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:670f2253-05c1-4d02-8557-2ccfc1feae9d phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0007371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8bcd9e6e-733f-42fe-9555-c99cfec703bf phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0007266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea1f9319-35a5-4bf0-9a32-7ff68dfd8e06 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4495e854-c0eb-40b7-949a-670d5aeec55c phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2098753e-1b34-4548-a457-85529eced6a2 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9dd54768-3d45-4c4f-995d-6bf0dc19eb44 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:583f2849-3b32-4de8-a385-a762380f339d phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:145bccfb-144e-4225-be94-c4e1732f6996 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bc04b556-7623-4fc8-867d-1d51e89cf332 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f848a16d-f9f8-4933-aac4-665f13c5117b phenopacket.store:SCN2A.PMID_33731876_fam370 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b5ab8f4e-6de5-457f-a3ac-42cb714ab9ff phenopacket.store:SCN2A.PMID_33731876_fam370 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3dfdac93-48c3-4878-94bf-cfbf04c374f4 phenopacket.store:SCN2A.PMID_33731876_fam370 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b705c3e3-0bb5-46c4-9da2-ff8558c27c6f phenopacket.store:SCN2A.PMID_33731876_fam370 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2a2d4b12-88c4-465e-9a4e-c0d2c5a205a7 phenopacket.store:SCN2A.PMID_33731876_fam369 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:74f89bae-cf4b-4195-8ac1-b6dcaf9a2af7 phenopacket.store:SCN2A.PMID_33731876_fam369 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:56c3bcaa-713b-4001-9752-86089de12d3e phenopacket.store:SCN2A.PMID_33731876_fam369 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ac85a5dd-881d-4f4c-8787-cd73f4480814 phenopacket.store:SCN2A.PMID_33731876_fam369 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d00d3190-d3b1-4869-b577-d83546b9566a phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7224c75e-5b8e-4087-998e-4d166f127c05 phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26dde51e-ce1b-45f5-bf61-bb4d3421c538 phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:02a239bc-0c0b-493f-86da-a55c8b6539d1 phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:10fa4718-67f1-4aea-80c0-deb7eb44cc70 phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:871792d3-10a8-41de-934a-f36590e3a64b phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:46b8fb9d-2de4-49df-bf7c-a917d29f8a12 phenopacket.store:SCN2A.PMID_33731876_fam119 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:80316e1a-27c1-4680-bd57-c5645ec5bb22 phenopacket.store:SCN2A.PMID_33731876_fam119 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ebd887eb-8a42-4a05-971b-bcc6604a053b phenopacket.store:SCN2A.PMID_33731876_fam119 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:743f2a75-5cb7-4a81-8038-926f8b354f92 phenopacket.store:SCN2A.PMID_33731876_fam119 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:77237f45-82b8-4fe3-b6c7-2463f1ab3cc3 phenopacket.store:SCN2A.PMID_33731876_fam117 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:20b90c5a-51b1-432e-8c3e-a183c6859d2c phenopacket.store:SCN2A.PMID_33731876_fam117 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c39647f0-69f4-458d-93b8-717e60b68629 phenopacket.store:SCN2A.PMID_33731876_fam117 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6721e24a-b28b-40a1-b785-dbe7906c3454 phenopacket.store:SCN2A.PMID_33731876_fam117 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8132af22-b329-4e7e-a5c5-66e4946ab550 phenopacket.store:SCN2A.PMID_33731876_fam117 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:824ffedf-4985-4c6b-89fc-52c2b44001e8 phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c94b06d2-d2ba-49da-af49-39a69ee9e562 phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:58656a32-a51b-4cb4-ab60-28e018ca6ae9 phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e1d79fe1-337d-4541-b569-5af5dda889dd phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62f3f362-9bde-4c83-8c32-05226b8dcf12 phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f1917782-0657-4401-8176-7b8564ed5316 phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0b1af6c8-568d-4632-9e51-f26a976c7d2f phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ade63f11-2f34-41aa-b09b-de2dc3ffa73a phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7a646d17-b5c6-4f7d-a3c6-f7770e1c286b phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2f609fb6-c8cf-4cb2-b4be-9006dc06cb7c phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:15155ab3-a3c6-4aa4-a1d1-e99c9c5ca01f phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d8e9734f-b21e-444a-b988-bcb47998b0fa phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f52749c-5532-4670-9140-1fe11b95f7e9 phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ac9518a4-0b4f-4731-8f42-1a34fdf7dddf phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:803bbaed-d40e-4a5a-85e0-0f1c7e716c75 phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:387c39ea-5dd2-4555-a6b7-b24584a4623d phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7abf81ef-2c5e-4488-bb50-544152219796 phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ff7a3238-6afc-4e7a-bb8b-342c93522c30 phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ed27d7f2-4625-40d2-9989-12f909183331 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0002381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:22c59985-d8a9-43ad-9771-ffc67a122586 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:98698002-a04b-4168-8b97-8f2c046bee14 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:97df68ff-cc5e-466a-a3fa-2df9b22f30d4 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:edf9e116-cdf8-477e-b8d1-9b91357fe60c phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f4e6dc71-9d6e-4532-82e3-e42119a5b47e phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:28808807-6998-41c0-b522-2abe0c9136c9 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1b716615-f72e-461f-9279-e0befe9ed40f phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f4496399-4531-450e-9bad-1b8681aa2466 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:58ba49b8-5206-4e51-8967-ba07378ab631 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ff86a91f-534e-455b-88d9-5919bbc1d166 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7e9601e2-b140-4c6a-a527-fb35aec26d53 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4fcf7ebb-e5cb-41c8-b6dc-99847286d4c8 phenopacket.store:SCN2A.PMID_33731876_fam176 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:db804c2b-edc3-480d-a40e-1ebec0f7d53d phenopacket.store:SCN2A.PMID_33731876_fam176 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2a68b9a5-6bdf-4721-a50f-e24311b9d461 phenopacket.store:SCN2A.PMID_33731876_fam176 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b6474448-33bc-4e2f-8ca1-8340826ee148 phenopacket.store:SCN2A.PMID_33731876_fam176 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:da0189f0-921c-4622-a1a3-f26c9c61ab2a phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:927e9706-95db-428f-9653-0888b5d0d895 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:55e944a7-db3e-4dfc-b5db-5e8e09e30abf phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0002181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:18fdae46-4e2e-446b-adbf-195f36e45f45 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d2cadc8-2278-4a01-9d0c-71b0a88615a8 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f6802c96-74cc-4c9e-a01a-a08c57a10be4 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16160878-f6cd-4455-9ee7-90a85437e142 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:50aed36f-ac94-4f0c-98a7-73ce312a4ac6 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0ec884c-40ee-40c8-aa1c-7dc0433d4f67 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f70cd772-8c1b-4b49-8fd9-2b3b6b28ac2d phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a4601589-096a-4f8d-a908-62771896cffe phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1f1b8bc8-e1ba-466c-b40c-cadf66e37bf9 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_phenotype HP:0011294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd9afe74-51eb-453f-b62f-dfcdc276f496 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:42ccdcb7-0351-4085-b102-9e31a1c16442 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_phenotype HP:0011295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9ae555fa-87b2-4b6b-a82d-3b09e3c72ac1 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ccf4ee8-1508-4ae6-a377-69ec933d24c4 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:804cc5c5-75e5-4ce6-b52e-e96570636b48 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:48ac270c-42d3-40f9-9d66-6dfd06980d9c phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a2fb20f3-6e57-4c44-aae1-56f6bb5f56df phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:67095c77-af6c-452b-90f3-ecf6cb5fae54 phenopacket.store:SCN2A.PMID_33731876_fam123 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1cf92c1a-f8d9-4ff1-a216-05e3321a906f phenopacket.store:SCN2A.PMID_33731876_fam123 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f8a0c81a-58c8-42db-8adb-def3a94ecac7 phenopacket.store:SCN2A.PMID_33731876_fam123 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:96623586-d082-4f67-8b2e-82db4b1364c2 phenopacket.store:SCN2A.PMID_33731876_fam123 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:86c5cb6a-d3fc-4500-aeba-7430fe813556 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2386b01f-eda9-4b67-bad3-633e43cd6393 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e19ec03c-6b47-406d-94c4-6340444ba57f phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9022a2a3-9708-4694-9aa2-20d460e4afee phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f03ea8d-f966-40ba-a216-5b46d10d0db7 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0f41d1d1-010b-4e43-91a1-dfcd53ec54af phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:43e26527-0f16-4234-8785-8e55cb529cd9 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee48924e-ba4d-4414-8618-5fbc23ddae7d phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da3bdaaf-3e4d-4d54-b2c9-a6f2ddb9f70c phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f995fd86-66fb-4419-b788-af014a11a4f1 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f23badf-3659-4eca-a054-64635fd07571 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b926c484-c7b3-4a0c-83d2-dced67346f4a phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:226bae3a-40eb-494c-a4f9-67b477400264 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2546153-f32c-4d7e-85c3-0e585fc86538 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bb5fb86d-ce60-4371-a071-c918d60f4892 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:54eabbf7-a0fe-4784-9e10-85ca3656991c phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:23df47a1-4f7d-4830-88a8-45a9584c2e9b phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d53da923-899d-4f22-b186-ce520f13eee9 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f99eed17-0f00-4afa-8bd8-d7b1dde67610 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:56da99fe-ecb5-4d3d-97b6-8006c2277b00 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7e3854ae-ffc7-4db1-a793-5cca98df5722 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1b4e28f2-cfaf-4475-92ac-ee93f91612d1 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f28d7ba-6add-4a9f-a881-2514c351f2f3 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a2986e7-ce0a-4065-a270-3d0741cc8778 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba085d59-1733-42b4-a61b-e8d0bd0f8f51 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:07ddfbfa-ab0e-42c2-be75-1ff50509e710 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4efd98da-6ecf-4c84-8249-131f97d4eb95 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:00da27e6-f880-43f6-8825-974d86b27e77 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:879d5918-c826-4432-81ad-2e2d4b329148 phenopacket.store:SCN2A.PMID_33731876_fam378 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7111d6d5-d58b-4b57-ab6a-f554731c7f8e phenopacket.store:SCN2A.PMID_33731876_fam378 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:82534997-173e-42da-89b9-831cd7a3f0b5 phenopacket.store:SCN2A.PMID_33731876_fam378 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:038a54e0-f156-430f-b630-907f900b3328 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:041b606d-46e6-442f-9386-6ecaa0c988c9 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ca8e5fde-509f-4d90-85b8-240de1689b26 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de8f7c4d-c38c-4804-ba35-6740cc59fd4b phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:36c98e3e-e3ed-437e-975c-48c1878e48ce phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9d1c853-5c7e-46c7-94e4-19a7f5f0ae34 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:adce19a4-cc13-49a7-a71b-fc523aebf4b8 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e7b81e77-521c-4952-9943-126ed4145ca2 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1699e3eb-5ae7-4fd1-b321-1f51c995be47 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7b16116d-9cb1-4471-a82f-e598cb99fd5b phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c0172880-5fbf-4d7a-84f3-05e7c9c7dc55 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:86824b58-2c4e-4476-8ffe-030ff6b1a5f5 phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec6e7dc9-5b0f-4c1e-9c18-56d4e4841179 phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:915f2c81-a144-4574-951a-998e0b5986d1 phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:84c1da6c-3aa4-47a0-9c72-27c7122e539a phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e146f78f-0aae-4e8c-8b26-4c2c9a065a63 phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ab303887-e3ae-4628-9878-9b58fd498f93 phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:936fa875-690d-4973-863a-a51684ded09f phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aafd8b89-422a-47d9-8f46-5f3db88b84d4 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6cdbdeb2-629c-4a97-929b-8ff3da480d9d phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:72b875f6-a6fa-4f9b-97fa-1922da2bc346 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cb109ca1-83e5-4824-907a-6a11535eeafe phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:36935dc3-b894-4cab-b467-f336fbe09a80 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3fe279a1-9894-460e-bcd1-12f916684263 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:77173538-9502-477b-a75a-265c21f5e840 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:84b94807-61ed-47eb-84da-0dce47518945 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f0b017b3-978e-4f62-8434-8d190d6cecdf phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:54de4a78-ab98-4c3d-af26-3a4226f8c2b4 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c581f82b-66de-4145-8cb9-40b7b3c199b1 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34dd42d1-d544-4825-b540-9dc527cd26f5 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:83b26e88-3719-47d0-b9eb-e2ff1f6a436b phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fdb0bae1-5c7c-405a-8470-05512d73e038 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cb7d39de-dca1-491e-91b5-feeaeefdf648 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7bc4d570-dd88-4abe-ad62-6a6e9c47d5af phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9c1eed30-cdcf-4a4a-902f-e1bdea690302 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8d922432-08eb-4b1d-b4de-3b321c98491f phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ffd3e35-7ef7-41a4-9148-592c9ad3869d phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b59125c-b7cf-485b-8203-c1d21d305a23 phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:11d8b5b0-26c3-4c12-84dd-88068cdd1db5 phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:46f99f6f-c827-467d-94b7-0f09bfc6c5e0 phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:002e3a1d-8db6-4b1e-bd29-4ab6c84f9508 phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:75921a18-a358-4d85-a231-2fe994108fa5 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f067bd3b-bc44-4c97-9914-c0c7609723cc phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:32c28a05-531d-48da-a463-ee6c95f469a3 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c4229e7f-387c-4595-9fc3-753c7ac68217 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:961c5397-4594-4de3-a558-889a82536c1e phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:95cba383-c05c-44ca-9722-b1039993ac0d phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1cb26435-2e11-47db-9d3f-38807145c9e8 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f9aa3b49-a5af-4fc7-abdc-f10b222cb75f phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:52c11d65-45bc-4b4e-84e7-97fa470d6e21 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3cf80966-6dc6-4723-b365-b33d4cfb64d7 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c72065bb-f076-4a63-87f9-a4ae9a94d435 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ac88340-6c55-4b38-882a-6eb4068fe8a3 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:35881bb3-fd10-4567-bbfc-67520486cf46 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:955208d9-ccd4-435e-8508-08ef8a62b675 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7d29ca0e-ff50-487e-8574-95182586771e phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4b07d97e-d156-4df8-80eb-68896b2ffd3b phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a2ac9dad-d518-471d-89df-02f326714555 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:31f35acf-7956-4f5d-b81f-c5ee0f73a5e5 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f4b82a2e-c7b7-47e2-8296-a8114102645a phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:70815bbb-b54b-4e5b-8809-a05ad85c56df phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0012433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e5702d49-8e1e-44a6-acc3-879658d6c102 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:97e7aca7-f641-4835-ad0c-a34a2c901d24 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e56da40b-9abb-4a3a-8ba7-d4424501c6b3 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5f72d499-bfe3-43bb-932f-e3c7b2977538 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9701cd4c-da42-435e-8b8d-e0fea077b205 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:130e0010-5594-4538-ac49-ef322de2fa23 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:07fdcd5d-721b-4593-835c-c96912a76e41 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dff99064-de35-4d31-ac5a-e78100219049 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:44cab130-c340-4096-a91d-ce16841fce24 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec61912d-949e-4d8c-91cd-bf01a585c2a1 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8d5c2174-817b-4aac-bb9b-619fe883db16 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e6e2a8f0-3227-4d72-9690-94f121b69826 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7a3cce4c-93e6-4664-b0ab-c17c4521e86a phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:04bf1a86-ad27-418d-bb28-2cecd4125aa4 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bda812aa-17c5-4e31-89ed-87fcf3fc81f0 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cf131424-83f9-4cb5-b822-4c7fac4c8d15 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b82ee254-fb73-4f44-a71a-61980ebd5570 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:01fe74b2-ea9a-4778-86b1-77f114c38bd6 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:393e1300-a6b1-4216-8600-59485e973fca phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c338c750-baf9-44d8-a9f1-4370fe4c954d phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dec8fbea-ee3e-4468-be58-41c5e9d16a46 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee417628-3220-4d2d-9a53-9f90891ddd37 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:256fb4bc-e38b-4136-91f5-05c48535e76e phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:797aab10-75e3-4c1e-8bf9-e01b2c3cc5cd phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:11752214-769d-44aa-9c22-fd515eac97d0 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8e9db965-2116-47b9-865b-e46058a9fdb4 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c300a927-217d-4d7d-9e8d-ec4257c477ab phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c730b980-c097-4b06-8432-6ac445c88e1c phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ffa56952-dd64-474b-9b7c-fab9bf0f585c phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b4f4070b-995e-4764-a382-a994c191ecaa phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d7372435-653b-4722-9725-a5e5e064c19c phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f19d52ff-967b-47dd-b3be-b67e6e2495d1 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6c682dd0-753a-4a46-9b7e-3e7d219acf58 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7c125d97-9a03-4673-9d38-67a166a1a2c6 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6b54f5b7-a13a-4b98-8026-61845df740b1 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:13537496-42f1-42c2-8477-58c1dcf5cf58 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:99d6a713-3379-4457-ad63-57fcec56a994 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:69c2a7bf-842a-4e02-84aa-e9cdf3f56466 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0998959f-ffb4-48d9-8666-f5c54078cfcd phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0012430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:420b0882-2306-401d-93f6-4b44916444b2 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6a51f02b-863c-4d27-976b-1ff42c80b47a phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1e0b5b7d-a50f-4c8d-9292-6696f7855ecf phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba38f478-e30c-4bce-8891-7b03707958c0 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25c3d44b-6524-4891-96d5-49a57059af41 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b83539a3-7c57-49f1-8517-5ba906d0ec66 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9557d63f-75e3-408e-bd39-aeab6a359e0f phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd98df39-0c84-4943-a7ad-b24b2d233beb phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3784e2a5-9cac-4974-8396-9346e5711b06 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3bf024f-c57d-46af-963f-f65e1e93dfc9 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4b2ad523-46ed-4283-b951-4bd8fd2961d8 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:48c7453c-b0c2-444d-b615-c8af902b256b phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3edf0677-bc82-47ab-bd9d-92e9a82b3c71 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:027a65ad-aae9-43c3-8423-39ae048f86a0 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0001317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:178a5cd0-63a4-4532-89ff-5518218b2481 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea01cf12-97a4-4fe8-94df-121e703c922c phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3e0624a3-ee9e-47f3-9b27-5f5222f1b37c phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:27d1146e-c16a-4378-aa9c-edd07f37cd25 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44e1ee81-2872-41ef-aedb-cc18f3327e33 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a3574b1-e0f8-4b9b-be83-bc90ea266c9e phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f87bbb3-c226-41ca-b8f8-3c4bffa5ade1 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:078efec0-8080-4fa0-93a8-36363845ce57 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6ee1b19d-831e-4a60-8b05-a58bf11a132a phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2499f3ec-7a9e-4174-9eac-d53456b7fa15 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3ef78fdd-d600-45a0-83b9-41336a7d780b phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:626d375b-8595-4cee-bb5d-76f6e246be28 phenopacket.store:SCN2A.PMID_33731876_fam323 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a77d03b6-8865-44d0-8d29-b4acd00ce03f phenopacket.store:SCN2A.PMID_33731876_fam323 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a87c087f-d68f-4d8c-9355-63049fe4dfbf phenopacket.store:SCN2A.PMID_33731876_fam323 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7d942612-c1d5-45d6-9384-359f16617773 phenopacket.store:SCN2A.PMID_33731876_fam323 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:efc0a9e7-8765-46dd-80d9-25dcac87de2b phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8fd361e5-ed8e-4c26-9cb0-6160fb1c38d7 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2e485f7-fa49-4a0d-ad98-700b1210fdc2 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ab2a7e99-1835-4951-856e-a7cda377dc72 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9b65df5c-5ed6-4a13-b9d7-489c7e7c01b5 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f5084819-b482-453e-902c-bdde495025f9 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0b4a459b-b36e-4bf3-b7aa-60141a2b6c2d phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:273df4ee-420d-46bc-9457-71e6cfb40d63 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0aed0f6f-6ea7-43d1-afe4-2418c0731f3a phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:293cf8e5-8dc4-4a38-a442-5b6dbe41ba65 phenopacket.store:SCN2A.PMID_33731876_fam75 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3deea31b-6dcc-47b7-b598-25b78db46168 phenopacket.store:SCN2A.PMID_33731876_fam75 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a40b64fc-457a-4f76-aa3d-040133774b86 phenopacket.store:SCN2A.PMID_33731876_fam75 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c5567835-1517-4e6d-8fe7-27611d719d0f phenopacket.store:SCN2A.PMID_33731876_fam75 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3e22d949-8e83-43ad-8824-d971951f8009 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ec3d10b-3990-4204-ba3b-44d38b701dca phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:072f344a-1e60-4930-ac10-21af143044e4 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0005957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:79ee456f-9c36-4ee1-9b09-f9f2dddde7e2 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:30071493-bec8-4db5-937d-3069323517b4 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:36d17020-7ef3-4c05-b3b5-2678d3cfdbcd phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5c60a625-c81c-40b0-acad-fc8c8646b871 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec3a3726-7b50-415e-b176-b30543779e95 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f758f21c-4065-4006-8e61-397e27ad73ae phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:852b8aa1-cf1c-42d2-8458-6694ee708a8d phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:37cc6412-72a3-4aba-8b39-d253cd3c8af5 phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:76aa3215-f52a-4c16-86fe-21bbd830620d phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ae4ba214-15a9-4f49-864b-83cc9ac1480e phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1b4bf241-1916-45da-84c2-9887e57108c0 phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:acf4d734-3fff-4b6c-9631-08d3e3fceee0 phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c5517ea5-1a86-4294-8a01-93e912ac3e2d phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f0c5ec91-4985-4da2-b8b4-46a4a65c2900 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ff66ba9c-38a1-4bb1-ac85-8e8cbe59a529 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3604c23-da10-4d38-b738-c5037af90044 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_phenotype HP:0011296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b33b22b5-d7be-48ec-b351-e9a17014cb21 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_phenotype HP:0011293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67e3b804-6d36-41fa-9bb8-2dcd62520698 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5ccfdb74-158b-4fb9-9037-54fbd48565a0 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b6a36d22-a263-4d8c-8d4c-4d220d30aea9 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6cc4dc9d-eb49-48de-b3ae-127a5b5975a9 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1defb4cd-81cb-422f-8552-c90963fccbcd phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c1adb7a-7ff0-4e35-8011-eb817080d090 phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9f60c7b3-7e3d-4cb8-8ecc-a432a574e673 phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34e29dd0-a5ee-43e3-b956-f0127481b71e phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4976c8f9-2ca7-46f8-808b-773d9d48465d phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1d273986-2ff6-42d6-861c-e30f5075dbe8 phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ceb17a89-8bee-4b72-93ee-8ddfbd115ca5 phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e2175f87-1736-4781-94c4-d567838ccfda phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:50762b3c-873c-4b4a-a1fd-236efe33a150 phenopacket.store:SCN2A.PMID_33731876_fam152 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f965bb19-283c-4ea5-94eb-17364faf3507 phenopacket.store:SCN2A.PMID_33731876_fam152 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9d2be254-a4f1-45d8-9eef-b067dcb6083a phenopacket.store:SCN2A.PMID_33731876_fam152 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f2874f6d-2140-4d71-b26c-e852c82d3b99 phenopacket.store:SCN2A.PMID_33731876_fam152 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7b09e7ed-4cf3-4f9b-8def-f849f289474b phenopacket.store:SCN2A.PMID_33731876_fam152 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8aee315-f74c-4941-afb3-d9c617f20022 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aa87c660-634e-4ff6-9684-36c53020a243 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ebf2bb88-987c-4698-a942-444952d7f773 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bffef4bf-a7d6-47b1-835f-c95d756c6a58 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7b1427ac-3aa4-42e3-8bf6-de825d6ac387 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:411be8a3-8b70-45ec-8a67-8d1d4605fe34 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d3768a15-651a-4011-9d47-f4e790b947ca phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:14def82e-d1d1-4cd7-a092-7b228080ed01 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1128e1ef-2f9f-448a-b6fb-d2bd600b0fb2 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e1ec4d6d-a840-4e2a-a8f5-27bd5e7b5c5d phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de0322a9-572a-4f00-9d9d-f61934c28cea phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:95c50528-c80a-4f09-b12a-c8ee4d845612 phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6b4ea598-096b-4fd1-83ee-87b691a0379f phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:32fc7d27-ff69-4004-900b-1cc86cefa3fc phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:de1661ee-e986-4cb5-be9e-3403f38f343a phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9b7c3bdc-78c1-4d67-be67-ca0c00e865e5 phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:795076c5-b708-4f53-9fa2-8698f2f72356 phenopacket.store:SCN2A.PMID_33731876_fam320 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:839e3de3-eb69-4576-80fb-b72d5f4c5b41 phenopacket.store:SCN2A.PMID_33731876_fam320 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:281a5f77-3b00-4e9c-96de-e5c0cb7a3f7e phenopacket.store:SCN2A.PMID_33731876_fam320 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b57e701a-27e5-400c-a58d-d9c8f9d4d3a8 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ecddaad-9c6a-4e30-9fa8-f61558b2d646 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:899f720f-3e07-4e07-97dd-2a9f4f3dece2 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b79082ed-69ba-45dd-af36-a0f74339a6da phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:941e863b-9dc7-4f5e-9a89-ea14c54b62e5 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0012748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2904d758-ee3b-472a-a1c5-34b9a10b3b9d phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:042e88b3-52f9-4ed5-beaa-bc3cc29902a0 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44af04c2-38bc-4f4b-9812-db34791bf5ee phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6fb1dbf5-bc10-472f-aaf4-49a81e5c7621 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7d3f2aeb-c4de-4a8e-a2c6-9a39fea0fa6a phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:de874151-6e0a-4c60-a44e-d1648f121294 phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f61c0d5e-6753-4079-9f73-d547720fa3ec phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d72df15-b829-4888-8f50-a4d33c7f732d phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:207db7fe-e36c-42c8-97e9-a126cb2353f0 phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:683289f5-3538-45c7-97ce-942b1df99c06 phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8fdfa2c6-5324-4e2a-8b6c-551bbfbdc4bb phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6367d5e2-ff70-4581-b55a-034b7e14102e phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:95a1d7b9-5e10-4dc7-886c-e4af3971bab0 phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:08812fd9-483c-471b-8cd6-fdf177d304b8 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2e68e543-ae35-47e1-8615-6f8d5500c881 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:54ae182d-4f8e-41e5-88c8-f81173f596be phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc528e75-7396-4c96-98d4-ba3e3c02a03d phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0012692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa8dfceb-032e-4ce3-9075-6dabf3fd3cec phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:52ae7294-7a7b-45d2-b6ed-c3d99a58d639 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c900d2cc-9c30-4b7f-8ffe-022898948db1 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:727759ea-2196-4b89-95b6-55e32390f8d1 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e6555d13-ebd3-41c1-af6a-208507328a75 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:770fcd25-4fee-44e2-ba7b-c2d742bb91d7 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c892732b-51b3-4955-b326-901a3b06640c phenopacket.store:SCN2A.PMID_33731876_fam103 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62588a00-227d-440e-b306-bd88f1dbb6e3 phenopacket.store:SCN2A.PMID_33731876_fam103 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fb62b281-fee1-496d-b2d7-1fd01faa4bbe phenopacket.store:SCN2A.PMID_33731876_fam103 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2dc1435b-fed3-4201-9c01-0da466903a83 phenopacket.store:SCN2A.PMID_33731876_fam103 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ea61a7ae-b6e3-4205-a3a0-2d8e49d05b5b phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a018d97-d332-497b-b484-3701b46b8fae phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:38f128b3-b08e-4582-ac97-b007b54a709a phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:641671dd-3fdd-4699-bc5e-51f734a06052 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f56c189f-da38-49c5-8daf-7e27d5c488b7 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba38cc1f-338c-4c02-b4ec-6bfc0720efd6 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c929c95f-ff37-42c1-99fe-4af0a3bc8bf4 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:66dfd694-99fb-495e-90de-d8fa91ff5ead phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b6774ce1-97ec-4952-bed8-d16c15f555e3 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1d37a9db-fc47-405f-87d7-ce2e99366ccb phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fe8965e-2e90-444e-89b3-2b80dbd2b204 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e87ea9ef-484b-40f8-8303-1e47f9bf6db8 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a70a89c8-84ba-41a4-9b7a-4121a65d6f83 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c05f36d5-7365-42ed-84b9-33c032123ca8 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3f6d9be3-c466-4666-bdb6-00e5b5a4814c phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a6584e80-6f55-4c4b-896e-7715675f58ba phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0684d15e-245e-4696-ba41-841d961ab4c6 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67f5f40f-be33-4344-a90e-c95d56dc8e9d phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:72b1498e-d60e-4a1f-8398-78d602f7d655 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2736021a-8bb2-4a8e-804d-901ab66d0d7d phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2d9d2548-e4c9-47d0-8d56-49698a4a5ff6 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cf1dc72b-dd8b-4d4a-86c9-99ca9d89a734 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1cc82413-a834-4589-bb2a-7407558733d6 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c4fdc9e8-a334-4ea3-8d60-51c4c2a5aa71 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2ca771f2-b5db-4926-b49e-96913350be84 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2b608183-f57f-4c6a-b90d-31137d631fe4 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ce3f63db-6d4f-4bb4-b952-47b61d91fbc9 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f756ed6f-73a5-4fbb-b18b-517e8f581500 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:979392d2-433b-4cf4-9061-d58e20a0df69 phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d437733-0974-4df2-986f-9e77a90fed66 phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:edcd8d7f-00ce-492a-85ad-33cb67176b74 phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d1f0aa75-6d18-42ee-bfe4-d35f30d0cf9e phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:64fc25da-088f-4e64-a8cd-758fc4c98dc8 phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9eb2cd01-a987-41fa-aa56-d4eb6215fff6 phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8663eee4-b13c-4215-9590-38956f8926c5 phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aac78e67-6925-415a-9504-24c0a2d446d2 phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_phenotype HP:0006892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:28facae7-dbb6-45d5-9554-545775b78f8b phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d4516185-fa4e-4927-8dbf-b0e603f0fa3d phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3f6e9945-9c41-467e-8fc2-64825d8780ff phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1de054fb-1bb7-434a-8f95-1ba3d257556f phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d0de7b5e-0f4c-41b2-a12f-75021320081e phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:babae7f1-f87b-4ff8-8383-42342244bcf9 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:81f185e3-6b96-4a20-aea4-876eab7d04e5 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:baadcdd3-452f-4183-8b45-e833e43f3f4d phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9229700-0ba5-4972-9f05-68224f63077c phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee0740be-4cdc-4002-b36c-61c1025cdc52 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2037519c-1d5f-4724-add7-7b571250508a phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:85c09f7d-c213-419b-abec-eaad7a066c88 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f919f195-04a6-43b7-b2f2-5155da935c34 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:58f1b177-176f-4eb0-8e2f-be4af081c124 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f2724cc6-bdda-4435-8418-3aa5a1d9892b phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9f270c77-b185-4426-97f9-0f59478ff002 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:eaf4cb76-7342-469c-a275-4a502726145c phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6f167aae-06bb-4fc9-82f5-376e0ce9f739 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:17cc992d-4d42-4ff6-ad3f-20d96697ea91 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0006892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:27246731-4da1-4ff9-9e58-6346834c2192 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c4d44eb0-6159-4e0c-bb9b-66d994ef1981 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc9932e2-b5a9-4168-8392-4aa1939afb7c phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:01dad10e-ff77-40d1-b429-2219ec07b36f phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26774f1e-d9fe-4b00-9b72-2c53e99a48a9 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5594325d-ff43-41fe-8543-31dd599e3cab phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:43c4cdfe-e986-4a00-9a8c-d3feb2c7c029 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:295ee5ef-25ce-4224-b3d9-96d82758e121 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bc172c99-edb7-4add-99f8-bf9657f47be1 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9514fd81-2479-4164-af6c-1e8cd602e7ef phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e3c41d00-1754-468f-a716-75dea19de53d phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a4465f74-4c25-4bba-9a6d-a8a9f3787a3b phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71ea4d56-2f8f-4d3e-a3b5-fd16e38f3e49 phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9205d45-43a2-40b2-9a9d-9bf44ddcefb0 phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d8369813-5c6e-404b-b2a5-a24f3e3706da phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f96d010f-eecf-4d20-9a55-d5cb6a354430 phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1c5e40bc-d4d6-4c54-9a90-047552688193 phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7ab89b49-09f7-4183-96ac-b62310a9e58e phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cd056f9a-44f1-43df-8cb9-17834bb4dca9 phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9fd6d886-9a94-4768-819b-e8b0b79c8401 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7078aae1-954d-42f9-911f-65f2b00ff926 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21d19a56-c928-4234-8675-4aa46b68d23f phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2062ee70-15ad-4819-a8c0-e95754bf1d21 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:56d6e022-ce5a-49c3-afea-f918754865e5 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b18216c8-3c54-4261-8330-f3dd4ecea284 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e9c49b72-41a3-4cb8-b136-7f35b4274533 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aaf64b63-dd49-4518-bea9-50aa2e6538e5 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ec2e581f-5974-4e2b-9f3f-fd83af8e73ac phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dd85521f-7329-4257-bc1c-5e5cabe5f885 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f30f48bd-5d3a-4d3d-be25-5034b6ef81a9 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f06ee181-7f94-4c22-9b9d-041fabc0ae18 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:72775dc1-d009-4a21-82e2-685c69ab1bcf phenopacket.store:SCN2A.PMID_33731876_fam210 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d3c995f8-2313-4061-bcf3-6457b3dd7d35 phenopacket.store:SCN2A.PMID_33731876_fam210 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ec2fab2-fe6c-432d-a4ea-044a0b83a126 phenopacket.store:SCN2A.PMID_33731876_fam210 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ef279c75-d00c-40ca-b451-5d89d81987c7 phenopacket.store:SCN2A.PMID_33731876_fam210 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:499f49b9-d186-4cb9-aa32-0980503b77e4 phenopacket.store:SCN2A.PMID_33731876_fam210 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:044c1dd6-2624-4e7b-98fb-1e60bbdc2181 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:279e6f67-2e9a-4e39-8c07-14c6fe650866 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d856d1ab-f825-49fc-adfc-cb9fd59fb354 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:784adf14-089e-440f-be95-bfac1befbf53 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6e7acd3-6fbb-4baf-a541-9d701eeee4c9 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:33e642a0-ca62-464f-8b51-f8129c0e3d78 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ab5c2287-7f11-4c43-bbca-665f38226f63 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4dd1a48a-5a26-498f-beb2-bb8189a765dd phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e4817db9-c42d-49f3-b5fc-48b83d34c192 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fe002d9b-eed8-438a-867c-ab52eea0d8fb phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8ae9a30d-702a-446a-97c9-322321681e85 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ebd30db3-d545-4d5e-8f9e-651395d1b76f phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:13a94ce2-2229-46c8-afd9-d87563eb4c03 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eeafdd5c-b778-4e21-b288-4acd1a8ab9ce phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f5c92391-cd03-4c0d-b3c6-1d8072a24548 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1acece00-b54a-4995-9ee3-8706a228df99 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cbaac6c7-786a-4b28-b5ff-751ecf39f1b2 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2d3bea8a-3909-455c-b357-0614af8763b3 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:df0d54ca-c7d4-438c-b34b-5df0ace26055 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:92f75aff-3b6a-4b4d-8c4f-5ac907e4de60 phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8457068-b886-410c-b3e2-fb8d9cc042be phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e8be451a-1ee3-43d7-9366-07517497542b phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e239b1bd-e814-4103-95d6-dc3fc754064e phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9431d9b7-cb2e-4d56-879e-08fc771f8ef3 phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f7a5974a-f868-401a-b0cd-e627b7ad9bee phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cabfcf3f-e7af-46c5-b1aa-8ff975ec7d05 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0011179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7d300b50-5662-485c-b0a7-0a25fac4b912 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:31cd0633-3a0a-499f-bc05-a5bc12ba90fe phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f619384e-7fbd-49db-a663-be9d791a8a18 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:48db975c-02ff-4453-878c-7af73076f8d6 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:06c77480-6f5f-4087-a46c-e7922204a573 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0e41780b-92f9-4704-b0cc-a20ea91df77f phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f11744b7-0f54-4471-9970-8caadd29d34c phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d77538bb-be38-429e-b368-3dd29f4c1796 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0010553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7b48571f-e8f9-4aef-91b0-a4aa00bc351b phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:35c320e2-c8c7-4cdd-9c8d-763ba329e00e phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:ecc2c68d-764c-4b59-b90a-f16431865e9c phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b3f6a22f-758f-4ca7-a352-001ba7cd989f phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cab39aed-5721-4428-ac87-178f3fd3651c phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dcef3dee-1e87-44c8-8e47-ce690eca4f45 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7cdd483d-fbbd-4472-9c38-7e6af2a346ed phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8bf37712-b467-4443-a5d3-9bd61936c01b phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:83f5e01f-2f97-456e-aeac-74b09b8def06 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:98cecba3-564c-49a2-910f-87d944c8d039 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b37bb878-f477-4482-9854-224bd32dac01 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:caf23b75-5d1e-4408-b19a-d0df4d99f86b phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aef51582-cb8e-4ca7-b69d-2f318fb1e597 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5973f826-3391-464f-a9f4-b89b13546e4f phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5438bc55-0996-4a28-ac6e-11126dabfaf2 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0031475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:82960492-78d9-4161-a741-c36b5495f8d4 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:bb71875d-1ee8-4f58-92a9-5cf27d93e2a7 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7c86cc8b-e9a4-4cbc-8365-eed7f02bcd4b phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8fec1c6-6ae1-4cde-a5b5-8e36441bb965 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4a6c3e51-79b7-4762-bb1d-c64c57cc96f1 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f3eac071-3d60-48b4-bff3-308507c2ecf3 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:15dc114b-41fe-4890-acf9-f83bf6e0cde4 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4324c35d-edf0-4007-b8d3-fac1bc723294 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:765b3ef9-afc3-400a-80a8-bfce073dd53e phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8a8131ea-6629-4a8f-ac6e-44b7944465ef phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2f00c401-3145-4a64-b6f0-2a6ca0e3e5fe phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:059c8884-9982-42fb-8f08-851c4c5555ad phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c73c89ff-723d-4dcc-a09f-20053f5f5a42 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b82080ba-0351-4d8f-86ab-ca255e8597b7 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:53446627-cb40-4051-b494-7ae43839e6ba phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e4601020-3258-47cb-808c-3ad0328172b2 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:53b3a02b-142c-450f-9279-9834cce7dde7 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ee8fe10e-9335-4957-af48-a949d95c2d24 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7ed921f6-f771-4421-b21f-15055f3072d7 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d64c660-6938-48ed-9a9e-912088612607 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:00a7f9eb-0239-48ba-ad60-901d7a14e33a phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f5db5fac-3c24-4c1f-b90d-b2432da33c7b phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d54ff408-62dc-4852-9f8c-384a3bbd5215 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a953f8d9-bff3-4067-b517-184d9e2e06e2 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51a76b4f-d24d-479c-866e-0a294cf2585e phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e80b6382-303d-4989-affe-502d1eab2a03 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c6e30e62-1491-46c3-8dd5-8acfb7ffa009 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:11c93138-ecd9-42fd-8e04-c4440de29717 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:848e3925-2ccf-4c09-9ab2-7c5f134c42d2 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:904881c2-80ce-44b9-92a8-a78b0ea6667b phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a8f8c55-83b1-4bb0-bcec-dd9bcdc88f4f phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:412caf9b-591b-4f5e-b415-5a5b55305b58 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da97c983-b132-44d8-b864-9d5894a82a53 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:93db735c-59b4-4d01-88eb-e1aa726fa64f phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d93fe06-5000-454f-838c-509168028907 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3e5f4ce2-0fab-459c-84c0-10f24b9ecb3d phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:74dca6dc-3878-4365-9191-a061ad75b305 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:088e5fe5-9a4a-46f0-a26b-1a8c738e5b60 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:490b0ca2-cf2f-4cc3-ae46-6296369002af phenopacket.store:SCN2A.PMID_33731876_fam106 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8185ae92-3625-45d9-8ee9-52e9b12fdb25 phenopacket.store:SCN2A.PMID_33731876_fam106 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a127f5c7-c95c-4497-9f2f-0fc5db9817b2 phenopacket.store:SCN2A.PMID_33731876_fam106 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c89c038a-d6cd-4f23-8f93-a77edf75b189 phenopacket.store:SCN2A.PMID_33731876_fam106 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e9b6a333-ab31-437a-ac6c-8832fc149f33 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25d5e3d6-dd46-4add-9105-e4bf031d76e4 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd29e58d-d469-4d2d-b070-6354054aedff phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1e830090-e884-4407-a5a3-4c48ff3e2b0d phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:815bd574-e4b0-4176-8744-41ac6def2e57 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:70119a9d-52e4-455e-8867-65349d659f80 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f67dafad-ab31-4eaf-8d9c-299f06489618 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:53c01030-e784-4cb8-b783-70e51bc5cb0c phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3c2c1d6d-9a28-431b-88a3-a9ad9df44d34 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b8f4432a-aa6d-4192-91bd-72166323df9e phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6ab56dd1-3cfd-4407-94a2-356f6b456e0a phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:16e43e08-28a4-4cfa-8c23-fe7eeef20e0a phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c5ee17e1-78bb-4b4f-8bf2-32efc0628c9b phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ae3ef11c-d8e9-4950-9907-959141976537 phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:466a1b3b-1cdb-420b-b0d0-5b8510e93dfc phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ca70819-4152-406d-8efe-42a8ac5b56ed phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1f8d0a95-fc4c-44ab-89d9-929159750359 phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ed440648-6bbb-4e76-b2a6-4d473d3734b3 phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0034131d-3d98-413c-b231-57ba8b74a6e4 phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aef61899-b8e6-4859-ba6d-340e431ebd54 phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4efe61fb-f250-405a-b4b2-6bece4df8cea phenopacket.store:SCN2A.PMID_33731876_fam262 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:83943f8a-ce7b-4a2d-a675-29cddac053b3 phenopacket.store:SCN2A.PMID_33731876_fam262 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c56aa69a-c108-4a1d-b745-51f31079f90f phenopacket.store:SCN2A.PMID_33731876_fam262 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d5786aab-a41d-4cb8-8f3c-02af0508bbac phenopacket.store:SCN2A.PMID_33731876_fam262 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:34af9dac-c9a6-4649-b3d5-4c3a7aad481e phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f0b362d6-f535-4566-9e2c-801be0df8639 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7fa96180-aa8a-46db-ac0a-05badf26607d phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8bf7d9b1-c1aa-4c1c-9dd5-d652fad40fe4 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a71a7c0a-2199-4951-82b1-e7579c9f8467 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d2b74aaf-c958-4101-a9e7-afc19fa65e60 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1c415a41-2aa9-4f6c-aec7-64417cfe13f8 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:49942947-4728-4eea-9d43-55a0d1964a29 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e5608fbc-02bb-48a7-985d-02ca92f0256b phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4ea4c058-6ca5-4e2a-a2bf-09d61b937383 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8344beb7-c3a2-4cf8-b86d-4e8d4781e822 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0b45b2f-c4fd-443d-b5d1-7274f060e514 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e26cc69d-2d05-4f2d-b158-3a9d8afffef9 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:04d5b89a-4414-4153-895a-6303b27c8005 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:263e36e1-5940-42a0-a29d-fa3b3eab4dd2 phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71c9a8a1-c8f5-4487-9bc4-ae11b4b54280 phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51e7e185-0932-4a80-a446-5ecb98107cd2 phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ff489dbb-76f1-405d-b782-9077f6a593cf phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af4c65f9-e59f-4f1d-bbd1-b06be452d77d phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a02b313b-9ac8-44fa-8b24-e5562c4f9842 phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f1c9ca4-dcd7-4230-ba27-d6d83c2f99fd phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:19089636-3f49-459a-acde-e1eda4ea85f8 phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:21b48f9e-cd6e-4208-872b-c9763bd3eb2b phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d97faf06-c2c1-439c-b9ea-c869b7ccc48e phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fddc293e-5593-42cc-bf71-5e51ceac2e66 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2160ee36-2eb5-4405-aae1-807265370688 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0be128ac-32e0-4273-956c-8342e5771ee3 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40c503f7-a7fa-457c-a70f-482459558d8b phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7371028c-b947-4df8-af4f-9213f6c9a345 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ae894b5-a1d4-4745-90df-8c3f935bbbd0 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:88ae4c4f-8db3-4b9a-8b66-5e8ceb718a0e phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d078ced8-68e1-4296-8d3a-ff21b109bc8b phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7f36cf75-7b94-474f-af16-32d45b4822e3 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c9aadcfc-a343-4f7d-86f3-4fa6b29e602d phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e055a62a-0b30-49f6-b981-2b0b65874053 phenopacket.store:SCN2A.PMID_33731876_fam280 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0521cc5f-c10c-4f43-a237-68936f685d8d phenopacket.store:SCN2A.PMID_33731876_fam280 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ef4ad74b-5d9e-4795-b676-0ecaeadcb17d phenopacket.store:SCN2A.PMID_33731876_fam280 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6338fa69-c53b-4796-a114-2fd780e501a9 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc6e317a-df5d-48c1-9ad3-b9a30e9f6ee4 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fad29c75-a698-490b-8c9d-3ddad4cd5640 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0b7ae31b-c498-49bf-aba0-3b220f4b88fb phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fcb87806-1c7b-416c-b880-2858c83431aa phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f2b853f1-93c9-4835-bbf7-fc7fea7c8c7e phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3b839122-fa6f-49d5-b6a9-e136631f1f85 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b07c2bd4-e4e6-4c75-aeda-686b89ec7379 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c6d833e5-947b-4378-ae25-9548778ec1c8 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:461c121e-7443-468a-af97-37bf40377a4b phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:43469ed9-b010-438f-ae61-e8d2265fbd11 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:91b9af21-c3c1-4f05-87ba-48ce2ffe2d5f phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7b94e8a4-96e5-476f-bf7c-1583470efd3c phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b5e5ee7f-9ea9-42d0-a8ed-76c50f3f949b phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2de51e83-cc90-40e5-b742-e52a599d2c88 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0030d545-8480-46f1-bfb2-d6183bbb202b phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:057bb3d7-04b8-4023-a00a-41bfd1123416 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a4976607-8310-4e59-bddb-a268b98dad87 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0100786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7f5d313b-dc72-490a-b43c-e058938f9a35 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4cb1d481-8893-41ee-b588-15a6ad8d6ac5 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd2b0d4f-93eb-465c-a453-a760cdd0f0ed phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:11816d20-ccc8-4950-897f-4f52ac786a6e phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5970ef15-682f-474d-847d-8724c6ba14ab phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:02d9fe7a-857e-4365-8b6f-f8eaf138b839 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1eca74f5-d187-483d-addf-f2ae4cb0c800 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7277a8e7-536f-4941-a07a-85b5311c5dc4 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:44af0598-1b31-49ee-a095-f63928c8b439 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:79c2e398-2c71-4f98-8ec5-89aebaaa8621 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7852b3d9-0c33-441a-a18c-2f8218f6fcd4 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2059c215-f437-4551-bb37-f1ebe6453a70 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8618bd38-e07c-4200-819f-fb971cfff81f phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:23751c38-b42d-471a-a39a-c5382a01a904 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fd2b4d83-58aa-4d09-96fc-f373784b8468 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f4793690-46df-4775-a590-32efeaab846f phenopacket.store:SCN2A.PMID_33731876_fam111 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f53227d5-1727-4e9c-82fc-4b710cfa1688 phenopacket.store:SCN2A.PMID_33731876_fam111 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6850dbef-8002-4441-b497-95a633ed081f phenopacket.store:SCN2A.PMID_33731876_fam111 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5ec48831-3dcb-4baa-a092-061bebe2d2b4 phenopacket.store:SCN2A.PMID_33731876_fam111 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cab0c2bc-bdba-491b-b13b-15526ef70c14 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:adb72951-7e31-415f-98fb-0660370ac54a phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:92aa11ba-5503-479e-82e3-09ad792bb719 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:48dd1b21-9917-4d81-a03b-eda25ca922e2 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e5064cfa-2441-4f11-b3c0-1e67b51a175f phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8b070084-f391-43d3-8cb0-50a1366aa930 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:09c38f96-92e1-4b96-ab2f-584922f8125f phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3fd8dcb4-51c5-4112-976e-c7ea6769a812 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6fafec45-c29f-4a06-b232-248c832ff40d phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cb4546da-e7a4-4f2f-92c4-634fe3058c01 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b3827800-44fe-44d6-b253-bfeef72b543b phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:800decb0-0d35-49b4-926d-736562d95342 phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f2be4cbf-b676-4aaf-8814-d859824f3934 phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5973b217-4ed9-43e9-abcc-cb123473ade3 phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:877e7c97-c981-4ed0-ab5c-d4200bfbf191 phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c42c1762-86d1-4a30-a4dc-191fe01699ed phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:816aecf0-4f51-4adb-b82d-16cab3e035e7 phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3de07ed7-1371-425c-9a75-269bd28e3a28 phenopacket.store:SCN2A.PMID_33731876_fam121 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51e0fbee-01cd-4c57-80c5-73173129f269 phenopacket.store:SCN2A.PMID_33731876_fam121 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d3cdef79-cf79-43c9-8e9b-231fa1064409 phenopacket.store:SCN2A.PMID_33731876_fam121 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7ab9cc4e-4d69-4e42-a146-c689922a4df4 phenopacket.store:SCN2A.PMID_33731876_fam121 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e6e64088-6b1b-49f8-96ab-fe12582325ed phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fd8aa4d-b0c5-4cb2-803c-49eab569b294 phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ce1b1837-99d4-490d-a2dd-d7dabf6daae0 phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8351c2db-feb7-4feb-bbbf-385ac8ffa435 phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:92a8d31d-200b-4b81-bfff-2d063e69dc99 phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ecddeba-05f8-4478-a527-18d07de38c0f phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6efffe9e-bf4e-4e3f-aa8f-09c86aa7400e phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4f604e7a-6fe2-4ee3-8176-0062a9293f5b phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3828bd58-6257-48c7-93a6-89ed51f9e10a phenopacket.store:SCN2A.PMID_33731876_fam209 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0bf03620-d166-4ae4-9f1e-ab87fe7f6d9e phenopacket.store:SCN2A.PMID_33731876_fam209 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8c3f33b9-ea79-4971-8042-ddd4b50879ea phenopacket.store:SCN2A.PMID_33731876_fam209 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:221b1b4f-6064-4ff0-878a-83e6d086c5b0 phenopacket.store:SCN2A.PMID_33731876_fam209 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:23ecf800-c6b2-4be0-ab69-5c40d7feb07a phenopacket.store:SCN2A.PMID_33731876_fam300 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dbc87187-64d9-4b1e-bcf3-286a3298ed13 phenopacket.store:SCN2A.PMID_33731876_fam300 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0da45d4-53b5-4a19-a5e4-025ddf660fdb phenopacket.store:SCN2A.PMID_33731876_fam300 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0eab3e5b-327a-45a0-85c0-727675195e9e phenopacket.store:SCN2A.PMID_33731876_fam300 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3f8b80de-7bfd-420b-a856-a96cc1e102db phenopacket.store:SCN2A.PMID_33731876_fam300 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:338a0049-2c48-4cd5-ad6e-80e49986a7d3 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ddc0e3a-7e96-45aa-859f-dc9bd4247a81 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a194c284-f86b-4d95-9632-0acb0ae21995 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eaa3ff1b-ddf7-440c-827f-1bafd47ddcd8 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fd883695-3a78-4253-a7df-a3ce5dab6c43 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dee41ef4-4340-4774-a9e0-9eb8637f7fe4 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:af9d9c3a-c9cc-4f6d-8e6d-24b8f20d8ab5 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_phenotype HP:0005957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e9d1ec87-9fe3-4b28-b4fb-92931d274b1c phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ad63e936-f7a6-449e-a1d5-b2ce70bbfa51 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:82688ef1-fa28-421a-b69d-eaf82d8c2e35 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e14b180e-5e3b-47e8-bb75-148760adb0be phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:55256161-dfd0-4da6-95d3-d8b781de508d phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1df872d0-2d36-4215-b3e0-bac2199c5e35 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ffcd2be-e330-49e2-b9e5-98a1f7c6f095 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fb376dc2-eb27-4d7f-b78b-5199801c22c1 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fa68c5c-e292-4c10-b59c-1c745310f941 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f584a375-5e0f-46fa-a54d-dd612b9a74e3 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:78a97716-fe99-429b-b94d-6695f49660eb phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4be3297e-f6d2-4700-a770-ac73ecf61f4a phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:38d98cc6-f3c8-470f-b846-09b8763c12dd phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e93be469-32ff-4868-ba83-1f63eabb0c7b phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:975acb57-d4e0-4ec8-9a2e-63547270a51a phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8ac48ba-4c1d-4fc7-bd9e-d9eb11e5ec6d phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:58112bad-3d33-4fa5-853a-b824502df90f phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:76dc8d36-9123-48e6-af41-8cec32eb957b phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3f37e404-e021-4974-a3c8-ad10ae83e2e6 phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4fe7e48b-73ba-43b3-81da-a2db064c0934 phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a1fb1d91-c6ce-4f3a-9f09-86b6d4e5da0b phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f14498ac-ebf6-4c2c-9404-0aefd11124e2 phenopacket.store:SCN2A.PMID_33731876_fam346 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:511a2315-4800-4a21-89e8-e2f5ba41c39f phenopacket.store:SCN2A.PMID_33731876_fam346 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9c015c51-1e81-4b50-a396-47e0a0625cea phenopacket.store:SCN2A.PMID_33731876_fam346 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:07be8c39-c9a8-4561-ae2e-a6ae9c31b8ac phenopacket.store:SCN2A.PMID_33731876_fam346 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:833d5412-4096-48b7-9e83-23a6626f27ae phenopacket.store:SCN2A.PMID_33731876_fam346 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aa4e70b1-f4a0-4d63-90be-25bd1de44e2d phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0cc4bf98-700f-47b8-b789-47378a1a66b5 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26097a17-e468-4418-929b-0fa9c6f8fca6 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4923d840-9888-4db4-95a4-0fd02ec73d5d phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:717dd7b3-de1f-49b5-9d7b-d2b280e0bede phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9020f291-b9f0-4e2c-adfd-38b1dd928ef0 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:53f4ba99-ef65-4788-8dad-dcca30786ea1 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6e39332c-e713-4ca3-b45d-2493353a37e2 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:77d53b47-2fc0-42ed-b9d8-0a2303de01e7 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dc118880-d5df-40a4-81c2-2cbcdf47b09f phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6a588b5b-60cf-42c8-97d0-5228c9db07fb phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ac7e1b5-c3af-4761-a419-eb9bab2d60a4 phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26030f5a-37e7-4092-ad67-66c56ccf3f6d phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e814eec1-9971-44c9-84eb-077ebfedd287 phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4ebe092b-5510-4d61-8c1f-a5c74766194f phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6f1d7963-233c-45a3-b7c6-07c1a0a15960 phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4d9d9e41-b03d-4908-a3e7-cb7a9c426ea3 phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7650b954-c78b-4a90-b16e-f74369c2008a phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0002134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d74bfb33-b833-4f94-979b-da39a38d70f5 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d06f4d36-7fa0-43ae-8590-ad9403126a44 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aff71eec-d690-4dfa-a470-1708f022b84e phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8f292c87-2d5e-4625-a3d6-3467e2e99a36 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:648a55da-8d2e-4540-a419-b4bec4cc8b15 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ced7a714-24de-4100-9a0c-af3dcb865b20 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c94d3fef-ae0e-448b-92e1-95d2ea54036a phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:257241b0-7e34-4964-a2f4-ab69cf5638e6 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8ad6fd05-0801-4ad2-8b61-e90390ad404f phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:65f360e8-8e59-42bc-ba8b-2c49078da85b phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:67799ebf-2c16-443c-9e05-2b21a13c3833 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:19a51d89-738e-4b00-b73c-33d1b842ac27 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c1cde87f-485e-495c-933c-b65958ade37a phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5e7c599b-7041-462d-8429-6cfd5dd51b2f phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0010553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ba0b2f6e-6556-4b0e-b25d-02f9a320a70d phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:10b928ac-7062-44de-85a6-c65621a92d5b phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4ffa2767-cfef-4cf6-a37a-dd22e53bd3ad phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f495c79a-7293-4e53-bbcf-20a7ac76af55 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:abb06ad4-5c97-4a59-92a6-49250cf503d5 phenopacket.store:SCN2A.PMID_33731876_fam71 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:44cc106b-25b7-45de-92b6-238e49488cc8 phenopacket.store:SCN2A.PMID_33731876_fam71 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc89b869-751e-495f-9928-5246afb6bced phenopacket.store:SCN2A.PMID_33731876_fam71 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5d151fc0-54de-4d46-8bab-c0a8464b18d9 phenopacket.store:SCN2A.PMID_33731876_fam71 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b7534794-60d6-4ac5-9f02-a404a7ceba65 phenopacket.store:SCN2A.PMID_33731876_fam71 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5f1b7985-529a-4f9e-912b-20c0490d705f phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0002637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b1d2234-1e8a-400c-bf05-2cbcc539906c phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0005305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c023adaa-9078-417d-8e28-7a9ce8564392 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:96923ae9-0616-4906-9178-96d70ec35a08 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d31a111d-8c6f-4b1b-8b61-dc703553a6b1 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7799692f-f19c-46a5-b7c8-b292be0c00e0 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fdbf56bc-4319-4c67-aa7b-af5ef430c612 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8c016fbf-06a7-448e-8cbf-bdd15245fc1d phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ca7d86fa-1ab6-4e39-a2a8-660554e69089 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1d205806-2793-4e2e-a8b9-7b902e664f86 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:33214957-f855-435d-bc8a-e67a94c2c8ea phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:190c3113-bf08-4600-bba9-fc1d9c847905 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0000969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9d135c7e-1dd8-4e39-93ca-5f2d0a1e7d4b phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:385ec87c-fcb3-485b-93d1-917c18f6fd92 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ded985c-67a2-49e7-a811-738e31005715 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c80de7a6-f5e1-4f62-b964-66aed9881b8b phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9add7da3-8a6b-4d41-9763-23ed2be2a1f1 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c6f6454d-a336-4fce-ba72-e1eccb5bd37b phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d9301c7f-f942-4675-a3b9-e096f8e2a811 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_phenotype HP:0002448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:52ca0972-49e9-4e56-8066-d7f12c434bd1 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:040fd336-01c3-4519-8b37-f38e95449377 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:961418c0-8b3c-4fbd-b85b-2e972a5db665 phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a20beb66-6140-4662-b09d-fffd9189d09d phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:70dbac72-a7e1-4c87-8b16-9a7e8c04f89e phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:623d0b37-dd77-419b-ba9d-22807c9c91fc phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0c41d273-979f-4666-a8be-164eac4781ca phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:54eb23b0-31fb-415f-b88c-c3d501edf935 phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dfd62559-2086-4089-9128-c26a8d2e2bc0 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:30e224bf-5246-4541-ba58-343c9d60cf8d phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5032fd2-101e-4a0d-bd01-29d0868ef5ba phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b792556b-cf41-4d26-bac2-6c056f29b9e7 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:61b9ec0f-f276-404e-9f49-5b02d6333655 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1a4dbe41-fd00-4184-9026-1bd64f662d1d phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c5456f30-2a18-4951-901b-2e7b92bb31af phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16ed91d4-fd13-49d6-b3b3-23960d53c6a6 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0aafc216-67df-4268-9265-837c31277d27 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1bfb21cc-e064-4046-b530-c0e424589ca1 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:26081f49-90d0-47b7-9d30-6ec74757d0f2 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bd4317a9-1d2c-431e-b40d-4f6c79133352 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:240be0df-c8f2-4599-b177-79d9a094bbed phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:eb161456-84be-4e9c-808a-abbfe6d2c8d2 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:679501f4-6e77-4597-a8c4-e37c58db56cb phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:36454f3f-0a3b-4365-8123-d332ea0f1f89 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:70ef81cb-834d-4da7-a8b7-8a15f2fd1ffc phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bff5c408-68b9-44bd-9cfb-7e92776202f3 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:89188f35-d9fb-4dc7-9d4d-8180a1fe5903 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:894a610a-e1d7-4440-b469-65743d74eee4 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:904d94c1-a19d-4e4c-87c6-847177a5f81b phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aa42b091-ae18-49fb-bf66-24b391ca864f phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0002333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:11b08a87-99d8-4a9c-8a5f-1da81e971fab phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3ff5eb9c-b8ff-4dfa-849d-784ce6724b43 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c67884cf-98f8-48f8-b978-0745bfa802e3 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0005957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:6204f7fc-bf37-4fbe-82ae-b6aa7e19ca26 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4441fccc-b12e-4ad6-b759-8d4b5f955c9e phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e94c49d9-fb31-4b1f-87e0-19b528a511db phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8b3c55ce-4ec0-477d-bbe9-2ece54fb1310 phenopacket.store:SCN2A.PMID_33731876_fam163 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:54cfd828-01b1-4318-90f9-d04d88e86175 phenopacket.store:SCN2A.PMID_33731876_fam163 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a60bd444-b136-43ea-bd6a-acb16e4ada79 phenopacket.store:SCN2A.PMID_33731876_fam163 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:84d37a00-5ac9-4bb2-bf43-78b95409f16e phenopacket.store:SCN2A.PMID_33731876_fam163 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c866ed3b-5900-45b6-b1aa-fa8b6cc31def phenopacket.store:SCN2A.PMID_33731876_fam163 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3dbcfe5d-20b1-476f-b1f4-22811eb5c7d2 phenopacket.store:SCN2A.PMID_33731876_fam182 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0fa34d12-cf73-475e-86aa-f3283f699aa6 phenopacket.store:SCN2A.PMID_33731876_fam182 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:54b69077-fd4f-41d5-8813-d6a5fd3f306b phenopacket.store:SCN2A.PMID_33731876_fam182 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2509f912-0571-42d0-abfb-555f294d6e7b phenopacket.store:SCN2A.PMID_33731876_fam182 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b593481f-0751-45a3-9d5b-d8d3ba859226 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:62d3c6dc-65b3-40ab-bfe2-87f459da8908 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:329bb9a8-4a78-4d62-8e1e-b3074159c752 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a526641d-b366-4c5f-9705-5d00dd16e835 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0006892 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a81d6f0d-0dcb-4fe3-8531-6458c4af7d37 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:38a011b8-7efb-42f9-b904-5b3648bb2299 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25ee5b5e-0dff-4ab7-8ea3-225da4cc5e85 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a7260756-00a3-469d-8c52-9b5e48c96097 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0b3af003-38a9-46f3-a8bf-7077b0af781f phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:18bd921b-89dd-4381-b33a-c2b766f6e456 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c0064eb8-511b-43bd-ba6a-3e0ae438e925 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4290c424-b9a5-4e74-9252-2a103a08d4a2 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c42de28a-84e6-4938-95e2-f94e9909a08a phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:52139b76-432f-4920-baf8-49f1bc72752c phenopacket.store:SCN2A.PMID_33731876_fam254 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f78b739a-d8bc-4097-b00a-8e062f0cdc61 phenopacket.store:SCN2A.PMID_33731876_fam254 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bdb01ba7-1ddd-4690-8092-ee9b0fb67d2a phenopacket.store:SCN2A.PMID_33731876_fam254 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8976bc97-dcc2-4ecf-b812-9a4f85511606 phenopacket.store:SCN2A.PMID_33731876_fam254 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:32ac1cb4-403a-4de6-9c8e-4c99c929691a phenopacket.store:SCN2A.PMID_33731876_fam254 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bbe046eb-55e9-49b5-8100-d1e62ac57343 phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:00c0aa1b-3b2a-4432-b809-5fa2a2eec159 phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d272bbf3-7a6a-42e9-8a70-116fc77c3286 phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5eca6fc8-169e-4e77-88c9-30788bf82464 phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2b4adbef-5a33-4309-964b-cba2679bdeda phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:aee73651-4a66-488d-be60-77bf1248f624 phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c496c108-475f-4eee-9493-eb833b2e1a0c phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f0073a75-03ae-48d2-a16c-828c5c51e5c8 phenopacket.store:SCN2A.PMID_33731876_fam330 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de39f675-6a7c-4a32-a2e6-14a270c112f2 phenopacket.store:SCN2A.PMID_33731876_fam330 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ffad86d-85ac-4432-ac87-6299bb4d319e phenopacket.store:SCN2A.PMID_33731876_fam330 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5b194767-fcd8-42a9-b67d-1e9f30431480 phenopacket.store:SCN2A.PMID_33731876_fam330 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:40bb6752-687f-4d7d-9d02-6c863e57ac28 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ee8d576e-7ff1-433a-88c5-d49e616f34ca phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da0f76a1-a7d3-4296-951a-7924e97dfba6 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3b0f4ac4-c49c-44ac-997f-be30f41b0be3 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cad97907-a218-4a37-b2ae-7e59a5a9a133 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8cb05cee-4acd-4532-8417-9b33360fc365 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aeb0a709-f1d3-4f13-b9e8-c7d1ce1b231b phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:71003666-bb8c-4502-b8bc-5ce2faf42dd0 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:76f0bcde-f875-4ba9-aa36-d6e6e19cc3c3 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:371214e5-2b4a-4051-b9e4-ae0c47ac131c phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d2d57e10-97d7-40eb-9c78-b31dea7c3cb2 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8df5af6a-d9c7-45b7-b7fd-28764b8783d0 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:43da9f25-4635-4693-9047-d2728a4a1dc5 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cbb12ebf-2814-4a63-a15e-62bd52a5984f phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6e6e1172-1995-4f5a-8617-4405bd09a3d5 phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc859625-4d52-4954-83de-90b4c1f46367 phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc5f1901-39c2-4e79-9e42-6a5575001bea phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:557d1d36-43e5-4464-a520-b3e770d12793 phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:592bb8be-f8ad-49b0-8007-00cf330321c9 phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:72acbdfa-1108-4b41-943c-3773e795b4c2 phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea94d178-039b-4721-8bc0-ebf9081e0cee phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dac0a444-11bb-43fe-a0a0-ff5f686c4403 phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5e723307-f3fd-4c2b-a61d-600547046b7e phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2890c52a-5ffe-4557-aa84-5ab65180d2af phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6334a7b-b2e2-4b8f-b1c5-2f068327289f phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:550560eb-fdf0-48e0-a36d-acd87a208f1e phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd85105b-a6da-479c-b270-3303719764fa phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ae2c0d17-b377-450a-bfea-c2eb3d239d4c phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a5f6d35d-d2db-41f3-a2a6-4637a6b36dab phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7f4a2d92-cda6-40cd-a141-d8e998821b31 phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7604803c-b9fa-481b-84c7-bf1f376d49a3 phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4bcc13cf-1b52-4fac-9f86-2a8d50d5351d phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:65d2e907-dd91-436c-ad0a-3266126d9343 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b185e58-8a59-4904-a4be-f6e0b457b5dc phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:755bba87-ccca-4c9d-9c0c-1b3409ac604f phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1dedc9b3-dba4-451e-a0aa-d4890dffeaeb phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e6daf818-7924-4be3-936c-7ae440515f1f phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bc4afdf3-c8d2-4b18-9198-2d1308ef51b7 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0195e1ae-04a4-40c7-92cf-9f5dc6307a80 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6248d053-10c5-4981-9c72-c1b37657f912 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a9c371b4-3e33-4b00-969b-715167934daa phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0f068a9c-da0c-4d6b-a0d5-f4c3638f8991 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ee0ac8b1-a305-4d53-bcec-f5d75e805b06 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2284476a-32f7-4490-9553-26285efb75d4 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:10dcc9bf-acb0-4d19-949e-52d4162571b4 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1fb16e98-4f67-4e6a-b8aa-966a67ed2a31 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:31bca9ea-6995-4e51-b0f4-550d93a6a6d0 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e25bcb3d-b945-4f97-ad49-18dfec8e7ff5 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0e095c8a-a239-4b78-aca3-e4b076a329d9 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:349b3f72-62d1-4a55-bf95-40a798f83ab2 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2c451bb6-139f-4497-830b-6d0e24cdee19 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4eb91a82-e9ef-48e8-b275-d7ad072f6c0e phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fb47c0dc-08e4-47d0-99d5-9680cdb2d9e0 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:02ba7a0a-6bfa-43ed-b04b-e14ecd73b823 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d444c510-0096-4a3e-a530-ce83f2acc676 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:269d6c7e-ca44-42dc-b9fd-f1bb3b2e522c phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:732f558c-2aee-424f-9bca-f6645ff559fc phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91748eb7-84a0-42a6-adf4-84d725c32b69 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9cdb79fc-f2b9-4943-b50e-d7e75ee361f8 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:506da1d3-0b1b-4086-8e6a-26aa73da8c8b phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:86c7d85f-6aa9-4e43-8a1d-cc9d5e8188f7 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b28acacd-a48d-4b14-90a0-16e15520b4ac phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c9f92f17-a2ea-4faa-94e0-c02ac52264eb phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e6e682f2-34ce-4bd2-81dd-24390e4972e2 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8bce453-b92e-46c4-8d06-50f21884f9c2 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9aa2cb93-3d58-4802-910a-46e00b3245d5 phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:681c40ed-5450-4f43-831b-700664d17bfc phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6df7529-1872-4871-a6f5-bf26989e38eb phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f7c0d540-1cbd-44fb-b413-eb3c5c5e1a4b phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:afa586d5-adca-46a0-874c-2de8a18bcb70 phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1154b963-59d8-4ac7-a040-91d3d4b2b6b5 phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e4d27351-3e7d-4756-ab76-8bf164704ce4 phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f4561cc6-934a-4f86-b959-2de261f46b6e phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dee080e5-bdb7-4688-a097-9eaefad8e61e phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c338d74d-06be-4eed-b763-eb4db51c3c15 phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:905b9c95-e4a0-48be-b448-4a57afb32414 phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bd7f29fc-57d9-483e-bd26-42b15812c6b0 phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b0452e34-97f4-457f-910e-3dd0c0ffc01e phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:27396280-1fbb-460e-8507-9f272c92025e phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2f4a6530-51e8-46ac-8a67-320a39394678 phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b1496b77-929a-4541-990e-5e1f1ad677c7 phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0ea5073b-3f72-43d0-9c54-4967a767905e phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:59bd5635-d2a1-4352-8188-3e7d3be00dbd phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c78bd2ed-3482-47a3-a0d6-5bfe91a8d27a phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dc1b3c54-8482-4b26-a54c-a9416796e83e phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cf264d1d-d076-4819-a717-2599708d28ba phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4b468413-fdfe-4663-8d39-7fc2abb5be88 phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1e4dca41-9cae-4164-828a-86c7eb946273 phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0605283b-a899-4c59-b256-721ca81eb6ca phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:854d9a0d-dfe5-43a6-a2e9-920d9787d3ed phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2acf8e90-9e2e-4eb1-8136-d3584eaef506 phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d04689a2-3ea7-4ee9-9498-d41b497df2f1 phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e966a26e-df89-4af2-82aa-45c815b2c48f phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6a40eede-70bf-461c-9148-8137c50f1166 phenopacket.store:SCN2A.PMID_33731876_fam317 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5ca85c6c-fd8b-47aa-a592-3a6bf14d0d70 phenopacket.store:SCN2A.PMID_33731876_fam317 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9e3ccf54-7e75-4ebf-8e29-963f450a6e20 phenopacket.store:SCN2A.PMID_33731876_fam317 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f988bc05-278f-4627-9b33-c422f66e9578 phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e943246a-599d-44ab-87f2-36555ea2941b phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:aaf3f7f9-9841-48a9-a153-652ffa0c686b phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c0a0f3da-73f4-43da-a0f9-0f14feda1084 phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cdcf1de1-d538-4382-a964-98e166ea867f phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:05f57edd-361a-4904-a2a9-792c0a34130e phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5611f34d-7df9-4772-b599-297c28431449 phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0303438d-c542-41a3-b1fd-48885173847f phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:16a7b855-998d-4777-a7f1-e3badd62e6c5 phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:09cdb3cc-7492-4334-8533-6c901c997a63 phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:bbf0e1ea-8f1b-46a2-815d-21b5b0928d71 phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:59df06ab-fe10-457b-90b5-a0a6abca4255 phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e5568b60-b440-4d2a-8b42-b4c2d30ee01e phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aa75b93a-695a-4cb9-aaae-e9257d03ddfc phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:37a9c552-190c-4416-ba3a-19e0ee8a74b9 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1244f9b2-bafe-46c3-bc64-3cded7ab15c1 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:41ae0889-1335-47a9-b7b7-b75a1e9993fc phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:30090cc5-3057-4970-be02-5711f2e883d6 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:297ce928-9605-432c-bcf1-2d72ea1f30e1 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:adc020ba-9699-42f4-b077-2f39a9b3328f phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:f2b78387-52b7-4f21-99ae-c796849834cf phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c0b63013-d2fe-43d6-87e5-16ae0048f918 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:34f59016-0184-4d13-b5a7-1a8137f4909e phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:80066df8-6e21-4645-b95c-a3173c54d7ec phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bb0d390c-fe6f-492b-888c-89f44c27e858 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a7a022d2-4a0d-47bf-b100-29febcab1540 phenopacket.store:SCN2A.PMID_33731876_fam324 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c35ce505-1fa3-483e-9daf-21e8fc4b73cc phenopacket.store:SCN2A.PMID_33731876_fam324 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:90fe0fbd-a639-45ea-b6a7-09c4e266613f phenopacket.store:SCN2A.PMID_33731876_fam324 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:981edc1e-d63f-4c87-91f9-85086467c78b phenopacket.store:SCN2A.PMID_33731876_fam324 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ae3400a2-764d-4157-966e-a115b7bf87d9 phenopacket.store:SCN2A.PMID_33731876_fam324 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:216ab769-fe5b-4ac2-924e-20af2764766c phenopacket.store:SCN2A.PMID_33731876_fam351 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:262b880f-42c6-4c09-adad-3162c8dc8f0b phenopacket.store:SCN2A.PMID_33731876_fam351 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:de87a699-5f43-4b09-8256-a08bf69e23cc phenopacket.store:SCN2A.PMID_33731876_fam351 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:aa75c74c-38aa-41a4-876a-3b1ba6dfea4d phenopacket.store:SCN2A.PMID_33731876_fam351 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:856b8d04-e1da-4c00-9bad-0b7d0c1bb405 phenopacket.store:SCN2A.PMID_33731876_fam326 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:88794182-8e16-4323-808b-0cc9685b875c phenopacket.store:SCN2A.PMID_33731876_fam326 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03b04fbf-4c94-42b3-9e18-98e72076746b phenopacket.store:SCN2A.PMID_33731876_fam326 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8c4b96d3-31af-4e55-830b-9e6e13aef7fe phenopacket.store:SCN2A.PMID_33731876_fam326 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a6d0aa76-5443-42ce-8a9f-d1aeaa2219ac phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3a1f48b0-e997-4943-b560-1f32ef2479c8 phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:07c8f7c7-49a8-487b-995e-8d904a88d21a phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0c851f96-178e-49d3-9ae4-654c8ec25a78 phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7c6e6aa2-1591-46f2-b3e0-213cba503aa6 phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4e57778f-ec5b-4c3d-a5be-f83cbfe50583 phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7f8b4b69-0d5d-42db-afcc-bb4112506ebc phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9e4d5433-c588-48f1-8dc3-73cb62059a1f phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9afd2d33-7b76-46a3-a558-fa50bcaf4136 phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:233cefe1-eaf8-4d8c-8eb6-4a9c2870c67b phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_phenotype HP:0040328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e0f1f89d-6dad-4208-b5af-c10a61380439 phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c083d75b-49a4-4622-87cc-fb844a9b3d7b phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:0e93916a-fb48-4104-8659-4322c28bcb19 phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:24f56420-0ae4-4e6d-851f-6cc2fa125b65 phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cea0b348-0751-4fdc-8d9d-13cb43668b86 phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:731d70cc-c772-4127-9bac-28b2751b6420 phenopacket.store:SCN2A.PMID_33731876_fam79 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2593ac85-cecb-4c33-a309-657544d5a8e0 phenopacket.store:SCN2A.PMID_33731876_fam79 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:15a58bfa-f33c-48b5-80d6-31628006f6f0 phenopacket.store:SCN2A.PMID_33731876_fam79 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:5f2787c4-a64a-417c-a39f-88a8729ce417 phenopacket.store:SCN2A.PMID_33731876_fam79 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dfe00894-1fd2-431c-8d79-a807b9f064d2 phenopacket.store:SCN2A.PMID_33731876_fam79 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4ac0f4bb-8b18-4ef9-9cf9-d4e8f3c93c11 phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:885a07c1-adbc-42ff-9bdf-8d69424cf5e2 phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1de51d76-37c4-4eb2-839e-41ccbd14032d phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3be4b4ba-b62f-4428-a72e-dacacf6d818f phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b9d86514-8a82-4441-81a5-72a34bd301de phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7a9db7b1-ce78-440e-8d6b-6699d7622d39 phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:54765367-9963-483f-ae11-f1d998e35094 phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:485ca241-2386-468a-9c1f-efce3dd97acf phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a1dcb7a3-a989-4d23-bb19-065f197371ea phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1c94c36d-4c36-4c20-af53-bebb04370424 phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3408bf1d-9eac-4b2e-8a1c-91075d62a5f2 phenopacket.store:SCN2A.PMID_33731876_fam195 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:48aa9a3a-d440-43dc-a816-19979fec172e phenopacket.store:SCN2A.PMID_33731876_fam195 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1538eabb-04aa-4f50-9d0f-3940c32ecf6d phenopacket.store:SCN2A.PMID_33731876_fam195 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c542321e-597f-4c37-9439-6ce27059ba2f phenopacket.store:SCN2A.PMID_33731876_fam195 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8ffdd58d-2483-4d70-a724-c2d9be5f5f46 phenopacket.store:SCN2A.PMID_33731876_fam195 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:4a3fed32-f43b-42bc-a05c-a0c703469156 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6c398ca9-a9aa-4551-9f40-b6f654467412 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:42a41c35-4b05-4e7e-b3df-583d9642e956 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:24e8d3c7-42a2-4c19-985f-59d7b570221d phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0012013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dd016bba-d31a-4aba-bd50-0faac00aecad phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6856882e-b5ef-49b6-ba43-9227f1b4ec19 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1567b167-c2eb-44ed-a9d0-596c30a5a7fe phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e29434a6-2230-4919-8b3d-b8f339ec345c phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0e466085-ac5e-42d2-a02c-90a308b661ed phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:09582183-8be8-4205-8fd9-47d78eaa61de phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:af3494a2-dc2f-443f-84a6-98f3198289b0 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9054bb47-8bd2-4d38-9cbe-80c12630a0f0 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:fadf0d49-c88a-4ef9-a22a-df05e7868c16 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bb61bcfc-1e32-41b9-93db-40cfa6d36f83 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:17e8e57b-f595-4b92-920f-d7d632b8f25c phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e737b2af-d0a3-4e1c-937b-1f689a951ab4 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bc0b1167-d098-4ea6-bc03-1eb4fceded0e phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:92c82979-002a-47a3-b258-462ba59acd06 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:70d643fa-f7bf-4fe6-93d3-486317c557b5 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2208e8ea-f97e-4c2d-96d0-5634b0fb687b phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:507422c3-12a8-4fea-96ec-01eb80ac5203 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:70fa1ef0-0e47-411f-ad16-170ac07348c0 phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:630ac5a8-cef7-4157-951b-ac51259bf03c phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:63c31e71-c25e-48cb-9d13-ad766117104c phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:43216d16-3fbf-4026-b690-ca3180b3e151 phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:c3c21ef0-fd50-4b65-9029-ed0b03b85c07 phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cb5c71a9-c18c-4b56-a7af-b827a17cada8 phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:191b0ce3-50fe-4e20-9949-cafead19a9d8 phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:28cf545e-fefc-4d23-93ec-b9f8f7da5f0d phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5969ea61-575c-4b3d-862e-8463d0fef52d phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:98ef7756-e44d-41c3-ba35-207e0755a379 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a8dce07b-eb4f-4cba-9a94-e443d3831efd phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0010844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:df20f881-5027-4788-8b79-3c169d37cfdc phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:04967826-0e47-4481-a663-dee74b0f5e8f phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6a31db75-a560-4a10-be7c-bcddf6c4e9a5 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f3f5607e-c79b-4a81-afc3-2892c7f3b41c phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7162db99-5c89-48eb-95ee-76043230ee55 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:881887a4-e075-485f-a720-8276cf054863 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e1fc410a-c9a9-4c37-8a9d-6d46f46c7e4a phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:045e4a2e-8b24-4711-ae8a-12ff1aa23bf4 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0040288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb6dcc3d-be34-4e92-9a71-e54bff8f80d3 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2e989823-4635-4a1e-99ce-7e84a5ca565d phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f9fe9e40-b3ea-45db-bf4b-64171b5594f5 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:f2ec4b07-3a7c-4569-b9d9-174b70d340e0 phenopacket.store:SCN2A.PMID_33731876_fam264 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d4b19f13-d7de-47c3-a27b-bf95b914d09e phenopacket.store:SCN2A.PMID_33731876_fam264 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:974da78b-11e1-46ed-80aa-c0759e5ec172 phenopacket.store:SCN2A.PMID_33731876_fam264 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d8d41814-eb44-4157-9863-32227ad12eaa phenopacket.store:SCN2A.PMID_33731876_fam264 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0c4c0ac0-2b6f-419e-82a7-0d8ddf1ffa59 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a9c884c0-fd26-475e-b5c2-00f323331006 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9fbc43c0-f4c6-4133-a50e-dc41df4e858b phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cf79c39e-379a-4411-8dd7-1a3ded2b1a83 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1305d2b1-4b4c-40f0-ac98-d0f6ab791316 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0353bbbc-6bad-4b05-bceb-188eb789d94d phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2cbebdc5-25fa-43b4-9fd4-b3373d5d7ac2 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ea2baac-ee6a-4c48-b1b2-4847ab8ff2ef phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6a63e49f-293e-4eea-87b5-c3f47ac453cc phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b93cad04-0d90-4a64-bdb7-69896b6c8684 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7cb3f2e3-5cfd-4167-ae98-acd00447300e phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:59c86341-461f-47a4-aa24-52505fc898cb phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f1805b45-4526-426b-903a-b7f550af71aa phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a868d081-2b6b-4874-8c68-b763c44f7bcc phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:224ed938-7ef3-47b1-af6d-52504d079055 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ab8d538-a53d-46de-9ab3-5b9ea5ad14ac phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8274d77-1f8d-4e04-99cd-3e7e357c00b6 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9728db5c-2744-4d73-9646-7c2b7c22ea50 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0030215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b08c00ae-b661-4d3a-9c2f-dbf016e037d4 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:292d7403-c8e5-48b0-ae17-2859ce874459 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c9a0bbea-1161-4861-8caa-e50f95aa8470 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fefd1a42-9a2c-4840-9060-3a7ed411f954 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1a373720-95dc-4f86-9e98-15643712e14e phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2983018a-1aa0-4b86-b3cf-e7a26f80a63e phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dbb92a7d-b892-4150-a23b-b9d96b731e43 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e6aee022-5c6c-456a-89f2-b4ff251826bc phenopacket.store:SCN2A.PMID_33731876_fam380 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:af4af477-2db6-481f-ab25-9e43c584ddf9 phenopacket.store:SCN2A.PMID_33731876_fam380 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:bcc4f3f2-d07e-477d-905f-576c18eab458 phenopacket.store:SCN2A.PMID_33731876_fam380 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:97950cd6-7662-44e4-b128-2ebefc484366 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9980e970-8ed7-477b-ac48-86c37596ea88 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0100022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:727011e4-4110-4352-bd2a-56cd2a3a0a6d phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:87c03895-c000-4a49-a493-d154fce356b7 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:729f5826-b6b7-44b2-baf4-3a36b34659d7 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:816b284d-6106-4235-8fe5-365bc00991da phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:124cb95a-14ca-4202-9ac9-619132e63668 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:947b3b68-7660-407e-8094-ea9ce57a7bac phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c6e764c8-0f19-4389-aa45-01b9c24a4391 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7e0af31f-6523-4257-9dcd-72b14ced8843 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:40169042-59a0-4d84-ab15-4a7ee01308a1 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:94dc639b-ab5d-449f-98ce-6689621e6430 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cba78439-40cc-45ca-96ee-c82169eee1a4 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3d01233e-6bba-40fa-9148-a808eac0b4d6 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5c36e7a4-6e94-4e63-9cf5-5f901adf21db phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4ed41833-ca8b-44cd-b9d6-9000852879c0 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b715cbe8-5530-4d60-9616-6d7d9f3611a7 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c63f0035-5f98-4f9a-a1ca-44c07e592e8e phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:20d4bfb7-3e31-40ea-8435-35096f49dd39 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:49f03d44-e61d-4b31-a0d7-94690ee1ddd2 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0002167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:42898730-ba85-4ac6-846b-1f6fd0c5db00 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:131a6dbe-2e51-47d0-93ba-f75fff09a6b8 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0f88aaa-c86d-4ecf-a862-b7af52a48df6 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:255c06f5-eb49-47af-a730-ab78589575aa phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a68b548-34a5-40b1-9410-c4a508a79951 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:010d181a-7710-4c22-aa27-dbcfac040cf5 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:271ab1e2-5a59-4899-8c79-5649640d21dd phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:46f497ba-de86-4487-a202-d389eac5f667 phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:192e7f47-e4d9-453d-9aec-93d1c3c7e86a phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:caeff653-3b71-48b2-a3cd-f275d59be5df phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b3f981dd-1888-4921-9dab-194f451307ab phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:231ad32e-4db8-49fd-8fc1-0a64a0493fe8 phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8e7e62c0-75d5-4ba7-ab0d-23d25e9a8bc9 phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:8e6c0fbf-cca2-40ee-85ee-331810c1aaa1 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea051ba3-984f-43b2-a1cc-a2e42a51e156 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2cf7c209-3ef0-46f1-8984-9b3e70b2177e phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f231e14a-6b4e-4f0d-83ad-0d6bf7a700f5 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c3f8935f-be20-4763-a91e-20e8f3a58fa1 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a41fc081-40b7-4a09-9efc-8526599108a7 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e9b091f3-6683-4420-b04b-5f9e03804af3 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d600ba4b-2b00-46d9-8b01-9def71f4c018 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:876676e5-8388-489f-8cf5-b33e0e9834ec phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:279d2847-0d31-4149-9bb6-28f230a9fb4e phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:666942db-4e7c-46fa-a506-5aa3509aae1b phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:22e0d917-f5b0-4f4b-9f61-f2f0a62ab386 phenopacket.store:SCN2A.PMID_33731876_fam193 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:eb87d794-9d1b-488a-83b2-a4bddcb97a63 phenopacket.store:SCN2A.PMID_33731876_fam193 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b3c05645-1465-4ea4-a163-4366a1cdf83d phenopacket.store:SCN2A.PMID_33731876_fam193 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:78c7e0f0-4097-4458-a732-dfc6be6d79a4 phenopacket.store:SCN2A.PMID_33731876_fam193 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:7743c1c7-3d9d-465d-a47a-53768b0f6bee phenopacket.store:SCN2A.PMID_33731876_fam192 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d5ae2f9d-4723-437e-976c-566d17d13e66 phenopacket.store:SCN2A.PMID_33731876_fam192 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:69b1ce46-f169-4e98-91e2-ae71411f9468 phenopacket.store:SCN2A.PMID_33731876_fam192 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ed641527-a451-458a-9b9d-16b105582d15 phenopacket.store:SCN2A.PMID_33731876_fam192 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:6f2de285-5b11-4812-889c-eeaeceefa307 phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8b40909e-b9e6-49f8-863a-49c6aa23e50c phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:adf746c7-26a6-47d8-b050-d852e2f836d4 phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:281c94de-2171-4405-9c41-5f021c3a12ca phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aeb29c2d-25ff-48ac-9862-15aefc74ac5c phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:775fcca8-27c8-4bdd-acb5-5766d86d7b1d phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bf747a77-a70c-4d34-b764-624c9760147a phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:52e02c88-13c1-4630-aea2-8262589413df phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c8073758-881c-49cb-ae2b-4a64d20296dc phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4bac5566-83e4-4bd3-a745-d563f31cbd72 phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cc03dc22-f90e-449e-96d6-f3aff598925b phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8a4eee1c-430e-4d8c-86a7-fad4ea420837 phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:df26f37e-0ca7-4d99-8184-425d8eff2cc8 phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:89ac4f0d-c43e-4078-9c63-b62b231f889d phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0011210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ea5a25a2-03de-4aad-8026-c7346a68a17a phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d6157e55-7cb2-4511-98b3-5ead6fe44c95 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:127f7245-2699-43cc-97e0-517a8d54e8ec phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6178bcd7-9175-472e-beb0-2e1c83236921 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b1c2433a-73e9-416f-8a89-9d6ad277e71a phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:39e82324-9ad3-4574-97c2-edd0a59adb61 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a6e4e87-eb50-42b4-9f97-204ade1007e4 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b7ead272-ce03-45c7-81cb-32d94a9a57c5 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:4eaa4e82-1d07-48a2-9929-f8ac9f127fc9 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2531b297-ea1c-47c1-9c07-7e3548ce43a3 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9b20f21f-46df-45cb-8c22-cc6b932f58f1 phenopacket.store:SCN2A.PMID_33731876_fam196 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:19b7785b-9541-44ee-8a55-47780c1e86ff phenopacket.store:SCN2A.PMID_33731876_fam196 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2c46980d-9426-4f10-91b4-f635e69aec48 phenopacket.store:SCN2A.PMID_33731876_fam196 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:bec50105-a8a5-48ad-9683-e7a7ac8b80d4 phenopacket.store:SCN2A.PMID_33731876_fam196 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b7b123c7-7279-48e7-92ad-48b106312281 phenopacket.store:SCN2A.PMID_33731876_fam196 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c40a1f10-d07a-4663-9b10-7f9492ab15c8 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b9da3999-5290-4ca1-b7b1-726c2fdee434 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:35614b20-f0a3-4254-ab08-ae38cceb10e9 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:843797cc-5e40-4082-9105-c1c8ef426364 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c60c5b1b-cd87-49b5-ab8b-cadbf63f5ce0 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:01d8f44b-f679-425f-b0b8-2313a1c0bd57 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:892719f9-e53f-4e05-99fe-1a6b17359fba phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:78ee6b72-77ac-452a-af52-29d81f20a853 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9dd7b48e-12fa-42cc-a39d-73258a39da9d phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_phenotype HP:0012017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d92eb6b6-3cba-4152-bef0-74c0b30a0faf phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cf2f1019-27bc-417c-9c9e-b96716e77792 phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bec74d9c-4309-4a77-95c7-a83fe564d00c phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03c2b47c-e490-43ab-bc85-50cac06606a6 phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3a7535ed-d0f5-4028-bf87-fd80b183e980 phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:30bd0801-81fc-4f68-8730-5647a91ecfb7 phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e5c0282f-b3ae-4894-aa0b-cb5c53ec239b phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d384955f-6f8c-42fc-b791-e12e060501ce phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bbc764f6-d87d-494e-9e10-6d2c7aa5fa89 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4adfde0f-f631-42b3-89de-679325c53e71 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ca06a8b2-481d-44da-82b1-72098ef45186 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d973afa6-7bcd-4a39-bf5d-79e599f242e4 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:268755d5-ec0b-4af7-9311-5736f863ef0e phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1af8745f-0bd3-4864-8eb1-77d723558789 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:567a090b-f320-4d52-8f97-7d18ee259b25 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0636e0ab-b617-4fa8-93bf-d3f3e962007c phenopacket.store:SCN2A.PMID_33731876_fam143 biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:213e6191-eb9a-45a2-a16e-819efb6f1e77 phenopacket.store:SCN2A.PMID_33731876_fam143 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:893e238c-9501-493f-89fb-acdc32d3512b phenopacket.store:SCN2A.PMID_33731876_fam143 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:23efb14a-0772-40e4-9dfb-82a937fdc4b7 phenopacket.store:SCN2A.PMID_33731876_fam143 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:597c389f-e53e-4c72-9efa-e2f6908d3230 phenopacket.store:SCN2A.PMID_33731876_fam333 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:faebd2c7-7b1e-48a7-83a7-c8e16d7e38bc phenopacket.store:SCN2A.PMID_33731876_fam333 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7b9df938-cae0-440b-9e1a-399f84651853 phenopacket.store:SCN2A.PMID_33731876_fam333 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:98fb2e60-0d15-433d-91e3-6235607a16e3 phenopacket.store:SCN2A.PMID_33731876_fam333 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:20bb256d-244b-4dd0-a535-56ffed03477f phenopacket.store:SCN2A.PMID_33731876_fam333 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d7ac50cd-5678-4520-99cb-39e7a564912e phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:951f1d20-4c7c-4dbf-9d0a-37fa38cd5317 phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3d74a284-f818-4f44-a37b-4b5b47c73ec1 phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5b38cd6f-365f-40d5-8a6f-5f9a5ec368ad phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e374153b-e7d7-4ac0-bd5f-140766ea7e31 phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5667297e-f85a-456c-9470-b5130a201de9 phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:16e48ac1-08e3-4017-85f1-d8cad6bea90b phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9bd7a49d-e916-4d68-919a-f4f4ec2bbeeb phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:55a70701-d7ab-4374-bad2-dc082d3cabbf phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5aae7464-a326-405d-8c5b-10dd3d22f307 phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:965cccde-9b14-4315-b01b-78fd05edb62a phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3ac091fd-114b-4492-85e1-f1a873985ea0 phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a41de4a3-05cd-434a-ad61-0c90d052c05c phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:350d4175-bab2-4707-a523-64260bc23748 phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c6be5d2a-ba9d-4f73-9e52-b1715249867a phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:dffcd55e-b036-4f94-82f1-ecc05e926f5b phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:97a0ff64-5f91-41d4-b351-05acf81503f1 phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b4453db4-73c4-4a59-a1db-23ea7b728d29 phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:783d69f1-50ec-44ab-bccf-85b6e41ca988 phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fab46ed2-06f0-4327-a5e0-e6da94c225f4 phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0ea5692c-3539-450b-969f-9bf6281aedb9 phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:b4d3daea-0f16-4341-af2b-f7ee35bb1daa phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:546e2179-e95c-41d4-b54c-717f6bf3e462 phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:9bdf591c-25c9-4b28-9f7c-3c9f00aabccc phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fda1e86a-5e87-4fd2-8dd0-88515011699e phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:2ecc1f9b-fbc0-4849-945e-3d0b018ad03c phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:474af30d-1c6e-4786-9444-89524b0dad15 phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e960b2db-0317-4d03-99c8-3abc3640efc6 phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b4208f0f-1bdb-4b9b-baba-affa9d420768 phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0040328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f0d76653-ac95-49c0-9365-20d0065376df phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:f116d7e9-fb31-4a81-bc59-eeae08921f1a phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6c987976-22be-4042-a267-77af35ffd129 phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:540bc91f-48b9-4de6-bc4c-b901f1b5286e phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a0cdcb67-d71c-4e42-8134-6014fefdd66f phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1c3bd2a3-02a5-4875-8070-d2f13e873c55 phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:3ffbde09-2def-4755-9f9a-c204559867f4 phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:a985c5a1-4d7a-467b-a1b6-8edd3092d0cd phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:12ffe858-ea4b-434a-8062-d1d87c461bf5 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21a397fe-cc55-4f1d-83fc-902c72d69892 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:36ea7d7b-f80f-451e-b10b-3a8afb1e7ac9 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:147cb4e9-89c7-44d2-b0fa-bff2e6d3a451 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:47b3997a-3258-41f8-9bd5-565d4b085d1b phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d10e40b9-061f-46e3-899c-20ed448b6700 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:350105e1-d31e-4246-a86a-638b65f54b35 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:fc239773-5c2f-44c0-8839-41b77314af15 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:8b734a15-53a1-4d30-adc7-2dae5e7d6f2b phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3ab65ef4-89f4-42b9-83c9-b7f79809be32 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:9bea859d-d32e-4931-a6fc-100afe9fdbcb phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0f5bc1ed-1d3c-4c7b-b585-e9d22aa092bb phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0b132ce4-787e-4a8c-a8f1-b7953cb56399 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:bdf00475-3e5a-46c7-bd2a-666e5c13c448 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aee61c7e-bda4-4923-8113-48a6b898d82b phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:91323433-6fdd-410f-b99e-f69a068e704a phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:51820953-3190-4cd1-8a95-ba7b183a7c90 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34912774-01f5-4655-b33e-89953d77a7ef phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0001269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:76cd83af-294e-4ab2-b388-a3fb31e7c4fa phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:25b5a441-5083-468c-a0c1-61d342febaf3 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fc7a81db-b749-4ce0-8556-deb4827bf2a9 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:da1fffb3-a880-44a5-8e47-9c048591aac4 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:34dad9c1-67e2-4d28-bfc9-baaf0a526892 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:18f912d0-a2f8-40b6-ba61-3326bff373d0 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:33737bb3-c77a-43b5-b52f-2cc79740f4c8 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:532a60fb-e811-4ac9-a13a-52480cef56f7 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:d43a2a48-f971-47ac-840a-246a997d1272 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cdb59868-5ad9-40fa-95fe-7a3901fdbd28 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:43b3c5d6-a4fc-4b2f-b2e2-db8d4f571769 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3af22519-9bc6-4a7f-b760-66aeda5ca349 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fb9048a9-f39a-4b79-81aa-3eea264ed443 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fa162317-fb94-4dcf-b473-90b649bf92cc phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:d126ecbb-a1c9-42d3-b58c-80745a822269 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3eaf0ff0-1074-4d2f-874f-67e3efdc86d1 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6706adf2-05f5-4192-85b8-3ba83a4bd68b phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8e79db19-1259-4911-b8a6-592e7e812ae8 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:69da23c1-6932-4f90-a4d0-966e6e6b0c83 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7e10cb50-68b8-47d6-8ac2-f0fd71422632 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:cae13d58-dca1-4028-a478-59eeb942eb56 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ccc3b9d3-b4bc-497a-808a-3db112cefb4f phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:de8657ee-2a12-4559-9fa4-1d0d93e61cad phenopacket.store:SCN2A.PMID_33731876_fam166 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6f2299b5-e94f-4a6e-a691-26fd721cc8ca phenopacket.store:SCN2A.PMID_33731876_fam166 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:83e9d624-17b3-4c4a-819d-97c01f58f665 phenopacket.store:SCN2A.PMID_33731876_fam166 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:27d6d9a4-f398-459c-94ae-0732236ee847 phenopacket.store:SCN2A.PMID_33731876_fam166 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:b6b55601-d186-4c76-b3b1-0ac73d8d1a3a phenopacket.store:SCN2A.PMID_33731876_fam166 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:23bd0c7f-bdcd-4d76-92b5-2111298807d9 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:59fb6539-443a-4409-a704-81f43e8f945f phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:725cff27-9b5b-472d-bdeb-f478db5d1273 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:290d1d75-69ad-4a7d-aad5-5731282c5a7e phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3f1b86fb-d12e-41a0-8e2c-db8521b05427 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c43d3c1c-4630-42fd-ac4c-7e9f4fcd7082 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:600a69e3-83a3-415e-9082-050186317ec8 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2039f956-5640-4fac-b5a3-1c61ca94ce3e phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c540bb28-f15c-4856-b452-5f2c920b8438 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2b4d6c8d-379b-41a7-8219-862442fa28be phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:06346ce3-ebcf-4450-84c1-0e62082c878b phenopacket.store:SCN2A.PMID_33731876_fam600 biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e07ca7df-0447-4738-aa24-1de7064c271f phenopacket.store:SCN2A.PMID_33731876_fam600 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6b70a7a9-6c30-4114-a09e-52339221aa0a phenopacket.store:SCN2A.PMID_33731876_fam600 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:d2363824-1da9-45e9-be45-75a34090d7b9 phenopacket.store:SCN2A.PMID_33731876_fam600 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:ad04398b-6499-498c-9436-ed15452179be phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:3ad18215-bc7e-49d9-8bb3-618ecbe3d63f phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1fb07ec5-92f1-4325-83ad-e0955b9536e4 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e40d60f0-b234-4e1a-9078-9f4abdaeb9e1 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:21160e3d-6302-49d0-a7e5-3a75bf8d2095 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:56498e26-32b9-4733-a761-8e4d732262a3 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:0d6d4306-3d52-44ca-a068-c263a2132a20 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4894eab6-8205-4403-828f-1e8291a6d27d phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:41dcee5a-0c8f-4752-866a-9cc4759a4c67 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5a837b81-159c-4105-9642-0fa2badbeb84 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dde1abc6-f2de-4e11-8e2e-9dc5c746248b phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e82c097c-53ac-4dd7-92c6-6f9a04da5e48 phenopacket.store:SCN2A.PMID_33731876_fam148 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:aa06a8fa-abd5-4b02-85c5-0bc8172b98af phenopacket.store:SCN2A.PMID_33731876_fam148 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e5ac8d06-e897-4dd7-b4f3-d75b7a9c811e phenopacket.store:SCN2A.PMID_33731876_fam148 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:3d5cfcb3-bd09-4199-8bad-8e5ae4df8dbc phenopacket.store:SCN2A.PMID_33731876_fam148 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:41498021-7177-4fbe-b397-76ff22373512 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0011294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6ce843d5-fb2d-490d-9b96-a4dd6628a1a5 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:01417185-1c8b-48c6-b094-2861143a291a phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:15ba893b-d505-416d-9eaa-13c10ec4f70d phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4d578669-234e-4679-8c2f-01efe7bc7533 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:99d0c408-4c7a-4f29-96d3-c28e96a1f5a8 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a81538d9-cd7f-4d32-bb99-0d2149bb5a54 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:bd52de84-982a-4bfe-b9ac-9da6f2e58c11 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:93544028-5fe1-41cb-87fa-a804e93ec4d2 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:0d8b53f9-ca3a-4af1-8851-a5518d32502e phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a5bb562b-61fe-4c93-93ee-79460d8ee3a1 phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c40c065-c6b3-4382-b7ce-021e26b732f6 phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:65b53f3e-f723-4449-8018-89c800804ddb phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2c69cbc2-94e4-4e8d-ad5d-b67d4bcd7cdc phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:53bcdb57-a5ba-48b5-ad28-0aa54e477820 phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:5b1efc87-454d-4769-8cfb-514808b478fb phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a2a797d8-6369-406b-b89d-845f626679f5 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7122c183-6cdf-43c0-b131-911cb791a3e1 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:5ad7aedc-eb58-47df-be33-83c146cb1fcb phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b547916a-14fa-40b2-bd79-a54d9ede0578 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:7d144be8-bba1-4842-b88a-774de3575feb phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e44e10e7-cbf5-4a39-baae-c0b3b07abd5f phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0011290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2193aa72-479e-48a0-b235-269699e8f478 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:6d3a1fb5-459f-47f2-bf77-8c537cadaeb3 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9edad3ee-f5de-4c23-87a7-5503fe7ef36e phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e177a665-bddc-4b13-a6a6-3c9e3e6ea1c5 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b94a3efb-3c9e-451f-896d-bbc5bfb43628 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cd4439e5-d565-44cc-b584-614fa7851b42 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9a457ac2-de48-4dee-aaee-5c57b3f1f86d phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:fadd3f70-f57e-4da0-8a82-61e575700fd2 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:e8d68e65-a082-4069-86fb-2fe371a4d7da phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:1ad76c35-66d6-46f5-911f-1f7c5a6a29ca phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:4c082473-a909-4e4e-a40d-7e0b5baaf59b phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:9eab6d2d-d586-40b9-820e-6b7f5155fa73 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1761dd27-0ed7-4e8a-9a57-2fd10fc2870b phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:1ef9bec2-5d7a-41ae-8240-951876e9144f phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:dcd64031-5340-4a04-b331-e93430b8929e phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:2d04c770-22a0-4e51-adaf-48ffe062945c phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:8e25ff1d-c342-4d52-99e2-63d3ebc056bd phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:89a6a2e4-b73c-439b-99a9-bcd8553a13fc phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:7af2714d-a288-4d4e-aa3e-f276d89b6bdd phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a3512377-daea-4944-91b2-081f3e373409 phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_phenotype HP:0012759 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:e0d77dd9-06c8-402c-90e8-2ed6ffa971a4 phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_disease OMIM:607745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:72ceb166-2d1e-4014-9f10-fee84c0e2057 phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:cbe6397a-114c-4994-9adb-90dc979f24cd phenopacket.store:SCN2A.PMID_33731876_fam304 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:611c5e09-3995-49c6-83bc-e473511b6cfe phenopacket.store:SCN2A.PMID_33731876_fam304 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:c2673dea-38a2-42d1-bae4-a2ea498cdfbd phenopacket.store:SCN2A.PMID_33731876_fam304 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:a845b394-94c6-4d9e-973a-d90d43cbadf2 phenopacket.store:SCN2A.PMID_33731876_fam304 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:c8707474-f2f5-4a38-a707-cd03e2e633f7 phenopacket.store:SCN2A.PMID_33731876_fam304 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:44e51305-c8a0-4a93-9f19-2295e8953014 phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:315872b5-a7bb-4bdd-94dc-39199a06d81e phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:2737a1ae-aa4a-4d6e-b821-5a91dbbd7b12 phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0030915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:03bf0eda-74d1-4766-bafc-b95c539e725a phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:b2830152-8ff5-40cf-b81e-bbca578c3f0b phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:ef80055f-4c81-472e-adda-18f233831f40 phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:cf6c5b28-1ee4-49bc-b97b-0b84222e2059 phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33731876 uuid:a019d4f0-8d26-4add-8460-7504aa96fe12 phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33731876 uuid:79f7db6c-e9ce-4c3e-ac27-f0ea7d5ac9da phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_disease OMIM:613721 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:e3e19aad-33f5-43c8-9390-e91b1692502b phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:has_gene HGNC:10588 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33731876 uuid:1bb8bbb3-6c6e-4ed9-b7fb-b1ea11a13df0 phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31590245 uuid:6c2c94ef-9ffb-4906-840c-a26de13bd24b phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31590245 uuid:d94d4617-fe3c-402c-9822-1e77f4bf76a0 phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_phenotype HP:0012251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31590245 uuid:d8446d8c-f2b7-4899-b006-5832494d9cd7 phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31590245 uuid:d623702b-0fca-4635-93bc-a38e1d2cb163 phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_phenotype HP:6000313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31590245 uuid:77541815-497e-4566-9e88-d64ffca13cfd phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_phenotype HP:0001699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31590245 uuid:13f8aaf7-492c-4708-ac0a-e6fb5a36504d phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_disease OMIM:601144 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31590245 uuid:fe375171-d537-44ec-b484-8b8db5167d94 phenopacket.store:SCN5A.PMID_31590245_proband biolink:has_gene HGNC:10593 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31590245 uuid:54553f25-cb42-49c8-8340-96bce61df067 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:6000313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:11410597 uuid:47037054-a3fb-4359-bc0c-f6cae2126ce1 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0012251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:11410597 uuid:a0ee6d38-9d8c-4de8-8b8e-e799babb130f phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:11410597 uuid:a8dce4f4-9642-4659-a069-6233d2d7e2e4 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11410597 uuid:0ab8f4b2-e88b-4031-a022-e0d26d87a6be phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0001699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11410597 uuid:fd55413e-1b7d-4f36-8c09-38b36cc5c10b phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11410597 uuid:c71c326e-cfab-4589-a6f4-29bcdabad743 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0001962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11410597 uuid:82824873-c209-46db-952f-6835bc8198a1 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11410597 uuid:dd529e3b-c996-4063-9037-8b2839525e88 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_disease OMIM:601144 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:11410597 uuid:f929f204-fb28-4945-bd2a-143f22cfdf42 phenopacket.store:SCN5A.PMID_11410597_proband biolink:has_gene HGNC:10593 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11410597 uuid:c2acfd1b-226f-4417-9640-de9d2f994339 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:97691076-fae3-4afd-8b83-609a7ae897e7 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:fa7d3589-7ac7-4cdf-a8cd-e36f3d06043e phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0007800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:cc1064b4-fb2f-4424-a0af-3c7698019f57 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:fa35c595-09a7-4915-b34c-65049e108b5a phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:af91160d-973f-4166-82bf-173816f7fafd phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:58cb837c-c7d6-4a6c-bb95-11f0163faf6f phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:9086deb8-1e66-4cdc-ba6c-3c409bc6e243 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:70f67f2c-0f31-404e-95b8-aeab39e7de86 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:9347322b-1039-4aaf-b928-c030cc3727a2 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:7bd74865-6ab7-42aa-94b0-35512d184640 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:87460b1f-b19d-4bbe-8db7-496e56163840 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:c10d4429-e2a5-4d5e-b36b-734a22b12d40 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:f8b0bbbd-a4ca-4aa7-81d4-bf3080205bdc phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_disease OMIM:608908 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25525168 uuid:fafd67d2-e181-439c-ad7e-a2dd5751e720 phenopacket.store:SCO2.PMID_25525168_HM640 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25525168 uuid:250e8017-4776-492f-bef9-eeb4d4646705 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:c6139b87-49a5-463e-acab-fd0f03f9f41c phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:642ecf81-ddb3-42df-ae9e-002836a90ec9 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:1f10c0c3-b0a9-488b-8aa6-8622ff706073 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:0e47d515-3ed9-4367-8915-c3174c5e9c11 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:0ced94d1-17cc-4b0d-9b2a-7852e43253e3 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:07c0f8cd-6ddf-4bae-b1a8-e7984b72a3c5 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:6ac5bb13-ef85-455e-b4ea-4f87da4e8cc6 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:e4d4a682-ddf2-4448-9b78-c9a3acdeea72 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:a6de254b-1345-45a2-9bd0-108fd7fbd1f7 phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:0e56ac51-c010-4ea1-966a-36269f8e0b2e phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:2e49de7f-cc21-430f-a571-191fe7fa9552 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:44952c31-56af-4633-ab4a-353e80264966 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:2ac408c2-10de-44be-bd22-52e2ce7de975 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:88906d92-ceb9-4ef3-9d5f-390ea5060dce phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:2e833000-4b25-4aed-a4bd-694c502a4dc0 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:a251a488-6bad-4236-8e6e-14057bfa30bd phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:9d7ec798-7f36-429d-b860-fca10e51b9aa phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:d1dcc271-baed-4478-8d30-224b6d68f880 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:92a63687-cb29-40d6-809c-b52d771e67ec phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:6128433c-2a93-4956-94d5-12e001157c51 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:15499950 uuid:c308e8dd-32fb-4901-b9b3-b413ad6eeb31 phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:2cd8ced4-9b52-438c-948f-8a7db1667dca phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:bf590d67-2fd9-4ba9-ab28-1d3b09054245 phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:f0eca340-ca6f-4adf-9197-490653dad7ae phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:67821e0a-9974-4c7a-b182-47b09d6f991c phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:243bb0c1-1d0f-4624-b37e-64b70c061148 phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:edbd8b8a-ea38-4426-85ac-35d65c0373b3 phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:8beb7a12-ccbe-4fea-be64-81a12cbfe428 phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31844624 uuid:ea70399e-34ee-4905-b399-234a4987447f phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P2Y4M infores:phenopacket-store PMID:31844624 uuid:3716025a-6005-401e-b938-2680c126e7bf phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31844624 uuid:91ba3ee5-64bf-418e-bb91-e823bcf9aabc phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:35112411 uuid:3af94d44-eacc-4ead-bf74-4243fab09704 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:2ff8c9b2-647f-4c3d-8966-5056fd9f14a4 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:d8a1b140-74ad-40c9-affc-28e4f02b25cf phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:dc2c014b-f0da-4932-b111-acf7537d08f7 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0007204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:41be9242-75d2-42aa-afa3-3c5189bbeebf phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:c0229e55-a8e1-476a-878f-edd8ea3a4030 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:0f38bbfe-3b8a-46a3-a695-255a4417be0f phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0033526 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:9e27ad42-dcac-4c49-ba48-6369c6f41c4f phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0009130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:c6086eaf-5fea-4b96-b2bc-57a83a6c24ca phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:7903c78c-59a7-4627-a114-3615cc71776e phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:7c9b74bc-8d9d-405e-9018-2627935e1074 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:4da0e693-30ad-4973-bbc0-4a2e3f2e8e2a phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:0f64ba70-486f-4fe1-8df7-08bd0f685814 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:55161672-92dc-4258-be72-d1ed25edeaca phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:dfda756d-6f09-41d4-b12c-f726799bcdee phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:7d0b5ab5-2227-46a2-a9de-e725923310b9 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:a449da95-2373-477b-a9c1-b828eda66266 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:ba3e428f-0712-42d2-89bf-cec9f77a4fd0 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:598e7c63-a09c-4225-8d65-5abb7ae7d3dc phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:dd64d34b-9d53-4999-b784-6fdc83ea1040 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:219f61f5-d9de-4eee-b30a-8bbe46a8d3a4 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:da26a53a-a4d0-445d-9378-a9ddc0e6605a phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:c5279bb2-5524-45f3-bc23-1d553ce9c39d phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35112411 uuid:7e5cdeeb-50dd-4b97-b51f-ee9f6bf31301 phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35112411 uuid:b3b80f9d-6f01-4e7c-9c50-12e77d1ac26e phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:45430de1-a91d-4d5f-9842-580c2add6ae3 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:93e0beef-45e8-4429-b481-9962da79a7a5 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:77eca271-1129-4157-911d-686b1b184884 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:71255217-2b9b-472f-b202-5429d1a75d38 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35112411 uuid:04fde58f-1bd0-4999-b573-5e7a200fedc3 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:395069e4-7171-42cc-92a0-5d0a0f9c8ac8 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:3c4a2458-79ea-4632-b30d-f74be443f452 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:fdcc238a-68ad-4355-90ef-0c42abfeee5f phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:71715e7b-ef8f-41fa-9060-245c554af795 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:f7d86ed7-9a75-4f94-947a-e252b6e77b78 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:6e55c50b-383e-4bac-9865-7e6aabd8b969 phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35112411 uuid:1d072bb6-fc15-4ef9-904d-da371d770fea phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:35112411 uuid:940142a9-a480-4b92-84f3-916925ab4c1a phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35112411 uuid:7e991f64-ea5a-42e9-8a1c-83bf77b5b996 phenopacket.store:SCO2.PMID_23364397_Patient_1 biolink:has_phenotype HP:0002047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:18dc7d07-d82a-42e0-ab90-d83cdf4e3809 phenopacket.store:SCO2.PMID_23364397_Patient_1 biolink:has_phenotype HP:0033399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:c36154c1-7282-405a-96b1-9106760aaa28 phenopacket.store:SCO2.PMID_23364397_Patient_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:23364397 uuid:cf15aebb-b7e1-40af-a888-429f356a1f49 phenopacket.store:SCO2.PMID_23364397_Patient_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23364397 uuid:679183d6-351f-4b53-ab02-29c1ba9d13b6 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:6281188e-73db-4695-b36d-c5a9534faaef phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:57933281-2222-406a-a39b-e557f2cad6ee phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:ddba5228-3cd0-42b7-97a8-e862212d203a phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:4ece2fb9-38bd-42a9-83bb-a26f983b39d9 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:25f11192-5818-4fb7-bb9c-bc410aaa625f phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:dc577c1e-878b-49d3-9228-31bae534a474 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:213358ed-dc84-4c8e-a734-d73f308b4e3b phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:2ac69951-9677-4238-b70b-dada33821943 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:2ee0fd40-9132-49b0-a97b-adfee3351677 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0006543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:7fb049d5-7683-4351-98c5-2d3790d74d91 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:36be251c-7679-4355-8f49-b8d698165396 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:904f2cd2-bc9b-4d1f-9e58-5e89645f9fb6 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:0d8447f8-ff34-4a34-ad27-e896f3b98b7c phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:10805329 uuid:7faf8d7b-5f79-47ce-a1fb-fe4a02693288 phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10805329 uuid:57141c55-519b-4c0f-944a-01be786dcd87 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:801c5583-cbc1-49ac-b3f2-0e6ed7fed3bf phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:f1348d82-1fce-4bf3-9dac-d6ecf428fcc5 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:62d6d43f-5f5b-4658-abd0-8b1d67d01421 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:ccd9fc80-0133-4006-9ec2-68a393dbbef1 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0005348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:8676a486-03c7-422e-b4e0-1296dedeb10a phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:6ec2f8cc-4202-4bcf-bc89-5f758f6407dc phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:a65e6f0c-3b01-4b9d-9de3-b532a92b4714 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:53f4df64-12eb-48af-87d5-c44f1f05a44f phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:f2f6931b-43c2-4c1a-8122-3f722ea397bd phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:4bab8b8b-33d9-42a9-b8b8-6d44da699d44 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:15499950 uuid:6632563c-a89f-4ecb-9ea9-f3c5af29dc99 phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:886e630b-e32d-480e-82bb-76d3ebef09d8 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:da353c9d-e420-4a62-abc2-d60598440432 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:c3e04c0a-ac5b-427d-9771-c097ef1e2818 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0007800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:28f7566e-99cd-46ca-bbdd-9880e91bc614 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25525168 uuid:ee958109-5289-4f74-bd5e-2cc4a6dfee2a phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:2164c22d-2cf2-4bee-9620-5259a9b12a20 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:de21ebad-279b-496f-a3cd-445635f3adfd phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:51fe203a-fed9-4614-80ba-a942d33625f0 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:3c8d768b-f64c-45c9-a77b-3f9b60722d09 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:2ac7e68c-f416-4c50-a501-05675244bc1e phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:f53f7cf6-1ad1-405a-a789-301ed710ceb9 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:f2fc8767-02e8-4ac8-a862-11efabdbfb1e phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:d7b6ccd7-7a4f-4ffd-82fb-53c4030eb42a phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25525168 uuid:06644e20-c9eb-4223-8f05-cd46e2be1d20 phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_disease OMIM:608908 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25525168 uuid:eb3f7359-9cf0-4aab-beeb-abcb6ea3ee2a phenopacket.store:SCO2.PMID_25525168_HM789 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25525168 uuid:d9e33d32-c437-4788-b1b1-d762f248c2f9 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23643385 uuid:5162b959-b8ca-4b74-a3c4-a8a50fe48e7e phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:087b80d9-b112-4832-b134-fe7e3c9caa95 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:23f5264d-41db-4ccf-ab5f-aba59dced71f phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:a838ed1c-9d96-4a9b-b68f-3a5acc0291c1 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:72eff2d6-fe97-4f3a-967e-3d5b30cb5bd1 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:ff78d941-c69f-4208-8fc1-fb127a37d7d0 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:5194cdea-309c-401b-92c0-22cec0011bab phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:30726ef4-7673-41fa-a2a7-4267da7ff45f phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:9bed25d7-3726-4de5-876d-3b60334791f4 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:93246936-3662-4734-9bd5-c0883e780f92 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:6939f837-fd31-4b31-99d6-8080c1cdb9c1 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:b4170cd2-d724-4db4-9de7-ef918d2b878f phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_disease OMIM:608908 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:05fc0d57-2e17-4ce3-a3ea-2e848e8d2362 phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:db16bb1f-81ed-47e6-8530-3323f3a9a782 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:1a20eb7f-5f36-4937-953f-992fe50e5de1 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:744eaa55-f2ba-4ccc-9254-e926e83c5e92 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:aca00b96-7f2e-40f5-8980-de7205202490 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:87460ec3-5d8e-42e2-9d16-414cb0fe353b phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:acd62e7c-7b5c-456d-adc7-b6be2d5b25c7 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:e362f68c-73d3-425b-a6ce-10638704f43f phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10749987 uuid:2e463220-548d-433b-b280-32d69e2b8167 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10749987 uuid:f318765b-9dfd-4fef-ae53-694d3ab6974d phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:29af2ff5-0211-4a9a-aa78-e0ddc13a851c phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:599a4a42-5f3a-4cdf-a418-511fa91cc690 phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:2540d041-af64-4ac5-ac8f-ef5c5e46dc3c phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:f5ae5b34-c4da-4e23-aadd-8263eea1b883 phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:a8116b94-d31b-48a1-8321-1ac90e9314ea phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:d6a608bf-071f-464f-929b-b4e568c68a5a phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:b2b73249-1339-4623-b83c-8ac25e9f6690 phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:64711be0-1b9f-402e-9c30-80918ff57c21 phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:ebb6b6e7-91c3-4f03-867c-dde1eb7eac75 phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:15499950 uuid:f786171d-40fe-477b-baff-38638a3ab323 phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:c8f842da-41d3-45b9-835d-478a4c7f9f9a phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:23407777 uuid:0a3b7dff-013f-4997-aebf-581125806779 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:23407777 uuid:aaa06942-b054-4716-afab-5238e0f607f9 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:920196e9-97c7-44e3-9056-3ff73c2b0507 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0005348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:f5a1ec99-3833-4f2e-ad4e-23e13d86d703 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:b77ec09d-2a10-498d-8499-7987ae84dae8 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0200049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:ef12783b-e433-4dab-99bf-74efec23344a phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:d3d81e37-9260-43c6-a759-c6f38326994d phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0001640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:0e03b64a-23e1-4cdb-b59a-9e1063b314e6 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23407777 uuid:3afeb400-3136-4ac6-a93a-4b3207045091 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:23407777 uuid:7b4e0ac2-dcef-4da0-b476-22aff11611f0 phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23407777 uuid:322e2d88-fda9-48ff-89dc-88bc5b10c815 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23643385 uuid:83c84fd1-c27c-4727-b534-68aa4a6242c3 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:a2999e56-6cb1-4811-a311-20b0557539a4 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:ad949022-681c-4d8d-b93c-a85c9ffcb359 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:074fd071-e00c-42fa-b3df-4c327dc24fca phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:0cfa5b5c-ecfe-4b77-b824-e9e2233f44dd phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:cc233b5f-9893-4b0a-912a-931199ba3835 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:8c2f09ac-107d-4bef-b560-69010a6b44e5 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:f9274a4c-1077-4f63-9dc5-8b8a1d09b834 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:9c8ff2d6-9e0c-40ca-a480-80cd47f3af71 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:49e60077-d450-4779-ac9d-39ff95845f7d phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:a068f8d7-c3a6-4002-8f54-0934040a4ea8 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:aae6de97-c7dd-4c3b-8c69-bbf90c83a172 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_disease OMIM:608908 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:64d7d837-f5c9-43b4-930d-09388d70c9f4 phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:0795b7f1-10d3-41b0-8875-4c9179a200d0 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:00363eac-8f7d-4b51-a165-dea52e533fcf phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:ca5c42a7-35a3-4a11-b3d8-307a0b3034dc phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:41facd33-910c-47d5-a2b9-60db0a43f0bc phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:6da12d06-5074-4238-b133-f80aeb15657d phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:1996fc99-e49b-4cfc-b6e3-725c2c335b77 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:5300d99a-f9ea-4c0f-a857-ea6f4e88a56c phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:bb52ac52-09b3-47e6-8092-3b99326955da phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:1c3cc46a-7644-4d39-95af-43fdb65c2011 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:07b09fb0-2447-4e1e-b535-1816178db192 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:86413e61-ffd3-426e-8757-4a008f7ec21b phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:44016264-5257-46ef-b59d-fb91dd115ec0 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31844624 uuid:7e78d824-2623-47d7-bddd-26eb9feddb52 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1Y7M infores:phenopacket-store PMID:31844624 uuid:357c4258-3dc6-4b10-ab19-ccd1d9d51506 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31844624 uuid:8658b858-ff5f-4759-b7f5-4094d176e264 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:d940e331-fc6a-4075-8a3a-6b14d9434638 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:68c6f544-eebf-40e9-92c6-24885f002864 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:fc8850f2-1a53-4d18-96b4-475f4a886106 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:6010247e-981a-4183-9e6a-89a50dde8f2a phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:d7ce548e-74b4-45ed-b6c4-2126098ee8d8 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:6f6aa598-df65-4850-985b-1eb8588bf58a phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:20159436 uuid:d3f68b14-8291-4c46-9f12-07d6821a9249 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0002683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:4205950c-0d2a-4548-aee3-b7080c7ccf56 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:2a603add-e444-4abf-b80a-ebdab022b80b phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:ee053c12-582c-4a9c-b250-f321f02ede4c phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:f782efd1-cf5a-477c-9af2-76071097e8bb phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:75c30fe4-4675-4cdb-a2c0-286abaaebdab phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:3fb7ae95-4c96-4929-9c77-e177d5618578 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0012747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:352089c6-bc56-4975-8d91-c2b17ac804a1 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:c429d195-0de4-41f2-a831-8f683767921e phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20159436 uuid:f589c64a-7ebc-4beb-8285-4e99d40026b6 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P3W infores:phenopacket-store PMID:20159436 uuid:7177233e-968e-478b-89ca-a275c77077d4 phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20159436 uuid:1cc6c0dc-eec9-40c3-8262-aa31d1a24808 phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:877050e8-9541-46b7-ae8e-cea20249bc7f phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:1547c7a7-307f-4adb-bdfc-e4b29a9fdecc phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:28031470-cf87-46e5-b4a4-888b088e8d33 phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:886a0072-a4b8-4e54-b83a-90b1b27206af phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0005348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:65d913fb-ba78-4480-8b70-e835c245971a phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:88178aa2-19ee-4877-a2b9-eb43ba815aeb phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:250ff631-a963-4830-bed0-f4b1df9af03f phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:68144f18-e1e7-4828-a65f-8a4c59d620b3 phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:3be13508-b077-4df7-b227-d027cff58747 phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:c65d9ee3-523b-498b-806d-e6ded7f8654b phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:15499950 uuid:57d90910-4ca1-482d-9577-d3dfdcaf0708 phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:08578188-c7b6-4f5c-9805-7d2d88678c67 phenopacket.store:SCO2.PMID_23364397_Patient_3 biolink:has_phenotype HP:0002047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:996849ad-a990-41dc-958b-eb1d40bca4dc phenopacket.store:SCO2.PMID_23364397_Patient_3 biolink:has_phenotype HP:0033399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:b6efdad9-02a8-4f91-8734-118bf03a15f1 phenopacket.store:SCO2.PMID_23364397_Patient_3 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:23364397 uuid:3311d39f-f037-4a88-9103-656afd5b9f93 phenopacket.store:SCO2.PMID_23364397_Patient_3 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23364397 uuid:172cd741-6328-4c94-8a90-b601511fd31d phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:989f18d2-83c4-4a39-9ae2-bf94cb523cac phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:3fced4f8-0045-4daf-88da-b7341e723f05 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:9127c72d-4755-4508-9f47-66da670f8f58 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:98dbe20d-b958-47f6-8b7a-e23e11d6bf9e phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:bf3a2660-dd32-410e-a473-84228b64b98d phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:e7584e82-8ec9-45e9-957d-2d146bb6d841 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:323972c1-a733-40bb-9be9-82f6044a2a80 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:af5fa3a8-caec-40a5-8e33-0113c837350e phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:0181dd1a-c709-4361-8269-a24a01dff621 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0006543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:b227cfd5-4565-4412-9b9d-9e614309fe65 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:641f556f-5cac-4241-b856-dce5387da754 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:1d2f05f6-b61a-4cdb-a734-6a48e8c261b9 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:36d97f30-3e25-4691-8c4d-a26f462b85ec phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:10805329 uuid:748aa0c5-ac14-4e93-a9a0-020a322104c2 phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10805329 uuid:6ab3fbc4-515e-437e-aa9e-d6a1bb8d03d3 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:10749987 uuid:f28bc87e-5122-4bca-a437-7c23eb594b98 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:10749987 uuid:ac5d434a-515f-4b0d-ba1a-faff261df347 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:f547882e-10ed-4529-a899-32de02505246 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:a6d5e58e-4338-41cc-9c6f-7f2808c2559b phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0005348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:20afde58-7978-4fd4-be37-cc75afae89cd phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:8a0f7650-6cc9-4e61-a812-999ed1e41a35 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:d5059f53-a4d8-47bc-918f-fd61cd4eb3c7 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:10749987 uuid:ff17093f-8c56-4c8d-b27a-2d0bcdbd7f13 phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10749987 uuid:7fd76ad3-422e-42bb-9efd-82992dd27418 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M14D infores:phenopacket-store PMID:23838601 uuid:a574f977-2da1-4b86-ae1e-33ccfcbd1f89 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:23838601 uuid:a70b9c38-8eb4-4c34-9c2a-9645cd9d1ac8 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:23838601 uuid:70e5d327-3072-4c4b-8599-44c1a9e18cf0 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:23838601 uuid:10ba8d97-7933-490d-9dc4-9909345cb67b phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:23838601 uuid:156d0476-a1b7-4b45-a448-cf692007053f phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23838601 uuid:9f6bf5d0-f6ca-4f3b-a2d7-eee118cb8732 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23838601 uuid:63fcf326-b9ec-414d-8078-5947018da194 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23838601 uuid:2e6b1f96-4f81-4b99-9dc0-f5877da77c45 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23838601 uuid:d2f2ec54-887d-41c7-b611-9ace8a84e803 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23838601 uuid:55e457a2-cea5-49e6-9d0e-15bccdf99464 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23838601 uuid:88ab367e-34c0-4639-8151-12f503a5a889 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23838601 uuid:848c7407-84c9-4fbc-95ba-5546343095c4 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23838601 uuid:7655b5a1-6a0f-4314-86d8-6af75aeacbf4 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23838601 uuid:086751f5-5c01-4c38-9232-8d3d8bff6b65 phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P7M14D infores:phenopacket-store PMID:23838601 uuid:aff89ee4-911d-4c17-bdf0-ef92872b841b phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23838601 uuid:a31f4717-7f8c-47c6-aaff-da4da42c1d60 phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:17187620 uuid:4c1a614a-2cb7-4db9-b0b7-ec7cfe788758 phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:17187620 uuid:e27f2b93-aa06-4025-b80a-ce569f07853e phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:17187620 uuid:02663fa0-768a-481d-84df-074a6a8d96db phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17187620 uuid:2d333121-e480-4096-866f-c8907e01bb41 phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17187620 uuid:6324ceb4-5534-46b7-8322-43d527943650 phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17187620 uuid:187cd58e-be88-49f2-aa52-af571b39ac92 phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17187620 uuid:40a74468-b785-4921-a1d9-081b793876fe phenopacket.store:SCO2.PMID_17187620_child biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17187620 uuid:063e7c4b-420a-4085-aa90-c2bc7699acc3 phenopacket.store:SCO2.PMID_17187620_child biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:17187620 uuid:b5ba3896-1fd8-45c8-b307-411f1b39e3ba phenopacket.store:SCO2.PMID_17187620_child biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17187620 uuid:7735f291-793e-42e6-8c40-6facb1a0fbf2 phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19353847 uuid:bedb89e3-1c16-4c7d-b96f-173dba71cc3e phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9D infores:phenopacket-store PMID:19353847 uuid:d63b53db-172a-4b9c-acd8-8ad0058b6c6f phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19353847 uuid:36e88a07-209a-4cfb-991a-4457ab1b389a phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19353847 uuid:5e67cd1c-3290-4878-ab90-1e93263f2ef1 phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19353847 uuid:5a808ef0-4ef3-406e-94d8-48ccafaacdc6 phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19353847 uuid:8a062e92-89fd-4f57-9601-27ff64531110 phenopacket.store:SCO2.PMID_19353847_patient biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19353847 uuid:2d08493d-c7d1-4f5c-b71a-253b53774754 phenopacket.store:SCO2.PMID_19353847_patient biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19353847 uuid:0a172b89-1e5d-4f3b-bc3b-872831fb9259 phenopacket.store:SCO2.PMID_19353847_patient biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19353847 uuid:dcc87d72-3778-4f6a-bf8c-3a8b555c78ad phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:4e4362df-ccb9-4e4c-9d49-d574b25ec754 phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0007327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:bd535884-e32d-4668-9722-503bbe668fab phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0003376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:87c83d37-3bac-44bd-9f33-4e9a66f11f2b phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:99b619d7-f154-43bf-a312-a32a0f9956cf phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:45d2363c-afbc-453e-b680-70c5815e5dc0 phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:dd2489fa-caec-4b79-bd0a-19b088f85439 phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:03a7c00f-9a8f-4738-bb94-59ef06b1df4f phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29351582 uuid:f4d0d1b4-c21d-495b-b6a9-9c874a3a2a05 phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29351582 uuid:578103ef-58d9-4180-8cbf-7fac92b55e7e phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_phenotype HP:0007089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29351582 uuid:26acc08c-cea1-48a3-81c6-90c23b3b055a phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:29351582 uuid:42386b39-4934-4a69-ae91-86e7b57935c4 phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29351582 uuid:1984c9f9-d95e-4961-8565-300ee8cbde55 phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:ce19f3ea-5643-4f49-b75f-7148197c28f4 phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:5f453001-16bc-48c9-b2dc-3ef8af707895 phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:6a9c88de-03d7-4305-b9c3-85e3a007050a phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_phenotype HP:0002047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:1a293dd4-e4c0-4688-aeb3-67ad1906c5ff phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_phenotype HP:0033399 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23364397 uuid:0506d373-b4d1-43d4-b223-a886b62a7e12 phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:23364397 uuid:4c47e488-807a-4349-816a-5f0001292126 phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23364397 uuid:7af5d5f7-a7e0-4b41-9a5d-83fce82f6033 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:18924171 uuid:828aaf1f-55a1-45a9-944d-a310497f83f7 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:d7fd8149-f249-46c9-a096-ad03e8868d40 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:3967461e-cbbd-4581-a9e0-86e1c5184511 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:6dde8a14-8d9c-4c06-9b10-b1b874cca17c phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:c3b74340-37fc-4b2a-b435-bdaeb2ad0fd0 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:fdf9fb90-802e-4a59-a443-6a8841abc0dc phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:b2f0a403-63d0-4f4c-8e16-773bf6999721 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0002518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:c3bdffe9-58e2-4576-9085-d01df13e423d phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:b9336b37-f71b-48a6-b03f-e156c00b60df phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0005348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:9b76c192-5d94-4c38-88c7-23e3f70f1398 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:fb59d0e1-39f3-4340-81b1-579f604a219a phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_phenotype HP:0002363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18924171 uuid:b8da8315-7978-4bea-a9cf-70fc3e3513a4 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18924171 uuid:ff617c76-071e-41ec-9300-9b97efa1a587 phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18924171 uuid:92bf6b91-80c6-4bfb-86f0-59e866976dc4 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29351582 uuid:fba09ea5-41c7-4847-81e3-11f5664ce4bf phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:ee3cc227-24a6-40fe-8e60-8b93299d9e62 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:088e0fed-88fe-4d7e-81d3-3db2927301c6 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:b69c348a-508e-4ee2-9775-ef811abecdfb phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0003376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:c0205fb1-89da-453d-8443-7ca8e747dd03 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0003438 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:ba0b260d-1df2-41e0-b6f0-3baad9abff3e phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:adbda39b-8e1f-4806-9fb4-922d4bfa4b1a phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:ddbab682-3cb7-41ea-9047-d8d886250416 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:3d08d42e-161e-4e44-bf78-8076905466c5 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0007089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:778ffae9-6dd6-497d-b316-6b72d958b9f1 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:5fe96dd9-1951-4edb-8586-0c73ef1329f5 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:63bf09fb-a16d-4d2c-b779-f07ce47f480e phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:af22aecb-7067-48f5-9d28-ee096be50c59 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29351582 uuid:be62f023-4041-401e-b57b-09e54e7df0dd phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29351582 uuid:5916fec9-32b5-4e46-9561-4921982d5385 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29351582 uuid:639e604e-1497-4982-bd16-24a8db7cc859 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29351582 uuid:2186d67b-7b1b-4749-ac19-c0e7091b68d5 phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29351582 uuid:4f030d79-3d29-4c0e-8fe6-96164946d4a3 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:14994243 uuid:3cbd021c-96bc-4d2c-a036-44cf846cacf8 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:14994243 uuid:f2e78ea6-7d51-46b1-a12c-889670e977d6 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:14994243 uuid:185e5547-9901-4c94-9abf-2b0242efa849 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:14994243 uuid:3c17f184-663c-41b0-9f0d-5f651c1f06a4 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:14994243 uuid:d1323f44-40fe-4674-a365-06cebda67933 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0001667 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14994243 uuid:d2178e4e-1cef-4cf8-b8ad-d7951db0beaa phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14994243 uuid:d3d81335-929c-4df1-9ae3-3e3d2d9d1bd9 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14994243 uuid:055b45c1-8e07-4074-b4bc-40a3daa14e23 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_phenotype HP:0010307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14994243 uuid:a240d30c-f22b-4216-bf00-9b3f5530d857 phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14994243 uuid:5ccb7883-5b48-47a8-93db-20066b05970a phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14994243 uuid:7b12bf8a-6990-407f-b3ca-2e87399a669b phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16765077 uuid:9080889b-5b9b-43a2-a2da-abc484ce1ed1 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:16765077 uuid:f8ff91e5-b200-44a7-9eaf-594f52e27bfe phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:fabd885c-e8b8-4799-b79f-db2feb1d1ab4 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:07a37f0f-37a1-49ed-b1c6-64a972f76f89 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:50435201-87cd-4dae-98f8-60953d10cd15 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:ddc5098e-1b09-4243-8436-ae8544303e48 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:0b8abb1f-0e71-4832-b2f2-65d5ce282406 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:c71f75de-c725-429d-879f-840e44f3b9b5 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:eacbd52a-34dd-420f-bbd5-a02016dd026c phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16765077 uuid:8f3e82f6-328a-43f5-a9cb-785f7368cee0 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16765077 uuid:4482fda7-d7a6-4ef9-b562-d5fd3b055a50 phenopacket.store:SCO2.PMID_16765077_Patient biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16765077 uuid:a6b8d6e7-9bca-43ed-8534-f917b5a4cea7 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:30d18e70-20ef-441a-a98e-ffeedd32ab05 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:1fde3f06-999f-42ca-b07a-a1630375e452 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:b3de4df3-52ed-4b50-9ee9-ee2ddfd0cd57 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:d94708aa-5dd2-4cd8-9e9f-be9fe91497ed phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0005348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:20440fd7-60d3-4c08-a9a6-fadd10943006 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:5b71abbe-3c99-4de0-97f3-6b37633ec28e phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:ea5bf03d-dcc6-4376-b580-99a88842d1d4 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:a2fc13a9-efef-4597-86cc-49bf505282c3 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15499950 uuid:7e5a8a3c-7d38-4dd7-9b9f-813107c07799 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15499950 uuid:d53343cf-16d9-45e2-be09-9e4454a51a64 phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:15499950 uuid:b29630b4-ed2f-4fcd-9993-cc9db1451dce phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15499950 uuid:ffb5254c-c5ab-44a4-b219-f1e2665a625f phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23643385 uuid:507c351c-bc8c-454f-b375-2d7d205bbb49 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:b8fff8c0-f378-4d65-a0fe-08e23b730b04 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:7dfed8c0-de8d-4e41-b1db-67bde253c808 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:66ca525e-a441-457f-bc3d-7aa0ad6f32e8 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:04b06796-ff61-46ff-99ff-6ef846fae656 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:5cc6fe62-5018-45b8-8e15-940ae4284d72 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:f5f50dfb-4a3a-4b9c-920e-6df0ffc5abd9 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:a597fdcf-0c69-4366-af43-027565357dda phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:c8715b93-f9a6-498e-88fd-15078ca70f07 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:e7f5f5a0-cdb9-45f7-9a11-e836bb8e9196 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:66718708-27f2-48c0-8013-2291b42de2f0 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:6f3d3eff-44cb-4fd2-a07f-e716a1512295 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_disease OMIM:608908 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:8219656c-56e2-4a1e-b2de-4eff6c553510 phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:ffcc1e86-c2e6-42f4-b963-ae24f3f86b3d phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:d97aa931-b5b5-4d1b-8bfa-1ebf7d4b9f83 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:5ea88cc3-61f7-45c0-8c3b-c8db530b6f06 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:d314b389-9a34-4dc2-88da-b58d84cd9b18 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:a69030c9-decc-476f-bb7d-bd019a80a6a4 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:b4d35ba1-2b33-41b4-946e-23ca7201d92a phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:e6847786-71da-4e7e-97dc-ac3167359ee0 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:16d939aa-bbec-4cc6-98de-5334159e4ee6 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:02c6c235-c59e-4bbb-a88e-422106d61748 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:3f26c0df-59a9-479c-a613-de958b388b79 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0006543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:748ee74e-684d-4703-9113-ae33d4b31d3a phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:eafd4ea4-83e4-417c-9acf-90a0f2bd9258 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:1e5e2c90-ff7c-4732-b36a-8621123d84af phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10805329 uuid:c4b6b88d-ea2c-4dd6-b0cd-6257616c915a phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:10805329 uuid:518b94af-1b7c-461b-a7f0-e8b92cdb7d35 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10805329 uuid:39b93038-73fb-45a4-b391-34e1d36f7d69 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23643385 uuid:6b9da024-1089-4ce3-ac22-4f2fe0abdff2 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001635 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:9b35babe-191c-4399-8bd3-828920b7654f phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:43098cf9-b88a-452d-8566-75f095645645 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:81dfd79a-9ac9-4668-a46c-e4559e69f871 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:f0f8d26e-f7bd-40e7-9734-db924823b636 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:5f12c4a2-6cab-4bfb-972f-65777336d4af phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:4d5d44ae-48a2-443f-8b5d-981a254e572a phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:f71ec234-6c66-49a7-87f7-0585c178ba52 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:4b67acf8-30e3-400a-a201-ee70d55afe49 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:a04b6926-89f8-46e3-90d9-e20e98d2603f phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:46d33cec-15ac-4d4e-9cb6-1112ff19e570 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23643385 uuid:e72f08ab-a5dc-4bb1-b94e-fc0120d9c700 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_disease OMIM:608908 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:72dae31b-2ec1-45f9-9e5d-bc574c3ac630 phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23643385 uuid:e66bea49-0fd0-41a6-b6c3-978617549d66 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0012514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:707fa287-f532-42b9-89b9-80370e4293fa phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0002403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:ba50af54-3053-45d7-a607-69e97ce88483 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0012047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:4256a489-247d-4c44-ab32-43ee7883e991 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:17919b4d-1337-4f0a-97a5-350a68925064 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:bb55abc9-449d-4e36-bfac-17ac7fc1291b phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:50d31c9d-66c7-4151-9e16-a4db96c5619f phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:c7836e35-1c04-4e94-9e91-2ff1ce8624f2 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:50c7b863-3608-4a99-b8dd-b14271fab969 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:0048d3d1-630f-4c46-98ea-ec19c4b77211 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:b0a32704-d97a-4219-8fe6-83db27ad8c2f phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34746378 uuid:24ccc128-db0a-41f5-bdc7-a84e8fe39eb6 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:34746378 uuid:c172be94-4622-4833-a1f9-cb217169a877 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34746378 uuid:9696b26b-8a80-4771-a26a-c4d958a33f61 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0002747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:15210538 uuid:7a8d966e-cb1a-4395-8f5c-bba1ec28a2c6 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:15210538 uuid:159f74ba-f568-499b-9548-720ced224e27 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15210538 uuid:f4a57cf1-58aa-4ab6-ba52-c7dd55b496b7 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15210538 uuid:68f1b7a0-c411-4538-944b-a646dda5920e phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15210538 uuid:d06ed511-40e0-4ee2-82f8-f9e28fed0a66 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15210538 uuid:c78f27c3-3f02-44bc-89ba-952e953a04b9 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15210538 uuid:a6b2ff33-36eb-409d-8a27-e9023ab06bd0 phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15210538 uuid:3474f1a7-aefb-4803-a4a3-d5d85bf6625f phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15210538 uuid:c9187169-9488-4caa-b898-16b4e206993d phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:fb1b2cff-2d7d-43ae-bbdf-73c6b7cea2b5 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:4c3d7670-f6ef-49aa-8541-8f67373d3536 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:1fbed552-be80-43f8-b22d-aad4c5f9a46a phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:23647dc6-fd25-4669-884a-93ca68f8c014 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_phenotype HP:0001639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10749987 uuid:fca9c96a-4c37-4549-a2cf-b9e03cf58b02 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_disease OMIM:604377 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10749987 uuid:e25ea717-9cf3-44e2-ba31-48bf01af503c phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:has_gene HGNC:10604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10749987 uuid:bd020c4e-04a6-4a5b-96a6-6e0313e8f52d phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33185949 uuid:fbdd0c9c-98a0-41f2-9dec-29c0574f24d8 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33185949 uuid:ad48156e-67e8-4c54-9935-81bfa9b3d9fd phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33185949 uuid:8e92b64a-06c7-4a70-bb3b-af50c5c7c513 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33185949 uuid:0452a6b7-e33d-4595-9a91-4df3a7d68c69 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:33185949 uuid:b6f03f79-bffb-4425-90b5-b022fa29ef59 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:d5ba7997-ed2c-4751-ba65-8126c22ebaaa phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:20154553-10f6-4943-87a0-081b36eb305f phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0002572 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:7a6a7d54-1b1a-436b-9d2d-767e348751da phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:46a39f63-8da1-42d2-a547-49bc9698d177 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0001919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:5e6922e1-5de0-427d-acb3-7fb61c934915 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:9226bea9-5315-4772-a997-5ba6f1b9b38f phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:3d9b8efa-3fd2-4940-81c0-539931e1dc80 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:b5678de6-ae3d-4508-aedd-9be7d3d582d6 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:27421a94-6b22-4f7d-aa0e-bdda567b71c9 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0012213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:25fb6359-38fa-4dd0-9cd2-6a2791b1aa2a phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:5a0d3986-7a50-4f8c-9f73-84b7c5be97c7 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:d2139f2f-1e42-4149-b7b3-f21dea18a69b phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:659a76ec-ebf0-4c87-b91a-9294089d7ad8 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33185949 uuid:fcc977c7-b0d1-48ec-a154-4e6950c5d282 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:8c8e95a7-8f55-4b63-9d1f-c6d10a76b189 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:d41dda3f-80b5-486f-a717-56522f66b2c2 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:27253c3b-a3ae-48df-bd6d-b6f5bd092c60 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0012606 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:19f9ad96-b44a-4579-b1b5-50abaee35710 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0004732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:5e689532-22e7-4aff-ad79-c158bfb02366 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:6d43c1c9-7269-447d-a569-81ccc7af79b6 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:dfb39534-341a-42fc-bdab-cf7bd67186dc phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33185949 uuid:57012861-924d-4269-b26d-935fee9c0ee4 phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:33185949 uuid:93ff71b0-a667-47ae-b002-da75d4a6e12b phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33185949 uuid:93018148-94d1-4b8d-acbf-c495104905f8 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:225eba25-a3c3-4441-8d87-1a230e6d389c phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:c58573d1-bd56-4126-8b3f-81e0fd381f2c phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:4924dbb1-199a-4ed6-80cb-f3990f646d61 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:5595e83e-dee7-49ae-aebd-a204511dd1d5 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:9302cdef-99e4-42c1-9c08-c26fbe38275c phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:66a0cef4-e01a-432f-875d-59627dbe6ead phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:0363d018-42b6-4d5c-b797-0ec7edb4423a phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:df47f800-61e6-4e82-8405-828a07dd402a phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c7230ac6-a32a-48e1-adc1-9be89fd744f6 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:694c3101-ca10-4451-81e6-543699714036 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:8abfbac4-171d-4116-a06e-d24e81bc94f5 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:5dfe6399-162d-40b0-84c9-e6cd46469fcc phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c3e9b5ef-1a17-4608-97be-b9f49ed482f8 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:90c3648b-e6f6-4387-99fd-88d8f8b13778 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:9ab3cd39-6a94-4e1c-88a3-a5045664f4a8 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:345f266c-f44b-4cd5-abbe-44bafea43b8e phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:046eb8bc-e23e-4617-811c-33b0018f9400 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:145517b4-35a0-4d92-802c-8b8813c90e1e phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:45555cd7-c1d4-4cd5-8814-005ad4a8bf00 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c0fba40a-38f6-4e8e-85b8-ea901a5f756b phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:9b792cbd-23f8-4915-98f9-208ba02cff13 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_phenotype HP:0001919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:6b023573-43f5-45b2-9bf6-f66fecf1c826 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:277f1e4c-c648-4d2f-b8d2-5eaec1d43c36 phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:ce5aa351-bb81-43ec-b022-c688e9b5373d phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:0646f5fe-cf26-4242-9208-e8f566ca0ea0 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:1ab9ca92-8e68-420a-9310-db65385b38ec phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:aaf1abd0-c818-41d7-92f8-8ec6dc564d49 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0011107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:a690d3bc-6138-4bc6-92a0-6828b6882d82 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0034284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:790cbacc-6572-485b-b449-7a7e1538b4fd phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:32325141 uuid:0ce4e876-710b-4d26-be23-f82b64bb0d59 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:32325141 uuid:d07db437-ee57-4617-ba9b-fda52604265f phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0011919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:32325141 uuid:bbf4e1ee-38ea-4188-9e78-913febf312cc phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:32325141 uuid:243353a0-26be-41f5-9787-af69941ca8ac phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:41eb5ef5-4b23-417e-adfd-0fa30229ad14 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:98e81cfc-50a6-49ad-9b2a-aa3a60b5c36e phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:e4c78482-9ba5-4877-9b64-733134cb754c phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:7a34f8d3-74fc-421a-8f9b-b9c767b52543 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0001058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:e1c47288-2eda-43f9-8bbf-348b58e04c9b phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0200043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:ae445ea8-f539-4064-98c9-43f9357f4d3a phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0000230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:94e712b0-a175-44e7-ac0b-2fd0d92634f8 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0032299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:816304c2-cf1b-4a6c-a68d-473dc22a5964 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0003261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:bc2ce81b-2e7f-4899-a7fd-18be7b3c18ee phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0033606 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:1ddc46da-c718-416e-9e82-234d6bb108e3 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0012311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:9dd0a33c-3c49-42f5-bb37-696c1e3504a4 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0032128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:c740fa91-4a71-4c54-8e7d-d186b5439292 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0009789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:36b86502-e116-4458-88ba-b10cf67995a3 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_phenotype HP:0032154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32325141 uuid:bca4c846-1d99-42c6-8169-853659b6b5fe phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_disease OMIM:620674 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32325141 uuid:ef5d5be5-07fc-4aa8-94d6-85f792eca3b0 phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32325141 uuid:1bcb0e12-dbd3-4c45-9520-c7e5977f8d93 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:27392076 uuid:2308af0e-e908-4c3c-9fb6-1880a9a12c54 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0100838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14D infores:phenopacket-store PMID:27392076 uuid:bdadc8df-2ffe-4ac3-9576-9c0fc3411e27 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:3920a244-86ae-40b4-aa2f-cc3aef990b3d phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27392076 uuid:9f492ed2-94dc-462e-bfe8-b35b2161f2a2 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27392076 uuid:b7b43dfc-4b69-4660-9ce7-73c8a916c7f7 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:27392076 uuid:7de057fe-00de-4d96-a14e-dd860560b0d9 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:e4456fc7-6b12-4d7b-a1d9-088a275c4f3b phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:426003be-77d4-416b-aee3-b44360d05bcc phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:b4d59921-1b38-4518-b5ea-698253da9670 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:ee8721b7-6546-4d3d-bab8-c69efcc3fa22 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0012213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:4871fbe9-4699-4e57-a181-d15de0889af2 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:afa0c16e-fb65-4500-abbc-c8002bc62c79 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:c429802b-eb5b-47a1-9722-fd59ee5e3c52 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0034886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:b62da643-d86b-4d88-83b3-922a0886d6ce phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c9f0da94-494e-4e06-907b-85e039ebaa5d phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:613c8d82-79ce-4b56-b6f4-30018d44863b phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:f2b33379-de06-4294-9f00-2a116e254662 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0040084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:2cc6051a-aec4-4727-81ce-3f4e0d64dca4 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0040085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c3a74a19-44c0-4862-8cf0-5ef83c7b0760 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:e9e4cbb9-6d9d-432e-9b62-2b6a47474e8d phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:492d75c3-6dd7-4285-ba7a-8c340bc5379a phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:d88a2827-cc9e-4c79-9235-513a5e07863c phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:cdfbc76d-9e26-4690-9d6f-c46c354d7145 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:2a39bb55-b28d-4b25-bc78-11f57d53ca55 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:843757c5-e7f2-4d77-9f60-bedf6f2f031a phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:40a3d89c-0d05-4924-b036-9174aa16f199 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:95083f5e-a31d-4a78-80c8-44c1fae17761 phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_phenotype HP:0001919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:ba3e3e2d-ca26-4a7c-a47b-e2b3d88a417b phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation P14D infores:phenopacket-store PMID:27392076 uuid:964db19e-c62e-4bd5-b1de-b7c3fb131b5c phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:9a3861a9-7172-4ec8-82c7-e314019b7055 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:16b0e213-bbb3-489a-b952-6c4a7455915e phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:cc33849a-8987-4fc2-9173-1ec13e2e0d36 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:b36f4934-c518-4ab2-be90-f984119b6f4e phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:e29e8cdb-2641-40da-9c20-e442ab165601 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:237e03a7-4a5b-4237-b138-f3f9f32c5419 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:d78c4a35-53cd-4a69-8c03-b8dbf6aee6ee phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:dac47229-5f9d-412d-922a-b9690698c1b4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:361c0fe9-3736-4d8b-8ffb-38e1f8414a5d phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:84bb65d5-3cf4-4597-8183-da6a440b598b phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:9ca9eb64-7c9c-42be-862e-1fe5b75ce9f6 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:73c3d319-eca2-404e-a6eb-864657d3b01d phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:a8e19e40-f93b-4b5f-9be5-f0bdd1610e83 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:65f1b2ae-be5c-424f-ac7e-d9af65535321 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:288f932a-a6f9-4420-b30f-68ae2b637e63 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:155eb3b5-7153-4e59-ae85-ac6f170abfd7 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:b88c3ee1-f7fc-4abd-8105-f62d9bf839f7 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:2e5fae3e-b8eb-4498-b817-388b7d1908a1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:b3aff4a0-7c40-4bc2-9abe-62a1f5d64445 phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:68f010f1-18cc-4854-9387-3a51f53dc219 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:28782633 uuid:53fc64e6-a1d6-4fe2-992e-b3f8f017c29c phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:c07a7203-e171-46e1-bf20-3533cea41bbc phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:1c0769fe-22f5-44bc-a2e6-9a2c2a9065bb phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:c8bb9da3-7de7-4d1d-837e-6bb5a156fd02 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:58f7a905-08f9-4365-a797-fe811d321551 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:48c189d8-6095-4a54-8eda-9116e8e6eafe phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:19053ecf-35f8-4462-adb8-6ce30639adda phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:fee68dee-06a7-4614-bd1e-a327d5c6d16f phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:fd6b8703-e2cb-4f1f-95ae-1c0b8bbe01f3 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:f5e651bb-c889-47a4-9f6e-56377e1fbc90 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:dd68fef0-d4a8-495f-adb9-3087f1b6fef8 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:160bd006-8788-4866-8e80-8a8c40da861e phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:2ecdb29d-3d0c-46ca-92f5-fd0afb09b15f phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:38cc052b-fb49-4455-9545-3fdd620157c1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:28782633 uuid:f34c14b9-93b1-4eb6-9f88-4c839d84c1fd phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:32b82291-78cd-4332-ab9e-060d4030e563 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:28782633 uuid:c5183956-70b1-4da0-aa23-d6aa8662d1d9 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:3f3e5681-d51e-4db6-9902-4ae7102b819a phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:a0479818-8c6a-46a7-bf02-7d453523991e phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1f9f4cc3-1d0d-4b11-9873-d45144dd565f phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1a87e701-3cbe-4098-86ed-722face3d74c phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:d7d7b17d-1240-4e16-bf3e-80fdd3fbd067 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:772c7771-5118-489d-a3b7-e7e2852c1264 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:b7a4a58e-0c3d-453e-87c4-fead182db4cd phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1de3fbc3-dea6-4b7b-97fe-295159783bb7 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1dee61a6-ef6b-41fa-887d-9fd22d821bbc phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:3fd00503-da36-46ed-8374-b837d4dabc66 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:4e8044c5-59ab-4027-aa8f-7d866d55725e phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:fcbbe808-83bc-477e-b875-10da210a1135 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:03b43490-cf24-4791-a4a5-bb3c62b25631 phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:4aed0ede-ddb9-43f4-94d9-f9adf96f24b4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:35fe1a8d-5ebe-4ceb-a06b-a1a4337e5ed1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:84d54539-25d3-4adb-a0b5-46f3a0fec793 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:14c17e4c-7d04-43ee-a2fd-b7aeedb68a81 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:83027c40-f655-4cf4-bc22-bf764b93e3b6 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:51ab983c-4530-4617-a1f0-7562e7f5ab23 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:ccecfc8c-27f6-4b98-a378-5574213ecbef phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1a7cdbe5-0b17-4384-ae3d-5cd525668d62 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:b1deef08-2dda-4351-a713-6238cf5757c7 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:3ddf942f-af50-420d-b591-3fcd06d33d92 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:6c75d9ab-f534-4ff9-a933-7fe6360fda60 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:8c3709ff-453b-4957-8646-bee318e49d9e phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:3be94fce-6f00-43d2-92ec-348b57e48837 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:d3f37856-4327-4c27-8dcd-36b8b075239b phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:8d9cda4d-2fc3-490e-bb50-bbd6cd9e4aa1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:9e350f92-106d-4cdc-962f-9eedab075d75 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1753503d-fe36-4dae-9fab-11bffaf37f15 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:28782633 uuid:0bc5dfd1-5a54-4d7a-ac71-d1904b63e1e2 phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:c8aaf757-cee5-4539-a082-a11c0327c87d phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:4d7d6631-42a3-4d58-8a62-bb67d4b3051e phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:6c6cce44-5bf1-405c-96b0-58e2fa8020e4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:ff30a058-a811-473e-9f96-26e2e85a8c37 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:470e1e6b-e262-45e6-a28c-deb855ff3251 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:e1d7674c-f7b4-4078-9e93-ca0354dfe4d4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:10bdf0a5-9960-48c3-9f32-48623ee8a770 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:e4d6634a-834c-407f-b845-c9737bf4c8d3 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:5a0c1b46-6a64-42b0-9464-c4c252c3dc98 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:9e44ac04-db1a-4fb3-90be-2d04f2d0965d phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:e00f8cee-248e-4712-a62d-a939bfca38c4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:455a9a1e-527f-4592-bf82-a1a91a2fc41e phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:8e5535d7-53f8-4a6f-a0f8-a850e55cea63 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:890f1f5a-0cf2-42d9-8877-b72684c1d5a5 phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:5b0082d9-4dda-43ff-820a-d00912f975df phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:eadc9834-351f-4578-aae8-8ab5ce820e8a phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:0c2b7e1b-a68b-4742-a8dd-45a8f1392457 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:84d23eed-b671-4c9c-9496-d9650bf38a94 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:9ca49aa6-129d-44b8-8e99-bcf0e6dbd8b0 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:ae868f55-5514-4a59-86e4-fa0cd5dffc48 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:f45216f5-d8b8-4198-9b59-ef8a79d74e5a phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:8502aa2b-ba52-4020-b7bb-27a65877f820 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:70d8406b-c041-4a03-a768-86cdfb1c069d phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:58821921-71c0-4566-98aa-75ed224f839a phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:dce77af3-4e07-4b7d-a7c0-1964ffbc0194 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:b46b2dae-e9e0-4072-8ff8-6b8b0b5486d4 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:5b506e62-e889-462d-b678-e2ddc2e01b08 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:87fb75c6-f26c-4a4a-93b2-d8b3b4ad9b95 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:787e1572-ce92-4439-a1de-bb6c456f5971 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:4f85401e-fc4a-4840-9249-b37db6d78c84 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:8673f6d8-a5e0-46dc-a379-ac3020c4a03f phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:ae05cbe5-2a3f-4829-946f-4a4606069a47 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:d82886eb-ef3f-46f8-a611-374ed59174d0 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:ab3815ae-0b5a-492c-82cc-99ce6360ffb5 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:f9987bc0-8679-4ad9-a218-f8590b1c971d phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:254eb67e-9db9-4f1a-9299-2e903a4ffcd5 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_phenotype HP:0001919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c28b7d99-b0a5-45bb-a34f-2166e16c6c88 phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:27392076 uuid:fac6b2c6-882d-41bc-9fba-033d9767813c phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:c341c96a-6e7e-4876-8707-b0cc1fe938ec phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:edde8d21-8b54-4aee-9f72-6f1e3bf64279 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:5a444c72-5bb0-42a3-a2ce-24ea37ee5569 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:6b56c5ef-b829-45e4-b647-9110c80ba02d phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:a3cc45bc-233b-4d1c-bfe9-4efdf2d23f65 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:1332b1b0-a01c-4b70-9178-0c2c45e8cfd1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:ddd14a39-7512-4656-be22-81505e8cfb5e phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:cccaa7e4-939d-4762-b27a-21f7b78a3767 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:93253076-5438-4eeb-b011-92bf457d543d phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:19ef8474-9c10-45a1-bb2a-dee58697e825 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:10766ea5-35cc-4626-bc01-6969f7183d16 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:78025b39-3498-4fe5-a21a-96320c0981d2 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:b3a21655-f032-4fd3-828c-ffbdc071c41b phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:17b26eff-1439-429c-b64e-84cd057b95a0 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:01e507b0-1862-4f77-9d56-0b2ba9048aa7 phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:8aa8ed39-82df-49d1-82ac-95830d99ffa7 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P73Y infores:phenopacket-store PMID:27392076 uuid:35e866be-d768-4e70-acaf-a81e83bb36ec phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:851fe49f-5234-4f22-8607-eea09ebe71c9 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:27392076 uuid:77dd7859-1b4d-4cd8-ba03-af7414c65a31 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0100838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:30299acc-7533-47e6-a1e6-3e631e2b9867 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:320e6b02-dc23-43f2-9abf-7be55e0a2f7b phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:37153c72-f780-43d1-b10d-82b2f1d11830 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:70ca8ba4-2f8b-46f2-8621-3e9ce450ff4a phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:5b45f0f9-b5e6-4014-adb8-1041a0885b34 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:317ecae2-fa5c-437f-b4fb-c3088896a5d2 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0034886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:e1a2740d-2905-447d-b7b8-48df9afcdec6 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:8f069286-c5e6-4bb8-8243-41269525c5c5 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:b6d02711-a18c-4671-95ee-fe12f7b7892a phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:4682f0d9-86d7-46b7-8829-7a078fd33985 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:a3652420-127f-4ac4-a1ea-f0946764d34a phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:08bac5c3-0779-4d38-8a6a-383bbf19ad04 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:7148ad28-4e85-4da0-a75a-245e9f7442c7 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c5042bf3-c182-4f55-aab5-2ae1d3b63f9c phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:3f1ac9fa-04e1-4e33-96ec-617b928ce64a phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:9ae5d7c7-266e-4820-a21f-22eadf8808ea phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:fe9021cf-b241-46c0-91e0-eef48c48a76b phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_phenotype HP:0001919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:c55b7c14-5e29-4115-9a2a-2109b2fa5b70 phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation P61Y infores:phenopacket-store PMID:27392076 uuid:de72a314-d6ae-47c4-988d-178bf67d287d phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:1a74dc76-9266-4af3-80ac-8de50d82b5f4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:118e1b7d-2d4e-416b-b061-c875cd4ee06b phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:b0d2796c-0aaf-48af-9607-0c7bb0452cd5 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:1d30c863-413e-4dd4-832e-5d99b168a83b phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:0043d4a2-47fb-49b9-abec-014bc685923d phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:608e23f2-de08-48e3-8f64-a5b0ed194484 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:204b7040-0dd1-493a-98d4-3172f2cb77c1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1c560c1e-28c8-465e-b050-874e7958e329 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:1363df0a-ab3d-4b1c-9aad-a38132ed3256 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:dc7bffd2-b684-42bc-9a46-50bd5dd9eebe phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:aa56e136-2bb2-4047-b95c-153d0b900c26 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:99082b4b-a599-45fe-ba50-fbc1d17a45cc phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:f5457ea6-04f4-4042-9cfd-a3bb48fee0fc phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:4208f144-9702-4a7d-b812-3300cefa1258 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:35e906b8-2aa5-4302-bc61-c8c594dfd3cc phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:1efd901e-87a4-4691-ba62-bb7ecbc03656 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:04fa1236-b410-4270-9ea2-dacb74d73455 phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:17a7a4a1-4547-451e-9241-aa46ab3b1a91 phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:d7a2b80e-2739-47fd-b304-cd9d2900d54c phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:74316da0-130e-4f5a-a3ae-1d13624bee5a phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:338d4529-e332-4578-aef3-f1148184aaec phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:d3fd7947-71b8-490d-ba81-2d0e32e7a414 phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:b9dd06cb-72d4-4a72-be9c-82259010fc9a phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:f0f099e2-2f5d-42b4-8386-ab395ea1563f phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:c343993c-de19-41d5-8ab9-9b592e79fd82 phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:a49c7908-4c4c-4955-b240-da2c00597f30 phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:6cb4cc86-d8fc-4328-8e41-35758e3f93ab phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:98ab9938-671a-42e4-a8e2-bfa1b0405d4d phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:97a95303-cff3-4285-afca-41c458d203d8 phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:da8fe222-8d9d-4c35-b8c1-ad0deaec878a phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:209b0e0a-606e-4d00-8856-dc90ce435cba phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:e6316fea-3908-4317-8bd9-4a34b98324c3 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:ddeee042-df76-4298-86e1-222aed223a27 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:3fc16f68-1034-4e3d-96ff-ca15dae2a1be phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0020132 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:425791af-469b-4195-a80b-4bbfc428b06d phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:341fdd0e-8823-4221-be67-3f53f8bbf37e phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:c8f0c867-08ae-486d-b9b2-2e65cefc1bd8 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27392076 uuid:44315a10-501b-4a15-aa52-fb50d11e8893 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:54e21076-c267-478d-b581-053c75028c94 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:eaa37c02-de8c-4d8a-b54e-c1d43afe11eb phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:95b4b741-d1cc-4d32-b97c-b65acb896153 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:aa453cd3-5a8f-4e0b-ba63-3bf17ffc51d2 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:5e071926-2c95-432e-ad29-5f5754e947af phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:e3af9b34-18e7-4634-b443-6875dc54509f phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:cf8c2e51-5c2b-4ffc-8adf-7b5912bee87d phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0012606 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:cc43971d-521a-402b-8110-9525d69bc3e6 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0004732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:adde28f5-3a9f-444a-a1e3-94f17718ab62 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0040084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:ddbc49ef-ae8d-46c6-986c-45d71b78d8a9 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0040085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:2c8e5d10-990d-4ed8-a301-3588b72c7bd6 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:5ecaf56b-d539-401c-802c-7517afc2cc28 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:68eeb47b-e08c-4fa6-9c3b-5e709e24194e phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:50c3d787-27b9-41ea-a3e0-995f48207f55 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:e36bedcd-e875-4b23-8b83-60d36e10b4a1 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:f30a2cc7-9381-4e84-a86b-bbfdbfc47a7d phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:5e125d37-2ce7-44a6-a063-890a0cf0ba7a phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:1f30e56d-f2af-4dc0-b0c9-7ebccce3afe7 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:9a08e82e-56a0-45f9-95ca-8753dc2028be phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0005407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:05ea8603-9810-45ba-9ede-d28de1579314 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:b6059e88-e939-440f-8374-6cfd90b10b70 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:be955693-c016-4281-910d-6303b2004553 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_phenotype HP:0001919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27392076 uuid:9e623f6c-4427-4ff8-a964-282cb7434c32 phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:6ff0db62-c18b-45a5-8fb2-af2aacbf471d phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27392076 uuid:55d24588-70e8-4385-9dbd-39eb7b8a337f phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:9daef3cd-c1a4-4e20-8ef5-c956cc7ac654 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:04e7db40-1087-4d2b-bc37-5b5ea7245f98 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:40a1125c-5829-4103-b75b-8e5b3da4bcc1 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:749ba161-0969-46eb-bc4e-e95a5e06f2ff phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:68b07cdb-69e3-4a9a-98f2-cacfad9a46c6 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:2a02a033-e322-4eeb-ba21-9748d761635a phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:2aa465e0-56c7-4b91-8a9f-f9c4d8a8c7eb phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:4bcf2671-f620-4e28-a1d8-9fe986e4ff7e phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:d53d32b9-7f41-41dc-85b7-38afd7d7a411 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:a9e0d2ed-d7f9-4173-a6de-5a1936977ecd phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:73908fbb-685c-47fc-a886-cc37f84aa278 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:22978c0f-330f-4ae2-9272-9a28d75c67fb phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:a67a3410-c5cc-4e56-9ea9-8863574addef phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:427cce22-9efb-45f5-8d20-7d9029d956f0 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:a6566ae8-ec36-458f-a541-3602aac07ec8 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:df4d55c9-3c57-4885-8151-879e1cde0239 phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:5bc68c9c-f412-4a1f-8758-bc8d65d02297 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:2174b14b-ad45-466e-a68e-dac341c27ce7 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:ec5eabc8-5b51-4b00-837d-e38bcc86b02d phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:447e3bc0-89e6-4cc6-a995-b302433feb87 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:00301b21-38f2-4147-9125-bd67ff7296a0 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:e1d69caa-e893-49fd-b224-9f3567c4184f phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:a9a2e930-eebe-4025-993e-34f768279ba4 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:840e90ef-250a-49d3-aa49-26f131dda85c phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:13aebe1a-9e40-4031-89db-fee4ccc670be phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:c76ce2f5-e6f1-4020-b47d-0a6776c5b705 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:631ac67c-df6d-42d7-9752-17d2a2945e06 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:84437420-3ae9-4f8a-b220-1614350b28b8 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:d64452a7-f639-4e44-8221-6a684d6a15ed phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:a31749f9-e816-49e2-a591-cede366f261f phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:26e0b270-3fa5-4fca-9c36-75151bf427a7 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:1a99f27d-6ecb-42a9-b77d-20374d43ab10 phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:d0d58aa5-ab48-4652-a9b0-e787b5000634 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:28782633 uuid:20fcffec-9c84-4abb-8cf7-fe3a8cda57fa phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:8a2505bf-a597-43ed-b2ac-a0a1b0aa4136 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:ca7a54cc-d49a-4e5c-b56a-d791761549ce phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:d00ec6b1-7321-45a8-97ea-84e47a49b65e phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:0b17db24-163e-4690-bfe5-335cc3b4936e phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0410302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:090feb82-f16c-4379-a8f2-3ecc6ca424fe phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:a78b9105-c281-41fa-9c01-d94215cba6d8 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0410299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:b06f4f13-5275-4388-870f-d8eb066bb84b phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0410297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28782633 uuid:85986016-7852-4f9f-af49-887efcecde7f phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0002837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:412c5f7d-3869-4181-9f67-752f8f1e83bc phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:57ba2138-dc7c-46f5-8a0a-6cd7b4eafe2a phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0005215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:90f91001-27da-4d54-8f1c-dd465916a865 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:3e763471-4160-4606-99ed-e24d97c784da phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:e91433bd-5730-478a-a666-fbb1ba350895 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:99e5c905-e681-4c37-b20c-2bd27590d330 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:f86e708a-9afd-47c7-9ce3-d3ee04c4d091 phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28782633 uuid:09ca045a-be19-4572-a4d6-aec14603798f phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_disease OMIM:620670 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:28782633 uuid:745d5d50-018d-4987-bf45-1e5c1355b68b phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28782633 uuid:e658f7aa-63ab-41b1-8772-b53b89c49a87 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:39135939 uuid:ba39640f-beed-4f01-b7ce-00914baa718b phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0004319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:39135939 uuid:b2869ca0-f176-48ac-87fb-c952af256853 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0002153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:39135939 uuid:8ede1f73-ccfd-4f19-8001-d7c0f44a0b02 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:39135939 uuid:2838932b-6a8e-471f-8cf5-b866edebda62 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0004737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:39135939 uuid:a2d0c776-51bb-4a11-a0f2-13d7c06c822d phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0005576 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:39135939 uuid:b9571d35-685a-4cdf-8806-6032ba7eab25 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0031266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:39135939 uuid:195d70a6-9e02-4ba5-b8c3-760755bbae8e phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:39135939 uuid:1c854df7-b50c-4007-981a-6e3c987a2bbc phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:39135939 uuid:45fb6079-5aa6-4ba7-b93a-55c08ca2617b phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39135939 uuid:f2815e31-c9a7-4fc9-9036-4c05950ecac7 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39135939 uuid:a9ca6181-b31a-4724-946a-4ab622fa5a20 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39135939 uuid:507cd28a-0491-47de-9a99-14a9b0a387f0 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0012606 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39135939 uuid:4b2be227-c7f9-4407-aa0e-ee41c41352e6 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39135939 uuid:ce9ca10a-f3a1-4dd0-8eab-73d6cf06c75e phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:fe854c07-7f21-4beb-b524-f2de62be968a phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:65202106-46a7-41be-ba40-e8afe46ce7bd phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:0eec1e83-0ddb-4283-ba38-42aaa7da70a8 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:206faeae-c1ce-4029-8427-70ec1b2903bd phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0040084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:1fcdcb84-1edb-4f79-a045-d9f81608be31 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:4d003bac-e440-403c-ad30-50f07f94af14 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:02221ed5-1520-479a-80eb-1db3acd46000 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0002850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:67f2994c-5d8e-4d91-b07c-274206960cac phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_phenotype HP:0002720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39135939 uuid:4c45fd9f-4615-487c-ba8f-08ca55d7b22f phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_disease OMIM:617056 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:39135939 uuid:9ec46f11-8dd1-468b-9965-e0712f298ad7 phenopacket.store:SEC61A1.PMID_39135939_patient biolink:has_gene HGNC:18276 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39135939 uuid:e33d099e-25a1-406d-95ad-bde89be6da7e phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:31251474 uuid:2ad65699-fb8d-4b88-955d-111ed408a3ad phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:31251474 uuid:8a21a373-8e4f-4717-b4dc-0cd895d4be4d phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0012753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:31251474 uuid:f16d5b0d-03d7-4a83-8ff4-bf19739e4dc2 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:febb0f3e-78e5-44a1-b0d9-5696ad49650a phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:ebf26581-a619-45f2-851b-9ae9ba631a7f phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:92dc155b-2efc-4fbd-ac9f-acd453c1e3cd phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:1caa4bdf-091a-49c3-8e43-3d72d41a4b0e phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0012157 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:1657aff0-a551-4225-b13a-b7fcb72d8efa phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:a33e6a67-7462-40a6-a6a7-dc11ecab2003 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0012708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:14d06225-35a8-49d6-b841-3c4a30900e80 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:575d1131-8e38-484b-8127-7dadb5187bf1 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:75bcd2ca-0cbf-4566-840b-500f3369af70 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0003535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:d0626547-8b28-4ae4-92c7-0eea21e83c53 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0003344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:1a421e92-0809-45b5-bc68-3b4fd3020da6 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:31251474 uuid:d5f9ae4c-187c-46c9-8b98-9341b38a35df phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:31251474 uuid:ffa26b6e-52ff-4837-9c11-486603fb5caf phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:31251474 uuid:b317aff4-cc44-40e6-b04b-9a7c75b1dce4 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:31251474 uuid:aab2a01b-e746-493b-89ed-9d9932e2de36 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:31251474 uuid:852e0f72-5a41-436b-b676-354b48562d43 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_disease OMIM:614739 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:31251474 uuid:f03139dc-9be1-461e-8f5f-c527c6f1c999 phenopacket.store:SERAC1.PMID_31251474_proband biolink:has_gene HGNC:21061 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31251474 uuid:37ad659f-8ff8-41b1-80ab-0353c2e0987f phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:28c8c034-b27a-4419-8b1e-86369e89e670 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:2c529787-69d3-4a3c-8308-daec9e62aecc phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:677ef367-26fc-4883-9eb9-ee9aee034394 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:6a15ba79-beb0-4351-8412-675feb4567f0 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:2a9ed1bd-02b3-4b1c-9f07-11a7be26916e phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:54dd59ba-c720-492a-9bf8-558047af7e53 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:75dae1a6-79a7-42c3-978a-5ad4b75c0cd4 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:2ad73884-82a6-4cd5-b3b2-9e37b9f297fd phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0007082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:a4baf745-685c-4f37-bc52-4c5ef549708e phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:fb05b9ff-4745-46b2-9daf-83942993cf9e phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:75835e98-c04a-448d-a30d-738a5e9b7017 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0006487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:e90a921c-aac5-47d4-82a7-45cffaf9447a phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000885 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:9264770e-056e-4a7a-a05b-5194355a02aa phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0011648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:8970b095-feaa-4271-8c05-01a817039db2 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:af6f9d5e-c6bc-4847-8df1-1888919145ee phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:574e8494-a4b9-44d9-a369-9a45d61059e9 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:cbb98937-5bb1-4c66-8ce6-0710c73bd40f phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:8b9d2714-525f-4fa7-b09b-a3c0851383cc phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29333303 uuid:ad21ffc7-3125-440f-857e-1237b46f1c29 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0012714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29333303 uuid:f21675c9-f103-4e4c-98e6-81b528e0b82a phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29333303 uuid:e6531045-b017-4ac0-ab69-d69c5a6a4890 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29333303 uuid:b38830d7-2302-4c56-8535-56f8787d3d31 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29333303 uuid:ee6d69e3-7fd5-4468-9ae4-012c797836e8 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:29333303 uuid:2ab24a94-bc78-422e-95b2-ab06c5ec726e phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:c6ad37dd-0a52-4e80-8909-2f52d175c141 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0010945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29333303 uuid:c51312aa-1a70-4152-8747-13204603c0d4 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_phenotype HP:0001098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29333303 uuid:510955ca-eece-4ad0-a1fd-2dc248edbfc0 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_disease OMIM:269150 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29333303 uuid:0411200c-a704-4fab-83d0-b78300f91f27 phenopacket.store:SETBP1.PMID_29333303_proposita biolink:has_gene HGNC:15573 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29333303 uuid:6e78175b-4e30-47d7-8d17-4b01f21fbdf1 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:50b550d0-0a2c-460d-b52a-f94e834b0ef4 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31643139 uuid:eb278b2a-81d6-4eaa-b822-f813aa748784 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:31643139 uuid:fcec21fc-941b-4a4f-a061-9d6485a97637 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:477360a4-6c50-4c90-afbd-68008a3c76cd phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:b00b535a-6391-41a8-a366-db2aa5228758 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:3e0e813b-c08f-44b6-87c9-536c349f9e3a phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:4639985b-e731-408f-8f90-43da8d698cba phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:5823690a-8f1c-41f1-af73-cbe05d5e5213 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:bb0ef237-1b9d-4d52-acb5-8b0b7a71082f phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:908333a9-08f8-4f6c-a12f-7350baed5cfb phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:e75c05cb-8af2-4a81-a280-f8cb9b49e008 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:490930f5-2c17-4d71-bac3-52ff3791d2dc phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:49deb2dc-0e9d-4db3-99b3-8bced9ad8c05 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:72865491-23f0-4aa6-8d13-776cee670330 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:35bc9e6e-b176-45ad-afe9-d80b7ddc6a4f phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:1d766c19-5996-4fe3-94a2-573720936cc8 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:37df758b-7209-49b1-99f5-0e3436501c1d phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:8473b2a3-557c-4dcb-a712-ed3c41b34fbb phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:c31bda67-6e3a-4206-94aa-1ae3fe84dffa phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:206b6ebf-bbac-45da-a6e4-1cfb666342f5 phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:f4c693da-96b6-42ef-8991-049f4e90d4cb phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:896ddd68-9ba8-451c-a15a-76a56f81fd3b phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:0638e536-0387-4467-bd66-5424261bab99 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:3fa13c6f-1055-4390-acce-4c1807ecedba phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:ae4c6e98-acc9-4142-b796-5e81e6343e2a phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:87ab232d-1ab9-4d11-8191-23a459cf5e04 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:bdd4884e-77f6-4bf8-b8e5-27851d82ccf9 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:2fefad56-0c53-4892-9369-e4c9429e6220 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:09db7467-4385-4c43-ae0b-5bd1d60e2142 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:a41dacb4-5a3f-45c9-83cc-7dccb92bb12f phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:2a0cef56-b654-47e9-9fe7-329cfd2dd495 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:98b1c747-c6ef-4d59-be40-879fa067a87f phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:4eef0f92-b355-4f2d-abc3-1bee805e1db2 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:d0878d2f-0724-4d5a-b7da-4f6eb1092a71 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:53d1e209-3061-4d10-aef8-3c5b9610d03b phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:312d705e-41cd-45d7-bef5-50bd0075e6ab phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:a45e3851-3f58-44a3-997b-03703622f06c phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:dc3d45c2-5360-4753-a02b-95ab90eb8e86 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:04e3f1ae-fcfa-4f30-b434-f6bda33c7922 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:8ae514e0-1381-42d5-8291-57c7d19bf62c phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:eca84a6e-13e3-4df6-9cd8-863ef5e63996 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:9179c68f-6665-436a-a251-2a17d423270e phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:2cebe0fa-c986-4c20-a667-95e2375da2c7 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:b5b17aa2-119f-4958-b60f-81c09e6d7871 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:fc88af83-3cba-4e59-b0aa-c29ec41709a2 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27479843 uuid:77f16017-d16d-43ee-9e86-8e10cf9d8184 phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27479843 uuid:7f576bb3-f14d-43cb-8739-7bc2b7c5fbc6 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:505b1342-7b6c-4ee6-9e18-6e51b07a4b62 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:922f5aed-88b7-404f-b81c-b6ce141f7737 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:bc53fad2-8649-4624-9e24-53e63b0cc678 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:62c0b281-113a-4166-b401-832e691b41f7 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:088273da-aac6-420b-a2f2-e84b7dc96b28 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:8e45303e-f300-4205-b158-839ca29b7f72 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:93dec2cc-4f26-474b-b6f2-5e1001c34c3d phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:aecc7c96-74b6-4321-9e6f-c92a8eab76b6 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:804287f4-a5a6-4a14-a7ea-d6a3d135431b phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:da294c21-ea35-4b40-9c10-0bcc55a2f1bc phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2f5a9895-ca40-48dd-9c4c-da552c67bc13 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:46012bfb-592e-4b7c-98c2-dd4eb1e1607d phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:646d3654-2a95-47d7-8087-7db2ebd54575 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:123c6f74-75c6-41d6-8df9-4cb337190d97 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:30621e6d-3026-45e7-bf79-649c11dfa78d phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:965015f8-5d4d-4095-a583-7b9eda26d3fb phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:528d67cc-70e0-4d30-807b-ae4929e96c11 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3c9a8165-a72f-42b2-a8bb-fa66cce44ee1 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:96ca2581-7133-4ac4-bbf6-6487a5d51b73 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:010512f3-3c0c-4c4a-a3bb-6ffce09421e5 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0af942b3-7e8b-4b8b-9f47-7222189552ee phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:17aa0f4e-b885-4245-9c9a-1bd8ecf1aa77 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fdf8acf9-bda7-4f13-963c-37941c4b32d8 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:323229d5-0c3e-44d5-bfe3-fb50999b78ec phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6ae8e8a1-b43e-4b67-b774-22bda552fcca phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:95b8fbc1-38cf-4308-95e4-af1a924cf6c4 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fe03a184-3b69-4f46-9279-85d44be309cc phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5b669597-46c6-4e8e-9118-05772243cde5 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d666a7a2-4489-4fbd-94ba-76f861bf4c78 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:ab6edb02-56a5-460c-ae24-695ba05294d8 phenopacket.store:SETD2.PMID_37372360_P18 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:00040381-bcbc-4829-8ec9-0feaacadf8fb phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:31643139 uuid:9d14bd0f-f153-41f6-8ed1-f3cdb3c244f7 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:e5acd8f7-8e06-437d-b93a-811f60e1d34b phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:3518c07f-f302-4ff6-98c6-9f88f83066f8 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:445500a1-366d-4e49-b97f-c657455078b8 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:1d7049c4-462b-4eae-9e3c-cf2541e001e5 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:4fbe6db1-d332-4176-9473-b20c3fe43d2e phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:0fb8ca42-220f-4e27-a874-bb73fdd64539 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:eb35a2f9-6ecf-4f3a-814d-36ffd911d526 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:91758232-7f5f-4eeb-bfc9-0c86fff49078 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:69721897-8b35-486a-a011-ab3550776476 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:bf2f0eeb-df80-4fd1-b37c-7e83703f2cf9 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:3ffdfc87-f771-4e31-bc75-57809bf22fa5 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:1abc75d5-7136-44b7-b026-6d8b672ddf3d phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:bc445826-4738-4328-aa77-49d6f048da6b phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:cb9c79fa-daea-42d9-a97b-5cd4737807da phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:dc56ac4b-9e1c-468a-b72f-fea46b3e7754 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:44313b9f-faaf-4041-abcc-90486f634af1 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:4f21d799-92f4-45a1-8c68-20ca84d640c5 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:475d3956-60e1-4840-b700-fca92e9f6e70 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:ba4bf6f1-b237-46a2-989a-a62f4ba1100b phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:7678671b-0d2b-41fc-9eab-92b3f78edf37 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:1c447c8d-7215-4de1-a74c-ca604b5e83ae phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:70f37c8d-376f-40b0-8537-5d6675aab26e phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:8d9d38c8-d58b-411d-9a54-1db5a78a8fe2 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:f7a48e2c-2769-4716-b388-037f09673053 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:e02c2179-1e6c-4ed6-90ed-7867d2a2685a phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:6c52b3d7-a9e7-4fca-ac76-074f7710e9a0 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:31643139 uuid:f3f0fa65-7f86-4df3-94a0-c28c2754bbd3 phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:956222be-e01f-4aac-be82-362864045061 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:6cb6846f-c638-43d9-a69a-c764f7caec04 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:ac75cfec-a460-4074-ae34-60d8d6f88f88 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:fce36e48-4fbe-42d4-ac57-b39a9ccbdd93 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:c52ad9f5-29d1-493b-970b-10c4202e66be phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:776e5929-8fe8-4191-8230-b0565c92a33a phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:33b34422-21ef-490a-95d2-571efb3b4093 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:b8f81223-e042-4f72-b699-57c75f19374c phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:d9ac1937-6a95-489d-ba00-6f2d2698abd0 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:e0abad96-d144-449f-956f-59a1dd88f8da phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:7ff53d28-8f1e-4119-9766-159977271b8f phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:b21684ae-c744-40c1-8064-b7f2a148d51c phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:d48b3d6f-fc0c-4348-af62-c46e2d391305 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:96bb6806-3ee8-47ac-a32c-f028fde3aa9a phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:9ed756cc-1793-491e-b77d-9a5087161b8b phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:04064e0e-5776-431e-84d7-07a8942c0809 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:dbbff48b-1cf9-4f0e-be5c-9af07347edda phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:b8e15de9-33b1-45f3-a035-222b56110047 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:ebcf3948-27f9-43e8-b3e4-00c36019e7ca phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:ff8be2e0-3a3b-4c8a-826e-e72274879e51 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:95fe710c-654c-4ec4-b651-037a9e4b02e7 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:f68e21de-a632-4911-89e3-c2a879d90627 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:bf9de16c-f17c-46bf-97ef-b795b06a5186 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:e8218f97-9046-4c18-bc1b-060bc184428d phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:34705c24-2406-4b5c-9f99-678d537ee7ae phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:ca744684-f5b4-442c-a212-66814428ef63 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:d6055b84-8b6c-4904-8091-e6561d84afb7 phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33766796 uuid:2642dfe0-a649-4c9a-8b0f-3032ea60c9da phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33766796 uuid:560758d2-b167-4267-8083-8ef9cc6efe37 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:c73e3231-0baf-4bd1-b1fc-f2c54116c6f1 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:6a02c863-319f-45d9-b620-0202183b9c19 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:2acfd2eb-a15c-4815-b567-ba25dbf90b37 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8e65e57b-affe-4b44-9abb-047f4e56cb7d phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3c2efbb0-f4f8-497d-83e2-3e78f6c94f15 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:bdd82e7f-043d-4597-b968-a2beee008a77 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:afe1a94b-f4a1-4ad9-907f-c85d2a07fde1 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7f5c1ddd-56cf-4d2f-b4fd-04e0e4722e8f phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f576bd6b-8946-48b4-9321-479828001f5f phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6a595a55-de5d-4fdc-8615-94c8376c046d phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ed06db19-4b5b-40d2-b1ad-beca1a5a3a9e phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0d190a13-0fcf-4f4b-a614-a230b11f850e phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b05061de-4d44-44fd-a4d2-e55f99592179 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b215201a-2633-4dc0-8f74-9fe7b2ac9e16 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8d9bc47e-ce90-40c0-86eb-482f18718626 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b5904bbe-55e7-4311-802a-a6cb69f23b56 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:053f115c-d9fa-465a-8d24-82c7c3ddacc7 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c593b0bc-7afc-4978-a58c-237c1e6b3add phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:76cc8417-8637-44c5-8b32-b3fcf9cb7ced phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:865aeb87-1aa9-4bb6-8624-df179b728ee2 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ab5c18ee-629e-4008-b1f3-0fbeeb3e62d6 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6632e5d4-ab6b-458c-a012-7e609b5b89f0 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fc4ecb04-1eca-491b-a994-3cbcb2de0b43 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:9d76de34-e0a3-4eab-bc2c-0b8abde10d97 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7b32689b-c002-484b-8079-8a76ef292d92 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:19ed4dd1-262d-453b-b4dc-1632a84a7b54 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:bdefb4c7-33cd-497d-8673-6364a12fdb0d phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:25ab336c-ea7a-4378-8ae2-c83acfb92887 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f49028bc-01eb-4354-be00-2649ec20b40f phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e57cedba-dda9-4fb6-9fca-8f0e8e56f920 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:57f321cd-3f68-40fd-aac9-be15fb656188 phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5ea49d39-bc78-4aa3-8072-e42ac792940d phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:32d31b9d-cf73-42f1-b6b5-32a1b963b86d phenopacket.store:SETD2.PMID_37372360_P14 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:2243ba75-27c1-4329-b33b-6641abc24cd4 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:51c476ca-77ed-4748-bed3-bd02730f181d phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:5e3e810b-4fd5-41db-9cbe-507af77438fe phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:c3bd5b18-82bf-4a40-9657-34a5e5068c34 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:19f75bc1-5fbf-4633-8d60-9c1f08c7754c phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:e254391e-600d-4438-a121-55eeb2566f41 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:9d430181-7bac-4897-95c9-dfa51ff2e12f phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:7842e9e4-6180-4cd0-9d0a-a7d0e2ef2721 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:ef0567f1-aef8-40b9-8d3c-ba220b37e3e6 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:e7d6f723-5ea3-47b5-9e3d-14e3ca888975 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:410406ab-b7be-4516-8359-e412b46ce577 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e5e5d3dd-95db-4e0f-a1e3-08eaf929efd0 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:07dae93f-a97b-4caf-8641-0b9e33a5bc3a phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:08a7f88d-a238-43e0-9ca1-70ea61bca1e0 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:33ac12d6-e505-4742-be9f-5ac92b20d568 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:102c1efc-e0cb-4214-bf1b-72609ec71fbf phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:04c8d34b-3632-4af6-bb2f-a3b3cf208737 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:778d5b25-f3a8-4589-928a-946b8e0bd9d2 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e899938f-4f67-4acd-a8fb-685392f9530d phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a836a59d-85f1-4f23-8e2f-90cc5983ee20 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d1cda34a-31e8-4854-b84e-b67918107ccc phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f632e572-ba3b-45f7-bca7-b77e60058fe9 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5ffa533b-8267-45bc-8653-90359084a771 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d68d8615-c0f7-402c-ac1c-f8ba3ba98026 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6a824b28-420e-4b2c-ad9d-68c5ff656f73 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:00c0b08e-d3e2-4bb0-a86b-08a04f7212ad phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f27aae7c-0c0f-49b2-b761-adb20069ddb4 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7aa8f478-b54c-49e4-a463-06c769378035 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3ce2ad8c-1af8-45b1-9442-4d8343660763 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d9b7b10f-15b0-49ce-86d2-8e27ed944361 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:27f5bdc6-2cc8-4018-86c3-12c442c1df26 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:bea3a665-e363-4fb4-ad11-4a3eaaf039f7 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:83a79234-2307-4de3-bc49-7e7be105598e phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:fcdf4ae1-06eb-4acb-94ae-59229ed23445 phenopacket.store:SETD2.PMID_37372360_P8 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:3c386ec4-7dc2-40b9-925d-a97ed2a59137 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:3d870acd-19f7-42f2-bfa9-b5865930c808 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:bb25f075-9396-4a6f-bfad-4916dccbb6f7 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:5fa130c6-e650-422c-a0a8-a4d7c2b1d0d6 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:2bec52fb-4b8d-4937-acbe-010d6f9392e9 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:04bf0b83-2e56-451d-82db-e3b2e2f726c7 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a36982bd-070b-49fa-8bb3-a502e64709e2 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ab8fc4b6-5fe7-4cc3-ac22-2eb9da9668c5 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c1208d6f-3401-4306-958b-10eb8fc642fb phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5484377a-822e-4a8e-b174-0842b5e49fb5 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:dac31e8b-0ac7-40d9-8fe5-582fe9fb4146 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:38cb8d7b-84ff-487c-ab5c-95205f6077ab phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:becd1c6f-89eb-41e6-9d15-67040bedaf65 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:aa1ea6ce-9fd6-416b-af04-67ed72ae0331 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:076b3605-7dbc-481a-8bf2-4b09ea625b93 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1ebdac2f-37b8-4dfa-8c89-b62ef455d381 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:51863579-2734-4d0d-b0d1-2ca2449a0828 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4520c005-db83-48b1-80cf-bfbfd2de657e phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0c0228e8-be62-4afc-8c18-1de9aa11e94b phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4451f5aa-f3e0-4c01-ac54-9e468cf35747 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:46794cf3-b865-43c5-b3a3-1d79884fee5d phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a715532d-d33f-49e4-8eac-3f9e12e747e3 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:febfd505-b7fd-44b8-a6e4-20fc3555b44e phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ad45608f-f055-4391-b17d-bd93de3bc53d phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3d46ed7f-3504-4050-b7d5-7e71edeb6422 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:19895041-6684-4792-ad14-8fd19ac10e60 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:02fa01b9-f290-4f09-9902-8cafd0986c3c phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e79fbf17-a794-4e97-adfd-87a361c54f36 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:88b1a4a8-cdd4-4c8c-a636-0a4466ed772b phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:949a52df-cb35-4e28-aaf1-404ae537fe29 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:69e67f39-aac0-4cc5-b2f4-4dcab1935335 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:92730987-4f77-43cd-ae55-5964b148d45f phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a478f406-690e-445c-917e-8fe83dfdf26d phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:0d3ea469-299b-424b-a8c1-979a033de409 phenopacket.store:SETD2.PMID_37372360_P7 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:52f68c92-ed1e-4ea8-9c1c-21a014b434af phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:19b4d240-419c-4cef-a938-c087598ee28e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:47476213-6ccd-4966-bf7f-83e69ebe9af0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0a7305d4-ad16-422f-a50e-607caa1d4462 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d9bd7c79-3785-4181-89f5-6d51532dce2f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f43825e1-c9b4-4e48-90dc-bd97f91b1c05 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5de9d23f-3f13-473d-86bf-14f375e46fd3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7a5f7980-12c6-4b26-b7f0-bb279520e2fa phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a0f63162-9eeb-4449-b2a5-fd0672e4cecd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7cb56dd0-c075-4ea4-8c57-e658971f88c5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6ec38ff3-61da-44b9-b725-3c71ceb22d90 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:166df5de-998c-40d4-a83c-4f7f44bcd9d7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4b4950ef-2910-48fb-8fcb-19d14144054d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:47cad0aa-dad2-4aff-99e0-6c482d2e8c75 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:978a5703-c00d-4893-9df9-bd9e3a39b575 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5acb6721-05d9-40fd-ab03-547d070e43c9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e8c74b6a-9156-440e-a6cc-1636ae137521 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:bb68a4da-0a57-4b4f-804b-f3eac09a44c5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:389b0c6b-24b5-4a46-8959-1817333af0bb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ae1ef310-cbee-43bd-9a9e-88c49c5ebc2e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:446877f0-59b9-4b11-a6fb-d1e68bc627ed phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a132f118-b90d-4de7-8b0e-9884863b1038 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c3d5becf-5654-4669-bbdb-39cda81e65df phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:76a28c3f-978c-4187-87c1-575becc209a0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:cd39a7b4-9592-47ff-9008-7239f87edf82 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:091d4ba1-45fa-424b-9d5a-48bab46f889f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0ce9563f-73f4-4973-8fd5-406393385a2e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:362e3d9e-fa24-4ead-9455-e5921e637e8e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:18d6789f-5bc4-4375-b655-eb0ee3db9db9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ccd6adc8-2105-4b54-be6c-07e7b7db4a87 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:48842c35-4458-4085-9153-95e59da8248c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f9e6d923-72a2-4ad4-acc7-cd2df5c3a90d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e2d96d49-3eda-40bc-bcf4-76e2323a4fc6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:33e8281f-3882-4949-8773-7d45b2f0d2f2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d8db44e0-fb11-45a1-9ce0-33a577f26656 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e9f73781-7e3e-4afa-93e6-b9ffb874eced phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a3f43dd9-dd98-4a7f-a031-6600d26977f9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:47581ee2-f056-403d-b700-360c8fe03379 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c5be0b35-f876-49df-9087-0baee11502eb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ec3b2a51-f1b9-45a7-b298-97ab76ce28da phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:48cf6d92-45e6-4c4e-abb1-e0535db1f7b3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7a7acf39-f52e-4efb-a78d-a916db8655f1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8c921c2e-057e-4ec9-906c-3b108fc9a0be phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:36304b77-bf40-478a-b65a-d6d9a48a8076 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a521a470-b601-4ccd-8d41-8c74b56f1bf9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:083d4be3-0b02-4808-800d-9039721e2f6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0113e770-cb22-4dc0-bef8-9703e6b09486 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:84286a35-291d-4d92-b9c1-4af1d56bd2d5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c8fa728d-1b76-45d4-aeff-257731774a88 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0004712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ba1c1e7d-d550-41a2-9ee5-ca5c570332c0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:35502c19-e759-44d6-8e90-ae30c03b4e64 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b17e1cf0-c887-4bac-9114-c4be88fa042d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:49c41c9b-fea9-460d-9a6e-82ec27a35d9b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f3faf5ae-317f-455b-8f08-2547782f8540 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:cc2671a1-e322-40b0-9278-0a698f2bb615 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:443ae5d2-74c1-49da-a738-89a4b6223a3a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f9e350e1-38a4-4263-906d-84d669b75386 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3f0c6edd-c8e5-4921-b274-8ed32526ae80 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:76aad9f8-ea2e-4cae-850b-32d3d2e31dec phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a2e0b1ef-e78b-4c36-ad82-16cc3cc83ad6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:52cc08ca-77d3-45a6-b41e-b3021370e3d7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1118c953-6a7f-4821-a019-2a4e9c22d81e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:749c75ea-36b6-48e7-a3d3-63480d12c276 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:910becb3-58ee-4737-884d-bf58d1095fe4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f02a8695-4f08-4fb1-8d3f-34008baffedf phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:426adce1-c868-4ab7-94ef-e9917ebab607 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3d951b31-4068-424d-9eb8-a23295da6175 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation P2M21D infores:phenopacket-store PMID:32710489 uuid:733eabbf-b8c4-4d77-a8f3-b19f3baf1c33 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:814bf742-45f0-4717-8b07-9727da5122d3 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:6d72abb3-23e6-47b1-b158-e5c42d2acdb9 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:abd49c45-6df8-40e0-94f0-98b357ac252e phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:53c0f41d-7877-41aa-a6aa-29e6a17a44de phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:efc96042-2c62-4eed-8ade-83a85da3fe8c phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f68f51d1-4c82-4a82-b6e5-c2de973a4293 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:874ffac7-10df-4a72-a391-b84cf85f1f73 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e77b3cc8-4d1e-4290-9bd2-c7e61c62db22 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6a6bc0a7-caa8-442a-8ae2-33c0c539d1fe phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:91606847-7134-4d25-bccd-28d4154d688f phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5cb2d271-b5f2-42b2-b261-35fee5661b5e phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7f85aa6b-703c-4a14-b140-6a524afe0fbd phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ff28196f-7ceb-4b5c-95cc-419a3d9d9be2 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:774ea038-ec2c-440d-b6eb-1f14b7d1d844 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:081657e6-ba12-404b-9414-1363a810f1a5 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:82309aee-a64e-4c0d-b692-2ea6046e162d phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:9eb54924-05b3-468d-bc2e-f77c73146b66 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f664cc41-741c-404e-8791-114ce0527ae4 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ee5c0a01-640f-434b-b67a-be96212a0ffb phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7072da10-a713-437a-a316-49e45dd23f03 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d884fbba-d775-4830-8e9f-90d8bd0da3ff phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:695a0d74-4e1a-47c7-a479-45357bf827c8 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c2420e40-9d00-481c-88ce-47bb15dbdf42 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a84e8f60-a635-4098-b1c3-8b04c3d608b9 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:eb3ca270-125e-4ba8-ba58-325672aae94b phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a52cdce3-f1e2-4b2a-adda-8c34adae9e7a phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8a6148df-014d-4732-b498-0daaddf3d5ca phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:da08e14f-42c2-4c6d-a071-032bf25dd6a7 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:016c4ab0-7726-4ba7-97dc-94586dd43ce2 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:69ba09df-acb2-4a9d-a640-847f19a4d63a phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:026a68f2-9886-4a83-ac27-3296bca8c492 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ae0bb1bf-7889-4c51-915f-fce8fdd1765d phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:dae710bd-06ef-48a9-91f9-9a328183e6a0 phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:fc3d6327-11ef-4917-bd7e-42fd1204db4c phenopacket.store:SETD2.PMID_37372360_P16 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:d65fb225-d003-4f77-81ed-2630e7167da3 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37025455 uuid:16312af4-38e7-4c55-a537-639042fbec9d phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37025455 uuid:80e75c49-a52c-46f2-9f46-ee10782d4a87 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37025455 uuid:b3a97e4c-5fd2-4897-bcae-6b9b041b63d1 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37025455 uuid:1cbb13b9-3c62-4125-bab5-2d263dd4c58b phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37025455 uuid:2b301b0e-d18f-43b2-9e14-5e34624f0f17 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:46d46293-1a3d-4fb0-ac39-77eef554d86c phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:70460e6f-c2f5-4246-a98f-8f915b5e41ac phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:9413e048-d958-4c0f-a64f-f110ce5331b6 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:65e048d5-922c-41ab-b319-54658435baff phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:b51744e8-2d27-4259-8d3a-0b62a8a91199 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:2c20fa5a-ff01-474b-a4ca-93fc34bce23e phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:318145d1-654d-4f1a-8702-07951f59470d phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:7d4cf0c5-809f-45e7-97c3-884177b66050 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:b4ad8d54-5bcf-4f3a-b985-97b6e704f47a phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:091593ef-dc17-4f03-86b1-a31c723dffe5 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:c8b540df-83f6-42dc-820c-987691eb4fc0 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:d0301b1c-f942-4675-940a-4c3a7da72bbf phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:7d55581b-d958-4765-9e36-68fa2a288b2e phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:ce2cf190-db9a-426a-b5ec-00ef4925fb93 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:dfc83af1-2ffe-4f23-98b4-bab48fc01b15 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:938bb311-65d0-4d41-83da-2276c08bb2af phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:50885db6-d026-4ac2-905e-5daf3ad7cbef phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:14965d4e-1a62-42ac-abea-82ab812996f3 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:3bc3c66e-d98e-465e-8c15-ad2625daf9bb phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:ba38b997-bb65-48b8-91c0-c7f85a530c1c phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:f9d09fcc-21f6-46e7-89c2-e6690c902444 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:82f5ece1-109d-423c-82ab-de2f7eef4258 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:88d650eb-4908-4ba2-9fe5-a37851b956c4 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:63c82d4b-25a2-4125-8139-3fe5db3cc5cf phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:8c9252e4-2349-4dda-8f5a-273d10cbaeb2 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:48039fad-d724-4ea8-b3df-04278429d931 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:2b7ec13f-aa71-4065-847d-dd1013de8575 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37025455 uuid:a99fdcc0-d1c7-454f-9bfb-559a8b0caed5 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37025455 uuid:e8b9e2ad-291a-404a-a6fa-2c87e7539443 phenopacket.store:SETD2.PMID_37025455_proband biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37025455 uuid:259d282c-1b30-4d14-9dc6-618252efaf13 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c5dae339-9fb2-44a1-81b8-6483538b9e34 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0bd5bd91-cad3-45ea-8c9f-bf5a5805a44a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8970c507-0017-4316-ada3-ae0d0daedb9f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:27458e7e-22e6-417c-8910-1cfda49a949a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3ac2c7da-dd3f-4ee2-bde2-3fab70aef838 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f080b0cc-d783-43e0-9c7e-b35bc932da40 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fab2a591-04a7-41da-bab2-52286425b4cb phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:417e2a6d-c170-4ec2-a74d-69a76034b6f0 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bfb96944-32f9-41e2-aa6c-3b273663ab1b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9b66e1c5-abb9-4ddd-98e5-b3a1de5ed73b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:29b03f19-3113-4abb-91b3-8af46e34d1db phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:00a676fc-e8e1-426b-852e-7bebddcba988 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bad9d81e-66c4-4c3d-8008-6ca7f4306865 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f0c8d8bd-7a18-4645-a832-2b30e9c6f92f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c7173682-cf53-4f91-8cd8-7572fa835a84 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:91bb74eb-2a94-4a57-a546-568a761d5f65 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ed963873-7cb3-4c17-9e7c-40b43b073ddb phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:427a140a-11f0-4b8a-a9c8-e8f1d1d1d31c phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c0434b0d-c16b-40be-9da9-f05f8a747e96 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5123a3e0-1e88-41b6-964e-7528fd8f3636 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e5bb1732-18bb-4b25-9c36-1292b005b3e4 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d51aad31-7ec5-437e-9a15-5db88d0cf567 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:eec5a4e0-f7ec-4674-a309-0077f7e3903b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7c6bc59e-c534-479d-a3a2-ebaaf2ef5d9f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b7e8153b-3fb1-43ee-bf7d-06b90d1b98aa phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c0a6565a-3565-4015-a3ce-7e047c7ee6ce phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2623f474-589c-4130-a16e-a5d8f41d12db phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1c6e5a30-ecbc-4a24-923d-7bfb4f8800a5 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_disease OMIM:620157 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:829d332e-f6c0-4eca-ae03-d50a6b980a7c phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:291d4828-fe9c-422c-a64d-505aae9c1811 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:703dba01-b67b-4e8c-a8ad-5c68a644eb2f phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:fd78b111-15d1-48af-8ba0-09d71fc23c2a phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:7e8353e9-9c44-481d-b5a4-8423c833dfd8 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:cfdbaf36-16c2-4457-b054-745a6e4eac9e phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:35b0b492-c68f-45d2-a78b-87cd99289ac5 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:b11bab09-bdf4-4632-b93c-5933b4cd248b phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:d37102ad-740d-4512-8da8-b782199e9359 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:268913f0-2a74-4a21-bc6d-e0c958cf245f phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:7b6df72f-7db2-44d1-9c43-6ffca0e749a3 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:4effe81f-de2d-47da-94de-dfdbbe78f8d4 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:f2fc7a3d-bb05-4db5-a731-7279d0a2fee7 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27317772 uuid:b7f4c015-d93a-4178-8089-4328f64c6e03 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:aadb6984-2ad6-4c96-b877-14743ff7c639 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:7f4c2ca0-9e9a-4e9f-ab43-ff111e36b7ad phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:477798ee-f9c5-40cb-afb1-6fccf4c945f4 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:614b4e04-1eb9-4fde-8f7d-d23051004ede phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:9cdc2a70-acc0-40ac-8edb-0a51fc2dda2e phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:f68db04e-07cd-4066-a6c8-782fd44efc3a phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:41c70e22-f41f-4210-a341-5b0c18c5db99 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:7b61ecb0-2347-43b2-8e4b-96c38fc749df phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:c9c3675d-e2c1-4738-a7b3-55e41be07990 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:c02ffdb2-aae3-48e6-ac21-434923a6a0ac phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:039f067b-f1e1-43e0-8023-b99bbdda4990 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:83669491-14a5-484d-b83e-d878bb7595f8 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:dd1f0397-16b5-497c-a650-90847ebfb627 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:daff04ca-b9f1-4e61-a87c-fd949d99e802 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27317772 uuid:d4c82002-2b07-400e-8d3c-00365cff4471 phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27317772 uuid:cd9f4ce1-b2c6-4c4b-bddf-24872b14af6d phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27317772 uuid:cc0b1a10-0a96-4224-afd5-21298067683f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:bc3adb15-4634-4e4a-9ea7-93412a3dbcca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0759f7ba-af02-4652-b9fc-e761cbe5c4aa phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fa38b1c4-8d7c-4817-8e95-5f7bd8d95d36 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c9876f2c-80b2-48db-81da-aaa61357c441 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8a51ee34-77f3-4eca-a9df-88acbbba101f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f772b18e-77f1-4119-92ee-b4401222df1c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3f8edf97-4315-476b-a7f5-1d6bdfb4229a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:093573f3-385f-4270-ac30-2aace436eafc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c5f7c8bb-7e33-4838-80e1-23a23762f788 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:447b87b4-1761-411c-ae74-fcbc2d2cb145 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ec281946-a776-4389-b5a9-202728e98db6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ace1178b-95bf-4b00-8aff-1106d54bdb0f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:545fb593-35cf-4ac0-a952-dc084bc75dfc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:66cc1de8-e93b-40ec-bd47-a9347b00948b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:264f31eb-d4fc-4af3-8cc3-c98df0c9664b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c3b644b5-59b9-47ea-93c1-f76db6e14789 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:21307ed4-fcd5-47f2-8223-734271daccfb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:793162c7-cbf2-41fe-87dc-df408489419a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:26c0dda7-44ec-402a-b611-e6e0ad741ff5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d0119c6f-d739-4669-9b59-1b41e9c8d011 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4f41fe8a-c0e1-4d40-ae3a-cdf8f4c5e7c1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:16e1560d-c36e-46dc-9552-1c3d62d07193 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:653c5b16-9299-4131-a0ca-e2e462058eb5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:60b8f882-719d-4690-9460-a010c60ea7ff phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1bb00e15-7096-4782-9274-380f05bb0e86 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3a77b952-c768-4056-9573-3d0b2e532d69 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6c67a1d2-52f8-485e-a308-4c4c7c3dc483 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fcc7f68c-ff15-43f2-bfb4-3e77dce07ce8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2c6b2814-b6c7-422e-9388-5826e3bba811 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1ff81aa2-34ce-4e81-9cde-481dbb91aefc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a321f1bc-8ae1-45f3-84cc-0eed8990c224 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5a48e14d-c76c-4dd4-bc7d-7b44eb979eae phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2295242b-48c8-4d05-8af9-b52ba5213140 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:da5eefed-ecb7-4b28-b45e-007fec5da604 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ed9f2cd7-9bc9-469d-9ae0-6e16affb6f60 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:13c48525-f647-4636-bfd0-21459f1d601f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5bd529d1-0937-4ed6-b3fa-f5200e956dc6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:258e3525-3496-4cd6-943a-f3f4cc924f3e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:56b75889-5eab-4b0c-89f0-bf625cbab028 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c29c2771-a80f-4bde-93ff-9cb25cb3c102 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0100600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:61518117-059e-4680-bb35-4333f8388939 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:64e4b308-92ac-4292-9741-38eb32178e05 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fc2e8dd8-dc96-4169-9d6c-4ae73ab179a8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7c979460-7fb8-4efd-8406-dedf7758262e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0d3af8c2-3c95-4237-8a59-d8ee2fbfe958 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7a1251b9-86f9-4cb8-ab59-b1a4002c195a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5f21e03f-e36c-4ab0-a5e9-2515dba17258 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6447dffe-010b-4628-96e4-53265ffd08a4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d6b8359e-d5c8-4656-8417-3a6174716cff phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:510d448b-a023-473d-be8e-b0c777fc4376 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d0b99c6d-61e1-4799-9b6a-e9455c60eff0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7711c29e-6ac9-46c0-b71d-7edf0079178c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:25add51d-95dd-4f92-944e-a1bdae4ab08a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7cb581a6-0718-4f69-82bd-0f1897ffa1a7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c0b59fbd-ee23-4cb5-a1cf-6f6e88734b8c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:cade9f21-e923-4e9a-9b93-4f56016ead8c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:01b2261d-72ed-4a89-98be-dafca31b8fc1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fad659c4-60f8-4311-bbee-992d5449c96b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:20dd89a5-1808-42e4-ac07-a74810aabd59 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:e4581c57-61cf-4f9c-9cae-1c099cc2542d phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:4b4b83fe-a0bf-409a-92b5-7c8c4688f557 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:c0bce3c8-9615-4169-849b-9ae60b0b9e5a phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:30295a58-eb4d-4561-a775-7f56c1c24bd2 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:5a719de9-cb75-4cc3-9408-f04a09c5b0e5 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:9be2d830-65cc-44e6-abd0-e17134d59c5a phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:73c7c350-9ee8-4bf3-a654-d3705b6cb5a5 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ab5ec53f-9985-4d83-a130-14162342b6ec phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a2e347bf-1b22-4a90-9cf3-7f442be0eeb7 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6b9e87a0-c0b9-4ef0-9839-b676fcf854c7 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ebe131e4-db9d-44ca-ae52-33c402449345 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f446465b-5129-4d3d-bcf9-4ea5caad149b phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d0dd6827-565a-49ad-866b-3b844d1b8705 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:43050300-97f9-401e-9c67-9137ea640d6e phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4a286aa2-c320-441b-9bb8-aa0a3625398c phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7bea68a7-064d-44d4-b907-5879e6d8c8ae phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:98c812b1-e690-41d6-9c06-e4e13f91e22f phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d824e394-6cfe-45ec-ab2f-32a40703573e phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:96bc390e-464d-4967-9212-c5cf14faffd6 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:585bf122-46e9-47ae-8c8a-198db6f1b313 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e3146ce7-b543-4282-8c50-9754ed166dd3 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2dc06fc2-c1e1-47df-a1a2-f1df10243707 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d51d4f7b-b5b3-484c-9ff3-a63fc6fa3868 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4ce52398-7e16-4222-8371-89dee397cc31 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b50ffa2d-4cb2-457d-9b80-b0f88c942af8 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4949602a-c8e5-49fd-9842-2844464afd68 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5239bc67-e8e8-424e-91eb-e8d116a4e7d1 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:61b6fb3a-19a3-4e4f-9f51-b3e783b01bae phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:02482435-120b-48f8-8318-bf54bbe18473 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:52c602fd-3a86-4177-a9b3-94b1884a15c0 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:847957cb-68af-4ed5-ae65-d40e9a56d790 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:bed616e2-ddb7-455d-bd62-bd37ff2eac15 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:54efde34-5f42-4aae-b921-5b131de1a605 phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:123258cd-d110-4ce0-9d38-f26265ea214f phenopacket.store:SETD2.PMID_37372360_P17 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:58450b7a-4926-4c6d-a824-4594cc623bce phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:d277b277-5ef4-4154-a7bf-66ec7ea01b6f phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:9401c249-ffd2-4b55-8c4b-6e690ce6a8d9 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:31643139 uuid:3b1af3e7-d127-46ba-a4ff-e12e55115ef7 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:31643139 uuid:99f15e89-13d6-4f61-b882-6a5ab3972fc7 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:31643139 uuid:9fcfb8a7-c859-4c5f-9ade-e842b655a727 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:3ca493d8-e08c-4a74-9be5-a36311ba9e16 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:8a18102c-15ff-4d33-9d4d-1c7ec8b678d8 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:e81e9b04-6207-4959-9761-713bbf94f17b phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:a822644c-023d-467e-a7ea-161861537102 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:bd725915-9d39-4daf-a585-49bfe1a3343a phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:fafba143-91f4-45cd-98e0-f7f93b2789ba phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:5141accb-b72f-46ff-8cd7-6c65722f6e88 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:9d93efd8-d4db-46c6-940e-a8aa83d471aa phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:9b88336d-16dd-416b-819d-728e0b3c2472 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:544033af-1b25-44b9-b9d4-aa2440709243 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:4f50f5dd-23a2-4797-a3b1-a1bfec0a3323 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:c09e873f-8513-4c28-9308-6bce4a698ac4 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:e0cd23c0-35f2-4f99-b047-90337a7ee174 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:f06c44ed-ce2c-4439-872f-054695898abb phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:84b731de-5877-46a1-a2f1-c2f409b2e115 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:089d994a-7c6b-4289-8543-35b3a8d478b5 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:c060d4c4-926f-4909-9659-d7e375f49dfc phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:64e685cf-9a32-46fc-ad13-9df844970141 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:59013a79-ae7f-431b-a8de-daf2e398ca9d phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:da853379-68f5-4ceb-b55d-5e21996a2c45 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:5f1fed57-b7a7-4b92-869f-b8c8a9609fd8 phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:a9e82e48-da14-49ed-afc8-f4a27e52692c phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:241f0424-23db-42f2-9e14-03b1837562fd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e94458c6-c2ae-43c4-bd52-9e98d4ab4a9c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:68691f92-6468-4e78-b4a4-3145e7e1c123 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:500e3bd7-6072-4374-a571-1d7876b5bfaa phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6bc44844-d625-403f-9c70-749ee8290f72 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8a431178-998f-4211-87c7-4b6fd0e0d195 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ddd57630-5bfd-444c-8bf9-99a1c7c86cde phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6285014d-fb3a-45e6-9b5d-54f73204d5a8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a458df89-a3ee-4c64-9372-3d5ae5d588bb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:03a4adf9-5c9d-4da9-b41a-dbd18972e8ec phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:be13a498-c6fa-4228-9c19-ff43d3234e02 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:766891fc-0e05-4a98-8c78-bf990b1282e9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:96d2a964-4c72-4dcb-bb01-3dbd2f0c62fb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:87b579ba-a829-4686-9895-4ac7b9f5cc41 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4ddb421f-6acb-49b4-bb17-8844964d830e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e0584b18-2fed-4a6f-a19b-a8998c2429c4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c9549d27-d049-4ef6-8483-e6a80570bb09 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:91e3b6d1-5c45-408a-970c-91d657ac5c8b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:49760942-3aa2-447a-9aad-9534824e7a41 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4796c9ce-bb42-4559-8220-f35705633117 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fbf43190-230a-407f-a71d-b3e41516a556 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:06be3c4d-b74c-4abb-bc59-d8b9a9c6df2e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0030008 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2002a21a-ff8d-4733-bdb8-b1bda280699d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c47df99b-87cf-4559-85c3-7a635d836f6c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0006644 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e2eb0d38-e637-499a-82d5-4c57d0cfa87a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:98b5fa5c-91bd-4a1e-ac43-c2ee425e94a5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:266e367c-1bc2-49b9-8356-e6f5a5be3f3d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:dd7c3949-0589-4fcd-982c-199a05e2273f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c11fe470-b449-48fa-a7d3-0585f38ba2f6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:26553913-108f-47f4-8c02-528d7b0e05fd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0007973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:325bf9f7-7077-499a-acb6-24f05beafca3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d82a6f51-7517-410e-bcfe-7e4a59481e2e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:27664405-fb1d-4b40-b6bd-9daae45f1465 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:dfdd0e92-37c4-4d67-a88f-1c97e84b4561 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5cb24aca-8044-485c-b065-4103ba07c146 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9007ac65-5d69-473c-abd1-d03ad60003d7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7f74faab-27fc-40ba-a05e-63473046c19f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:08443efc-2bb6-447d-865d-b405772e026d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a37f6291-f594-40f1-a7d1-b769ea6792ca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:eb664fdb-ca12-43a3-ae70-292ad0ff5699 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:07a13006-3bac-4b53-a6fe-0a8bfb89bdea phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5e43010b-01c0-404e-943c-7522c8debf6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3571f998-efe8-4ce6-9f80-5c90ede0287b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9a68e1d4-49df-4a59-bda5-1d5114a6d919 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9e313d84-d718-4201-8bc0-9c488568cfb8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:02c193e1-70f3-4245-ac24-4d64bba280dd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3c8e8bb3-b5cf-4ee3-af3c-17138ed228d5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:47b4069e-efaf-43f2-8007-e1dcea80d5d5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2b1bdd3b-9bac-4f04-86d7-68be2e6347b3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3f4c2af9-38ce-46b4-ae6f-d5e0cb504dda phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:07db047b-3d9b-4dae-b5f3-75d05a8b828c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9540bba9-b602-4385-bcea-9729e6934425 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b07520f4-9426-4f8d-b3df-f9fb24dccd63 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7fd0b268-076e-4e2a-890c-7630cecee36b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a92025fc-480d-483e-902e-d4b8c4190c81 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b7fe240e-1878-4c40-a988-af09560aef88 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bc562bfc-89c5-42ca-8dd8-b07a544402bd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bb4dacd4-ff84-49df-81bb-e22273ffbb4f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a5fc26a9-7e41-49ca-a0ae-a77c91c10ff7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f7ab8f52-de5e-4944-a652-d51513d6c879 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8ebb7f4e-4336-4eb5-95df-3082914be620 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e3770785-3040-45ad-a4a0-c4649724afa9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:62dc74be-45c6-4dfa-9220-a161b6c9488a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f6c1d6e3-ece2-4de9-97de-b67c7e1560af phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:ab39cacf-4ada-4250-9f8c-a697459cca98 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:46544f1c-f5b2-42a4-ae20-be97706acc9b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a9dced71-5be2-4d55-a3ff-bf70cc041c9c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5d8eacc7-cc42-4015-a31b-fe0055dfae87 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7724edaa-bb78-4d55-aea5-41faceac7a3d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5afe6aaf-bd0a-46e8-90d6-5102a5609f02 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e7689f69-aa76-48e1-b7c1-bf3fca555546 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2a8db0fe-1b4c-4451-b7b7-33ea6b6b09b0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d228cc26-b52d-4338-ae13-d1996cdc4b4f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e42ab422-e32d-4a8e-85c3-322f0e5fe117 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:879fc01f-bb9b-4eb9-b5ce-f2b9cb99474c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f1f858d0-6ae5-4de6-8e22-2de5f5bfd4cf phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fae79023-43e4-4c61-a939-07a7a7dd2aef phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:45e83fbc-45a7-4659-9733-a849eaba9f88 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b531def1-7354-40a4-ba79-872b364062bc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7e438c57-8933-4c07-ada1-113b9f4a2696 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0031218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a27ad577-74f5-49d8-aee1-43b65e226f05 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:030223f7-0edf-4c77-9db2-7b4be035a554 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0011951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:76f6f638-2402-4bea-839e-a7a5a5bd62c3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6012d50e-e5db-4d6c-b4bc-39033de9ef79 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c7ce1788-88f9-4cb4-a9f0-4d2c3b097834 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6b5d805c-2bb1-488d-b4f6-2aa7770cec63 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:53a5af97-5591-4206-873c-b9e1e0ef8316 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:800f7006-0b3c-4b51-aa5f-4d293fe60fca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c3762c5f-b9e2-49fa-ad9f-e4b5812f0a6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:319cb99a-4509-4783-8328-1f0c23a70bea phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:698e002e-cca9-476d-864b-7bb590e02d41 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2b29d2ed-45f7-4be3-ad3b-8d4af30626f1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:02da60e0-4091-450e-87a5-8def03b4ec3e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:87170947-de52-4ce2-8913-99c23694c61d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:19ae7f2d-373c-4bcb-8953-b7f467d7562d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f9e2af19-719a-4383-b15e-8e6dc392926f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a43db564-d9b9-47e9-a161-8d9891cd6f06 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0e0e12d4-ee2e-47d9-abff-d69e3b000ecb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:33b3e48f-d7de-41c0-9126-823f478916ae phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:35e5c333-abf0-487e-8515-c2c1d2ed10a9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a870fff9-ed25-47ce-a753-eac010b3254b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6d773750-8a35-432c-8125-8b56ca3c522f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:722b6236-3394-4fa3-a1bc-c8c356b54150 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:53798801-2144-48e2-be4c-f8812e5af4be phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2c4d329a-7751-4fd4-ad1a-cf5c0bb9dda4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:009ab396-dd37-434e-8610-250e18cb540a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b0a3b264-9e28-4d37-a211-9c8465640d8f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:41b3f4fd-5101-4fa3-89be-434510beb38a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:96efee4e-ff31-4e5a-89aa-54f82611a703 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5880f99b-5111-44d3-98fe-1552a4166b34 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c8948681-3793-40a0-a2b1-d27ec16caa04 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9535e81e-87cc-444f-9ace-4b6504901f38 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:08eeecfc-b7ce-41cc-ae7c-b2241a4bb239 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:35b432a2-74f3-4da1-91ff-55f2962912e1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b7af0f33-229b-4c74-be1a-710f7cfeea72 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0004712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9b9c535a-e620-45b0-b5fe-71e1945c2387 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a52add54-b7d1-4f91-b257-c4303f86892c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e1c0e970-d1bd-4cff-a460-800ab01bd6d3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b527d5ed-e345-4674-8b44-8de2017877a4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bcb0e817-311d-40e0-8adf-3e857b45272f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e46f18db-333c-43aa-a94f-9b7870db6e2b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:07495238-e82a-49c5-b2ea-1f92be6912a2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:72a4e895-a6c2-4efa-a5a2-71b5b9f428b5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c8d9a3ec-e95f-4298-80d7-456862b834a7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2da2619e-c8c8-429e-b970-10302c300200 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:72c7e69b-258f-4a90-ad0f-b05dd7730a58 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:52d79330-dc8a-4bfc-bd82-dbc97eefd7db phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b07ada8f-d2b3-4cb2-acf7-46e3afa67b29 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d0abd752-9083-4164-92ad-87509b47cc05 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b82f413e-f3fe-4aec-9278-daa7457b0160 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4c397add-61d3-46ac-8320-9b0baf49e45f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ea8d7de2-215f-47b3-a96a-dc52a9843098 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:84a4b986-ffa0-4fd9-b93f-0c4470bae7c1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a3efeb6c-59fb-499d-9bb9-1caafc4003c0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2cfec66f-151f-4f4c-a5f9-6a97ed28c232 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:046ea439-bbe4-4b47-8d7a-4b9a36a69f19 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:be9f1861-0c24-49ae-b4ff-329e13bd4442 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:a6edb87b-6143-4628-a63d-ae5c4b97defd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:0413dacc-912e-4679-8e87-753095b01ff4 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:f8580838-e136-4832-86e9-355d51b9bd66 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:98ca985a-e071-42ca-bd02-52d6419f6f19 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:6081a19c-350d-4e33-9138-96149a037b33 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:47381e57-c93a-409f-9d22-c75b834d4204 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:dd88aba8-44f3-4fae-a496-6121ebf7f694 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:bab688b2-07ec-4b7e-8a2a-cec84887f8fc phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:e993b73f-51d9-419e-898d-cc73094da4a6 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:1647a542-5d82-40e0-a092-dcfb021411be phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:0ab7c52b-050a-4695-9e91-aa0b6c9208f4 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:fd4585ee-e500-45e0-95cc-daab608ddc4f phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:06a7257e-e099-4e68-8854-3aa0cec753d8 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:21631278-e4d3-488b-ab32-84dabe9b1dcc phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:791e3aae-50ed-413f-a10e-a93ded71d0db phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:34f62b23-85e9-46e3-993c-4a06855db74f phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ff249cdb-caab-4be4-b1d7-8809d2f77c20 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:949bf1bf-4acc-41cd-87bf-7f2f9855536b phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2c70e8ec-05f3-455f-9494-4d30e1e17d3d phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4ca69c1a-a8e0-4d68-bf29-6f0474f38f81 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5df85a3b-6426-4af1-b5a7-84d6727f545c phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:09f44557-02ab-46e8-84af-9f3424a23450 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:02d3a018-f17c-4a5a-907f-e560e94cc12e phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8862176c-b05a-483e-938e-c1fde8bac9ae phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c1135824-8af5-47f1-8093-ca8116118652 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4a9013a2-3385-45e9-aaf3-5808fb1de9eb phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:036a7d01-b2bc-452c-a45a-ade1fee675b0 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:adfde384-813c-48c3-b16c-fe038414ebb9 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:38d7379b-b27d-49aa-bb12-2a3d58b894d4 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4128abf2-82bf-433f-8b75-ac11a188271f phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:00ddf75b-435d-4f9d-a516-7a8f67753ee0 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5d23f9ea-a509-4acf-9618-fc18af7b7296 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2c91fbff-fe97-4966-9d6a-040cf1a4c96f phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:da77d18c-8666-45d1-9c63-43e1b2c13f57 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:53f292ee-7ed3-4d5d-ba2d-d98c1e44a621 phenopacket.store:SETD2.PMID_37372360_P10 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:9d402497-9599-49ae-9458-12059873d975 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:29681085 uuid:16b3c837-4414-418d-b7ad-13f5deb37b92 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:29681085 uuid:41a2bb66-9e7e-467f-8b1b-4217520ba076 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y6M infores:phenopacket-store PMID:29681085 uuid:a6c6f0f4-7fd9-46c3-a2e3-32951ec9f3a8 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:ccbcca9e-d65c-454d-b051-3357f02d591d phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:2d1070b0-40c1-46a1-80c3-bf8587fbc823 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:69ee0ce4-116b-4583-9bad-bf1058a59a77 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:59917c96-28dc-41bf-9292-a022f0e55373 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:9e6242e5-54fd-4488-968b-f73ba4229f61 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:b197c5f4-fed3-414a-b1e7-6a5371d81e2a phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:6fbc61ad-6a0c-43fc-b95f-636c029b5ebf phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:1d82d9bf-edc4-44a2-804a-c8ee7dc85bda phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:4957233c-48e9-421f-9f63-a35c4ce32b29 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:45c053a6-5a07-41a8-ad76-4cf6616e7fd1 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:e1b8ee81-6b3e-4ce8-8a2b-4b7fa5d0f545 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:03bfae26-9b94-4aa7-afb4-a363161c9951 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:576c09e4-f0c0-4e92-b784-62b387132f7a phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:82c2fc55-1761-450b-99dc-654ed6285573 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:d4458d0a-fe76-46c1-b237-de8458d01e06 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:5ffc6513-5fa8-4fa0-a903-1f36c0f5a2fa phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:8cd01576-cfa0-49dd-a9e4-72b1a5737003 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:9e0f6df8-da09-436f-a144-ae849cc19239 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:84c40e23-0e79-40a1-8666-5c4d2391c017 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:284b2bd3-4b63-4f64-85c8-561f6966eadd phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:ff051369-ffc3-4b3d-8cfe-719aaeba5367 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:f589fdd5-7019-4aa6-80cc-6efb10b9a691 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:a6647b6d-25f1-4340-b7e0-aa95e2f0ac4e phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:fd2331a8-cda3-4e2b-97e3-7ac0e5f4ca9a phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:601b06be-141e-48d0-8767-89ffccc3e959 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:13c0d27f-0965-4fbc-9f1a-e437041ef38b phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:e63bbf49-ba20-4788-8b41-a74e4bf1db2f phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:6f3654ba-4849-46f4-a7d9-42f31df83096 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:ec9456b7-48ff-4c22-aae7-fa5571a7d57c phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:79972870-d6df-4430-9bb0-83725f06989c phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:2e8ca917-9898-4ccd-aa87-bbb89a07a96d phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:40cee4b1-7e44-429f-9095-7182582c74eb phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29681085 uuid:6ca6d4b9-2c4e-4a4e-a99b-8d4230a21d64 phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29681085 uuid:41741bc8-1d50-420f-b99b-bb796bbde324 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:77c53218-a1e8-4305-bc6b-8bf1c810e7c7 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:a2be94af-ca78-49a6-afd0-b7984ddad813 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:cb4558ce-3266-46bc-84c8-d796ae5cfeae phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:3c920560-a24b-4a34-ae1e-d2a8ba087aa3 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:18e0cfa8-8ed2-499a-b335-eeec7187c887 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:e0f699f8-45e7-4db3-8b16-23168c2de44f phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8b370f08-a9bb-4505-91b5-776c68f561c3 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:aa209ccd-51ca-4e8c-b0ca-3e46f4343a6a phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b10ee9ad-1dc5-4108-a80e-be0bdd5de4bd phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:37261410-78b5-4ff9-a82f-6a169ba1dbc9 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:89aa1113-947f-4195-b4c5-9840d554995e phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7cf8a884-971e-4047-a34b-154fa4a6e64b phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:26a01241-902a-4196-926c-c74dc9ca1588 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4ac733f2-74ac-4614-817c-c2b1a21bf73c phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:217eb3db-6a55-4306-b6e6-f2631d78c4d8 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:aa170d7a-d97a-446d-8989-ee98a96edcc9 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ca034893-5ae6-4788-872a-ae5e79f022ee phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c256e5b1-a0f7-4e0a-8628-b5265f967d61 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ee55f667-484c-4862-a1a1-9ef371de7cb3 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:94ce7316-ab15-4a66-94ea-fa8c213a0f92 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7c7a57e9-d5ac-4aad-a08f-3ac58f742990 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b39e0b95-41f1-418c-979f-854dc4996521 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7959195e-dfaf-45f4-a5f7-f806040fce69 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5cf1e51b-11ac-407a-92e4-e9b3b51a4ed3 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c9879b2c-9034-4575-81dd-c0a837e8d136 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6ddb872f-b627-4654-8068-0ac611d556df phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7dd7d2f0-5339-4e89-a7af-0b469425c348 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d9cadd04-1269-4e3b-8101-d92a664afe72 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3d0fa57b-94f3-4e89-84ef-3c9c99470ba5 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a9efac63-d68c-474f-8ee9-8b7526dacbdd phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4eff424a-f672-42ff-b357-2e954139d448 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0276c4e8-8c02-430d-9514-1edfcc8fb858 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:36ead6ad-80ed-4b1b-9602-f97291f29dd1 phenopacket.store:SETD2.PMID_37372360_P15 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:a9bd48bb-8aeb-4a58-beb2-79cc00cd9e8a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9bbc88c3-0fc4-471e-94e5-ee98e378390c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9dc45775-32c4-440f-a601-a20f8d53a275 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:090af1e1-ce86-4c93-9231-7de457dae061 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f5920ae5-5267-4752-a8f8-5a2512240be9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:516c77aa-45b4-4abb-9ef1-541ebe414782 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0b3fda3a-c8b9-4641-bdb7-94e2fdf1688c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:76fabef1-b55e-453a-9f2d-dca90ebf95e1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:46b84a49-47ad-4348-be03-ef3ea03f43ce phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:eeed6ef6-6f28-4e5b-a727-f308955feef0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:cecc5ccf-8e26-4e89-868b-9034f2fea10d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fd2c0f6c-47c1-4036-aec6-80ae818bad91 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:bcda2a39-890d-4162-9ef7-0a1637572d62 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:770a5846-ab74-4744-a318-b7e7c2ba11e2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6e82e094-26fa-46fe-8a07-811bf1456bdb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c887ba49-ac3e-4461-ba88-8d765d2aa85a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:762c480b-f66d-4372-b7c2-d9a9b6d35f79 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d34d0569-904f-49de-b1b7-4e73cb954f21 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:353ea26e-d293-4b20-8977-a2438a79745a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:33fd5dd4-6786-4b78-9889-c9cf9ebe73c6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:558faaf4-0d0c-4099-8aa8-e889703235d8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:36e766c0-82ac-41b7-b606-d65538ba8e03 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e76e6459-64f1-4b2b-9a53-539b3954e3a1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e1e9ebed-a12d-4077-82b3-b5cf414a60ef phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:026d0d88-44f6-481f-9fed-347592258737 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d38b73ed-43a1-4af2-9bdb-4db8f1bb12a4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:772c3a71-1a6b-404d-9776-c2394fb03f0a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e9e2f62b-156c-480c-b283-e471026318e6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a83e15b8-c51c-4468-b309-d7b410e747f2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fa8865b9-625d-4adc-b27b-780dc96159c7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ecdf7461-c6fa-4cdd-b1b3-c82f75414902 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:092760c2-27a5-4c08-b128-3f06f6767acb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9260c2cf-53f3-4dc6-862a-49ca965a7397 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:88951a42-0d78-4d72-ae67-3720f33e34ea phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:25774468-2005-43cd-8675-e51a065b6725 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:775ff7b4-a26b-4882-858e-1bacb3dfe5bd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a3cef51d-b18c-4aea-8ea1-a6a56c4d5d25 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5a4b948f-0b61-4cf1-871f-ea416e965fc9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0100600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:12414240-bdfe-416f-86df-8c8ce1859b3b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:17b98736-af6a-4dd6-9d84-47a40fdd157c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:24f5fe54-637b-46fd-a0e1-e8b412eefe64 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:254b936d-f9e9-47b9-9833-c9b1438026c7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:dbba27aa-058b-48f4-ad77-f39d76445512 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0b5461e7-772a-4c3e-9cdc-d3ff350fc1a1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5e913599-177e-4e1d-9991-fb5678441cb6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:194e1ddc-0878-4e58-ba87-66c2e49269f7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4efe1091-6587-4643-adfe-7f289612f820 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:952ac76d-cc29-4ac1-90ce-ea47a459ae58 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a48f95c5-bd61-4305-9793-f694470b6797 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b61382d1-2a17-4040-bbde-8bccddb5fbde phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f17de77e-3098-4cfd-88f4-29134b51a6fe phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0f2bbde0-4838-455c-a8f1-0d2cd09b377c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4007b0a9-a1ff-4d28-a120-352a88a7159d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e6038cf2-2b72-4b28-b635-f2c137e2c046 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:97913b63-f9fc-4ef1-99db-ffc9479b43c8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:de638c82-e59e-473b-8697-350ce5a2dded phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f3c12b8a-6144-4299-8e66-4faa8351f81c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8d9ccab7-de8c-4bde-a5dd-02ecf055a0ab phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:0928aecd-f181-4d94-9473-9063a272e86d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:c1948f30-8d11-41f1-970b-93beffb4438f phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:5d4c1a7d-73b2-44a9-9434-f907957aee32 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:b107ee04-91cb-4f10-bc23-5627164fe259 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:b953d97a-523d-4eaa-989e-a1853d96de4d phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:fd60ad6b-4aae-4f02-90ab-d32580065a40 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31643139 uuid:a16c80ee-77de-43b2-b53f-28163918cd0d phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:9a0c46d9-d855-4baa-b6b1-f3c1098317a7 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:35862f53-4fe6-4c59-9275-7355933c6ca0 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:05bb707a-3937-4b43-b00b-d8d371eb2b10 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:6212fe75-0ada-482e-9a67-e3bd5a29fcba phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:dc3d70f0-58f7-4fa6-bca7-e51a83439c7f phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:aa715111-0b89-41c9-8974-daceccc7b215 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:d18dddb7-21e3-417c-8d7d-3fe9d7526a0f phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:103cced7-1f68-4e92-977d-547dab5f5acb phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:cf4ae510-9d69-4b8d-b438-e5e45f0f258f phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:6d7f1968-19a2-448b-9ebe-802cb3f9a19a phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:7ebe9238-424e-4d30-bceb-2d45827c9f5a phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:bae5f899-0f4e-443f-8f6e-25747e73fe64 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:d589e304-9036-4cc8-8be8-773a31a2a4d7 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:f9a3da03-e353-4679-a633-04841f8151f3 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:b103e16a-51a4-4321-88e4-5dccf5eb1034 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:bd86015f-bb45-4dd2-b301-b5870f5bd17c phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:6b57d1ec-0ea3-4848-b644-ca590cbd3372 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:70d5ebdd-1b58-40f9-b946-3af8c12c1bff phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:cdc87d73-7adc-45a1-b6b1-55d12e3f05a8 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:32951d38-36f5-4b88-9242-8f7722e864bb phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:37945541-72ac-4cbf-ac6b-ec9523ebd00c phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:d8946357-628f-46e8-92bd-57413c2881e2 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:b09b4a59-09ce-43f0-9df6-b32768ca51f6 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:08350efc-b879-48b2-a95d-9509153c09d2 phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31643139 uuid:043427d7-6d99-45b6-9ced-20d768767d9c phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:2186423f-842c-4094-bdf5-6ea22470159f phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31643139 uuid:7cbafc17-f816-432f-9efa-3f2b9c14c510 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:51010d2b-d439-4f47-b2ec-6501e586d239 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a3cbd31a-af7c-4718-bb97-23da479ae361 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3ba2f340-51d9-4d51-842f-ff6f107da043 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d89a55b1-f1ac-41fd-b7c3-72d4d46a02e5 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0c8b5d27-c60f-48c4-bca4-c3701257b048 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:616bef25-ca09-4de0-9e7a-f5237ab1ebff phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bfcb82d7-3741-4310-b34e-68753fe2e32b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9f116e59-d5ad-44cc-b3d5-7fa0088621e0 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c74ee767-7f24-4abc-916d-f9f23ff431b5 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a034d0b4-df9d-42f4-934d-44fac4808ed9 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c2c456cd-09b1-44b9-92de-588833ed367f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c013b902-4431-4918-a5b0-37bcd044b36a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:aa985ef5-cd74-44f1-bdc1-7b33b1219a51 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:243eeca7-d3b3-43c0-962f-46fb19f6e837 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8d75aeba-b251-4b88-9171-b3da73a90c1a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4f46f685-fbfd-4c58-8d3f-ce5cbecc53db phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0873495c-1201-4fa6-b525-d3e228ba1a0c phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:97725f78-eb3f-4259-b0df-3766823abbee phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:39047bcb-a470-4bf4-b78a-23c0700bfc33 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7fe7ae99-b1a3-43f2-85bf-465f96bf147a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bff8ebad-660a-4cc6-9b60-f0d11e030ceb phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:38dc4076-0b6d-4bfb-b8bc-2d6f45444187 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:74b42bfa-37d2-40e5-b506-e2f2d87331d7 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:44b9b664-a012-4937-b020-04e96235409d phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:69bb2e59-df9c-4652-a5bb-ba675ecb83cd phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ba2f6e23-a8f4-4aad-bd18-f6c17e78bafd phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c81b0b22-2d9b-49cc-93bb-0626dbf7319b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6f49cd62-5e70-4b1d-a4f5-b6852c378a35 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3a6850af-6970-49fd-a992-8e2b352c5108 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bca03151-81ab-4dd3-9841-f4f03ab739e5 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:81f33251-fec3-414c-895c-523f6d026322 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:76e11222-6bda-423d-ad59-f9dcdd0bf8ee phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0d53b104-ec78-4ec7-8608-cc00404f78e5 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c7468439-6b60-4197-9843-27403a1b8bd9 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:13afbd1a-a266-4c9e-8bd4-7c93f48ea1d4 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c40371f0-08f8-48a4-98ed-4c725ecfdb71 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8b62c301-acc0-4522-85bd-ddeaf0694389 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:63c82d02-51a1-4552-a438-34fddb62952e phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:536d581b-5b02-4724-aaff-4c63fba61900 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3ed6d87a-689f-455d-acdf-17724ecc46a5 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b55e54ac-246e-4476-99cd-5ee4e8b63caa phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_disease OMIM:620157 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:32710489 uuid:d35b766c-c409-4e26-a96c-32f4b1c4773a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:27afe1d0-3be5-4539-80c3-a136c71f3266 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:dec7c397-26cf-4aa7-b94b-4292f7cc5d76 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:a0bb66bb-52b3-4d3b-b2a6-97fb4d6f0207 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:a145fdaa-64ae-4440-8def-26942a897abf phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:257b8a94-ed1a-491c-97d5-d62511857a2d phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:5221ced0-c8fd-450a-8cf9-316d4897443d phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:51bdd2a8-8c04-48e0-935f-19a1a205de40 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:2ce90a0e-ce3e-4699-b3e6-56fbd6370422 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:70c2a6e7-825f-441d-8444-529c51e4f084 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:032127d7-e832-4ddb-853e-e9db3e8201c1 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:810da7ad-a288-4e59-97b8-61acdec5de42 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:276fde28-9299-4c6b-897c-4786461077a9 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d19899d2-73ca-445f-985a-88961dce64c0 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6efaa4bc-87ee-4f89-ba73-0cb79a72697a phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4ef54604-1261-449d-87d5-6a54c88d3898 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4c6a0a0f-f63d-4a90-aa12-2f2ed504ce08 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1ceb8edc-c3eb-475f-8c7e-7699fb537fd4 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:461103d1-e3d7-44b2-864c-a3b17e25cea2 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1a0f5a76-b14c-49e8-8822-b76c849e2373 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8bc447eb-ded4-49ca-9d42-87b357d87a46 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a76f2e28-d0a4-4cae-a36a-8b465a94a4ee phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:04f7c326-61ed-417e-bc4c-33f62f1f7861 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fffc0292-e2db-48f1-baf6-e9ee824dc4fa phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3d522f52-7ebd-40e8-8619-5d6fa8131697 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:35f0e217-63e9-4d89-9347-34d9db37f89c phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1623b1cc-9a96-4883-8c72-8eaf03dd419f phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:410c787b-f81e-44a5-bf33-a3dc25d3063c phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5e49b05b-2804-4469-bcd5-764cb100cbaa phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:10e96307-a085-4702-aad1-6366e98a3a89 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7414fb59-cb87-4ab8-bbb8-f0af38c697a8 phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:b5e017e0-72be-4508-ae7f-4d30ebd5601f phenopacket.store:SETD2.PMID_37372360_P13 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:219292f5-abc5-4b19-8c7b-a20b88c747ad phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y9M infores:phenopacket-store PMID:24852293 uuid:4246a8da-baa9-4fa6-b2c3-6d1acd6c03b2 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:c6da768f-33c6-427d-8928-e9630326e058 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:9b5357ec-f304-4c65-832c-b20c7440ac82 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:b407df16-5052-41e8-a823-c7b71dfb76de phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:d7d770eb-2152-4111-89eb-ce96886b455b phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:7792f20a-5806-4521-9672-6a8c44fcfc19 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:c2168dd3-f113-47d7-a1ed-372f27bc1f18 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:14cf378a-a670-4cfd-a784-00065fd54c34 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:b586fda8-dd58-4646-b45c-afef9dff009d phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:1417b496-3e3d-4d77-a463-6b6c912fcefa phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:8dd20756-1d96-49d1-8c01-3749fb917fc2 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:ba246db0-d7e1-470f-b7ab-c1eeb91001b5 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:074edcc5-51fc-4625-b1f3-e5babcb1a56f phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:8eacf323-eb5c-4bbe-8d91-97a560ec6094 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:53c7f37a-6689-4e28-846d-1548570ebfdb phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:2e6ee7c3-6bc6-40b2-84da-89899a279d27 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:27727064-e07a-4144-970c-3432f52f8f11 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:f7241be2-ef30-4355-877b-92e479848709 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:8e0a2e4b-34e5-405c-91de-f7604ec0869c phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:66837954-3dc6-4f14-9c85-ebf2a2bb0122 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:ff21d586-a211-4563-80db-beab73d4c75c phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:47888b68-55af-4fc0-b6ed-bebbb1bebfb0 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:d9fb9c6c-100c-4b90-8025-d61398e9d9ab phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:4fa75f52-aee2-4bbe-b9fa-bac2a69598a8 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:d56ee22c-ada1-4f48-ab01-299e0d95dce1 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:c18eebf7-213c-42f5-ab2f-47e07c82be47 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:c71d0924-95e1-44a1-b1e6-55d9f288b937 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:4e548457-5a92-42fb-afcf-f0698b8df2b5 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:ef4d5561-aded-4690-b559-a92999355647 phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:24852293 uuid:349b5741-6572-46ad-9076-f3e6030cfe9e phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24852293 uuid:d4a70c43-ee4c-4acd-85ee-91d4859f1fd8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f58c12dd-2e98-4948-ba83-faf6b6488c34 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:19b4bdcd-a1c3-4cb8-b5cd-4e1ea37ab75a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:eedfab12-6ca5-48d9-85aa-e6da25ec0bf0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:eed099cb-6009-48b5-ae4c-3fdef4f72987 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e1dafbae-afe6-4563-b7c4-95bda95f865a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:62952285-1513-4468-9ff3-65df0cca0ff9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ce34d117-ed03-4491-bcab-8031fc6306f2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d6989693-c482-4ba4-a4f5-2052f52e74d7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a3d11bdc-42ae-47da-ac2c-5bfd6a1676be phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:428b111a-38ba-4cc7-b1cf-d0c392c03104 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0f8a0662-0906-4557-801c-97b7315950f6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8ede87fe-b132-4a56-bf35-9194c13ab6b6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:729d1ced-11ed-4fa5-81d7-a1fe9e899c6d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:93a64151-26c4-4ba1-ac57-758360a061cb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:01cd7c53-ebbf-401e-b048-c4cd511a0edd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6bb2ede8-94c1-494a-9f56-6701bfb878c0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3b562289-c393-43d4-bc7d-32d06848d787 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3ca6ba88-e4d9-47fc-857b-6ba1aff1dada phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0031218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:74e4a098-134e-46b8-83e6-a643f77760b3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7872411a-06c4-4486-a64d-3c930f47a032 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:66763c0f-0a38-4da3-b824-440f2594c795 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:05b09df2-3f1e-4c56-af3e-60d50dd6cece phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002871 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9302d788-1fe6-4e6f-adc0-2756583ebcd6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0009fff2-d0f5-4bf5-983a-c439b53f7816 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e1853415-9674-47f7-acd4-089daaa0d4d5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e2c08d65-b89c-450c-91da-7f3f6bbf59bd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:79d534bf-beba-4025-8567-0888262ccf42 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ff6b4b4f-fe31-4bad-b986-20f0bb19cff3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:acd2150a-42fc-4a57-83b2-e9637aff236b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0ae4af72-5669-4ef3-8f23-fd37b987824f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4bb23bf8-f180-486b-9eb1-41688f5cffeb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5fc52db0-82b3-4460-a92a-263a48a742cd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0e124875-019c-4f06-9832-7266641c20ca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0bd3f3ad-cb95-47fb-ae7b-df7b512b1c14 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9684257c-5d5b-4a70-a8e3-474d6f185ab5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7a765a8f-7f29-497e-b6f3-33eb9f639220 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e10955fc-1a94-4d26-a2f0-3278242ed47b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a75c178a-46f3-4356-bdab-523762ade294 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:47dfeba5-ce4d-4dcf-b813-04d1442a1d96 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5bd3f0ff-db82-4fc6-b333-730eb770da80 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a6b279bf-30b9-480d-9b31-5e424a4f0b7c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a9b6df39-b891-413a-a271-bc0894f4a818 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:81415580-f77d-42b1-8dde-bd2b2bba8127 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:703bf50e-e103-4c9f-ad0b-471a4b2fcee8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a06c811a-0e41-41a2-bab7-1dfc2e4b846c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5e5d0e2e-747d-41df-a946-42d097054403 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:882f9d4b-23c3-4745-8ef3-50510b055f10 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:326e75ec-f89d-48cb-a6ab-19f3fcc65257 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:33c42a68-a3c8-4798-9f9d-64f5ba5ad095 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a8f88113-80a3-4aac-a2c5-2edb173f7b6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d76af0a8-23ef-4ae4-a15c-a87d9876117d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a247286e-4bea-4132-ace1-921955458840 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8d504ab2-8318-49b9-9329-8114c6fd23d5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:64f27d98-01ac-443d-8783-ad01965735d6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:30f674b4-b67e-4afd-b4e9-de51b4348ee5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7d0b913e-a81c-448b-b5d7-0a6da25faabd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c9937007-fcf1-44e7-9491-cef8cb01d012 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e2b998ce-78e9-45a1-88cc-5c1de314eee4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8104f5ab-e8da-42e9-aab7-5173bce2b0b0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:958795ed-ff40-4c06-9d7f-45151e654d9d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:25343522-22ea-4a2e-a564-84c7e05f410e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d4f78c5a-2a09-4aad-9059-cf014d1d2dce phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c3d52e3a-7f40-4d8b-b850-ebc9e28ed945 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:56a59624-8384-451e-8902-9ef08bb90d39 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:100b8a74-e244-4691-9dd8-cc17a819ac50 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f28c8239-1dcc-4d5d-952c-7c3d193c9333 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:13da45a5-c143-4a9d-94cc-eea6300f75c7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:de81f1b4-1338-4f34-9ba8-6c7364bf1c3c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:cf0f6a6c-b205-48c1-837f-d50c8aa64d6a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:136887d8-a902-47c7-b5a4-6436552d32c7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:d2269f75-1d7f-418e-9b44-dba50555ff8a phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:f50f1d66-f2ac-423e-8bc5-7231f91b5967 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:f4f0d152-9ce2-4c21-9dc9-73ff8327908b phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:f96a4832-12fa-46d6-b01e-0851268bd4b6 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:54a8e306-9f28-4498-9b7c-5f32ec0258c5 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:0e21f8fa-2ed3-4699-bd23-687f01cf322b phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:bb905a41-477f-47a7-8132-07418457e547 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:2fd3c480-6a43-4022-bb80-8f03170f8075 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:d8fdab01-ac7d-4342-8bcf-b6d9c0d96ab6 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27479843 uuid:0f30af46-edf5-42d4-a019-4d81a8ffb2c9 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:81d1bada-36a0-47ca-bff8-8c53b4fa682d phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:8ef0cc51-b414-42a8-b5e0-72051d1a892f phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:9499e387-122c-468b-a719-242e5d80fa12 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:b2ff4632-8452-4ee5-a2ce-ab80c9455914 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:cc80a902-26bb-4487-8400-7912cdf9f1ac phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:bda30a67-1fb8-4d03-983b-42486ab74626 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:526e25e7-3654-47a1-9c69-67ccb419581b phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:df8df894-3b3b-495c-8567-136de9b70b86 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:719708ab-9fbe-4bba-aa35-9c7612b945aa phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:700d3fbe-97e3-4c0c-9c3a-12a1bb27212d phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:72c86dda-9b6b-4eae-bb17-28e72d5ad17f phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:7166a144-c903-4392-93f2-7b41f482a4a1 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:29310b51-4df1-4acb-8017-348eca8cb72b phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27479843 uuid:c880c2b1-5514-41dc-afc9-4254416d95ad phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27479843 uuid:b142afd3-ee84-4fcd-85da-52a3e2d8da34 phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27479843 uuid:738a2105-7777-42b0-b7af-8063d726e973 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33248444 uuid:709d556d-cdc7-4047-b696-6aeb00e0bd57 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33248444 uuid:c36d3c5e-6e19-4a83-a53b-391d541725bd phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33248444 uuid:535c4f8d-969f-4e87-818a-f164af7089b6 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33248444 uuid:23d7807d-2a55-4f9e-8450-1b6581041c9a phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:b9d49ab1-7848-446e-99b8-685d5d38b983 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:79e3df7b-56b0-4a12-8e5b-47f52a15bfd4 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:22121c5a-6e6e-4f5c-bec6-70e9aa748c5c phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:d266bd38-e4e6-4537-94cd-a684709d5805 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:d7675c34-87df-4946-94a5-b8663d52956f phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:f1039ed2-c338-4e4b-9f07-45066efb1650 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:73aa6f1b-4ea4-487a-9e7d-9661f7526d44 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:a163c438-58e1-4855-9b8a-aae2f6a96d3e phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:e1c661a4-d048-4c9e-97d2-0363bdf1a795 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:fccc4ae4-b15d-4f56-8e52-3263adcebfbc phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:1840fa4e-cec6-4eb0-aecd-10cf498de795 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:1da16fd3-c999-4741-8bc0-eba944be467a phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:b0417fec-a300-4e5e-99ea-ff3d65164843 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:709179fb-e3eb-44fd-96ef-0df11019d2d9 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:d26c7746-cabb-481a-a1ab-9b153b959c1c phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:73af5c3c-30c6-40df-9069-777708e08904 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:d0c314f1-c841-4cd0-8e80-474a8b4ce322 phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0000845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:23d57ee5-8756-438a-96bd-852d01d933cb phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_phenotype HP:0030269 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33248444 uuid:58a4b04c-ccf7-4b58-b7e1-1b13999bf59b phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:33248444 uuid:3a09174e-efe3-4457-85d4-51888f68144f phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33248444 uuid:fb7582f1-6143-4aba-bcf6-aa5fe922ee7c phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:33766796 uuid:512ab5c6-9d46-44cd-b014-a5e1da872565 phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:425c8c5a-20ff-4122-9840-9c07e0bd6918 phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33766796 uuid:9a455499-8664-40bf-9fe0-8574a09fece5 phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:e652e92f-f17d-4a2a-851e-8550e51d58fb phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:6919c8b3-3444-428b-9640-76850654f92e phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33766796 uuid:703d2aa7-dae3-4862-8f12-719a2275724f phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33766796 uuid:f8b44bb9-6d22-4d88-a295-e04985ad171e phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33766796 uuid:6ab7bcaf-f2da-44d0-b860-a2b35e1592de phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:0ffa4fe5-ae70-45c5-a35f-21ceda195baa phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26084711 uuid:d9c85cf4-6d8d-4860-b554-6da1bd617a78 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:26084711 uuid:3e766627-c76d-46b3-8fb7-e932826dbad7 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:f6502be5-ec3c-4c4b-9f17-16b45cc0f267 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:abecce13-ac0c-466f-9b10-e47b75fb83fa phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:fd81c116-460a-4e94-b4c8-a9f39a9f8caa phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:881b797d-20bf-4da3-92f7-ef8d5e934761 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:6706d463-1888-45bb-91f6-bdaf934d2a06 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:4f16c9ff-8567-4b6a-8a6b-c8d226c5f421 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:e4212d24-d2d1-446c-b58c-483ec8194c95 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:5c571fd4-022b-4f30-901f-b6db72093987 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:de46248e-b939-4392-9853-bf638168e41f phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26084711 uuid:69259db2-42f4-4b56-be33-12378a169e6a phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26084711 uuid:54d36936-82ae-4c39-a0da-4ad349aedd14 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26084711 uuid:b179c364-ddcd-40b5-ac26-0612d2cc2e79 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26084711 uuid:5e45b914-edc4-48e7-8da3-1301a8f72447 phenopacket.store:SETD2.PMID_26084711_proband biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26084711 uuid:50f6bd4e-7407-4c80-9502-a00eacf5166e phenopacket.store:SETD2.PMID_26084711_proband biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26084711 uuid:8c172876-0990-4892-b5ae-33e9e1376076 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:dc872712-91da-43e0-8fcd-d4272f754e18 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:f51888bc-61ed-45ad-886b-5f199e434047 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:07c97732-f53c-4fdc-9214-7ed40dd193d0 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:3af5920f-1e09-4317-abde-cda798a3c719 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:d17db7fd-67f0-4b08-81e2-64ab684e7a48 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:b90dc455-18af-487b-89a2-c6590205fb55 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:9b6067a5-4a0c-473e-b64d-97be142b91c4 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24852293 uuid:5fdda0a2-ae05-4fdb-a452-838efe58c4bf phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:8d0c74b4-2c11-481d-b3a3-b5250811bab2 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:50f26dff-e4e8-49d9-8970-34af7506af0e phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:ea06bb9c-e379-4f1e-bea8-4162698b90d2 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:42145fad-4120-4c6c-94f5-91fe89f85e7f phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:e429c709-ec61-4f34-82e4-f2ddacf0435e phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:9dda1c4d-63c1-47d3-bc5e-f0eaac7c9298 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:33c1ae81-0555-4340-a1a6-3c03fd15b523 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:85d83d0a-538a-403d-a89f-43ef73677c1d phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:7e90d766-9b8d-42db-94eb-6a4eb280fe22 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:bdff6213-e4cf-482f-8042-0af7d62d4928 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:4837f535-5def-4a10-abdb-c3c39d04b3a4 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:bc5df635-ee1c-43c6-8694-1ca6f00c2a40 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:22146f60-4f2f-430a-a948-7514e67f591e phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:e35a88df-c968-4750-a3bb-3ec9702f042f phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:e4ad417d-67e3-4fc2-8f42-ec9d488068ce phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:bf76efd9-6bf8-4c90-8ff8-22cbe0fabfc1 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:0dd26064-ee6f-41a9-bfa3-c9d5d87aab56 phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:04cfe705-8556-46f4-9d13-c166f443749f phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24852293 uuid:b783ecb3-ccf0-4218-8801-0e839f575eeb phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24852293 uuid:1a0baadc-a471-44dd-87d6-29e4dce5184a phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24852293 uuid:5acdb805-7456-4fb1-87cb-56d31a1fbe12 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:9bd29dd4-544a-410c-aa40-2215678e8288 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:29681085 uuid:040e9a49-b558-4c7b-9d65-a58911b12186 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:1dae7275-16fb-48c5-a10b-83b5ea39364e phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:f6dbcdaa-d582-41e7-8bb3-7004d7473ab5 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:a213419d-4432-4a1f-ab69-a9b6cdc30782 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:d854ce3f-a8eb-4504-b24d-d8057dbf731d phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:c90c71b0-36b7-4231-8ee2-abf0566e0c14 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:fb92f867-bf00-4bb4-9755-c5735325c05a phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:7ffe005e-4e3a-4c7e-8e94-24ec422b1f62 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:d23bd099-13dc-472e-9e3e-7e14965ea84c phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0011822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:1da7bd7f-00c8-493d-866b-1670d44d5e61 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:43434dea-d15d-4330-a411-a5d396bc6d1b phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:0ebdca13-bda2-43de-ae10-cd2f88424d84 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:1ccfc67e-3a24-4768-b53e-111cc2b23e7c phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:e310e356-093b-46ae-b01a-f7be4c02ae60 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:96ef2ba7-b34e-48f5-8134-c597ee3aee9c phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29681085 uuid:1c60583f-8425-47d6-a4aa-99114ead5929 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:0a73d012-5105-4b59-b92d-bff5259b2c72 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:d82a6a1c-0f95-41c9-9f4e-78bd3afa4368 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:20a6c3c7-ca43-484f-ba5e-bc258eab2901 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:ec02c07b-dfd5-403e-9f86-6847d1baaf5d phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:968b48c6-dbec-4bbc-bb43-e2c58ef542fd phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:606eb370-f8d2-4101-860a-58a931250e69 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:c14c209b-83df-44eb-a880-37b32d0352a2 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:90debe04-f528-4eab-ab9b-c53dea4b5f58 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:95fb77e9-efdb-4891-b369-9cc441c9cf50 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:be8b80fc-fdff-46fb-8d80-3909e0b40dc7 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:82fccb7d-88a6-42af-8e6d-2f6f97d2238a phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:db9307d6-c1ac-458f-9348-d309668a9b3b phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:b2e40d77-41b0-456f-999d-e18e04436be3 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:b4051786-3d4f-4f96-b425-23c7a94ccb13 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:2d317ec0-bf55-4efc-8539-387240455adc phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:2b1028eb-05aa-4dff-8882-4e178ffdc106 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29681085 uuid:58710bac-226d-47ce-88ba-d6bb25cf215b phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:29681085 uuid:52b1e13b-a780-41ed-9be7-aeec38d93b12 phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29681085 uuid:a76bf03e-f76f-415e-80b3-8cde354d12ac phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:396fb99a-a768-4b63-8708-5607e15b18fe phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:32710489 uuid:684b8fcd-af21-42aa-b392-7a60afb62653 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:16e7f4d8-4d57-4633-9b16-bb984cffbaf0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4d7b65d0-142c-46f1-a914-a87f464453f6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b3160801-f3a2-4ea5-a921-a15b34692725 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8ea90265-5eb3-43fa-a1b4-deecbfad1ce0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e05e1c17-a4ca-4b56-b1e9-2438e9b3ff0f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:26853a73-e9cb-498f-b361-0c9c71378e64 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0f14e59f-8d95-488c-b07a-004f9a0f3181 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:81760117-5eb2-4af1-9740-67a36e2abbaf phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3201600b-d4cb-411e-92f7-bd02148b2772 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d49f886b-ca88-4426-b619-445908cbf171 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3bcd70ee-a4b2-433b-88f7-350e94c8c4d2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4dbf4583-deae-4d25-bceb-0de82a3bd0df phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a46671fa-9f48-4bc7-8da1-feff58c06994 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7995310b-117b-4139-8b50-f21f8dc9c1cc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6fe29ecb-6e09-44d5-9d0c-a49b526e5035 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4425dda3-0c6f-448d-8b53-9e3620941b6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:239ce397-1154-48a0-9f58-0f4e7872b6f4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7d7a3e33-f295-4170-8c28-055821a9cbc9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e153ff58-22f7-4a07-ae9d-0f856905eef6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2904afc2-8219-4ac7-8fc0-f4a0cdf92e68 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:decf23b3-8c1c-4fdf-87f1-c70fb7d74c6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:347dfbaf-35f1-45a9-a682-b412f9e39374 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0100600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b8a374ba-f245-40f2-92eb-5d3e0ac7891a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e3a16fdf-d40b-4876-a700-cbc7649d27a6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fa042802-8bcd-4c4d-af5b-7936c0782f0e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a34cd373-fc62-49dc-8da7-a53f58a62709 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:326b2275-20fd-4c83-b014-c0eb5dceeeed phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:825ce320-b542-4106-a9ce-aa59de018b08 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:295b3f5b-5955-4214-b906-12439c889ab6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4042f6e9-4c21-4773-921f-9f0455ef7150 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0b652469-a07b-49f8-9410-4b44696a02cc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8a31fef4-5104-4814-a3e2-3dff9b606052 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8c501507-4014-47f0-a02e-e2f37ab31fbf phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:78438857-8d11-4ec7-90bd-c98942e003f5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:32a9d076-98e8-496c-bb2d-03ce5548ac67 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c7b62f10-2092-4b1e-a8cb-ac6e89bb1b56 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8bc97a7d-c33f-428c-88ed-9120f0882312 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d1fc8e0b-d92c-4599-8268-e894b01f7ad0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f0dfeca8-f802-4db9-8c83-720aee63e897 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3b2a2193-68f2-4efa-a343-6ac477beea28 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:eeb18d48-1350-4ddc-ab01-1a95b89c774b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:51960fd9-bbac-407a-864c-2225b3f5c02b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a7b8781d-3709-4a23-b81e-cf7c04e124c0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bccfb06e-5c91-4f36-a915-21fd77df186c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e41133ce-f1be-41ae-b03d-c367d79cb474 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:49f5e8ac-aa73-46cd-8357-47aff40f0e07 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ddadcbb4-1c93-46b5-b68f-53940f086aee phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:583b626f-1a6c-4de6-9771-5982bd975348 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c4bfaa28-9598-428a-b4bc-9ce64138426b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:797bcc6f-037f-4f98-a7ce-8630f51a311f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3eb2a56f-4f94-4c15-af03-9c9aa1a110aa phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4eaf14ed-a746-4c20-836c-90adf243fe36 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:dc7edacf-9519-4a1e-8b94-c8de56376b25 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c4e3be43-49a4-465a-a154-2da862dcebeb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4bb9d0c0-c83a-4843-b844-7fdaad783778 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9a45192c-b048-44e3-8d32-b9ee7feee2e5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0004712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bc6239ae-2f81-40ab-971c-4f84b99dd11a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7cfcc279-5e5e-4f4c-be55-6c2f838dad94 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:788f84bc-8e35-4182-8745-42f38ba9459e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4506ba51-77a1-465e-9b86-b661421abcf4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4895df97-bc22-44d3-b20e-05b97dc952ab phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1b1f2070-f2f3-49ae-9a00-4a060403eb03 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:58a51006-0e58-491b-a4aa-cbc6e6e8097f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fb9322d3-3885-4461-844f-e470ba204dc4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1676fea0-1040-4cf3-9fbf-e347f89f9655 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3701b9a8-cc36-49fd-bb1e-6d136ad2d861 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9f5b5570-4f35-4e5d-8c11-1520f4d0b2f6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0d8ea077-2a3c-4da5-9e6a-15b09d37167f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:482e26e6-b879-4ad1-8503-d4bbc67e9090 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:459aa63e-d13a-49fd-882b-3f66029569d9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1decfe34-cfa6-4d57-9b77-4cbae57d4a7e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:dc44d23f-cad7-48db-9af1-d600f8bb60ef phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b94e15d9-c582-4a61-8ae2-bd89fbf62505 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b0d81ecf-c4b5-4ba3-94bd-9eca1cf5da99 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ab3d0657-2107-4fb6-b195-2c7e066073f9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:62d62903-5042-4ab7-b336-93b5a82450fb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3a95f794-949e-41cc-ac73-4ded090e162d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9bc2024f-7a70-4bde-936e-04df418162e9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ac7fc8b6-7417-46c6-8b8c-75e057e73937 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:9d390584-4661-4f45-8c2e-3e4b9f87bdbb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:661c7082-f2e3-40c3-a67c-c391e130820c phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:c28fa1ad-66bc-46af-b446-0359940c5acd phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:938749a4-7e0f-4120-8aa8-de9bf2408db5 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:873370d1-8eca-490f-bd8b-810e37844c6f phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2026a820-30cb-44d5-8fa8-f552e36c3518 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:162e8f51-5ca6-4a40-9855-ccfc9f0cb43c phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:108411cd-9230-498f-8cda-e24a92d01b0e phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:47cb78cd-f85e-4256-96bc-28fdcf6f7856 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8d27f8c3-26d9-4ec9-990a-22bb096406f8 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:df0fca10-a75e-4762-8a8f-88f3a28d6363 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:46ccf128-ae9c-44b7-ab93-6fc43ae5d31b phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:cae79dc1-268f-485e-b614-b0149fd2a407 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:33e9bc97-f2b9-4aa6-bd6d-595e622e1eda phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:82599a30-ffc1-45f5-9b97-090914e13b23 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d3ab5c48-158d-4849-a4da-193c5393506c phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ca3cd7ca-9ccd-451f-9b4a-392eac118964 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8041371b-a950-4c2b-a844-8a7be25e62eb phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:052fcc20-1492-49a7-9844-98762d0d1d06 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6ae69300-ad12-4275-b026-5ca0c13e3be8 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ec997dba-e3ab-4e7a-8e96-d316bef18b69 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1be10acc-959a-4912-a5ca-f0797ecae0c6 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0066d7f0-aeb5-4b5d-89aa-62a0979de3c9 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6f8ed440-25b3-4f45-ab6c-fc2f3e2534fa phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:113796b6-f08d-409a-a563-17546dd0d7c9 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:28b4001f-96c6-42dd-9a1a-3dac8e92cb61 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5fd1a480-97de-4d83-82df-47877c3ddc75 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f8458918-55b8-4ce1-a8dd-b024dd3b61fa phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:68481485-d3bc-4929-b785-c9f86c58689f phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:53fb6282-21b0-4b25-8fc6-8a267a4bce1d phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:008eedb0-1e89-4391-a22a-62710177ba10 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:54996ad6-ad12-4f91-9c68-9ddab8366cbb phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d7bbad2c-4313-4f48-92ca-7b08e63633e6 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2053ec4b-e7ca-4f30-b114-45e2b21ff263 phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:d2542cec-e63b-4ba1-93a1-ec5e64e03e4d phenopacket.store:SETD2.PMID_37372360_P9 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:e4b64401-1bff-42c1-8343-048ee2cd129d phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:46f48bdf-80ca-4d79-8559-240cb2c8904a phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:4268d1e1-4294-42d6-bb2f-26b193858820 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:de52166e-839c-49f4-98ef-e76dd89eec04 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:b3948906-8b56-4ca1-908c-d49532207c09 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:8b120f09-e7b6-48ea-b666-f4f3fc571e99 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:76df964d-446d-445a-8e21-8e5e722a3dc0 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b946be53-0bc7-4a0b-8283-83e3f0f100ea phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2e0be6ab-c48f-4c8e-8d58-148a92fee157 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:41746293-3f5a-4a50-933b-ec2b597c64e0 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:309dc06c-fd84-49c2-a447-3addefb54234 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8ffaf238-ec0d-4419-94bc-6724a452b504 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6e71b527-d9d5-461f-9505-70cdb41f1837 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:76a3dec4-f1e1-41fd-a564-215f691230ee phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:bf26487d-933b-4049-b3df-b6fb2994afec phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5890547a-fb9b-4dd6-97cc-0f234feb4e39 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:875560c9-5206-49a5-8564-8011d03f3142 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:9cbaaa19-7729-4ccc-95a8-fad632d14f56 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:2c053843-cf86-4329-83cb-629f9fe55e09 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c15b84fa-4bdf-46f5-a074-e52caec8a2e2 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f5cdd9c6-c9c9-418c-a854-0f2c2be967a7 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3a73fd56-d3e0-4cd0-bba8-c3730b018ab4 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ad058595-ecbf-4c9a-ad20-e3d003dabde9 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ff69fe49-4fe3-4ea3-95ff-9681a7f7e811 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:56f39b3f-a591-4110-8ab3-e88c6c8a06f7 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:392d9f26-d5f5-4c05-8e92-a849ca1a2723 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:959aff9f-7f04-4f59-a9fc-435415b51aee phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:49346d68-1c92-487f-a6d1-c96bf9b80337 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b65e1a87-af28-4ef0-9815-fa0c103fb669 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:20d5e901-bfc5-4c7b-9415-c2adc18f267f phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d3467875-7465-4685-a06d-8be9a6493ca1 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:56cc5435-4c2d-42fb-ba8d-30f804cf12de phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a3c6e47a-c6d5-4c9f-8e58-24858103d1a2 phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:f2842dc3-12fb-4402-9b09-7f58e6540d7a phenopacket.store:SETD2.PMID_37372360_P2 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:e4b969d7-a4c1-4ffe-9faf-94e61883dbf8 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:5bcdc2a1-137f-45cf-811d-a564814aa8c1 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:29ccfead-81f0-4922-83c7-98fe77d98010 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:09d98e99-daf3-4907-8827-415790701c29 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:230c731f-b729-4c59-99e7-284400060538 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:18d2defb-186a-4721-9301-e80caf3dca0e phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:b8dc0659-b9cc-4aec-9f9b-341ff7314d10 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8a35c091-e293-4470-9113-216343834af4 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c16b6084-8ccd-464e-9fb0-6828c347f021 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:c5703d32-bbe8-48e2-b285-11df723b2cd0 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fd44b074-c19b-4e21-9f3c-40a0fe173f19 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0c62a343-9846-46d0-aa8a-8ff057d7b169 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4226cf89-e15f-4482-a58c-3882644b84b9 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a5131bdf-f3cd-4334-82e9-04697e1a3c06 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5d9a5427-edd5-4e28-9b22-b65468d55f57 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1d8e5fc9-2d2e-4738-9486-40b4bfde830d phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:563a1c51-ecec-4e3f-939f-b5f9fbfb0f84 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ea3f0b1d-3857-4bb4-96dd-243aa4e0c26d phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d0ba1ef4-0851-4ec7-9977-2d4400e82791 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:da582b7c-913e-41cd-b456-b0df19a39e71 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3bfaec16-d233-4a4f-a8a9-77ea0fd4d71d phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e62bef3a-6d8c-4e7a-9a07-3dcd93636747 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ca70c4cb-af5a-455f-9941-e8723e751228 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fd83b22f-a70a-4be3-a201-cfaf6eb33c99 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:3b645781-7ff3-483a-90c1-189587306b13 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5c059c13-5449-45a2-bfff-e84c8906207e phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:68c6c403-c405-41f9-b488-c49712f2c80c phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5719d0cb-1840-4c24-b26a-86db771503b8 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:91641f93-e06d-4e86-9ec5-7d0550f00e95 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:591f3d28-131f-4549-99b4-0cfe163a8f6c phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5fb56797-5026-4c93-9ded-dc868073239f phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5374fd51-fb6f-4c16-970f-d6c0fdf2cdb0 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6850d68f-11c0-482e-b456-ea471a899412 phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:1f05c865-796b-4983-a958-257932f73a7a phenopacket.store:SETD2.PMID_37372360_P12 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:8d71b2f6-7d02-49ba-82fc-fdbf7d38ad94 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:1860399d-3cfc-4aa6-859f-ebf7e6618eae phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:bcd5f3d9-04d3-4329-959a-1f21581fb35d phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:c241a2ef-e283-48fd-af8c-1a9c45b90dd8 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:03f5a250-96ad-4da2-9e72-a0c312f0ad76 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:387fa51e-7ced-4169-9c03-294a1742aae0 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:a16d077d-fdf2-4fe4-8114-34da799416b2 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:461ccde7-caff-497c-a40b-8cbf7419e481 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4ae57182-1055-4047-a1f3-1b8bc552f796 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b9544632-fe91-4f11-8149-637832bac70e phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:ebb1796b-ab59-49a8-94b9-6d847b8ef6d1 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:cfcb28fb-66ec-40b9-91d4-2baf174f7e8e phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f40f54dd-99b5-48ce-8706-a7d4dc9ba066 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1c48f3f7-a3e7-43e4-b23b-0eb0ba21b8df phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:7b06f824-3882-4678-ab87-2c9dd60dc6e0 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5cfde2d1-2846-4436-b8d9-d5cfcf93fd5c phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0b4ba4d8-9ebe-4f56-86ff-4414acb0c4fb phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f4a281e6-f7d1-4e1c-8f5c-fc16e4f25e7a phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f2bce84a-ef66-42b8-adaa-5ef8dc4c4920 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:83a0d832-885f-42cc-9b75-2c340413c5bc phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:10465751-8c9e-4992-8781-a0bbee86538c phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:6f90cb13-79bf-4385-92b5-e17b15eabd6d phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:68c0829e-7dc1-44a4-87c1-81c2baa5a169 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0b16d141-6612-4f50-9762-e003fe694716 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:28a689bd-ccfd-476a-8311-54138b1e275f phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:725ab17b-117d-4186-a093-d162e04b56fe phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:72352781-d842-4884-9795-8704f4fbf9b4 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:dec8b34e-5bf3-491c-b88b-c52bb7bfddcc phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:474cb7c8-ac51-4f77-ae36-669eedfd9564 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:58dda705-3f7e-4a61-8021-5ee390a193a4 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:4a57e2df-c39e-4903-a7b2-055753b5c2cb phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:1dbf6cfa-5b05-40a6-9ff6-c36174c7e512 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:04c3f5d4-f0d7-4721-b037-ce2f011a313b phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:94dadfed-d83b-42b7-adca-ec77b122fcf3 phenopacket.store:SETD2.PMID_37372360_P11 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:6f057623-c03a-4958-9c61-fc7b6e5a6334 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b76fd326-29fd-4d65-9ef7-4b6f3ddbe29a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b5f91b58-0d6c-42b8-b222-a4dd2bf31853 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:17dbc4ae-0c0c-43fb-8efa-594ea2a235b6 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:153fe14e-2c24-45af-b5be-ef671d1e096a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d72bf944-fc82-4229-9a64-fdfad9d1ef1e phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:76e5e5dd-25cd-4682-9c6f-194e15d8f250 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e2b4806b-ce75-43c3-97ac-25fc38dfadda phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c5ea27af-b353-408d-b9b9-7f1f2bd52280 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3d1adb96-89ce-4b72-a6a8-dcf259211b31 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b0d1ae50-c222-49a7-896a-d9fc44f61597 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f5ce934e-0738-48e0-b7e8-cdf99de7da0f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e1d5484f-fa0a-4f3d-81e3-ea2f56461b2b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8667ab71-efda-476d-aba7-8ec6c3097d4d phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d2002939-7123-4787-a9d3-5c733617140c phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6e86bdc5-49f0-47c2-b320-f3e152cd7844 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:81829db5-5179-4690-b17f-e74db1279ef8 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:39d12388-4029-4693-a78d-bfcf30876e69 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:94f0667f-b9e7-42ae-8e2c-dbd061502e4b phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:06a9dfe8-76bb-45ab-8d98-bcb51d52b1c9 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6092442f-bde2-4b38-9776-85d911f6085f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:719ac8ff-2ed9-404d-b924-7eb4febb2ab6 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3b23dd8b-8e30-4e84-9310-ef796fa22c2a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3b404214-56ee-433c-a8c0-813bf7dbd3e0 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e5254820-f69f-4ed1-9f0e-f355c4cb3ec8 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:313d3a1a-6465-40a7-be83-08a91d77a49a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f2e2bab7-aab9-45b2-afcb-1d550efe4272 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9099ab53-0155-45c2-9ba8-54f28942bbc6 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1ecfbe99-be5f-4883-b109-9ce04aa1b74a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:27f3d02d-3676-4ea9-bba7-5adafe7ce967 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fdf1daeb-cbd6-4763-88c8-7dde68a9b4a1 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a392a687-ef50-478d-a823-174b5d28655a phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f5d29da5-c75c-40bd-a017-8d57f7c38ba4 phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3d2da9cb-bea1-4900-88a6-04b8f6202bac phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9da0d1ca-b156-4283-af17-9404e1d0b96f phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_disease OMIM:620157 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:cafabaf8-0394-4060-8dd2-18185baeaecf phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:c632387a-0ec3-4adc-b80d-b41ecbe6bdf4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5b3075b7-aa23-4388-bcfc-0b187b41752a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:1a9d9a89-cf4b-43f9-8507-d499e021b58d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6cf623aa-62d7-41dd-a82d-46932b192dc1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a3cf9a61-41a0-4794-ba8e-64117bc51c72 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c8a90eef-9958-4271-9b85-64045a9c5d69 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:66370a5d-e021-498f-a966-a8e16ce0be8f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0e56a291-29cb-4d31-8ec5-34518024f914 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f2657b29-8a24-4972-b350-bc3e9a462da6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7b999234-5c02-4484-b4e3-1fab48d1ba2e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3dfcd7bb-cfd6-40f7-accc-c5045d29225a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8f093419-c6e4-41fe-88a6-20cd78891206 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ccdb3c46-9f70-4f30-8b3b-aa474108b26f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e41f3a6b-8e96-4c3d-bb0c-c1062121951d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ede9a759-9d73-4923-8c82-0e939270a071 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:39a3857c-6f64-4849-aee4-062316dba304 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:36c08a52-6f0d-4614-829c-3db9a212ceed phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c953abd4-6c95-4e20-a95c-4a703c4ad640 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7c546a36-502f-4851-a0cd-de20837d9f84 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:72f12681-f1da-4226-ace2-c009d67b749f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5a0e1668-c4e2-4447-9dfa-a30a24adae01 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e13e85fc-2b72-4230-b74f-4f1a22f837ee phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f3a065f5-4e15-43c7-a5a3-431160101872 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:47783f65-d0bf-4325-83de-c8b509d90c4c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:75734a7f-00fb-48b6-ba59-60018fc6f3ce phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:1e188c9b-5f08-4ac4-b129-0edd36e3a00c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f8ee21cd-7167-413c-b082-d59def4adcab phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0007973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:74ed39be-769c-4373-af9a-d7aebc6d47ab phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d3817676-b9ad-4e27-a198-facea3f6cb57 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:86b4f54c-9b59-44ee-ab39-8cc7351a4bb5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d4a43564-d254-418e-b11d-1f21618c1420 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0dde3ca8-3869-44ed-95bb-1614d0d6b0ae phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:187d1d54-2fa2-40b7-920f-283fd1bad12d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3d4a6010-349b-4cf9-bced-983667e45ec6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fa05fe8f-b046-4f61-b495-8304572f3cf1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:17a0ebca-f91e-446c-9e01-923e764916ff phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6be68923-a784-4b83-b595-9cdf7f9fa062 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6e39d9e0-f627-498d-a523-2f0df02a44fe phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f996ec40-82e2-4cc1-bb85-bdbbd96c0f1a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:32ea6d6d-4a93-43a5-ab67-259fcf6f7486 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9e710d74-92bd-4931-b3d5-e43003afb6a9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:463ebd63-a8e1-4b3f-b4e7-b2c363b50dc7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4e57fd36-0742-4dc9-94f0-72b086f03067 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:35e6689f-a187-49ae-8661-6b5f7a721f08 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d0cdcafd-a7ef-4c9c-8db4-55162dd12cb0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:53dc4d3c-6d6c-44a9-81b9-9f792b943b6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:439ca194-4620-4346-b542-f8b127a3f82b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e1f1d8ca-404d-4ce6-9b2b-b8936106f9ef phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fce199dd-5941-4719-8ef9-608b8cdd8f57 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:608fc4cf-853e-48c9-a06d-aac9e8850762 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ae6e4d13-1f8f-414c-946c-faffd69860f1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3040fea1-426e-44dc-a576-966b2223fb6d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:809542cd-f2ac-41a5-a3cf-4e7534bbcddf phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d9b6125c-59ff-4d99-9320-45362d79b68a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6d49e47e-4792-49e3-821e-f55e0f74af0c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:509a61e5-3831-4ee4-ad32-7793a87910a8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f73730d3-238a-415d-b3d5-53623c392ccc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:c7d8e2fd-4aee-44a7-ad8b-5f4a2226f35c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:ba4c55f9-5302-4bb4-aa43-9b41e2f78bca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0012722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3845e0eb-c8b0-472c-98e8-da91146e994e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d73c996c-5900-4592-ab9c-ff24542f90ca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5a80ca71-0add-4a39-9674-cf8dd0295f9c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8d5457be-fe92-4963-946f-b46999724310 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:152b0f6d-cb05-4076-93f1-3a39455d1f53 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a91efccb-b8f1-48ef-967e-6cf62b2f58f0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:eba5bae5-b220-43cf-8159-2b27f458b6f9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e205fd2c-b863-4229-8bce-f1dc8e3f4c43 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f871ba0e-4db9-4a09-a7dc-cb75be1ccbf6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f8a260aa-81cc-4ad1-ac50-b2d70c6a4f83 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f40d1a94-5680-4890-b841-5ec56231b9a8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e3106f70-6181-4243-b58a-5e6924a0776c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e2bbd2b0-cd7a-41fa-bc5a-834373a80637 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e6d2886b-6587-4d8a-a7ba-d61f2ab428e5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:014cee7b-289b-4e24-a078-e8488ff9de3c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:12c6694b-c8e7-4d42-85a4-dbd46b5ad6bb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a0249c6b-150e-481e-b097-ea1f8846c7ba phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4f6e1596-a690-4656-aad3-cce18d235456 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:37c28af7-3761-4213-9cad-1e601be2ba6e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b7ae43c8-d1fa-48f2-ae0a-5dcf5480ed2c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:07332efa-399b-40e1-8ab2-5847251a25ec phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0003083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b5121578-6774-480a-81cf-979a5ab6c69b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a973349c-8e14-4e70-90c5-67c2ed4e1254 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:bb351ccf-d802-4d69-8a3f-2974745aafaa phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:02fc7676-3a2f-4a45-963e-3380aba203a9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fd151fe7-6109-400c-a71e-5223c3d00793 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:164fd669-85e7-4116-99e9-4e0f4db8dc52 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2c11937b-db02-448d-83bd-7968af0a072b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3d964e78-114f-4b45-a2fc-d697d608fb24 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0034396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0bca2b27-446e-44c0-98eb-593e16f8cb10 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:25b83926-7aab-4b0b-8944-b46e3fe4c5f8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:897dbec6-d3f1-4856-8047-823ef6cedf07 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5a9af315-03b1-4e1d-935d-f8fb1f32d24c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e76c652e-5b00-48dc-860e-36c4cdaf42de phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2937dd5b-34e2-4e0a-8ff3-0626c2c8e640 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e3779aa2-0ec0-400c-b6ce-b6e2d37dfdf7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0977aba2-ba81-49e8-9c75-e2671727d1d7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0009882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:92d34a0e-787d-4909-bc3b-8b959c64889b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:997e3abd-bc39-41a1-b331-391c68ffe307 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:285baccf-6e41-4e99-aa07-5e50e655f623 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:52db4d15-7990-435b-9359-455bc0db054d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:cdb393f3-3e41-4821-aec0-ed8e11f0c6ca phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4bb326a2-7e0b-428e-8cc9-99e603725e2a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c1a8f185-bc25-464e-80b2-5653bc9ea959 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:56e59f2f-57ca-4162-88c6-07b8558dfa8d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2689d031-04b7-480c-bf19-01b63f8e09a4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1764d293-3137-4317-b3cc-df8bd670da98 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fda73fee-13f7-43ef-92f6-e63344769ddb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d7bc0758-6ac8-49c5-ab66-e8a6cbfc4a2c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:07695d77-166c-49c2-8ca4-e27f2b7086c1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d2c2501e-85d7-4c9f-99a9-512095290b15 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bb25436c-3f1a-4f95-8515-f5109ca43e9b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0005616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3852f5ce-d9c7-4f5a-a878-2dfc610c99de phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9cbd5b3f-35a2-47bd-953e-d25e40356857 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c287e8b6-fef9-44d6-8b95-e3e4fa1747cb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:86c1c205-ad2b-48af-bada-a504b3dfefd3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b8d6431e-d7f2-4d45-8c3a-1c32267a10ac phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:75f43388-612b-4996-894f-ba5f8335e51a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2b99f7a7-9d7c-4de8-ba18-5481142a2aae phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:04a96171-6da2-4b1d-993a-e05c4b9f008e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:971597c5-0be5-4ebc-af16-6d7e6c8aa4d1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:90b9f6c4-4e39-46fa-9f50-8d357ca570b5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5e0a1e79-f086-4d70-9005-dc835fec31d7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:46f8f891-8544-4a74-86bc-6b848046b02a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9d661687-6727-45ff-bdf0-87a0ff0b154f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9ee664bd-7424-406a-838c-f7cab3fc4554 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ff688745-ad74-418f-8658-9d2d3e116d97 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:95c3b547-2adc-4f40-9b2e-c72281198bcd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:40210899-a361-4b6a-a6f6-4567488d7ac5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:36267966-245b-4688-9353-2ab8a0df2540 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4d90dac5-7e15-41f4-bb01-122fb6481acb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0031218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6ff01d7b-6064-4977-88b6-bb1fa55f44e0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b67fb523-3edd-47b9-b2f5-94c7ce115271 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:32710489 uuid:b5d9a1f0-aadf-4789-b118-76a3f1a3d42b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:14ef2453-9f45-48a4-bdc8-1fcc24ead4ad phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:190a7078-f4a1-407a-8e42-9f4a378882c9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0e1ad711-8c49-4a35-82be-8f139b86bf92 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3e666b3f-684b-4f05-9ff6-44a53e5a5474 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:651eebb2-9780-4de9-b501-9cb4e384c580 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000239 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:38b6ede8-6b72-4743-8d17-5420fbf8a901 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4e58aa46-a837-4230-9779-a831f346a5ab phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:31c48dec-c67c-426f-8984-b01d7b44e39f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fff23d5a-8ef4-4e61-9349-5433127897b6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:81f4f1a5-d4a6-439f-b89d-cbfaaff64836 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:98d7e017-dc0d-4dd1-80b8-00527f170cb2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:36041b5a-6132-48aa-9bc0-0705998b4c36 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:1dd8ec52-e68a-45db-ae1f-a827c8db6580 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:bf4bfb87-9cb7-497b-90a9-a7a17119d926 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:24399c9e-38ea-40d2-b1fa-933ee0a41f8d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:49c1647c-6952-4533-80e0-8de3c16b8bf7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0cc676dc-d93e-40d1-9f02-1e7ecde32b67 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f916b005-5105-4dc9-9692-5b84f261e7ef phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6c4403d8-1601-423e-ae93-4fae78186e8b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0004712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:680d7e7f-35bd-4741-9904-11a073b137a5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a628d4c3-5a09-4e34-83c1-84f132f3218b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a4a97670-8d14-4e95-bbed-5f0479875755 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:73ea7a92-c027-4996-8ba3-2c2cb3be91a5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:86ef2c82-1bb7-472f-be96-8611ae4addd1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3ba1d5e9-fbcf-405a-9533-ae2d56652e36 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:708d52a9-83cc-4ab4-b80d-3aa43a59294d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2465c9c8-a769-42f1-aa66-db4d3f1dee82 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:029584a6-ac88-4e5e-86e1-4abffc6bb021 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fad0d9a9-6fce-4b8e-af8d-8bb1bc08796b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b4bc9f77-feb3-4e2c-9184-e0eb10f09f4f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:98610d4b-000a-4778-9f5f-f0b32fd9ef0c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b85101c7-a89d-4097-afee-7c142de05938 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fe99cf37-c3b8-4310-94ca-4c3bab6e6c60 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:21f4ace7-9d44-420e-98b2-c882f0295e71 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c2aa6dd7-5d4e-4f92-8312-9b737f035e12 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6afedc39-8ab4-4347-afb1-b1991af23f4c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e3fa9a9e-3027-4bf8-97d5-2de222a9f0cb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ef288d9a-d486-4224-8b29-583d167d0d85 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:627238ca-e151-497f-8217-89021be2f113 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b7c6bee3-39f9-4f9e-b95f-7de140423b70 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:06eb9da2-3120-4a79-a718-c73d7e597134 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:80e36fbd-f994-4996-8109-e3f377ae759d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:148f50f5-c4f8-4689-97d6-62b1474080f3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e675ff31-ceb9-4e73-86d0-6b49ae557aa5 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1da14cfd-17e9-4712-b6f3-ed01ee9b1694 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8a457906-2a2c-4e6b-8651-e672b6ade109 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3e9cc4ef-8cbb-414d-9481-456ed2b9a568 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:9d67a9e7-626b-453a-881e-03a329ed425b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5a673f5e-efd9-4397-a96b-93161843e240 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:281848fb-dd57-47a3-a4bc-a55666e726a3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:edb0c960-4e4e-4eff-8d9c-384d6069ddf6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:611eaa3a-a9b2-4aff-a1b5-3a9bb6b5910b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:96d258cd-c348-4ef7-8ede-265ea8b6d454 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c61f4818-6e34-4288-869c-9bd72d64540c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ef3e87c3-08ff-4345-82a5-f9ba986cb761 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:20d55e9f-7ab6-4bbc-9690-297430fae804 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:50cb9d36-fba7-494e-9302-fdda7cab9582 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a04061e7-5d78-448e-ac09-f7962044f71b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4de1bf55-696b-4006-ae1f-bcd48cb5c5be phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0100600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bc5a6715-7a50-45c5-8da2-9beae33212e9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:0a8f5fa7-7035-4729-aa77-4d77fe5ae5f8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6a9fb423-e7f1-4bc2-a968-aeb2aaa542fe phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a1b9d4bf-067a-4b5a-a347-dd530046ddc0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:15c8d048-f045-4a1a-a3f0-891701435542 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f8dfc7f9-9c2a-4602-a138-d75bc9900d85 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0002444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2679eac8-ba41-425b-bb73-dfe13d2f1634 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:23011cf1-253d-4c19-8167-14866bb9ce9e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e1598047-b114-40e9-86f5-29b9f65704bc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:fe8dda03-1ada-4357-ac88-4144567a40a0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8a143601-c706-43ce-9db8-a8460dd8ca96 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:03d2e650-ff0f-47fe-92a4-62e08ad156cc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:688fe98a-3653-4315-ba9f-37c28bad9920 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6007d0a5-a0b2-49ae-b7af-13a8a3dc1aba phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:4fc424c4-b1a4-4417-97f8-9cc21309f471 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:77eee598-6cad-4410-83a4-1a3b7ec5f506 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bbd11ee2-546e-4c13-99e8-d5a199617906 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d72dbf42-02c2-4220-82fb-fd90f54eaecc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:02277394-4de2-4b9b-8d05-9e34ff6568cc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:c4d00f13-8ee8-4807-814a-a9093e7a5d8d phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:16e16535-c2ab-4be5-8e1d-ef34fe07a392 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:9d66fc6a-b69d-453f-bcf3-31de8319dac4 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:b19252e6-9b95-4050-92be-8950a576c60e phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:3f4e019d-8b71-49fa-8332-e21935f298ab phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:9d316335-09fc-4008-a8a8-d014ca7d46ad phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:13efe5cd-ec83-478d-bce0-dd802e2b816e phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:c5b32804-b9bd-4e42-ae02-78b666445404 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37372360 uuid:fcbc943b-5e60-4766-a1ee-c7168a41d7a4 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0004233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d8132af0-10ff-457c-95d4-8b00f4c921ab phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:e52ec5f1-0915-4525-8359-32e05bc83f1b phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d9c6dbd7-b760-4bc8-b77a-903f781a8999 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a6e06411-64fc-405d-b9d2-0ff9bff47975 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d4e4f27b-bc87-4086-b5c4-9900d5bb1d8d phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5fbb5241-7691-4c3a-a10a-76db2018a67a phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:d3bf370a-3cda-4232-87d8-806df1df71e3 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f32c4b48-f47d-4039-8546-bd23f059a866 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:dab37c09-ac30-48bd-b59b-a54e8a6a4906 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:9b85fe4f-504c-4f71-9cbd-82a5ce040026 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:f3df5beb-f68f-4b74-a2e5-6814b62e1b8c phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:fc1756c3-ea72-43c2-b7c3-f4660b5fd095 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:5564bf51-994c-451b-84e5-af7c78101873 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0011427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:79d08f1d-0017-4572-807a-a2afe7ad7c25 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a12e08a5-ae77-48f2-ae2f-c3363fc022da phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:0b1e459f-f99b-4a10-acab-d6dd791a0d77 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:a67bc0c0-964a-49bd-894e-8d87da88079e phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:8b848ace-eb37-4eca-ae4e-4352a7219dc1 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:91f5c623-d492-4532-9b99-b952cf17be7c phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:b6ae7939-107f-435b-b039-d69a2f9f1719 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:34b878c1-8fb9-4c82-b93e-8ea259463627 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:afe41594-59c9-455b-882a-dcdcc02dc2ce phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0000464 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:116c9fa1-fbd3-46c1-9d61-a38a45fe1641 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_phenotype HP:0007763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37372360 uuid:40bb81d4-0617-462e-ba63-d85ce279fb97 phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_disease OMIM:616831 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:abf3fa48-5bee-4d53-88f7-d29ea3355f9a phenopacket.store:SETD2.PMID_37372360_P1 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37372360 uuid:6c3d4704-ad75-42c5-99aa-400ade610869 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:32710489 uuid:5515af21-c7eb-4cce-ba87-f97dd37a9754 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a3adead0-23a4-445f-a157-794ff762ecea phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f2fb77da-0894-4d16-af6f-8c98e169466c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ea06d6e0-8353-44f6-b27c-ff4cf7885640 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8cd678d3-bd09-4573-8a36-cef954fc7351 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:1c9664fe-2bfc-4bbd-9a45-5c2ef138d33d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b5769ab4-b062-41ca-8ebe-b8832e3841dc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:94d84d36-aed0-40f4-bb75-3db69c711823 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e2f92fbb-e24c-43a2-974c-ffbb693d6142 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8eed24f6-619a-494c-b140-a5b5ab7deedc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a8829ad5-67fb-4d1c-a47e-730862dd3e09 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5e7f89ec-b554-4c92-8502-0261b548a7f9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b9f119ac-0f5e-417f-9dc3-b396068e3bcc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:809b2695-721f-419c-9a41-68687bfd85db phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:2732b633-8752-42b8-90f1-7f51af9f6681 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8cdd9bcf-4583-46c0-a332-224ca7723bbd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a1efda11-0cf4-4b26-b692-8d72716073fe phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9d75b48b-50e7-403d-ac01-e92b68eb9f59 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:729b0963-1172-4429-a54b-3f5542ce4da3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3b7b1e1a-f9e5-43e7-8bdd-dd1950916b0a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8726758c-784a-4d92-9fe9-1f68a9639046 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:dcbcb68f-f022-4f70-81c9-aa747bff2a73 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e62517d6-423d-4a0f-9e32-3d0510b8c6e8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d070c35e-134e-4d39-bd8b-1f167f0587ee phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b8714a41-1ea8-480f-842b-0293de5d2b9f phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:7608f085-105d-4cc7-a04e-6a1fee7e178c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:ddb1c6cd-9c9b-42ba-a280-17aec5d41aee phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:1e1e9267-c826-42bb-b0f5-ba2295ec92ed phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:4009a003-f7ff-4169-9359-e87ff7bfa06b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:3a1a70e7-c19f-4b2c-8811-ed1034b409b6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c2f24d9c-b4d5-4421-9d49-20910fd5a465 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:cab30532-c00d-447c-bb13-b124b2a1203d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:190ace49-8faa-4064-a1a3-05adb6e61dde phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0500049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9213f30a-db10-4fc6-81f9-8d72159b942a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8e94bcc7-0e0b-4691-a170-7dd38483a253 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:64ba54d6-491c-41ff-a278-9a39aa07ed7c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a0c20ca7-b84a-4585-9a91-c0443ade539a phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:03bd21a3-669b-487b-be04-7789831dba88 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:305a2809-18c8-46c5-aed3-c2476a7f9a72 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:540fc713-12cc-48ee-8264-863b63423d64 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c20975ed-8939-45a3-bdfc-f505e28afa0c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:419a862e-5f04-4ff1-adb5-a845feff4e75 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:90da9ab4-7a51-4f71-85e0-b4c1c0e3e493 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1a95546d-9156-4fd2-81ae-1d83b57a9c8b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:048057e9-60c3-41c5-a347-5e7c9a6d3e15 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c57de83c-8fbb-4de1-9a8a-b1f16c5362ac phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:03621ee5-7c21-4dba-b2a8-ec4c719bef39 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e382aa69-207b-43aa-a86c-e267693fdbe4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:358335cf-7e71-4353-98a9-b9e57cd367df phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f5f108a0-2717-46c6-9fc6-89bd0b3b6188 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:58803f55-6b24-439d-b841-c54af878a0c7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c17bf1bf-d79d-4f79-8599-6615269853df phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0004712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:ee36aaa1-a3d0-4434-9a6d-c904bc6388f7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:1a19d754-cbd6-4fba-aa58-fbb9651ad6f6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0100600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:8389d599-3371-4003-9c46-c618bb42b509 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3e088b65-f03d-4fc7-923b-191e7dbb79e6 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:249b652f-6b93-4b76-9503-ec68df71873b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c1b52f9d-5a8a-4e9f-b910-0cb2d7df102e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:5a60b7fe-f228-4dcd-a016-7b6813dcf78c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:b8d0ab94-7714-4054-9036-362893616bd1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:84737830-c20c-4ccf-aa21-d9b8f2a8087e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:10c1c512-91ea-4000-aefc-0593546e2aed phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7c52808f-75f7-4559-ac47-15ddbed14406 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:983c21fb-077b-4945-b80a-3155b14605cb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:dd7c5440-37c0-438a-a816-1372313d684b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7f2fe5af-751d-4f7c-b163-4794e8498967 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:f192e7ca-5dba-480d-af79-80a20579da7b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:30f0748a-0989-45a4-a96b-ad621979aed2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:f7d4e3d5-020d-4027-a043-4b75c0e8fcab phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8afdf7d6-090b-4a33-9ec3-28c426b46b58 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:22db07ac-4643-4a5b-9d42-2cebd98dcdbd phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:e163e0e8-da1d-4716-8ca0-0d9f09838358 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:6e4691ed-5bb6-4bbf-b95d-1d50ba03740b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:b571c91e-27bb-4e6f-ae38-b9faa3af0805 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c3d813f3-9792-4c24-bbf5-0c89044371c9 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:870f8a3b-bd5f-43c8-9cb5-1ab7b57bf720 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:351a84b8-0596-4919-9fed-5ef46bdd044e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:5496c6c0-c840-4df6-ba23-df0996085e35 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d07bafe4-3bb9-44c8-8c9f-41af4bfbcb2c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d04f3797-4f3a-48d6-b209-da9f4b5c54f1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:8f392875-95a4-4dfe-9ae7-80957727b267 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:53708a97-1c13-452c-b8e4-486b36180493 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0034315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:248a65ec-8db0-40f2-9849-28cc47e07524 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:996245e7-77e7-4288-bc75-8240c0759a45 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9b9ae391-e6af-4eb1-87fd-575bdff19f9b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c5367065-fc76-4c49-815c-59cb347105e0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:19176dae-b053-48a5-8909-825259c29cb7 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:c466ae7c-cdb7-4298-b900-dd30da2129df phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0009907 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:a11810b9-ab7c-4669-9f99-68ab87659350 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:38d7b06f-f958-49e1-b505-fa440a71d52b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:14ea93f8-eaab-4349-bfac-682ac33d01cc phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:9e1c3055-a121-4e42-ab25-5dcf72822f98 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:d7a6e4a1-b0b9-418b-a123-998baa231b53 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:0fb0705a-e5ee-43d7-810a-70c3e9cec656 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32710489 uuid:fdba8c43-f520-4173-9cea-90114b4e9bc8 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a285d9c7-a404-4bb0-bbf2-acf7e1352a21 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:66299939-84d1-493e-a2d5-a752cd897de2 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f938b213-2464-4a58-bdb5-4801055115a3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:cf827e4e-63e6-4989-b44c-d5bee0444108 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:d9832aba-3074-4d48-84d8-5f7204068652 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:2eadf4d5-1f3c-47d8-923b-61971e2675d3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6098897e-f884-4b97-98ed-e1af0a028c2b phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e10d0989-50bd-4277-980a-292764bb450e phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:88bfe410-1f96-4956-b1aa-2b46ac2f2d91 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:a37e0971-5a83-43ea-b5f7-8cd695e0e510 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:950858f3-189e-440e-9f5d-3b7ee8df8215 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0004415 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:6836a98d-1de9-4739-ab9e-895a1e7bce50 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:60999f9f-c7a9-412b-9845-822661be5321 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0004971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c872b6a7-3789-4e77-b9a0-572ce0a8d83c phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0031655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:355c5ed1-d7a1-4ff0-8cbb-a22cf995f987 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:86a34688-5b87-46c8-8776-fbb77495b636 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:f5da8d12-3c0b-4cc4-8236-141bd155986d phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c0773869-099d-4e29-95f8-7adceb97e0d0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:3a626b02-2628-4d77-b58a-922c7b23f929 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:15bbc86f-d593-4bd2-8c3b-ab89213c85d4 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:c28bc412-0f71-4525-8c15-12ae2a92e4ad phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:bc0f68a3-d886-4df5-919d-a0e1da879847 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:7259ce56-a409-4910-b8f3-d4b4a2041de1 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:279d63f0-61a6-4a96-940a-03da90e7e5e0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:90768642-4723-4d2e-891b-3469e7842ddb phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0030025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:712d00e2-0b05-471c-9518-3164f0a697ff phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:985d5551-2514-4d28-ab8e-0369525c2546 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:047c8287-13a2-41ca-9758-8e01f3473df0 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0040019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:933cf16b-8000-463f-a808-d897d47c6850 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:225b2338-0311-4c30-bd6d-a1f379ae8e10 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32710489 uuid:e9fd1867-2867-40ab-8db2-2f094a043c99 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_disease OMIM:620155 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:70d5248f-b21e-49db-a821-99b9929354a3 phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:has_gene HGNC:18420 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32710489 uuid:8363ff59-61cf-49f3-98e3-4a65d8e3962d phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:09eaf001-2609-4913-a38e-43ea1ae638c7 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:3282bf03-6c96-4791-b1a5-0fece2c29388 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:e1cb70a7-c53f-47b5-88bb-074026522134 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9f6a316f-d48b-4ff1-ae99-7f9e2b919caf phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0c07f262-d5ad-4cd0-8017-b582621fe317 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:20c89ec4-2c8c-41c9-8c00-e2af70e42f98 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:eb9a1291-77f6-467a-bae8-caefb9324b7d phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f9813b0f-cbbf-47e4-b7d3-c4de86ffb430 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:de962cf8-4ba9-4fb5-8198-0696c418abb0 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:9c0bfc26-e13e-48c5-8da2-e30c2352b39c phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:ad90a123-9248-4cc7-8635-5d80dd9ace35 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:92ae380c-5a92-4387-9c1b-f0d217d8657a phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:2a1fb048-6847-401b-b890-a20599f1a34d phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:b67610b4-5ee7-4db0-80b1-73b114c7d151 phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:377ccf1f-c093-4102-b65b-ccd3e96c1d57 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:dcf13662-fb3d-4bcf-82d0-99c167bc8bae phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a91101ce-6f2b-4281-a4a8-a29e8ed89fc4 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:7ab47903-773d-48e7-8afa-834fd691a824 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:d4f4afa3-dddc-4341-aecd-180b2c44c1b1 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:b258442c-efc7-4f52-8939-d0ecf8a906ac phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:38c6739d-5f18-4e52-aa5a-62beb0ea4466 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:44c2efdb-bfe9-4d08-985e-2b4c790e7c10 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:0381df49-b470-4977-9328-0cbc45b7ff24 phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:11a89cbb-643e-4a2c-99d9-0c247690301b phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c5a981df-0499-48c5-84e7-7176a8e2d82e phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:64a393af-9ec2-41ff-b3e1-a099c65662b4 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:5af8b913-5589-42b7-afdf-8749944b4651 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a520b499-a837-41a3-8313-a34ccb48a226 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:923a3779-1c7f-404b-83bb-22ef3e25d7f7 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0012478 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c756058e-10a2-406b-924b-4c4174b3a946 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0de069df-7871-4d9b-81f4-d56c26d0e963 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:26551060-bf96-40a0-89c3-ed56b04242be phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:63ef05cc-78eb-4bf5-b8ad-3e2624e70d13 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:01822642-0d1a-455a-a1fd-852470dd8463 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:305f73ff-5c8a-42a0-a8e8-ccc2d11776e6 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:bb3974d8-8341-43c9-ad51-6958904be0ed phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:e048bd3b-6d43-4e79-b56f-a159aefc1907 phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:9f8f521d-ed95-4eb0-aed4-89a081232de6 phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:6d7a2b85-5a35-4761-a264-8e51a39f74a8 phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:5fe0e6b0-b8a6-4f21-ac47-dc8b82f6eb1c phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:1c6cf8b6-3146-442c-a7ef-bcb40f3d1b23 phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:8a28a6be-ca2b-4ecf-8d63-ef2d9f3e397b phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:3ba98407-86c2-4fa0-9390-83aa3c16e5a1 phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:591e5a09-e156-4d7b-b92b-5a3cea88e49e phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:c919974c-aaf6-4d70-b848-756686edb750 phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:db46913e-c1c2-4580-bd24-0e270ba44226 phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:21451907-c58c-4867-9ca5-5ca2e44a2068 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:f7cbab4c-779b-4221-9877-b639eb06dea7 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:7746e157-3d6f-44c1-945a-ab8f0e8a358d phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a926ffc0-1299-49cd-a478-bc13b1eb05bf phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2777284c-64ae-4d7f-9643-16775946c952 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ff6bd3ce-df7f-48b0-93ed-254ad595a8e4 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:42a55aa5-417d-4f16-8a6b-695e0b1be48e phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:e495276f-3df4-42c0-b71e-53e149bd1255 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c4220842-d6ef-43a9-a8fc-e52f72a8c2b2 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:aa6c3622-17d2-4bcf-8667-65d5f2d7f301 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f0273f19-05b5-4a90-9b1c-db3378f2be52 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:7c71c2fd-e908-4dc5-914f-8584e0b4da0b phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f9aa8189-3ee3-46c5-9282-483910d6194b phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:fbee85c9-c609-48c3-b635-db6579f5d5a6 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:5a54ed9e-23b6-4a5a-82dc-593a3d7f1316 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:1dceeebd-bcf4-4324-9137-07734c9cd1eb phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:25ab823e-26bf-4eb8-b0e5-54d0ebc8faea phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:67511b0c-9477-4972-8d5c-2789aeb865d5 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:87d78880-e89c-4fc0-a1f4-f04aac710fe1 phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:22af92fe-db29-49a3-b290-e75627440d84 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:84e252e7-343d-4777-bf05-b83fa822e5f8 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:99b2a8da-ddc9-4f13-9a5d-728819f8e0e8 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:641f2611-40a8-4eb8-b7f6-61a21c9ed89a phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0405379b-1897-4d36-b8f0-cbfb98b404e6 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c1e70d2c-e6fc-48ba-9221-2fd46b0e1126 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:dbd7e40b-88c8-4d38-b667-81a392b47d3a phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:8c70ca8e-bb3e-4887-8124-31d5ff827299 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:6fa3dd66-783e-4426-ab82-24fe1660142b phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:061aae0c-0071-4128-8f52-bab2a1d24be2 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ebcac838-f4c0-4b7b-8bbc-40e503125b79 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:4562a191-820a-48d4-a120-9b99464f60f3 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:83f3cae7-542a-4eb5-918c-c427c2f44627 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:ee710738-7a37-4555-9857-3230bfb1ed0d phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0f36e2e3-f1cc-4b4c-b5f4-665420fe7b14 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:1dda1e00-eaae-49ee-b15e-241dbfb373bc phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:436cbe25-3fee-406b-815c-2d76bbc7b488 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0024ab8a-3ea6-40b5-8346-c16827fc93c7 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:df11e88f-f97a-4929-a1f4-6adc3062c39a phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:00a15653-dd5e-4e51-bd41-be6e06870d1c phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_phenotype HP:0012478 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:38f1d989-cc02-44a4-b212-aecd351a8876 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:7f4cdc02-fe8f-4407-b058-ff67d6ab5639 phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:6d977aca-42fc-4ebf-8707-03e43b3c621d phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:bc970493-2a29-48f2-9ac4-bb6087cfdb79 phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9366819b-1944-4496-a1d7-64a9ac22fb20 phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:7c8f1a68-12ce-4690-86d0-d8655b4b5d4a phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:deebfa50-840c-4ecd-a692-2e0264e48244 phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:f290e68e-5dcc-44c1-b93a-a0145fbbba0c phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:bfcfef8d-4c60-4b2c-8a8b-507c46970b1a phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0bdcb68b-6efa-49d4-aa85-14ca4901709a phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:20d061ea-a549-4105-af22-b926137da0bf phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:1961a804-5b79-48a1-b331-91d48b4ad042 phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:e5ddcdea-fe34-455a-a21a-d759fbb35165 phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:88bc6eed-1a9b-4d66-9f5b-f2201ae79330 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:fa86a6d0-52f5-4518-9700-06b23f3ac7ad phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:b75f4e28-a4bf-4d57-a97d-720fc1aa185b phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9d282c0f-1be7-438d-9c2b-5276bd7c43d9 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:98946d7e-dd01-4f12-aacc-f9aa8b2334e9 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:bebb1ffa-5fcf-40c3-b2d6-28731d4262f1 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:6abfa204-a830-4cd6-bc25-b31a04b2ef34 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:c829855a-724e-44b9-b7ee-90e7144a81c9 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:3c88a05e-f77c-4fed-a500-9debfd988bf4 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:15812163-bb32-4fef-ae94-25c53cf19db6 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:516b12b8-ba54-4ca2-8974-042d9a4e1a9b phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:1650dd07-bae4-4e01-9c3a-acc4af703e95 phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:78cf0eb6-1503-4990-8724-2a0d9a6b67a4 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:28c4ac2f-bd3f-4ecc-a1ef-50fe4f985a80 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:4ce257c0-2378-404a-8fe9-4421723689a8 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:77bba32b-5f20-4928-be89-1c8380c10360 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0004692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:429f6152-5c6c-41e8-93bf-d1600abad211 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:baeafd8a-9fcd-4f3d-9725-8ec6b92d35c8 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ce050e61-4fed-4524-923a-dac73c5a195b phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:bff0fab7-0f6a-4cce-9328-f99dd3db6ad0 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:928123a7-2c66-4610-ac5d-08648db395aa phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:d529f585-ef06-4df1-9bae-f42e130db482 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:e886c43c-8c0f-4b3e-bea8-43ec5a03f5c0 phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:d102d44f-a880-4d70-9e3e-057e968e67f0 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2aa49fb5-aad9-4b46-a2ac-56fc161008f4 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:18bc8bc9-6b01-4245-92a0-759c3e74999b phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:f9014b33-6a5e-4520-9a9c-8d48c95d6047 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:61d344fc-d58c-4280-b8a4-e30cebd31561 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:6d09ef4e-d04c-49bf-bb2c-4e6c01c858af phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:78c58e46-9a94-4c1c-9be1-392ba3ae4cff phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:f68d7ce0-e3be-4529-a5ae-e81efb35fdb5 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:6c4775c1-8dde-4bf9-8826-118b4f437608 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:e1bc87ba-7dd0-4db5-8498-55a95624ff53 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0009554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a797b228-ad7e-4508-abda-4c3c43892e70 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:60babb3a-89a5-4b6e-bb68-0b268147f31c phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:c0cec85d-1c82-4cbf-b9e9-a8f694eda039 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f678abf3-ff17-4827-8191-0b6639460fcd phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:363bfb39-5e3a-4e6e-8276-ca4bb7eafba3 phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:dd1a3699-1506-4726-86f4-18e789c59e28 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2cfa13c8-867d-4de3-b75a-5dc784b4c68f phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:29225e7b-d229-4d2f-b8e4-b23382cef72e phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2c71c9f8-10fd-44a4-a096-8aed90c80052 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:6028b22e-977e-4558-a0be-99e5bf490ce3 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:67cfe848-e855-4ced-9bcd-62e03fbcd000 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:3e3b3f3d-657b-4f20-a44e-26f4f0d83f97 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:6849b69d-d587-4a90-abef-92c57a9a4226 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:add5e501-c5e5-4cad-be0c-eb975ba664f9 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:9412cd99-271b-44c3-907f-fc7e4ac0a639 phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:be21e33c-fadf-4167-b122-3fad0547fc87 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:436de340-44f0-43c8-a303-dbc1213321f3 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:be7a7ca4-f37b-4af3-90fc-f92ce5737d7f phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:d5f18f9f-6274-469f-8374-e0739042c02e phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:007da3f8-92c9-4fde-ba0c-1bf38e001535 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:985930df-1ed1-4493-8de1-7531a216fc96 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:efe649d8-a691-470b-9155-031bab05c5e5 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0d6cf389-59da-4c5c-8a63-74ccb8c38f64 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:36c5e10c-ab3a-4b4d-9093-94801971a6db phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f0bf9d25-57ae-40cf-9a2b-854f6fe7de11 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:630798b8-1369-4ba5-a138-dc56cc8476ea phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:ba20a152-163d-4d69-93dd-2b8591696297 phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:c2d027ee-6f24-43cd-a483-9243c4a44b9e phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2462365e-0660-46ec-b64b-69bdedb271b8 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:607512e8-7dd8-4811-81e6-2cbd8e725d56 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:07e2aaa4-77dd-41a9-b2f8-b8a870ec9837 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:db4a3c83-fe29-4d7b-a43a-a477946d41b4 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0001607 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2cb1bd25-6fad-4eb2-996d-531928538df5 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:19356f6d-034b-4fab-83cd-7874c051171a phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:23ae5d28-14bd-4d32-b28b-87a5f0583647 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:2e218da9-b350-4ca3-aa7c-74b38b7e61e4 phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:e0c02c9b-50bf-4511-8baa-e5c877a4dbb2 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ab12c176-325b-45a8-b2a9-d8ddc529f4aa phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ac690174-8262-4f17-bc06-86b427eaa0dd phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:23148f32-343c-423f-9057-22cd93734525 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:328591c8-32e7-4f6a-9fa9-2e25c9d0c904 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0a64b4e2-433f-432a-b473-7f3987a082d9 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a5eef218-d79f-4e08-b9d1-3a283227d623 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:846c71a0-4521-4220-9c0e-3784b2c58652 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:76d6b9ca-b71d-4389-8c60-e0bd2cbe5b4d phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:29eafd66-57e8-4403-b38a-a15bcf178fea phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:bef6afb0-29ff-43c1-a45d-f4306baded70 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:31bf02c7-175c-40f2-86bf-e5014f6f4688 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:e52bcaed-3c0f-4aab-8df0-8d4656433df4 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:a0faa1b9-a998-497e-8c7b-290927656aa4 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:771561b2-6423-4d57-b0c0-2809cdd82967 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:a05b70d1-4639-4928-b9e9-efc28042036b phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0c687a69-37df-43f6-be98-01048e44241e phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:bda495ae-eaf1-44bc-b537-a1d95b49aea2 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:ddc5b159-74ea-409e-a427-cf8f663be3a1 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:8c330b69-ca0c-455c-ab00-7ce3865a07b0 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:6440194c-e6e2-45e4-9f90-7d3cff4f8528 phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:c3606a09-461b-4ae2-a96e-05ebf330837e phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:34c71939-ca4d-46ed-b2a8-319914cee182 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:82a345cf-cdd2-4da6-aa74-00daded835f5 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:f0af4c7b-a0d2-4ff6-8567-095c6de722ca phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:b6e54da5-b7ff-409d-aedb-d1f1d68c67d2 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0e632ba0-e46b-471b-acd1-5aa9c69e2cbd phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0004977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c00ec647-1125-44bc-8b35-7b5f5a4e664e phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:47f414e9-74d0-410e-a4a6-958b18b3769b phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:b93ea91c-4b55-4542-84af-439486b86e7a phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:3d1f1058-4713-4dab-8851-933db0088a1d phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:470bd48a-6890-4683-b2d9-f2bc92bea35e phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:d1b43f5b-6d58-41a4-9161-29d0299726c1 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:53be251c-fe9f-422a-9e8f-8795fdb781c7 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:cae697f6-88a9-4b68-8333-636849eafa86 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:fe11c713-c740-4cbb-88cc-63f1f72268ae phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:da8fdfb9-f823-4fd5-8d7b-f85847c714c9 phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:f7f0b174-b2b2-4085-8257-f7a2ba7b1a8b phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:5c0628ee-f191-4c84-97d1-4620f8ab6fa4 phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:7188ba4f-40bc-46fb-aca8-1f5108dbeda1 phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:b7cd3667-f653-453e-b429-848ed2cce06f phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:1bf02b0b-5608-41c0-a86e-a2b8069a0018 phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a97f1657-18cb-46d1-8e20-c291aa64354c phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c3c93e31-ab64-47d7-8299-1b42bc281396 phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:862ea02f-1200-42e2-88e5-fe75ee7917bd phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:b31be4e9-20fc-4ca7-82ae-72c61173424a phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:850740e7-9f05-4de2-8686-2a719acb84a2 phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f6deca78-35da-4895-ba08-5859af561962 phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:2bc14a55-4be0-48a3-9dde-387dc19d031b phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:cf500829-ddde-4277-8bf1-987821401925 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:67cf2d5f-cc53-4d34-adac-e5ce07ad8ed9 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a22c99e1-b19a-4ee7-ac22-ccc5a6d59378 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:868d0ae4-4a42-490c-82ea-24fc561dae11 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:3d63e395-a6da-4a4f-986e-ed1bafd27a43 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ab7b5c32-1e8f-48f0-8242-f486ef44a2c6 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:61951ddd-6bfd-493a-b298-31d794b2fcc4 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:669f0868-ceb9-4f75-8c15-ae97b4844d27 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:514790c7-535b-4546-8a6f-d8dbfcf24fd0 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:12c60c5b-176f-433c-97f9-bba6492cdfb9 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:08134d50-c245-4c09-9b62-c4568af511ea phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:80bc3661-67da-478c-9b67-c35c63131280 phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:595021f0-2503-40a6-8f11-9f43c879cbfe phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:78bcba1c-9a1c-4654-b045-ec0fd9b9d89c phenopacket.store:SF3B4.PMID_22541558_individual_K_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:8880786b-28ec-4e38-8f40-1c54b87eb6ac phenopacket.store:SF3B4.PMID_22541558_individual_K_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:c8c73a97-8181-416c-b2ff-b83340e78883 phenopacket.store:SF3B4.PMID_22541558_individual_K_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:75997886-81d9-4ef5-8e08-f26b59f4355d phenopacket.store:SF3B4.PMID_22541558_individual_K_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:e5702abb-54cb-4f48-a172-b68c76f427fc phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ad05041a-1b55-40bb-b91b-a491c613ff77 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:81201acf-67b0-4f05-8175-e3998a7ec294 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a228d620-8d63-4cfe-9698-5676b65fd7c9 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0cabcec8-6809-4c51-b870-3107d2c174cc phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2b52f98f-34bc-4d5b-8d75-c4d75f02adc1 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a140b295-70f1-465e-8072-855f1047c3ce phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:79aa4d8b-f334-42c1-abe3-d5b99ab36b71 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:d0cc37ed-1ba4-457e-8425-32d71c5f38a2 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:84cfa319-6e69-4faf-9757-b29b4ecd2257 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:07ec6d73-c927-4311-a8da-e74408cad479 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:6cfb0df2-6d34-4814-9165-9ace6f34e318 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:935592e9-b6db-43cb-96f7-067148b42bcb phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:58c6355c-57de-4259-843b-ab40c793147c phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:7877452e-e68b-4096-9b9b-e41385a5e866 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:3aaaaf87-af1f-4a09-95a2-a268ce7a1819 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:0b2e14b8-1f88-4130-b38a-10e67946c4f5 phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:f6f86904-e0e9-4527-8829-a321b5f3dab9 phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:258e4f67-1773-4791-a05c-4b8876732fec phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:77bee71d-79c1-44bc-83ec-0c7bb4b27cbd phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:5979d3ad-0412-4e88-80be-9ad87015afdd phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:5dc91692-6844-4152-bd87-91894a004294 phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:8898095d-38a6-4468-bf2f-d741c99f66d4 phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:9313caa1-0fb2-4b6e-bb90-4a72aff25fe7 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9a844eea-0332-4093-8717-b6754a46b4e6 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:50dcce30-559c-4a4f-b38b-b93b551843e0 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:6cf7f3da-3e57-4a1b-9ccf-33b3affc036e phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:bae6ae4c-eaea-49d4-8418-17a0404187db phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:be240423-565a-4048-a284-c52ce2c42637 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:41c77dec-bf4e-4939-b89c-fe9301b37a4d phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9a900c87-317e-42c6-b494-97c9ca5f1b7b phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0afb4516-b392-4f3d-92b0-5ea5c1a5a0aa phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:96f83fa2-d2f1-4f96-bc67-434433d674f8 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:e999457c-0c4f-44c4-9e9b-df9295f2b72e phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:2484a3d7-fdf1-4cb6-9d0f-f98e678e28dc phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:faeabc97-b733-46b0-abac-d90d469a5fea phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:5a4ee53a-09ad-4154-9f03-f9b318a3348d phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:951416d1-b211-4de4-9e77-4f7f52784fe3 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0b167138-28c7-4522-9764-253bd5b5262e phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:ec70d224-7763-4180-9af3-ab1e5b80d4f6 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:f20e893a-bbce-4c2d-ae24-ec1c352cf991 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_phenotype HP:0012478 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:2fe34694-a52d-4a0c-9d25-cb90f5de936f phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:4b1430a7-e2ca-4fb4-9d82-e5a8ed1993c6 phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:71275735-1111-4818-a580-6fa684731503 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:d5c8c610-3a9f-468f-a8f1-cf899bcd908c phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:25f80298-7439-47eb-a11b-ee3355be34f1 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0c434947-bc09-43e9-a345-7fbbb791c80b phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:d1a52403-604b-47d3-a857-b9fb9040594a phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:cb8bebfc-121c-4c10-b293-af7148154d26 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9e2a4177-2a42-4c5b-b58a-53ea47928d61 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ad7187e7-ffd8-47f1-a37a-68ec8dbc2bb4 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a765c0a8-8b7e-4b4b-bcf9-c7814885522d phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:e1703c42-4e46-43a1-b647-c38a082988de phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:8b8bb151-17cb-4b71-ac0d-aa2846e1d4d9 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:dda94b2e-62de-4e35-97ac-a7b9cf4482ca phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:07ff3697-7229-4565-8dbe-5fc94036b3c8 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:e757abc6-caf6-4504-a3cb-a3de5d49dad8 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:764c56a9-54dc-4e4f-9455-f75e90962791 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:b249c1e6-433f-4c1b-8cc4-0b8374370030 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:083e1a87-aee9-408d-94a5-e92fda1bf855 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:544f7ab9-e701-47e5-8792-f8e1b28ca172 phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:157968fb-1ae6-455c-b832-34c7050b3c9b phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:899282f2-339e-4808-88bc-7b57abc909a9 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:07c8de86-6198-4125-8a16-2db43a35c51e phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:7fc2b77d-794e-4833-ba52-ae5c3592917c phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:ee568500-0ad3-4239-975c-443b270b3e5c phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:66e9a7d2-79c7-4e77-8395-50bc3f60eda4 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:acf01de1-9e13-4ca7-ae3c-b986d0ff26ea phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:57258383-c4c0-4d3e-9c08-f465aa3f65c1 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:dc4b8f99-2bf0-4e31-b7e4-b585df6a1590 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:5abedc99-6683-4b5c-a38a-16c1e49c4bb7 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:cc72e56f-629c-4d19-bda7-0212430496f4 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:c834bac3-3502-408d-b2dd-a5331f0274be phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:307f83b2-4774-42f4-a7e8-caf881797e96 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:cc829303-7151-42ca-a897-bf923eb0655d phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:3397af41-8a04-40f7-b2b5-3af12d38ca24 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0012478 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:4a1138d4-f638-470e-b5c8-7dca7f80370a phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:51803384-b801-4845-b3d8-cc7b6e034e3e phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:48c1ca3a-26d8-4bd0-a850-b63e300c666c phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:17b727f4-3dbc-405f-828d-3d6c6eacb447 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:17eb5ab2-7f00-4abe-9c1a-3217baf46179 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:68730761-3cd3-434b-843b-8d6e63e492f5 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:adfcf41f-7643-45a6-8e6e-3e78d73a8323 phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:3ad51534-0c19-44f6-9718-8c264f2b50a5 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:7d614e26-a587-470b-8bc6-11d710b6a916 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:76ed3117-0ea5-43c4-92c5-14f5c1db450e phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:db5044c1-3441-4292-9258-a46a573b8b62 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:4317bf39-fe62-4643-bfb4-ca512743338f phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:9fff9f37-c5c3-4e1d-827c-f92d874e1a61 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0c23792f-fa7f-4694-8a3f-77199e441d51 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:8f2e9e03-23ec-44a8-8e1f-e29cd9ec279d phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:8209dff5-8964-4a38-825b-bd96c323f8ab phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:f9b8af45-003b-4e9f-8022-4d080e5352ad phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:e6b10389-c2a1-46c2-963e-c1900ee74ab5 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0007678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:1bb5733f-13d6-486b-8ed9-e3be672a87d7 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:4adc3180-860f-4b4b-adcd-9b27a3dff41e phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:3ac454c3-743f-4398-8fc0-be27e398d5d6 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:fad6c012-2740-43f2-ab93-8fd520ab6159 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:9766b236-5a65-4512-b6e8-625390eabc58 phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:3e565029-7e5a-4108-b1a4-fd81da489a5b phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:6121cf7e-0e2d-4263-8aa4-8f2733567bcf phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:707c8062-5739-405b-8704-30eb3c5ef926 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a500cff5-f8ff-411c-8ef9-87fa6f7c173e phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:dbd575bb-e1bc-44ce-88a8-55586459e2ad phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:40f9c8a8-c76a-482f-b8c6-d8cc7b6a455f phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:8df213fe-0464-4cdb-90ce-2d71297d0995 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:4f2d7a54-8b9b-4ad2-99b7-c6aa7c3b292d phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0001172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:a30ec0e8-18b4-46ee-91b1-21a149845132 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:d93dd284-5b6c-4934-a219-4638b9e4617c phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:1fdb417e-b3ae-4ce6-b87e-2758cc77d075 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:fae04266-5038-4cce-ae0a-6be8346d6732 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:dc05164f-ad89-41c8-8b6d-ed553643462b phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:0f630441-9943-49d0-9d09-da8bbf2c6b90 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:3cb1aef0-9b91-4a4f-9066-d09ca88a9df2 phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:8dc8e4b1-b169-40f0-a076-ca63c4b0a650 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:2fa0fa56-6b54-46eb-9af9-ea638b2b2ead phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:eddaa32b-08dc-4ce9-8aeb-2bd4f8f5cad6 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:1d3b2aab-c8f6-4911-a5b8-856f9b31e528 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:401b927a-6089-4dca-9da5-f424c6627e1e phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0007646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:be834b06-b696-4293-ad37-b990b7f39ffe phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:89010fae-751c-445e-acf5-be9e2826c141 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22541558 uuid:0176d747-4007-4381-aeba-3e1d816a80da phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:2bdadd91-20e4-4346-8a67-71a4e31f6edc phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:6e31bff0-7c1f-49a7-9f20-a4bccb871e75 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:d1e861cc-fb09-441f-a84b-e36783020d4f phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:a594133a-4c05-4992-a0b4-ba5aa8364180 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:5a521352-033b-4eab-9646-5aab7e3f8aeb phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0007776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:ecef8916-6b9a-44a3-aba4-afa4c28e4ac9 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:02d6286b-aa61-4132-857e-5b776d85fa8b phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22541558 uuid:6cd62c94-1e4f-4678-b498-9d08a28581bb phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_disease OMIM:154400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:902ec970-dd3e-4145-b353-6be55cadb281 phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:has_gene HGNC:10771 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22541558 uuid:daba1310-02f9-400b-b984-8779ca1ec2df phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0003565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:38609546 uuid:62c85e12-30bf-4426-ae84-9803aa50a218 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0001974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:38609546 uuid:8bc3a92f-48c0-40ab-9c8f-4b9e55d277dd phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:38609546 uuid:e9225277-db3f-4c68-a9c2-3226a17af8ab phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:38609546 uuid:4c2cb3ba-b673-4692-bee0-8bb384234395 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:1753836f-b8c2-44de-bba2-bb5169151fab phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:0c37f499-24c1-4ee1-813e-5a9396802514 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:fae8af49-dcc6-43a7-9c42-5e7a41e40fee phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:923b97b1-d9fe-4a03-a2c3-ed004e475d7b phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:0c2ee216-f07f-472d-ba98-f70f6bda61c8 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0011850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:8e2860f7-0fc6-4e43-b824-644cef97d2f1 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0006568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:2216f578-32d0-4a4e-af71-b1b8bbb90029 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:e9ec3f56-cf3b-4a8f-9e4f-f7769616caac phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0030057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:6b06d17a-d5e7-4e4a-bf6c-726496b927b1 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:763ddf1f-730f-4022-9f44-6196234df186 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_disease OMIM:620795 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:38609546 uuid:b3bfb1c6-5cf1-4c3a-bd69-0284dcab4dd4 phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:has_gene HGNC:25321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38609546 uuid:2ccd35ea-e636-4ed7-92cb-7dbecb459a48 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:d87b0a71-e0fb-402c-8af9-2e8da36dc3f3 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:13a41718-6c1e-44be-a059-07035df69ea8 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0002583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:137e7d5d-0cb3-4f5e-a533-3f2379ceb3d4 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:c0617ac0-89ca-43fa-9f17-fb54bc067486 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:6f254679-ebe1-45d8-af15-b6af7cd5fc7a phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0011850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:dbcdea12-1691-4f8a-adf3-884df1f3c5c8 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38609546 uuid:27622b32-aa7c-4caf-8360-2bbe6a99af2c phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0002573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:38609546 uuid:c590a550-e7ac-46c9-9b92-780c72bdeb09 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0006568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:38609546 uuid:5966408c-d994-4d07-a5d2-a0ccc8d3ba0d phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:38609546 uuid:86bb1c7c-234e-45f1-b31b-53ece7257a0c phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0030057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:6074d483-1fe3-4e36-8abf-c167d45ce601 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_phenotype HP:0410295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38609546 uuid:76b622ab-39b0-401e-8704-7f512330d979 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_disease OMIM:620795 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:38609546 uuid:aab4b526-0799-4d35-82bf-358344d14fd4 phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:has_gene HGNC:25321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38609546 uuid:cf45af41-1aec-43e9-9ed4-7b3fea1b1f03 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:87e0d189-1cec-4381-a120-6214b299065d phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:cefc04a3-b37a-4d2f-8510-55ab57b9d47d phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:1efb5f42-675f-43b6-965e-f5f5828fc446 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0410240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:bd463c67-2855-4087-bce8-90f64c7a2d62 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0410243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:8ed78d07-1fa7-4e12-a7a3-ec5ca22d9002 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:ec3adabf-b08a-4f71-b682-bd00773a25be phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:484bee12-9d07-4d63-8ab8-e2f97b3400b2 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:bd734f40-f422-4cf2-be89-efbfe939c1b9 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:74e68f46-6893-4210-b350-bdc982aec09d phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:e8e2dd34-3dc6-40c1-9107-3327e90a3d0b phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:602fcee4-4966-41d8-9bb2-f8451c5ba4dc phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0032247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:dfe802e7-eb15-4e72-8cce-f2b3c68a28db phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:a931cec5-0bfe-424c-b334-2e15bc3360c9 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_phenotype HP:0006515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:1742dcbb-d238-4719-8527-5625edefa4e1 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_disease OMIM:222470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28292286 uuid:d0990f89-5c4a-45df-ab29-172c542bd2c6 phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:has_gene HGNC:23639 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28292286 uuid:59d32511-8352-43be-97bc-6c51b8c88cde phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28292286 uuid:96aa8007-3f47-496e-9010-31494cb50af2 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28292286 uuid:e39d49a2-f5f5-419f-a4c3-a12da92a36a5 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0005585 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28292286 uuid:71f955de-9ab9-4068-99f6-5c8b834882be phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28292286 uuid:0f26fbfb-f57c-4cd7-8cb5-90a0a15bbff9 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28292286 uuid:a2a7a459-e2a2-4ece-98ce-3ad852d84c2d phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:28292286 uuid:b0fb71d9-5d61-427d-8094-97583e2a1a72 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0040218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28292286 uuid:ebafa5de-fb8d-410a-988b-cd6bae31582b phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:28292286 uuid:033bb91c-ab89-4822-8105-daec45d94f81 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0006579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:9d4ec1b4-8189-40c2-999d-cf17571fc938 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0032247 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:9c67c1ba-6340-4f11-822f-e28ac9431d91 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:55764fad-5abc-4761-99c0-f5820ccba6f7 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0001034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:0aad9721-df71-42cc-bfe7-54828ff1fcd9 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0006515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28292286 uuid:975eda87-2d81-4f13-a7b0-e3230dd30c8f phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:3cff1b7e-9ff4-4b7d-95f1-6360ec3948da phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0410240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:39d8751a-8f0c-4b43-91c9-a5cf8758e531 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0410243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:7974e1b8-8a28-4f5d-9462-e13fe405bd13 phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:eefe3b5e-6f37-4794-b770-0639d338d0af phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28292286 uuid:04d1bef2-3ba9-454f-bd55-0dc982d84a6f phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_disease OMIM:222470 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28292286 uuid:2abe8d34-f644-4e0a-891b-ac382aec2c3c phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:has_gene HGNC:23639 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28292286 uuid:4aa47d26-fed2-431e-b40f-88f7e0fda9e5 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:6ca93c0c-e4c5-47af-ba78-afc4bc36041e phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:0580f80c-16f2-41ad-96ff-302c56447595 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0031250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36745868 uuid:fd6073c7-83d8-47a2-b2db-266a34c056f6 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:36745868 uuid:b328b31f-6807-4697-86b1-df16828128ce phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:893cdc06-d2db-4222-a5cf-7e83cb87f232 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:c877934e-5bde-4d8a-97d6-085c0b4ad29a phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:66c2933c-2117-44ab-a70d-fe2afe712670 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:988f3ca4-699b-4c40-8bf6-0939a34e9ce7 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:71a06c91-38d7-43ae-b692-49ae3a0d22d5 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:a4ff64d4-7cb1-47cd-80cc-fd60e559b644 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:409918a1-8bd6-42e4-b064-b7f3b0852dae phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:53bf69f3-dfd6-41ab-855b-ea0e2944fbd4 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0032154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:6adc921d-d250-4246-9e1a-6f0a44d655ae phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:2f9c6130-587f-4240-a45c-966cefe356e3 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:b0e7902f-08af-4727-af08-9811abe33f7f phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:c88e04ef-f0b4-4579-86f3-4cf35d1aaaa3 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:0f246dbd-9a8f-47f0-95a8-b4a95caabccd phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0200042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:4d8693f5-d1ee-4559-b258-293b9a8ed3a3 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:e4c4d09b-9356-46d1-81f4-7bd3c1c95a64 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:31201c9e-0a62-475c-99ed-31ebc0458e25 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:34ca472c-f574-4fa1-989f-60b634caa774 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:a2c77eba-094a-4653-8c1d-c9fce9124bbe phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:c23a4640-593f-4d1a-bb17-e1438783512f phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_disease OMIM:620603 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36745868 uuid:f7adacb1-fc67-45c0-8e0d-4874549f8816 phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:has_gene HGNC:10937 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745868 uuid:851dff81-86cc-41f6-83d2-c4ef76427aab phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:b6801bb9-72bc-49fd-8bd4-d58f0850008c phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:f7207a12-2d19-400f-a697-64522cad2951 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0200042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:8cd18b4d-0004-4319-b36c-fa6052621629 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:90491c9f-3030-4d48-9bf1-b9fb46a06e30 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:c77b5895-dd0a-4bba-9842-5a876e8e93ad phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0032154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:009018e5-9ad1-4d87-a362-ce279915b9a3 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0001980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:4405ea85-3058-4d8e-b0dd-c104a28b2ac2 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:2c97298f-26ff-4eb6-9023-30cd69b54114 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:74e53e74-da6b-422e-87aa-19b7bf3ae542 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0003281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:b52fae00-9895-4230-a69a-babcc253557b phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0011900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:b6ba95b4-d014-43df-b54b-8fe0a8060027 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:46581938-92a8-46e0-be09-4bcfe0f3eeef phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:31d870bb-5f99-4260-ae9d-8bcdbd6eb991 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:0ecbbeea-ab45-4683-8bc2-3baf2e032c88 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_phenotype HP:0040087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:38028be1-1519-4edf-a1de-186df32b447f phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_disease OMIM:620603 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36517554 uuid:d356d197-246a-49ed-aeaa-bc1ac9674c49 phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:has_gene HGNC:10937 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36517554 uuid:72b2ae86-091c-41d9-8cd2-e98b2c6047eb phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:c89a343d-0318-42af-8084-72897371ce89 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:d04e8e0c-b7c3-41ec-9702-570c110980a9 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:7ae149d5-ee12-487b-bbd4-7f33d9ae7b84 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0031250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:368860aa-aea1-48a7-9870-cd619f418813 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:e6471d7a-a7d3-432e-af4b-53e10cbbab59 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:da36a7e0-6fad-46bd-8edb-e06c48919088 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:8adb7103-8caa-4851-bc68-5aeced53bf80 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:0a6161ad-20c6-4ed5-99c5-bb568396f906 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:46f2c1bc-4000-4996-a34e-57e972f5c803 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:ad47000b-72e5-4a2f-a1b4-269a3beb0dcd phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:718dd33a-f60f-468e-9616-4be75d67ab97 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:a88a76c6-bd12-4b6a-b51b-c83e7df839ca phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0032154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:9052ac74-cd32-479d-9a59-5f248db632e2 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0004315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:d9e2995a-31d5-4839-ad70-e26176b7fe46 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:c4df2537-85e6-4f40-8070-fb454733e068 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0003212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36745868 uuid:19d065c3-cdfc-439e-9b6f-d6d7af5bba52 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:1a5fd6ef-e3c7-4990-bc15-7030cff2fc13 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:763443f6-6989-44b9-bf86-3c235e339c28 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0200042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:bac24669-9135-492a-9882-43ee7860ede8 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002514 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:93cffb82-625a-41bf-bd2e-a89b2420315f phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:57f1a452-e75d-4857-bc7e-ac91dceedfb8 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:a8500a15-f4a2-4b9c-b347-4dd3adb212b9 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:43f417f9-3695-41bc-a6a7-1b9b437d90ac phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36745868 uuid:119b7534-90c5-4f23-8d32-e11fae1834b1 phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_disease OMIM:620603 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36745868 uuid:214ea8d1-7b06-4a7c-96ee-62f7ee277f2f phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:has_gene HGNC:10937 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36745868 uuid:0b7e2a4a-3359-43c6-b00d-61b109147afb phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:20d8e9f8-2f3f-4498-8e57-b8c6ee70be70 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0200042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:34a72a65-9b63-4d53-a5ef-8c77628556ef phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:50e43863-6ebe-4cbe-b4e5-b8819858bd50 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:1644c270-09a1-40a5-a17d-7f8e1fd14546 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:e5b7358b-6b03-4e29-ac5d-0556ce4b22f2 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:4de40ed4-6aef-4afa-ae65-4116271e6075 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:20db667d-e4eb-45d6-8e17-3262b00e62bc phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0032154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36517554 uuid:7c1255cd-3c8c-479f-b8fd-de657b70ffb8 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:c6647706-b6d2-49d0-ba82-45b5e406ac9f phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:c6b8758e-2c02-4d6b-a0f9-70ff7ccc8914 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_phenotype HP:0040087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36517554 uuid:f5a96318-d82f-4e5f-954e-792a036353d3 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_disease OMIM:620603 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:36517554 uuid:9a34a757-f712-4c05-b0e1-5e67e5f99db1 phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:has_gene HGNC:10937 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36517554 uuid:ba8d70a0-868b-4fac-be3f-500262d44430 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:0a8f0aee-4635-4817-9190-84afaf1db32d phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4bc2bb69-91bf-4e1a-84b7-c8f22905f626 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8beaed0a-ea1d-4179-94b0-2c57d7a914fa phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1fa17e85-2afd-4d98-9c82-3681bbc733c6 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d5174591-5e80-4f8b-b38f-c848c1803d9d phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:bd4e85bb-7760-453d-9a54-9845c7bb315a phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c8fba0e8-0830-4480-afdc-a55005866700 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:441f93af-2c54-4660-9fbb-7cbb98bfe98b phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:9b1c045b-ec37-4084-9aab-71218fea9759 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:6ec0e062-c09d-4b7d-8bb9-2e2fcfe94029 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:ac24c8c2-2e8e-4115-add6-9675f0ee0f0c phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3ccedc42-c938-4270-8553-622706f59725 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1cf73d52-d7c2-42a2-a27a-40ce0eec9886 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3e48304e-e7e5-4d5c-b6db-1e016b64c56a phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:45032b61-521e-4b67-856c-01a53fc50bdd phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2254e578-20ed-4980-b116-150a96bc2921 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3cf72596-9d3f-465f-bcac-0210223adfcc phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:c1bbee9f-bb31-4a13-b147-34f9ba1f68ae phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:ec346f29-0c65-4dec-b3b8-bd14eec5ba2d phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:2b355e2f-8b09-45e5-ba01-ac4706697c18 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:6af5de30-7a88-4031-9bb2-0a2e7fe359ca phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:43ba64d1-cd05-4f27-9c5a-c83aac517c40 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:af35c7ff-affa-422d-936b-1e043214f40a phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:de01705b-6b53-4f89-8096-52b39a1635e2 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:79f0c571-fcc6-4886-869f-7ebea2d723bd phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4ab835b6-6b7a-438f-b377-568e350ae25e phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:33ff28d9-ca37-4ba6-8c02-feeb307703d2 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:edef4d67-fb36-4c04-b732-739f7e34db01 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:c4ace5d9-28f0-4433-8711-0007f2527bd4 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c7259ecc-ea05-4fa2-83a4-2c4e19bc5c16 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:bf07bd0c-6e4f-47b3-a58a-4571fda9a0b2 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8113198d-c2be-4171-854e-d99196e9aa31 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:53396cc8-7e38-425b-879d-9d6e6a22eb12 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:5cbaea68-bc73-4245-98b1-aa5437f87239 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:bdcbacfe-4135-47d3-af8d-7484474fcbf6 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:14e24c47-878d-4bb8-89f0-ea8b0702f1e9 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:0b95c482-3ffe-4572-93bb-d90151ff67f6 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:86f06bfd-b15a-4e02-a143-32791d89d485 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:106ef203-db59-4fda-9a88-b2da2402cf96 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:fc1dae8f-b85c-4c4f-b710-bf6830567a03 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:34d17bc8-171a-41f0-8856-1b3c5834f5d3 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c4a28bff-0198-4869-bf32-e1b646a7e731 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:7d4e75ba-a67d-41f6-807c-d177070f8f78 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:7458bc48-8d9d-4d4b-af05-a9b6d9b158c7 phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:df2b0187-cbf5-4a93-9e59-d2dc098c16a4 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:36073542 uuid:a1b66067-254a-4eab-91b3-911b5d8e9c18 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:36073542 uuid:664cd6ca-c862-4837-a64d-d84638f7eb52 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:a00b4dd9-eb32-4736-93e9-17b3af2ae9ac phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:063893e6-ba8b-44af-a207-9683bb8706c4 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:7fd427e8-cadd-49fb-9c15-53082c0c7ee9 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:4fb1c970-b03c-42b3-840a-1b3536e43467 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:d0100197-50d6-4714-8495-3f9ecb27d03e phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:1e3f2d65-8a23-4d2f-8d76-5f428072daf8 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:2151639e-4e75-4d1c-887a-9b030caa8478 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:aea991c4-eaad-4c19-a06e-620299827486 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:07803fbd-59d3-42f3-8684-f98378bf4849 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:3befa506-fee0-47d4-ae43-52309b6cc85a phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:efe44e87-9f29-44ad-ac61-e791d1e39b59 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:541129c9-02c5-4225-98e8-635aa944309d phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:97e83ff6-8f8e-44ca-bb06-309a7ba32219 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:bd609807-edcb-438c-9090-329b24677772 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:fa3e81ed-9e19-4f3a-8dc7-f622c0fafbb8 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:95bce4ba-ea0a-4b79-a6a4-bf50f832349d phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:d62282d1-d953-462b-90b3-380ef7fb78f8 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:12ad1136-afeb-4d81-8a13-c6da67a2479e phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:10d6f54e-a7aa-4f95-96f8-6ed718db014f phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:7ddd1ae7-1836-4cdb-880f-49093a9cdf67 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:fc420c8a-ab3e-41e0-8cd8-e348047028ad phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0010721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:b3d72bbf-897f-4ae9-b9e5-f7f086e2fafc phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:886988d1-bb53-4db9-a3fe-8975c2493a6a phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:d1bd0c48-4d64-48e2-8ee2-c07dd9a2230e phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:9094dbee-1e28-4785-ad3b-367e0c3741ab phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0008523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:eb076e85-2b56-43e4-adef-72e60cc7127c phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:3edd72b3-eed0-4804-a252-71a9d6b88182 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:a50fd0c0-7f2a-4aae-877c-a2a5f2670931 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:a473d17e-ed29-416a-a3e3-9068cf2e6510 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:1a1e14d5-1a14-422e-a701-ced1bbf4e63e phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:245de80b-8771-44b0-a20a-a96a35c62817 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:b6bbaa72-9f52-4734-a9bc-ddc96d4c4af8 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:1bd3cb21-d0f4-478b-9824-d161eadab63a phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:f4d8a295-9570-4d1d-ba58-9cb4686989b1 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_disease OMIM:620774 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:36073542 uuid:b259c81f-174d-415f-9edc-164f0bcca8f9 phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36073542 uuid:b809fa72-5931-4885-a8b6-a245d4a7a67b phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:830fcb4e-fe7e-40f5-b72b-42b2b67eec68 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:86000bf5-c40c-43a1-b346-26de6e5e15a1 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:1f9382d0-436a-478b-89ee-c5961bccf6d7 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8ec30cb1-fb50-4c3d-99d4-4cacc389a9ab phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:86e4df5a-bca0-4427-bf3f-b56c6c83e9f1 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d0f6131e-feda-45fc-a072-2bae6045bfb2 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:f45e6e27-445e-4730-bfef-e241292b7b9b phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ce76d5bd-0740-4717-aea5-8d2d3c3d5f68 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:18e15b6e-7a6a-41e2-883f-82dc5cfd8dc3 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:fe1181a3-b0ab-4398-b34e-2f0b59838d47 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:518dc1c3-0018-4996-957d-f59e9e899a52 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:14ab2fdd-4cdd-42df-babf-2e406e701415 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:25a6a381-408c-4b91-9598-3f4054fd023d phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4e296f98-0863-467c-a4ff-d8c11d76d8d4 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ec31728e-4f9b-468d-a9c4-d5130f544644 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d02548ef-78cd-400b-ab64-128ceabab5da phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e867f2bf-78cd-4df1-86b0-ac3249f9349b phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8000b60b-1a23-48ad-8141-f6bde041c02c phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:a3f6c68e-81e5-43c0-8dcd-c6404004d2ed phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:d3b67522-7ab9-41b2-987f-e2de257d33b3 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:370570b4-fef5-4636-a042-0c61bdf48d9f phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ca711e23-c809-4912-9aba-e82793d7e4af phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:6074b7b7-165d-4685-ab6e-a7faaa83e2cc phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:7db35bfc-b00c-491d-b5bd-ea9909577ded phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:072993b4-f7ad-47d4-8073-6ff2c5f5ef28 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:06b9996b-7bec-40d8-9411-c8c55881a270 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4a035a7c-55a7-4e47-a2e2-23f9ced6f0e4 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:88dcd743-69a2-41d0-a9ff-29cee71d0d2d phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:1c87bc5f-b235-4a6f-879a-5f7a1f149018 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:772cf0a5-6e26-4ade-8837-652ee8eb69e3 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:99753c11-c1d9-4c71-9cd5-b3cafecec2f3 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e1bd6d5f-fd58-46d1-83d2-24fa84e3323d phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8928a208-5bf4-42d3-82ca-f686f4341f32 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:acaf7946-271d-4535-8299-546d8e4e0d16 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3ab5d54e-a794-43dc-aafe-e0730474dc01 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:18ba6801-6c75-4e0f-8ae5-a8d94d59d1a9 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:7cfa6401-c058-457e-813f-a5d7917bd54f phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:22d58a2c-810b-45aa-a30c-a78eb90fcdcc phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36073542 uuid:b6e4467a-2e28-41ee-a626-30f038b8ac65 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:d04f149e-683b-499d-9012-522946374693 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:feb76ec7-e3d7-469a-be7e-5d28482f0527 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:6ab32e92-4c5a-4f30-a3e8-cfc991901422 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:c2d05952-cd7e-41cc-8340-45d1b5e79dfc phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:4324b173-d308-4c9e-ab8f-abd49f8098d3 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:d7bec7e2-4337-4a1b-98a2-851231e3a52e phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:1e6cbd37-a1ca-4e79-ac2f-50d7260a0d2b phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:98a0068f-01c5-4318-bf7c-f06db52f08b7 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:916280ad-19ad-4caa-9b83-fea5fcd39621 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:91e4a5c7-5152-4aea-a34c-ce0315a22999 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:ad08e617-5e1f-499b-b1a8-4a145c1d2d31 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:78986b5c-9b57-4d1f-b840-d130a457154a phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:4c44389b-27e5-4ec2-a3c3-ab7529ea1733 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:d6f9edf1-c2a5-4377-b413-e3e1adac6625 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:7467cdc0-369d-4ad5-b406-0e2941525199 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:2edd4584-5110-4f0d-8b1a-fa7adfda2edb phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:3e083ece-057b-47b6-8dbd-665836126fd2 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:3f9848f0-a780-4174-b6ad-c94297303180 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:400387aa-fc11-4263-b619-8f4418b5acc1 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:4b368db1-a013-4c08-80db-6ec10081d1cf phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:e5a52c63-d431-44c2-82f8-6e39f99af985 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0010721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:8f1c81a6-7b3e-433a-a75e-1e43c5906512 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:c8fbe45c-9c21-4c5a-a42a-02351eb17f3b phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:b2b3796f-1dc0-491e-8580-2ac04e361c83 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:9cb0659e-8723-4167-90d1-6c2327c219b1 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0008523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:031c9989-0e1a-4e4a-80ef-8bdce9c5bf74 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:92a03e8e-8204-4ebe-97a6-5dfdd1edc8e2 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:345060ec-5c00-4f52-ae45-f9a192a736a3 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:64fe08b7-d2a3-4a69-9df7-32143da43080 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:bb3a009e-c057-4e8c-92fd-557b8e72ffd2 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:39d95e4d-aa8d-4c59-b29b-7580cd5111d3 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:7553f07e-c18f-4d85-915d-8593a33fae81 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:a4c5c762-2689-472b-a090-679ce57d84bd phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:de7b165a-6654-4604-92b8-9fe11f25ef02 phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_disease OMIM:620774 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36073542 uuid:5ae43f0a-9965-4052-bde1-d7b324968deb phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36073542 uuid:b2ae4ede-0c47-4f0c-8d99-c923f89e979f phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:0265568b-dc39-4279-ace5-13eabbec2fa5 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:f3cb7fcf-c70e-4d85-86aa-df977d6a6880 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2b772333-0e9a-418d-bb10-8ad28a8dc293 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:30c12c3b-c9e5-4a0a-867e-395fa1910ad6 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8155ca7a-4412-47b7-8be1-ecd0759d424c phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:b3754b74-4ff8-416d-88dc-4b58b831e4c6 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c138b05e-006d-460b-9831-6039d0a8ba5b phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:1cd8d6ce-bad4-4c3e-86d8-a4f7f1d769e5 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:6500c391-8f35-458b-aa11-12f169a3a856 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:c56c0479-e2fd-4ef8-a1e9-a03e8f413fd6 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:9b6e7be0-b768-4d92-8e9b-a2d246f8ce6c phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:a9faf6c8-4cba-4b64-b53e-7b9710f92a2a phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:f91e9ba1-d336-48e8-9f28-717561c15d85 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:363f7ab2-a536-481a-aee8-082613a81fd4 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:135923bf-27ba-47dd-be54-515491dc4e1c phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0861dca2-f799-405c-8249-036389c79276 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:acec6cb9-9d71-4f5c-a8e7-0f67673d4bfb phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:bd71ab0a-6670-4762-92f9-f420b14b7ebd phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:b1f8fb7b-58ad-4949-bfe8-8b31bf658456 phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:0f57224c-ad07-4815-be2e-add49bcfaac6 phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e5b13e0a-9c18-4447-8224-efa066b22971 phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:58e8df80-fa8e-43da-9c72-ca9be03c912b phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:5dbc1fe2-983d-48a4-8afa-6a4344972648 phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:515c1171-12f3-423b-8bf0-088969e81bbb phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:61d60b5b-921b-4ccb-9eeb-c995878b6b7d phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:125750d5-b2d1-4b33-9801-e036dcc26693 phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:7c7b177b-3420-4a58-b2fd-ba13e50a6aad phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:eabde649-537a-4754-b2a1-8d7d1bd8ae41 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:6b516710-06f7-4647-bc79-ba837acf24c7 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:d52c125c-a2dc-408f-ab4c-29e19c363dbb phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:69f74e63-5ab1-4d8b-946a-17f7e7401352 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:27e98d50-b879-4238-b382-3d0232970bbb phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4d9b931e-bcfd-4510-8f83-2cb5080c022a phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8e44eac6-0f54-45d1-999e-dca1455773a0 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:9de37c06-615f-4ccb-a3ff-774f3313bc25 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:05f7e1d2-f903-4a6a-afad-2f3626282855 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:1e138647-60c1-43f2-9d35-b71573929071 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:63ece546-7865-4ccc-ab51-ff4f7a227e6b phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:839b4e54-44ab-41f3-9ef8-ba7ff1fb92c6 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:bee6ce4d-4267-4b96-8fa8-6e76c784ef42 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:bca23e6e-9ee4-4b46-b62f-770135d8994c phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2143f332-0a84-45c2-97bb-2d0bf8074b45 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:f293397b-8f38-4fc3-a6e1-2b8760c56559 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d4db83a8-5828-4f97-8ff6-aaec1bc8ac44 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:4166fea9-d666-4508-b4bf-6a49ae6a6cba phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:3d8b9210-3866-4747-aaab-82e07d6ed6e8 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:0a795bc0-4cdc-46d3-aa78-34fa10299014 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:a66f7b83-e629-44f5-a2dc-befe543432e2 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:861e89ac-9688-49ab-83ae-d7aa7e053575 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:343f0502-03ba-450f-b44f-538299eff76b phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:30bbe8e4-af3d-4887-b150-61b8448db44f phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8ae98034-2f37-4c44-a049-7c338306bf29 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8f492964-fde2-4916-a9c4-33947d1fa354 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:98ec64a9-e157-4864-935e-24a459ef3c88 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:fd473ec1-ce03-4695-a6de-71e2ef6af0b4 phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:77985004-428e-4901-bd76-4c1085951ffb phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:34d1f69c-283d-4bf3-9da8-62be99c6cb95 phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c6be34e3-d6cf-4972-8fda-eba43571e256 phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8a58ca5e-9730-4537-97a7-90245d2d8822 phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ed595b88-830f-40d2-a986-1cbcd24e294f phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:51de4524-94f8-4eba-b502-bc12762acf4a phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ec61dbbe-695b-4032-b2a4-2496124fe6cb phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d99b47af-ee24-44c0-aa4e-b8f729baed8c phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:56a7ecaa-6fe5-43e8-b947-2de4ecd0a1ff phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:d7fac4b2-52da-41ce-b6fc-f5933f1d0a0e phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:36073542 uuid:b049d887-cae1-4370-a45d-829e26ef1650 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36073542 uuid:0a796790-8666-4253-997b-d61da8cfa063 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36073542 uuid:6f06857a-99b6-47c4-83d6-474fd978f313 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36073542 uuid:ac638846-2715-4a48-9e96-6b06835f1e28 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:ee0af8f7-1c17-404b-8f5d-3ffd71e0a693 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:882acc8a-dc38-4859-a71c-b540a01d53a0 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:a6de83be-94e6-4fa4-bd25-20de748ae378 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:59c7f270-2c5c-40c7-aaa5-8c5a23942ddc phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:8e140282-c677-4260-b027-8e38a45ec827 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:8ab1c17c-b725-4f71-8f9f-0220583d9838 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:d0ce775c-9462-4eed-972c-75930b495847 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:46ff3a2d-d9a1-43a9-9a00-be57d717654f phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:ffa8c775-50dc-4de0-a4be-0f77241db23b phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:38be51ea-5b75-45a5-ab53-f6ca95db80a2 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:2dce3d50-2aaf-4989-88e5-017acc8c3e54 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:e857da4f-671c-450b-82fd-67d926e80abe phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:6266d4a1-061d-45e0-94f0-e0e933cace8e phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:18dc4ce4-bc8a-47e5-8152-e42e7a078bbf phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:ee2f5a44-d501-4035-b225-71ce48a186d9 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:2c1606ba-be11-49f3-b97e-d6ea5ec0de6b phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:5b89641b-2036-47fe-a916-0a530f0fa6e4 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:4b92df6b-8f7b-46d3-828c-4e655ccbce8e phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:d78901a7-1efb-489f-9105-ffef87f56a80 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:7d057e8f-0566-470f-b31d-f2cdc46a8af9 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:8b696ab8-f118-47bb-be3f-145be2688eca phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:c69b82d1-4e8a-4b96-adcb-4e4a78fc9bd9 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0010721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:1809d933-edad-456b-96f5-d5fe3c6dc9f1 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:64b42e2c-1471-4601-a172-8925342433c8 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:2bd6f20c-0759-4dfd-8595-d3331b4892f1 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:3c4fa5d6-6e82-4d11-acd9-f20482549696 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0008523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:bd2f8e37-7489-4e37-aefa-bf0fca42261b phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:212a0500-1080-450b-81cd-0639d554f07f phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:5dedfb35-acea-4cd5-9fc2-38b22f9f97fd phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:08e87d5f-7dc4-4e6d-8372-6deab00098de phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:97eb785e-070a-4701-b60b-43fa5c05cf21 phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_disease OMIM:620774 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:36073542 uuid:9aa3813b-6860-461e-927d-8c915eeecc6a phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36073542 uuid:63914877-95a2-40d8-a8cf-4ddc5a990519 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:3f7761ee-9f56-458c-b81d-f11fcdac33a8 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:149d6c04-d292-4c65-bf6a-d48336849b07 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:63bb1825-f739-466e-8a0a-a1d247e25929 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8a09d636-f664-4434-8de4-9563ae5c9a5e phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:a53f7e66-b548-4d12-b45e-85c907146c22 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:88b8bb91-6f97-48bf-855f-5651c3c171ea phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:26bdc9e9-d3e3-4582-bd1f-bf4828c6ac29 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:ec1d4b41-0608-4703-96a6-3d871d0ae165 phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:0f405cba-a6db-44a7-bc43-8f0a9edda403 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:2916416f-4418-44bc-b268-e4aa8e1dcfdf phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:58f66264-6158-4d66-8c7b-237cfcbc9117 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:169f1cf4-b8de-4a01-8010-a5b1d05cceb6 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:b5cd4725-b19d-4d79-8876-28fa8ba56fcf phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0f44595c-b960-42ae-bb1d-8a10cf469d03 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e7c5982e-3682-48c9-bc34-f0df3462978a phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:faac7e8d-faa0-43df-b11d-18a0c48d2575 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:88f3645b-a440-436a-9912-97e47de4574b phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:9d9fb924-e83b-4710-b937-a7d6a50713a5 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:d9e067f6-2a28-4ee6-b8a7-ebd7a3a936fc phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:36073542 uuid:65b2867b-eaf5-4fd4-ac30-ec1384015015 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:4da67aec-1fcf-4891-8f48-f192cadd4cc4 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:08eef698-4762-4e74-b2fb-8eb8bc9a2bcc phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:8c473b00-db06-47e9-b5bd-bb085c53528c phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:a5a711c5-38c5-4c7f-a6b7-1772638ee46d phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:599e470a-b4ce-4e77-9b26-8db3a0a13fec phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:96de7340-116a-4570-8207-ce8dfd423098 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:9ee6c9e0-1989-492e-9b03-1890dd9268ea phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:76269651-1993-4c66-81de-d22bf324744f phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:2faac985-fe7f-44b9-9e97-dbbc69cf75c5 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:fcc6c002-2a07-4a8f-a30f-2cf29dfdef8e phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:37d85c5f-8b66-4e26-bfbd-88235ba63162 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:e517a909-a08a-4a10-b2cc-a7ea90732ead phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:bc864a27-4daf-4143-b308-4f21c2a42461 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0010721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:daf3f1f3-7cf6-41b1-b415-b03a93e15b33 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:ab221aeb-513f-49d2-a298-af02b18731ec phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:cafb24fb-c8a3-43c3-9db6-fc253602b5d4 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:5d7b7116-66a0-4c8b-8a7a-64b9b6ca7a37 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0008523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:90949df2-61c8-4344-8eea-f100f1082f18 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:e55aed5a-8559-42b7-b637-dc7f7f8b72d6 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:c21e0994-b2e8-4348-9a54-ba2cd38db0f3 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:4951e328-cd36-4cf2-8b4e-941ffdda1ced phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36073542 uuid:00d0988c-a9c6-43a3-9133-8fc2263eda73 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:2f5cc9ef-3d04-4c20-b0bb-89892a576566 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:73edbde5-5222-4a95-83c2-58aeda3328ad phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:4c6c74b7-89af-4ec4-9fde-92d357e8cbd7 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:4c06f285-17ef-4108-b6cc-964094278593 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:5509fada-968e-4b3e-a1b0-2a2b32d9b9ff phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:374b1cbb-c8ce-488d-b2ed-7f3dcd745291 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:c4704d99-fc9a-40f2-af82-d77fc53bd855 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:d841279e-192a-447f-ba15-8509c638f692 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:1bad968c-50b0-4509-947f-49109a96fbf4 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:3cb4f3fd-8a04-43cc-b514-280214df9b3b phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:45ef847a-3c1a-497a-8dd4-89f3290cf6f0 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:b640818c-4d25-42b3-a373-1f9f56f723d3 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36073542 uuid:ec0f0d2e-ac5f-449f-8997-d9a5d94dd617 phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_disease OMIM:620774 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:36073542 uuid:b8e64cd8-8cf8-490d-9c5c-a5bd74cef6fa phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36073542 uuid:737c75e5-fc5a-494b-808d-4cde6820f574 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:496594ba-0a99-4dcb-add8-ba52aec60517 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:96c2848a-23f8-4376-a228-94c4efb34edc phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:43bbcc9e-3393-4c77-bf6e-66a839885180 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:57029c25-0ed7-4a6e-b041-080f23b850dc phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:af7fa6fd-3988-458c-be66-48c70cf0d479 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:47c453d1-234b-4ab6-a323-8b11a6756fc5 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:25b70133-8f9f-4839-a599-afcbdfd3d51a phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:c92f1ad7-6ff8-4d09-abfd-0a56d4901b87 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:2165dfe0-d676-47f9-8ee6-1b25afd50b56 phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:6ceb9583-931a-4b3e-aaf8-20e2e86272dd phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:ccdb1a55-9233-4f51-a64b-0b9bb2ca8a7c phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:16d7e7cb-9921-4c10-b248-1a8ab2009528 phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:acca1e4f-388d-4e17-b05b-bbd6ed88cfab phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:5f833cbb-779c-4b69-baff-3057a4f51020 phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e1a2ee0a-a482-442d-8636-7bedcee9802b phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8d6396a1-f213-4036-8ae4-1bba4bf5c7a8 phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ec23c001-bf33-422e-84e7-3586cbd45c37 phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:bd6fb1c9-b783-40a6-ac01-262de65f060f phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:aa859967-660a-438e-8bff-129e0eb443e2 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:a5299de1-17ac-4e82-9676-4ca1e384fcf1 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:191c5fba-d3aa-4b4d-a6d0-0a6677689b27 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:d597d88c-ad2e-4762-ba24-52d14078d9bd phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:f02fabeb-c337-4f8a-9a8c-e095bfe36ec9 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:30d94f96-ccd7-40ee-a873-c5b8bc66f7ea phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0aef3eca-9f0b-422e-9c13-0e99031e92fe phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:f144e458-f05b-4628-a8f2-d16fe33487f6 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3d8b675b-8a0c-4bd8-8278-3f55b0e631da phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:6dafbe6a-2d97-4135-899d-c6a2e8c2f337 phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:a5194eef-381b-496a-9963-f923c4ed05c9 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:fcb4b04c-1632-4cdc-b0f3-30e6c65b533b phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:d9788f3d-cbe4-4007-b494-6ef26c061a5f phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:b7991bb3-7a7d-4e72-bb18-7e571aab20a7 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:60eeee80-0ab9-4c18-8460-d7d9b654e4a3 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c9f3e263-5d8f-4fff-8d6b-3e59415d04d4 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ebfd5fec-cce9-430f-a2f0-1fd8f5403d11 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:538f8475-022b-41f8-b3a3-865f7a9058ba phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e74166e4-fb7a-4d45-a2eb-162fa34638f7 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:bd227c0c-2157-4de0-aa1a-f7b935481aa3 phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:498049ed-2264-4e34-b909-b74425a2099b phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:aae87499-0eb9-435c-882d-42d970a744d0 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ec4287f3-ed4e-4069-932b-355d8083e2f5 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:6c48b51a-defe-4cf4-987c-669231ce5ba7 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0e5c0dbe-13ac-46ee-a948-e8734e2a093b phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:488987b5-802e-4891-a4e3-d8c7a58a6df1 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:db455cd2-a81c-46f8-8954-30c2d54fe8ee phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4de20add-66a3-4b9b-8e45-e60837dab4ac phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:9c7e93ff-2699-492c-9254-57ecd1dc3e87 phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:1239f4e8-7b16-4c1f-b3e4-c3a998b9b00d phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:3c5f467a-d9e7-4ebc-be99-3d57281595ce phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:dc819996-d825-4704-9260-fe3eaf23bdcc phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:a3d8f223-644b-4ed0-817e-3565f286fc86 phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:831c85c2-e5f2-4287-af9c-0105d0d4452b phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1ae929b2-eaef-4509-8a1c-b8fbf48305bb phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2f4702c3-9d4b-47ff-977a-8b053ce02dd0 phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:b5ccdd67-2cce-4121-b174-73971a7010d3 phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:29a6738b-f58f-42d4-99d3-6a1f4af573e0 phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:dfa85996-942b-4b92-b3a3-655a89b98f12 phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:624e6328-7330-4d87-868e-cafdd567b320 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8a67abb2-ed6b-44c7-b891-cb3a368bdc16 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:24e19233-b784-4e33-9b17-b0b17f54ab07 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d5bcc7dc-bc30-4f8e-880c-520407f7f8c0 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4699f4f7-b8be-47d6-8996-c4ff2f8373cc phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:53b2406e-993a-494b-9c65-3042e2d6b4c7 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3a12fe41-4f75-412b-9b4d-3627659826a1 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d6350473-b197-46db-ae81-541509bdf2f4 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:a8aff595-6a1c-4c70-9c04-27395190d4c3 phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:2a0c510d-eba9-4936-bf80-274a32bbd38c phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:0745a013-582f-4435-aabe-75cfbdeaeaa0 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:22150a5a-8d4c-4128-9259-7b3c3dc66adc phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ab1a2a11-2f89-4773-a58c-b9047a1ca3b6 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:55c73e45-e7dd-49d8-a58e-6a485d4f1d66 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2fc19b5e-5c38-47d2-a7bb-55f11fe38da1 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2e28f195-dbe7-4353-8f49-921d2f608db0 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0975f25a-4cf0-4be2-9671-e110373af539 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:d4cf1b8c-5320-49eb-bbdb-333a1bc21618 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:9cf71782-4f52-4448-84a3-aa16e7ddbdf8 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:5c09c172-2b90-4a54-be7e-6e6b66b547de phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:35032c86-62e0-4ae2-841c-f61be3c2b0e6 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c978ec34-8219-4f93-8d6f-6efc036da110 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:a49a1376-8d62-43da-bf11-86c5854ade58 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0f7641b3-14be-42be-85e2-9510359e275d phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1b58d75b-16f4-4eaa-81b2-3d3bdf81a175 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:9e8a7bf2-26ec-4f69-8ad0-48f9e5fed5fb phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:89a3e9e7-01f3-4c1a-92e3-ccf28057c4b8 phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:618f8515-d3cf-49f8-b142-d0da7d3d347b phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:59df8799-a2d5-4633-9832-f1687e1b6984 phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1ed832aa-3f33-4841-9086-4a990a1d0524 phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:93701e15-973d-4774-bbb8-2a63e03daba9 phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e7a351d7-ca8b-40f9-8b0d-eeb4e237d6aa phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:839fc05c-3958-41dd-a100-37484915597b phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:4cab2bbd-c336-4e4c-9d4c-f8eaf3ea2665 phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d2e7d905-7c98-4188-8a82-1a010192622a phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:0c8972e7-e780-4196-8445-406521aaf332 phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:a39976e0-92f0-4251-ac42-3e89f9b6bd44 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:a64761a6-681a-43d2-9941-b6d6c02b3155 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:5f4582f1-98e9-4c38-826d-1b14ae12b9ec phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:6ad6bbcf-9941-4897-a25d-381b5fa94511 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2671472c-270e-4aa6-b9ed-a2e7f266cd56 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8c1b666f-c878-4103-bada-dbbc0bf382cb phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1a803ee8-328a-407d-b013-1ad0cdf767c6 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:32a95839-7646-42ce-9f50-63f09857a688 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0b446253-5b69-48f4-89d2-b0cce031be38 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:75d3ad50-136d-480a-88ed-93d6cfb147b7 phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:447a046c-0b79-4099-ac5a-2a04a859c552 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:c079c9d9-996d-4761-8dc1-ea99c6846181 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:1016497c-b1b6-451a-81e9-909f48c6b418 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:51efe583-0f01-4767-a1ce-182e36552ffc phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:b32b9deb-a088-4ab1-9ca0-c295cc1ef052 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:d88c2332-ce6b-4e9a-af32-080a39d7d466 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:27f7ff22-5836-4e57-a73b-7e6bb1c893cb phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c080daa1-c749-4161-a86d-3b42e5941ed2 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:a51ace3f-95ec-44af-a12e-6e4ecf2cce97 phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:3d478ec3-9da7-4abe-8132-b1101ae3bf4e phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:b567c1fa-f2bf-4672-8981-0d9fee2de98f phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:cd3df246-e768-4555-b47b-69a620ff1c2e phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:324f1832-7051-4a3f-ae0f-52b109afafa1 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:fc7bbc13-cd18-4f9a-8aa9-787258fd677d phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:e6663b9b-eeda-4c2b-a381-7853f6319724 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:23e57cdf-3b6d-42c4-b143-4d4c3759f6ee phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:7d34c76a-5f46-45ad-8924-3a6abca87f9b phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:142932ac-ac18-466a-8b7b-4497c814035f phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:6979ec50-0177-43d4-850d-ebccdfd47a22 phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:226b9cd3-2382-4f0e-8d10-de2b578c9ecb phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:33a9be40-0813-4427-baff-3506bda9c051 phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:15c6837d-8f76-46d2-ae12-d6640ba6e04f phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:ae89ca04-0983-4074-99e9-d8e2073d521f phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:31345be4-9a8d-4043-98b7-3d37a09c3afa phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2cc33476-0e31-47b3-8c29-34bdf551a1b1 phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:760e6e6d-03f1-4935-b230-e102040f9a72 phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:88c7e8fe-6014-4ddd-8cc6-291e2a061a63 phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:a77de2b5-f87b-4cf3-8db0-59c0e0fb6b15 phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:88d897ec-1b22-4907-a9ce-c421af95d0c5 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:2d225abe-6b46-4452-ab20-363a182dd9dd phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:0b1fe114-4e16-438f-91e1-6d6a2aa437bb phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:71f6406f-321c-4b0c-b4a4-d8936c1eee04 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:cdce2357-c9bd-458f-993c-e6e303dce3d9 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:2e2198a5-cfac-4b3b-9da4-904cc0e6d897 phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:41258497-ccba-4f0f-b633-80b4b761c9cf phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:3cc7fa06-375c-46fe-8ed5-2d3b952f614a phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:7a37f120-63f8-437e-9388-1536774336da phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:c19d0f49-c5dd-4379-a0fa-f5164677d3f9 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34038384 uuid:f15caa57-d109-4074-b488-756c2ecea5b1 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:b4fa5f17-c60b-46e1-8d1d-8efee7f2c13c phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:03e24bfc-8eb5-4afb-9a07-33dec9539448 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:74880ab8-89f8-4482-bb71-de60f90bfa08 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:5b77f875-2d14-44c6-ab64-c6843a883c74 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:8ec4fde8-acac-4e86-81f1-4828fbdfed3a phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34038384 uuid:c3027334-0848-451b-90e1-f7de31af6e31 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_disease OMIM:620755 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:c5463a6d-c8c5-4c02-a0f0-f3af82209aa1 phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:has_gene HGNC:11018 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34038384 uuid:9d3a91e7-c517-4a59-a46c-670902385538 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:652c0e26-c439-40b1-82ec-cbf1e22e1026 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:8342167d-3d8b-41ad-8fdf-fc229b237697 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:5f520daa-03f1-4aba-b90f-4ab4571925b4 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:623ac07e-e4b1-484a-b8cb-92bd0f04cbed phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:84de45bb-81b2-4e2e-b62b-0b6732b86cbb phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:8101c465-ff1b-499c-8a83-1904cd4db15a phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:9a6fcbb7-b9c7-4cf0-a39c-00cc8ac25eb6 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:9f6941c9-d163-4fae-8acb-dfc2beab01a6 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:d0ad56e1-bb64-497d-b7b7-c476957ad230 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:be6cace6-a2b0-4717-9645-70960858eb11 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:a11f75ab-bc59-4ea4-a5b9-f9dfcddde003 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:2378ec5e-fa44-4126-b773-c09a6910945a phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:ee1ad694-99e5-4057-9ffd-f79c3ffe0d19 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:2b8e7fcc-5176-4088-bac7-b965601fd3eb phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0011897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:099894c0-6115-4c50-b586-a64ce6739767 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0003112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:324d4e3e-0f8d-4ae9-b264-5fce027d1ea5 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0008155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:3833b1b4-88c6-49b2-841f-9b7d6195355d phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0010471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:9700f0aa-1bc0-47d7-a129-11a2087fe75b phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0001992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:240cc4eb-bf75-428d-a502-0af7ab7738fe phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:e9c95309-a760-4636-9f49-14508ce88dc8 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_phenotype HP:0003355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:f09ff13f-2feb-4feb-8015-fcab3f9eccf4 phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_disease OMIM:266265 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24403049 uuid:778a6a88-8152-4a7f-bfb3-3653feb3d1ce phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:has_gene HGNC:20197 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24403049 uuid:310386c1-5231-4d70-bde8-6b44ec963e8f phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:0370d4ae-b65a-4887-bcca-bf0d301bf902 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:d0bd6ad8-f8b0-46df-b644-c6922a82f92f phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:40dd9fc8-b58e-41e5-851a-e57383c58143 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:eea0ac69-9faf-4088-8ca0-d2d1f2efcc09 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:e3197841-88b7-42e8-badf-4b8ec8a7073a phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:814607b7-280a-47c2-b35e-0aa221b5f3e4 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:9fd4f3e2-5840-4cd5-865d-991c3a263cd0 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:475b711b-ed10-4f35-adb4-dbaef6cc5b1a phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:6f02b62d-5d86-41f7-b9f6-b9e60a055feb phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:949a6d5d-55e5-4fcf-9526-6f181a24267b phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:2d91a64b-88bd-4d37-9422-2f4e5bac7566 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24403049 uuid:1d4840a9-3cdf-4019-81f9-220f28140a57 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:1b21804b-c08f-48de-a6f0-851a97363876 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:463de146-8601-4619-8476-d9f2f7819eff phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0011897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:6c9484f7-81de-474e-8530-3c3a6762e4a1 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0003112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:e3a8ec58-ca35-46ea-8bd0-926c05503e69 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0008155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:36e56643-4a67-4c7c-9430-df910d07956e phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0010471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:86d795bd-2c87-4fb1-a961-47fbc9280357 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0001992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:fb360316-a8ef-493d-b75c-367460c1ac12 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0030352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:59e56148-d49d-4e26-bd03-b0f453836fc1 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_phenotype HP:0003355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24403049 uuid:1d149dc1-8ac2-4b37-89d4-c64821c7eb06 phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_disease OMIM:266265 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24403049 uuid:69743fab-040b-4bd0-9a86-f67fbd49826d phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:has_gene HGNC:20197 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24403049 uuid:c3ab9faf-3268-4516-aff6-aed07dafc3e7 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2a40f1fc-c177-46c4-9694-6b4b8dcfc166 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ef329f49-bd71-4d6d-b46f-934e35dd2a3a phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a4a60dda-907a-4542-8013-05280dd20900 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:551b2e2c-2d29-4c33-968f-8f3ce273c294 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b8135986-eec3-44a7-8b32-718b0a142803 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:831f9837-21cb-41d2-8796-30664dc21237 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:8f0b328c-41b9-42f0-b918-f893cadc80d3 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:98cc742b-28f6-40ae-a979-fae81758cff9 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:58e07546-37ac-4a92-a338-36a66f87c1be phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f530e4e3-9f55-43a4-a0e0-afec4f28e8db phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:68ba11fc-d66a-4ac2-83b7-38e1fc7c30cf phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:8d68c9e4-f213-433a-946a-360cba2585c9 phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:c123ea8f-6ca0-4c28-ac6b-22ad5dbac422 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:513ccb98-8f17-47f5-9b5b-05e01a7f9384 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:25b7e08f-3ff6-409e-b3b2-9dcfd8bbd932 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7f031cec-f5b1-4904-af0a-e4365fad4b92 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2558fb63-f3e2-46c6-b1cf-73468b3e5726 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4622dff5-b392-4257-92a3-574e53ac8a6a phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7b20de3e-c330-4835-8576-b51aed2c9c38 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:a186703b-147e-4122-a077-c7ce5956e178 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:b95d1ba5-f708-4396-b576-dc4e80bd35c1 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:59c95d80-0f2a-4fca-a6b9-cfcee66afca1 phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:d7eec39b-3b5e-4902-b5de-43f8a906a5bd phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:fc0c33bb-64e5-488c-84c0-ea0205f63e1e phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0226ed11-9f16-494c-a146-031c7e5d68cc phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b189d43f-7d4f-44ef-9324-cd544b113595 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:929aff07-ad6e-4fa8-a10d-76d42def470c phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:da374290-8f70-4563-a9f0-4270524a7ab0 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0930c344-38a8-41a1-ba00-9a3254339886 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:bf9bcb91-11ae-46e1-94fa-2e6e86525027 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f4e19f6d-4da7-4612-a727-a26327f03c38 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ab026c45-f695-46b0-9cd0-b80ab5bee9cd phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0bc13043-7638-45bb-8dae-99afa4258539 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:a0644e5d-e424-412a-bc16-528695c05b64 phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:1f75b7e3-9cfb-4771-89f9-1f1490d38178 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2177147a-2205-45bf-bc2b-803562bf30c6 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2eef87e8-62c0-4d6d-b992-03c3cab5d0aa phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f49023ca-bb43-47e9-9473-0ae7b139140c phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:37d2f72f-ac9c-4e87-b48e-3f60dd957e23 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e3a39d13-b377-411d-a4ee-ea7f843405c0 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ebbfc7a2-840a-45d6-9ccd-217e74526498 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7e1f29b8-d709-4414-af36-849238d9800b phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d8265ac1-2f0f-4df0-a60b-1bf49a58c4ee phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5a02f48b-bf69-4d4f-92e1-15e7f59829d3 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:e660b434-574e-4d48-b8dd-8ab92a16d5e7 phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:37b3db6b-c81b-4196-9b98-3be94d035b9a phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e5973861-0647-44e1-9b91-9a72579e1099 phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5d7fef9b-d8b3-4ee8-be82-09690415b0e7 phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:1541a8da-edfa-4457-b48a-a22d6713691f phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:18b690ec-5aa5-4187-8ed3-0a24dbbea7d5 phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f2c02493-ce8f-43de-a014-384291c71b1d phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:34e06601-b463-46de-ad7b-6f4fd87b6ec2 phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f61c2c8c-cc15-4ba9-acdf-eebdc693e1bd phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:6db66d53-5aa7-40b5-bfcd-fe622daec162 phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:2d4a2ca8-f654-49eb-b782-612d6b44fe2c phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:f9416e22-549a-4901-a4fa-77f531c60551 phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:d8cbfa63-07d0-4f79-b578-73c9d0470a10 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:72e2ad84-2e7f-43be-ae8c-d90167d1f567 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6f3a2fc4-9c32-478d-80dd-bae166482974 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:3d95094e-11d9-4337-abea-262c4764dc98 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a8375909-21b2-486e-afa4-fc38b9083149 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:918e7b10-8ee5-478c-a36a-71d159d331fa phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b3596da2-2242-45a8-8eb0-9c26ae80b26d phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6738e5a8-bd44-48a5-98f9-f23413d10fec phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c932b361-5af5-4e8f-906c-e1f5e6b18185 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9b88730e-95f8-4334-a758-56cc6413b095 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:afe4ff7a-7da0-403f-ac14-df3f66f9f2bf phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:2d7ff57f-2c39-4b57-b36e-83cb6cd5dcd6 phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:f633c9ab-0b59-4c66-816a-d5d47be0d5b4 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:19631a79-90b9-42b2-8377-9ab1fba8cfd9 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:dfaa75b6-088f-43a1-9a38-5457805eaf29 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:925d9af5-a27f-46f1-875e-b3d06d6f6c94 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a0350473-9c38-4bb2-9dcd-9b880de7caa3 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e2b95b21-5fbe-45ae-811f-ee677498d854 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:57c290e9-78a8-417d-82c0-ee827e5bbf97 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:8742e3ed-9383-470f-b60b-1e9559fa5533 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2c6770a2-b607-416e-b4ed-c6d692bff539 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:4339fee1-d857-410f-901d-56ea6e129695 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:f5a51534-3b5e-4059-849d-8464471db9b5 phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:162e6c80-22eb-498f-a419-08d14555f4cd phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:6c47620f-48e6-4084-9388-934b76d7912e phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b7d47d56-a4c5-40a2-9837-45a647865767 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:02ba7733-49e2-4961-b025-8596f716a3eb phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7eefcc33-1ca6-46f8-af21-fd5d9f2e2c07 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7670c449-b068-462b-99c2-4c6d863edf35 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e76c6a8b-105a-457b-9541-61e8b66aef0b phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7f3722c9-acb5-4fdd-b643-0aa81c9c3586 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5ba1417a-a2e4-4b39-802d-e281796cd171 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:8c617e0e-c02b-4e4b-b87c-48084ae0dd58 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:42402df6-d721-4f66-804c-a41944852fb8 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:67fe7fff-9b79-4f6c-9b76-d9d07190a7ff phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:5aea614b-d6af-4d28-b0b6-99333b268555 phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:5903db11-f65f-46cd-ad99-69e8e028517c phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ed5e48e7-3973-4943-b81b-0a3ebf7f2d0e phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5205a4d4-2e06-4f39-a6b2-a14c052ab49c phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:678b202d-8aed-4990-b332-6ebb3a5f64f3 phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:00096e1c-da44-4621-b4d2-b5d735679fff phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5e1eb713-77e1-4c04-b8f5-92df9d02b77a phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b7601793-7ae8-400e-a03c-f266a8958a1e phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7bc35c24-3004-403d-b39a-0554fa53ec50 phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b80da6ea-da0a-4b56-aec2-5ca61712698e phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b72737d2-1530-4d39-84db-e3d274517a97 phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:e0a9895d-fa72-42fb-a899-e6de58e84b00 phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:fdf797a2-c1f2-4f1d-afec-90e610f25a31 phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:3f72aa54-2a42-4edd-a764-18486f451cd4 phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:12ff492f-4f3a-4d12-bcaa-e37f98a1a67f phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e7ff396e-0fab-455c-9d53-c21ff3e86f1a phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:459d6a6b-7228-403c-bc1d-cd30b29ed2ba phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d34c5a09-582b-40ad-8a6d-edf86b4e8bb1 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b9158361-a68b-49f1-aa11-563925d308df phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:fa695ee4-2471-41a1-9800-82be1d13780d phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:95a625e1-19e5-41f5-b3d4-ffe8c5e3a096 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7caf8a81-733c-4595-a600-65e9186f49d9 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e388c3cd-356b-4919-950d-f57aec0b8d5a phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f19da68d-ae1a-4b47-a02e-dca3d45b35e6 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:9b9fd7e6-3088-4526-bb0d-d36b5a165c16 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:984317f6-f2fe-491e-ae06-0a3249f2e4a5 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:26b6ad94-ac6e-4765-8f42-de44d04697f7 phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:10c8d4e6-3189-48f2-b3df-1f10784a37bf phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5fd68097-7890-44f5-b390-4f89ce5b06dc phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:331acf61-02fb-4772-a890-d46f402f2e4a phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4f66c0d4-c79c-4001-a196-24ddcd27feba phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:59b944a9-6c78-400a-841e-320ba6b2dbc8 phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f036f7c3-e136-42fc-9e67-63024b050430 phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2b34ebd4-dcf5-418d-904f-bdd42b5cd2bd phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a64ddb13-cb2f-4a45-894f-2b12e00d7630 phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:cd61ab23-50a7-43c1-9413-a637f057192f phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4449ff98-937c-45b6-a1b7-93b0831687fc phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:f6e52014-662f-4c00-ab78-c842c70af3e1 phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:c5a383ea-db89-4172-9f94-e7c9862d4c58 phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:580a8a48-9b25-42a5-b9cc-e6eceb785a57 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b9b72f64-fb6f-489c-8a69-e703734f30a9 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c329dfdd-3142-45ae-a745-a7aae6cfc8dd phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:18ea8d8c-1e54-4edd-99a9-77fe00dd45bc phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b5642f0d-8efc-4ccb-b04f-ef06453eebc1 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e091a7ec-e529-476e-aa8d-a4a3d36f6eb0 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:79faed1b-f57d-48dd-bf6b-e4f9df6f98b0 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4e8d8753-080a-4f0c-9df5-de6a73f7f6bf phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0b97e6e4-9b26-4623-a30a-9bdb5420c049 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6053d7eb-9486-4165-b40c-6e50ddf5ee59 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d0bffedb-1466-4c92-8e70-61ed4bd9e2d0 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:a33a122c-ff52-442b-9cf4-27dace221338 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:e8c2f286-e606-4c78-ac83-e798d1845e30 phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:36211b5e-7e38-4ea6-8ffb-623dfdcfb2cb phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:bf72f730-1d2d-497d-b9f1-b85b2e688b94 phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a1d99a4d-e5ad-47cf-b145-c5abde8f98e7 phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f338dd1d-d7dd-4d8f-a1cd-748aa52d3968 phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b8420dc2-9ab1-4dfb-95c2-ed8433e4e8a7 phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5bfb5bb3-e5d1-4cc0-a2b6-5fed25e2319c phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c98c174c-4a66-4e3c-b8dd-105218a58e7b phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:23494891-5ad0-4116-8c0d-3220b45d1901 phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9dd8b117-e3d1-4560-a0ae-8f03abe5e2a3 phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c8c93eec-65e4-4df3-9b10-778b9525196a phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:ef542b22-721b-4169-9d60-f3d55a3a509b phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:1e71be33-189a-4fc0-917d-e1ac35c459fd phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:dc161a9f-be08-4e92-9904-e11589b695e6 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:72a9c323-0007-4b77-9562-57288bf5e8b6 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4dfbfe90-435e-4aa0-9029-259cf4243eff phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e2bb0afa-b4ca-4199-8669-7c0713f06c3e phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ac1d26dd-9aac-4def-aac8-88df47d65ded phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9c40a7f8-bd2a-4bfd-be95-344ff23d721e phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9e1be0d4-b94f-4b9c-93aa-732e4086e997 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5a97828a-a18d-41f9-bd41-af6cb0e6c7d7 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2f407045-a56e-41ac-a251-76375ed1f209 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:95c5f179-e26e-4441-9c60-6629ff5c779b phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:13cf675f-f968-46a8-a2e9-7f1cd99d24a8 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:65fa9d8f-2466-4def-8a18-13f2ec98cb30 phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:a1676e7c-5ad4-460a-96fe-d416d2e89265 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9c2d1720-0b2f-483a-8459-137477b628d7 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ae4b57d7-4296-4c3d-9e41-db1df21b62e6 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7714d115-dc8f-4612-ac4c-7a0e32963267 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b3f75e76-1606-4951-a6bb-7f4998f71fea phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:798998a5-f685-4c5e-9e6c-21be177d5d20 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:193d02b3-33fe-4912-9ef6-b12c15a2611e phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:dcf4a239-15a0-4eec-9f82-236216c01447 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e0b9f1ef-5b26-4c71-84ed-530ffbe747f2 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:af93eb19-909c-4cba-9322-fe542735f894 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:02755a6e-8e3b-4982-8762-d683da05c922 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:60420f86-26b7-41f8-aed3-3a130d09a3d0 phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:6b5c9dac-7268-4312-84b6-99cdb3a3943e phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:f342988d-4713-4b59-a746-9b88dd2e0060 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c1e4c98c-1146-4073-94d7-a0d54c049b23 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a6290cc5-878b-423d-8fa3-978352877ce1 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4da89969-c72e-4f77-9d75-50aa6a740c87 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ba5a02ff-86e0-421d-8aa1-dcd19fb3c75d phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ed780035-f1a5-4151-a0bb-a9ddbb1dbcfe phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:69d62261-1e23-4bf6-a8ca-de3f35e5b0b8 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:aed1edea-c654-4e9c-ba98-2d0168694992 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a807dc0d-17a7-4825-a774-1eb93e98541a phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4409c3e7-70e8-43ef-8663-e4737ecd6aa8 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:4081c625-28f0-4a13-9a74-9acf12b6cf25 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:c0aa0f8e-4da0-42b9-baa3-2938650b0256 phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:53ecea06-8689-4582-97ce-b4058f9158d5 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:efa40d4b-f494-48d6-a103-8d3df86494ae phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e26f6acc-e908-4c7f-bb9f-2d985670b894 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a25716a6-54cb-4847-879e-0b437526a9e2 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:70d1c938-efa7-45bb-af7a-ea3ab3b42473 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6eb1bd43-ace3-4daf-9d0f-403654fd9b3a phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:baf80087-01aa-48e7-9aef-b23e72fd76d8 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f7e79b64-442b-47ce-8036-9658db01c3df phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:04ffaa27-d25c-4c4d-bb64-5783eddbf327 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2b2630dc-4a05-4139-8c96-43fb0744deb6 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:1ef578e6-08c3-404a-9d26-994b5a6f1867 phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:18359d6f-8f36-464d-9ae8-520a429bde3d phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:51b1ef18-63cd-4aa0-9a05-88ea74b556b7 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:441fa6c3-5724-44d5-a480-1cb095056eee phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:42370f35-aa19-427c-9985-f27d49f3ed20 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6e3e0912-d96f-4021-be98-68ad8ef04f46 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0372ff0e-aa90-42fd-b3b9-6252b142831c phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:fab8fce6-df7c-4367-8131-bab367b49034 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ec7a3cab-c97b-47c0-8fa7-28018d21d612 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:abf50f11-80af-4330-b2f2-a171e660e6ec phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:66801a7c-796d-4af8-93f8-856b501c996c phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9251fca4-0ecb-4554-b5c6-e4d270214681 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:65dcc41d-d9f2-4c0f-8176-25e1dcf037f2 phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:13f5f6d9-2d34-4be1-96f8-33e3feb9907a phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:d1e5e003-8392-4a81-aa02-c5af41391a3a phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:0a09a769-5b08-4030-aa01-d2785d42a834 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f6f55b5a-5252-4b80-b4c5-f99a222c1001 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b3da40c6-b6ff-423c-b23e-1b8dcbbb8352 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:def6d432-cda5-4734-8909-a00d57fa8d2a phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c884675d-636a-4c7b-a600-aa8fd185ffb2 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4b393589-d7c9-4a81-b2e7-facde462b372 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:66a8b46c-a5fa-4c63-b7f2-e699a423a750 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a8b81799-eb74-4378-9ea3-39f1fafbf31e phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7c64e6d5-ee97-49ec-9602-60ba7c1e834c phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:776fb9d4-a81f-4876-89db-1446631c190a phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0284dd23-8dce-4e42-a89c-73328bbe6b0c phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:a8d4dae9-3223-4744-8a01-06c2e2658af8 phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:c3f1e086-ed65-41c8-a8d2-8b164ff77e93 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:8494c5a5-89a9-48e9-bd2c-6ad5b6339053 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a529ae04-a297-451a-85a2-8387649c2e70 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e66b5e74-707c-44da-87f7-82210870ef92 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:4ddb4e71-c197-4707-b202-c471659acf29 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:90ffc671-f0eb-46a8-a1b4-362c5f47380e phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2e756d24-0902-4798-ba55-75be1730aaf3 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:e57fd79a-520e-41d9-9ca9-737ae0a41c4b phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:4ad7e14c-d48f-431d-9ab1-98cc6dbb5a1b phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:b8a98b5b-b0e7-4ffa-8096-edb890fec0af phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:a942d3ff-5b6f-47be-829d-963ccae43714 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:6cfbce19-e4eb-401f-9982-8bc50a769022 phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:869e978e-3b5e-4213-9185-a7c98089b98b phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d2a1d444-12f9-4f9a-9597-794991eb9696 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b14511c1-c239-404d-ad80-ce72be5244d2 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:1834a5c1-0d2f-42fc-bc64-faaecbce9290 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:58169c71-9c2b-4e6a-b3aa-9a0e61702ed3 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:1d7cd611-6677-4a32-b4c7-b9b5f8612f35 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e5d752e1-4210-4bb8-ba02-d1ccda0fbc57 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6199f3c9-33f1-4320-bad4-55c2f5a00a87 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:6d33a8ad-f4c9-4ef9-b234-975d8a72e43f phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:764723ef-5e12-4157-bdb6-5ce66bb7432e phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:200d1d7f-08cf-49fc-bcb7-2e65c076961d phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:913006b3-3aef-49f1-8f57-165c39cc4f03 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:3a1c8887-6cdd-4e77-aeb1-5a307713c0b4 phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:1689f3a5-f07b-4659-9d65-dd33a7d5ccf4 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5fb01d32-1819-4fa0-89c3-2ebcb96c9524 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:601e4189-6278-45ea-9bca-f57fb15c6bf2 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e35f3be1-d5fe-44ca-ac17-8ba65adb0898 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:bba00f8a-89ca-45de-b5eb-cc1eefd167c2 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:18440b3f-f8dd-45f1-9659-29ee3a8e46f7 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:3cc5a08f-75b7-4b64-bf34-9f98faf2d297 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:aceb8ed9-5dbc-427d-8e12-5234d2bff160 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f5ef32d6-0a53-46b1-94bd-6dd31bf77148 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:db13f987-fceb-453d-883e-74b3758a2b2c phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:6af2df7e-7838-49d9-bbeb-7d974d1ca1f1 phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:cdf8c830-5211-4d3f-9881-aa0a290467ee phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:d23c4392-380c-48b1-a476-35c621e734ef phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:46898960-97b8-4897-84f6-1ab6309da599 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:468d3986-88f1-498d-83b2-77fd0b8fa80d phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7ffd81dd-dcec-4452-a6a9-7aa865a84ccf phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:92ef3f0b-ff87-4b3a-b7d7-d1afd5e7f2f7 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ff822efb-053c-4c71-b223-bcf1a748b9d0 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:bead0393-cc3f-4ce7-bd1e-8fe1e07f4316 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b95fb7ed-102f-4e9c-96ec-1dfdf6f008d2 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b1c9c8ee-843e-4bbf-b349-200178484f89 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:71044410-2c22-44a0-b6f4-277fa5de3247 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:e3dd42a0-df26-4ea0-9267-6d5ef570e3a4 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:fe5789af-1432-4033-9242-722498bac655 phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:4c440c19-42ea-40c0-b1f7-73f3f0f93722 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:83e3f778-55f9-4e84-aa22-92bea2b6f05f phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d2e98115-f8eb-409b-a4ce-b45d4dab7eb4 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:48a0f6cd-263c-43e0-921e-c4c8d4900d4c phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c94aba5f-eea2-4b52-a9de-5e0c58bb1159 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:38e09d8f-1e08-46c7-a679-5188c91f7d2f phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:3de061e0-34be-4d62-9e2b-3a7a3f1f8046 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:3d47a13a-9a25-4861-b6cd-4f769a524cde phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:7d320442-14e5-45d6-9800-bf6310e1457b phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:c11cfa99-4c9c-4456-b2c8-c2d2ed5eab62 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:627ba85c-6767-40f3-aaa2-6ea475d1a470 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:c4b29969-e495-44f3-94bb-b65520229473 phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:0e0249f4-d1ae-4560-846b-b87aae1df9c0 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a759be98-7441-455f-98b5-1875cf4d523b phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d9dd0dc5-8448-4231-9278-196bbfff4e3d phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:66bc0533-32f0-4352-a323-803f4701d0fa phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:58241a60-4063-4aed-8875-f856887b1301 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f4f0c643-c3e8-4825-9344-6075dacc4512 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2e637f81-118e-4856-9bdd-3867cf816fe9 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:608a70c7-196f-4e97-8892-f3d823ab6d10 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b1f429ce-86a4-4c8a-824d-c52be9a644fe phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:461ccb0c-a39d-4bca-9701-ddb440acd75e phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2550a946-26f1-4337-bb5b-01df1d7c0976 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:463d7214-2ebf-4f0f-9d2b-17e6bda28312 phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:fd0aa676-e834-4edc-bf64-82844663ff2e phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:3f827a1c-92e5-40fe-8fe0-635538dbe8c9 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:8cb9ad4d-d0fb-4e3e-83c1-7e1a3eebd87c phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:33f5562c-b878-455a-8d4f-db899ec551bf phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:5033b038-ac10-4d06-be1e-068566418b15 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:31a7e3c0-8eaf-4a86-b325-1405cb21ac82 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:cc6bc420-5b58-4e2b-96bd-a65624e38c87 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:abb28487-10f2-494c-9a6e-8e42545e9768 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:aea24b69-8bf1-4357-ad83-29b7a9648b78 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ecad5b45-38b1-4077-a598-5164eef7c9ae phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:ab03ea57-8fc4-43bb-b3c1-584b422fa4a8 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:fdf9f24e-f331-47b4-913f-cae59a11e277 phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:7346bd6c-1bb5-41d2-9d70-cedae1882bbc phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d8de265b-9948-43df-9f2a-69b17a603204 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:2b10bdd6-faca-42d4-b62a-fdadd8024d9f phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d4bd80f5-309f-493c-809a-a194a50ce002 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:0f702e8b-955f-4aa6-97b0-dbc28c3a2337 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:1e25c054-a626-4dc4-84d1-af161c3386c4 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:82f7e5d4-17d1-462b-8d83-b5e04acc5136 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:9a4a24d7-2e52-4a03-8fae-46c5d3700299 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:240afb64-dce1-4472-8bda-cacbed991143 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d9605586-19a4-4794-93a7-4d3b8a64d17c phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:7305b176-ab22-40df-9e04-c5ca7980e543 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:d6a0ecc6-c73f-4ee9-b2ec-6d2f27d0cd07 phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:3b6f6bd2-432d-4203-8c61-084695ddc58d phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:81a646e9-1af1-4d5c-aa50-9090445a58cd phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:e8d56c4c-b27f-469b-a689-563daaf1a500 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:94c4469b-f585-4e20-90d2-39776b724243 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:fc0a1016-9318-471b-b441-e7951fcd3bc2 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:15fa3d8d-c3ce-48f8-b45a-05863b2dd1c3 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:fccfaddd-c7a8-4df9-934f-4215d3ac9140 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:f7c320bd-01ed-4100-8473-1f3bf8a522c9 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:abf3747a-0910-4a64-95e2-00b5e9c9394c phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:06e75472-7a13-4252-8ca4-40514bbe8608 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:d318ddf4-9a2e-4a25-9328-ec5cde50f315 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:abc06e4c-72ff-40aa-8bf7-7c5f4e07f510 phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:5d452eb0-e1ab-4faa-b850-8ce8fa7c59dc phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b1d49dba-1f8b-4ef3-9936-2a35281a715b phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a631e70f-58b2-4401-b1f0-fa222d926190 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:3bee25ce-64bd-4714-8491-8ef2eefeb0d9 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:dc000699-6001-4d81-b1e7-1ac4dc476a79 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:002ea022-e175-4b43-9ac0-be7ee18cfcf4 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:cda5f8da-ddf7-40fb-a417-d3489663cb94 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:458cb996-e685-4b55-a300-4c16dbb7b7cf phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:29a57256-4fab-437e-a788-0fc7a14e5e4d phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:de7a94fc-21b5-477a-80e7-dffb0aa4fe4a phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:bf213497-16c7-4c7f-83f0-eec0515ef006 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:b9a84c88-5745-4836-8a8f-a726194ece5c phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:da37fe3f-7c96-41a7-87f4-55f7dee9f916 phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:a4249207-20fa-475f-a20a-a77462c5a538 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0012805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:8936ae4b-8286-42e2-b35f-958c36c23b83 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0002227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:455bcd23-b15d-4de7-9850-535421f1af5e phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0002226 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:f26af524-2684-4cb2-ace4-e91ab12fd36b phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:26d86ba7-a1e4-4753-95d8-6c1ec2702523 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:d271d6ac-916f-4a53-86e6-49e14d033919 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:a58be63f-921d-408a-8104-31d52943885d phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0007730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:611c3f45-d632-452d-8e60-90681ed3fe1f phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:ee7df26f-fc58-4843-a5e7-11d58b5daaf9 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0007750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36553465 uuid:90c948ee-755f-4f95-a99c-1cc8ee781f96 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_phenotype HP:0003764 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36553465 uuid:1fe22a94-d671-4364-8fb3-81f5ae107036 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_disease OMIM:606574 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:a12f960b-4f8a-4ed8-824c-ea46b446c929 phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:has_gene HGNC:16472 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36553465 uuid:99d61030-3bff-4cce-bf40-20502b24962a phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:f3ad249f-9f39-4872-9928-5ccb3345f6fb phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:7100fccc-40df-44f7-a8c0-01f6c1ecaea8 phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:1b99557e-141f-41f3-8fe1-5dedd40c1ab2 phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:4cde0dad-dafa-490d-b210-f9d19e4f605f phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:c6df0323-ac4c-4ad3-b9e4-6e781168d8f7 phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:c0663985-f5e8-4262-8c81-44886e46259b phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:f722cc9e-9d76-42b5-aa88-b0e9919da231 phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:7560626d-5693-4d23-9612-6df7efc14567 phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:8bfdb96d-0c8e-4241-9623-2f25b2f49984 phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:395a299a-3eb6-49c8-a65d-7a7e9fd1538d phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:654231df-1569-44fd-a2ba-b5a9b22b1273 phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:a96f62e2-b97a-4688-a968-0a2eb02cf842 phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:390e96f7-d3ad-4abd-ab60-01b6d803b42f phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:a0f0fad5-2274-4a16-ba19-48648b60d1aa phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:7238c4ec-cffc-435f-b784-faf1f721e696 phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:65b7d4ec-a8fe-4eb9-b978-4aa7406a7a25 phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:afe490e0-c9ab-4499-8429-8df17441dc62 phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:b624be82-6ea9-493c-ac1c-fe363e793f2f phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:41008937-e935-452d-8433-a6144f31d66e phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:8f7277cc-b8fc-4c71-8322-49b432973b0b phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:7538eb78-a1c0-4588-b903-91dfffd69b76 phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:e9f3de1c-010b-44d1-b3a8-d90ad9e8940b phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:127ac032-6f3e-4a24-9d1a-916a51ba664a phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:13846e48-e787-4c1b-870b-920ed182da97 phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:c41970eb-b395-4f44-a7c3-f83ead9cf75c phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:eba3c202-b788-4cc4-93ac-98998186f047 phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:45abebf7-2bed-4ef5-a986-aed5093705a2 phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:6558fda6-6d5e-4262-90e4-927947adb240 phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:5ca9f496-12a4-4f89-9408-ee8a5c27a484 phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:5c73503d-c251-4a2d-b0f5-18b6614ea946 phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:c407f054-f7d1-4999-9fae-7c6b48c32b3e phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:b6e2d877-4df6-45f2-a94c-1a6d0905c784 phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:64247993-a6e7-4f05-b177-06528de135ed phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:88c14c09-fe0c-43ce-bbab-baa9425f5c6c phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:0ccd527e-d25b-4781-8363-e5a013b1c86b phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:8110b80f-9328-486a-8666-952a636d4041 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:a83e2027-ac80-409e-b45f-3a81395895e3 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:df8eb13f-e0c0-4c73-becc-a741438ca147 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:26368f0b-241d-4a1c-b108-d3d49159c026 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:29694970-deb6-410e-a570-30f39a28d1c9 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:0dee4a44-2db9-42d3-a785-5e8f44d4c097 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8282779 uuid:2fb5e66c-f958-4ed5-96bc-237868a2f336 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:762af1c4-cf82-4243-8e26-60240f3ca689 phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:aabc98b6-951e-46de-b936-ce03a94907d9 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:2e30af18-b31a-4402-897f-72d809c78761 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:6920edc0-6c45-476b-ac3a-1471c7241647 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:1ada44fe-e4d9-4328-b572-41e2fbd31c5a phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:f04ec097-07e6-4ac6-b0f1-6be3fe852478 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:66d537dc-9a81-470a-95f3-2f0450b870e8 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:40bc5838-4fa8-4e76-aa3f-e38b78dbc19c phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:ce25370f-31bc-4f9c-88dd-1992aa0082d5 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:84aa2afd-f82c-4e61-ab5f-9165a3e0a464 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:1248aa0f-316a-42b2-9d79-2474ccf78817 phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:19f2173a-f282-4c24-b8b2-97492bb51e44 phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:669cc61b-f682-40d4-9351-bf14e61d342f phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:fcdf4551-f8a4-4ca7-a501-211cc79cd7cd phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:df448b92-60d0-45ab-bb77-dfdd3050225a phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:f4fae737-6f90-472e-8f9f-e047cf19d352 phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:e1b30524-ff49-4103-8f0b-a88ffb12c756 phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:2d9d87e9-c652-4c06-9cf2-66ef0eb8fb27 phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:aeeb3860-8b4f-4c25-bb6b-f6e86ec01ae7 phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:a30b8c41-2e22-43e5-8e45-02a6bfd80e19 phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:55c01e34-dfbb-48ac-9636-1720a82230ec phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:bb17d3e2-4cf8-4ebe-b44b-d2881009cb44 phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:a4c748f1-3b2b-4675-8e95-54155ee76b6d phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:dd0ed9a0-eac2-4ff9-8b3b-cb8c13878a90 phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:4b0d67ae-41f3-4ad7-ad24-5a19aee51362 phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:5fc08dcd-03e0-4ec4-9671-1999320054d8 phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:2000d34b-e6b4-45cf-aff6-4e196627daa6 phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:ca9d1a95-627e-46a3-beb1-cea328cac06d phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:6446884b-fda4-4490-8d9a-adc6fe088050 phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:426a52f0-ea3c-4cd4-a8df-c826a04a8d4d phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:301933a0-8beb-4d2e-90f7-87e295de2e8b phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:b8a9a196-c03e-4b37-8897-42bd1277a164 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:77a3b3f8-f6a1-4fe8-b5f8-02fd0ebbb3e3 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:334c650e-8f3a-4344-834e-98a0642eb3a8 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:6917eaa4-65dc-4a92-b8e1-b8a0eb0d4fd6 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:4ee04dd8-12cb-4702-9878-b721086fc3cb phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:b33b7d4a-2e2a-467d-a629-25120787af6b phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:9b4b9880-a659-4872-82cd-67d0125503d5 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:bff2c5f6-1f72-4faf-920f-fdc313458534 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:4fb9ea9b-089e-42ba-89d9-6d371c576cb5 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:62245127-1616-4894-8d77-de741e44dae0 phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:7e0df89c-1833-4ae9-b3f5-31d625c48d26 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:81335ab3-f2cb-467a-bfc0-016130a943e1 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:6a4a2128-b310-4cc2-9682-43eea2ac887e phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0004918 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:08b3ebea-49b3-4b2d-9a98-89d8749640d3 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:47076484-2093-484c-be4e-83e7725213e9 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:821b4dd7-e947-4b83-8237-d107232598bd phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0004445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:d7f17607-7dc5-4ecd-b9b0-11fbb0c8eec3 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:5c8752ae-ef1e-4132-9dc9-c3b0b9aab776 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:afd621fe-68f7-4da1-8016-4e7fb0b2c460 phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10571775 uuid:5efb13c5-0da6-451f-91f6-52c653f27d1b phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10571775 uuid:3d693ffc-06e5-40ff-b075-46098380825a phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10571775 uuid:593b4752-932a-46f7-9930-4d03f459c67e phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:1bec2128-68de-42a5-8223-8518d2fee9cb phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:384c665b-3542-4c7f-8a52-e72e7e059933 phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:dea25117-dfb2-46ca-bfdc-f47938caeda8 phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:415e6c6f-332b-41d1-a3fa-c4ee62afa704 phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:9afd0555-43c3-45d6-85b8-02255fe2aa34 phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8282779 uuid:4998f1b8-c099-4894-8cba-8dfbde792bf4 phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:a734ab1c-6ae6-4c52-81b7-471f6ff3f408 phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:6f61c717-aa27-4824-ac4b-5be3bfebd833 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:28984b9f-f17c-4ff3-9ff1-4d183bb00812 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:96530995-b875-407e-ace4-409437acf563 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:224ef683-ed1d-4cf2-a84e-941e51d2e77f phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:08b69b5a-212b-472e-929c-75ac21fc6877 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:76a43584-db1b-44c9-9408-66e21dab917c phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:47ef22bf-2fd2-498a-954e-ca1f3c66d0a7 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:ef266b5e-8a6f-4a5a-916b-884c017ca4a9 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:ce548d3c-1f04-4f61-9129-e2108965e4b0 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:efc41672-e679-4db8-8f55-975cb721eff3 phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:65317b6f-f725-4cec-9274-1a5a25792193 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:2916cb3d-64f5-4996-aae7-a72b187e2933 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:2ee34468-ffa2-43d4-a092-eecd721daa73 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:ee699d8b-0dfd-4700-93c4-bf37a0dca53b phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:0f52e57e-8a9b-4869-8da3-2d57a4db7e1b phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:1a928888-1753-4810-95dc-c70a10bde098 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:fa1ce82c-6da4-4c85-b616-203bbb0cac34 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:f4bbc674-42c4-47a2-a0cd-0f5de6de3b33 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:9ce06695-e1be-40c5-90ae-021c1922af49 phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:b24422f3-007c-4163-b245-b84ad6bf2aca phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:2190523e-fc78-44d0-9cca-9f6ae609ce1c phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:df738a22-4e3e-4c26-a367-b9d2434a44a0 phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:29b9c8e9-f22c-4444-b1e5-a017e5e35b8f phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:b7119617-afd1-495e-b0fd-f097b472e58a phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:abe196d4-5490-4304-9f5e-bd18ffa1b390 phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:9d372fc6-c872-4c24-9075-9859aabc9d4e phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:82d5f22d-c7da-4bf2-901e-a6dcdc9f8aef phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:acf8752a-a311-4d9b-a743-2577aa8db07c phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:4b5e26a3-d185-4eb9-b9eb-a16dbec947e9 phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:bba37e1d-b5e1-4fe3-b7a5-bab88a7161ba phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:aad4b7f4-3409-4b71-a54c-0720b528ba75 phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:a7db872d-d685-4b48-b1e6-4b67a8f47d45 phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:658437eb-0448-468b-959e-d8e711dda0b9 phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:38d6c39f-4c36-4999-ae86-cbe008095d5a phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:b163d6d1-fd0b-43aa-9487-5c28cfbae30f phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:94e43089-5927-46cd-b10d-6ca592897f5e phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:52325f1e-b8ab-46dd-a416-73e7162bd92e phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0004918 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:3f9bf7ab-fea8-4e04-bccb-086c74b4e753 phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:1fdbd0ea-d0f5-435a-907e-9a3775c6af3d phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:a431540c-c121-499f-9b76-f9f420f820ff phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:3940fbbd-44fe-431e-9c99-e3cf41db351c phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0004446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:20799361 uuid:6a0504f1-3053-4297-932b-d2bbe7423055 phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0004445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20799361 uuid:e0f2c710-5741-42c3-b785-d20f3cf45c9c phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20799361 uuid:c4c56ac9-30bd-440a-bbc5-f09fd4bb98f3 phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:20799361 uuid:04cb774d-d116-4141-bd0c-ed2c9b51bfae phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20799361 uuid:9ea2e06c-57a6-49f7-ae19-8bbfe9d4d14e phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:902059a6-2977-422b-90f8-fbaff4277432 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:00d2a634-5e03-4696-955b-913d2d65ca73 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:ff4553aa-73c6-4e1b-bb7d-cb9dfefc1ef1 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:5b463634-4073-4e9d-8fe6-4796fab70961 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:0be8a7ef-ec34-4b90-b594-8605e4282592 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:005ebf61-13f0-4afc-bd55-b1ee70ad18e0 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:99d79934-aa9b-4ec5-80c0-daa55fa9c736 phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:e44a0fc4-e67f-46ea-87b9-8e9e1ad3572d phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:d1680037-dbcd-4608-9250-97f02ab17ef0 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:6bfcb8c0-fb65-40b3-baad-6d5ffb523deb phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:ae5b7c34-7637-4831-ac2c-55e08afa0fdb phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:9766ac5a-6ec5-4245-ba3e-42d9deb94c4a phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20799361 uuid:b348dc2d-09f9-4774-9985-1fcf1f5ec5ee phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:20799361 uuid:41295986-c2e1-450d-ba09-683472979ffe phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:20799361 uuid:9c48a702-eaaf-4445-b2ca-be253168b20f phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0004446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:20799361 uuid:43cccf31-7372-4686-a8a0-d8f667a29e93 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:20799361 uuid:c9e577a4-21c3-4a9f-93d6-c10afc1354b8 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:20799361 uuid:1f9f28c6-208d-4adf-a530-43875f790322 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20799361 uuid:f3bf7dc1-21df-4495-9ff8-a03a6d954678 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0004445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20799361 uuid:ee360cbb-051c-4c7a-acb5-c7ed3975e595 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20799361 uuid:357bdd8a-707e-4acc-a1f4-1e0a5270542e phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20799361 uuid:b7ec9209-435e-4022-a25b-80fba4cefc93 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20799361 uuid:a58bf54f-20b6-42ef-89aa-2cc16e7eeffb phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20799361 uuid:02f92044-7ed4-403e-be6d-67a376862e90 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:20799361 uuid:250ce0cb-27fc-4bad-9f83-057df296eea0 phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20799361 uuid:f91704b7-818f-400d-a550-a8a863819eb1 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:bd04bf7e-eb82-4009-986b-6965662f8742 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:799c027a-00f4-4988-8bb0-da7f525f6e1d phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0000980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:ecc818ba-91a4-46d3-bd1b-fdd52d27b690 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:3b41e98a-55ee-414f-9b88-ed2eb9ee9717 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:c49bdf8e-fa4f-4a82-9744-a03665faa115 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:172ce4be-525d-422b-85cf-87ce8a5bdde1 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0004918 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:f29226a1-0e62-4011-bb50-fb9eed00e064 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:fa54a73b-6b99-4605-92fe-927716dffc0c phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:344b8099-52ce-4428-9b01-a2c83901bf17 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:654725aa-8f51-4ce6-856f-1380faa386ac phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:e4482925-122a-4272-a0ca-a75a72da6ad6 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:c934eb88-84b5-4156-ba95-08e95ab8921e phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:9854053 uuid:c3681a9f-130a-46f5-ad09-d27550f28a94 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:63a4a13e-3551-4b85-92a8-14049ceb8f7b phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:ba8935a4-9069-45c6-971e-d17a7f47bcf3 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0004446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:42b4d807-b7ab-4cba-b9b8-6d84d867f30a phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0034609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:4442fe99-ccc3-4496-950b-b3ebded95133 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:a5becb6f-9721-418a-b78b-cef4bf041b3c phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:2cfaf461-4a15-4241-a3a1-4d582c7b60c3 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:883e2b61-9c9d-4240-9aa2-5eff83a38615 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:c584de38-074e-4bb9-ace3-2f8804ec739d phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_phenotype HP:0003265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:e13536dc-46c3-499e-8e51-0105ee9c16ef phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation P3Y6M infores:phenopacket-store PMID:9854053 uuid:58cb5650-c574-4314-a45b-78dab9743e43 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9854053 uuid:88af7c2b-79ae-4595-922a-a414674ad554 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:3f574f90-0c5f-4b8a-88d4-6dd62bd5b7a1 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:1c93c7cc-2e8f-4ead-8b95-df621fe81b86 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:62640b32-6ff3-46c0-bac2-cba43692cb7b phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:309786dc-1e0f-47a7-a3ed-077854284142 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:357e642a-91a3-4eac-b7fc-b11c927bb06d phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:c7399532-d626-418a-84d3-fded322f1313 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:bdd8896c-b4f9-4d45-ae59-bcd84803c659 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:aedbe812-1f81-4038-958b-6f03ee548807 phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:a19bad2b-f4f7-4fc3-842f-f550323f8e1a phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:d20706a9-ced3-4e05-81ec-175685f3d6b9 phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:ebd551f0-1aa4-47e7-ba68-9c690f9a3e6d phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:bd795a27-9381-4714-82b9-70914916dd03 phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:906a7a63-4a7b-4be9-8d0c-2e669b09f64a phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:40822ebb-9313-46c5-a792-e66851acb46f phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:a8208f31-51db-4907-8184-f95fbf356306 phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:b23dd5c7-2edc-4ac8-a771-574e14e8db2a phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:22a7c855-2513-421a-8b15-fb6064f2d431 phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:78130157-3a10-4911-bff5-f3b86b7f15b6 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:c7ec6fd0-13c5-475e-a4ca-8d09c781cc39 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:9ef4649e-ebb4-4134-9c9d-3ca1cf1b8750 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:76ae6492-7ac5-4260-936a-88453488b1c6 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0004918 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:3f1f9370-93be-4c95-9324-4349322615ed phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:8dc90696-7062-4179-b10d-e639cdcf4e30 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:4810210d-c30f-4820-867a-ee1b8a547b31 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:965fd574-9fad-491c-bdb1-da08a29009df phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:b7e73f29-92b5-4c09-a55f-80652c343f22 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:2330fb87-f06b-4dbb-ad3a-b54e27176286 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:9854053 uuid:6e2c3e04-9749-43d1-bfc7-86449e46e25f phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:2f3d9077-7c12-43b1-8c47-8f681a654921 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0004446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:31c37940-2d8c-4412-bcec-d3ccf3a0988f phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0034609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:3a9a359a-b358-46c4-ba8b-f35d700e12a5 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9854053 uuid:2c4c6a8b-1fc2-4efc-8832-d48d36dc3b28 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:8694ba88-5133-4648-9570-56fcf5687e9f phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:36be0f95-75d6-401d-ad05-841a6baec161 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_phenotype HP:0003265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9854053 uuid:b1b8dccc-c411-44f9-8a4d-f5db18e2e432 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:9854053 uuid:bce60347-753d-4adf-8b3c-ce198a089c49 phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9854053 uuid:dd3ab39c-e976-47d5-8a33-150c00494030 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:a17a4bf3-5ee6-46e0-8d2a-7225cbf3a5c2 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:ebfc2816-56cf-4c8d-b27b-686befb2eec0 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:66476d4a-ebd7-4a6c-947f-5083da6ccf97 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:6b8710ba-bf52-4ae7-8eef-a3bb20d59a9b phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:d5fed73a-3fc2-49dc-aa70-6f5c8ff243fb phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:9f9198e0-5103-4e9d-984e-b43c7728b6f4 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:8505c2d1-2bc8-4399-9457-a9d94642d072 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:3a7fe983-4389-4952-8865-22caabf5fbb8 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:f38a8a86-1d04-4256-8a77-86bc6e461d95 phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:1e0c7642-393a-4c03-b793-2af123770037 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:81c65d2c-faec-4829-b213-5490f50a5471 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:e2200493-f086-4fba-aa0d-55b3229b793c phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0004918 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:0c49faeb-ae73-4875-8ac3-f54da69acc05 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:86554270-ff58-47fe-9713-c3a4e70b928a phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:45019509-3fce-476e-9ff4-4aafc28ad784 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0004445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:29db1d28-792e-41b3-9124-48eb915118bf phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:0112b23a-c43b-4a58-87f6-8154c7bf06bb phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10571775 uuid:72f2c211-d5cc-4572-9cbe-497481c6a4b4 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10571775 uuid:41489595-144f-48c3-81d2-78fa59f70c45 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10571775 uuid:564c5937-52fd-4950-9197-af707cc569a2 phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10571775 uuid:4120924c-a03e-46c2-804d-1034a525c4e4 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:10942416 uuid:9b011015-42d8-4826-a262-2673216c3eda phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0004918 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:10942416 uuid:06a4fa94-a705-4021-b44e-63e98bd37aa0 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:10942416 uuid:f2d19ce6-b748-4e83-93eb-4a14e4abe820 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10942416 uuid:f2302a9d-61d7-4931-9644-cd4ba2356122 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0001541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10942416 uuid:ab11cd2b-0a0f-46f8-a5e7-56ec7937db82 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10942416 uuid:ebe4c188-b21e-46cd-aa06-207ce34d30ac phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0003265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:10942416 uuid:c804f96b-478a-4ac3-a797-a4054e0a3beb phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10942416 uuid:d5e2e52c-93f6-4038-bbae-a0bf33d45889 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10942416 uuid:5d58dba3-d93e-4712-bd0a-e234168882b4 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_phenotype HP:0031033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10942416 uuid:09078204-46cb-4e90-89e9-016286fadc92 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_disease OMIM:611590 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10942416 uuid:b35484d5-25d1-4a05-aad4-e3a4774b6a29 phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10942416 uuid:57cb4c8e-8c74-4b1b-a34d-26ce726861d7 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:4d89c1c4-2534-4bbd-b2fd-1b477bc784a5 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0004446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:3e33f73f-7512-48cb-8f7d-d7969b745120 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:ac2bf55f-fe71-4880-9a94-7b09b066f4ac phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:60f108f3-44d9-4a69-be90-31871b4eebb2 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:323e77b1-5174-47fa-9675-7cc981ec4e56 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:a4be7aa7-4196-47d8-bcc4-f59bbe28e1a4 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0001971 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:bab8ce65-bb56-46e1-9738-27cf1852b1b8 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0010532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:6b9b3813-1ff7-49bc-96cf-457dce2c7dc6 phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20015879 uuid:691a8437-ea4b-4d47-af35-f266b544986f phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20015879 uuid:6475af31-0fa6-4b53-b2aa-c9403ba1f97f phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_disease OMIM:185020 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:20015879 uuid:f91c572f-7e34-4f13-b7f4-3cffa3a6256a phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20015879 uuid:ff3a2ac6-83c2-4267-8fc4-f7519005e625 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:f45f87dc-f920-4a09-af1a-254a77384303 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0001017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:eafdfbc8-a5bb-4c37-9bec-1f2c870bfe3a phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0032106 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:c24c23ad-fc8a-44b7-bf3d-a4954c608269 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:70501de3-45f8-4c23-b1da-30810364a987 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0011273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:3a265558-c104-42bb-ae1f-4421c974cd3b phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:561f29a3-f753-43e8-96a9-cd596a728de7 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:13992983-14ee-43aa-ac64-8809f3ca97e2 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0020181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:f3951a54-7036-42c9-8b99-cea6e11c42c6 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:48f338eb-e10d-49d7-9703-0cb4d8333bb4 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0025406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:950ee238-99b1-4f7f-a499-a5f81eed20a4 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:5f9946e5-9495-4089-a801-bff59649ec1b phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:b34d48d6-9408-4360-81cd-ecc65239c3a3 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8704215 uuid:fbfe50cf-34c4-4bc7-8723-30345a59635e phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8704215 uuid:35e28526-f466-4637-906a-4e9deeff74ca phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:8704215 uuid:77d388ec-f2ce-4730-880c-f1efd8020143 phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8704215 uuid:522c32ee-dabb-4f3b-8a31-27c4539d30d9 phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:8903da47-e822-4d48-b54c-a11c25d232bd phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:aced07e5-e804-4190-9c6c-1f72d48b9926 phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:b2484465-bf20-426d-9ed6-edcdae57cce8 phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:4d3e33be-b640-4dc6-b54f-11da108e3e6d phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:cbbabb65-00ac-4c35-8595-0e764b2aa93d phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:3aac38e5-ed06-4af4-a626-1c60e8e82009 phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:7a25a5e0-4525-4f28-9127-f9a96888f590 phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:b237b010-fec9-4fc5-9279-6ae825953612 phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:44133e53-512a-4e7c-becc-65d5c9da2bdb phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:cb4c4699-bd9b-49c7-b6bb-e169f222c485 phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:335f20db-88f3-4d6a-aa58-f4ca2cfae6ee phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:3f13f1df-3955-4f63-8def-40ea5764ca38 phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:16fddbe7-af8d-4fa1-8f31-f1412d2e4cca phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:5f3b9d27-bbd8-47db-86f0-35a323729d9b phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0001081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:792fd554-5f59-4c55-be52-70262d231051 phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:53f50385-000d-460f-9dd3-ab2946596c3c phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0008282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:e979833a-31e5-4f01-972e-b224dcec46a1 phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36463227 uuid:ad34b231-37ff-44a8-859e-d0f2e0e9464f phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36463227 uuid:9396a492-a8cc-4726-b8ff-8a3e92c620d4 phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:36463227 uuid:47572f30-bad5-46ee-959c-4419438cdd1b phenopacket.store:SLC4A1.PMID_36463227_case biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36463227 uuid:aaff0dec-69ec-4ed2-a6d9-19c2cbf76383 phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:22775a92-91bd-4dec-b2a5-038122610fbd phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:8ab8ee0a-cbdd-4469-962e-663963a55025 phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:3fc4fabe-5753-44a3-9854-2cd9e5f86fdf phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:6b8ad893-a4f0-4554-ba51-15d863b904c9 phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:672959c2-a961-4049-8a46-dded136960ee phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:2a1cfe2f-c125-468b-8e80-d106e3ee3d12 phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:3f5c9bdf-6f9a-4e7f-b35b-1e10e810f353 phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:4ddb9478-88f5-4c27-8a3b-d7cac9c9d0c2 phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:925465d9-b67f-402b-a572-af4641e439e2 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:aa3d03ed-36b6-4a92-a493-7ce6fab9b0e3 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:79ae7939-9ddf-4a2a-bdcb-56d80fa87034 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:f66b463a-bd80-47b7-9ddf-3cbbe34c3207 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:cb7ef7e1-9b7f-46b7-a385-53eaf600d859 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:1fe795bc-9097-4954-a4fb-91a185616d08 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:88ecd4a1-a467-496a-ac9a-69f24021fd6d phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:5aeece90-7d08-4542-b325-6d8635d132c8 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_phenotype HP:0011042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:bf1fbeec-407f-4c49-8b7e-3c9a9e874730 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:0377ebe3-a105-4241-a467-ef1b0eaac798 phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:4ff41279-38e8-4453-a6b8-b135a55ec495 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:244680d9-a61e-4221-8760-bbb8b64f2392 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0032066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:bacc0471-b7f8-47a8-a007-a18a5a793a06 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0002900 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:fd503525-0512-4f06-a13b-4d0658dca020 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0032944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:b2378f32-9f2b-4921-8872-6a1448200998 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0004727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:7fc68ea2-262e-4332-9237-d1d1b4d089e7 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0008341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9312167 uuid:08193ae7-14fa-4024-aa04-1c014c015926 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:603ce9c8-3e8b-470b-a3d7-d6795b46a56e phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9312167 uuid:cfcb064d-d5c2-487c-84d0-2b70031f2b03 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_disease OMIM:179800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:587fc746-c87c-4a24-952c-83f1095a4f19 phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9312167 uuid:5c42b840-4c2c-41fb-845d-4ede5c92a0d4 phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:b57c9452-69d0-4cde-a788-3162d43ff2b7 phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:51be14be-bcf8-4579-b565-0e99c6e8a4f5 phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:3187f115-d0fc-4a00-bcb7-3d77a1999bcc phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:f14bc7ee-3990-48ea-80bc-a08ed19b8d03 phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:aa4bce80-247e-42cd-97ac-a40a6da441fb phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:2ed974a1-143c-41f5-bd06-911cc0acbc8e phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:6070b20e-a1ed-4804-b1f5-502abc35dfb3 phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:c7b219d6-4423-47c2-8404-afe261878f83 phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_phenotype HP:0001878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:d6b04764-14d6-45d0-afe6-881855bad1e4 phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_phenotype HP:0025066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:a919b6a9-1f9a-4f8a-9392-ed82015009bc phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_phenotype HP:0004444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:958d59cf-ed2c-45da-bcd9-2a9e20882ec1 phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:59324cc6-bc7c-4354-8dad-b3145475f1c3 phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_phenotype HP:0005502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:6736cc5d-e8f4-4502-873f-8b20368afdbf phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8282779 uuid:3d490df6-a455-4def-9751-b3e4bb8c53ab phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_disease OMIM:612653 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:953b661d-beae-41f7-8efb-a8c693be3d5a phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:has_gene HGNC:11027 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8282779 uuid:4b354acd-a039-4741-92e6-824a0ad9be59 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:76f144e9-6d76-4dad-85b0-1bc09f9f0b5b phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:abcc437a-7478-40a6-84b9-e8afe269beed phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:cd706bb6-6905-4111-a93e-3b35d02bda12 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:43a8bf51-7b1a-481b-a96f-e401b8717026 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:8ecc90a4-6475-47f4-9a09-7b298de043aa phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:c95d4624-572b-48fa-bfe2-c80c68c88439 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:328ce2bf-e3ea-45e4-ab6e-2ca5c53d168b phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:33c00eb4-73f4-41de-b95b-03fd227212a4 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:309bafbf-2722-4f8a-9777-812c9ef4e014 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:6f775d97-95c8-42bd-ba7e-a13e42f25696 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:9732d543-66b2-4539-9068-bebb516d44df phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:bf6a68e8-5aea-448e-9a84-609f23fab745 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:474c9941-56df-4c60-8ce1-821b576e40ad phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:7cc8575f-9598-4937-b332-e6431367f542 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:30577002-2d19-4985-9809-a54f4fd1902b phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:d1eac890-7fbc-405b-883e-0b5c6a62a6f7 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:0753df56-41e7-416f-b13f-9b3905251014 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2fbb4300-7f7a-4687-8ff6-edd9f6ae5e91 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:bf7933ff-2f6a-4fe2-8ba9-b1213880a47e phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:ed085da5-6268-464b-ab6a-e21c8ce5df83 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:be360139-8e65-45bf-b138-77c41e3017ff phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:dab8f90c-d9e9-4161-a5f2-ac694f51d5a6 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e2bdafd7-32ef-45d8-9795-697a6899ce55 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:9e69b55a-e991-4087-ba9f-7cda3bbdd734 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:6bfc01c0-ced9-4fa4-8df5-bcb770293263 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:1de11b8c-1884-473c-9453-352aeee388a9 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:e00d57b1-7e64-4f7c-9e38-c02b9aeab23e phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:b74bc7b6-d885-4940-9bbd-f31b9392c7d0 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:5440965f-7609-4081-beb2-49ba9a87c937 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:22f87056-4120-47f5-9c92-64ed108d7b63 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:c5d1de58-b793-4fe9-99a4-e3a24c7d7c02 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:48982976-c206-4df3-86e9-53bb07e9f6ab phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2de89e36-0e7f-4038-8fc5-f07e6c15b7e7 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:a3edb723-cfdd-4451-97f8-02028c98c1ec phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:a3c03cd6-28a7-44dc-b97c-4c18c920d18c phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:db511cfc-bc68-4f67-8645-6051c0d1f302 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f4b06ff4-6e0e-4c37-90d0-1d7932fb55bd phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:acd7ac2c-8813-4736-899a-f8b8b3401fdf phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4a533402-9e8b-4a40-b413-ceced37642d2 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:25a7c1b3-de09-4770-90f9-456ad7f415c2 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:b1a1fff9-4528-4841-9b48-660b39901dcd phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e9a123dd-d0be-4e0e-a21a-046fd1a49a2a phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:10e359ca-a987-4677-b685-2b7cf768189b phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:d0000808-bce6-48e3-a7f2-0d174efe9a27 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:84f99397-eabd-4a57-9acc-6e67b47a0f38 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:6c907782-630d-4ee4-911d-97a4725c4f95 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e8c1b473-3105-43e0-9ef0-7229b31c1fb3 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e72dd2b6-16fa-4c55-9f5c-ea134390c052 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:c84de645-9c34-4531-b292-99785ff9aa5f phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:d03189dc-c23c-4344-87eb-c2428edcef65 phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:d98c5e19-b000-4987-a4ad-b32dc62710f6 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:51974141-7afb-4ee6-8373-6392dc876c90 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:af59969b-98fa-41b5-8b82-d5c9ee51b2d9 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:cce8cd59-74b5-4245-b3ca-f17b166429ec phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:b013f4d3-925c-4109-b63d-693c21385e4b phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:bbefa9aa-2d73-469d-bef4-3780ac995052 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:eccf97c8-d219-4aab-9b26-e5005a9f6da1 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:132ce06c-c65e-444e-a3ad-d5d0c7e6f6ee phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:61853a18-ffe6-4568-a54a-60f54d714240 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:cbb6c9dc-9918-4aed-ba0b-67b9ddda4e82 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:debf1000-959f-41c1-82f4-8286904fce97 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:780916b8-94fc-4099-875f-48c825fc242d phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:45e87278-d9ad-4023-ac72-a5c5b6b6d3af phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:42796e37-a9a0-4b7e-bac2-7c6536c9d0d7 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:d4a0ecc8-5b5e-4c66-be89-40aca695d571 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:eb01be64-b836-4604-90ee-ba721fd7ac70 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:65ab642c-d010-4ceb-b56c-9d57a4a6f1f4 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:9fb36881-0a0a-4120-b409-36d28df2a6e6 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:0091607a-e7a8-4732-865c-eac13d13eefd phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4d9cbb65-4559-4f8c-8a83-9f5711b2a64c phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:aec543bc-4fc3-4a11-a847-3749e5ef5a25 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:fab4dba9-153c-423d-ab6e-b31c8bd1ec04 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:91dcc953-78ed-4fe1-843c-e3a76296be55 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:b41813ac-a509-4a72-b3d2-a30bf91112ff phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:da523f03-37cb-4c45-af5a-e17cb6ab8bd1 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:ad18d34c-2757-4642-bde3-472a66ff7fa2 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:4c3d2166-0812-4b1c-af73-bd877b23ee1f phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:c5448f74-6789-4763-82a3-86730e2a69f3 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:cb368723-0503-434b-8e56-3db6376d4761 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:e13c256b-a010-47cf-b5e8-752a7657d79f phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:a027586a-f1f5-418d-a158-e706793b4b29 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:be0f837f-0ac1-4ecc-b7e4-be31906dd6e6 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:2a36b4f8-e2f1-4a43-8eff-fbb3fe7d6969 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:c3ea77c4-0f85-426a-81b8-548050cde5be phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2ab5f1f6-5ca8-43dd-b2df-04b1831ee9f7 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:0e34c368-8968-47b3-a340-ed92c74f9133 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:6588c053-f4ce-4c48-bd09-88883b34b810 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4d7d1b54-2ff1-4552-b590-08305d800444 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f2b93266-b3bb-4de8-866f-cb766dc8e570 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:c4a3aaf6-42c4-4890-b405-5dd929c62ee4 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f31e9989-db4d-431b-b65b-9803bff6fbb2 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:3519472d-e652-4ebd-aea5-9db8f7cd9986 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:edc175b9-8f34-43d2-b07a-f2c5e9975260 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e38f6eb9-75bb-4650-89ce-9a5fd4bb9926 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:79538123-2b9f-4e1e-9e00-788c3573381f phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:3a2b879e-f561-4506-90d2-dc7cae9f54b7 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:b1b12400-ca71-4344-84b4-2e4b62d8406f phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:a3457deb-af45-4036-8033-22518849222b phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2deb4747-b407-42bc-901d-939100607ef8 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2e7e2053-3245-45af-b3e4-652d63f17ef7 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:03f7ddf8-431f-4448-8843-11d20f889882 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e4db8009-247b-4e40-89e4-e0804a210eec phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:cc0e13ca-babc-4dda-9629-86ee3beec198 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:ae96f2a0-eed9-424a-9121-a43ae170ed4e phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:23bc3095-cb42-46aa-91fc-b9f02c977951 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:4322034f-a929-4e71-bf3d-2af5683e3b6f phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:276660e6-dbaf-4925-9740-6aac1b87f817 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:85b9dd1c-5d65-4bbd-80c5-d83fea33f06b phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:e3348859-f795-4425-bbe3-24fc6516c17f phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:799254b2-388f-4e5d-a166-a50cb64010f0 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:946d4064-c550-43c7-9e3c-21781029ed59 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:126b2a04-431b-46fd-8cee-1970ab3d467c phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:fb63d84e-ddbb-49b5-9a8e-c8181a2c5191 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:c4f10baa-12f2-4743-ace7-d5be302832ed phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:5ca24b3c-604d-45b5-8c2d-57bc41cbad83 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:1404325e-9467-42a3-b6b9-8b6f11e64964 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:edd8d400-0ece-4d40-ad16-bd1e6b8e8f1d phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:0861092a-42cd-4d9c-a6ef-2b5abd726a72 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:6ce2df28-f84f-4a55-bb99-c0342d8c6418 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:3318d2b0-2010-47f2-ac73-63415d69b5bb phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:1a2dd6b1-1288-4653-b16d-9fed530526ac phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:eba38ed0-f51e-4588-b621-34940cd54cf8 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2f3c8b99-8e0d-443c-8742-3bbad15ad3e3 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:3cfac2f3-8754-4a1e-8598-ac914a1b01c8 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:73c8cf95-c9b0-4eb0-ad8a-71442f3d71e8 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f5153eff-69e2-490e-b47a-af362ecedaa2 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:af75c18c-e88d-43fa-81bb-16bdc41da9d2 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:a1708d86-1398-4ccb-8e27-a82588a6d965 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:d8d3f26e-5a06-49f7-bf88-856a0d430cf7 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:a2d292cf-5737-4ed3-ac92-a386c3e9486c phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:bf0b7882-d50f-44c9-8e1a-afdddcff5e33 phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:b8281216-6fd6-410c-95b6-77fbd67c0bc7 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:5af53818-ef3f-4c89-b0fb-74fbcd6258f3 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:40f3f6b3-6bed-4e87-b1ea-95048df5115c phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:7b026a97-6a73-4ff2-a08e-53603b37955c phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:4a8537c4-377b-4535-927e-3e0a71093fb0 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:93f1c13c-ea10-42d5-84e6-5913e0a3d1d3 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e7cbc726-d017-4d1e-9d6d-1140717a7809 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f2d2cac6-a61b-4c12-8d21-8d7e4d7d8c56 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4b581a72-b736-4e30-acba-b71a91df1ade phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:1955edaf-2cf2-4b4a-9e94-0fef74a0715a phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e13982db-ebd7-4455-8422-eca516b4f97d phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4420e177-b21c-4ee9-90ad-4b139513a316 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:38051c58-7798-43e3-9de7-292293c7ed66 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:fff3ce96-2caf-46ad-bd99-601b0162bb8d phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:96fff561-1710-4068-9822-dae8385c3188 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:de9ee18e-b78a-4ec7-ace3-c0e072f144e1 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:9ee45db3-3766-4b91-8c71-c964d06eb26f phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:ea61dab2-06f9-4175-8cec-9f9519d365f2 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:9749ac69-d74e-4e93-a1b9-29fd8193fcb8 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:bf7daf6c-d4c7-47d2-ab2b-6d1a81149d83 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:595ec183-efd5-4372-b355-def1a8c4f9b5 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2a155e3a-7b61-419c-a230-306318621139 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:b4533ab8-de87-4c86-a7bc-a9c78ad519b6 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:f5ccf701-117c-453d-82f8-22dcfde72a10 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:c4d904d6-10d5-4c18-9578-7b47e62a3f05 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:ea3bbec8-86c1-413b-a0b6-28a28ba2a636 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:2b5c0b40-86e1-4b70-9c1a-2ebd5b690f4c phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:8c0d7487-e442-4844-88d8-3069bd853f7c phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:00da7aff-782a-42be-b145-6bad1ae357e6 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:ff8a8b68-239f-4131-8f3d-2201f03f88a6 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:72439183-0c0f-49cf-aa2d-16b780b5da0a phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:a371dbd9-1e9b-4bc6-a845-ad74ad76b023 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:58f844ec-1537-4c04-baf1-450848acdccb phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:e6d5e8ab-9374-4371-ae01-524c91515bfe phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:8eba719e-d0ac-492b-b36f-634c7069f37a phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:d2e95d0c-5407-4970-a7ff-b217c46b3604 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:e304f2d2-379e-48c6-9cad-64e2c4a71bb8 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:d8041839-47e0-4a00-9bae-9de1706eafbb phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:982d37ed-33de-4bc4-a468-ef6e289663d4 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:17f9f99d-ca82-403f-ae69-543556e65280 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:be869583-7a29-4f51-bada-1c3bc29fc8d1 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:68459e19-5e6d-44e4-bf0c-f11159bfc16e phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:c39aa577-5c86-4a92-979f-7dd7959c96be phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:e68d23c9-354f-43d8-8add-941771a0765f phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:351b29b3-8279-4251-9e41-007b9d631a0e phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:a303926f-a02e-456b-82f5-fb99cea6d280 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:ea2ae17e-0d66-4a6a-a8e4-26b91718b478 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:5d619dcb-9fae-4275-9f7c-b0fb952dfa0e phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:c49d5306-a065-4998-86b1-41e2aaa2768f phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:d00a87e3-1de0-4737-b76f-c089819d70bc phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:bca1e679-c724-46e2-b048-7cc90c0b0c4d phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:6ea59f52-a6f0-4326-bad0-e413db3afb19 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:c12d8cb4-d18c-41d4-9493-ce8d1326634a phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:8309377c-848a-4e02-a6c9-36963d691699 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:86253305-a5ac-4a66-a451-960b000ca319 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:0d76fcaa-1d6b-4d4a-b3e4-c25428489898 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:89deaec4-52a3-43cd-8984-c72755fe45ee phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:d06530d5-dac1-4ae6-9221-f30ec7b9399d phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:6b126403-380c-4811-ad97-42901dab0f25 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:e8ff7f4c-625a-45ba-bc99-e60018751b29 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:fe6a7f81-8abc-4cf1-a8f1-67b4c43c23b9 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:11bd1943-9285-4830-bdc6-c2183296d7e2 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:74505699-0c88-4011-a33d-4eab27dc008a phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4410789b-8db5-4570-9288-0496de26caa1 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:59bc33a2-0e63-4161-978f-ecf4e7709443 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:3a686721-f473-4770-bae6-3e4d1f69f17b phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4add0b1a-bcf2-4879-8e39-2cf392e50407 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4f9c34ea-cb89-4c54-8faf-6b83e813173f phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:aca518d4-1889-4712-8746-d39656341eab phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:6fe841d9-9729-42aa-9d79-d2237662344d phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4c19c25c-1d5a-4076-a94f-289a5d7744d3 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f443d45a-2db6-45c7-84d6-e553a9eb2d54 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:08e5404d-db37-48f9-98cf-353c857f2316 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:59494567-faf2-4f9d-83f2-986df156c39c phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2e2eda74-9a45-435f-9388-ea7abf658919 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e4905483-ed6e-4f75-aa72-5427912aa6a1 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:06c36b4d-2778-445f-8008-27db4c659b6a phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:68d7ac2f-4544-4aa5-8c84-9ec57a2973e3 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:16a111c8-3369-4833-b721-70abd25eaa50 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:3684bed5-7e43-4bff-a764-65b967c51a2b phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:32eec298-a815-400a-a6e6-3de562dab571 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:42cb62a9-f68d-4314-903e-01f933c4cede phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:420af8dd-7b8a-4172-859b-82d9ab4be3be phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:5d829f94-1986-4404-9505-91dd4c8ebcf3 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:b4c4dde4-f601-44f7-9f32-0972397856c5 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:545f81f7-b587-4189-af88-0e93180562ac phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:c9183734-0901-4b6c-a753-e9d8b084fffa phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:3910c546-07af-4145-9791-b4ac5902f794 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2c26be51-dcfb-41d5-8217-fa9dd207439e phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:b2e45069-e202-465b-a3f4-bd25f000230c phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:5f706c5c-af3a-47b4-a5de-f9a0b6711ef0 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:5e6308e3-3274-4c18-8742-1a6c32aa5b94 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e10fa638-5a1a-47aa-837e-90d0b42b50d5 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e062789b-0cce-4d3b-af2c-7bdff4817845 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:76fa85a9-349d-4624-b2d7-49a722c7fd9c phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2cb6a334-b8ce-491d-af31-da725e35e779 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:387b15b2-5beb-45de-a1a3-764941dcdd69 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:0463c233-410d-4e6c-83da-d4b32f7da690 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:fd9964e6-08b9-446a-8dc3-1ea71cb0dc0e phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:bafb7bda-759d-4ce5-a0b7-cc6afdd453ca phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:5640f034-cf15-4c1c-9ac3-b7949a22252c phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:62b2317a-953b-4359-8298-e7954373f0e6 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:ecec7a11-eb4e-4371-9973-25a12a39b3a3 phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:cf389c11-e684-4e8f-bb3e-56c6355b22b5 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:9c1448d0-2d1a-4813-8cd3-43577ee5be26 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:8d6412b0-5807-4005-92d1-e17e1a81f507 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:f1be5356-b3a3-4a72-9d1c-cae4138c80f6 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:e78e1c79-3416-4dca-a949-00c30bb467c9 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:3a5ef134-ba56-49aa-8cd1-8640baf6ad17 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:272ae52b-81ae-4f0b-b894-38faa787cfe1 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:1d796897-eb99-4b47-a2dd-44920162481e phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:ccc23584-ae8a-4379-848d-f9509f1b8d19 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:c3ddd66c-75f5-42b1-9e97-fa93e2c9f995 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:fb24436e-4f1f-4113-8897-ca094573c03a phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:6552ea3b-62da-486b-bcae-46cde0bfa57e phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:ac7f1533-202e-4b09-93ac-6c12de03e83b phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:44ab041e-aeb4-4a2a-a777-ec15def06666 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:bb9e9677-46e7-4580-951a-4628b3000065 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:dd3f9a85-ee07-4070-9392-506914551ac7 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:2a852ed2-9bab-40f0-b3dd-79476d6a0efe phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:13214afb-28df-4231-bb54-869ed41ebb23 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:74face54-42b6-47f3-8a77-ee75ff352d9f phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:f2eb0d0b-b6e2-4756-9bd3-80dcd924a7f6 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:843f4f78-ed2a-4834-83e9-dbcf469d5b03 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:b79b4e9e-c00a-4367-aaf0-d50f5c20421c phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:adee5a1f-663f-44a0-b755-f98f2a99b988 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:e755a61b-a8c3-46f8-a67f-bb7990ea6b4a phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:cb4a7317-a232-42f9-87b0-966222d738a8 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:18eadfc5-7763-4a88-882c-085cf18dadac phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:84487aa6-7812-4fef-a08a-1d5f7dab0636 phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:8c67bbee-e6ae-454e-923d-80548f96de5e phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:3a83d1c6-84c9-469c-844a-e792f4d1d207 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:0973b035-9a22-4aca-87e6-caaec8757383 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:3fc13e70-1a27-42d5-aab9-08dbcd822cb1 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:efeda0c4-8c00-49fe-a77b-b6ba64dfc56f phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:33f25a87-38b0-45a8-a2d5-88f06ed02ede phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:36e354f6-e8bc-4f54-9ad9-0b6e043d4684 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:6c68825c-bd88-479d-addf-ac3802a1208b phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:96115ca2-7a1f-47e5-83e4-bad343e82ce7 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:f2b360ae-18a3-44eb-9457-e1e9137e24cf phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:cb059e6e-1726-4b80-9e67-7dd663d38073 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:89188db5-4893-4824-8671-10fd200bc349 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:61b6ed92-7136-41d2-8af1-d3eac975c4fb phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:db5bf05f-0883-4e32-9d82-df25dd652d0d phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:750a8431-41d0-4f87-a0d6-1e0ec14a0e78 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:ca9920d6-73bc-446d-9cde-bcf10d8754ec phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:b6b6bf34-a367-413e-9b86-663153c418bd phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:b2fbd6a3-8a80-4dd9-a70c-a4830ecf460f phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:834a0f8d-cf57-4e35-bfa6-2ba9dfb07f06 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:cd5ccc12-c1d2-44a5-bffe-4e125a18e9c2 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:0e92755e-30f6-46fc-aa79-155eab299d67 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:56cae2d8-0a0a-4a34-abc8-e432ef320ad2 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:8e3af618-97c9-4ae3-a6ea-5427cf3f0acf phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:c00b016f-6d45-4c07-b4e0-fbc17725f062 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:a69d29f9-0a1e-4394-afbf-94a711874963 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:31db4457-5d54-43a1-9b2a-ffbc256f82a5 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:2f52ea69-ab55-47d4-bcb0-19518d502aa9 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:c827eefa-d515-45c6-8ed0-fea011b325ca phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:7a1320fd-1968-4355-9296-86f813775abf phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:57934447-1c49-40da-89c2-8fc460b6f530 phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:5e49eafa-fa06-4bba-bb66-500798654b53 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37459438 uuid:ce6d2887-2527-46ba-b7d4-d4ebf1bb89c5 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:ddd9806d-d80a-4a43-81c2-ef2402612d49 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:ca2e70a4-42fb-43c8-8a01-a745100a40ad phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:e6bb472f-1e9a-4f9f-ab3b-f1c1563b5179 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:4e0267ad-d1e6-4842-b3b0-4786cf494ca6 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:a67efbca-66ee-412d-a58c-6725875b4aed phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:9b6295eb-8f40-43fb-b2ae-878ee7b72cc2 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:c984c554-ae7b-433b-b8ca-e548af351c34 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:4f1c61ff-7895-4cd7-ae21-10552b30a9c6 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:3caea830-c08d-4fb6-ba54-c48f4ef27d6f phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:8e26bc28-0b9e-4877-a502-60812f8d932d phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:aa908906-735b-42f1-a834-cab16d15da2a phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:6f9a3b35-0531-4337-bb7b-915c4d9fe161 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:98936ffc-29dd-4761-90e3-7cb7d707ab90 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:117941e9-4533-48ff-b6e2-275d24f6a83c phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:f5fc8f98-953d-4e3c-a28a-357f9b480d7c phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:36cc9d76-c412-435f-a993-3f0f4246e768 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:fba6f036-6f0e-4d79-a9fe-35f75d001807 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:910b9077-23af-4168-9032-5c51251b3fb1 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:59d232aa-60de-4ad1-9c60-1304655b66ff phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:3c957851-d563-4a6f-8d77-bd56e91b9b26 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:95915267-17d9-490a-bac0-029d3ccc055e phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:480afcb1-8c3f-449e-9b9e-61f6fd6a5753 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:5c410ca0-ffb9-4a82-9916-2913635459fb phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:87620916-58a0-4711-86aa-f5f44e6bae7b phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:1ef92463-4f7f-43ca-a823-4a4691c51de9 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:ea2ae90b-0b40-45e1-8d12-b65aa216ef39 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:d8cb5607-faa4-4f2b-87ac-49aea796e8ff phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:81edc675-f315-4689-b9fe-039e5c425e8d phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:13913443-7a23-4c5e-b10d-35b82bc0aadc phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:b0823c75-179e-46dc-8e5c-531201e768ae phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:4d121d15-7aef-435b-ae41-681900572c6e phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:818a7bf4-7ac8-4746-9060-a5d04baaac4a phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:f1142c86-c736-452d-a389-a7b3b979854f phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:368ce515-5fd6-49ab-8000-0ee1c0123a46 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:b68945b4-6fe9-43bf-b818-35fa34844c48 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:8f5aa6e8-48aa-4d8a-b8aa-7a80fb522301 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:8c16c6c8-ab52-4b21-b8c3-ca5c4748ce11 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:89c50f17-053b-4506-887f-a3cd8fd4ff12 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:b11a6dad-9dac-4e27-b85f-1348756d3006 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:58dc7957-0fb8-46ac-b6ea-b3272e2267d6 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:1069248b-fdd0-47b5-993e-7284c04148d3 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:57246fc5-b790-4aad-ab76-8dd31ee47bf8 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:99385a6f-684e-4e5e-a73d-137b2ec124a2 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:8323955b-0492-4df5-ab29-bc7f75fe2c96 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:72a3fee8-63e0-4b8e-9d37-e93f373682b8 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:d84b4ec7-e88a-453c-b360-2335f6ec0351 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:43690248-e427-41be-9c91-258776d04623 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:06d78e75-a1d3-4c58-b5bb-40894bb60c5f phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:a74b8c3e-0b37-4cf9-8812-8f1bcff82d1d phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:090a7068-72d5-4788-9eaf-69e9b0524220 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:8e639588-13e8-4962-a694-d129c94862d6 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:4d62818e-3928-418e-ba89-070b24245ca5 phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:68a3104c-ce37-4866-b241-193ebdccaeaf phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:f40de177-4747-4d9c-a1a0-72dddc7030fb phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:37459438 uuid:f63547bb-645d-4d30-85dc-50e529c378d1 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:da237dda-c3b5-40c3-8c79-2ced58ac37aa phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:cb6d4ac8-1335-49d3-97d2-6e51f4645396 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:ced656c0-7a9f-4c24-8bef-1d29d83bd846 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:5c5d7583-d3b2-4cc9-ba42-03e91d599f22 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:f0223f2d-be85-41e1-856e-61c834c121e2 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:18e74cfd-cbd3-4248-9947-c7677fd51522 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:6fbb91ca-cfb3-42b7-b738-f0428791599e phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:19a0a608-198d-4bbe-9af3-29ff17a12c0d phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:daee6e72-bb44-481d-8c70-e664ab8ddcf4 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:83ebadc4-febb-4396-9614-27014fb4bfd4 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:9c0d8c9e-1635-40ce-8662-e3628899b303 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:a84c117d-f0f6-472c-a193-c6f82ac58a4f phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:079e74ef-8dc4-4b5c-9304-55d195e53590 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:7a802667-d524-4b5d-a254-bfe047ce111b phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:4136cfc7-e4b0-42ce-bcd7-a2dd55c13b7a phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:9942dbc4-8389-4828-b467-1228cc61d2bc phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:39ddd572-7906-47e9-8ea4-388394a0ce73 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:85954bbc-a096-42f5-84dc-16fa7eabc7a8 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:732fca82-910c-4ba5-b365-d0a5af446b02 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:61ebd992-61e8-4e5e-9336-034651a0f292 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:9fdae1cb-9860-415a-9896-e22288a023bb phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:64b5203f-689c-4b7b-a53c-ced7623d5d74 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:9a489804-5a31-4c4f-8129-2db42ba44e87 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:cfab4153-e91d-4ab5-9794-9e647ecf54bd phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:648f6298-c479-480a-a7e0-cfcc5e3161dd phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:266cb294-71be-4d64-9e0d-8674f18c0f32 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:a9be92fe-2db3-4401-b630-09a2fb12978f phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:d951464f-a79a-46b0-bd8b-676f10ad7754 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:ee98a6f3-fc46-41e5-a038-dbd88d2e10e5 phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:e98d72b2-6ffd-4930-b3ce-92c280f9bde0 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:0dd46ffb-bdd8-4357-93b0-a02fba8787fa phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:64222035-ad03-4386-917d-47667353ff7d phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:92799c16-3756-4007-908f-6d02cb5724d2 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:50e042d0-10c8-4eaf-995d-0665f38c9a2c phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:a977312a-8408-439b-8cb8-a09453e761cf phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:d167a7d5-1ee1-48d8-b9be-7f8aa2fc42a4 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38054405 uuid:ba1a717d-fda0-413c-bcad-5f6c7741f610 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:15b44697-5a84-4d3e-9288-b9174bff74ca phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:48ca0d2c-1102-4249-aa8d-35ecfc18bf25 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:77941503-f61d-4c17-b932-6af6edbbc1aa phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:ecbfb228-8133-422b-b270-fa7ef42cfce2 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:496657fc-ae70-4986-829e-15c360287608 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:215ca5bf-3222-4319-b7fb-89bb4334ed63 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:93d2e0f8-3dd6-4197-b4ff-7f36d5d1ac50 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:c5c29ae9-5059-4be5-9eb6-8580297bc27f phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:5ba45087-e6e5-40ed-8a0c-fe25e6ae27eb phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0100699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:9559ec36-9051-4d39-a949-39eeebd97c4d phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:7b82ad35-e6e0-458c-9a80-4e4e4b20a901 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38054405 uuid:0fe19981-9f8a-4ce6-9dd7-762ada451cf7 phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:33e4ce11-076c-464d-84f9-25323b4a454f phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38054405 uuid:6202bd38-9ef0-423d-a1a3-25f046740611 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:1c201fdb-124c-49ff-9dfd-dec4796487c7 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:2fd0c381-4caf-48d1-b818-80fdb679a218 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:e0747a4a-d893-4534-9765-634974b9c477 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:a23a9b2f-0c53-401a-b394-5c747c7d85cd phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:caff6268-0d6f-42d2-99ff-fc67c6f9650b phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:f619818e-2969-4723-8a97-a0f86281b23c phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:4bcf16bf-7446-4807-abb1-1150d657204c phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:01eefa06-5c75-4cae-9b8a-c07f313da55d phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:ff5db804-b6e8-4c84-a320-5ce121fe7b7c phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:06e6a189-c85b-46f3-8bc4-9bb165f75de0 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:ee58181d-dd23-420e-b8c5-240d0e9e90e8 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:911f5efe-77eb-4518-9cac-af27744c777a phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37459438 uuid:05bd4c53-a8cb-4114-bab0-84d55ea8a5f6 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:bd3957ae-395a-4bf7-8a75-03870d2f6bab phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:2e194cc8-7f17-4287-93ea-66aeacc0bc08 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:2fc0de58-f2ac-4481-b3f4-d100ad8f6f95 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:fee5922e-7393-4103-a440-a9f4552ac360 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:57d35985-3e6a-4299-84b0-d84f67661612 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:b364c240-66df-4728-804c-11717ef80fe5 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:9b5ae2f3-8214-4be8-a81b-a9c266ed24e6 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:52ae89c8-52ea-45e1-9f19-bc14b0203412 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:967f9cd6-4268-419b-bc01-d954af6a8808 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:f02fe278-a76d-4530-aa48-3ce4187922d7 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:6e887b84-8321-41d8-8953-adb1effd22d1 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:a9a9ce79-272b-4e8f-840c-71b63b3af0df phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0002812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:0bba85bc-d9bd-467f-82da-d1c20ee33aa3 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:62b7d725-b508-431c-a2e6-915e456fbaff phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0034677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:90459f8c-0759-480c-981a-34811ad82337 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37459438 uuid:17162718-0402-4617-81c6-12caf77f081e phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_disease OMIM:620746 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:37459438 uuid:869dd546-c267-4787-89d9-11a99b808817 phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:has_gene HGNC:13811 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37459438 uuid:faae3178-7786-4dea-914b-4c3b7c2d54d2 phenopacket.store:SLC4A11.PMID_25007886_Subject_4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:0482831d-4f43-4d51-8503-37dd88b563dd phenopacket.store:SLC4A11.PMID_25007886_Subject_4 biolink:has_phenotype HP:0012038 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:f2709fe8-def4-4bc8-8c92-5a4862fc7047 phenopacket.store:SLC4A11.PMID_25007886_Subject_4 biolink:has_phenotype HP:0001131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:9a191e7e-07ad-4ffd-befd-99b07a708f56 phenopacket.store:SLC4A11.PMID_25007886_Subject_4 biolink:has_disease OMIM:613268 biolink:CaseToDiseaseAssociation manual_agent observation P69Y infores:phenopacket-store PMID:25007886 uuid:f5460a76-3dbf-48d2-8731-579200d54ed2 phenopacket.store:SLC4A11.PMID_25007886_Subject_4 biolink:has_gene HGNC:16438 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25007886 uuid:1741c41d-b7cf-4df1-90cc-bc7116f893be phenopacket.store:SLC4A11.PMID_25007886_Subject_1 biolink:has_phenotype HP:0012038 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:821f045c-174d-485c-a2c0-6e27a56e7657 phenopacket.store:SLC4A11.PMID_25007886_Subject_1 biolink:has_phenotype HP:0001131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:b083b767-61c2-4c83-9f41-b8ab663e83e3 phenopacket.store:SLC4A11.PMID_25007886_Subject_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25007886 uuid:faeefd00-eab2-48c4-b5ae-b754dd4e113d phenopacket.store:SLC4A11.PMID_25007886_Subject_1 biolink:has_disease OMIM:613268 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:25007886 uuid:35381cd9-6158-46be-b5c9-91fd436ca750 phenopacket.store:SLC4A11.PMID_25007886_Subject_1 biolink:has_gene HGNC:16438 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25007886 uuid:14dbd9fe-bc93-49e2-90d6-26b5a4df2dfb phenopacket.store:SLC4A11.PMID_25007886_Subject_3 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:4dc7e2d2-1752-434f-bfa7-1d6196bcf9e8 phenopacket.store:SLC4A11.PMID_25007886_Subject_3 biolink:has_phenotype HP:0012038 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:2d89f8c2-5979-48b5-b1f8-02d12a015f4a phenopacket.store:SLC4A11.PMID_25007886_Subject_3 biolink:has_phenotype HP:0001131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:23f86543-2e79-440f-8f07-6620a1aa0330 phenopacket.store:SLC4A11.PMID_25007886_Subject_3 biolink:has_disease OMIM:613268 biolink:CaseToDiseaseAssociation manual_agent observation P61Y infores:phenopacket-store PMID:25007886 uuid:544ba7f6-b312-4b3b-a8b4-4fa202408dbc phenopacket.store:SLC4A11.PMID_25007886_Subject_3 biolink:has_gene HGNC:16438 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25007886 uuid:dc1b876f-fd0d-4b4f-9e11-3a34fbd4ba8b phenopacket.store:SLC4A11.PMID_25007886_Subject_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:802cad8b-9052-47ce-ad84-f4fa3cbe8ac3 phenopacket.store:SLC4A11.PMID_25007886_Subject_2 biolink:has_phenotype HP:0012038 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:7f38e97c-f46d-4f31-a666-7b8c2464ca86 phenopacket.store:SLC4A11.PMID_25007886_Subject_2 biolink:has_phenotype HP:0001131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25007886 uuid:2588a2e1-0403-4316-8d07-074f6fbb2f6f phenopacket.store:SLC4A11.PMID_25007886_Subject_2 biolink:has_disease OMIM:613268 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:25007886 uuid:fa001b53-51ab-4587-b9cb-8a9e8618f793 phenopacket.store:SLC4A11.PMID_25007886_Subject_2 biolink:has_gene HGNC:16438 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25007886 uuid:8cfbdd15-0f25-4d81-ab13-4fc6a6219176 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30400883 uuid:b64590a1-070c-4aa9-833f-5b31f46e6cb8 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:158d00f8-ad9d-41d3-ae6f-57820627b98c phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:80abc079-65b7-44cb-92f2-35fa1e38ef43 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:b0e9c233-be0e-4c32-88ad-a10da65e8186 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:241ba69c-acfe-46b8-9f5f-d3950e8f4493 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0025051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:92510b83-b61d-4ce1-9468-15b84833f3f3 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:8f47286f-72f4-41d9-aca9-397acc9d3657 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:638f1340-d758-4839-92b4-590a2aceb310 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0002018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:90a9c2f9-712b-435d-9e97-c1ab5fd7df94 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_phenotype HP:0034598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30400883 uuid:088c4688-8054-4222-bd22-417fd13fb836 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_disease OMIM:300352 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:30400883 uuid:034e60fa-5bc8-4600-a44e-69caf71ea5d3 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:has_gene HGNC:11055 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30400883 uuid:013029ed-87cd-4f0f-b1f6-85c760cd2f07 phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:695a02f1-5fcf-4fed-b78e-258a4375e648 phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:c92c4f3e-dadb-4113-ad57-eb8787afba4b phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:d014420b-be85-4bfc-b855-4e4bef26679d phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:b412b3e5-7fe8-494c-8ccb-b921c9ced485 phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:64aa6496-a1f4-44e5-82fe-eacdda858d64 phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0032489 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:46fb917f-aa0e-43c9-a8ec-a1eb5429257d phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:579a7213-a67d-4e80-93dd-4af1d14fe111 phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:58e3022b-a860-4ea6-bcf5-a849820ca6c5 phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:10c5669f-ac65-49d7-8b7b-7f642ec424ae phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:93db3090-9c8c-4519-93e5-c0f79609518d phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:178313fc-733a-4d7c-9e79-cb224b2f0b7e phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:1a8a1927-29d3-40d8-94f1-06c1fd954029 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:81d216c3-c3cb-4559-aa07-415280e6164a phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:23490441-19f6-483f-8cd7-db4b453458e2 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:3296bb1b-2415-4540-989e-64a9d39f3d0c phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:0f920931-99b4-457d-9959-16c67cd43b06 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:62ba6d81-9693-4856-a64a-d5036457a578 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:ffc53f99-727e-48a3-885a-74b291536f85 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:59666162-6ca6-4fa7-a2a7-f47bfa57db78 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:5bbdfc71-2bb2-4be5-a438-71a800934cd7 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:f7c74c66-323e-4c8d-a228-f9207125a594 phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:48659826-fc08-4e8b-9fdc-088cbe34464e phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:ebcf1c15-d56d-4445-864f-2b6ccc89ad55 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:b3691286-15c6-40e0-bc4c-90953d90f60e phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:832a7c84-1efd-4c65-801c-084e92b07d6b phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:733f41ca-5d5f-46b8-9cb5-ab44fdbafaab phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:7d86237c-321b-450f-98d1-8f9284d7bab9 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:75ab1b63-524e-4249-abef-febb360f774b phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0032489 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:aee9cd84-6854-48ed-b5cb-9dc8ad7d0d24 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0032487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:f5331e08-3caf-4bcf-b539-04ff1cfafca7 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:560eea95-5cef-4702-8f54-504c8d986bc1 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:25d6b099-be0b-4b4e-9105-8dd64f47c9ae phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:db5142b3-74f4-4c35-b1f3-a6780298fac8 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:1fcffcd0-4503-4bd6-9c64-4ccab7ffb23f phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:d7da5a5e-513d-4556-9654-f0928954be04 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:4227581d-449a-41c6-8b4f-1062c709dea6 phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:6017e995-0dc5-42d6-9459-aa61f6a1d97a phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:37d4373a-6437-44b3-abe8-9c4985023d23 phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:b372817f-390e-49c8-9152-62c01a1e3f81 phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:fc439d07-e077-4f5c-875d-39c179be07ee phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:02c9428b-024b-4f49-afc3-7d43c69895ae phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:506e69b2-190b-482d-94c5-7991e71ab70b phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0032489 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:da50aec4-57df-43e6-bdca-8e37cf5713e8 phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0032487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:c1a12149-8c69-4b5b-a9a4-1e79f206309b phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:34f4a559-c54b-4a7c-8643-11498273c948 phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:a0e684d4-7c4f-467e-bbb5-3f68b3832800 phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:c238d4de-f449-4db8-a705-d2fbf9db6e1a phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:a5828340-c752-4039-87d9-2dd317dd2683 phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:ef918955-912d-4138-b2db-579e6a7bc7ec phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:0d541ec9-f00b-49ae-9d48-f35034dd51ca phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:d1a75735-e523-42e9-9c22-93719487a822 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:d512fe23-036e-4f43-9785-b21e8859743f phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:9b17f079-0291-4f97-942e-68094fd1b10f phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:087be9bf-7fd6-4b1e-9e55-f77777da91e5 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:f5278931-b687-4563-a4e5-302e30e21139 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:5195465d-da4b-438a-811c-094738779230 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0032487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:faed0c42-24e7-4579-b24e-a1b263130552 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:093b0526-ee0b-4917-b5af-9a1d88bfbb57 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:ab17ee3f-ff31-46b6-ae6c-da9447b735bb phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:e9a4ee22-ce57-46f0-899b-e04882526a1e phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:426642b5-3b29-4e89-98e3-282aa39e1838 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:ce5e420c-00e7-4a80-a269-fbd220a0b39e phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:c969ccb5-6426-482d-9998-95d7f432bbe9 phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:051005a4-3fe9-4ed1-b7b2-be1c71cb2d1f phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:c26cd993-0358-49b2-a53c-973c6190e141 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:9bc1b6ef-6cad-4a36-9d9d-be1dafbb4e44 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:c11239a0-7986-4d4b-89b7-3815cd6ae031 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:fb113ffe-4d5c-42df-bb44-8e2c223a8f65 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:00530ff3-fc75-4d49-91cf-cf4eeeb60538 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0032487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:eec0c099-9c60-4a68-a3a3-96aeec6d4512 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:c9ad133f-0ac9-4749-9725-d6af0b463185 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:bad10b2d-edee-4b25-8b5a-f4309c9ebac0 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:b09702f7-1d2b-4ae7-9962-1013399318a9 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:34266dcf-f69d-45db-ad27-cada4919ccef phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:c5f46ea8-7fa7-470a-ab78-d189ac9d0a1b phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:16a230c4-8c04-4b31-9b1a-07e95b26a085 phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:0be44e1f-5995-4ddf-851a-a15159f2c348 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0005208 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:1f460c77-018a-43a6-b66c-b54a818e2d69 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0003270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:b30c3aae-34d3-4ede-b5df-f84f8a10f900 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:db3e5f29-0d55-4b59-ac09-8d507fc19aca phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0034470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:8249bd4d-61f0-4f7e-b350-4261141dd938 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0033994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26358773 uuid:8dc1d272-82ea-48b7-afdc-530b9783fb2c phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0032484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:002053a3-6c41-4cc3-a840-761883d4a182 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0032489 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:1f52a268-bc6f-4ec4-b995-c5a343cb6f48 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0032487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:593ff092-fedc-4cfd-b0dd-67722ef85cf7 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0010931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:8e58f287-80aa-4dcc-b9f2-7f1814353da6 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:32dab1d6-fd08-40f6-82c0-4d65dbb186f6 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0032024 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:534c1a9b-1458-4c64-9f8f-3ddf9113e7b1 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26358773 uuid:22d73726-f3c3-403b-8ca2-6e06ec640f5a phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_disease OMIM:616868 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:94b4e921-2c39-44d9-b913-e7033d3907d9 phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:has_gene HGNC:11073 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26358773 uuid:fdcfc84f-db4a-4265-a2d2-319ebd75ab73 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:6e15d482-296f-4f24-b22e-a08e9a8faf2f phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:a2708a3d-1e67-4f90-a1eb-a36d69acfac0 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:e6feecec-463a-4365-8f6b-41b609e9bcd4 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:87f12f04-d408-4eed-9971-f9d7d6d2c6e1 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:50712c0a-c6f1-4d37-b9fa-d0549721e1a6 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:254091a7-9107-4a2d-bdca-52d6526ce051 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:674a4500-fd25-4476-a1eb-f4e29ad8421f phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:2b20a3c9-fff4-40a0-86e5-3b6ff1e49da9 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:77d5fa43-53aa-459d-bfec-83e6f856e96f phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e515b7bf-b252-4a91-910e-db37f4c3d307 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:860b4d7a-1219-492b-93bd-07c81631340d phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:460f0ef5-ceae-4cfa-8b87-f7b90cfe1b7d phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:03127952-a846-4a84-acaa-ea1e688dce40 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:68b29004-2cf0-44f9-b677-c061fa070a43 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:968ae5c7-2653-4b41-8658-1eed8b24557e phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e32fb895-0661-4e06-a7f9-fe3824748ea2 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:25d94496-752e-40ab-9452-569b7314ed35 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:5452218a-f397-42cd-a652-faf26b379f17 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:4c6d96a9-17f4-4674-8cb9-e7c7d5425f68 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e5a86454-24d4-4041-b2ab-8a4c78c54c6a phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:7d5b891d-03ca-4169-9f80-76bef99e0959 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:da90b31f-3d7d-4e94-a472-d631212d6fa5 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:97a9fc30-637d-43dd-8ff5-e2851a8bb3c1 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:d1e6e8d9-0caa-4271-abcf-b3d325ad3181 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:117c3097-198d-4222-a306-dd79bb84429e phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:a99b3ad9-ff65-4757-b8a0-5c63b8ebe999 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:73a17d24-8fd7-4224-b9a7-9e2dfca2e5f0 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:d6f8c45d-a57b-45e0-836e-0aa24270dcc0 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:10572e91-8dd3-40a7-91ca-415ba97b08c7 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:109d0bf5-f11e-4f43-ac1c-c0b9026f0f77 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:d30ea699-7f7c-4f38-b1a1-6b0161b2ecb0 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:cef0a119-d02f-4c80-9f9a-8a1fe8152da9 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:7f0934bf-cde9-4a4c-a1b9-51e6db0505eb phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:8e304da0-08e1-4ea4-b9a6-2b27a32f689c phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:28e62254-f363-41f0-8d51-ea4387226641 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:0a4f0045-d16c-493a-90d7-3687d27c46f1 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:0874ca4a-0041-4deb-a0a1-88f4a7ffff0e phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:b159f34e-b458-431b-896a-3fd070b7c32d phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:16d2bea9-0ad8-4e02-8fa8-a3b9a5dea91b phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:597fbaf5-ce9f-4a53-b59d-7e4fc0a0bf92 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:40d219bd-fc95-4b48-a9b2-e19e9f4581d7 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:85711666-c0fb-4296-879f-a5ef93832e9e phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:831f62e3-4be9-4230-85b2-45b69b8be178 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:9d26d877-b9b3-4993-9129-693b199957ac phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ed2fa536-1ff4-482e-831a-1da110130ac4 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:2a8c4267-948d-4eba-ab8b-518680d6fa0c phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:a36b5aed-38ad-427c-9e5c-0fb093ab79ea phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:846e27a9-7021-4542-b4b0-03041bdca00f phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:1cda0609-aadb-4e9a-9af7-9d71d5ce000f phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ed896b0f-ce3f-44ff-b7f8-7f70062a72d9 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:01177602-8f97-44a8-a95b-00b5a3689626 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:d4afc6b4-802b-4f7d-92ef-fa33e3071806 phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:257323d4-edfb-4014-b533-40d540ae8df2 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:05eccbbf-0d0d-472e-95af-18905b67e865 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0011579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:a0f0f896-b3ae-46e6-a2cc-7269d15ec2e6 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:0ff333f2-b69b-4750-a6da-72eb64d88f47 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:9edd3a43-70ef-47a2-bfd9-9d853eaa6a00 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:998c5d50-d3ee-423e-81c4-ded84227b45f phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:37ed3c34-7757-490b-8c2a-27fb296d26c8 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:54ea980a-8d3e-4b2e-af67-13bad4582556 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:1e406ece-7fa5-4387-adab-b61ef7c1e8a6 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:72935a30-a684-4223-bdae-9d6fb9125900 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:2258ba68-babc-4be4-9fd8-3612133f29b5 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:74706428-34d7-466b-81b0-6f4e658e2c10 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:8912a02b-d030-4daf-92d3-c8fbe58ec6ad phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:a12cf216-88c0-4761-b3ea-836ed27d5679 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:32669a87-5b9b-40b2-b23c-6e4b3650d7dd phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:306a9475-653b-4de0-8f64-a690675e7793 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:8d8e2859-30d6-4ae6-b9a8-24ab5262076a phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:5a635308-200d-4a3f-a77d-41823234dc92 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:84d42101-3324-4350-b1a2-fa173ff2d40d phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_disease OMIM:619657 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23665959 uuid:eda6d53f-788b-4ce3-b0e3-4b559f06d246 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23665959 uuid:51aa2670-7e70-47e2-8e79-5d1571ebc533 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:4e1f3400-b1de-4eea-90d1-c77056b6c918 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:41068b6b-b836-4b4c-953e-10c307994936 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:8d56483e-ed09-4308-9ebf-61976a5cac26 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:7274b6b4-1829-4d05-bf5e-4f44d7fcd1da phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:ced5dec7-917f-415a-a507-0f08bbaa3992 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:3fb05d23-01f7-4f11-9135-bf11a41b8745 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:37ce9d4c-278a-4a24-93f1-41c53f67a0b7 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:dfdc0565-bcd5-4f00-878f-acbc09196b34 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:b9258d42-4ed4-4716-8e5a-7776bd51c568 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:1b004265-f83b-4489-b123-ffb33fef75c5 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:e5394509-e85b-4c56-a3ee-2cc78fa91b09 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:dd36d17e-954a-4029-9bb6-5cf7d702801c phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:12f2680e-8b85-4e02-a93c-128434c50318 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:1c471091-c940-4521-9ed5-afc94ab00a6e phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:274a807e-9b13-43d0-856e-b3d4a6978023 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:447df083-1909-4c09-a878-7b6612158c9f phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:9e9c7a7d-ffe4-454c-91c3-f34cb96e606e phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:2c64e023-8c69-411b-8bb5-e9d290f015d2 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:71ea172c-deb5-4ad5-8628-9954a2867935 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:76218b60-0198-49e0-9739-cd10b3310927 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:da767f79-9b8a-4f8e-9483-0f573d97c501 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0002245 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:b7ebae4a-b11a-46ed-9f97-2f90d17704a2 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:08cb562f-a3d7-47ee-bee4-d9d4c15a1fd2 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0010627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:a19bf904-8e65-4c55-aa10-653b15bcdc97 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0011755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:7ccb6851-abfe-4535-a0fc-fc19a24f3e3d phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0006315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:f18c869f-5e68-4683-b066-7f25639f3411 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:bd995864-1960-480e-8892-f3b4d6cf9ea3 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0011579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:bfe0f535-c539-4680-a761-29eb131a1450 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:b2dcafda-625a-4d6f-b39e-7a040d5b4a32 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:b00e3826-15d5-496b-bb4b-c6a3fab38d58 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:c136ec5b-f866-4a1e-b915-63cfdc81a00b phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:b990acbe-3398-4106-8eb7-9b04c6b72a84 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:88612c35-7fde-46de-9f54-bed627ab2bce phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:74807a27-e674-4f86-a3cd-2cb38b6f8a64 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_disease OMIM:619657 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:fbd0918d-0d18-452c-817f-3b50875f0cdb phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:6253db48-54e0-4bd4-84fd-f444779ede95 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:7526a95f-d886-4091-9a6f-e395b82dc2ec phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:b7fd6b8e-ed8b-4af3-bd35-85520c115993 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:a33b5cc0-4a0a-4f05-8db5-86857bbc2faf phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:9becfbd4-a327-48ab-8c43-7e4e606873b3 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:c417470d-5612-4d06-9ba9-b4750028f1c4 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:4f520fd3-769c-459d-9ddd-704629ec6f21 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:cdbdb085-75e1-492a-9334-ccba8e497bab phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:fd622858-4758-40fc-934f-3ea108eb6130 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:65c101ba-70d0-45b2-83a1-5e0e0daa2b83 phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:8945d5b1-f484-4afc-8f1e-53b4d7091d66 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:3322be45-fa9e-4992-bc2c-59da5c41fb9b phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:b2d69313-6eaf-44c3-bd39-d6ff8a063bc4 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:be8f2146-2576-44a4-b632-06762728184c phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:8ddb0bdb-57ff-4e63-b9bf-cbc116a21bfb phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:da50ff96-1a95-488c-bdb4-34fb61090c0e phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:d5f35525-8e26-48cf-99b8-4c85675b9eac phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:f53be6c1-c341-45c1-ba1c-65a203421da7 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:883311e7-20f9-412b-a922-0716ad06594e phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:4c4039e8-8698-4d6e-ab8c-65873b1336fd phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c1294b3b-2dd6-4b4c-b524-bf5ed1b12d50 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:40742973-8896-4754-8cb5-301c509ff5b6 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9897b4d0-f348-495c-8a79-9b870406d5f7 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:61ba1be1-3bc2-4326-b72e-b72ab2e8036b phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:6a866c0d-deca-4d67-a4f6-282a14b83e55 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c3a50c95-534a-483e-9398-72dc61c2fffc phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:3b354263-b35b-401f-9806-61ce158864c8 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:fc8291c3-f7af-4f88-8eea-02398b9161a7 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:4fb1a6c0-b8c5-461f-8025-45f89303452f phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:4dbab341-4b9b-43e0-99b2-2034d804fd23 phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation P53Y infores:phenopacket-store PMID:29967133 uuid:7d420ab9-1359-45fc-9f94-c850cdf0695d phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:92a6d320-3672-4e56-8d8e-7779fc156eb1 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:401c3e6d-34b5-49df-ac3c-1d756e64adf8 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:7f73922e-14e6-485e-afd5-55f48362c075 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:6cca771a-9761-4d2c-8b46-07a2cd9dc300 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:3f35644c-989d-4a2e-81fa-fb74c7b2b4eb phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:03cd7e8f-461a-4e2b-8a74-7eda836671c6 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:dfdfe175-dbdf-47c6-bd45-8e24d5e8db99 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:8c7ff6bc-5b3b-4a87-aa77-120f85545b9c phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:e2827380-e419-477c-bab7-d65113810748 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:a3b0cb91-10b1-4a42-b959-4a022d2cc2e7 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:ea635174-25dd-4c87-ac1e-09ec65883394 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:7665ddea-9bd5-4dfa-a0c3-fee394ff8a66 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:5774bed5-2ef6-463c-b998-28867654b826 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:fe724df9-3205-4b35-980b-9184d4f9ecf7 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:44d0843a-2d62-4477-a859-7d06d2b545aa phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:62e02e12-0d29-46aa-b7b7-ed28a0dee42a phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:9b450bce-1dd6-4155-9d22-4725ee764445 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:5fee1b18-fa58-47bd-a39d-9738a0d5a2ee phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0011579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:1144e4c9-b5f5-4a23-97f3-3662c702b2b1 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:2e61f929-da9b-46b0-b4a5-58e543560e76 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:dbf8887b-f1a4-482d-99e4-4241bf89808b phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:606760bf-c73a-4939-8732-2caed29743e7 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:5163e994-2950-48dd-9164-92ee7b5bdc50 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:130f3eac-8de2-448f-b817-de07f83496da phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:bfa8de87-2263-4530-802c-f9562eb46559 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:587157a5-697f-47db-9123-06172db3462b phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:4ba563d4-45d4-4c51-a9be-53405b4c917d phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:53ccb7f6-86f6-4aaa-a772-394a24daaec1 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:c2faed6c-876d-42f1-9092-5dd520d2d2b6 phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:f38a2be6-2040-47ac-8bba-7cfb1fa01dea phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_disease OMIM:619657 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:33bf5712-b91b-42eb-b31c-d61bde5c11eb phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:71ec1732-aef6-4d31-b598-7efeca9ee129 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:c41d9ddb-4134-4d19-a5a8-11c2084a677e phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:bb3d03cf-69ab-470c-8d66-bb54c976fe67 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:f84caa1a-bf3c-44aa-a8f1-94ce3e96a84b phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:4939d9cd-4dce-4cd0-a661-710a98432223 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:b5db893a-96bf-4ff7-8844-077f2d054225 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:fce83ef2-d153-471b-a516-1d1ac4aeff96 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:fe4cf068-a467-42ca-bc98-3918e4a615e7 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:3c5d09d3-18ca-4747-91d9-f895842ac31e phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:05489f90-eedc-476b-a5b4-34cc03364fb8 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e4f7f730-9ba9-4915-9a2e-f7fc1d572d44 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a78b7cfe-3280-439e-8059-891d60b242ce phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:09bfa0e5-9620-44f2-9859-00665f9a06e7 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:3fbefd8a-d6ed-4c2d-9853-d27607703d2c phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:85c831ad-4568-47a3-901f-51eed0f6c460 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:8e640028-d22b-4cc1-8c77-5e6ba1601f84 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:2650af0d-8d79-4abd-8686-15df71995cfd phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9c5e122a-5b1e-46fb-80a9-3cda3fafbf80 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:98ebaf7b-1313-4612-af11-81d131ef8de5 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:ce0e0546-eab3-4ab9-9f29-587fbdd5131e phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:08232a2b-cf23-4f8d-8f59-e7ea9e713333 phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:371b3360-b30e-41fd-9a58-b72ff0c9d65e phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:069835ca-06db-45f5-b49c-e2fe30148a3f phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:f0aa0adc-afcd-4300-baff-601c7f827e0d phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:d7edf22b-94d1-4cba-a052-07b274b2b09c phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:7e1482f6-a5cd-4237-b6fb-fa54de9cc655 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:632f054a-d40b-43ae-acf5-55863d21be60 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:5a8e9451-ecb1-45cf-b2b7-f2b05dd31315 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:15ec8534-7b65-4e08-9f67-ca74231dc696 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:3ec13160-49b3-42b5-928c-8a353c228afb phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:a9dab2c8-00a0-4926-b7db-9bf5aacd6488 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:3f360bb6-4c30-477f-9ba6-60dc51d786ba phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:068b0a61-c9c3-424e-b22a-ce5eb14d4913 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:c7dbe6f2-bbdd-4b34-a482-9d22c54524be phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:82a530a9-6474-4356-9c65-701a8c1976c3 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:e0d7c277-0e32-4456-a519-e098dd0a6c73 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:2a66c94c-4a29-4463-853d-c310a7c86262 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:65dd8f59-2c01-4ad5-8908-109ed9ca6e13 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:be21029b-3714-4860-907f-4b6d083fedd5 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0034179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ad94ca76-1fce-4c62-a64a-381521d6aa9f phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0012163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:daab34de-0b03-45b0-b3a5-2a848ab1def3 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:f7759efd-373c-4136-ad83-2abc04f66750 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:31029005-8e57-4e05-8551-e2e93fd2a864 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:471a28fb-4bdb-455a-869b-bccc26fc2006 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ca9f3a9c-54c5-4a48-bc77-aa17ae32339a phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:d5f6e16e-b8f1-4727-be6c-28bdb9ff8f93 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:6a5359ed-5916-40ee-a176-38dcb163f547 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:c373eb43-3e28-46bc-be2d-6065207c6399 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:0628638d-7d80-4328-825b-8ecd6dbd1455 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:2cd2eced-4a6f-4024-a043-19e324107357 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:bff4aa89-82f3-4431-b00e-94192c71e970 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:a943b030-1150-47b9-9f04-855dcc738210 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:78ff202f-71ef-43ad-89bf-2ec200861eb0 phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:8f3b5265-ccba-4fae-abac-c2f0c317fa2e phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:4a6bc9cc-f1f0-4cf9-86a8-ec8ef4d59e9b phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:d2980225-d8e4-4feb-b5d3-b81222a0e7b5 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:fd0ad87c-2c38-4b29-90ab-267c4bd79ec2 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:65ee7001-3764-4af5-b149-e077142f2d44 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:3bdfdb1f-e8a4-4700-9f1b-dfbcf23307e4 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:52e005eb-6b2d-4169-b07d-ebe046b73e27 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:2d5af5df-d3d8-4359-9c0a-8d083010e688 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:57fcdb80-ed9e-46f2-a4f7-3a8ee2c1b4a8 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:c0c76dbb-aa9b-48f9-bac5-33d88e2e7158 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:a3a3cec3-0b78-4fae-8c7c-0da138c3a112 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:31ca9067-fae5-48e1-acca-1c12a280d234 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:74ed18e9-1c70-46e1-81db-69a335f4d0ef phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:dc35fc57-69d8-49bf-bf29-acba1083d7e6 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c2119eb6-540f-4642-bb65-864778ca1a1d phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:fa4813bc-d7b6-4693-9a85-7cd255e088d9 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9632522f-f56d-4df8-ab76-89c605d03c95 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:48a26155-dac3-4997-8e98-58d988a413fc phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:27044d24-202c-4fb5-891f-979ac7053158 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:42ec578c-2446-4b81-95fd-7cbcb09d6df9 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:7c5f1cff-c255-4a9a-b145-f80caf345366 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:fda8a84a-5dda-42f0-b0da-f9c96f871756 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:29967133 uuid:16ecaf39-afa3-41df-8ff8-bb311ac51255 phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:9bf75f7e-00a0-42c9-b300-0846c16a26b2 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:505ddbc8-175c-4a5e-b915-fd46af0d32ed phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:24944699-daae-4fc7-a144-1944d8f28b5c phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:0afbee4e-68fd-4553-9394-242236ba9c30 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:1901d8b8-130f-48ab-be23-ac6a9ac54413 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:a5ab6265-984f-458f-aae5-b14e45c142e1 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:02c34b8b-bef6-44ad-989f-25bf23470585 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:e3ba1b1d-39d7-460f-a6fa-11fadf1f2e30 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:a4395961-2e94-4f96-829b-80506f32121c phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:4a634d1e-551b-42fd-a322-439196e73550 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:562364c9-458f-4d8c-9b52-f47eadb6e1f8 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:50a7818d-d6ae-4854-9d12-5a251065eade phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c580c07a-0be3-493d-84a2-1a28227d4acc phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:36c2376d-7692-4fbf-9e3e-a63223c29aa4 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:75c0eb5e-5dee-47aa-9455-e896ec867213 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:5e36bc42-e90c-47fa-a03c-5046e6654ce4 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c16a1f74-9b8a-4517-869f-42f6a00d1a4d phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:ff987900-e7be-406a-b40a-28a87968140c phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a3124b85-bdbb-4b51-b01c-d170f8b558bf phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:624561b6-fc64-41fc-ad7a-d0e34f232161 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:bec1340b-cfbe-4cff-94f7-22ec2d6b9f90 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:2196ddea-0c24-4a40-861a-63b24e616c00 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:04f0010a-82c8-4a1b-8dd7-5b36c0698e3d phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:1f4010f0-7a58-44ba-bcc4-655c83378a15 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c4d898e3-5d9c-40ff-9372-1ffb3938d00d phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:54c80f6a-eb63-4ba5-bc97-4c20874375db phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:43753cd8-5448-49f5-8718-187d26280797 phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:01c4ac8b-0c8d-4df4-b98e-2eaf6a618d2a phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0011579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:bd27b95e-42af-4608-9c66-8f494ec079fa phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:75d66724-2f4c-4bfb-9a22-b844e19e7d86 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:9b414d00-c303-4fca-a1de-b23f30934243 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:2f7b811e-dcd3-425c-b88e-f35ba86ec03e phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:84ae5015-c9e3-4bb7-a836-89fdd7d1f61c phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:53f4dab0-22bb-4222-9cbe-cf811be820bf phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:ab630118-4d63-430f-8a4d-0399288727b8 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:2be35609-164b-4c25-9479-d02bd76a3b7f phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:0efc2d4c-797c-4f66-bcea-869f58cb852b phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001770 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23665959 uuid:8bf1fa97-faa3-458f-bbe2-1326d6b7e81f phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:588e63ac-a724-496e-8a62-ef0f4a986512 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:2e80a127-2d41-4666-82bb-954865fbdfe7 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:b9af540f-ecfe-44f5-bc2b-3dc86ca92e1c phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:c595b839-3ac6-417a-be37-4c463dc24b40 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:ef17a97c-50e3-42a3-89b5-b8683ee21d2b phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:32d3a5ab-b969-46a5-9552-0ecf774fec0a phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23665959 uuid:35f23704-dced-4852-88c2-387f28236af9 phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_disease OMIM:619657 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23665959 uuid:6550ddb1-e278-4bca-935a-542fd3b96a6a phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23665959 uuid:ff00cc29-337c-4172-8304-bf6ae83f9283 phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:28283438 uuid:4e10680d-29dd-40ce-bae1-dd0525e7c29f phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:28283438 uuid:53242c5d-c878-4808-81f4-c0e7ede22ab4 phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28283438 uuid:2443c859-052e-4bf5-9a3b-46f6698a0190 phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28283438 uuid:325cf347-aa0f-4fdd-a06b-1e2ed9d9ed0e phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28283438 uuid:508e15f4-da50-45db-950c-713ecf25a132 phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28283438 uuid:a73a385d-c1a8-4dbb-8342-b08ad89ceb35 phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28283438 uuid:d80b8bcc-ec0a-449e-83a9-98711e33f768 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0011579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:a8e69fce-a09b-481d-98ba-5000554d7493 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:509804e9-bd2c-47d9-9d06-bdb1a91e5e85 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:06083412-803b-4e6a-98c2-a7c34f632e07 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:580ecd42-f757-4f92-9bef-318b3056c922 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0010772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:308cf361-6774-4f52-b665-8654f38d1662 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:be38d703-4879-4685-8357-ac3df91fd234 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0031565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30157302 uuid:3213e0ec-218d-47b5-a083-8fed3408ff70 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:52d9bc68-af38-489e-83d0-acc1f2f4b8a9 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:ea0630e9-72f8-48a2-91e2-3f6b38cf606c phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:3609973a-659e-428f-94a1-dc9d53af1c07 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:722f6480-1ff6-45da-8cf3-561ce04b8a5f phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:c5e087cd-a555-4d2e-a240-e499a2cc0b08 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:5ed9136b-c668-4c15-b37e-000894cd4941 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:051fe893-a9d2-48b9-bdf1-8658d8230cf6 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:c8586ac1-4388-4398-ab45-f3e11f4db21c phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:a47722c9-b9dc-4fa5-962c-996bc06c1bbc phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:5e322123-3846-439f-a5c8-990657bb53a6 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:2d1625e9-fb31-438a-99b2-25034e16b705 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:08f2a8e4-8220-4222-9e00-5409752c2698 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:a386ae62-1e10-48ac-9920-dc45cac75183 phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30157302 uuid:7d3e425e-9df3-4933-9dcb-828aa839265c phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_disease OMIM:619657 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:1afc866f-af9b-4518-aaf2-a3ff2cc44b3f phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30157302 uuid:9293663d-d87f-4721-b2ce-9d0e087788b3 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:2ccda70f-4b1b-478c-93fa-d5e03f2ea290 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:28e643d8-716a-4bff-936f-825f1260ccea phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:20861782-465d-4647-b6ec-357af8c5797b phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:372bf012-3581-4540-87a6-9c3240354b03 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:ec43336d-f8f6-4bc5-a07f-b8231fa30d33 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:b93d5392-8208-4345-9402-ee170125ccf4 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9607e242-6d0e-477c-a8d7-5a060d257054 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:2c9be270-616f-4837-9e6a-596e587f888f phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:65277f72-d36f-4911-b7eb-7e7e9c68cc31 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c9009d03-fd97-47f1-b1ff-a7f14c9181d4 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:21f8b2d4-bb52-41d0-b096-70748b6fa4f8 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:00c5fd86-8009-4e8b-9b3a-b0c9c75405bd phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:adc25288-04b6-4394-b8cb-fdcb5462c4c5 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:eb2c072f-78b4-482e-8ec0-da45de8736b2 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:1be74904-3119-4a6b-b7d4-6f9a7cc835fc phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c6af0c5d-8ffe-48fa-a821-71e47ee4ff85 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:7b772af8-50c9-404f-a00f-c2f3e78002b3 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a93d9fc3-1561-4b2a-9387-fb8a78fe613a phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:451969d5-a2b5-4178-921c-64d18ea0ae73 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:ac575407-4b6b-4a99-9863-7c25409887e9 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:56bcce28-22fe-4e44-b964-1bf2357205c2 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation P64Y infores:phenopacket-store PMID:29967133 uuid:14005af5-f478-4b5c-8125-9151245fe814 phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:d0fcc782-c706-49cc-b6be-e22cf4fc9607 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:e1a0ca1c-3bd0-44d8-a626-ec316bd5368a phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:7f4b2e61-734e-4f82-b73e-ad541d3349b7 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:4e1b5790-0f03-4673-8d15-e4a35f1358d9 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:90d6fe1c-68d8-404e-9c1b-7e860e87997e phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a6e6d1c4-6c83-473d-9118-e7dbfa9a527f phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:b030ff1e-325c-4576-a6aa-1d96bac42c03 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:3f34de79-5fa5-45c8-a6f4-2f55def4c2f3 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:63bd3a10-c899-4527-a970-784fa31ae2d0 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:033d2efe-dae7-4bdf-93bf-3f7c0ae016b0 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:69cf5360-281d-4536-872d-2826b251a72a phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:01372cb5-d2cb-4f1d-a8db-319aa2050e08 phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:4f22e41d-1ae7-4ff9-9feb-66f19071aefd phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:d7b197a3-732b-47bf-b46f-053549d57ead phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:8963184b-f8d0-49ce-9ddb-c05b7ae231ca phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:02789752-a1e4-40e4-a603-8c4457d0ef59 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0034179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:7c3a89ff-06f4-456e-a949-db09931baf3b phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0012163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:518a1cda-c049-4ffc-a2d7-2b5926528ce5 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:a73a138a-1a04-498a-b31f-b22db843cc12 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:08d2ea20-e310-4219-9d95-e3ab0a2a19cc phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:0390511f-eea4-4d05-8dea-9af56978afca phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:03f87608-c314-4218-90df-c4b6fbc30241 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:532c9f8f-1404-4efa-b5a7-4a4aee01b7dd phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ee891e8a-71fc-4c7b-b523-cb77b4d84e48 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:19a00c1f-a8dd-4c9e-bb57-188dfb5f469f phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:0081fffb-727d-4604-9a13-5dbbc6a6f7cb phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:0a2e1bad-ee03-47ac-a1f7-c5060b77deb4 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:92be7359-ae20-4cd6-958f-6d39b906e779 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:00683394-404d-4319-8f27-45090bc3fcf3 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0033981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:3b0e0ce6-f2ab-48b4-b51b-5a32c57d58dd phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:e2325701-1bb8-4492-bd3e-d56c5c5f86ef phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:b9e1c2ae-ee62-47ca-86d7-e5fb2eece428 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:c297c297-6680-4cf2-83b3-7e81f56ef445 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:fb6ba676-ad19-47c9-a70d-c6710e83ea5b phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:f0ecbec9-1a20-4573-9ec4-ce2241a020ad phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:fd9e9a3d-b803-470c-9d90-63d467c266f5 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ab75d579-8047-46be-ac38-9f36f12d2ffd phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:4dd5fed2-58db-45bf-a06b-4138fb49e025 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:4f25fd82-76ea-413f-950d-306886abc5a5 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:0dcc3479-6dcb-435b-a8c5-95008f27a566 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:af25e6f4-310d-4bf2-aac7-a94db6be406d phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:68b8da8d-ae43-4381-a640-a2004135f6c3 phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:2c217239-a397-4660-8b2a-399ec872662e phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:086dc430-4120-437f-9aad-5e5e71604e82 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:92c8b6b5-4aee-4265-8b32-60b95538441f phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:bd591d7e-61cf-422a-b91b-0c8df4323295 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:456ad9fa-23c1-4bf4-929c-21e4d614cff1 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:5fc3b3af-41df-445d-9618-7b9812225b6b phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:8152d087-012f-44a2-87ef-4b13c5e6a29b phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0012771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:4a3c8355-2461-4ba9-8ad9-0ab0c1f732de phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0012773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30448172 uuid:1ed9c244-01b2-41d2-bcf7-4b718d0a7cc9 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30448172 uuid:42465b64-8922-4e39-8780-482f8e892f26 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30448172 uuid:a11b9174-d451-4557-bd5e-7dc5d9807059 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30448172 uuid:cd4567e7-5e89-4eda-b5f0-b3573695e110 phenopacket.store:SMAD2.PMID_30448172_man biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30448172 uuid:8389c199-3691-4414-ba1b-981e938e9a63 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:472c9412-a625-4cce-a8c3-9c6651680dc2 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:e5584a98-db5d-4356-8b45-cc8321785dd0 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:cbb26dae-5450-42a9-86af-33e587fe4fd6 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:02600fa7-a3c9-4077-b879-9e064b7ebb7a phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:2311f32a-76d6-416a-9d15-55f34a33b3d3 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26247899 uuid:e8fde901-b376-49d3-ba74-7e4646668077 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:c4892a3f-15b3-4527-b9ad-68abf7f1e522 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:f3f1213a-1eb3-4a35-a52f-d6025b0a8f7d phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:6b63634a-b56c-458d-ac10-97d28a23dc52 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:9807beb6-95c7-48e2-a427-3de0198ecc6f phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:a44b2444-3128-44d2-a9e1-fc61d6b3b1b8 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:27e48b60-8ed1-4243-96e3-b13af0638f81 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:5ac76613-ce44-45bb-b7df-65c75743ae0d phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0006687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:bc397d51-d11f-4d04-9376-e7980b403f05 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0033981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:ae7c02ae-1b54-40b3-82b1-896dd77b7c3b phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0034179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:cfea2c64-8434-41d9-a76f-284c1ae39f9d phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:416f30ea-07e6-4202-8d5d-e284cd94cca2 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0012163 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:b2b145dd-3d17-42e5-b6f2-68453d21c3cf phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:1e9097c7-7eb4-4311-84e7-29f1df3e63ed phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:bd1ffa67-dcfd-4ce2-a144-17914087b054 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:d743f4d8-cdd8-4072-a10a-bfd73f5cfcc5 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:6c810565-3947-4a28-bd11-dd5ca2c3e325 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:65303ace-a145-48c5-82a1-4f1f01cfbb50 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:a4368971-3c2f-482c-8cde-dffc8f0a3f1c phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:3f97a588-ca5a-4383-a58b-072595c87fa9 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:227cb360-8978-48cb-8246-a2ba5c09aa54 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:36887bd6-0286-46de-ad1e-9d387ea32f1b phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26247899 uuid:6877925d-65c3-4362-9682-d8ee90912023 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:72a2223e-60e0-405a-98b4-8c575a62a005 phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26247899 uuid:2568708f-9e51-4e48-9971-368df79ea192 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0011536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:65181ef8-d0aa-4606-b29b-c5a970a34ece phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:3765f5e2-cd27-4345-a87d-05d2e41a8ff8 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:c6cddb03-7391-4d6f-96a9-a784d7046cd8 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0005160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:c70d6dc0-81b9-400e-bb32-d5e1e91f0d9f phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:34df52f2-7f86-42f3-892e-117658dd7fdf phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0033379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:31d2067a-4e65-49e7-8fca-df2688dcdfc6 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:ad050aec-11e6-4e3d-8793-66de6d187e11 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:131aa4e3-ffb3-4dec-8a0d-1274ccb2dbed phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:e24b3cf0-4217-4f65-a025-a109121df17e phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:2e532e97-b076-4fd4-8547-30a2568bf8dc phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0034179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:b6bdc6e3-5c23-4bb2-91a8-6676374af2b6 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:200ec956-83ec-4b7b-9350-4ab6c6830cf0 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:e1d033b3-6e26-48de-b19a-7f6b4f0adaae phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:6acb1464-80aa-4b95-9fd5-81efc59a7674 phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:f2de8a7c-9ef1-42ec-bcd3-4d72c63e8c7f phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:3cb14272-a46b-4e72-93de-2c027e48c39f phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34355836 uuid:0c6a3545-61ae-49ad-9886-d0c3c01659bd phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34355836 uuid:2f8e1ef2-c42e-40a7-afee-7e8b99fd34da phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34355836 uuid:105873cd-a342-45c3-91e9-de865013b061 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:ceea4ef9-9428-409c-9010-5c4d27b46e79 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c4c0df98-cf40-4419-a1be-070512a76b64 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9244b5e0-9684-42bb-8842-912debbeefbb phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:87908a07-8e62-406d-9144-7c0163dd885e phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:72db992d-1cbe-4be1-bf8c-ce3dd033eb36 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9977641c-00b6-42e4-a133-b97861dde4a9 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:f3ff54e2-62fa-4129-bddf-4b9d54bab616 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:8e79d933-1d3e-45b9-9a61-2776dfa2635c phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:857bddb5-3cd0-40ca-a770-f3ca973699c3 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:5ea1c64c-4a9e-4047-ad50-495e83ea0a06 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:097e57d9-26df-42d2-b632-08c9f76c84e2 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:09885997-b6d9-4cd4-ad9e-c4b0cc91b129 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a5b6cc87-0259-4394-b531-7722571694d1 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:5a8cda8b-2d22-4a06-aaee-6f7216340fbd phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c90c7320-5375-46c7-a184-fb27e3968c80 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:21d3ff53-8a4a-41fc-bc75-9d6fd91342d6 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e967eea0-1e86-4a2b-9939-ea60c66e50b0 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a0f26763-0f1b-4aef-89b6-d57790d8c48b phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:73b0d6b3-65b0-4062-aa4f-4325263e2189 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:076b44f6-d24d-406c-8727-79dccae5b39f phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:d5ef2a5e-0bbd-4d63-a0ef-4079195be540 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:88183bcf-4bf4-45f9-9164-c9e1b93c566d phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:ddee0ac2-83b7-41fe-aa23-eba20b417b7c phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:db9fe2b2-78f4-40ec-8e1d-242b3b648e37 phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:341a9fe6-dd1c-4aac-aba5-51845312cffc phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:5b9d1f29-aec5-4285-8d11-8c35fe3cae15 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:9b0bea92-75db-4f4a-a86c-b687e5f5de56 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:9b47a024-40a2-4a4d-b9dd-b7675b26447b phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:6d95e6f7-0f5f-4411-9b35-81b50041a306 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:7751a1cd-d2b3-4cd5-8cf2-c12129a3da3f phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e2fffd5b-1ea2-42ff-bf85-e66522ff3f5a phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a62b40cc-b1e1-4395-b404-25ba092c4acb phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:220a4a27-08fe-4749-9125-c77216f7c732 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:bb4e9b79-e5a4-46ab-9990-55d8537d8893 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0002326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:eeae372d-3c80-4bb3-ae91-a5d20d7029fa phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:c0756aab-8254-465b-83aa-aa19baeaa1f1 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:ebe832db-6a9a-4b2e-b676-3957ed43d004 phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:29967133 uuid:52315131-e0bd-439d-bc36-80ede5c27eed phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:c789d34b-5ec7-4b25-9ec1-8bf9815eab45 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:e9b7ef10-6f0c-4463-bbd9-b4a43196bd4f phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:7495d3c3-b8bf-4207-9194-69196db13ffb phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0012727 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:3be289ed-cea5-4595-b7fb-acf81b26d337 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:496084fc-4abd-4c21-bfc7-ef69399cccb7 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0002076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:f3bd12e8-7cb4-4705-a3be-ba4943e40843 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29967133 uuid:bc7651e1-151c-4192-9569-f2f1bbd04391 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0010809 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:e0d18c37-982e-4fd0-a5e0-c95bb73de270 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:83611caa-cae4-4f96-9509-6b8aef199216 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:86d6eaec-f12c-4b1d-8243-4fb026f2f7bd phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:649e50b7-0ac9-4e38-965d-834a6604114a phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:dc129b1e-dbd2-4722-b23a-415784f01453 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a7f8e447-aa1b-4baf-9e84-937f6857775d phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0012158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:d3220a0f-d3c3-4ec7-970d-5630835de5b0 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:9421a2c9-aeb9-4da3-b11c-770fb5f02858 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:78dd8bc3-cd07-402d-bf5f-0a9743980b4a phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:a01fe513-c9f8-4cf2-be1e-7805db523732 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:3d716329-2ee1-4760-a5d9-184ab0c1bc71 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:b17d559b-646e-46ae-8081-986f7aad072a phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:6128cc19-268d-455f-81e7-9e50cc7a6b76 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0002829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:d7772513-2e08-4b38-936a-6bf05444110b phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29967133 uuid:43a4304a-852b-479b-8762-7b1c6742a383 phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_disease OMIM:619656 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:29967133 uuid:9cdf18d1-4d87-456d-b04e-688212ddcd4e phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:has_gene HGNC:6768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29967133 uuid:2d542b83-d01a-4543-9fa8-1c02673406fe phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:4c41eee2-e8d3-43f1-93f7-b06998524f29 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:662390da-c31c-43d1-97cb-a0bd6e38aa15 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:c0137b4f-c981-474e-b57c-ff52ff60d70b phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9f433f95-d145-4c2f-a7e1-91df7bfd2cf1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:4b075d78-f186-4c83-9dc3-090cc5d6eef6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:9f89692a-8458-4670-8508-20afa96eef8f phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:447848d4-0982-49d3-9546-0cbfbb3891f5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:247a538b-0a9d-44dd-8d54-a1c1833dd5f1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:885355f0-e956-45f6-a021-e021ce55c4c4 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:98e6a1fd-c90d-4afe-9ca6-8bac045f19c5 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c0630343-3ca2-4a3c-8835-6ecc7470ad9e phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b43af0a1-fea7-4f3b-9b27-b3c2b0dabe27 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:41277b94-5d3f-4a42-99ce-83251990d00e phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e9104eb9-57cf-4d9a-aebf-7941cd146191 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f2e30f33-31ba-4663-bd96-bb4b20f004ab phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:867aa100-16d6-44dd-b1ba-12dc0250c205 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8ab42aed-14f1-424d-9505-a9a6aab8f29c phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:21060434-9424-4865-a8fc-e8aa29f60eb4 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1a93eb0b-a964-455a-8699-80ad2b9790b1 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:08735c4a-6528-4b50-b98e-bf01e215ebb8 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cfb32f63-4d57-4f6d-9c23-dc358e840ac8 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2a310554-c2a4-4627-9c15-b8038abc963a phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6056be66-a132-4f35-8c97-5810f3e9f686 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5d0cf810-a4c0-4393-bead-e1265c259044 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5878d595-f971-439e-b097-b683144d5b17 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6c47ad39-ed74-4d1d-9854-cd3582993b81 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6d2972d1-458c-4590-a62d-985180bc528b phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f7b6f6bf-a692-4a3a-8cf2-03a1270cf6c5 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ed5e71b4-20b3-4e66-ba0a-59ff38c7e404 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:18e3ef86-cc15-4adb-9023-509f47becfb1 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:2f075e18-699a-4f61-bc8e-d2719ad476fb phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:c3963131-8b2c-4987-9a30-14afab10fe1d phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:3c35b28a-cbf7-444e-8829-fa9711879083 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e4ecbffc-a19b-4d18-a686-49614b391145 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:3be78eb3-5e06-4948-9cc0-4af928969c98 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:1218ae40-e874-4921-a69b-d942d343f619 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:44baedc5-1e2c-4f7a-ac2b-0a125e817400 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e6f4b504-1491-45b9-8e10-111ab045930a phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:20a4c448-256d-4608-9e33-7f8b95ae671c phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:260027ac-a199-4b2f-9123-590fd17a2b97 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:9c12078a-9d05-46ec-8df5-f8c302075b28 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:46e8b266-37b5-4a8f-85c8-027976f4a010 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:085848c6-7c9e-410d-b509-aa05b4c72903 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:edf557b8-ccb4-4e9f-af60-946d9f29e013 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8a19c07d-6469-4622-8be3-9be72a983bfa phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:5c01eaaa-f374-45ea-8215-e026fe379de7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:6dbc5734-5a5e-4b40-8cc6-8dded87f49e1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:143f874b-32cb-46e4-b40a-aa1e45497df2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:993bf9d4-b254-4eb9-b19c-bcad8e909225 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:12190af3-2bb4-408d-8d70-46398eb94ece phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:b8d8e757-93ad-40c4-906b-62767ef33766 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:5259f7a3-f97b-43a7-8e91-aa53eea2d2dc phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2eb90ec3-be36-4d53-99ec-90e9ae04ed02 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ec13111b-4af0-48f6-b146-d35ac4c51a16 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a52accf4-92bf-4726-9b70-189df0e78838 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:73c86b2c-c73d-4fb7-b75e-15fc5d35ee3f phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:5d169d84-ca71-4b0e-ad36-984a76dcdf5f phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:98766a51-12b2-4083-a66c-d00aa63eac8c phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:71cbcce6-1897-4b49-a82f-60e51f4b8442 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:de77e67e-f9c9-4304-af0d-9990be2715e8 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:58eccbc9-ca55-42e2-b63f-01c3c3653b83 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:434d92a3-e545-4e90-abdc-97e2f31bb1ae phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:e060b01b-79fe-4daf-ab9e-ed3a80366831 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:4aa7168c-305e-4bb3-b64b-9f2ef75ce952 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c87f2f66-a23f-465a-9271-c6d02e370e02 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:dd71cb8d-1267-4792-a465-3781d8a22595 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c8f6f7f5-4b49-4399-ba10-10fad7809c0b phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5e277ca1-affd-4cc8-99fc-8a8367be434f phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:eeb42eed-c318-4e3f-ac54-eb89ef4fe239 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:7bd94b62-76a5-4ea1-b023-4f959b260040 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9fe8dc73-5bd7-4d35-8fcc-29097df23bc5 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:08931526-8895-4fcd-9117-1765ef50f857 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:aaf23671-f0ad-4378-9b38-3f48b283cc9b phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f609644a-354e-470f-b172-5863c5acc83c phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b2896771-93d0-4988-b37f-95bc8cdd875c phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e21e90ba-dccb-4d9f-9b56-34cd402e892b phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:aada4f99-52ba-42b0-91ab-0dc2f567a275 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e038e9b2-8ae0-4ebd-9fc5-4c9cd79829ec phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:578f3a6c-633b-405b-85c4-6aad2cc684ec phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:93a3ab31-4cf5-4f72-8628-41144bcbb2d1 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:82d97a30-0152-4882-a8b5-469a600e479b phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6ecc504a-c0aa-4850-a822-7958321430a7 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e492e02f-4a54-4948-9294-e19e3bef8774 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c5609e9f-1100-4cd3-8dc4-ae5f16694416 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:fdca257a-9bfb-408e-8947-8b80029be174 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:4ec4a31c-a3c7-471e-a14c-1d2a621897f2 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:7d9f3d1a-8d7d-48c6-8838-a327fa5136c8 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9e5e54ac-ccd2-48c4-bb19-10b306b74e54 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1b0fea82-2fb1-4001-bb55-d4e70f14ac50 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:48dd3a1f-f74f-49be-a8eb-e71d84da1de6 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6e7368cc-fcc4-4fbc-a7af-a2b4efc7a2e0 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b031b4a8-b5a1-45ec-8f3d-4c2deef1855e phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:490fc689-31f7-4f16-9583-c98a59b02e80 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:79be0222-b663-4304-afe0-3b7bea73b3a0 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:af6562c9-cc8d-43c4-aab0-9eef404a43db phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1770b180-70bc-49a7-b85f-a939874d9705 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:758466c9-ddee-43fb-8122-1e18656d54a1 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:33c1fb68-c35a-4512-a4db-3fd97ece21a1 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8e627b81-b79e-4c04-8be2-d3b75e40c2d3 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:31a0a289-9ecb-48a2-b313-2f244b22f563 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a05f63b3-f57f-4194-882f-2514bcc79441 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:552cbea7-3cb6-4204-a1ea-4e5beca8458e phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:7d0fc552-251b-4933-bc8a-868d6e613a34 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:be6c63e4-67e4-4f4d-9f00-c72c6d5fd348 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3ba3de7a-92a9-4721-93c1-5b996e5de937 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:287d208a-aaf1-442f-85e6-b3652b9b4047 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c314af45-3945-46a1-9f93-a916d2ef98d8 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e4daadae-2710-4055-935e-ea1f0f3bbcca phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6de2e105-9384-4be3-a1e8-48047b0dd381 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2e8c14f6-af9f-4905-a471-3e8490518f8f phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:b434c1f9-6cd3-4d22-829a-f5cf8e7b28a6 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:cd32d795-1a4c-4b20-9067-c2dcd6b273cc phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:23e03394-4f8a-4854-98b0-fc6e8559b0fd phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:f2a9771b-c9e3-4ec1-be61-215f5ac9d549 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:9f482b27-125a-4265-b31a-83d99165dce7 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:61d96466-998a-4b27-ad33-b001b3f82bc0 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c707923f-7c5c-4c11-98ae-f0005eee0ec0 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:65862e67-71e7-4dc7-832c-e63988d13d65 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:4d132002-452c-43c5-bbf5-52f36f10581e phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ddc9fb19-f740-4cd6-b2af-7e6086f7dea5 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c62c3748-28b8-4d7e-956b-c72aea512f0e phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5042cef6-07a8-4f55-8276-92708593e622 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2e2bdaca-3a0e-438f-b1c6-360a29b75460 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:676635bb-ca97-4bd8-a8d3-d121f1a6b54e phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b74737b3-51e9-4883-bae4-120a28820e8f phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3ec50228-b0a2-4b6d-8a12-faaf6bc80507 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9bebc51f-6892-4603-b5cf-16b15458fab8 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b37dffcd-e136-45cf-9770-b03480e74294 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:fc90efaa-db6c-4dc7-8733-9346e0699513 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bd6b1a72-f15f-48e1-bbe6-09234f79ecf9 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:42f41cf5-a476-410f-8712-6a9455f39856 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d3de3661-4a15-4abd-8bc2-2f1b1a70ef7f phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4f2dd79b-89c3-48df-8b10-4034b0964346 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:cbdeefbb-4724-4af6-8e2a-524cc78d8a7b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:ba1ec4c0-2426-4fe4-be5e-0830ae55c1b8 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:26ba817d-5f47-4236-9724-da3dd9c5a95d phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:d2f3fe79-b8c7-4a26-9ab4-5df0bfe1acbb phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:1b9ad5b4-f957-40c1-9eaf-4916d117e8db phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:d90e15e2-79cd-4637-9c32-92e240ae7696 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:55865a22-6788-447c-8314-a04753c562b8 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:d8224227-30ca-4195-b2fa-0f47a2a3fc5c phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:d7f5597e-4140-49a1-8f22-7a5baed0f5b9 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:3e6292c1-894c-47c3-be0f-a5387d98e696 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:7c5c7930-7c7e-4696-90a5-3c4c9522ea2d phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:dc50f1d5-c8e8-4381-8621-3a6ad2d1175f phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b580e9ea-c948-4ad6-b0b6-6db2bc3c00b0 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:97b35e02-e7e8-4909-9b57-dfc51d8749a4 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0852a0e5-a750-486e-840b-b1447f87dc21 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4d746895-0eb0-48a8-b632-420d3fbae8ea phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:a49fb4e4-9664-4f74-9282-c87082ebc630 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:2dba80ed-5963-497e-b49b-bf67cfac7cbb phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:586b9fc5-b8c1-4e36-847b-8a5fef420a11 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:27eccdc8-ca0e-444b-8957-e79ee2e82616 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:7525748b-e8c1-4557-9881-b5fb76d03976 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0ab7d2f7-c0eb-4fef-908c-12d65915ae22 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:d44edfaa-9aa8-4c30-a961-1c51f9ad1fd5 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:22ccd626-5da4-4b3d-9544-cdd143712217 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:948e1636-0a20-4848-a28c-27540a34a4d8 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c83385f7-c146-452a-bdb6-580e82ae9f86 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c99ea927-c3d2-4cec-9b0d-3430b9018727 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0945fa05-1026-4fe3-a464-fa3811e5f17b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ec7750c5-3d3a-4e38-b063-d3b58773c71c phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:dcb0016f-baa7-46b2-99bc-32e2e59868fd phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c9d1a979-de91-475a-be4e-ea4955ec8753 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4f7e7ec3-36a8-48b4-a70b-098740514f6a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c6ea93e9-bc2d-4649-ad4f-2326f1111559 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8e8eda11-7c04-4dc7-bdce-2d09b04683d6 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e502426f-e957-4088-bb7d-ecb4b3522789 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4475b083-2da3-4878-b30c-fc11c64c719d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bf4d53af-3d53-4924-8e7d-e361902d3318 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b4977d00-b97e-410c-9e97-378657f6606b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:72eeb45d-0c10-4979-a6d6-545af136965f phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:984d8edc-8e1d-40d9-8301-f725f74a86e2 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3424c3e2-2ebe-48c3-8a59-7737b8577b07 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:8140e836-0869-4540-ba8d-f50e8d33e6ac phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:18dd5508-aa50-4979-872c-7711c5834c01 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f6378f4f-7545-466e-bfc3-c08629c6925b phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d4c2defd-b0ae-438c-b4c0-d33e83a6bbf4 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e85124a5-0c81-4e3d-b490-065d6d163d4a phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:5f3c5a69-95a7-44df-8a44-224835deae67 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:1c6d2254-31f1-49b7-895e-19b319b9215d phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:ddcb4b04-ec28-4d8f-9564-f3093bf2eed8 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8430ac35-5d8d-40fd-b0f4-8281d544535d phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:34b0ca0f-e4c2-41ca-86b4-9360f995d9e1 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:285aad6b-6104-4f1a-9448-03009f55394e phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8538a6bf-7f96-48a2-863f-ed2ce3e9adf4 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:59e3c54b-91e2-4743-9a65-630f9e5c0336 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:efa47851-f4c5-4b0b-8069-8d5688590723 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:464cbc71-2032-4a27-beaa-e7109c12be47 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:e3c8bd7d-eecd-42de-bc11-e72b9e76022c phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:d0151cc7-5d87-4563-ada7-beabbe1e945e phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:5567ad4d-20ff-4f22-aae1-af945aea85e1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f279002b-2bdb-4e13-8f13-f0896b219211 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:df7ee57e-a9c9-4ede-b00c-5c617d6acb79 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:83b0ca16-f8bf-4d1c-896c-eaff910e5dff phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c7179e6f-ca69-4c0f-a962-1cd755c6f933 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:ba65de7f-a130-4850-ad89-3fff6eac1d72 phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:b215b4d1-0df5-4a0f-8e56-4b59e60a4ff9 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9d4635ee-b5f6-4661-b814-4a03bfaee064 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f3ff6924-4308-41e9-82bf-5bda67a7c78c phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:7d8f4ff8-74f0-4fa1-a102-80d9f273f85f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ebfbb003-1d7a-440d-a47e-d4ee3d5425c6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:5fe05245-6923-4b53-9b95-05a918e4c34d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:23a7617d-983b-4a1f-8571-a0de3a0e3de9 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:b2cd40a6-7fcc-49fc-92e9-c1741b2aaae2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c451c154-fc76-45da-8d1f-ce681839ec61 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:ff6ea745-6b43-47bc-860f-5ce5185d7b65 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:b6cf3b12-6d88-4433-9f8b-dca90e43d016 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:f73c5936-f958-4209-9699-5ad27d599490 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:55382edc-57c0-46d7-b14e-ce76e5071f97 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8d1ccb99-ad47-4628-92b2-6bcb458cb11f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:7953b999-a5c7-4aab-9a9f-7b2258cafd0e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:06da79a1-0399-4b8a-beec-a73a2290b2d0 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:8d9c78e8-0fe0-40c6-beef-a515fec8fa0e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:7210789a-1e64-4e6a-b00c-6d9cdd2c6a2a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:081f45f4-c295-4493-8564-549b475622c6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ef6ae44f-69fb-4894-92f1-93f3f3593cac phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:608c0af2-8034-4274-9b26-7f78ffb36221 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:214a88d2-dac6-4459-98ba-ca2ff8a12a4f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:6010556b-c7ae-4752-8b8a-3328e35fa1aa phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:799a2fae-041b-4591-bfbd-ddb8bf176c75 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a72d4f4d-0056-40d0-aa9a-eedd0d12ecc7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:dda2803b-067c-4a7b-b3c0-c7320213c39d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:55fa4ae0-1499-4cbe-b764-2d46fe4b5349 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:1e931365-fe0a-4f72-915c-fbf5fbdd15e6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:da0f0f18-1f75-432c-8939-86b327996567 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:e5c3d865-43f8-434a-97f3-a0d66904fc4a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:7cb278b4-f30a-4aee-b18e-250d87b59133 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:662d50d2-a4c1-493d-8492-8ee972410368 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:0992695b-7d52-4bfc-82bb-f8e458d35b3e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:d98cce3e-97fb-490a-ae90-f0ffa473d032 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:ec8feee6-4d28-4ac9-934d-fcd547106fb8 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2523a2e3-34a0-4f50-9d19-88fb42c6c6a7 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f9d47cb1-18b8-4708-a977-8c4fc4de3aef phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:93535a95-dbe2-492b-a323-0987938b1f44 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e11861c8-9949-42ed-9135-47990d44614a phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e36e503b-87ff-4218-b358-e2e48541a7c2 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9bb6e263-de39-44cd-8056-8f55d1d2545d phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:1de72903-5cdb-46ea-a498-65785a8d9f23 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d458f281-925d-49ba-a2d1-027811e225ac phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:96cbadc6-61f1-4761-875d-e30862ee5e10 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:a9b7c267-dafb-446c-aa3b-7e25352fdcf3 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:0288c348-2bb5-46a3-abda-dec1d5341a95 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:dbc6bc47-22ae-45cd-9db2-03008f52ab70 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3dc05883-4a23-40f4-a46b-daf54c225949 phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:2c81a83a-afdf-470e-92e8-61985b8ed0dc phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:44b19227-b609-4bf1-8dd5-5ce7f36f8569 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:b572e1dd-7e81-4472-af1a-6fc391cbeadf phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:de7b9bcd-1377-4410-8a4e-0eb1bf8492ac phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:71fb9052-bd82-4a59-9cae-ed9e0e0a259d phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:d62413ea-1457-46ee-93ad-b53af5f9ab11 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:8925ba1c-c32f-41c8-8920-a0f85d450765 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:4f2896b7-7e27-41ee-bdbf-8668245f8e06 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:12785eb9-e71c-40ea-8065-9204cd6ad559 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5cc3fcdb-30cc-460d-82c8-3e4359066b8d phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3c33b46e-7cf8-4e35-9e7b-d8940e6b90a4 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:dd1cef30-f2e4-4d2f-8afd-fcdcd5c07e10 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:dd2cec77-08d0-4a24-8021-ec3a095d85b9 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:79b4d5b3-aadc-45a9-a76b-42553fdb5691 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cb8980f5-5c6c-4740-872c-61d26a6a41b9 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ab404bfa-478c-43aa-b38b-37d7aa658b3d phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8bfdf6bc-cd69-49fe-b8c1-97e075874354 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:804c6685-1990-40da-82fd-9cacb039c94e phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:62ff166c-f652-4ca7-815f-9186d07872c8 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f4c818b5-18ff-44f7-afa4-56efdb752b3f phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:73e2b84a-6ea0-4f7b-98d5-586bcdc57e5f phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8e2966e1-5a80-4224-aaa2-a89f760c0a0c phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:62ac30c9-aba4-4bb4-9f9f-9bdad2e1dbc5 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:2708ac24-99af-46e5-8311-0c836f64b540 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:7f75b00c-f83a-4112-97ce-3e43d2bcce12 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:8705fed8-7918-4220-a30c-7a02177a81e7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8dc6c017-4f78-498a-99a4-884a505c267b phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:d0f9b486-c89e-4fbb-81d4-ca2d417bb98f phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-3 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:5e217cc5-97b2-40d9-b2ed-fc5b4e071b64 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-3 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:2880f345-40dd-437e-81ad-a8cfa5525094 phenopacket.store:SMAD3.PMID_21217753_Fam_2_II-7 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:7908ee32-91ce-4a42-98e0-0eb84597a9da phenopacket.store:SMAD3.PMID_21217753_Fam_2_II-7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:722263d1-c9de-4a4c-8677-ff90c521680f phenopacket.store:SMAD3.PMID_21217753_Fam_2_II-7 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:d607a643-9a8c-4863-8ee7-69d4a7293775 phenopacket.store:SMAD3.PMID_21217753_Fam_2_II-7 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:59499899-92c2-4b20-8c29-8164f587e5d3 phenopacket.store:SMAD3.PMID_21217753_Fam_2_II-7 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:03594838-42c1-4b61-bb80-63f1399aedf1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:cac9c11c-03fa-4265-af6c-5495bfb02b9f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d4048d52-d3fe-4647-a789-c05a8e6811d5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:4d76a035-b563-4244-b86f-e635dbb5adc1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:664fad26-2f89-45a8-89df-cbc6f2a237d7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9d04734b-d121-4732-9006-cabd46b5570c phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:649703c3-c3df-4913-9829-99c725dfc782 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:2b21f35a-286d-40a2-9445-8162ff5349a1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:dcd91069-3a67-49aa-90e4-29f3e53f57c1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:93f36556-e9d5-44e3-a3a6-49f3f2ff7fa5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:867751e9-ef57-452d-91ac-bf73ec53ee63 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:050ec5b6-4061-4272-92b5-0860109f8dc8 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:ed334b4b-f0b9-4995-a477-df6085ea371d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:a3440b92-cb1d-4c25-88e5-40ab3f8460dd phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:09a6a27d-9b4e-4898-a7d9-1972bb4f519f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:1ca246ed-1bf2-48ef-943f-f382b19080ca phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:09583f44-04e7-40cc-a4e9-9739daba0070 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:fbfc87a1-56de-45fc-88b7-e131703a38cd phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:15802d08-907f-4083-afd4-f38ceb8974bb phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:76d8ee81-d2e2-47f6-ae2d-b73d2ac39a35 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0ccdfa57-4fb5-4a31-8e2f-5bd4635d27e2 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:a1f53ddd-b664-4c50-8db0-3038860d3c3b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:832f00b3-f040-4bee-95f1-8d85c27cedbb phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:2bdfef61-abc5-4e3d-8a11-66a31e3e21e0 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c03bb4d5-4616-4c50-b076-a7f96fca150a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:539f367b-4c04-4381-9215-cc613f4741b1 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c3004fb9-f2f3-4595-b0cd-1dd5ee8e9597 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:5621490f-de6a-4163-89c4-01be01028e6e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:59b1914c-9f53-4553-9fc5-16942431241d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:38f446bc-e24b-41dd-ae53-4eda6b85a9f6 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ecdcda36-eee3-4d4f-9d15-d82f7db8a0b6 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a783ad05-1326-475a-9ef7-ade5cae5071d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d0d8dd7a-0905-45fe-bb40-717c08caf0c9 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0f258982-01da-4d4b-ae93-f90e1824185e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ac5377ed-30a0-4503-8465-a7cb3861b748 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:81e9bb67-0436-48d5-9bc5-20c461640c7d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bc5abffc-4c39-48f6-b60c-cf014dd0bed5 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:305ee6b1-c676-4a8e-bf02-344e226f641f phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b4205b13-4d5a-4ea4-8f2f-dab6a4a2673e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5cf60c4a-4b56-4ad2-8d64-dd9e348a1859 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:867c0954-ce99-460f-83d2-e0f4209859e6 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:48c5c546-0a98-4445-b3f2-1c8bff7bb398 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:5b4c87e7-9997-40a5-994e-cc26d78c67da phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:160248ec-1c0f-43aa-9de9-193fbf88f029 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ea36d52f-f031-4dc2-9255-2025a47645a7 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:12da77f7-6e01-4a55-a227-74b0d3f8c69e phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:95242363-b924-4f4f-a351-40dfbf2ea196 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:f85531ab-0d58-4bc5-840f-c2bbef44dd4d phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0f887891-61bf-4e4f-9ef3-f89c721788d0 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2777c217-52d7-433c-aafd-33502c2be66d phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6eb62cfb-c163-4748-9c01-f3efd21a5bf4 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c9982d00-1c70-4718-b196-c59a2293e854 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2d351ad5-4f04-4ea5-b6ab-fb996f9adbe8 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:985eacd6-a90e-4596-8e92-3f96d2c4318f phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e8dcb052-9658-48e6-bfd1-81767db5a60a phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cc87ab23-2188-4948-87a2-f4d1cba3ec0c phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ec397b2b-f777-4fe5-b8ef-5da8312cb4f8 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:581db344-4406-4059-ba13-3b9eb2e25e1d phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ccd1fbb2-9663-474c-bb8d-a441913c4323 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8dfd7d83-ec2f-4639-9f8a-449f1aa3e6b9 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9f46125e-31da-4afa-b176-cb0ec7390f29 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:55288ad6-9b37-41f5-a25c-222af762db0b phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e085ecc4-68cb-47b0-be45-0ecbdd5e1700 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6bbf4cd6-831b-4f9c-a760-5a9d69aeac40 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f01302b0-8344-4516-864d-c2b0ff01e840 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:d6c312e2-e5ac-447a-8047-8ffb1eeeb498 phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:9bb3d0c4-7ef6-41b9-801f-c532fe60c072 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:135d9c5f-2a81-471e-b7ae-a5a8d4afe6ce phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:717abd3d-3305-46ef-b5da-a7b1ab3b99b8 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d369f735-ed2d-4d85-8881-e11e07fccb84 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:7a1afa70-e87b-4138-8ea9-7aa7bbf7d627 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:49cf3296-15b5-4184-adc4-d4fb52a4984d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:7a2e7602-4bb5-4587-9122-66ba06dc4b04 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a7df91dd-52ba-42fe-b690-ae1e0c2d03a9 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:6ebc5ebd-9809-4ebe-8e18-07ce5c271c12 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:23d58dd3-dcbb-4e62-b9b5-2e0f2f6bf0a0 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:0fccc93b-fbc0-44c3-94ad-aa587b009c2d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9be16906-47f9-4e47-94e1-07325ddf2c6f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:579107a8-5f8f-4160-93d2-294b6afd681a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:dcddb57c-162d-4cc4-ba3f-5a1cc5897f9b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:64baed04-6d28-4245-96e4-221f14f0a037 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:aedf2dc1-9f54-45d7-8614-4e0d20c84406 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:9631abce-79cc-4a7e-9f02-3ddad557c001 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:38d18ee3-dfdb-446d-b3b6-7595caa3eae9 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2aa409ec-ed86-4de3-8592-6e8611ab8b66 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:83195f1f-4c2f-4e2c-a69f-4c1cd3af5741 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:09635f98-5bee-4283-9c6e-bb324ecc3217 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-3 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:051ac9ec-dfeb-4c6d-ac8d-8c7a5c643f1f phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-3 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:47b5f6a9-d7e2-4d2c-bb73-292135d0a85e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:72f8dd39-0724-4afe-85fe-682ad527539f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9f78907f-f6e4-465b-a0fd-c77f37249a89 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:96916c76-6de0-415c-bb73-3328700de50a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:95c59eb9-8c84-4e0a-8d99-749ee296db49 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ce31abf3-a487-4698-a4b5-90d03b39213b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:30bd579a-46f8-4717-8822-9eae09d7f73e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:bd69702e-6d5c-4fed-b59e-8ef6d2fd822b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:135d63e1-0c99-4c37-84f5-f5db32433583 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:cf7ff4fc-8b4c-40a8-9d2e-3e3ebecfaf9b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3428c64f-8b6f-44a4-a396-f502a7dc2b6a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:2b312218-7d55-492d-94b1-7553fbb3eefc phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:1b54715a-f901-4b0e-9c26-de2bbc816dce phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:02f06620-d476-472a-9da0-14372e63e7b0 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:4c3a63b5-182f-4238-8e7d-68d4544dfa9e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:fbd8a7b2-ff56-460d-9c54-612ff83faff2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:ddfe0541-00dc-4d58-aa59-2fa1b570e473 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:b5158e91-dfe1-4129-b2de-12e3e418cfce phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:61a41c35-644b-4e39-97ad-d8aeca12552e phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:91fb0429-9c80-483e-894c-15dfc03c7c70 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:a5a9a8bc-bf81-47db-8a4d-41044d4498fa phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c9e8bf24-4a2c-4c93-8d06-5a2115e4d9f3 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:008ac1ca-cb0c-4b57-b475-e45505449f99 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:cc3bf030-ea4c-4529-9f1f-5d6caac698ee phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:2e9eb5d4-74c6-415d-a58f-7ff396697088 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:63ba8443-8489-4214-bdc1-2f59f7c474ca phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cebade13-bca8-4519-a029-0beef7581f43 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f1642683-ee5e-4d34-8b57-18027ff906c0 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1f0134bb-a212-405a-9aa4-75afa971c2a7 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9ebd8252-7efc-4711-8db3-c9b431f95fb9 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4c9cff71-b8c1-4fcc-b7d2-5866cac875c7 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6889573d-5bf6-4e0b-bb45-cfba1ddbfa9c phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5f11b682-abb8-41ad-95fc-afb1389628e3 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d27b7e52-d9ef-4aa5-a54d-3a9b980d8ffe phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0b65b26e-2685-434f-b372-8caf732e410c phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bb4e9fef-0942-4c31-b49c-76997092f010 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0109b148-b890-4841-818a-a707e58da314 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f5f57ca1-3d27-41ed-b1c6-abd4b96b7b53 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:7e600b14-ac31-452a-aa51-7e57784f7cdd phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:91810f55-52af-4183-8486-93328aad397d phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:809f59e9-5a0b-4a8d-8801-a3d02c9b3433 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1871b220-7c61-496a-bbb3-b64c40a349ed phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a1d18473-645c-4e0a-b0c1-10fa7d0fb72d phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8df0dbaa-757f-4c93-ad38-57beee2522b6 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e94788c8-3100-446e-aa89-7097d2f60c97 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:94ebbfe6-70d8-4734-905b-aa6cbb5dbb68 phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:dd484ce1-661b-41e6-ab05-3f760e088515 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:4bd83ddd-3e0a-457e-9e4d-613f7fa5a7a0 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a3560492-e728-4b13-9034-2c0cedd36b72 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:69326da1-6a54-4b03-bfb6-bcbb3164fedf phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:74f0a1dd-3b93-42c0-9d1b-9c59651c2c30 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:81240e5d-9791-47b2-9fa4-4767ad6ad15f phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c3f8974d-f2cd-4f84-b37f-dd83d8a8058c phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:6e16c7ec-4fa9-41e2-ac74-90df66efe797 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3decaa7e-6e04-4054-bef4-764637304121 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:871e0f47-095c-4988-801e-7fae5ab8a37a phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:a7d2f1bc-4c0f-48f3-afb6-84d5c10647e7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8dd1d655-bf38-4577-ae1c-b2512db43dca phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3752b05f-b576-45f4-a28a-854d74ff371a phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:24fb5030-c59a-4089-be32-6a934df53908 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:fb83a089-3ece-4176-b582-c9a1d1288b2d phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:60147939-baba-48b7-a033-1607f6204866 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:a357dd21-ef0d-48ca-85d8-799156b479e9 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:01468282-047d-4378-99bd-0076217508e7 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:609b8289-93a7-4f0c-aa63-c67540f92e6f phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bce877fb-3592-4d8d-bca8-9807553614f0 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a0040b3a-9bd8-4403-aae1-321b555a8366 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8553b8dc-194b-4416-a671-4590f32ca99a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b907017e-bff8-4db2-830c-94c7af92a3f3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c944b4ad-2125-4e00-8bb4-981ac3e53ee1 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:82042aac-72f9-4f76-a977-f280d4cf79ed phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4b21f937-978d-46ac-a300-a72139162d7b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:38cc3f5b-bc9e-43e0-8acb-7023b73e64b2 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f2be78ac-425e-47a9-bc27-c65f4dccde20 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:af67dee8-8ba7-4423-90b3-c3295c6f888b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:e146b96d-b955-4322-861d-dc693d273e38 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:9c370e31-2039-4f14-b01a-fd92536411c9 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:5a63f029-f6a3-4847-908f-1c13df2a7faf phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ac6c6468-11d2-4457-b4ac-bf41959e06dd phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c1aeaa11-bedb-4a19-af72-e999cacf733e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0ec8a152-53ae-4356-995a-0801e9aa4fe9 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:6e737a0d-6c71-46f9-9862-552512be0975 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:54cf4ace-8073-4505-a121-e249aaa941f3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3e0d1a13-3c97-40c4-ae71-1b5187efd8c9 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6bcdd548-c4a1-46e5-851b-2ca3b7d256a6 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4cae545e-1694-40ae-80ae-d5a9fb660bff phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:44797ee8-499d-4176-9c9d-d86584129e99 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:02f9aef3-c3c2-4d96-a3a2-e60d6a55faaf phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ec51c130-ef8d-4a8e-aacb-71f66353f894 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e0b45faa-b83e-4824-adbc-7a942dccfb05 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d1c756d4-c7f6-4282-892f-d70a0e906fab phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cc3f6a14-f6fc-4c91-a235-9a55357b7666 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6c60f0c8-a754-4adf-9009-02548136cd7f phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:8d783a9c-2574-4693-8bcc-8521965abb18 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:ae9563b1-df9f-4cd3-ac1a-2c105874a720 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:b4db84f3-01a1-4559-b70a-f2c6a87bdc0b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a4b05b8a-e9ad-4f2c-ad60-4238dda651d6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:6bbad076-7522-4c7d-b31d-7c93fab7bf9a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e22e5ba6-c278-4a07-9b7f-79ba754c0858 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:dda82b42-d72e-4d7c-be2b-aa7037e34ea2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:3a23a6ea-e36e-40fe-9b1c-ffebd12af644 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9c68ce20-ff5a-4e0f-9fff-7f10e1f3dfc6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:2b3282f6-f477-4cbb-86b4-0bcb771cc4e1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:b352ae96-9f1b-455f-a676-905f60265a30 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:7a8347a4-3959-4220-81e3-e7d47221af5c phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:6ba4ddc2-9ac9-44ac-83dc-93e9ddaa3fd3 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:f14d7360-f1fd-4966-96ce-2bc35ef406a6 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:e82a38d8-01cb-4b8b-80c1-2917c488e9a5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:7ae181be-0d40-4321-9c1f-412035e8af7a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:d33c0042-1290-43e5-a77d-1be6f2735866 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:cf958ccc-3d95-41b4-a192-e1f80372dc6f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:1ff48e27-a7cb-4b40-beda-4089ec2a30f7 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:bdbbcc7f-818b-4bc1-94ec-8caf82d4b7cf phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:837cd2a3-1881-431d-a292-9d0c7ba06952 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:7b446a84-75d5-49b6-a0bd-d7de940f1b52 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:de67b734-dcbf-4f19-88b0-b36c0446f47b phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:333db6fa-af44-4521-9ac3-036a995c3f82 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:ef08e4f4-a41d-4264-bb11-14971e03b024 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:4081dc41-859e-404b-af8c-0827deb071c8 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:7846aeca-797f-4154-9c01-58d73aa80276 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3ff5107b-71e1-4880-b999-71dec679b724 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8ada75f0-b949-4b37-ab95-1d2be5d55b1c phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3b7cccdb-0d4a-41f4-bdad-1062a63ddabc phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:4b0ebed0-92ff-4821-a674-027e8f2bea06 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:5b9e6565-3eb3-49cf-be3d-f0058cde452c phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:1bf16118-00e7-4466-b1a3-a2dfd17186b5 phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:34cace20-b27f-4196-abfe-a2503b33cd3a phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:a565c938-1b69-4f97-90bb-301eb87db966 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:404bf867-25bd-4ed8-86ec-cab36c4545d9 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:6d67fcf0-f6de-42c8-ab43-1ab07171e381 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:1f223baf-f595-4753-8d0d-ecab536dcf3e phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:f9b06f44-1693-4958-8678-a8db35c82c1b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:daf3bc91-dbba-43a8-837c-6df5f3f6bb71 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8f53eede-2cbc-4b18-9ab4-efb9e77c006a phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:617ad5a2-2d74-41e9-ba6a-c02a05480904 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:774be343-e0a6-4115-b7a7-6d4706703c3f phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:22bef250-9169-4579-8ae1-fc3833c9cf1b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:94f1994d-7d73-4e28-8012-c3cbdb633218 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:934d94d5-0c2b-40ba-86f6-a754aeaec008 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cf45d4d0-2424-445e-aba9-5c0b0090a459 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6f0492cf-a1fe-4f56-a3cd-6e2f97ef1d9a phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:47dae443-d685-4e23-94dc-4730fad78fe8 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e4e43e21-d678-4c30-a960-4811f0f3e45b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d36993c0-ad59-4477-9969-f4f0aaaed24c phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:287de03c-556f-4850-8af4-8e293b8832f2 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:fd87fc14-72c1-409b-9048-1df4ed03861b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:b023bcb1-7d4b-4e22-b953-223d5522d421 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:20ef21a7-07c4-4c8e-9313-466b961ed0c0 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:a3010404-b6c3-49bc-a389-0f2ffd080a74 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:001c57be-ad76-4087-b380-7873670add22 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:2467e6f1-6749-4bfd-b9cd-a2bda4d6a535 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:cfd5c066-b78b-468d-a67b-d09662f5c162 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:41a3349d-7da6-408e-8a32-cca6b62fab36 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:7a4a1a1c-96be-4006-b52d-3289d67ddb4a phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:60364449-e8f8-4115-bd4a-4ec589712753 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:782f3cfd-f653-46b2-a351-22594ca11bf9 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0f158f38-54e2-4943-a058-16223a8346d4 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:686d6770-c59c-405a-a2c2-cc4fe80a8e4b phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:46132f7b-d2b0-4e09-b281-4bf2896b8c74 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0a0fa0c6-bfa0-4416-922f-05c80660064e phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c286a9ed-d215-4398-9823-89d59e52b335 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4973e5c5-14c8-4db1-9afa-7333f5e19fd4 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1ddc0764-3334-4d9f-a6c7-87b5888d01cb phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c6c19c4e-97c5-4cfa-b73d-a52b702ecbab phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0546b4e1-482f-47dd-965b-25f24609bffc phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:f56a4b9d-ef13-4b3c-82ee-42ea935cba7a phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:45112803-cf71-4756-a36a-f8646335fe3c phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e378596d-21dd-4a0e-bdc5-db7d2d82cf10 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:18c84e96-d095-4c42-a562-4485a2410fae phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:2c17d0be-6243-441e-8e38-7f2dd2024d08 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-3 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:dc5f9709-5cf1-4aed-9f89-e9729e555b4f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-3 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:aa8c12ad-8e93-4e96-bf42-bace231e2ee3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:50f915fd-2c85-48bc-b788-2c2d394de3f4 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:4c7b94c6-f9f6-40b8-a012-a45cff381055 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:82d51197-7ed0-49d2-a6d1-8715bd9acea3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:dd9765e8-3b26-4096-9d3d-5b50e646a86d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:1d95f996-b1e7-45d5-8c43-d0bab5a22753 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:60419cf0-fe13-487d-ab6a-8e82fddf7786 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:07cf2427-aac0-4a3d-bfc3-f39018fc4850 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:aa9052aa-e466-43d2-81c9-eec0aa494810 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:56878167-4a8c-4b27-a1b2-239d4a3f9e08 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:974b6ead-bab5-40cd-a801-201b8418daf4 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:792c0a14-18aa-464c-920c-0287e56d0823 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2596db30-9a20-492c-a62c-a7f265110bac phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:558f13af-c7bd-4d5a-aa53-c1a1f5ff394b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:90817428-5b3b-4225-a3fd-1eb24dc25bf8 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:08107c8e-9469-48a5-ac53-c77fec1d80e3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3a4ef9b9-520e-4bab-aa36-5ed320339637 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a7b82ee6-1863-4689-b86f-f8bc8d61fd5a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4e829137-28b3-4450-b4e2-092feb161d28 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1370f21e-cdbd-4ad1-9092-a50ce7c40766 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:391ab290-10c9-4bdf-91c1-fcba9312e215 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6c7635e0-492f-47ef-b7c8-bde93e867007 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:41a5e018-c962-4d54-ae5d-76882ef21172 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4422267e-6959-49fe-960d-66121ee6355b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:16eb0408-c443-4371-b477-8957cfe00716 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:8111bc1c-855b-40ab-b1af-495cfbc487ee phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:c0fb45a4-b04d-41f3-8360-8fce4f512788 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:3f30ae97-a22b-4c74-86da-3ba7bce844d1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:fb1c99d7-6e2d-4a73-95fd-0af168eb10d0 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:0db27721-7383-4dfc-9449-ae5cbedc0d5a phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ee25b7a0-628f-4887-b08b-79e08e1c48f9 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:8d32df97-fc35-4c18-b60a-a5e91bb470e4 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:42026867-de6f-4e35-a11e-90258f303703 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:299d0bcb-ff20-44da-a1f1-88350f2c7704 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:cba2d207-cc12-4605-aea7-43ba24750271 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:bc7eb102-4d1c-45c2-bb05-de3874363f7c phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:709e27eb-aef2-4715-ac72-1b2ddb75da1b phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c388f8db-c4c0-481d-8878-65efde7be2fb phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:b00cfa70-054a-48f9-a25f-f8b993dea14c phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:851e87d5-99a3-4320-8e97-136c05762c0a phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:a7812b82-e3e8-4e57-8162-9d16688ad158 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:f3211ea7-e287-4406-98e0-689f66aebbe2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:57ddf934-fa01-4c04-91dd-383166cc9d90 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c8aeee1d-8f2a-4f32-bc40-bb6f1c9d6560 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:cca0bdd6-78e9-4982-b89f-922112e8152a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ca7e6b4e-b0f6-4abc-b8cb-e9800bb61bfa phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:321ba464-667f-4f7b-acdf-54778a7cab17 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:365fb3e8-e5a9-4d55-bb65-b66024335f42 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:a304ca91-79d7-4e17-baef-9d1ff9426b2e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:cacae57f-335d-4578-b414-e9da4c9c121b phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:3521bff9-c388-41f0-89ba-5dece7807feb phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:6bc6679f-6c37-49d4-824d-26c6f218618d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3d1a7eda-8b95-4956-9223-d0acb557ee0f phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:efe87a90-2a5d-47fa-aa8f-b514f72b2caa phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:de001313-510d-4002-825f-02b05544cebb phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:fab6fdca-9e64-4016-947f-53a1d713c875 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:57ebb2c0-88e9-4167-b5fa-af8fc0b9cccd phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:135f608f-0028-486b-9d29-2ceb539d9036 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8407f9e1-29bf-4981-b32e-32a6b839bf82 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a3e54316-01df-420e-a992-49937a646e30 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:27fca486-3250-4350-826a-718e01f3c6b0 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1658f735-e5eb-46a3-82ae-20b1c977cb9a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:32246d77-a9b4-43db-a74d-6532800c4487 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8dc2e1f8-3dd1-4de5-a173-922bee502add phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:770cb7b7-a91d-495e-9c9d-fe55c9195cda phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:cc9ba8ae-302a-4955-9f56-9e30c7387e4d phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:36d3cec8-d010-48a5-8a00-fbc9cd433043 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c91d19b2-0f97-4088-b1ea-2d88f342db50 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c96e211c-a5d1-4f60-a6b2-a1a38f3d3cf0 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:c62a2049-bda3-42aa-9b04-ff1b3326f40e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:b0d54a17-fd16-47eb-81e9-f605ec14a7d1 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:7bf493f4-7796-4363-9a41-3c9ff66ce5d3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ddc05be5-bf00-4798-bcad-4d7744ae1f39 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:3fe73ec4-d6e5-42d9-8a43-d3974b4f7f45 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:afca70ec-a805-4af6-8b3e-37976327a6e3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1272d022-c425-43d7-92c6-d81c32a3eb75 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d8fa5f26-a4a2-4e70-b6ba-07340b918cb3 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:26a8b881-3b06-4de6-9bf0-edf06169d34a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a7c7cc64-0282-4964-a021-df1408ab444e phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:de46c027-eebf-4902-8372-9e830313f980 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1a981cfe-4102-43ba-904c-61ab1b1ba9a9 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b8be616f-921c-4044-9f30-99b45eab5c19 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ac86e3d3-65da-4104-91bd-c2a5e8fa604a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:02a50d44-4ebb-49e3-ac03-3c372f30fbc5 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3fa74deb-bd5f-434e-9724-596d32ded91c phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:10bccc71-06c5-4eb8-b156-4ff1fe20dd2a phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b5739388-7566-45cd-9a6f-58c13f8408d5 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c31d3620-f614-4040-9bc9-3adce163bfc7 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:0d83fd32-82b3-4503-8a02-d1305eb31cea phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c87a7b03-aa7d-4af7-8d99-7133b04dda0f phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e319a02e-6474-49ec-964b-3ffc77ba50e8 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:4db3e37d-5551-4229-b59b-b9c44a0e8d64 phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:8c0453ce-7326-4fca-ae20-fdfcb40e899c phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:677f8b62-2e19-49d1-8469-f4e4f279ceda phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:9e794713-d2f1-4cd9-a623-cf15c1789af3 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:80337ad6-aaf1-43fd-b266-6c0418d4a86c phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:60470488-ce7e-4ee0-9bc1-91c578b44c5b phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1cbb0fe2-4345-4772-869b-e9900335bbb1 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:655608ab-e69e-4fcf-b125-e369d2a650f0 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:27b472f3-8096-412a-b820-2f75db54d10a phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2bb91256-ec16-409b-bf24-17968fab5a80 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:efefc142-0245-4a05-bb8d-be2087d18055 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6f143cdf-a69c-42c7-a72b-d98291451baa phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:04fd2414-07a2-4726-8d36-bb0ac155cd32 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:54712028-f1d0-4d51-abae-dbe49a284265 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8a19f906-ed82-4d2a-9f43-faba3abb8fa5 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:51821bd8-dfff-4393-947d-8b6f0d88f4e0 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:394138fe-bf7c-46b1-a99c-5bf89eb096c4 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:badd3193-71c5-4337-83f6-04f48bdfd72d phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:73171051-759c-4610-b559-8e8332c6a571 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6a7a179c-f9a5-4852-bc02-1567a855c98e phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:151471be-0979-4be7-a381-b56a6287f76c phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:37a19d3d-f1c3-43a1-b22b-663b41c92fd0 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:036c8f7e-768f-47f8-a0c2-38200aab8930 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d91e4577-181a-4a64-8f27-7d6f1ee43d1d phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f7982f35-5a5e-4882-a73c-b7ec0a7215e9 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:ad47b4ac-efb3-40e8-9fc2-c37343c66be6 phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:28eff285-a0ac-4066-a896-87ae1f9ae5df phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:945ad4ba-d7f5-4cba-bc04-745822dc9341 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:c1735e12-ef96-4bb7-ad2c-6dc4b140a5fc phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:0b1ba00a-8549-432c-8786-bdda6475c3d0 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:cdb8558e-f1bc-40e9-aa9a-0a93df2dc196 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2acde9fd-fe68-4dab-bbdd-d1fc477973f8 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a62d84dc-7b3f-4627-97d0-88da592f7c14 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a18811b6-e2f9-47f8-aced-2210e163dc86 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:0932ca61-fbfb-471a-8c81-6b68d51faa14 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:78dac8e7-b1dc-42d2-b56f-d640a52307d7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9f6e2866-17fe-4335-b521-c17415ae1e3a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:cb8d12d7-4ab4-4f16-9b89-0e95ffd1dffc phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:e50b868a-30d6-4e5c-8d51-2aaddf03ba63 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c6cea2c6-8872-499b-80f0-ef77a1408540 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:2a2d8378-055e-42c9-ab0c-8dd44a05d77f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:21e13dae-907a-4df2-8117-804a9793f93d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:cbe1f985-116e-4df0-8763-0989a99ad6ed phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:d1ecce00-5fff-4d76-82a8-e789c4f90181 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:233f85ce-34c9-40e5-a894-a871a69d57f2 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ca743126-2cba-4a60-b820-5ed5de4e2306 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:052e8be6-dbf4-46bc-bbfa-fe72ca628e61 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:b28668cb-b106-4d5e-8478-f7b3d62baace phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:3e27cc92-2b1b-4539-b6ca-fbf59bfd105c phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:1feb727b-afad-4e8c-8b3b-785db6fecd6f phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:aaa165c3-6bef-4c32-a8c6-441f923781c3 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:16d4168c-790e-4643-bb88-9c05aa0e716b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2639d97b-d218-434b-ac77-c89be4a8ce6c phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a7d9f246-7c94-460d-a65f-5f796325942f phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d4df1752-c8f9-4c9f-850b-037a21677d0a phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:910a5294-1780-466a-bd6c-67cf36a28729 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:53406f6b-986e-40c5-8fe0-544b7b2863d8 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:7f3de2e3-e41e-4db9-ac1f-d78e42507290 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:515c221a-1b94-48d0-820e-d1f5c854b3c8 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:945026d4-db4b-4273-ae4e-3c55fa3baccb phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:78b63491-f0af-48ba-98be-12d1f180833b phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:fc3e8e8a-02c7-42b6-aec4-cdc26cef93b6 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:706cffd2-4330-402a-85ba-cdcfeddd1e53 phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:91f7385b-04a1-4a31-b0a2-a51be0b0ed60 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:835d0c27-baa4-46ce-9e9d-d2255e6b49a8 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:3c99c50e-e0e1-46e9-a7a2-11df1b870920 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:df455751-18a6-46ed-b806-dace7577faf6 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:b5025859-3956-4ee6-94ef-eff10cef9dba phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9021595a-d517-4c99-aa14-f2078240df2f phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:89d1377c-ed27-4821-a4e5-acd544d8fef5 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8e9c40db-dedb-4b1f-9f98-67ef74582aa2 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:49e28e21-01c8-4acb-9fbe-88078a1ca61b phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:11f466c5-c811-4be6-bc64-13c3ada3e8dc phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:629025d5-6128-4ddf-ad28-1c5cb6424a77 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:c790eab0-e567-4b25-910d-66f106715b7b phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:96933bf6-174d-43af-be86-eacd89fe3e60 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:840c2150-53a3-41f5-911d-43ea01b0e0dc phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:3edc4e28-b16f-4dcb-84c7-6d245820b556 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bd373b8d-5b67-4691-835e-0f7dc2e37b60 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:68774238-c862-4706-b46d-cbe25e41a825 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:d388a050-1bb0-4539-bf6e-1c3cdc7eb764 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cfab14c3-a451-49b3-ae29-ce49679a85ab phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:dc90364e-f1e2-4111-88be-e2d145ab3f09 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2490ccb4-8217-49c8-bbe7-d99ec3ccb080 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:9b64b07b-95ae-4d5f-b8c3-29247eed7962 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:485c5807-2159-4771-a671-9ac3f4fab7e7 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:67ba5aea-9a3d-49df-ba1a-8a81e039658a phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:60207db9-f82e-41cc-9ef8-e874f0b24cd2 phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:b9d0c6e9-e40b-47cf-8568-5f1932e48f30 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d243fc89-fbae-4ba7-bdee-5decd9c1ee14 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:769122e8-dece-4bff-9ada-3e4c95a25be7 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:b74179bc-3fa2-484c-834d-97ddbc2ad5d8 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:8e3a236b-4c62-4663-b553-13506a554f29 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:0c8f9bc6-a7cb-4a61-9059-5c5a6a8c5458 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:41a5637d-a166-41ff-8e87-185be399bbbb phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:aee8f5b1-fcd1-4633-9d8e-fa89ad2c733b phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:cd99100b-47c7-4c30-9d5e-76234f00084c phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:525360af-f51c-4d4b-9e7a-61c83b8e2e59 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:418a7601-960f-4ce8-b20e-cd2e489d4515 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:3304f81a-cb64-40d0-adac-c685a7f1106a phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:043020c4-3f8f-4eb5-b398-124737729863 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:5f5b109a-90f0-44fe-b1d6-35e07e3f4752 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:3c6dfd77-26b8-45d3-9d02-e0ebc624174f phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:8038fc3b-8d7b-409d-82e7-159d613fb71b phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2863131e-09b7-471a-a021-06303f451f91 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:a295d21d-bd01-4cb1-a1e4-13bb8392a174 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f03dbe29-81e4-4cde-b3f3-ea8475cada8e phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:4f6bb08b-7267-44b9-a7c9-e2c9065a6a2b phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3aa3f93a-3e23-4470-9bca-e1f99aa31e5c phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:a04027f5-3970-4d6b-a341-d2692f3b9c16 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:bd361993-eae3-463f-9021-25794a605544 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:85531abd-1b9f-4350-97f3-18e1eb239f96 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:445676fb-3019-4435-8299-8f5578fd6d7c phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:da15234c-9232-4d05-88e2-a18924ccba7f phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:3008655a-aef8-4e15-87f6-fee6cad7a20f phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:947bd562-4418-492d-b342-057871172534 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:8309b985-1188-4941-a044-2f248b999c0a phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:9811f046-2a49-4502-b2e1-7969e72504e6 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:86c84449-f17f-43db-b3c8-69a172b8a2fa phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0c7ff1b3-7ed7-4dd0-983b-280b62592972 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:1e68b551-8ee9-4631-967b-fe7901a4f5ec phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:48f786e2-626d-4648-b6e9-498f67e66789 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:e47ce233-99d0-4303-930d-69df3236c6ea phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:10fa7afd-df60-43ab-b963-2b61f745a28b phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:18f92458-a223-4aa9-9728-ffbde2af9469 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4a0e28b6-d84d-456b-8413-5b9f0289c3e5 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:87de70bd-2f5f-4fee-8255-06d260401f09 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:8f3c0add-bec3-4236-9860-cd45348f2333 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:fbaa1d38-3b2a-4179-b0bc-dbf505571510 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:5417ae78-dcea-47a5-b75d-4b037301e8bf phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:86a2c421-4caf-4ac5-8ad5-15b7040a663d phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6ae0c02c-d222-4f5e-af2f-04ec4a9faea4 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:601db4f8-0246-40b8-af15-12a49c323680 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:96034c7f-40fc-4fa5-af60-b840dc829028 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:97453d9f-3a36-44bb-9605-f70610f6f6d2 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:cfa32095-ef9a-4c03-9ea8-1b78e354c305 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:f2a313f7-3284-43b7-9d9d-ff1d168cda4d phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a5dfae96-4a31-4c24-80b6-fa7a93268d7f phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:6f6a1ff7-b5d3-4a87-b7ff-66691fcec2e1 phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:c5e15c0f-bf42-4502-99c5-7d6f0386031d phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:feb1aa63-f3b4-451e-9f75-a1853488cdd2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2bf0d620-40aa-40db-97b4-b2abef7b48d2 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:94db2606-605b-4f2f-8b8b-54b4cf8a4900 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e3d37e5a-d263-47bc-a206-ce0039223baf phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:38dc0ced-f100-4d1c-98a8-7bf1334822bb phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:857a96ff-5611-4446-aaf8-6d810bc440da phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:c8a6a901-c82d-400a-af66-9690575121d5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:0d7a9744-f154-45fa-8270-d8930d836034 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:e98239fd-399b-4973-bdca-cf8460a53128 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:2d4b41b1-3f3e-45ee-8a3b-91d13bc90dda phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:4435dc2b-f2d7-4738-8f58-23fe354aad50 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c98ea8cc-87e0-47fb-abe4-ae7a6a6972a5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:eb101e9a-d152-42fd-9578-c2107d7b883d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:5d45d481-a889-427d-a731-a9303468fdf1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:b632286d-9265-4cd4-98db-ad649e001b54 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8368adff-c192-4e1f-8eb4-8c19c4a2b40b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:9c37f7d9-8d60-4939-960d-c760e6b8a533 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:8af31de0-5570-48a4-8488-3cbee8bb828d phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:de6d5358-e45b-4f29-8ab8-ade06931724a phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:ddb3fa69-95da-4393-906b-e420a0733be3 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:b2cfcd1f-e4e3-4814-b726-3ca7f28f6e9c phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:402b4eca-b5ab-4e20-bf6c-08e6a5ef27eb phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:fb9db3a5-8e0d-4944-a837-76207bab1227 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:2a22845d-e416-4a7b-b824-1c02a1e10e22 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:fdfa39c7-3a80-46c0-bc20-41d8271d27af phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:0ba68934-4dca-4e6d-af4d-5f9fc38631d8 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32154675 uuid:50f54002-6f71-41e3-ae25-34d20c7add3c phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:73bdcad5-b29b-4957-b7f0-d9421c6f207d phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4f768c98-3e24-4ca9-bcca-e8c7de37f8b3 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:2860ab51-b16d-4271-b4c9-3a824dfdf478 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:a66fcfa1-cb92-4271-9265-72e447a78902 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:28a5ac6e-5791-4bb3-89eb-f3bd4b4f61b1 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:bfaa6b36-f4c5-4bdd-8e81-e5257c140dd7 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4e63cd74-9a03-492a-bf9e-ed004cfbbd66 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:ee813a2d-818c-4880-bf2d-af28c8b6807c phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:325f20e6-2859-42ae-ac74-de4bae670705 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:404294e5-cf29-4ef9-8b65-0c698987095a phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:efe690ec-a228-4f77-9eea-bdca732f5b77 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:4581d706-8fef-48ed-8bb1-45505ada6278 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:08c992a5-412e-459d-98dc-5edf60c2a0f4 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_phenotype HP:0002108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32154675 uuid:343ac792-c155-4b50-ac79-1d04cc9a53a6 phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:df99e91c-6dcc-4f04-90f1-247910cb561b phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32154675 uuid:70c8f8b9-909c-434f-bc58-a0be089eac71 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:c2a3438e-9864-4a1d-861e-55e04668f36b phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:18d6bdc9-327d-49b4-8241-8bf431d62384 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:65fffa14-1b27-4fe3-b86e-2d6726db0016 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f20ffc50-ec44-41bd-bda8-fa2e3d076551 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:58867ed5-a0b2-426a-b057-16389d60870f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:13c4c4d7-fd0b-4855-bfe1-1fa2023eace5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:d8dea0f6-4d03-4730-9780-beba9b862d92 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:326fc5a6-7b2b-4ce2-87d1-ddf9e3baf892 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:31ff614e-8b21-462e-a609-dff3ae0b839e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:cecb9e02-eae5-4d08-bc30-244b35a3f26d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:724f5845-6018-4ad3-a8ed-87c797f1b1ba phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:02d43e39-8980-44b9-8bf8-a8b385474f09 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:2bb27fa5-a0f5-4eda-8dd0-66c08abf7cd5 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:150cd85f-cdac-458c-a269-541a40d236ae phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:920f925b-6031-44e8-8401-8c0dbf930f7a phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:5e4c8158-67c4-4b37-a35b-00fa4173725d phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:70749257-337e-49c5-9328-191870833f54 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:70e5168b-6515-44a2-bb21-7e7c7e8fa127 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0008419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d05ac6e2-2038-48e2-bbfd-f29e6352d843 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:81b18a07-b489-452d-b940-b69ddc633930 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:b5f1aa39-e85e-4672-94cb-c357d18670c3 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:d3bed8db-08cd-4034-9c89-98d34464e055 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:f99051c7-6a2e-422b-b148-ab29f749b069 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:4a2d6420-db78-4f84-a456-97822f4abbbe phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ca658b06-ba75-43b1-a28f-80881ead61be phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:9cde07e0-ad3f-4586-8f0c-12458cf8d4c9 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:fdbe42dc-1831-4537-a635-922b9af7d6e1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:ae4c4cda-2bd7-4660-b5bc-6a2298ad5622 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:bb5e817a-15ba-48de-a316-00c952ae2c72 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:d0cac574-45e2-47b6-8aa0-81ae5d3c4d5e phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:29e566b4-846f-4302-b0cf-863d96decd16 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:7d9b9083-2548-4b22-acd6-21431cf54484 phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:e0cf7332-b680-47bc-8581-eac6e948538f phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:fbfeae47-9cc3-4ded-9c01-06587dc8d469 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:ccd99d8b-9bfe-4a59-98d4-eb63a34725a4 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:19d1b6d8-f1ad-4ea1-a680-1b83b1ff16c1 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:352d8925-a63b-4716-b0ed-bb2276b8d61d phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:cc1dc0c3-dd55-47f9-9893-c87ab5aa93b9 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:31f6fae1-c2ab-4a75-95e9-f052d1abd33b phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:095385a9-7318-48f6-9794-66980382ac62 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21217753 uuid:32bdd0d1-1bc7-4603-9f06-995c6cadd125 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:0c04afac-1f15-4175-a50c-11d43b41fdfa phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:3dee4746-e646-4f55-84b9-dd3c94008f19 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:c90a5949-45e3-4399-987a-139c84fd0062 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:61330b1d-d204-465a-81cc-2bf90d399a5e phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:1ca7d808-6270-4f3e-9317-5e11d8d1c567 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:8a5b443a-a58b-482b-a6a0-6dac81b4597e phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21217753 uuid:d7a409a8-e4ac-4e23-902b-164a247dd5cb phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_disease OMIM:613795 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:d5de25c1-8d30-40c0-83be-065ea4916788 phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:has_gene HGNC:6769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21217753 uuid:8243a150-30d8-4cbf-b9ab-5c2dc7ea8fa0 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:f868eb21-e8e1-43b9-9821-06571ca8ec7b phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:32d7d3d1-64e0-49dd-b199-e420c58391a6 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:2e9bed33-f2bc-4433-a75a-cf3516489224 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0000385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:29f34eeb-031a-4686-b886-98c8a9700b37 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:86fceba0-0297-4da8-8d2a-f0f309f531d5 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:319e5f05-c473-4e9f-9694-904f23325281 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:1d3b774b-0670-40fe-93d6-891ac707e931 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:f337d52f-4d01-43a8-b3ae-f68524496f86 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0032152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:36447319-16af-4076-b201-8375ca8b6005 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:6dc779ae-4fa4-44be-aa50-b31547e5204a phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:0402ad59-b068-4ad3-a021-f3482e972ace phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:321f45ac-8d69-46cf-828d-5e82b26a3e3c phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:24715504 uuid:b126e509-3791-4153-83e0-7f3658a9098d phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24715504 uuid:f76b27d2-4dd2-4077-83d7-377065022668 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0009088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24715504 uuid:2c50b941-e894-450c-8896-43cc1fb202b0 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24715504 uuid:84c38a92-004b-4207-b371-dd75202cd2d7 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24715504 uuid:df5b8c51-59ae-41f4-8b55-cefd442b8d3f phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24715504 uuid:68693983-872b-4f12-9d7b-046fb6b75a94 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24715504 uuid:5a1205a3-297c-44c9-b3bb-fb9ffef865f8 phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24715504 uuid:2398c095-e9f5-47bd-972b-484f63fa8c5d phenopacket.store:SMAD4.PMID_24715504_patient biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24715504 uuid:8630574b-f5ae-4bca-865c-a0816cf56cec phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:649ec7ad-dff2-47e3-908b-32a583891d39 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:808bc75d-b168-417d-bd26-6680829790a1 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:03f14405-f185-40b9-9453-b3693f21cdb0 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:fed5ae36-807e-4f15-81df-d69b7046c06f phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e7914512-d6cf-42ef-80e8-0e0acf27cc0c phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ad5377b4-65b5-46dc-b4db-0491281637fd phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c15f17fb-82ee-4749-8687-7cdcc75df13f phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f1490a80-408e-4b93-8373-c580a8ca0a79 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:3b194fd8-836c-4030-ac5c-b04243768553 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c92159b8-3dc2-4a5f-9719-9c49c77db801 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:b72c3818-d5e4-44d8-b4b9-be6fa624f668 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:084a0a36-acc4-4ccf-844f-68db8954da14 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d7fa222b-3515-43c6-a258-4d76c3aeb92f phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c2fb1723-2d3f-45b4-b208-97f80b3cb70d phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f9a2fa63-ce14-4203-9cdf-382ae08cac44 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:bff85b4f-b326-4306-98ee-2ad95b560d13 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:9511599b-341c-487b-8a6c-15dfc0735a79 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:230198a5-8da4-4b42-aa93-5ef2fc389d3d phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:2edcfac5-68ce-4966-8eed-2b0ed7ba9a8f phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:b2f33535-2251-4373-855e-96c95f19ebb9 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:a6ba1f7c-03bc-45ef-b978-842becc31285 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:6e18d12d-4d3a-478c-a4e3-66b627a4ceb3 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:12f97e5b-dbbc-47e4-aedc-b804e8de4d7b phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:05d86c47-f597-4705-b1b0-fa5ed213665a phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:391bf6a6-4444-4134-ab95-cb8eee48aab0 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:192686c0-589d-4ead-8003-120a728eba5d phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:39c3a59e-5c0f-4d70-a78d-2b60c70b25e7 phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:657e49ce-c2f9-4380-829f-7b260f2d031b phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:1d07eba7-25f7-4726-ad2f-3fa68966fe72 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d769a65b-aeae-4968-881a-e65d3b0652e8 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:bb9770b8-7da4-4ee5-bab5-bab11525d14f phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:394edd1b-aea1-4a72-9e4d-cb7e4ee6f1fb phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:be141448-1880-4dd2-aa80-14721f6907a0 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f0f46cf1-da61-4026-aabe-3376dbece9a3 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:abb7f2e0-c744-445a-bf6b-fbd21213a9f6 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:7e8bfb9c-2c88-4f33-9275-721dcb6b75f8 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:200b0355-a51f-47c6-92ad-332c53b38e63 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:87d8e6f1-4f11-47c3-98ac-d5ec0cb77a9f phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:8f794adc-6ff0-4fb1-952c-30060d8d982a phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:deb6e974-2095-4051-9f45-49e27a17bd79 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:87f680d8-835f-40c5-a258-b4269d828619 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:fc030d3f-c54c-40e0-9022-7a0178b91dc5 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:bc32b798-9df9-4fd8-b21b-95a19df212de phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:11a6b9e7-e4ae-489d-a440-7189ccdb361f phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:18916d33-fd8c-4716-855c-c49b3fd2826d phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:dec21b95-f63a-47d2-80f4-f320ae953cca phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ad1ea3ed-6f97-4053-8241-4b74b9d23157 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:cb1b9119-85a7-4a71-8b5c-cc1c7c28a38c phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:0dab7a40-1112-4eba-b3b6-aa1401cc4446 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:48be67ce-036e-4c01-bd5b-c9794007d2a7 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:acfe3121-bce8-45a9-83bc-cc07443d3fb0 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:7a35ce17-d8e2-42f5-bf9d-03129d9bd5c1 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:d647197c-42ca-458a-b897-a1bf05780dd1 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:5e48600f-a2f8-4fd0-a93f-06cd264df068 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:f04260a3-e63d-48a4-bc81-1bee69ce715a phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:fbe7fda3-8ac0-4547-a6e9-d55524d04fa1 phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:caebc0d0-4cb3-49e0-b25b-0e3dd8901348 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:11eebc62-9d29-4ceb-bd99-b9820f47368b phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e015a3f8-3625-4f94-98cf-81f4036b2b7a phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:0e9cd456-26b1-4890-ba77-81205b8376e2 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:83b3ce6a-7d97-44fb-b56d-b3665c20b864 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:30bfccf3-9654-4769-a94e-d3ac153ee418 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:053c6656-7779-47be-bfff-77eb9dc7e694 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:b54f8d22-0c97-4028-b38d-ff55ed09f6a2 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d201a449-11e0-457f-9276-770c96028e74 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:b7ef361c-4607-426a-99aa-cf4cc22a84bf phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d8da3e09-528e-4d52-8e97-485f1117f447 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:7436d083-e6e8-4d6b-bf3a-6ced61da7e57 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:3a74aa11-8420-468a-b674-4e559334eb94 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c7c2f891-4694-43a1-939b-9b5e1df52807 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ada6758f-48ff-4b9b-85e2-c49f9e45f12f phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:585c7b9c-fc8a-47a1-a9f4-0cac8bd704d6 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:08487a1b-2891-4e31-867b-a10709a093b3 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a390b40e-0d21-457d-b966-d62b3a141af1 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:4efa7493-a39e-4554-b987-99e208c41ad8 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:97222a29-6554-427d-87c0-445ab24c2537 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:b1537949-3646-4c95-81e3-1b1caa840a3d phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:51d93ca2-53ff-4457-8302-801fc4c50756 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:86d9cc6f-4d88-433c-baa7-ff3bb016f4a6 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:f1c3caa1-41ba-41e6-83fd-1d5cf265353c phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:1eb1d582-ca34-4b79-a5aa-0b8090ab327c phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:aae20853-97c5-465f-9e8d-96c1b9c5268b phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:806aa3fd-be90-4b17-bd92-d453c0beb2d9 phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:5b6551a9-2b13-476c-8665-37cf9e94c2ad phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:043492d8-35be-413a-9d1e-8eeb71648cdf phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:746b9914-45bc-4554-9c10-728693055754 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:bc940e92-8df5-4f88-a59e-8b961c24f649 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ae508d5f-6898-4942-8083-f19adacd936a phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:90ff73dc-2a2c-4bb0-9560-71e1edb89e25 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:85e7cc45-9032-46f0-8878-060311a8cfaa phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:9b967658-f027-4ccb-9aaa-c80047d9490b phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:bcfc1f8c-2db8-4513-8e17-c2e1eb409f47 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:55cbeefb-3a78-4224-bb56-89f0824b12ea phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a25e24b1-cd50-47f0-b7ad-579ad98872e9 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a0a66fa8-60e2-4120-8963-0588f721404f phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e6dec3a6-4ecf-4f47-8183-3339200ebbe8 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:1163b324-53d4-4265-b901-c822e838cd81 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:cce3849c-6e48-4738-af45-e3868bff2ae7 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:312e2791-da09-46f5-a777-ac99e097a4d4 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:70c4d6f3-13be-4b1b-bbe0-7d8524ad8915 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:4723d477-5f59-444d-9f34-5e4ea27d47d3 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f6bfdc51-4e28-43bf-8074-f1c443a166f9 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e4cb7f52-cac0-460e-8a8e-6a92498691f0 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:71e2f980-c3b3-4fb2-9a63-af45fa4a6e94 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:46612c86-b907-48c9-a313-20f259fb83da phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:b87d1b92-2d0a-4489-9513-376542c39ea7 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:45116ce3-113b-4561-9ca9-3ee9064fb48a phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:72105f78-d93e-4f45-95c9-a29dac135f06 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:98187ac0-149c-4c03-a09a-5d770cb07cca phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:f1ec564a-7eb0-4399-8f3c-043a62c1f0a3 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:83e270c2-26aa-4da6-ab63-3e68f135104d phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:02c8fdf1-5c76-4266-882a-27d78b7859ca phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:3290f8af-6ca8-43f7-a329-acbe7300b339 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:b14d665c-5e88-4a8d-b041-27256aa67563 phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:3279859f-54dc-40a2-9799-6201cd4c4fd2 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:2721945a-87e4-4030-b724-9b833aa42a9f phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a3fd2289-0e00-44e3-be2e-b41c7f375527 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e05add80-2e57-4820-8c21-10e2bc042ed7 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ba1a6eef-2ab4-4815-a4d2-bb5af14ff396 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:29009a5c-0bcb-4151-9da9-e58d566a2217 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a3868b22-e14d-4a32-b9b6-8f9192374c6c phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ef288e6d-caf4-4b41-a675-85de70b20cb1 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:6dc7df76-c1db-4201-9edd-e10e3b0c2f06 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:4371146c-742e-49e6-8d6d-f2c908c8131c phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:cba10367-f012-4708-a675-726269e2c900 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:c23148e6-bad6-427f-8450-abc346dfd8fc phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:fbe4679d-5130-4089-a4a7-99436cc59432 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ea8d463c-4690-4877-a52f-3f1414fe4ad5 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:dabcdf78-8adc-4695-9840-c4e2773b69ba phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:b723ee07-bd2f-416d-a43e-7305ebfa1071 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:82a00f82-43f9-4fd1-8072-1d0ac9702c3a phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:0aa11a79-ae75-41be-b340-2bc1ece473a2 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:28ebf630-5543-4400-aec8-323e375eca0b phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:e4d3c5cf-41bb-4fc0-8e23-4b3897cba10f phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:37ebab00-fe66-4a42-9811-d62b8cc0e843 phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:5f34e8af-e847-47b1-a0d6-dd5ff64a18eb phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:10234d2b-2244-4c05-8b1b-6f7a6b327fbe phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:c8865b1c-ef0b-4d5f-bd2f-46b49fe52a8b phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c9649329-a409-418f-80c6-dd5fa90bc860 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:de4b29e5-9768-48a7-8cd3-fbf2a04f364c phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:defbe958-ee5c-4cd0-8e3d-ff8df8fd2e3d phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:b212851a-9bdb-4604-bed8-3a230eceb647 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:3b413af0-0f51-4f5e-92d2-9a39bd678af2 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:69ed02f9-8327-4276-954f-17eaf3005320 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:630ba276-0d6f-4dfd-84d5-03592e8e5d2a phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:781d5c46-76d0-4c69-98e7-7d1965c729ea phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:577e83d0-2884-4498-b820-104aaba4bedf phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:315e5c9c-c363-46dd-965f-a21f804819c2 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a926f230-93d3-45dc-af15-32bf7c2593d1 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:5576c75a-0d2c-42b5-a815-4a751a8ebdf2 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d71bd0d5-fb1d-44cd-b771-7e90165841dd phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c7de41d4-e890-4063-a456-53209445eefd phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:7e33caef-cfd4-4dde-8bd5-3a208aaade98 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:31e06601-9d02-45c9-af25-4e08c5503866 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:b7b5f711-9143-400c-9e02-74ac8394810b phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:1f7fbdc1-1a88-4c0a-ac0a-fbc6c5b74045 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:a506239a-2c8b-4ecf-89bf-8e0e8959388b phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:2a4ba953-fb38-4ca0-bc17-a39622a0d55e phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:7ba0901b-2987-44b9-a481-c6a8ea27df2f phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:632017d7-057e-4b92-a24e-73496d439bae phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:401a9e6f-6b80-41c9-bd78-7a0d69e66c95 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:3262d202-480e-42c3-82ad-d06aa722a6c9 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:17b205bb-3d12-420f-bc7d-84af13599e0a phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:71adf596-fafc-49dc-a0bc-72249f82989c phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:67f5fc9f-8014-442b-be30-a0628605c739 phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:4b7750ef-25a4-411d-877b-9e03e44c253a phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:4870bf09-1bee-493b-a5c3-df6fe4ba9764 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:7006d5ac-77ad-45f5-bbb9-a5e21cc539ae phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ee09f618-8ff9-4a94-a21a-5096eeb480b3 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:506d3a57-9f3e-4579-afa7-8c09adcf0573 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:1e27fcaf-f95a-402b-8804-c09104fe34a0 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:1fa8dc26-8f2f-4513-a3d8-e048c7b9008c phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:6fa82d7c-e618-40f9-8d5d-1673206a614f phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c449e33b-8c64-4a49-a007-79c782d618e6 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f64d071f-d6f4-4749-a9d2-ad31b95b782d phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:95e4294a-1b3a-491d-a78f-89de6090a303 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d74628d6-cf5e-483e-a6dc-4c62fdd5c5e8 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:866490e1-0aad-4213-9955-8e442b321220 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:151a19d2-ede9-4986-9b37-d235838a8a67 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:37c93d33-edbd-4241-8b9f-b48597683f43 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:1c97d33d-28b7-4d6e-9e40-2ad425d11b12 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ca80555d-6d0e-436e-83b3-0b20b3b32d1d phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:9936ed7f-8bdf-46bf-bfd5-61ee44a840a6 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:effcd608-2fab-4c17-b82e-f03e52b9b918 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:970848e8-acbe-4dbf-974c-b6a2ef8683c4 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:a43b6d64-e9e5-4c85-9fde-5f047f2e6c2b phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:59c6bc69-b1d9-41ab-bcc1-9ded7c4fa9b8 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:7a4cdf6f-19f8-4174-a534-cc7e6774e0ef phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:2b5feb0d-7952-456e-9bf9-f2a613eb9094 phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:f5abc540-3f49-45d5-9d09-e9291b19e0db phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:44fb4660-4f00-42bd-a4fc-87298390a2d0 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:36f69c4d-8a8f-4971-8d7a-f942c76c418c phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a064c607-ed18-4bf3-8636-2cc9de4baede phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f9a6b8b4-abab-4f85-935c-a8298d6cb223 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e4a03350-0a7c-4254-88eb-1eb4f1d7d7e2 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:3c249992-6678-4440-bc5c-57e3e8497e2f phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a1455942-1ce1-407d-bd85-b09b42c6cf0b phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:408f3bec-acd0-480e-92cd-196986b65b2a phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:9f38b300-c5bb-4aa7-9b08-172e8a3d1d61 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:1be4f091-bc0a-41c6-a5b9-16c97cd42e40 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:39042128-2ed3-43b0-b2f2-37bd4ebd2e1f phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c6fec0e1-1f0c-4988-9681-6fc3bd93bc99 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:99c78239-ae3d-4868-9e0b-9876b7ed1078 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:33da9c62-7340-486b-8bc5-0399fb59eb6d phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:832571a7-f890-481c-b875-1fa2b31ae1a1 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:3613cc8b-8fc4-4b73-9b9b-61623e0bd50e phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d586e6c9-df51-4453-abbb-5a2034d1dccd phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:0ca95171-a2e2-4d11-ae76-8038fc2f844b phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:2f92ff15-c3a3-4755-ae49-c0c4f3ec26f5 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:0e57f7e4-5701-4eba-b3ab-39224e252663 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:8581ce57-d3e6-4c9b-a880-4e8c293a39b6 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ee5c79de-7794-4a88-be78-deae5c44d162 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:3c6f4020-c3e1-4b0c-ae12-444af4d2f2c6 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:dcd19a9e-a47f-4cfc-8826-d8ecd169e677 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ed5f0fd2-de53-4078-b85f-9e818f3b7de1 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:8230cbaf-09f3-4071-b575-7c568a800ec9 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:33a18ed8-d62e-4f31-9c6c-f3d1049d3db8 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:1aabcb05-25c1-4d6d-a416-0659a4743603 phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:ece108f2-629e-4d58-8382-ba6dd43d5ab1 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:01e04a41-e54a-42be-a632-2afa5d9279f1 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:98d37b5f-b331-450a-8fc9-ba4232a04152 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:96ab6a5f-2dc2-43b1-bb06-287e04184c4d phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f3aa4cfb-1cee-4688-867d-591b50dfbbd9 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:91168358-9f05-4b42-82c2-3f01fd860620 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:aeefa5b0-34d0-41ee-8b24-ccb7b1e39864 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:cd3ca482-fbdd-4948-bd07-5d726c6ac37f phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:283a22df-e0fb-4b86-99d7-8349ff6169ae phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:89af9a50-3d7e-4696-a622-1fbb50ea1fef phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:7c1fa340-67a4-4189-889f-4e67374ec5d4 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:52c4b6cd-b147-4d5c-b4b2-0f23e70486c3 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:38f2899b-68d4-49b9-96ae-a90654e539e3 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:54954186-8e49-4424-ac9b-f4b9cab47af4 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:cbd4821b-17dd-4623-89b2-d0eab4fa48fa phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:33733c2e-c521-4d46-9a53-718d11c95cc0 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:00a392bb-f653-4f9d-8419-0312db9558d3 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:5fe97fbb-12de-4d75-9ace-0804a1658ba6 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:34122001-ed91-42b3-aecf-14af2f3b8068 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:487254b5-4f74-45cc-8496-4c6665b9c51c phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:2c14dd54-0f41-43b3-9ab3-98f525808fab phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:7a41273b-663e-47c3-aada-d91409b82a2c phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:e7f12126-8cae-46f7-bcd8-1cedd2fb4526 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:cef0f5e5-31dc-40f6-9a5f-4c9541f310c4 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:37c6adb7-f716-4b8b-86e4-25ddb46893e5 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:4a0e8577-694e-42c7-a1e6-4e8293ad0080 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:0753f6a5-2bed-4419-83a3-bf384e32ebb4 phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:6da02771-5d9e-48a2-8843-5b42dcbdfd2b phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:9b9680a8-1858-4bb4-9bd8-c6e845c647cd phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:2aa9bada-d4dc-4234-bfb3-5a2df2c65e2e phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:70670525-1ef0-4993-bed9-cd0de9c61eb0 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:7cf6b8a5-e532-4028-a6c4-593125c0eb58 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:5d711a4a-a76a-4133-bcd9-a342444dbf6b phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:90fc66ce-64ed-4c85-a19c-37a793735bce phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e1aeed17-6046-46a3-bc46-f3a23eaf7479 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:3fb9ad25-852f-4381-9bff-a203b9401ead phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:e872fb6d-143b-44a2-b539-1b4f2d625fd7 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:2449b14a-fb01-4f1b-9254-f405ca5e4590 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:87b2d579-5672-4c88-8078-a0e647710f14 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:21476840-606e-434a-b28f-5fc348a9ad04 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:f5f36b47-b7f3-418e-83fc-d9eeae240e5b phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:0dc97490-9fb2-4c54-806d-3a2b569425a0 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:a98381f8-2c28-4e94-9c74-4849f86982d2 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:feb27d2d-eba0-4b87-85cc-4ce3bc417642 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:2c900f1b-2af1-46d5-9c00-f50daa29998d phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ec0cf7bd-05d6-4d88-8316-d975c313be84 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:47264c15-bb46-4a80-877a-ac571f3b8c0f phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:975cde61-2386-4aef-9200-5487653d1b61 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:58a76c02-95ba-4374-92f0-93268995cb80 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:d3b881d5-6151-4b09-a9bd-a82001979f07 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:7574c43d-328a-422f-aa4c-a7b8023332ce phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:6ddf8e88-dff6-4db2-ab08-40bc4ec14ff0 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:fabf70c8-3205-4680-9031-88b7266aef1a phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:95432c63-afd0-4769-97f4-f6de861925a3 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ed80c3e8-d375-450e-aab9-a0067b0a630b phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:85ad7ed3-9e64-4fe2-89df-bf056e7b0167 phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:208072fa-87f5-414e-8d09-656b2180206c phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:ad98a339-1cb9-4d53-8808-ed9bdedd2b16 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c745765b-8694-4219-820e-4d227e46a094 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:1592018c-16f8-4d3b-97a0-e8a85e59acac phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:fbb227ca-bb0c-4394-9d03-16ef642b0c90 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0002684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:4b307372-60da-488a-bd1b-c7a351854a8c phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0003026 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:bd7b6417-5a3e-4c20-bbd8-6f04dc530529 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:402f88f9-0da7-4a15-9c84-ba6203f1970c phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0004621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:80f439be-e5b4-41bb-b0b4-9b1a22e7e978 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0003720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:d4c2d5dc-375a-4418-9a43-4095332e6465 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:565397c4-e28e-46ad-89fb-d8f8013fc155 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0001376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:ce728aea-8eb2-45e7-b22f-a0e1abf00efb phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0004279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:39a84a7a-714e-4796-8122-b5836e76a9a4 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:c92a0146-0ef6-4791-8ea8-56b46b5b851f phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:1d7409e0-51f1-4a5a-9d84-9111c6a4ebe0 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0001072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22158539 uuid:6e1cec7a-bf98-4df1-ba3f-68d19f06bfa1 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:ca6d01eb-4b0a-40dd-9586-361c1f7aaa98 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:63927a66-4c91-48b1-9bc8-48f9bb37d007 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0010579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:5f552799-bcfd-4f76-8be1-42c631b2dc2f phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:e481e48b-b377-4ef0-9d0e-41ac0091b65d phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:70bf7c65-a485-4f34-9d12-317abf7b8ba1 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:a7841910-eb24-4873-b4a6-e95f8682e6b2 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:a5b481fa-7f7b-4b69-9bbd-cfa5c886bf7f phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:dda7b8f0-d35c-4405-964d-f5276c67611f phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:eefd1e4c-0983-4da9-867d-d32546bfa078 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:18d048dd-50e3-497a-b3de-1eeb7b546770 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0100867 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:545bae86-b0a7-484e-b274-229e6c6642a7 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:382b2e13-f8af-4ceb-ab86-d8d1d991e1a0 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22158539 uuid:dfc14c27-3dc6-4a49-b3f3-a77262c8fab8 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_disease OMIM:139210 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:9fa81a65-264c-4ff7-a00f-465a06ee4303 phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:has_gene HGNC:6770 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22158539 uuid:5b37458b-c38f-4e2d-b6bc-17c1939dce37 phenopacket.store:SMARCB1.PMID_39117932_individual_7 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:39117932 uuid:5b908e12-7145-4e59-a4ea-45773eeae7d1 phenopacket.store:SMARCB1.PMID_39117932_individual_7 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:39117932 uuid:9baf2ff2-6a43-4779-a899-41bec6e86a4d phenopacket.store:SMARCB1.PMID_39117932_individual_7 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:37db3245-08c3-4413-af0b-92ec38773c0b phenopacket.store:SMARCB1.PMID_34101994_II_2 biolink:has_phenotype HP:0001909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:34101994 uuid:da0c7bd4-a3cc-4d1e-a8fe-77997fe394a1 phenopacket.store:SMARCB1.PMID_34101994_II_2 biolink:has_phenotype HP:0002888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:34101994 uuid:c3705df1-78d3-4d78-bcef-99be71888a07 phenopacket.store:SMARCB1.PMID_34101994_II_2 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34101994 uuid:6455358a-aabd-4a51-9a4b-6573d91b5c93 phenopacket.store:SMARCB1.PMID_34101994_II_2 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P47Y infores:phenopacket-store PMID:34101994 uuid:d3300b37-6e89-4706-8a84-0c93a511ebb0 phenopacket.store:SMARCB1.PMID_34101994_II_2 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34101994 uuid:6e64bb96-1c4b-4791-afae-a3de611d22d5 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:c105067c-f578-430c-bf3f-773934233f32 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0009732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:39170644 uuid:5542f5a4-febb-47c8-8ee2-dd25f741bf64 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:30f6155a-ee2f-4f81-83a0-b0a4dfe60e19 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:06bf6720-c105-42e8-b44d-86fdf3a27dd2 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:c8d8c906-44bb-48b6-8dd2-cd5938d7d12b phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:7e09d9ca-221c-452f-82b1-1d8590c500a0 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:14699ac6-e282-4206-a420-c64fda02bf85 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:2cec1496-d6b1-4d7b-af24-dab552ad0dc3 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:1bc3654b-704d-4969-8cd2-01cb64cc552d phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:d02ba463-a735-482e-979f-7f368d142f58 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:5e3054fe-717e-4ea6-b5f3-c5923a37b19f phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:2e06677c-bf96-440c-af72-d6d758c8fc6e phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:70837b8f-6eda-42a6-b23e-5dbc6223d2d6 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_phenotype HP:0009593 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39170644 uuid:070e50dd-6989-4220-a104-bb958f4e2623 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39170644 uuid:f81815c2-6a9d-47ab-834f-659b8cec26d0 phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39170644 uuid:59953bab-d6b4-43bc-9423-a7d4e37e12ff phenopacket.store:SMARCB1.PMID_39117932_individual_5 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:39117932 uuid:fd6d8596-78b0-40a1-a256-a02ac23f9870 phenopacket.store:SMARCB1.PMID_39117932_individual_5 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:39117932 uuid:1e735981-3aa7-4077-9090-3db53b282619 phenopacket.store:SMARCB1.PMID_39117932_individual_5 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:1bd5c7f5-3174-40d4-b947-a01b0320ea99 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:32f7472e-1887-4e2f-929f-6ea242620154 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:abf4b3d2-869a-44ee-8ba1-8bd133679c90 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:69ee9b2e-d847-46e4-b536-f93c10005a95 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f981d9eb-8277-4b2a-bf6b-c47c89814f7b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:bfcd73df-e8a2-42f1-8650-bcb4b4598eaa phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0011917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:76bf8430-0360-4ead-8ca0-e3aa4227f4df phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:04e26eb5-dd21-4e65-8e5c-0b85073899ad phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:49c735e1-bc4d-43f0-adec-63165e798e77 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e9741c50-71c8-4a79-80a6-fd29a3ca7bdf phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c3281fd7-ae8f-41f5-b4b7-965754727c54 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b26ab4cd-2dc2-4c9a-a0a5-e163fbc0fd6d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4171caf3-8ff3-457b-bdaa-5b745701d354 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0edcfff3-3c3a-4e38-b03d-dfc528ae9371 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:df430b6e-8cf5-4a3f-91cb-a06c3996eb53 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:00ead9bf-ee92-407b-916b-ef7752f400fe phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:bf47dbe4-51ae-4d79-af8f-015149e4ecb1 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:65de8fcb-d432-43ec-a28f-f03232264430 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d6c55317-684f-49fd-8ff4-34539c622d2b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:cb34623a-66f1-4f56-8de6-7dade0678535 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:139f4d71-8366-4990-a191-aa89a007df09 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b130a5d8-62bb-4bad-a307-4d9018ac5c55 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:dbe7e311-16f7-4a29-8d40-263c66f2346d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4b8fd22a-5ddd-4bbb-afab-5e47559f5030 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:9346473a-f6dc-4a68-9942-42c11b341d9f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b6f8cc3c-4af6-472a-84a9-98e249151003 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f16925bd-7ddd-43a6-aff3-206a339c9db5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f65709da-f72d-476a-b769-5966846e7a63 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:01e251ea-6128-414c-87d8-681510284cad phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:364e4dd9-de93-46aa-baf6-ae944ea7de76 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b1dc6135-5d17-48de-a481-c4574ba3d73d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:89774101-0b55-4dc5-9c87-5354e2f3be52 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d890e0b4-9367-41f8-8d1c-8d19b598b02c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d1e6329a-9762-405d-8a21-fee9adc7b8b0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:07eff632-4a1e-434f-afc9-7468cbe4e8ca phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7b2290e1-b60d-4cfc-b4d2-6c29fc9b424d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:6859a4e3-a013-4945-881d-00171ca2e560 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:627ad433-bb0b-4a39-8ccc-8d6cef87c25a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:76ba78ba-9b11-4cb2-a7de-473cdd9258d2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5b4ff402-0207-40b9-8a20-82a687673f0a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:51f06486-59b5-4103-9ba9-46f44e438e2e phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:76a5dcdf-750d-4436-a7b7-981cc85a6716 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:dd265d9f-0c51-4559-ad5a-b09ee742b72a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:be9498e5-4239-4201-a70d-2c51300dff92 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:99490308-74c0-4fef-9b91-49c0aac7250c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5be9e29d-fda0-484e-9a4e-ea014799528d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d743b34f-a923-4e04-9c30-c0d81dd4da45 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1733390d-b738-460a-8c78-3972d66d2568 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:dea96ba5-652e-4d60-95fa-861f7658e8b8 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2fddf0f1-4748-4434-ae10-47dec8b1090a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:febe8d38-a277-4d61-b863-aba868e2c273 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:d511a86b-1ad3-425c-806d-01536a2f41dd phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:2edce168-cb3e-44f2-86a2-cb8bc0390c96 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e144f859-0329-42b6-859a-c6caf08acceb phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c4740566-2f1f-4f85-9945-64c76a60fb90 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ac1613e3-e466-4e3c-936f-6c2e38900f5c phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c54aea84-dab1-4cf8-899b-2418fbaa351d phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:38eb881b-19a7-4053-8105-c3641bf33925 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3461be73-ce91-4f26-a0e5-7a1fd7c1fd05 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3917a5bd-f876-4433-897c-cfe532c69e3b phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f891c31a-070d-4b4d-87a0-8ff1170c6bbe phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c43f2081-3656-4b04-a943-4382051fa364 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8488cba0-7449-4649-862e-b10d58753ce1 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:dd5b2237-bc6f-4b00-b3a6-87e818690c1b phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:9a86dd24-6834-4e15-a51a-5c5d9bd25d9b phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1d127fe6-d465-4f97-a28f-ca80d6c33f6a phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:cdb24bc2-f46c-48fc-a373-2924e3ab1266 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:340932d1-e2c9-49db-b71d-400f0c6d9ca4 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:39ac94b5-f156-4e44-a914-77b02895e094 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5f720687-d857-48c2-8e7e-07fa3eea259f phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:57fd820a-af61-4b73-8fc1-c74d0cb12c1a phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:335b3f23-74d1-45c6-9bc9-30353e1a999e phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a8c0f117-2689-4e1b-bae6-cdfde09b659e phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d02fb43c-0756-4284-bc68-f027365ff24b phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:82c6159a-a7e5-41b4-abfd-5f3a6136ae12 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b1e01cf2-e160-4551-956f-eae61f2f119e phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1df97008-e2ed-4f11-9399-359d2057d87e phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b6a4ef5e-401e-4961-9bc6-d52bcaa8af3a phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2ebacc2e-84de-4d28-bfa2-74d516d324a3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f1b7e7c4-ec69-4e40-a057-3c1fe5f1baa3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d1b610aa-c486-4480-939d-42d510bcf792 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3697c59e-0622-4846-800f-a6eb5b9236b6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1189a6c3-66bb-41c5-ac40-6550c9877105 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9f82b2de-c59c-40dd-a6e2-fee5c1a9d33a phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c6e4a237-87cf-4913-9267-5f4a3531b720 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7ec45330-eb93-4580-a648-addc921d61cf phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9dec758c-927d-4c25-9b03-56585208919b phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9ffcf5de-d817-4ef6-9bd7-43d6c435ff87 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:55d25746-d871-41fa-ad32-d48e04040206 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:941a865a-7f35-4a7d-8803-85d0348c05b8 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:789a72f3-db4f-4eeb-aead-fbd6285c9741 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:6f2e0e55-ea84-4f4b-8991-3806cf24aead phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2f656116-030d-4be6-9573-fc876f6b2e90 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:89af0120-93d5-4856-ab6b-6cc374fe14c2 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:56c3ff72-2399-47b5-8d81-0df787795ba0 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f6903f4c-60d9-460b-ae64-1d6a5af1aa20 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2c324876-f51a-40d1-b7c0-1b2eebbf8c79 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:44281290-e315-4853-a035-0988efe38d15 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:59547824-cbb2-4c35-a5a1-8d694c15a4a5 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:510318fd-b09f-4bbc-a775-2b6d874b7b34 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:cb31e4f7-1a55-4579-aefc-33f556db61c8 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d04fb224-5978-4d2a-9c62-b28f117894f9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9dcb3edf-f516-4fb0-8370-ac820e945482 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:af9025b2-b528-414a-8f2e-c8bf376ebb61 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d74b40a1-8ba2-416b-8517-8744fec7f06e phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b5deab30-f26d-43d9-b756-1db43d3f2f33 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e66d3c69-0d4e-4f37-9101-c1ea62e335a6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:7306ac85-f7b3-405b-92aa-5af7cb2dfea2 phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:0a670cb3-2bec-4d08-b05b-73c4f77dce9c phenopacket.store:SMARCB1.PMID_39117932_individual_2 biolink:has_phenotype HP:0030063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y10M infores:phenopacket-store PMID:39117932 uuid:e90b7b8d-5310-41a5-94af-6e9479d41bfb phenopacket.store:SMARCB1.PMID_39117932_individual_2 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P1Y10M infores:phenopacket-store PMID:39117932 uuid:dc5cf578-8a7c-471a-8e5d-48f68b18a489 phenopacket.store:SMARCB1.PMID_39117932_individual_2 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:20fcb8f9-6096-44ce-9705-7a20edb74509 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:30288465-36a3-45c6-ad42-c677e2ea69bb phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:23cd2644-a1ac-48d9-819f-7a867c553563 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4597f403-2e1e-40a5-891a-cd26621d235c phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b42de1ac-75bf-406c-bd86-bc83c008729d phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:44a852a0-dc8e-4411-99d9-8f809b991180 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f6a6ff72-7e12-418b-8bd5-4882a31b34f1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f9bff588-e5e9-482f-92c2-467df4fb0f89 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0548564f-403b-4b11-96ab-a1f5d83d316e phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c667aebb-114e-4ba9-a9aa-dfd908c84f13 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8f3727be-3b75-4dfb-9beb-a7d27f7c7889 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:9ab4cbe3-4c3f-400e-9050-26c2089d0876 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ff2344c3-c38b-430d-828d-dbb8b7131e42 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a504729a-9c27-4ac7-ac03-0f45a80fe2b2 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:449aa3f9-1b5c-4d18-82a9-df9224bcc4ec phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c923be4b-e027-4732-ada8-bae261bfb01b phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2647ca7a-4baf-407a-802e-d4429c55c6f1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3031e622-3fe7-4e7c-8044-f1309620757b phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:7c21c0d8-06b3-47dd-bdfe-a64a7967fbc9 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f37b884a-c929-4bb9-990c-d760a74ef9bf phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c70b2f00-7c50-46a2-81e7-8b2e5318a18f phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f9d11862-b51a-46a1-992d-ced2531a470a phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c701d7b9-3214-41e7-b111-a947b3bb9f89 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:48b51ccd-c188-4379-9a09-be8622942202 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8b8d876c-7463-4600-a025-4326ae651ff4 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:791be39a-bacf-42d6-bdb7-60fa6cd5d5e9 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a106465c-aae5-4601-b9e8-ef26bf682899 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:401a3849-2b08-4cca-a845-ea1d243af492 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:54b06af3-3c27-4610-845a-24e017031f7b phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:40560ef7-2559-4034-93c5-8f1c03bed2df phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:29faada3-9125-4b27-a334-1a383835d45a phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:32773a5c-da99-448d-b180-897ba63ace95 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1602b3d4-8c33-4697-a595-286e2b53b5b1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c25158d3-ff2e-4434-94f8-333629755b8c phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:478052cb-9378-4168-9e3c-7ed58f1c7b13 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c34adadf-316b-4728-9628-f46bfe7c665d phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bd07bc05-a926-4847-91eb-e9007f9af529 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:52d578e4-bc54-478b-a2d7-91250820bb06 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9fe389ee-d7ac-4680-b2ff-c400b8e6f82b phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:aa30958a-5560-4400-aa23-2f7b96ad78cd phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:0ec98f78-83f8-4f9e-ab6f-3fa71d25893f phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2475ac35-82b0-4df8-b0ce-451d2d158542 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f1209580-9912-4ece-a6a8-5d69f4c56f8a phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ac901443-3706-46e5-ab88-1b77350d118a phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5d784182-7918-4348-ae52-f75a110f3e61 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:66bbd08a-2276-4d07-a617-0a882fc0eac2 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c831f1d0-49bd-4f6c-a929-18f7ffe412fc phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:8e70d0f9-00f0-4a50-9e33-2ae719eccb92 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b4c25cdc-e393-43b5-a699-b13167a05f36 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:edec4cc4-e585-4144-a70c-f9aa008b4bc3 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f9b8e82a-7d65-4eb9-9dc4-2f100d42911e phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f1e4012e-f833-4a42-8287-6b539df39b44 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:f84280a9-2e04-4d2c-9530-0d9df9482974 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:25618497-8c56-4638-8672-e3ccc2824d0f phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:16e5bab8-0e94-41b2-96fb-a831d9a60c69 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:e6c099b1-42fa-49bf-a4a6-2cc723244761 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:e02dec1e-23ff-4487-b792-598550c0bbea phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0004227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:0c1e21d2-e131-4eee-900b-114744b15895 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:91b910ca-995a-4840-ac41-20f728837c5a phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:58595f94-6911-4385-a54e-be50c874092f phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:7de29a27-0f43-4a75-beff-2b961afedac7 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:7ec0167f-0ee9-4b23-bd00-4a1ac1c18807 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:5f1939c1-094d-4ebc-9822-22b8ddf21f2a phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:42475721-da86-47e6-ab1c-ac434b53daf3 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:7e237dc5-6562-4448-9959-e541f348f965 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:97ac80f3-bd46-4c7d-b208-8058528d52f6 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:7b90af38-a7e0-4203-932c-8273989e3f3f phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:e7f234d6-bd83-43dd-9f2d-6ebca33baf22 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:a9bb40c4-c567-45b3-ae9c-f97b4e0ee75f phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:52699eea-f4df-416b-b5d0-4a36bf934106 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:68c2a069-c8ed-4f4f-8bf1-a6fd66837010 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:b350f79c-e0ee-4de7-997a-e0c9fe1d042e phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:9a9f2f05-9293-41da-bd9c-47fd8476edf5 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:b558b5ba-2ce7-460f-9eba-0b794fdf381c phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:33b81a22-e58d-4b41-a83e-2f5f3578f162 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:f7f2af7c-cf35-4314-b5fc-b7111a649474 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:5a5ae7f2-99f1-44e0-ac7a-4f83ef5c4a8b phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:41d8a16d-3c51-4e5e-be0e-648fc0ca8081 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:68905e2a-2927-46ad-a2b1-8cca4cc4bdb6 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:08601423-e209-4a50-a9a4-3dea5d4498ff phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:412ad843-ee10-4623-8b4e-b67938354404 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:aff97ca0-74f0-433d-b155-a0f8841ff3c7 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23906836 uuid:9f9e90be-80ab-4a4d-902a-166b124209f0 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:326d4221-381f-4b16-9247-09f03035f72c phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:43aae78b-0031-4a3c-a818-2c7bbc01ac20 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:9c2d1772-50d4-4253-80d0-de76517e6ef6 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:cb732329-f0bc-4a16-befb-da51a3c87a0c phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:20b5b6f5-3c11-402a-9aca-ca63a7eddb44 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:2751cff1-8794-48b4-bee4-09d8d4779ae7 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:145bcdb9-d54c-4955-a043-63b76b955963 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:d216fc60-2279-4f18-9d55-940b859499f1 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:210e3780-da76-4199-b9e0-1c05fbce4326 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:acf4ef25-808a-40a1-ba14-aee6e9e217da phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:942f4792-29c3-404b-8f18-bbbd91b3c1ff phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:45cbf8a4-ad7c-43d4-881f-27f95f001093 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:938af795-e4eb-4a97-880d-9b3c85e4923e phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:baf5038c-8ac7-48b1-8305-b0c9cffbe3dc phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:31553609-d6f6-4335-add6-df2811c64100 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:9d3ade89-f4b6-4cfb-b0af-4fd891ef0594 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:3216ae82-9739-4600-ba02-6de743c8d982 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:189dbbf7-42a9-483c-8ecb-b3b8019e0e77 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23906836 uuid:9e2f9913-2e7f-4f52-b774-3519657b7e69 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:23906836 uuid:eae6fec3-9f8e-4baa-9989-61d919f536a9 phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23906836 uuid:bfab6ced-4ee5-4526-b99e-6b17b875f9ea phenopacket.store:SMARCB1.PMID_39117932_individual_11 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y7M infores:phenopacket-store PMID:39117932 uuid:9b3571b2-76e1-4dd3-9796-021430cb52b9 phenopacket.store:SMARCB1.PMID_39117932_individual_11 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P1Y7M infores:phenopacket-store PMID:39117932 uuid:a0c56795-2b6b-4296-aade-a23d3b2ea974 phenopacket.store:SMARCB1.PMID_39117932_individual_11 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:8ea89bd6-3c11-4bf3-bb84-abac89f44afa phenopacket.store:SMARCB1.PMID_39117932_individual_10 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:39117932 uuid:f35a40e1-96c3-4f72-adf5-206257282c20 phenopacket.store:SMARCB1.PMID_39117932_individual_10 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:39117932 uuid:dae63d29-6bd6-4ef8-8dd0-4c73f1d63dc4 phenopacket.store:SMARCB1.PMID_39117932_individual_10 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:32bde2b3-6a73-4e42-97af-2b760f2ec706 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:89925e35-b01f-4c7f-8f99-b284356de684 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:18fb67b8-050e-45ed-b8a1-8b39f3555973 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6a60ee72-7689-4600-804c-40b993e5fd9e phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c53b3dc0-5a05-460f-a3ea-4f7dc2f301ad phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ca6c116c-7e82-4a79-ab0b-4d91b433f6c1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6c76f746-1d89-4689-bf19-1c730bdf79e2 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0fd30835-f110-4f65-b3df-c6d6940a5ba3 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:db44b32a-5ee6-4165-9a11-8083e8e8a3ae phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:02b6c815-a47c-4db1-ad87-7c39517a6675 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:16ae916a-6c55-4c71-94ee-d3f2925d2c6e phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0c0232ee-efb4-4e9c-a8d5-bc2c37b424b9 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1bf3c1c7-7219-4049-af79-f8f557aee910 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:58b85cce-06bc-4c02-a119-1ebe8afa6396 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e9b16fd4-65c7-444f-8b2c-1fbe356e92ed phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3cad43d4-19db-4e02-8fd3-28fc4471a6ee phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:859a5322-e1c3-4d99-be9b-a8141588597c phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:664d0f0f-5b0c-42a1-858d-947e011ce3c3 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c8a7ccc9-3c75-4d98-bc4d-9653be5dfba5 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bed11dc5-dbcf-4850-bb50-1455e9316381 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d7575908-672a-4395-af43-4e39881a3cf8 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7b545332-62c0-4522-bb15-0964e62309f2 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1ff3b834-d07b-4266-82fe-312eb170c54a phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3fb8cd89-65fe-494c-befe-5e94b728c997 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b0b65cbe-37e6-4de5-bde7-3f84809e0ae6 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bbd9396a-d620-47b9-92c9-3cafc407e588 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:0da9adda-9f4f-4424-b72b-5d1e70646514 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c005a6cf-ca5c-428f-9e2d-294bb67840c1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:587e6b04-6710-4140-848b-6102c6a256c1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1abe95f6-17d3-4f16-a144-9873124b5812 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f5a83613-69ee-4595-9f12-ed877f3a660b phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b53ff029-5e08-427d-b0f2-0a3279c1dc15 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f9f26fc2-fa83-4cf2-a768-d662166a5253 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ff36e160-b35c-4921-bc5d-b6565172bcc6 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a0657591-aa8d-4c50-ba0d-1603cdbdf338 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e4d3c338-9578-4c06-a569-fc8a5ddc60f1 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5178cb12-bd2d-4474-9a63-e6ceb4e29b0b phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f97cb6bc-e2df-47ec-b947-1539f7dfd775 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ac255a73-c14f-4bc6-ba8d-d0e6164e6de4 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2ea2caab-96ac-497f-9aba-eec3f0cce81e phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9170c650-7a5b-4779-93fe-a33adaf5a1c7 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a17bb084-98a0-4818-a792-f8b5d8a66273 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:34a1f614-a8bb-49bc-ae2b-63f75e9ab4ac phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3d703e5c-1140-40e4-8a38-acf766d2bff9 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:975c9acc-a6f0-439e-bf10-d9f1bd35c321 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bee0848b-af40-4bda-ab12-0f1d89cd4249 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3f563cf4-a8bd-43cc-831f-1df8c5966acd phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1eb8ab5d-cd06-4669-850f-42e863300c6e phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:b5e000b8-327f-4102-b22d-a999a44980bc phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:1b61bf2c-2e96-4967-95d8-9f6ac07f840d phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:39fe953d-7c1e-43fa-9dd4-c3009389e2b4 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:100cd947-9998-419c-907c-6fc63dc7761f phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f8771abc-bae8-4506-b7ec-163ad92596ae phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0034375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5dbeb648-f573-4632-a31b-bc382c663728 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a6ddf3f2-bb69-4d01-b0db-bcb56bb8611c phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:35dc173a-f026-4de0-98cd-c6517acd9d65 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2428d101-3238-46e1-9647-d39870df51c1 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6f05a419-d039-4591-8b59-aff1e4f28018 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:34cb9094-ed11-47ad-8c21-09a62e38e838 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5cc640af-4ec7-46cc-bcf6-e46814c53507 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2410ebf5-faf1-44a6-9374-2d268ded186a phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8dfc3075-1f7d-4f8c-9aeb-4dcf85b55a35 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2d55769b-a6f8-4ec2-862c-3db973774226 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8410352b-951c-4736-860b-3e912d9cb562 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c69e7a4c-5dbb-40ff-ba53-05434a208e4b phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f7f2e6aa-8120-4ced-a828-c10914137a4d phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:03fced75-58f2-4695-bbed-370e9e1d5c4d phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ec65503b-bacf-4ccd-9b16-9a70108bb02c phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:7c3aff6f-9523-4672-986c-740f61914e1c phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:62ca2259-26a0-4ec3-83e3-f7411a664fde phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0f5901fd-eefb-4e84-b63d-ad3652132a8b phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:baa6ba06-c75f-44c5-bfee-a8460fc1c0a9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a7cfa2a3-a78e-4b50-986e-98c62f5cca50 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:4cd18092-b6bd-433c-9f68-69a336aa1dc0 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a67286a1-75b9-41d5-9bab-22dae662a78a phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:17e95b32-7e41-4daf-adc7-8d52435db8f5 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d7374e14-5e9c-4376-83a3-9691dbcc64df phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:732afb5e-814c-42c6-9f56-80875d622264 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bf82c333-5ea4-4ae1-88aa-b23e4083adb6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b0b0db51-21fd-48d6-bbee-504ad5361710 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:59562e24-fb15-49ca-8eeb-e9e413a3c362 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ce18c141-0ca4-4498-a1bd-2e92429b5555 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:0ee01fb9-5b3f-42bc-9172-6e3255205a57 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d0e8d7dc-e9b8-4ad4-8513-4403e08747a8 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:4c9262cf-8732-42c6-b058-2cd9ab9dffe3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b13c289f-772e-4985-8a80-bdf2670e302e phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:151fbbf9-d86c-4c50-b22a-94051b33469b phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:94a728b9-6426-4aa8-8cd9-1c7133970e3a phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:139214c9-8d52-43de-9a81-abaadc2eae5c phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7e0890b5-9a9d-47be-a1bf-a130b71e3621 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c6c5ebba-1c82-40a7-abab-a08ecbd4ca05 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:97f62837-3fbb-4524-a518-1d14f7373fcf phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5fcae3b2-dac4-41f7-88a8-d0b7918bd73f phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:fb6cc442-0167-4cfd-b19b-a884e261e58c phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:00ae2f0a-e676-47c3-86cb-8c6bd5227f50 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:53ad8c8e-4408-4a58-bfe2-1c45d9107b40 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:be2ddbf8-4b04-41ee-b234-41daf5970fb6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9b2f2e1f-0100-4d39-8215-b58a521c7249 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:34a9d266-9f1c-4f61-959d-f474571bdd1b phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9a3f1361-2b11-463f-88f3-51245e2b444a phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:785d5512-c947-48d3-8182-a51cb7757676 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:adf74382-3b45-423d-906b-87d383ac3843 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:8a23d462-c01f-4997-96aa-766fe7f8f7b6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:60620ddc-1a8c-4369-95af-95a7ad1505a3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:9bccd967-ccec-47a7-8e22-805219dc3903 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:93c14eba-34d0-4c50-8778-d7484ceda369 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:8727e37e-9697-4830-96bc-e768af0312af phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:98a1605b-d7c5-4897-a1e7-dc2cccb63173 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:8749967b-205b-46ae-903f-be9a3986cb60 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:0bc4cb50-1e6a-4422-8c28-09e4b3a44494 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:b461455d-ae3e-4ebf-b006-c5c399e05947 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:4b5290b3-19fc-4ea2-9b9d-21d40090c5a7 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:6032cf8c-743e-448d-a3b5-e786e5d7aec4 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:7e747b62-64f9-49a4-a5f0-7c7825d97c5f phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:e91dcc22-43c7-42a7-a6da-9b0115fd03d5 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:78c1d615-28ab-4a3e-9a5d-60fbc9f0f0f6 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0012422 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:8f8b97a4-e5be-4d87-88d0-6135ab1afb19 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:cbd2aac4-a004-4df6-b200-29a540b71bc4 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:9b4d59ab-4c88-453e-a520-8cab20ae18a3 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:89ca1717-58a7-4d55-951c-8595eb6a5411 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:0b8c277f-ab3c-4609-95d8-2cbdcf793322 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:10335c6f-30dc-423c-8aed-d4cce724f633 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:69c284c2-03be-4c9d-84ed-83cd3c1e264e phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:6d5bd120-e6c4-42ba-a18a-3b09b8721ad4 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:f073259b-faae-4d52-a4fa-7c125c611032 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:3d3fc07f-c06a-4b31-8e13-29a6477b44ae phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:1dad5a9d-fd81-4663-9d94-d0b5b314d804 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:f2c606bb-0c0b-4681-994c-c3ab5bddae4f phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:a7b3d1b4-f349-43ea-ad3e-35b8138ac3c5 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:35354677-65a3-4a98-842a-07f605058261 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:b10e9bb8-11f4-47a2-9ab0-b8edab0ab225 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:0105c5e3-62ea-4e60-912d-ed9b936c35b0 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:9660f442-ca14-462b-a4a3-3b806b1d9a16 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:ae3d5527-9aec-4a5d-a1ba-7af6f86a5009 phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:0279c78d-7f81-4d01-8de6-ead7ab778cd8 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:8020c500-12bf-46a6-817f-9fa5ff97683c phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:c441334e-0809-4d68-954e-9203dd8d0123 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:4051a155-1911-4678-b1db-388a48541192 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:46c2f450-10a1-4dac-a748-b05ab66f2327 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:2955bd45-7b3c-4e45-8151-03cb47a59662 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:f1d7d93b-0287-4729-80a4-934cf14f25ea phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:185e64e3-0a65-4cee-9131-7918115da78d phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:6bd3e3b5-8a5f-4456-a5d6-8a88fa4ffb74 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:5be4dc5f-7afa-4fc1-9da0-d2b51c8fb3ce phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:802d3da8-3412-4821-a1d2-f93a0256f9ff phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:7cd559d9-9e7d-4cfe-b547-a9cc3169fa57 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:66c04fd8-32fd-4b3c-9ebc-f1e64d4290fe phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:ca7535b8-cdb7-47ab-afdf-7004f9f0742c phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:b25e6ea6-569e-48a8-9718-88525b1acc43 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:1e20bf22-640b-4c0a-aed5-feb6397a4f02 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:511c7060-ce5b-4aa7-bc7d-6e01415998ab phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:cefefac9-9ec6-45f9-9ea4-4a78c0ac032c phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0012422 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:926f1875-e086-4cb3-8ca2-ab3cb376fdac phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:d3adb0c6-b462-433a-acf8-d20a0caf2a33 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:b086578e-964d-4d6b-ad02-d6bf365e2091 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:d54eaaed-1e83-41b5-9205-c4a081b37b66 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:4c315648-c714-4ba7-bcd6-add637df816c phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:076e3a17-5540-4e82-8b26-6e8ac4bdb296 phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:190a47c6-5f81-414a-b76a-e7ca491b9a9f phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:dcd37898-0020-4db8-aa4a-919fcda6ed79 phenopacket.store:SMARCB1.PMID_39117932_individual_9 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:39117932 uuid:0dc48f7a-1f9b-4efa-a4ac-605149c30d08 phenopacket.store:SMARCB1.PMID_39117932_individual_9 biolink:has_phenotype HP:0034402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:39117932 uuid:46275917-a587-4e15-aa00-07c9ad736fad phenopacket.store:SMARCB1.PMID_39117932_individual_9 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:39117932 uuid:de141bff-92cd-4ae2-9cf8-9cffd5750557 phenopacket.store:SMARCB1.PMID_39117932_individual_9 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:2c04d8db-22d8-4f2b-8dc6-439cd6767dac phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:036779f8-38d7-473d-a7ec-8f40ce8002d1 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:84138230-e41d-45b6-9a9a-9f1142ceda57 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:928a16be-775d-4384-931e-c3ac6d9db85a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0011917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2558586e-fc3d-494c-875d-032072dfc887 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:afb2a5b7-9ca9-4b6a-8573-935b42acab01 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b6f91895-1062-4284-998b-0af54069fae9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d5db217e-c2de-4045-9b4c-c71a58edcb2b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:115c3e11-401f-4ae9-a4af-8c4e5cc59b11 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8af9cf6a-c1e3-412d-be46-51755708365c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:046d2f5f-4dfb-4b8a-bf2f-aab3141d35f0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:64360159-2c0c-49bb-a3ff-3b4a875bb686 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8cd61141-ed2d-4657-a802-69e7874462c0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:bf5a322a-ccdd-43f0-b6b2-429ede07768e phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5c1b7903-23ad-4d45-8000-29432985ecfa phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:151c5da2-8402-49bd-b2bd-3eb99ccfdcbc phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ebe53b17-7f49-4709-bd71-0d0474d8356b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:df053ad1-3a5c-4adf-9795-d273cf0df28d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5f81a279-0200-477e-8f18-241c7dfa1db9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c7e27b6d-d5d3-4747-b1ee-34b0b843b2c8 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a5fc78ae-f20f-45ee-a4c4-77b472ab2977 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:62cb5ecb-a455-4a2e-b3ff-6ae42028f25f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:025f21de-2be6-4f1f-ac1f-96a6d1743ef7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3f1a0b29-64c7-4668-ada4-dcebd53e964c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0e6be195-0aed-4c36-86c9-fb4ddf5de6aa phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4b897b28-e6f3-421c-8623-b15edcfac66d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:20ff4b57-4ff1-4589-9e9a-39f4264c4cf7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e3c7d18e-ee01-4a54-9531-153a5319d4f7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c0c4b02c-8451-4a01-aef7-db8e9793a5df phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e451a404-e0d5-4ba4-9acf-223750401ced phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3e2f667c-6c8f-4835-ad22-94e46ab64e22 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e5425168-c6c0-4f2b-b785-cfd8e530cbe5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:716cae8f-4f1f-4926-8a33-928ab2edd995 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9e03c398-910f-43f1-ac45-d959ea76222a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a80e24e7-36e2-47d5-a009-4152a59c9f4b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c99f676c-cba0-45c8-92e4-1bd6e8a9aad6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b6ddf13e-eb6e-46ca-8771-d84331242448 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:15844793-0701-4576-b7ee-a5ac0ecbc7b9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:989c6a85-6af4-4b55-ba43-c9f125e48214 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:075a52f8-f167-426f-b451-105014133b75 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1f6cc1c7-6e4c-4887-b346-fb1695e576c2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a67dab66-5118-47b2-b692-497a64c05cc8 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:59896903-5301-410d-b7d4-7438d2ad0513 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:607a244b-1b00-42ce-ad5a-3bd9c2050ed2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5aaffc6e-43e9-41aa-84a1-805ce040cc5f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5b599b90-6219-428f-87c0-fa1583c0dbd6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a5ff398f-d05c-4a7e-b3a5-f2b9c2095e85 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:16ec0d2f-2cc2-4b1e-a092-95200b27c274 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e8396818-09d5-467a-be9f-4ac57b3e5617 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:d9d292f4-7441-4f4e-b202-18cf90753425 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:3a4ae517-65f0-467a-975c-ffeff9122e4b phenopacket.store:SMARCB1.PMID_39117932_individual_1 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:39117932 uuid:ddd0e38c-5e33-49f1-86ad-af2a252f1bd6 phenopacket.store:SMARCB1.PMID_39117932_individual_1 biolink:has_phenotype HP:0034557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:39117932 uuid:93e29563-3a05-4b13-a799-6abe3defa30a phenopacket.store:SMARCB1.PMID_39117932_individual_1 biolink:has_phenotype HP:0100008 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:39117932 uuid:7312552d-d396-4b50-88d8-5961278ce8c0 phenopacket.store:SMARCB1.PMID_39117932_individual_1 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:39117932 uuid:a181ff0e-3703-4cb7-badb-e3ce4448fd42 phenopacket.store:SMARCB1.PMID_39117932_individual_1 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:9ac6fb91-8f9c-43b9-a57e-62178f03cfac phenopacket.store:SMARCB1.PMID_39117932_individual_8 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:39117932 uuid:ef970e71-5db4-40d3-9c45-70ccb9215baf phenopacket.store:SMARCB1.PMID_39117932_individual_8 biolink:has_phenotype HP:0034557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:39117932 uuid:f76657da-b80d-4033-89c2-2f3ddc71dfdc phenopacket.store:SMARCB1.PMID_39117932_individual_8 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:39117932 uuid:bdaeeff9-0c2e-4700-a69e-cb9c8f29a690 phenopacket.store:SMARCB1.PMID_39117932_individual_8 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:b0b7fe75-202d-416e-aaf5-ba80af1b336a phenopacket.store:SMARCB1.PMID_39117932_individual_4 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:39117932 uuid:e6e61a68-542d-4fc9-9326-3b61f8bfba36 phenopacket.store:SMARCB1.PMID_39117932_individual_4 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:39117932 uuid:c8eb4d5f-3d27-4569-9599-30c7dd59daee phenopacket.store:SMARCB1.PMID_39117932_individual_4 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:2588e983-11ee-43ed-9a61-eedf75aae798 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:350f73d9-428a-4bc2-a3ff-a3de0a2dd6dd phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:24ed504a-76fe-49ae-b2ee-ca4dfe0a1bdb phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b8660559-88af-411a-9dda-ece254ae4b44 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f3af1b98-a3d7-417d-ad16-774203809a01 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:35dfab6c-25c9-4633-9352-0ca5ffaa21b3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2b2df095-83df-4e4c-8bfb-f904ed431839 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ca0ec87b-37d7-4a19-948a-112981dd4804 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5c781161-5ab1-4f5b-99f6-17ff7d476b3f phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6f434c82-4bd9-49a4-910d-d6a841b709f5 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a73ce4d6-e1ef-4654-93a1-dd91b4e026c6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6412884b-8970-42c6-b9a6-5eb4c8f1d4df phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:db870b6e-1a4d-44ae-875e-789b6494eb1a phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0e737db3-03cd-4971-94db-d58e8c0d8c61 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:03f9fbde-ed0b-42d1-8562-dc730eea54f7 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1748a78a-db88-4926-8f31-8e4fd141af4c phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d60a32fd-1bf5-405a-aa58-18060d480478 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:eaadfc2f-4a92-4255-97a3-1842ecef1564 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3d78a090-51d5-481f-ad59-bf1b2286346a phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:fb728b80-d06e-4072-af57-dcd838be7edf phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4179e1da-35f1-4360-b533-09f54cf231e2 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:cf60419e-fe50-4180-b23b-fe64a09721da phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f6332dbd-5b44-4eb0-b7aa-b69f4e451747 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a544c129-6bbe-479b-8d08-b09c13855658 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3fd4868c-2667-468d-8806-d9893c3ad658 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2826ca2a-6dd7-4db5-9ad2-38d8895266b2 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ce583826-a23f-400a-b528-12ea96a380f2 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d2581486-1242-44c8-9c06-fb5165ee08e9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f3bcbab9-9fe9-4045-b80f-1fa2a73ac221 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:456e3452-a945-4332-bbcb-643dedb9d31e phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:899b42bc-a542-44a3-99b0-8eaaa4e000fe phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:741a2e11-6199-4fea-8367-463cd83634d3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:aca3bc0d-20cc-487c-b6a2-95045cc7b0c9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0034375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:8c5b96ce-311f-42bb-a339-e1a866819150 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:eeb5f571-5bfd-4855-97c2-dff0a176b56c phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c9fa4dc7-1ece-4c14-8462-d2aea39cbedd phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:abbd2e11-86ca-49d8-aad3-e9479143bd04 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d0c91702-459f-468a-bbb5-ed3ba11b84a0 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:27b6d479-6630-4db7-ba39-4c163a1c662c phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:87ad462b-6280-4e33-b2ac-42254a713369 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5d550bab-7b98-4bb5-92f4-eda5c04af84c phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b0684ca0-bfe6-4b5c-9d77-97efb2e548f9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:efe0c0cb-b84a-4692-b98f-20cba61c5d21 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bba1d1b1-5736-4e89-8881-a6aa5c0e90df phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a5ab7134-40c0-457d-810e-7043ede485ae phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:492f8fd8-cdd8-408c-98cd-2e02dd18f282 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:cb8c5efd-58f3-482c-94cf-97de34acd7f3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:be1ac755-53a9-4581-9922-3a9786011f23 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ccda0c01-63c3-4217-bfc2-2ad301e5a497 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e8462f84-3f6c-4fe1-87e2-038f43457cc9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a01f8518-08c2-4c45-af5e-8a18c9242270 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:fe492c93-8117-491c-b9b4-77835acb5191 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c02bb388-bbed-4dc3-b875-d95b65016841 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:8db82b4e-315b-44e9-aabc-3150d7de27a9 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b17c82f2-f2e4-4c1d-ad2b-370cd3a3bc47 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:0fe2cb56-cd6c-4ccd-a9cf-65e508dfd663 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3be3eed2-55be-4e80-b62a-ac2134d417a3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:213ccc7c-c281-4d59-9bf9-9488c6a06d9b phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:063182a0-f530-475c-9577-ed6257413ce4 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:ab730706-bd76-4c94-8bcc-612b8ec4637b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:87ef8bde-a4c9-451b-97d6-5bab4e8a4ce4 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:7aa111c8-cae0-4645-a780-98f34ee13a11 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e8c46e64-654b-4f59-9157-d23c8c4582b7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:14b92542-2f43-46e9-9fbf-e3b4c6f306fa phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0011917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f97673b9-6bc6-4e48-a0c9-4f8dc73a0161 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:afa77956-1330-48f7-bac7-30f5386b8004 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c6b60f70-ded6-4166-ad9b-9d9c106bb6fb phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5a33398c-bf71-46c9-8067-6f79c0c2ed17 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4b99e6b8-4a1b-47af-86cb-a0b5430a4d35 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:83866c49-01f2-4a48-82ed-db3b5fb98ef3 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:984b7805-7cc6-4cc4-b77e-25036b5fc054 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a6d31b7d-8077-4f48-bfe3-36c2fa4d0255 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2bd39283-ab10-4e64-991f-0a52d628e5ed phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:391582b8-09b3-4480-9a0a-af4d9dbcb6ee phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:cda9d512-e2ab-4b16-9810-df11b3df7dd3 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:29b23849-323d-4a04-968d-f87fca25b6a0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a3666052-63ad-4529-905e-3da9fdea2bea phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5ce5b1e9-ece0-44b9-a2cb-7acea2d2cdec phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:03e4f921-11bd-4043-9d1d-70748a9bebc6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e8184d82-edbb-4b95-bb5d-14916627f1c0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:7f574442-0a2b-47fd-954d-913631b88587 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3e319456-8325-4354-b2ed-713460630b3a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:de122392-e89e-4fb2-80fe-20e138c9aa08 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1319eb85-5f3b-45bb-b363-2c3027c076fb phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:0f558693-b676-443b-95a1-e23d8223f044 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:acce51ae-cdad-496a-b1da-5b91d148f9dc phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:52228d3f-b123-42f5-a3d0-d2e15fd3db46 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b54e8571-33a0-474a-8cd5-b93800203689 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b1cfd7b8-f56f-4e00-b41d-9ea41ae8bf2f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ba93f99e-9e61-4781-9669-6f05b7ea5e29 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:732455f2-6abf-4acf-9f48-6a22eb2b6a21 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d1622892-a892-4194-a600-492ac550218a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b35e8a69-5ff1-4c63-a9a9-25a83936129a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b781c0c3-3314-4328-89a3-2e432a219187 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e5ba9c20-a72a-4d22-869b-12f9941c329a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:396e0eb0-f041-4db4-abf9-2573f8a78a3f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:41a567db-c89d-464c-9e5c-69d39ee67b19 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3f00122c-5262-4e2d-ba25-ce24b9597b47 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:66795f1b-c19d-433e-9a53-8e6a68271df0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:099a3200-b525-44fa-91b7-73f299c5750e phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5cbbef89-3a11-4266-9e3f-6fed3a7543fd phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d4462008-01b9-4268-9758-0eee56e08ea1 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3c1ebeee-d061-4964-8a9e-9b16f9d27cf8 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:8ea454bc-a01f-4ce3-896b-82578066bb69 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:675f04dc-6db4-4187-be36-e22f754a686e phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:4f1283f3-17ef-41cd-a914-f80aa85a8907 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:83f9f0cd-f0cf-4036-88e2-d469957a644d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:4f6590e4-57fc-4dde-8c93-76e1e56ecb30 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:8381c71d-466c-4e79-9a45-f1aff89b0257 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:83430fe4-f29a-40c3-92f0-3579f8d649e7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:26508bba-bdb7-49e0-af09-7a5ab90f66f4 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a8b339d8-2c33-4767-b5cb-9b33564854ba phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:93ed0b90-4c20-4c35-a5c4-bff7eab9987c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5e71e20d-74d6-4bff-8236-a3212d7a17b0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:142d1e0d-a044-410c-b667-175cabf9f4f6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:24ef97bd-13f6-4f50-88ec-98f546daea4d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:59df9e5c-330d-4025-99be-c72389b319c0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:38be96d3-c992-4ab8-9c69-d4457558afed phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:9112abdd-ddde-4c34-a021-a16cc1d3c871 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:43fccf6a-ce25-4e39-a63b-30c11755fe87 phenopacket.store:SMARCB1.PMID_34101994_III_1 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:34101994 uuid:68b6dd9d-a4f9-484a-8568-38ec1ed41292 phenopacket.store:SMARCB1.PMID_34101994_III_1 biolink:has_phenotype HP:0001909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34101994 uuid:f9f066a4-5175-47af-aa6f-1a27ef04d5e1 phenopacket.store:SMARCB1.PMID_34101994_III_1 biolink:has_phenotype HP:0002888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34101994 uuid:957aae5f-51c1-4fcd-954a-499d70b50757 phenopacket.store:SMARCB1.PMID_34101994_III_1 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:34101994 uuid:29ec40b8-08a7-4cfc-b76e-b575fe7cc793 phenopacket.store:SMARCB1.PMID_34101994_III_1 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34101994 uuid:1a715b51-2594-403a-a3cd-6cc2b6118731 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29907796 uuid:f40729a9-9ce9-4769-8ea1-bea274521fba phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:e6465644-9ed2-428e-bae9-22a1364bd4e4 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:d0e15596-e752-4d14-9fdb-c1c89a749e79 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:08f3b1f5-292b-4184-8383-28c50329f3ec phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:c727ffdc-c4e3-43fd-927a-5ea6b497cbe2 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:ce7006d0-00fb-42b5-a2f4-7b36d6889fc2 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:b2330a4f-225c-4359-a470-e565449afb24 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:4951e25f-eb52-44ae-ac59-2b9b93873d0e phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:294a7ec3-aed3-4bad-8166-faaeed755ad1 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:aab50115-dd51-4185-a2cb-9c298145d62b phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:ddfeef38-dd1f-4869-9868-b70a17634acd phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:e1a162c4-4fe6-4291-a061-981d34ed5219 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:881725fc-9809-4b30-aeaf-ff042b8a9121 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:18da4c41-6ba6-4326-9b0b-7f51bf88e3b8 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0012422 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:26dde07f-2117-4946-b48e-4cbce6193889 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:7a6008e2-bb77-488b-b187-c4d2cd1dbd3c phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:33af07bc-0811-4d24-98d5-10c60b08014c phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:2c0017f4-5d91-48cf-b29b-f954741274cc phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:1af21ac0-7a7e-4b64-8000-0db8580af453 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:c5cafdb8-9b58-4af2-93ba-0e6eaba38dcc phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:031d5be8-2404-46cf-b464-d12c1e7298c2 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:5aa4ba9e-cf77-410e-81e6-65fd79e205a5 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:5366a1c5-963b-4e4f-a2d5-1186d9e24781 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:d215ebcd-d3f6-4890-a9c7-1f4fc3198926 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:40f56c4b-4809-4e92-88b1-90a7f493f37d phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:27538b94-0e11-45e1-b7ae-057be8189316 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:8753813c-37c9-4db0-b958-40ef39100efc phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:96266b3a-117b-4c3c-8e5c-b22bd587c695 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:9d43c622-2b72-4f6f-9035-295d7d02ab10 phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:323eff58-1f0f-42fe-b869-1b4c816f96c2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:11d9ac2f-4aa0-42bd-95d5-79ffd648bd67 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:faa43eaa-77ab-45ba-bba4-08a81e936b4b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0011917 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:bda30189-3844-45c8-94b5-a231e426c6f2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e8f0baa1-2998-489f-bd75-16701418e2db phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a921b6b1-4878-4515-b94d-8781306cbaac phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ec90b822-ed41-416d-9620-475bf57d47fd phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:30709fb0-9288-4ce1-bfb4-22a2c442d1fe phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8f2afc94-ce97-41db-8b97-2618bf05d5f4 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8ee17d58-567b-4cf0-96d1-fa84f4ea3e5a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d167cf5b-60e9-444d-9d4b-cb26158b2941 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f2ec8589-cab5-4d0e-9df4-3cf5dbb3ca66 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1e16d44f-d21a-4f62-8201-b264b32ae39b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:63ae1511-6fee-4c23-b780-fa3eeacef803 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:8d7b376a-dff1-4931-af14-fbde460a64de phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ce1cb043-a044-45ec-9586-ccbf55673965 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:f382c26a-68f3-4a72-baea-a5894c042290 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a5d727b2-80f4-4475-86cc-82d83ebb00c2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d337fb6e-0966-4e52-909d-a8523027f943 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0b1550eb-6b4a-4164-8aeb-342c0a4b5fd3 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1164ff68-6853-45be-9a7f-0ebd3761a8df phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:46dc6325-df3f-400c-abee-794e4d87430f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:72e42646-d134-4ca3-a5c5-28f8f1dd92de phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c7dcb34a-552f-436a-a1e1-2f7606d13fcf phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:73a2ed0a-935d-406f-ad96-95594b1fa8d0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:df708dbd-607b-42a6-a939-8e0b8e615026 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:00db8b84-70a2-4a14-b5b2-c36a8f4b3303 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:57d6359b-79c3-41bb-8cad-66159eb73124 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f73c2f03-37f5-4c8e-9218-986fddf05f09 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:595a8014-aa76-40db-826f-92278eafc839 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d6c07165-a8b4-4e99-982e-7a7f711684e2 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a251b34c-b6ab-41e7-b47f-df4e27129c2b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:865b14cf-1cb0-4d42-810c-c172f36d988a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e9f09484-9a6b-4c84-adbf-59f05dffc03d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1a912185-19eb-44b1-8b2e-ab91a9ea6285 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1865a03c-b2e2-4d4c-943d-756a043598dc phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:fd97c5e3-aaf9-44f3-8060-63169c754145 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:73582095-879c-4178-9bed-02826b55ecd1 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d7e8c141-4d59-42f7-b9cf-959a79389c72 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:98cf226b-0b46-4819-9d86-7d95b99b1fce phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7a84f848-767d-407f-8503-f5bd836b17eb phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:43d8b211-13e6-4d8f-a045-29b873375737 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ba180d73-3c7b-4b53-88d8-9ba028f7b009 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b05667bd-4224-4252-b695-6d0fcc2029dc phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f53a91a0-0bb6-4aa4-a940-45c71ee10bc5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bf35825b-e04a-4743-bd07-cc589c045918 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2ad4ffd6-a2fe-48bc-9796-6e24eca1ac74 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:4aefcec1-9723-4088-8179-857e1ad17b26 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d6825958-aa76-472f-a74c-bfbc0abd19d3 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7094d0a4-a8c8-4e54-b55c-5b2023f5c9fc phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:83f6429b-8227-4159-9b0b-32762571d789 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:798eebc3-f9d9-4e35-8b5f-50a45c906ed6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:3b43716d-ef80-4ffb-a26e-871d0a558d71 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:464272f8-2032-4814-b07b-5434203d8ab5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a2aec395-55d5-4121-b886-88e9bef2f89d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:0ab62821-1266-4cb3-8165-c1b379e263ec phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:7174a11d-3bc8-44a3-adaf-f4a3c223ab1f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:56b5ac90-d0ea-49df-9dc3-111b715082a0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:c6e1101b-464b-400e-af69-90d01cbc0577 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:31f44add-9794-4d2a-bc53-061f4a810b4c phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:dfac2d26-c05f-4785-8fb7-353e9f54f182 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4b938c60-2d0b-4d1b-ad0a-512b45647224 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:72d074dd-d6bc-4196-89d4-020f7ef4a244 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6b6dd315-5dfc-4617-b93b-311265d2d8de phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:671f0190-cb93-44d9-a06f-e50600455a6e phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:752a9bdd-0c07-47ba-b1dd-17d460aabfe8 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2f511b7d-6796-48c5-992b-2acfad391d98 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:9d101639-771b-49cf-a5cb-70854550e5b7 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:ea9c63ab-119a-48ba-975f-0bd71d6991ab phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d6b4e34c-f907-41d3-8e70-929568ac425c phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:62fc8ce9-c970-47f9-b620-2c8667beb2d7 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:230350e7-0e7c-48d8-be57-52f1431c7518 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:526da9a8-c946-4939-b6bc-12816fe734c6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:351a02f5-2096-4aab-a262-a7b763f7d125 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:45ff6b14-7b87-4b7e-91d2-afbcee029e3f phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a8e86db2-e65f-49a0-8695-95bb0ea38141 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4233379f-5706-4ea3-a6f3-d1dd03f692af phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:58e904a8-d194-4cbc-8a90-26e0d354be5f phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b14481c7-923d-4fac-aa54-43b345728ac8 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:72ef4f95-cf0f-4bdd-90fa-67c1479aed6a phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:30e6195c-a51d-4cbc-b17a-7c422d8c9e59 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:53335d7f-e65f-4aaa-8f02-86c86d4b02e1 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:fe8fc19d-1158-4eab-be80-c07e95c7c283 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e4b217b4-9206-4493-ba99-d4257378d1cf phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0034375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:21ba04d4-e727-4073-a19c-f6f146fc7b12 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:6d558f20-374d-4c7c-a45d-a0cad6329e99 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:c09da463-6ae3-4903-a6a9-9993a0c56671 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:36e0e6c9-fbb1-48b3-abe1-24ef464fb8af phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5e804655-8c38-4405-b49a-01f6bef9226b phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b12d87ce-adea-43c9-ae57-c8da6de9cf58 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:003d943f-c79a-4aa8-97cb-28eabbb051eb phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f52faec4-c74f-43be-a57f-46be2bcb7187 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9f2e3972-ae40-41cc-b0b6-02cd3542d4a6 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:82c8924c-a5f8-4a93-95d6-936347e57b1d phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:afd98642-ef40-4a24-86c5-6ad396e74aff phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bf9e8e49-960c-4b3f-b648-689f8c4ed1df phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:a2b9592e-0dc6-4408-86f0-48a07082908c phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:2b253ae5-2cbb-4290-bdc3-2add80fdddc7 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:bac8741e-228f-4a58-96f5-bb4ba55e087b phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:16ce5441-cbfb-49e9-9d8c-26d5e44c2e8f phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d3770e7c-4641-42b1-8910-7d1519fe0f8e phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:cfcbaca1-6bff-450d-ab56-ea0b07ab2782 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:48c56367-b3d1-4adf-bb32-b423472a69ce phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:02b883d7-2ce4-4205-97b7-fd6d65ce5c10 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:675872fa-a009-4d4e-b4d6-b69a2ee9ef45 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:aad34da3-f0d5-4a14-a1df-ea96e0b6d52f phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:292f3e78-d707-44d1-a93e-55af159e876d phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:94f5816b-8265-46d6-bc66-da2e64951704 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e36fba9f-b154-489d-a0d2-4cb162a66de3 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:cfe8534b-180b-4231-9075-4378f14e3ac7 phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:9deba3f2-2466-4eb2-ab5c-5295c425d653 phenopacket.store:SMARCB1.PMID_39117932_individual_6 biolink:has_phenotype HP:0034402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:39117932 uuid:d1d77f54-6d73-47de-875a-c9bcdffcd4d0 phenopacket.store:SMARCB1.PMID_39117932_individual_6 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:39117932 uuid:33154a50-cda3-4532-9fd4-50df07572081 phenopacket.store:SMARCB1.PMID_39117932_individual_6 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:ae1b8018-3bdb-4c5e-937e-515fed0d7668 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:61879937-7d38-44be-83d7-afeda211aecc phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:0eb6b7b2-64de-41f2-91d8-30a9f783e168 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:00f72eca-f7c0-4484-a75d-0f23e6695396 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:7cb17371-db59-426f-b08e-794d82c90f5d phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:b815a29a-0b84-4269-982c-cf4d4a245e2c phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:e0013ce9-7488-4b5e-a6a4-a390418146b1 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:6e13c03a-0d69-4b4a-900e-a3e832ea7517 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:f26f7d02-23ab-42f8-bdfb-122bd7240a06 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:fae8a7a0-8a2d-4c31-9174-54d35d920a2c phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:5b8334f8-0ae3-42ae-a46f-ce82a4b380b2 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:d4c45d5e-4f4f-4430-ad5b-581af9239e52 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0012422 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29907796 uuid:e37ea132-055a-4d0a-8578-d425b9c9c27e phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:869f397a-ba92-451e-aab1-1748ac3324c2 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:cc72b999-5529-4644-9015-791342286a16 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:21b8a52f-ede4-4051-b33a-89d2e8a5de37 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:481c5c6b-7a81-40a4-b797-ae20cb9895b8 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:d46a02ba-e865-4a56-9399-5043cf3b5876 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:93d0adc0-f79b-4b0d-a04c-30612f18327f phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:3ce7db44-5dd7-480f-99fc-b45b9e532c85 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:73a1b0c6-75a4-425b-9d69-c5f3b14fd223 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:f63ce381-1e7f-4de9-934c-49defe667ab9 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:22d5061a-ca63-4006-adc3-181d29d1f821 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:9cadaef3-9f53-488f-9e61-77825398d080 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0410170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:849b6f52-1570-482d-887c-2e10de76b30a phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:63b75dff-83c0-456e-bf97-679e594a5d29 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:d38954a4-031a-4590-bd66-7eb4fc08b421 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:c21d3a09-b126-46f2-8c20-1c4ea1c5c327 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:b4604e9c-e950-4563-aaef-41caa68e322e phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29907796 uuid:b6d5b071-892f-4097-aa59-2348a7cd22c1 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:79ee9213-7ea7-4513-b66f-8800e47412c9 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29907796 uuid:54ee6b8e-b582-4cae-aa4f-502d5cc94912 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1bef776a-4b39-4fe1-829c-2ba20f7a5ccf phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:b3953dcd-21a9-45d0-9a3c-7d179ceebeb9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:db5a9110-f2c0-45c5-a426-9b422bf11c90 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0336ac00-769d-40bf-8ec6-f789fdda895a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:1198eeba-02d0-49e7-a248-f79e5704dd20 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:2a78e647-2948-4cb0-b2d0-73a690ed96c9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4aaceef2-de70-44bf-ace5-e807bf8ec509 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:dfa2aecf-5ff6-4c17-910b-5ed41a754e17 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:84b965c2-83b0-40fd-9561-18e002c7477d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:985233a9-99f6-4890-b820-60726e4c9f85 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:e5a48f99-f6cb-4f91-a3bc-3e67bc1e139b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5f0c8269-05fa-442c-b411-d261848c53d5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:c268e6ef-9de0-4c3a-a347-401544ded38d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:a819bda6-1d46-4aaf-a47e-eaea74133097 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:0fd5f2ca-fdb8-4020-8c6e-4589ee3e81a4 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:5c9f0aca-53f8-42aa-9bbd-d9a023595136 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:90051bc8-a57c-42b0-8cd5-55061818054e phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:76414e6b-92a8-420f-bbb8-98943ac239ef phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:4e1f7f86-6220-44e0-811f-bb5786ffcae9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0008722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:3c7d1a93-918a-45a7-88e2-92d932615ce0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:be0b115e-a11a-4517-9ddb-6e6a5459c251 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:6dca9c27-54ea-44f9-8936-1702fe2435a6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:d58a3e56-f667-4658-90e1-e52da408daad phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:dc1ba275-0f0e-4d57-9f6a-e42cb6cbf2da phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:78841ac8-bc13-4393-90d4-72715708c707 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:999647cc-af5b-4fa0-82c0-16db5ae8c401 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25168959 uuid:941b3225-ed96-4609-84ca-7ca2276994dd phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:5a97982a-62b4-4720-9ab0-60df440df3e5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ea374be3-9d29-476a-8286-1fa1f6b3af74 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f075e909-9a06-428b-8ff3-8027f7764360 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:b460306d-a76e-42ec-959e-8fb12a7707e8 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:90420a99-505c-4e95-82ed-7788670a206c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:36b4a97a-f9fe-42a0-b0d8-5dc69880913c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:db6cbb78-d6cf-40ca-8913-52e427bd8ea3 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f4450af3-3526-439c-a2ce-6583a1283291 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d4e58efd-751a-478b-88f5-122a3154a558 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:56f3a8ea-dc47-4cc5-ad5e-17375068d1ab phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:08f4e948-26c4-4943-b770-b0a186da7cd6 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:348ca536-b78e-488e-9eba-fe715414dea7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:be514df8-d50c-4d87-bdd6-d84778849ee9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d51ed075-f6ee-4d44-a9c9-209da3f3f43a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:e0a2053a-ae60-4a4a-a1e7-26e1047eb256 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:76fb9a1e-19c7-48a0-aa21-35745735a436 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:d1ee3f73-e83a-4759-a847-7901078df800 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:87eef882-9818-4a16-a12a-e95f687ab675 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:65a9d51c-e181-4337-8401-404eb5e0c04d phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9b121a4b-4b7e-47e8-8436-0fe4bcd6850e phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:f7213a7b-0277-4f46-8aa3-8c179e7c3e6c phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:54d1f4fe-928f-4fdd-9525-751c15d1799b phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:9862b50e-0c2e-4134-b77b-6d545f079de7 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:ec983f9d-3d9c-4bb1-8365-3c36ca12be7f phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:1efc25ef-1be8-4fa0-aed6-e69b1584275a phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0025161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:375f52c5-dea7-4ce7-a0ec-da9928b2c756 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:43723021-3e7b-4baa-aa4f-d099e55b40aa phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:4bcf5b1e-ecc0-426b-9325-ea3d957cf6b0 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25168959 uuid:6510c810-d575-4d3a-9102-53711fc851cd phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:3b399456-a6f8-4a08-a066-10553b58ab62 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25168959 uuid:57d199d3-c112-45bb-ae53-9fbbf1af1a08 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:38b26680-bea1-4d56-a4b4-9503b90af134 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:55a4601f-98e8-4fff-a437-9b92f22c200f phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:c05f2629-889c-4b88-8da7-159710f407d6 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:67e9d2bc-9366-4590-bfca-7e7c7feb9ab9 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:e1206106-3716-4142-bfbc-6b79a723351a phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:6b365a80-1a5c-44a4-be0a-a897c285af62 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:c601af90-ad1a-4940-bf0f-fb529420d7cc phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:f7a8a4ba-c39d-487d-9a73-421d17068878 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0012422 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22726846 uuid:f41bde4a-5b3c-4d37-8927-98a1864533ff phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:f27fafa9-39cc-4548-a33c-e1e9048460ac phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:947e8a26-dba4-44aa-8c3e-e19383714a1d phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:227280cf-fc01-4725-939b-1962871704d4 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:03d8772e-5364-4b1a-a71d-5dd1e944bcdc phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:8f672d6e-5a0e-4c4d-8219-759aa01591c5 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:8801eed2-9079-46d4-8d32-99c91a0d7382 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:3e7f9143-aee3-40b3-9e90-d1255b0b5d63 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:73f1cd71-4b5c-4b5f-b005-f073ec7040b3 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:32b9e863-8c59-442f-a975-c9bcb394847e phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:f6da2e90-0059-4982-a626-93a2727fec94 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:c926344a-7ca1-407e-8f20-97f0478ff9bc phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:b2bc598b-fafd-4770-b674-fd82b1032465 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:39409882-63e4-4188-8618-317d26439a5c phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:ace822d7-ab20-464b-97e2-14dcaada7908 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:618c7b44-b5e6-4020-a61f-f5ee83a80a8c phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:95248fdd-07ef-4eaa-aa73-a0636d47fc30 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:c416db5a-e7ca-43a9-a3b4-3b19cada972a phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:ba8e4e56-53e9-4afb-8b10-913d28c17b7a phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:7717017d-aeab-428a-a2a5-7086c0eaa1b1 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:342c1569-80ee-4458-a5fe-a7a34a472d69 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:1e044622-f8df-4028-abf3-8b88fabd7c6a phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:0e0a12cf-e720-4b80-8295-c743b519edd6 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:0d081242-5133-4f06-b5e8-38bfe0dd8ae3 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:274b4ec3-6aa8-441f-bd5f-d09ea2045655 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:cbc4bfe6-6382-44ee-9c1b-15f7fa39cc19 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:1f4b819d-12a1-4903-8209-8c7a9aab8937 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:bbe61dca-c973-49cc-b454-7971bfd8c6e8 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:086cae27-a339-42fa-825e-7bd86b046a69 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22726846 uuid:4e1947d8-654a-43a1-854e-4bdadc518f66 phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_disease OMIM:614608 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22726846 uuid:fc1a88f5-0500-4d7e-807a-91d088c992aa phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22726846 uuid:fcbceb96-3169-4a03-85ba-3fc9d588b04e phenopacket.store:SMARCB1.PMID_39117932_individual_12 biolink:has_phenotype HP:0034557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:39117932 uuid:49704ab3-6a0b-4c9b-b9b8-a1c05d654feb phenopacket.store:SMARCB1.PMID_39117932_individual_12 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:39117932 uuid:b036bfe3-79e7-4d66-9d93-954107a1df4b phenopacket.store:SMARCB1.PMID_39117932_individual_12 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:c36bf61c-5160-45d5-afd8-f4833c2359db phenopacket.store:SMARCB1.PMID_39117932_individual_3 biolink:has_phenotype HP:0034401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:39117932 uuid:f9f890e8-64a3-412d-b5d2-eb5fb2f9dd27 phenopacket.store:SMARCB1.PMID_39117932_individual_3 biolink:has_phenotype HP:0034557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:39117932 uuid:40b7b996-39dd-4650-9209-93eed3f293d1 phenopacket.store:SMARCB1.PMID_39117932_individual_3 biolink:has_phenotype HP:0100008 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:39117932 uuid:819b0192-00ca-41eb-921a-95d8e60c05eb phenopacket.store:SMARCB1.PMID_39117932_individual_3 biolink:has_disease OMIM:609322 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:39117932 uuid:89e49d4f-f97b-4d15-bd5a-ef4b7d79c08f phenopacket.store:SMARCB1.PMID_39117932_individual_3 biolink:has_gene HGNC:11103 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39117932 uuid:00205d26-a032-4576-86ef-08b0aee8ebdb phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:45cf5fbb-cabc-4fec-a11e-118c60243716 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4b95c81b-ee03-4692-ae9b-21810b996bfb phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8a0af350-887c-4440-9051-e58c90b9a9cc phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:90273850-253e-43b7-87e7-bd2f853e15dd phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:977d3d4c-9fed-40c2-98bd-fea22a239775 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a24f5249-e64e-450b-9783-b297f714321c phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e390d9c5-4a35-4a1c-a6bd-c0babcb3323e phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0740b4d4-5cea-4863-87a9-ebc9622609bc phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7c007cba-dce9-4f8a-b455-1a8cad08900a phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b013ccad-367a-48a9-b708-414f9d058458 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a03a8c6-ce2e-468e-88fc-94e096e66c44 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:132f2e7a-d3b3-466c-a4aa-4921fe93752a phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fef36ad3-22dc-4898-8edd-bb4f078d1108 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49e2251b-4fee-428d-ae2b-81a481845594 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0c35d7b4-501c-4292-b1df-e161de23aa05 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a32d778-e59b-4c4f-95ae-2dd3adcdb7eb phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea1c6746-9700-4a62-ae2e-30b8f232e714 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:408b1425-42b2-4762-b9a1-e59ba3101a87 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c4b5f191-1994-423e-aef8-a38a57b9b216 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5d94117-5063-4819-8679-68afd8dedd42 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a7ac467-50f9-4fe9-98bb-a9f796d047b2 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e702642e-ed32-4cc3-8dbd-dd048bc9702a phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f042e27f-970b-4137-988f-4a2ef58890b4 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:985cbecc-1fcf-46b4-9138-e7314065983a phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c4ff3d7-0301-4ef9-ad07-321e14123e42 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e23f67f0-91e3-4413-aca4-5742e2918b5b phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4317e81-2df6-4d1b-bcd8-74aa666207ee phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:075fe8e6-5975-4b13-b75a-24471d0c9115 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:462371c7-3b5f-4c7a-b7d6-e0b7ebeb3ec7 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b675e636-4aef-4943-8b70-8c50231b7563 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:af600083-a6d3-412a-b690-b6a86d569437 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:16310bc6-2a9a-4ceb-bf40-ee096f038632 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:051b7fe3-bc49-46ad-8469-b82d26176e07 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95503621-6899-45e3-9f77-7255aa13079e phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:842768b2-e69b-4437-8b20-8b84a483b472 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a7841a61-b799-4202-a4c2-c83145439068 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4aa7145c-cd12-40c7-bcb5-93a0121a2062 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7b2a9305-4ff9-4e5f-867e-8aa7744c474e phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8373425-57ec-4cd3-b34a-ed3a7caee8d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ec1da14-0071-4df4-b664-73bd2083a15f phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e42cd2f-5585-451c-b8fc-c065e94b00b1 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7e6afcc-3ae0-4a8b-8a41-8b66d3362cb9 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2f3c2ec-339e-4717-a776-01ca57477b51 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e225340-bc79-4fcd-ba13-d6d58d29487f phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0bd3418b-50ba-4591-af5b-3185b1a6be4a phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb1bc5d5-a3ec-4e51-929b-2a5a59c1feab phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f205f01b-e82a-4438-ae27-c68e296462c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2fdba7b8-28cb-4a88-bdc4-269fc5e62e4b phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db3bee77-8f1d-42c3-aaee-de8ec0d89078 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e047bfb5-6399-4000-b4e4-18d52cbca368 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c177b148-1d43-4ac3-b68f-b82347c9966d phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14731f6c-8cf3-456b-9c37-715f34d5e074 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18847651-b6c1-4d91-9bf6-bc40f1f2734b phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66bcabeb-3e17-46cf-9997-de86f4fe7de1 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:85591561-a255-42d0-b758-0ca200a60cbe phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1952467e-ee9c-4c09-9ff5-993b58ff0e3c phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:748ec593-4d60-4348-bce2-10f63d746acc phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5972767c-bb4a-4e67-8cee-64d6c23d8015 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d7e2dc4c-9377-4401-b485-85b930dd3bdd phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0da01b1a-6765-4787-9dd7-56e2dd13ce20 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:98eb3b6d-b38b-4a66-ad6e-0055e3599beb phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9994b821-17af-46ac-93a0-1c6ff7e7ed85 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e006bfc2-7019-4bee-8da6-c2858acd5ccc phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e1a5a0e0-e6e3-43f4-a8f0-d54c88107819 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32bcc8c8-96bb-4fa3-bdd1-eeb25e24e794 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:c4cc30e5-619b-4172-8924-eed5cd4f2262 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:98d5273e-51b4-495a-a7cc-b25efb9fc558 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a35b7e33-f224-410f-b8e9-aa58242f8b94 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:90de33f5-44bf-4887-b105-4e230c77f426 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8285af1d-4918-45b1-bf86-e56cdad93359 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a0b48ba3-ba60-410a-9d29-134732c69c20 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d4f0579-aa28-4b8e-b9bb-874946984d5d phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f492e816-08f5-44a3-b190-d42a51233841 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8cc71f6c-1cb7-49e1-87c4-66a4af956db1 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b38c39f0-6157-4846-9b53-7ab7607a3dd1 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3cbb9b32-ee38-4a17-a067-11f32ca0f655 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:301b1dae-f179-4431-9a73-414705357b2a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7117b73d-2716-4869-b74a-7e9f1489ffaf phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:09cda706-201a-43b4-a1b1-d123bcb69f41 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:baff56eb-933a-4f6f-9487-bac6160eca41 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30e2371c-4865-4447-b124-0bd0673e4b50 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0d207c8-19ed-42d4-9d36-ef5b9fc9310a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:86dcc7fb-11a2-476f-9b12-d879188d3e63 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1259f2ad-c34b-4aeb-9431-8b53ddf12e49 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0facce4e-e5a7-4127-a1c1-4621bf37ce65 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ff8be991-c44c-4a9b-97e0-72f78fb382c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f4d5dc7-59fc-4bc9-8cbd-05c07b1353f3 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ddee1c2a-ca23-49ba-9016-032d562475cb phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f8f55ac8-78d8-422a-8add-f05e6d475dfc phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8bcfafef-dab1-462a-bc3d-997973d5ad9e phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6d5e4458-3913-4174-9bb6-72c0fbe8693a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37f86f00-2d9f-4156-a2c3-b9b2fdfe5ad5 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef86ddd1-7123-4ba5-957a-e281fd0d3b0a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:91c48593-6412-48af-b86d-148071eeb245 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:03610949-a396-4987-b494-63914a4d5efa phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:631671ed-5f0d-40e2-878b-2b2b02eee228 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6deb0e04-c4d3-4c87-93e2-5d2a6095dd98 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:60d9426a-61ec-4a16-afa5-9ecfef59378c phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7575390-fb59-4660-a2f4-923f29a39ff6 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17c8b09a-ebb8-45e4-99f7-0c258eea4d8a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14cf84ef-b09d-47ea-9a97-68d40ea01fda phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:167c14a7-11ec-4efa-839e-5b5bb3b343bd phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:672914e6-de3b-4e8d-98f3-8093274a237d phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fad66243-31bb-41d7-999e-cc6a16bb84e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b8a74815-d1f6-40cc-bc66-76fa00c54cda phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dae7578e-508b-4497-8af7-cb1c05f87170 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8e94ed5a-c189-48a6-91ae-1e442e851a28 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f7091c40-adc7-4c10-8979-a102cf2758c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c270a14-a658-4151-854a-d81d6f3d3a1c phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5da0ee0-8421-47dc-81ba-39ddb13347ef phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14245efe-ed11-47a9-9c5c-778e6b397eba phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a55cf8e-ed62-4eb0-8fdd-c9fe6cacfc3f phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fbeddd46-1b9b-4730-bf18-1ea26171a3f2 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4f2e4ed-f6fd-4847-85dd-3d62f5b15625 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d643b7e-c425-43e2-9fc7-dfaca7586770 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01e0c099-fc41-411a-9f7e-946209ec875a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3dd1954-5537-4a07-a7d6-41d47ec4bd61 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a956ddc7-2607-4586-a227-cecbf70f301b phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f7600d2-7f29-494b-afdd-00d8e853137b phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61dcfdeb-2121-4ee3-81a3-cef6c01bbdff phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d51eb45c-e121-4cb3-b93b-da3ca85f15e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:974ddee0-3aef-49e6-ac36-7915860120bb phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:699d0604-565b-4dfc-8c6b-f97505edb885 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:522c2349-3950-401d-b5dd-9c61a0354f5d phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57b8a59f-2b33-426b-8dcf-51f457bfd404 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f7570bce-a527-4114-92d2-d38adcfff543 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4936e49-2d15-4816-a496-0570fcf6f3cb phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df1688d8-681b-4399-9389-09e4bad2736a phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3a5c795-82bd-478e-959c-f410844aee0f phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82fc00bf-496d-4d48-9fed-aec918a47541 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46459e58-f8f3-4232-a6d1-df4e26882a94 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:3a904bb0-1b74-4729-bf15-bb9563d9d605 phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:f7f9d28f-2ce1-4621-ad62-6bbe10a715bc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e908714b-9b5a-4f57-bdec-a8138cee75a3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:301e0ded-9de9-465e-a8a2-9679034de5b9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:95ff6f4f-5ea3-48b0-a06b-6c68a6a93e52 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:980ca4bf-4c5c-43a3-afe5-dba302a029ce phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:09ff273e-e995-4693-9fa8-88d0df5411b1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:89772b58-6b7b-4b81-816f-d0929f093d1f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f4bd5b8a-ae94-45ee-a0c8-f1da632d0cdd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5a80d456-428c-43a9-bc49-fc03a8076cc7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:34d1f75b-3788-44c1-849d-bf87582c4fbc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:67c8b6ef-4e74-4c99-b95b-78830480f309 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a6f88c78-2c90-4b18-9dae-978d034ece8f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2fb8296b-4176-4fda-ac5b-3117e298f055 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:33d94f30-8ea3-4740-91ef-90b9948ede6c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aec93276-f730-48cf-a698-b57f9ded9c4c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d2ee1b74-67c2-4697-86a8-b2bcfffd9fef phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e3c3e10a-42fc-4ef8-b8c0-825a9b767e3a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5d515a8a-6367-4825-9d01-95bcdca4bf34 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:34116d4e-3611-4418-9909-da4ccb1366d1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bde897f4-4a6f-4699-8001-355bce6657cd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db33d8db-8fa2-42ac-8724-5f73eef1af87 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:235056f2-6833-4297-a104-619c31dfe114 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ade091d-89a5-4649-aed4-4e41cb1cd9e1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2b023d96-3780-488b-81a7-1112eff75530 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2bfbb498-ccac-49b2-9cd8-87d5a4593e24 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0b0764b6-1eef-4251-bce0-27c1b84c5513 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4c8f0145-1b09-49cb-b9c5-44a501988dc8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4c0fb6a-9996-4b06-aaa3-f36e0fc411ea phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82b72758-6d9e-4681-b256-a876de6d3f15 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ae4bfd7-7009-4e16-8a46-d5f293cb279a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3460faff-501d-447b-a650-55f14478918a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1978659d-fd09-460e-90ad-d340845123c5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8484518e-a5e5-4dd9-b8c5-a31968168788 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c1ccf6fe-13df-4180-b17d-6b80689447b8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cd8f7a5b-98f3-4796-9ec5-f79f004be490 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7228c687-cf03-4734-87d1-0302f98f543a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a362590-0757-4c25-8e98-78e0314cd7e8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a276d41c-cbde-4984-ae11-a66e61aafcdd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc5e6404-4fc8-4df6-97fe-f50c8b443189 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:baacf725-ff7b-409d-acc3-13740b43a1d8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:16de2264-8038-48e5-bdf5-ebf36ebc9ea3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8765f16-d5e1-4ce9-a1de-5f331301a6fe phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:56deecf7-91c1-43ec-a352-4b091eb33a7a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18af91d6-a137-4188-8a2a-7f7755aca1cf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bd053a19-3903-49b7-a119-6ae3f9ae16fd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5652dea1-aeb1-4130-9bfb-5075f5bd4791 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dbbbb587-82c1-4911-b53c-33cd0f28c5b0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:42482ac0-ff65-4c91-94bc-424a7b60568c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0755f0fd-8c5f-4851-8f80-078f64c18a22 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e868361-904d-442f-b101-bcf9e1fe4fad phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1701043-acf6-4930-948d-bbff113bf3e6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f8efddf-9ee1-43cc-b6da-e86f85166262 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0292b0d-c71c-4e12-899d-3afea65ce47c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e978e87-ed29-4793-88e2-7908fdfb50c4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f12e1da-37d9-4f83-a9e4-2e2d22996672 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75c38875-44e2-472b-9eb7-bdf8125a080a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:28f7a162-3cb1-4f64-a4e0-7147cbbfda65 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2dd015e3-52c0-4207-851f-ce0f80c5c2ee phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5cb7aa5-3ba6-4967-9a37-61691d7b8189 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5ca1186-9254-4f09-92c2-fa192d5e4170 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01c96946-3ec2-4c55-9b2d-fcfe58aea535 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ccb00da-f296-4023-b52d-a55c5f60c8f0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e66c1a69-4c9e-4958-afb1-a8b21077001f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f851928-5d3a-44af-88e7-cf796c629488 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1204a423-d263-405a-88e2-51382c00722f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:990f9976-dcf3-463c-bff8-e1e5207c77d8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c04ea802-8a12-43e8-b271-bd9a7b1df313 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac2979cf-c04a-42f3-99ff-bdd49d839be5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:63264dff-0022-4359-97a1-f1804a9c8db0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d09f752-cbf4-4583-aa5f-7765e1b403c9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2c3d3f7-af2f-4eed-b512-710878644fac phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:41413b55-7bb9-4920-b86a-7ba1982d8e7c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:252e0ed6-e5ed-48af-8617-0747ef67fe1f phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cb8dcbee-e6ba-4e84-99b3-b03411e68bea phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:721cd2a2-309b-4953-8521-f31c88cb9d38 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cfcef1b5-0bfe-416b-98c7-1fdc6a5cfbc0 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:697a4d4a-adb3-4e2c-82ae-72ef152cf479 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ec33cbaf-7122-455d-af54-3955448468f0 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:563d8542-5954-4486-9e08-c105908e1905 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:26c49744-4967-4e99-a64b-21fb23b78c38 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:db16a34a-6a68-4e9c-8114-d5cdb85582ed phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5b494b98-2c65-42b3-b1c1-6571ef9cbdbb phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d4eaa2cf-e263-425c-bbae-a4153cf1dbdc phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5425cadb-18b3-4126-a723-68e91e73f2c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2afb7a5a-6954-4de4-83da-0afa0e226d57 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e4e052ad-b785-403a-b4bb-9c560c5426d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5221ac0c-2c76-4053-ab22-6f136abc6105 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e3670a81-d402-42ca-84a5-bc3ca0c320e9 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6073e184-0ffb-4622-9d96-0a798eac3b4e phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f51a9e9d-929b-4340-a9d3-deb0c6d297ee phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3699a9f-078f-4ecc-b490-c8cf349f6d5b phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f60fd9a2-9a3b-43c7-b2fb-02bbb76b5ea2 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d43c591b-62c3-4b5c-bcf1-318d34bd87a9 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc07776b-2366-447b-ba63-592a466811ea phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a0c46d8a-81f2-4539-942f-c49be8e2cc11 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:788d1f7f-0707-4392-80a1-ae0d3a5b83d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f0796a9-bbed-4b75-93d3-c626bda4ae5e phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cd61cc20-ab35-4162-acae-96c3bf252835 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7fa3b9a6-9a02-4d83-b9af-3bd4d9a24820 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8765600e-e6c1-4c56-9c77-31d96c2d6c58 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:63a2c54b-15d0-4a0c-9fc6-2b32913e150f phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4ac2db68-cf44-492d-a76d-fffed17a408c phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87b0607f-cfde-437f-a3cf-d863f26a497f phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cb070f67-466c-4e00-a2aa-b202a7725974 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0d2045ed-fae0-4848-878d-3f9f27e59b38 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0dc1b91-9679-409d-9351-3776f0bb6222 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:361cc2ab-4cb8-4783-91d7-65ba0b9ddaa8 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d304266d-0a49-428e-9dd1-97168ad8364e phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee43f048-89a4-45db-81d4-d359d5137ae1 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e1afefec-37de-4db2-bf1d-f0ba31edd002 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:68346146-5406-43b0-806a-4a8bb57ef238 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ae97811-1d7b-4930-8fd1-c5ced5ba0c20 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e93f45bf-6632-4abf-aa97-f12c656e1643 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:259e18d7-3f2e-458f-b80f-13683c2d8634 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb92074b-22b9-41bb-b249-e51c59d8689b phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5963495d-54ba-47f8-8867-7c402cc908f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18faaa6e-c1c5-445f-8d33-b9fb36da29bd phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:a7e98944-667e-4041-a907-7c4f0c5010bd phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:490aae96-8f2a-458f-91ec-2f431b72e57a phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:22634af7-701c-45ab-9705-c4111d1be908 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0ae683ba-f845-4bfa-8d77-b84417e46248 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2582a53a-5593-4c85-ba55-7dd47a62d132 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6096f046-e5cd-4c67-b98a-2ad67de8313a phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c2b71e57-13c2-4705-a5b4-a8c72094cb40 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c4ee5ace-a4bb-476b-89d3-08b2a92e7cc7 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fcd0d3e4-c74e-4ac1-8a50-e00bed1c34af phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ffac40a4-c115-44f3-b28f-d97322a9e134 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:55577121-3bcb-4cb0-9436-fe6b869a17fd phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:378d7e46-1edd-4da3-a990-22b4a3798ecc phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b865a103-9efd-4260-bc73-e8c592bbcc7e phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:85a53ad7-a616-47f9-97f9-d4077fa80004 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9f72f9a6-b7b1-4472-9419-fb5020646934 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4c14e6cf-be83-4ff8-939c-7438e49aa364 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c221c44e-5386-4085-b7a1-05f064a7147b phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c2fd2106-b123-4750-8ff3-dc5ee20cf3dd phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2e2bbc44-6dd9-4c33-bd7e-4f835556c028 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:21f04852-d8c6-438b-af48-92f9f07aed48 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a27013d6-d59d-4a0e-b826-8c4ca7319421 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4fe110db-a687-418b-9e1b-dd6c2b0b7014 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0eabd829-27d6-4d1e-b44e-db4880804159 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:633c40ee-66c9-4194-8ed2-9146e3b2469a phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70a44179-9ba7-46d1-a9fc-18c444d653aa phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ec46bf3-6021-43ac-9b0d-c81adb9877c9 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f57ed1f6-b7a7-4619-b6a9-49126fb54512 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fba0dbb2-8242-4a10-b7f6-df96e5cd5f8f phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:356f5a88-f1cb-423c-a49c-ef18086af252 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a9d9601c-bf41-479f-900f-1cbeefa51c52 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93a74584-f027-4901-b942-7b06a712b2a7 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:81da69e7-2a32-46e5-8822-34ba72a38004 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f98991b-b5f5-41eb-b959-313097461774 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5d37b82d-3eb2-4056-8b31-50129987fcfd phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6dc41f2-22cb-4c11-9078-8d9d632b3298 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93d202a1-ff65-4a65-9eee-07ccc95086a6 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c9ec729-da29-48fe-b2e2-b7b101152ca0 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1fac998c-9be0-46e2-8d6c-2f388b2d158c phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2ce514c-a6e7-40db-9945-26ebc94d0298 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:afaab699-a24a-4818-af52-3dfc52c3d2c5 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:99f6ad05-14b6-4f19-98db-ade4c22a5e9d phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:50f59cf8-e624-4db3-af6c-f2cf2e6e7d79 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d25e98f2-cd8a-4877-9e12-66b6e7135b51 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d53f660a-f256-4337-aac3-7c91e9893d38 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7507ecb-39fc-416e-809b-c568446139a3 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e834097-294e-4d0c-bf62-34c8aec173cb phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d4ee36d-d8a9-4b31-ac6e-a6076c8227c8 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1caac7a1-4e1b-4559-8071-3cf2b23530cb phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a089792-abd3-4e00-b383-23f7575ed4cd phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:0d9af50b-0b02-49a8-a907-3e2262abfdd7 phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:9ff5d934-b978-47ef-96a7-6f4853dde1e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:56d6627d-6462-44ba-840f-d78d1cb99b0d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:637b3e24-27cf-432c-9a0e-f6f432c11b5b phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:23955d30-29cd-481a-a8cf-2e34469e7f72 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:23f74153-78a6-445f-a072-2f983dee8b1f phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a03e04a3-1258-4a79-b938-053cfcc6f903 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bb24c4ce-e979-482f-b4fa-889f81344b3f phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1160a81c-fcd5-457a-b811-d72d6187fd4d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8fde5ab8-f11a-43be-9684-de18c906ce47 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d4af5f22-c5af-4f5c-b51f-2db6d3e0b600 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ff2a899e-e716-424e-a01c-aa0087f61c0d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:946c32e6-af38-4e06-9934-0eb3b4f19ff6 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a1224a8a-4455-4a82-9903-fd9a5693d735 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8b211aac-9c55-4873-800f-1a4258c51954 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b762ad7c-d563-4b27-9382-ac4fb8e1757e phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:236da20f-48ad-4760-86d9-16ee6909abef phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c111fd7c-1df8-46e7-a709-a8536c286d12 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:96a93916-cb2c-4af2-83e3-28f3480b7bb6 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2cb02573-09af-413e-bfd6-8f53c7988c0d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:43a3fb37-b712-48cd-a188-48d6bc2b8fbb phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3ab29a46-5dde-4850-8848-30542a3c4254 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5d04cf2b-5db2-432a-991d-e47dd177468c phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:af6faa3b-71b8-485c-883e-bb253b2b640c phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ff8e9884-ccf2-4afa-bed4-139ea429cf83 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:eee17b64-c4de-456c-92f0-7feba4576bc2 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:377bc8a9-5400-4df8-9e3d-eb3a4b3ca18d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:12d9529b-fb16-4b5b-ac6d-0f370642f010 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:25ec98e9-8ab5-44a9-be44-63801d1532d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:570085ff-6377-4c9f-b5da-284098eec086 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a68fb322-8b97-4678-8043-e8be08bf2321 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8af17f12-8b72-4e06-ba42-06eb07150f46 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8e2b25fe-25de-413d-9638-48ae04dd370d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8cb67818-1c3f-42c3-888b-22b56d98997f phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6d1e3ec7-3823-4132-92a8-538a613d70b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7b03c290-f0f2-4676-85ce-42fbb51a7670 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:15c9788f-9dcf-4427-b454-784f4ea49e5a phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b4d2391-c5ba-4cac-905e-accb82cc20af phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:016b0f5e-8daa-4750-b83e-85df2b9df5c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3625a93e-b3e2-4221-98fe-0f15efe33ca2 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c56351ca-7155-4349-befc-a5d7796ce6cf phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:316d4537-5498-4b7c-b0ff-71db3337fa6f phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d01ccb1-7d0b-4dbd-8162-e04e985e2261 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b0fc0742-ec2a-4021-bb4f-eb909e9a006d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:223b21a0-2b4e-4393-880a-4db78c89e159 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e1e132c7-a85f-4c77-a275-3a31e60b26a5 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3b44641-07aa-408c-8e56-141d54720590 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e650261-a6e0-43f1-9e80-6e150347e91c phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:806733cf-206a-4223-a1cc-ba49326d00af phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9e8c296-afd5-45ea-aff7-d642810bb147 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:886419f9-8119-456d-891f-923b0c5ad136 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9578aab-1dcb-4fc8-a9b8-a53d194abc76 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:94685bfc-c20a-4f52-ae27-c4abb4ca5226 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:62ee1f46-3be4-488a-91c5-e3814083cfbf phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c31039d2-9eb1-4b4e-9390-0d559f55a05d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d899df9-5a5b-4685-9e1b-cf9f89342ded phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17279d28-e642-4384-a1f4-86987fc42fad phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:546caf9e-39ff-4f9b-b053-5550409adf8b phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05395435-4322-40b5-ac87-457af5d75448 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4fa7a637-70e8-4f5a-8ec0-ff783a476b78 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:267f517e-7d41-4813-b043-0969c4f6a4d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cbc8c670-99c0-461b-87fb-f36f60a1d37d phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0db95ac2-7035-49af-8d5a-de9a18caf423 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a499bbb1-6b13-4bf0-90f2-37aa64e4681a phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a4d35b78-50bc-4aa6-80d3-87447ab91fd4 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:689b1364-b205-48bc-8d25-a4d1e03a7e78 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2b901fc5-4a07-4b33-9b80-c456f597d35c phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fbebb2a6-7ea2-4a04-8969-1cd768b1775e phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:949abe46-b38d-4097-bfcf-27f0bc06bf2f phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b5f0a424-7b2a-467f-a032-c407e1fca30e phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4947ebf1-07fc-4eb8-8d42-aca22a92f7ae phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4c0e5381-15f9-47d9-a572-11a3088724c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:99a95e21-7f5b-4fa8-b412-9597db0d7d95 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:76a3a068-5dd3-4842-a924-c7d1bf4d4043 phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:e4cf9934-3183-4239-a6be-ecc74533127a phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:06c2e818-f7b9-44a3-93e1-fe163440304e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5e8c6a0c-a1a4-4648-ab2a-3809a0c7497f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f01e1f43-34df-4093-84f9-8d8a5c5fe15f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5c6e8709-6af0-4756-8d36-d33c820f4dbf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2273d8ae-5aa7-4236-a44a-e607ea88370f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:74713c22-ee85-413d-b47a-94f1000d72d4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:22043e05-56bb-4f7a-b082-50e5e0f31190 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:55fbaa15-b90e-4bcc-b941-fe66d98f2102 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3c6ee4b2-f8fc-4ba7-b5ad-e60d29d9d7de phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:871ff009-f456-4da6-81fd-9cefdd9b19e3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2651c69d-6ea9-4e2d-a092-f1d0dd9b2a04 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:45604045-7388-4d4c-afc8-2484aa7ccbf8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e387aa84-c6b3-4b05-9cfb-651c104fbf54 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ac2eb909-66bd-449a-acbb-c020b8fa901c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:60ae7a0c-2611-462a-8b92-615380d57515 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5d55d6ea-f47c-44f8-b9f6-a553a855533c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d22a5bd1-6fd4-4fe3-b123-dc8c4e3d9136 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6cdcc0cb-b0b4-4c85-8e72-7ad89d57e2a0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1408ab3d-9e87-468c-a676-5f7bae9c4756 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:38efe9a4-22bb-4154-9680-78fdb3ea1482 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f57fb503-f596-4d21-b0ff-12e3702b2eb7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fc471015-f60a-4bd9-b317-85f20128cfe4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee3c1b40-d352-404e-beb4-b89c9c3a384c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1912b490-4fd5-4536-a8ea-6341b59a73f4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1422caa8-4be7-4a8f-ac12-9d3de78d67d8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1597c6b-69f4-47bb-ad86-ae17a37c486c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1926f7f9-15ee-46ed-9706-46f1ee550fc3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d6be2d1-bf98-42ee-8b59-483c08a9c2b7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0bd5be5b-266e-44f6-bdbc-65cc792fa606 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4e80fb97-dcc8-4365-bf91-af34f4f05509 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7cb8f40-a2b9-44a1-974a-db99762b166a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:350e687d-1682-4c27-88b0-084c9d142be2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33b65ffe-e526-4347-be37-a9b0388d8d76 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:877cfcd6-841b-4a54-b495-394fdad5f7db phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6006ff34-5c42-4138-9ad1-bc2fb6b68b41 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37a121c4-d1e7-4d21-a18d-ca26aa6707e1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df87a5ac-e109-4367-a8b8-b84f88d4a616 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5376f579-a146-4bc9-adfc-a1ea385ecd18 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eaf82495-3959-4d37-af98-24beac146e57 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:94a5be17-5970-4f47-8d16-a2788a4f52f4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d69fdce8-8213-41ad-9939-279d95d44f3b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a26259d3-e661-4ec0-aaaf-a10335ad82ff phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:16b732ba-035e-435a-9db9-a125d23db5cf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:21386978-9f57-4f25-8d86-eb2e39d4a039 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e0a7604-e847-4fc9-9162-08d3987a2aa3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:714efc0f-2287-4dce-ac53-7d8bf006fee9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:68d27ed7-e630-4866-8cb2-0f6e52e80154 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8eb3540b-d1ba-4577-99f9-3c7f2e335c74 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7e3979e3-e4ae-47f8-a287-a05fadaee36d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:058c3e1b-04bd-4888-98a7-d4aaf3f9d7a1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:a3b6bed4-d92f-4439-b375-3577809c7055 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e11d37ea-96e5-4bae-b779-ba30fc7e0065 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e98c8c7c-6b43-4748-acd1-e1a2edb7044f phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:24720f48-4d44-4e82-aad1-aae6495bc09a phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f0beac55-f74f-4e07-bc3a-7357efc3cf10 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:22c5a88b-6f74-4a62-a6b4-9226ee6816e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:dcf96cda-286a-4acd-8be5-401d513534e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0c7dd2ca-f88c-49f7-9a73-6ca3e0f58d1a phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f340a961-2f58-4fd3-8afa-c6271277b91e phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e74a1d2d-72b4-40d6-bac2-5cee317ac2ea phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:472e84a0-7c1e-4601-892b-62dc93514e9a phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0be909c9-b56c-46d7-bd36-00a825781236 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9903a5ca-71b3-4c00-ab81-a633a293dabf phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:12dc33b2-311d-42c4-9749-c49dce57e2b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49255644-e449-4150-8977-61d95df1649d phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46da94eb-b883-4149-b249-1e984a91c66d phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e86a42c-0844-41d6-9ce1-49d5067d0352 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ff6372bf-453f-44e7-93f3-5d4b29ce52d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f2d3bf9-7913-414a-9d58-916882fa8d28 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d885c4c-ea81-4d66-8cd0-52e3cdbfd659 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:972ca934-6847-421b-9a59-1edf92690998 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:40a1af99-969e-425b-91a9-a1e54c5168f2 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2afa1a1d-269a-4c91-98af-f901120863b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b677cac0-3481-426f-93a5-22300879b5de phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bc2e34dc-d739-465d-8e2e-e8988a43cb98 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:275f0933-e908-494d-9e12-fbe546b2ceb5 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dd11b3a1-d391-4e67-9523-03f09915451b phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:43d2bb98-af1d-40a2-8add-7daa6d2b1f73 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:39bbf467-78e8-43fd-877a-b87480127b4c phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dbbdd226-dc51-402a-9547-8e9a84530386 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea47ed2f-241e-408f-9064-fa98581dfd2d phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c90e5bef-f270-4263-a795-669095a09fa2 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0182c0f9-9afc-44fb-8c39-2a615187f479 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f86666e-b32a-4866-a708-c1690101f333 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c042624c-7657-4128-b61e-ee227af28686 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5a2b0b6-1e79-44df-bd77-ad2492cc04c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c242b14a-f1e4-452a-b1a3-36a4c28f3f1e phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f89effe-184d-44c4-b9f5-3ee182b61acd phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b5e6db1-6d0f-46ec-b997-fae9a34d4db2 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30d02f78-b10a-46b2-abfd-4eec254ed1c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b8bd659e-df8b-433b-b8e0-312ff7a9d4ba phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:566b8b64-0351-4beb-81d6-5b8e7025968f phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a00a979-1b0e-47a7-8ea0-0818306d9943 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aad8a8a1-63cf-43ed-8599-2b199260570e phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23213421-f558-4f8f-a373-77b050d9f62d phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fdb0499d-0771-4b53-ad4f-91ba418fd90c phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8648f81a-fe71-42c4-829c-cd694b35d47f phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:387ab7f4-2ea4-4d44-8506-3bdb79913843 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6e67dfd-31f2-488b-8d6d-0e418f224159 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b94789ee-5422-4338-b760-6b315889c6ae phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:274a3268-3d46-46fb-b579-32c978cbe3b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:22466315-f9b2-4f71-8538-2a28003c4749 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:782e5775-38ae-41b4-84a0-0c62dcdaf203 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:978ddae0-bbf5-4c27-8394-d9be9c1b1634 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3915adba-ac2d-454a-b330-169ef193b875 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7fee3155-bdcf-4e4c-a97c-29db609f3b00 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7b46689-dca9-4cbc-98ea-66d43edb0fd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb4d7d45-b2f3-46cb-ace4-66d64d530137 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:156bfd9c-6859-4d8c-a23e-b96900ef5df6 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b63ac50d-0a6b-498c-bea0-ddf37b996746 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2b11e81b-32c9-495c-8e6d-b1c1a15311d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a502f3b-3fef-4e0e-9ae2-bede298382e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:899f2d8f-e86d-4b3f-ae28-87b14012a539 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e5ec173-7b5a-418d-a605-8f644aecec58 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:7b69992b-498e-40db-adf2-1ec6ca9c7ff4 phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:4fad444d-5361-48bb-a020-f7b17567bde7 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:285c206f-b5d6-4ad4-94ce-979f9f916664 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ec7bf74a-3666-443e-916d-5d3d54269c86 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:69f00f59-5a2d-4224-b63c-64b43e82edc3 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:823bf946-5215-435b-9e94-c8e90e1952eb phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7ed9c849-d95f-4a96-be5c-d5e2b64e8574 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:615452b8-b95c-4a4f-bc0a-61011ac447ad phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fe4147c2-0358-4818-998c-b97b910ed5ac phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e19c964-84a7-4b7a-aad7-9ea30091b06d phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5d3dcf00-1d70-4178-bb04-f6f5c0a6e5d9 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cd940ea2-0dde-40e0-b489-993049761911 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:405a3c68-5bfc-48f7-aa87-00106249d669 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bec2c152-680c-4fd8-b23a-7330e172cf84 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66a293db-8efc-4e38-9d8c-96ffa1105a8e phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:113b48fd-554d-4677-967c-dea9818dac26 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19773e2c-8abf-4d9e-96b6-f4d4f1c03fe9 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea226195-a8e0-4845-a73f-df2ba0ff7657 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2cfc891f-2136-483a-861c-d525c4c83925 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db4002a6-08a3-4cdb-bf43-48033c36025e phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:39ac0bf8-e4c0-4dad-a66e-7adc1abd4a19 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:64a36fb8-20b8-444c-b490-3e745a356be8 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ebe45ab7-5484-4496-a042-9d414e97314f phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c49a382f-d302-4e79-a4c4-c8e3cee71041 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da2a50f3-2cdc-460e-b302-8f943fb833b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d224389c-b404-4dc7-9de2-02f4a798ed10 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f7ced2a-8f26-470f-87f9-51926058bea3 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:62856adb-f8ac-4ffb-9339-35bc770fbf15 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f5691fb-2223-4b40-8a0b-cc6291f241d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:12523452-0884-48d7-bf05-689f8d8bf928 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2ec6e76-2607-41ec-8507-8216d64e9c30 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c0341a9-13db-4921-9da4-6685a7970c5b phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:92ce43d9-a216-4561-b702-0fee4f0930cc phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f06b7b40-1fb3-4b58-b5fe-4ba2a44d8fe3 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b35576a-d902-4e06-8c20-f866d4377fce phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:76abbcb3-a955-4f0d-9bb6-71cb6ede02d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fbd45803-0757-4327-be2e-ced715ee3a4b phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:62305d9d-ccaf-4648-aeeb-02f269a57a3e phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:53d9c2f1-92ad-44eb-8128-46bc303e3a82 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e3fb94f0-a477-4350-92a7-c505bc6d6f0e phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9a5ea5f-882a-465b-8dd8-d9b9358067ca phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7ce91db-d9b4-4cae-af65-514b999d5664 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61de30c7-3d19-4699-86a5-bbc0341df567 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69b966f7-6219-4e9f-bda4-1964f067ea55 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8d4085b-1236-49c9-b529-7d8d23453786 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2587b48b-8caf-4884-ac43-9867056c9cc6 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5dec99dd-84f0-408a-8913-2c354cc1daab phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c9a0dce3-645f-49d4-9d00-dc3919bf2681 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef669bdf-1f25-4f90-9d49-42c4114feb85 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65aaed85-6309-45a5-aa62-199e6251040a phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a89cefec-a485-4da6-bac1-1ac6f604c21b phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2f095c3-6e5d-4a46-a1fa-fddf7c3c0fd6 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14e867cb-6958-4657-8b10-7befc7d0a52f phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b96f652-ac87-4c59-9865-ea109bb9376b phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:842c297c-fb72-48ee-917c-587454da5f43 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f9755b38-cb20-427d-8a7a-26a2f5ddbe0d phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c366a3c8-1ac9-4957-81d1-183d3a4c9299 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8e746e80-d386-43ea-9dd9-e2c0a2061937 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:561b6807-c648-4eef-bfed-270af21c2d0a phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19d9fc29-b927-41c8-8f00-10dd8e632a00 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25253baf-edb1-4789-95f2-b4b19e8603dc phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a39ea66-f8e4-4833-a727-2264eae992c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed9d3eeb-4914-4d49-b783-b94ae43537a1 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fc1c22e4-abbc-466d-84ec-d5b4525d00c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:83f3f4be-f8cb-40d9-bf31-03e539dc5306 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c9ee08ef-cb90-441f-b4d6-3cc840c87b85 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a260b61a-3339-4091-a035-55ee7ab4ebcc phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:99662c0b-5c78-4ab8-aeed-36d1fd624a73 phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:b1406e3c-2830-44b5-8fca-ffe1880ba194 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2ec15e92-e845-48da-8d20-3f2337b864ad phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a5bf28b9-bc00-4967-b608-ab9d57735f0b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fab4e368-2a63-40bb-ae47-a30910950786 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:faf2446a-3502-48a6-9a48-3140528bd54e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d096641e-f75e-4865-965b-a9685ba852a7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3e2b6690-31b4-4601-8e1d-e15952e77e2f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:db9b16cc-e2cf-4377-b7d4-1198804c3af7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e3545bf9-dd19-4adb-bd4b-c232602524cd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c1713599-5705-4fc5-9901-aea34e17997b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:959260c1-e52a-44fe-82c7-ea227a644dcf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8a69ba39-2387-4930-83e2-3d8dae153131 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f49b1b07-9e93-40d8-bead-770a4826fb15 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:af62a27e-bc22-41c8-8227-958f089b239f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:682c0a8f-8cc7-4231-b4de-588d99a1b1dc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:58ca9a3a-94b6-44f2-b103-4f313044861b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:01be1e65-8c3d-4678-abac-3bfe1b71bce8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5fefdb3c-2c4b-45fb-aae8-08c6de272667 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:68b3467b-f614-4571-b4a8-d4bb79498d31 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:37869a15-a41a-4564-a9f6-af02e99c3634 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:84523346-e6c3-4b05-bbbd-e3853320e740 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9a3a3d2e-1fbe-410a-b59d-68b0f0ebc0bb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0740e914-ae66-4688-9aef-e24ac74f15ec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9135a029-66ad-43e6-9219-9a487169036f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3d90b6bf-9bfa-4085-9dfa-a9e4ea17f02e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca8e8946-e8d7-4698-8a61-c032ed8199cc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7673a50a-42ca-426c-a243-587d886ac193 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ec42bf4-f15d-4227-abb2-e6722e52875d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d30254c-cdef-401f-9da7-f271347e962a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5710a5d1-91d8-4b69-a932-2d61ff068ef5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:94ebed0e-2400-4839-aaa8-69e2c511fd40 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:af4d9024-485b-4108-a84c-2a0f71cd22ba phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dcd7eb0e-78f0-4e0a-8fbf-13d4952cfea5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4be6b8b6-a3d6-45ef-b2e5-77db088840d7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d032fbc1-6cff-46c0-9443-c65b1ae17a4e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07fa1edd-af2e-4010-9527-b3767f1ee37e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1a8f932-ea65-4b16-8aea-203fea9eea05 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33948c64-e0db-402c-b777-9be6f2f2505c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b8ebf34c-b3e2-4dea-839a-9f1877a6d6f8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2559c440-d04f-44b3-944a-28559e34ec52 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df424e72-5638-4957-a4b2-ba65dbff75b4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ceff2cf-1fb8-4c3f-a681-360aa566976b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e31382d0-e470-4fc7-bb12-7e0885f8c096 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:54626758-8a7f-4fea-9b2e-522d919084ab phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3026c368-01d1-4c9a-9e69-3a966c6cf642 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b442ebc-24e6-437b-a038-bd1c3326f94b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a7f12b8-ac81-4e9f-8b14-2248a4ef3af9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0969c7e-621a-48c5-8e73-5801f68f9ab6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9cdcc0f8-1229-42a6-b50f-23954c92064b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8349d651-0fb1-4654-85eb-2b40337c7c68 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0d78d510-6722-4f15-92ef-939d871ee48c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:532575f3-fdab-4a0d-a5bd-115c9d7dce72 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6fa212df-720b-4956-b404-77fb2f85bf28 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32aaf94f-5831-430d-a96d-1789e60463c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e03d55d-948b-41ca-8436-54eb57dfe1f4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bbcbe0bf-1c1e-497f-a8d9-24958efe7f08 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7314010b-3dfc-464f-b73f-7f461ac29122 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6959e41-874f-4844-953e-ce1bfc1d3ce5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c20df603-6624-4875-bbb8-412fe83c497d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cf378570-dbce-4f58-8280-3b626d9e9425 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b73a64ab-d7b0-490b-91bb-267100a5765b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:02b95ea1-ea41-43e5-969d-5215bc86e375 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc2240fe-0037-4baa-8b52-9055c910e1ac phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d91dd7e-7165-4b2d-b95f-b69d3a1415e3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:91df8afd-66f0-4daa-8b17-cefa754fcded phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c05ffae-0e67-4111-85b1-78fc5fb4f678 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a0446c8c-c416-4fad-9e80-f63d101cab49 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:633b05d1-4582-4d7d-9ef1-e5525b7a0816 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87ee3fdd-1864-4d7c-ad7a-f6c7769861bd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8d6cbe0-5d50-4004-b604-b20dcd4ebb5c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a390138-d686-4531-8842-d9b798a75066 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:254d3fc9-ac7c-446f-bf8a-26f65fc1cd6b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0665ec8c-5aba-4cb3-bd82-9141b6b5c433 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:407f8231-60f8-4ea0-bf75-b0db686dd5ba phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:183cb21d-b3e1-4a59-ba2a-d9fb713a90c0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:3bfe804f-7e07-473d-87ef-c6cfe8cc0cd5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:90f20662-232c-4ab6-b11e-9c9299c5a935 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:09c7740f-8c36-4593-8abf-6d8bddaa54cc phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a8b01a12-64e0-49ce-ae4c-058ffe8da0eb phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e0263a3d-911c-40f9-b789-1f62e3ae4f6f phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aafa2122-60ec-47f8-824a-babd84a2e37f phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3e812c95-786d-45f4-ac32-97aa8a5dbb58 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:afe220b4-9620-4b55-a0ac-fabd2c081bfb phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a9ccb9ee-5135-4c5d-9db4-91ff5b001e2b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cf4bab09-73cd-4652-8345-c9fa9ce61f34 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:078403a5-ca59-4e49-b44a-bc59d9bc510d phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc7f03b3-857c-4eac-a275-2ab4b7e84934 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6cbd9b77-5161-4b41-8c5d-078c402edfb4 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e876106c-a737-4508-95b5-9e0266bfd0ab phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f454687-3d16-4242-bece-01a5f6edaf83 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6d53bc34-0316-4eb0-945a-95aa63964494 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c151d31b-72b0-4190-b088-c4dc772364bb phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32baa038-c5ea-4b35-b5ab-6451750dc88d phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:48ed4ae8-cf12-4e2e-961c-3a5321dbc8fc phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:44e9e6b3-ad18-4b73-ab1b-771cdfc40bf2 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d94461bc-db08-46b5-be2b-bc63db0265f6 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:251f0d15-83b5-4e27-ae80-0e0024fcdde0 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b8879dfb-e924-46ee-85c2-cdaf7bb7edd1 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a4bd540-1bf8-41d6-b5a1-717c627fa6b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce2941e9-3225-4d00-a3c5-45f7bc6a0644 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8003369c-579c-4217-9725-5adfa9975ad3 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7227ae96-dc0c-45db-abfb-e8f57d16b258 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:785c0450-c218-466c-94a7-c0717f513aab phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f13dab1-ad30-4d80-b3e4-93942ac287e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e249cc35-a8b6-48c4-8146-748079640b8d phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7e1de335-71d9-41e1-a914-6eb685ea4a4e phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19369c91-7e7a-46f0-ab3e-ab29abaaf80b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa5cb3c1-da3a-45d3-bea5-eeb1dcaed0b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:673a6b7f-78cf-4af6-bed8-6722598ac212 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6bede41e-6785-4d11-bf6a-fb5b62f28ca7 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e68e5f6-852c-476c-87ee-8764c73972b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ffae0fa3-a609-4cea-bbd3-babbfe73d062 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:40a32cc7-75a6-4758-b8a4-146092c6793e phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:550ff39b-6b07-4c0d-ac21-97853f7e9bd3 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:811cf8ef-caef-4068-9d55-5dce08e2634d phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d4494f61-bbbf-4181-9e51-6f2a4dd6ca68 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d01b0f65-74f9-4cba-8cb5-92e20343e201 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ba788c20-d91b-4603-8239-62b8184d786b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7bb62e3f-c990-42a8-a4ab-de4772b1c3bf phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c2ff89f6-7243-4306-82ab-01afac121f16 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:97a99008-1230-48a2-b04e-cb5d3873eeef phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e17eb521-3986-43c6-b5f2-d661745373cb phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95f6d2f9-891f-44f7-9bf9-6c86e800f1d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:29d3bfbe-ebcb-4525-97a6-80873562e19b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:10a7b6a6-a1f4-4cb7-89d3-e9cbc8da81be phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6f38715-f6f5-4737-8bd2-6f8f1282c521 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ce4e1c8-06fc-4c89-98e9-d11da2a78a2b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c22a0525-8552-439a-9a13-56cb6874c01c phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32c7993b-1c71-48d9-ad7a-9cb608679380 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:004a423f-f0b9-4bc7-8915-bf9b98b07549 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5173fcae-0130-48ea-b51a-e6fab8265ae8 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cb766f76-6b44-4e6d-84cd-dca9cbdd1c2d phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6fb85a63-407e-4ce1-895d-55de2418e93b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:157f7207-dae9-438d-b298-4ce6b5325fbd phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45afe732-2cc3-4a95-be6a-28a21f3aa072 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d644f7b6-ad6e-4197-93e9-38ef05eb7484 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:79951152-4874-4930-9dde-6749c7242d4d phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84b1f683-04ca-485d-b62f-0a7665aca081 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bd22948d-a067-4ac5-96b6-6d624bd1d097 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fdaa2d68-29b7-4015-9c77-c1cebccc826c phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0deeadc6-9243-45df-96b4-73857b7f0fab phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:be205962-38bd-434b-975c-ca59d48962f2 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9a01a2a-e3de-4f12-b7f9-02ec1b503680 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8573f1e3-e64e-485e-b506-becc44d223fc phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f26ec86-e1ce-416f-81a2-de00c5becd50 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4c7e87e-b5d8-4161-949c-a0c88b336e95 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee13bab6-e3ad-485c-88f4-803e98d1f98b phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:39bf9602-a0d2-40b7-b810-c842d68a3223 phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:a54d6188-f684-42a5-af69-951828a0a4c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2119547f-e689-47b9-bc71-fc790341c91b phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3054aed5-be37-426b-9dd1-1a257c22b8da phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:957f730c-76ff-49c8-ad28-49207a0db5d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f5239641-320f-48aa-baac-8b1a5e274530 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0fe2055c-923c-4295-9216-28e345391812 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c209b657-141d-4581-b6e9-552ba1e02895 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0c05dd5d-62fd-4ada-aab3-3adebc8f4f1d phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0395ca7a-518e-4332-96b7-532ee831e4e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f019ee3b-0936-448a-a7a8-70f60f1860c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b52a6c0f-d237-444d-920c-68e82430c573 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:07183071-2bbb-4d0f-be40-e23f851da478 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:003712e0-b0b5-48ac-84bf-45e30177fb3a phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3d22ca9-53ab-4973-a7ff-e8315a42e59e phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4841778d-614d-484c-b835-96b0ab046ce0 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:96d99e1d-812a-4fa4-b177-1c843ad00524 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1e33e17-c12e-49cf-b275-882bf9d8f7d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8279aca2-635f-4db6-8a40-d9e3b5cb559f phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17f88cfd-9bbc-435b-afe7-16b9f8d8ae85 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9d5b6fbb-8f32-4507-9a9d-30437e135967 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2efffbe0-7abf-4bcd-8d7d-7a71d6c37da1 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee44441c-5826-422b-9322-2e76c3c2711c phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f71691d-9137-4eb5-8fae-d276acda8e7b phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33a3203c-1c7c-43d0-bd78-1e27fc751f5d phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5f890fea-f186-4938-aea4-d4b9884231d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9dec734d-ce51-4824-8d5a-227c65e88886 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e70a8f47-8a96-4b44-b873-00f1c554f00a phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:907bf545-b357-4e4f-a782-26388595e8f3 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce10e71f-a608-46ae-b5ac-d9de48390869 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1aaa210c-a7cf-46d4-8784-afa1979b00f0 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:68840ea7-c5a4-4ce6-80cf-c349bce5d13f phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5f4eb745-8213-48f0-ab33-5b33719eb8b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef7ea274-d3d6-4cae-b6b3-1330c8b5d10a phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69d46a56-23a6-44f5-9bc9-3a0b8e7b3605 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6798005-fd8e-444c-8e17-e02533c6fad9 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8eab4741-54ef-4695-a0ac-0fa6cfff9900 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1c819cd-a639-4812-9b41-7acc30b3f866 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ab69c32-d918-405c-9cbf-6bee06ae96f1 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d8c3450-ea14-47ca-8d52-fb74a284670d phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ae986cd1-deea-4a2d-b34c-f8b046c11a4d phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33e5a52a-7ad3-4af6-b831-f550fa3bba10 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:29e801f5-1a75-443a-acf3-affedba5cbb3 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:97356f39-2d39-443d-ab20-04707d99fd58 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e875c22-b686-44e2-b83a-c82224e5bb00 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:777f158e-5164-4917-9db5-667848f73268 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aa239c61-6684-471d-9a85-fb787778ab80 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23f65bb5-21a4-4540-9c91-911df53473da phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0546f8cd-bf2e-4964-a8ca-e31ad0c7dfbc phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7728cdf8-c5c7-4497-8836-f1a6cd0e115f phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:77979c9b-8761-439b-b16b-60fa7c407f83 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de2adc71-78d3-477e-80d5-f460bfda22d0 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f4ab1d0-05e8-4176-b477-3363b51d1f1c phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bcc0475a-0db3-4801-914a-8c567b1d4dfd phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2b0ac358-6d9d-482e-b36f-1b670c012d81 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8659922-e465-40e5-9103-ed0e318ed8c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db40bd5d-3170-4dd9-90df-0431926a56b8 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:40608f70-0362-4e69-92a2-3cad82e364e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7559bfa0-360c-4dd3-b883-f6f97f2bf029 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e37a4b9d-912e-4e2b-98b8-41476432c986 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1e7636f-7bab-4b22-bb07-32356743ab1b phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5db4e300-915c-4a39-8197-3137d49469d1 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e1af2e8-e352-4f51-be48-b9f77965b264 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2347ea90-81f1-49c5-852b-c2f79596f900 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e1110ec-1d2c-4cee-8d5a-0c39bd43c8ef phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b2bba78-ce9b-4365-9306-203fab28a271 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:669df76a-5d43-46a3-9733-04cb6516088c phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0067f037-1f25-4587-b7df-4fdcdd5936dc phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0aa732a-340b-454c-8be1-9d27071d6a73 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1c8cba7-79a8-435c-b38f-447428e42417 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bd075828-2e4b-4af8-b029-befe0afe754d phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:503840ce-a95f-4c3a-b5df-c0052f3956a9 phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6fc47e98-07f1-42b3-84aa-25eff2551bc2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a75512e3-3215-450f-a6c5-0d2deae00523 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:877fb32e-c9bf-4dca-aa45-ecf2c2f9b3bb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e81226f4-2c49-4dfb-96b8-3b7c0b6bf712 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:86058af2-2307-4212-b247-a4924a536d6b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:986f7ff6-1ff6-4cf7-95d1-e24c23af43fe phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:52c770dc-78f9-4c31-9265-15cf5cfbab61 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4ca591a3-e49d-4da7-9616-8de09c379de4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bcd7a5ef-16cc-4ec1-b7af-53f6f9d58a9b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:077d7d4a-e7c5-4214-b55f-c52e993a1bdc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:30645a39-bee2-4fae-ae2e-eb786cef23ef phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3b08f16c-93df-493d-9338-f6cae3353261 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:14093863-c8a8-493c-b138-f8217f622d98 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:77eba3c1-a93b-48b0-ac6d-cd181b80edec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bdc34b16-4071-4a64-bb77-061ad708a4fa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ad6ec51-5207-43fd-a1af-2342df3f4b02 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:476f06ca-9f67-4d41-8084-ac84d7566785 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:62c0bee3-0854-407e-930d-d23a63c90d8a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30c152f9-6137-4879-9ad1-ed4dc288015b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e90ee08a-8fa0-4d27-aa61-c4ffafbadec8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5442104c-6480-4567-aa7c-f9893621b0a5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18f93c32-40d5-4445-ba1f-7d441676ca7c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df09a54e-6f8f-402c-b199-3b9115a32dcf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4c32fae-31bd-4bb3-8d7e-18b70516d3c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2fee29d2-a360-40f4-96d4-d73d49dfb2fa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b872b72-b77a-4e1b-ba33-10828bcb3e8e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:00dfc0e0-ec2e-40aa-9ae8-e29130bbe729 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:be882d2a-4429-4cb5-8a49-bd697a506e55 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c86c2482-7bf6-4fcd-bbed-5cb5d1d3fb06 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b044b9b2-8ea9-4ba7-9fa6-a5bf2792e040 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75257679-e2d3-4653-b608-6953d6d267ac phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33359635-c45e-4622-871b-fdf3c7433753 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2dc43422-32fd-4eaa-9525-8c5d5e6b228d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18b156c3-8c4f-49cb-a0b1-24088a155a48 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:689030a5-2b14-40af-9b32-ce07ea7dd2b0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9965aa92-bbd6-44a8-bc9c-58eb3d8aeaec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f4183d9-6e59-4b9c-9a03-17da4e828159 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:924ee731-df16-4667-86ae-658b3cff995f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:506b1f6e-6b84-4c35-a8d1-6e709b4bf07b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f68e8165-830f-40ff-a2fd-d50d7a5585db phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a228cd7d-de70-49cb-9648-80373eeb0500 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d70b163-cc7c-4f1a-aac3-3cb13fad6165 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b99c634e-b650-48ec-a7a3-d1e485bef59f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:919d7d5f-0c4c-42ce-9728-957c3d0dea45 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37b703ee-55ed-4042-a245-0091697e03de phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cca824da-b70c-4e7f-ba0c-354838c9c38d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eec534e9-8fac-432d-b70a-e7e4a60e36b0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a7c85468-a35c-4c74-b275-291124741728 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8c319eb-0d20-4a53-a89d-ca39f70ae5ca phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:085f2316-8f15-423c-b945-8d2f03573482 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e58ee74e-0ed5-4457-9a46-ec8b9fe93ee6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b8ecb4a-0243-472e-b1a2-59f7b5a110df phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87abef48-0ac0-4996-935e-650415f9aba2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d56bad2b-119f-49d4-91ad-2deb9269e97a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b2a819e4-1eeb-4451-95ee-4b0076607ac9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:50c94610-a396-4f6e-92c5-714b1cf84f9d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:12154d2c-716f-4c1e-bf3d-a153e885e827 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:ec51e12f-f328-4f7c-b92c-a4e0470a2377 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4fc6dec6-2e48-40b2-8577-587051af72e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:11c0ee86-5a01-46ab-b1c4-1b7e19996972 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e5b03953-71e3-4571-a203-0527dd707899 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bd51e245-7e32-4d2f-87fb-72e03522455b phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ef3a9c30-b073-46fc-ba9a-9170a2edf410 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d91031ff-4ec2-430c-9485-5857c5219c40 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cb269673-acd8-4112-9869-9c4b820379fc phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:57ee7910-b9d9-4c89-a4cd-ed25af2824a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:786f6b5c-2dc6-46b9-9ab0-1eb7b55788e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14b4d473-0509-4b7e-af23-c9fbd3747e16 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8b51045-1e93-4153-920f-f82668f26c20 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87e463df-1568-4572-9c6a-0431e4cfa986 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:feedd8f3-2bc1-47b8-8f43-56ce00a2f1c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f7054cdf-5db1-42ed-aa5c-85f38c7f6e2d phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:388c9898-0719-49b0-b159-9531165b0cc6 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de9f71cb-fd4a-4cf6-9e8c-c3421e997c0e phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:be7a0dc5-7b5e-4d1e-a4aa-6e47ad118378 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9730e660-01d6-4a17-8edc-a19c86e9ddac phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c96a061-9c5f-4a3e-8635-33e905952138 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9281b071-c9d4-4696-8e80-135c8ab7b3a7 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95d50537-064e-48cd-95e0-838d36463370 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f59435b-3005-43da-9c99-aa365ab5d979 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:968443fa-6fd3-4d67-a9b9-a114584d7677 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:136524f7-8411-450a-92c7-57d08874fc83 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:701fb3e9-588f-4727-91e4-ec5bd5e32bbe phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6664fc2a-3929-4a88-a013-02d50e3bf84d phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bf9b2c02-803e-4a7d-99b2-32685d247221 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e11b208-111c-4486-a23d-0a9dd647e2f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5da508df-155b-4263-a0c7-ac8ae09c716d phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2bd4c4e8-b151-4692-9b44-7a208d597d81 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e45fa048-e444-44d8-9704-efa8059c3159 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:326850f4-cbb0-4fbe-a4b3-bac60881ba5a phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fd50ce0f-92b2-49c5-acb6-531454337f81 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1fa0ea2f-a012-4812-8be6-f22f9784c3e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:10130fd1-fe14-4bbf-b253-2e857e191df1 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec186dde-612b-4989-a699-d021af12d04d phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90c4af3e-f144-470a-a0f5-30880e201964 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:981fdf2a-c016-4b2f-8081-441e49cdcfdd phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6c20d76-4802-448b-ad18-c230d7bc20e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ddcb1ce0-fb59-44cb-8cfa-47ec78df4373 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:176cb0c5-ba7f-4103-861b-0c0019188784 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c96f4ce-3440-4c57-87fd-30f9f1363902 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a944da20-928a-4379-bf24-8b68bdae2e5f phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:60323dd8-92a0-4297-a868-7cec4545d6a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5ed6ff2b-938a-4c39-ad46-0c5f01e516fa phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cef9dcbd-bbe8-47ba-b121-ae9a38bea18e phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b5981498-d94c-47ec-8f6e-7ec63b0b0ac2 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:585317ac-a2a5-4de5-84e6-414bd31484e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:91a16545-a410-4685-a73e-7442a490875a phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5a6e39f-97ed-4783-bf51-3226af4486d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f185aba9-4df8-4c57-a5d4-caee7d9dae34 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:144e65ac-63d2-47b7-864d-a7a8ce6a200f phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d3d65b9-356a-4079-90b5-f38ded451778 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8bac372-57d3-46f1-8b94-3ccb36c35dd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ccecd188-f5f7-4853-a71d-2fddbf62ba5c phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:98fd55aa-8259-4ba6-80ee-5aef36eb5e86 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c27d00ce-3627-4361-b6f5-2371badd2bfa phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb347ac5-d0e9-436d-88ec-bbfa27f3a51b phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:328b42ab-ead1-4d74-9c21-8adb67672260 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f949d99-3c3c-45c9-91cf-5b45967b7fce phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fef14b88-18ea-4b94-af63-c4177c89fded phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23448fbb-94af-4761-b597-cec237e63637 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:980bcbb7-affe-4aef-9fce-dd148edc9a2a phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3cd439b2-d6db-4b5b-bd71-74729d150bad phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5c1b42a-fc1d-470d-a9a8-a77ace75fe33 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a3c0d918-6f1e-4a85-b99f-eae75cc9fa9f phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b877cb60-41f7-4bde-8aa6-90a40b3a47e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b1b7958-dcb1-4058-b7f7-231a5d8dde91 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ae6f8d9b-cd0f-436a-9c50-9f83d8d97036 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:e62283e6-d612-4164-9b4f-b3eeb6ede932 phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:7d83ff2d-bdb1-4823-99a9-673b559c99cd phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:40478ceb-2d67-45b7-9830-c91605f19612 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8117463d-446a-440f-a994-3af286848dae phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2eedc8c7-d8bc-4857-aab3-21455e2c5fbf phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d5c3d7e8-ab36-495d-81c2-41aa002dca24 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6edf1fa0-8ef6-4129-933d-69b68afb74aa phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aafb4c66-39b5-47d5-8661-fccc1d3271ec phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9010ee8a-c052-48f8-b483-204f308b1c3a phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a3902d04-bb14-4943-84b9-c5168d920247 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9e0967ea-dd8e-4e02-bfbb-09af543ba2ba phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:03f03a35-5af3-48ef-9552-67f737cda192 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2afc462b-fa8d-4627-92ca-9ee1f15f5dc3 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f79ddde8-e41d-4778-aeb7-46e4104c2692 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b6fe181d-0eab-4e7f-a980-2e36bb572a0f phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3395efd2-6aeb-469b-8093-aacd5f5d65fb phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:018f2775-a236-4433-ae50-002f76ab5db2 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bdf30363-862e-468c-87ad-a32406166308 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ea70a79-2d58-4d0a-aa63-d4ee9860c419 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5f1247eb-516e-4de0-be79-023243030254 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75550ec4-e462-4f1f-a557-78af092cafe6 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f0555ca-d5b3-40cf-abc8-3b138b0a9437 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dbfc4105-8263-4dc9-a50e-1a3e507312c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2afb1819-3479-464f-ad61-7c6e769b3e0f phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:54a08734-526e-4f0f-9d3e-32f9d1e4d166 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7532dcb4-a28b-4f3b-a406-58d228feea3a phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b8b03af8-465c-452e-b993-daddb316f34b phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:42048644-0576-407e-a26a-9c082a278ee6 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b007dcd-7629-4f44-bd5e-e5b0f67d7113 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aba0a892-c4f7-48c2-a771-f35c9a41af7d phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b18c96f7-d2e9-4ef7-b318-c9e5700852a5 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ded7182e-f2f4-4b76-b146-225b21d65b8f phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:532ad7df-fcf8-4005-9160-2ba43aaf70ff phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c28761c0-8822-4530-a364-b4f57ec37499 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:235c1999-7d23-4f44-a1f4-3ce8ecdeea8e phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef212c8d-9858-4361-805a-ce0768803b11 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57814db9-6c3b-4797-ae5f-15fa17b76c93 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a58b3cf-43ef-48a5-92ab-97318ad4fbc8 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0841befd-f7ed-4081-b797-5f7a5c99530e phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:50dbfa96-e10c-4cfa-856e-2e28dcef4ff7 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:03021a64-87bd-4722-adb8-f9247f2eb2f7 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4522fb01-7b97-46bd-b022-d6e482938fe4 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bfabba63-bf6e-4c03-bfff-3f55b4e22ab2 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3804c2ca-df00-4b87-8620-5261a8385349 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b5835b1-0eb0-4cc3-ae3b-880550950381 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:592d52ce-5a12-444f-9d60-00d0f60d5a19 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:99c2d3ee-26d4-4360-8449-84bffde23d10 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2c01d50-2798-48ed-adf9-d27d8a33cdcc phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed050192-cd81-4805-8d6f-4c6cb74b001d phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ce04d97-3ad1-47b6-9eed-c037874d1b25 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:85f28aa1-6a23-4895-9e72-9022b0c96727 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a78ba90-ce20-4ee0-af10-f7dd0569bf1c phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d70bca2b-26bc-47a1-b521-af1a06fa71f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:827d537e-1bf0-43e4-ab56-d4bf5e5f9640 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d140c8e-4948-47be-8e46-79b4703f7cfb phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8fbefdb4-e709-4be3-9cdd-a7bec67afffd phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f257a57-7873-437a-a410-1ad70c4525bb phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1720d152-8a5f-401e-9ae9-ca49caad72dc phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1bf159cc-b8ac-4d09-aab0-bfcb177c98ee phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:530088e3-840e-4d91-a0f8-d7935a72ff94 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b41e3ca5-0742-4689-84bf-4d71aa60e916 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f6b3d11-4a9a-4976-8b12-da55ac1c31e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:daac2abd-c7b2-4fbc-88e7-8644f2aff790 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:afba5fbf-89e4-4506-837a-540b0b26a9aa phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1099efb-f1e4-4c38-ab3a-1116f82e6eea phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7128fbd3-8dd4-4d7b-b258-833c6287ee68 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5e275ec-2aca-4934-8c72-bad3da210c13 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1384764e-dc16-434d-81ae-f512fab4bb16 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4dd906d6-9c3c-4bd6-966e-d567f43acb94 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bc319506-4fa8-403b-9699-9e5af30f8bf3 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4bd432a6-966a-4938-8434-13813d56f04a phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad47fdba-a319-4ebb-84e3-d1bad72358e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:908a80bd-e003-4101-913c-34e686ff6c55 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c90d2d08-5d98-4d30-9feb-46a4ab5044fb phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c6d0b8e-9db0-48f1-866b-0dca908a6eae phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45b99f22-2eef-461b-8a93-5625bc86f1c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:de057ea6-2660-4c8d-ad50-56135c5a7564 phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:83411245-0a41-4496-9003-fd6c99be30df phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2ae1a578-2de0-4096-b39c-d22beec60a35 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8b5cfc8b-f5c3-4d4b-8349-66b0df9ef127 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:09608176-2c49-4bd0-8caf-3d14a2245a5b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d8b909b4-d6ee-486b-8fdf-59db32ca3162 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1674a85b-0c29-4752-b9b4-cba8b8ab5008 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2f42e860-6314-4a85-9231-4c148614c326 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:149dc21b-95fc-489b-9090-50d2fdab3e63 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b8d4356e-1321-496c-ae25-b2527eab5cdb phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f72691bf-5df3-49da-8f43-42bbb9d2fe5b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d03a231d-023f-46e9-9adc-3cbe1dd3ac5d phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:005a36ab-8d60-46c2-ae55-8d9c7daf3ac8 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0142ce27-bc6b-449a-893f-a584a7712236 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:488ccdf6-4337-4da0-9df4-670379424e5b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:79f9d750-95ec-4657-a83d-ccc073525fb5 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7e9dd537-fb50-4b44-baaf-4cceed6623b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:21d34d67-9fc3-415f-9851-207ff5dbcd8a phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3c44e3e5-e534-40e1-9be0-d213ca8fe48e phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fbc851ac-e37d-4b05-b7c9-06197a938815 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c9b2c6a1-a78c-4e6f-9c90-f81daefc04d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:524f948a-d286-4807-99a3-8d1ce0f23042 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c76facd5-9884-4b95-a140-aeeba1a8414b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5b7b7d9e-7843-493a-8116-2cc0e46d826b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:930c3e96-9ee4-4585-8a90-aa2ae89afb65 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7170d18f-955a-4d29-8c5b-9a9e4b5a1a0b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d969210-7446-4b15-953f-cfbea230e37c phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8153b070-d708-4d7a-991b-398b2a64d506 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f91d1e7-01aa-4fcb-97d0-a99713775c63 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bc00a5fe-69de-4cda-a9ba-198cb07853c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3fc0cd04-6518-409c-a711-a498edb34f44 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9ea3813-b407-4752-ad79-70459728d8cc phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c6dfaa9-a886-4c2e-9121-b9e46b295522 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3fce303f-32a4-419a-94c2-aadfc1f9d587 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bf9c6b35-28a3-47e4-93ed-9435e942289a phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d6ae6fd7-5979-45eb-a2f9-8ffe0d3b0b3b phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a501c694-5a6b-4baf-9726-24aedd0be086 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e086a15-3208-407d-8ffa-78d0f2b8129e phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:877fb931-da57-4973-b945-8907d2a62de0 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06064025-132c-47b6-b12c-3d9ea94db6c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:398de366-3d7d-4b0e-a5fa-9412e9eac53f phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:08328f79-6ee9-499a-ae31-e58667348348 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e696186f-d57d-4c4f-ba1d-86ef2594ae5c phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:80b00ba9-f28b-460e-89e6-7ea2a24de829 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca21869d-b689-4b61-abae-1fcc9d298f2d phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a501e879-5ea1-49f7-867c-34b50dd3c2bc phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c864e36d-ec2e-41ff-84ff-7d8d94f003eb phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1c90d04-f8b5-462a-9d3e-67e6b9ce916c phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1b58bc9-1375-479c-b89f-d0a47a6accbc phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84880bce-e78e-4a22-afcc-9206d9b199e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f54c5930-bd3b-44e1-8c87-a52995fbcad7 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a1a71c8-caf1-4817-bc74-4243517cc418 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f25b1ba4-dab6-4336-b491-c352db3e5cfa phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cca71afd-2e54-48cd-ab7e-1f3bc36afea4 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ffc1d9f8-2016-48c4-89aa-13f7c2fd9740 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9405c8c-ab43-4045-be52-20c746472c68 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c14eed94-04ea-49af-b08f-22507bd4daf4 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:acc4bd71-5916-4268-a4d0-8cf13f44818f phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c1025c9-dc5d-45f2-a9f4-28da70c1ac42 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:459845a0-85c1-44a7-9d53-3a766e24b69c phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0461e72-c1e8-410e-8024-71a66195a6ab phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b77c3e4-8053-4ff6-a8f5-e1fdf8188551 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d587ff9-d36d-4bb4-bb08-0505bae7b541 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d53c6b2b-5d3c-48a9-8df5-21158bf81827 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ebcec9e8-b0c2-45d2-b2f8-b6ed2f310864 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac3bde5b-af4d-43c2-9eda-571ebb51e2d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87ac7be1-5898-4507-9fbc-1abb4f73a2bb phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:392b7cd5-02cc-43e3-a3bf-10eea4459eb9 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2a092e20-5ea9-4d2b-9420-190fad51c174 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:924b566a-d67e-4bd9-ae47-1eac8f865a56 phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:c2e791bf-5bfa-4bf0-bd63-9c000272fed4 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bd234119-e17d-4214-9611-da563ce7937b phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4af7ce90-a963-4c10-9485-9f788349b579 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ddee2770-fb28-43f4-8519-538656cc440d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6a06ee42-8121-4ece-9bb6-24f507520fb9 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d9e5890b-a1e2-41dd-b1da-77a3cbaa6a66 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a0202a2d-cf84-4de9-b965-e211f691492c phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:286fd637-9311-4e79-be89-ce690b30826f phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:31d3cbd7-4748-4f3f-90ba-67b1eab77133 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:22e73a45-a378-4c1c-98c7-70996b48e96d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8d4daf18-04f1-46ed-b898-c1f25a0dbf05 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0100876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bc2fb615-d262-4d2b-869e-f50b97577a73 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e82f1ce7-7f32-4940-8fd6-c4e0a6c600f0 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:34b776ba-753d-473d-8276-3b02d9ccd88f phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:75e293cd-ded5-4036-a175-5f62468bcab8 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fda8bd6d-71f0-44d2-bfea-b693fff52b5e phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dfba8871-587a-4aff-bfc3-cef31b916781 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bbcdac35-09e1-4b8c-ac72-ce0c59b91232 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:100a1da5-8fa2-42da-b329-bb3a00af7b4b phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a178d5e1-aec1-4c58-a4ad-b4e8b3831855 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eebc29ff-8289-4413-a035-4d7abd792f15 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce3ec722-411d-42d2-b015-38615060547f phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a7e09801-9529-4d5c-ab44-a89324104404 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:50072242-a511-4465-a91f-4978963c8932 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa2b51ad-0eaa-4ac8-ad0a-9f3de9a8fc4d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9ec32d0a-8f97-4bfb-aba4-7bdc9379bb02 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a63c3bd1-48e0-43b9-a721-764d11b1a75d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37788fc8-a297-4f0e-94be-bce975f2467f phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3bf95323-dc32-43c3-9001-d3ed5eb80801 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fc84a683-dbea-4e56-a478-ed5b05214893 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:16edd8af-3065-430b-9b0e-7bd3afe073af phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc2c4346-4313-4ac3-b75f-dd3b5d2e1723 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5816a85-469c-4394-8e81-a79cda3a0dd9 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e04aeb5f-2ec3-4662-9376-0263bc63fcda phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aab093ba-7f20-484b-9092-60a38f1497a1 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a43dcbdb-a9ad-4cfe-b74e-e5ca6bd297ba phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c02ef8eb-f739-4949-8736-7dff3ccdd0bb phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b3679ff7-c8c7-4098-b10d-6e3e04de069a phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66409f94-61c6-4224-b989-089b9517a14a phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cae20ee8-4a2a-4628-bea7-200eb02f458c phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ad5c08e-c1f1-4ee0-a6ec-6811dccff779 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a0c47c0-3489-45ab-a774-180d39442a4f phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84e73c1f-4e2b-4eb1-a1c0-23f87fd31ea8 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:afd9949a-02c9-4217-b53c-7be6f3ba6b96 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b6b5347c-9542-440f-b077-ef3a0d08b872 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:09cd0fe7-b962-4cd5-a635-0575d73dfed0 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bce33799-d4fd-4df1-aef1-3011de76c8d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e123de74-766a-4fbc-b82f-d6121a59395d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5abced76-eea1-405b-830e-25b715cb6939 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed24c371-bd69-449f-91ff-89d0214752dd phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33eb3ee3-7b94-4471-a45a-7830a97a781d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de7350d2-7447-4468-b484-9289d3d4b8c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7cc7f546-b512-4cd4-9ec2-78939c0b80d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c1730d7c-64d6-4d82-acaf-c537e57bc21b phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:56ab94f0-510b-47c5-8e92-9e355cea6b52 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c1e20c05-6b83-494b-b353-ecf10752a34f phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:791e654a-4b59-45c1-8223-3b97aac74509 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c3c60ad-027c-4748-8184-8de8d91171f0 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05b24010-9840-462b-8173-07a5aefd0be1 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:88df9759-2f86-4b3f-9538-7810d3f54b00 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:76d0f2f9-2c52-4c88-8c81-3e6f036eeb6b phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73e205be-e3a6-4c5c-ac4c-47dd3443ac7a phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5c875bc-7881-4753-a957-34270ccc0a3a phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:956ff3c6-c082-40b0-89ca-b3cd1a7a8856 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f3a267b-1f70-4b18-b2bd-d1cbfa59152a phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aebb1326-e81a-49a6-a8b4-623e4ca6386d phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b341e14-ebfc-4c46-a321-4ac74ddf0dfe phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a17853e6-1bb4-427c-8e70-303c529b5e3c phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b487f9d4-cab4-4c0d-9d1d-102eda666792 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ea419c2-a5a8-417c-87fc-53a213537d9c phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:00a67d0f-fb15-4a88-9585-7dd8f3a228c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:60e8e888-84a8-4f5a-8b9c-0cb16c48e711 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e6da221-fba9-4851-8ea6-1ee68a4b86ab phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c61a018-ec5d-4618-9e0e-104f6296bf9b phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cf5df616-c502-47bb-92c5-2f33acc772d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:41129bbb-445c-4453-8094-9b5e1290e235 phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:378a5711-57d0-4846-84f4-8fd97b3f344a phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b21ba155-44dd-4f40-8d30-17bf775cc8bb phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a39e84e9-2de2-4e7a-9a86-26f1f3cff79e phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ad5c7170-8e3b-49e6-a969-4e3eb47c9aee phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b0deefa9-6475-4d90-904d-7f23c7246a06 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0a41d299-7ddb-4086-b523-5c9024fb43b2 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3508be1b-a257-4de9-b7ad-14f7a553315e phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8adf3eef-537f-43d8-8705-ae65464c4e64 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:899eef5a-8edf-48a5-ae70-83e95cc1fe27 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73292e9c-4c0f-41b0-941c-ce258df5bb76 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aafebba6-e1a0-4de4-a5e6-901634b8630f phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d645af3-6f86-4a7e-a19b-bd8a5800ccb4 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8039692e-130e-41d2-b74f-bc0c1ae9b790 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb5a3f5e-3d52-497d-b772-0a0f43ab0e01 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6eba9beb-9046-411a-ab39-9b61cae42ae3 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1dd8a46c-8f14-4010-b0ee-0e5a1369b608 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d740f34f-e18f-472e-9bf9-1f29a1206c74 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:59578143-4536-4b8d-b35c-402119d10f36 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aba74468-37ba-420d-8d13-5d5e8c90d19e phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bb4144ed-6107-4bd1-93c3-e0ee23c82c15 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5937b6cb-0d2d-4082-8103-3a91097a2c4b phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4548d688-0751-4b92-b38c-6071069cf19b phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4c27d75f-3931-42a0-a883-5f060148ce8a phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f94ea3cd-be17-4f68-bd98-c20a97fea32e phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec2e60a9-6119-4d5e-b5dd-bf89ea4cf1db phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:94fad358-dba9-4484-8732-41adfb467869 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b56245bd-400b-4c43-a205-9ec1e69cdeed phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad652815-4095-4f63-b94e-d90851dc92ee phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b4862e9-a09f-4064-a907-be09227e6a53 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e8353e6-1bed-4ac7-8a17-31772f0e1899 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d310a92-0055-46b3-96db-294a4f490a24 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca0d6c2e-1046-470b-8a90-fe1b820c4b55 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2acfe23c-d99d-48e0-81d6-46b60d6e0fb8 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c1b6ba76-62d9-4336-ae21-62fee7807a13 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:257e1c15-338f-4155-be93-f323db2fce02 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f9d30b85-7851-4994-b2b8-f223eec329ce phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cb55de82-9842-4025-ab65-6fcf9be0ce9f phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f3745b77-0082-4ff1-89ce-b3a63b01613a phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a017bfb-f74a-4f03-a816-3352a6191457 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c61c7b03-655c-4bd9-a734-40a7b88f5e7b phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a2096f8a-2f65-4eb6-af36-09f6d957823e phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f3ad1e2-c017-4a9d-aba1-fff9cf16b278 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:516a282e-f647-4354-8588-64627d1d438c phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b10fd6c-27cc-4b28-b61d-1215982ae5cc phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0b4df849-38cd-4421-89ab-8d331387e7ec phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7514a96-de56-47fe-8c64-ffc05ee13cf6 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6bf8821c-d89f-4092-ae47-b124c1c1a152 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5e556de-9ab4-4be0-b2d5-2f474df43c59 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:63016b27-4a0e-40d8-9fc7-5be10babcc7d phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f46cb42e-3c63-41e5-9781-f86eac021e15 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e566daf-48c1-4dfd-92f9-6a050e1147c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73da4598-27b0-4933-9eb6-7edda420d80a phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d808f096-2f16-433b-8d0e-e6c17e0d4b4f phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:852788ac-f0b4-4d9d-aa1c-78b3f2e96ffe phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9cf1973-9911-4f62-b856-143b5c85551a phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d618c855-792e-40d2-aab1-076e2a554d8c phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c4b52c3-19d2-4ffa-be23-b04cd0fe77ce phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a8bad57-417f-4334-a6d4-acfcaac11fad phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:91ad69ed-4211-4ab1-b439-f189268c3976 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca559e51-0125-429c-a850-562fdfdd2ad9 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa381565-a185-4b1d-b02f-7c2de2114e23 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5251eb2-023f-4a60-8ed3-d3c2dc050545 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93216b72-3ff4-4990-b394-813ca98cc07f phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2f9954c-a528-4c22-b1c1-de3f6ece35af phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f09f32e7-97b0-459d-8af6-ee83c36b2ea4 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f860ed6-e86c-4bd8-b5c0-d5b0479864f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:ef018e43-34b0-477f-82f9-4ee224556fc6 phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:854ffb4a-48c6-4b9b-a79d-42de1edaa4ff phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a609b18e-2f59-4c7f-9ba0-25cc60773b87 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0ae292ae-ef42-4be4-b183-f6318db8742c phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ff5e4806-ec74-424c-91e4-9ef915540ab3 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3d59db62-620f-421d-89a7-ac9e245f5530 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:883b6a13-c638-45fd-9ed2-ca6892dcaf0c phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b8fb5003-2592-4332-ae08-80e91eee3f6e phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:06232a1f-642d-40b1-9b1e-3a2e8578caa0 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fff024e1-79a4-482e-990d-f3b4a7e5d642 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2aee0fc8-d3d1-4249-b539-2dc38e1c750c phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36a06657-404b-475e-b78d-24d5cd0ddb8b phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a54210c0-951b-4b42-9d5c-987f3843379b phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:13757204-f727-4213-a13a-06401ea04f05 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa57a6f2-ce9d-493a-81a6-0f9977db0b55 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e08af4f-4198-4f40-bd1b-1f1ecc4db7fd phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7b4c5ea9-6628-4d3a-b33f-285b99c734dd phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ebeeb48-d067-466f-b226-0b63e58c0971 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:97d8b256-c908-4d20-99cf-971db70fb6d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fae62477-86f9-4557-a7dc-2c1fdac09f92 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce9e5241-7bcb-4df6-8869-8380eeb91091 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c4c26553-c279-4d07-89da-dbb34eb2a799 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:943051a9-817d-4450-b8e6-ccdbbcb4eb0a phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d233bcd4-5c85-4883-a772-669f10c6fdba phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:721ce29b-c071-4844-98da-4364c879e4db phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1cac7752-b366-4f63-87bc-d5dea2c14451 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fafe1eba-5b43-4f09-a737-7a1207a8667b phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac360244-e215-442a-aa69-af28a4539409 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b3a22b9b-b8c3-45d6-bdd1-4b1bc349b04b phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a06c6f19-3fca-4bff-bc20-ea51afe46005 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:02c36c0f-3b69-4729-a589-520b629d8eac phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad2e9e32-f0b6-4952-b68f-be453fddc443 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dd489bf0-460f-46b9-bc6f-d0668e8a708a phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:509f6da1-fcfe-415b-a8b7-1819dbd41992 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:921d5ad5-ed29-4b8f-bd29-f472bfc90e9d phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c519196-17d7-482e-90f4-c8e9b291dbb0 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1644714-e23c-44d6-b057-1ddf1516c91c phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5d330d5d-2d95-4575-bea3-64da2c867a3b phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b32ccf68-be37-46b6-a190-c169c4445ca1 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0de810ef-bbad-4093-b7e3-b6f746a967cc phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8ac2461-4d1b-4bf2-a644-8ad6b650a80d phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b0181823-9123-4d59-a35e-a52c18872c1c phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90cf2ccd-bc00-42a8-bc6d-9fc50188eb6f phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4bd08b74-6e0e-4e0b-9fc6-07e9699b5732 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:afdf164d-16c6-4db0-b6c9-fc923597e6d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66ae6ce5-368c-4e27-bc7c-190879058870 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d15ae0c-b71f-46bf-9e2e-3f913af2e17e phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e402f5b-16aa-4781-be0b-74ac339a274f phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec694fde-f423-47e9-afd2-0deea2d96465 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c44ea05b-d75c-4026-85e1-3efc70ab3632 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:85077381-9ff7-4db8-87ab-2105aae77649 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e459b15-d488-4d83-928f-ab0ebb4dcb7b phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d53504a2-540a-4373-bd21-d16563b0ee5f phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06bb6b2e-64ab-4057-986d-1edc11501e68 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:289c077c-ef3e-4d33-8f5a-e5654ade9052 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95e7af77-f29b-4f8a-a476-7bdabb0b03ad phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4366ea61-5947-4de7-a18e-23e82f5bd316 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1cea11a3-d16f-4ed8-bf36-8102bc9ad6c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8933d39f-bdb0-458d-9054-73e1a4f9f364 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7337fc68-2f49-4cb7-98ba-a28eda598c49 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9553415f-1f0c-465f-a51d-7815388881e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:099b0393-277e-406f-9d08-aa7b5c07830a phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a61a2d8a-2c7e-4f6c-b094-5422394275e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0438d4ce-511c-44d2-87fe-45b5b83481e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f429c5d7-a7fe-4f91-855c-042f902a3071 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ba573943-e3cf-4219-8091-ea855335c9d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6815a9f2-30bf-4518-87d1-a04e7a34b93f phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:68ecb098-e8be-4ae5-bf1a-6b7333c0de54 phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:0726ea3d-6831-47a1-b625-413e9bdb92be phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fe959548-5c2e-4031-9001-3f1edca25663 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a60818c5-ee3a-4c4b-aad7-2c5f2884e9f0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:396989ec-c177-45eb-a913-f63ace6fd6b1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aba3d712-3398-400a-87a0-86d79f36f301 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e63f4cac-c2ee-4493-abcd-8139b4256724 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b933284c-92d1-422c-a7db-598501b32469 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4b319e38-5a90-4d70-b62a-818260fd2ca2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95b0e9c9-561b-42ba-985c-243f3e44c96f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee4f3e1e-96d7-4e11-9d53-803d1771ee2e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad9a0094-d198-440c-8d8d-dd88d3d28fc3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fe4a4ecb-39a8-4f6e-a3e3-f756933cbee5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9dc3637e-38f0-4154-85b5-91d7028f8030 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5e9dcab-dd0d-4648-be74-d109cb9b65d8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f3b6de24-bd81-4418-a15c-0ba277fa22d7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef813c5c-0e15-418d-a896-7e4e8db06646 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0a390b8-3127-4c73-b070-b6371f0a21ac phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed74bb0d-1be4-44d7-8eda-baefee9d9645 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c875f561-e22e-4e72-a20d-32b3207959d3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e1ab3230-c7c9-487c-91c6-6d047de8fec4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d40825c-018f-414a-af87-b4da0d133334 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45614157-6823-4c8e-a0d9-983bc42fa6ac phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4cfb6885-912a-40be-9457-b22357d50872 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2e25857-bb15-445b-963e-144315ffe2ed phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:764c4a30-d9a6-441e-b1d8-7c614d0fedb0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e1a6d4f-2ad6-4adf-81a2-8c4420d0415c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:00d6cc3d-06a0-44d5-81ac-99926c86561c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0cb40244-2c07-4aa0-a7c3-2507cc9a86bf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:04ee05eb-4473-437c-bd74-fe72dd3732b1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7209023-f81b-43a9-bd15-69dff4540e40 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e49d1b39-b78a-466e-a2dc-e309dfa87503 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5f89f2a4-4be1-4b5c-ad0b-5109ad9f9020 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9a73053-4bf1-4e86-9bd5-637d25b70f91 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c1d077a-f6b9-4c07-b512-6b61cc0b3970 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a378fa0-07f1-4461-aa7d-6eb1f34ef3ea phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6faf6ef4-ed0d-4a8d-aabe-a27910e5c7ff phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:728195a0-e372-4e55-94de-2374edb472ee phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c0b62b2-cec3-4999-a5c8-ecf17092d805 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2c147cb9-524a-4380-87ae-caa3116b293e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d2c9ac5-f146-4e3e-a935-139fc768ab4a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f8dc5bdc-84b6-4c20-b1a3-581c3f7c46b9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a2a8ce4-4c7b-411e-95a3-1efffc8d56f1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c36a6c20-ab86-4cc7-b631-893c46bcd698 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bcd14eb9-54a8-47e6-a516-d8ca2d049c94 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3fecba20-917b-4d34-b5b3-ca09d1286f6a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0ca3fcb-30fb-4d62-b416-3a92ea510469 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f8fbeb2-a917-41e1-8a0d-0c5dbf1e2eb5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b5bd247b-3aca-4106-8f56-a8994e8bc6e4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7bd71299-0471-4ee0-ad63-9c6566972929 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:883260eb-b7aa-44c0-be76-bfafa0355229 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f04c1a0d-5f32-4abe-8ff1-c7468c637877 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1d8e869-ab9b-430b-98a8-9bc9dc9d845e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05f8e4c5-762c-4e16-99f1-dd1ecf408ea8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:bcd1a711-13f2-4130-ae08-1aa32a9f503c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:c80619c8-4ca7-4c32-94bd-960748453c08 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eccefb7e-faf9-4610-802a-1b795947562a phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f71275b-ab93-4be0-8da6-608cdc405827 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e5261c98-9b26-40c4-85cd-2ea8aaba1223 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f44e53b4-e764-4924-afda-132b20690ca4 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:593d7c56-dc1b-45e2-83ee-939911a66f25 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f5fc6af-fad6-48a2-a680-cf06755df257 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:f47a8162-13c7-4e07-8551-54602dcd6486 phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:94d91754-1ac6-46e1-ab8a-335f2b801965 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7b9b2d1e-f6f1-4900-b71b-0c863f594b14 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e52b67bc-558a-4caf-8a42-107a0bfa3780 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0d2e0252-26d9-4a4d-8f60-3a2e0145a55d phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0819d4d9-6a22-4c4c-8dba-5694ef2d6031 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0951238f-3d16-4b31-a322-3547059334a2 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a5900085-b85c-4ab5-b07b-8de339dd9c83 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:413bf97d-0cd5-46db-ac44-8fbb4b8848ba phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20528ddd-4b3e-440c-beac-9b5b1a9d0b1f phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:81b98c85-510c-4769-bf94-602ef40d3aa2 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f9ad0d0-bfd8-4e9e-a31f-c04240d5808b phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:370c121c-7533-46b2-8d6f-0321e63c4c5e phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01f47982-6b09-4a0f-955e-144d9e9d2432 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a168d823-40a3-4c28-8d4b-d9624fea6fa7 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e63a8449-49f8-4183-8d10-1a5ee35aa060 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:438f35c5-7238-41a2-b964-797d084497d9 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f91ec4ab-4a3e-4dc6-b464-74c94aba8387 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aac2c25d-80d7-48a8-ae28-9ebdc0c1b603 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a29a210d-c2ef-4b02-b3e7-683d96b424ba phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5a31ae29-04b4-40ce-9f55-27534c56b934 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:223a617b-97d1-4f07-9a5c-03819d186269 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4e740375-2be1-4c09-86b9-327dbaaaca90 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e2a63ab-4ce5-46d2-9252-cd94ef6be103 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d52708f1-db98-4b39-837e-8d62eeb58553 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69094fa1-d4c0-4866-8930-dc0c2eb7b398 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a9f042b-96f1-44ab-8a56-43ccfed23f99 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9094ffc4-7bdd-41cd-98c2-80d8df4b369e phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2c115801-39f7-4e71-9dd2-6f5c72044694 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d508b54e-380b-40d8-bf43-bfd3cb5d973a phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b12af94-c842-4e67-ac9a-97abb008225f phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:43c3e199-09bf-464b-80eb-abfa6659ad42 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ede2f314-3ba8-4eeb-b148-ec3626f27f16 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e80f60a1-f8ac-4cff-930c-202f10598107 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49c6c9b1-3897-469d-afbc-bf3d58f3daab phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1140aad0-7f36-4330-b5e2-a4a008280a66 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f3b090c0-dcd1-4831-9ff0-52ebdfdd276a phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:27ab8d67-9550-409c-a065-01aeca4ca362 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06c5d841-0bb4-4456-926a-0d3ce675a366 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ae84815-8090-4a66-afcc-136085b774b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ca432d4-5478-48ca-a743-c2ff9d52ec74 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:555d88fe-0ad1-4523-b314-e87c41591f19 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d13f1816-bcc1-4f96-af0b-ae9c4d205414 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31c1718f-ab3c-4a27-9912-669b03b2fa18 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5569f4a-66d6-41d2-9fe1-763c07a10243 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d6a427e9-9e39-469e-88c4-dcdf9be6bbaa phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a491138d-2466-4e05-952e-b7ef43c1e50e phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f4aa744-6cc4-4ba3-ab71-ff23788272e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e9eaeba-82dd-4925-80e7-277cf0b706b1 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee9724e7-e439-4e81-bbbf-9668ec0e4c8b phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:885a86cc-cfa8-46cf-8fb0-b7dad2b99aa5 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b279ae1b-2c6e-468c-bbb8-a31bfd986712 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0b8a7034-d2e3-46d9-936b-ff4cf0c67724 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a73ab5c1-1358-4155-b547-167f17acb4e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc8141da-0b52-4eb0-8fe2-cb53b652e1f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee1c9882-270a-4cce-8406-453b99b7d436 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f498853-5799-4899-a582-7d34af2b57d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a6f2bfc-8ba6-437d-83ec-45635884551c phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4dcb956b-6239-4e3f-b7ca-1a37186da44e phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:54697211-4c53-4d59-ba40-c2337128465a phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed685525-c7a6-49d4-a713-cb0230a486ab phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95c532a5-03f9-494a-9351-0abaae5d6924 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7801c81-78cc-48bf-95e2-44578dd1fb99 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad75160a-55e9-49e7-aea3-08eef8447edb phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4bcec206-f538-436e-9cd2-937cd8ec7e0d phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:52804928-5e6e-468c-8527-6ca8e1ddf1af phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:22d70aac-3b39-4484-9081-fc7f7444b94a phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01806acf-d37c-4624-8a7c-8880490d9f58 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6868f105-c89f-43ba-8b1a-eb09a37e3b05 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:50d3298f-cd49-4c93-b19e-b120ab6c5b6f phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4d51bf9d-0f65-485e-83d9-a1b32af95481 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f08ee845-c20c-466e-a368-91fa46eae002 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a1d993bd-7494-4498-a95f-a6f6c4224346 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:89f51389-f37d-43c2-ad83-0066183a751a phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:612e37d5-f3c4-4acd-bcdd-a296ee159be4 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3c589bef-d99d-4c82-914a-71a84f177494 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5eeccad5-0a59-4826-92d2-f809a1c9c990 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:545047d2-a0fc-429d-a491-481a53b17673 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8c477e7e-6a5e-4aa9-a282-73db3996de63 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a3b0d54-509f-4cf3-a2a3-20a49c3be1ad phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2452bab3-5b6c-432a-9998-aad3fa894318 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c558f02d-6ea1-494f-ba63-6f9c01e9138a phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bb3a190d-3b80-4509-a200-045af5a1e78b phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95311d6f-a41f-4909-9452-496118b4e353 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:79bfee4d-0889-4bfb-a256-c2f5b59a5ce4 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bce34800-6641-42be-94e0-e5c8e4fd36e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dce0dd8c-5c18-42fc-a98c-ff0ff5f5d6e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0fcfdc53-2cb8-4f29-994a-d59b2adc77ee phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0eb6fc1c-0b39-4deb-addc-360fd3799204 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee0cac72-9936-44e3-80c9-e80c3e78ea03 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3df09b75-c40d-44ad-bdce-43462f24c17c phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:692e7d6f-5ee8-456e-b7f3-5548db6907bd phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:142e2582-d7d8-43a6-a729-7703d9b04ae4 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:479a0023-1fa2-4bfb-beef-ea0f62f4ec93 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:26178cf1-cb4e-41cc-a9a8-9f12ae1afce7 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ed08f7f-af4c-4550-9b03-e772e01aca09 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c30634a0-dbc0-4397-9765-ab5bd37de7f1 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de90bcff-114b-4740-967a-86f80089fd72 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dd3b71a3-14f0-424a-babb-7b9063ea59c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f470cf8c-28ea-494b-8bac-66e09c84176d phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36a51c55-9ac2-4dd5-8989-48c9e693ee07 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8627df51-d1a7-455d-90a5-a8172c11acd6 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90290a21-e4a0-4253-873c-4255a3932609 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c55ebd6e-1274-4d5d-9ec2-7d9be53f919f phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f5cfed2-91fe-4281-940c-04ef2ba5302c phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90074e3f-a6f5-4ec6-beab-222168c6b3b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee246912-e950-4481-bfa3-f709a0c2c5d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0b5bf8e-cb4e-4866-9674-86e9844b33d8 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5880fb7b-6fd4-4b04-bf6e-fe8bbb7d6806 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:586dd0e1-5dc1-4722-ba7a-51afecdd8000 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:577c216e-711e-4eb4-86c5-09b18e555247 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b58f045d-4799-4496-be33-1a03a152a624 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d369d152-0ffa-4730-8836-40be5cd4568b phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1400f576-9c97-4642-a043-6aa5ccd52225 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:840fd4ab-ab6b-4523-9266-f0cd338f8afd phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:661b899d-bb91-44a9-9b49-9cf43c9868a5 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db9adcdf-9e33-4418-b494-5f76c93cd65a phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f71c34e-52df-4343-8172-0106b68b0017 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3f34b25-99a1-4ba8-89f5-cc71d881cf22 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:08a5024e-bd29-4408-a839-d35c84b85546 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2bdfcef-0130-4c9d-b7ba-0a578fb39fa3 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9013885e-7891-4073-b1bd-0778bc09f0bf phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c38b8e2-1aa7-4848-922f-bbfd9541c084 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14cbac6e-1da6-4513-82aa-d65ee3b47de2 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9bd6de81-dd06-4c78-9e9d-403d168c5450 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e62f5928-160d-4578-be30-d9fff46aacd9 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5e105e0-63b2-4950-8bc5-aa4643ff1fdb phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:21e2077b-ae7d-4740-922b-c13605bfa02b phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3cf5e6be-bf44-48f7-8d20-dba347adfb79 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f8a95ab-362f-4120-a33c-f1b52ec37c9b phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a4fe9b0-dfdc-4cff-99ec-32654dd9af77 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35f57f1c-06c6-44df-a658-c3068e61b037 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a6a5b6b-4f57-46d3-8322-6875a96a0082 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:08e2526f-ee43-4cfe-8e03-a2a3170341b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6dc9033e-3748-4454-8b60-67551c188908 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:610deeb2-b668-4738-884b-d7ba7362d280 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:251c5585-9d08-4634-a691-40d85f6722fe phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:486338cb-fcbb-43f9-8c08-78911b4a197f phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20067609-6185-4712-b453-9bc37b3d9dfd phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:97372d66-eb94-4322-8f54-247f02107775 phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:da7d7d4e-b97f-47ee-9e76-9b6de99c1360 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2916cd96-e391-44f8-861c-90ee8249691e phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b002bd8e-f0b8-4c52-93d8-68c1cf5e8205 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f26f007b-9ec7-4518-9bcd-e3048935deb8 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7a88a87c-b72e-4328-a3e2-8050793fda85 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7e23c635-73b8-42f2-a6ce-434ce5c7f74f phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9a60fc6b-3d56-47c6-a471-d3cbf843731b phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8492a701-3e9b-460e-b300-5e588276e0ac phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1c21db51-b313-4e4d-83d3-dd5e71a2a2ef phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5195d8e0-f48a-4cb3-9a00-9bef6f32d31d phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ca216940-4b8a-4a71-bc5c-95ceaa2cd36e phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:01cd8c3c-d680-46da-96ad-2dcfe67e016d phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1a885bc8-a2b4-49e3-8aac-a36298bba679 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9ba2bfe0-ada6-40bc-9cf9-f07aea79cfb9 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4e31423e-db3a-403b-a487-f4256a75b8d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f65ded68-f6e6-4538-83a5-8dda02e133ba phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b4606aec-ab58-4c14-aad3-3ff277adcfc0 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b39c59e-c2da-434c-a450-2f237e3154cc phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0dd95af3-bbba-47d4-a0aa-df572790eb25 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:50fb8c46-924c-4b5b-98ea-c394e4a765d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f03a40de-6948-43df-8b8d-72224c843709 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e3c729a1-52b3-4adf-a59f-383f42862927 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31e9778f-bc98-437f-bd54-18549ea4d3f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f516531-3b5d-4122-b137-67ab207f62ba phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:44f2ca3b-2e91-4ec7-a6e4-f9465b3c8e0d phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:296787b6-52c8-4646-9e0b-ee4f5313ac02 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75a895a2-a52c-49c6-a9cd-1ce052af4219 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f8019db7-f895-4484-a79f-5795687b1966 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ca19832-76fb-438f-b27e-e96a54501cad phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca81b5b0-a370-4273-972f-b337a2ac9579 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3798df00-2c38-49ab-8f49-af6cc1b9602c phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f3f3bdd6-aed2-46ea-ba07-90ef6489671d phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a9490aa4-c72f-4a4c-8276-1324fa6bb241 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b6d60817-3417-461c-bc63-9cb74393bb97 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:714df4c6-d5b5-451c-8a2a-6b34a1c38b42 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:43ed08b7-1f9a-4ee2-a92e-da41e7f66d9b phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de1432f8-558d-40af-b74b-885c0e4ecab6 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4cabe60d-fd1a-4f35-9519-df618471bca4 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f66e8f07-e80b-4fd5-b536-7a220aceba14 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c877970b-b408-475d-8262-ada77ea9be90 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca0b5ac5-69e0-4890-91ec-472565a73607 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4ab6ab77-5c3f-42f8-af9b-c9e9958f64ad phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:312fd705-d89d-49b8-beff-3deeb4e5275b phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c13b1313-de98-48ee-a3ce-a6ca0f7380af phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:672139b9-e15f-4038-afc4-4c3957b21c2b phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a082c376-b96f-401b-a39c-b429696d3bd3 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dfc0eca1-8189-4b35-92af-abec87d56ec8 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9284b675-2409-4594-ad0e-2f86e30cb913 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8349b171-b375-4090-84bf-8f02f54964c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e6da562-a6b8-4974-9924-fb9a10064537 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9407840-a543-4034-adfb-561b9a84582c phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b10c004-1892-4490-9ad6-0d597e3818e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:392f0bc2-343c-4577-992b-17094ac81b08 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac4c9fce-e565-48ae-8ad3-6968b496e77b phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:273c790e-4122-462b-aec0-34cbe8499c9e phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:481b4564-1401-4552-ad00-3337d806fee5 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0bea14b9-f761-4e68-aa32-58ce47e0d503 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bba715f4-029e-4f2b-b39f-0667125bef2c phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:22aa1ce5-23ab-4918-969b-2d4351f05d0c phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d95f76a4-01e2-4470-aa23-a54cf97153da phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f56c3d58-e02d-4c1f-bcc3-01d403ecea89 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e6af7e1-2ae4-4648-a94e-96d4ffa4141a phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:297c85ff-1e20-4a2a-8be4-4e82c5b80f18 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d18c898e-b7ca-4bec-be06-c054ef03f227 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:318aa2c2-210b-4061-9179-5cb3683a4ba4 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4366f347-b294-44b3-a60c-d3ea856f417e phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e9392cc-e159-4077-8806-4174770668b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b43d98c0-f872-4d43-93bb-6f9f06a10918 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55086143-83c4-4195-b3f3-5d29de55efcb phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1798e418-096c-43eb-ac70-30cf532c6919 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ba1802e-fb3d-4853-b09f-ef50072b9daf phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f2a077a-c7a7-4dc9-b40f-96711521f092 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:93f96731-edcb-4cbc-a479-f37b80403d11 phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:874fe223-ea8a-4d89-b193-b436ab24716d phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a2079ca2-8289-4f87-810d-7c5d56ce4ac2 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ca2c46a0-5cb7-4a37-bb81-0a65fd946dc0 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3af56b1e-2cdc-4574-9c39-af6e132b74e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d03badc7-4461-49c5-a30e-dd8f315d99f8 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b5b30f74-616f-4c68-be0c-41da75cd5482 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bf3a7752-5abd-42af-b691-0a5a94ca0489 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:72f803e9-c48e-4c8a-90ee-827321f1d4f0 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5a9bbdc8-7dcc-4e4b-92a6-787cf133b21c phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:02f55122-0536-4c4f-bef5-2d6629c33bfc phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4a99d85b-42ee-431e-be07-b064796b2ffb phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c0a5eab3-cd89-4b7c-bea3-59d95446cb0e phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:300eeaed-1779-40c5-8e9c-d575c33e96e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:46906baa-0331-4184-b09b-ada0fb288e48 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9b7bdc1-0791-4d58-bd5c-2ae4ba262188 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c0d80ec-a81e-43ec-a2cf-646077f9d3dd phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b46ab9b6-6a82-40f3-b776-b3c49a71faa8 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da0035ac-c077-4039-8fee-599449ad805b phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7db606b7-d967-45ed-837c-e0d040a367b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a963b73-6cb8-476c-a461-01a95351b1bd phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:133e36f2-d3f9-4aed-bea8-7d796f7280c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c7355b0-2fc6-4d31-9b64-295ae5d94e93 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d184ac2-f519-4e0d-8f6b-49a627373521 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01117ba1-81cd-473d-89c3-6e6b86762b05 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8297aaac-e955-4aa0-9f81-d2096078d6d8 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:79084d12-10df-4f50-8a64-e976a1e08492 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f125a629-1912-443f-ad67-334ded0f7742 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fcad8a26-3aff-4699-833e-9da020361322 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2fc82760-93ca-4483-afe6-a8f13e0bfc56 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ade95a51-a833-4590-87b8-b4c88ab2dec9 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ceefe16-28ac-4a61-baad-5b30c7f3bab7 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:63cc585d-bef8-48d0-b76a-3257e0cec950 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1032ebd0-53c7-4772-9e04-14555bbdddd3 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e9fcb46-8072-4f6c-b82d-7ce09b09ff48 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:876f6e28-cc2d-44a5-a824-55af490385bf phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c1332139-c93a-4d1f-9719-dd894675f44f phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7814d9cc-573d-4c01-9eb1-3e4a4abf26d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cbfd2eef-ff55-4bbf-b07d-9c0568fc7d1d phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:26c5b32b-9ab2-45c7-a24c-654573a3428b phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c776dbe-e4e8-4ff2-8e01-956ddc403be2 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:71e40767-a841-4183-8427-b5d4c38cb6b1 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:973db945-e803-4421-b057-4f5c4664054d phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2596fb74-54c4-42df-ae1e-db8aec18d597 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a3da1515-6b60-4158-9f7d-aa984a64d960 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e43b1abd-6f96-4c7b-a5d9-0cadc3e2b908 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31b5cdde-54a6-4cb2-a33e-5ec7e3ea709d phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:88f8b037-b6c9-4486-929b-96fcc5c8754a phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:39b917ad-cff9-48c8-96cd-eec2821a7a3d phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4a9c63d-0f10-4332-8014-b54f87977ad5 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fe50cce3-8e9e-4a61-a7e4-2f710ef496f2 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2559a2fe-d440-42c2-a644-d4f0ad574671 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d926be2-1507-486c-8f7e-7f6378d79314 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:070018e8-0834-4161-98b1-f3e1b28cbafc phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6deb8ad5-8350-49d8-897a-a78b3e6ccab9 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:996185be-78bd-4b60-9389-5203350a66c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:28aa49c5-dc3f-4f90-9d78-fc84cb2b642e phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b2c8912d-62f3-4535-b595-4488f50da5e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a177f39c-6af3-46ff-bdf1-a8040d7c43f7 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:50c75ee7-86fd-47f9-b4bd-b947aa478f8a phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4176c4a3-9a92-4d19-8cba-b023feae9e84 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8bd3fbba-1132-43c4-8ba6-492df0e2eda7 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1de9f61-96f0-4d36-b0ea-c27f1eceb92d phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:78b99bbc-4b3a-4229-aad7-2768f5f69d25 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d5b62f6-40e7-4890-9cc8-03b3b7c49fe8 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:d8978f15-b346-4241-81c9-86865b97c619 phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:5256936d-b1d8-4340-9699-094319e00cdc phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:80e8e72f-d171-4aae-99e5-78267e3591b4 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4687c0e3-d8f6-4d6e-907a-5829d9ef8dd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:02519f4c-1904-4ddd-8207-893089e90ac0 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7042f4ed-dc8d-4fe9-9ff3-17a2bbaba693 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4d4f4ff2-22d4-4dc4-96e6-fe73f0582eda phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b83cc557-1362-41b0-96aa-84aea08d1ee5 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7b01ccf1-9e40-4f78-b7fb-be717832a950 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c653e85f-7b11-478b-8895-0595eecfd93b phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8b1e5492-2fc2-4aa5-84a3-9ad62bd09541 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5b73fcb-50ce-4ff9-b634-aed69a742382 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9c7ea666-7a77-4f43-b5ac-358f377ea7db phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2906cdf4-3a07-4004-8f01-0e34323d00d0 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:006bc816-72a5-473f-a6b8-86108c92ab9a phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca7bb2d0-e7cc-4b7b-9808-e9f566f41983 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4f74f2e8-eaa5-41d5-9aa1-51c08c51728e phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32d3c176-c1c0-4b4e-a1dd-30644f5691ca phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7cb6c417-5873-41bd-801f-42ea257987dd phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5a152a25-ca8d-4b1b-8580-ca7014fceb9c phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:09b8983d-aec3-400b-a440-d738cfb65c72 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3694640b-212b-462c-beef-c5cb190b8da4 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:923feeac-303c-49e0-ba11-fe89ddfbc4fe phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0a221322-6d6b-4cc5-b362-d0f6623f14c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a923ce5f-bc1d-4a77-9645-e565cff66dc2 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0235ccd-e987-4eb1-a63f-a93b4b22f48a phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06f03b9c-c85b-49db-a4b3-77287fa54014 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f02338c-08be-46c7-989b-54f93e0b65a4 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e51421a7-c69d-4b4f-b54a-e7d31fff958e phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f54486b5-9ef4-48fc-8bab-ffb01ea91e78 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a4d9259f-43d8-4017-8d8d-bead2898eedf phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9436bb3f-fe87-4ab4-ab23-9c3b16631fa9 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5ce37494-2085-457a-b39f-beb63c985717 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:339c9ed4-3d75-46a3-8ebf-1b72b454b105 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b5fa027c-5a52-439a-9a7f-8a0508e13c12 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:91c5f95f-7395-424d-9f29-58ba3a99745f phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8e1de4e-c0d8-4717-8de8-47e8057dadb5 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:43385c3e-54bd-43f7-b5da-2206abba3ec6 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ae606df8-ecce-46b8-a064-8f2788f46cbf phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e28c98d-2274-41d6-a7a7-aa806e0cf583 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a94c3e6-a054-4ce0-bc08-f54f126e86e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:564ba145-8e78-42a1-ae63-3bc193a1cb35 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e240d88c-eb09-4b89-a79e-a7eff30c688e phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:662d2e6c-ed2d-4528-a1c9-35da204de749 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1940006c-b2e9-4b0c-b7a0-ebddf72dc6f8 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06a2d067-555a-45b0-8959-550b96e62510 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d16a249e-e7be-43f7-9863-09df7130a868 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:83e1d512-94eb-4faa-b549-8de44c3ebccd phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc107f98-bf20-4638-9830-5d136a6e17e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5eda661f-b44f-455d-b8cd-edc57aacbd4e phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a87857cc-b734-4940-a8a9-7a9e17f0c2b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:abb9c418-914c-4784-a08a-555e40ec8dd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8bd95ed4-812a-447d-9a0d-bf6574bf9632 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ebf7c32c-9752-40a9-9ab1-511cea576e34 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14b6217e-a6be-4b93-bcd6-1653574eb98d phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49c57259-7c29-46b0-a968-7ce8fab4f7ad phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1112fa28-98db-4d5c-af32-31fa8d5a64b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a398863d-dcbf-40de-8267-0d5df8406567 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:63c0b1fd-aa4a-4596-8dfa-237a8b660309 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90904487-00b9-49d4-aa27-68096c3f1b66 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc6ad9ac-84a7-4de3-99d8-e00510fac1e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5235bcec-31ff-40d9-b22d-4e4efef1c8bd phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:26306c95-f6fe-4db1-af54-742f3ab6b3d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fc81cf60-a3c0-404e-ad36-f87210e2f684 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ded86358-ae64-42a3-ab45-17edbf7a9ce6 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e95a6d13-ddbf-4ec8-beaf-7bdf67bff706 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4660b8a6-a511-44de-8ab0-66ee9de0c4c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45218029-48dc-4f95-af72-c072dee45907 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d24f14ea-fb17-40c8-85fe-c9077796cf22 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:47a91323-17f4-453a-8813-70fff07a08ae phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:97147a43-a686-4571-a63f-f49bb8cfefb2 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4b6a53ee-10da-44b0-8642-76714a2ccf09 phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aac78d73-5d0e-470d-ae69-b26a274ab56e phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:fd5f4138-eb2b-4ebb-8da5-5aaf20ab11ee phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:b2e15ce8-52f7-4a7f-bb26-b0c5e84741eb phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b61e96c3-5491-4481-b42a-6bcea17fce95 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:018cc6c3-248a-45aa-83cc-5e7cbdc868dd phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:eebd70d2-b33f-4a03-9002-fd4d8dffdec2 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b43d006e-2eae-48fc-9b59-403fef8f8f3e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a12248df-418b-4754-932d-a1ae5057f2be phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:921fc66d-4ea3-4ab1-87fd-916abd0e5d46 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:10233448-fd77-42fe-ba9c-9a4802f5ca29 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:59a267d9-6568-4c10-837c-cbfcafbc3179 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4707ee09-67ba-4a67-bed4-ce48b9b11a43 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5178cbf9-0300-4d91-ad11-eb9be13da252 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9e94a678-c14e-427b-bffb-64174715855a phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:16141b59-8601-4743-a58c-a7ec4976c6f5 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20ffe9d8-98a4-4609-bad1-733e982bb25b phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8418dc1-4ccb-453c-9ce1-a1375dbb6957 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:543728dc-05f2-4016-9622-1d13fc6d4c7e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:329ab756-eb94-4c04-af59-78f7e0216c89 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b6cc891-d38b-4491-85cf-1aa3b929ee76 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7eafde4-01f8-498a-a63f-95eff07efe3d phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bcf754ee-e61f-41e5-b2a8-467fa142a562 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0e891dc-90a7-44bd-8d85-12bf9e7725b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:621a9b8d-f72b-4e26-84b6-d281ed38eb4e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d261c087-da1b-4ab9-a0fa-d9cc708d606c phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8d715e5-bd08-46c4-9196-a436c9f38e15 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1e8424c-f12b-4050-bd16-5463bf91028b phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e45ecf63-e79f-4bdc-be80-da605da84bfe phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:74e38514-4200-4c40-933e-5ef5c2929456 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4862f565-c96c-4629-a692-d4ccc76af9fd phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cdabebad-1afe-4c66-b30f-02ebafa04638 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bfdf30b5-50c7-4f52-926b-8f367c7a796b phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b033038a-0c58-4e6b-aa6f-df8088c87d38 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1b7a8bc-ecac-4bff-96b8-09ffa2c13eca phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c658a66e-1ec9-4107-99ee-9cf563053333 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ffb0479-09c7-4233-8e35-f0bfba9b3c8b phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec172b23-2e10-4b07-a8c1-c176729a5979 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eecb1aa4-f99c-49e2-aad9-58969a160b3e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d67af142-c577-4501-8aa9-f1be3fc18190 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8edbb578-945d-4905-8d76-82db331830e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0475046d-4e46-4fda-8280-6abf97701d9d phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:824b0975-b93a-47b8-8731-f71fb1694c7a phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1c7188f2-670a-48e6-b3fd-e8afe4a52ff5 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5a36a2c2-4fe9-4f4b-9073-2373006a4166 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14bdd4fd-3600-4aac-ba5d-73f533589a80 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bad4f148-998b-4f74-9e04-5b88aa90e7f5 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73c0726a-6199-434e-ab91-b571ef7c2786 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66c24525-9528-4347-9cc1-f887ffeb939d phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49ee24f2-831a-44bf-b092-b8ac083e6639 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cbf0d1c8-ebd4-49d8-8945-6a16ea2e4993 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b0bb61b-da6b-4c83-9d1b-eadef0f631cf phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61bf483a-8b49-457a-be08-cb380751fc41 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:944ce590-b257-4f12-a042-20dc987bf9e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f46f05d8-8ae9-44a3-b2f3-a39629dd356e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7074b4c-0d2e-4945-b0be-f6d6459ab6a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee3896bc-ed2c-4932-a2f4-897108e44d3e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:189e6389-4263-47fe-80f2-afed2efee6ff phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e912e0f4-5cd2-41dd-b028-ad67c1887cd0 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:188ed5c1-196f-484f-a560-cdb295e93535 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95c909f0-47d8-4faf-b804-8f83dc7be6bd phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8898949-f15d-42d1-8109-d3d285bca78b phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee2dd89a-58fe-4c88-a75f-6e28ff47749f phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82cf1df8-6615-4a94-8096-cbe2582cd2d0 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f555c5c6-4876-4644-a04b-bc3f4fe21aa4 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c2fa361e-e272-495d-b1d3-1f318df7624b phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cd1cd097-b1de-4f62-85e3-7b0bf1b4ddbf phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9721c59d-d531-43b5-aa2f-ebcb78c3bccc phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73c3e58f-1de0-4953-a263-08035a7f6617 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07bb402e-a99c-4168-8472-af56dbc19e4a phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9bce12b2-1a98-4564-8d95-1871b3ca9335 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a90ca65-7fc5-4ea1-b210-ef62af993ed6 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9626df87-7272-4443-bcf6-87ac117fbe9f phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:528d154a-c53a-44ab-b38e-3b1bbacaa834 phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:49ec6e31-5234-4d0c-9123-334f0fa6cc8e phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:92fc692c-c976-4885-81d9-f2b0a1d253ed phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6baa38d4-72d3-468d-a907-a60ab1016c91 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9d7ff4b7-3945-4c41-a174-b9f4059048d5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c2819a20-5d0c-4956-8fd4-11defbc1e286 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f3b823a6-0257-4f8d-94da-5a7b8b4217d3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bd0b9670-52ba-45f6-9419-a50dcc500f44 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bebe0295-63c0-470f-a20c-20110e756078 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2fa1a878-b4ef-4c75-a623-25e56cf3459c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9c62d669-5a41-4da9-8e59-8fff3aee8ca6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e4867fb9-b8fb-4ab2-9a67-aa3f86e2651c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a3ec4ccf-8d16-40b9-acf9-6ff1240ca970 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:37e583e7-8f0c-4759-90a7-a841aee2933c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:78dc7f9b-e4f7-4d5d-ab8e-ec4b03792b18 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:05130db0-996c-4a8b-9b71-51125eecf9dd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4a39bdf7-848b-455f-924f-8bde8af62e10 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d46a6a2d-2102-4286-ab11-2e33ec183dc3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:86c1aa24-3c97-4fcd-923f-386ad9b665ae phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a9dca6c-43f5-4e80-b09c-65d1bdd8065a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84dd8bb7-373f-43dd-bae0-b41c8660a93e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:269149d7-5f47-4661-be55-ab29e59b1207 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de5f0879-3209-403d-871b-2ee523087e7a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5559d7ba-1292-4409-a027-341037cd6972 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f90059b-35bd-4be6-b7cf-5968e5450bdf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05e46c07-9a33-4bd1-ae2e-1e56ef23ca6b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:520ac765-cabb-4fb2-a2c5-8ce2d05cb314 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cfeaca1f-088f-4f23-981d-8a9a6bdf61fe phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9c1828bc-9f51-482c-b3c2-5710141a0eb6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:96e03317-973c-4102-97dc-af96be22a475 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2617be03-f09c-4ebc-a699-7e5ab662d76c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17ed8e4c-c4bf-40b0-bd92-fcfbf9bcd1f8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:27044cc5-359b-4216-96bd-b62c3413858c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9197cc80-b5a9-4d21-af06-44edeb095309 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:393ae9c2-227b-4301-acc5-54491e21e205 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c75d2ff-6f48-4f7e-9b3e-54a329a8e4be phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d19f7015-e72e-4b03-a1f1-a124cb7818e5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35071894-2e69-42cd-a466-a7d9e5a54f6f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1bfb78b-d572-4894-a08e-08190a772f2b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb2926a7-f312-4fb3-826d-6f75b484d820 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:147520d2-8a66-427f-a1c2-c6b0338d5df6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ebf01ed8-8f09-499d-bdf4-ede7e6cee5bd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:460d6ba8-c73a-424f-8ba9-dbb1cc06b68b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b8a9101b-e090-491c-ae1c-a744897ff243 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1286297-393d-4f8c-b666-8b81a5f8c075 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bb0defa7-e95e-4e0d-8983-404c052dcf1b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7cc25ab6-5a6a-453d-a6d0-945651c5221e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:64da4834-1607-418b-a77e-e488c77eb0f2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eaced676-9d28-4334-bf07-b4c9a5dce81b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18b63a75-3d67-462d-8d2f-52fa74eab739 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:fd2987b6-9bb6-4c4f-9af4-64986fa3f36b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:5907b66d-05f8-4544-a7b5-2a16ea0c76c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4e968bdb-2c1a-44ff-a3e5-3307b5f7435a phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b7f1797c-d4d6-43e7-a21c-7e59aaf27045 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c5608f9e-dd9d-45c7-ae56-498cc206dc20 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b35cafd7-74e1-4711-8cd5-155eb0f13ee6 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:54eac54f-1ecd-40c1-92fa-43c304cd9262 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:556624c7-f068-4708-918c-9f54352c1a22 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:26efb74c-4032-4346-aae7-80cf723015b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d270dff8-33da-4b23-883a-8353ee97266f phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5cf522cc-7e0a-480e-b990-797f47692837 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6da3feef-73cd-46b2-97c1-d33647bbb031 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:04e782ba-a597-499b-9f8d-6d34db7674d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2457de93-2583-4a81-937b-8a837b6c0ec4 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0ec678c4-db81-4a96-b0d7-4cc987965c21 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c94443f5-4410-460d-8027-6fc96a5c4dfb phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e6a1159c-49d0-4e8f-a974-a2c38074aa81 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:72090086-b846-4cc0-9b5d-f9d02d411dd5 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:53c4c2aa-088a-4e1f-90c3-abb13c17df3a phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5eef44b6-d4d8-406d-95d2-3fb21d77ff6f phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f0eaa33-deb4-48c6-9556-35d90e24694a phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ab42e793-e83c-4b95-8df6-b8f6f9e125d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:863662dc-2cda-4874-97d7-e391383afbbe phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e4ce411-dfdc-4254-abe8-96ed8a4eda57 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:581ea33a-f9bf-48b0-aff4-fe59e10f0b14 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a7125cc-b45a-4202-b13f-b7302a06ed66 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:458027fe-126c-4c2a-b1d9-4d09de4de061 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cdb8515d-985a-4460-8aea-782c6a960504 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4eb453d-2356-4e90-a1fc-07a8ad5e4559 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ab80a8e-9354-41e8-88a5-6a6e023dec9e phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:271ae53c-f2a7-4c5e-8529-788aabe25160 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4f8615d6-929c-4042-a069-bef2eb47ca09 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:af85f4d3-aed6-4a21-b40b-cd36ff0322fd phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b35f1db-f22d-4734-9ad2-aac2d561d2fc phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6450b9d6-17b3-4b97-a668-6261ebac8271 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1bb6ec2e-896f-42d5-8e31-bd2af6b770a5 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6831d7d0-bdcb-4faf-bb10-73f7586797fa phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:115aebb7-c21e-46fe-b365-3d406fd38911 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:343f5de0-6c0a-4332-ab50-e4f4735b520c phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:adc19a73-0a5a-4291-88d7-7a378e37d5c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:554f7048-cc28-4e7b-9099-eb9a051384c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7940f232-ad3c-46df-8d71-9b03f9254cc4 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b79bbcb8-8cd1-430f-8a46-48238f6e6977 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:80e1ea4d-68c3-46b0-af13-02fc983dff4c phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0571c8bd-33be-40f4-8cb0-e80d50608948 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d53fa2c-3785-420a-8295-507805d8da6c phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18ecefc0-77c6-4a58-820b-99adf8147900 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1c6658d3-5cb7-4570-be27-043c62e17f12 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1635c7fc-ed86-4d44-a6c5-6c06a6a84e34 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0cf0a0ee-c9a5-4ea4-b627-103a3e4c596c phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0038186-50da-4262-ba89-f9b0f254afb2 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1277d85c-83e5-4f33-9039-d6acb192286d phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:13cce3f0-5fb4-4a25-8ea3-1421156ead6d phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07cbb232-31fd-4ffc-8573-f342458b4129 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e680b808-55eb-4a68-b0f5-7121ee0d066f phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:410621e6-96ae-4b10-8989-44b7507b882f phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:679fa0a6-654d-45a5-9172-7c1ccde00642 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ea428a5-4350-42e0-91ed-ea3ea29d7b7d phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1d566a0-3160-4f0c-a095-7aa9aff8b102 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aba61dca-d4f9-40f3-9eb5-e4a1deb0932d phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ae599f3-9d8c-4386-9ec8-fb18ca296877 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6514af9f-019c-4b9a-b7cb-07412b705a90 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:687977c4-b67c-4206-9754-558cbb85f339 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:359383d0-98da-4e60-bfab-d5056aa0a8e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:675ec791-1b71-4db9-89ef-c5814eeb28ea phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4724ae3f-8da4-4f25-977f-acf7942c25a4 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9476c1e-db18-4817-9203-e9f35f06e7b2 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bffe662e-b295-4b9f-93e4-b5e1f878dcf3 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bfaf4477-7544-4bb4-aca6-eac8f8a512ce phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:960d981e-2d7c-4145-94fc-a7e9e3f9b527 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a9188aaf-c37a-4593-bcdf-7a04ef65c3ec phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2245a488-88d8-4300-b81f-9430ea499fd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25cd4cde-5323-4d19-bcf6-407c1ea9bb78 phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:c43f852d-ab90-45ed-ba02-71b5d4c7335b phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:ec456637-e5d7-4e8b-a5fc-965ebe683496 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1ed9adb8-03c4-4b6d-8e9a-410de800f16f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:94cbafe7-0531-4d35-aab9-a27761672dec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f89215d5-75b9-46b0-b61e-9ea6f8a84a59 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:059c8923-3a40-4de6-ac4c-712ff80420ef phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:508e76a1-bc73-4973-83a8-33ee657f0733 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4ec1ef05-ac68-4dd8-8694-6225444758b3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:41d402e7-81f7-46e5-b8ab-43c42a5ccc56 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2a524617-30f7-4e3a-8619-ffd5a6450c4b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:943c2709-9d77-4c2c-8ac4-1b5b8055de2b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a13a9034-5396-435e-b399-e026c78708c6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:53e3c167-8e19-4e91-b5cd-85dea617d0e5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cffa54e0-6d1c-4813-8352-a2c2d1b917a7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:23e991e1-189f-44ff-914e-33dda1b906a4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:582fb3ad-6f47-45af-b355-4e534aae925b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a85bf03b-a175-46fc-80f2-31eb057d8512 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a77e6a8d-d114-43d2-8647-587d1b3f0d34 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3f4563e1-bfaa-4150-9da0-84639c8ce1b1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c2f60fe-90ea-4bd3-aa96-6d0785f170f0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b0ec8829-9f17-44af-b7e2-7d73b4b859c6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b71b52d4-f0a6-4830-90e4-15aeafb17371 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:41ea9e86-120b-400b-a5fd-c426e84c0ad0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b253102b-480c-4dfc-93c3-ce438258b7f7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:820ebd1e-9adc-4b4d-8c5b-d7fd4dd84953 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:011ab5f2-84a6-4839-bf80-e886d6589299 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a1e3631-deea-4d6c-aea0-5ce0781d47c8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:72c25fee-b333-4804-ae6d-24878154bd2b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0a373bc-f257-480e-b5a1-7344afbc2bb4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2c0ed4e-4774-485d-91ab-9d52cb5996a8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c157bc02-7aaf-4e91-91e3-92f951648e4d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7249b3de-5ff7-4c0e-a957-03da58abb641 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d49c973-fb4c-4906-bb74-e27407e39ba7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:67d57fc9-5c9b-4796-986e-894be9ee18a4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eed48a48-6da2-4540-8958-a9a454abd410 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6fa2af19-a0d3-4e25-adae-592f0754176c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ab08459c-f4fb-4e3e-bdcd-ffe09a1e20d9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70d8d0eb-666c-425e-9770-313a02a9fa7c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9ccc0b21-ec37-4cb9-873d-de72119728e3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c74faeed-c610-4bd0-ba6b-5c225604793c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1995711a-976c-4ee5-a562-d48f489e22fd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:599aebe9-31c3-49b3-8594-5718f8866ecf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:835c87da-393c-4753-a23a-d832b3bb95f5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:56dee625-253d-4b79-9f3d-2b6bfb8b7d6e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c3ed8a0-456e-4424-a785-3f71c59c8d1b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2e74d34-38d9-4c3d-a9d3-f38377208f6e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:940c1804-2776-4c95-bd76-b36e70aeaee8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4c86aaff-dd39-4afd-b4a9-f3a24c90c548 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c05b9cdf-7899-4be2-b3d4-142a08306ab1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90ee06dd-6384-45db-8daf-87e95df6b509 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0879adf3-2694-4d97-87f6-509b54a0b34f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:155d605f-d70e-409e-b42e-31d0ba9a1dfa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:310fd9db-261a-46d6-a535-237ddb49a27a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:302d3019-d017-49cc-97ec-087982eee7bd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8e806f2-f2f4-4586-a87e-237ac7d1b5bc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f3fcb732-dc74-44ea-8571-fc44c621c6b7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5b3bc12d-e789-4f5f-a7b0-b2448f91d305 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:604be3f2-e258-4667-8f98-86c93728579a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9844798d-609b-4ab2-ba84-153e11833d76 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c4277d80-e728-44cb-8c81-4f8463a8aa22 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57a0d93e-5d81-41f7-b31f-1708cda204d3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4393cf64-11bc-4689-bc40-10f8e6ecbba9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c321c367-3383-4eb3-a566-499a9f631448 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e74578e-c673-4c50-b804-44b9d0689dfc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:707f4af7-e709-4c7a-a4e2-57226a4576fa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3fd81cf-1eb0-422c-b0a6-8004424ed44d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5af4727-69d6-4682-be3a-f3fb9921e755 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c25aeec7-9c76-44c8-963c-8f544d993971 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da5be1d3-5646-4fc3-8f4f-7908ea7480f9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:88ee67ab-cebf-4b55-a0ab-e44d1922970d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:a2e626d8-6bcc-4f0d-a01c-6a0f49892b6b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:98272934-1063-438d-b32f-566504fc4b4b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:40afc943-7083-4b06-9257-a09e6159880b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:efb4ce08-c10d-4946-bdff-ac0deaa6dfb4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4fd024ef-5379-47a9-8dac-9343f5b239cf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:83df0b3a-f54e-4981-94c8-44222101f1e7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:040d7975-50a7-4aad-8240-9f40551f4c09 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95248cde-df06-40f0-9438-77dfa9c1021a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e8c7016-d0cb-4cac-bde4-f04243040e71 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:efad012f-3357-4530-9470-738815e238af phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0a710e0-9ace-4c1f-b23a-d7dce7b0a4cd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:99c4e7a8-31fe-4efe-84e2-7e6f98798cc5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:40164a95-3f03-405f-b3a2-0338d0deb9bd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:641e2ad4-cdb8-40df-b251-20ce5c40a6b7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f132e404-e94f-43bc-ada1-b4f9f1a5eecb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f6726e80-ba05-4b41-9cd1-b6bba59e1eb5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:77197db0-e4f1-4137-9ba8-0e4e8d374adc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17bd61c9-347f-4275-a787-301293d03b66 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9703f2d-7707-4c84-8443-5fdfdc8e5515 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc7d2a25-1c9e-48e1-b0fe-21ee16762284 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc19fbad-52cd-4d15-b3fb-a05ed6cb89e8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:987c9788-3086-4649-9cd6-bc2341491735 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e1725aea-de7e-48ea-8d67-7298c2c0dd9a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:629a21e8-673c-4ff9-8900-0c46597c2d59 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2dbcb1d-16ad-4b3d-a9ac-88edf3bd40f7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b532e310-90ee-4ce8-9b05-f4388abdfbce phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4e461f9a-1cfa-4db8-9978-5bfe3b68c3e2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a287705f-8280-4789-9ad9-4ba9fafa90b5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c9b075b7-da93-4c96-a04c-aca7aa9e53d5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:954de4f3-e03e-4f54-9a98-843346700786 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e09da9af-e6ea-4ecf-b3ce-b582f880edb3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5fddb9c-41ba-44df-b45f-25ed28192031 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e894cf2d-d9d1-4d08-826a-8bc6f8451653 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fce4862a-5b7c-48a3-a19c-236cf8477756 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:44352b1d-99f2-465f-9a56-157fdc197e28 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c987059-3c89-4b38-8f02-82ae0384aba5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37aeac70-2dda-4155-9c66-e2d1316a3dc3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d6f627a2-9e73-44ca-b653-b83cc610cbd3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:ec415f7e-67f5-46df-a7d0-58def4f181e4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:91e2bcf2-6984-4308-985c-3d8f33662064 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0c50dda4-a028-4479-8217-617026dcb1a2 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:31ce02ce-80ae-4b1e-929c-7f443982829c phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5505fe8e-eb1f-413c-878b-1913865971fb phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d3e89bb9-7780-4f23-babc-37a1cf69795a phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8768b924-45bf-4936-9b5f-f7f380f70c45 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e7f6ccbe-c84d-4b7b-aa4a-3b5867b11770 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2ac5f47c-87bf-4094-8102-cee7b70dac9e phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c405007d-7665-4c57-8768-084c688e8a0f phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f8fcba00-f1db-4ed7-a6c3-fdb627564bba phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bcf12342-eefc-4eb4-9cb2-05a3e2d62714 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ba1cfcaa-53ee-4a0f-8ffc-9f02e70af792 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:44030980-86cf-463a-b5bb-be3bbd7b44f3 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a6241360-919f-420a-adc1-840f8611d708 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:503bad00-e46d-4d54-b643-1664af7d1cc1 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:354f1823-5be7-4426-b0c3-fa78a90fa467 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8a50fb5-b2fc-4396-8073-7720457c74a9 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:088b8ced-0d28-40b6-aa9b-be81b1ebecdb phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bc08d433-776a-4770-a4b6-01095c9d6c0e phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a45e019-af66-434e-b08b-b73f3ed95dc3 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0d7c0f0-dc62-4575-9b54-f923b1e6c659 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a9ea61c-918a-4757-b5dc-9226fa07c243 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f15d0398-9596-4d4a-a2b5-cab0a3a7b070 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:274f9701-ae3a-4576-b7b1-0a437df79ec7 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:259a8ee7-7109-47e2-bdcf-0b31a9f4e4b1 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4aa762cd-2c69-4310-ad7c-349e2a639200 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4dabafcd-2feb-4a05-9116-70983ad5a7cb phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f596d48-4d90-4f39-a2c5-5bf187f55911 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d9ad733-f999-4056-87e3-0d056f820c85 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5fb470a4-47e0-4da1-9654-2e84cb82f540 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a2484197-ed0d-4f0f-8dcf-e1e37c85270d phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ead8cbd-0068-4cb9-bd4b-cfb41a9f6851 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70922e4e-e947-4f7d-9266-c25fdefde4fc phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2df10cf-4478-43a1-8744-19de64cf5fdc phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b3ebe80-6bd9-4bb9-82b2-2551d3a2aa0f phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61172a3d-dad6-4f45-8f9b-331dc8af0acb phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65e3ba86-4ee3-45a0-8912-647324e88f9d phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1a6b9a7-4b48-48d7-bf94-5497333239d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:973fec92-b54e-4a49-a626-6a2aed322a32 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c9c8b79-d362-4267-8947-f5f1888b297c phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7bb30e5b-f905-4bb9-8edd-6b77960d099e phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bccfffe3-a433-472d-b01e-fa7e1415a2a1 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dfcc5aef-9991-412b-9869-2961e6960ced phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f485fa34-1a59-4ded-9250-5add7732debe phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7991859-0724-4872-a051-112cae2a34f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8903cf23-959d-49d7-a729-acb3641999d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cda463b5-c1d3-43b0-96ea-1ce53e607e16 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:501ef489-fcec-44ea-912b-8ee6e7483174 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:59480502-686c-429e-8e44-b1abaf0400d9 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5070662b-052d-472e-bbd9-232e5db7fb1f phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ca74677-92e1-4764-84af-f4b7178982ba phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:691f2bd4-69aa-44ed-9cf7-aafe228d1104 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9544be5a-b4ab-4543-9e67-69fbc4596612 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1a8c314-f91f-413c-b4a8-68f8fdaa6566 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f88b0015-fc40-46cf-b438-ef5961ceba24 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66f0c2b8-38bc-4eb7-977a-276f3a7b4456 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b051945d-d591-47c6-ae49-f945fbd1510a phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93c54f2b-3dad-4c0d-b175-59ef9c96c4f8 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aa67b082-dbf5-4b2f-bcc4-e018cc4190e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:26cd3a74-1230-4d33-9fc6-488243e0e9b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:480a3446-aa16-46ae-b3b9-53a44090e904 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5cded469-b949-45fb-b2dc-2d923f216307 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4dd6fedf-ae58-4e45-b422-d294427f17e3 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:760546bf-a195-43fb-9fc5-7e3c59fa5273 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8fd69d4-edf5-47f2-8586-7c5e6526cd29 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:56477ce1-4892-417d-b6a9-0c7aac775872 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:40ada4e8-d8ca-407f-9e7f-514f891eca23 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8812cb18-efbc-484c-b0de-a39a5f1c6be9 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9d4bf5f-94fc-46ba-9cf8-bf14109a0b1d phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4c3b664a-e9ba-404b-9743-cf95e55f31d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5b20aa1e-14bf-47f9-aaab-02d27ca331f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:27477fd4-6fa9-4541-94f5-cd2d5e7aaab7 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5000c028-83b0-4230-9e36-c282e20f8391 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ef73b35-a571-4d7b-b5ad-4dcd0a873d43 phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:fc30afde-1de1-4980-8231-d41d138a074b phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:8f7612ce-71c2-4bc8-ad09-83b79b20fb84 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2961dc02-6cac-4970-8368-7b185c19db23 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1b03fda7-c585-437d-8324-5e0723bc032a phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2c1e76f2-7252-463a-9a72-073e5237faed phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:268e2e0c-51a7-4109-813c-7c0cd434805b phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:213d05f5-1062-404a-a5bc-456065d981e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ffbe3446-67c9-4a04-8d62-748c28c873c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:709b0656-fe5b-4216-97da-6387bbb37b31 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9c2e231-9d84-4d8e-a2fb-6de3c7be17d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2efde5d0-cab2-47b3-8676-4f0253c56fbd phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:617cfc30-5b63-408f-aba1-95cea5ee6675 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:10d791bd-1a37-47da-80c9-1a11cb775a30 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a64f5c8-d74b-4f7a-93d7-74ec618669ae phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d781039d-35e9-4ed5-9674-d8e6849ca0ee phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7df87878-3cdb-42b3-8e7c-08e96094dafc phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7f2a461-8838-4d03-ac2b-021606a21a66 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23299cdf-bfb8-400a-888f-dc906ff150e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5ca9edf0-b760-4d0e-9d16-0e0b337f3f65 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bab31901-8dcb-449d-8ff9-0431846c6ced phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70173469-a236-482e-b732-f6f735315720 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e032ed65-474a-4315-a434-6892173c269d phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5210b38c-7b2d-418a-8377-84b46833c9e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:48fd3f09-b6e9-4256-93ec-8241fd032289 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dae55db4-995c-496e-96a5-4e9b93bb8675 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:10c96649-bb36-47b4-b32b-821902f0d671 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0c38d4ac-5966-46d3-b792-01afb7668ed7 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7d70f8c-ed6e-4f2d-9794-5fa3c03ba484 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a50a6da-1454-4eaf-99fc-9106bacc334b phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57e83cfb-ec00-4944-8e1d-ed67ba42eb34 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bdd44212-ce14-4a6b-8ffa-bfbd8dc04a90 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e1b9903-075f-464c-a651-312af3b764ce phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:457e7484-91e1-4ffb-ba34-b53294ed5f5e phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:387b7cd4-5147-4be0-b8ef-a0cdf225fdb0 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:856a507f-6bb2-4394-ae6b-3ceddbce2d22 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f7654815-e79c-4ef8-8665-37cd0bb66606 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa4db5c6-6c0c-4125-944d-c66e5dd9dbe3 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:92b91bd8-2dbf-4ffb-b5a4-6352eae227aa phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4b8fea32-2c33-4f91-ad51-e50edcb7bff1 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35128ee4-4c01-47ce-b845-ff6ae9a9e166 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2709246b-5bf2-4134-8289-c2188c3992f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:77db3973-ab2d-4208-a969-8e22329e3c50 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ab7443ce-287e-4863-80b6-8e1ddbd4eeb8 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb57a428-ae48-4a83-9126-0d6eda928b34 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4d52d8c-a3aa-4ef5-8962-a61559baaad4 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14bbb5ad-05cd-4a37-835a-41e07e10638c phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37b69e6b-d37d-49ea-8a13-f923bcb3146d phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4a2da1d3-b7d1-4612-b83b-4618b1420a92 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8056aa21-241d-424d-9c22-346a6093adf9 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:24127283-8fe2-4e7e-9c8c-3222b9cc274a phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a732f8a-9dbe-46bd-9787-c60ed4fb81ad phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:53ac78c7-880f-4b6b-9c4a-1eaf9032b8e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d592185-f96e-4a12-8091-e12ce8dd9035 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:178a930a-e549-439a-89b7-6eb644bfac96 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e24d0415-c39a-46ef-9ef2-ff829fd45590 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1da4133f-79f4-4630-aed7-885432848b7e phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef641825-e4cf-42d5-b2fe-ee8c4ea1bf20 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ef76cc83-e4d7-4ce1-a24a-d9d5242b7d85 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70e79603-d3c9-4bea-b427-b450f793b25f phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0a21de7e-8aa3-4be7-b15a-2132a7de598d phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fd9390f0-9625-4f39-b676-3173c3e0fbfd phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ecd7b47e-50b5-4ef4-a9f4-cdfd07694edf phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bce00f7b-6d13-4d52-9b0c-8f85d528f9e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e31e6987-7c6f-453d-ae30-190ec279b25b phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55d2587f-7b0a-4fe2-89a8-6c75e024c605 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0851275d-a41c-43db-bf90-fb0c15fb7143 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f9bbfa7c-a27b-4e45-a3da-eb86c57c2e0d phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73e52e52-f4e6-43bc-b85d-81fb5c56274b phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:de089c83-ee85-4111-b1ea-3f51e7d4b9c5 phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:175a50e5-85ad-4d00-b202-a54716e2a624 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:37d06d30-5f4b-4b95-889d-ab765129ec73 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8306a65a-20b6-49be-8d02-cc393c287830 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0d1d9dd6-e989-4abb-9b19-e2af92cd65b8 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b064452c-0914-4b1e-9ab4-283713356e73 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8a5068a8-58a7-49e2-bfe6-f84af180732a phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:291198bc-b5af-4ed7-9595-110b8f4fe9a5 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:33075488-2707-4d3a-bbac-787663ef5f17 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:810a5e86-e4fb-413a-9ddb-014e419283af phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3c759417-d959-4b6b-b816-d6d3e1f9f10e phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9bc7991d-a27b-48eb-bcf3-9a747bd04e9f phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:71e34f59-9a3f-4df1-ba9c-cf86a5b5c1e2 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:edd37aa3-2554-46bb-938d-710123683860 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7abcae0a-13ef-4cce-8321-e11e48d133ae phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c570e3ac-b6ab-49b3-b5a6-2ce4a25a76e8 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc0bd201-7e4e-4d75-baf2-4e98e2aab234 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a9626be-fe8c-45f5-a5b5-932ee7fec197 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7192607e-0890-4603-8f3c-5ca8059663b0 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f3779bc-87ed-4bac-afbe-ac1608a88954 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:38a54aa4-8d08-453a-a834-69e31bf02c2a phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cb176384-d85e-4685-95ff-06938134f3aa phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4eab2d49-4c70-4ea4-90a8-435bf4ede4e6 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5624b172-6b8c-45d1-a132-2356b279e4ed phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6686a6e3-3ef0-4356-bab4-117278a9b273 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c303d11e-046a-415a-ae47-42d0ea5171b6 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c78232b-cfe8-4d63-91c7-307ce2c2142b phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33cbaaa0-3b0e-4ad4-ae6d-8b32c25e7524 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:af49accf-c217-481c-8b92-30186ed7f33c phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ffb6f431-f507-41c8-9947-515d943e5056 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d5d7795-ca5c-418b-939c-f6aab9902b51 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0bee9e53-2a7a-4fb5-90d3-5748c8a2b5d5 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:018818da-f45d-4365-a753-6b9d0b1b5216 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad187aba-b0ca-4dd1-8d1d-64b500481fe1 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec747f54-fd6c-4006-b40f-245caeefa6a4 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:281d24f2-4e75-4575-bb1b-9a602a643c00 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b557f680-5d13-47a1-bb00-2dd311afe178 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2c55315-82d8-40c1-bc3c-d2ba309135e7 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:807d81e8-1308-49e5-9143-f2e47fa04c0c phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1587f5a-962a-4571-bae9-0c83598b5439 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69233641-5f82-4a25-93c3-d7499fb65510 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f151a585-4043-45a6-af51-8d56d93cccab phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66bd3cd6-6879-4178-96b2-7e6a67cabf92 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ede8269c-b105-4baf-8200-d11cbde122f4 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:082a8450-66ac-46b0-9eb2-c303619a88e4 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1a87868-5957-4fed-b750-69b603e9cec4 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f434bb6b-ccbc-4d8d-bcb5-982978b75667 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ecff03b7-3b4d-441d-aca5-c7eb76abaa9f phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ff05a1a-144a-43ab-8f14-6418fdc08f58 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:028dd7a4-a75d-4648-b428-5f41bcfd1e03 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:09eb82c5-35d9-48b8-aaf8-305e25aaabb3 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:187afa78-47d1-4b59-880b-9e67bb378289 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:abae4ac3-d5b5-49ce-9a11-5cd16b9534e2 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:106ff35f-1b84-49c7-9da2-f8a935933006 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2400f16f-e3b1-42d2-8fff-6f52a8b49498 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a9937ab-a216-4b8e-8abb-c5e2500e8375 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65a0ef65-b26b-4bfe-af7a-d7c7629a4612 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1c12c03c-7cee-4d41-b672-d81e3d77cbb9 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7790aeaf-93de-42a0-a313-9bf3099e4f1a phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31dd41ca-dc2b-4e4a-b0ec-b68814f10d82 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9bdfe38c-870e-4242-8c61-85b83120ad04 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7fef9807-c788-4049-aaf4-9e45844ba628 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f6493614-9e88-4d66-b650-c50dbe6cb9fa phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:849e8120-ccae-46d6-b1bb-d74cf6feed83 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:075cd7a9-0378-4320-a5f9-5c9adb961148 phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:f4957772-ca29-4d49-a1a0-d84893996f75 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3d27c3c7-3d33-482e-8b20-50a225ba2dc7 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b2754af0-7738-4aec-b965-204cc53a3b28 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c9f887cd-ef62-41bc-be28-d5743e7253ba phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5aef0880-ece9-46b4-82f2-76ed095d353b phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:35153e92-f26a-45cb-af48-bd2d50f153dc phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5b276553-a34c-4c47-82fb-06cf6015837e phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c47bd83d-c5a6-46e4-9c17-76c93c197f86 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:444c8e02-4fee-457e-bf38-286654b03ba2 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:60c33e3f-c84a-4116-bf3e-d489dd01462b phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:33cb8067-6915-4301-858f-8ed58525f2d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:018d0721-191e-4b86-a010-19be2ca5a118 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0860a110-f4f7-412e-a9e9-3442ca2cfad5 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3df9c31b-e901-4f53-ba47-f028a09e7151 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5fa34729-2a4f-415e-ba5d-0867e5147715 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e40389f6-49de-4cde-8d4e-2375e1bcae0b phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a58c3f2e-c4cc-4c73-8e19-999258d8b838 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1dd24ff2-704d-4a34-ba2d-40e66a795d44 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0ddf21e-9804-431f-be9c-fe17f443b67e phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b57bbf6f-bcb0-4fe9-b83c-df97464d59db phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:941f37d5-6abe-40e1-8aeb-15411f82562e phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4ca6702b-b6d6-484b-9ace-2f6b58c0366d phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6369361a-1564-4bf2-819d-2f4e5e042f0c phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cf521d2c-d265-41e5-8915-b3c7e5008f66 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a3cb556e-56a8-47c9-8f95-4e612d5b8df1 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1a85bbe3-698d-4ee6-8f66-3c8912038685 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c59c8703-38df-41f3-9baf-539e80c355c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f691383-3ba7-4cc7-850e-d2d15e2d6318 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fd4e5ee8-87a4-4a0d-bfb0-df24cb8bc63d phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1a174ee-53b7-4222-9744-741100884201 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4faffaf3-154c-4601-be7a-a0d9d4b718bb phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4dd7605-f92a-4495-b2eb-8e32f071b915 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3e98c32-dde7-4cfd-a4c6-97a52e4b5108 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c399748d-e811-437a-b190-74b53c7a21fd phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9e74f60-fe61-4516-b17c-978564068c7a phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:52077085-3137-4fe0-aa90-ee689262bbfa phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5d2782b6-1ef2-4b19-8c1d-eee8421ccc79 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:110f5180-83f5-4c1e-b3e6-9df2f991472a phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:898e95ea-93ba-4b0b-815a-e1fa4576516c phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2dce377a-f310-48d2-93d0-268d8358107f phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e821684-1891-4d5f-a068-e18853185819 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d610b281-d4a2-445c-95ba-d8d91850082e phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ca056ea-66f6-4cad-9a74-4c1e91168a18 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:051bc097-046b-46a7-8bae-18b2b4b8a43f phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07d6d83d-d2de-4988-8c91-b82aa7094aeb phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6e6aa58-4112-4619-b894-0a04c22b7b81 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:16e642dd-3a50-4cb9-abd2-40e11116fa2e phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0083564-941a-42f2-892e-a994c1957acd phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0fd45b84-fcf7-4987-a939-740f7fbad22c phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f6c63c2-610e-4e3e-b0dd-a269c5e733c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:105dfd9f-2b88-4eac-9057-cf7106d90117 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc15ef2f-297a-4867-8e40-ff85476c3549 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c48852a-a0b7-4ee5-9286-136d5116c20c phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0d6ca6d2-445d-4523-9dc7-ca6ae19e907c phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e5988e01-32ff-47d7-aecc-ff5d6dabafb8 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e7f52ae8-04fb-4b22-86cf-bf62a4402d8d phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d6ff12db-e5c0-4fe4-ae10-89c699fbeb36 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5280d4fd-0272-40f8-a15d-eb5b2ddc76e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3657cf6c-1254-4aac-95d5-a5e5b849a93b phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f35bd7ca-4cee-4cc3-bc3d-2185454115fa phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d8ae62e-3b83-407b-8606-8bfda52c5a19 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e665f75-f2fc-4af8-8c3a-71e2494d76ee phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ffce0a89-9317-485f-a2af-a854a37f3401 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e6e1b44-1c0d-466a-aa1d-e55c577d18fd phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e27fe229-3ffd-4657-ab23-8f88112b2240 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0bca3765-21fb-49db-9925-c737f3bf541e phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0b5161a4-6d60-4c05-8793-6d1023a0c8cb phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70deea1a-83d6-4b21-be18-5590c245e276 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:e05283bf-e20d-45b2-b6e1-b11ff9a927f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:10cfee14-99af-4318-b60b-26b99cd02176 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9e5bcac2-5880-4f52-a028-b77436063888 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fc324755-b3ea-4854-bacd-a5e1c4c17b23 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:31b17631-b9ea-4e36-b36c-6d7e6999c40c phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cbffc36a-a162-4d7e-ae3f-99e74305434d phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:00134547-f40b-40cf-8ce4-2fa5bb84a926 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c35431dc-7b94-43fc-b26b-d102521160cb phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4cb5f8c8-1a7e-49b1-bc56-84569528dfb9 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:19b87d16-af28-4c55-8620-734da1a0baf7 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ceda3bcd-2ed2-4e4d-9766-30316614d981 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:707890ae-df9f-40d7-83fa-b4422b356181 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e297c802-c3b5-4dd6-85ab-56e6c2707dbc phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b78183a1-37e1-4e91-bb7d-44a90f3d7ecd phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e6c69f20-407c-41ce-9e1c-9258cc56f52f phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d0c6c66-115a-48e0-aff0-c1c0454190f8 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c6d7f22-6e9c-437d-8253-ed34e7e43636 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46ef1f0a-77ae-40dc-b42f-4eed12fe40dc phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a69a4b39-7581-41f7-a8ae-17dbc2a7ee4f phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:54650f11-ad39-40da-bb0d-297b3479090d phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:703f9e1c-73da-41fb-a3e2-606fb1f187af phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:903aeb9a-6ced-4a43-9ae0-6b718d070cf3 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:98335b20-d3b8-4fe1-a821-0519b2e88f48 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6dffd838-25f5-4ce7-9cda-239992006dfd phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e66ac329-6f97-4bcc-b266-4ba4b1bde81c phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f5efb5e-0342-4706-b6f8-9511001ee1fc phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:345eaab9-89b6-458b-8e18-fbb84d272b4d phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ce10b93-b079-463f-a5a3-2ae4dde0dff7 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45d279e1-8646-45fb-bc0d-73657f9000f7 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46a05b73-3d5b-4a75-be9d-b8f55d20ab52 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93d18051-84e1-4819-b534-9ae85b69d82e phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b5a4d9eb-e907-4ee0-8742-41a26547d47e phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bdf6b904-13a3-4ea0-ae71-33772f4433d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0d2d0e12-af0e-440b-85f3-bc528eb0a0f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c414aab-29d0-4593-82f5-99a4cf8c90e5 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e011c55-9b36-4757-8254-c6a497e7d734 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5004a5ed-4928-4f0a-aa4f-a2aff95e0b7b phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f300abb-d553-4ba0-93e3-ec4d355181f8 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b628ddd9-5692-422c-8a0e-5530f6545279 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c836c24d-2c83-471e-8427-9ccff94f776e phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8b59866-5b3a-42e5-b3e0-70b790ad10e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f87f0f04-5f2e-43a0-bb09-17329b687d15 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da213141-9402-4b01-a96c-93b145a323d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0249fd4-5d69-45e6-86f2-6cd845555486 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:994bac36-d727-4e68-901c-f55ec28d3477 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61146431-39f9-419c-b140-97964245b6ec phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:adb35787-dbc3-4da7-b07a-6ecdf6b8aada phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:734e706b-ec83-47bf-b073-ca194fd60f76 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d54097ba-2ada-4bc3-92a1-db8964bf597b phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8975842f-5d87-4089-888f-091c7fd9c714 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d4b83294-0634-412d-8ec3-829c667c7132 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c63ee45-a602-4c8d-ae27-16a729cf8631 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c9ba3e2-0b10-4d09-b8c1-c91e3a49c39e phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d84d96ec-7486-40bc-b694-0229e1f0236a phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2a24a79b-7f54-4c85-bc53-d187ab139e91 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bb2d2e43-2f7b-4fea-862b-72de033a76a7 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:355a98cf-1151-4408-8a61-f1b3190b1a6a phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:958f3e71-a4cd-40b2-bc00-f28190d8d2e5 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:312ba181-d4f5-40ba-a648-7ebfa470ddf4 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fbc749a0-7fcb-463b-ab34-2a4530904015 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:597d6bd3-5dd4-4e4d-bc1d-96c5119a2178 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:557441cb-813c-4e83-bb54-ae2880f3f06c phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2c629da4-befc-483d-961d-256c977bde1a phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e327e910-b92f-4216-abd6-569d24838aad phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d890f417-bd91-4b77-9ed0-09a9cc19e655 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e632c66-53b0-40f5-9038-5c4f1129c353 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ecd6e3bb-a004-4b8e-a917-c13a83410270 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84a1874b-cac0-43a2-b6d6-f18fbd06f8cc phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25b95f97-9b8c-42c0-85bb-e8936162ec13 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:efebb5c2-9470-4acb-ac62-976027b4d416 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e5ad4525-ad15-4590-8bbe-a05bab26ada5 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ede3282-713a-4cee-b8b9-17ac0035b861 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2330f3d-cce1-421d-a9c7-416650ec8656 phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:b95810e9-f0bb-4ab1-afb8-6d7f8e4f618e phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:bb79ff0b-3104-49df-8909-91eadbee13e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:638951c2-0045-4038-ad91-5d0b67216611 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:26c19428-0e4f-4375-b91e-5322b10cd419 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c34fe903-b121-440f-a7a7-ca9e09da56cb phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9d13092c-7de8-4c9b-9e5f-76b5fad3f1c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:78dc904c-f892-411e-beea-4c0452d36526 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d8f0033e-3a2b-4d39-91e4-d4049fe311a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c0daf1cc-3b5c-4dc4-9949-31ba703218c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:17731643-0bea-47bd-ba1e-4afe94f09751 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:64386a8d-e919-47f8-93ca-01a96197fd8f phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:53fbc476-6000-4709-aedb-59f89129c18a phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7c6eb60e-353b-4a0f-ba8d-8723fc903281 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:07acf01b-89e6-426a-806a-2635307b04a4 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5b1568e8-5bde-401e-a1cc-6ed8f10d8f3b phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c15702a3-9341-494c-8ff3-aa6509a0bf2a phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9fc7a407-d8bc-4233-a1bd-f1c0f5c68dbc phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de2d9526-0f39-449d-af35-3063850e8ace phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f0be2ac-8a25-47ad-a838-38d6361df9b8 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:add1ddd3-a7db-44b5-96a8-de8c9bf10919 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f83b8bdb-916d-45bf-bd76-4616a9021533 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4524c91c-336d-435d-b0a3-50a71a97e038 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:954e9dca-36cc-413a-94ec-1871df2963db phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b6082945-458e-4c1e-8f6b-15116cb95883 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:34f4e9c4-97c7-415b-bd1f-4b9051df8320 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bdd7a4e7-18b2-4969-9d3b-8908e87f4fbe phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5b5d0862-b410-4d5c-ac15-060cb4d059e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f39eaf1-b10e-4c21-a1f8-1a5531a6f840 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e11d95f-d004-4f71-a151-63b3a0f21c44 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4b52007c-2744-4f59-9933-1e20c42f3ebd phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d844d24b-ef49-4f62-8776-845944839bf3 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b0ea78b-ee51-41da-b98a-702744347ae2 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e3c4a4d1-4cd7-4d5c-b0c2-857fbad8b891 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1cbdf143-d3f0-47f4-9c27-3d5ffa982482 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea3d6a8b-8da3-4d0c-b061-852745ae7297 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b853d54f-be45-4097-819c-cf204b288861 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33bd9e12-7693-468e-95ea-18410721a2c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4196cae7-22ee-473b-a899-7b2d4257ea70 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f59a818-bd24-4ff1-a648-e4830ecd9046 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aab27f8c-4d24-49da-ae28-100a3b50fc55 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cce36b9e-abaf-43e4-9e22-90d183bcbe33 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:796f8119-9df1-49b0-a926-932cb70a8b07 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:72b1c8c4-0e87-43e7-b81a-e1c339ff53ce phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:589e967e-1f63-4582-aca9-0ea29502a4ef phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07926a4c-826c-4d15-9741-27f3ca3651bc phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e35c0434-1d33-40e6-bad6-cae213713f91 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:391c84ac-f969-427b-beb2-34a01f39490d phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a07c2aab-e2f7-40b5-adeb-22ba135afc4d phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:becf841c-1817-4750-a716-16858b3a934e phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17b0172c-b1e0-4086-9f77-b1df14a490c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3490b42a-c3e8-44da-a959-1a5e7611ae08 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:643c466a-8b6a-4d90-9080-8281ca592b83 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5fe59ad-9c06-4477-b76b-4dd1d4f3940e phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ccbe3adb-e618-4e2b-8b4e-85dfbe479dee phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b045a55-4fc9-49a7-b5a9-07ace120f08f phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aed6f439-40c1-4872-9239-cd581d0d3601 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31997ceb-3235-4186-9f0e-da45c5f2251d phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3957f3cb-dde3-48e8-b306-f7f859a1f654 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f747d113-5b63-45b7-beef-34985217c1d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d835c1a9-056a-4084-9268-25decf1fb851 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b502cffc-9720-49e9-b47b-8a940c2c5a9d phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d784013-b2fa-4386-916c-3af1e6d8f108 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fd77ccfb-27d7-4862-964b-447e5b8823ad phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ae7914ea-ce39-4be5-90dd-e5f5005cbce6 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:41428489-4c8c-48c1-8877-c6328822d86c phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d602fb72-50ad-4102-af88-6bcb72e62e05 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5cc24b6-1ff6-477d-a0ea-fd7a65c68cae phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75c15792-1792-49d8-bd3d-7b67d9f4baba phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e64499c-f3e3-4a78-b389-be27239d7508 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f159a218-ab67-4535-822d-07d11517f721 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc7ae435-6a34-41f2-8d1d-c6917eb9464b phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f3378d6-2e03-423e-a06a-ffd208b3a7f1 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:00a161ca-5608-40e2-80cc-15b8a706f061 phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:d9dfac95-1dba-4501-ad2a-00cfba86578a phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:30580808 uuid:5f07b6a4-8757-4475-8cac-c1a4f7a0f291 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9d0e7a42-4fca-491a-b6b2-f89be0fe550e phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:efdde58a-0b9d-4cd9-b940-830fef11957c phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2ad466e5-da31-4a61-981b-97b6ad8f513d phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8cd07426-9715-41b4-8ff0-2a71024e8e03 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c0a54cc2-c072-4629-9995-b7ab4232eb8a phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ac1e4aca-5c6f-4af9-9000-77b5c1a11008 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3e51f7b0-fc4a-4dd8-844b-05510d4b67ce phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ed9591d0-96de-45d2-89b7-b730b5f72aa1 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a6b392c5-367f-43e7-b82f-b438188a98bc phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7fc11cd5-e68e-4c66-9fce-d843dfbadac3 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7487f814-1c27-4c18-a822-d35e67bcda9f phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f851cad-55c9-461d-bfe1-c0ccbde09e07 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:496a0e34-069d-400f-9c30-81a9af60936d phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dbc2d6f5-2741-4090-9efe-22e08a4cacae phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c17f97b5-d8c6-41cb-abf6-aa8c45441674 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:68cdd17f-2a91-4805-a86f-56675f234963 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f749e6d7-77f1-4136-b7cc-54665f2015ee phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cff57337-452e-4336-84e4-67db60a8a214 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d956961d-fe1a-46dc-b3b5-98190336fb95 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8c90c84-82aa-4c07-bc30-934385e04e9f phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5a7f0bc8-80a2-42fe-b594-5871fbe5fcd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01d62609-4521-4e1f-aae7-9c99466edae1 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:933b5843-8656-453d-95ee-721d5ebfeac0 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e51c48d-1e91-4f79-aab0-56269eb69b7d phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9c32196-7d71-439d-a401-cc08fbf352ef phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1cf0b2dc-01eb-41d8-979c-1706a91382fb phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c27661de-3570-4459-af5b-ecb1aa18a252 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17a57570-14b4-4e4f-802a-bc09e81cc61c phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:74570fce-eb9b-4e5a-bf1c-8df2edddcef2 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b35e2be3-125f-47ee-9f87-d20fe6216f3a phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1177df3-d4c7-475e-a8e4-0f7e0201b235 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30312fbb-b65d-42d8-932d-6a530142b769 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:79a3e2e2-3bca-400f-9e28-e52d770e48cc phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0eb208a6-6289-4e26-b148-a0f28a635f47 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6bdbd91-6b3b-4885-9853-f351883c8d7a phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6c3a36b-b0b9-4647-8018-40cbaf8942f6 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:617e4e11-120c-411e-b73b-2871cd5998c4 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8954fe9b-4998-4d5c-9497-9ec40ec8ecf3 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9e4fc2b-a983-46b4-ba99-23cb6502ff81 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa0686e6-0dde-432c-ab03-63452805b7e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49de7500-368f-429b-bff4-f38fa2b4eb00 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:08f9ceab-0462-4d96-9fa3-de2e7ee8d636 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a91103ab-69c0-489e-8c2a-359318731acb phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:80a0ff19-3a90-4307-af7c-45a404476f95 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49f82c96-704d-46d1-b14a-1652cfff6a60 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:28d07926-eb97-4268-96d5-abc2b80324a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cadc76df-1f03-44d0-9609-389e6f763969 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c63a39fe-ad10-4950-b960-7ed8e6dcd322 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d91784f-f209-4269-937c-fb938847ec9f phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f15e808a-a244-46c3-bd67-49b753adaf81 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66f23de7-f503-4f2d-809f-5bd7997d17fb phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36be851f-96ec-4d96-8d0f-105757be389c phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c77e78bb-7da0-46a7-8c10-320db6f4619e phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b796a700-86ce-48a4-bd2f-2ea042b32d6a phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:256d6418-9762-418a-af8c-09a0e2b8d574 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:89b16892-5441-4625-b661-a7f07028f2d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2c7f2c46-af9c-4c87-8b0c-74c46d72f38e phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7148ed26-7a6c-497b-844e-f4d4a15dd003 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c4e0c6d1-8887-4da6-9f42-91be53a56fde phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:80d9764e-6a1b-4456-b554-30fc3f59478c phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e5827361-6483-408b-9fbc-7f795aba9b51 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c464ffe-dc6b-4ccd-8125-6251cccd5866 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c93a436d-5c20-43b4-a330-e730e0a0d860 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec3cea52-2e9f-4c90-b86b-311209d92aaa phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23621fb5-5b01-41ca-9f8b-6158fc3b5ed7 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2be5d3ee-14eb-44d2-879c-60820343b9dc phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8377b2aa-bd89-4700-a4fb-cb38a17e6d33 phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:ea199516-ca72-403c-9e38-88b9eaed591d phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:61b7b294-0484-475c-ae92-a9d964e845c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:89fbd25b-ba2b-48e3-b364-3a4b232d2e9a phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5ab25ae3-56ec-4776-b5d8-f90d4ea961d1 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0e89bfa1-23c9-408e-90fb-98552937686e phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ed780695-c370-4002-a24a-1dada55fff1d phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:49f87ca8-7926-42a0-9e43-5cc7014e967b phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f48aacb8-c13c-4f4c-ae7c-e0a4168499a3 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2b74c2c1-5258-4a52-a2cd-12d52c13f334 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:564d9663-f7d0-4a01-ba6c-ad3215695db6 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:96218331-b860-4eef-a59d-16238af1f6cf phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7f79ec1f-f9e8-46dd-963c-bebf4042c2d5 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0aca305e-dc31-43d8-b174-ad2b9b6397a3 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:719d6b3f-6003-4be7-aa28-47b38b113772 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a5907c5d-c0a7-4b6d-bfa2-d478b2d39c88 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a28bb99d-7898-4401-9589-d1f48ade52c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bf9fc349-51a8-46a2-855a-19eadd3ef20c phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3061a7a2-7ee7-4c25-a85b-f3045bb19385 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d3c4126-8c54-4386-8b09-059fa02cfa9e phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61625828-7b0c-4819-a8ea-e674a9f2e370 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3186ffb2-39a3-424a-ab71-4a79aa3f4c09 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b25a8fcf-b6e0-4462-afa7-7084e0142fc3 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:59a0c841-9ce9-4132-bc8d-ecb634ffd58d phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f6251809-c5e1-4bd1-979b-936449beeae2 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:78281843-121f-45e5-a14e-5606719c55b8 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f34da87-9cb0-4b77-b1f2-6ec14b9d5479 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d2fdde6f-285f-4ff7-a907-1e61ea6fd1e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb329b9e-7c21-4d91-b6fb-918b7432e353 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c54b6fb5-ce60-4c45-9a07-72d53fe8ad32 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3142b22e-b436-4509-84fc-1634516f27e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df6a9056-ab55-427b-9157-e0ba4c57ac7f phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b262cd7-43fa-4bb0-99d1-f009aa910516 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bc7ad3ea-57d1-4591-aaa2-0dd8c1fd46f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:80cf7055-dd16-45c9-854b-21ca219a3df8 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55fd02bb-41dc-40c9-b4de-8a18c5027935 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da771f30-c5e2-4404-b71f-df71bc98b11f phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0b12984-7a5d-4e77-85ee-c88d2461f8fc phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5a92daee-70e2-40b1-8807-1a501ce4b6a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:064001f7-d588-48b7-af69-e1a9c5f10a8f phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7093742b-e6a3-4ae8-96d9-6433f8879f37 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:785460b1-6a39-4ca0-9d8b-bcac08057efe phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:47a6fa0e-630d-4371-b0f0-0f3e3b7e02b9 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8904a8f7-2047-4576-a057-d1c7f4963d66 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d7f514d-e5d8-4551-bade-81ea87903cde phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:507b514d-9c3a-468b-b218-bbf3eded50e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:44d5c616-87d9-4d44-aab0-7679e1c6b781 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b04071d5-cb98-4a04-906e-fc565504bbba phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0cf8d8da-fd97-4153-8249-fe95d35a5c35 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:001d52a1-a6de-48de-9e25-13b05a01142a phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d952633a-c3a9-456b-9296-fee6fc7ea7bf phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cca5f55a-4024-4d1b-9071-85003f749780 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a83c7e8e-877f-4610-aeef-a8b78b9846e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e573758-3e34-47b9-aa02-56eb27aaab80 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:67dad7b6-9573-4813-be1e-9e293c1084ed phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b5d1b023-4b80-4dd4-9be9-711be8d03d4c phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c32315da-ee27-4ad3-836b-ebbd53d07bb6 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:92af635e-a978-4a60-8093-ab546fa88409 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:97d12816-a030-46b6-a10d-45dadda1f216 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:994f7646-dee8-463f-95f7-1ea35b07c373 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c7a7eee-b41f-45f3-b3bc-883c4aa714a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f9801f51-963c-4998-8845-3682d2ee1cf1 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a7e1c9a7-85f1-40d6-b132-ee3f30164f00 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c40f5396-4890-4c81-8e0c-2bd4918a58de phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e6193ff-3ee4-4c64-90e7-90204b5dbb90 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5932c290-201b-4084-a964-ecf627dcd29d phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1838e5af-e965-436d-9870-10ef68738337 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:babcbc34-1991-44b3-bc3c-dc2a1493255e phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:90c55de7-b67e-40c5-808c-01e217309d14 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36555e1c-caba-4484-9099-566e707056fb phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5838c757-62ae-48db-8bb1-55f6e5ec16bf phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0d5ac4f4-8dbe-470d-a9b5-c13539371d76 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:5620d33b-83a3-4785-96e4-cb16ac266dc2 phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:26824676-696f-4b04-af18-63970e7ab67d phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:992a49a4-522c-4868-925e-44dddf31fb1d phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e1c792d8-b340-4bda-a61a-948b189e90c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6d352cd7-725d-4e4c-8425-e71efb49f56a phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e6d23a18-64ee-40d7-a66d-ab896511a9aa phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a14d6787-e9df-4031-8488-e8bdcca51cf8 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:dd4ba801-551c-4aa2-b6d1-77f3c23257df phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5448f0d4-5a27-4070-9775-6fed88fb21fa phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3bb4c1a3-e700-4ef1-99b3-13eb4dfc07db phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:99edbaf1-c154-4d4d-bcfd-5a502dae9d16 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b9fefe3c-3fdc-404a-816f-bd7afef990bc phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:39d897f1-b7c6-4689-9f0b-fe1d5fb0c33e phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:df2557ba-c143-4726-97d4-487cd5ba5215 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d59fe6e2-a41c-4ea8-a3b4-5e412b04774a phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9210eb7a-37fa-4cf4-b25c-899ad53590d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b8728d4a-4b88-4203-b58e-f893c0908871 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cfab4ad5-e950-4dcf-8366-819f3ab772f1 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d4df14fd-e79b-4120-9e7a-027cc07ec4a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5162a9eb-6d86-4186-96bb-ef4fb6432d7f phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:749770dd-fea8-49da-828c-f0b5c27a64ba phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:08b2a612-8713-46ae-a04b-53b3cca27b72 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20ad92ac-5928-4361-96e5-261bd652eaab phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a3c40bb6-4d20-4737-a4bc-fb0d9adcf290 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:033f797f-7786-458c-a9c6-27d26aa499ec phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8e36a9d-f538-4b75-a8a4-95503e54c186 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5ba4bbf1-6214-482a-b720-b4ace5b86230 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:212749e3-bce4-4c43-b6fb-0d58dfafb39c phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a6c7ef5-43d3-454f-b741-32fd5837d095 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df7b1c56-05a6-42b6-bfde-79054099290f phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ed2a286-92fb-4296-9716-1dac0435cefe phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:38f3bc8e-180e-4ee6-b33f-12f6991a5165 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1544f55-cde6-46ac-8bdd-263a2d376ce5 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36e66ec9-ead3-44d4-acbe-06d4632b3220 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f21749dc-16f9-454e-a8e9-ebb836ef1056 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d5d0cbe-d40a-4992-90ba-64d900b82b88 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:77a68422-a5b6-493f-b65f-da3596ce0380 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:27b0519f-7b34-44d9-a436-444557cf0537 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3079ba21-238c-4a7c-b7ac-677071c9aec5 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46a498b9-d3d3-48f9-b0da-c5fcc837f3dc phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b697b64a-56b1-4f33-b141-84c70849cfd0 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:81782502-165e-40e3-afe0-737ac5c4e48c phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6a53671-f59e-415f-b66d-d6c75197e2b3 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3971e3bd-f8b4-4994-9a3d-475e513ea3c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7f3a733-af77-481b-b1a2-c3782cdc1455 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:58522790-bb7d-4d7b-b16a-2fcbaff17ac1 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9db94df-61fe-44d1-ad88-15074516bafa phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:64caa035-9da9-4105-af00-385b851d2e23 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e51353a-4a34-4c1d-a984-27e052aed95f phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33b4e2e7-364b-4f25-a5fc-cb57b8246280 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9dbae857-e0dc-4e4b-9cbd-1c572d8999bf phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:791ca1ef-a15d-41aa-9763-3fbb5cb734eb phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8277405a-81a4-428b-9545-7e2ea415230e phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cb2f730d-e084-4c8d-80b7-7ece0c72dc35 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:409fe36a-3a92-4743-b88b-5b51823790c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3270b7f8-9426-4a4b-961a-1f5af4ad204f phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da5b6d31-97a7-4e05-8ab4-b0c8e47fa8f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5639ab6e-1a7f-46b1-89e8-d027dec632ae phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7e87f11a-cf8f-4734-9142-190c11c8ff9a phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aee73857-655a-462e-9a5e-d5c702008294 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3cff6613-32ca-4768-aac4-8d7303144b77 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce8d2799-d2a7-4547-906d-9961254c38ef phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0123cab3-fdc8-41b2-90d5-8c1a9f091c01 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9adefd3d-1685-4600-b965-411fd208c3e1 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84f4e67c-6052-4388-9b16-980c8228c808 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:591e6256-66b7-4fb8-872f-85adf5d2fcb7 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8ff8703-3ea2-422c-8aab-4c4c4f6a459d phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0215a450-1cd9-4bf0-8907-1a20fb842af3 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5bfcde93-d679-45f7-80b5-bd612c5d13dc phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee1c61c9-c6a0-4316-8986-a4d058ebc8a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:290496bd-f94a-4d06-8351-3597e816047e phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6cd29716-db8c-4c8d-b72c-c61b226b9293 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:83e3ed23-7226-48e9-bdeb-4b894eba438e phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18f54692-1952-4d80-a0bd-ce92ccf2ee5b phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:982f78b2-9cf4-4982-9998-cced8da8bffa phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f436930b-2ab9-485e-8cac-0bec6a6adf32 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7de67c28-1882-48bb-9373-827cd9302661 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2a7c0018-b58d-4c9f-8e3b-5ed664989632 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:21c04267-06a1-46d0-a426-0bca485adb1a phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6f00a1d5-0c1d-4927-b69e-681e5205f2fb phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:beb26d87-fc2b-47c8-a03b-a347dcc46ed2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7ba1a99b-8a2c-4719-9798-153ba02a240f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c940e847-28d0-47d0-bab6-1ec616eb92df phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7b7a73b7-fd22-4bb2-8cc8-f36e22ceb1a9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8f09629c-bbb0-48ca-902c-d9cf9dbf4355 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fef66d8a-cf78-4f36-ae4a-4b0d0bbea75d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c307b78c-6c5e-4114-a70c-91e8ae9b97e8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:89d904ab-fe86-4ed5-907b-56244a6b32ed phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f888022a-9a29-4600-a043-f761fb231da6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9e1af90c-6bb8-4a40-ab11-8d4adeea93a6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ef48201c-5f51-45fe-8f58-dacb58a4c93a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:664216b8-0e12-4378-9de8-df9ed722c604 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:65e21bf9-2796-4d43-89a3-46f48d9797c4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:23e27ff1-c508-49e5-b440-fb1c0cd93005 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9e5310c2-97ba-4a73-a387-1f4a635a6790 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7731e42d-e5df-4f1c-bb62-537d7df5a6b7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:48d32816-5dbf-42f0-b039-f01515e553c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:980434cc-9a6d-4cce-bf77-86e400f78c1e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95f0cc69-e327-4f86-9d7d-1c61006a4a1a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e916f091-01e6-4f86-9527-69a36d57ba53 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87b7b3bf-49c2-419f-b84a-7d083e12a2a7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:072d2bf9-edaf-4ba1-a2c1-5b7bbbd50f75 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:86fe2a90-5f24-4c0a-9e9c-4701eedaca6c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:41cbd4a8-0b86-4cde-8ef4-0892f1b29dea phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c7daecd-8f41-46a7-bac5-41d9c77a8af1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb0d207c-50ea-4259-a4a7-6b541563518d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4375acec-90cf-45cf-9d2b-7d0839da9979 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a9e8d262-609b-4902-b5bd-8d4d38777e5f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:80502302-d822-440b-87ee-904cb5c666e6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dbd9382b-575c-47e0-bc7f-6044bfabe72f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea11ebe7-42d3-4598-8536-2b303c14b4ff phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fed5120d-94d1-4703-b230-797c83dfacb2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:51c406d8-ffe6-44f7-8f3f-8b3fa8adff11 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d7b6de8c-0f96-4ea1-a82c-5fd7cc069b9d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f5b1734-a4a3-4f44-966d-a04ab315a23a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db6fba24-c25c-4d53-a543-8d21f4ca8bf6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d921ee92-511a-4759-b095-1187a6ebea24 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c523492-ab88-4718-ab8f-40c24c4acdb8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:22ea23f5-4f97-42c4-a02f-dd6f3fdac256 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b3a8ef82-0345-4e9b-a042-357db5278b77 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2f2799b1-df5b-485a-993b-a2b29c0d3ec7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:87d08ff8-0b74-44c5-ac11-d986690ddfb0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4de079d-2de3-4c00-b633-00a9df824be4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2002348b-bad1-43fd-9a96-d09c9855f328 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d61e641-47bc-4694-b7ce-54be54bfa28c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c15eb0bb-d8f6-4811-b18c-48c06d2399f0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:86ce44bb-c4cf-4d72-b7e1-42dd236bbd9c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:201431c2-0c79-4651-8e87-92505d8c9de3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb62811b-e806-40ce-9a12-fed7c6901e07 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4e34da7b-47f1-41cf-a00f-387fa9ae7711 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f8bac4f-307e-43f7-927e-1e622df0551a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:68620bd7-3f02-4c07-b726-09a89fe03708 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f71f3f42-aff2-4283-ac03-ea4bdbd011a6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:446ce3db-0bdd-4d57-b653-68b39731a24e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:89421838-2a17-4971-b6e6-6ad4c0cc74d9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:53ae1225-bb2f-481c-a335-24825e69ab90 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6cf74295-5f37-42f4-b095-933dd21a0516 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d4044c68-c04e-4648-a01d-5a66d45ff737 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:43eaae2b-64b5-4bfb-b220-a9d10e22ca0a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:321a83cb-4f85-4c88-b2c7-5dd7c4fc774c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1663a0cc-cc12-4a13-9602-87aa042347c0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18a02916-6d55-459d-a432-d04b707e3746 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6cbc9506-2e75-4da4-94ed-1251649c1483 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b39ff9ba-b2a8-4bae-8567-7dece10ba8e1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14f149d4-c43a-4356-b4fb-aa3b24091235 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:54e9467a-7f00-4284-9965-4b5db608135d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30009d61-ee1d-4ccc-8647-1f544fa523e8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a543215-3eff-43d5-97ca-c5f0773c184b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bd449fa5-ae3d-4bea-ae49-20a1d7af0bbb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df456235-037f-4dda-9e95-0df99dafc8fc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:64364118-3640-4171-aea7-4e70a5f2a0a2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:8785f3ab-252a-4cad-ad8a-6de3ab712871 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:69249956-3251-4373-91f7-3dd5386d504e phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1a36a7c0-3725-4502-9752-276774b54d2c phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:16cc6cba-4844-461f-89e4-f357bc883731 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c45f8516-3a75-4e63-ace0-3347a683f739 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4111b4d4-9648-4530-9084-d0de49258cbb phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b2253222-cf3e-439e-8995-8110c7d4956b phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f151576d-4eaa-4a10-9239-947f5d6a0e86 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f77150a6-a976-4d93-a897-e919595b4715 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a7d4a587-20fd-40c7-93ac-ee0242945bf8 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:194d709e-1605-4418-9b9a-5e67de92d2a4 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b129e283-ec3a-442c-b879-83913119c089 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3e55b345-eb1b-4c44-b700-2609b38cf9f7 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e3d70b4e-56f4-4e86-b138-a51690bf6f1a phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5a34392c-086d-44f0-a2f1-3f5dfc8a2178 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d58f7819-7773-45e9-9650-383bf4e5dd45 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9480b0f6-3e90-4223-a617-4f8b5962e933 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a7547938-281c-47d0-9ffd-cf7cd7e482f8 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:280bfc7a-cb5d-4665-bc3c-3b2faf380e7d phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1e45b179-8503-4b97-93a1-3faec250b23f phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3cdc3a66-55e3-4ff9-b1b0-b88b91864d90 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:837c690b-142c-4ef7-8010-412243245f5c phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ec552558-f574-46ee-8845-fba1e1554aa8 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9ace8eee-2c74-4c85-bc2c-619916ccca43 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3058adad-c02f-4e16-9712-f937ea26fe07 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:57f3072c-5eb8-4cf7-b2e0-d3bca047fa3e phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6b436098-39b9-49ae-a478-c2b8a6f154af phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:51a4d468-1c3a-422b-b82f-53e24e04ae80 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d76c6185-bd8a-4f51-9a21-ab763ce113b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a4741ef3-60fc-4c2d-8e48-f7b1fc7da9ce phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:289c0669-4875-4c9a-a267-b371b5afa3b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:27d74cc4-39e7-4ef7-937a-057537177467 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fad3a279-3952-4375-bccf-103316ebb45f phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1aeff261-3c5b-4727-8419-3abfffd380a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69459f3f-2381-466f-ad7f-51ca97745421 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7421128d-bb6b-468e-8914-c847677a3d13 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4e361b47-9175-4266-81ad-99d358627486 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9cc0b211-bbea-46b7-aa11-c31f14653c44 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5165b3c9-563e-4eab-91a4-a1fe98d48c2e phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b0b5a61d-3926-4c0c-a117-8bd8498e3957 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f30b781-44ab-4fba-9ca8-0e9356b40785 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3c15b21-6c64-4342-848d-d647b327fe2c phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:74d010a2-5df4-43fa-bd71-e52324f25070 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37089dc5-86d6-4b52-a898-75eeb88c943a phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac753d1a-b195-4ab0-aba1-4b3c6004ebdc phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:60aecc0c-d3b3-4d44-8f07-349cd72ae348 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:54f25e42-c86a-4bc8-bdb7-bad640af6b48 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5756155c-53d5-4987-98a8-1bf39ba756c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d285011-2fe9-4590-a896-dcba7ed601f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:48b1145e-53b4-4fb5-ba23-dfd644715bf6 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3277b33-a797-4940-969d-c0b02dc24da7 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2fed3364-bbbb-455a-b3ba-1e91425b4e60 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1106a19-b842-4f22-ac4d-4058c8faf5ec phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb5acb06-d570-4191-9536-3b1ad7c076f5 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f091006-1e85-401a-8c2d-eb7730479ca9 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:588f2ee9-c1cc-4b26-8112-ea7dc16347fa phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d190d2c1-b2be-4bce-8b76-a4eea41a6d24 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9551429c-b196-4ca7-93f1-a8a5b137edf4 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7477786b-4c72-472f-9d52-fa9601214a21 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bfe4eed8-8967-482e-a9f5-faf8308fc109 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0c31ca04-537f-41ed-941f-6b06a41de8c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e6f1d8da-1d36-4135-88da-854f701df8d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:483b358c-a48a-4485-bd16-8ffed642dea0 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4b6d4b7-e79d-4eea-a1db-a42f65b14202 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ddd48ef-54d8-4a8b-990f-35e56973ee12 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5688d304-c0dc-431e-a664-e5248e658ebb phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:426c5384-6144-4985-8459-737627945fb5 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5b1f3d18-33c6-4da9-a60c-b0d845a63083 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b0a16458-f264-4922-b2c2-091783c0b93f phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:52035226-63ed-4d6a-88fd-28d8893b05ac phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2111830-f0f0-41cb-b900-0813f2c1e8c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e009b261-d75b-40ab-81a6-ca499648ff88 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f24f0ff1-9353-4727-92dd-ecf8a25ab5a0 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d46569fe-e9e2-478e-a185-f4aa6df73848 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce37b2b0-25fe-4d0e-b807-773665c2f734 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:68ba3fb4-1c0c-4581-a8c9-38d897e4aad0 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:140d7c67-b811-43b8-8721-2a9d91eb8806 phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6585564c-d140-4fc2-8e1e-25e74d789277 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:eb54e987-5897-4137-a6f6-14f48b9371b3 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:82b75622-0908-46bd-b4ce-8145aee462a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:30d31935-76d3-4e7e-afdb-ff5381aa00be phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4554f4eb-8e3f-4ab0-bcb0-01e01cfa7bee phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:081868f0-6c64-40ea-9f91-290bd77d3caa phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ffb5d271-46c0-44a1-81af-97faa144aa50 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2c650f20-43ac-4e49-82b0-0852661e95ed phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8a5e53ea-fc19-49e3-8a3b-bf6ec2efd4fe phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aabf6dcf-39a3-4f5d-a5df-8955c4036a6b phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f078bc36-8d44-4860-89f2-9a06ba375327 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:dc4deda5-8975-42e4-8c98-ef83a945b79e phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:967a2378-57be-4e5a-9d9b-eefd6da941ff phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e59da292-e12d-4d77-8369-7c97818ba348 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f20d473b-bfe2-4c60-94dc-1e32590a9d63 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a304620e-0586-46f2-96e9-da7efebb8728 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4704baa4-949a-4fb6-b763-8c8b28e33edd phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1c5b5e8b-962e-4b00-ab61-12b825f71043 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d78773d9-0747-46a5-90bf-f657da91d4b3 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:445ad695-5528-4952-8ef8-dfd0171371e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:09170e1d-53c2-4d23-b8a3-c5223e9ab5ac phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3fe10220-558f-46c0-a867-088d467e0192 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f16eec6f-6bc4-45cf-88a2-6ee063821971 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bab619e7-7207-4e8c-bcba-1a64268e2f77 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ecd05327-d517-40a5-8798-b293a1dedb80 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1608313-7ce3-4233-83c9-904a3be413ab phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:03da402e-6e9b-44e9-b899-cc249b8053a7 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5aaa950-0db2-42cf-9e90-7330e2510ea7 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73b6972f-cde7-4cf6-83f0-d81a2c53cb65 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6833b3aa-1fec-4421-8847-d7d49f57c9e3 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb34e089-f5c0-4ca0-9d71-ab78ea55f7f9 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37079b16-c78e-4211-bec0-fe000956ba45 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ffb85a8e-389b-4061-b8e7-32db652bf07f phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9620ad76-1b27-46be-a8eb-badd6172d1b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c82b36ae-4309-483f-8fe9-4fab29653e68 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7a86097-5c2c-47b5-bbf6-d24d42013ed3 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9038f0a2-3654-4de5-a4fc-14745169e5d1 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07c2b279-19f4-42b8-a84f-ec329f44d7a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:977bb7f4-4c46-4cae-ab10-d6b63ce67634 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a7cd354-464f-47fe-8f6c-6469e0f1f4aa phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5165552b-459d-455b-ae5b-71d128f1df77 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a11e94d7-f77d-4328-84c8-322841c3133d phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:53ba97db-0107-427b-93cc-c06e5eedccd8 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d6ea765d-de92-43c0-9978-0bc98836604e phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d6becdca-8c5d-434b-9d55-b7ebd88420d8 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4392e4aa-7cec-4f6e-8c9b-500168c2a3e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b9f1dcc-b65a-49d3-acf9-1a59f1b36b08 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d738c3f-7354-462d-9bbe-06c25aea0ab5 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5aa7bf4-b217-4f79-9eda-7fb22ddb55a9 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bad3ab30-880d-458d-a0d9-ad2ad19e6712 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:419357c5-03dd-4c4e-b6dd-324c34bbad52 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0cbf1ed9-e711-4cd3-9ef2-7a589efdd223 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:98c91888-e1ae-4688-b040-b17be874e735 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b217879-36e3-4e47-ace1-bca55cadc8d9 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc1eb65c-ed8f-4cf3-9dd5-3654d0752751 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45e7d7b4-533c-4e14-b31e-c92ecd2702d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e0742b2-d911-4712-b319-a6a899a5f48f phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ccd535e8-f1f4-4434-b822-5fa0eb957b3d phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9d6a1bc7-55e6-4b77-a413-ded2723c6c5a phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a66824c-5b68-4336-9138-8f1a970e4d33 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70acb90d-51c6-49a8-8067-a14fd5cdde2c phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:857e1544-c500-4e79-896f-ee4a7cf3090d phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6fc389a-3a6e-4e78-8de2-c6213d731c58 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:24f03dd7-c5b4-4b5f-a233-f876da823c02 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a7cd24c-fb90-41a1-908b-9f1abfb7ad13 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cbab7cab-af32-4cc6-8c44-e5a274d4e3cf phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93fa901f-ea72-43b6-abe5-0ae0caba41d1 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:352476ab-9d78-4342-b8cf-421eab26c1a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:278b2254-247f-469a-853e-e2345a13209a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ab166af2-df4e-4df3-9228-48dbbe4b7708 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3cba99bf-d934-4c9c-9590-61ccc81e0504 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:848223e1-587e-4412-89e7-49a8335c390e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:558e9544-0be0-47c4-b848-6c244a5c3e96 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:918f7c85-12af-443c-a276-da72b7d06915 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ab2bf54d-c991-4615-8421-a54586ce5b04 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4eed0467-d3ae-411f-a270-17cb0896881a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3603d52e-b7e7-4f72-925c-612d8797c645 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:95ccf620-fe7b-4832-b195-d7da83da0625 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f394fe90-a7b1-4f5e-a82b-5da38d09e864 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a604e39c-8f50-4a6c-ac9a-99051da1330f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bcc5989c-1776-40bd-8276-eb1d31f2e1f2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b21b7f4f-816d-4b14-b1fb-b3d612c0ca3d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2c5a2655-e5ae-49fe-b87c-3ba6177dc1d6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8c49a99c-6444-47ff-99e5-ffc852b2038c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:dbc80fe1-88a6-4019-accd-969febb4186e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1bc3509d-4e5a-4d53-a5cb-69595cfc18b9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7f004425-1bf4-4d14-b609-3cf1fb49c026 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a958805-ed71-4d18-b6b0-230a639dfff9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d35628ea-1187-4458-928e-eca57b5b627c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a7c9975c-1844-410a-9f87-2cb32805ebe5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bbefa7b6-df42-46c3-b3df-39738f381408 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ac4bde9-0288-4122-9337-b4610f1a3cc5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06c6779d-f3e6-4e44-89e1-ed24ac1d5a37 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b036cfc2-5eef-4cc9-809f-1d5a4b538188 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c17ba1a-7140-4d6a-a0ed-55bcd2866659 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:13082400-3259-499f-9ac2-cf6a97741945 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:052515e2-8324-4dd1-ab73-52d72edef4b5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0698bc61-84fd-46e0-ab61-cf20c6ba284d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:93b0a8e3-e4b7-4ea0-a739-8b8c4fc30b03 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:96c1dbb9-966e-4749-aaf8-5f34d72ca113 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f94ddb9f-f44b-4bb1-901b-61e186e5bfb0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b6855175-fed8-49ba-96f5-61a732b3e4ff phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:94af0f1e-1e34-4389-bf7b-9a8e325297fd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2b7819c5-a2cc-412f-ac7d-6a5b8cc72fe7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e7b8cdf-9058-40e1-9606-245ba286c545 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3254ff66-cf14-4573-a478-f3d495badf83 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61d6c677-5ed8-4fa1-b1ff-bc077ed07092 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32627616-6b87-4adb-804a-d972a6180512 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eba9bb43-4d38-40ec-9256-9097eaced4c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b017e346-f67a-48f9-9ea4-4c98313cd638 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:702072f2-8399-4f90-800f-4053b71506a6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9663b7ee-4c53-4757-87a4-e69fcc7bd193 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0f4433e1-c1fa-4a5e-b42e-5857f9d390ab phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8007d090-747a-4ebc-817f-478c84f35e22 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82e5bc33-f38f-4870-8272-f7c9a200283b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dca3b1b5-76dd-4f0e-a488-b99e96f719c3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8bb307d3-34e3-437e-b4cd-a595897a6576 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:dedfa835-7055-433f-9b8b-2c094a30c705 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:149a1988-b618-47a3-8f6b-d0ff2480663b phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:75914c41-19eb-4022-ba56-fd0ad095d699 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3512cae6-2b80-4b67-8269-cd41438748ad phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:58174efc-3bee-452d-bab8-5afad3e01267 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c78ac90-e60e-4198-95c4-28a254d32e9c phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c51c4bb8-4198-4912-90c2-55888eab390a phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95df377e-e6cb-4afe-b432-bb2af76d0738 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0df4032f-c54e-4322-9ebb-650869dc0851 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:65cbab18-aa57-4344-974c-bcb6580bebf8 phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:b504dc5c-ea7b-403e-8c32-384620e1fdf1 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:91880a84-91e2-4a47-9d73-cd85666b0992 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cf029f3b-22ee-4cef-9512-bc4bb0f17a5c phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3d8dccd3-a035-4003-a514-9df971b161f6 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:adc682d5-5d19-4b2e-b949-82ee4bd17732 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:17095b90-bfa6-43b0-91d5-c542786c9316 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6e5ccc24-3bf3-45f5-96c1-bb112c690a48 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8e6068da-b148-4be2-b9d6-9a302a4772a1 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bfd34eda-ea52-4269-9ab5-fa38909c7414 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d691c691-be3d-4c57-96d5-4c6e7dcab360 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fff47448-d2ce-40b0-8733-e98de5ca9933 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:efd047de-fe6e-4f12-b5a8-7832b8e966c7 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c37feb42-1066-4e02-8306-2be9b54f12d0 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f7f7429-5d3b-4e7a-94d2-5eb19fece3ac phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:253fca4f-a9d1-43e5-b256-9cddd89232e5 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:206ac0f9-749c-445e-99bb-30da73eab097 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:967767ed-64f7-4f7f-be3f-11838aa04230 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9d8d4da-6f5c-4464-b884-3e1eb24630d1 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e207930-6ad4-4293-b2a9-20563a8f6834 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d5cb32b-aeef-4b05-8d3e-507f5e50f58c phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:79e2fcf8-09fd-4c4b-a26c-c0dec2df11dc phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:89aa03d2-e086-4360-97d4-c9bfa97ecc0e phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ee353b1-8d60-4b80-ad35-f2ff3abaea4e phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:df95dfed-b62a-4a9f-ae7c-41279aa6312c phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9e85d147-a2a6-4db4-92c3-b1700ad9e210 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3dd86b7f-dd9f-4445-85e3-d4f37e954ed4 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d51fad30-bab2-41de-887f-195206c13ea7 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ded7d67f-7a2e-48ed-a2b4-769c29afbe95 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6fea870b-45a5-4e44-bf4c-36cb71c33887 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e23d8213-99ea-42bb-aed9-4bd54e408b21 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f76a694c-bf67-455c-be0d-b138db5b4652 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:00a900e6-d25a-47c2-bbb0-e1ffeff4757f phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a978180a-1c2d-4f4f-b097-14762b75a7cc phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b341f9d9-c3ea-4837-9e7d-a66357cec23e phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1875b44e-26ec-437a-8f16-726d785750d8 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:77eb6ee8-cd8b-4068-800e-a54876eea605 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ace1c418-8649-4726-927a-98fb04905e11 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31feb70e-5060-485f-bc19-2b300dfe5ced phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:745befa7-1ecc-4393-ba6d-d2192c5e6f44 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61c1368d-720e-4aea-9acd-18347d70a255 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8818e8c-fddf-4967-98ef-2e5657fb503b phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:48fddbaf-3e61-4819-935c-ed51cd635cbe phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d021f2e-8bfe-4886-ab9b-0a8837eea687 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e57219a-b04b-4a5a-9923-cd0bff537d3d phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0853ad5b-2f23-47ef-ab61-14a33991b012 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3017747-f881-4839-8b75-53b8ef6b5f42 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d01a109b-9ed3-4f51-9990-4a0361c88b08 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30d1fad9-a2bc-45ab-bf5c-2b04c74848d8 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a9aa0c17-a467-4af4-969a-06fc0b62a19d phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a2e08811-a94b-4a89-a364-79877f48b646 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da45490e-e4c4-49c0-a087-a73aefc31cac phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b204e7d-ca32-48b0-bcf0-6a19e7e71597 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:81d20cff-169a-41bd-b4d5-9e84c5905dc4 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a747fcd1-6000-49c1-b2ac-a052f555f659 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dda63a19-ff45-44f8-8a08-8eb89950d1d1 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c474e25d-6b83-4914-a21d-d3a188fb192a phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5a76a5a-9b7f-4987-bd23-4211c78d65e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:13978642-5e9c-49a9-a2dc-f93067919c6d phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:380b558c-aad3-40c1-b2c5-8a7163c51865 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f40d3c92-8383-44bd-8b7d-4dc9ead2d72e phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3956af71-da6f-429d-a55e-767b3a03f1ea phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32794746-db55-412f-bbb8-abb1acf419b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1250dc24-925d-4254-98dc-5e724d0b1780 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2040d8f-9720-43d4-bdac-66310ab6c8c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5af5e1e8-85ad-4e38-b7a0-2f9c93dd2161 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d33decf5-3a92-4d19-8d9c-32b333c8acf8 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5514ae3a-b287-4cde-9b1e-175655b77dde phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc202397-732c-4657-a748-dda088e93dc0 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cb99c292-0596-4ba4-a0b1-8a9a422fa7e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:e60977f5-8d6e-4e5a-b03e-47d99a771f88 phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:d230b25a-f83f-4aec-8803-c255b1d5d3c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:730e54f9-6572-42ca-bcef-d745e5fe6910 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:48ecdf36-dc66-466b-80fc-8dee8bcec5c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c94e19ac-f0d5-40cb-9811-89816d7c8fde phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4ba514eb-eb7c-441c-bf20-8a0f720eaad0 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9d318495-7656-4fda-89f8-d54b4aa1d42c phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:77d059d0-803b-4a75-8829-75366faf83b6 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1dac48a3-7861-45a5-b696-2fb5a505b4c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c6d29acb-a7ad-4860-867b-9adfedd9c96e phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3c8f10ce-4554-460a-af6b-453beb1539f5 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:16870fca-baa5-45bb-8667-2c60adc3f3b9 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5e113da6-c9f8-4ceb-ab6a-3b4d5b51093a phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:549d2e2f-4e61-464b-af3a-66d07c6e537e phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8028e8c-e1d8-4b95-b5ce-876b940bcdd6 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4b7badb3-a806-4e4f-8bca-bde914d4bd31 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0ca58cc-f733-4b84-b86f-d195d6638353 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f181d03a-2fca-4708-9fb1-8071ae5f0f94 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e401190c-b9a9-4712-bea9-d649561caed8 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c4572d72-3a9c-49e8-8c34-3b9fc8e347e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e26dd0a-6445-4fc5-b55e-1ec91b256866 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fbc420f4-c1f4-4306-8c17-e323779fdd80 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8df6e1e7-9ca0-451a-84a2-ff1ae2ce04fd phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee4b7619-ed67-4c9c-93d4-baecea1e568f phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dad5ab56-6b1f-4049-b07a-eb9bcbca264b phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e816674b-a36b-44fe-a970-7cf1fadb59be phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f144dd66-fc78-4021-9567-fc6d05efbb4b phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5895eb6e-1997-4690-86bc-e3f9a43d24fc phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d322eab-f8ab-4402-b1ba-44ef44735a18 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c73d3864-587f-4651-b222-4a33946e90e9 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:970e8356-26b2-40c3-b7de-70c543cda4bb phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f2192ae5-d9be-456b-8108-005fe93ffdce phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0c57022d-7bf2-4983-b48d-9703990bf430 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61d47135-230f-4881-99c3-e3ffc6e8dd76 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:103fbf01-4f5e-46b2-8e96-aa4a6cbed191 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17035054-a324-4280-a51e-74f3e084f6a7 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1877f1b8-45eb-4f0e-be6e-ec5274ed021c phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:553503a6-ff95-4697-9c10-890464f3ee19 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8eb2728a-0847-4313-9806-4ee156e675bd phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2155cf7-b58f-41cf-bea9-14e06dcdc5fe phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2fa67ac9-9cb8-4b31-920a-2e87473e611c phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed61aa3f-fdc2-4f51-a7e6-4c71faae8e70 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5200f3f2-452e-4869-909d-012c71c99253 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:092edc87-6beb-4e27-9ad4-e99f5ea012ac phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73835d0d-08b8-47cf-a012-5b9be6b04e77 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f72b0ad6-9f15-4b01-84f2-981b07a0c0ae phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c18ba7bb-e7b7-406c-b22e-25ff6925a38b phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0de8ae22-c18e-415f-9e2c-ce7b1c343cde phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dbab6eae-48c2-4335-9433-bc43772dba05 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:29859ae9-41cd-4728-8ab4-4059f6cc3b82 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ab575f4-4f5e-4126-978d-b83a4da607e5 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d531bbcd-6a9b-4274-b330-f0dccb68895a phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1129d0a3-f68e-44d2-b793-85658aae9eb4 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e866a475-4c8a-4d9b-8854-e0f398ee3499 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dd1a9357-b358-4d6a-99df-b41a7b2793c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9817da54-cb45-4de8-adf1-a621df457229 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c2914c86-9fa1-4024-978e-28b12e910156 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4a583be-5013-40e3-a166-583a3c821d55 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b063ea29-ae28-4c59-8673-89eab41f99b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57b06b2c-9efa-486a-890a-7f2df90a4df8 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b33cbf1-ece8-4781-939d-2561ee9a7f6d phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac8301cd-b862-4cf5-b871-af61832015bc phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e5357b2-28d8-4a88-99b0-4c0828e0e4a3 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:282be9ca-2ba4-44d7-9b48-46df007e5a4e phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a45c989-6a44-4045-86c4-7e56eaebac23 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aed31794-3b6c-43e9-ac52-77f3c63c3d96 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4acf1609-aa0e-4116-8470-3dc891526931 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ddc0a3d8-91a1-4dc3-b575-b2fa629a6470 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c6bccf28-d188-4398-abea-cf7a32624086 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea458328-df7f-4f71-8cf6-c47dbbce56c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e437f15f-ff69-452b-8235-c82520e2b4c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4040d26-e6c3-44c3-84ac-43e8bf0d5729 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:f199faaa-d785-4488-a4f6-f85c2c63cb20 phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:339418ff-1bab-41dc-af50-4cff1c3f411d phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:76d8e272-8fd1-4d01-a4bb-1eadcf255891 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f4de3372-9e28-4cee-875f-98b2c3aa3033 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cf1a2ed4-f472-48d4-9762-64910410dd58 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e47f82da-9b44-45cd-8428-31f06ca64fb2 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b31739fc-52ec-4259-a315-1f4180ec1c30 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fa57fd9e-eb0f-45b0-a122-22257b53598b phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b8fe49e3-ccca-45af-b3bf-bbb126e1de92 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:34b51a96-4f00-4109-96ce-3188b4b8e747 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:614cc312-d21d-4cfa-8a72-a8c843d82476 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4d68a242-4c85-4b63-9913-a111e814d438 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a7cc43c3-2931-47fd-bcd6-d090cf6508d6 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:300546a3-ae83-49d7-ac57-cc73579eeea1 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5cddb794-5cbd-4849-97e1-83e97a71c325 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:39411149-e7df-441b-be8a-dc71ce84fc87 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cceb11bd-cf2b-4569-8cc6-32dbe38e2445 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0c6af6e3-f902-472e-9985-ca234d92de6c phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:64ed32b8-e984-48b9-9661-bb6c2c3603e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2cd37743-683b-43e1-b7d6-a33dcfbdd297 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f9d0985c-4547-41c2-a3a4-ad305f4318a2 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6b241651-a61d-4144-bd98-900363e1a332 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:501be40a-6c2c-416a-8f78-1a09ca6574c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d3bd65f5-0a84-4cbe-b191-cd0ad41deb1f phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d9f69d05-19d4-420c-971f-df0c059876af phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:00813751-415a-4bb0-940b-e7362df571ab phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:15afba02-337e-4e4a-91be-6bb22513c96c phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:eba4dad8-702f-4bad-9de1-cd1d9e5443ac phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55064d7f-648b-48ef-a3bf-90a1a7a93811 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37f9f734-7211-4f07-b684-4d5f79011933 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b86664f-c807-4c01-aef7-e0e3c767d9fb phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:368d7d97-6610-4590-98a6-fcfcd867a19b phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e4d4ea7-c4c0-43dc-b133-0be046a1e564 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5632d717-71ce-4b35-a7de-863f0adb1577 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5597376-f171-4248-931c-158b60685f47 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73fe36bb-a92d-481f-84bb-03a044c3fee3 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9ec02d90-93f4-4bdc-a9b5-321e69061d09 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec2859df-99b9-4b29-8db1-8126b4fc4a92 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ce8ca57-ba24-4d8c-9bd6-736ac2726305 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4cb845bf-c6c7-48a5-a384-000d1638709f phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5f75a61f-45a2-4e75-b1bb-47557498c797 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d4db9c0-4f0a-4d9b-bf06-1d4ca0262770 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:28ae85a3-8ef8-4693-a1b8-a9e046695b88 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7adb7daf-73dd-49a3-a9e6-1c2219020e4d phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bf73e295-9c7e-4d96-8267-c61fa3fbc966 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ee3bd7c-03de-467f-9264-85f3fc89e573 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c9eda1f7-c0f7-4dfc-9a78-7e05894e37e2 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0286fbc5-41d9-4a9d-9284-dbbea37f9ef7 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1f6752f-4ace-4bf6-99e3-9a9e8df878a5 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e8cf43d-8410-4a51-a6d7-371bd6818015 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:37e9084f-6499-49a2-ada8-159578c4c5c5 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6592e044-69c8-4712-916b-c1b9de3bcd8f phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c414a719-decd-4c1a-8499-1bf8b1cb1a87 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4265e99b-593b-4777-82e6-1939dc4a233f phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a36fd8bf-9963-42eb-b20c-c5cd6fdf260d phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8500071e-80d6-4ebc-98ef-11be69b96a52 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:59087779-2a60-4f0e-b489-b5ca788edaa6 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b5cd97e-f9b5-4cd1-a3b8-328a3fc60a86 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e551e794-3263-42ac-b4dd-b0351ec44840 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ac19ac73-a57d-49e9-8289-2c2f65369ec2 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05967416-b04c-47c8-a9c7-faebd45c322c phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d768f82c-224b-4cd0-94a7-e4f7c837f5ea phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f33a09b7-1656-44e9-abde-4fdf486123f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18295b01-9c27-4d92-be83-ff2635c20057 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17c61137-d729-429e-9b2c-65b8b65fe173 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a050fb9-6a13-40f1-8ce6-69c8f660e0c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:872ea4e4-fee2-40f0-bcd7-d56f93a6c7f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:902caef7-b934-4009-b8e7-b32f174aafb3 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:135b4b1f-6dd6-4144-9672-e46856687856 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:94212672-c0c7-4dae-a43e-7c5389f99fc1 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:39a2f731-4260-41ef-9553-8562fe272995 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:27cdfd3d-dd6b-4cb6-81c1-64e2bc835680 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:629a939b-0d52-4cd4-b458-0e25a64a9a8c phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0cbb5fa-aa68-4ac3-99d3-3fa177d7d617 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b2fc6202-7787-4bd7-816f-e796ebb8f0ce phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32858a07-b32a-41c8-ac8d-70030cce149f phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75f21681-f67d-4795-944a-cd41790b7258 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:e6af855a-faa2-4d5b-9569-3d7e2cfdc359 phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:3e466dc4-8440-49be-a9bc-b9307d18aff2 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c47f2c65-0c75-4e05-bdba-3aa3f735943a phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:827d6d99-89f1-406b-b575-0658e6da142f phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e19b7d9-b125-441c-94d6-41de3a9983c5 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45791669-8035-4340-b67c-3ea65bace986 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:609cf3c6-ac3a-4371-b5d6-d6e990521ae9 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5657211d-2b46-4691-b5aa-3e538578ad62 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:e33786c7-4839-4885-a5e1-c639f55d4808 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:9b2b56b6-d74e-4003-a47f-b7f76c125fbc phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e6b95930-a052-4645-8043-79add459012e phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33d27c1d-f84a-43b9-953c-d9ecd03dc889 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:67571084-1822-418c-8e82-17952a741b31 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8bbf0fde-6676-4979-ba3a-430dafab43fd phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f9667ec-80b5-4569-9c68-7aad6aad5b80 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:10d9c02f-6ce3-4b1c-a454-a15730c22dc4 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19a06f3a-bf94-4164-9a72-4e04c5d102a8 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e6cfccf-771b-431d-b006-9e4a7d7804bb phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c8b28ed1-f596-47c7-ba42-543b1a13461c phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5dc0277b-6d9f-479a-814e-495a9b07eab8 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3192399-fc11-447e-8289-a8df0da09403 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01772a62-1ed9-4348-a889-cb3c6623d286 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:155c624a-ebd5-4c69-968e-afd36186042f phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc4ffc10-750f-454a-b102-6c359b8cc369 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9c0cd968-f85f-4042-a1ea-cfa314754d29 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:52f6763a-d654-4093-a77a-bcca3510c1c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7c38bf68-c860-445e-b60a-b27f4432a740 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8bd2731-8884-4ac8-ace6-3875903b6de6 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c0dc9f7c-2602-484f-a28b-822b2356ed1a phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1f62c19-513e-4b4e-b5e8-5b5bc83ef769 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db8e103d-bae2-48c5-a114-ddc892f66b92 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ff47fd39-083c-42a0-8b76-cd84e3976dbb phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da590ac5-4061-4d93-ae95-3ce6255805e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b60c7bfa-6868-4410-9a52-940353ec4267 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:293d5e1b-2c1d-496a-bc94-84048de87fe6 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b62b2f9b-1dda-4f8c-a616-e623656a6e23 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:08e245b0-280c-4ff6-9a4c-23ec7baf57b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fd9b529f-e788-4be7-a5ab-b6a06207c7d0 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b56426c9-450c-42b9-a300-0ef4c59987e3 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c4dce6df-5f13-41db-bbce-0ac0ddf58fcb phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2799e31d-32e0-4617-b04b-54c9fe0bd4cb phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:877a0877-01dc-4ef7-b193-fa721ee732aa phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bf708f76-319f-4203-a8f6-a391e5b74aa1 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f470189e-c330-4e9d-9afb-6e0d28880265 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d7cac7b1-a976-4373-b7b7-a330600acf21 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:52b08424-74e4-4971-a910-1c11f3a37fad phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7e1c0e8f-13a3-430c-8048-bc1e4951f0d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5b38909d-6c6e-4707-a898-9d1ecf226a9e phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cee09662-a3e4-49d8-93ff-4e727aaaa386 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5585b8a2-29aa-48ba-b1ea-0d908e1d987b phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:557c7462-cc9c-4e9e-81e5-7a74188c53af phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70645767-e7f7-4c25-8f6e-cd3683547dc3 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ed39deb-a8f3-49a0-b979-c87f031e86f2 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8ceaf1ed-1303-4e40-b31a-1826fa34756f phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a71cb0f-53b9-42ca-96e1-bafc81a5be56 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23c92255-0450-4895-b1ba-527f10f929b2 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5310104-239b-4519-bd0f-c39dbeb07cb2 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5acb8bc-20eb-483a-a0d2-3cd874b3f028 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9b3e5da1-e7d5-4978-bce3-588d21c614ba phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f239b4f-8b4b-4611-b2ae-b1fa1453ef9f phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3439088-79f1-43a4-b135-a5ca374f52cd phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca1a1171-514a-4357-a6ba-e33ad329d707 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f76b2aec-eba9-4f5a-8e1e-928a30a01407 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f921263-bf93-421d-8796-3ab1e52d2212 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:074919ad-3499-40ec-abdd-9a6fd212df12 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c2042294-cf3f-4e21-9639-2797e22dfe8b phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8be2029f-11bb-48b0-9a8d-da4c52ca9d69 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:633643a5-fc90-4255-8dfd-92f5b8af63af phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8feeedfd-1073-4c57-afb4-3c9f937d7802 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0aec712-e194-4ea7-932b-8f5b2224bda0 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:002c5a43-edea-43dc-9733-8b7efba5ec0c phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2221cab0-466a-48a9-adab-86ef0e746867 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a973dff-6218-421e-9977-5cc2549f0b9b phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:9177eb82-9973-4c24-b66d-a5979495c056 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:436a6e16-76c1-493c-9604-c702010e88b7 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ea2e52ba-5720-42fa-ba7b-221fb5ec42e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ccabe3fe-b035-461d-9a0f-b153e86db57f phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6c7109e3-c7eb-4e3d-b5a1-551893748b48 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:922053dd-fe8d-4e9b-8e4c-09fa828bed7c phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3648acde-44ee-4a75-aeec-906001310181 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:80d23ccf-7223-4601-8c47-50acb2e3cc35 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:07f67439-fd4d-441e-9c9b-3620ae3edfdf phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a3d709a2-b77a-42fa-93e4-52dc6d849772 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ffc725f6-039a-4af1-a41d-bff210006487 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aa84b1bd-b89e-404b-b52b-00e7c3347dfd phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c004d6fa-73f5-4bf5-9f2b-4da88d1f103a phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1337174e-2d2e-4839-a872-5e635d908a51 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9f9c3cdc-08ac-450c-8f14-d0f8a31613bb phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fb37bafd-a551-4d2c-b14c-45c24f7411b1 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:23bd74e2-8bd9-4c72-afde-8a4c5e59962f phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c0eaef27-a41c-441a-a9ab-7d5065ecc836 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:001a3106-b2e4-4e1c-8f76-5827e26283b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5d260ced-d824-40ea-9b69-78347578838c phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d514f981-b9dd-4ef9-84d6-445be3d5a3bd phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bf17db89-5fa1-4e27-a3ac-ccd846f2bd59 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9aa63dd3-066c-402c-967f-a5bcec884233 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c0d44351-14ea-43d4-b569-0c0f631c05a2 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ceeaa3a3-4217-4744-9cee-8116a82c9397 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17fe9486-d61b-4e26-baad-96b15f43afe6 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:153243cc-984c-4898-8a3d-614c2aeba95b phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b1597b9c-53f6-4912-b452-87e0a0ceaa6f phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dfea72f1-cec5-42c9-b599-d9367c940f17 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2cc04e49-b7a3-47d5-8c63-e34aa97d7984 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c808f510-dd35-477a-b9d9-cf80056aa68d phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ebb651cb-7f7c-4e78-83c2-8bb81a069d4b phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:384030cc-20ab-488b-bc5f-40e57f783ce6 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7f868b3-e341-458b-ab09-8fa409e94f0c phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35e7e3c0-7042-4dd8-93a4-f0ea6360a3e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b6c1f035-563f-4729-b2c6-ac3763063615 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2d8e3634-9b6a-4424-a6fe-ea59051ea686 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e1b6471-57fc-4ed1-b047-c6f77123c66e phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b207fe0-12e0-496a-84ea-f8d2b19b8aaf phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:284874df-005c-4b1a-ae1a-9a046333c81a phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66503690-0cc5-4d07-9d28-33eb942681ae phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8cf4ad3c-ef9d-4d9d-aef7-bc27fedb62c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ff5f4d4-e791-4803-9002-5f49474748d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5ae4546-83ed-40a6-afa7-cb3b3a7edc47 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36550dae-3cdf-4a46-844a-b62757f65986 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d28fb6a-3473-43ef-8108-7c4d6d8e18c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:32baff73-d476-409c-91bb-db6055cf7dd1 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fbeaf8bd-1b37-49b4-9b37-af663bcb3fb1 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:33df1557-c56e-4a72-a17e-180df6879283 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ba423b2f-c65d-4487-a016-c3d8c4ecffbc phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0a9d70e5-710c-4273-b600-f4a60ec27277 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:42b033ad-0b72-4c42-920f-1779624583f2 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f20dc0c-0844-4a1d-a371-fe018e2cfce0 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c267025-67f6-4f88-88d7-c4634848b4f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fcf11fbd-ac83-4882-9d7b-7b2e113207c9 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cbaa39cf-7a81-4f81-8849-85cc24b56e6c phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1cab0256-f685-41a5-8349-3aba04f6799f phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aa11e9da-992b-484c-a01b-3087496ae6c6 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4bbf9a7-4519-480e-b49a-a883b60f85e8 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:516266a6-00a9-40d6-94b0-e93bbbed8185 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a69d26f-5ef9-436f-8d39-72e58c95abb3 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55bc2210-b098-40f5-9167-bb0bcbbf96a4 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cf83e6ee-2aac-4edd-9670-c2f85acba8f0 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3a43df0-4a07-4a9d-a400-40cf40da703d phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d9495315-c760-4e57-bff7-e9b7e5b71f4e phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0772470e-1674-4fa2-984a-d1ccac87832d phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5427ca8b-dfa3-4cef-a654-7dd89173ecc7 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:072b0d79-f163-4254-807c-10c6788297af phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25c3e328-0d40-4848-bc19-b07ac5e8367c phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6306434-a76a-4125-a46b-4213abfa9afe phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:40300069-99bf-4962-bec2-64d3c393a0c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e1c985e-1c19-478d-aa52-c8b32ac27da2 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9af25e95-e1b6-420a-b36f-45c10e304c3b phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed61e88b-c7ed-4ebd-8c7d-89e8d8b55e76 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7ecebd0c-3bd1-404c-9df8-81eaa6769096 phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:7420ff9b-02ba-4de6-8290-a990204ce93b phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6f70fdeb-7329-4597-a4f6-f2ce59cfefec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:95255f26-183c-4c49-b0dc-fc7dd217a130 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3fb632b1-4e0e-4eb9-a700-12a620cddf73 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ed418c50-d67f-4916-bb90-2cf4382e3058 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e31e19b8-7036-4c5a-a0a9-4d3faf7d0121 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c4f543e6-fd62-498f-a163-2bab2e69bc2d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:64c49aa3-eee6-4c45-9e8d-ebfdf12f41a7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bd6a0986-5637-4b86-ba7d-e9d3a772f725 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f67615f8-d714-4e57-9052-64f5fac59bd5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fbf53821-c98e-44b4-afeb-0a10c54d061d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d63777a6-2448-4240-8f7a-3231946eb8a7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0d393979-35be-4aa9-9297-22372b39334b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f87ba2e2-ab2e-4baf-ae31-cd51eef15d33 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2e072068-700e-40e1-9f4b-af84df1d7fba phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9a2c60f1-8223-4c26-a4b2-dd2dff3b90af phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7cc8cbf7-b5b5-4a99-b0c7-b0dffc91d98e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e0e1eac6-9b15-4252-8a8b-7ab8358f98df phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:241dc565-275a-478a-a5d0-594f73895d43 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bd6d24cb-5cc9-41a1-aa6b-973028b3d5ce phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f332428a-7849-4348-8d32-408e193e1f72 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d58fb0de-8716-4a0e-a845-f2087105a928 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6dc94266-fee3-4d98-91dd-a073e51a5c9c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6fc3f24d-8663-4993-914c-e466712874ab phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a29fdc42-4396-4eb3-b374-3b3ea41195c4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f99fa72-8a77-4597-9069-a43601954a84 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9260b846-ddd5-46fb-b669-6ff8287a3f0a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc5d0e21-f806-4113-acf1-49fde5789dbf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a3374c90-5336-4792-aa62-91f35103475a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:455423d4-610b-4c67-bc0c-2e32286a91b8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6cab20c5-c35c-47db-9c41-c2137371b83e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1bb77ace-3c6d-4d0f-b94f-9131f2e907ac phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4cdaed5e-55c5-4de1-ad5d-2635d7836c3f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f409947a-0e42-4e0e-bc49-3203490f44e3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:244a3f67-2336-46ed-bab1-ec4f8abe77f5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0ff62a4f-b5e2-40e4-8f61-e303956b2402 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4ca05195-55a0-432d-b71d-15668fbb11db phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55b63cfd-03d8-44a2-84fa-dd6e11342833 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dc82397d-3317-40f6-907b-111148616f2f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1d62afb-73a2-4ebc-a5a2-a1daac63b450 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4982581b-473b-400d-9f87-b5770200d2fa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ad8903d-9211-46fe-9171-c440a3ccbc91 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6c997e46-5e09-4bb3-aa00-b70ebe0d6d38 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:07d9d2cb-b3a3-4b30-8c1c-bec0cb3f203e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:028ba9c8-a0e2-4c86-b184-7b055a338c52 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49f29793-bc84-4a99-a9a4-95c2b9c581e5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:58c7f1c9-8e07-4cf8-b232-d4abfb755741 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:79e85e24-f10e-4ed0-b197-7f6ea0856d37 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b855b59f-b2e7-4250-83bf-b832e4b3dfc6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:671f8111-057a-4b73-98d9-0a09408deb0a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:22d75e09-61f3-4d58-8468-5700a1d72641 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35d2855c-11d0-4157-8946-be5cc69860f2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b34a4821-cfa7-4693-a0e9-436d582128d9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eb17197f-d7d4-4d62-a6a6-e371e75b224c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1df3acbc-37c4-46a1-8e3e-d443e42a8f15 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:494aa38e-36b6-4835-9382-41ebdcbd5301 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:571d8e01-4f18-4610-b1e4-8519459e0f5c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e82f8f41-3a08-4afc-af80-c9e5438a6b21 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1017f199-08d8-4a9c-8932-e98006ec73df phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9897f9ad-4a6f-4da4-a3c6-a9205e8ab823 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7e58c901-072c-4317-89c6-be0723aa0259 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3376fdd9-e4cd-45d5-a2e7-f9bf899edb23 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18760b2a-2686-4d38-9a51-114eb4bbfa54 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d1921d23-9e53-439c-9543-5ad35d7772eb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:11b4234d-8cfe-4be1-b43b-b2821acf29aa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19d841a8-770b-444c-9a73-29916c01dac6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f04677a9-f73a-4706-9748-9b2385623a80 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:434459b4-5e46-43dd-bdb2-f97e75eafc87 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6dfb2df9-af22-41d1-a637-af72a3bcfc2d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8bbf6bd4-5a67-4146-87c8-ebea362f64bd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8e9425fc-5bbc-43f6-9cba-ba242c0bd384 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:da082552-4898-4176-99d0-5aa63a6eb558 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:91466afe-1665-4430-8875-ac87adb2f633 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5c27c3c-5dd7-4bd1-bb35-0ab2a85979e2 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee3bd10f-8755-415c-853f-f4b78a392336 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d0fd0a24-1b6c-44aa-9818-2658d6a914fe phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f91789d9-d001-4aad-9cfa-f40230874642 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:86d48cf6-3a8c-4528-909a-5d4a8b8722c1 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b2fd8c5a-ef7c-428a-9000-f5f3e4c86f28 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:2767bb48-6f44-476c-8267-57b027429564 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:27a85564-3a2c-442c-970a-9c9a102c756c phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:160ba101-8047-4072-8e68-cd92b03d0b28 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9a75bd4d-0055-4fd3-9511-b9dedd029b6b phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:711cced1-be20-4204-aa53-b80754d64734 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:af4097d8-fa15-48d5-9b97-37c725003f4f phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e9c6dcaa-d307-4009-97c2-a5b37eaef08f phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3f9d963c-54aa-4b49-9506-10eeeb68687e phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:411beb07-9d9d-402f-bada-e4b70aed2728 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:67a36e26-e429-42e5-b5d4-e056104abf4a phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:73acdb2b-d7fd-4139-9b62-79e2f67e1609 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8a2d9c15-7cf6-4627-8c1e-a51af800cc30 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:99a94384-ad1e-4c3c-9545-bc8ae71c862c phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:919b7e5e-089b-448b-be0d-20985f2af5fa phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05ab6689-8e10-4383-a6fd-0854af6a3cd0 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c604702f-f18e-4190-95aa-c89912c6c904 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e6d222a-4cd2-41f2-8f91-ff9e244a0a1b phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f36c2db-698a-44e2-b4ff-26f92efa380a phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bbf85bb6-d26e-42cd-a9e1-cedc559fc2fc phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4317dbee-580a-4cee-855c-d301b26aa07e phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c65b05ac-ee45-45fa-8996-6169e505cc5a phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bbc120d0-c1d7-427f-a60d-2795fca97c75 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c7e2733a-97d3-46ff-94cf-fbe6f8714e52 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3eef3d2-5089-40c2-8b21-d2b49d57b800 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5172c83-f81f-4c1c-a194-a2740a171872 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d42b245-7e78-4c0c-93d0-7b626552cd3f phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2742e3d4-841e-4f71-9d74-10fc2b986061 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a14eed6b-199f-409f-a529-83b26a4288b2 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65bf8abd-ce63-41d2-a349-dec18d61184f phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e94862ca-c2c0-4b7c-8ba3-ec47f987c9bb phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5ce058d0-ed07-4c35-8f5a-427a6441ee9c phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f9682d8f-d9e8-4aaa-9d21-7f3712ce3212 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b688910-f794-4cf0-a3f7-05a0c16a70a6 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57e9bea7-4af3-4849-bc91-4905a6fd1924 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:28c62e40-1fea-4878-b364-be4b51b9aa25 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d557b4ce-6df5-4c31-9581-785583d649e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1cdf51a4-8c19-4e9b-9856-6e786e5d1e55 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3216da69-3fca-4c8f-bd9f-bc277692313b phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eea67418-dbe3-4826-b531-a8b63a62e231 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7d4e84f9-88d4-489a-a51d-d49faed4fa76 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ddc4fe35-3f8d-4edb-b7a2-87849f611b3f phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5739ef4a-1a34-4f6b-9b08-99dbb903850b phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7525b3b8-df6c-48fb-ba16-b9050a725710 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:da09b70f-cdf8-4339-a0c4-6a7dc31d68b8 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61981adf-f1a6-450a-b426-6a7a248b33fe phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9bbff5a-1247-4b1a-a675-ea357b791904 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:21051791-d5d3-4d34-ab5e-be7a5c0588b8 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e9d24027-3331-458a-a80e-ebd76377eccd phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:31fe9662-35ff-409f-92c7-982f4f2bec9d phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73183a26-3775-4fe4-ba5d-594ed07d55ad phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f877e385-33fb-49e6-8317-508509276901 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2a621d80-05e7-4e64-ab5a-509f1738b7ae phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2911b5a0-fce8-4bd0-bf5c-203da56ee2b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35e59a04-04a2-44f0-a3fe-d7f40fe15940 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06ed0733-f7c8-4a34-a840-c6f66f36aa85 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1d0d2058-c4f0-4b16-bbe5-31753bdb66b9 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9ae0a98a-08f6-46ac-ac17-1918e2bfeeb8 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a33fa8ee-113a-413f-852c-a84e3c7c35d7 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3abda7cf-bb2d-43e7-bf4b-5fde0fabaa17 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:95c85f47-9772-49de-96a3-c49351605eb3 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f0a8067-ef3e-45e7-a9d1-0658a44f0ea1 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:892d0776-2087-4905-8bee-8e26ef4ca7de phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:450d578c-11f2-462f-ae64-880f5459b555 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:abd02b66-c354-439d-ab6d-e5afeddf92c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7a4f9e4e-6a87-4995-9f55-9c6dcc7bdf6e phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5e307226-43c8-425d-862e-471b2507af3a phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dccdb512-0aec-492b-8747-d218ca9e23a2 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e5b572c-5848-4e09-8b71-c1b7e90303e9 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c61fb902-2fad-4fd2-894e-c7dd0f8faaf3 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b42f6ca6-86a3-4772-9e4a-0d72f1c30f96 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:483123ee-bc76-4f59-930e-294547970a94 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:710fc3fb-9914-40b0-9bcc-3f439ff7bd0f phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:daf78041-43e8-4d91-80ad-3de0258cc3de phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ce202db3-452f-4c39-9b1a-7a5f4e9f5013 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aaf6d32e-4920-4ef0-972b-afccc5ad709b phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:a32f838c-c771-4ab3-b6a5-8aebeedd7318 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:6a38bdb6-854c-4c0b-9a96-de8b2ae68ced phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:96698b6e-672c-497d-9ae2-00a0b102292f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:59463c74-66b8-4822-af45-13adc3d20f6f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ad0f7d47-8b12-4e01-aeb1-c1341cd6cbeb phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:95b73c88-850a-412f-a3f4-00b9c7dec49b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b1ff3947-4381-4808-9fca-f34206f8cf79 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:07a562c9-20ca-472f-a2e5-002418e81713 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6e11a453-b46e-4311-b75d-6ba121ed3a3e phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c114e0e7-dd62-48f4-a86c-dc684221e44e phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:11cedf1f-55d4-4a2f-8d45-dde64aacee7c phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8385ee23-83cc-432e-8fa5-24597ebac73f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bff74bf1-907b-452b-b0e0-cb94498a995b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:287dc222-1af2-4de7-a6bc-d7e7a555b1b5 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7aa15208-5a47-4cb0-bf50-54bd75846d51 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:382cdf59-0e44-435a-910a-8fd33c5bfa5f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5bc866fc-9410-42d9-8f82-653d7b138b63 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d85fa9da-a059-43da-89e9-44ea20f1d36d phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4e0dfb2c-2fd2-4f88-a038-1026818971f7 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b604dd0-c512-4033-a435-fdeaf93051ee phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:75eb8ab4-8967-4f73-a3b1-323dd33f2778 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4bf6851e-a2e9-4973-9565-683d257d86c2 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0bd0fc1b-673d-4f77-b67d-1b157a26c139 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01eceff6-6fe9-4ae9-b9fe-6b2fe047872b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d265022b-1708-4177-811b-84b4f1456612 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b9077f0-6200-4e0d-8b1e-97eb345dcda9 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:671ffdfa-08a0-4544-a8a3-612b1e5c382b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f6aab410-06a1-405e-89e0-a3a4ea94ba94 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bdf54606-e26b-433a-88fa-83cdf4990173 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45a3d897-3135-4345-aa7e-b98e09116c45 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9dfad868-9a2d-4691-8adc-40dee5a1e309 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4eafde39-f374-4876-8ce4-76bcfa6afb7c phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9a7b9b64-f703-465e-a652-bab159e2a013 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:22394249-394d-49e3-9365-dc0d46df2f2f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65623d25-0540-47e3-b870-62a78e602331 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ecc4bb8d-c7b0-483d-9612-8f939f56cdd0 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:be9c547c-cc04-4c03-82bc-7c76582ec23f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7bbd1c43-153b-4ac3-97ca-f8905e974d3c phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e174a7d-ffce-413e-921c-41a8d679d59b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7b95e3fe-489e-4c09-a7ef-4728d2d916a9 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66c274fe-2b13-4812-a286-7f7ee8ec63c0 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3f4c9a36-a89c-4300-a22b-54d54cc40a02 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a0f7dca9-6e11-4b86-b102-15d847a8a933 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0870c3a9-be03-471c-b17c-9809637ade8f phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ba1abb05-ade4-463c-811a-217000b4f6ab phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:61798816-5f06-4cb4-bc5b-ab5f8a73585c phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:625db92e-b461-4725-bfa5-5eaa29307474 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82662440-b0c6-47f9-8ea2-fbd5722da4f3 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0866d1c7-700c-4c8d-ad5c-5df17a101609 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9e7b637-5c12-4eeb-9675-d4d0d3a350f7 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6e231a54-d408-493d-9f90-59197437212e phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:544edcc2-4861-49d8-a447-5fa485d69779 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:03e52482-1537-46aa-908c-500f798d3b79 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bfa73afa-227a-4af5-a3dc-cb7406572172 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:287e185d-7013-456a-9336-e05dff79b6bc phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ea477ba7-56ab-4cbc-8544-44c8e677ed23 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:999e0e6d-0fbd-4c1e-b829-e8c939e3f6c8 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2fee446d-411c-4cbe-9d29-0bfb1492d6d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1858803-3b33-4649-b2bd-7988cbc5bccc phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5384d8a9-3779-40d9-ac8b-f2ced78880c5 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c5d7230a-797c-45be-99b0-fc2d1a3eda13 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bb782b7c-fdd4-476c-a671-5357c28f2bae phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4c09856-601c-4318-8b74-77bc420dd865 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7524c925-00fc-4b37-855b-5b5ec36f75f4 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:af51b43b-d455-41da-b744-9c8e097e4e06 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:04ac98f9-aa6c-466f-8d97-80c5ca21a42b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23f24636-f7e8-4520-8182-8cc39d9d0a81 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4d18fdf7-1395-424b-960f-42601d44e60b phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f1714c1-e040-4f70-bd7c-4a40091b8e63 phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19bc66a6-6451-4cc2-8810-e420c55122fe phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:61e70e06-4f4e-44c9-b86e-9de5fc5b542c phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:0059b7d8-9f3c-4f1e-96dc-e24b112d8432 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d7347622-9e7c-4b0d-b677-d6cd4498b0b1 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14e8bebe-c2a6-4a6e-a232-67c33b0b8608 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eda865db-de41-406d-971f-36854aa9ab5b phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1084b4da-3b4e-4f40-8fad-3447c1d7fcea phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:77bd9648-d568-4e49-adc1-199c6298448c phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:92e5c04b-4922-4605-a987-dafbf7273755 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:7fe66886-144c-4cab-ae4c-3574a3e4d3e5 phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:02d242e9-850a-49fd-88ea-5b27865f250c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a933b508-df21-47b3-b189-f4bcecba0041 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fa80d236-7101-4508-8081-2884d5125f3f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ce1c3932-96a9-43b3-ab3b-a5a94e115d88 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:758ea75c-6cbd-411f-b262-7c2eb662ac43 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5cdd9c83-2830-405b-8517-39afe6daa639 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f26dc3ed-bdff-4728-bbb7-45a08e96d003 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4343fccd-90bc-4226-9899-3efd7bbfd13a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bcd0f4eb-973e-4aba-8719-7e0a7037c96c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ead2c159-f0b8-4de2-9f55-62c7f714fa57 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:00ad470e-f4a2-4aea-847a-fe7d309c7694 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:04e79ab5-7ca5-406e-89dc-ee0b26adbbdd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0e4d0a86-9b1e-49bf-a467-85dd8274426d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:125a2bc7-a0cc-4c93-a9c7-3135f608cc24 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4854424-6ac1-4d8c-a965-5d5796a4cf92 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:661723ed-9407-4445-83d0-b6f2a9559a4d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b85f223a-b248-46c0-9b79-9d897498ef66 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f6c2df36-46b6-430b-afde-d307ba48b413 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb342641-541c-4151-a971-240109ec680f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49489d9c-cd4e-45c5-842c-c199bc2835b7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3b0044af-7545-463b-83b9-1f0bc663abeb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7c06ea2-9380-4604-90fe-a06e5fe4df03 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:78855102-942c-41b7-ac86-d57bff8d3f56 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb9b438f-81b8-4a73-86db-319b6c0dbeda phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c032bd1-1c38-4e26-b6b3-d81b51ad9d23 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:92ea9559-a529-444c-9cce-e3f1df03018c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3fd68a58-a05c-4f87-af86-76a821bcb1d2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:41132814-93c4-4293-9fed-eca7f68ad6c2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:02bfeb68-e797-4d54-a7ee-c12945d737b9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0d6124ce-291f-44e9-b0a8-f4047b14c618 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b71fccab-f46d-4002-8773-3b0428627946 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:390551d9-6c57-43c6-aa1b-81627edc4ffe phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4b80bcc-e3bb-4f60-807f-9342a000f69b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a886d234-8ad8-41ac-8237-f778c2727a98 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:64d7129b-bb49-45f7-aac4-ea0337ff4e43 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30761ba6-6cd7-472b-882f-93d8dc93b3d5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:34996702-69df-4c31-99e5-72f402fac862 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49a6cd3e-4e15-43ec-9027-bb82f4d80224 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0e8b3d5-1f38-4523-8c8c-479502a24bc6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f7d7c35-ce34-4f97-982b-acaa3153bd49 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4cac290-6e33-44bb-a662-68277adadde2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:dcf49681-21fd-41c2-a28c-55ae9bc263e7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4b7d1657-a3ce-4a40-94f5-8863f0fb4bba phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c04b06a3-a4b5-4861-b951-654ca475f8e5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0239ed12-f7dd-4499-a9c5-b4242e64a540 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2d9b4e3-8811-42ab-ac59-0412222c465a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36d38003-3463-4860-a339-2fc74bdc2e6c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:509535dd-8c68-4290-a3c7-88bbcc75f64f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4b19e63e-d5db-4be2-8417-413d8af9d742 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5cb327ad-da7d-4e68-8ebf-d273120256ca phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8cf1fd40-44e6-42f8-801f-d128566d98b4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:06e3ed3c-8643-4042-903f-136e38cdc3ad phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b34e91bc-2b89-4cea-9fdc-b468c3a1220b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cee56530-d241-4bdf-958c-25e62f67be9b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69adf8d7-a219-4c93-b8f9-bb7cf99c9053 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:226b38f0-ca09-4c34-a8c8-bfc77725d2f8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0c860d3a-c432-4a6b-a4f1-147dc15f2a9f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bd64f187-eef7-451d-84fe-c5e449f2a1ed phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6d58a493-041d-4964-a25c-2600462dd20c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aaa703dd-de8a-44f7-a375-e62a9e7cf2e0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65f769f4-35a3-4d6d-9520-c557d0bfbf6e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8c23f6fe-66d8-40ab-aff0-a50091f1a478 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:abe949c1-b20f-49f4-8804-88c4cf98622f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:70fbbd93-fdf3-4c2e-82c2-a0b5bdf4830d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:37602cc0-0dd0-47ac-8e78-922eab92095a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1223d00f-5448-4252-a2a3-347c917f862f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0fb99138-2d08-4ae4-884a-03e9fd517c2b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:738dd830-ad0c-4505-a29d-0189ad0faad9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5dc059fc-c322-47ea-9850-30c4f4c3e25a phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:13bb663b-17a1-435c-b5fb-5f11e4add262 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cfbe9133-1714-4172-abef-5529b853f277 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:13c1be6a-92b5-49f6-b2c3-f343a25b985f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:66e5fc9d-a39e-4df1-ba13-adc33b2621ed phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:025dc109-383e-4d3b-84f0-f7981d741300 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d1b147e8-150b-4ca5-9b6c-e0a9a4fcea58 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f9fa01db-2552-49a2-a2d5-23c3ab9fe160 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b97f6525-6eae-4073-9e12-07abd8ced7c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0532685a-7c9b-49bf-a18e-d55556eec650 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b9b57290-09bc-466e-8852-4e2d77a53cb7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e6580184-7709-4f79-b6e9-c8d2f426d38b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a33e956e-dd47-43b9-94e0-8410b768f749 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:64bdd2d0-ba79-4e18-af1a-14831c755847 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:debfa2fa-9fe6-4927-a92f-bd9e4d10e753 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d49b832-42a0-4227-89f6-bcc3588ee425 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a8acf422-9d9a-4e01-bf08-9711920f5fd9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bda9349e-badf-4b3c-a727-fd93924a1597 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:660f84fc-391c-45fb-b7fa-ea03e9e16338 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:03bc70ab-f087-4fdb-9321-eb52caf33484 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c36e0ae5-58aa-4e55-8219-5ec795e0a99f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:28d421fb-727c-4092-a380-b74d9ce3433f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e5f6946-ec07-485d-8e64-efedbaa0c7d7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee5936df-c108-4ca7-adc5-63fa9de3045e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cfd05a81-6953-45b4-93db-7ed6a976c030 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:787beb17-47af-4db3-8460-b545eac643b1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b5b77f5-3fbb-435e-8dfa-32f2ce5b8a58 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b86befa-9021-4e3c-bff5-d7acbc9d9f06 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45bba108-7cec-46e2-b724-8080a42d0046 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66976c94-0105-475f-b9af-9630b40defcb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2939e73b-5f69-4f28-8a9f-37eb7bb33e59 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:70a6a313-140e-4a13-ac85-edd827235cf0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7f5583c7-1b56-41c5-b2cb-ee851f939c88 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:01e8ddf2-1206-4bce-9c69-a27b0ff28176 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0b507b92-0ae7-4f28-866b-2e5e8b3b9cd9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c80277d0-916a-461e-91d9-52b8f285fd13 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:338b62da-26a9-4d42-ab9f-1641ca60e5ef phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e86fae1f-b0f6-428f-a1e5-5a022648a1e2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3302fe2e-f892-431e-a688-d57d452f59f1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1dd4e22-cd16-4d4e-8eb7-ae33ed8d95db phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69b02146-6c5e-4848-8920-dd5ffc66baf8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a9dc440-8d18-4298-a5eb-5321b0bbc09e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d5a3da63-2329-44c3-a437-a3670eeab298 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a2404337-54d0-40da-b59e-37adb1358944 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f1c2c514-0080-4c60-8266-f7dc25cd87bf phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:276ca801-708e-49b8-b430-470642585e44 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2851672f-32bd-4c55-bc18-49cc25cda1bd phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f2f371a-f578-4716-9722-392d8e5a09c6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:343bc7af-0ea8-4be2-ad46-e6731ebf1fc6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b7478d7a-db47-4da4-9fd2-57bf2ff68d71 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6908dd1a-21d1-4f94-876c-4fa0f58a4384 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:de01eb25-e115-4854-954c-a1b2bec2d9c6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:861cfcad-c331-4ca4-82ce-0a5deb70b5ca phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:222f5544-9700-4815-bdd9-a6e81219cba0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8e223992-ecaf-4e64-80d5-37dc47ee3553 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9d2c7bfa-6ab8-441a-8e2b-ce96250a9fe6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:474d4b3c-87c8-4f29-9667-d48dcec48777 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cdf17e5d-d0a2-4026-b6d5-528d4a3b2480 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8f95261-48d9-4442-be06-2dceb589d948 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:05e5a222-48e2-46b3-8b3e-51615987caec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b2261265-2558-4fbc-a86f-56c6b37bbda7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:30405a32-43a5-43b6-b9ad-291273cf7967 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ba2e6203-880b-4c60-af5f-79ed77972da2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:39808225-0281-4b57-877e-c5cd3b1becb1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:b184fc88-1b75-4237-bbf7-c736c622e33c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:521cb38f-a906-48ca-9952-25248dbd85d3 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:481512c8-ddb0-4232-a2cd-abc1e868e7d2 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0bbdb120-174f-4c41-8b02-595f56171d6d phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8eaaa8a0-a7a7-496a-b621-104f68f6646c phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:051b057b-f0bb-4ac4-a12f-ac773973c371 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fd6cfae1-33f6-4424-8559-a268c968d0af phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:89c72eb0-7544-4abe-beeb-76786a7f1b31 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e69aafa3-8fe1-4763-8984-4e736bb9acd1 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f373b30c-1f5e-40c1-afdc-515ecf9723a0 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6510586c-031d-44c2-b478-f033ae23f25a phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f318e0a8-a987-4184-ab51-c5a9ac6f3e3c phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e5ac71c3-c859-4746-bf67-047c3c1f8bbe phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:195df4cd-17f5-4b5d-b3e3-53ef64f207ee phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9a627132-a327-4f20-b6a7-258d187a2efb phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f159a2ff-77af-468d-a9b2-d3b438ffe61b phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e94bacdf-dddb-451b-8c58-d7179d65a665 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20ead09d-bab9-4d59-94bc-62117ab3aedb phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e055badc-fa86-4a45-b800-5df2930d05e5 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e0cac29-b2b4-4eb0-9880-b28212ac9f65 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:badd46ec-a1d8-47a8-868b-44aa658f5e36 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8a9ad163-1976-45ed-85e6-9c18e23b4e21 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:18e3dfd5-5b34-4032-80c9-d9b974180df6 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:47b5c7bd-1542-4900-9619-ae28c7c2d635 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad072823-90aa-4103-843e-d33baa846428 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:749dd279-a0b5-41a6-b3e3-0c295fd279fe phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:307a7a43-6ee9-4543-92c3-51f26ac20def phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ad6553e4-d193-4f10-a103-f7b8589a5684 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9243c838-080a-43fe-8627-20ebc2db90fa phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cc4a223f-e3c4-44f2-bdd9-83901e77ab36 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:155a7ff0-460d-4b55-8fb6-85402e53c172 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:96e63de2-22f3-4a23-9b6e-bdd59820ddf2 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5f3353c-a5e8-4a57-acf3-1d1a00ae82dd phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:84c36a97-08f0-4e63-9dcf-8d27c83b9e9c phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:aefb7034-61ea-4f71-92ec-64ac8ac83923 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4ee73fb5-0c3a-498c-8836-b3c713d314e0 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fee8446c-e38d-44b3-854e-0fd2362697e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3e1abab6-30c9-461d-a458-c790909521e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45df7fd6-7283-45c1-b77c-4dbd13fc8785 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:65a23176-c682-4deb-b658-03dc3e09f7e5 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1f34c2c2-301a-40c7-ad5c-bbd4be7a7732 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f9e441fb-7c87-4918-90be-ed07ce3b554e phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8e05ee34-7141-4361-a279-348995598180 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:83352eec-9593-40f0-846d-a46b81f7f0e4 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b3f688ae-424a-4ccd-91ba-9807aedd7ec0 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8e57eca-8e58-461b-9ae6-a0c953db927b phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6bcb0532-3e0c-4306-b0db-e508bec145c1 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14c9dcde-91fe-4b5b-937f-6b318e182626 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c88232a8-4ba3-4a7c-9b3b-f42ce95bcd4f phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82f0a18c-87c9-4b6d-8d21-699eda354559 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8f58854a-61ab-4ec7-b9cd-00422ee1b182 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1ebe7475-9384-4bb7-bd0e-3ab0ebdc5433 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:db7cee38-af14-4cb9-87a6-c359268a126f phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f4adda17-d630-42bc-9f2a-cd3b6ef8fdf6 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:eef7a70b-a137-412e-941f-1872fb42ef3b phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e8918b7f-f3c1-447f-8e27-9237d9419efc phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:49cffe3c-a5e2-4837-8f99-b745d0271405 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d8ba6e8b-73ec-4c6b-9e17-56ee3637482d phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b37cbc86-36fc-4ac1-ae43-5b50641c6059 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bf2261fd-6dd9-4ac1-975c-b66747939c12 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3f9c590-b0ae-4f6c-a80a-35acc6415f31 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:152a4f12-9d5f-485e-a26b-5ffaf1d24597 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0b9b4a8-f5e4-4c3f-80aa-b75499b29396 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:912323f4-4ce7-42ac-84a7-02e0aa616857 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:daf5f41e-2e2b-4573-a884-ebde3d21d0e6 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec920033-1931-45e0-8ba0-d6edceb38b9f phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:551cc065-4cfb-45c3-94bd-2637b15815b3 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6a3eb809-881b-4a07-9587-0c0cb34632d4 phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3a87cd9d-7e5e-45e4-8843-0116888d365e phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:ad5951ec-99e2-4272-9259-fac8674750ab phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:3428b622-7571-46d9-b0e0-0623532abcbc phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:973c3c80-f77b-4566-8b5c-957e7453921d phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c04d5f05-d0b6-4de1-ad5d-ef8e7570b5dd phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:cd66e126-1b96-4ba5-acd4-58c4e7081dc6 phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:55c41ee7-60fd-4a7a-8d7f-ce35deddb097 phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46d96320-c606-40a5-98ce-1f3bd130b32f phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:98d9a2c0-1a0f-4b59-9c20-9083b7fb0058 phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3d1c06da-77ee-4ada-b914-d36303caa7c5 phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:364bd1b5-397e-4d62-adad-a452c04abe18 phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:b437acea-f3c8-4171-b64a-aeb40b98ca54 phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:26f2766b-6868-4022-a525-85e82b3ed15f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:827768f6-3757-4e55-9d7a-fee615629fa0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:57262cb0-33db-4541-b4cb-f1ff3c5b2a59 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:b069eb0a-8530-4c88-b56e-2c6716ce78b6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:f497945a-e91e-495f-9e4e-03908ad226e3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d5e207fb-0b9f-450c-9d67-817a98d0f30b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3eeaf5d5-0943-407c-9364-57368cc15022 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:559d8599-be0c-4137-b151-1f4a345889e0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:552e7b93-af2f-4bd7-8dd1-d659624bd5c6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0376c0f7-4218-4781-a99c-91a4608b9574 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f031f962-df07-4c76-9794-5aeb7bd73108 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3465cedd-8693-41c1-bb0f-00ac1276af5f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5c2034de-6ffe-4c5d-9b58-39a1e7fed4e8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f2d74cb-77a2-4cac-abd1-fc3e688394a1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:81441f16-52f7-4369-ac60-5bdad745c972 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b15118a0-c310-4eed-b444-15c7b0e88e82 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ed44315-c2d6-4f81-b5fe-e650f4a90961 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d4771c8f-0095-4e65-86e0-6eb82795348b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e40251c0-1c28-40c0-9afb-d7825f259e47 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c9e3cc2c-afd7-4e3b-9f60-34dfaed75ecb phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a5297761-d89a-45ee-9402-e164430ed249 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:03448312-b129-437d-a953-73d597b595a1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:58870461-7959-4056-81bd-51fc86de302b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6204b67-9244-4435-ac1b-769650d6f613 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b45ceb9-2e17-4bfa-9874-2b083484c291 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25478284-a4ac-4d15-b394-3d1a5648b87f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f731c036-ea9c-4b83-9c09-a3543a2a46a1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b37c15f1-4291-4d65-a532-8afddb266da5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b58c3f6-8a4e-4556-bf22-9a30e3741b9e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:121fe750-4d20-49a7-bd78-07affbb38835 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2cdc7b18-1c9c-405b-be10-47478ecd071f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:88334eab-9ffb-435e-90ed-c0b927b781d5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:079f7b38-03c3-4ed1-9e5a-2e9fba59685f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0f56fbc-1221-4fe8-aa7d-f02edbca0d96 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e139e7e4-a398-4aba-91a3-6bfb0d3b4369 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6b9a714e-75e8-4b77-9543-768a6028e1e9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1b5b16e1-33ad-4101-bc03-e620d09a0482 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fa06043c-12f0-4b75-91c1-07a2d76f66b4 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a034f606-7a78-4b4d-b07f-1ecbb9e25910 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b80a1e29-2c28-4a5c-a7b5-a204625be5c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5df613a1-ce5e-414e-9296-647a948616b7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e0bb5199-6ee2-4a37-b894-e9511af9ae55 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0253bec-a943-4b12-9338-f5edff4c5ca7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f365ee99-b127-400a-b4fb-72f882fdf9cc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:57e89d00-d9b7-4775-8b7c-ea7ebb50b14c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4b67f63-fa81-4331-a85d-0a0e2cb227d0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:02264c06-7557-463d-9c65-6b1f38a2d5a6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9ed2bb8a-2057-4a14-9888-abd3204ee9a0 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee12844d-04e2-4260-83c6-2efba93bcd93 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2c5c6997-33e1-41a1-b307-63a79feb4e78 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ca53b7e2-7fb5-4a5f-b640-ae29de725ce6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e28d7f1-14b9-4c10-a453-e882b3199d96 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c82fcfa6-53bf-420c-8dc6-c3cd7315215b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:956c3ac4-5aa4-4f47-bbb1-8f870a6bc898 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ff9b6deb-9f63-45d1-81a1-9835a96e1ef8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:14ee261e-b8bd-4a1c-90a8-b4cb48356e5b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0975935a-b3f0-45c8-b914-5dda4cd1741d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:c94fadf0-323b-4122-a90e-e24cc5366214 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:d0ac20ad-7522-4217-a2ef-84ab0d2d5bed phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a1baac9b-7d54-4db4-af95-ef2f0b5f1cab phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d3ef95f0-402c-46e4-8ca2-e579bae0ceaa phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:344e1adb-190f-40ea-a4e4-119c28f1eb9b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6cb916a8-d5f2-45cc-908d-0f0be2dc5fd8 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9e405cf7-1983-48d0-bc01-503d6be6c7de phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bd63deec-7d23-4dcd-9d1d-77b1c7653d43 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:cc5e6eae-953c-49b6-ac4a-d847e28796b3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:76bd3c46-d6c2-450c-a54a-04117541b197 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bbd13dc9-eb74-42ce-b74d-1c3b3ed94755 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:be3dd3b9-0391-4d43-94e5-23e248b5bc6c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d9b8ffaa-ea41-40d2-ada4-23622dd619d5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:643a1b4f-f29f-46a2-ab6e-d57a71a5539e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c9bf96fa-24cb-4147-b376-b18ba4d23750 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c33cf96e-f93f-469b-9d1f-ee89f3c4ef80 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:0427880e-a9f7-49be-aa18-990fbf9a54ef phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:88a1a083-6a70-4fcb-9c2f-8b97a0dd34dc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d85ea4a3-19e2-40d2-a2e8-ec227982f132 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:df668853-c85f-41cc-8be7-fa03ca1d7993 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1859456f-ce34-4c8e-9732-3e0d3a5346cc phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e79a111a-c309-4644-a665-e8c42a45c6f2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:38a7053b-0897-4984-a249-04d49abcf3a9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:61409e55-0ccf-481f-a437-8b371d74c20d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:345a2452-a946-4aeb-bf2e-6bf814748d1c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e1a53f87-6ee7-4c3e-a761-2d848146b24d phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2b88bdfe-9bd3-4ca4-80c3-79f1860750ab phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:1f938428-0d42-4792-a356-4153d4a1bc33 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:506bd77d-6d91-4352-b487-4fa515e5acff phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7bef3aa6-9b55-4101-8e5e-cc525f6cb847 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:539793a7-1b1f-45be-a354-76920261f54b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a0856724-0e8c-422b-ae34-dc816c8ba107 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:a89e127e-50d8-4906-b123-6f65f13540c2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b4b266f7-bafd-4e08-8790-1af2ddefe2a3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ee541c1e-dfa9-4466-b1df-664a969b849c phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7e82fbe4-375b-479d-8177-2988395451d2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36dc1dd3-5056-4dfd-8326-793b4f820823 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f0999fa0-a269-4eed-8b21-399319d5ca6f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e4e4558c-1d61-40e2-a047-1460f067ea3f phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ec5ab4f1-6f70-4d71-9d38-5ca3b45ca049 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bcf67fb0-bea3-4c82-8f98-30ca9cc7b9b5 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8fad289a-72b3-4014-8d18-c7e0265b02f7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:caf98d0c-b269-4542-aabe-d68f6b8b141e phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c516794b-8e1e-4af9-b045-ede45ab777a6 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:723697cd-1fb2-415a-90b5-26ade0356d6b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c3d31b3d-e8af-4343-b1ea-4bb1620041a7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3939a0d4-0519-4cae-80ed-1dc5ad7b6602 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f6c52374-1c79-495c-87e5-ffad9ed96204 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17c07712-8e56-42ba-bf6e-a3536e0277c7 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:feba2e0e-5fb7-4f98-97dd-0113bd6040d9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a4affd08-ce86-45b9-bdb5-bac1e2b8b07b phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2e63e6ef-dcb4-4a70-aa7c-7cfd36c51211 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:73cd481c-84e5-45c3-9d88-0f4e7f1e9c90 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:69be55cb-79b1-4ecb-b30a-d3fca9070442 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2846792d-e0c2-4477-bc09-9e7d3b715d86 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d39a1962-a5f6-42ff-adc9-01884a917ca1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0595b176-9c1c-4e1b-bcd5-97997340bfa9 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:879f38f4-d2cb-4f03-9289-c008bb517f64 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9f15f076-10e7-4e4f-b373-aea0a5b79491 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25a179aa-2557-445d-8b05-a0c05cfc6f83 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:be546a5e-6ca7-466b-9575-a8afe1c7ff15 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2210af2b-d93c-4f99-b76f-517ab4f338e3 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:369bc38b-58a4-483a-b8c2-eec42b435d88 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4faaff9b-1e21-47d3-8197-5c2d8808ce92 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1341450a-6757-4d10-a7a3-e2ede7a27e44 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e5492f7a-60f7-4306-8907-d6b4a2e34ec2 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b2bc5b13-2180-4393-881a-f6807be93dec phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:601b7738-2f45-4d83-bf39-ae014e103aa1 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:bc92ea2e-b380-4dc3-898b-92b4ea948dba phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:869b1315-2ef1-4f43-b7a3-c50473cd801c phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:31912d03-3e78-43d6-abe9-ae4404ceb606 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5f924f29-418a-45bc-921d-bbdeaf7c0573 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:3b4e100a-3d60-4f28-929d-594c9b83f71e phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:2f0d74f4-5ff9-45ae-a009-1949f913354b phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:ff06422b-70d4-4ecd-9032-3b6d5baa8833 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c87ab5dc-2a7a-46e1-ae9e-06445e2cb9be phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:6741abd8-976a-4a93-8f51-d5b892053a92 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c1fc44c2-0a9a-4779-9d46-4319c33ab01d phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:5a463af0-bb6a-4b7f-9efc-78ff7599dd7d phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e3c2f082-3640-41fc-aac2-1f294f2720fc phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:9f577fb8-d87b-4583-ac71-b96dde71fa72 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:8c27c12a-614d-477d-8675-d0775206bbef phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:04abe5fb-11cc-465e-a1c1-a8811cc36395 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:fc26c21c-4d7a-46bf-b508-74aa4cbc2719 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d9e1f795-de05-4df6-9312-9732835c668b phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:067df23f-6b37-43dc-ba25-7ef1b2a45b21 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66906a27-7bb5-4381-bd66-de9f881563cd phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6e35539-0334-4a90-b265-1e365fd4460f phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4f754d42-a2a4-45d0-a5f8-35b07fff1775 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:bc475335-f148-4b14-a2a4-91e71eceef92 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:421c604f-21cb-4e1f-b637-5fc63c6e0a91 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4977e47f-c9a7-4d9f-8048-f304acce3df4 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:646affce-6ffa-467c-8d86-9b49b17f3a49 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f8b8801d-90cd-49ca-8f62-c3ddc6e42596 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:36a47cfd-7d25-4310-850c-fcfe5a02afcf phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20d5b59b-9a11-486e-94cc-23503b11a337 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4aa46d45-4f63-4ee4-a826-eb2fd08b302e phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:56ebccab-7688-4ace-bb7d-db3fba27eea7 phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:539e25ab-45f7-4ef5-bde6-f7a82ab700c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:c4a4e60b-73ad-4dcb-a8c7-68b5deb00dc9 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:d96a5410-92c0-46aa-a208-d2ea22b8745d phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:bb4cd633-58b5-499b-98f1-7aa37cf96fb4 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:e713f9e2-24fb-4492-8571-48d5c478d023 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:7e0eb285-6485-42ae-9fdc-e04e090745b0 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:aaccac1b-5c80-43cb-9ff9-5e978e785051 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30580808 uuid:4e4012f9-9cf6-4575-848a-d9a230ef26cd phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:98127876-d130-4760-9919-8d406cd6ce58 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c454f76d-6fa0-488a-98f4-d48119ead821 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1e2e0ed3-13ab-4165-b2dc-c16879a75db7 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5bc0fbd6-cb91-4b7b-b794-0a0047204f86 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:17d2b074-64cf-4ad0-a531-ad1512cb5ae7 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:44ae00ba-a8c3-4bcc-917c-6005654a7d35 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:965c1541-af8d-428c-8216-c25ff6069e28 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f5e95dca-ea6f-4efe-9662-cb43f3fcbe2f phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a6f5ee03-cdf8-47a5-bb8d-dc92ad3254f5 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e2340943-2851-4ecf-884e-e08d26776785 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0007894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:66dc236e-3a60-4401-b0b8-fa3398084195 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:1bef561a-570e-42ef-a75c-337819e44bf4 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:fb4df286-dd06-45e2-b84c-d7d2a97be467 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:4010b104-094a-48a7-9c68-7949df91de96 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:25a88e28-1329-4d43-aae6-f7a1253330c3 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:45b1dd8b-5347-4cd0-9dfd-09e6ee4b263d phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:130e651b-d538-4ad2-b73c-9b9d87da96a0 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:51205376-c157-4b44-a2e3-80fd30cac738 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:e4b42a28-ba9a-4cd0-89e7-c941f69205ce phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:35ae1145-fd17-45cf-9515-03a9e4d4740a phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:63786bd0-14d9-4cf9-bd1f-605acf171d32 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f429f163-61df-4c6e-829f-194f113d81fb phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5bb56dfa-471a-457e-ad07-277a319f2823 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d7cc5d81-2431-4550-a30a-d5fd51525a9b phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:0fe1ded9-7fe2-49ca-9c84-db4c8d3d05ca phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a4d474c1-8df8-4c1b-836f-cfde6a7edd0b phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:62cfa141-3315-48e7-895f-adafb87304cb phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:523193e3-bc2f-4abd-84c8-34b4621182e7 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3c7dd550-6f10-4014-8df9-36bda3205607 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:f154ef52-6ba0-410a-b93c-d0984f852a84 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:9fc26031-a6aa-4a04-b915-6a8c783980dd phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:46335c94-bc8b-4bf5-b1d5-0ae3c3bf2510 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ddbf5f90-6e01-43a6-a4aa-b8e6bde02206 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a1711c99-d336-4cfd-b91b-c9b8c260ec01 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:840c79c6-e47e-40ea-a350-0606ad7bbad8 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:769a183f-824c-4bb8-aa7f-b9010c8048df phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f192d35-59ae-42d9-817f-48f914a0dc06 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8b82e0db-a476-420d-8638-2e1c412b8040 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:2ac49b49-2ebf-411a-9fb4-cb9d53304aa2 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:13a6589c-57f0-46dd-b01c-27d57a5f4a69 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f43a087-6d20-4a9c-bb83-e8bf70d6ac4a phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0005807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:20a13bef-a098-4b62-a70e-0a2d259d29ac phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:82309ef2-8ddb-4ec5-ae7d-180599cf0497 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:47dae1e5-72bc-487c-b1e3-f844d94ff3de phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3ad89efb-95df-4deb-8049-f696f49fa238 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:d3be4ec2-ad9d-462c-b30b-504a8025062f phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a7ad444d-420a-4de4-ba12-8ae60c6b9204 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:011fa88b-12ee-443b-93ae-2050217b9768 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000696 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:58569849-1b24-425c-a4ec-926284687e3e phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:be5f6a7c-aa9d-4393-83fe-5e447e06e8ec phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:5f1af012-3fda-429f-813f-64d755ce975e phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b3b99291-a593-48da-9a3c-0337659aa39a phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:3169a706-ce5c-4077-aff4-c987341af9e3 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:7dc515b5-3980-43a1-9e91-572076eafb76 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:718ce7b3-7fac-40f4-81a9-582677c8802b phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0008755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:8d77af94-c2ef-434f-908b-0c9483c5b87a phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:6f58ed26-51f4-46f2-a6a0-aa280db1905b phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:c95c3519-bed0-4e65-8818-7e17cc393776 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:ed255aaf-3917-4ead-aab4-dbb2d138f80c phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:a19026de-bb77-452f-b941-713dcd3ce480 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:377d6df6-465f-485b-803a-79e1ff54aaf8 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:b84317ae-0eba-4ba7-8756-380384a106ee phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:23ae7f19-afd3-43ce-8349-8749ae47db08 phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30580808 uuid:19281cc4-439f-4d32-b32a-3fd07ff1defa phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_disease OMIM:618362 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:4c80b3d5-007a-4abc-866a-cc0ee2f29a4b phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:has_gene HGNC:11105 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30580808 uuid:02f92a0a-beb7-4f50-9bbc-4527b1e7ee5d phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:44d89d9b-ac0b-48b6-83bf-07aa5ea87dac phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:cb76c93f-b2f5-46e5-8fea-82faebbea8bd phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:c00d9927-21d4-40f6-996d-f880eb3ca9b0 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:90dbd5f4-30f0-4c24-a8b9-5cd2d0ab2ad6 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:6584d8c0-793c-41b3-b788-d1daa23cbfdc phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:84442fd9-34a9-4f04-9d98-3cf2bd281d55 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:145bb0b5-f028-4fcb-b8ae-2918ceab7658 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:62b240a4-4e2b-4be7-9d80-4a1bf1004957 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:2f242910-4126-4aee-b1b4-4c56041cbbfa phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:2f66b329-5eb5-4862-8a25-c3eb6d4d63eb phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:2cafc433-e601-460a-9c5c-f304cc0791ab phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:c57e73c3-7642-454a-af1e-9e2eda1ff1dd phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:638a053f-03fe-4404-bf30-44b6efb2ac06 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:8d13c81b-cf4b-4391-9c2b-f274b02c1760 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:b2ab048f-e8b0-41f3-84d6-762185c9a5b9 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:aa7e12d1-c24f-429c-972b-b8c16875fe8e phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:25706ca2-3ac8-4767-a079-1c8afda74160 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:fe73cee1-2485-4de0-9f00-70518c74d8a5 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:93a707c8-d7d7-4470-86bb-75ac47c5e36d phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:e8634e30-f823-488c-81c9-6adca607225f phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:519c9dee-0210-4df9-bad3-65b936e76c9f phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:3ae8e479-1692-4307-86dd-26925f5cb97f phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:79aa876c-3819-45a1-be4c-8c6c12421db5 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:048cf514-db70-42f9-beb0-66d61b75de18 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:e5cd499d-4014-4e25-8942-eef657e66560 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:ae163ca8-5b23-4620-90cf-9f9388fdb327 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0010750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:abeb9761-0d27-45aa-9758-21298f519a5a phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0012210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:86aaeacd-49f3-471e-a5e9-31fb5a74c8f4 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:6b9ef76c-1069-41d6-bb5f-4b6e7a9a3a78 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:a1496d86-d154-4443-8e70-48d523d3bb22 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0010047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:a6ed0793-7441-4da4-9ac2-523fb463f8bb phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:936a4d2a-baa0-40d2-a323-023578539719 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:524d02d3-f936-4edd-bdba-8c6c9bc75cae phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_disease OMIM:610759 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28781842 uuid:ad31cd19-af61-4771-bbf6-66deafec9164 phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:has_gene HGNC:2468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28781842 uuid:84e42a9b-95c2-477d-ab9f-82eda75dcb1e phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:28781842 uuid:49ab741f-b3a0-48f7-b177-cea217a3dcdb phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:28781842 uuid:87ea4986-73cd-4843-9504-09a0a531ffc2 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:fe8fb4f8-9fcb-4af6-83d0-64808e5a9ea8 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:10a1d9a2-aac0-4396-bccb-7bc92b133f26 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:8b075767-75b3-4506-9ab7-b63b9d4539fb phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:1b66d19b-3912-4100-a33c-af425bb220d8 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:5cca87ce-f9eb-4781-a0d8-8d966dddce06 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:311b5776-0693-47ec-a007-c5468ed927ca phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:7bcbfe82-0cf7-4932-9773-2f51a709f84d phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:b2661310-a89a-4514-9d11-d38475ea16de phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:ec6ac126-1c1a-4046-91be-87a08f7101d1 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:632929e2-784c-48b0-9dc8-4ae517d07f27 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:711a2652-a308-483a-bf20-0cffe443a33b phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:2756304f-0f76-4c81-9fa5-4db72755361e phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:1d8fb01f-0f5a-4504-b456-8c114a4fa423 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:2d31d217-ceef-4c5f-91bd-8d14a9f2ddf6 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:a18c24d1-14d8-4fd3-a0c5-dfa8ac0d7d4c phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0007665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:fdb7391e-c68e-4f4f-baca-3739a3b23d94 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0010750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:0a182c2f-b432-453d-b84a-026a859c31ab phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:fa84fa22-9680-400e-9352-3570633d9cd1 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:c70d8c65-ae42-42eb-932e-3a46a4ebbce1 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0010044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:61824760-095c-4bbd-8e0c-f6f4ad51fd3e phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:71441682-d707-4323-8fb9-f7ef012872ed phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0009237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:ff75cf90-c4e2-4667-870b-c7cf2fe2307c phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0010047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:6aabe2eb-5e0d-4b1a-9ebb-6b753a6ccbb5 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:ea950992-2fd9-4100-9449-e5b6a2198067 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:08802666-4a08-4150-9bd0-b8f8b34e1ed2 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:658ce9b2-6d59-4ccf-864c-13085c16d354 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:0d5d4ec9-191a-4090-923f-be1e820a0029 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:476f5e0e-80a9-4bf7-88c2-81fdb8057b6e phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28781842 uuid:eb8264e5-2f9a-40f7-93d9-7b79699e44e3 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:b0ee5ada-1fce-44a3-9d9f-6a2b0a802c8f phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:9c8a6d99-3956-423d-b277-c823d4be6775 phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28781842 uuid:022bc016-a91f-4e2b-9fb7-dbd6c78842db phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_disease OMIM:610759 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:28781842 uuid:7b42c661-451e-4f14-8829-df112f17691a phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:has_gene HGNC:2468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28781842 uuid:cc6d0e79-b919-477a-bf30-c4a063b3b07c phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:7929324a-2e00-477f-8c5a-c2d3294ece40 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:c62629c6-e710-4e0b-bc3d-7b05bd6f4141 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:e0662dd9-2aca-49b1-870a-cbd5db4196a5 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:042d408d-fc1a-4a77-b587-8a93236f359e phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:b95af85c-df7a-4979-8e6b-e2e078f45a64 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:2b20f02a-c2e6-4c62-9890-0e2e610cfee0 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:2c94f0f2-5535-494b-a02c-342c01369f93 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:75d17843-d691-46a8-910d-b23d33adf7aa phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273969 uuid:1c1ac16a-86f7-4341-9b2a-c6637b69088d phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:af59c8f2-ed60-4478-b60e-bd35be166520 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:ffc6bc2e-3d12-4aa6-9633-f72d2d771635 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:1969e796-d0ff-4e1a-b825-853448decaec phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:be2a7212-8b05-41ae-a213-20f4a470c0bc phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:72817a43-1a6c-419b-8367-d1de02a5fc08 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:8e9e9651-9aa1-4a91-beb3-286a5c87a4e7 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:b229200a-9f97-485a-99c3-e110b5b8c7e8 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:1788894d-63a4-4e21-a7a4-9c2f81de8c1c phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:fe3695f4-b5d1-4e5e-ae7a-7a82ad927825 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:b07236e7-c581-42f1-8632-9c694ad54cd7 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:2df53086-35f1-40a1-b4d7-cf105b052b15 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:ff6a98d1-157d-4116-ab73-2b4f0e5581a3 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0010750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:e62603f6-6ac2-4efb-9d9c-da4351fc3387 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:fff3e3e3-1ef4-43d6-8105-d8cbb0b484df phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:360c1b9b-827a-4ebc-ad1d-6e55ff26ad73 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:de2e5ba6-8325-4aef-826b-3a4544caa35c phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:6c0e5785-6a6f-4165-9be1-ba6071f920d2 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:2753ff7d-9b19-43f5-95b8-aa172fbf51ac phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273969 uuid:d4e323ab-db8d-4a29-9104-ace31640c1e0 phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_disease OMIM:610759 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17273969 uuid:72cde30c-00a2-49fb-a103-c51d53f7264a phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:has_gene HGNC:2468 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17273969 uuid:b39378f4-f07a-4662-95b4-f6c44dc79857 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:29051910 uuid:59cc198c-8f47-4f16-ae8e-7e4e5db4973d phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0002673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:29051910 uuid:c8ef0bf0-2d18-4ecf-9caa-54a7e8ae414f phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0004406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29051910 uuid:81e3a57a-0756-4c63-8cb5-636ebe72f8dc phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:29051910 uuid:8b2860d9-506d-4e07-972f-a1f4f431bb25 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:48d783fb-6db9-429c-ab3e-edfb6a81c20a phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:2b13ebbb-d00b-4aac-9708-257134016741 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:7c7df1dd-243a-4111-8aa4-3e51fd156c71 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:04639e06-64e8-4809-9ab5-b6b15ca57b4f phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:1498342d-b889-4e3e-9ff5-864ad3d40c9a phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:0dd81131-56c1-450f-817f-0938dc50d14a phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:117e5573-41f6-4963-a952-aaabc2e7c232 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:a6771b52-16f3-4768-9b34-4efa5dc7bf81 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:aec57924-9d0d-411d-8521-85bd394a2f0d phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:05a1f8b0-2ff1-4299-887c-343eec666a55 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:1c606e06-da50-456e-a5d7-0d584357aad1 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:d127db57-189d-4aa7-bcd4-72c9ae9565aa phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:678d91e5-8ab1-4f4e-b1ce-141553287f2d phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:ba312383-cd9d-49a8-aa84-4ad7359cdb8d phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:832e5f6d-fc52-4026-a448-d9dede92b046 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29051910 uuid:a8bd9c5a-b527-4fdf-9245-3e93cfc5b9c9 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29051910 uuid:f22430d8-ee68-43ad-8697-135f2b11ace5 phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_disease OMIM:609528 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29051910 uuid:caa9ea26-134e-4a2f-a876-3cedfc11d04c phenopacket.store:SNAP29.PMID_29051910_patient biolink:has_gene HGNC:11133 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29051910 uuid:331f8b4d-d20b-4e84-8a79-d63fc0bc498f phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:1e677e0f-6c94-43b3-ab78-d3eb77e75392 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:edabf4b9-f104-404d-aac9-daee1e74ad45 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:0a35f250-e1ca-411a-967c-6dfc08c9ec33 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:d7951696-20c9-4a87-beea-d4cac886908b phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:d7a0d4ea-5221-4ba8-b8ec-ed2e40fb2940 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:f3242402-98be-44dd-84bc-b174cae6a18d phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:9abf6e53-6dc0-414d-bdc6-e0367461f906 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:4dd971c0-be47-437f-9186-9df338a86596 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:af2e9150-b560-482d-aab2-83374ab57e4c phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:c1ccf898-c392-4200-badb-d6ca7034e601 phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:602bdf05-8286-46d6-b2d1-d18afb2f18eb phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:2d9f31bd-3ba0-4ee3-9de5-fbeb0205e1f1 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36965478 uuid:d2f71ec8-cf72-4e5f-961b-196492007f79 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36965478 uuid:6bdcc4fa-65e4-481c-9077-c328461c9c15 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:49fb5bdb-47e2-4db0-aaa0-8d400b383488 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:41e6f52b-12cf-4bc2-9b50-ca205c56f19b phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:99d45a9c-b206-4bd7-9b74-e529bf2fcd02 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:0c61d148-b789-428c-b583-a20edc11232e phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:38c8088b-da2a-4022-9155-04efbe0a46c0 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:38216cc5-6990-46d8-9ff4-7d5deed8a460 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:0fde44e2-a921-4270-8b93-24cc77e972c8 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:74b3d634-4997-4260-93e8-573a541e9818 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:81abb5a2-b853-403f-83c3-72e821bacc23 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:5965a620-8965-44cd-88d2-198f38635189 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:374eecef-a8d3-4a20-88b2-b8c1050d1c0a phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:36965478 uuid:e905827b-aaff-4f17-9086-49cdfa55dba1 phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:411ed712-7936-4036-96b1-250d79eeef8d phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:cbb0602f-4504-4629-bb4a-84501014a3fb phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:58d7358e-b311-4fc9-90ef-918dd819d675 phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:caf811ab-1e06-400b-b3be-3aea020cf818 phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:fe41313b-0127-4681-a7a3-ef793cf5ad52 phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:db056ff5-da40-44df-b273-4fadf9e276d3 phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:4d4f4b72-684e-4f9b-be5b-89aa3b7e236d phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:9aa89d30-3997-4eb4-94c5-78c5bcfeb01b phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:d721783d-0b1a-4b06-87c8-3a8e66c7412c phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:6b0df09f-82a1-4a61-82fb-d8fdb8be3570 phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:6d100019-dad6-4c1c-8ccd-50eea458bcbe phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:81dfdbaa-10ca-4178-bd2b-c18699c66d14 phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:0ee72c80-2a2c-477b-80f3-be86230a563c phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:e184eaec-8f53-4e32-a0c8-c4f9c7b368af phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:36965478 uuid:122ba79b-b625-4a91-b574-1ca9b5fab6f9 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:36965478 uuid:7a154384-673d-4333-a261-1f43f8e9173c phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:89f62be4-daa0-4df8-9d51-9be0352242b9 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:3780f3f0-e957-42a6-a221-284870c149e1 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:f1a27d5d-d885-4f8e-a4f7-f1dbed28b93c phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:a9aca2a9-b7c0-4819-8162-dee01a3fd189 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:687d800b-6ede-47ea-b68f-cc317a15ff7b phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:62ac2844-6a91-4b36-ac44-51940584f7ba phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:49be9b19-a087-41f5-ba72-1ed385a141f5 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:2ad1550b-1b70-4eac-b384-2c6237cfa9fa phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:fdd2bb7c-cb41-40a3-a8ed-f88a5f7c6342 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:5073bcd8-a5fb-4bb5-b9a0-2c177057635d phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:36965478 uuid:7eb5cdd7-1428-4abb-b35c-debbf3998205 phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:e5d67f01-54d7-4b49-890f-26b350723441 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36965478 uuid:440e1fe4-58bd-4db4-9c12-a2fefaa8b4c7 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36965478 uuid:453040bc-ef07-4127-9e3c-a22fdac15907 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:5e2dd407-7138-45d6-b345-6e50ab5ca798 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:3d026e16-82f8-4cd2-8011-75e13094658b phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:7fcc0bfc-f404-405c-9fd6-9a61d9155636 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:e7211045-b2f4-46d9-bdc5-9be6280bb522 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:0eb257c4-9a39-404c-b94a-80eb8a843857 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:6bab74f0-12ac-4622-b6ac-ca5a5f6de306 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:6ee16612-a64f-4cf9-8506-579572f62a6c phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:78882357-b867-4bc9-b819-c17eb7fa1c16 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:36965478 uuid:984b4663-a52c-4fdb-b0ff-9c26725723b6 phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:d1578044-1bd0-4b45-b3b3-655fcaf885af phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:36965478 uuid:c306091c-d63d-4bed-94be-c335b8724afb phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:36965478 uuid:e474a921-ed07-4eb8-a373-9d555c657e14 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:2cd77907-a39e-412d-b37e-b3331ba9171c phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:63bc0f2d-5245-4b85-9a16-a228f70cb517 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:aa12b35a-c6c3-473e-b72e-0d645bf39bc6 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:cbaf98c1-08cf-4365-bfbc-04bde204c5e9 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:fb146c22-cd32-443b-acbb-1b3e97827dbb phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:d2cc6421-9d4e-44dc-bd5f-d11511d6df19 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:f2819ec9-e062-4a28-83b9-b1b191b41f53 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:464daf74-2842-4f67-8eb1-f9469ecff786 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:e6d8ed5e-c025-47b5-9543-77aa173bb933 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:0d69dbec-6174-4e4c-9984-88400bbd2427 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:36965478 uuid:8a8911cf-a306-4866-aa99-8c874fc13f90 phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:28a2df21-fcb8-4e88-8eeb-6736bc77bb76 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36965478 uuid:b8a4a6b1-0ae4-4738-b00b-5e4c5ad29ad8 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:36965478 uuid:70358661-de7b-4474-90c2-0a7156c0b54f phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:02e27cae-ad71-40bd-b42e-7e3961454b40 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:4103b1be-4962-4421-91ba-a6d7490cc7ac phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:144e717c-99e3-4206-9be9-4ad0ca5f96cb phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:de5a566d-2a3d-45c4-a19a-1f6069b95f80 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:498f351c-3e90-4ec4-a640-1b7c56d90c02 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:a2b200e6-6da3-4dcf-bb26-b99498127cb7 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:c2b9083e-cab3-466a-a461-8d238251e061 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:2bcd8665-d71f-4e70-8386-b75db46d7550 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:0e54d483-96a2-4fff-b54d-1bf6f20893f0 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:f9d33bf7-3fc8-40ad-85f7-691139c750cc phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:36965478 uuid:eb85d060-7623-4b3e-aaee-b61251a99086 phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:0c763e69-11b3-4d15-9a98-ffe8f5782b7e phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:36965478 uuid:e9a101ba-33d7-49a5-88d0-17d350be8296 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:36965478 uuid:8fe8f392-d4b4-4852-aa1c-5918c76ef532 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:b5136be2-e4ed-4903-8518-098131e790e7 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:0c604faa-5487-49d4-a4d0-b0a7ebc82d4b phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:b662614f-01ec-4678-a455-4859f6ad6fff phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:67140530-c6c9-4cea-86ec-a69924abc787 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:84215140-ef51-48a3-8699-b4a01c4f7497 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:07c93456-f5d4-4ba9-aafa-a2b1a2c32dab phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:2bc61261-91fd-47ff-95dd-d6376688aef3 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:60284589-e04e-4179-b57e-01e0d9c6d4fa phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:7f628839-d5b4-40d0-9683-d37ddce59d78 phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:11dfe275-a25c-4eaf-aa39-76d6e3273a6d phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:36965478 uuid:350f8ed3-4f87-40c7-9428-17ca06a6c17a phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:065f2a89-35e7-45a5-9d69-34f17ba3c070 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:36965478 uuid:8678fe53-6d2d-493f-b8b7-230a35d03df4 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:36965478 uuid:220e8a14-102b-45cc-a15c-d8c236347ac5 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:84eff5cb-00aa-4ac7-843c-eb57528de52c phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:e2608ba7-40df-407c-a1c0-fdd950875c17 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:d4ee86ca-9e7b-4d63-8816-a13af9699d3e phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:2bd322d3-ac2f-48bb-8e1d-42f0c6b954a3 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:b2577bd6-f6ad-4e3d-9177-450a1dee9a35 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:5dea55de-fe5a-42f6-a979-980e3f409930 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:b8b90674-d0d4-4e0e-a56b-f2fea6d31eab phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:eda7fc67-b2b7-4ff3-96f5-905d3f5a1dd6 phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36965478 uuid:2d97d696-1c15-436c-90eb-69812812fadf phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:b86744aa-61ae-4fd5-9f14-e14f13e4aa11 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0034332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36965478 uuid:c92854d8-3fbe-4788-ad28-c989f11f00cf phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0033044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36965478 uuid:2f9eec7e-9076-4017-9522-a38a3f6cbc88 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:2899c8a4-446b-43f2-b66a-cb1fa89bafca phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:592e6b2a-a07c-4e67-8ac4-06b7690e3378 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:daee52f9-df30-4d71-9f37-2ef89548f863 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:ca5db140-937d-4b07-908e-8ab3009d706c phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:5f66c6fd-cfd0-4461-ab72-4f56c77c8bf9 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:203176f2-b21f-4e73-81df-f6a7400c0cdf phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:e5d72663-0cbd-478d-9407-8bfc7dcbe557 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36965478 uuid:62a7b1a8-e5e9-4f10-80ac-401dcf166657 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:dd17aeb5-72a6-44d8-8062-06be99687c14 phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36965478 uuid:f79e1064-832a-40fb-bba9-6a1796834b9f phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_disease OMIM:620515 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:36965478 uuid:b9cdc1e3-1547-4734-b3bd-800ebffbb27a phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:has_gene HGNC:11137 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36965478 uuid:58076a21-a391-4f0b-8347-5129866d5da9 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:ffcad7f3-1dda-4223-a337-832972b5ef9b phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:118fba03-6aec-4d81-9a85-b0b46ab07947 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:48bf6630-f80c-4f27-8f6e-9b82b05a0478 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:c83386df-b0b1-42f0-aae6-ccb3b60fbf84 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:26d510d3-8a36-407e-a8fa-50ff570f778d phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:3bfd84d5-2a42-4bff-988f-80e69586c7d6 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:c11a886f-2e8e-4c05-87ee-502898f285e3 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_phenotype HP:0000649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:0b3206b8-7b71-4ee7-a2ad-1119e74f0015 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_disease OMIM:620783 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:1a726c37-cc03-4045-b718-2bab2c3d17f7 phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:f776593a-efae-46c8-8ca0-4da22aa41fe4 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:6be3f699-3e9a-4659-9bb6-d34f5d646dea phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:bb1570bf-31e7-4921-901b-e03b0e5277e9 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:5e4570bc-51df-4923-bb44-0ff1d6cb009a phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:d9b34308-365f-4cc0-b92d-163c3e4747ea phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:8ba5d03e-eacb-49ec-909e-1680d44446b0 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:fe999a56-f62c-465a-b5cc-cac82fde13d1 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:e95a13cb-ad8d-44fc-a515-34100a6e1d37 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:e7bd5c1a-12f4-4fb1-bc2f-65da6eac535c phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:39125d4c-83ea-474d-8484-296d7cca1bc5 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:0514e2d1-5ec3-4e9f-8c87-115fee812b1e phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:68badb96-6436-4f75-9703-c7813f1152c5 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:ed8bbfde-9849-47e0-8291-156b7ca582eb phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:73136f37-ef5d-4e69-91be-e423416cf5aa phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:9aa308cb-a329-4eea-b33d-4c7934da33f5 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:092ad953-fd5c-4fb5-a002-9f90aade4dad phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_disease OMIM:620783 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:0288bd0c-df7b-46e8-b774-935a9d59ea80 phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:53862572-d96e-4b16-96e4-6381cf78a319 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:6b30cb83-d534-4b5d-98c9-b702c024d07c phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:7d2f7ef6-2e07-4ea4-984e-9ea98399bc19 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:e607a49d-71d0-4c09-a47a-537c7d7c45ab phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:209186b6-df56-42ae-9df1-90e587133e72 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:4d70823c-3b7a-488c-8cca-2dcf4705e2bb phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f982af46-ae61-44b0-b1e1-4ea083f427e1 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c926b30e-1553-48e0-a53d-e68bff098d63 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c8afdb06-c494-4536-a3ff-c83b6f4d182f phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:8c1f1df0-7e2c-4a97-9e6a-a98c80f02a57 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:0c0c368c-e343-49a6-84bf-79ece2b2847a phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:5d2d6ca3-6fc5-4ddc-b09a-0d1ab70db734 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:f886e82b-5ccc-4617-ae29-0da49324d2dd phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:a0e97e64-614d-4f34-9797-87db0cf84449 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:eff64bdd-e60b-4ebd-b999-3fd449f4a6e2 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_disease OMIM:620783 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:0214251b-9a34-41da-9ec4-92b0f3c47d41 phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:ba687b51-1221-4cb9-9678-4013b48fdac2 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:68f0778c-0d95-4dd3-bcf4-a8aec6e012c7 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:a8fd086b-f920-4a76-8eba-31a281146947 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c977895e-c1f5-41a0-9b65-0301fce4cc2a phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f7065a5e-9cd9-4e46-a1d3-d1910a126c49 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:fefa64a6-24c2-4e3d-884e-26e6b2eedd84 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:67b89006-295b-4764-b605-0f60154b063a phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f531526a-e9ac-4255-ac77-aeb009d2a0a1 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0000649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:b115dcc7-4bfb-493d-a90e-2f83eaebe23e phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:88ed2bef-4b31-4d31-bf79-cac74b5eaaf3 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:c8ce69e8-0656-4b23-94d5-79dc6c04c7dc phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:eb5c8fd9-dcae-4700-95da-c06050a7513c phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:908ae43a-4c5b-4ad3-a58e-248b8ddd447d phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:3b833ddb-3953-40df-aef8-fe3477e599ad phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:5d9371dd-00ed-445b-8c63-09c549af8f09 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:0f1c14e0-ffc1-4de8-9d81-4c74a80434b1 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:5da98d6b-0e28-4b37-a841-556a8441a798 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:51c18e3e-1f45-462c-a63e-300020b72151 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:0a63651c-8fbc-4735-8dc6-7704180ec256 phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_disease OMIM:620784 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:38423010 uuid:34314b05-0bdb-47c5-a4b2-1c1ca4f7ea6b phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:2bbeea2e-76b1-4327-a1fa-35c0d908ce0a phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:4891cb09-4d59-4d40-b316-aa0f360a025b phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:a74a54ed-427e-44b6-86f0-94be330569a5 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:7aaf0ae8-536d-412d-a35f-741842f5b03c phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f2bcda94-7a8f-45f0-8f71-3934a1033a2e phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:a4e3b97c-4160-4287-a21f-b4db23e340dd phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c97681b9-f901-4995-9a29-b89f486d0dc3 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0000649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f26424c5-a337-4570-925a-6dfa3d1bcf49 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:55d6115c-65f0-4bd8-bfcf-4c1ef7db7fac phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:941c76d2-633d-4e0d-87e4-adb8424b10b3 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:e281d74a-b114-41b7-808a-7d8a8c8bc2fb phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:4cc4db14-7c5d-4ac0-8dd8-341cb93fb045 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:6a70a648-9db8-4b90-92fd-d8d89747c8a2 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:14bc46d7-6cb4-43c4-bbeb-32a91cccf485 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:7c9eecaa-015b-4da1-b23f-331b4b2cd891 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:591d39b3-b733-4b0b-b5fb-27f0458196e0 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:34517dec-c7e3-4ea6-ad98-c8c85334736a phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:a313d7c5-d067-4d27-9049-02a9654efb8c phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:b8d630d9-161d-4b5c-bee4-4fec97cef67a phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_disease OMIM:620784 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:38423010 uuid:5d1228d8-725b-4188-8f31-9af4d2f02891 phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:f94371eb-1330-4eb9-bc03-e8cd3cb38f6e phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f52f4e9e-7fde-4346-be82-479a565255c4 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:0fa5e845-3ad6-4da2-bc28-ca019e2e2267 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:479002b9-a0bb-48c7-a0a1-f26365c485d2 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0002352 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:5623cb1a-64d4-4a20-8bde-1c3e65d73443 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:0a3bc945-7ec2-46a9-a5d1-237078139c23 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c735b579-410c-4c9d-b8c0-e277a2d88268 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:336fa872-939d-48b7-8c0f-2f059febdcf6 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:a9c4112e-65a8-42bd-a334-de6214a31513 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:0f0bcd09-87b1-463c-8f36-f3b9d09fa9b9 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:1bc486fd-3f74-49a0-ae1e-db0fef495139 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:386925de-34c1-43e1-a7c5-4f966558c0cb phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:9ba99b4d-5aaf-4025-94f5-c23160ee9c5c phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:66b0bc81-cf85-4522-9f67-5883465f175d phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:45327e89-db9c-4f5d-9b65-7455e93c28b0 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:4ab63708-85e3-44e6-b996-76d8fe0d1cac phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:b9392292-a5c4-4dc7-9d9e-0ea94114ee33 phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_disease OMIM:620783 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:ea8d2b32-6bc5-407f-99eb-9c246c27b99b phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:58086469-72b1-444e-b911-da17b7aa436b phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:1f643435-f0e5-4e13-a4b1-701da61dd9a5 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:76b6b4a3-9e0a-4d9d-9b50-f4267e24b71f phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:7e603ba9-5be6-4586-ae8b-1677a738fa98 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:f4c0e96c-b164-43e3-9cf3-f62a6162eb9e phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:0071dc73-3f19-4d6f-a0bf-d7f07ed887c2 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:00575af7-70ee-4493-84eb-2e884b980d81 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:51245cd1-9e93-4108-bba2-d270ada4a4bc phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:3881480e-579e-4940-8be8-2c2145e98bbf phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:4da60710-cecc-4ec9-9b8a-f8761bd79ca2 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:1c899d99-3455-40ce-83f7-54fd296ceecd phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:2f2ff3fd-52a8-42ef-9d7c-7029f0c79273 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:4f12ce8b-7e23-4b6c-8493-08ccd129b4bd phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:86eb168e-2bb1-4d3c-ade2-fefc7846cf9c phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:8dd256d4-2017-4261-9840-5397503fbbc2 phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_disease OMIM:620783 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:894e0f0d-5caf-47f6-aac4-a309093753fd phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:1ecb47b3-0741-480f-b02e-a4ea3abbd0da phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c99f59db-cac5-46de-a526-e50a6a296a17 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:95e2a465-51a6-4a75-8c6b-4384f8f5d8eb phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:4e5ef3b9-2db4-49de-94d7-5e51bd6e1f3b phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:1f40787e-e3bc-4f4c-a382-7f58905347ea phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:af2426d7-896d-469f-a174-f355142266ed phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:8b474507-eecb-410f-b35b-cb4634d0fb01 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:eae3f4fe-dfff-4595-a7a7-4583694956ac phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:1c6fb42d-5a30-486a-bec8-76e41e9f789d phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:e4d7db14-fc43-43d5-99b2-7e5f7ac195f3 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:fff38fa1-7daa-4d78-bdb5-836ead168ebf phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:a904878a-ac02-4c9b-8d39-6d538c7b240e phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:eae4c1af-1648-4c0b-8828-8722ffc60850 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:6ff35ffe-378f-4b8e-af10-339e43b7a2ba phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:b287e7d1-6f9a-4a04-b3cf-f62119e483f1 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:221f3364-9b51-4007-a18c-e54452115ced phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:1d48e611-4076-45f3-9023-53cddc6fc00a phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:97d45ddc-38db-4f70-83c8-f54236314e62 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_disease OMIM:620784 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:38423010 uuid:bcb2749c-7538-4097-b74b-4035eefbc170 phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:faeaafdb-9121-4ce8-ad25-0fc7df5c21e1 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:3bcf4ee6-8511-459a-8dfb-c442039dfc61 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0008278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:096421ef-4cc4-4029-a38a-57b09f17114a phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:d9baa7ce-0a3a-4d26-8dc9-6d0e8feac5da phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:54d9b608-d8d8-4997-bd27-40cec88225c9 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:07164841-cda3-413a-a2f3-0b610df72b69 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:c91d6487-2b0d-4cdb-bc92-45b87451d0c8 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0000649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38423010 uuid:310774a9-98d4-4531-98aa-1d6653ab1167 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:f452960c-2a1a-42fc-9bc0-76d624025141 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:035f2141-6456-40e5-a978-3c448a7c98c3 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:17be5b66-2580-481d-857f-be59385c63bf phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:e1867af8-9633-44de-b934-82a6ef6deafb phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:ba435646-d86e-459d-9057-3a7f61fe2b73 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:dff18fb0-096d-4fa5-95b2-9de0f10a4830 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:05db866c-c737-4b16-aafe-5f6b03cbe55e phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:22d69f87-1825-44a3-9690-d78999c2100d phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:3e7e0d64-f830-4930-a75a-91f153c8611b phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:c1902363-45b6-438c-a2db-a1383dd9ac31 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38423010 uuid:b57a4fc4-f32c-4d99-a903-994ba26fd949 phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_disease OMIM:620784 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:38423010 uuid:9c504611-1fad-4efa-b88c-08d02d0d181b phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:has_gene HGNC:17028 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38423010 uuid:fb397dbd-73e1-4d68-90f5-91c91fc6e01b phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:38413582 uuid:9f18f4ec-7ea5-48f6-9792-f3bff44f1d4d phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:59a697b9-1409-43ec-a6f6-89fa699b14ef phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:9489084b-be95-467b-9afd-09daa4c7addc phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:8cbf4924-57aa-463e-a109-0ad8ee19b93e phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5e8204b8-e87e-4983-ba81-7fd268a57f8a phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:4e8461f3-826d-4a2e-b9f9-1e3bda392e52 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d212f912-8166-4b8f-917c-431f0300e3ed phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b780b44c-71b0-413a-a140-549b2bf0380b phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:ecdb2f58-7ff2-4bc0-92ae-dfb6652da33d phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:cfc76d87-42a8-4b28-bc41-61c18e157c04 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5e0edcf5-4a70-4a55-97ba-f40c6c54c566 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:765ea2f7-d9e6-4f70-ac20-3a9b88bfdaab phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:76f67e12-e042-49ae-a89d-02e03aa910c7 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f79656af-62e4-4c9a-878c-701c50219116 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:0ddc5d47-af82-4c74-a281-91d161446ce8 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:63d7e0e2-ad7d-459a-890f-8874ce0adaf5 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:0cc09836-ed0e-48cc-b60f-59a65c610b4c phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:a10486b4-d35e-48cd-9886-13fbb812b9a0 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d5ec9cc8-eabc-4d5f-a6a5-1297c1510754 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f17f34c6-dd8a-44f5-b340-5631dc5e4a9e phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:cc85eb89-4ade-4575-9692-a11d6f4a471e phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:f6282d65-2664-4b3d-ad3c-936892f579e6 phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:9698b766-225a-4b4d-8294-4224ad50cae0 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b95bcc4d-b0d8-4377-95aa-5ac1f3304138 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:1c91bf81-faf0-4e4f-aeee-720ece7141b5 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bd49e841-91ab-44c6-8361-151fd5613669 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0a3d0820-a6e4-4610-a097-a9eefd2987c1 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:83ba53f9-e7c0-4666-b95f-89b39104de6e phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:625c0341-5861-4da6-be3a-64fea615caa9 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7dfa673e-99d0-49af-93af-5e3f77f0cfb3 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:1393e660-ee10-4907-9484-9296bd0d1a85 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a691e1be-b9ae-4f92-9896-f0fe65a290b2 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:acbaaf2a-937b-4b8d-93ff-731b46733bed phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d33de954-01f0-46db-8f04-d39d424e7bdf phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0df97397-4bc4-43f5-bce5-3062293e3b6c phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2159e9a5-e8ea-435b-9978-a0cc003d8fba phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:da76e0fc-f381-4cc5-be9f-829fe5f7b2c9 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:55da3c9e-8156-4645-be00-06af3be3ed9e phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:94b5d8a9-0c7e-4463-9b21-b2be4fdc5a46 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:c54218fc-ca74-49b8-bbf3-462dad5adaa6 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:12472273-40b3-42fb-9aac-b5d94d1d78d5 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:83424e40-f1aa-4330-a00d-3058892757b9 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5ab129b6-9cff-4c40-bad8-685c57ff2e7e phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:e173a0e7-19c4-46b9-903f-73c99fa2f2d0 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:16eaf1fd-6e67-473a-86ee-6e47978ae96e phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:38413582 uuid:44280be1-f03c-416c-92b2-c836414fe6a9 phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:1d04239d-7b60-41ca-9053-d06e3606cc9e phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:280b1599-5c67-4992-a5ce-5a665b7b8a68 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a3895c17-56fc-4c82-ac4e-053fef595176 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:64b33ccb-e8ec-4cb6-a0e4-6fa238666d30 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:e9c31193-3968-414d-8094-362118e7eaab phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:daabd60b-e734-4ba0-a427-90a58fa2f526 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:8978a822-a59f-4e3f-b795-e68ae7a021e2 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:e3aefc49-5bdf-4895-ad93-590fc9b19b8c phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:39d54f9a-9ad3-4aa8-b009-83dcbf946130 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:fbd888ff-e047-49f5-86cc-08d518f6311a phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:75e6f73a-e15d-4a23-9474-d11c7b068ed5 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5752e4b2-f7a3-45f8-b774-c8655b919e8f phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2b0f0f42-354e-4725-abc8-8460713d4668 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d5efbcbb-42b3-4b8c-b191-72af6ee76bf2 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:b66b1989-9862-48ce-970a-1551f57df1c6 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5083585d-ead5-4c75-abe8-f021d5d782d5 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5b94d6b2-be91-4cba-ace0-24cfc6b5d914 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:7fa6ac59-a931-4840-856f-291df736e383 phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:92791a30-8434-41c7-a8b6-d4e1cdc17cce phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:c7e453e6-e9d2-405d-a79d-5da272c5f498 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:38413582 uuid:a7cff6a2-a1e0-4c3e-a14b-a881275cd8cc phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a78f7e3a-572c-4cfd-8553-a0c6a81cd686 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:83e068a9-8ac0-4301-a134-8b442a0af728 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:4e23b725-85e2-4630-b7ca-9f432afdd1c7 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a813b345-7d92-424b-914e-6a492c534a34 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c5e00ae5-5160-4ade-8a27-c218caf76d09 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:be3f0d0e-0a33-4ac5-b5dd-62ec4dadff47 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:dc96a120-cce1-41ed-8486-91261210bdb7 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b23a9dd6-f101-4cce-877e-f0426055a833 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7593abed-7528-44f5-bfe3-7b2d26917064 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7cb68cea-baf8-40c2-8069-add759e9c608 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:27432bd2-6326-4b5d-a9b9-27b59d29f69f phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:059d4f02-6fa1-43f2-a200-ad9c7df9e534 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:8509b03a-5a04-4fbe-bcff-d87264f52f61 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:7e6a6875-fc63-4d9e-a89e-b13af4fb91f6 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f0fd170f-6d8e-4e74-bba0-06cdfc50215e phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:3e4685c9-ac05-44ed-8b06-a1fe14100b19 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:75bfbb75-07e9-4052-9bea-6d2195e67a09 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:3a60b8f0-f8ac-4a5e-9b9f-1635f6879afc phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:6c2f83a7-6add-414f-8275-3383bf1a5a58 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:fa430648-fe18-4673-b722-b6a5adb4e6ce phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:38413582 uuid:1c8926a8-4ef5-47f4-b44c-80bf51149373 phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:aef1612d-079b-4350-b9b8-ca808063c01c phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:84a0708d-ebfe-43ae-a4e8-f4cfdfbba2b4 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:46589eed-6b58-4d15-b461-1a1690b2ffff phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d68a17a7-1a92-4058-b53a-4695151e68b5 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:74b96748-aa11-4a87-9872-e14841f2d180 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7ac58d53-0128-40eb-a1b3-f31ee9107b84 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:973c07e3-7838-46e0-b476-fa4091626479 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:af05e483-126e-42b9-9107-c65647fbd9db phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:69ca2545-0b19-4905-830d-7d7600f702eb phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:12925a85-5e57-481f-a13e-325490b5cb32 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:6d258f70-e07c-4a23-a8e7-9bd5674e14cb phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d13535af-7780-4586-8c17-4a0a992ee156 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:fc55b065-9d93-421b-9e1b-0a35ac6acd47 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:90d9be80-b596-4f5b-8de3-baaa4ccddbfb phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:dc6a96ae-3b0f-45dc-ada2-d358e3111b6a phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:645151ed-e28e-42f1-a34f-52b983798643 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:5110c375-ad2b-4b0a-a9e8-0388dfbdf9c5 phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:3c60708b-dbad-49a9-9ccc-9c6c2922a7b2 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a4ca53b8-dff2-495c-8b05-8fbc05939eac phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:1636bbbd-34d6-4f95-9551-a590fec8b099 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:391dd680-ff10-40a6-b431-a8b325b38224 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c0d4d17c-727b-461d-a5cd-bc1cbe213fa3 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a4abfc80-4ee7-43e6-8f08-ccc5a44709ee phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c6b60a70-4d40-4ab3-9300-758c77d041be phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a1d4986d-b4cd-4171-8a8f-617e33d5d8ed phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5b9f5f35-97e7-43c4-a333-46b2add16939 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:3f69472d-1a5c-4e7a-bc80-21ee3a876c02 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2e711286-8fbd-49c1-b2d6-14297cd4d2e9 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:52e2d1b3-395b-4ba4-a185-35c78697ac5d phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:44772402-85a2-40ec-97b6-3f6e387dee90 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:7be6a025-6995-48a7-9daa-1618756ee089 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:2fb86811-de3e-4e53-ba22-8ad14af89ee4 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:7ef8b86a-ae7c-436d-90de-b30691432d43 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:2745caaa-50a8-4985-8c65-be3c3288e06d phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:87aab169-1d2f-4d9b-90b7-f1e83844151d phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:e3d26dc4-fffe-4ed0-86d5-4f4fb3db0665 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d5594d39-c9c2-4f81-8546-e57f724aa2a5 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:7f133161-dd0e-4a18-8a73-d493a3101e02 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1139cb34-0338-49fd-afb2-3c7b1dcdb7c3 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:b9151d5f-a646-4806-991f-36a53dbfd11b phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:dfcba213-9355-4623-a7c5-d8c3721e84d9 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1c17eb60-8fff-4378-9330-2b73ceee354c phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:6cd2021e-d5ee-42de-9aa7-dc46ec32a6d7 phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:e7e25405-a7e2-41b9-bbca-c0cc2525f1cf phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38413582 uuid:4022d8ba-640d-4116-aade-63e6430f204a phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:de7e81d9-bdad-49ff-9ada-a6d88c317e23 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:2912d529-9dd8-424f-ac3b-01741e53c963 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:db1cb9b7-02f8-46a4-b845-a47f5e81ac44 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:62784801-3390-491d-912d-ac6050882fee phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:c4f25f0e-3c69-4516-acb0-b5ed3339d9fd phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:039311b1-3eae-43cd-9685-eafc6ffe71d4 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:c28e7a50-3100-4542-97c5-17fcf6cbcff8 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:b9fb124a-75da-415d-81c6-53c7ca823840 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0030227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:0859a046-3e9f-4fd9-b10d-9616bb29c38e phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0020202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:f0e37d90-e554-4e47-b6ee-a644dbc8cbb5 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:f6116163-15d9-4f49-9f78-08a4c7b36cdf phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:4251d78e-c036-429b-be26-0a453c0d0b1f phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:478f9a3d-de87-41ea-97d6-4a990a7f2295 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:20df4d6d-d1d6-4c2a-b740-67d558d71876 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:8a0c8401-bb50-41da-8fe8-f99190f29de6 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:acade762-c8be-41e4-888e-debb52ca5d9f phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:d64e9205-486e-4a94-b460-1009115c3ce9 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:c0b9b9e0-e59f-4642-9f9d-1c6c2c3731e9 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:38366623 uuid:df9dbaf2-607e-476c-a1ec-8db01c50cddc phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38366623 uuid:b91a473a-5f25-4236-bb53-bb0a4821441c phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:38366623 uuid:1625bba9-7da7-4c77-ba2e-018ddd20068f phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:a5f7a93a-3e3c-47c8-b519-665677414547 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:0795038f-7b00-4213-95fa-19d424c0cf85 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:f8f4725a-af86-4f54-a335-d171430b4e7d phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:187fe974-f414-4c0b-b006-64fdf0922adc phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:a330c333-0cae-413d-b6e0-01bffb490776 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:bb77216b-6f47-4abc-b451-00f77a182307 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:62817d55-ec0b-4782-bbf7-2feb4ae0d9ba phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0030227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:d8fb5a9e-0bf2-4af1-8d36-d6dff1adc6a4 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0020202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:be572018-a062-455c-af0f-1fcee6b11ba7 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:801eafff-995a-42bc-9419-8ed5c74c9e6f phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:7feb3e3b-c49d-4e19-8181-f3602aa71d25 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:1f492444-68b4-4d8f-b36d-574b5288656f phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:8b85c275-5475-4003-8a3f-90e92382627e phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:4ee039ba-e6ff-4b7c-9410-531387835239 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:a834d313-2feb-42cc-9f02-35416acaa7c2 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:83be98b6-dc29-4a8c-a486-c38ee7608983 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:212ffd9d-fa18-462e-a034-d3984895f010 phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:38366623 uuid:ed493949-003e-4d3a-8c73-b84f90114c9e phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38366623 uuid:695df060-9cd8-493c-b8a0-e2928f42fd04 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:38413582 uuid:7661875c-d307-4f88-a239-59681ed307bc phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:8c56cc9a-409a-4584-936b-ab97ea8bec76 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7cd78896-5305-4afb-940c-adb6d8c4bfe9 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0330e8f6-511c-4f8a-bb63-73d0c8b8c8be phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d9ab8c06-5929-4de0-8bcd-837c2a93fdfe phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a00bdc6c-b22b-4516-82ab-41a93f2d11fe phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bc83cc73-02da-4d02-9643-07fa6ea5d439 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:6be96968-9fcb-4ef3-8b13-5803bcd871c4 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:819ad289-c4a6-4d71-a4dc-6a6f8f1cbf48 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0004303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c263f65d-7146-4181-b394-ddc45351a873 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:71143557-5e91-44cd-b34a-01fd2c0637a1 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c669f2dc-f51e-4028-a9a6-ecaeb470c7bc phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:8c8db7aa-047f-419f-af97-74b4e25ceb74 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:aff2c301-b3d5-4ab3-8eec-3ed8308e9b39 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d5d70623-ff6f-46b8-9433-7621e26a622f phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:e13cb206-d63d-4786-a1a9-6d31f58eb9ff phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:997540e2-d02e-4aa7-8280-6a2c916e8855 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:3204daa9-0bfa-4658-b8ee-55ad0a127f2e phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:7e4e7791-15a7-42ee-9961-1248038d041e phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:40138fc2-b37a-47b1-a724-9b2a7e419531 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:ad04e23d-872e-4a19-964c-0a2eb2402a83 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bee4bde4-43b6-4a77-b721-2dce8f12c632 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2884b9b9-8bf2-4ca8-b400-92d7e35135a5 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2406eccd-6c94-405f-83bb-8fde819dc866 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:9059a339-2a15-4c62-a6ff-d50ae762976e phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a2fb5ca0-f0c9-4f26-b360-85433a4df7b8 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a865b7c4-73ad-40fe-8c81-7582b1d1f8d6 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:fca42e17-a061-4c43-8b0a-2ee665eff7e2 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:65f531db-b4eb-459c-9120-67b686f9172e phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7ff6e219-085c-4b18-941e-7e3658cb922d phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:509b1575-b79c-4e49-b378-b27304f35364 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:9029b062-9ef8-476e-abea-5038469f8cc3 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:325ec712-b9a8-48f0-ac38-e69f5ce593fc phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:8ece46dc-f0dd-43ad-9021-289af33d099a phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d348b56c-3065-4132-ba1f-5b646726f134 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:50e2a6e1-854b-40cb-af2f-5073a3cd5893 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:23200c00-ff77-425b-baa4-2177b46557f7 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:84a85886-70bc-4f20-a7cb-771615d1eeac phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:eef3c47f-0549-4c15-8f97-546d2fe11a0b phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:3117efd2-1fd5-4ff7-95c5-f2c4362ad43c phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:eacb41c0-53c9-446c-b5ca-a74ff1bf5568 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:c73454c8-0c4a-4c09-be0a-ad8bf1cdbc5f phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:38413582 uuid:12c1d9d1-8fab-4b9b-9ed3-78fd33861b6e phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:dafa251e-cd7c-4ec4-bdcc-a8b9146b1205 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:38413582 uuid:10649406-01d2-4110-8efb-c1c95e59bfc8 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:62ac5153-103a-46d5-b484-5e7ea0b46953 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:300eac7f-4f17-402b-883f-2812b26b566b phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:8b52b142-893f-4dbe-8c1c-437e3042690b phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5003f312-d913-43a5-be93-86554efc9e6a phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:fa540acf-cd8b-4fd8-bf01-2fd5eb88fc7e phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:70f45e4b-c04c-4090-91a2-74578e91174f phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:3751dbb3-627c-4204-8a44-c358c9648c75 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0272359d-af4e-4fae-8ec9-e94f62db2eca phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:6360aad7-2524-40e3-85b6-a7b892b4c506 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:cb8e5a54-8b3a-45fe-98dd-e9ecc9b14b9b phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a672dbee-c7ed-452a-9693-d96b72f1d1a4 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:726c18dc-0289-4e0d-b5cb-57f1b4b369ad phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:9eefe3a8-160e-4dbf-bea9-26535ad8575d phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:2c1077f3-8334-4d71-bd9d-f898141b654f phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:0a9466a1-c2f8-4b91-87f9-e09e7f1fb654 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:baaf08c7-3475-44bb-a576-4368f9ab2173 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:92311e8f-5c29-4d9e-9766-16ac940e18d2 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d26bb9e9-6655-4a88-8730-ef13aa74c151 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:fda7c6a3-b907-46de-9920-f52e59ec3413 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1723e522-a097-4b50-aa7e-d5cac1baee4c phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:38413582 uuid:68935aed-b89e-4b8e-b04e-e47ad47c1594 phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:467a0b2f-9ab8-4786-84f6-512206001a6d phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38366623 uuid:1009629b-6e86-4ec4-9653-e23536adb28f phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:d1974f44-196a-4d35-9436-dde98ddc96db phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:61d017e1-b59d-4327-bb46-c25dc88a56a8 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:aa682bc0-6fd0-4a50-a039-7df72382bb86 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:e69c7fb3-f6da-43fa-bbe7-a291a79fba43 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:8219b782-3805-4a94-9b0a-e5904100753e phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:91b50bf8-0cee-4abb-b16d-56a853aa4a13 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0030227 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:de72fad4-11ed-4db9-831c-c1885ca39669 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0020202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:7a4c675a-d18a-4e3f-8d93-9de3bdf1c25f phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:9e7d4d83-4812-44ba-9a04-d262ef3d9a91 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:b8ea450c-476b-4133-95ef-7cfbf04fa010 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:1d8a7d4f-62f5-483b-813d-b2525e0819c6 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:04918767-d1e6-4bf8-a970-fa31f6994f02 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:6f9e3b70-ed3a-4e58-a0ae-4f8a7b52b1b2 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:7704014c-8faa-4196-a9f7-7c50eb73c876 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:ec528056-5383-4802-b7bc-5a4fba51d0f9 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:a1af9821-3485-4f87-8a8a-c893e4d071cd phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38366623 uuid:72f5822c-f8fc-43c1-a41e-1522e058ef34 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38366623 uuid:05b37107-822a-454c-a486-77788208ea38 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:85e8e552-e12e-471f-837d-065bb788cf1a phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d11f5842-bcd1-45e3-ae48-3fff7eedbb6a phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5be2f5c2-9e7a-44be-bc6c-cd6419e10a57 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2e7e0eb0-6579-49a0-ae9f-de212b814f29 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:1088f6eb-3e1a-4a55-b2ff-54d24d25335f phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5578134d-c259-46e5-a852-bef923cad6fa phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0dd4c4e5-53b4-4f8d-b74b-370814d34bad phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b06bbce6-a589-4475-ad60-6e60e2ab9e6e phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2461860d-a9e6-43f4-8003-30a7ff1768a8 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bc2b9251-5cdc-486a-ad73-d997000c7bd6 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:70852ab1-5816-456a-9ae5-8a0e5a691b71 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5e959611-f0bd-4766-9918-2cf30692b207 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:cccdfdf8-2510-4901-b179-61b7ab498c45 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:a1c3beaa-0f64-4c30-9ddb-05d593a312e9 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:6404cd56-46aa-43a6-adc2-d98284a12472 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:40da11c2-dde1-4163-a3d8-425df3a424ce phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:fd63bd8c-a884-4d3e-b2a8-af2f319bb174 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:92f60c71-43aa-43cb-aca5-4263d2beb044 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:a0a61c68-fdc1-4aea-bb97-031ebc9bd0dc phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:38413582 uuid:9eda6c71-2bc2-432a-a111-a78a18461c98 phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:113f2194-261a-409d-9076-487fd28fd0a4 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bc0d365c-0d3b-4961-8087-5c48a374aaa5 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c5f53848-01a6-4753-9f06-c1e583ae6acd phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:82499b27-a535-4dd3-82fa-c424beec26f9 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0e784709-da72-477a-a8f7-7f8477f63db6 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:67b7df78-178f-4fea-9903-f4a1de59081f phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:407f6496-1015-4883-9211-394bfa0683a5 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:21ad279a-c2b6-4c01-8c87-b25c3fae6af0 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:973e0bff-b00a-4847-b495-8f490d5b453d phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:871006df-9dab-44c3-91c5-46a9ce01eaf2 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7df17d27-a640-4131-8b1c-c572ac07f3b7 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7fd40551-1c6c-448b-ad7c-d29f9877adc0 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:415f2b68-28ec-4ab0-9761-6cefc3549406 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:1d481fbb-547e-48a1-a0d0-4bf7db3cf957 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a617d18c-11b1-4bf6-9fc5-aa89f908671e phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:40b4557c-d8b8-4c97-880a-c66c3531b7d6 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f0fd38e3-da74-49f8-aa3a-73d7392c9e3c phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:ab9d76bf-8fd2-4020-a3ab-a76696060456 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:241d7959-11ad-4e80-882c-5a5d65f21128 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:61d0f673-cf15-47da-af43-e353fe4ab59c phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:16266aa8-33ed-4b28-aa26-401818ee322c phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:dbe5a1ce-6a84-426e-bfab-b287eb6d6de1 phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:38413582 uuid:7cfe747b-32e1-4537-b8cc-4202ef18b6ec phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:b5cc305c-a042-4c4c-b54f-593a306fd90f phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:38413582 uuid:f9bdad87-0e6e-4b53-b440-81f872179f8c phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:4de49252-08d9-43bb-a053-801822d4839f phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:615bf19a-77b2-4754-a9fd-c93a46bc304b phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:45cfce2a-75e5-462b-9b9d-2b47dc85eca4 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:3d23c70e-a4c4-497d-b676-666fb492825d phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7f1e2a72-0e35-461d-8354-859f7a46ca30 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d77eee39-3204-46d2-901c-4f47c84e17bd phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:be5682dc-6659-4080-b108-b12a78bb118b phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c7cb18cb-ad81-4f34-a2d7-a3e8912745f4 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:cb90666f-8fc7-47ab-84e1-1796a6a9f7ad phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:7d979c9f-ef41-4cbf-b720-29111ff9474d phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c55dbd15-acdf-4efd-aff6-6d414b96a8cb phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:0b4203b3-23c5-4146-b3c3-da64d3d7223a phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d01fcb65-5699-404f-9734-76f1699a6ca2 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:ac147bf0-42a4-4fce-aa3e-fd7c363711ba phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:b04ccdb4-6a21-4d8f-b8e0-316733ea7e4e phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:22bcf9e4-e56f-4d56-b9ee-f704ddd8fd2e phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5c6cedf0-9d12-4139-8a1c-b6295aa8fcd2 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:9d16fced-9132-4fcc-935a-b5c9a4493b75 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:2b401bc2-a823-4938-9edf-b8cc1f065455 phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:20ee3273-0ede-4e83-b208-6b1c57d41cdd phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:38366623 uuid:0a9d4565-7614-450e-bf11-c5e988c8f699 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0030237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:38366623 uuid:143c2b8e-2c32-456e-bc67-6f842a20ef12 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:e1587a0b-dcd9-455b-aea1-3cbcf02e9f00 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:7412db35-56f8-44b2-9977-2dcfa2f71751 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:0c3c05f5-5b60-43ce-91c6-5e0e04a2237b phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:6e2f784d-180c-401b-a625-027c4a4db485 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:9c6e87bd-eaab-4a5f-8596-ac78a6e9759e phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:43a78fdf-b71b-45fb-9cc4-a5ac6ab54c83 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:4850c254-6b70-43a0-a98e-dc7073b425c3 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:8c0a1586-618d-4bea-9395-a50c7bbd2894 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:54e9560e-a050-4f76-8760-55dc3b8a5926 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:0e4e2c20-04d7-4778-bc0c-2d7e8c4625cb phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:d329cf8d-6b22-4c0f-a807-ce11ed62a9f3 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:67dd5020-5bf7-457b-b504-500efade8fdb phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:bf863a0d-d4c2-4100-847c-0ee5e9b1ce17 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:bad482d5-02a9-484b-ae62-d530a9acee2e phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:38366623 uuid:62cd2fea-5bb0-4171-87ff-b531046f251e phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38366623 uuid:32a9ebe7-ce60-46a8-baa8-21bbdf021e66 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y6M infores:phenopacket-store PMID:38413582 uuid:b2b13351-7d2f-496f-aafc-04bec80960f0 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:0a849c7a-5693-419b-a9ab-e98f907cd4aa phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f115f982-f0b1-4434-86b9-0e29b748d13d phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5fe59a98-7f5d-45ef-96ea-2a1143c81bf8 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:91f85b3a-0b0c-48cd-9c84-4ee07fd5b397 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a1e750eb-ef36-4ae0-abd1-e1af298a4dc4 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:31b54cda-ed50-4a14-b102-1d2ad2f509ef phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f1eacf32-32df-49f5-811d-4f7e0f98538e phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:984c8388-67bb-457c-8a31-3b7cb478e466 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a3883006-d37f-4dee-85d9-c8d9af590d97 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c277c22f-1aa1-450c-9756-795f568f0520 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:114b6980-e86a-4efd-8ef8-9a7061a45da1 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b7344ce2-d5b8-462e-881d-75f3ccf82fd4 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:9da868ea-780f-44fd-bd00-4d01a7752dad phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f2228ec4-79eb-4e6d-9b2e-9a82f0a1db06 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:32ef6437-e5ad-47b9-887e-25ece33dca01 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:24edbd19-033f-4643-9e74-f23cd8d82246 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5dd212da-8822-42a2-9fb7-b2c5d660bcf8 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:d7f7868b-d0be-4b40-9145-a7e91d6d6f38 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f7bf615b-267d-4288-b029-97eeb226201c phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f9667399-99c4-4984-ac7f-b33d3c551274 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1044a6cd-4f77-41d1-aecc-27a2d5171516 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:8d60d758-0f33-4ecb-9eb0-8d799c48ba56 phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:c33103db-bdcb-42c9-83d5-5e064643376c phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:38413582 uuid:917f9228-0a1e-4bbc-9b30-0895c1970682 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:9d7a0eca-5ae4-4d7f-8768-40d1c721d3c7 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c58f0397-784f-4772-976a-025a3e7af41c phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:ba999f19-ec5a-49b1-8dbd-f332e46c5f41 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:e8a36572-efd0-49e0-9e4c-793edb73cb1c phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:da3a7f80-c869-41b2-9c63-5fb6b4e797b1 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:03bde444-666c-4e47-96b0-e83ef363edb8 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f1cc2fed-d56f-45f0-b7de-acad1237e7b4 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5f3a561d-7ec0-493f-a7f3-2511e26863e2 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b0b9aa69-31f5-4e0b-be75-37e740e11cd9 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:6ab0d2ff-e35d-4f98-9ae0-a8f85bdaa517 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:da0d0a76-ae8b-427f-b2ac-c5c810d67ac7 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:b300ca3b-0bb3-4ca8-86d7-d99055eb3518 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:7a005fdd-39af-49db-aaae-14602ad119a1 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:3496b4ef-6c5a-468b-a2e9-61e09b3ce342 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:4d2edf48-8f13-4597-b5ed-2ab01c7c940d phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:8faea0ed-0686-4696-ba52-f52e01a00015 phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:38413582 uuid:7e690f56-610e-4468-bb31-d4ed3619b18c phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:09361e5f-a764-41d9-abb3-030f6a039dec phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:38413582 uuid:4b856b3c-ebfd-4a10-ae00-f0634f39e4ef phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:08dfe8ff-5ba8-4083-aebc-a0e60f128c05 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:8614a2af-bae6-46f1-818f-4a2d70fffe70 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:946b4373-0cbf-487c-8548-00103dbe3dbe phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d961f1d5-4560-49b9-b157-a10f8ab6ff35 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:02009198-5fa3-435c-ba6b-7d07c7879900 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c2fc91a6-1d4d-46f3-8af6-7b3faa7707a1 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a4b5d76f-409c-42db-8054-873d7f1ad042 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d788bc25-1513-4cfd-85df-78d0f1bdd706 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:04f5f4a6-3b5a-4899-ac7c-e59e4329b967 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f000a8a1-298e-459f-a722-0d6524329684 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:ad4d4fe9-b9cc-4af8-9a23-6acc4da29ee6 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f496a841-a09c-4638-a99b-1fa33f0730a9 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c5863af5-3087-47a2-9d74-4fd4469427da phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a2deec47-3542-4fcd-9872-f1a405844c35 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:953b2f6b-b5bc-4f0b-bcf1-12737667612d phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:dffa6cf1-12b0-430f-99b3-11ccf6c00ccb phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c3da7140-6013-4f5e-aaf0-ea00e10ca0d6 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a000e3da-6aa0-4373-bdb6-8cc37c24be4a phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:09809b09-e8e5-411e-afaf-502f2b605ca5 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f7bbab7d-5b29-473d-bf8f-fe54ca8eb6e8 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:07068f9f-cfdc-464e-bb2c-d48ddf544808 phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:eacbf1c7-4501-4633-8481-1e52ea49d1ad phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:080fa56e-8814-4b6b-8373-266e303bb13e phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:38413582 uuid:830bdaae-2b66-43d5-bbd5-7d31813c98ec phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:f0c74d39-2a4a-4443-a1a8-bf3c5ab995f9 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:38413582 uuid:529d307e-9a35-4cf5-9ca8-bd3fcbcbc78a phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:330994f2-991c-4ccb-b090-a7a5a79db131 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:73bc2595-00db-41bd-bfcc-85f2482388e3 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bf3c30d2-5368-432b-b4a3-f54d386f18ad phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:302d79dc-bc98-4da1-b918-5c35f6a7adb0 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d19a76a4-2ece-4273-9641-f7b308185916 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:59ac16b5-e5ea-4c87-8004-53f03ea0c4b2 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:52f8a9aa-2139-4a47-847e-2dbe8eaf591f phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:972f6f54-1802-40b7-9d33-c2f4638e3641 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d01ca981-0a3e-44a0-98f6-9cc3ee44919f phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:8efe53fc-ad56-4320-b5fb-fd5b28d74e7a phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:9e13a220-4b70-40e6-9f4c-777f108503ef phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:aa6c0ace-0c75-443c-9a9b-4a4010ac9c33 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:95ff0b0b-648e-4a58-a4bc-0cd1e5c7b6bc phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f19e1e09-dc8e-4139-a535-8bde1ae39382 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:0b6f89ce-1c13-4580-bcaa-1c1e1242e917 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:5c66e8ce-ee4d-4bee-a80c-6a8b42ea036e phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1ff8e5db-af8f-45a8-b664-b8bd6595415a phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:c8c81931-6462-4cfb-8e5a-af1520fc63f0 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:12ec86d6-8233-4272-9644-340278c8d924 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a39ea1d8-09e8-484e-ad01-c3b5399afccf phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:957fb682-5472-48d0-ac7f-798a677eec3e phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:99ccd165-71d2-4d24-9074-85d55665c2b7 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:f41d767a-3410-4431-9fe5-2e5a9056b168 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:bd2e07dc-9ddf-4358-8c4e-36a20cb32deb phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:c4c0c8b8-205a-4e4f-a470-0affbfed52ce phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:d35b66cd-1b30-489a-a94d-3fd55478d6d2 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:2d367d11-c328-4b28-b212-55617595dbad phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:53007a67-84d2-48e3-8074-0b0af99fa22a phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:53c9aadc-1cc0-49bd-b6ce-a1d4780623ad phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:6745dae0-d898-45c7-85fe-e30193c082e0 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:ab76bca3-26f3-485f-9d7c-77108edf85a6 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:4170429b-d876-49d1-a0a8-9455413fb683 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:2fb7ed25-fd0d-4ec2-945a-e847017ff0a3 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:0908249c-9235-4c2a-995f-ddcf6a6a5470 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:9b89f0a4-adab-4e70-9903-433b62530cb5 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:8fcd98dc-b29c-44f1-86a2-90926712f1fd phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1401b948-360e-412f-a0e2-d3a4e2c3cd06 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:59fdb732-6834-454f-929e-7e3a3d33f4e0 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:759a7baa-e5f3-45b1-b401-21e1108cce93 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:f232995d-751d-4ed7-91b4-25ce5f20c7d3 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:ef34310c-4566-4065-9cb3-cae18b09fb48 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:e0e95235-162f-4fc4-b0d6-87c4dd109958 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:e8207927-a2dc-496b-b63b-e63db467a1e9 phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:38413582 uuid:7a844828-d47f-4f53-a646-522648cb706c phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:165b66da-aeb0-409c-a092-1a277d94cb27 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:38366623 uuid:e70201d0-c4c8-4461-94c6-27c94260738b phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:38366623 uuid:875368e4-24bc-4f0e-b0c8-1096dc3b9592 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:6a3a1d9c-08b2-4581-86df-1054aa068f08 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:a352fe17-08c5-4a1e-8c53-07b52db68303 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:c6737fd5-aaeb-418e-b94f-9523308a70f9 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:339716a6-3049-46e9-bac0-272e868d866a phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:16324ebf-471d-4100-add5-418ce0b30392 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:994f3bad-f961-4c46-b874-78103be53aa3 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:f52fd3c0-43ee-4f40-bd35-1be01a9e9eb7 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38366623 uuid:9f889f6a-f018-4784-a274-660b4531b9af phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:0f649094-f260-4520-a106-7bbfbfc7c23e phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:54e09f16-c15a-43fa-87bf-8fe6f9a3b44a phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:c7af2f1b-d038-4e3e-b29f-2d65bb0b73f8 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:cd8806d9-0831-4ce1-a582-d054c89d3818 phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38366623 uuid:4872a78f-240d-498c-88f3-a021068b50ae phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:38366623 uuid:1ed1e602-9eb9-4971-8a4d-3eca10aedc6b phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38366623 uuid:b5fccf50-2144-41c6-9495-9872adcadbf2 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:38413582 uuid:8d33c716-a57a-4d4c-bfbb-80ce1a433d6b phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:583feaf7-d0c4-43d1-86ca-a09a69403eed phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0008959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:53941c3a-0583-4544-bcf7-7bcc32911534 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a21246b8-527b-430b-a5eb-c563d2b8472e phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:a905cf40-91c8-40e9-b689-a86859f01706 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:62a39532-7722-4101-8ddc-2e9ae652af7d phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:41af25b6-2a21-4c27-bc5e-1b1feb121638 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:b842116b-2b18-469a-aa42-9cd5f9e0371e phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:3210f47f-9395-4db1-bce0-a220cb6bd3d3 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:fc68c2c0-c6f1-440b-885e-a2bd87a83e1b phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:732aaee6-6fb9-42db-bbc0-0b1196b1719c phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0030234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:5685feaf-2ab0-467b-ac10-4a07d7b15058 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0003707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:18be1663-b929-44c0-9a4f-3496ea7f3dbd phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:934ff1b0-edf1-44f1-885d-d198bb4f7411 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0000519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38413582 uuid:225faaee-0e84-41bd-8f78-4ef3bc14ab12 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:54e2555b-1c4e-4d75-bbd8-02fe1055d238 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:faeba266-5e10-4a25-911b-bda352b4e7bd phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0200012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:1e7b4bc4-62d3-492f-9afc-997b1d2d78a1 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0003306 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:96df38b4-3780-449e-ac6a-6c89db83d51d phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:b2739c8a-3c6e-4c40-937a-33999e392f1d phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38413582 uuid:fe249f25-2f0f-42c8-84ff-53d49ec5a9b8 phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_disease OMIM:620793 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:7574544e-1209-4f1f-b534-75ac8decac2e phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:has_gene HGNC:14245 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38413582 uuid:8f0dc991-33d1-4501-b241-071478ebf98f phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:5ecc577c-26dc-4b86-bb83-f1739a01f36a phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:6037d31d-c36b-4dab-bf6a-97875168773a phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:f1eeec90-6160-4408-a981-86c92be2d663 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:74aeb33b-d72f-4adf-8a86-4cdc0d6028c2 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:23eaa609-95e8-4047-8dc8-f5b662ca282a phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8680df3b-0b19-4381-9845-c9ef3b98fedc phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e9bc94c7-e175-4174-915d-cae158dc1bea phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:ae3f212c-f0c6-4561-8356-079b8140fb24 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:08dce3e8-c886-4c7d-866a-6dd1333a1df8 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:658fbfb2-8ce4-41e6-b3f8-955e31042faa phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:d7c39608-d74c-4079-813f-e46f55e758db phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:ed46b50e-1bd8-4ecf-b3b3-3523e147e9f4 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:57af82bb-391f-4688-8d24-8d8f86dba3ff phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:a8de263e-bce6-4ff8-9335-a1719e681562 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:bf2e37e9-70cf-47f6-9be5-e6ed987ece29 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:4fd8d1d4-f7c0-472b-b1c4-9915dbd516c6 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:63034c95-d8f7-4fe5-9e4d-f80e7a887614 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:f4ae9a27-f03f-4374-be96-9c685ada4b9c phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:2db15c27-d98b-4193-b5e0-871495c4c7b9 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:8b034764-4320-4143-a95d-d4a17b15c6e3 phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:17ecba3d-aa2d-4edb-898b-95743742d334 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:4eea2d05-98b8-4f48-a708-5e590150e2be phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:747296dd-31e5-4f6e-82a8-d97e24aa8345 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e49b13b1-3201-4d7d-96aa-2717bdf115fb phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:d6c67065-170d-48c6-8e9a-490ea42d7f95 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:5f942c2a-af93-483a-a1eb-6b0959c71f1e phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:42b4c3a6-a1cd-4dca-95a7-e627814e7ff0 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:362099ed-50a5-444d-b599-e51e2f75be53 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:40de24f4-c343-4f92-8668-8faa3365342f phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:b3e40546-53ac-4507-b7cc-3cc543202ace phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:ee0a00fa-8207-4436-91ed-fa48b61dd2c2 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:761ef712-5159-4373-b256-e1238cc04bdd phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:2c909a82-b276-4ce2-97d1-e1e9a5c9afa3 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:2b303a45-776d-46ab-81ed-2f6feb7e3ee4 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:7ac9bfdd-8b27-4490-ac4a-a8ac930e709f phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:4a97b85c-4adc-4a6c-a58a-cf72a3ce5fc1 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:9d39257f-aedb-4cfc-8741-d88fecfd53eb phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:beaa16bc-e6ba-433e-8334-665d84af95d5 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:e019cd31-dbbd-45dd-8734-ca1049f497c5 phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:91d6327f-7af6-4cb0-a783-bca77c9f580f phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:1bc52fec-bd3f-4b91-8fc1-a5e80816fd3b phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:6153d634-20d6-4cec-927f-ec497897141f phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:608ace62-10df-499f-975c-18dc5c5d3004 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:262be11c-8276-4258-bf75-a5c3126623df phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:bccf8d63-00f8-4071-89fc-00f7a8634e70 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:21917029-e62a-42ee-af4f-9c5183dfa884 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:d286b72b-6a55-4da6-b746-5f11407e603f phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:ee710f04-e202-4e91-b72b-17d5923222fb phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e6e0031f-af64-4d20-8f54-45d8b49504bc phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:44d03f18-b3fb-4dd6-b9bd-46a66cc6df51 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:dc0fe2b7-b3a2-4b88-8478-00d621bae91c phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:9f210028-de19-49cb-b0ec-54f59e0aacce phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e921af35-e0f1-4f78-94f0-ecc346092a1f phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:45de0b16-a2fe-4ffc-b758-d4eb26718a23 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:049e0ac3-9a9b-4c54-b035-05a954477fd2 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:86ab4c45-a1cc-43dc-928d-45a0573ab9c9 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:8a734b4b-4789-49ca-bf30-2543fe091270 phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:f2f36694-3fa1-473a-88d9-f69f2b49f77b phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:629a9afd-c266-4c6b-afd2-33077ed9dfe4 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8517addd-f5ae-4eb5-bdf8-fa35df3b52c0 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:b2c1dcc2-7280-47dc-9df1-b1722ce3cd77 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:3f32a21b-4464-4d59-933e-3d37658a5433 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e0b757a0-68bd-46a7-be08-e910a98ed3b8 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:a90f2a0e-eeb1-4722-9aeb-283e3b46c4b8 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:82a49e3d-0c5a-4cf5-a6c7-d77bb054cf7a phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:805c3e0d-b601-4a1a-bcc8-65cf14263e3a phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:26d0ea50-02dd-4c9c-b848-e7693c32a451 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:6d7f40c2-b81a-4a87-b5f6-a3640d7ea2af phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:1acc9a82-d8db-422f-8b6b-34f02b43e481 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:ff67da63-9e69-4e05-b94b-b477a6f69707 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:3269dd04-2008-4bf9-abcf-8fff92f6298a phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:b9b87566-414d-4e26-86ef-87dc1837400d phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:c9d052de-a115-48a9-81a7-1145e7e58a98 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:6f1f1016-5446-42dd-882f-c0af26c02161 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:ed334c57-f297-40e1-81a4-1345513fc0c5 phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:c8a11ac0-afa8-44bb-ac41-bd3c4c897ecd phenopacket.store:SNX14.PMID_25439728_V.2 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:ffaf2841-c8a4-4478-80d1-8b2702ce4d64 phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:12e7fb4f-8b8f-42cb-8214-96c2b0efc63c phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:98c94eca-5018-4e02-8c9e-a1e3aae7ec54 phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:0db7150d-158d-4cae-8f9c-e4a7edd0350c phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:ade4a738-f935-4c2f-88e4-ec6c6694fb48 phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:e82d745a-856b-4598-8404-c360a7167677 phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:29b6d609-6db4-4d1b-b839-bb386897bef2 phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:3188b55a-fa64-494e-81be-a4cb373e3f61 phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:cb7bc70a-4c7c-4418-9072-d51f9c637e9e phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30473892 uuid:c1bb3e9b-a93d-4d40-b55b-28d36ecc18bd phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30473892 uuid:b4009cfb-f6ea-426a-b08a-cde10c3ad46c phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30473892 uuid:06cc256a-b21c-4d54-92be-90f635202da8 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:9cbefeaf-4ebb-46ca-a461-178878774dec phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:a7ed48ad-f7c4-4784-b263-ec07d96a2295 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:09b98243-e5d8-457f-b797-6e65df11a31f phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:651cdcd7-607e-420b-a84c-7953ff86d18a phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:4b477242-71f7-43c1-a6b5-8da03141f69d phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8ef30ec9-bc74-4d43-a00e-1487fb63b2b9 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:294384ec-2156-49bc-aec5-56c7bd2a084c phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:7f31bc50-8825-4fd8-96b6-d7acdaea8d43 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:3ab2f479-6077-4d64-a786-9b997a6f2c71 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:ffb24f59-fac6-444f-888e-56b4f065e797 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:c94eb7d4-af70-413b-9c49-ff64667ccbbf phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:80f1d344-267e-4f0a-beef-84f8d036ba81 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:1fca959d-0997-4e34-822b-aac4e99481cd phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8440ff46-863e-4ef4-8da0-696255ca24d3 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:854486e2-7e1e-43c0-8011-4e513aba573e phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:d86e08dc-c12e-4de4-b876-4b30e02cb3a9 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:b651c643-478a-412f-a7ed-2dc6b59ff045 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:28f5e1c0-8f18-4a85-ab8f-7f7ccb004cb5 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:b250544f-64c1-472e-989e-44823163a9b2 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:69a6833a-e88a-4e1e-a0d0-04f32eb9ac55 phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:c52a6fc7-8aa9-4547-91d8-da19c22898b5 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:93a92dcc-ca50-4acc-acf0-b0a5a332b2cd phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e148be4a-4d76-4166-a5de-19fbf40bbeb1 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:9010f7aa-c1ef-4a9e-9ff7-f758d7391963 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:9146fb1e-9e5c-4f25-a2da-4b404af13ea7 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:252991dd-fe16-4838-a608-0c5aa42c3e2e phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:22df938e-0c09-4501-99c7-8f94890eb68d phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:7c0499ef-1432-442d-93ee-575d9859920b phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:ad015701-41af-4438-a65d-7522d1e691d0 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:7f881bbc-cb9e-4c8c-a025-b3ae9f774893 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:366be251-dc19-4ac0-bb19-752a55d56f7b phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:52076b9b-b098-4eca-842b-178cfbd8b54d phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:cae6de9b-fa33-415b-bd7d-6e4bdf109c82 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:3499a241-e696-481a-b201-bd3aa90cab6a phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:903ab772-c5d9-45a5-a0bd-800cb9c3e346 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:d1e8d17b-0acb-4e3d-8643-54853f43c445 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:e4eb067d-9b5c-47fa-91c3-da2b617aeee2 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:1f0a5e48-9ac4-4bed-a129-a9e72ee1bab3 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:1851593e-5157-4c01-8c10-8088e603ab95 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:0c8eb85c-77da-428e-9902-9320c2687024 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:f5cb1814-98f2-4aea-bd9c-c113165d5725 phenopacket.store:SNX14.PMID_25439728_V.1 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:29b9d8c8-2765-4fad-bfcd-93f719dde636 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:2d812b3a-01eb-40d3-a97e-0572272b22ab phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8c16c12c-ce1e-448e-9dd4-8502040defc2 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:27fc1c10-94d9-4c33-a9b4-9592547aa5d5 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:81ac7a98-faf4-4c37-bef2-9ba545fb3715 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:2bf59543-484e-4fad-bd54-375bfa09885e phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0009185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:49cbb522-b068-45be-90f2-66c9aeaa7ab5 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:24360c7c-e396-49ca-987f-2e642ff94f97 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:44ecbbb3-e92b-410e-90dd-c959ed3e0eeb phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0002996 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8843b027-bedc-4820-84bf-3dbe900c5aac phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:e831d433-e60c-4c70-b458-320d16765c86 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:8a4e7e6f-4ff4-48c9-89f9-9562a55306db phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:3fd35bc2-c7e4-4573-ac99-dfbca7671b86 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25439728 uuid:6dbccc33-87f1-48ac-b02a-6b5554e9cc7f phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:10429191-6e90-40a1-8234-d179ca66ccdc phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:a1f4b5b6-f0e6-4723-976d-80f41f3bc91d phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:d1f2c445-0b74-4b8c-96bd-24e201e2ea93 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:39f08e84-2862-4b20-8b25-5baf926e848e phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:89672435-5f09-4f00-91ae-b9c132777491 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25439728 uuid:fecde3bf-b843-4fc3-9f06-4a0d3e815821 phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:06053aa1-860c-4ce9-b170-54e63316674d phenopacket.store:SNX14.PMID_25439728_III.2 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25439728 uuid:f05ebb78-0952-4011-b5fc-12da9f95107d phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0002783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:30473892 uuid:821239ca-6dc9-45c3-87e4-8ad90796064a phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:3594fc14-02b9-4c2f-89f6-6b169a29ba9a phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:ecb4417c-6d6d-40f3-b6a4-4450524fd72d phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:b1f616df-0b13-4c28-b230-dc1b2fa916d5 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:86be632e-8e5e-4c00-9c08-e2019f8b044d phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:894b2ff1-c275-4f38-883f-3caa053309ae phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:e9359651-031e-410b-af2f-d0afb81cea0a phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:2d2db450-2b52-4817-a6af-1ac97c4e3418 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0002780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:878a0010-97ef-47ff-b76c-8f4bb2ae3f40 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30473892 uuid:3b64ea83-d5e2-493a-8632-20f232a19c3b phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30473892 uuid:98182d80-1cff-4806-b32f-2c40094edcab phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30473892 uuid:618c96d3-93df-46ee-95be-f678b92321e4 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30473892 uuid:1eb1a614-a54f-401c-a811-247007459f76 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30473892 uuid:755a111d-ac37-4c98-a04e-8ae33ca36968 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30473892 uuid:2d374456-4309-490b-8675-4d35bebc35e8 phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_disease OMIM:616354 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:30473892 uuid:ed4f1b8b-ddc6-447d-a1a2-dbc61132ad6e phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:has_gene HGNC:14977 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30473892 uuid:7b1c8b7a-3265-44b8-a31a-09e103a8b09e phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:0f0301f6-7cfd-4fe8-82df-f455a8c55875 phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:e8ef0516-db09-4ebe-9461-4fc8f3caf006 phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:78d6736b-dbda-44a9-b237-f7df0efd18d0 phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:95439c17-6b47-4a87-bf36-6ed12569138a phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:e2a2cd99-7b83-47c5-8286-67f29079b459 phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:00077000-e3d4-4c67-8280-93fda7aaa604 phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:36890397 uuid:b1277ffb-e5bd-49a7-895d-6fbd8108ec0e phenopacket.store:SOCS1.PMID_36890397_P1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36890397 uuid:9aa32f5d-0b13-4a0a-9d23-4cbe2861c953 phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:0dd92048-f10e-4e47-95a6-4df385d56ca3 phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:f9dd163a-7f69-40bc-bcd3-a75ceb2b6423 phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_phenotype HP:0032154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:c511b2db-5414-4dcb-a977-40e34fbd3da0 phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_phenotype HP:0030880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:07360c81-5075-4d9e-8e63-56dd3f796d6e phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_phenotype HP:0000458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:b9182578-0b1a-4451-82c5-6881a076a63c phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:37156989 uuid:b2ed88fc-ebb4-4c48-9b9e-b178b20b2406 phenopacket.store:SOCS1.PMID_37156989_P2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37156989 uuid:1c30e374-afff-4dfd-8a59-eafe33877625 phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:10974186-9ae5-4632-b615-4030e611b5ee phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:a311dc63-31c0-4189-a943-26f3e5683afa phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:dbc470f0-28db-496a-8a01-f8c00e4a2bd3 phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:5ffa628b-2834-44b2-8ab6-f418446f966b phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:0bfa23c7-fd9e-4a5a-94f7-83c0f8b2f625 phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0100686 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:abf265c6-b9c0-4c9f-8ffb-7613b9c0cfdb phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0025084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:a0f65aa7-e3f8-4a6e-bce2-940d2e9a7503 phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_phenotype HP:0031292 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38157076 uuid:fb60185d-64ca-4b00-99d5-2b067fe2f6bc phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:38157076 uuid:1727f7ac-4c7a-4bad-b0d9-a258996a9971 phenopacket.store:SOCS1.PMID_38157076_patient biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38157076 uuid:e5051721-02d5-4fc1-96d7-75cf1572a018 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:f9f409d8-5980-429b-b303-12176c017340 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:e1246e2e-0f57-4d37-9ec1-8441144a5ebc phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:ab3b77eb-cdbc-42eb-9b53-f7b316a66ec8 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:da90f9ef-3233-43ff-9796-69d9977aa444 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:e8e58b07-dec8-4fa2-9116-2a2c2f052776 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:ab7b6fc3-f56e-49e6-a128-b0b5f3e69066 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0030757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:a5dd837b-360d-40bc-9460-d5b078fccacb phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0032275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:56d5abe0-a460-4890-92d3-74344a426bc4 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:2ecce642-2d57-4ae2-a593-4414dc9bed98 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0007418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:8e5d8772-a587-4af1-9d60-55678b156b1a phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:f114e9da-3166-4057-a279-e01b5b7f5bb6 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:18664f2e-1ec4-4b4b-b6fd-967de3b0484c phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:5336a0ce-3af6-4fd9-9b25-81be66c499ae phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:34421895 uuid:e6b5cd04-8698-4257-b79a-c50fe7936b73 phenopacket.store:SOCS1.PMID_34421895_P1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34421895 uuid:bf415464-e37b-4213-9e90-b0d5da9e152c phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:434fc00d-e7c9-4ac3-81cd-ea859164e952 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:470f062e-5821-4371-8131-50f9e42ec110 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:1549b332-73ec-491a-a543-aa3a12dcd613 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0000388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:b559df83-86da-4f0c-aa0c-41466f1c4773 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0000155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:ca938565-e359-43f7-bb2a-d808234fb4bb phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:931b22f8-459a-4a31-abef-e75a8e404c12 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:630bd0b5-575f-4690-a63f-9dd1f0e0812b phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:f95b36e8-c640-47d7-81a7-f3406b5fdb87 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_phenotype HP:0006538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32853638 uuid:a378efe9-6611-4d9d-90a3-63935a6989d1 phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:32853638 uuid:e5f18bc7-0726-4bf2-aea7-83ea93631dcf phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32853638 uuid:17e681c8-48ae-47e6-a1b0-ea20bfcab29e phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:2cb07a3c-ea9c-44cc-9a40-17f32047296b phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:1f7922ac-f3c1-45f7-b362-434ea12add44 phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:bea43b4d-595c-4210-b48f-38661c0f74ae phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:014701aa-8f6f-4e8a-a4f2-e557062d610d phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:3fda12d3-922b-4c31-b325-3b368fc94243 phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:7a95a206-9e2b-40b0-a2a3-1ab9ba8bf1ff phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:296d0ce1-04f1-447c-803e-29ed393f9fad phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:7c4dcfd1-21ec-4148-834f-9c6d7ea3929c phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:39e12caf-6b4f-4fac-8882-9ef552d0af5c phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:d22b9d39-bab0-48ee-ba6e-b21f111f359a phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:f5556f17-5e57-4511-b77b-7ec05c470186 phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:2e6815bd-fe3b-4e42-9846-52a956177a4f phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:443da8b2-ea67-4b17-a42a-8a6027db2943 phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:aaed0218-f10a-4d25-92ce-db62ffb51927 phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:33087723 uuid:9a370f04-0bed-44ac-ac9f-38a2b409f5a2 phenopacket.store:SOCS1.PMID_33087723_D1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:f52a5d77-b909-47ef-9250-a2f4caac807f phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:e3ee3dff-c5cf-4aef-b3cc-a9b651c1d384 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:4fa380f9-2015-4004-8820-223be86c3493 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:b1a62941-e487-4a49-9cb4-ea5cfad4261d phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:9d048d35-cf25-496d-9ab5-e5e11c144b91 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:808c593f-e2d7-4854-b8b7-bc852c5ef551 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:0320e4d4-12d6-4630-936d-b7adca814a17 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:a8312885-ce84-433b-bfbb-055109757175 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:809f09fc-9e6e-46b6-aa7d-462ed9592e2e phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:69586d74-91cb-48ba-9b76-5ef16e8863ff phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:c784a285-2cda-4d0b-aa37-75c9fc1b85be phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:5e4482ca-7950-4e75-875c-0dc12a30620d phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:b5db2923-ec95-47fd-918f-bebfe49c22ef phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:e8058125-f9c2-4ae6-b434-8937e72c79c4 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:a552d5c4-ef86-4696-a784-2c981ee43244 phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:33087723 uuid:26fcb2c1-45ae-4cef-bc9d-fc85dc2939bb phenopacket.store:SOCS1.PMID_33087723_E4 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:8b9d7e34-48f1-4300-ab18-39c2ce8c86c9 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:5a2adaa6-2d85-4f56-9352-e50ea6c78833 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:e1d00e85-0a29-4ddd-a9c2-1230b0f548a1 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:e97b8541-6dd5-4acc-8611-6bb46e504297 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:2994f1a8-fc1a-4df0-adbc-e6a3d5357a44 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:6000344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:56e71aba-5253-42de-9a1f-904e8e4ed885 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:db90774b-60b6-4b03-8d13-c5cdeda20451 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:4ee9bc12-857b-4008-8f1d-0d63105994d0 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:9ced312f-e0e0-4f38-974c-fd03980f0b6e phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0030757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:e5eb11d5-e3c2-4c05-8bb5-c3bbf316d1e5 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0032275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:84d10db1-1047-49ba-bd63-861d2dcfb2a5 phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_phenotype HP:0007418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:a0ed98df-0bc5-420b-8113-748d5355b44e phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:34421895 uuid:3acb8c3d-a8ab-4b92-a359-937a7e6f00ab phenopacket.store:SOCS1.PMID_34421895_P2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34421895 uuid:caf176cd-caa8-4c80-bb54-69b7262354ca phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:67abe06b-fcb1-43b9-a16f-198731729935 phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:3ea65aaf-ca7a-4860-8e07-fa4531c7dd0d phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:afdd8f02-c49c-454a-9b9a-d2daa5c6ac92 phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:2736e17f-7580-4e4e-938e-309413a7f79f phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4df44834-2ffa-4999-a79f-ef00de79c02f phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:55eba632-9bf9-4989-9ce5-8916d20b6aff phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:040c2f40-9cfa-4369-9604-3bb09e7ba7b0 phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:ec38fbaf-04c4-46e2-b9c3-6cb0f3ebff98 phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:242f2718-b95b-471e-9be8-4656dd0bd5c5 phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:5e304525-65ed-4256-b86d-6e098fee603b phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:961cc217-78a2-4c9f-a68f-899f0b18b1ac phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:81720dd2-3f52-4c85-9a5b-c59c3625a7dc phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:2de0dbea-9c8a-4f34-9226-a6a536fdb8bc phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:6b1615ab-16ea-4c0d-a9ba-a9951141a511 phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P44Y infores:phenopacket-store PMID:33087723 uuid:c3c154cd-e489-4b01-b78b-3875d9d1624e phenopacket.store:SOCS1.PMID_33087723_E5 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:72cf4df8-4cee-4b0a-8e6a-10cdb15c69e1 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:1b78f8d1-5761-483b-8e30-cb5f87856115 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0020151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:5cef8f5b-c2f6-4b9e-934a-22b0c2567e4b phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:84fba30a-6a27-4380-93d0-61d99d376ef0 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:99f86cd1-410f-4a9a-9281-bb29480419e1 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:e46ae83d-fd72-4ae0-bd96-7a5d991f8bce phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:1fa9fb7e-fd22-44ec-954d-b46c0ed07e24 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:ae3bf1b3-d073-4aee-b719-7b2b9755a0f5 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:5d0cdce4-2a2a-40be-b19e-d1991d65aabc phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:45ea6fac-3bad-47e7-8b63-6526baf1c294 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4019cdaa-ee76-40bc-aa48-dd97b35ec531 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:351e6ec6-02f1-4d93-9f33-73088953e820 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:3a29384a-0ef6-4a59-b057-59f44416d189 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:8c5b8667-d329-465a-95ae-6f0944297ca3 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:fb339ac5-582c-402f-a666-e7a986db50f1 phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:ae86cc00-25d6-4eac-b505-22926935b64c phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:33087723 uuid:c74f2efa-cdee-4eb3-8e93-2144143f1d0e phenopacket.store:SOCS1.PMID_33087723_E1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:5c2717d9-717f-4031-95a5-a0d3336c3ae4 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:cfc2037e-761e-4de8-a09e-3a09d86725e0 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:9fbddd42-ebc6-4458-a6ff-218acd82121b phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:00dc03c3-ea88-434e-9366-a9bf1b8d1a19 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:08913c22-0878-4a6a-8124-0eda74068d01 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:b644b353-1da7-4c04-b626-6ccf50bd1ba3 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:3a567314-10c2-4f8d-9d96-a62a9c51bba3 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:f699a1a9-591e-48b9-9e84-0818bb3d4004 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:2445b38c-50cf-46f5-be65-10a60cc5b39f phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:6a43ff0e-bd84-4cd7-b3c6-c00774ef391c phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:bfdddb90-c008-4e3d-91eb-c16eb876324d phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4977448f-f29d-4354-b221-2309787dc2b0 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:6f9ea870-dd83-4e7b-ad0c-406ae8a3949c phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:d7820070-5e9b-4cde-b058-859ac2f939c4 phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:91665bef-6a81-4235-9091-161ae8281b5b phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:33087723 uuid:b484afec-0811-4914-b9a1-64bccb3d12ea phenopacket.store:SOCS1.PMID_33087723_A1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:3031502a-6630-4167-8908-ff04b7f4617f phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:94a976dc-15c0-4795-94b7-2c27a80926a4 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:e86b7941-5638-4b0d-aee0-f84e4bd5568b phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:a3bafc04-f943-4ff3-b50b-6b58b34ffcd0 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0005523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:d2d82177-b38e-4c58-93f7-8cf8daad07b7 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:34c51655-1491-4a1b-a380-80b70d980466 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:72197fdd-4c39-4c04-8763-2702eeddddf2 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4a5d9dcb-8a9f-45e3-a794-8ade8d85d4aa phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4cc6f653-d8f3-41fc-a87d-bad36868dc9f phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:77da94d3-41eb-4623-b1a8-24a1d952dc54 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:484ca8a1-742b-4693-9005-41cad57c6584 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:3c859136-cb4a-42b7-bad4-305b5b990e94 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:7389d707-dd4b-411a-a970-9413e227857e phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:2e9898c4-005f-41f0-b6f3-827e16acae7e phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:54173e0f-ad2a-4332-8f05-d1d94ebfabef phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:bcb3a4f7-30da-4c18-b223-1ff6a8c1f7ef phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:c8856010-0392-4eec-8315-0471ed0c65c4 phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:33087723 uuid:c1f65d2b-41b4-4376-883c-df34b8ac8c2c phenopacket.store:SOCS1.PMID_33087723_B2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:f4e5414e-dd1c-4c65-abcb-9b078fbc9853 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:22e086e8-b87c-4e1d-a018-febccd222e24 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:ff0a78c7-7e8f-4db2-b14b-c2679b674f1e phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:57341e62-38d9-4df5-85c3-ec19bb012526 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:9e7dea6c-205a-4f49-8621-b76c3eb4b791 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:a34c953c-10d9-41e7-9a0e-79e656096505 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:9fb6fe63-1c2b-4ff2-a78a-703f1a4959c5 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36890397 uuid:03035e21-e06d-41f0-b1c5-c1b057271995 phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36890397 uuid:d5f4ee27-aa6b-4e89-a67c-e9eabf348f0a phenopacket.store:SOCS1.PMID_36890397_P2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36890397 uuid:47eb074a-1258-4edd-8756-5ce1e8547fca phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:2d9b03e1-5bd1-482d-9d4b-a41740b8db31 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0020151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:07b27d9a-ea7f-4fef-8b38-97082635150f phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0033040 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:5e2fa546-0ca3-4905-8f0d-4ffa31c73023 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:9d469a35-b365-49f3-acdd-43d523388ef4 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:8f21fe52-6310-4360-b778-74cdc697f05b phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:ff30b28b-7776-4127-ab74-a56bdd3682dc phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:c75baf2f-16d6-4d4c-a25b-2f36edbbb349 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:7f58e66a-58eb-4f83-9f26-086ed4a16a46 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4e11c578-3289-4f4c-a573-a5c49015f5b2 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:0762583e-ea53-436d-a44c-6f34baeec9d7 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:029b2d05-03c8-4640-8228-d2ced3478fc9 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:d1d45c62-479e-4794-bf55-12d2221d1a9b phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:71fafc0a-13a9-414e-9f1d-0044b5fc212f phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:675baad9-23dd-41f7-8449-65fd823ebb68 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:64db3a92-efe0-4ce2-9afc-3c7a2b96ff99 phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:33087723 uuid:4947c207-99d0-42c8-baf8-50f782a6306d phenopacket.store:SOCS1.PMID_33087723_E2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:449be5c3-099e-4fc8-990e-b90461575318 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:baf59956-2aa2-4c0e-8678-82cb09ed395f phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:d6f1b24f-57cb-4bf7-8021-1beae6984371 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:2b416f38-d8fb-41f6-b088-972e87d3a162 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:070de164-4504-4c32-ae50-d90dcaa002da phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:fc96cf65-df0c-4cff-ba2f-1a701db60d0f phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:4f31af2d-01f5-4ab6-9508-d253b520c4cd phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:6812eb79-783a-4e17-8c93-42b4551e28cf phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:1c4fd792-9564-4345-8ebb-4d5aa4460ecd phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:f08de136-7701-4f71-8fd7-4e98149dd14b phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:29435420-a470-4ba0-a415-847787760a57 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:e861ce54-7dee-4039-90c4-8397c295eca4 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:8001cc69-90cf-4164-9a21-9f9b1fff32c6 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:e0c62351-b019-499e-9386-8effcdbd0370 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:0f65e4c2-e7c9-4462-9e7f-2c6b81c79881 phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:33087723 uuid:8288d672-d728-4939-b75e-932bbb2bd91a phenopacket.store:SOCS1.PMID_33087723_A2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:8076d7cd-c8d7-489c-ae8d-6c2260d94e94 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:24fbbbc3-5a38-4eec-af45-f57c8f222ab4 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:a6b9e09b-2962-4fb4-8934-f69079a4caed phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:9b654195-8f68-4635-889a-c76e5f804176 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0000388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:f263b08c-8ce9-4f4d-ae70-a79612176c3b phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0002090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:df2057b1-a6e9-4562-b07d-749480e49876 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:a3115342-8f6c-412b-b06a-0d5227a7af4d phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0006527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:c8239b3a-052b-4d1f-a9b9-921c8af769b5 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0000554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34421895 uuid:cb52d62b-c959-4782-823a-bd025ead1332 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:20d31194-2b35-417e-bd83-21524dcd9b10 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:f97ae64f-ff65-417e-837d-c21e3a9cd4c5 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0030757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:353f1331-11c6-4099-a3b5-ff7229f38e51 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0032275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:9ae60d03-58ad-4306-9541-c13f6512ab44 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_phenotype HP:0007418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34421895 uuid:5074135c-378a-4c92-aa08-0118b5dd7718 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:34421895 uuid:4046dbd0-8dfe-4495-9640-b0c253fdda36 phenopacket.store:SOCS1.PMID_34421895_P3 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34421895 uuid:5aa0d767-4b7d-4d85-8759-5f98b257d3de phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:df840d9f-81f2-4f25-b3a7-df59be1ed3ec phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:a71d6e82-7357-4874-809b-b17782a02203 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0005523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:5a584614-2b2a-4e99-ac72-47aaf17dc14c phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:5ed8c9d1-dad2-4847-a53b-6c52d0abdcb0 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:16f3e97c-9c29-4d64-b838-049054386fa5 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0006538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:0d0db826-6a1c-40fd-aa39-37e47d8c25a5 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:G13 uuid:aaa00af1-537d-4068-be45-57e347df263b phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:b4ad1891-f8e6-42ac-9b40-1e9590d8136d phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:72cff2ef-17d1-47f3-821c-e21665418c12 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:d3791bad-200f-4352-b08c-ec2d72c033f7 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:48d9b483-7582-4fec-b8bc-086673cc882c phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:950cfaed-003f-45a2-a19e-3c79d39c969d phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:bce0cd45-7b89-46d4-b277-239563cee38f phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:1d4dc492-9510-424a-8c3f-de31617d20b5 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:9078a459-a409-404a-83dd-26b4599e524e phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:56269409-5c79-421b-9ca8-9af6978b53d5 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:G13 uuid:a7738fca-32f5-4386-a52e-6d0f15222b5e phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:G13 uuid:6f9c1622-8920-4962-a55f-897522650957 phenopacket.store:SOCS1.PMID_G13_B1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:G13 uuid:ee772d47-4e8b-4866-bfbc-1ad7b0c01a39 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:c84f0ded-6b59-4993-bca8-7a58b003bdbe phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:23b7dfdd-494a-4e1c-b81e-5e0c121c30d9 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0005523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:f10b726e-28c3-4868-9c5c-076498ea229c phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:9da96f9c-6037-4fbb-a904-4defb2cec0c0 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:0b9553d5-fd1e-4e2c-b695-9b8825938147 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33087723 uuid:8477dcfe-cac0-4594-ac83-d7be6cb095eb phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0100646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:b23806a8-1be3-4a11-a79e-44fd7bfa6778 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:08f012a9-6712-41eb-8994-0c69159c2004 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:f8d3351a-1826-46a1-82d8-e053c0b686aa phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0002725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:44f7cbe9-47b6-4032-a447-4910cd506fd5 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0012115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:bd97eb5a-86c5-404a-9ce5-41dc7ef054af phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0001733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:72d8fd7a-b078-4a5c-9fcb-bbb65107b556 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0012189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:7efa08ef-6efa-41ac-8732-968468610def phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0033726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:12f0fb85-2740-4057-b8be-4cf7a92e1901 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33087723 uuid:7154093a-931f-4e9f-9120-fa56ba8825f7 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:33087723 uuid:a990b3a2-8e2a-4efe-8bc7-64beefd1f3a3 phenopacket.store:SOCS1.PMID_33087723_C1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33087723 uuid:3876e295-a4d1-42b5-98cb-c794faf0fbcb phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:077ce0f6-053a-48f6-b223-08dbffbd55fb phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_phenotype HP:0003765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:81957f76-ad2b-4731-bfa0-6e89d311429c phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_phenotype HP:0000388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:9260fffd-6b15-4eeb-979e-8db21be6ad90 phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_phenotype HP:0000246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:2a1dbc7a-f27e-4fef-9b61-7eb4d911e29d phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_phenotype HP:0025452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:e499da28-b088-45ea-ab16-24c704e11a50 phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_phenotype HP:0100280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37156989 uuid:111714b3-1abf-4a11-b874-1d2522c54853 phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:37156989 uuid:b055b362-64ce-49fb-b706-7e236b0cb42e phenopacket.store:SOCS1.PMID_37156989_P1 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37156989 uuid:661f4ba8-4cd3-4c36-858a-999eed529245 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0001973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:52d77a61-6c4c-42ab-b0b0-4f358bec04e5 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0001890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:6cfecbe8-5e0e-4963-9096-7103cf2f029b phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0001945 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:d2a2b8d9-8d7a-44be-8081-8c782fe6445c phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:e64a265b-93bd-4c85-9010-db50c736e191 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0001904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:95f1a297-4291-4a5f-8ac8-d2e693a9a8be phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0001888 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:060e00f7-5566-4a27-9d22-95fdbd590322 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0004313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32853638 uuid:0b2686fe-5264-4866-b843-3b273040f8d8 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_phenotype HP:0006538 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32853638 uuid:adc9347e-f800-4df3-9e9c-3f4a02e1aa07 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_disease OMIM:619375 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:32853638 uuid:d1f20b6a-98bb-4758-88c2-d20723690544 phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:has_gene HGNC:19383 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32853638 uuid:55a14169-f378-4b9a-b06d-dd3e5c938a30 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:30236613 uuid:a812c3ed-ae6e-4b05-803c-30a7bc267f04 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0012473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:30236613 uuid:4d0e4383-c75b-4800-92f3-8f5bbe1b3323 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0001283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P66Y infores:phenopacket-store PMID:30236613 uuid:322cc7fb-8737-42ec-8890-1712b26b1e80 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P66Y infores:phenopacket-store PMID:30236613 uuid:c8ff9cd9-1567-40ba-a846-b311dd3da969 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P66Y infores:phenopacket-store PMID:30236613 uuid:0c64bd7e-d46c-4091-9eae-d36a4631559c phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P66Y infores:phenopacket-store PMID:30236613 uuid:6825220c-89ec-4d20-b7d2-11d6de5e9be1 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P66Y infores:phenopacket-store PMID:30236613 uuid:df6073d6-d713-452e-92bf-9b32852c24a9 phenopacket.store:SOD1.PMID_30236613_patient biolink:has_disease OMIM:105400 biolink:CaseToDiseaseAssociation manual_agent observation P64Y infores:phenopacket-store PMID:30236613 uuid:108487f5-e014-405c-bd72-a4b621c05a4b phenopacket.store:SOD1.PMID_30236613_patient biolink:has_gene HGNC:11179 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30236613 uuid:ef3dd61f-0caf-4f80-9381-d3e284947f42 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a68ccd02-6adf-4ef0-b5a6-4e8f91dd4fa1 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6e01432e-498c-4914-b65a-1535e29da262 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:308e4638-1b6a-4a6b-bee9-98f0a5f6dd29 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:01ceff13-696e-40ba-866d-d77f76033935 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:41b79f38-c701-4034-a089-e6016f595f69 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c4286f9b-f92e-4742-8ea3-f60059c5df74 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c0b918fe-295a-4d52-9b04-0512445108ba phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4aef7293-f1fe-40a1-aac7-d23e56be3299 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f35d662c-5d7e-4513-b8f4-9bebf034f56d phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2d31f05e-bc4c-4838-a2be-2c7832d0f25c phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:74bedac6-06f3-471c-9454-d5802b131d64 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b8381c7b-1b63-4953-a6d0-062d4bda804f phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:29aef030-aad5-4ac9-915f-bb39f1722271 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b3f30a5c-c459-480a-8c79-31a719dc0d5a phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e3a8c28a-87b3-4e47-8062-a1168b3c2aa8 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:72d8df57-d9c0-4ef3-83ad-247dd10494a9 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a6079e77-c23b-4db8-93cc-7026e2a369da phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ab9bbf50-27b8-415e-8e01-23c13cca59ec phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f215c05f-0d7e-4998-899d-ac69cf5d5ef6 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6650fe2e-ef31-4bc4-8f93-5bd3395d3c3e phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ee109e88-193e-4a80-aae7-b028718896ba phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8370e98f-27ac-460a-8399-2224bcccb3e4 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:16bfbd69-8c3f-4419-beda-edcbe62817d9 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:af8ba31c-3208-4565-ac66-5cc525e117ff phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d2a01353-b193-408d-be9e-44ba91bbe35d phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9491460b-e612-43c7-a5ae-68ce70487fe9 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8fbdd0f7-f91e-4500-9331-68509cd06c38 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cdf21ccb-309a-4d11-9f39-40ca7b96ca60 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7ed95eef-ef33-412b-ba8f-fa7277b7d20b phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dbb444d1-c1e1-45d0-9da8-c533f0dadcc0 phenopacket.store:SON.PMID_34521999_31 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:04caeacc-bb48-4f55-b303-5c65d7b09c1a phenopacket.store:SON.PMID_34521999_31 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b9e928c9-7454-40dc-9a7d-a14ae7e5a0d2 phenopacket.store:SON.PMID_34521999_31 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:7ece150a-f5e9-4693-a227-4700db9919b0 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7507422c-73b7-4543-bdf9-6fc540001b44 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5ce50052-4c39-47f9-a858-12f9866f6426 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9ef6296c-32f7-4955-add1-463355578507 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8829870c-a2be-47b9-b953-93e21c64f54b phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:22ea9333-2f69-438d-b4c3-e985c93bca4b phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1c52b752-6b9b-49f1-b256-ca1142e68113 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c42c5e8f-d7bf-46b7-afa4-ae621d27c317 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:36bfb8f5-3eb2-4050-805b-794dd161b76f phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1c4f5ee4-3314-4f7e-a7f3-a72c39b17f9b phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:50d4ead0-99e1-4983-a14f-9b4dc13118d4 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8889258c-213e-43e1-8ceb-d0491c1d69fc phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6e947c2f-bdb0-4c06-807a-1a73cab4484c phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:24260456-60c7-4b32-8f35-6d6817d370d0 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fe8e8782-d825-41c9-bbfa-65aa3ceb6d6e phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8533f168-9e9f-44af-a9d2-fcb4f4df996c phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2df0addb-f68f-49b4-92fb-dbe308caecf4 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:446f5ae2-1222-4e01-8703-2b9c5f24e701 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cdfdb5ff-c5d3-48b3-80a9-cc4044508584 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9d716a12-f243-41fe-b4d7-a83bbce3a6c1 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d67adcdd-4da7-4db1-9fd7-98277caa0383 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8fc30e17-9717-49e3-ab16-3b23caebcdac phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d0219a9e-937e-4654-861f-6d0edbb9683b phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:54d466f1-0795-44b5-8a10-4a0eac66bb6e phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:411f8ad1-b8e9-409e-8201-086f305996f6 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:792e92c8-3d0d-4d93-8f4a-aa6402a40737 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:092099d1-e8bc-449a-82a6-e02c7ab5e781 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b726f2b5-4a53-44a1-ace0-39ef25a62164 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c2310beb-433a-4473-be8c-2fb2bb737aa6 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a463e6cb-c43a-45fd-aecf-eeaaa1e3ba26 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d20501b3-dc9f-4a99-a72f-0044cf676ea2 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:89fa80ec-63f8-44e2-8dc2-5148c9f898cb phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8b021127-88fa-4ab3-9500-9e7a1a66fd41 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5227c564-967b-4ba0-aa0c-d780da7f8eec phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ad7cad48-0492-46fb-889c-10a9ba4619e4 phenopacket.store:SON.PMID_34521999_32 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7e86f132-3e14-4cd5-bb47-4a7c45a35464 phenopacket.store:SON.PMID_34521999_32 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:15953a0e-2a61-4e8c-825e-9331c01e3d64 phenopacket.store:SON.PMID_34521999_32 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:a31a0c78-dddf-47dd-b3ff-e392c2e39178 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d74bd5e8-f3b1-4b50-b535-f7515c045e68 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cd0bbba3-95b0-4b4e-90fb-ce63d17cb1b1 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:598a07f5-727b-4f64-9854-2bc5a57c9dd0 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3cf7802b-e7a1-4062-8e0d-6361116b9fd1 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:70d193ff-16d2-4ff5-8ec6-65c51549158e phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:74cc2b2b-ea1c-4938-990f-8ca7b88ec7bc phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bbe5eade-af3b-4608-b28d-14ddb4b51637 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:72b7d1f9-e091-4898-86ff-90be0417668d phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f43eedbc-120d-4adc-bc92-f7a56d10d095 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:64081121-fdfe-49a5-bdd2-5e9ac470931b phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0cfb2342-7f01-4938-825b-5b56829d2d78 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:88597b02-d854-4e4a-845e-ed1e644461e6 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b90c1dec-a5b4-450b-bc7c-9efc3c8914bc phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9c2d541e-9d12-446f-80e9-b5e17011d8bf phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e48c156d-4f77-4c84-87be-706caed4febc phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:219fd1da-3fe0-4339-b071-a655461b357d phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f22ff1bb-597b-42a9-a3b7-9f574f17753c phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0ab36dcf-bf5c-4582-a81b-2cdccb1c684f phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bd15cb1c-aaf6-429a-bfec-e9a46a4e67fd phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ae367a91-9101-42fe-a961-ac005a071e8b phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1e86d283-953a-4f7c-a0b5-23277fe85dfd phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3648320f-b1da-4193-aadc-b6a8c512de30 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ab83fdb4-2652-4bec-800f-6b6703121942 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:35fe19fa-5571-4b97-9a41-ea5ee9921857 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:88797fd7-03da-4595-a785-b727f0d1ff60 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c4b6abb8-b47a-4ec7-9da9-63a43dc8e7bb phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1ffd2ce4-aa23-4b94-9e17-e82b16651c8e phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c74f16c2-38a0-4d2c-9a3b-2328f7bcec83 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fa0b7dc0-505e-456e-bda2-38d46b5260ee phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:37a29584-9b95-46a4-9a2b-d244fc311871 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:07040a48-a93c-492b-818d-b08ae193ca0b phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7b79a916-9bd1-4785-ad57-926a0213dc15 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:de1e6b9a-8944-49ee-b3ce-4bb0ee99ebba phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c9609cd9-ae33-47c9-b58c-c709f8459ad4 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1839671b-8786-4ae6-bf90-98cd06257ee0 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d589b3bb-e403-417a-8313-c6bea10db489 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d6944e61-f30e-4211-b2a1-c74bb86ef349 phenopacket.store:SON.PMID_34521999_4 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:efc034e4-dcca-4b83-b076-3f472a48a368 phenopacket.store:SON.PMID_34521999_4 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:7339c5c4-aeb6-4756-8137-3a9038f10d60 phenopacket.store:SON.PMID_34521999_4 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:8fded744-0d15-4dc5-9fe4-f85a4eec69c9 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:373c21c3-b179-4b25-8e40-852d3911c323 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:906ad516-18a1-41b2-8cac-297080560d9f phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d075d890-cebe-4fb9-ae98-b0252a69ea3d phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e9113bdb-be4b-4b10-8458-0113c6f9e140 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:91267cbe-017c-467a-a99f-2104ed60866e phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0edcbd9c-ccac-486b-beb8-6e2025eb49b9 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:49ec49bb-9986-4d0c-9f8b-71442c571811 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7c959786-63c1-433c-869d-9523d15ee2ed phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7cbdeb9f-6a63-448a-94b6-9b8667dac8f1 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8861810c-6637-4b0e-ae24-ae2af5d5eacf phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dd308a0f-f4c6-4d36-9754-8f38bc46a8cd phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d230cd6-e376-4b90-abb3-100ed9fd3a39 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:39a48486-010b-4dbc-b776-d8fe605dc0dc phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a70b06c5-e8eb-4288-b714-c414a6279a82 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:10fe7139-652b-4822-82aa-b5225a4f019e phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9e2cb496-6feb-46c6-8224-3e960364076e phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:160a2c7f-c60b-4bdd-a0d1-dde512e880d2 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:306778d7-101b-41f6-879f-a2d079aa69cb phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6c4ca4c1-8e85-4228-95fb-76fcc46ef3b8 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:eeba0960-e1bf-4263-b0b2-c2fd48d2d6ab phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d85a59f0-3008-47a3-8cac-1d54097e3f93 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:733ab8e7-2d1a-4b54-beaf-9967348e02e5 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bc559a0d-79d2-47c2-8415-003b0fe28e63 phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:662cad75-1cee-4186-8858-fc39243ee4de phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1d631484-ab13-4d89-8a37-b9278d3fd49e phenopacket.store:SON.PMID_34521999_13 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d6daa390-24d3-41e8-8b3a-7c57f7848714 phenopacket.store:SON.PMID_34521999_13 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:c5d09e60-b742-48bc-8f3c-650ff2aebc82 phenopacket.store:SON.PMID_34521999_13 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:538cf5b4-c628-41bf-a9a2-1ae249672f18 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:494aefb9-3cfd-436c-a987-50528507ff36 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ed0c6cd5-aaa2-45ec-9465-d42940f9cc2c phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8499a513-d520-46f0-8bbc-3dc2a6abceae phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:23d7692c-cf2e-4112-9340-69222224cebd phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fa9a5d3f-6724-4c07-a853-c831732221b3 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f17fcb6f-3520-495c-aa2e-cae69bfc0928 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3c8e0a84-b0e0-4059-a33d-6c8aee412a1a phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9fc24ba2-7ab8-4718-a123-02aac5ec520c phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4f13a311-73c3-4c85-9ce1-b64fd284dd90 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a0b53faa-fd11-460a-9d89-68c6bb8bc9ef phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:537d7862-5a9d-491a-a6f6-c3f7ef0b05d9 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ba9307d3-47a1-43ff-86b4-cdbf1617e97b phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:94c24e6a-6c69-4771-a029-4f10f252cd13 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d04e2169-2c79-4db5-8c97-5de1fcdbad11 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5ac1e055-ee7f-400b-b05d-dc76c6624f8c phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4e34ebf3-3da1-4980-9d49-38d1a2e5f68e phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:de89c9db-afdb-40f0-aad8-451a640438a3 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a6f5a1d6-6a5a-4495-8373-2704d94860ae phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4a80eebb-ccd5-443c-8900-2dbb60c963b8 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:46b53a89-3e78-463c-80b2-f92a329ef73d phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:eb8bf115-d8ce-4512-a7e1-4916c9c0c9d6 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:da3223c9-6ecf-4602-b38a-4a5d1f19ea69 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:910bd8da-e101-4ac0-a1d7-daf7d77f0432 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:095be7dc-f37a-4466-b1eb-72339a760e00 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d63b6519-7ae7-4356-95e0-402bb2e13d04 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:38f8c635-526b-4d28-8a74-073c3880725b phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dca0e16d-68b1-4cfa-90c0-4bc05293b8a5 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d3645558-48fd-40be-806e-1c56c4bdb6d3 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4e1b8d6f-5b3a-4a2f-8d7e-5e5ccb515a98 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a373c5a5-4f69-469d-b053-9427fbf2a0c3 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:255e2293-5e2f-471b-8ec5-096b7f774893 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6e17a0c5-0530-4128-bcd6-b496f702fd81 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:724a35b1-98f3-4ad5-9720-e4945977ceb9 phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:009f9ded-1dca-4bae-9a20-4af2ab478ebd phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:48d7e062-6b33-417d-bcf4-89a17f4e1ebd phenopacket.store:SON.PMID_34521999_43 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:89e2cd21-ff26-4d9b-8284-9b6ccc8ce440 phenopacket.store:SON.PMID_34521999_43 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b92b1591-63b1-4cc9-a4cb-2e1231531e5a phenopacket.store:SON.PMID_34521999_43 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b479310f-3517-490a-adc4-94d7895365aa phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d4c8f0fd-89ed-408d-9b3b-61c436dd84b1 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:987a4318-0992-4b34-9e7f-f416f600dc19 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:acc62b60-3357-4dff-8dc4-65c1a52523fb phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1d23c5e4-d22d-4b54-ae17-ef9b61f1e682 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bf28439f-247d-4e4f-bdc3-4a30f2ee993f phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e08500df-58c7-4310-b905-bd24207fe47a phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0db5cbb8-ad96-4a7d-bd71-56ee30c9cc34 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4adae1b3-294f-4d0d-8d27-28dfe19a83ef phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:375b38ff-046f-4434-a725-ac313904c4dc phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1f39a355-f2c6-4a7d-b70b-b43bf1b4be13 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:91d3a9ff-8db4-4d91-9e0c-1dc766c100a5 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c1d831bb-546b-4e92-b139-e28a148ee836 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c03a4f38-32b0-45af-82af-a5a72d5772e7 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f6203516-6bad-4386-98dd-83e62da92b78 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8e54f34d-06ef-4ccb-8b5e-563298d189a2 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:90ce5b97-c498-4f90-9240-7ac3f5ad5e38 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:13956094-828e-47ba-b784-3219085b4e94 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7ae5a8eb-15fe-49c2-81dc-9586dcd4d330 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0f39257a-c2f9-4f7d-9d64-6ea9c22382a8 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ee91d8bb-9a41-4cc8-af9f-1750ed2355fd phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4a04e0a2-2365-4525-b06b-42d6fa9f8865 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6529d390-7f69-4364-b641-8b897e632916 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f511a89c-70b2-4c04-9b81-fe28209c5712 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:412b1d19-1011-4c34-87e5-319c9e98a1df phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a15c2159-20e0-47d3-a782-b852217226e3 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6d58c07d-745b-4e10-be9c-3517622d12db phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4fdac377-f429-4e9e-9013-75ec9f3b73d6 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e8bc352e-660b-4458-94b3-53bb4e7878af phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a0743a1a-4d2b-4b13-9756-0f908218e742 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9c55572c-35b4-430f-8d16-79f885affb5f phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5724b5ec-6aa0-474e-a2ae-f34b2bfb7e1a phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1cf9126f-a3f2-4a58-b2bf-cb8bad459df3 phenopacket.store:SON.PMID_34521999_49 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d3e211a4-73ca-43e4-9eb3-a7b985624576 phenopacket.store:SON.PMID_34521999_49 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:3bad1f8e-30e9-444f-a977-8731bf9f3bac phenopacket.store:SON.PMID_34521999_49 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:76e35710-4a5f-410c-bb98-e5fc5232e0ea phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:06c55039-9381-489d-893c-37f61fd2c857 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bf124aac-4a1c-4b04-adfb-e9bb1204d491 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c9004b34-e99a-45e6-8b3a-60ab6cbe179d phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e305b21c-fb70-48a4-8eed-6832014682fb phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cca9ad82-3139-45b6-8905-c507d3ceddc7 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:55e89ae5-9678-4f73-a43b-b43b43a5171f phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bc8da64c-ef68-4cf9-9be1-c5273f890c24 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f98679ba-0731-49e8-853f-dd8b3370c116 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9674bd3b-b8b0-41f0-9475-688234b4930d phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9500f611-1f4b-49df-96d7-bd0021200d04 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d642453b-4866-485a-9ae2-057ebd21dd8c phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9ec0f1e5-a966-4373-b1c4-de7b1a6183e1 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ad58ff8c-197b-4085-b838-847ccd962f14 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:27db75df-d3c0-46ce-aebe-ba6e1606b5a1 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cf1feb75-e451-44f0-b893-6a599a7973a1 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3b788bcc-4ba7-4cfb-824d-84b23f898719 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:21ccbb3e-8758-41e5-9b6a-2cbfd168e3df phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9d92406f-ec9f-4d6b-aca5-1a16d98f1741 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1c9d8bf8-ffac-4025-934f-2a69f977c85e phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9988e158-80da-472a-a8de-74c0970b8d50 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce1db559-1de6-4edf-9a04-aadfc68b2b8d phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:535a749e-a502-4a5d-ac10-214251b0c81a phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3a714f17-83b8-4a74-91e2-9338e95c85f2 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:801b2310-6220-4cae-81b9-f4d971edc6a9 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:38754f65-2700-40ba-a0d9-33c501784ad0 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9b1b9e93-1337-4631-b8f5-70c939235584 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f0f7c12c-e0a9-41bc-994c-14fefaa50657 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6778ad31-2bfb-46ef-a6aa-b52afcf8fae1 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:946ae14a-392f-4955-87f4-1f3bac321adc phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5ec07f73-d77b-466a-8f13-b412037e6b4b phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0246152a-01e0-4777-b29b-3cf08e0e4f1e phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:224d9ebf-f6d7-4520-9978-fb9466e327f3 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:22f201a1-abe8-4587-bd47-e54ec26cabf6 phenopacket.store:SON.PMID_34521999_21 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:189f1a96-bfad-4e95-8dc8-c6a585ab068c phenopacket.store:SON.PMID_34521999_21 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:f9fc551a-dccf-440b-8b9b-28ea2c8c4c1a phenopacket.store:SON.PMID_34521999_21 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:2b88aca4-da88-49eb-afb7-d1647ea852f2 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fa002a46-a01f-4d72-8444-ebcd21982591 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:65043a0c-f4cd-4b0f-b272-722f49c90af1 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f895d098-d149-4595-a449-b2676ab01356 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e10cc33e-6e99-446f-8684-bdf13a80a0d2 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:507fd568-313f-4701-81b5-a19918098c46 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:00d57884-0b4b-46c8-be5f-ffe0ea312be6 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3a012bc0-46f3-4f60-bbfa-e7e72b404499 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a6335adc-9649-46ac-824b-66caccb93f35 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1594ae14-6cc5-4574-bedb-12de5873b345 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:eecf63d8-300e-4c23-9a51-d62448bcb2a3 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f31eed7a-8420-45de-9620-ff343d4243ba phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:658f3731-fb11-4f58-961e-5b71ec15e268 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3c909704-8c44-479b-b77c-8948432119c7 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e910e85e-6275-4780-b44b-eebc7160fe73 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1eed9483-7e0b-4e07-9d8c-71f7e7648aed phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f64b5f21-71dc-4fb6-9151-90956aaf0b7a phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7c123b1b-a346-46d2-8acc-01a7256e2d78 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2bc9f2a0-8374-4e2a-975b-ad7bfecffb5e phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:664876fa-9d8a-4d13-a425-b068ea975827 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d09adc4d-1f21-451e-a3a1-a35e8b9f7ab1 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e056c345-2eba-4782-8b2a-40f32eb73479 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e8b805e0-2af5-4da8-8ec0-f5f6a805200a phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b51edc62-2b68-4606-b1fd-48a7f36bc0f2 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a26bd438-7d4f-40df-ad66-82199785d161 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:46882779-e09a-4ef4-ac6d-2b9479151692 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:df6b9db0-b13c-48a2-9209-f16fd7f1c8a8 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a52a819c-dc8d-4c1b-8e61-7dc49e82f5df phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0e41a42f-41d0-48cf-9c7e-0e0af8be80fc phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5d17b787-f975-4b71-b8c1-ce7c63fedc6c phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f9c70281-8026-4772-a2f3-b11a01334aed phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0b0d82ef-77a5-4d43-9548-0e7af1df09ec phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f9ba323d-045a-4fe6-b6ce-89881b85764d phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d2497774-e865-4480-b1df-aa9575490092 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8f075ce3-6119-48c5-a2dc-d79af29a648e phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b26ac96d-7b8d-4be4-90fb-2cf8464e0cc3 phenopacket.store:SON.PMID_34521999_30 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:83d46e25-5751-4290-97fe-d551b8281ddb phenopacket.store:SON.PMID_34521999_30 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:98df6607-ab92-45b5-b045-ee1f912a487b phenopacket.store:SON.PMID_34521999_30 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:56665b42-44d4-4ee6-834e-7e0ea296dc34 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:103db54d-f3a4-43b5-8860-097c7e2f6941 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ba6f8f49-3c1d-4f96-b3fe-91d01c58710b phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:979dc69c-99d3-4578-86bd-2736c5d639fa phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9a4f54ff-2433-4faa-935b-7fc98ceea0d1 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f80a5e0c-ac01-4580-9e91-9d0a242be86c phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:00daca71-04c7-4d5f-a57a-0154ea917064 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:85b5c46b-c9b3-4d07-b4de-3341b6c5ca93 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:279fd831-72cc-43cd-b662-af5d4b4dd04b phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fa6a8869-4b7b-4a15-83f4-d0dfcef2f4de phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6bf39966-7c05-4007-bc9b-117e119c0e76 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d05ec01d-7d51-4479-8ffe-e3aed6805220 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0cea6cd3-d8c3-4982-9a0d-78321080e268 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9cd08703-f2ef-4abc-9bef-bfa92a52c31f phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b44d48e0-943c-44c1-a360-6b2ff3cbba98 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5bc06448-084d-4848-9eee-0b413911e275 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e1dc4827-7965-4f80-ac21-3452dd43d5fb phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c84fa993-42c0-4259-8d7b-26a050a07a5b phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:62a19feb-4200-4054-a4dd-84f2191617fe phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:171bb14b-fbd7-43e7-a8a7-a4c1c4b1d909 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ee86aaab-589a-490f-8b8f-0e2589a4dcf0 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fff63f25-6d13-458f-98a1-9bb32b351b0b phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7405b297-15c1-4485-b4b9-d35e07fcc2d5 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:14615a7f-7c6d-42de-9f1c-6c6014d9a8c2 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:58b37d96-fd18-477d-ade1-d248dfdbe07b phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0343fd5d-9a20-4247-83da-9f2cefb1494f phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:864a11b2-6fcd-4ec4-975e-b411ad2ea76c phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e175ffcf-9ba1-4279-9a3b-50e7abc15877 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5c0ecea0-07ea-4b09-9d1b-84df785b22fe phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b25cc56f-1ddd-4173-8098-68b1d54a62e6 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2cc3ec60-80b5-4dd5-adba-e80c102a9841 phenopacket.store:SON.PMID_34521999_9 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b578cd02-ed18-4d2f-af77-16e1f9f07e9a phenopacket.store:SON.PMID_34521999_9 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:be46f441-4d9b-4e1c-bd7f-7b9b68725233 phenopacket.store:SON.PMID_34521999_9 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:c8dcefdc-9aac-4530-bc48-43cea66f4392 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:33d0a955-e7ad-43fe-bdc6-24178fde5b86 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:24e2f546-0357-4fff-8947-1bd90cfa14d9 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:959b8944-b6df-41b6-9c30-93a36bff784c phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:37822de7-7267-4dab-873e-96cbf90fbff1 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4e050d6e-477b-4b5e-8ca0-8811906c790a phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0054a826-98a4-4551-af58-a886e6a3ebeb phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28edf13a-d7f2-48cc-91a4-8fed021332d3 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5b580b5c-c72a-4fd6-bdb3-d53ccd01b2d6 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce74fbb7-b0ce-4502-9b50-d78839d12402 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:18f24930-07c3-4368-b9b6-52891eedb07a phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:32372726-0756-4403-9dd3-e944f631a1d6 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ef96b722-5460-4950-9311-04e6a0ea894c phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:951a054c-59c2-4494-87f3-cd3810ce46a7 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:15be6005-5a58-4179-9864-92bf5989d0d4 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2a14f7c2-b1f9-4d7c-8f4f-472c87f18e03 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c243c512-c38a-43b9-a62e-ea76cccf1b5a phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d33e378-7207-4dfb-bdd4-5fd66c2ba460 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4d5e7cb4-22be-4f1b-8203-7f0b660caa44 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f228e177-c706-46ac-85ad-14fcc56dfebf phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9affdfd5-dd48-4cd8-9a71-e68ff45144ad phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b4c19408-321f-4c30-88cb-9e038ed8f382 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8bce1ea9-e5d6-4404-89cc-242394fc2158 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d87c02b4-d2f5-4028-a98a-5a62443b40cf phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5e521fb3-d4ed-4d38-8f6b-2e30bc60a54c phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2266bef3-2bff-4e07-8df5-17ac2079d756 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:85529c63-1d69-4aa7-a8fc-69552fb3468b phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c2510e3e-2260-47c7-bd90-e2a7e3b25138 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a46cb2f3-a13c-4c53-a690-3cd8ba357ff7 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9884f280-d739-40d4-8473-d3eccf84e42e phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:eb1596a0-7e96-452a-bcab-76bc9b424c25 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:815f4822-da02-43d3-94a3-525c74a446f1 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6156e443-7cf6-4081-af1c-49a394b88b0e phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bda6bb58-55d3-4474-b811-48dccfbafecb phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:88601c8e-6010-439f-bcf4-87c010410855 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce7e00f2-d09e-416d-bfac-8a4ef121d5c3 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c924fd92-23b1-43b2-98cc-bb7edd90b098 phenopacket.store:SON.PMID_34521999_18 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:65f21421-0bd1-44d6-8cf5-435fe762ce11 phenopacket.store:SON.PMID_34521999_18 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:daa45a5c-bdb2-4c50-bd09-d27f50de4ce0 phenopacket.store:SON.PMID_34521999_18 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:98415433-1c17-474c-a294-2fb72450880c phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a6ebbdea-3641-47fe-b5f6-14cc7fa22416 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2b0b2523-2e1e-452f-8cb2-2faf6dcddfd5 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8cb1f9ac-288a-4be1-b688-6310508b8202 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:84aaeda6-b64f-4ff1-b08c-e90222dbc0cd phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9203b66f-edf5-4537-8c69-1ccfe60624b4 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f9653d5d-3b64-4cc5-8021-8f1ff40577a9 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:998b9d13-b2d8-4c4b-afab-0af62a9f045a phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:785365b2-de46-4f70-8946-3617a547d375 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ae0b4fcb-1dcc-482b-ab2f-12f7a9c25212 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5b8e511f-2797-4aec-9ddc-ac76204272b9 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a5607ea6-561a-456a-a126-34c2d2a6166c phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f5573137-6aab-4323-821b-71af2d38c700 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b6348796-3866-4703-bbcc-0894c0f7b8ad phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:73578193-932a-4176-93a1-e6213a3860fe phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:978d6772-b1d9-4a27-ba70-b15a23f28f9d phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:636f53ef-8f2a-4756-9570-a51632687b23 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0ae885c2-3ae8-4c9c-9ae4-9a73651977c9 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fb4a7823-0236-4d4b-854d-a6c21f588024 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d2e8e010-90fa-4c65-8fb7-37390bac51d2 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6030293d-4e58-4d7e-afdd-9ab59f583afa phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:aec16354-6b11-4500-9f8c-9d16edcf4836 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0b62c870-ad75-4676-8b3a-cddc79ad7958 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8b40894-2e4e-48ef-b886-8ce02d48ef80 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5dc51372-79c7-4497-ba3f-1fe84d08d98e phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:40cd94e1-2533-4c7f-9ced-f85333d16ed0 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6ccda369-3a74-4add-8171-d4035165b053 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:680a24fd-d396-4ca1-a979-81948536fa71 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:59b16c34-c64c-4727-850a-967face05f6d phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:766ee8fc-b149-41d4-803c-48dd177359bc phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dde4c1bf-d7fb-4fe9-87de-5217c8a2cf15 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:75c3ab4f-f657-41ac-b96c-b812b374ba9a phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:948ecdcc-4eab-43b2-8069-a00d09df3312 phenopacket.store:SON.PMID_34521999_25 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4a4d3fed-88be-4384-97a3-1465caf71b73 phenopacket.store:SON.PMID_34521999_25 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:c5d2980d-c674-4086-891a-4f4206ec7907 phenopacket.store:SON.PMID_34521999_25 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:9144d5b8-c4e7-48f0-9e58-c96e144e9cce phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8ff34412-29e3-49e6-8783-fe2b862873f8 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f0a1ec2b-28c0-427d-8639-2e3fcc1948f9 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a8d1e668-7013-4ed2-8ded-b64877275d0a phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:389b446d-94db-4125-8b86-7c785098524a phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e78f1cb4-9b42-4480-9542-6b83b66a49b0 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5bf32414-9674-4e45-8dae-5d9f91345b26 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bedbc889-f3ff-49be-b877-4cb6b58aea22 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:44cb09f8-7b86-45cd-b6c6-1289f8991fc6 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bbea91e5-80b7-425a-99e7-98035e437032 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0b77f447-f141-4ac2-a1bf-6abb8d70671d phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2f68cd53-01ce-454b-9b69-8caa3f872068 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d242e04b-423e-4f0b-a718-6061a09a31c3 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e13b1d66-b8ef-4231-a2ae-6a177d798685 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2106f4a0-c759-4909-a1b3-bac5a2fd1a6b phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:74043e25-ca97-447d-bdb2-a541747674da phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f66acdfa-4b5d-4df1-82f3-ad0ec8010a58 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c719bfdb-00a5-47de-bf29-681f153ac83f phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8d159521-314a-45c0-9df9-384ebcc0b88b phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5bdbf263-70aa-49bf-aab4-c4090960f423 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6720e72f-f8ae-436e-aa20-86f602701302 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fd679334-e6d7-4198-9f7c-73cc32db6b07 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:079d1938-120d-4a97-a4e9-306cf3ed0c1a phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bcb61212-3d4c-451a-9e6c-6d7c977cf576 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e9ee8b60-06fe-41c3-9461-588edafe625c phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3079d329-dbfc-49ee-b879-1ea5acff576f phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d675d622-3dcd-4096-930a-91b57031e27c phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b1b28c7d-d75a-4203-a2a1-e1c1a96a504e phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc94f5d7-28b8-4d00-b0b8-099e46c29804 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dac0651c-f4d9-4374-ab83-8d059baaa062 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:659a3aa7-aa16-4c36-aecf-3c636ebec253 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5eb00885-3f13-4787-9681-171be3b3982f phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ba984f46-f921-40fd-968a-fa13cbdb4255 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8ccdace-b294-4f9e-ad10-0752c4bf7122 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:389d57b1-e0c6-48a0-bc55-b594fd06590d phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:489dd4b0-f054-47ab-a88a-c9b2a6c7d5c6 phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e867efb2-6872-4ff6-bdf6-417470d6b47c phenopacket.store:SON.PMID_34521999_50 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2c89e411-52c5-4313-985d-0bc4d6933ad9 phenopacket.store:SON.PMID_34521999_50 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:fe263449-0f33-4778-be49-e44200b7110b phenopacket.store:SON.PMID_34521999_50 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:bf22e017-93e0-442f-895e-0a9f51567f8d phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a7c0cafd-1dd2-4da5-8bcf-c33059af9c67 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fa6b0d05-f0ee-4e2a-95a5-e750ce5573e5 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6ae7ffa9-91fc-4eae-b7f6-2b6707f5452a phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b3a06cb7-cd6a-4a1c-8035-f43bf3bf1105 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6d26250b-7e20-4dd2-aec9-0922031f8285 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5f7ebacf-cf9e-46cd-b413-5ce89e429153 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3e02baec-c82f-4565-933c-88ac4ced6fe1 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:55345100-dccc-4bab-9c01-7a32c6c41b4b phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e4f4325b-51ee-4f84-aa39-62489adfbdc3 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ea9ff064-2269-4bbf-8b63-feed88eaf9cd phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d8c067d9-2665-4ec8-af91-96acace1ab00 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9e50e633-74a7-430c-9413-c795e7eea830 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7ab131fa-773b-45dc-968e-a18f965d5064 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:dec16585-c763-460f-938c-e7ccb73a3811 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:de7cb151-6713-448a-b3b6-4d7ce9368416 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f4b3b124-f6cb-424d-9811-682b2b9c74fd phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:73dab059-64f8-4410-90c3-069b172641cc phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5839dd14-f715-4a82-afdd-9263b301f78d phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:03a1626c-661a-405e-80cc-915fd5194947 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9eee3f8e-f399-4e8c-b010-6e2d60010b20 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1b96825e-987b-4dd9-980a-c304e5dd7f60 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2f438275-d339-441f-8163-13919cd3dd07 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c61d19bd-4639-429d-8cd9-83ccf21fb3e8 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:17dad8cd-ff25-4583-af2c-75c4a76c0916 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ccfc7a0d-a10b-4fd5-af42-826625f741bb phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:da4df7e6-9f09-4774-8d6c-a9d8205234b9 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2b67f95a-e82c-4ac2-bffe-0feae0e22906 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b1b2dbb9-60aa-4293-9ad1-eef31f06c6d9 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6bf5b371-8520-4da4-b8c0-620c565a1402 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:92a773ab-1bcd-43cd-8506-8c81d5f00471 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7f17493e-599c-43ba-a5b7-ff480cedf7a7 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3f18e524-a3e7-4d2a-b93b-f6493187ead0 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c42dc4b0-031f-458a-91fa-988683a672b4 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:73d917a8-1f8d-4642-8a8a-654530edd612 phenopacket.store:SON.PMID_34521999_37 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:53db2fa2-95a3-4daa-9049-83d087334184 phenopacket.store:SON.PMID_34521999_37 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:4ee078f1-3841-42f0-acee-ca6f1d38f114 phenopacket.store:SON.PMID_34521999_37 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:c43c1ed9-b99d-477d-be99-df5eaaed3f59 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:772b9441-fc2d-447c-a870-006728f886db phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9a472a75-8164-492e-9f31-90c34337345c phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7baba207-fd2f-4aca-be5c-995cbf2352b5 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ccb96b9b-6977-41f0-ad62-a01d989436e3 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f0c4b863-f975-4506-8411-015e11d23964 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:186d907b-ff11-4327-b262-bb4be8eec61b phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2ad90f2b-30f3-46c4-9ace-9dc6679f180c phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a6d129e3-c11e-436c-99ce-0e824130e45a phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4d7300a7-ab17-4197-9d8e-f497717a034b phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:335789db-5241-4d61-9895-1fc3224b0cc1 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:721d1a94-2a71-45c9-b5ce-0c841d885b0a phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:54e901f4-4509-48e5-a5b3-ceb82b909f6f phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0b931c0f-58ae-4bd0-acf9-475cc0a87434 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fdd3b1f6-d7fa-4f2e-aeb1-04c851fc75ad phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:896602ef-7aee-4edf-8377-5223e6fcdaa0 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:96b399bf-db04-438c-8a24-5cc3867042ea phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:789c5eb5-e1e0-4bf9-9cc5-4ffc007f13fe phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:abc27399-46b3-4909-934f-e2a5d8f51122 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f1ffbfcf-89a1-48a7-9d80-527c54aae748 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0099336c-996c-4a59-b3a4-64dba45a6db9 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1c4fa703-1d5c-41b5-8f52-4a1882d778d5 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b7254dde-43e8-492e-b8ce-2a6caa2dbe76 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c7e8df46-bdfc-4aa2-a807-d5a1a79537ca phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d3d68d9f-ae94-4439-8ad0-ec14b863fb26 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:89aace0e-7f40-4a2f-b689-0d280a72b7c3 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:682798dc-e757-4087-a961-345e927ea44f phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4a23c2d9-f863-48b7-a3c9-1e3e93f5036b phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:63c4c571-5085-41c0-b744-ec83f675d5fe phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f9c40790-1976-4c29-9b6a-b60d45072d21 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1c76b22f-e52c-4b93-bbc8-1943810c1bd6 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bbfb3d9a-b699-420b-8124-b9035b537be4 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6b520311-158d-4268-ba69-3ede1a100e6e phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:65b470f9-03d8-4388-95e5-9982c951e0b2 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ad79c26e-8898-45e3-8454-ca08dd816716 phenopacket.store:SON.PMID_34521999_39 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3ddf1b2f-6990-4bb1-ae54-193af3c0357d phenopacket.store:SON.PMID_34521999_39 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:7fc0b326-2d24-4345-aba7-45abddfaae6b phenopacket.store:SON.PMID_34521999_39 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:23850dbc-63bb-46f4-bb22-79b131b5270d phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3ab4cc3f-e2da-4611-85b6-b109e26bf3c0 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f8db24a2-afcc-446c-9eb6-83c582ef472e phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2ead4c2c-7fba-4c7f-93c1-3a696c2968b6 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c1f7ed72-e8c9-4b9c-94d7-378e2241d5ca phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9b4ed62d-623a-4648-8437-49f47f0f4859 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5c401d47-4978-4024-98f7-9d6568ce1611 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9e63f4f4-5c34-496a-a58a-ad12a50b5e6f phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a93adb82-2ab7-41f4-930b-24ae352a3dbb phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:822ee7d6-165e-4914-a1da-3a27ffcbc844 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ba3852ad-32d0-44e6-861f-9e6cace58c29 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ffc73b68-897a-4932-847e-25f60a45ab4a phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:aee856c0-7b2a-4b18-b6d4-9ff90156c78d phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:77d304eb-31e1-458b-8892-010f29475b98 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:50012d2c-c96e-4d94-b4fa-ab96c7f34fb6 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:58435cc4-bdf3-4714-a887-4a37646c046f phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:83cb2ee0-eda2-487d-a120-cf81ad3d6713 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c5c68a6f-b65e-454b-b57e-b415a75d5755 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c7791cdf-df13-472f-a722-3a8db768a5e7 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:85337c2c-5762-4ca3-a32b-cb454cf4560b phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:87759bd2-5166-4cc2-a393-dfd89d02696b phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d4d27839-d83a-44dc-8891-2790d7f84811 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:114f097a-acd6-4684-8339-8a4e1d440239 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:83ba0bd1-63c1-4f9e-ba67-bdd91c34d836 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e410620d-8de8-43cb-84d9-71026e2b4263 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b85f9435-9793-48a8-8aa0-4b6682cd0083 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f3248256-d2da-47ba-8a06-aad0dbf6274e phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4d5672ad-6e36-44fc-8485-e4c91aa83bab phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5dcf5566-9f1d-45e7-b63a-51552e4acdd8 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f7590138-069f-4b75-9ba1-ee8941c1961a phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:55e5b193-338a-4a97-8b2e-4d0bf62aa7f9 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f5f3a335-748a-4542-8326-073744a71efb phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cddf1c26-235a-4582-b0fc-2f988a8c6a60 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d33b33f4-d12a-4299-bfe2-8a881cd64c0b phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:eb37c856-bbb8-4f0e-b7cb-da8ab2704d79 phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:25ff207c-dab2-49cd-88a9-d616084df46c phenopacket.store:SON.PMID_34521999_14 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:045e96f1-8a48-48bf-b18f-5f5a36f3b9b5 phenopacket.store:SON.PMID_34521999_14 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:4d41c43d-e516-4313-a48d-9e899499a81e phenopacket.store:SON.PMID_34521999_14 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:31137c78-9f9b-407a-9ee7-d01cf64b79d9 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:80a04f90-f97d-4d2d-98d6-b5ac9b102f61 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:12a0cff6-865a-45ea-aef8-7e1822c66394 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b8fb2a56-f796-4e95-bd81-1746b47dfa33 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d44cecaa-0443-46d0-bced-a2dd15797cb2 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:20ec8c74-9df8-46fb-a430-2b072d17c041 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4ac6575f-9726-493c-9f01-a874f93a179e phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c726a128-2c22-48a9-b665-db0a65bef552 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7266d3ec-6bd4-4003-8ad4-a2e099b8a645 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:91a03ccd-4fe1-4289-85a2-f0414a164e5b phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:374eb3a2-5871-4cd4-890a-6575ee6a4c3e phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3de106ca-479f-403b-8547-bce5948f477b phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3b9ce64b-7148-4f8e-aefc-615164286ba5 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b8e65ac3-9e78-42e5-830a-b24ea094bb30 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:16254569-de7d-4b50-9335-51698719fcd0 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d50b048-8346-4ba4-ba32-8616a49bf8b2 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:538fa001-b6d0-40bd-96cb-8fc0ddfbae57 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cd7cfaba-716e-4a43-ae8a-8bb40a008965 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:aae8f6d2-3618-419e-b2ac-b23b734e7c46 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8563cab4-7502-4515-9b8a-540e31d8d2c5 phenopacket.store:SON.PMID_34521999_11 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5c581a91-df22-44b2-9ead-7979b5b81a1e phenopacket.store:SON.PMID_34521999_11 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:38316327-e3a7-43b2-8963-10dff8f6a6a2 phenopacket.store:SON.PMID_34521999_11 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:879752df-bca0-4b7c-b497-6478c301b101 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d35f9b84-ed67-4239-90b1-a8accd7cc77b phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:16ba58e1-47e2-439c-923b-97f35be1d0d6 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cda1aa51-f43c-4c6d-aa4c-9320945569af phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f0afbbb9-d443-41e6-a1a2-c5b5cee8f1ba phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:edcac6b2-32fe-4eaf-9724-70890b1b941e phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d148d2dc-a863-4126-ba15-022a3dd278be phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8ac35fc1-3844-49b2-96db-be61f1c9fc34 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8f06c582-627d-4327-b260-e27518a8f68d phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:69c0f6d1-5f2d-41e4-b745-636a8eea3893 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:13238b11-fe6e-41d8-bfa9-565be5672f89 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f54142a1-dfdb-4c8d-8d28-7bd97aa1fc89 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fca569d3-fe3d-453a-98a0-82390c8653de phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b04d1dd7-d4f4-4348-a1aa-4b944f196e62 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9ab5ef58-aceb-4c3d-a178-2ce83fa80bdd phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d9a92c98-7073-46d4-a3f9-33a514883db1 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e221f850-5f44-48ec-b008-62bdf6482397 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1baf4cf9-327c-4075-93a3-841c8faa3232 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:13b9ef21-dd6b-405d-b7ac-aea545ec0c67 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:faba1f2c-c58e-4e1f-ade9-d097487daf0e phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:07ab9ceb-ad12-4866-b8cb-914862439084 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:588523a6-36d7-415b-9ec9-52bfec63fbd0 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8023c2a3-a484-433b-91c2-3a63551f4f9c phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e35945c6-ddcb-4e01-b5dc-235ac071e181 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6cd2acfa-7a1c-486c-bad9-1341e4f98e4c phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1fa7317d-a8d5-42f3-865a-4825fdc93e69 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b4d5e770-f329-4130-9ae9-7f5da3561d84 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4498f37e-b5c9-44d8-8034-7db4290a3887 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5020c1bd-3fc0-45c0-b6fb-08bea2aab780 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1e8f8c3f-cfd5-4780-b82f-076fb844c835 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3bc97cd7-cce5-4eb5-8b61-3070dabb325c phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1c49a8ee-ebdc-49ff-b544-9a9d6bb21467 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea8da0f0-40d0-4763-88bb-1d7c594f9f36 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:150d2233-60e0-4bb1-89c4-175d77e9c42a phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9f1a933c-24cb-4490-b7b6-fad4013b47a6 phenopacket.store:SON.PMID_34521999_41 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c7710d53-6117-49f2-9f62-407da07cd03e phenopacket.store:SON.PMID_34521999_41 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:7a3d27a7-869c-441c-9325-c1e93855a919 phenopacket.store:SON.PMID_34521999_41 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:a58fa735-acd8-4716-8aaa-c815db169ef8 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2d7c2e0e-6785-4b47-b35c-094486d8a0bb phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:44ac7d22-b564-4dd1-8eb8-d2781ad67401 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:49cb74ea-426d-4022-b6f1-e0a5c89f3cfe phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:25ed5ccf-8b46-4e2e-8ec4-47edae37a801 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:95a81b80-51ef-485b-93dc-9284183dee77 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:aa1037f1-e3ad-4373-95f3-da42ef68740f phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:af785006-8cc2-4803-8228-8a701e021ff8 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6eea8599-5a97-4039-bc37-4b212717e4f4 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a61039fb-3598-4821-980b-0a02c346db38 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cd9e316d-b605-4fdf-ba30-0263a7076add phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b5cdc79c-457d-4b88-9264-3b265bea2b12 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:157edbd7-86f7-4151-bb11-daab79918980 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bd4edccd-5bcb-43be-9b84-7c37e3df3984 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:18727ebf-b420-42c2-b5b1-35105ab17ba2 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1e539308-a029-4623-b197-2dc64fab1e95 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:22897108-8b6d-433e-bc11-260c8f518b73 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d4e7607f-d62e-4462-a3b3-e7cd06e437f4 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bfea10bb-e202-4bfe-bbf9-d3e1c538dcf1 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:55410156-c6df-4f2b-bace-17e058018f94 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6001b801-844f-41bd-b209-a154d0d73642 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:828fed37-e4c4-4cf2-822c-477f19ab2f31 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e68d3a09-3853-40be-892b-a615caa0fd74 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1a5415a2-8c37-4b92-afc7-ef69aa934521 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:74eaf21d-8fb1-4a41-bdd0-3040efc79ef4 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2840dd5f-22bd-4e81-99ba-5b56c6ca6935 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3a61e434-7333-46ac-a82e-abe64c02afd0 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7d763550-42df-4da7-98d6-ac59706c28f4 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:697c836b-388a-490e-9bc2-e3c01ef5d7c5 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:31b18f05-39e9-4880-b3c7-01418ea33554 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:44e4dde4-09d0-4a72-8647-6d51f3a61ed6 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5460d3cf-9bb0-4430-90e4-b95aed211328 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:27ea1980-17d6-46ec-b4e0-1b589000a92f phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4b49741f-37ca-49e2-b941-0a401e2590b4 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b0a56752-01e1-4026-bbc0-4357b6308b3e phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9385cb3c-f589-4287-b608-b404e65c68bb phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:236b6214-f60b-4bb1-b587-3171d04d8435 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e7b5e0d8-f94c-4b23-a0a7-96f1fe64af61 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cb222210-50cd-45ac-bae2-e16dd44c1764 phenopacket.store:SON.PMID_34521999_17 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:31a52177-937a-4c8f-9a13-117944154477 phenopacket.store:SON.PMID_34521999_17 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:8785f2f6-7e7d-414b-aeaa-1bc2954729f8 phenopacket.store:SON.PMID_34521999_17 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:fe10df96-5d13-4d16-8017-fe8a0f9a925c phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c5ecfed2-22fd-4a81-9365-1d9818403071 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:84cf325b-1716-4e45-bf08-180c39ebaed2 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3b852dfa-f436-406d-af9a-e7a777318f8a phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:13551700-0a69-4420-b831-5b019a398dbe phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5ee8fe1e-ced6-4cad-a5b8-62cbfb03b6af phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:85a1b71a-5f8e-4b52-bc10-2ec5eaf41b6f phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4763665d-90d5-4744-a778-71139ec91a42 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ad8a9167-76b5-4f5f-831c-4366ea764b66 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d05b262a-e756-4d39-9b92-e66934e17ad1 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:827f9f27-91ec-43e8-ad5c-8285e7cb5751 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:24d3e1b4-9e01-4046-8fed-96747ae0f777 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:981c50a2-8e83-4c62-a357-dee4a390b1ad phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c3d11acd-f7a5-46a9-bd9d-e91a747710e7 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:63bdecba-785e-4aaa-80ad-a1b34c1e40c6 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:026d4f39-6fd8-47c1-a0a5-0be050260213 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:137ee6f8-86e3-4a65-aa18-5d2cc5f3970a phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:262c41c7-313f-4df9-a434-040c7a273359 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:52f82993-4f92-4778-9847-5f09a2abcb9b phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:99aa1554-b72c-4f11-996c-262ffdf871ef phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7bf11d81-3cd3-45b3-acc6-65d59f090c48 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9a2c53fc-685a-4d4f-86fd-b7898bfac4ac phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7e3b81a0-218e-4163-903d-798b8ea56e76 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6b5200f2-ff88-4e27-afa0-c0037741dcad phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a5971821-0123-4a7d-b64b-3e15c82761c7 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:540bfcef-159a-4826-bb52-27614ff84d5b phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a75df007-d7f3-411a-91e5-1b68af87761e phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8ba3efe5-ff60-4183-a116-6d076a77a869 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4e57a2f0-12c5-405a-8d05-f985fba712d5 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d38beda9-4f7c-45e4-9e32-f1e9d1881825 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d29e5ed6-c89e-4fd3-a32f-fbad7ad400de phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4434bae3-7d5d-4d78-92a6-de32d161b0fd phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ba595d73-0783-47f8-a6a5-265b912f55e8 phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:974aeacd-08f7-4daf-b576-49fc9fcc20fe phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e568dc35-c0b8-4a6c-9013-bbd27c23ddcf phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:766a6e54-9c65-4078-8db9-319ebbe3fa4b phenopacket.store:SON.PMID_34521999_26 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b685abb1-597b-4c7f-ba57-a9140ad8f932 phenopacket.store:SON.PMID_34521999_26 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:885ac93d-866e-48c6-b7c3-8ed5228c335c phenopacket.store:SON.PMID_34521999_26 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:141a746c-09dc-4399-a469-78c0c14715b4 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9e4a3d3e-eb52-439b-ac37-48e1677d752d phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e4a7bff0-a7cd-4736-9420-538936a8eaff phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:399ceba9-50b6-41bb-98a1-81b1442bd1fd phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:16838a92-1ba7-4954-8b62-36d841327b9e phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6e995f18-aa4b-4a2d-b7cb-0ab5f4fd202b phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d1d9dc09-03b8-4126-8ccd-8f39216326db phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0be9dd38-c362-4880-930a-30af1d0c9737 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:642e8ee1-4615-4c0a-8712-cc55370cd73c phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:70be6703-5486-42db-9e66-416aa7f3c2bf phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6d25c4b2-5d75-43e7-ac5c-09d22adededb phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7b81c644-9c63-4401-a82e-b9550f90cf05 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:14911ea6-68e0-4479-9ced-b5b8df1d1f2e phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bac06c78-1f49-4ddb-a47f-a4e1f3997b55 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9a8ed700-8f0f-44e0-9e54-bd0aa923b4db phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc4fbbaf-2413-48ff-b9e3-3702934a9d47 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:907fe5f1-14c1-4346-bcec-bbce1a3432e3 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:27f841e3-7aff-47bf-b50b-9663765ef1fd phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b06842b8-23ae-4eea-bbdd-ff733c0c4cbe phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:df7dc0bd-1671-452a-b3db-6e0edf63f192 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:158555ca-86d4-4d86-97ad-38e1dfb1e842 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea924cc5-867e-4542-9585-e02f33ac6358 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2e44f6a9-4cc1-4c0a-aff8-fcf991df566f phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e7e41b3a-644b-4087-8ad8-a4bb1bda74a2 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d70895d5-ce3f-45d9-8cbb-6291d47b0eb4 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9e36d9cb-7147-41f4-8b70-31c4ea218953 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:88a584d6-8c66-44fc-b407-093f7aa79222 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:181ce549-fd80-49f5-bb83-2d89c3c32e2d phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8a3a2ca-7d52-4b83-a1b1-d4e84c1b4515 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6126d06a-cab9-4e7d-a9ce-d3c5eb2006d8 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:556441d5-a3ef-43ca-acd6-73f95d1820ae phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b7d17d00-6931-4497-b9e6-7b54b0592836 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d7007627-503d-4bb6-b09a-3ef340791f68 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:286a9a1f-126a-4da3-8867-4417aef585ca phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bc057a36-5e8e-46f6-b714-63a89d909379 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3dd7efab-6be2-45da-bee0-c01941c163d3 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce1eb80a-6ff2-4e9b-a725-4eb110b01a62 phenopacket.store:SON.PMID_34521999_34 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:97a5d0da-d498-4e28-bd83-17b001d3d7fe phenopacket.store:SON.PMID_34521999_34 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:130df053-52ea-4760-a3a8-dd3404b5fa99 phenopacket.store:SON.PMID_34521999_34 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:84703037-4d66-42b0-b7b4-cf0bedf9af63 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:88c9f7c8-2722-4110-84b2-7330cda9afc1 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0098e657-ef14-4542-b0f8-5d16a8516a13 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f8482189-db43-4dd3-b93e-c87dc5e7d725 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8dd18338-56e7-40d0-9af4-6a9689a3cf1f phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ded36dbb-685b-4db3-9afc-cbb483795145 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:853d4f02-449b-4c9d-8f9f-b734705d05f6 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d4977c20-bdff-4112-aa3b-dcf881e22c62 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f1afd320-6406-4308-b907-8d9d784dce87 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f8d915a4-1c14-4192-90b5-1ae105e711d8 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9df3a71d-e521-4864-a872-89541669ee2a phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:db1f74f4-beaa-4efd-90bf-30b5315f5e3a phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7c35a8fd-81c1-4439-9f66-cba171fb7c90 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1d8f08c3-588c-43e0-8656-ca787d3e570f phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:47cbd991-af80-419e-93e3-076cbb0a7666 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ab4c2449-6cb0-4c19-9c4b-881567966292 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28a84e7f-40d7-4779-81f6-ee89de7071aa phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dc83742a-d0ed-4a04-8362-e19f1be901c0 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f4e07c09-6abe-4b54-9df3-1ca958644405 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7cb4fcf2-4b2a-4c64-8775-5a58eff4a6b3 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:62456634-7782-442c-a63c-5da9cb5c1b04 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f897118b-e19c-4b87-99ba-385125badf8c phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:66341b51-fa35-4352-a7ab-fba8a61a5e75 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4e747d2d-e688-4057-b036-8e0164857958 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4e1d69ae-db50-489d-b796-0a488aefcc51 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:72cda1dc-6d72-4760-bfea-8a6a3fbdf982 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d162e0b-3645-45a4-ace7-525592f56420 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b6fda281-b638-458f-8baf-9d85d073c174 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bf9e0f63-b8c2-49c1-b63c-c72131088860 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bebfac4c-0982-4042-a0b1-84f226fae243 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8c89235-1fc8-4915-af85-7a597b775116 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1640d195-3461-4b45-b286-331b5f16e80f phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:58d1956f-8566-404c-8311-ac3e167f2494 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3de4ca28-605f-44e8-a0c7-a7b5fa994b9d phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e229f9a8-55e3-494b-8dfb-2b1333035528 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:18dc11cc-228d-458a-99a0-92df08e28ba5 phenopacket.store:SON.PMID_34521999_35 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a34935f7-25e9-41c1-b9ff-0ded59ab6b16 phenopacket.store:SON.PMID_34521999_35 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b0078002-82ce-46a0-b476-b72d06a20d58 phenopacket.store:SON.PMID_34521999_35 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:ae0d2791-8aef-4e7e-a814-747685608b73 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:877e53e3-dc1e-4a31-9970-12d8a71676bb phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:be97675b-762b-4643-a40e-f5636f4bfd97 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9fb8dbd9-1857-4f8f-85a8-42f488046174 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:46c5e7ad-330f-4ff4-9b89-d22e94c3fd04 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cdf01948-d72a-4509-8c12-2727f0a98d5d phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0bd98564-729e-49a7-8bde-df0282219c87 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:37d0f4b2-7774-4c66-8990-92ca7d41cbd1 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6c238364-9ec7-411f-a43f-c38c0117cf02 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c4b8e69c-54fd-4460-8ab5-6193bda11c30 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:03fd0b9c-b3b3-4f40-938a-2aebcf6a106f phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cb7c00c1-bb75-41d9-987b-70933d53d735 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:896b8a7e-9669-45c5-8cbe-a1c2a4839824 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6247569f-5399-4a08-9495-1eaa92e5db2f phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1940f805-967c-4e36-9d67-ceebb6ced972 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1cdd4916-3716-4c11-a9bb-b41d2c93d72c phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2f488254-777b-40cf-846b-ff0e9d599e68 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1f47a6c5-4599-437b-9d5f-498c0b5a1359 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b5e03b7f-2153-46ce-98a1-afce32291349 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:17360873-af55-4c18-9a06-8f784a0979df phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8dda583-9307-4b71-a826-f9d8b6097053 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a1e653ce-d8d2-42f4-a3d0-23fcc3fa9858 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c0df9e6a-b76c-4046-be26-bde1b2967339 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d6966d7e-bca2-4c57-9daa-919cf70005d3 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:86f54011-b501-4162-b7dd-397aa0244c19 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c90d68d6-3996-48d0-97d1-da7f3aff6d94 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5a6d482a-c8f8-4613-bcf6-bea38d096832 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce77a7c6-cbd4-41ee-9ead-ab9512ea9905 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:85ee388c-7a94-4267-9a7a-52509b6c829d phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f5cd1e3b-dce3-4690-b6ba-39ff46004dbf phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4c017d28-5f16-4314-8fd7-22e1137ca537 phenopacket.store:SON.PMID_34521999_8 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4a97faf7-a00c-4750-9d35-641283ecf594 phenopacket.store:SON.PMID_34521999_8 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:230c1255-4357-4ccd-ab3d-1b282b755064 phenopacket.store:SON.PMID_34521999_8 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:c2a60015-d420-45ba-8b4b-3909abf10859 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:590964b1-a4c0-432d-bcdb-a80bb15e9eae phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ad90934c-6b58-4531-aead-4bca1b4bd823 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3e9aee4f-ad9d-4509-8fdf-904043b50a2f phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0d108e4d-6885-418c-972a-0be589b90c25 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4725b3e5-7466-45f7-bcc3-c23bd4af22e6 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:edbb6d64-37ac-4261-a8a8-6f5872e5e2ee phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3670ab9b-5a47-479b-b694-a9a68831ed4a phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5e04344a-e15a-4288-a625-79448e22d55f phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:06069211-d8eb-4775-9211-2a9a2b5bf749 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fd994a44-c195-4a24-ba9a-deb094f15d54 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:47b90a48-2e10-40f5-b664-1ffc6adf1655 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:879388dd-749d-4aad-af49-5e5602016046 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:913f6c02-d655-4d39-a0a3-4597f17307c9 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f80a3e4a-1e4b-471d-8a50-965cd9726cf3 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7bbfe801-61f8-455e-ab64-159e17a18395 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8f623d81-358d-4793-a40c-0b0a81940f16 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a2f34cb3-ea57-4b1c-8b1e-fd21950182c5 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b087390d-ccde-49a8-9930-ffc6ccceea64 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f3850497-0f3a-42c5-b30b-ab785d806511 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:64f7ff78-d3f1-435d-b5e7-6195fd5b6b1d phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f7f2d407-4f35-42f3-8af5-7cc758309407 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:215ed105-0a84-40cd-ac55-06e480e1161c phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:003cec22-49b9-44ef-a252-0ea89fff0553 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9e61efc5-2bed-4ebd-acef-ad4e49d4025d phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:74b8445e-ceb5-41a8-ab29-68011229204f phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8d2c5c51-8bd8-4a81-8b03-e35fad98bca6 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:74be362a-2cf3-4893-9cdf-797a2ad79ad3 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8f5cf6f8-51a4-40e2-afa6-f52cefacb6f6 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d56ca4f9-5233-4165-b5e0-cd4a6465e853 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:78e5ed1f-7073-4fd4-a5bd-db21e2e97be0 phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:87598209-deb2-4a34-937d-c525d6ae99df phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1f5eae22-21db-4e31-9833-de9736c15dea phenopacket.store:SON.PMID_34521999_24 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2721ebac-0854-4524-9518-e1745b82d2b5 phenopacket.store:SON.PMID_34521999_24 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b11ef74d-6b0a-42a5-819a-00accad580b0 phenopacket.store:SON.PMID_34521999_24 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:cb79d960-29c4-4f0d-9369-9a4882bed36e phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:aeaf5c5f-0a1c-4499-8ff0-8aa7771843da phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0003561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1fdeeaa1-a3e1-439d-804b-33a6e42bb19e phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b23d1c33-f7d6-4112-bdbc-ed61d3ae6312 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:97e38d8d-ba20-4395-af25-aa72a0709b86 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4ca317f4-240b-4ac3-bb85-223185362ca7 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:91933e70-ea56-4dbf-b131-92023bb8413c phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:64d3d562-4636-4e63-a0eb-5ce39ff4f7fb phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:46286c85-ed10-48b6-861c-4aa3a5d9495e phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2ec15e10-18d8-453d-ab63-fa7ee38e333b phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cb715ac7-de55-4eb0-bc74-659d5c05923a phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea25ff97-eeb9-4876-94e2-26231ed3c245 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2166fb0c-82fa-4552-8c3c-ff2a3d77fd77 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d4c5ef64-3c65-4be2-a493-1599b74550d0 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1b802ef6-0934-4387-93a4-995c69ef2d94 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9caaf9a9-c418-42fa-92df-4853fc90738e phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6bd081dc-f102-4ea1-b557-d43b61c87fb9 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f05d4375-8370-48c9-b70b-de5d87399c1e phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:52a12379-a861-4fba-bc43-f551c23905bc phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:75c48493-430d-41a4-bada-5f8380a7771c phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:46bbe7cb-8160-4475-83ca-5558d67eede3 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2509e74f-19ec-4210-81f6-c61c69e41a67 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc184578-eca8-4076-8094-d2c5bf1b8aa1 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d56a80d9-58f2-4cca-8b9e-644ab973e230 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f9e8667f-73ae-4535-a094-5eaae82bce1f phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:967e5da6-1ce4-4af7-82c4-c9332a013709 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:56c2b902-5678-4ae6-825c-9775f3ab4bb4 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:93be0ea7-8b4a-437b-a2ba-a00124b7dc4a phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:44077b79-a072-4ef8-9c96-2cf4f851d0d9 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ba176ebd-ab46-4623-9088-ab9014b42fc8 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:724b9986-c97c-438c-bdcb-da626235b523 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1459b667-3ca2-41b8-9539-a5fa8c9e549e phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0484a324-a39b-4def-8e33-ecce37d02dd6 phenopacket.store:SON.PMID_34521999_3 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:128134dc-79a6-442f-901f-8c4512eb137d phenopacket.store:SON.PMID_34521999_3 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:8a28e5ee-852c-44d7-b107-1b42db7a67ab phenopacket.store:SON.PMID_34521999_3 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:49fde38f-2867-4ffd-a78a-89bab62828e9 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:70ba3da3-02e4-421a-973f-e6f1a6b47690 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:20c7d509-9b7a-4058-8725-96d7170eb943 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3b7cce8e-f78d-406a-878a-e55fc14df3ad phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ededfef1-eaf4-4e23-9682-0f9655b068c4 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fa7692b5-3dcb-490d-a72b-663d3c2296d3 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:90c81e1a-4a07-4a2d-bf37-9576dde0f595 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:125e0436-ec1f-40ac-becd-7280aaa9b3ec phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ecd37865-7115-4628-9e7a-6b1df39a7e29 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f3cd30e2-a22f-484f-8031-1ced675a3540 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a073c54d-48a4-4ccf-864e-a852e4619e9d phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d675653d-4ad9-4c3a-83b8-2c6c1a4f653a phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3d51de8e-3121-41b1-a201-ff2ddeb0e37d phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4276e5c0-cbd1-4698-bbb4-d013b56a356b phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cb7cd5f2-85d4-45cf-a612-585a2671c44d phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ecb15221-402f-4496-afa0-4fe9a772c054 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ed52788d-7b67-444e-81fc-6cbeceb640fe phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1eb9edd3-fd7c-49a1-8d18-08f1c15dc56e phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9b552fd4-6df2-4574-a4d4-626d20d642a7 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3f55f652-65e6-4cc3-a3fd-5b83be3770e7 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0703b879-dd35-401f-8fc2-bd6e73878108 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ddde27d2-0170-43f9-91f0-a02c850aa60b phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:92358c99-963c-4f68-b942-91dd35e919fb phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:060d9329-9fc8-42e1-966a-0363a9051743 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cd9d9965-0263-455b-bb2c-a9bfb64d9c3e phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c01727fd-dd08-4afc-9726-3ef5b408a822 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7a47577c-679c-4bc9-8d06-955880934c1e phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6508f4ec-8a76-40bc-9918-518b8d0e2786 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9bd302af-1856-4fa0-a1d0-76c11a55534c phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cd20dc03-dbcd-46b5-9b57-0e22f2f3c6ff phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f3783f55-7622-4fc7-b6d5-3d9c4e7d9a58 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d0d77403-8ff7-41bc-b7ea-d554c0db488b phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:96b5495f-5f11-4fa6-a7ce-d7fb869ce8ae phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9e480cec-5566-416b-9fc6-21d88fe326e6 phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7bd9ac8f-b888-47cc-82b6-398d68c776bc phenopacket.store:SON.PMID_34521999_29 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e0a3cf55-8fc7-45b1-9b23-0a5b1598bbe2 phenopacket.store:SON.PMID_34521999_29 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:42ed62fa-3716-447c-8dff-a047e2307700 phenopacket.store:SON.PMID_34521999_29 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:f8e54602-41f7-4c12-a877-75886dc3631f phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1b32ba98-2e35-4f5b-b1ea-8588393aa908 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e2af146e-f96d-4564-a0f7-6336defe1cf9 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:45d3dbf8-a616-4e51-ba60-0ad276b63170 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9943e4f7-f3fa-41cb-bf20-8b4581edefdb phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:698a12d4-27cf-4da3-8f41-cc863496dca4 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:301cc471-6de2-4583-b6d7-a4d6f8e0bacd phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c3d2f5e2-a08d-48e6-b9b7-490a97afeeab phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:84ec1f3a-88e4-47cf-913f-8f4b593ea36b phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:710c97e0-3c55-40aa-bb89-edb915a1eef2 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fc03e70f-3fb2-4598-bf03-5ed82c71da4d phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:df718c1a-07d7-4873-9872-48c338829109 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fe5350b0-7a71-4e3c-a0c6-43c7055fab35 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:da66918a-e101-457e-9229-0ba98eeece46 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5b83ca31-0c02-4c79-8cbf-8e10a1b28bb1 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b1c6ffad-f051-46ad-b4c8-b5653c923340 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c4c2e60e-1823-4df7-b026-df3c1adb5dd7 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1825e4ef-9372-4daf-a5e4-29b7295c8622 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7b56ef55-46ca-44e0-aa83-0d140dabdf01 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b8a15ff8-4275-4d2d-9a18-61503e255083 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a52b7f17-e6b8-41fd-a7b9-277da615bd52 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a76d2845-5c8a-4759-8072-356b15f90300 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8386e16-d8e4-45da-925f-e2ba4e6fb73a phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5c44ea8e-c72f-4fc7-93fe-1e815181acbd phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:30cbcd45-58b3-4bf2-92a3-25b20931305d phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dfa10145-5784-484b-9672-283f9853ab89 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:81ea4916-c31d-49dd-87d9-f065fb31158e phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:67bdc3fd-0856-43c3-85e3-684e9611a8f8 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:60bf8f23-e531-4220-ab32-97317e250539 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:70fb5fa8-809a-4d40-955d-1a03238ed0c0 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f7d1279e-e7f0-44e3-a5ca-0d9107ab0cdb phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9f49c172-438c-4a91-97d2-25005200c124 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:36ce7502-2f2b-4378-81d1-4af7c95e4653 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea3eedbc-712b-495c-9296-f39761123ca1 phenopacket.store:SON.PMID_34521999_40 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:549ca3da-03e6-4fe1-a5a6-f670e4a7dab1 phenopacket.store:SON.PMID_34521999_40 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:f458b114-8c71-4a48-a2ce-f21d75770dad phenopacket.store:SON.PMID_34521999_40 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:afb9a32e-fcd3-4474-96b0-135c5a28a4eb phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c6634fc2-8a53-402f-9111-e8d409268fe2 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:749c08f8-cc3c-4fb1-9ea7-6a75b47509b9 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4c0e03d6-e705-47b5-9adf-543b1a9bf47b phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d48a9c73-b4b1-402e-b680-346e2139f1f2 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:95d806d6-2157-4008-9703-a326e058ce68 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3bab6676-b16b-4013-a4a3-600d6f532549 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:66648c2f-36ba-412f-b7d6-7ad7022d34fd phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ce4a99a8-295d-45b5-a09f-ddd6109c879e phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ca53a02b-32f0-4a8b-bda0-1c0119be7b50 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:97253216-679b-413a-9212-96ffc2f5420e phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0776ff40-4404-4764-a61f-6bd85ce5be00 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:95fe7f8a-a4fe-4116-9869-1aa07f3b53f7 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4931e27c-ef6d-4b7d-a20d-6b7822ac3fb6 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7da0b616-4572-4e45-b7bb-0c0214732906 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e74d69a8-99c4-4cd6-86c7-1fbdd6a7d4f1 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d871fdf1-a246-4c58-9a62-b552ec7057f8 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9b3902d1-95d9-489c-9819-70af0c980881 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1300ef5e-8e75-495f-be44-09b5b275ac1d phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6718fa44-8f79-4797-ba65-5a4b064a0369 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cffb183a-4645-44eb-a6e5-e6b283590a22 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:27a771ff-6ba0-454b-ae76-b24e64cc8933 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8ee4d600-7853-4963-a2f9-a566aa70497d phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:91e9c65d-5644-4e71-86f4-323dda8b5f8d phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:174a56f6-9fd5-4ac8-89c6-190cfb3b33ad phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:17af8706-641d-4c53-b0c4-896ed453bcd3 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fb5c87e0-8cb4-4412-9946-28da80facd0c phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0964d918-9af1-4262-aea1-da85d4e05640 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5dbca860-7fe1-40ad-a869-eb7c2a5ec9c4 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:703cb36e-0d2f-418d-ab23-92aabc804c22 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc16cf03-8b14-46ed-90b1-ec41e1a6af4e phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:817df355-1bc7-4fea-9c44-9a556ef3c240 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2f2b10d1-e833-484e-abd2-e2c82a8cf6aa phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a36d1ba1-fdf8-4244-beda-0260f8104d4d phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6be6da29-ce0f-4ac2-a28c-f108e212730c phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1df390b7-fbf2-4188-a612-0c90877ee587 phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4691b99f-c958-493a-b43a-ccb1bdcfa7db phenopacket.store:SON.PMID_34521999_19 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e9dd54dd-110a-466b-add0-ac0ac0fea6b6 phenopacket.store:SON.PMID_34521999_19 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:fd119ee3-7cfa-4c7a-9903-4ecc2b05783d phenopacket.store:SON.PMID_34521999_19 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:e103ff94-2ed8-4bdc-b72e-f6c43f5ae281 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f0fb9c74-6879-4007-b338-592fcf16e259 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9a027736-2f75-4860-b60a-0d8e511618fe phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:787c78fd-8f81-4aa9-b6cb-94ce5c8a9816 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c2301f28-fee9-49ba-b342-e14fe26b2d68 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4f9f3267-fa27-4660-8d80-49b96e733475 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:348b0ff2-c45a-4a12-a9d8-75648dfc0910 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:38fee19a-eb61-4601-ad9b-8f5324201703 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:391c68ec-496f-412e-805b-87fa82ef596b phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cfdc27a4-c519-4614-b292-8310b434f8ad phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a14616e7-8c82-468b-b57e-d9bd651d9985 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:dd2b4fba-ac60-4e62-8a39-7869a4cc79d0 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7c8e2600-438f-4950-9cf5-367ae01de1c0 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:643c1e9d-9212-4032-9ef1-47c0d92633ab phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3e9f1966-21f1-4cdd-ad21-e74d9ae35add phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dd89f377-ddd5-45d7-83d3-46da063e37b1 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d8456422-f753-4b9b-8100-34090a7706a9 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dc04d625-7310-4bff-bca9-e067e93f2b39 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fd7e5912-a350-4480-9c93-039414af8eeb phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bc510cb0-b58b-4a43-a6d8-048d382ba88e phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:63ae07f8-e997-4587-931b-aab1428038f9 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3206d0c0-8b57-4530-b424-3740dedb46b7 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:97e3c3b4-9d19-41d4-ba95-8b596328f4e2 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4f7915ef-de74-4325-982e-4667c317c503 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce4ff49e-c7fc-456c-8484-f8c8900573ab phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:aa447cab-58da-49ed-9c35-8308e92e8696 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:35887e95-09b7-4af5-a921-ed3838d27bee phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:50e63911-0f0e-4817-bef2-ec9c35cd6695 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d9d762f0-0407-4c0d-8369-2b4fc94eafe5 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bb193315-3895-415c-ac86-a5917339f304 phenopacket.store:SON.PMID_34521999_45 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:198f6b82-3d2d-4182-bf99-b811ae034b48 phenopacket.store:SON.PMID_34521999_45 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:f2a4eb62-5dec-482c-8030-39e3f6834509 phenopacket.store:SON.PMID_34521999_45 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:60cbaaec-c869-42d2-ba2b-bb96540b8216 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:44e13424-434a-459b-a580-611c6f9bbcae phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:326de7df-3373-4a53-a9ea-9ee40d22a47d phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c3f02f91-8b8f-4ecf-b375-288252a829a9 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:905afdf7-bc89-458c-9bcc-9af4707b5668 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:33f5613e-4d18-47ea-b5a7-a0226b64fc14 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5f518631-5793-4e45-b9e7-1c3748e763bb phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:793286a8-ff2e-473d-91fa-b2e6f7ea8103 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2be015a4-2af8-4238-990e-aea1e07eaa6b phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c135405d-2346-4b15-b639-913d361beb8e phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:405eb10f-9a12-4e38-9674-94983630c615 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7d4df083-18cf-49a5-a0f7-9173b4b9b3c0 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4df9fff3-b9ef-4fda-bf4d-5c30c0c962aa phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3f24651f-fc09-4f20-acdd-169a14964aa7 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bad788e7-5ade-475a-8571-b885976230f2 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7e2cdf71-a3cf-4ee3-81f0-b01e4d9a5285 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:43dd3ce5-c0b0-442a-a4c3-09f9ea83ccfe phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c1e545c9-29c1-4798-98c8-a0c10cf44cbe phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:642612bc-d7cf-4c8e-ae23-8f31cc4ff186 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f4b3a867-6be4-4b8b-8967-295134b95dcc phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5c244a2d-044a-44ea-9d5d-c361da6ea55c phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:99f6f6ea-9d2b-4b77-a359-4da11f3ace2d phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d3c03757-4271-455b-99ff-b31abfcffc82 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:468a7e38-008f-4a9b-8c04-2167e51361f7 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f4d16fb3-2528-4a91-8cd0-68ea6454daad phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d89b45c8-06a4-44b2-b5cb-1ede073dc345 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a940f2bc-55b4-4f72-809f-62b4b12d11f0 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8d7b2dfa-cbe1-46bf-a5c7-0366261998d7 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b4fbae40-cf2b-48e6-8b12-0b69c6b5592a phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c4023cd5-74e0-4d80-bdb4-e13a40fb85ef phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:abc9d4f5-33ac-48b0-8624-34844b4e998f phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ab3d5a25-a414-4cf9-8a19-ad9a07e63343 phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cba66e91-26d3-48d2-8161-1efb57e2287f phenopacket.store:SON.PMID_34521999_10 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:23dd15bb-135a-4ad0-b776-6bc574ee2df5 phenopacket.store:SON.PMID_34521999_10 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:064b7225-e37c-41c3-aa80-63b64d481cfc phenopacket.store:SON.PMID_34521999_10 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:e6efbbdc-92e6-4c6c-b49e-54d4406a810c phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a4422141-20ab-490d-8f13-077b0f9b0465 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a6b0c961-342b-40bd-84e9-cf94526d3161 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e9c14455-2d10-4ac9-ae7f-c09f6a8b5520 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d5c0a576-4fb4-4988-bfbc-1546d6a62230 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6c897d5d-3595-417e-b9a6-ec586fc7be8b phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4931bb4a-b23d-4264-b8c3-2f30c46488de phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:22568130-b76c-492a-8c1c-d10fa34e0181 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e5a01f36-71e2-4b85-aec8-6a02b9d0e033 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1bd92eaa-cc03-426f-b893-018f7bf21beb phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:440fd8f0-2080-4412-95e0-02b1bd4290e2 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a2f15e23-cea1-46d5-b22e-b0b7b8dcafd2 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:84332e34-9008-428c-9f31-25adadbf849d phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:afeba4e3-82e1-48b8-ae32-408c21725f76 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c34722f5-ad89-46cd-b7c5-f4c2a5f1c9cc phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d93dd2a1-4eca-4bf1-b33b-76cc6fa534b1 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ae69ef9f-c613-4013-9c00-a234547edaee phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e01ce795-be6d-43d4-a040-4f860b5f6e8d phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:87eb95a0-e07e-4be7-9844-ef1eda3ad67c phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:221cc1f6-1629-4afe-91da-d9e8f205730c phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2df9cc5b-bb6d-459a-beb1-e7e41f7a5f96 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:52c1621c-4807-4e2a-a93d-32349f21f703 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:30a1ad01-a01d-4dba-9347-3b1869b71cf3 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e92bf273-ae07-4524-8cfe-3872d3d6e9a5 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8a97c5cd-75a3-4283-ad29-d95c9f8999a3 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2b3890f1-a8e3-46b9-8098-fad7ca03c431 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3cb76348-7c27-49af-b8f8-92ed340e6519 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:90a5cb9d-7404-4fe3-bcb4-c17fb8c0ba06 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:009156b7-84ab-427f-b53a-f0b4d6d60f9b phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:43027956-5878-4e0a-91a9-ad7f2ba73146 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c4fd4193-3949-4bf0-b083-a9a7d94207da phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3a9e2334-e0b8-48eb-b597-e0bcb4085ba8 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2f1ebee9-fea6-4d6c-9b2d-4feae107e6a1 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d8f94ae8-cf07-4543-b958-0952b8873e86 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:74406f89-ad9e-4fae-b12a-07a3ef04e84a phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cbbbe9f0-a146-4b4c-baab-bb24de672d96 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c0beaa1c-72f1-4c1d-abc9-e73334cb4945 phenopacket.store:SON.PMID_34521999_23 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f3cbe057-09ac-4fce-a339-bab1d1234f7e phenopacket.store:SON.PMID_34521999_23 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:38a11f5c-d0e9-4483-9566-8ade589e3884 phenopacket.store:SON.PMID_34521999_23 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:f5560e45-4610-4968-a5be-b6bca521f744 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:73901ef6-fe9f-440c-9cf9-aa0e44405759 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:94a499b3-602b-498e-944c-846c20bdf2f4 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:71045169-960d-44f3-ab9d-d37a93da9cae phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4bf41520-16f6-4ea4-86a5-f73a1ba51ba8 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e90f978e-fb7c-412c-84e3-989c0b7fbf1c phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e7aa5a9b-8b25-4aca-b421-708584a7df25 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2c7d78fb-6330-47c5-890c-e8436162b124 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:194b8975-1344-49be-be05-30d4bbd7dc8e phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:de6138b5-9394-46ca-a5ca-3ee6bcc6c67b phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:be6a2f42-eaa0-4231-919b-a3abf2f7f210 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0bfc9e55-c770-4cb1-9c9f-8b04d91e79d3 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:83b664cb-c2b0-4a1e-bba8-914172351622 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea0c36c8-cf15-42d8-aea7-db3fb06039b2 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:60d41412-077c-49d0-bd60-1bb95220ade4 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:149d773d-6c90-4402-a9dc-0589ab5534c6 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b6fcb252-7787-4657-87b2-fda934a19000 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d6c618d2-2ca7-4130-860a-5f36d4212b80 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cf67f9dc-3866-4e6e-8bf0-e9f1bd344594 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1432e6bd-b1aa-468c-be7b-af0f99eacbaa phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dbedd669-03cb-4fb7-87a0-f020d6ba485d phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a6cdff6e-24dd-40b1-ac0f-133a77bedba4 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f0a7df38-c06a-4103-8893-f1b6aa0df809 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:06a3d6cf-1430-4a3b-bca9-add314cbae20 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:50891053-036b-47b6-a259-4b8809273b0b phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7a5525b1-b7d4-4fc8-afdd-273453ab71f3 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:83fd1780-1d0c-4463-99f6-4bdf30321c34 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc6e7245-3771-412a-a4f7-6e53a53c2319 phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:09adf8ad-b01e-421d-887e-b034a02efb9d phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c8f545fd-175c-4843-9bb9-1e7d9ae7ff0c phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2a4cc4f9-60b6-4e2a-9b9a-9bebefffe98a phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bb7aed9a-e3b4-428a-8453-57e164095c3c phenopacket.store:SON.PMID_34521999_28 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6df8035e-b730-44ec-8239-6a72ca9d6aee phenopacket.store:SON.PMID_34521999_28 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:233c7791-fd7b-4fb3-a05f-2775c36dee94 phenopacket.store:SON.PMID_34521999_28 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:e69b3088-f2b7-474a-9e82-b24dc29c37d1 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ba9e0abf-0719-4fd4-83f8-697ef1bebaf1 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:da4e5a12-68f6-4f0f-a8ec-972cc28d924f phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6e27bb30-730f-4e24-8ef4-d8a614e14507 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1275b469-1b0f-45ef-85bd-e786f7e2d089 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:16476740-2291-4ebd-9494-c855f343fbc5 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:28a57dae-f222-40be-aebf-ae79600a7c6e phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:32d66341-8249-489b-8e2f-60b5f807a0c3 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8abf54a5-4326-4275-83a3-dc75df305386 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4dbb63ea-3d99-4868-9bcb-b7f3e0b38303 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3b744e3b-ab29-4f9f-9094-82228e40fb5a phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dfb6d14b-d4bd-494c-bb24-96d48e5a77f2 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:be2be116-3c7d-49a9-961e-8cb149f0c1a9 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:99b62b80-e55c-49f0-b8d5-d5ef85a6bc78 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:81266efd-2c19-4baa-bc9b-c2aa5483bf55 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c41f25d3-b6bf-41b7-a23d-36ef9ff2167c phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:016cda88-4104-4e24-85c9-3443a950a267 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dac2b4b3-b6f7-47c2-affc-5b0a9f63981e phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:54c75729-b082-458d-8aea-556d4ae96c89 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c37d8712-4acf-47bb-9c8c-1d9446043686 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8c0fe336-43f4-40ef-9081-1971ba90f01e phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:60e34ec0-5668-43a4-be15-508ac0decba6 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce347434-be60-4c7b-8c59-59d3c45ddcf0 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0e04cb73-fdf7-4082-9228-9c55db49ece1 phenopacket.store:SON.PMID_34521999_38 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dccc7a4b-8e54-4fe7-8d21-16cdcf830c04 phenopacket.store:SON.PMID_34521999_38 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:874c2cd3-30ec-4984-b1bc-783b5493dc24 phenopacket.store:SON.PMID_34521999_38 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:359cd318-7408-4a27-9dc5-8fd9ce2f0b69 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:49cfcd01-aa5b-4025-92c6-c51b5b08d19b phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a9fccce4-5f1d-461e-b18a-ebb672368324 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c30f664d-6288-4131-b933-9a323b18c556 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:342b6c52-4b64-4b94-be57-c9af047d7502 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c936cfa1-7a19-452d-b33d-2cd57c22e9f6 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:972abe18-3bce-4565-909f-8c2c9eb5ee1d phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9fa81bbe-5bb4-47bf-b002-33052fccb8c3 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:79960a82-5cee-48f6-ad6a-69660b707bef phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:af45dc3f-dd14-4808-be3c-5f609078922a phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c8107c73-9428-4e32-96b7-89b6a48fd8ac phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:431a01aa-675a-404d-8080-5e8e30f80ee2 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3de09e4d-fb4f-43be-bbcf-dbaa681e95c7 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5718559c-a9b3-4384-8d2d-faf985f8ce50 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:59c82c1b-f97b-48e6-8604-e8a940333f00 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1ff112e0-b373-4d44-808d-db247d8e16b0 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:13180068-1d00-46df-8ce3-e2263e36ac99 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ee2c8e28-75cd-4ce0-b474-ed6e83e585a4 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dfef3487-b3f3-45ec-ac5d-b76493674f6c phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:758e67f6-d00f-4b65-858c-c1ace2f47aee phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:89de9863-679d-4601-895a-c76c0ea9baac phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e86b6f43-87f9-4643-ac1f-46c3ae103fa9 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a8008edb-c674-482f-8a4c-f66572773d84 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:be69f324-ee68-4c30-bc0a-135cce655cdd phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5dd7e786-2e06-4332-808e-acce4c3ca074 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3805a253-477a-4552-9cb2-34eb482b30f0 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9f8b1ea8-b274-437e-add7-98488b93519b phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f838d012-078c-480f-9a7b-d782a2efaa0e phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:549f3136-2110-453c-ad98-ac06a7fe43d3 phenopacket.store:SON.PMID_34521999_15 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d1fba8e-640b-4513-b0f5-ccdfced2916e phenopacket.store:SON.PMID_34521999_15 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:adfdbdad-760f-42f4-971c-94338d84213e phenopacket.store:SON.PMID_34521999_15 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:a501b9d0-ec2a-4b53-9309-380f9804b84f phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:78353d43-ca88-4ec1-883d-ca188ff7f370 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5b83c70a-24bf-4842-b15b-44ef5704b538 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0dd62cd6-b603-49e4-b7f3-6734ee156155 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:facb333d-0859-49ac-a542-74bab6b97227 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:84246c90-dbc7-422d-b1f9-a18c8ac8a6c0 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1e3add00-514e-4023-9e5f-284c35b3a633 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:433ad915-2a5a-4f78-896c-f8ad424cd6e6 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b4af562e-1f89-470c-9b72-c811fcc15e83 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5dcabed8-3e6d-4f45-85b3-e4f6b30b324d phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d292a22-ba31-478b-9416-2ceba0c88278 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8b3f6e75-2c77-49ab-b385-5a4fe63a0fcb phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:51c6e50b-b372-4c83-ae02-409bad4229b9 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:82c527d2-4321-4516-9749-0698b94f62ac phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:efeeb71d-9ec0-428a-b1ee-c213ca3768e3 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:df75f8aa-19ba-49f3-be6e-b3a5ada70cf5 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:543c4de4-6c1f-428c-b9b4-0cc2ffe595da phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6331257c-70cf-497e-b615-329937524388 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a7c8565e-cd7c-4155-9feb-e6e99c614d07 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:73dbbf91-2bba-4c93-a65d-598fbd537564 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6a19fca8-8d42-4959-b25e-99b96f915e59 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c77795fe-a9b1-45bb-8314-0b5c439fedc7 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d313f6e8-81e6-44b8-9b9e-28a610333bb4 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28761849-f037-48d8-a8e6-7f923ee60c17 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2ac845cf-34b6-400f-b6a1-b4fca5351212 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c867e9d8-2e7b-40d1-854e-623617aca810 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:005e6023-1603-4284-ad3f-8b8ac1c812f0 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9c2c0478-e154-4fc4-8343-2e7ed43de061 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6d568202-9b34-4c9c-8108-e57e5dac3645 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8b7a1412-d9ed-4716-8346-eaf5a94f9165 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea4d45df-bd3f-499d-8656-787bb5643ba4 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4ef2effc-9383-4948-8f2f-f474e96369e6 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5a59ac88-8fd3-4bed-9c87-ffae16d09d2a phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7b6b1ea3-5e42-4a93-a8db-279be9502ab0 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0157dc48-69fb-4daa-9fd2-3e2745ec8f97 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dd856bde-b397-4761-8538-396a96f78364 phenopacket.store:SON.PMID_34521999_48 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f0d93b24-c54b-46a3-9bbf-e022bf8e9e0d phenopacket.store:SON.PMID_34521999_48 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:dc657c91-17d6-4179-b27f-952399d9d2be phenopacket.store:SON.PMID_34521999_48 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:99e7663b-136c-46d7-8048-e722b17be3a6 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:12c6fff8-1031-475f-8c3f-7f1701097a36 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1c6788a9-c720-4cc2-9c32-b8f3a1ecdc33 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0004324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ec5bb377-c362-4e91-a991-5889405f8568 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7df945c8-2e56-4b5e-b429-b3a8fe099bee phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8b3bd7f5-f616-4731-b77d-ba9bf3720862 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c0f80ec4-8f9b-48e3-b754-2cbd5bf2423c phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:754c6321-96f4-4507-b505-c204c34ffe49 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a8f980ec-32fc-4244-82c0-af9abe5bda7e phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ad2592d6-2e8e-4f1e-907e-e31c3b6bc57a phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a122e22e-fa14-4c14-be2f-8a8257f7accb phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c88d265a-51b9-404d-90ae-9b9b7b0c6763 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1e80c65a-6336-4f1e-818b-5809624a4cbf phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:080f0412-cb8e-48ff-b8c4-e78f9a3e00a7 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:00115bb9-c417-407a-9890-e074d6329736 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ce51fc88-8696-4fa1-9c02-783daade8d54 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:56d7938c-7827-45bd-ab9f-ad1037df8fb0 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:35a1e44a-93e8-4dae-880d-a3576b246e33 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bf1ae402-c005-489f-b2f4-f66d1f9fa54f phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bf183ba8-65b6-4f6f-9795-665405049661 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2e258d92-e9a2-453f-96c8-51c859fc404f phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0bcb4b05-bfdf-430a-bbfa-35ca31bfd80a phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e95cbe4e-4126-40a8-90f6-ce950305b278 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:79d10eb5-2a26-4a31-9d86-2b97f0583720 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:67f3327f-ae35-42b7-89ee-7926d5ce861e phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e23a42ee-72fd-43cd-8ed4-60af5be8289a phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:80cbe6d8-61bc-4000-8351-e0d300f7bc50 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b3a9bcb8-a3df-458f-811b-ae4c45c2683d phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1a0e4011-cf13-46e4-95c1-cc93aab5a0b1 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e9d8156b-61f0-432f-aad4-b3bcd66bf585 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b9b2d5ba-3e5f-4d69-ad9b-d73bd357468e phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:07f9a23c-e8af-4f44-a6ec-1366466778af phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b75ca128-78b2-4bf2-a5de-420dcf819c2f phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a226fc71-943e-4644-82c0-69d9b158481b phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0837569e-5fa3-4639-b723-0078ae5a2ddb phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fbe6c8ef-e7b7-4b4a-96a1-82f53df255c3 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a33ced20-fc12-433b-bc43-8246466d64fd phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0c7cab9f-6a9b-4334-8e18-4d3dd47a0638 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ed7c922a-2fdd-444e-924b-3f8affc8e640 phenopacket.store:SON.PMID_34521999_5 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea18e99a-6ba1-4fca-8d11-3cd40f3a4786 phenopacket.store:SON.PMID_34521999_5 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:e07828f5-7ff8-4df5-a1e2-6b551d695aa9 phenopacket.store:SON.PMID_34521999_5 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:19a153e9-ab87-40ac-a7cc-308163170111 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7d47fb9f-be7e-4e22-a112-4266089b46f0 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8042c5b9-1fa2-48a2-910e-7dfed32a1b75 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9a360322-f681-4321-855f-6e2f8b67269e phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f6ec4dfb-3fd0-4fce-bd67-36db882a1500 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8b48c2c9-cc83-4ff4-8127-bbca21f504e1 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1d7deb60-355a-4a54-9956-fe84e1c7e36a phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8c9eac60-fbc2-4260-a473-9c30ff6a9ecc phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d537a1f7-21dd-48eb-80f5-929c28cba949 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5822ae50-c270-4f87-a5dd-30a64308bf04 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a702bd89-5305-412b-97e6-07ba9cdac104 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:15bd5c60-9f7f-4b47-af78-f1c6e3c5a537 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0d388f91-079d-4046-bba9-d3ae7df8f9c3 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5f28fdee-f18b-4ce6-87b0-51a7e5ca9dcb phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:31ff9d41-3657-4ad4-ba65-32bb1aa87505 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a65d2031-2fd3-46b8-997c-2e824a3a247a phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cd72b448-d17b-4068-8c50-9d53b49aec89 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7f73722f-432b-4669-9380-fd25d94a5eed phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:36b74323-135d-4f18-80c9-191f623b5bc7 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e9fe2033-82f9-45e9-b779-911f7c9b7e45 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:05e3672a-d196-406c-9351-5f2a1ef072ed phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:efa72038-b6a5-4a63-a745-263e3f7b1c3e phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:310148b9-f127-4ff2-baae-7c8592ddc307 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:85397070-6151-447e-b40c-eff40847e196 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3c1d7b51-368e-4528-a168-4fd9291bd52d phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5ecd156c-8b86-4df4-8300-2be524562ed5 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:00a36325-619e-4a1b-a763-cc1decbc8988 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:54b17c40-0a09-4cce-b9d3-f15af07b18a2 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a6f24e8b-deda-40cc-bf2f-4135a030f54c phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:60ed805e-013d-4bdc-b518-3e8bcb817589 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e703d9b5-532d-4a9b-8e2c-22bc1ceeb6de phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ee9d51f8-cd2c-4cd3-9fe0-a224f633690f phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:003eab40-c26a-427c-847d-60f6e1b4fc78 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5732fd9b-eed1-410d-ac16-492bd2cf38fd phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b842d87e-9c3d-4e6a-a1fa-15cbb195e8b0 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:414ccd31-6594-462d-8dc3-c04c09b97311 phenopacket.store:SON.PMID_34521999_22 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4091fbea-b0fe-444e-9b4a-c6a80116fe3c phenopacket.store:SON.PMID_34521999_22 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:29baeca0-a7af-45ad-8742-fb1d72f25036 phenopacket.store:SON.PMID_34521999_22 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:36487673-fc9c-43c2-bacb-ba5b7a3b5d00 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:85c6a134-532a-4164-9fe5-115f6f67d30b phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cdca2080-f7d6-4915-b5d0-a3467666539b phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:57843699-830a-41b7-a692-7c21d72352c9 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7017b5cf-67df-454f-85c5-983426d19f81 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:92d369bd-9da6-4b1b-9b5f-feb97df09ef4 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1bfe34e7-8b4c-49a9-88d8-6da03ad9908c phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cfad476b-d224-4c75-baf9-20482adaa28d phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e6e39043-4065-44bf-8ae7-4b2d279b1411 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4a9f36ed-b22a-48fc-b0ed-f1d6f44ce68c phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5fd49b97-5c9d-4d33-9635-6aaef2e6b716 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e40b8b56-b762-4491-8de2-9da738b606fa phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a2e9637f-6d0d-4c30-8c37-4514510626bb phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:46981b41-4990-4c96-bd59-73310acdc181 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:afbc18bb-257c-4768-91f4-dc92500b1541 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:95bb6c2e-622b-478d-9c3a-521532bc214c phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bacd0f5a-b630-492c-a676-9e0911e16086 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dd5d71bc-6203-45f9-8a02-0fe5a74a0b2a phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2a1b0d69-ac5d-41e9-a5c8-511e94250a97 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:54f6a3ef-b9be-4f83-8b09-5bedea6e6b8d phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28372c41-fb33-469d-aec9-32093abb4269 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5fbb3c37-62b9-42b9-9858-707b2028e649 phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:70221989-4c13-4422-851e-80900c0803ed phenopacket.store:SON.PMID_34521999_33 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8e202e11-5621-466e-8033-6a9809256bb1 phenopacket.store:SON.PMID_34521999_33 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:09b7a030-a0a1-4d00-8790-9b35e072410e phenopacket.store:SON.PMID_34521999_33 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:e5ae41e7-a1a8-4aec-957c-5be82357111a phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b4616605-a860-453b-8271-89febf657c66 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b78f36ca-7030-41c0-a7a7-b6b747d154fc phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fe9e09f4-eef5-4fd7-af5d-35b11741e1b6 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:79ff6c76-4c7a-448e-84ee-f1ea70136675 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:97c9b595-a781-4b47-82a9-caea41c9ef5a phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6b39d00b-a518-48d4-8872-b115edfa0d26 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:df798fad-cd66-40b5-8cc0-9deed851786a phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b8023f9b-58b1-4f31-b04e-47bb89db3527 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bd2e68df-21a2-4a98-b0d2-19c2fe45a698 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ada90c75-168b-4cc3-9ccc-351192247fd4 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9d88035c-d6e2-417c-9457-84a218dcf206 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c13aa5d4-a0b9-4863-849e-96d38e2be914 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:86e16689-d08e-4714-8e97-7ca96dd628aa phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e11c112b-e5b0-46d1-9fec-7b5ce6cd471f phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e332b205-73d6-4991-adba-645fd1da74ed phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8f93a464-2a66-43b5-84da-f698c6bb80bb phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8f19bc2e-a1d7-4f92-8cca-c3c0f0b1a9dc phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e15cbb25-329a-4c27-bbbd-f55aa4c55333 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7ee833f7-daa3-4f13-8d5c-701cf8dfd30e phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a2d6f8d8-88d3-49e0-84fc-647d8338ae79 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:768eb0ef-b0ab-457d-8ac2-f4bc4e9a3831 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d5b68798-6c5c-4202-b411-801a8cc41518 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d603f42f-56e0-4455-a656-8fe3d0546f98 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7289e197-17a0-4de7-a715-7f23a79843b5 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e2d82a6d-1cc4-470c-995a-27514f2a809a phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:50c18ea2-2a28-486c-a614-e20dbce99cbf phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0e4adc74-dab8-4fe4-a534-2957371df663 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fdd55801-b1c4-467d-bf0c-5ad3cd6a20ce phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:50fa4a93-6810-48fb-b2bf-0f3379db7f2c phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ead7d904-b042-4a6a-8e3f-aeff8712cba7 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9bc436ce-bc2b-4b55-aac9-1bcff1410dc3 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1800b993-691a-4535-9dd3-e27183837c91 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:63f0555a-3a5b-4771-9307-892424605531 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c40a9176-f200-4fee-9682-ab0bcf5b6291 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8921e666-323b-4ff2-9bda-ac4126a524a6 phenopacket.store:SON.PMID_34521999_46 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:173375ab-807e-407d-811d-55a7a482d65f phenopacket.store:SON.PMID_34521999_46 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:adb4cf19-e51f-445d-9f9e-ccaa533ee921 phenopacket.store:SON.PMID_34521999_46 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:dc4bff5a-5dbf-4cc0-badb-626164592cef phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f9a7396d-d31a-4b31-97c9-350ae40da25b phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:09f90c0b-d14e-4a62-810f-1bf8a7d1aaf3 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:12c132eb-ae72-4489-bd21-4bc9c15809ec phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:42b049b0-6a64-4766-af15-ca6d993aa0c3 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:086d5032-1189-4093-97a4-978d40329a28 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:76b0bd61-e00d-454b-bb7e-76562de9ed60 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:df28db27-30a5-4cb3-adbc-fa42aefa69be phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1f2a1083-b48f-44b8-a635-e55810665bab phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fc6c70af-face-410a-ace7-2403e7fa102a phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:745f80f1-cb3c-4f08-95a6-af1ec87a6593 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3ebe1d57-ee7a-4dc0-8674-88015b760840 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f8bb401e-194d-4d65-96e2-99be33c9c732 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:40240ac6-2e43-452a-a494-1abba195be90 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d260dc99-c5ea-426a-9f58-a8f6668a26e0 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4c2d2fbc-8605-4f71-85e3-73e8a01c4fcc phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:152972d6-3f33-4f50-b3f8-370babf980bd phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:aeb7d5a8-bfec-4719-9cc4-a1722adfeafb phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:67bff38d-30b7-4bc5-abd6-2cd4e55a04b2 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e67076ca-3a18-45b4-b336-f799f0006a65 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bd1096ff-3dc1-42be-ae1c-970c42241f04 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fd5ba177-abc0-45b5-98e4-2ce15cd8a87a phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:07a0db58-d94d-401b-90c4-1478d63ee5e7 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:00928d10-a222-4aa3-bb1b-e2677bb1b36f phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:61664f1f-5b3e-4a30-95ad-9dbcdc4b84e8 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ca6625fb-9cda-4d30-a5ae-1aef648c3caa phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc1f7a81-edaf-4199-8419-a566c1ae763b phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ca4a6cb2-7966-4827-97d1-767834ab50d6 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9b819fa1-31f3-4cbb-a895-4dc2a3143350 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dbee61f2-6aad-4677-92f9-e42936d136a8 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:621389a9-b15c-4d64-acbe-a74636682ae0 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:104f89a4-3c68-4920-a4de-ae54ae7a3763 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6f29b1f4-5f15-4d47-8325-c944eec34cb8 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2d21d176-27e8-4eb3-a3cc-867f64d0bc04 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8e6fa105-da5f-4e99-b615-93acaaf6fb8e phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:add077c6-ae5c-44b3-b723-4c840fc158d0 phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:17a8cae3-f7bf-4b62-9003-bcf004f8b99a phenopacket.store:SON.PMID_34521999_47 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3b2c096d-5bc2-4607-a481-2d81c991f198 phenopacket.store:SON.PMID_34521999_47 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:0815f90d-9531-4c17-ad10-0c34a3559973 phenopacket.store:SON.PMID_34521999_47 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:db933f71-a0b7-4336-a926-1d4c0840c4cc phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:96b4b724-073b-4b32-bfc6-8456ec7cf1c7 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:92313526-960b-452c-b038-369dddc87b6c phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:18a36ff8-92dd-4669-b001-851818d8e6e6 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2f152f61-d69a-4126-a3ee-8b35bc1a19ae phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e1dfa35c-9163-48f6-99e9-72d4fe3fa9c4 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9c684fa8-b89b-4bc0-b78a-6610c10ca5a0 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9f067dbc-ed9e-4b25-967b-1116aa6325e2 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:87f01c85-7c6c-4114-82d5-59c08d0017f6 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bd677616-d7b1-45c7-a228-066a6db3757d phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:696cfd80-910d-471e-9522-08d6f4dc4bde phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ccede8e3-09bb-465a-8f16-c9f79508182d phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:59d0fbba-7abc-4789-b8ce-75dad741b64c phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:43a44609-62b1-4ad2-94c4-12ce3e7fefa2 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6320e525-4e38-4757-a5f6-4aaf559d6145 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:738f918a-6de0-4988-8dcc-4323fa8b375a phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:de7b0580-32bb-44bc-acfc-7d364a96d649 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8c03cdde-1929-40b0-af2f-4766cc8d4a65 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:975a8ee4-0954-4fa2-91c3-35b5f7565112 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c5b72d53-67e0-44e9-aeeb-fbb14d35aa30 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a907d7d5-97fc-4009-bf30-5ebe4123ebe4 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ed7bb806-f8cc-41f6-a5f6-0b414423b2fa phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:39e1b235-6ac6-40f0-8c17-8bc99afe4acc phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:59a578fc-1c2e-41b2-9333-ee292bb9a4bc phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:db578614-5447-456c-ae9f-4202dfef8162 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9e6edf8b-efde-4a72-b0fd-08fd71147785 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a42a15ff-dca0-4b91-8bfd-2575f6825870 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8182eb74-bb60-45c8-a35d-5de8b696be86 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1b9e7467-56c2-4398-b405-87c20a9f1cf1 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5376d77b-6bad-4bd3-9a09-edb1e065561b phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2a985e6d-0151-49f8-8ec5-325f7de28654 phenopacket.store:SON.PMID_34521999_44 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b6d44f0c-cd60-4e63-9dd4-fc0364d922f1 phenopacket.store:SON.PMID_34521999_44 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:f144ed4f-ddec-426c-a1e5-dfade50a188f phenopacket.store:SON.PMID_34521999_44 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:c97c4da7-acfd-4ac5-89d5-6aa6099097d4 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1641fb38-e223-4de6-b58e-b29750be91e6 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7aca4213-38f5-4fa1-96a1-136c7fffd21f phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1964a768-3672-40cd-8d73-ddfd08828280 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:31ea605c-9d18-48c2-93c4-1766d5ae7c15 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fccfd54e-694f-4f4e-bf14-cac888e3e4f1 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:263701f4-a1fa-429f-8fd3-48dfd776f08f phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f70834f7-8d42-4f52-a654-2545be850138 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9ef1141b-2fb6-4c67-87cf-5acd70b252a4 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:15c40c7b-bf2d-4a5b-bf36-9f8832106b8c phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:992e518d-0c97-4586-a305-c548e35a509f phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8aa11281-7885-41a2-b93b-0e570b2d63ca phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0a8e0689-69d9-4e50-808b-60b6570ef338 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:470896a4-dfd5-487d-a1ba-690a57fab72d phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:055b6415-588c-4c2f-84fb-87a3d0ae96da phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7f41b850-76af-440b-80a0-3da4974f0a9c phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3200a17d-9a87-412a-8bb3-09a3afe659d5 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0e51542c-899e-47f3-9e91-e2aba367824e phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6d5a2b09-4a08-4e71-8c37-855792f9d799 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b0c92c59-4d3d-4085-b1e5-da53ae77fbc3 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9b11f512-b668-46ec-9f25-da008f026d6d phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c8a3f6f0-6b4c-46c9-ac7e-5a637a75fc2e phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3414824b-c8ac-4a53-8183-74157d18f66a phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bd8d0999-7eb9-4022-b865-a3aa9c833d5d phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1dd4f77f-1b1c-4a83-a11a-cb1d92870fd1 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0d0dce06-4a31-4575-bbd0-b0f04473f7fd phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dd8675f9-66c9-4918-b62c-c1c14f0388fe phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dd203ffe-3379-412f-a858-aca48732cebe phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea1f9a33-1db4-4867-b12e-8e9c563e3949 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea597f17-d10c-4fdd-b829-f7275ec0dcc0 phenopacket.store:SON.PMID_34521999_12 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:03feb502-8aef-4bdd-b22e-4153983273bf phenopacket.store:SON.PMID_34521999_12 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:bb5e5190-6c4a-44d4-9f02-6777cd191acb phenopacket.store:SON.PMID_34521999_12 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:3f7f85c5-d894-46b4-9a25-225ffad38e30 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f7fc2053-c1fd-4374-b351-f5d9f4432796 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:7cc8723e-1bbb-4f76-b794-8742029b96de phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1a5a52aa-b7b6-46c6-bb27-eb8351b4109c phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d1032d76-9a4f-42f0-844a-3d9eb41f668b phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:11a2e053-9a1b-4c67-b76c-da419d6cafb5 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5892815e-64dc-4738-8383-66c2dbdafe81 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d9f5b35f-be06-43c9-a428-f2d099b2443c phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d5ce1673-64dd-4b23-857b-ff2bcd6f1596 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a8f2430b-5319-4e6e-b91e-f27238062195 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:81dc5cc7-25f9-4832-872d-e187bca7236d phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b7b965bf-a011-48ad-accb-23d25dcd54bb phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9711273c-2264-4f99-8e32-564698874c45 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2c312324-1739-4fb6-a854-7329f3accb09 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:144dee37-9dd1-4840-aa61-4a232839df52 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9b73d752-e182-4c2b-884f-e9cdeea28a14 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2f535202-5779-4f3b-bb97-82d68abfba00 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:457f5504-6cfd-49ca-aee6-ab9e48e07828 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f70fa22d-df60-4520-8399-4940caf196aa phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ce879464-e909-47fe-8fe3-4a81f02b8d46 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e5d2ff4f-492b-47f4-b770-ae0f34ce024f phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:40348214-5e77-4f1a-89aa-9b82a9cf1bb3 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:975bc893-fee6-4a49-8ed9-63fa74e4a9e4 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9897a302-0c0f-4387-8d1e-5d7078b65448 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cb98d051-ba00-4ac9-9eed-049fd4ccb15d phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:142d2cf6-e4b5-4242-a5ed-85785c248f91 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6ee96969-3526-4718-ab06-be201921fb5a phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:60cb6d97-f978-4edc-9290-ec622e99f405 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ac9c5e09-1520-4caf-9e09-8dacc8e4e83f phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9c51a4cd-cd64-47cf-af8b-5fb2b22b787a phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c9ab68a1-0317-4e23-a8cd-d9e1c8fec61d phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cfa726ea-62fe-454d-b6a2-6e07f7d06949 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5d8983bb-9803-411e-abf0-cdc5af97eaa7 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:59d4121d-07e2-41bd-b586-495b54ab58a4 phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ba6fcf25-0f82-43de-83ff-9e9cdf5b41dc phenopacket.store:SON.PMID_34521999_27 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e1459e38-fd2d-45d9-8b63-00cf10c24636 phenopacket.store:SON.PMID_34521999_27 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:ef48008e-3b9d-403c-8c0c-404b36c318c0 phenopacket.store:SON.PMID_34521999_27 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:acf93322-f0d1-4324-ba95-f99e0cfc9383 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5ecea549-d1dc-4178-a1d5-d42f4b0c4781 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bf8142fd-979c-4f69-a49c-74636a2f8573 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0381d9e2-608d-4783-a5c8-68f21bf1422c phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a970f1b3-e0aa-4ca5-acb2-6c385b5251ca phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:23b5a210-c465-4bab-907d-affa4d7633f7 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:80807bd7-3f49-4a8a-a403-3acf6057fa49 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:09a527db-29a3-42bb-b620-21bc6abcf79b phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e8ab7d2c-f070-40c7-831b-aaa029796b8c phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5e35ea70-51fa-46fd-b561-862e8ea0c34c phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:98c99ffe-4e2a-4b57-9492-282daf7329f4 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ac6302ae-79fb-465c-95d1-4f3a8155bdd2 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:785e722a-ec6a-4506-91d4-22393845cb4b phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ba5cbd60-fac4-49d5-867f-af10c080c0fe phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e709e880-f7f3-4fe1-955c-ba64bae820d0 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d0de0e0f-f481-4cb7-885c-c6db689942fb phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:30f171bf-c6c5-45ec-83d9-e333cecf1de8 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f6b50b3c-750f-4fc8-a5ad-fa7977941144 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1462f888-8bab-4efd-ada1-c834fdc074ed phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cd591e2e-37ec-4c87-b8fc-de0cd0d36b46 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:051b570c-b442-4490-99eb-9e692c6b0806 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6b980ec1-68d2-4ab4-b45b-1f0637431983 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:918a1a47-d85c-4923-95ef-cb6e80bdc355 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28db6668-96e5-49e0-82f8-15166bba511d phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:021201e4-e266-4c10-9b67-cb2191ce8d7f phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ca25b8f6-50d1-4a37-8300-324e8fed1283 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3555146e-73bf-45b3-8048-b96c9e276c51 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d1f6cd17-63a3-49f1-8168-cb3af9dc9e8d phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7df89d2f-f84e-4216-aa56-8ab1af8ef206 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b0caa24b-15ad-45ed-8b19-d926b56a788f phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:222c8273-a172-413a-80d9-5070d16d8cdd phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:95b12570-119d-499b-94b9-bef791e2c228 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e7653ed4-6b45-4de3-ba98-25ef7c5b15dd phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c676f9ea-6107-4563-a838-76e4cf5db96c phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4b0b27b7-dbc9-4a9e-b935-0c0b988795d7 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6ce903e7-3bda-4be3-9142-227e4d363769 phenopacket.store:SON.PMID_34521999_16 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a31ebb2f-3dda-4911-8c2f-1164030ef69b phenopacket.store:SON.PMID_34521999_16 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:65e63586-fb25-4ddd-8671-ea7469cd73af phenopacket.store:SON.PMID_34521999_16 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:99b305d1-6b77-4f74-93cf-82d687a5d944 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:58cb1365-51e8-406f-acce-90429cd367c9 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:35780257-3308-45c6-908c-9df5ba8c97af phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ff6147ca-bccb-4356-a402-aa12397b9bec phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:91d7461b-96ef-4ca2-8760-6804e16e127e phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5d531da6-1498-4b26-bf66-1644a338b6cd phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5a2244ee-766d-467e-af9b-8ea4c6f5195e phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:05a1617d-0405-4b2c-891d-c9223a2f730e phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3d9eebd5-e8cb-46e3-8381-ea1364f18de5 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fc635977-ae34-48ae-9e48-44588136fe1c phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:54b431b0-7e5f-4292-b4a3-4f045551817e phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:fa2e3ff8-caaa-400e-905d-8f1e97ac07a8 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:8056914f-2e6f-482f-b47a-ff3020ef5f75 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9b20256c-8977-43cb-9d96-84e79a36cbc0 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:13d7bee4-a4b3-43af-86a0-c84220313e75 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f2f6b689-e668-4e70-9955-b26e083fd6bb phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3a093422-1d90-4c34-a137-bd95c88fafd7 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:11481be5-707f-446c-9a49-84be35598260 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:53aa718e-ff19-438d-a7f7-023391b9b995 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc86e8bd-65af-40ff-8fb8-be770529246d phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:78ecfa9f-2639-487b-a0b2-80ea6bf7dc80 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cfdc00be-5b04-4bb1-955a-d046ec1b9f3a phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d5c9eec1-4004-4f40-8dff-82a66cca329f phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6861e0d8-a803-4a98-8bff-5869d056e4c6 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5d985b93-aa41-49b0-90a7-8482ca8ce862 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:69876f6c-fb9a-4643-a46b-34f84bf0a1f8 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:47a367f0-cd75-4c71-9922-a9200190a096 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dc1b26dd-b4af-448a-9fa1-9f72f57b24b5 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b8482fe1-95cf-4483-8609-05d140382c13 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f4a196ac-3f95-4b3a-b688-27b9c11a33d0 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:95cf5668-a657-4197-8c3f-4c52871b0552 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:33365b05-2c9d-4468-bd33-f4d2a76939d3 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8764eac4-1d8f-4cb3-97ca-7e78ac155b77 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:04dd2940-3261-434f-820e-3dc660aa29ad phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c75646f0-b87c-4811-9bc0-498b9557803f phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b1e79d7b-e085-4aa0-b009-bfa37f6d4491 phenopacket.store:SON.PMID_34521999_52 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:847488ba-7ff0-4582-89cd-66120f653238 phenopacket.store:SON.PMID_34521999_52 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:36125062-c8b8-4d5d-be48-a12ae920c117 phenopacket.store:SON.PMID_34521999_52 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b211d693-8cd8-4ef0-a9e3-ad843828289c phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:aa20be48-d9fd-4f3e-a8fd-6209362e439b phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:510f4be6-3f9a-45c0-8dc6-7c18081ee144 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:be2cdad2-8223-47dd-8740-4be87bbac7f4 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e2f0bab4-74f4-4a31-be6a-febc7e960b43 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:78305b01-362a-4d0c-9fdb-4bca638baf40 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bc3178ab-6493-4c35-8d7c-14202354b36e phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:db922955-b480-4096-aad6-53bda3302465 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:96087444-5113-47b9-9f13-9763d0ef1502 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3fbcab67-04fe-4337-8b0a-cb9694b7ecc4 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:015e71ce-8f75-45c0-af34-f99fe13261ca phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:db3f75c2-1783-4b49-93c5-999d1a554526 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c61f98ce-1835-4186-8c45-36dc5ed58154 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5a4ac109-be1b-450a-a745-56d74cfceb52 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f05f2d64-8050-4f72-b973-aa63d68f63df phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c32fc72b-b62b-4103-b6f0-fa69efa96096 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:37cd3d36-553a-4e6f-bb55-9e82472124b7 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3f4a39b8-7455-4cbf-8940-b441005999a0 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3f28473c-6222-44e3-b591-0542a709f6e0 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0e8d3146-1a8f-4d06-98c6-a159f6fe8f5c phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:06f4ca19-a6d3-40b0-bdf1-e71dea82d940 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f5a4fbf2-089e-4e3e-8762-4fb95eea1dc0 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c02006d6-65a9-4949-95c2-07cc172c5a22 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:db55016a-edfc-4078-9f4c-97d1ee5279b5 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:811113d9-dbac-4765-a894-7a95b3dd9068 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:214ecd58-aaf3-4653-8ecb-699a6bed49b7 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5b73efe6-469e-4886-88bd-e6808c6a98e6 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a4d72e7a-8ee4-42ae-a6a1-63305d13fe89 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5724fde4-2570-4973-9313-180d0ad8940f phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dc34ac6e-ae80-4b4e-81bd-1b4ff0667fe1 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f6cd0c18-2d6d-4eef-8af8-5209110fca28 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bc2e6e98-b0d3-4c1b-801a-2ddf986429d0 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ae862dae-a26d-44ac-92a6-cedfcc3aae74 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:816abc71-2038-45a5-b661-01641c5b932b phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7c0357c0-7c51-4de9-832b-6d2c4d691904 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:898ed30c-438e-4dad-b9e6-8e3a76d80bad phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f8249440-422c-4177-9779-3747d8101b19 phenopacket.store:SON.PMID_34521999_2 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1ca5f938-df59-4ebc-a60a-852f7b9a18e0 phenopacket.store:SON.PMID_34521999_2 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:8d1e49ae-ef88-451b-a6e5-c08377a29d97 phenopacket.store:SON.PMID_34521999_2 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:cd985ff6-9269-450a-bc54-0f9ed2de902f phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:df669196-0e12-46b7-a9a3-92cd86f637c1 phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:678b61ad-e6ef-4d2a-8012-f0bdd32f9853 phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8d1eec59-60a5-4088-a1f0-60ab29be4f5f phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:150afbca-3bf8-4796-b3a6-904a4d862715 phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ab605787-6ef7-4ff2-a170-13c14eaf42b3 phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a201ae1a-7ab0-4665-b457-5554054660c5 phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:57011af5-3b95-4925-b786-88f9eb2776e3 phenopacket.store:SON.PMID_34521999_20 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2f17bfeb-f150-46f5-b222-b6f5a85a9f86 phenopacket.store:SON.PMID_34521999_20 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:2b3d7802-4a9f-49ab-a0c2-657f39db99b7 phenopacket.store:SON.PMID_34521999_20 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:79012aa3-32ac-468d-98cb-900eb82cf944 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b7c42118-0b4c-4738-8cf7-89ce1220617c phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d4c240cc-f922-4324-8c31-0b01ec261035 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d7e23c71-edf0-4275-a13e-4f118c52ebd0 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:869bcbf5-ecf3-4eca-aee6-769bdf607f20 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:96d073ea-5a57-4cfd-87a8-f7b6fb3a17a2 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1e9e19e3-83c1-454c-b9df-c21ba7b02e44 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b3557fcf-c6a9-4844-9221-b6016cf724d0 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4dbfad56-9a63-4353-806c-1770ded09ab5 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a2002370-fe6f-4019-9a1a-d8530e1a6a4e phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:47bb821e-26e6-46e6-a93e-089bba8e919f phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3453b4aa-b4cf-4f91-a391-b385200f73f7 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:da9711a8-e73b-417e-b969-716a848bb17c phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e9522297-1fa8-4fd5-8d7d-c199e1261d7c phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1e32b410-f8a4-4a37-8617-6abdce3fa476 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:becf69af-cd33-4a7f-8c9d-e81c7a0db997 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d0a63da2-5222-47af-8277-d483d76e60bc phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ccabe969-3417-4d56-b51e-6683784c5d1c phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e1ba58a8-f15b-4081-9eb1-7aa4917a86fc phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3ee29676-b850-4188-b3e1-2edef1f54901 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7cefd206-73ab-4035-a177-c76cc056cb5a phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bfa54584-3bd4-40bc-a4cf-f88b7d6d0c15 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1a97a794-502d-44b5-82de-c407ec2a46eb phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d0cd980b-23e3-4f90-8f65-2cc1bc4e6a66 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f7e943b2-89f1-4833-b3c6-2aae7890d8af phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:eeaf2264-d8df-4f10-abe2-975c5a1d20a8 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:52d398d6-679e-4beb-883e-1a61749610ea phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:08c94485-104e-4186-914c-f2ac5d3ad1f4 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bcd9debf-78a7-4102-9a3e-9a926ad306dd phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:fbd6d3c9-9d53-4703-ac8b-8d8d0ac3629b phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d3a0fbf1-e04a-494d-b690-a7111d2f3b9d phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:00ccc544-f87e-437a-871b-4aa8f7f7549c phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:98e68fab-1159-4a30-9e72-6e9c2b767bc2 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dec6415a-362a-4629-a1fa-4b94f095e594 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:765d0aa8-b288-449d-b8cf-5b0a3ef62736 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:832fb692-4ef3-4824-b918-d6409971e9d8 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f4f7cf2b-c59f-4d16-9169-e28554448454 phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:46cba3b1-c9fb-484f-bf06-3c675e61c2db phenopacket.store:SON.PMID_34521999_6 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f89577d6-f6c3-476b-882f-7b74baf4a477 phenopacket.store:SON.PMID_34521999_6 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:16a0204b-cb1f-413e-b29a-4bdb21102bf7 phenopacket.store:SON.PMID_34521999_6 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:31edcfd2-6f73-42a4-a7bd-b9678a775438 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:286c8cf0-bbe2-4da6-a92b-e67c97cbc353 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b602d90e-ae9c-4a5a-929b-0e8229c60e9e phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ca50241a-3e79-4557-a668-b3b1b4e9597a phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ae708178-85af-4746-ab51-d767a92f5f34 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a423273a-3d99-4ec6-bf01-1d72f16a8796 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:293c1fa1-be5e-43b6-86be-f4b8e8c22c2f phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1bb19123-86e8-4905-aaa6-4e111006f2a8 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:aee7b943-f66a-4ea6-8cf9-0f3ca3f87c2c phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:6504ede1-b1dd-48d3-968e-2a7da72c4adf phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:ebc5278f-4941-4681-a7c4-2dca831cb693 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e49f6467-2d7b-4434-a35e-b46d2fb4d600 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5ad2832f-986f-462d-8d22-e9768332fc0f phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e5911efa-dfd4-4589-a5e7-09cf09b65ed5 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f75f22c9-2043-4c04-93bc-3a7fd03d85b0 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a73b1954-9b60-4b5f-a9f4-6d62e9b5fd24 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4e377a6c-05e6-4735-bfac-4e7c1dafbbdf phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d46c29a9-0700-415f-bbfa-9ad6b063038a phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3f4580dc-16e6-4f44-8b21-9d593d5bc130 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:82a8e1b3-81fd-4fe0-afe1-441a86ef151b phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:84b24965-5ed9-49c7-a555-ea55d37cde53 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:110e3a8d-5785-4099-bd34-bc4fd28a2236 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2908c167-beb9-4781-b0a1-63a56e8cc1e8 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a6351f14-9a66-41e6-b67c-ca51ab9518ed phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:847f7dc7-bbe9-446c-9233-99c3c0db6060 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4f8fecda-1390-426e-8d4a-48f55f268c6b phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3ea5e845-1fcf-44ce-b135-fb3606a45935 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:46cf10d5-6d47-4e1c-a6ca-621edebf6755 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:eb7ba7b5-63ec-4069-b30a-9723e720daf5 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8e88007b-a537-4613-aee0-dac05d880fe7 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0ebb5c92-f917-42d9-bf62-e5089cf6a8ea phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:03de09ac-b085-43eb-8f32-6faaa8b6b794 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:78549630-b572-4c7d-92ce-8640a4094fb3 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ea6a1f69-9e24-441b-adf2-f7ffaf9769ba phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4678708a-6a52-4490-b720-1b3066154190 phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0b3857e1-9727-44a6-8048-3c1171e0921a phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1a3b5894-359c-4151-b15f-6cb0be8591af phenopacket.store:SON.PMID_34521999_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:dde83e92-7283-46ec-bf56-5ff19463a34e phenopacket.store:SON.PMID_34521999_1 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:a561b9a1-9cf1-420b-9b8b-20a46fddde93 phenopacket.store:SON.PMID_34521999_1 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:d623529b-b82e-4305-bcb0-f82738a6afb1 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:325dc531-a85d-466b-944d-52a5c77bbc4f phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:518793c3-95f9-4993-819e-75843fcbdb67 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:eefed166-ed7d-4aa7-b6a5-bb5540b60970 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b80a1fb7-8f1f-4aaa-a2de-ef3d4139adc5 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9b68f5e0-c24d-4a79-8770-795c1d7bbacc phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c3ada991-0149-4540-a315-296376eb40f7 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b50683a6-4682-46c6-b262-ee977a27eafd phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:eb3c77f3-7b9c-42a9-8b68-9a7014bde957 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d02e4eb5-5f84-49d1-bc15-28f93a6878dd phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c3bd5f37-fcdc-4bb6-8d1a-c3e07e3b2660 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e255b227-301f-4f2a-920b-721ca45462a3 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5cfd7caf-85a0-48b1-9219-de8d8d0b8af4 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4abc54cd-b0b6-42c2-b054-5adbb12805dc phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9f277447-6dea-4f42-9fa7-827f2c473586 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:386d4aed-7d69-44de-80de-dd330f01bd9e phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d5afc407-7442-4b89-8613-8cca6d558f54 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:59e4a6eb-13d0-4b93-8c18-f817feadb80f phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:03594f8f-1736-47c9-b954-5567c040c29f phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f3d68caf-d5ef-4d55-ac4f-f0fe3dc9a48a phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c0838848-511b-45cb-a6c1-f7f544c7cbd8 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ed7c328f-7674-4a17-aed1-30eb4f63dc42 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:33f552f7-0aca-458d-a0e9-9a7d5e6a2308 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:3d30d9e7-0dc8-4e67-b7db-2db7de52da52 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b02a7602-bcc0-4589-862a-913b71487268 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:146e865c-1025-4dc2-bb40-10b5cd401a01 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:43195e50-6b68-436a-a96f-f464172afca4 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e2b97b63-5026-45de-bf3c-6af970b0baf2 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ccc4b9d7-1cba-4579-9d2e-06ed8acf109a phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6369b8e1-fe56-4e15-be5c-7ff54ee6d3f4 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:1745ed64-6c71-483a-97ca-a1a4a053509d phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:57c50b88-5580-4a35-b1ec-14f0a682c093 phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:b450527a-5339-4f21-bf31-37066db40d9c phenopacket.store:SON.PMID_34521999_36 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7f585bc9-2fa7-4b75-a837-11901eb0e431 phenopacket.store:SON.PMID_34521999_36 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:a539ce1e-812b-4b79-b859-9a02a2680910 phenopacket.store:SON.PMID_34521999_36 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:9b314043-77b0-4a38-bcd8-10d27621ed3a phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:f82605d0-2cd5-480e-9344-bdf51477f1a1 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:42cf432d-d618-4bdc-b4d4-57eae523430f phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:5d52fb56-d1ef-46cc-a232-fc2d8fd2f2b6 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a0a27175-50fc-4e2c-ae4e-78f4289f7c33 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0a8626d2-6168-4983-80a4-a60f3e30af73 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1973d8bc-870f-49b2-807e-f075206bd65c phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0a982540-0b22-42ea-b8f4-66ab459ce446 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d2a9568c-6596-4968-8c77-2c5887d54f13 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:bcbd1acb-73f0-44a5-849e-87100f2e8736 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:b7facfcf-53aa-48e3-8a87-f9b2d46b65b5 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9725855d-1640-48c9-af03-556eb1d78aaa phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:37d67d65-5bcb-497f-b724-2dddb8a11e51 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c2ef9f2a-5e77-4baf-90e2-96f160740a56 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:473d64bc-b9ad-4809-acd5-534630408738 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2d457196-cbe7-424c-b116-12e0851ea287 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:e5029da3-78f7-4d96-99b3-acfece64a8b5 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:805cedc9-7d1b-4f6b-a79b-df18a9c1e042 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:81d11d9a-555a-48cf-b6d4-f9edaf798960 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5e98fe4f-648d-40da-b664-9ff8b0c97b72 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:606fc45f-b075-4620-9ae3-e3d2620e72ef phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ff0fb18d-fe45-475a-9f45-feb8737d1465 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6aba0e5f-8ee2-41dd-80a6-378b26517823 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:96422e58-4457-42c4-b4e9-51b598ed77c8 phenopacket.store:SON.PMID_34521999_42 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:529d9f38-bd22-47f6-9891-5e01c72f38e2 phenopacket.store:SON.PMID_34521999_42 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:01ca746e-74ad-4e92-b976-4089915c906f phenopacket.store:SON.PMID_34521999_42 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:78d6afba-9f25-472e-bc61-eb82fd6c248c phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:9f3e6449-25af-4e7f-a56e-35cfb102293e phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cfc2234c-762d-47b2-9976-ed11588dc6c5 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:66e7da47-7df9-49d2-adbd-c5c9a720f887 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:dc3e3130-bf7d-469b-8136-96179b064f47 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:e31529ee-a27c-43fa-b762-dcb6041d4b6b phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4b2d7930-666c-478e-b88a-32f7e1b73c7f phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:08d9983b-9011-48d6-a4a8-f69f700b1630 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cecaa1b2-a89d-4aa5-b466-740b4a987552 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0d2be8ac-848d-449a-b045-4dac81d821e9 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a5fd391b-18e4-4933-a13e-46c3429ff78c phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:feb34b83-784a-4bb3-9bec-b6d7f858cc68 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:4eb88357-cf28-4873-bb83-ae7150d8cea7 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d0c88aa8-d9b7-4c49-842d-ca9a2e81f3d8 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:c89dde07-31df-4bf0-9121-4c724be12b6c phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:aa429339-3b7e-4248-948d-eab32347a897 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5639834f-26e8-4f96-9a35-55ec6913f175 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:56af7930-5583-4c84-a2f9-acb93b6ee289 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:43066767-5b33-44de-a769-8c77180e9bcb phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8407cc1a-2f00-4f2a-a5e0-9de439712678 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a15620bf-0fe0-44fd-a363-4cd1ea5fcf9e phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4b258c35-97a8-4a96-abfc-0ca2c1adf61c phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:72fd6f63-17c5-4acf-8ed6-ac1e87e2f6d1 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28b039ae-d208-4fd4-8456-a906de6ed274 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:ddc826fb-5bd0-4b81-af6e-443e6dd81ac0 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f089b037-4427-432f-968a-6cb838b5566b phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:6b150fa9-a983-4ec3-bd03-56b0f7bfbeac phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2cbcc4db-c2f0-47be-941c-5e20dc15bdf2 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0a40b868-4fe5-4365-aa8b-93bf17599c91 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:7735c202-5fda-4870-97dc-6347d6813825 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8fd9dd9b-a783-438a-9374-a87bedff1eb2 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:2a1e0fad-5603-4e27-b530-6a25856e494a phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:f7803782-8fb5-428a-96cc-a899282298d7 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c218bcf5-2c25-414f-bdd3-0aa09bed57b2 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:4ae26296-d264-48af-8c62-c1639d41da70 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5e73ee1e-e0a8-45a6-a2c7-f76ccd3497ec phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5614a63d-7b3f-4169-be65-3d4700492f25 phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:18fcd94c-316a-415d-9e61-0e9f01587d3e phenopacket.store:SON.PMID_34521999_7 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:bc9e7fef-e722-42fc-b5a5-37ea5a6aaf02 phenopacket.store:SON.PMID_34521999_7 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:b4cffe91-cda6-4c36-8373-0daa250829fd phenopacket.store:SON.PMID_34521999_7 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:e301d68c-0840-4cc4-acb3-f033e7d5c38f phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d70afc72-3750-4440-a66a-0d8c5b37000f phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:0006f155-82b9-496b-90d2-59d9152eb3c1 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:a8a17a68-0d91-4e12-bb36-e4e2cea8aa53 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:2449f3af-33c4-48a7-b657-139cc47ec89e phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:d43690f9-2d78-4186-b096-fa9fbfb8d408 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:1ab9fd2e-8b56-404f-b0fa-b52c3c278360 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:832e8f6d-0313-4d99-8d02-6aead8ca1c47 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:cf5a706e-98c2-4547-bc0e-8cd886bfa6bc phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:834912c8-d3a1-4276-bb43-c134fb7be912 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:505cab89-e27d-45f1-9135-3ba0beea4395 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:3ee2f765-a202-47fc-95b8-cc549402391e phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:665f6a8e-cdfe-4070-87bd-e8a584a2e27f phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:38ce2e02-2561-44cc-a1b5-b61678d0f820 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:95795937-181d-4b92-92bc-c51d98c8f57c phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:85018191-a45e-4a4c-8d62-8943d92e9607 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34521999 uuid:728b611c-9342-47eb-896e-c84916b5120a phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9cb85f3a-0e1c-4ee2-a7b4-da88cc815f08 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:edd88e57-a5aa-4517-888c-b6ff3db7368a phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:404fb7c7-6f17-419a-90fb-e191a3320119 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002539 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:06e096eb-2819-4597-b37a-2857c4b531d5 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:18fa7d83-154d-4fd5-92d8-5a16f0f48a1c phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:c2f2b099-d01a-4d44-aa28-99f0f737f355 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:345945b8-ef18-436f-b5be-928e3a8b9faf phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d50e3222-f478-4fd5-b17f-0d7291fa94e6 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:52964461-b601-4f0f-84c2-85d194ef5afe phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:9d8ed538-4ab8-4cf8-bb46-1d9613107bd6 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d2ea26dc-b7f6-4210-a633-2ce34317e3a0 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:eecbdb77-941d-432b-8b87-9e7dbe43c1f0 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:28c36dc5-f949-406e-aea9-d0780040b632 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a10a6ffc-df34-46f0-8dd0-f517cb71368d phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:a3346dd5-26f2-4505-835a-4c71917ccc86 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:8af38e4c-46d8-42ff-91f5-7d251d304ab5 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5ffc0d7a-31cf-4cb8-ac65-8c937445db20 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:cc7bb798-46ba-45ac-96db-55ae222c8b88 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:5571d173-9186-422d-9e71-12d4feec017a phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:d29e78d2-5138-46f5-b4c8-2cf68226f7a0 phenopacket.store:SON.PMID_34521999_51 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34521999 uuid:0546dddf-de38-4a44-a368-b56afaaced62 phenopacket.store:SON.PMID_34521999_51 biolink:has_disease OMIM:617140 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:ee0cf46c-ec69-48a9-b2c4-7dca8aa66cf3 phenopacket.store:SON.PMID_34521999_51 biolink:has_gene HGNC:11183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34521999 uuid:732b7d85-67a7-4f9b-8175-c7d55940d3cd phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29382611 uuid:9960f99c-df21-4782-9d91-e13b16f2590e phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:29382611 uuid:d06d468b-19b8-4f96-abc6-362bd2169a56 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0008456 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:9aa3ed1f-592f-43f5-b577-29d2bdafd69f phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0005019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:a0404add-9a7b-4788-854a-ebb82f979828 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0040160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:609c0586-9eb7-4d04-9b11-e70fe44329b7 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0004592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:0c796cfd-dfec-48ee-b419-7ec77b81c1f3 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:378f3505-7b6a-4e65-806c-7c44abbc4a1b phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0045086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:562ca370-96ac-4ca2-8e7b-d2255be15af2 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:6f5a3e52-1acf-4a7d-847b-a508d761a4a5 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:3fca0a70-5ca2-470d-a145-80518e6d725b phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:ac4981e8-ba52-4532-8547-30b96a6496ae phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:b7719bad-6609-4ead-bbba-c50fbbcea9de phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:cd14bb48-cc9a-41c0-a13a-5a1fb61d7e14 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:3bc32624-5226-4a60-a308-d69ddb04933c phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:9194b7cd-a093-4a98-bbd1-fdecc44718c2 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:561bfc94-6cf4-4808-9928-07dc544c1b33 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29382611 uuid:4c57da35-1f22-4b35-b1a8-f52bc83a7d0c phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29382611 uuid:cb15a153-7169-439f-b5ad-c564d9eaff7f phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29382611 uuid:22adfd2a-6089-4768-9e81-87b735a10eec phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_disease OMIM:613849 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:29382611 uuid:aef2b870-2a5e-441f-baeb-e439f31af5b9 phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:has_gene HGNC:17321 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29382611 uuid:5b9f38f4-72f6-4acb-a23f-633e03f2cc5e phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_phenotype HP:0000858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:35285020 uuid:76003b96-3ca3-4ec7-af03-fba75488b352 phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:f526412a-1575-4032-b7a6-fb2e3f3f929a phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:5573b275-d3ad-481a-9fcf-eb38ea12696c phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:b51aafa2-fabc-411b-a074-111d8f43353a phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:149da2d2-7160-400f-9db1-b0bc4f1932a2 phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:d51a91bf-fed6-4219-a02f-3ebb10f9e040 phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_disease OMIM:621002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:299daa1c-b978-400d-aa7e-4b83be1321ae phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:has_gene HGNC:30705 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:b5322f04-ff75-42a0-8036-4630acf0189c phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_phenotype HP:0011961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:f3cfd83d-7458-4634-8e17-06302b8923ae phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_phenotype HP:0031039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:16ce0199-2029-42a9-96e5-9c63e797b9c8 phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:ba876ad9-1abb-49d8-b4ac-054f09202ac5 phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:9994489d-1ed8-4bd5-b670-6e51c82f8da5 phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:6dcd5404-de0a-44e0-95de-b3b8ce92f9e7 phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_phenotype HP:0030338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:e1287fd2-7d6b-42c8-b5f1-769ca2eb8e55 phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_disease OMIM:621001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:41a65126-f0ad-419c-a704-5ebb2c8fd87e phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:has_gene HGNC:30705 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:51451372-1cf3-4737-be32-0fe0fc6b6a0c phenopacket.store:SPATA22.PMID_34392356_nan biolink:has_phenotype HP:0011961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34392356 uuid:6512e5e9-ebb1-41d2-b855-6dfae60800aa phenopacket.store:SPATA22.PMID_34392356_nan biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34392356 uuid:a4746271-0337-4023-9c09-bed6c104fb01 phenopacket.store:SPATA22.PMID_34392356_nan biolink:has_disease OMIM:621001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34392356 uuid:b446c53f-ba44-41a9-9490-59ac2dfaba73 phenopacket.store:SPATA22.PMID_34392356_nan biolink:has_gene HGNC:30705 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34392356 uuid:eb0772b0-2336-4c62-9224-fbb5b3d2e396 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_phenotype HP:0011961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:53e2117d-4e20-40b7-ad86-10755c67ff37 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:3d75ffbb-ab83-45ab-8e42-696adf8902a9 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:81477d85-fe40-4233-a0c8-2a63f67c8dd0 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_phenotype HP:0030087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:8e83d27c-d981-4c71-85f5-eac4e67ab999 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_phenotype HP:0030338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:809e130e-b41c-44b5-8354-d6bb11d15a59 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_disease OMIM:621001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:05fdc6ca-2e70-4af1-8e4d-ff1db75e18e8 phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:has_gene HGNC:30705 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:03b102c1-e4a3-4d5a-af42-9d48e119f97d phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_phenotype HP:0000858 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:35285020 uuid:6c0f4d75-7e3e-410c-a170-346b86ee9d5a phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_phenotype HP:0008209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:bf88dc23-78c7-4d7a-b1c1-64c7ee53bdbe phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:84d6bf7e-a861-4533-bfac-0320ed442898 phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:6301cbbc-33d2-4846-877b-f4b5010b44aa phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35285020 uuid:76eb526a-0d40-441d-8f86-72f66f9503b6 phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35285020 uuid:ed86004f-5dc3-493a-a151-fbdfe6e2a985 phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_disease OMIM:621002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:ab2a56ac-d862-4734-aedf-c3367a096b76 phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:has_gene HGNC:30705 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35285020 uuid:227018cb-4322-46cf-8854-4c3c8e1da8c9 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:17646629 uuid:0ab49f5f-88c6-4a41-91f2-ddeb8bde5a30 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:01ae0910-df89-4db2-9d81-af67ef846a28 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:8cfc6e7d-7f7a-47ad-9976-095e86b607fd phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:436985cd-56d5-4bad-b1c4-19d821bbabe8 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:2bf3ac2d-0550-4a9c-af0a-4b72f66d7e4f phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:89b02357-b14c-41c8-a7c4-ff0c9a898cce phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:1dc0e454-1e28-4620-b9ce-86ab933b5ea7 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:5d4f21ef-0b58-4c26-a942-04f82ee8ee5b phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0033051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:325be016-a507-4f38-af47-41ae5e58b4a7 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:76ab950f-f69a-41c8-8ca5-423dce41bca7 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:4b856d65-fcec-4c07-a228-59d8c250f7e2 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:27729c19-5c3d-48ff-8320-ebb42b30e96d phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:04c3dc01-d73d-4f6c-bfc8-459795c3c275 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:c112d165-f133-47b2-b3c7-687bb73fbc77 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:33ebe5e2-335c-45c1-ac1a-60e11062e85b phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:291cb394-7616-422a-9cbe-3433e3904fed phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_phenotype HP:0007377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:30355201-f840-41e1-bc2d-064b1e185018 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_disease OMIM:607259 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:17646629 uuid:481ebeeb-cabd-470f-80a1-6964b39e30e9 phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:has_gene HGNC:11237 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17646629 uuid:93e6c46e-59c8-4194-8859-98e2cc564744 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:17646629 uuid:aa8ea967-ecdd-44cd-ab6f-611131c376aa phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:e8df0962-7fa0-427e-984a-71267d2657bc phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:6fb39f67-126d-4fdf-9b30-4933a75ea918 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:6b72c3c6-be20-4207-8529-d854749331bd phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:c6fce048-0d9f-4f6d-92cf-67d065c51931 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0033051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:37a8b9cf-d071-4384-9fc5-cb2b8638e1ff phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:072b79cc-e411-49f4-82ef-07a05a93813b phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:d9b5f62c-d725-4300-9dae-75b9c90942fd phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:3cedf815-f27c-48f8-a8fb-e5bc0d9a9159 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:97c4d035-40b8-4627-bced-bfb81a8dbc00 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:730a2802-a599-459c-b14e-2be97f8910fe phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:516099d9-c1f6-4040-a92c-659db63dacd1 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:2c601a8e-be45-4b97-a2cb-3bb242f3dcfb phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:3b444574-02fd-4a38-b6e2-51002fe7ee58 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0007377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:4d983be7-3412-4836-9234-d7fd8ea02120 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:4f663ca5-42f4-4a56-b139-e0d0c4d0a8e0 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:dd2409bd-2267-4317-a392-0452d1a6a404 phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_disease OMIM:607259 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:17646629 uuid:dd310641-4183-4b73-9724-c6049c2058bd phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:has_gene HGNC:11237 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17646629 uuid:ff3b99de-1909-44c7-8091-0f925d705711 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:17646629 uuid:b90a2085-7fc3-4c86-9cfe-1bedd6ea4ad5 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:58b26f7a-27d8-4449-b381-a87361582e27 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:4cf57bb1-1cdf-448d-9d11-2ded04ce5199 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:f1552ed4-79f9-404e-acee-6e155887bfd7 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:11059010-9026-48d6-9c60-8fe70ace41b9 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0000605 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:3d7db97e-7e8f-4526-aaf4-6a7dadc9ee67 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:32cb050b-e230-43ba-9f33-f4f4e4108118 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0033051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:e2dc1b17-b11c-4ba9-ad80-dec881e4794a phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0002354 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:708a72e9-cc1a-45c6-b41a-6eab35542608 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:9b3665c6-f5e1-40e2-839e-c6e9cc7d15b4 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17646629 uuid:784f9634-4d88-41e4-945a-849d4a481f46 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:8e88e754-e9ea-4652-88d7-c5c4b8d7aca4 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:de06a547-39df-40f2-ad47-86f546750885 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0007350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:6a88632c-5131-4519-9763-9005eed2d00e phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:7d945488-24d5-4c4e-bf32-b3473693ebf8 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0007377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:bf99a1b0-cc5e-4225-878a-35d8d73deb8a phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17646629 uuid:189690a3-082a-49cf-8c41-cf4e7a118053 phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_disease OMIM:607259 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:17646629 uuid:676e8f34-1af8-498f-9e94-8f072329a0cd phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:has_gene HGNC:11237 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17646629 uuid:1ecaea8d-26db-493d-839f-71e42a9335d6 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:e6bc32bb-eaab-41ba-80ba-4574074e7109 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:cebe7b88-2c74-4d51-b6cb-efb831345d0e phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0002343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:36927955 uuid:0c580467-efd8-4321-b7ec-f28d271f6f0d phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:a3e4e7b4-8c27-4caf-8a71-1a4e6d7e0607 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:806285a7-67ad-4cd6-9158-03f8a4de770f phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:3d0d7bdc-2335-447a-b054-9898ff472b0c phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:3c106974-691e-4c7e-8d13-65cf8027abab phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:951785ae-f378-4248-a27e-b055c9dfab19 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:9ddce1c0-e80a-4b1e-b601-6dc0e6c8e361 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:1e25b235-82a3-4ba3-843d-86f69fe6b405 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:06f862f2-aca4-4282-906c-9d82d878ed68 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36927955 uuid:7ce0201a-23d7-49ca-b8a5-e855f5a2bd0d phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36927955 uuid:12a24d78-1550-431a-91ca-0baa44316f83 phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_disease OMIM:301114 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36927955 uuid:dda03a70-4c84-44c4-a1a4-7781f35a20ff phenopacket.store:SPIN4.PMID_36927955_proband biolink:has_gene HGNC:27040 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36927955 uuid:df83150e-5a22-4036-b33d-1458c367b14f phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_phenotype HP:0001019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11952552 uuid:0f6038ac-8dd8-4872-8cf5-7d5e7cba2bf8 phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_phenotype HP:0040190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11952552 uuid:f5d6dd35-a680-4422-9444-4371ecd5fcc6 phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_phenotype HP:0003777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11952552 uuid:7263de40-7630-4b71-ac54-44fd13465612 phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_phenotype HP:0025092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11952552 uuid:c5cf1da6-7b2c-432a-b4b0-31a773ae2134 phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11952552 uuid:4f0db8a9-eeaf-49b7-80ae-b70796de3789 phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_phenotype HP:0012472 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11952552 uuid:b59b0635-34d1-4660-9992-22218e4f6b9a phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_disease OMIM:256500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11952552 uuid:5df6acf6-3ed4-4d95-b663-e4a24ed4a345 phenopacket.store:SPINK5.PMID_11952552_patient biolink:has_gene HGNC:15464 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11952552 uuid:c86cc1fe-7ee0-46cc-9294-3c0e270de86b phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0002014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M14D infores:phenopacket-store PMID:29575628 uuid:7b651f2f-78d7-4bbf-8556-6c0897eee5ef phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0001944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M14D infores:phenopacket-store PMID:29575628 uuid:fb284a02-19c3-46f3-aefc-b011cb3151b3 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0002902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29575628 uuid:9396cc3a-0f55-45d7-8d48-dafda542dc8a phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0011106 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29575628 uuid:70f272c2-d181-49bc-997a-8741c4242f95 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29575628 uuid:026c60d9-af9b-4de7-afc2-15286939c053 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575628 uuid:a089dab0-ed64-4346-ae4a-d5e525318d59 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575628 uuid:414aedbd-20fe-4df6-b54a-4b9b5a1ba167 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575628 uuid:047e4649-b6e0-4b94-a7d3-73b42b9c4b07 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575628 uuid:f19536a1-ea02-4c7d-ba50-6e9c63b40858 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29575628 uuid:ae66e08d-dfc1-4682-9272-6161402aa6fd phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29575628 uuid:f44ff1d5-35f6-4cfa-a157-1b59d8e37fca phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29575628 uuid:6f4fc33d-7756-4314-bcdb-ee2be03278f7 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29575628 uuid:cdaf929d-f021-47f9-8c4c-50bec543d42f phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_disease OMIM:270420 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29575628 uuid:17f3c500-077f-44be-a0ba-9a22ce2533b6 phenopacket.store:SPINT2.PMID_29575628_nan biolink:has_gene HGNC:11247 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29575628 uuid:676c946f-5832-4823-8e38-d46fdfe9655b phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_phenotype HP:0007565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28150585 uuid:b4814901-41dd-4da8-83b2-2200ddd4294c phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28150585 uuid:e8a67d5b-d40d-4656-9026-1232aaa494c8 phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28150585 uuid:2f11d89d-54a4-4cc6-9a8a-20a287a6fdb7 phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_phenotype HP:0001012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28150585 uuid:4d0e78f0-957e-43b8-94ca-9747a3325043 phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_phenotype HP:0000997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28150585 uuid:c60e33a8-4b53-4275-bc3e-7fea3ba9af5d phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28150585 uuid:1acdc2e8-b8dc-4c1c-90be-1748ac178f54 phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_disease OMIM:611431 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28150585 uuid:9cdefedf-4a2a-4ebd-9e14-f10171b01abd phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:has_gene HGNC:20249 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28150585 uuid:53e7c6c5-5a32-48b2-b475-f17540872d8f phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0032106 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29484404 uuid:49c7af52-825f-4a18-8c0c-6adbddd2198e phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29484404 uuid:7d5e3b34-af44-4d4e-9a0e-118562128c68 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0001744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29484404 uuid:8c1bf849-2fe7-4b70-a330-54e78e8308b9 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0004445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29484404 uuid:a7c3d03d-0fb2-4826-9050-676cd914faa0 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29484404 uuid:2ebc363d-5184-4c8b-bebb-aabff8b9af1a phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29484404 uuid:4566f337-e1ed-41bf-8fb8-56cd7c3a68a3 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0001923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29484404 uuid:d2dec802-e64f-4f49-90ea-50277e4cc294 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0410177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29484404 uuid:0a4f43f1-16e5-432f-9759-4abca6673846 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0004844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29484404 uuid:b2095008-a601-4765-9e12-666ec466d711 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_phenotype HP:0005560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29484404 uuid:8ca815c8-5ed3-4811-a7bd-bc20d63efa1a phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_disease OMIM:130600 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29484404 uuid:92708347-7e12-4d61-8512-8ef36035d053 phenopacket.store:SPTA1.PMID_29484404_proband biolink:has_gene HGNC:11272 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29484404 uuid:f188476f-a39e-456c-af6e-3c9cbd5b9a91 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:36331550 uuid:1426c6f9-0bcf-457c-adf7-7b5d988e3b93 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:133fe67d-70d7-4fcc-988e-7973c42c79eb phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:5e98f863-8f37-4c99-9f6a-a7af151cd140 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8f372387-32ea-465e-907e-bd86afcd35c4 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:f863e694-bc40-45f8-9bf6-cbbafbec5732 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:faf656fb-c88f-4aa9-b321-da78686ebbc8 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8a6b6f89-0ca5-4860-b12c-0b270760b27c phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:d4e353f5-9911-4c46-865a-644daffdeefe phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7171342e-0b5e-4b01-99ea-958f0708e9cd phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:fcc12783-1a56-4a5f-a591-98ae7be4e44d phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3daa9f2d-e55f-4a6d-966d-46a0c847a48b phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b8aa36e7-c58c-435f-acbe-7af65a17629b phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d1315325-d0cb-4bec-86fc-93c0cb78eba2 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:dba71c50-0d1f-4d9f-a9e0-f2217246d4e3 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:18b00741-cea2-47d3-9722-e74f784bc6c9 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d8b20976-45c9-4892-bd0e-42e59468feed phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:fd0de0a7-a0c9-498b-aded-51e455470bda phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f1f5eb33-7b32-45d7-8033-4409e6d7b202 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:651a54b8-709d-4706-9d53-ea741fb6a3e3 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:193eee69-63ee-476d-8beb-6ed5ff0d5df5 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ba13bdc3-c37d-4a36-893f-64205e444f9d phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ed96effa-c637-462a-b0f4-a3bc39929eea phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36331550 uuid:4ff3ea2b-910b-4a0e-9c31-54e6f11d2ec6 phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:61741c61-3eda-48e1-b1fd-ec111c25dd04 phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:ad32a726-9ac4-4449-a09b-8d6856cfde18 phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:281e7657-646f-4dc0-b686-3e0e28c3db57 phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2fc1f3c5-eefd-4e04-acdf-82942d6891dc phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:66ce9ac2-085e-4cfb-90be-2f56322858ce phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:02cd9647-8505-4e5a-9c1d-6476522462db phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:35068ea3-80fe-4298-a344-3f808a223c96 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:e7ae03a3-8465-4621-be11-a7228a6e25d9 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:997da68f-fcde-49ce-b43f-2a90a5fca359 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b63690d7-8332-4f23-b18b-254da88dbf87 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:354115ec-948d-43fe-8d92-5a75c722a5a4 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f9cdb967-6f84-4f0e-92db-c015ce9dec47 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f11f3e2b-0f6b-43f0-8834-54b86c4249ec phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:0529c88e-df98-4dbc-a53f-dc23a7bac60f phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:41842586-dc11-43c6-b4f5-d6c698902f95 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:4f80c151-7497-449a-b202-80ad26096d3f phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:814a372c-7a87-4698-a412-5bf3b3001b0d phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:4df3e5df-7e40-4c6b-ac5f-ed2214641a28 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:1b6d11fa-c845-48c7-9963-999ad3f02a72 phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c5f3539a-d196-4c42-8196-038a0bd4864f phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29050398 uuid:96ade404-81e3-44bb-a1c9-f0c46d509a2d phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:1799c579-5ded-43ce-bbe5-4778f52c6e54 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:31332438 uuid:3aaec8b4-d9ec-4483-93c2-700529440ad9 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:10383419-8855-4715-952e-9525e7c21993 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:6d1c786d-f9ec-4d2a-98de-9491845f249c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:cd239c40-052a-408e-8f21-70ba53dcce48 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:f7ab130e-1998-4f52-a0ea-fce0e9c38446 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:6fcd71ea-4bbe-4a2e-b47b-35ab35378718 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:9a49556a-1253-4d7a-9da0-161c80b3fe47 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:23676633-48da-43e3-8fe5-da673e6e16cb phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:1ab021f7-2ca1-4969-bfaa-1f921e6514a8 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:454c6d4c-a666-4cb1-870d-c498d7982a0b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fc72c939-4839-4a37-8911-6a9edde51be4 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:86d08ae0-7ccc-4c82-a0f5-f234d82a65a1 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:4130e2d0-edc0-40ac-b5cf-17b974ae1919 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:b033b685-2e40-477c-865d-5e4541c83f09 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:b9fa6c81-0cb4-4292-bd42-92b79578ad91 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:26681981-dd71-4a4a-8599-76b1b4d90b01 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:dfdc76a4-488b-42ce-8fca-d0fd0680f030 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:2b5fcf28-c7c9-4834-98af-74d51e163f53 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:a409a3e7-dd1a-40e5-a1bc-0eba32ea5cda phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:31332438 uuid:77c3b731-12d1-446b-92ce-395c89dcc038 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:5821de0a-30f9-431a-8cc3-123a6d30c342 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:853540e2-f6e1-499e-9e27-7d3e453da6cf phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d398de69-5972-412a-8000-cd622f5b71a5 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:22e9012e-4669-43e4-ac50-a222bcc6d92b phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:47a95dc6-e85a-4a42-8867-c17a6c177531 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9b94c7eb-ecd2-4e01-8b2a-cd42bd86e562 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c99cb2af-0d22-428e-a6d6-e0081bea53b2 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bb9c84a0-2234-4021-a6aa-ad5b144d33b8 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0c2e0f71-ec53-4a35-998c-3b3bf821a196 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8dfbd18b-05f3-4fd5-980e-18d6de3303f1 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0526ae38-1b19-4489-9827-88e140ae8dd1 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:62cbe6d3-1047-4018-a878-3579d6ebadf0 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:48c46075-cd70-4d28-a2f3-e0ab8b9d077d phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c40e71e3-b73f-4894-9218-7dbcfe963939 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f0f3527e-0e51-4d0b-8fe0-ea17d602d39e phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0197c64e-b3f0-435b-a81c-cc6b63facc3b phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9977794a-1079-46af-a964-548be30d6ffb phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f9580177-10c6-4b4e-87e4-6855ef872aee phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2f31cfd9-8ea6-4b54-abb6-7600eb0c1eb5 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:485cea2a-4bc1-4a52-a1c0-04b31b89f69c phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:36331550 uuid:fdf32b03-f133-4f39-96a3-7b7fc621b60d phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:3af9b8b7-eeef-4d90-952e-639c82171d51 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:b2a17853-6181-48f5-8484-eaeaa1f905aa phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:fd319df9-7b5f-476f-b341-a7e211fe16b9 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e3cf792d-6223-4d81-ac5a-af1f07043399 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:53c73283-d984-473e-a6f5-9cdab8894eb9 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5a56605b-ca00-49f0-8c1e-f0db3895f02b phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3b1055c1-4014-4fd0-b525-57a2d2bc025f phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:dec1fead-1105-44e2-bdaa-748369c893ac phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:72f805f0-0ebd-479f-9867-374846902851 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:18f46688-2b20-46e9-8671-a7d4ef981df4 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c8199cba-fde7-4475-b281-5fcc157273fd phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:93314814-93ad-499f-8a29-1b5b25266008 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:380075ad-bd28-4157-a285-748fd365b63b phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35150594 uuid:4a2f00b9-f583-4e44-865b-60a1f79d1709 phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:15bdc434-e9bb-4688-abd4-69058416ba86 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:7d492c01-7979-4c14-b654-c980dc9de73a phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:03840ec5-fdc7-4173-85f3-65dc4c8f57b1 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:0be059e4-2422-417f-8938-c1f71e716398 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9dd56a55-7c49-4263-9038-b247314e6169 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:e0232865-0f3d-4487-9ba5-38098ad8e74e phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:0182b67c-3cdc-48bf-853a-7c1ed2530a8e phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:4981b4e0-2a59-441b-8916-1a4b16c441cc phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:25688121-db96-46c1-958d-ae61248595f9 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:114e43d5-ff12-4888-8784-b4525c70ae54 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6310db3d-414b-4f39-9b7b-b17e315732c8 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:58ead8bf-971b-4030-9a53-15fe386de914 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ad3e2e9f-ff8a-4eb4-b49e-439f3acd6eab phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:35150594 uuid:c7fdc772-bde5-4f59-a4b2-822951af19c0 phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:5d9be73d-71ee-4954-a0a6-e23b9cfa3e05 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:8900e6d9-e7f9-436d-a73c-d2ce4320deca phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:93fb88d6-456c-4856-a84e-e3286136dddf phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:13a89ce3-21ff-4dce-90de-aada29abe76c phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:16ac4700-fd72-44c6-8864-d9eb4c59e772 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:39b19cbd-bb06-4ade-a56f-50cfe9bd2d49 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:7f94af8e-1134-4cde-bfc1-e3fb52762b9e phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:40f84090-667d-4896-8c32-549437c90438 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f9979d2a-333d-4c41-86a5-943953a0ce67 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:49c244c6-ed09-46e5-9577-aa4890a15b28 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b0d2ff7a-763b-45f3-b3b4-2f81c46b7311 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:08fa5399-52de-4f56-85f8-2fb00bbd2aa8 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5816a87f-33e8-4629-a003-cff7207e7edb phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:35150594 uuid:a416c075-1e11-4200-ba62-ea271f92ef77 phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:25e3c8b9-9447-480c-84bd-eb7e6a27a5d9 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:98bf2ab8-0d70-455f-88a1-a282efd00568 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:a0aea59e-fdb5-47e9-9ce9-0bfcf42289ed phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:d67ef867-9bc4-42eb-b15b-53f304d72dc9 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:69c8d429-0443-43df-a858-f75e51a66b44 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:fc99f89a-1c82-4b36-b5c6-6eb82fbfa662 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:78d5165e-ef80-4694-86cc-fc62c6331c8e phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:8703fc9d-17a6-44ac-a943-74720bfb2036 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:e447db58-b06b-4d7e-bf1c-add1ea61dd93 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:70de944d-4caa-4a7c-8d8f-3564fb4e1e5a phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:a5404708-8a11-4d74-9722-1a6a6c39d136 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:29050398 uuid:eb176eba-6e82-4946-8ae8-b4a799005110 phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:075af9ad-9003-4f38-99c1-9bcdd7d213c1 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:15f720ac-8e42-4da9-a936-4007ba5f6a45 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b458e63d-f997-438d-a3dd-2f2de9857a31 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:d66f7fed-4516-455a-a7a1-beb079054e8d phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:e312a46a-599f-4d5e-b011-a5879578fdf0 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:76309035-a0e2-4928-80f2-a30e666f5a1d phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:4fbdc9b0-9159-498b-b18d-b0867e568cd6 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:cb863fb6-cdb2-48e2-84c3-020454cce02f phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f946ece8-2b97-48cb-a828-91b0ae43b6bf phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:379e30c0-47fd-45de-92b6-46ddf5a82ca1 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f13f683b-2f5f-4f66-8386-eedebdd520d0 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c6d7806f-b653-433e-8803-48b8cd2dc2af phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:efee607e-ac09-466c-b99f-2f0fc1060a52 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:4c70aef5-d3ff-4bf9-8113-8d9c7610e3c2 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d219cb1d-8cc5-47a5-ad47-358260e18723 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:cc49eea7-cd0c-4d76-9366-c75e90376737 phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:1eb3709a-7f17-43e3-9b6a-9eee823c9ba6 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:33206935 uuid:d9edb36b-b8ba-4555-9fd5-baad1873262c phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:33206935 uuid:59799f9a-90fb-41d7-896c-2ad141f8fd21 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:33206935 uuid:c20002f6-a37d-4442-8ee9-2b4bd4d87618 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:33206935 uuid:c2debad2-ace6-4fe5-92b8-999b8d674f78 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:33206935 uuid:6986e67e-43a4-4389-b1f6-6ee41a1d142f phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:33206935 uuid:aa77c863-a39f-453b-9c53-8f985d2edc01 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:33206935 uuid:5e595440-ac31-42b8-96bb-6fe5a73ae10f phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:33206935 uuid:18806403-0d14-4cff-8b0d-f74f5e8ed49e phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:33206935 uuid:07f4d55d-2318-471b-b83b-70dce8c52c31 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:33206935 uuid:48f9789f-c009-486d-9400-82b46604349c phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:33206935 uuid:25556a02-c1a7-42fd-b6d9-5aba733c0a8c phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33206935 uuid:ab2c88ef-a054-4888-87a6-4f78a9ba92f0 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33206935 uuid:5daa297d-ecce-49b8-a369-380f91f4a221 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:33206935 uuid:8666e307-024f-4625-ba1e-584216edc386 phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33206935 uuid:b3415bfc-b199-41dc-bb11-3b31d8bfd742 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:37fed500-6efe-493a-8e9f-83a1f6cf11ab phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8974beb5-303a-4513-9675-6a7aab87fec5 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2bd73c32-b18b-45bd-b35e-01c197369555 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:ecf2ddab-6513-412a-b760-7e8e15a85a3c phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:3d68f59d-bcf4-4cd5-b532-9b73a70393cd phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:88d03cf8-8b74-436f-9d73-a2af262d3edf phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5191a753-2277-4fd8-bc29-0b99c69ac099 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3594fe74-72fb-4c1d-9d2c-81e32df7a3f2 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:a772a284-b3d9-4276-bccc-7ee9d63b553d phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8997ebe9-ecc5-4ffd-9ce4-829f17f64ab9 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bc2831d3-e17a-4b85-b1a5-cb921fd70d1c phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:67bd22cd-308c-44c5-883d-4476b3a2906e phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:a6965d82-cf1d-464b-a563-8c345af64d4b phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:c4732368-782b-4def-abea-8265620a24f3 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:75c07310-34c5-48e7-8245-b99eec8e8092 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2a2e8979-64e7-4c28-9481-4d214c46a638 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:f0214e7b-3fcc-47b7-975e-f7f10540632b phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6cedf42b-9ad4-4130-b5a3-00d1fd1a191c phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b00f1f33-d43c-4708-afdd-4db4fd331c84 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bf272161-c8fa-4b8e-a04d-fc12334c39b8 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5819330b-d272-4245-ba97-63d1bdf6bd2e phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2563ac81-d70b-443a-b903-6ad5b08b7bd7 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:10bdcf64-f12d-4037-b03a-19ae6ff36a59 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f7ffa14c-5bbe-4e22-b974-c896aa1a1564 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e7f489a1-099c-4f23-95e3-5d652e0093ce phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:df437bbf-98eb-4012-b4a5-6fe54adeec1b phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8d3fcdfe-c594-44d6-a15e-6776a39777c5 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d13196a5-eefb-4133-84b0-fc4882e49c17 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:dcf3f3e0-abdd-46f1-aead-d6b4e01ea537 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2a603990-a55c-46a5-8aea-401f26f35093 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:1eb31b3a-023a-472f-bece-aa70949cf754 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:56e624b2-19e0-48fb-a509-bb789fa26be5 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:1c256263-3769-47cb-8b03-1cb786f8d9b3 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:34d253a6-b6ec-417c-96b2-8392c9d6a160 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0e162e5f-c321-452d-8426-5818b2634c4c phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7ae4c990-574c-4cc0-894d-de21b846d16e phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4d5d538d-79e0-44cf-9543-5ea336a3ef53 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:63f69f9a-4b61-4371-8e9f-ed5f77affe83 phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:0afaed7d-5169-4166-8144-7b242d4d2f63 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y11M infores:phenopacket-store PMID:20493457 uuid:ff6ef81f-275c-41e8-81fd-573d29497926 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:4ae7ee7c-16a6-4a8a-9b36-732087330c55 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:5270ea97-aad7-476f-84a7-c1c6fc864017 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:f89a9bef-6cf6-4ac4-9ed0-54d0be364c56 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:1a8ea020-30a3-4514-a047-8ac51f7ae36a phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:f7ece467-e12c-412f-92df-5ea12c5097a3 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:611a657d-7f26-48a9-8a54-f46b64b20528 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:eaad9761-c6aa-4ec3-86af-383daac2c547 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:d1a23866-4f80-4ef7-814f-abffad5d7d19 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:53ad9d7e-ed1e-45dc-939d-ca1ce3f51b9e phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:68f403a2-552e-442f-bede-99cce22ecab8 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:15013d9d-460e-40a2-a5f1-d9a5e32e592a phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20493457 uuid:692ab710-1db3-4e1e-8f19-0f77ed9edf1b phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20493457 uuid:4dd25045-1a2c-4351-b380-9ee2940d661d phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20493457 uuid:2127ae2c-9b1d-4857-bf87-42762128b1ba phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:20493457 uuid:ef5fa7fd-f4b5-4009-9b63-5ba70b6adb36 phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20493457 uuid:9a91c9a2-78d0-4ca3-a193-ece87438880d phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:56c7409c-4e84-4bc0-92b7-11bb1da1650a phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:5e0143e3-10d9-4da2-8652-9867da7832e3 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:ef8b04bc-488e-42d0-9477-7d888e93ebfd phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:1e35bf9a-f152-4ead-8772-df8c60cfbe73 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:b4d60fe4-d85e-431e-812d-92be3bc00bb9 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:a2847170-f2ee-467a-b6a9-048737b4ffb9 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:58d6c9de-ff89-417e-bd20-dee73a88e974 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:4a7be20e-d6bd-4295-abdc-34f59ba0a638 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:a68b7af3-7229-4e51-81e8-27bfb78ffed2 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20493457 uuid:4ab5386d-13a2-479b-9189-4b1109ee5f2e phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20493457 uuid:c4494189-c209-46a0-aca6-a0f0dbe2a95f phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20493457 uuid:51a59d8f-4e88-49fc-a21b-fba1386941cf phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20493457 uuid:ce7f13d8-0428-48ad-800e-e342840202fe phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:20493457 uuid:16af543b-a722-4881-9950-89e4287c2b94 phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20493457 uuid:8f0ee3cd-5bab-41e6-b60f-8154bab3fea0 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0002312 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:cd82c2b0-97e1-4949-8375-886abb16f211 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:3320577e-fb71-400a-9919-4712d3152876 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:79313bce-09af-4fa7-8fbe-230bdd48db0a phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:29fdb3eb-d4f9-4e93-b0f5-aa2e63c24626 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:d0f5a45c-61f4-47e1-a368-5638a112bba3 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:11c4a5d6-aefd-4aa8-829c-796ea6816d85 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:944dbd77-19c1-4986-92fc-67bf65684375 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ef5da9f6-a71a-42e8-a735-ad2aad15096a phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:5cfb59ef-4be0-4318-aeed-1af880e7ae27 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8d27669f-1958-4e95-bb6e-8cf8d994d9a5 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:c9433ffb-2aa2-47e5-884a-f33ff689f7f5 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:2151e571-476a-4277-b215-de91e39b41f9 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:c65808ed-a211-4d81-9eb1-6b36cfc4b5ee phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d5799ef5-d8ff-4869-8b9d-c28ae8b28f1b phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:0ca01d5f-2ac1-4217-9821-72954f768bc3 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:477afb74-1255-4a03-ba54-092b8e3c8ae8 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:9c2bd3fb-8265-4130-b612-176a13ec7593 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f2e47462-7816-4722-a522-bce9cb4c46ab phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:7ff31952-2c4b-44ae-87ab-426356945de8 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:10639884-d0b6-48d3-91d2-8b41f53e5e57 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:6b1a7952-7247-4e9e-8caa-9cea0b336473 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:89338661-c51e-4ab0-b8a2-525691b59910 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:36331550 uuid:8d53a9ee-67cc-4bcf-b681-d1d9fca0ce2c phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:1b8d38b8-54ed-43a5-bab3-36fe95aab7a6 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:c829a301-3bb8-4e25-bfb6-bd4598856954 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:be928279-aeef-445a-8efb-730bd1bf0d87 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:80e59a87-b72f-48ce-8135-b470da629f0c phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:122797b9-e664-4a33-a751-cb2c18d2ec11 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7f6afdd4-8e51-42a9-807e-4242c8e91ae6 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36331550 uuid:4bc0f1cc-46fa-44a7-a58a-5b89326e65d6 phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:d30178ba-becd-4011-b781-d74451c3637a phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36331550 uuid:ef90611f-d8be-4ec0-8ac5-093440360230 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:bf165acb-e536-4c2c-a33f-e64f880ca8c3 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:37ca979b-62f0-440c-9a3d-816adab76794 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:98a7114a-5a73-4393-80b5-27f6f092be7f phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:124229aa-36bf-403c-96bb-ede27ed85e01 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:f0294ccb-adef-4cac-a186-8be3f500ac9c phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2a707f1e-5193-4cbb-bff3-d5e325025234 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f425a4b4-f0df-45ae-a974-24bd6e993e0b phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:348902fa-4da9-46a6-97b0-c84d39632414 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:001bb871-7890-46ee-8dfd-7bd44ca75364 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e1557e12-153e-49ac-89c4-f32db14ddb03 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9c3005e9-44ba-4f59-becf-fe88612869f2 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:23ce9519-4133-4177-a345-9a636142b939 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:52f7ab52-dda5-45ab-bac7-8d0df0a84991 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:1f4c1ad2-48d1-45d6-adf1-0db43b9b4589 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:31207eb1-d28c-433c-9091-cef05782c92d phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:78bb5a26-2e2b-42af-b1c8-b131a1ff3178 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3ed7d212-b35d-4b55-ba41-98af6517ceee phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ff2bfeb1-e9f3-4ff2-8471-dc049152d614 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2a8b9678-9aa2-4445-a81a-47e13598fd1b phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6a865af5-dd76-45b7-9d35-9c81d16e5cb0 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:df9995c2-5e7d-4e98-8c38-c5b7a52ce9cf phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2b40dfd8-612d-4cb5-8da1-1090d49dafca phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f9b0a70a-d864-49cc-a941-a1f5a1a30eea phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36331550 uuid:80e3085c-2cf8-4fee-b2e0-7bbf1c84a8d4 phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:8a9453e8-d75f-45eb-8051-fa86f0da9988 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8b842c77-59e3-4924-bb36-c4d7cbfe9eb5 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:1d8b9c03-244e-4114-bdad-23083f2627f7 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d611972d-c847-4eeb-b3a0-4809e5d7f25d phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:aee5b7c7-fac1-4fab-8ccf-bddfeb8fc9be phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:22e069aa-bd8f-47f1-8348-71ed228bffa3 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:34d4e272-2d56-4ceb-bc6a-5045aee63e4f phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:76c7cff2-987e-42be-aa4c-36213c1527f2 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2efee59b-c46d-467c-bc03-1d6fcc31a37f phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5605a794-21da-4d00-9902-0c08fff2cd6a phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3016def8-fcb2-458a-9d14-bb29adb29acb phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:1d8fba6b-820e-4464-a184-3b28112ca66e phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:910a81c1-2f57-479a-82a1-a8883775bdc3 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:54fb290f-bf61-4815-91c8-3cd8944e4bdf phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:944c6ae4-e812-458a-a280-4f7a81691e7b phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5044680e-51c9-47f9-a91d-32431e7e1289 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:20ae9c85-c62f-4568-a9b5-221c185bdece phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8a8cfa96-77ad-4f34-ba65-4ea1c84d9763 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7a0025b6-31f5-4960-af30-b783fb17f400 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:062e1785-63a9-43d3-8f52-b9a91e473b87 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:217d4cb0-4752-42de-bdd5-93f118700980 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4757c359-8f60-4e27-aad6-b078f50687bb phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36331550 uuid:0e484b78-0d6f-452a-a4a7-fab431d20c19 phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:005b21f4-f643-4370-b1ce-8e136c5ce9e1 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:31332438 uuid:642ef506-19f7-4c70-ac20-f98e4bcfde4b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:b49e4145-0aa0-42bc-bae3-940e6a17be47 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:28333ff4-e9c5-4a84-8222-aa990b4866d7 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:0b13a840-2bd9-49a7-a695-b6fa03839b3e phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:e70c088d-793a-472a-b114-f87a5acba21c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:96e9d860-70c9-4c62-b3ab-27e34b89a7b4 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:39924d56-1500-46c5-8d35-e9654b068cb9 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:bf9abbaa-48d1-4a1d-8bb0-cb407a8565a2 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:0fe91046-c9ce-41dc-bd9e-358dff25dcd5 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:e5339040-28fb-45d6-bc8e-136c2174a13b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:6e73ffc4-c03d-4333-9e06-8d12a195d22f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:bf340e49-4713-4f06-a1fd-cf2d9cf86040 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:0044ac1f-94dd-4158-8c6c-c3af9462cb1b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fbefffa0-33cd-48dc-a859-54a7aa8c5336 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d0573ad6-089f-424f-b9bb-7746a52c92d8 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ef751a2f-87c9-4f86-979a-364bbfda02a7 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:6d664231-5cf3-4110-aba6-d8a9a7e2ca04 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:31332438 uuid:a85becc7-c11e-4e94-a5be-cac8214a206f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:259e3b96-a291-43d8-b331-5f4d01c6ab88 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:cf1cc724-11d5-411a-a3be-7c0b41db3019 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:dd2c7fc8-db6e-4e94-8b36-b4d9dc314f58 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:2cf6515c-96b0-4473-be1b-61a4b4b13f16 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:2a3ca59b-78f6-4b0d-9c5a-6b15a8cb5196 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:15ddd4d9-60e9-4dcb-8e4b-77f6dc686211 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:b48fea27-dbdc-4001-b7fa-b9318b1df4d9 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:6da0fc42-e839-4886-a2c8-46bea69ab779 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:62e75fcd-c1de-4dfa-acc2-51027ee47d8b phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:f876ff17-058f-468a-8d78-40587e56491e phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:decf131e-c3dc-489c-8449-e192e0d92a93 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:29050398 uuid:5c3f1714-b7bb-4093-b0ee-912ee0b44629 phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:f62b6a21-421d-4e7e-9bbc-4461fffb1dc1 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6a4ffe55-5e68-4918-903c-292ea80c42f2 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8aefb4ac-8dcf-461e-8d75-0694f452747a phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:01bf925f-0310-4ef7-9032-3d8b88692853 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ca6d1f75-5094-4b57-af2a-fb2485c41af2 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5e4b14cd-4da4-48af-bdbf-07ae3dbb7ab3 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4c7be7d6-5ae3-4702-9bb4-93cc3636bdc5 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ee733cec-24c8-4e7c-a483-273d3993f629 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:35dbba0d-ab67-455f-8ba5-faa6125f507c phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:842b9203-647f-4648-9eb2-08ea69aa9cb1 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ad8f2476-c7ee-423b-bfca-7ceb0799f07f phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:118baf9e-d6c8-4765-a951-f98efdd0e776 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f479ddb1-7f70-49b2-93dc-ef58c7a90945 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7e42a34b-7657-4500-a336-38ea67c6fc5e phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d94eda87-a9bf-4223-bb2d-f365ca2ad2c0 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4281b66b-83b1-418c-9b0a-aede84308d50 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:707d7564-2d73-4aec-a244-f23483cb03b3 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d51dd040-5c20-40d5-bb31-bb78b313de91 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:a68ae48c-cad1-4de7-ae8e-55b0f07a7842 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c13f76ea-b90d-4c54-a475-56e929094401 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:416c6774-d2ae-491e-977e-c8e9a8b9a0f2 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:482bbd67-2826-4e43-97f7-ec3f06159404 phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:de4c129b-c52a-43f8-a1ad-7517cc25f8cc phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y2M infores:phenopacket-store PMID:29050398 uuid:66baf3f8-2ef4-4525-bc9c-2cd9cdcdc433 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y2M infores:phenopacket-store PMID:29050398 uuid:265e5e5d-7970-43f1-bb6a-bfa346ac8b4d phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:20d9cb01-0824-4a23-af90-a9e1759eab41 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:d47d97ed-f9b8-4416-8194-9c9d2f890a13 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:9c416a97-e022-428d-8622-11bc5a624e50 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:ceb9080d-bd04-496a-8b40-63969eb0a0ed phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:41495c75-83ce-4bc5-92ae-b583d06b2f8a phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:27ea3c45-e7ea-4645-b742-11321bceb1d5 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:8139abb3-b7f9-4998-93cb-5526b6144c1c phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:0c842b17-34e0-41fe-93bd-bc3502b4ef68 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:37c6dc34-563e-4375-971c-00d9ddb03c43 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c0e79613-e5e8-4c85-a066-b1f208509550 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:a2fa3182-6f05-4027-9b34-dd41714dec0c phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:b87f17a7-c1c4-4dba-a149-dbaa4d3f78a3 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:f2826f67-b849-4bee-84ac-15657aa1dabb phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:4a78600e-7919-428b-8d95-e6de40e7be38 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:5d9eaf2a-a432-429c-adb4-5d926b0efd09 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:7f1b67a9-25c5-40f5-bd81-f99480a1d648 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:46f12cbf-4c5c-440e-b328-9324c8551872 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:2f2c82d0-baa5-4563-9565-aabab8837477 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y2M infores:phenopacket-store PMID:29050398 uuid:358048f4-42af-4efe-9c11-f6133f3a2f45 phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:66fc660b-8c21-4d47-a07d-e9ad65612893 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:7af3b922-fbe5-464c-b420-12ff370c7256 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:5cd7548c-0a8b-442b-a1db-d1595964cf34 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:d2977db1-7ef4-438a-9492-cce1bfb2ccfa phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fede7895-3016-4a3c-ab21-ddd5e71bf947 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:98712247-b038-4d9f-855f-63518893eecf phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:d827a950-d2d2-41e4-a1a2-c2e67e5258bd phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:20ad487e-bf57-41c5-a21d-911f59ccb119 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0627364f-d71e-4acf-af8d-b6091ea57e1e phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3e294439-f977-4e36-a13c-1779f92dd069 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:42905503-9323-4bc0-a8f5-6f0a42c34da9 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:89e6c2b9-6d6a-4a1c-afca-3ab9719abf40 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f258c6b2-d89e-49d2-9864-cdfb00c72b38 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:d4bf85db-a1db-4a3c-a724-2afcd9a35843 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:453ba99c-1c5e-4599-8ad7-70a3c24cce05 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:dbd9d3c5-98f4-4dff-af21-9182bedc017c phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:5f6aee20-1865-4800-ac63-44f2d28c0274 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b8a7ab06-7f87-4c9f-8c88-81853caffefe phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b5f85a96-73a4-4dc4-86e0-95aa6add5df7 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ed94f6a5-adac-4f79-b73b-3ccbc898dbf2 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:92c83060-a46a-418e-8e83-4c90b01f12a7 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:eec269cd-6aaf-4c28-a0e5-8af72f08b428 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7cdeb54f-fb5e-4e2b-98aa-19b2711ffcaa phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f0f5ddff-d743-4035-a24b-04d5c6271264 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e2788a02-318a-403b-a33d-47862d02e6c7 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b0f55af0-55f0-41a3-bd4a-728498f026e0 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ea41739d-40d7-462e-8d8b-7fb9e742313a phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8809e07c-419b-46b9-bf93-8a1a5affa4ec phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5801ab58-e2a9-4ac7-bb76-13dc037f02b8 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:a544ff49-d9c0-428e-b543-542fceb93ae9 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6a40e752-c559-42cd-8d67-b92fd5184dc4 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:999eea02-d2e7-4365-86d3-5000a48aafb0 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:248514f7-c1a5-4221-90fa-9cd867650441 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:02793fbe-479c-491f-8da4-4a70468c0291 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f17fd5db-d452-4b49-b4ba-5f0bb60deb0a phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36331550 uuid:64c51de5-3f0b-4ae8-a162-f46b9eca040d phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:b0de3362-cf37-4dcc-ba0f-3d7a0bb84c21 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29050398 uuid:577f2dac-8aa6-40dd-9d7f-f2ae33dca746 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9f44cad9-6f7f-4d77-8ac9-ac495ec09626 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:c420293e-7740-448d-a055-8849793bf622 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:5967afa0-cd61-4b8c-8638-4bac305bca2f phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:af167c72-39fa-424c-ab61-4c3cda7dbedd phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:7a7d17b2-bf84-444f-b8b7-9aed4cfb50de phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9afa2d1c-33a2-43aa-a576-92aa2ca82064 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:bcd67ab0-6827-4841-ac73-05f738d31de9 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:513312a0-88d2-4304-b2ca-63057e70a532 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3ffcbd64-b492-4d40-bb05-be24c82d3ab5 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f375e986-af7f-4964-958b-46545d69e60e phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:0c836c7c-c44e-45d2-aad7-d0459d5b1bb0 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:cddc7aef-01a7-47b7-84e7-6a8de4a6b147 phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:7dd00967-a015-48dd-a3e8-6dc3cd6e5aca phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29050398 uuid:19c49d68-f5a2-499b-9826-25c84f9e15bc phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:2a738833-a630-4552-8a2d-30d2ba8077e2 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:36331550 uuid:c3378fbc-7940-43fa-9243-13251777f759 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:a4b38a5c-92fd-431b-a0fa-0cc914625417 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:a628f7aa-72a0-482e-8693-5ea7daa5ba92 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:9b81f27a-3eb6-4244-856b-0c60d5826396 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:f0d545cf-d861-4bf0-95d5-d514ea35b3ad phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fb071f42-a479-4cd0-9fe6-58c6bde2e849 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2cbaf224-25ef-4632-bcc8-c2d811a30607 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:86b6f8ac-85c6-4b59-86ed-3b2ecfdcf1ca phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6f808432-5f1c-4f5c-a53a-0f2fd7323d00 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:b95e4b9c-ec48-4f85-9988-8f11fe0f9b86 phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:1ae6af6c-9151-4185-aa66-ccddf61f9ea3 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36331550 uuid:d3e7797e-1dff-4577-8d35-c07dc310e820 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:36331550 uuid:bf03c232-06e0-4185-b7fd-8d5b1c2760b3 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:9074efb4-0ba0-401e-b8f9-d3bec1b99ddf phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:10a77157-16f5-4fb2-8b6f-33ff9336baec phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:23474dc3-d814-4ab0-9562-26aeb1fa989f phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:01053874-0b4e-4cc2-9a9b-ac68d19267c0 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ac51fd1f-5740-4f18-9404-f39a458af27f phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:28f4b761-c370-4980-9ad9-9cd0132daab7 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7a483c55-e74a-4dcd-b11a-c488a95549bf phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5f4da955-f006-482a-8419-66ef6b517dc9 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:fdacc4f4-1d7c-40d0-85e9-e5b0aa93e12a phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:68d52e1a-8c43-44d0-aa0f-0a94983defcc phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0b0e3dd6-53a4-4c57-a2ca-44d3df4de6f5 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:86969688-640c-4440-aa32-6e039702194a phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4ea17957-7fec-458e-a0b3-eb836d289616 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:23e9e2aa-a5f2-4916-acf6-ebc5dc62cece phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4d84218b-c20a-480b-ae4a-64e5a56d11e6 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5652761e-b681-4cf7-a35f-18ea1cfccdc3 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:a008551e-8bb7-4d9f-bc50-76f48e319679 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8c01d549-6caa-488b-9a56-d2d1fe0d3d9e phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:252d8bdb-31d5-47e4-aec6-e0dc071a1de7 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36331550 uuid:7d3277eb-dfce-429b-8e89-6b6c1a32f7c7 phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:17fb4e61-3c3e-42c5-a4b0-63866b72cb5d phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:81048187-f0a1-4c71-9753-5bb37c5d7de1 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:ed6880a9-2e44-4cb9-9123-ca08f5078a74 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:fe133664-cb35-49c3-ad20-a8b9405ee928 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:38241795-45ec-4d62-9677-d060d1d3d8e6 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:b33c26ca-f733-4930-9aea-1b09a4abc045 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3b60a8a1-f624-4785-ae59-78cecae84455 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:02e14c27-d9cf-49d2-8c7b-65130a0be99d phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c0de98b5-4066-430f-9a68-c469a9413785 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:db891a87-4ab5-4aef-a93a-614e6d93716d phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f186f7a5-c245-4e34-a56f-7f2e4b5f9265 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:bd4b282f-88cb-46e6-95ff-91e7b81fe02c phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:2b9a0a3e-3983-47f1-b37b-b44e726f8c35 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:347d00dc-64bd-4979-b96a-7da9db6d53f1 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3ad999fa-2300-4782-bd42-e375b66abb23 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:35150594 uuid:b0e084e0-4ed0-4147-a4cf-ddc50d5840e2 phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:514444b7-598a-43c0-9746-0b148b9e6622 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29050398 uuid:930bfb59-7b6a-4822-9a7b-5b1f1fbd056f phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:fcab3fe6-7d22-46ee-a260-b2385f7643ec phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:0b7b0f16-1a25-4043-83df-a5447a3a9d72 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3edc9fed-1012-4559-b454-c68145790fb7 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:24e5428e-6e65-4d91-8322-21c870b69652 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:a30a6b17-d376-4d56-9e73-f548bd68bc1b phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:23c42c73-7621-4eb0-ad94-777d9881893e phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:32f7aee5-b3c1-4d66-ba0b-4b9546572fd0 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:4db20ba5-a726-49de-919e-83e8b719b678 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:45400a2c-85ca-44a1-9f31-19367a161b2c phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:9504ee8a-6719-42c7-bdcb-743b5f97298d phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c32ab6e4-0392-47e8-8ca3-2de0dd20ea34 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:868f3327-9df2-4321-890a-3a9523b831be phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:53301311-7c65-4082-99f1-1fa7a137e9d5 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:b83d3274-b3ae-4eed-b212-2f3b901b4817 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:ba73b1c8-6705-4055-892a-1d71fbe3c8b4 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:67dc6e5e-54f8-4685-9e80-c99f04c5b3a0 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:11fbd4c1-0ec7-4581-b17d-5d8dc0556ee1 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:866b24f9-d30e-4093-bab0-34a5414be7f3 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c0fa3164-b5c9-40d3-a8fa-6956fd591270 phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:29050398 uuid:79854ec3-84b7-4d65-987d-28c3a052b2ed phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:3b329a17-b247-4db5-8fb0-f71dd09f2de2 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9b7d9e3b-d0d8-475b-b70d-ff2821f49fa2 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9a014961-000c-4652-9dae-5e04003ba19f phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e4f070ec-ad44-486c-b37c-d0a8f559887d phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:de9baefa-c3b1-4f3f-a674-fb4b60c05db6 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c94d5299-99ff-4855-9af2-9aaa33501a67 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:455227ec-713c-46bb-b16b-5561f45ad8c8 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:cb13c4c1-efc7-419b-8016-afaf34b76e0d phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:deb00301-cf0e-49f6-8bb6-70dd963d8e7f phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:848cc139-b1b3-415f-ab0b-d1d54fd519d7 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:86968f20-6a0f-4eaf-92aa-24d2d8471244 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5fc17eef-b8be-4405-93e6-a0056cf51f15 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:309e5548-d94e-4ca5-ae1c-6d73dfe2fc56 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35150594 uuid:0baa05a4-68e8-4394-a743-a9f516868fa8 phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:6f7bdcf2-2ce1-4c09-ae48-c9494eb09044 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:f4718746-6f3f-456a-93f6-07e2c3581a06 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9d147acf-0e45-421a-8ce2-9855a81f62e9 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:443997bc-ebef-409c-898a-497418535504 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:a61ca74d-9500-4563-a7c3-da83df0fd029 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f65eca5b-569d-41e5-9ffc-f631b5a163d0 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c15ea81a-365d-481f-9054-5817c8b53493 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:43aa0ec7-b6be-4f50-b5d6-0226944d97a4 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c31dfc19-3ff7-4368-b37d-98037f6a818d phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6002dac5-6cdc-4038-af8d-696c044bd2f5 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:8bdb691e-5d05-4c13-943b-204fe3a07803 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b068f41c-10ad-4722-9d93-0c1767d6e26b phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:8f830d04-c2f6-493a-9ea5-68bbdbab0656 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35150594 uuid:e43ccc44-3eaa-4be8-9a9d-fd445626b534 phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:924f91b0-1a64-4ec0-9253-86d22539e361 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:31332438 uuid:5bc11876-89d4-42c7-95ad-64c29d322dc1 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:3442dbf7-38a0-4a4c-8b37-f510daaa8dee phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:256b6653-12c1-4e48-a4d5-30d15de69782 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:7bb78bd8-2245-475c-a684-30e6a5df0ffb phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:0ba0fea3-849e-4f71-b84c-fe50dace2e6e phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:c68a639b-67ee-4edd-b3ed-f82021b70367 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:0c86b6d2-c3af-4124-8ba4-2fbe3c7d3247 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:dd8f27a5-17d2-4d9e-9e1c-46cc518704fe phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:4c1a6002-b056-46f8-8ceb-ed225cb94269 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:5c16c096-7d83-4173-ba17-d5f666bed205 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d1cfbd76-0094-4c83-a716-7475c8ebf2fd phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:1bb4489b-9dc2-40c0-8fed-841c18245cae phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:7c580332-30db-4d02-b15d-9392d565e282 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:13cfc39c-dc69-4dee-bd70-16754981d643 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:2e87db7f-dfdd-4135-9ce2-27bf392ff5ee phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:65068373-8cb7-4651-83b8-d1875d14e110 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ee6095be-9fcb-488a-a458-267a21933b89 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f3657f49-9551-4dd4-a085-1b59144efac9 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:9782de58-4e9b-41dc-8c3c-fb93be198d4a phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:31332438 uuid:1e42f06a-9cf2-4ff3-a827-1d82f81010b7 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:4f92d90b-b7e3-45c2-bd98-3bbc96c511bc phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:4d3b5e28-9d59-4a47-8958-6aa7f5034cfb phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:af020a9d-d328-41ce-a3d0-4800e2e4e75b phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8fdba7bd-03be-4ffd-bd4c-961dd88ba77a phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:aa3c8b1b-77df-46d4-aeff-80b52e7c74eb phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:ff9cc256-277c-4201-b8c2-596eb6d393d4 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:c3d628c3-aa1f-4910-a1b3-b2f036f13cac phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fdae819c-e7b5-4a6d-8691-c5cd50ee4ca4 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:86204141-249d-4a08-bc80-c3e50ba41a9e phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:eb85a874-e930-47e2-b9ff-13efc084d3ef phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:58056685-3699-4aaa-80b9-dec554863b51 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e1f46735-98d3-4202-b7a0-3bbca5d2d42f phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f2ba84b6-85a2-4ac7-a3ea-29aa54cd6feb phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2de025e8-a73f-4973-b76a-b424c0f68801 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:1d2ffe23-c1cc-4cf2-9d17-3cfc69f0b8fa phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2492bd5b-ac67-46cf-b4bc-98c271dc9aa2 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0f5e183a-f5af-431d-bf17-133f70577f1a phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:062cbfe9-8626-4686-9c9f-3b1dd89dac41 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:30a082d5-8b20-4356-b141-2f5827783ecf phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:dd7c4a75-1c89-45d2-a7a9-4ab99dc64f61 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5357ed59-f9c0-4959-b2e3-d7b555449469 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36331550 uuid:e3e3b92c-4ac3-450f-ad92-b8f2991cf40a phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:f67c4ea0-b263-4690-8e55-7fecd6c4e8d5 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:55915059-c254-4947-8c6c-0ab43b8dffee phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:aaf48941-27a6-4cc7-b60c-8d5d934fdde3 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:1fd8103c-7afc-4a7e-9c6d-de5b494efedc phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d5d836ea-bf47-4caf-bcd8-33854a82b3c8 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:a0d2262d-a087-4fa0-a1d0-095897122065 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:1c579da9-54c4-406c-8ea3-43dc893a465b phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c6af2f14-deb9-495b-b60d-8019b45180d3 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ad441a44-93cd-483f-b04e-53a15175158a phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:0a558a1d-f132-4681-a636-aae64e27aaa5 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:055d8633-6e2c-466e-9bd3-83d7bfade860 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:795f7524-bfb5-4031-995a-b78393b4da18 phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:0f41fc7a-c5b0-45c4-ad3d-b7c6b577618d phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:35150594 uuid:e15fef49-3697-4e82-9cac-83d27c37a47e phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:997e14a4-591a-4acf-a3ec-0ae3f63da01d phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:10c653a7-fa55-4348-ad53-4de21e4e3633 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:ca1cb3b7-42f6-49bc-8ea9-80e4eb72137f phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:1e25fefd-a880-4d4b-87a7-2aeeaa9bb2d2 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:93a1b811-32e2-4852-97c3-d89e3d03ecdb phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:1a8461c9-b8e2-4193-8cc3-ef9c4c314fa3 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e325897c-7c80-4e18-836d-09ed69a758c9 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:774f1990-b2e5-4514-b439-54fdc1b4262a phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e589c253-fe30-4242-bdb8-5423234b0684 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f6a46fee-55b4-4618-b69e-587379dc3404 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:729140a8-7910-4dc4-98d9-7221640a5215 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:83d9628f-45cb-4205-b2ee-9d0717eb4f33 phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:0e9576c9-4308-40f7-acfc-d587b41e81ab phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:35150594 uuid:5bc3b5c9-631c-472c-a427-24eb75a6da2f phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:985e3aa4-d381-4e71-8b24-7d0057be4ad7 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:bdd6c5ff-6a02-4a36-98f8-d2d41707a3c4 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:1a195bf0-fab3-404f-96fe-de8177214a90 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:07533c7c-de12-4e99-9989-6ed3870d47a9 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:440c58c2-cc02-4ec5-a948-780075caff90 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d3867b74-297f-4f0d-b1c9-bf0b383d00f4 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d9ca1d51-9a3b-4e51-8968-e071ab59b996 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8406c98b-27c8-4256-b9b7-8c16b56e7d4a phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8cb6c39f-f2c3-4a96-818c-0eefa1f0adfb phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:631845fa-7265-40cb-8d38-1c74f62b76ae phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:6acd9966-5dcb-459b-a6c6-fc4124720e37 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:138c8bb6-3cb5-4610-a9b6-3da902a234de phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:5b47131c-1997-424c-b38f-7671858e630e phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:814e40b8-c7be-46e3-b706-2ca3e6580f8c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:bdc552c1-0f96-4634-9e46-9647715e8c08 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:062a2bdd-8eae-4a0f-8d7e-d028910e67b8 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f641c708-01b6-4a06-8f29-4106c5b3e67b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:be54366c-717f-472c-97bc-b104ca4f28f2 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:08f5748b-f28e-4909-a925-dad7f67f9e4d phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:31332438 uuid:b238d62d-7759-411d-99ac-6dbd014c6708 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:594b5752-c976-47b0-a623-a80fecbdd314 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:31332438 uuid:4d52d294-edfc-409c-9aae-420e07786585 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:c44c27c6-cd94-4188-b732-17cccb0cc033 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:0efd513e-613f-4d93-935b-4cacb9fbbfd3 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:b347ada5-444f-440d-a217-0f7e0895456d phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:45a65b7f-498d-4266-8d52-2239b9603f5c phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:f5011a6a-42d9-4165-8f04-2e4c288b3e92 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:b939899a-ef16-4331-93e5-a3504a2f5030 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:3d846d0e-7b68-4242-87a3-b52dacd7494b phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:63908003-0b53-4957-a523-2c2092028179 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:277fdf17-b8a4-4538-8569-8bca7f379bb2 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:15b4235d-e280-444e-ba8d-c6d22174d873 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:48d75876-8464-449a-89f6-e6caab677d7a phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:db38c5bb-b74e-4027-b1b1-03b335633abb phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:2c5e025f-a6d6-409f-a099-68a73dc6aa34 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:1d93887b-b717-4028-bd16-1584301f22bd phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8aaee348-4e4e-41ba-8daa-1d6186626fd9 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:50849ae2-bd28-4ac0-ad53-007ba18b465a phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fdebf88c-c5ae-47f0-a8a1-68cc7a903324 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:55ddf489-cc8b-4ac9-ba0a-39104d8ee540 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:31332438 uuid:7fd70742-57e8-457e-90c6-73068d403df1 phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:a239a04a-0ec1-47a0-ae8e-23ad5f2ce550 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:b8e2906b-7926-4491-92ff-d671cf124beb phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:09c6eafb-70c9-42db-9670-1576a13d71b7 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8cfd023f-26ad-429a-9527-9f99310e0fdb phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:bf2c863c-663a-40cf-8b16-8321cf88fe0a phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:596985bd-3d69-4d16-8d5b-86d76f37d81f phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2a52a061-8d33-4d76-a500-84814f11a8c5 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2bb7ddc8-d2af-43f2-91b3-c1ff2eb44133 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f284c306-8f82-42e5-9fb2-15c6ecdb2476 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:abe9eef0-9d28-4c8e-aa01-1b093dba3f12 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:22d268c4-768b-402a-884c-c6908a243f04 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d705f41f-d258-4fde-b76e-4da3db672079 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:030370f5-9611-4b0e-8235-42f99c211ae3 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e46bd872-95a8-4a9b-8134-b3b02aac5d28 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:23263248-aab9-4fdf-82bc-7485043fb509 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:36331550 uuid:ee35b387-a950-49b7-843a-d3bd852cbdb3 phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:f618bce1-4274-43d0-b50c-e7ba739ffa2d phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29050398 uuid:80306e25-7cf1-4b98-a648-cb9162d94b68 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:ea603ac3-b820-4b9a-ab83-898f32e4714a phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:f0eabea0-1152-4fff-bde8-f77c659c80c1 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:48304bfe-15cb-4ffa-8dc0-e54ec535577f phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:e35efc65-4bf5-4642-9866-5a3bf884a1ac phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:0e539646-cfe2-4e92-953d-a6cab42715c9 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d59e71c6-6088-476c-a5ff-e2b9c623db12 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:31c13671-e179-42bf-ad51-23b644bdc313 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:088fd64c-0f37-4e9d-98ce-8fbeb2fdbc0d phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:de74f2ba-94a5-4c34-a014-299f17c971a2 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:a54cabd1-e60f-49a3-bdb2-71eaf26fb40f phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d6200820-47a2-4425-b416-2011a87f0177 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:df99f52d-ef7b-4a73-bc69-f6e8eb6b2317 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:43b50c80-79ca-414e-8cbc-eb7f640f17f6 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:badf6c63-9310-479c-a515-febfc6cf1417 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:820239c7-30ae-482a-b270-7ea4db93fbe9 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c3b7f40d-e277-44f6-8abb-ff37a60dd6be phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:0ff9f40e-ce39-43c3-8178-9219b6d5ed96 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:7ce129bb-a501-4147-8d28-145d642f7948 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:61bc4b52-0ef1-4f13-975a-5f2ff3229598 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c23ff1c5-cd88-48df-a4a6-8b91b3580e02 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:29050398 uuid:566f4d36-cac3-4c9c-87ea-a4242b6a16b3 phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:4c0a4fe9-223c-469d-b375-c3ba874841bd phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:c6f8714d-7717-4d9b-a1d2-7510e472263d phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9798a46f-98af-47a9-85ce-716482901ba0 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:69047c21-7962-423c-b4a0-17e90473d5d7 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:4803a7c7-93aa-47cf-bf97-3eeb1e334833 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:ab13dfe4-18d0-4907-bfc3-0e78746c377a phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:5beda684-e486-4250-b46f-e2393d31ad61 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3aea3c54-326f-4fda-bb9f-4ade081990ad phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:7af0df19-a736-4cfc-8f43-ed353d040985 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:00fe7f76-9669-4406-a4d0-43ecb148f1d0 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:95717290-4e77-4f73-9831-e8386939f07f phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:950d3737-4ceb-4b4d-bda7-5be1b0f7f6f4 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:241390e9-478c-4e97-93b4-ea9127f2fa75 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:cf72c7da-7cca-4f8f-af40-0b4a960ff220 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:59dd14d9-c68e-40f3-99a2-a651fcc33560 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29050398 uuid:825b1f94-445c-414f-ac27-372e8ce42d25 phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:8cdc9755-8074-4e44-9638-4c44c546620e phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:36331550 uuid:46ede410-86b0-4e57-b197-3bb5230ba99c phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:69800419-6a46-44b5-8512-388f57282db3 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:c7f9ecfa-8bc7-49e3-8eb4-af56b07508f0 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6cba990b-6711-4712-836b-e0330e4b3e5e phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:93f4a311-02ee-45ea-9c18-55cc1d0410b5 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:f8918957-9f50-48c2-8e4e-713ba6f6a9d6 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6f009aed-b351-4f60-9e47-4cedefaf7616 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:e4c2ad1e-a462-4a72-b9ea-da6a40b2fe38 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:58a477aa-aed2-4dab-b400-60dd7afe06f5 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:747aac55-ff08-43fb-b67c-7a2c526c0be3 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:00714a00-8d7a-4c3c-aeb6-6c19f5a4a436 phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:36331550 uuid:a88b8e4f-e811-4b5d-926e-97852377cd8e phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:927417b2-f0ce-4e96-8bfb-aedc4643d417 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:a313df3d-fade-475e-a9d8-6f246e7c9f70 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:9b6af6e8-94e3-4752-8e4a-225bfdb7a796 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fae10c52-cdc0-4a2b-9836-7b6062743581 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:4541a7b0-c5fc-422a-965e-4282c2efcc02 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6186037b-6b7f-41d8-ba64-3af56ce64d91 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c5d45085-970c-4c2d-b385-5ca5b7415a21 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e5eadef9-4233-4501-bd43-7b13563d3330 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b364c584-800f-4b8b-ba9b-8a27b9daef91 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:06e5be74-77b6-4387-b6d5-a72cc23f231e phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:99149544-cced-4b8e-8f5f-f64b35878282 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d070c505-d911-4d58-aec0-a2560fc16c6b phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:36331550 uuid:39dbe187-631f-4591-b6d1-bcf3cba7d594 phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:399c7fcf-a772-474c-8635-f04bdbb5993d phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:a58e3730-3a04-4bb2-bb56-bab2cb5ec9ff phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:aee933b1-b229-4f9d-8796-2c50a1fca4a2 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fef135d6-c6f1-4a8c-b662-b4ad1d654297 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:58551a3a-bf34-44ae-857b-d2b369e476cc phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2c066ffb-5476-48a3-a564-0926ee2ed311 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:cf1136bd-24e6-4c3b-8387-21507765de0d phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6338ea43-0fe8-4a02-83a5-c7ff2cf2d7df phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:a9b04862-f97d-446f-abc4-bae84d7dc53c phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:fb2c2c72-b706-4017-80b1-e40a5d5497fd phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d90e0ae0-db55-47c0-b013-e8875d71bbd8 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8397e3b6-88be-4202-afc8-1f0e18a9d433 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d4c20c2a-e17e-4677-82d4-81b54e03a81a phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8c553adf-ac46-40fd-b744-2a07be0446e8 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ea6d5e13-b34c-411d-baaa-7cf153fb48ee phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:36331550 uuid:922f473f-1ac7-46d7-8784-cca6b49a0bf4 phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:f26eb786-2f80-41b0-bbe8-df60fee6a098 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:84eeac15-62d9-41a9-9782-a2c007641471 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:a65c1133-d0ff-4e11-b83d-3639d88009b1 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:77969aa0-afb0-4bf7-846c-6fae8c919b09 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f49d7633-782c-4361-87ef-bc0bcbec8a07 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e672023f-6663-4b81-85e5-47955f5aca68 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f0107d8d-41e5-447e-be02-086fdc633107 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f9abb03f-d783-4762-8544-a9f7849fe610 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:be466781-a5b2-4241-9cf7-29a6183e0d7b phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ca401f5c-ad50-41c3-a8d9-d688660de1f3 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:eed38913-ede4-4240-a0c1-c10464389d92 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:8097c194-9205-4fa5-bf9a-acd894431fdd phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e0974962-6dc3-43f4-b75b-df08dbdb14e1 phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:35150594 uuid:8d062244-c1e0-4f81-80aa-f51e39312b2b phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:f7f4ddee-cf13-41cd-bf04-798ea256e554 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:70e6ab35-fc29-4a21-8f23-32a4f87753b3 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:1c3d1f52-cbed-43e4-b1c7-8549bc8587a0 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:8a946adb-ebc6-4fa2-805e-889552477b11 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:93df58a1-a28a-45cc-83e7-7cc7f2a9205c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:1ca5fefb-7637-4ab5-bbc2-3b23c631866e phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:434600bd-da2f-4d29-85f8-a290a74ce8ca phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:bf22990b-61b4-4d6a-9692-868e2497a702 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:a803ff83-0326-4ebd-9e97-122c6cdcd820 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:7ad271b0-c254-4f95-be56-11dd6845bcf8 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:abb7a835-e02c-4652-8a00-ff65cbbdcede phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d5b6ead9-794e-48f5-9649-39f570dfd018 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:88df4f8c-9016-4f3f-98b1-1513c7a6240b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:513d8873-b689-410c-b4ac-dda529abaf61 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:27904910-65cb-4c82-b712-5a2c804cd40d phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ee179f4e-81b6-4aec-b50f-b4af21f2889f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d2e1709f-88a4-4204-acd0-ee7ba1778124 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:3f412d0e-6e7d-43b1-b574-716c48cdd193 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f5090add-a9ff-4283-b42d-e3f7a119a8f5 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:31332438 uuid:4555e555-bc1b-4ac4-a546-bdfff073e623 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:20427405-7a9d-466b-ae28-8ced2476ccef phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fcc9d4be-0812-48ba-8a11-9ec20e9cb08e phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:809b6791-b4e5-47d3-9d9c-b2d571041152 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:91ee06db-16dd-4c74-8ccd-8009e79aaa81 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8efabdfe-90fa-4375-85d0-56726bfaf5e4 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:0c9ace27-ba9a-41e2-bf81-e0404576d7ac phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:587e711c-e2d1-4ba8-aac8-7e0e9b107894 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6124f772-dcd6-405f-8b27-4b25e508d8fc phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:cea08135-e7aa-4dcc-9d06-f50f7ce7a2da phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f2e60e9f-3447-4c6a-9e90-174a5e332e1a phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:11c321ed-6146-4925-986e-baa81f4515a6 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f1122257-ee64-4001-b3e2-e20c110bb1aa phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bb690dc6-9b34-4acc-b7d7-d875093a0902 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:51ae737d-a42c-464c-9876-1b6928809125 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:54149c9b-ccf6-45d3-8448-0a39a9c71c28 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bb6c74e4-6347-43b1-afa6-0b3bbb1ac8a6 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:328d8f8b-6b40-4689-b75c-3adff931e915 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:cfd0a78a-9a1b-4879-abbd-7ccd09e06115 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:999918fa-4c57-49d4-bbb3-39d6556046a2 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8aa1874c-a3f8-405e-af80-300224dfc2a0 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ed33cddf-5a54-4dc5-93fd-2ab38d9158dd phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:35cabaf1-835b-49d2-b41b-47ab7a93590e phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P1Y3M infores:phenopacket-store PMID:36331550 uuid:a66141a0-6c06-4155-bbb6-3a2e1e042082 phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:6bc7d337-db09-400e-a857-2f8bfa4b62e6 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:e83b7569-e84d-4003-8896-8c3c5ad60027 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:22cd4fda-2c96-4fe2-b317-46c9e202100d phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:30c1c884-0a91-45f1-a5e8-3eb5068cefb9 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:8a268efe-3135-4b9f-855b-934879faac6a phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:4ad707bb-dc27-4b9f-9a3e-907d58427d08 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:3ec1e43d-2540-4dfb-9337-24d3adaeae5a phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:c7795df0-511c-4319-839f-164372a081dc phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7c8ac269-9b7b-4c61-9d26-31846a2ca6ad phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:19dd5b88-54c1-4064-ae3a-7468dc125fc1 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3b72f8f8-e76c-42ee-a8a7-b7d6d11aec65 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:58d35864-5236-40f4-b027-df7a79c6855e phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9a9af8e1-60c5-4d57-91e8-dd38b920075c phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:9ad10194-e684-4509-a5a3-fdbec538a2d2 phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:f11e2397-aa73-40f6-8794-7400e93dd018 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:31332438 uuid:f9b4570a-342f-451d-9ac7-87669cd5952f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0003376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:31332438 uuid:3549c2e0-947e-40aa-b068-d5fbd88fd0aa phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:16f70458-c5dc-4290-9cb4-52597e2c1874 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:3f23211d-beca-4244-b7ff-0a6a370faa2c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:5c268452-1984-479a-8932-0fe57d610f9e phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:31a9e29b-faba-4bb4-9fa8-e5d39846b03f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:fadcd35b-0d33-43f7-a739-b52ebcc4b5cc phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:327e5312-89b5-4aa5-8797-aac7c91e8ccc phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8a4fc39d-5891-4068-8bd1-4925ef588636 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:b9edd148-f66f-4cc4-bc62-efa0d83ea227 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ed652340-89b3-4546-95c0-634c5b8700dc phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f25e8de1-2564-42d4-ae4e-5a61d473d606 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fe700986-3bf0-4c5f-8fd2-508b04f4e80c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:9810fef0-796a-422d-95a9-b0b96aafa880 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:2a36380b-107f-4273-8eec-fd4355fb65b9 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:2054eeb8-6f4f-4ae4-b9e7-77e19af74f1f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:620b1b8b-abd2-4156-9e3a-2491022f39c7 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:1edf74e1-7763-44db-93c1-d68ad1cb1684 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:55b19c87-cb70-4a51-832c-ee8189e9bb36 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:31332438 uuid:d373e57d-2e14-4d22-bb60-0c809bdb09d1 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:1a21cf6d-8781-4392-9476-73a621f5b246 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:eb5a2083-025e-47c3-9d4f-166ae13395f2 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9c58f417-5497-47fb-8c58-14c387ddca3d phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:05fb8d4d-f56e-4466-82a9-d9d25471925e phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9cb5cbc4-4a3f-4ebd-8f24-4baedede11b1 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:56a4c5ce-da84-40fb-a7d0-cd66d9a556be phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:247b0b69-aa84-4f14-837e-18b614a164b0 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:169ee64e-50e0-46e2-befe-b6403d717088 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:d1ae45dd-1345-4666-a83f-85ff0d1de46b phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:a69bb0ac-b1fd-4a3e-9f1d-7cd1b9d890dc phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f6f87454-8d41-467f-9248-1b370027025c phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:636afc96-a247-49f6-9f05-7ac9c65e58ce phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:7a0f483b-bf34-4081-82c8-fa9a1c958673 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:2f9fc143-a264-4f92-af96-d49168812d37 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:072b672b-c22c-44ae-b476-343ed9fe0ec8 phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:5573aeee-5ef8-4c26-8b95-b726d0a8fe0d phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29050398 uuid:32d55e03-9311-45c7-85f2-ecedf665cbfe phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:c37fa444-411a-43fb-9b83-c168f304415c phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:22258530 uuid:5f736798-573b-40bf-924a-8b76e81e3990 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:22258530 uuid:99311163-7913-4d63-84f5-9f19cf6f0230 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22258530 uuid:ad065d0c-096e-4277-b7a0-bc70c56f66ef phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:22258530 uuid:d0eacae8-7021-4074-a7a3-93c2b3bbfbc7 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22258530 uuid:97f43075-bfe8-4083-ae59-efd8d249e7eb phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22258530 uuid:01b73d67-cebc-4b2e-93df-f115a5191429 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22258530 uuid:5a8279b3-8285-4cfd-8384-918c01a8f23b phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22258530 uuid:2d623a6b-89bf-4860-ae78-6db8874d73d5 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22258530 uuid:1c7f322c-6f70-47ff-be23-b9f3430af882 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22258530 uuid:457fb7a6-9fbf-4f42-ad2c-74f8baba2cc3 phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22258530 uuid:047d757b-c6ae-433a-9025-439b4a1fd90e phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:d017cbad-e24a-4070-8649-d10ee4b98686 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:a9ac8411-9504-4b3b-8144-33f3e68d9116 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3e38c51b-471a-4500-b24e-d1fb54adb626 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f1bbbd13-8cd3-4677-9680-d28fcc35c85b phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:5b936c5c-dc7c-4f65-9a93-b5b97cf66c8e phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3ffe980c-867b-4123-b920-eb70cafe72c4 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9f815ce8-702d-4a1b-a3bd-ed667980b67c phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:af821261-bb5b-4078-bf17-09b9c0bb571f phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:89f39d1a-9f8f-447d-b07a-971e7023e789 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:582cb926-6889-42d2-857c-91ac727d2bea phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:329bce0c-2870-4417-a39b-e4e728241235 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:8aac28c0-058d-418c-a65c-7738f9047346 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:3f888f6a-61e5-4e24-8aa8-5f0a80b69804 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:2df5992a-bcda-4097-ae54-7749d0b9fe56 phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29050398 uuid:106c809a-475b-4823-ac3b-a38fbccf3c1e phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:053f58a5-7fec-4bdb-a714-b2febd433519 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36331550 uuid:09d06dfc-24eb-486a-8477-56e755a0341c phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:36331550 uuid:1b11309d-6746-4b84-a6fe-b1118badb8cc phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fa2c9aa1-fa9f-4853-9a80-584f00e1958e phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:df2fc332-dbef-4ab0-a5d7-af806ef232f0 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:fd1e686b-98af-4e4c-9154-433ce9677e28 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:90f5a99c-57ef-4adf-9220-e598a16be22f phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:716705eb-12a7-4c28-915a-45433522ed03 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b1627919-b571-4b66-abcd-43a25ddc786b phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3a363353-736e-4f0b-99c4-ce99fdac2e97 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:178b8223-af5d-44f5-bc9c-baab98905c21 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:38c14e75-f2ef-4a0b-8c45-1bc2056e603c phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:30ea5ace-0785-4a8f-8439-d5476badaf87 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:88d49fc3-91be-488a-aa82-46d796c0b983 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0635bc79-be49-4fa4-a025-9019d2a8afd9 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d35fae72-1a17-4ec1-940e-6799b790d2ef phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:037ba913-9723-4da2-8414-b21c39249155 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:15462080-2b9a-465a-8f17-3062d584061e phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ee38c61f-b576-4312-b97d-56bb2bccb70e phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b583913e-d9e6-44b0-b32d-0655f86bbba9 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:efd45d60-1ac0-46c7-a4c9-d46164853a03 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:20dfe1bc-6472-4974-8f7f-07831ed2b4a8 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:70c4145e-fe6f-4e8c-bfb0-e2a3517ed3fc phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:4a73f51b-2fef-4c0d-b8c0-a654613e59ed phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9ca1fc75-0b21-4ffd-815e-cc0a0546ef0a phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36331550 uuid:5f254e50-7f98-4fb1-8699-9b45138518e1 phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:2fb4a721-fc1a-4f41-bf8a-a57529afbe0f phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b66cbf44-42ae-4158-aaaa-5ba79e5367f0 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:5bc83b0a-6d29-44ef-85e0-b78eb22f4da1 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:520436c3-7ce4-4739-aa2c-e295eb9c7b3a phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:ba05f73b-19fa-4da3-a602-d199b586934e phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:eed9beba-c5da-473b-8e87-a77a5ba6c6cd phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:84c0dec4-913a-4fe6-809c-f889e3d02214 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:e346888a-cf6a-443e-9c5f-68fa48e94227 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:8dbbfe6d-791e-433b-92bf-dd15be82fc36 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:855036f2-1ee9-43ab-bc9a-849e6ccec09b phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:ae070e70-60af-4933-9a44-6271024766d9 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:ec7de2a3-2d44-4e89-88e2-15919456b963 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:b4187487-2e59-4825-bc0d-9724b0e03b2a phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:e506a958-9bdb-437c-ac5e-29daf3ed1398 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:29050398 uuid:e8055a24-093c-4791-8d5c-d052544dd4d5 phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:9567bd0f-ae66-4445-aa7e-c0d27fc5ed05 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:8859eda3-c268-4b73-9115-4ee133b6d40e phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:74a27dd5-7469-42a2-ad63-8b87cef520da phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:49aeb946-5bf8-430f-8e3f-7a5b74fc7ac3 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:a37f435e-309c-4ba7-b59d-4b73d130c3a6 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:7cddd34c-4970-4146-909d-2e1be1facbb2 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:293881d2-1369-44ba-99cd-c684a3c90dd5 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8c9c4bd5-39b8-47f7-9215-e71fb06be897 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:c15ece63-53a3-4852-9dac-b72b8c1975a0 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:247e2103-4a18-49b3-81a8-2407deee5bb8 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:681dcfb1-a24c-4c0d-b880-47813c393d47 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:43c41a29-01d8-425f-81be-8153f8e733dc phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:4bdb8282-3c8a-4d95-a9e0-b0ba15d6b04e phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:836af4c2-3c3e-4bb6-b14b-79070a83c1c4 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:5f2282ae-daf5-456f-9444-4f6f9690af10 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:0b545efa-0eff-49b1-bb22-07552f76857a phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:cc8b1fb0-5f78-4d60-b433-a826d18d9a0f phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:3d0fb048-c296-4d54-bf3d-bb30aca48611 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:44a777ec-07a1-405f-b7d8-50e03aaa3323 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:dc530f09-2153-46b3-be6c-54ed688eec4d phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:26ac6825-37f9-43d7-8a9e-46cfeadff9b4 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:017fc45d-424c-44dc-a774-ca362c3a00fa phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:b53a8a0c-4fb1-41d3-91f8-9892e5102e5e phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:70a24042-53c3-4250-ad7d-19cd5002b0c9 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:82e7fda3-deec-4d44-9ce8-c20eb01ba078 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:12ca0909-e568-4742-b6c2-307b52e5f2db phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:e2845a50-ab0d-45eb-ae62-518c3f3f5b82 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c5822d4d-c103-4bb3-a265-c94c0a140659 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:cb68a9b2-b123-4694-9ac4-440e9bcf07a9 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e3bb5d42-6919-4bea-8b0e-2caea2ed1df2 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:1408a8f2-5707-4751-afd0-5f9e05fb11ff phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e924ce35-c356-4492-b82e-b47c6a2c2c2f phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6c081310-046d-42aa-bd00-6d99bb5f0709 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:4bc136ac-1eb0-4587-bcf5-a70d4110892b phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:2d95036a-53ee-4db6-a341-43a4e5a57f3c phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:35150594 uuid:9af1d0fa-13c0-4b7d-87ff-a79004b4a636 phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:f9b02bc1-ea3c-4af2-8601-b3440e31eefe phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:470be83f-10b6-4447-8320-019a50cb0803 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:573f164d-ca32-4745-8e60-63641ae70341 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:c0b8e478-3e2d-4913-b73c-921732e3ca1f phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:8de14d75-f916-43d5-9c0b-11dfbaa6c317 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d37b307e-be9a-4f21-aa10-2ea301293dcb phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:26c61347-6cb3-4bc0-9a57-0e8f09c31542 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:dfed12ed-d969-49fe-af56-dcd6e982350b phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:693c64a9-b913-493b-a254-4c7386af58c6 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6ff3c7b4-4f49-40f2-a578-386e32648b7c phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:2d71656a-3f1e-4b12-854e-d2d512e43a2c phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:00008c6d-06a7-417e-b49b-166e6a88e074 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:29a9017f-e4d1-4a31-81a1-36f828c19960 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:35150594 uuid:97abb7b5-d1ba-4f0e-ad38-a001e7058088 phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:d4d9d452-7426-4882-b485-60bf012d0ece phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:837203e9-c4de-403d-9ade-a21c60e378d3 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:22bdb278-0524-486c-8874-80f4a31c8573 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:83b59443-5c38-4f55-aeb0-7812e30403c9 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:76e56fd6-fa5a-48e1-95c0-0aeecf828dc4 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:974786f1-1eed-4983-b566-2620476f2e4d phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:0c9b75f6-25b3-4998-9867-7ce2e48d260c phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:aab1fa3f-75e1-4f0d-a0b6-03d8015d00e5 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:08c8cf62-3c3d-41a7-aa27-8fccab8ea0ba phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:44b0ed6c-4b7b-4184-9104-89b94895d8c7 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:109883c0-5867-4dc9-8266-3543b30f991f phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:47ecdf0b-41e5-4760-9ad8-147ca93d481e phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:21e2391f-b1be-4e43-bd93-e15c6fa37474 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:c0ef2b45-36b8-41a3-b3e5-ca675d404f80 phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:54f1439f-cbe4-4cf3-8c2f-28a5569b945b phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36331550 uuid:76ef5278-7969-4540-a7f2-5263daafcdc2 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:36331550 uuid:b2d461c3-3f02-4cf4-9aff-85efc6cce5dd phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:063ae9fe-9786-466a-bead-ebde43e6ded5 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2b34c76c-321d-425b-b862-e997c665b989 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:c15d1025-3664-4991-8789-7f9f460b1331 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2b792724-be1d-426e-9e75-87470532c5c3 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:56fd9147-dad9-48cb-afc8-6c78408405ba phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6cd9626e-33e4-4931-9b59-6765271ba553 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:02d6b24c-db56-47f4-afc5-c8e5d621df2b phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:df2e6033-94b5-4727-a81d-4336d5e4dfbc phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b9250e48-be93-4ab4-ad46-8dfa0c5a4042 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c3ccfa4b-9684-42b1-9b09-a62b6d946a90 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:18e318e1-0b9b-4291-81d6-178383eb9974 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d153ae3f-f944-460b-8296-5f94ae6aea15 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:a707be43-3294-426b-931c-a826744b0bb1 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:aa6ab847-a3fc-44c5-a7c8-e4802384517d phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5a057b9a-ed8d-4ae9-9149-6d0cfa520b48 phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8b5377ee-7f20-4d0d-993d-dd90ba805a5c phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:d4b464f0-4446-4bba-87d7-1a81efdeb8af phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:6fc3a59c-7434-45b7-a8ad-c440318faaa0 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:d1af3376-fa78-4ebd-9a1e-fc21b8430afe phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:e8ad5ddd-f91c-48ba-a341-9f2f8ab4845d phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:c631d6dd-68dc-4966-b9be-d4cfd249259f phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:53da6c53-7cd9-4f96-a151-cbc3fb6480a4 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:39f6d6c6-8630-45b2-b9f3-031a3f4ac057 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:fbe0e1ab-22c8-4fad-b648-cb8c54927527 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3192421a-4fe4-453e-83ed-83802e851481 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e32dea73-c150-45c1-854d-072c01854f27 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d29f76fe-0201-4bb4-87e1-f184f380b2cc phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d292f848-71bc-44d6-ba07-1e81efc68dcc phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:57d385ad-8ec8-411e-a7c0-5c01662d80be phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3dcf0f69-cfff-442f-8d16-87be6956e7c7 phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:53266f4f-53a8-41d8-a93a-c98fb79cb79a phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:2a50526c-7566-43a7-983f-1272b54a42c9 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:29050398 uuid:8b6f09c0-14fc-4a73-8680-63b510588e0b phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:29050398 uuid:5ff8b54c-874c-4cd9-a1d1-4a15008505fe phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:75016eaf-aa1a-4aef-8165-94473993d2f1 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:d3a3065d-0c5b-4d4d-9649-114e1a443382 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:abbdb93a-c43b-48cd-ba98-dfba0006dda4 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:c8ef8936-8f3b-44e3-b5b5-d2ba2c8ddb22 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:84885e9b-4bfd-43ae-9aae-20bd93915b6a phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:bba79cfd-5170-4473-af72-15f8088f3ac4 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:3c101d33-8bdc-45bf-b239-b5d8add3e200 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:87ce1447-797c-4d9d-affa-071e5248a628 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:51ce3496-70f8-4cd8-8829-57c795966e52 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:69d64928-1c3e-4e44-bf8b-686cda2e188b phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:83eb8812-33a0-408b-9a9e-9c1583f7ccd7 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:259dcc4d-464b-4373-bf5e-fb225b5ef5d7 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:8038cf19-9c11-4f66-9b32-fab76cebbd59 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:12038cbe-a4fe-4fa2-a31f-c48b79498093 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c2d26a8c-3e64-431b-bee6-b8a6ba56b807 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:2582597f-0ae6-4d08-8d6c-afa98a3b483f phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:fd60d9b7-3418-436e-b634-7bbb8e73ebb1 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:3bbd4c84-390d-479b-9638-a30f32e0ce36 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P1Y5M infores:phenopacket-store PMID:29050398 uuid:a5784ae1-b075-439e-9385-72ac81c74904 phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:f0b86d4a-9096-40a6-be0d-a4bbe40428d7 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:5f20d096-e236-43a6-ac4a-7fd211eca71f phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:dbbbf249-edb0-401f-b9a7-a39360400b6a phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:fc4a26a3-99ce-4277-9f73-772f4fdf21eb phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d742ba7c-71aa-414e-a296-fb9806bd9e52 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b53ca173-65bc-482a-9297-11d1c695bff8 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5e61de4b-9730-4df0-9620-9de2b2089149 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b95d18b5-5483-4862-9056-f3593f64f773 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:96b7a028-30bb-4f28-a5fb-223490e8d65e phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b2d66d08-8b26-401d-899a-374a7383281c phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:dd2df497-46f9-4c44-8326-03d79a1ed894 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:64d7cca2-dc34-4cfe-b743-07072c0528a0 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5ce44307-9e71-495f-a9d0-4b9ae9ccc292 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:35150594 uuid:d5b487c6-66a5-4775-86d3-b95a396175c7 phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:672f98d2-5acb-4975-b3f5-0e1a8da8eb54 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b3b95b67-8422-45b9-979f-17a8ce7a5bd4 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:cdcb6112-dc0a-4342-8e61-46b3265efcb8 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:0f1ee86a-7032-4dee-8c28-23d4e87f090e phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:672d6b28-e7e8-448b-8d98-61c92a5587fb phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:e8eb39b8-2ec5-433d-9157-bce81d2ada8f phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:9bb32739-1135-4d63-81b5-c68a161291ff phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d43f6452-d3e1-469a-9207-adde94061c05 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:858fe913-07dd-45de-8688-235e2e10f87d phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:b2ea6525-e6c1-4505-b455-c0e05fb6fb75 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:93650d79-df6b-438f-bbd4-7fc0a49be4ba phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:54775511-3997-4c3a-8479-b5a46643021d phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:6b5ff24f-0764-40ad-a45f-78aa4bc52379 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:30d7ef98-8693-4438-a807-e3cfca7d119f phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:63aadd60-12c7-4735-971f-41be0086fda1 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:98d61fce-d837-466b-bfde-0ad3a2062acb phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:8d1ace02-cd07-49e3-82a8-ab94040ab2eb phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:45d7e0e6-2811-4b7c-aa80-c7f61b83b25d phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:ed849adb-c3d6-48d0-8356-614f32b1b835 phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:540582b2-67a2-4f93-8acd-c618d1c4a4d5 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:d779e6b8-4013-4b18-9880-de421d54ff29 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:46f2d741-4c07-4716-ad70-d684e1e57ea9 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:fd3a7fa0-b591-47c0-bd88-acc02d7ef6e6 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:323ae11a-4505-4df3-960e-cc155766cea3 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:5c6d0353-a53e-49b1-8e3c-bb8a1c7b227e phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:515507d1-f4c3-4ea8-9749-749701619e95 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5ceb77d2-aabf-489c-aad9-d595b50e7a02 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:56ae5414-e832-4d8d-b217-588b2a72a6b2 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3bf279a7-c487-4eef-aa90-e2d43fb3ac19 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:2850abe8-1a7f-41b3-993d-40c3a7d9cccb phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:266ebe04-b572-4392-a71d-52352994d81b phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:a225ca7d-bdb0-47ed-95cd-39cc3904b21e phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f28f2446-a0fb-4d79-9032-69934586aa45 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:03b33914-5c1c-4cee-99a3-b02c25299b12 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:35150594 uuid:216a4dab-e177-465b-8f74-4e48b402b018 phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:da81edc2-72d8-4233-a7e5-79c1d54c8f8b phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:0dde9d98-e31f-4cf0-9c6a-f9c9f69a4563 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9a70c3b4-68d5-41e7-82d2-689e3ef31293 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:6d7fca7d-b59c-44b0-aa94-b8755ebf0500 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:32ce6ff3-5888-4f72-9a2d-7fd60798aff1 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:8919168b-d9e0-4b81-8072-a92596152672 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:428cc030-2634-4774-ac86-d5d99812a0cf phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:97697748-1463-46c9-a116-7f3d6cbdb3b0 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:e8c425a1-ad1f-4e60-b991-cc3f0a13a3d0 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:dbc63d76-4384-49d4-ac77-a311cc71574f phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:5e4ab34e-27ce-4d31-ab29-41e369e27d8b phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:5bbcb684-1552-4e10-a4cd-60da08e7108a phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:60a7d3c4-dfc6-405b-9608-98d2b74db6a8 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:98714012-a4b6-4665-a0db-f9a45b422d08 phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:29050398 uuid:8814d96b-5870-456e-8fa4-8de26b6f89bb phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:7c65773e-13f2-4dbd-83dc-541b80feba99 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9b66fa21-565c-4a0f-a8e3-d0691c79719d phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:6b8cee6e-6eda-41bf-99ab-7bfdf09f643d phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9dc69591-2938-466c-8af0-f59779bbef33 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:6a7e6f85-edc0-4014-b846-0ad6c4771767 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:32b4f449-0f8b-40d2-86d5-f89f9fa0b297 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:299244c8-e136-4105-b00d-b86c0c157ea5 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:87c6049d-4df3-4833-ac48-79e853832824 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ebcfd6d9-25ee-4640-ad26-7cc35f96f38e phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:5d7d799b-4189-466f-a38d-852b5ba2bd2b phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:213ef504-f5e1-446f-94cf-437eedb7eec2 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ad8a1a5f-e4ef-42bd-a898-07c80af393a3 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d520e347-2010-4bc7-83ff-9dddda89e4f1 phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:0c339594-d425-4877-a8a5-974d5877f9fc phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:e66c5fee-4dbd-4134-9319-3f24c07476c8 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:ed012f2b-70b5-4cf4-9917-2749649cf3b8 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:d91c4e1f-3783-4003-bfe7-4d10b8354666 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:5c4ddc77-9d7d-4d20-952b-02a9a3bdea6e phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ffc08fad-185a-4ca9-a2ac-2747543abef3 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:15e5c19e-bd14-4ebc-93d0-ced583f0ff84 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:aef990e8-3e87-4350-ab0f-f93f3e77c67a phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ca6defbe-8c48-4512-a6af-ff3720350682 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:087de2f7-56b7-4dbf-8a43-547f337adac0 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d2d131aa-e987-43bb-bcff-8040a0d8d779 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f875759b-5b85-47e3-867c-dde9b1bc40f7 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:151fd098-25ac-4125-b542-bc965a3e8f9c phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f03841fa-3ef2-497a-b8dd-877602f3507b phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:64e36fb5-c66e-4a7c-aa6a-1c5a8547cce5 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e4480eed-b825-485b-a60d-b04a7627c6fb phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:3b18accc-7b29-4f4e-bd52-1e809a391ebc phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5097399f-9631-496a-8465-d2f297426734 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:929ad325-2153-48d3-b5e5-4180f140041d phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:02ad13a1-a519-4d93-a333-36098efbb143 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:ade8b802-c846-4429-99a4-a1e8a28a0dde phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:89545136-7885-44e0-bda3-b36413fe3bba phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:117dd0c8-a334-44bd-b57f-93531ed05d81 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:432e9dfc-cf96-4184-94a4-a0f2ce8c1974 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f209bbc4-657c-4e80-994b-801b93d34110 phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36331550 uuid:41ee5482-f68d-4bbe-b617-fce9692f320d phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:30983056-9c72-400d-8501-39156d86ff18 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:5b00523b-a780-4485-9110-d357e53e2196 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:101a3f9a-67f5-4845-a6da-8cb29f8dfe28 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:1521be23-242a-41b6-998d-450c32df933a phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:449dc211-0259-409b-acec-7d63401b452f phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:3068323d-0ca2-4374-bb80-9833d4e4e459 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:1c6d7476-6de3-4a53-af81-d3b0f5a34028 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9ee9e0df-29cc-406c-ac6f-7341a944966d phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:9f11c09c-72d9-41f9-b6c3-fddc101921c1 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bd46968b-786f-4171-bca6-110c48dc159b phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:48d79364-03c6-46b8-b826-fea60f297b8a phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:19302232-de5c-45dc-a855-613820315054 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:27cab3fa-56f7-4ff4-a1e9-a754a3a66c31 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bae56777-b7dc-42b9-91c2-7b2ccfbde7d8 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f959c0e3-4e07-4f1f-bf95-6dff8b5e0431 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e7510170-a18f-4bb9-8a3a-79093c7caf87 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:82d4f497-8315-4c86-acf8-9693fce5c46c phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:251bc224-85c1-4478-ac09-76174a7baf12 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:01a6c3fa-2301-4af4-99d7-dc3befd914a2 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:0c436c18-de0c-462c-a7a8-41f3e1a94e5d phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:bf3ce0b6-0eab-4f9d-8a87-7eca43d2f3f5 phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7a01c5b6-643f-480a-aee3-d0e768a7904b phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f3200ed5-d705-4c48-b5b2-cdcea07b239e phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:36331550 uuid:50432f42-7f09-4af2-8305-18847ce274ac phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:701b5ea8-2fbb-499b-955e-fc93be086a94 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:31332438 uuid:f1237c71-311b-458a-9422-334bd66026c9 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:c8bfe78d-bb16-4393-bbdf-6d6e70946ee6 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:b507da70-b8c0-4d0a-bae8-737b86a39100 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:21ac9ad7-95b9-4e57-9075-4cc66bcc2fa1 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:0e7bf4a3-f1d7-45a4-b68b-332e8f1157ab phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:5c543880-78c7-480c-8726-b7d7eaf4f419 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:790cb5d9-e2f6-4e67-a480-d6257ca89b5c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fcd3cbd4-7c32-42e6-a5f1-f55f24ee6d82 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:d7a5725e-a0b8-41d0-9483-482be7651d6c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:8c56be1d-984a-4de1-84b9-93ca2e89b59c phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:9e966972-6dfe-4299-bc6a-c8be0b607240 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:0f243820-94b1-49ea-80e5-50eb0df68474 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:a690d5c1-841c-4b20-b97a-ba68c71fa661 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f914d0a7-2c39-4371-9bf4-2654d3c2152e phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:10d35ec5-9d58-4099-8487-62a83091e0c6 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:5bbfed9e-bf3c-47f0-9d50-01d1399dec17 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:1da3185d-94db-4485-b22f-ecba52f5d14b phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ef04829b-1d5e-43e4-a838-db13addb598f phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:dffb457e-e0b6-4a71-a5d0-d24a8c1eaac2 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:31332438 uuid:7fe939c3-4757-4319-9793-a139d35e7710 phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:7191e8fd-c463-41c0-9b62-4b3cb20f4f78 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:876a5729-2bdb-403e-a4c6-38ac256e70ff phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:0ba113b8-da33-46c6-8256-bacdb8291ebe phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:01bff381-cc83-4851-a3cd-ddd09edfb437 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:79266845-713a-47fe-b842-d6b2744a4b7e phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e549fc50-4e23-4a9c-8a64-0dfad8f83678 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:7eb25b37-6ab9-4b12-9571-b912dd972d6e phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:09fad00d-2521-4b08-a221-92d004646d92 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:86ab901f-940a-49f7-8d91-e2bf238c2352 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:63e530d6-3019-464b-ae6f-766234fca940 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:582542fb-7033-4201-b8b8-db1a2b248bfb phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:1a04ba43-b44e-49e2-b287-3f5bb375edac phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:fd83b779-d246-4d6e-9284-78e10193575f phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35150594 uuid:bea61762-c9ff-438f-9dc5-edb26508b1c6 phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:48cddb4d-4885-4d54-86a5-563ba14765b7 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:f6566795-717e-4119-87e3-3ce56a0c5c20 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:56f37d47-f9bb-41da-b337-7d381c7c54c2 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:1354c360-9d83-4b87-8120-80934bb030b5 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:2f8d2cf5-6862-4e28-b919-3f0a453db92c phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:0200ec7c-b2e2-4d87-b51d-5c8ec77449b3 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b0662003-d364-4761-8df3-c13ea3748aff phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:0cd266aa-9df5-4fb8-9e40-8b81b3e3972e phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:c119e582-3016-40b4-a956-1e855b6c6b58 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:ba07a39c-55d4-43ae-9b05-675f58e27596 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:697d4763-d8ad-48e6-9297-9e5f7c560baa phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:f5fb4e8b-c385-41ef-9964-2ff7e14dee50 phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c10e16b7-f647-499c-bf0e-11d876a4212d phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:29050398 uuid:ba3899a8-e16b-4a5e-ab2b-778b26b09eaa phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:ea110f99-9e30-4618-a963-f4a7a38acf0a phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0003376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:31332438 uuid:d9784afb-d96c-4487-b6e3-138927134b92 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:31332438 uuid:7826b9f4-f74d-4b7f-acdf-bc09dadccb12 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:45520367-2fe8-4ff6-a369-3cf67f8c99be phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:9df84e74-fa97-48ea-9f69-1dd98913b9f0 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:1d1f13eb-3563-401e-8e98-3e1ecbc343d5 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:f0bb8c0b-cfa0-4dd1-bcdb-9328e93412e8 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:376f77f2-0d17-476d-8c28-342246e079ef phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:492808df-3246-4475-bc3d-bd0faa87a649 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:a7e27ed0-f2c4-4204-81ff-19cc597473a1 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:1534c8d5-ffb4-4655-b1b3-fc93e6ba867b phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:e0685ce1-4542-49c1-bc47-4a793255bc85 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:05069d66-ec2c-46e0-b67d-542df0ddb671 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:5a157d17-6a44-44a0-9d69-ed2e1d0bda2c phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:65939961-7403-44bb-bf0c-ec4ee2c4d527 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:130de138-72b1-4d02-ae18-f376df954f43 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:7b3c3646-5e71-4060-bd83-ace5abd2827f phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:c02ee959-2e0b-49f1-94ed-ec6869d418bb phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:43af9bb2-d75b-4056-b8fe-a28b27758cf3 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:3c8663b6-ab2a-47a1-9daa-74537a16fe0d phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:60cb58d5-bfcc-4b72-b055-5accef9a7565 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:31332438 uuid:c2a92bd0-2049-4160-a485-2b52f82a4038 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:76971ad0-e587-4452-9553-f542b5d84d5b phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:2d422555-c9c3-4cd3-aa97-0d347ed661fa phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:024dacc6-b5db-403f-ae8b-6f2fc7abdb8f phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b8322cc4-47c1-412f-af1e-9064a89c1868 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:73d3de89-0015-4019-bb25-a10867d6e86d phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:afea6c27-c316-4f30-a1e0-7f824a9d1bb3 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:e7b1541f-6567-4778-bcff-0a0cc8f6af18 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:9fab0ba0-c79f-4041-90d1-72e1e1204d23 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c30ed803-f363-4bb4-b3c6-6616e570702d phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0007366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:3425efdc-364e-4404-8cdc-097c8f49d5be phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:83a9e7b0-673d-41a8-9a59-acb9fed5c19b phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:61a688f7-3ce7-4412-86d1-1b6499e49dc8 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:b491ff10-f6a2-4b45-b33f-b61d03ec8590 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:4ea35edb-0b91-464f-aed1-6d4b8cf71fae phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:c5c38842-4019-4328-9a6e-c9affd3c2c7b phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:55a0114c-b207-4b1e-a685-7578aa05063a phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d0ee3b94-d220-4e91-93d0-6cb57d8d62bd phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:75531981-984e-4867-bc86-de68553dc03c phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:f8f11099-b973-48ad-9b5c-8738415f497b phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:719cedeb-c9b8-448d-9bc4-5096c82855a0 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:45e70c21-cb73-4552-b266-a02e3e3ab5cf phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d5f6e519-7967-4caa-bc39-0306f0917f9a phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:16e2acf0-939f-4c7d-8d53-fd9187bb0f71 phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:29050398 uuid:e500f4f1-bdf6-4aa0-97c8-f55a2bb00e2f phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:609227bc-807e-4539-89d0-19431adc3918 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:7a53235c-1ab1-40b7-8f91-369e96606d8b phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:0d1786fe-ea9f-45bd-ae69-6cafe7f774e7 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:5411841e-27b9-4e4b-9be6-45964b4adfff phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:2b65505a-f48f-4fb3-a32f-2f142c63e5c3 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:3a8a1480-b95e-41e3-b775-e705d1263510 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:bb9d42c2-769f-4502-af72-81c8b9040660 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c896365f-b9dc-4c82-8db2-4eee082fba09 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3dd2a417-b041-49fa-80b7-285a2ae9ba58 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:c678ed29-a99f-4575-90e0-977c8c7f639b phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d4dde488-51ac-4ab9-a291-a5061b0de6fe phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:e13f3b23-0534-46d3-85c0-25600b804755 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:dabe7549-4446-4ebd-84b2-f67f1da80482 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:bbf003eb-878c-44bf-929b-cf127485f12c phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35150594 uuid:33e8c605-63c4-4475-a35b-9a8cac2beb37 phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:fe600215-173a-43dd-a14e-7b9db1bdeac2 phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:36331550 uuid:d55f3bd4-f528-4cfc-be91-9d63c6e4bf77 phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:b404e3d7-bb46-42c7-bd4d-bb1b0df15861 phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:2d84b649-8bff-4973-954e-a9e3739b1958 phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6c1a7988-a611-4ffb-86dc-ea6d9d7892ae phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:f9bd06a8-10cb-4549-af72-302141d1f429 phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2b994c1c-f6d0-4750-8a87-7036d6a6717d phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:37f26abb-c5ba-4640-bed0-62b8842827ce phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:36331550 uuid:30eb8a2c-d286-4f58-a7a9-52cdf1b4ed8b phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:6422352a-79b0-49f0-93f6-08728aa4cac5 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:1e7127d2-d68f-4ecf-a81d-1d274c39de7c phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:9bd1a2ec-6356-4308-8ac4-a49a6b7e493d phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:39337aea-c7cf-4ac8-8809-63b18b960615 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:3b01cfbb-ceb1-48c9-869a-a5d55af9f7d0 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:9d637ca8-a7ee-4f65-b010-a56e43ca5010 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ebe279ce-0d5a-4e37-b53f-13242227606e phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ca5a519d-f4d9-4db8-badd-ffa347fa8b42 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6aa3bbde-c3d3-46b7-8707-4c8b558e239f phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:70797de2-7a4f-4b15-8e36-1a75838fcbb4 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:4cde1a56-54c8-41db-8565-797b7d34732c phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:0834199a-aa96-4965-8296-27c56391fef2 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:279c2e65-0001-42da-ac9b-9b0c28e4e2ff phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:35150594 uuid:d308b8d9-9e3a-4ab7-88c4-ed46ae517588 phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:f3065b5d-caa4-42ad-8b79-76b9cd3d927a phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:31332438 uuid:837035df-a08d-4ed8-beeb-98c2d21963e2 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:36bf88f5-8294-4ee2-a8e4-f18dab06da82 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0002600 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:57d17b59-6f64-4cb7-828f-0039b86b9ced phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:5c2bfcc7-d4d8-45c0-8ec2-a524690d3df3 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0003376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:64e01b45-6b62-46be-a584-9d768b2b5848 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31332438 uuid:71c47bca-8475-4ac5-bb87-60df8477efa8 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0009129 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:218dc846-1e24-40a1-b1e3-23ef56c7bd21 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0007210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:53141639-278e-495e-842d-6b6c00770274 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:81fa4fdb-7fa9-411b-a40c-68e980f0af2d phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:16ff4c82-e109-47da-8c1f-6de4f28202e8 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0034397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fde4cc9b-2dee-4b69-af27-f51b26d40776 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:f2d17613-38d3-4209-8852-46e443c5907a phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0002522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:ef89a75b-d850-4a71-b27a-9a63a090bce7 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0012391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:082cc199-06fa-4825-9a90-0b1077b22c78 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:70b1072a-2dac-4c21-86a7-654d44533c99 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0033748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:fcec3f1b-b9ee-4059-8dc2-ca2e3fe50727 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:25209919-4f25-464e-8e54-dd48c9d72926 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0003484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:9cc09ca6-2da4-4b40-b7a0-619e370ac3cf phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:17e797b4-e789-49b3-aec8-95f9fae51e66 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_phenotype HP:0001771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31332438 uuid:4306e409-4699-40bf-85e1-c7f30a3194d6 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:31332438 uuid:66e9e1df-5e72-46e1-8b8e-42a207931d90 phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31332438 uuid:7637a66e-4b4b-4ade-8283-6750f80b1cc2 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:d8e3e8ea-cf86-42fb-988f-e9db0d10c854 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:c93b7800-ed3c-44d4-9a09-fb5ef449fa11 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:18d3efb4-ab8d-41dc-9018-a2784706f85c phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:77140bba-2b6d-4c34-a0aa-b22f45a6db01 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:fd1f2fdc-be98-4f3c-8897-a4107be8b10b phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:9f8c6a48-a631-4442-998d-23b31497bc40 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:ce8de834-2d7c-41a8-b721-23e0d3b070f1 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:27b2a001-53bb-448c-9222-83a7f36291f5 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:fcf06b23-47f0-446b-98b7-5c36c9f468e8 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:369d8daa-2222-46f7-ab4b-e377a46cd4f7 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6294fde2-2d42-4d5e-a551-06eb3911b875 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:bafebb3d-3646-43c8-bab0-154a738fccff phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:c38aed0d-a424-4657-9420-704596733660 phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:b4f01dac-4ca6-4231-9ba7-3f5d79872e5a phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:08f3fd04-b4e2-4fa3-b95f-41432e9b6569 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:3844fdf4-2588-41fc-a358-35fb69ef9b48 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6c16f6db-41bd-430b-bbb0-8ccd6e585605 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2b3b4b77-33f4-4fb6-be7a-b24bd24c2969 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6811c538-09d5-4801-96b7-e37529eba97c phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:6285370b-0df1-49ce-82fa-271ad95f8bb3 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:fe1beb01-204d-4208-bfd3-e5696c0980b2 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5f353230-97d5-4c7a-816a-a30733b7d43a phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c160aa85-3359-4dec-ab3a-5635f2085f5c phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5945d875-35bb-4aa5-8002-228e4dc6c258 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:dfdc30ac-2870-478b-a078-2fbeb3a0f858 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:183a4662-f903-4c77-b4bd-9e5ff4491d89 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:afe2472f-5a52-4202-a0cf-94a2c68e2ab5 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:fea08b88-cc40-4ac1-be17-17cf059993b5 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:64e63368-511c-4c61-814e-4c4af0a7a807 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:471a6df8-363b-4b22-ab6e-0d195f32b0c0 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:e1ac1858-bf62-4a57-b305-664e2ffff85d phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7654e9f8-939e-4e80-b11f-5bae6d437eae phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:748f2be8-75af-4ba6-b3b8-daf8cc6d6f54 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:36331550 uuid:b591ece8-d0df-451e-a686-2e3937d0b484 phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:f9606524-1f93-47a4-8ad3-0d18671ac793 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:16d07605-578f-473d-8757-8f51b2bc7b8c phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:a5fd0a69-ad46-41b1-ba45-e2e6fcfbf561 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:efd0e69c-cbf3-4143-b466-a0a52d957792 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:41fc5666-ef81-41fc-85e3-81f96db7f624 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:20cbb8ba-1c21-49c2-b3b9-28c2798e744c phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:d7d142c8-8ea1-4e1c-852d-47fa16e354ab phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:d314d9d3-3177-4404-99b1-aa89fc6628dd phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:6cc8d07e-ff2b-42a8-8c94-77759318c69f phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:1879493d-098b-48f0-ad42-9488f64af953 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:9008307e-8310-4c4e-a862-e2a4a522fc02 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b79a9f91-3894-4652-b4c5-90a69c34adf7 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:29c185ee-c69e-4cb2-91b9-3b58482f46a0 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:35150594 uuid:9e145e7a-3b3d-4d0c-9e1a-dae031dabc51 phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:25f503f0-ac12-4851-afde-fa2246dc7a8b phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:33578420 uuid:3f42081e-6667-4c8d-b6b5-d4cc499467a9 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0008944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:33578420 uuid:a7b73781-3f77-4a64-b608-95e5a34128ec phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:6405d6ef-8ac7-4234-b63e-e2acc890281d phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:4fa04a56-2bd0-4216-81ef-493fb52b32ab phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0034337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:e788cf7f-b279-42da-8eeb-949d282d6e43 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0012046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:7d6f2c44-1af2-41b8-916b-200d24372b7d phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0007083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:19dec739-9402-482d-a285-e36591269f95 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:ec9c36c2-4798-4479-a7ef-fba15028bdd4 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:33578420 uuid:2251d93f-ceca-42a2-8ea6-c9bac03d7f84 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33578420 uuid:dec15705-57b4-4cdb-b3cf-23b9098a6bd6 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33578420 uuid:fce5fcb1-3404-4a39-8d04-62f28b0a56a5 phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_disease OMIM:620528 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:33578420 uuid:86e7a2b4-0f33-4217-b4e3-fca8c3ef9b5f phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33578420 uuid:9baf0ff0-c05a-44cb-b60a-1aa669e19b89 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b4cc731d-6254-4324-ad60-2454c6790fe8 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b4f3c85a-355e-45be-9359-459db6fdc4ff phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:ed5ecb9f-8c14-4f5a-b3ee-57a467b70833 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:7b4002a3-7f9b-47b7-8dd5-91ca9c53a841 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:a6b328e5-441f-4655-b7b6-c605dab04d83 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:93003900-80b4-4b75-90ac-f0f74e2bac37 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b2d21fc5-55ca-4049-b6ad-8e357b5dc705 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:a07a00a6-febf-4651-b24b-171a01dd5c5b phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:978660c5-accf-496c-9578-ad02b1ba875c phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:6dcaada2-46be-468b-8a56-88226229ac54 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:32c13e12-02b2-4b36-a359-2b705570d660 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:d0ff776a-8ce6-4a7a-9824-b69ab380e784 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:29050398 uuid:861f55ac-95cb-4b06-be65-33ed94f85cf1 phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:63bd0abd-18f9-4423-a100-5e0899d5779b phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:9af8751c-6790-4b3b-8092-ee3f4cd66dee phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:23f28fda-6503-43c0-9dd0-b83ef942b6b5 phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3563f58c-4013-4d6a-a52c-20312b5f356e phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:7d17ea61-4859-48c9-80de-e9a6ce2b49e0 phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:3cb9f2fe-53c6-418c-9339-180ab0d4e8d5 phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:b7de1d07-e55e-4d09-ada8-7f6b1ec90e30 phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29050398 uuid:0e32c9c2-43d6-4b44-a489-a79129bf6abd phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:1b61789f-41f1-4891-bb24-cb058856c453 phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:35272a1d-b1d2-4495-9145-c774832f5f99 phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:bc25a402-cd6f-42c4-be3b-a5ba7bb01ffe phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29050398 uuid:eac4bc94-ee9f-4657-96ba-1c824a27678f phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_disease OMIM:613477 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:29050398 uuid:48f49394-f9e6-4286-9cc7-cebdd1c7183d phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29050398 uuid:855f600f-3dd1-4685-b8fb-ad3c3ac59a3d phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:e1b267c2-3e47-45a0-82f5-69c116de8c1c phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:25d7cc67-b1f8-4285-90fa-4b9c0d571aab phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36331550 uuid:6cbc68b5-227c-4655-8506-8af24e3f9cab phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:d3ae8bcc-b16c-4847-8575-58511cde03d0 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:cef89eb7-129e-4c26-ac3d-21925687e9f6 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:5bbeb9a3-4f08-43fe-aa51-8587b68a8ceb phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:77c5f990-dff8-4f29-9ecb-2568c05199ec phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:53e4d944-fe26-41cb-a786-673ee8d9779a phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:2ecb10c0-b988-46c7-99c7-0c66b215ffd8 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7084bcf4-dc2c-4861-8640-922e0894cdb8 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:eb81b808-05cf-4a91-9851-bda10f641aeb phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:da231f00-9a3d-41a0-aa1c-3ba392a77d48 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:96954f68-7018-49e5-b745-518ab5dabdd1 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:223daf24-17a6-4dcb-8261-fd58e1b53d85 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:f907ce0c-a4f7-46ad-9b16-1b9b126f4144 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8c6406fd-41cc-4b06-8764-97f5086e1ee1 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:b08e35ca-a608-4272-b7b9-6950bb3270bb phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:7840f57d-92f4-4d80-8f32-1a643fbaef1e phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:8586f4c8-4e8a-4e5a-bdf2-78a38d4a885d phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36331550 uuid:c813ccb2-be8d-466d-8762-d180d63617b9 phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_disease OMIM:620540 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36331550 uuid:2c04f326-006c-4dba-94fd-de3083f95bae phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36331550 uuid:5984742f-8111-414d-85a1-fa76d930cc8f phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:3f209cc3-0c5b-4829-a343-551cd3bac0f5 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:44c26e76-242b-4845-bd16-191ba151bee6 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:d9ededab-df62-4617-93a0-bb00fc116380 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35150594 uuid:0599e506-3a91-4857-8cee-96d147df9896 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:98520f6f-6bed-4911-9eec-89806f04f162 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:b940ce5d-589b-4cee-8601-c77e0e4b2bde phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:4447889d-6527-4efc-bcc3-50880bab0cd9 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:967f312d-8459-49cf-8a64-343e453db6b6 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:8b21b6d9-2c98-43f4-9299-febd224fcdbc phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:658ee837-8c1b-4cf3-bd45-d4bb0d3e3604 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0008994 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:8e80db6c-030a-443d-a44b-96b7d3a083a8 phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35150594 uuid:f8d1acbb-b96a-4a4c-bafe-871cbaa9624e phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_disease OMIM:620538 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:35150594 uuid:79a2e67f-027d-47fb-aca7-b1896c86f94c phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:has_gene HGNC:11273 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35150594 uuid:4655f7fe-f883-4e7d-b5a8-1e60b923e5e6 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:92dbe2da-cd34-4e85-bbdb-18a1af34eb15 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:0f4536e2-d77d-4ba6-8f65-3a69c93a54ff phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:0b39d3db-a3c8-4e80-ab7d-1d189a99b93d phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:cadfd31b-0884-4b4e-b670-16dbd6274735 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:d7beb960-4cdd-4164-a19e-ba0bae3b0c12 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:ecbdfddd-10a1-45af-9f38-f6376bbf2ebd phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:8b24ca8e-883c-46c4-9aa5-2dd374a169af phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:b19bc85d-30b2-4357-9afd-cd048e794e36 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:77f686b1-3990-478d-8950-7f20e69c2150 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:5236bdf0-44b5-40c9-8715-df222258afe7 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:d9cd6cdd-23b8-431d-ae55-9e5a071b3e15 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:296c6dd0-e7dd-4cef-8460-eb2bd932d500 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:b600290e-8ee6-43d8-b729-701ad6ae7680 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:c8ced905-0faa-41cc-b471-4736e6d987cf phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:8b485641-ee60-48a3-a203-f79c79acf8f1 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:761f98a9-8c25-4fea-a5b7-b2b9761ffbd2 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:4296575a-e3de-422f-8a34-e484ec6969b1 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:77fd7485-54e5-4b25-98c2-47d6e757462d phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_disease OMIM:620417 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36718090 uuid:55b2f3ed-11fe-46f1-acb6-838dda150562 phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:has_gene HGNC:20361 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36718090 uuid:b6383cd2-811e-451c-8ff6-e5b44f214f5f phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:c9409307-2167-4f3c-949f-311f74280e13 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:f36c642c-3813-4308-8ddd-5d0212553a94 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:b8b02083-1b2d-4dee-b84f-ece07a7598e8 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:45d47f71-f94a-4902-ad46-40c0b7aded03 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:ca5ec9c9-b60d-4aa2-810d-ac2abcadec65 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:c2ea99a5-7e11-41ae-91f4-a0cd1a0a28f7 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:54e8335f-fe81-4cc3-b5ad-bdefa988ae31 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:b6b41ffe-16ff-4515-b69b-d90c8ad0f387 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:31863561-2e4b-41b4-96c0-01ca687c2cdd phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:21615777-628d-4635-80e0-5011fe98c296 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:aceb4211-c65f-4ce5-a7eb-3d7380c53747 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:ad732eae-d603-41c3-b7f2-e6e1cbd434ea phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0001052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:7985c29c-1754-41c8-bf79-6994386c4c14 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:8f0ad946-a497-40c2-a72b-7e49b899ae01 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:adbae8e6-4ddc-4e14-9ee9-36b31aa64918 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:cc4c7016-de9c-4885-8da9-2ee410acf0ee phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:e175322d-9291-4cdc-b368-68aa7f977adc phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:ad0a37be-1cfb-4f65-9c8f-b215be86e68e phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_disease OMIM:620416 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36718090 uuid:d54753e2-c2b0-42a7-8e0d-edf49c3e9760 phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:has_gene HGNC:20361 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36718090 uuid:201e10c4-3a91-4197-892f-88081f01b26d phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:64c44db6-5a73-496d-9173-5c911070b3e2 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:0c99f41a-2fd2-4718-98fa-2348842cb45c phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:d07c42fe-c287-4b95-824f-f0336c60d9a8 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:0dae08a6-b21a-401d-8d6b-e31128033c88 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:98f46eaf-72d1-4b5b-baa9-5c2721de5dab phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:ef0aa9be-9b2d-41f8-8ff1-d4b11af7b92b phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:a9135625-8169-480a-ac8a-b006dc4e08c1 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0002064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:7afaaf46-73ad-4160-9d25-51f025603445 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:5c11cbf0-8b16-4eed-afc8-df1fcfca8b57 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0002144 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:7332d5fd-a494-4797-97e1-cffc3cb7fc81 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:34224910-a7da-4824-85a3-84b31f5ab3a7 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0001052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36718090 uuid:b9a8cd70-83b0-4b08-8270-733639f591f8 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:e5c34d30-88d9-40d7-b425-6e7de3dbf9f2 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:d2f74a1c-52f3-46e0-9e5c-6d969f9774bf phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:fb923292-bca2-4069-bf6e-0740dafd5e99 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:d5bb8206-8605-414f-9134-ce9eb7fb52ad phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:00c08b0a-15f2-43e1-8b0c-582245b3a8c6 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:bf28d0b7-c57d-4646-adec-0c503eb344e0 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36718090 uuid:841ccaec-0c0c-465d-a6c0-6ad666053f9e phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_disease OMIM:620416 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36718090 uuid:bb9a99f8-312d-4c70-b34d-8510c4f40f99 phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:has_gene HGNC:20361 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36718090 uuid:f5b2f6b4-f30e-4d57-8ebf-d7c2b8cff6f7 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:513ab066-76e1-4816-8cf2-f707e3c63928 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:a8432cbb-7fbe-49db-bf3b-b9c432670852 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:6f56771e-a631-42c7-b1ce-7ad882a37468 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:14a881a4-a424-4a98-bf22-137e249bf6f4 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:42047cb9-55a4-4dd9-8490-4c6903bb63c8 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:dd6a513e-b3c7-4ec3-8a76-b97fbd95d387 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:ed3c6fed-54e1-4049-83f1-6f4511934af0 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:25abf80e-d277-489f-a699-46a39b7f6b66 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:6f42603d-fa4f-4521-9532-5ff7d3003ed7 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:4927d238-47b5-4b7d-9647-2c7d7065562b phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:03effb88-d2f1-45ca-a884-39399d529239 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:283711b9-3dec-4cd9-b459-18b751368918 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:c840aa76-8a37-40a9-a241-2b7ef5144740 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:f380525c-c297-443b-8047-04d803a9cb26 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:e8c11b3a-192f-4b53-b0fc-f640f879c5f7 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:36223882-d01d-4a56-b7cf-947082e7d498 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:80e2ee96-a4f8-4e92-947f-e4a49ac238d1 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:7b9c0898-3ddd-485e-b335-a096c7b21628 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:d6e5b16b-1ddd-41b7-8c79-ad8d99fe4f28 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:42609b9d-9c30-4973-a063-b0f7c6202eee phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:a7847f78-ac38-4334-a3a1-b46aa9fee6e8 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:9e693c1e-3f5c-45b7-a914-9c7ee2f26151 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:bf4aebfa-273e-4412-9848-d2cab34c4d5a phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:78c6c2b7-8466-4d32-bf1b-c703f76530e0 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:67f1e504-5865-4e81-af56-9bb8e8703739 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:ef1d4422-8b5b-4cca-9722-0a4f0417093f phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:d3d3ef85-36ab-48e9-90fe-d8c8f537c143 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:44fdeebc-0779-4a5c-a5ee-2f67e1777d0e phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:ad798398-a116-498b-bf20-1c162677d562 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:87a53660-fb6d-4e8f-a4bd-e387c0cff0a9 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:fa3051a0-a26f-42a9-99be-87359d80529c phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:2b93729d-180e-4c84-802b-1877a60ff6b1 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:673b4520-e1d2-4cb6-8a79-c44c553c09a1 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:3414e429-598b-42e0-81ba-bc2b98ddaae6 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:6741c150-5514-4575-bc83-cf2c7fd73665 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:fe65bb92-0572-4617-83ee-3f4740b3b391 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:695de08b-b6e6-43e0-b72a-660860e2e1eb phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:27aaa00a-e5c1-4f39-92bc-672e5e076e4c phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:66fb367c-0a22-4817-93e1-cfeba14b47b2 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:7f966473-02fe-4547-bc37-8ffb084dd8ee phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:6e3b3be9-c59e-4214-96b3-f568edc9dff4 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:a7c79f8f-5a45-496b-bffe-d8accf0e0e71 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:3e9eb160-a6eb-4118-92be-3c630c85eb8e phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:48b10343-6a68-458c-9a99-fd9d7e484109 phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:39073169 uuid:684ab966-89b5-4646-ae92-92007249b8ee phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:2b9373de-d2df-4d36-b248-a9c635b8f6cd phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:76a93af9-b797-435a-a484-63a54a98ec64 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:3b6f27ec-e5aa-4a1e-be93-8325a11f15b1 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:4b64ed37-62b6-4e5d-b526-0ceba3017106 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:1330ed7d-5dda-49e3-889e-008df69013c7 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:997b89fd-abc8-43a5-9672-e4f637108c39 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:072f9ac3-7b40-459d-a4ea-39b08e0d6dc5 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:e0b7ca04-d179-4218-93e3-7ca005fc6b00 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:cadff3cf-e8ab-472f-8215-48c0b125bba1 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:d2e47dfc-3ad2-4e70-81cd-2ed148c25050 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:34089a01-a9bf-45bf-ac25-f2792b012e96 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:a6485ec9-f250-4ab2-a354-b8c5447e90d6 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:4b8d6e71-0e20-4f56-bf6a-dcd405a6b227 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:95b219c0-22ef-4b8b-9710-0d89b74edcf7 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:417fe937-e8d2-47ff-963e-a4ae2f9077f7 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:39073169 uuid:7daa9b74-d2c1-46a8-b257-fa8dc9263b28 phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:cee09976-6839-4574-8c08-ec54c2a6b6cc phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:b96014ab-8067-41d4-bdb0-43b6a7e97b13 phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:86aed709-2336-47f3-b466-3e04985ff213 phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:1dfa5a9e-7c52-48da-b84e-4c5504c2c225 phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:f1fc4ba7-6b44-4502-a389-e15ea51c2245 phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:452aa53d-4aa1-4ceb-8973-9c3437762867 phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:02f59fa2-ecc2-4bbd-98bb-687e060243b1 phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:067096ce-e92b-4e3c-be28-d575ca666d57 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:d8ab047d-360a-4624-8a28-4e89b9861e78 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0002321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:67b13180-4b19-4b9d-aebe-4ed6d0b80b42 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:fa86a21a-a45d-474c-ac95-49c3dbb43331 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:3511552e-cd0a-482b-b897-5aa66c0896b2 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:4352b5a4-f246-439c-9fdc-5c4d699b27d5 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:c4e3dafd-8abe-4de9-8b9d-ba6eb378b974 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:aabafade-cf60-4153-9cff-a57e7928367c phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:7c364d51-2b84-4753-8b38-59d0a8384fa2 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:ce5d1f6d-7471-4838-b1c2-9c601c78b9fd phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:d890ad7d-9796-4930-b749-c1329d2a0561 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:309e3a95-9a0a-4d57-a0ef-c4dd186510ef phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:7ddd43f0-eb99-4e25-a7f9-33d8a13ed2b6 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:1912a801-f07e-4522-8556-88719066b264 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:84e02e0e-1ea0-4105-b4d2-20497e9483c5 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:8abaa8f9-ac88-4416-abfb-19cb83f89282 phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:f27b1d93-cc0a-4194-a514-db905cc5255a phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:4063e23d-34ee-48c1-afa9-a915cc0dbdba phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:5a2581d8-424c-40ee-8fc8-2954a206f9d1 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:2d05efd5-ead7-439a-bbd4-40e7cc2c6694 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:450cf3e4-cb03-4bc6-a7a8-68934cc5572e phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:6c58fb83-769a-4bac-84f9-880dcd93efaa phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:ae167976-8af4-4b6d-96c8-fb0afa0d4ec9 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:3730b059-7272-44c0-8a3b-24ee73283041 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:5135c8b0-08f8-4103-bc23-8f5817381be0 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:b9ae594f-2a16-4bf7-b9d6-e96a220e1cbf phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:c6f26356-a94b-474c-83dc-69ae09bd9a16 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:492e6b02-9ab6-4dd6-9341-c825c69d7390 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:06e900b1-5df2-4b4f-959d-a016fb8a16ab phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:9affbbaf-cc9a-4042-b741-f4edb8c29322 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:0d2b38eb-62b8-4f54-b85d-149c8d5cb055 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:4100961d-6a10-4021-b4eb-93f269b05d2f phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:bf4ad8ce-1512-4842-bc05-019cd9dda4e9 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:6c85fae8-0f82-4f08-b354-cdf4f8ad9021 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:8976e0ce-51c4-4093-bc41-4aa653dc4796 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:b0b57c85-e7e3-4743-a07f-ec7b68b64f71 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:c6ec193a-ed35-4a0e-a113-3e4d63121c71 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:d8a1882c-103b-4301-ae8c-10c0f459429f phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:06023492-5a88-4371-8ed6-35606c6f873c phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:7b867293-1e84-4c9c-b213-d20166fe17f0 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:6778d389-d2b0-47d0-8a1f-b7dd40867ed9 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:983ce27d-17d2-4461-8988-880e54b6f512 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:9c087094-f728-4b9f-9a1d-d2816bb6a1c4 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:766167ce-84d2-41f2-b07f-f2ad51cfec37 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:91a03fa8-2445-4324-8f04-0831d8c6a68c phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:49a5088f-cb85-45bf-b2b7-38125d5f7f53 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:8f0fa361-1087-4793-ba6f-d0940e54d792 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:23d1a031-a671-4dd4-840d-d935f3e26c14 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:db0d9838-0948-452e-9af7-9c89f2c7642e phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:b6af16f3-883a-4b70-bd13-bacecde6b912 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:b4a0d387-8e0e-4f6e-baf9-ff2e8009ec11 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:e951aa9f-3955-4b7d-a1b7-ce31e67366e8 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:bb196cc9-146d-4954-91c9-66a885632728 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0030048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:8cd34988-8626-456d-b208-20eef88df4a4 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:2f2edf76-5a83-41b2-b485-8b8a608cdb6d phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:91bac4e3-ec29-40ef-bcb5-4db28b62364f phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:0aeae9a5-4202-43a0-8264-6a2816315358 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:e5008499-15dc-4946-a232-67bf7c3b99ee phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:017b1de4-081f-4370-aedf-e648a90ed205 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:a9d6c0bd-c8e2-4d75-be1a-966e37392762 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:2bec495b-3679-4bf6-95d5-2b0677a64f58 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:9785b58e-625a-4b32-8159-cca73606a151 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:6b1d876b-a32a-4d2a-93b6-fd82b0139312 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:40eda508-e668-4266-9d1b-7c73f01aaca7 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:d1eeb929-45dc-4677-b9ac-9478c8734172 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:f9a4ed2d-0ccc-47a3-8c7f-fe98e2bd5a8b phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:8091b5ae-c270-43f6-adfc-0a2cc04fe121 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:89549435-b5b1-4074-a72d-2a92e4e6a466 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:67a41520-0753-477f-8456-e02f8cde296c phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:755a7566-6094-4815-aeb3-dfdcbeb136ad phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:a4932118-cf80-456a-8623-4f67fa4bee82 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:2ba1ed70-23fe-4e7f-9b6a-ad795e07d24b phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:e1a0328b-378b-4001-af0a-793d720764ce phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39073169 uuid:dcb8fc10-952d-4010-8abb-0274bc92c2a7 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:2fa78ffc-b866-423d-a0c9-e7966f3d627c phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:35eae468-2b7d-46f7-9466-032b3114e2cf phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:ed9ff95b-e206-4914-a7c5-53cbea6fa717 phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39073169 uuid:d6d3a990-32ae-4068-80b3-cdd98a6cdb6e phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_disease OMIM:301134 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:74c9eac0-ca7a-4580-8c36-24f5518dbdac phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:has_gene HGNC:11402 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39073169 uuid:86ff481c-1d21-474f-afa3-371d034e3825 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6f614315-bf35-4d12-9441-0fba957a0b79 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:45ca4ec5-4e0d-44d6-ac42-3126b7f30b7a phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:5200232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:35cde779-fbfa-46ea-9344-1c98d55e5eca phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:eff09644-e73b-47ac-98d2-3e06d26a9b06 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fb916980-ad41-43c6-8a55-e8c3dac4b1b7 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c844b938-6b6f-476b-a639-805f33ea7c91 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:76869754-809f-4e83-a8c4-420edac3f51d phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:926461b2-859a-4797-a1a1-7f35d0e8b0a2 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:eb1a7683-cd37-4ab8-b161-cab16b594d12 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:f8eb453c-b51c-4c61-a589-faf62f32ecac phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d822df9e-f21c-4953-bb69-ca044c7f6bfa phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:23650f9c-29a8-4793-845f-f6b42636c04e phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0008730 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d891061d-16c4-4d87-8e1c-5d264fc9c600 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:77db7410-add1-42cf-8f8b-fe3e0e42c9c0 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0fd0edfb-c784-4eb2-a04e-acc5548f1ffb phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:75114997-4207-463f-b21c-556fd73416e4 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4172b023-bced-4b7a-84a6-978c58d88b84 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9f227dd0-068a-42d8-9dba-db8c8030eb6e phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:47892da8-d0b8-4564-bef7-bf4a4a1c8902 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9469bd3d-5b36-4afc-96cb-2f521254c725 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7df4f44c-e83b-4144-a547-b49d12cb2778 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:80174f57-42fa-4894-81fa-cb4726646e3d phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:cf54662a-7f53-47d8-ab1f-7437a3eb9bdd phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:dc1fcd39-c257-435d-b26d-1ec096325d66 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:3969e8d4-0045-4f56-9967-807dff2d12db phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:b5a6ab98-7030-4571-9185-ecca4c293d08 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:abb8242d-58b0-4212-bf68-3a2adeb0ef7b phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:6e7ff110-595d-48ac-8852-b73e27ad6b69 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:13d1d01a-52fe-4759-a056-89df7ab49a3e phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:a8d90f05-46ee-4823-ac34-c537c03f8d68 phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:406e4878-e1ec-4496-b507-269dcb05b256 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4b4267be-affb-4139-a4ab-5548d67f311d phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fd012910-08ba-4594-a23b-42760e955a29 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6f20dbae-2eb2-4394-acb9-e0d2d5574fd5 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0003561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9611e469-7e61-4ddf-ad28-5fa15d29c7d6 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a5dac5bc-96a8-498b-8c3e-39a2fe9df423 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:03b5ca26-ff81-4c67-bd23-b16e85222df6 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7d49c1bb-5039-4a4b-8fae-2dc824c1f2b9 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d50a76a2-6812-4ee0-b746-ce08c4eadf37 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:90e5e753-5111-4e17-b5b3-98f310ff115e phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2a8491bd-e01f-4550-a9b2-70dff0ebdc60 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e9acfc79-01a4-4366-bd3d-63ab4422c18e phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:5200261 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9b3c2c7a-ebbc-49d5-bd50-0bd8109ca3a8 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9e509906-c3ae-406f-b8dd-e376e591bf75 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0b790728-fb3f-4bc1-b0b6-05c74f410b0f phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:19f14ec1-e5e9-45c4-9a5e-91f2ed70b384 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5623e7b9-0062-4f23-9382-2cc1a110d420 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:eb4c4d02-e535-43f7-8bcf-e609f46384e4 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0fb97334-5697-4d83-9fea-1e9296d2d314 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:ae423439-e231-4228-87d4-540cfee0686f phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0dbc284c-7897-40b7-b0fb-af0e99423b88 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2b778aca-c7ea-4ea7-aae7-191179581aa0 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:344e18b9-a0a7-4847-9f10-9728e27756fb phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8c8ddb17-62a2-4fb2-ba63-16b9a5708950 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:667dccb8-c1ca-43f7-ad37-7127aa3ead1c phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:39c4970c-1eac-49f5-a372-cba7893fca5f phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:c9b62668-f8c3-42e6-a164-af1ee72615e4 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:fb9695be-2833-4f18-87ba-cb079187b64d phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:0f218db9-a8a0-4a18-8044-280bfbd5db46 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:77a05c8d-b372-4fd2-8360-c9a2e8519685 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:49ad188e-6d77-4089-b6b6-fb321eb586d3 phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:1cb7125a-b58f-4228-b5b7-9c76b59eea6c phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:398227f9-0aed-4b95-b9c2-35283492894d phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d3f613c2-b6a4-45c7-abea-382cb41ba663 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d83b8975-f206-40ad-ae21-1525fdbe7a53 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:15c19038-b939-47ef-b8c5-7e2722b15d1a phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e5e3aba2-ec5c-4464-911d-c6ff38994633 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0008542 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a6cb2d87-46ac-4ca5-aa0a-fca300d71220 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:197ccc30-49da-454a-b6e9-aab1d7c66aac phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0008689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:300e0814-7e9d-456f-8841-37cc99bcb6e3 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:11bc0bc4-5cfa-4d08-8a2f-619940eb0404 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:1e330e45-3bc5-4053-b419-53fa2570fe27 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:18ab522e-09f0-4878-a413-7de626f1aa70 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0008417 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fdaaede4-06eb-4b0e-b094-8bc845e3b1c6 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:5200046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:96421470-69d2-4e75-8fdb-b59b5f07f564 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d084c390-2698-46f2-9e9d-6a311d589e6f phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c684cc76-05b3-4c61-9ad8-b2d58fb01878 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4c0c92ec-adba-47b7-87d6-a305dd30288f phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0025116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fc7c38d6-58a3-4bb0-adf9-e79b0a49f494 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:eb032359-4884-456d-9ad1-ad2785e87505 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fdfa727a-e37b-48bf-8900-759fe9aa30c1 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0009088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c61efddf-61a8-4cc4-8546-573a9ad1cb24 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:84a22350-06ae-4dde-8fd9-b9d470467ce5 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:cb4e7a2b-829f-4149-a64d-c50bbe05bad0 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0031251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:de9987d3-6c73-4626-a343-1a630c0bf4b7 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:5c0be4a6-12f3-4b82-89a5-6e87f39a7a1b phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:ba0ebdc8-8dad-46a4-8ef4-a0e7cda61bde phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:1e5f71c2-760a-460d-84e6-e861df9c56c3 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:0caa991d-230a-4666-8b9a-700ecd4faaa8 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:c02d361a-5866-4aca-8c6e-e6818d5df919 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:efd89e1a-8621-4fb1-8157-ed8ab94089a9 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:21ee4a02-b035-4029-ad62-f37120e151e0 phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:af5bb53d-0eb8-4eee-9bff-33159571596a phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:64283793-e84f-4ebb-b94f-20dbd3bdcccb phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:33dcfc61-081c-449d-9d10-d3778894cef9 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:65f35b3f-0dd2-4ed4-aaac-489dc3b1a624 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0bf08755-4f15-4ac2-9b18-a8479aa29c2b phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0005216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:8a4c1445-49c1-46a2-9c19-39f7749ffc84 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:98250d50-4d3b-45b4-aab3-dd526dfa2911 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c6c27534-97eb-4eba-afcf-1c3b8c542030 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9f753bbd-da3b-44d9-9fac-e9d5c42f099d phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:392203cb-7865-40b8-b5a5-f857522d4ec9 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9e626efa-35c4-4d41-85b8-503817dd83c1 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0001555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:1741a280-589c-492b-a32c-f1ea05a41d16 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:76d7c0aa-f62f-4d08-9d0a-239b76aaf4bc phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9d395a0d-a8d6-4d56-ab85-4cfbbbe40bc2 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:cbfbfdb1-a6a1-4c4e-bcc8-4c5fbb62e8c5 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:1182f332-3d97-49bd-b8ae-65881b7b72df phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4b93547b-4842-438f-bba2-781e37d2896c phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:69dc2789-62de-4448-a535-ddedcf71d587 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:b56d2b42-cef8-4a07-b8e8-3e039576f6f8 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:414fb11e-f9de-4a39-be0f-0d6f1e18e146 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8c93d2df-abb4-4e68-a83d-9ba0b4715f7c phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:e45d0991-d438-4d49-9dbb-718e8c958c7d phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:03bea369-7fd8-4176-88f9-f07e6bd77a2e phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:f7fdecd6-5510-4beb-8509-95cc8c8a2c07 phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:5d6fc640-9952-4f8a-a56d-472b013f83c0 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2de597ff-918d-4edb-8a2f-3fc22e6a786f phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0cd79798-0cef-4901-90ed-da6211e25407 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:19535702-56a0-462a-bbd7-0edb7b52d909 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5766575d-215e-44fe-bbd3-5a714249b7a2 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:3f4978da-f3ad-4994-9c0c-a8e0aba3c96f phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:df6fb078-1ffd-4452-9331-7a545ce5cbf7 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:12de6d45-3c88-49a3-bac7-c4f8a5822384 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4bb3b579-31fa-4487-953e-1247862ebbca phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:df3b4c8d-a575-4560-8e0c-b7783f48e47a phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:80472976-956f-4285-a496-0fc43fa66ac0 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:f7a31f84-7745-4c0a-a9ff-0c9a9d28d0e0 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0006349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:161cb74e-31e8-42d1-8f3f-fd7c57bffd94 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0003561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:02626af5-b045-4fe9-8754-3e41879c66ef phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5e454bb3-1421-4949-a051-cce6fc3c0fb3 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0d491490-7504-46c0-9f6a-ca0614277d05 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a3681d96-2ca7-467d-bc38-1de4eaae9d0b phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:118be544-96f8-4f6b-8996-bd4f55b1c241 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0011327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d93fd456-272e-4460-a516-fb7230b1df96 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2c10adad-5fbe-422d-9333-9333b6e2b468 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:33388430-cbd4-4789-b347-7110ce830121 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d177bb53-a98b-49a2-a867-a172e690c4d5 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:80b169a4-088e-4cda-b87e-f12005cf7d49 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6dee4d83-178d-4945-a6ba-0f2ca131d5ea phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:109c6ab9-a49d-493c-a907-910a83bcb650 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:64c6ff0f-b204-438a-bcfa-f6a235d3220e phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c48fdc05-c638-48a5-837b-5e1e4aa4d007 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9a0a4d41-fe40-409a-9084-f7989589cae0 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0030127 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9b17da0d-fb7c-4dfa-a059-4b577743a98e phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5da7f2b1-3392-466c-be7b-9c751e4787bd phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:28250da6-e774-49c1-a39e-17fc6391d0d8 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4c52f977-ce3a-4ae3-8cb8-6560dc09e640 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:99fa38be-dbca-44d7-8b2d-f479fade4f38 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:60a241a0-934f-488a-92ce-e916961c8527 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b6e5e9e7-0a9a-42ef-94e0-f2852066af47 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0012157 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:bb98c9e8-27f3-4b16-95a7-4ee945de7af9 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:16784259-8c59-4ae6-89b9-c21fa06542b1 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:b86f8e0c-6d5c-4fbe-ac7e-f5d8b6693bbc phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:3d22d105-3e9d-4c6e-ac5a-37a55da9058e phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:39651550-e205-43d4-8b21-11291186a32c phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:dc97d244-d195-4112-8864-12c290fdcf07 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:72f7d1a7-1475-4039-b316-57d1134ff241 phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:c3a98ef1-4d9f-4513-ab82-894dcd6ce4e0 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e40f857f-94a3-4fcd-8ebe-6001735f6966 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d2c890a6-5533-42c7-9c11-742e85a0f1e8 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:528d002a-da1f-415f-a85a-4a6060a43956 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e27610aa-3033-4e26-ad4a-6e3119ed56fa phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e5463ff0-2085-4f7a-8a53-3af84cce4c24 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fe4fb9f4-b137-48ca-813c-f2f7b3122886 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c76d4d83-4d1e-4b62-aa59-ec43f212c315 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7874142a-6749-49e4-9628-11fd11614bff phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:65e7055c-1ba6-4b68-8bad-e3619522a481 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8e80f865-b28a-4da8-bd60-b5430f4aee3c phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:9d2012b5-3fb8-4738-946a-cc8bd45932be phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:20002b7b-f7b5-441b-b133-aefe0c03c605 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:957f7c63-9aa7-4240-a4d0-5bf873ea7368 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:127e4f2c-dea0-43e0-a3ee-e3e0bd8dce23 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:2bc9373c-8c9b-471b-bcb3-a1debefae195 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:a31d9f45-1ec2-43d2-83f3-4d18ec01770b phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:cc1fb2ad-d8b8-4cc0-a42f-38f48de1792a phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8e8b84cb-35ff-48c6-a3b2-47c8baeb9197 phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:d758fcc1-d791-4552-aaa5-199ac32ea8af phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:8dff2069-cf39-4018-ba0b-a7e2608cc04c phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:140a7ad5-0ec2-4eb4-9493-cf8d2a33bed3 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b4ec6631-8615-429d-94e0-e6c90584ddcc phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:645b9095-dd81-452f-80b2-ef92137f9201 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6e42aa60-a6f4-4888-9506-36cde4427478 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e83b21c9-f408-423a-8bcd-b8b2bbbaa1a2 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:26a02fe9-8dcd-496f-bcce-bafb099d188c phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:5200049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:02232376-14a8-4540-90b0-9a06c7587c97 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:60c01b3c-2c54-41f8-97a6-160f4a7202c0 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0002183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e3274e8a-7158-4774-b4d6-704fd19f36bd phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e8785cd0-f2d2-4c1c-b4cd-aec59bcd0869 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2d94ea67-a348-4048-b74b-8a9a895e6533 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:5200123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6e65e1ff-0611-4d34-ac92-3831bf71f528 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:11b90b84-2811-4ab6-acbb-bc0203a32764 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:69fba56b-d11a-4ac4-a704-37ffa3172550 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:f0f710c9-3960-4ceb-b139-70065ae32e9b phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:c5f48b62-65a6-4cee-83fe-7f35edbc4830 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:3e6bedf2-7f50-4426-847d-00184ec50cc3 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:2fba29ae-e754-408e-86b4-f61d8d43d712 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:4593ee89-a1aa-48cc-87ef-4efa5a8feefb phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8287afa8-8be8-4aab-8533-819434dea337 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:e822c496-21ab-420d-8973-5a550ff7e2f8 phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:ccd1e849-751a-43a1-ac3d-3bf6c548270f phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:f0f5e1a8-7a11-4d87-a939-0bc68ddd9cbb phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:57f3cacb-070e-4dca-aa8a-8f507ef69d7f phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:108ff4a8-1e15-453a-9214-4b470a80bacc phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a4c4a7da-beab-45b2-b15c-55b7ff539b5d phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0007362 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:269a8705-b29e-455b-9d07-9771a385c7b7 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a35375f3-8b7b-4eb4-95b5-c47a16bc84c7 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:dda73ea7-9ee0-4cea-b5e1-0b3964f00457 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6fd160aa-f874-43a7-af72-1d41f6cc9008 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e5a84571-c987-439d-9e5f-d5da45ede48b phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:24b32d14-5bb4-4aeb-bf7a-94ad3518170b phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0007333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7c715ee4-7466-4c4a-a680-9c0930a33220 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0003561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d19efb0e-31f4-440e-a6dd-e8d1e5bd52dc phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c6be9b03-5ead-4b60-8ae5-bfea3cf50b99 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0031750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a1d9b016-6ab2-4edd-9b97-bb8c11c9c5ca phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b1fa28a5-69be-4822-a377-d3be5cf0a212 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a04c9c7a-4ecc-43fe-aa1a-107e936fcfe8 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:88c5fa0b-d9fc-4b4e-aec0-75f31a6471c4 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:d8ee5fb6-d38b-46e6-9584-baf6963055ca phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:00ece710-0094-4eb8-b3f9-e215e560b5d4 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:648c2860-45e1-4e1e-b8a2-28c8b76c3407 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:1bf276a2-273f-4618-81b1-6d1b57aba14a phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:b456ba8c-9a81-4490-86bc-f254a637d3a5 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:d313db8d-88a2-4a9a-b50c-c2be19fa0c0a phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:cf2e9306-45a5-4c38-a5e5-17b77b2cea04 phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:3d73ed1e-b603-49f9-95c4-7d3edfc66dbc phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:643e1a38-6a34-4f66-88f8-7215a7823432 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:033f6cf6-b1c1-4198-a1cd-2b3bd47fef7e phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0e78d2e7-c67f-4cdc-83bf-a700cb519d42 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:c3a46b83-a1f1-4845-974f-709a70194bbc phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7969d9a3-bd7f-4ab9-802b-43f217f9e9fb phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6b717e20-0145-4592-8c76-abf50603cee2 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d87ec276-fbcd-41ef-b24a-951f267bc326 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0694479a-67b9-4021-ae64-32b568ed7f95 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:f8f3e6f7-0577-4e13-883f-883aeb7b9bb0 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5d05ce2d-5a7f-4b91-8d0a-1868bc761e66 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:388f3d22-95cc-4580-9bc6-4a305bcfd740 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5bd9e094-070e-4476-a9ca-edd8628baabf phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:8bd97c17-efc3-4d1d-bd39-54f357ed361d phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:103d8682-49db-41d2-b2f0-68bc9bc07a0f phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:3c5b73eb-dc8a-4bc8-8116-1188c0fcf996 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0009088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d2f9a91b-971f-4764-815c-ebe32df62a56 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e250133e-99b5-4590-b1c8-e7e9bef9311a phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0045074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9ffd2b46-9c29-4512-8beb-cb2d9c135589 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d6a6b3cd-9bf7-4461-9a68-33e8c96a6647 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:79baccf4-454c-4b71-95b2-f1bcc10e902e phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:1c6dae5d-7b8d-4b06-ac48-9110032b989c phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:f474ae03-0665-4fb2-927a-9d8a6dd6b958 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:9406ea85-5b56-4572-b505-bf056206cabd phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:7c31141e-8bee-4972-93a8-1f402d4a9fa3 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:720955ee-2f66-4f0c-9af8-8aaad1ceb454 phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:1038108d-fba3-45df-8ba0-a906b3966fda phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:9f39c13f-e77e-4a74-94e9-3849b4644186 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:50589655-f148-4299-b483-774e124f3082 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5515cfdf-0915-43e8-bafe-920b86b435b4 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:56b18032-8219-4ded-9812-09a87a0fc76b phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:5200029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6037d496-c406-45b2-9fe5-b504f3de9693 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0005988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a33757fe-44d1-4ff0-8981-dfc0888e1026 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:749a4ed9-6105-4486-aa12-4bea5496d73b phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:1e76696a-e43e-4e17-a1cf-d30314acbf24 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:1c0c86cb-240c-4eac-a56d-1383b5b8e986 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:51a78071-7656-4a33-ac4b-6fa65f3df13b phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9315eb30-c1f0-42a8-b9cf-e3de1359c29b phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:8bb066a8-7406-4b2f-a70b-28ef1bd9d328 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:330c1e1d-b630-4b62-a71c-d77c451c985c phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:8ee0566b-fb88-4933-ac63-b0a128aa1d9d phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:db67939d-8408-4f71-be2b-93542690b272 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:8ec05400-35ac-4cc0-bf7a-610d7435a628 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:9af1686d-e0eb-4151-82d3-db45252c1d43 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b0217f90-ce76-41d0-8944-ab706674b382 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:dfc59a64-874f-4962-9bea-df4a93ed271f phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:49619148-e7f7-4b12-a45e-0ad65b3aa9dd phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:bb2d37eb-5d4d-43db-96e1-40dc58f7c6e1 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:d0e5ab76-5170-4eba-9118-8d642961c739 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:59a20efa-1b4c-489d-b985-ef413a53dd52 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:7311e406-3631-4c5b-bf9d-7b5dfd6a2527 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:9a006711-c00e-46cf-9d21-9f7affdeda10 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:209e4031-e99a-4bab-80db-233fec6f05c9 phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:78c3d6c4-b2be-4945-8f76-87a01da37340 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:ad7938a7-f456-4398-a831-2f37d74919b9 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e21ac264-b074-483c-ad1e-dc472dbfa06b phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:ac16f6dd-27d1-4a5b-bc31-9ff0f122f9a6 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d4203339-866b-4366-90c7-8fea386ed4c4 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a4bb39d2-1c74-4cd3-8c5d-d7c5492ccdbd phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:224db315-46e2-45ac-b1cb-d8aed491c933 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:164e87e9-0f61-4584-a39e-08d824223e03 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6c6864f2-58a6-4713-8b9b-36c798f47aef phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:f4ea424b-537c-4a39-84f0-e0e4e7d88eae phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:44d6da18-8b12-440e-99f5-f456b8e49a84 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0010783 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6b030905-3422-4db8-a628-fbddbf59d521 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:523d05ae-f1af-410f-b5ac-b5592a21d0f8 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0010743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:773f6869-36c7-4180-82cd-7b4e796ac3f1 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5200ea8e-f87c-497a-94aa-b0e7e7ee2883 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0885dcd4-c7ed-42ff-bbac-bc60a145dd8d phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e3844a81-aa6f-4516-a0e8-54a2d066f857 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5951cc3c-0111-4ee4-a8ca-ceb84ab943d0 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:3e736103-3588-444b-9c85-2a68d644b486 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:5200125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:edabede9-b743-42fa-b3fd-7b53e1889783 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:58bee834-5609-4a21-af4f-beef5f762c6f phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8c2ee490-4d44-4038-acc6-1f9e1100aee1 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8ff2a12b-aad8-4a3a-9684-c687e861d39f phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:b2fa7b2d-3500-4b04-8274-42fe87821704 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:dd29fcf5-56bf-4d0b-b12d-478bdd7e7bc5 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:9a109b63-5cdd-4f76-b8e0-7298613befb0 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:7c7bda26-b98b-4834-ab40-ec87639aac9d phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:9bbb3119-74f2-407d-b354-8d74e362a141 phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:3fe96393-c328-410f-805d-9e22e3573c8d phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:e0ecc424-ddca-48b6-97d9-3fcb25e0f517 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:34e3bf69-6c88-4a72-b91e-7c2dda82f080 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:32926c7e-4cef-4d38-9bc7-085aea19ccec phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:eaa1c189-97b5-4153-b07a-6349d62372b8 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:05d8f787-3303-423f-af06-9a65282674a9 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e1938802-781a-4d54-b9d4-114f588e953a phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0003561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b9629e11-d87e-409b-a470-6934a36096a3 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a3f05a74-fb92-4d2c-a6af-026c680913b7 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:38cf35da-c340-49a7-b207-ba7e2e245e22 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4a1f488f-1ff3-4231-8608-89206c48be12 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:3b239697-90ee-4ae6-862e-e7fc7987b85c phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0a77ec32-38a4-47a4-a11d-67d4b605544a phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:ba803643-9de3-4618-8c62-b5d17a757de1 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:bec8fcba-4051-43bb-8a96-94fe5f64ba26 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:a20609c0-5bc1-47d5-aa73-8b83a7ceb4e2 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:7f1ebf24-fe65-4726-93c9-9e575888dd51 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:a6893e9f-3309-4bf8-a040-f7691316e22f phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:08d6a431-31bf-4a19-a1b2-b9ca71dfcd45 phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:d1bb38ce-b6bb-4590-88b6-9850f2aa2d2e phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7f0342fd-d619-4a8e-b9d6-1a619cbe796f phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0100790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:20ecc10f-c44b-4bf6-a688-b958d3c4c449 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5a097539-9d86-4fdb-a474-ac7dc0e687b8 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:5200130 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:995746a4-626e-4ae9-ac3c-909eac73d775 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:cc1af92e-4916-4bc8-ace6-a18de697a0a7 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:19a2bb69-e782-4f9c-b186-b5ef451db2f6 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:dc956652-1caf-44cd-9019-e1a03aba5451 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0007188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7787dae7-fb82-4231-b315-625d34b2629d phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:15ca2e7c-a547-457d-9ca0-402496c31cf7 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a5e41f66-3b4e-4fec-adb3-d8ae5c20331b phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:54d546b0-5770-4cf4-b5b9-5b7dee5f15ba phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:83afb8b4-f7e1-470b-a5ca-a9af883a2b16 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:877bcb12-1979-42da-91ab-a0cf4c5817da phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:835f61f1-63ed-4ff3-a771-c6f6452d9bf4 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b77bbe8d-ee4e-4456-9eac-f2b17dfa8f6c phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2428ebd3-2850-4793-a8d2-49efc7ee4955 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7cec0b9c-9d03-49ad-b8c0-975acc2dbef6 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:acef08cd-d7d8-45de-b98f-1594723e12dd phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d051b815-c517-4538-b33e-bffc2a365671 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4011a2bc-9177-4693-9bad-05858317fc24 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:37f55310-ab6c-4349-a10d-226fc5d1433c phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:74bf0e54-ceb3-41b3-a0bb-6e3edd0dab3b phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0813c745-ef89-4d62-84d5-6f7bc82c13c9 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:23651ab3-0f06-4548-abfe-15036524b6f5 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:fd3f0c8b-f3c6-4fe5-a2d3-dd326814032a phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:120b78e5-b6b4-4b4b-8bf0-84affab8daa5 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:41ab1781-7b3a-41b2-9970-43f0929e258d phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:e8cdd3d6-3718-472a-b1e5-a78fee9c7616 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8dc6e5f2-5d18-49f9-a9ba-acf73f6da9de phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:bb238192-ab6f-4a12-b9e9-d37e668b5581 phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:99eaec2c-7802-4a36-ae20-4dbbf13e85bf phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a2c2e10a-d77b-4873-9436-bcc412e74bc2 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0910cd96-12e3-49b6-8c0b-cda02550df1a phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0006889 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:db69aebd-7034-4789-890e-54f5706dd66a phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:81fa725a-42c3-4ad0-b614-2550e3888627 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e9c1fcbb-ba7f-4d88-8345-2e51fcb7c6cc phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:868e74da-4ffd-4639-b01d-6d5f41a4f867 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:004df622-50c1-4b2b-863f-4086a13e4aab phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:2ff311ee-748a-4a25-a5a6-9e546004541c phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:8c9c7608-cc51-40d7-976e-4d7e548b2cc4 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:3099935f-17db-46af-bdb5-50044041bc87 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:f789158f-6c65-4c7b-9b5f-44ca7243859b phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:6f4691b8-77e2-4da8-addd-ecffb43075a5 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:d5d96c41-2c0d-413c-9c74-6a7e82b6c209 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:7d76f2b2-487b-43c0-8e37-9ca2e934d6a1 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b0fad73c-4399-4502-a413-7c16d86cfa7b phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:e9cf90ea-96be-489c-96ff-3bead3cdb932 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:77389ad0-be38-45ef-9dd0-e0abbb1aae60 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:95e9975b-97be-4f13-b594-5a0e64e88cf9 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:fe0f71af-4735-4791-86a2-6a9dc2f74a78 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:8cab05ca-bc7a-4f7b-9cc6-ba6d2b69cb14 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:5cbddd1a-6385-4d81-8217-effe01afe628 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_phenotype HP:0008915 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:53dc853a-108f-47a4-b6fe-6f7c51ffa4d1 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:87df4d56-c761-4b3f-ad15-b1cf5ec70af5 phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:7ed6fa3e-f6f8-4744-a5e8-d3ed60053f67 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:5587d514-d7c7-46f9-9ad9-69f2828dcdc3 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:b33ef7b2-27c5-4723-9ee1-5fb9cbf2cb94 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:3bf943dd-2ca2-4647-a898-de39fe3deea3 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:4e837a37-7bb2-44e6-aeac-da738cacfdcd phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:1edd03d2-2b02-49c2-8359-2c108218b2c6 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:a529072d-b44c-4b13-8f0c-9309a5a6dca0 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0025502 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:420ca870-0a13-4075-969e-e34c9c41d7f8 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:78ed585f-bfb5-4ef5-bc96-26fde21c6d17 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:cd4b3467-be8d-428c-8b66-47d3584eb2e3 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:0dcb880b-dba5-4308-bf9f-087c88b1db8c phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37071997 uuid:73aebd3a-a4ac-4ee7-84fe-297864fb16b4 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:c7f6be80-357c-44bd-a217-6c45184e7d3c phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:ee21d990-a75f-4ad8-9042-394e253baa97 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:fe888b54-b2da-46f3-ab84-5481dd944b51 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:d0eb2b24-d227-4d3e-9a45-8c21ad5a55c4 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:9b58cc72-bdf8-4de2-9d44-6d497a495125 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:82af38b1-151d-42e2-abf2-e3db16b418ed phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37071997 uuid:0a711e7d-f9cc-4f53-bee5-590bb14515e6 phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:2b05e4df-d988-47a5-ad37-5100b0e8977e phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:has_gene HGNC:10780 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37071997 uuid:d4e1bcee-6ae6-4570-9ef0-2a8fc0cdc88f phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:4faee5fb-a266-4c4f-8d66-dba88bdb468d phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:51aeed7d-5b13-404f-924f-cadcedf72f7a phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:9a755460-9ad8-43a9-a306-38d77b861372 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:99da03fc-c133-4975-9813-59d93b476cf7 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:c16eca92-9355-4a31-87b8-735b8741a6a5 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0003777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:6def7848-9637-4587-adac-daf57b9458c1 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0004779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:35faca8d-b280-4f40-9dc9-013466311294 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:d020666d-5f18-47e3-8ce0-272ec617e3a1 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0025724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:26a2fea6-47b3-4f5a-99d6-bc0f90a2b35d phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0000698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:4be3e40b-62fa-4ca6-9c79-524700cbcc83 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:df17fa0e-f94b-4115-bef4-5228cc9fa3ba phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:5679291c-6e0e-4171-af21-0b19cd8ed27e phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0031830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:7223eb93-6bfd-41e4-9ca7-47510c20f3de phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0000966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:9a85af4e-c187-4bef-aae5-e41d4d14381e phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:8571229f-da4d-431b-bded-478b038e46b5 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:e1b10b60-65cc-4240-a654-6c7397c2ae3e phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_disease OMIM:602400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17273967 uuid:e9564218-622a-4bd7-9486-231afd75ec74 phenopacket.store:ST14.PMID_17273967_III-8 biolink:has_gene HGNC:11344 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17273967 uuid:dc7809a9-305b-46cd-8726-b1f75b2defa8 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:295b6a33-fe15-4701-ad0a-9b10b9ebfeaa phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:743adbdc-32f4-4e48-af29-bf0a578118ec phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:a3ee0d3a-ffc0-4094-8b4d-efab697e4337 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0031830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:f5b04f24-12a2-4a01-93f1-123847ef5587 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:5747edfa-7926-49e4-aa42-0c5dbba8e780 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0003777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:89c4ef2f-f514-482b-9153-966bc8098afd phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0004779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:9c903a57-f0ac-45b1-89c0-ccc2fe150373 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:8b1f48b1-7b88-4ae9-97d4-8b382248dfb1 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:003d550f-6ba9-4066-8fae-d42feaa86e22 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:dfa27c1c-d05c-4994-bf2f-bf7328d83819 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:1ab304d8-a0a6-4549-9ca4-195ced5c78f4 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0000966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:eed8ed8e-1aa2-4298-8f4c-984235f225ac phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:8e9a547b-cb10-4e4e-9453-c145f95d9dcd phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0025724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:ac0ef32d-fea7-40af-91a4-d4e01d102a6a phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0000698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:c9509858-373e-4ee4-a6e4-cf8bb52c0e10 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:37913f25-54c7-4615-aded-24f458d1821d phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_disease OMIM:602400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17273967 uuid:97ac23d5-0e33-40fa-ab75-74f5bb0ca152 phenopacket.store:ST14.PMID_17273967_III-1 biolink:has_gene HGNC:11344 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17273967 uuid:fab9821f-14a2-4478-9a46-b6291d3f168c phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:06a5a0bb-cc86-42a4-8c6f-c1360ec3770d phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:9073935f-8046-4e3d-9f45-31b35c5f84f5 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:02ebb713-83bd-4e85-ab8b-8bdd3deecf0b phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:bc35045d-415c-4a15-b30f-692737a25af6 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0003777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:d0fc7583-1f84-448d-a54e-d5dde8054be2 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0004779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:b2a7fbec-32ea-4a7a-85d3-2fdbbaa5e65d phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0011359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:cddfdf7f-6097-40c6-8038-76c50a59540d phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0025724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:708641e0-dab8-4d3d-9a7f-f50bf602f760 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273967 uuid:594996ce-0fa7-4988-b157-0254c67771b7 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:9efdf650-8439-4c69-b63c-a3db812277bf phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:ed4d2d8b-ad09-49c4-a50e-bdf3fb727c59 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0031830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:83edd01b-b50e-4311-b9fb-737a57890f43 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0000966 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:eee21948-50fe-488c-a868-7900702fc179 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:a1675f10-0486-4e15-8630-41d19df7dea8 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0000698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:fa493579-ef3c-4907-b23d-2536d7fd0768 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273967 uuid:9e5b312b-e075-4a2c-8c78-e2a27b8eb701 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_disease OMIM:602400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17273967 uuid:9a99fad6-9a29-43af-9b12-03241dc64ae1 phenopacket.store:ST14.PMID_17273967_III-5 biolink:has_gene HGNC:11344 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17273967 uuid:5139de22-1902-497e-b310-5b3ac3229adc phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0008064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18445049 uuid:bbd6a7ba-5814-49bf-87ed-af6a8752cce0 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18445049 uuid:1bd28091-c76c-4ac2-89a3-4e185e4f30ce phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0000498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18445049 uuid:f1bf973c-837d-4327-8356-4c3333341485 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18445049 uuid:158ec4a4-babb-4a86-9421-2beaa94ed985 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0002212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18445049 uuid:fde88f4c-1feb-405e-9462-d7ecab513bc8 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0025724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18445049 uuid:4eac0fa2-f814-47eb-ab90-f2542c654ad6 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18445049 uuid:bd14342f-4869-4230-9521-a9acdaf6a336 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0000613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18445049 uuid:5350c909-7129-4d31-a6dc-5c640626d7a8 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0007479 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18445049 uuid:b3909280-210c-4162-ae24-2313bc5e2c21 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0000698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18445049 uuid:69dd9cd9-87d3-4f92-803c-f407c6788554 phenopacket.store:ST14.PMID_18445049_patient biolink:has_phenotype HP:0001597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18445049 uuid:56b71a8e-c972-48cc-8c38-9c693e4dc6d4 phenopacket.store:ST14.PMID_18445049_patient biolink:has_disease OMIM:602400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18445049 uuid:c8270372-1b18-4e61-990c-3749e6ff5f25 phenopacket.store:ST14.PMID_18445049_patient biolink:has_gene HGNC:11344 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18445049 uuid:8b3167bc-7f6f-4723-a30b-f41f31f4a08b phenopacket.store:STK11.PMID_15200509_Case_report biolink:has_phenotype HP:0032451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200509 uuid:d9c2d477-53d9-4d39-aecb-6d0058a57939 phenopacket.store:STK11.PMID_15200509_Case_report biolink:has_phenotype HP:0032454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200509 uuid:6e5a0fdb-6e4d-4cb2-8071-16d2377bac63 phenopacket.store:STK11.PMID_15200509_Case_report biolink:has_phenotype HP:0004390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15200509 uuid:64da7d53-453d-4553-ba4c-d7e6266677fe phenopacket.store:STK11.PMID_15200509_Case_report biolink:has_disease OMIM:175200 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15200509 uuid:9cbd9db4-1a40-4d07-aa5b-862c9910a0bc phenopacket.store:STK11.PMID_15200509_Case_report biolink:has_gene HGNC:11389 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15200509 uuid:aae9e7b1-554a-42d7-8717-de3aa2e4a066 phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:2fd49b7a-b414-4731-88cd-d4a4b358e2a1 phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:70baa35a-2bbb-4bb3-b13b-4597c8eb5321 phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:38f9770a-d5e0-4fcd-9a48-dd94f86bd3be phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:6e87856c-597a-4981-b7c3-3b58cc9d40de phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0034811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:32ab8c7f-4628-4c68-a96c-c4ca134ada5e phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0032559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:4d6e7337-e40a-43b7-a0a9-b100455e81ea phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0032558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:307f1b67-24ab-47b0-a1e1-4fa323ca265b phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0033393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:2f3b6eba-d62f-4ef2-8681-03a68a792d7d phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34155512 uuid:afe4e0a1-aede-4372-b1f9-0650a74c8263 phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_disease OMIM:620849 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:62e5fb47-f891-48ae-9fc4-5057e75a6428 phenopacket.store:STK33.PMID_34155512_III_5 biolink:has_gene HGNC:14568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:504cdd0c-71de-4421-adf0-16b9772d331e phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:8501ab5e-dffe-4d88-970c-66cc9f316594 phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:880ee02b-b5f3-4c01-855f-22d4ae61d2db phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:dd5ccf2d-f652-4b2c-bb4c-9244f742351a phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:a9458084-87f9-4dbe-9e57-2d0b970606d9 phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0034811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:f6ea37fa-d3cf-4055-8284-eae1601fbf1f phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0032559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:b3a9cc0e-9e7b-4edb-a1d3-22ccd7626ba6 phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0032558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:8aa53b40-9c51-41cf-b618-65a67194f1a8 phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0033393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:df34c055-a09a-4244-9a3f-a7486173557d phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34155512 uuid:38bacd55-1bb0-49cf-8d81-b79969491fae phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_disease OMIM:620849 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:0f9d4cb1-e66b-4ce3-9aa8-2a376c7b4d6f phenopacket.store:STK33.PMID_34155512_III_3 biolink:has_gene HGNC:14568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:9c76bece-1a56-4119-98b1-06abbd9d96e0 phenopacket.store:STK33.PMID_34155512_III_6 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:c61e1020-4a0d-42dc-b702-2d90dfaec96d phenopacket.store:STK33.PMID_34155512_III_6 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:b4039e76-7636-4d34-be03-0ddd378ccd70 phenopacket.store:STK33.PMID_34155512_III_6 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34155512 uuid:16558383-74f5-4e79-aa05-063e4ae0f618 phenopacket.store:STK33.PMID_34155512_III_6 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34155512 uuid:40d4537e-9f1c-4907-ba91-c10408c49169 phenopacket.store:STK33.PMID_34155512_III_6 biolink:has_disease OMIM:620849 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:a19f2b7f-ec05-49e5-b97a-fa74033f3c87 phenopacket.store:STK33.PMID_34155512_III_6 biolink:has_gene HGNC:14568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:bd2d73f1-be97-464b-a62b-08c4385526cd phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0003251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:453f04db-5512-4427-936a-7e7af67566de phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0034011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:bdfea158-2572-4d1f-86ca-ff1ba7278cb8 phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0012207 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:00592b84-af4a-477e-81ee-f331b1a95933 phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0032560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:c579eae4-b520-483c-b0c8-0114bd80f1e5 phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0034811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:a34dc146-16e5-4a85-8149-bef893223cfc phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0032559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:1bb8edbb-46c6-4363-a606-38aa5ce7e45d phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0032558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:4176e2bb-ef1e-41c3-89c1-0db1c4f0eb74 phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0000798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:705a933e-f8d2-4554-be36-c802b4e517a8 phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_phenotype HP:0033393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34155512 uuid:787e2baf-a7ce-4382-b6fa-c88d8825f28f phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_disease OMIM:620849 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:d54ca91c-4bf0-48fa-bb50-19d311140e48 phenopacket.store:STK33.PMID_34155512_III_1 biolink:has_gene HGNC:14568 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34155512 uuid:70796e56-9920-415c-8f12-5e84be00911e phenopacket.store:STX4.PMID_36355422_IV_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:d9d8cbc8-bfe0-4770-8433-ae19ae476d8c phenopacket.store:STX4.PMID_36355422_IV_8 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:87f178e7-f8ae-4221-a1f4-a5c9d63caf1a phenopacket.store:STX4.PMID_36355422_IV_8 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:0a54bac4-3640-4c71-8eec-ef895513ed9b phenopacket.store:STX4.PMID_36355422_IV_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:d92c5251-09cc-4a2c-8ce3-2bf2bd45a15c phenopacket.store:STX4.PMID_36355422_IV_8 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:e97f662b-113e-449f-9c34-a552bedc1f2e phenopacket.store:STX4.PMID_36355422_IV_8 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:e05f8cc6-d13b-430c-86ff-a5065b135f5d phenopacket.store:STX4.PMID_36355422_IV_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:bdf02e03-a569-4a1a-850a-66a48baf96f8 phenopacket.store:STX4.PMID_36355422_IV_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:5293c377-5c96-4672-8f52-6bd9bdf35105 phenopacket.store:STX4.PMID_36355422_IV_9 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:9a00758c-4511-4503-a924-94c458d14f81 phenopacket.store:STX4.PMID_36355422_IV_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:4d22916f-1823-4c84-a468-d54958ae3633 phenopacket.store:STX4.PMID_36355422_IV_9 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:4dce5040-ef0e-4e1e-b321-e8b8fa34a674 phenopacket.store:STX4.PMID_36355422_IV_9 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:0b398ca9-ed63-4c5c-8438-eb89866df250 phenopacket.store:STX4.PMID_36355422_IV_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:fa7eeaa2-4c7c-4457-a12a-9ecf83341ac5 phenopacket.store:STX4.PMID_36355422_IV_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:e725ebd1-9498-498a-9939-1e08bfc9ab7b phenopacket.store:STX4.PMID_36355422_IV_5 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:0d2eec99-4484-4f66-8799-506591c671ae phenopacket.store:STX4.PMID_36355422_IV_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:a409df15-742d-42de-8e53-d0551e314f6f phenopacket.store:STX4.PMID_36355422_IV_5 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:c04f1d72-10f8-45aa-8de7-a2bc55f7467d phenopacket.store:STX4.PMID_36355422_IV_5 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:1243311b-8acf-411e-9b0c-c0a493895894 phenopacket.store:STX4.PMID_36355422_IV_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:01227d3f-3979-4553-9176-18af8d78b85a phenopacket.store:STX4.PMID_36355422_IV_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:dc922619-267d-4337-9269-10be6105fa76 phenopacket.store:STX4.PMID_36355422_IV_1 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:5381805b-349c-41d3-b388-f5f9c345e0ce phenopacket.store:STX4.PMID_36355422_IV_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:8aa0437e-a8ea-427d-8163-cae95eac4e05 phenopacket.store:STX4.PMID_36355422_IV_1 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:9d11b9c4-d85f-472b-92f5-33b1af23b2d7 phenopacket.store:STX4.PMID_36355422_IV_1 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:18dee3d6-2a68-445f-a883-87b915e4ed24 phenopacket.store:STX4.PMID_36355422_IV_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:7f3b5628-1bf6-4f26-ba89-346e4c280542 phenopacket.store:STX4.PMID_36355422_IV_4 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:cdbd9181-167e-49c8-81b2-4c76a34db2b8 phenopacket.store:STX4.PMID_36355422_IV_4 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:3c7ad7df-e68c-4074-a8f4-2c0ff4e8ef39 phenopacket.store:STX4.PMID_36355422_IV_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:b48a8858-f555-4658-9f66-2fe5e6bbc361 phenopacket.store:STX4.PMID_36355422_IV_4 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:8a7a4875-648a-45d8-a4ef-6b905375b0ed phenopacket.store:STX4.PMID_36355422_IV_4 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:dfd25132-52c5-4455-ab45-7ee694d74d75 phenopacket.store:STX4.PMID_36355422_IV_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:7f61c8a0-559e-4d59-b898-fdcde1ae5ad9 phenopacket.store:STX4.PMID_36355422_IV_10 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:cc5c27ae-6f07-4d19-948f-747e4f002729 phenopacket.store:STX4.PMID_36355422_IV_10 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:3da16433-acf2-43e5-887e-470605e3b6c6 phenopacket.store:STX4.PMID_36355422_IV_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:8278b75b-0dd1-4f2d-9fd8-271f91c2e761 phenopacket.store:STX4.PMID_36355422_IV_10 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:02b26bfb-b7b1-4e44-a28e-cb1db7d5e169 phenopacket.store:STX4.PMID_36355422_IV_10 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:f706e914-687d-4ba1-8c3d-952e3dfa01ab phenopacket.store:STX4.PMID_36355422_IV_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:d23f3549-f5c5-4cdc-835a-3dae0fce1da0 phenopacket.store:STX4.PMID_36355422_IV_7 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:650db954-0417-4aeb-b979-40581efba01c phenopacket.store:STX4.PMID_36355422_IV_7 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:466238d7-5b1f-4996-b375-5fffe32dce76 phenopacket.store:STX4.PMID_36355422_IV_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:6352e3e7-f2c7-42dd-b317-f0c74a681e29 phenopacket.store:STX4.PMID_36355422_IV_7 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:59f52e59-30d8-45b3-b27e-9d4d72a36425 phenopacket.store:STX4.PMID_36355422_IV_7 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:5ed5db9a-3239-4da0-8dcf-145b3054329e phenopacket.store:STX4.PMID_36355422_IV_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36355422 uuid:a3e8ee05-89de-48de-b694-6da6f077f308 phenopacket.store:STX4.PMID_36355422_IV_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:d9be9fea-1f9c-4235-984b-ac5e0dc1a33d phenopacket.store:STX4.PMID_36355422_IV_2 biolink:has_phenotype HP:0001751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:c9c5f6ce-916a-4d8d-b94d-c8a211d393b8 phenopacket.store:STX4.PMID_36355422_IV_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36355422 uuid:c657957c-ee8a-4c25-866a-335b3f15eff5 phenopacket.store:STX4.PMID_36355422_IV_2 biolink:has_disease OMIM:620745 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:60bc1145-cc7d-4f85-8d94-05263a7cba0d phenopacket.store:STX4.PMID_36355422_IV_2 biolink:has_gene HGNC:11439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36355422 uuid:730b1ccb-2b32-4c82-a731-3382d7b6accb phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33f7f09b-4f5e-4c61-bd42-74c2b3c05481 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b9ace78b-46e4-465e-ba87-44f3aa4e3b70 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fed367ef-571a-4990-99d5-04225b33fc85 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4476b77-de07-4641-afe9-a9c3e27d6785 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9eda7986-ee1a-4e2a-ad97-e870cb48749b phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:415b4dbe-9454-4d91-8deb-22276f01562d phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e0eec4f-3559-400c-b2b1-62c3cca396b1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e141337-87c1-4284-8c67-8b7e38c48119 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:63d29fe6-213c-4fd7-9a50-f4f0e18c41d6 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0e355f6-9df9-4d86-b838-bb36ffe431e9 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34a52ef9-0c21-4d63-9d04-77b57eea95b1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2557c2c8-7176-4209-b2e5-22165c747163 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8eae3612-88d1-44dc-b24e-e6bda83e2b39 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3388d51-857c-4285-8c6f-5e223453f11a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81ce0299-640d-4521-a134-2aea76838718 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d9c70a3-b9ca-4365-9883-bd6a1a4fbe93 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6143e5ba-c9d9-4c32-9a33-cde616c92fad phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a671b02c-17d4-4cf3-b75e-29d81beedd5c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39d76a6f-ff90-4c9f-83c2-92af2436ab5c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0db56d51-a2b4-48ed-97be-6edddcd77400 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6aa63913-94bb-4499-ad8f-962cd1af34db phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0b75286-601c-4ced-9744-69791aba9fdd phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d958b41-18da-46b7-a4d4-31dbd3f5ab14 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a2c26a27-46f7-4273-ba20-d71ed4903433 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0002075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:815f803b-98e5-4a19-8dcb-ddf9cfd22a44 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:afcac36c-0fa8-4f89-b6f8-da77ca303556 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:302dd934-4d7d-4ee9-8532-46b72e2c371b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:00352f71-afd9-4fcf-b994-7a6965befc0f phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9cc04836-ee5b-4f8c-9155-a01542583315 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cdcaa61-eb6a-456f-88dd-f910164ea4cb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6000ad8-3c98-4e9c-aaca-05ec9962cd76 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:775a8ba7-7f5b-40e6-8a17-6cefa6344538 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6813fe81-99a3-42da-8d05-ccc4944d55bf phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b873aad5-9791-4f25-9844-d675c1399f93 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29f731ef-5eaf-42bb-bf79-ab8659c9db8c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cee0d901-8b8a-49d4-9aad-ecfb51d5c592 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1cf3d5e6-d7ef-4856-af30-111418c18e62 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b64bb6e-0874-4241-84e2-2ec4f2c02da3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be8665e8-951a-46f3-a3d5-8b83b93c5da9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba44706d-f004-4e5d-b40c-26bb1612377a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ad3b47dc-2271-47e4-975e-e68f504fae15 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e46cc5ca-a943-4777-ba50-efd649681eea phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:671e3278-dc75-4296-a7dc-aba9d1e3b13b phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5f3335d-a2c6-4c95-8e46-46b2860a5bc7 phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d173a75-1065-4025-9f2d-8f07e4834afd phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfd38975-dd2e-471d-8ee9-5267b2f92824 phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b1f0e03-d993-4cf9-8f59-4aa0f3314a4b phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0729ad0-30aa-4bb5-a61f-1bd750b9a645 phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e23388a-bd4a-421e-a125-92391d0e9848 phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc88087b-75fa-408d-b29f-227d7186f31f phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f23cc390-9781-4c31-b565-cb105f597db6 phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b6f143d-7626-459d-a042-3ddd423abd8e phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:597b4940-1356-4109-bfef-568fad12c506 phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1edb23b7-6a6e-4293-9f9a-b73022bc3adf phenopacket.store:STXBP1.PMID_35190816_STX_26633542_No_ID_2 biolink:has_phenotype HP:0000707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42059d59-f9bc-4aeb-89a7-15dbd1bed5e4 phenopacket.store:STXBP1.PMID_35190816_STX_26633542_No_ID_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8dccac68-7fc0-49e9-a223-b2429a079bec phenopacket.store:STXBP1.PMID_35190816_STX_26633542_No_ID_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:10eca476-c251-4653-be20-9ad65f4c24cf phenopacket.store:STXBP1.PMID_35190816_STX_G3_P8 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:63feae15-e9e5-49d1-adea-7b6d048241b9 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a7bcf56-a1e9-48c3-a2c7-9633ad198f55 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:76c427b1-4e77-49ce-81c6-85dca74dd78c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ffc550d3-fec6-40f8-adbb-10ce27f42214 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f58dabb9-f521-4c63-9e67-641e580be34d phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82ce3c2f-0ea6-4bce-ba68-ff99ed95b7ae phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8dde5b8e-ab24-4ef7-8232-108aef775f3a phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6116fe4e-041d-4b42-96b6-1c99d9815a11 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ffaccffe-0b18-480b-8868-472625b317f9 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:28357518-7670-437e-b37a-d75d438feff0 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55ebad20-30cb-4c33-8dc0-58f1756a22e1 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a82e88db-67a6-4004-9b4a-d13257aa5f29 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66dd2679-9d94-411f-8543-bfb2b2b6098f phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9969916-1125-4158-92ae-32dd2b2a0532 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d72b7bf9-6528-4d80-8dcf-5e2995d97dcb phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cf923351-ebb5-4ad7-88c2-c87c5ed47230 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92861937-211b-4eb3-97a3-a56148d3ff89 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a01654ab-427e-4114-ae19-52493b2531a5 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34ec0a5b-9ad9-4802-b60c-cd034549ea58 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7776fc07-d9a3-4782-a462-73cc5275d77a phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a44eb14-0097-40bb-b5d9-f4533985b4b5 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4432df27-4c1a-41c8-8f7b-0080f0b95cb4 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:84563735-eb7a-4e4b-9d30-5858f721c238 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab9e943d-6bbd-49c4-b014-f7a712ca6419 phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa21ce8f-a7b0-4a4d-8988-1ea302ef188f phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b642543e-0276-4788-88a2-18cf48fed99e phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:53b52f13-74df-447c-945b-cd9d9e885d16 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7b2222a-e3aa-4234-83ce-7314dc960f66 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal11 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f423b2c-9918-43a3-8a94-43e6d19e198c phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:142e4974-ddc6-4844-b1f5-353677576275 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:637bb9e0-49d9-4f17-80f2-8de4245ff8ad phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:85dfbca5-8926-4461-a3ab-16b8d208f97f phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:931ae405-236b-4eac-bd83-b6faf047eb24 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7a82fbd-3c3c-4bdf-9100-5c19aaec74cf phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b43b240e-0608-4dfe-8278-caef4fc232bb phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:142dc8c2-9e6b-435a-a1fc-bf86bef8e557 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4e743b17-5c59-405f-af90-8e6cfb3b78df phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:249fab34-aacc-4d4e-9d1c-c641ba01f9d0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:348df14b-3823-481a-8ca9-67542cd26e03 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b46b68f5-6b4a-42f0-a45d-ba652d769949 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b668802-e2a9-46a3-8af4-f5ca2fd7ef83 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25fd5fa3-ad50-4480-9044-3cd2d24b0836 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb08a4c7-6ede-4ae6-9c06-0c6b554fe7bb phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f257d76b-57fb-42e3-ab24-30c8be9448ce phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff735a8f-f7a7-46e9-b0a4-13de327956ff phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3055e32-511a-4b7b-83f9-8cac98a469a5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb1674c2-141c-4b38-b94e-3cbc37ec0da9 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e6fe5013-e128-4b2a-ae4a-2f226b965923 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea32cfdf-bf3c-446d-9a77-7a03b9c15fb0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3f10142-4f91-477d-a7f8-8e6868ab506d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4c682e86-bbbe-4ba2-a465-cf1b96ec472d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:24c8c8d4-5916-4335-850e-677f14b723ce phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7a0d68f-2a45-40ff-8e6f-13fd5761928b phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:866bbfa5-b39e-4abc-9c68-68f33825cc2c phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c524dda0-b895-4fe3-a626-59108d65db7b phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:36871158-e975-42ba-8093-636677535bae phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38194812-24b9-44db-8f27-b35a9d0f4318 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:150921c4-3ff2-4edd-8a31-8e730c45404f phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0a79df2-9f17-4013-9d5b-e5a68aa072ad phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6f534d5-1b4b-4d92-9401-7f612b8ae686 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae68b66f-71db-4792-9e6a-bbda1a7cb0b3 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6a3fecf-8fda-4b1b-b736-0a06fbfcf7f5 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0012420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e80e1dc6-33e0-456d-a8ce-ce2e8998cfdc phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fe3019d5-89c3-4c92-b7a5-bd7730f8bb51 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3426390e-1138-4b6f-a983-c0577fa3ea4c phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000492 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c177d2c3-992d-4f68-983f-324d4b92df2d phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000356 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f58d660d-61b0-4d4f-a56b-060a86a84144 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e8dd578-eb29-4878-b916-35ff991dcf94 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:312fc9a2-a728-4d02-b4f9-09290dca7d14 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a6c35a3-3828-4dd3-a047-9e22b8755e66 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_phenotype HP:0002060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35190816 uuid:20089b6b-1aeb-4f41-88fa-4f10dc402a64 phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4d33fe35-1f31-4b20-a3cc-c97ca379d20b phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:992b2270-5c6e-4307-a732-d5c4693f88e8 phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e6e825c-a27b-4e79-b4e2-57e29d818c58 phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed564c12-efb2-458a-a5ba-0257d01c2a5b phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:864f45b0-1bab-4021-a7b3-1d2a020e1020 phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c311894-7810-41b0-ab48-ef1cf0cc5d9e phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0441127b-a182-4da1-8ba3-f18d0ccc604b phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2819b912-69d3-43bf-8e77-fe81ec69be6a phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5bd7967a-12c2-4cb4-919e-dfbb6dccfd09 phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5c6d0ba8-754e-4c02-b663-3bc2801081e4 phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f1b2f10e-e9bd-429b-b0d6-86322ca865cc phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b9bf2d00-fdad-45bb-9e13-a0f68b9b7a24 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f2320de6-f262-4c20-83e8-4557b52cf4d5 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01946332-76c2-43c7-9795-63bb2122ee0d phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9acc1ba-7f1b-4c16-9e97-c656f5441e78 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7dda528-0f92-4071-81d0-7b71645ecd49 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75e85d90-2aea-40c3-a288-e4774fc4530d phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d19556ab-ed41-4a8f-876f-c252e68787e0 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d0bace5-fee9-42ec-b319-ed025c7100d9 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e53704e-fa2e-4bb2-b5a5-7bc9ff40488c phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:78d82f58-bbeb-4ef6-b804-a60bfaa1bf26 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:66514073-d6c5-406c-9cae-dfd20d5c1ada phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:018bc11a-59e3-4e0f-8300-69b0c5bf4a89 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7c00e4f-db56-462c-9d1f-dcc6cca5d118 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ace17783-bb72-48d9-af08-53b757ccfc33 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5cabe3de-ee86-4520-9e1e-c75611e5cb1e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5a5c1d76-9f9b-4ea0-89a3-ca9c39f43185 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e13d28d-ec39-49f8-96aa-557f84565d50 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c78e4ca9-d4ea-40f2-abef-b67fb3761079 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:faaa3cd3-5ae8-4633-bef2-dcfa5f2ba362 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:90cb2e6f-1fdc-415c-b8a7-ee89a2a45a3b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:22c3fd89-e7dd-48e4-b6b2-615c9e9834ed phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ac0bc1de-6cc7-4bc1-93b1-9f9d92ae2944 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e759b34b-f7cc-4d48-b752-09716a3588bd phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45326686-a801-483e-be6e-48e34178ad6a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0031951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d92e2cd1-f520-4aa1-9ac6-e03fe329b20f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:597cc143-e987-4dad-8609-fcba761b6be7 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fd37c9c-94f5-4484-8fff-8a42b46c8547 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f399a72-6a2c-4b5b-a5dc-f792b3d55c80 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f91d5d9-0976-4ce0-88a7-a617fba8ef76 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0008765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddb9e473-1145-4517-bae9-99edbfcefec2 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af8c02b1-ee2b-40df-95f3-e48d1dee3ee4 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:916699a5-f3f6-4a84-8e1d-29e647d09f6b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d8f57b5-d6e8-4bb7-ae92-4375922a7a2d phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32884229-a0d6-45db-b8e7-7e13a41835d2 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:501732b1-2fd5-49f6-af59-d7691f78c940 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2497c978-e02a-4e93-8fca-7b98b8fc4d25 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:667b5d4f-0188-48ca-acda-594bd7f10099 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7adf0fe2-ea12-42b7-8829-a484eac46fdf phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64253317-2cc5-4a6d-a683-248673be1410 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02ead33f-26b4-4acc-aa29-b7633454c1a1 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cc2f5d48-f5e4-4c23-91aa-d360d2b14325 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3b0b3e57-6608-4f1f-810d-c5a6745e4c39 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e81aa6d9-1f9d-4180-995b-960e4a9cefd3 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ecb77279-a6c7-4212-acec-67be628e2ace phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37e58f7d-aaa0-417a-9890-9f86f2a18330 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6fc11e9-a25c-4158-aa67-2de721e33b8a phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23043171-6d36-4777-9b8f-5a837156dd2f phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3a9faa5-b15f-41b7-98f6-7689d28c16b0 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc4b083d-51b9-489f-83d0-e0b47741d1e5 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:141c0e48-15fe-43d3-9e51-c3f48672404f phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:70970842-01be-45ed-8e57-8af63f30edf8 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:03675389-a524-40b4-be94-a7adf935db83 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e139011-fcf4-4a27-ad71-216fa3c1fe10 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4270698d-2fec-46f9-8d85-06fd29afa199 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af3a00e0-908c-4037-855e-786609256a3b phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac572ea7-d2af-4bf5-ba7d-b1b4a0eb70b3 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:562c9f34-3960-4416-99f0-5f53e6a48bca phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cf0c309d-f199-4890-a5c4-ef402cd62386 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f3a5cf33-e7b1-47ce-b382-17ea3d5caa92 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d426e17-9ea5-4ee8-a2fe-3baa6f40202c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2976e98d-0569-4d7a-82cc-e06a00ee226f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3bd7a710-6fda-4f44-9219-349ba0d962eb phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4245fd5a-4eca-4963-97fd-4a74d39b7132 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fae35807-2218-4370-b765-ddcb34366ef7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:81747094-ad15-45b3-9cb3-174297c158c1 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:93b97ea8-639f-4455-b55b-2d47cbed4b4f phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a465535a-6875-4514-b4e0-7732f27681b4 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:531b81a7-fda3-447c-8697-d335fa850aec phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b784173-1028-49db-b021-70dc6cda2a14 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23ad9d3d-5636-4df5-90b0-27b499c70476 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e953b9f-2a36-445f-98f8-080ea37d2c37 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3f7f3d2-551c-4908-b9d0-98db282e8cf5 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c36b54b-71ee-4b4a-b242-017f591e2077 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1335e91e-54a8-4729-a8c8-6fcd7202b664 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:38264ea3-4dde-4cad-a113-6ec75ed020e0 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:57ff5e9d-cf12-4b4f-8cc6-aa5dbfe77bd6 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:318ae9f6-69bf-4d01-9b9c-0b9350a91bbc phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7f7fc07-5e55-4603-9eb2-01549ca71233 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e78af52a-3e10-4bbe-9e07-f590e8d9e479 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e049561-37c4-43bb-abe7-9c94db62a976 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ec34a441-802e-42a6-84d3-286bbd33cd2a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9fac0833-d778-49a6-b21a-5cbce93a1a9a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P28 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:793107eb-e261-4a4f-84da-7c6ecac3e277 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P28 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d55f6ab-2617-491b-a284-2aa5c4841088 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P28 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ada07449-eb1c-4888-9095-6bf0fa20083d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P28 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5c1b893b-52ec-4489-aaab-41858e7ad12f phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1176 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbd23345-c648-47e5-b147-36c61f01b0ad phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1176 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04b1da59-5a10-48b0-a59a-3eb2818b6537 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1176 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:94677110-c9e2-4466-b31d-47326537d08d phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1176 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c24cb533-11ab-41b4-b571-e3d80df30dd1 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1176 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e14f48c2-ade0-4b5d-ba0c-0367ec5c887f phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:901d7445-7324-450a-9c36-e49f09dd5f66 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1cc3605-4742-4e60-a913-a0667b7051c3 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0011195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e15062d8-0475-4009-9828-08ff1668a045 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14ae4d95-039f-494e-a92e-547fa306cae2 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:430df247-a39e-4ed7-bb47-452425f84055 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0002793 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00cf482e-7a70-47b8-9415-e4c445820b0e phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:769662b2-8457-4ddc-8e8a-87267c0e5877 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87099f45-f94f-48ea-8729-b2abff89bde4 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ed47eb9-f129-4129-8df0-48354f11f39c phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2cdbb195-cf7b-46b3-9921-317db14b0a14 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a682fa09-b014-4659-95ac-c8d6292b02bb phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddb0f448-f337-4153-a94f-fe663054d7f9 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:85f974b3-6700-4617-849e-0879fc86d536 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:91dc8bf3-9ec7-46ad-b519-718dc708cb6e phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:15fd906b-9ed0-42f3-91b9-055fbfca138c phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0011174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e45c7aa3-8281-4d71-8ef5-2bc0e79ba470 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7362f6e5-f436-4fc5-ab98-3cde83707180 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20ac57de-ecfb-47ef-8c9a-b9265c428c70 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8046af3f-961e-4546-9847-7875bcaeb775 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0011204 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:673dc04a-e2b7-467a-bbcb-9b2e9b677c4b phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0738d536-0c61-4d9c-b76c-2ea27315c214 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f1590ee6-15f9-4858-bfdd-6aff2b861d1c phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0002500 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d8d4f3b-f9c4-484d-b126-d1d1ecd604aa phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:912311ec-9fa7-4058-bfbb-2d2128a2b9b3 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2ee257c-b570-43be-860d-2294607eb5fa phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2beb390-5b39-4488-9b3c-f93f88563a29 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81e3fd1b-9225-47d6-8e8f-556fed533d07 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3df87151-51f1-43e2-8dc5-30e686f04130 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a63b13b-8539-4d01-8ef0-863469724abe phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f5174e3-08db-45e5-88e3-bdb2ce2d0880 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd2054ae-cde6-4c9d-8b72-1138f108386c phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3041febd-469d-4095-90e2-9d9fd7dd5882 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7129d230-5289-44e7-99f9-71d249fa69d7 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:432de38a-02da-4c28-838c-881fbb331a5e phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3e854f5-a5ef-4219-a06f-a7bdfe5c5ff4 phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d6d1c2b5-8d85-4ea5-9fa9-b988b31fe0bb phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2e9a569c-e9d6-4278-ab2a-5910efa6eda0 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8499a34-0038-4f1f-8dff-3a49bba08cb6 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_phenotype HP:0007376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ae9e7a3-b223-4cb9-ba2f-d550aa4e1453 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:96cef8ef-286c-4928-a87b-e506a57dd342 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e188c82a-1853-44c9-aac3-6125c0a8baa3 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44f4419e-51b6-43ac-a5f2-27cc3ef0d62a phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:75ddba01-18c8-4320-94f2-7869a395eea7 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2fa089c0-19d1-45f1-bfdb-920162ecb0be phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99a52077-6789-4289-87bc-bbb16880181b phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4b35802-f68f-422b-8f70-d5206a351dc2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b668ec2-423b-4d5b-83a6-dca98ac59afc phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c4b6e681-2eba-4ba4-9896-69bf2f61d4da phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3065d1d9-f6d8-4a5f-a4d4-2554e48adcf3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66a99af8-e814-4533-af64-74e7dac6205b phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:788fa583-8e4c-4f53-b26b-d8bfdfbf0122 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8670a01b-7149-442e-bf6d-02e58d0ead63 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61bd2d32-f39c-4949-ad34-0286bf676276 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac339445-d069-448c-a2b3-a4f923509c07 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:affcfb06-eb3c-4e35-8509-10a50167d731 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3660d489-4a7a-4814-bd06-85ef8f854a4e phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11586ff5-24a3-43ac-a134-bc12fd8a1d55 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6b1a7ff1-03ac-4980-b10b-fdd74d98c7e0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1339087f-67eb-46a1-9dcc-30f8e09267ac phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5a4263b6-1cd1-4935-a9ae-91ca34beaa6b phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03186f72-6c7f-4f08-89a6-7732b11deafc phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9e6d8e6-cb3a-4d84-8891-5652c1be0bcd phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:618628e8-158f-4907-89d3-a9889c913419 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc8ff4c6-6d93-4704-b0b9-49f6df4fbb6a phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0bb7c1d-711c-427f-83ce-f0f8288de8a0 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2fce244f-fa85-43a8-b479-7b6ec0ed8086 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28cf219b-e4a0-4829-b68d-fe2dd3ea6bf0 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f46f632-a449-4300-a2db-64a7c4b5d2d0 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4b6a70d-be07-4e34-a94e-1ddd40326247 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a4e04cb-7c91-476a-b185-5fbef5cfbb1c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fceb0344-3219-437e-9042-31d0f21a3ab5 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:93e9ab20-eed7-4968-af98-41116cd57e38 phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_2 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc68c603-05dd-4723-93ab-e49fd7919c97 phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:50aa39d5-58ce-4c54-89b4-4b9ab357ca26 phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0072b31f-668d-4152-9584-c0243279b396 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5747aaaf-d36d-4758-a421-aad20956552a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07dbf9c9-5a2a-4518-a3b7-846eaa3a70cb phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a8e9d7d-b6e0-4eb1-862c-341ed5f96d03 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b27574d-5db2-4e54-8748-f7d6686f26b4 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a965f9e-6568-4261-8bba-672b0dc82f15 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1798c374-087b-4001-8d14-4c223a54dba2 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca0bb701-664b-466a-a299-f7ef382806dc phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5ca5a32b-4ede-46fb-af61-d430ee5a2e35 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:120a7595-b66a-4da8-b001-4ed024af9d90 phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e187b974-d888-414a-92ac-fdcafa65ba8d phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c00520b-3b61-45ea-850d-9cfc49340922 phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a7ce522-d54e-4979-811c-a5a188f08c51 phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f43eb067-84e4-4397-8b0a-60dca3167922 phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7832a570-af3e-40ed-b20c-8e8e55748f9d phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:791d8826-3232-45c1-8d09-576305b25dbe phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9670bf91-0e3c-4e54-a823-bddf121eb9a1 phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d43aeba5-36ec-475a-b948-9aa342aa477b phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1c98fa6c-0a4c-4bde-812b-2cf163b6edb6 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5697216d-f787-404b-938d-5fb45fcffb0d phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a95f604-b84e-4c06-b63d-88c8eb759b37 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f65e924-7809-4ca8-8c3d-c37b6e90f415 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cbe8a3b5-b090-4e20-b1b1-0f745db3f4d3 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d452cb44-6e8e-4d4e-9b64-bc54cdca06b8 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c78782e7-5fce-47c3-9c4d-6b156dd4e149 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7803022c-3bfe-4f01-beba-f6d9b950b37c phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0012704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6124ae1d-0843-4aad-b5ca-fbcfe4f687b3 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff50ffa4-df47-4752-9ede-fec509ec5fa9 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b35bcab-b6d7-404c-8b68-a0e3d821ec24 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55abe949-9564-4067-85ee-91fc2401696f phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3dd28a04-3f19-489e-9267-d80066eb5c2a phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b03dc960-fae1-4736-8f5f-a02012cfbbb0 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:533fa433-8fdc-4a6b-baf9-9e7a28639768 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:18829ad4-0b31-4c63-bcd5-58499d5badf0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:508edf5f-09a6-4563-83d5-4a20b4400d59 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b42c69d0-48cc-40a2-896e-e68010af39be phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3109e70-03b9-42b2-9021-0cdc8ea24762 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb69bd0d-d850-4c92-ad1b-3720c8869d07 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92a605ff-374f-4bb6-8908-046f804a9add phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77aecdeb-1038-4883-baeb-238fecbdfe77 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e351e484-e690-478a-940a-41c1d946074f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43e7fbc3-17ac-46fc-a79c-6c5cedbf1fe2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ecf35250-a7cd-4f60-ab8c-b9689cf93fe8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8a420b6-b217-4570-846c-fc15cc288234 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2a8d6f5-579f-4002-a476-4681fe4d8120 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1cf40f7-89df-434e-9bfd-4206f2f3ff91 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f23d2624-d132-47d3-a534-51846fe127de phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9ec1e5f5-7d7e-4125-b908-16d1ad44e53f phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22cb9770-be33-434f-8c3b-1e224f4554cd phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39b930d3-4062-4133-8b0b-e58a1701eba7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8447adb-da39-49e7-a612-2bb37170b327 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:edd1965e-6dae-4cb8-b429-9c747d2929ef phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:574d0373-6eaf-4f84-bdc9-10cea473a048 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a57bc07-ef9a-498a-9167-3bc9c71b30a6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6da5e490-b589-4c7e-82ca-3ca1ab42b6c4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0009062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ec82003-9ec0-4f16-b600-b7b44a442d5f phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f76ea6b-f660-4b23-81f9-819df15f5420 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95b97850-300b-4d3c-8d0a-8c5624a2f106 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f71a468b-bf5b-4540-86f0-d64e09abd1c2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08ebe77e-db96-45de-bd33-f01789e20a0c phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:50cb404e-7255-4e37-818d-f100de71fb37 phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:13030960-21ea-433a-9b68-4e4215741c3b phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c96d4128-9b38-4650-a27e-48234ff98bcb phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b6a32e8-2eae-4894-95cf-207f0435f9f0 phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1689922f-755c-4abd-b84d-3e5fe0b23a0f phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c58e2a64-9d4c-412f-950a-7b1f87573e0c phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85f2045e-441a-4d22-a900-fafbba33bb52 phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78817c6f-154b-433e-8caa-05845371b267 phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a56f9ef0-cab8-4d78-8fb2-437433f4bd78 phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f6064f6-2665-44ef-af0c-265058a5446a phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:199dbd6d-7046-4fcc-b0c0-48bd4c98e43b phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:89857f0b-7996-4180-938e-4bd500944729 phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:60733e78-37e9-4e2a-bfc2-52a9c0f43a52 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:707cd1dd-992e-492e-bf73-1d5fa85ab9ac phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cace03b-9cb5-43de-bbcb-49d7b051f175 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09b2478d-21ed-4151-8fae-94a22c824c83 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08f627b9-6174-476d-af9b-91fab8265197 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:026ce6e2-e80d-471d-964d-fddf97ecf8f3 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4f645de8-4b22-4d8a-afd3-ead35394f3a5 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:886161a1-1097-4b8b-ba00-f122d8602041 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d4336ae-5eb9-416e-93bc-a44681302636 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0007328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:701c6096-5fa4-4a7f-b05a-68f908820cbd phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9f1d6bf-3163-4951-af63-9ba726a048bb phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed6e04b3-5e04-4806-80af-189ff0aa216d phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d0329757-792a-405c-baca-fe9bda463e1c phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5623d54-98d8-488c-acd4-077fca75dcf1 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d2ccf3a-28b4-4578-9243-0c4cbfa7d6b3 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f3dc01d-461f-4a9b-87d2-1f7a56855559 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:240f8ee0-7bed-42ed-a376-99c34efa52b2 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b4e6be9-47cc-433d-8da7-5666f9faef6b phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a4b2d9e-1e36-4182-9463-5bb451860d45 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0cd4e344-2790-44eb-8f5c-4a2e1087eaff phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a8e5128f-4f68-4f60-a22f-a1383357f7e4 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b72088d4-634d-4ebe-a350-bb173be42284 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:811e5c07-f228-4867-b38f-6d0da0cce1ff phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce377b8c-64e2-4d6c-afaa-14afdbd5c43c phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b51ff0d-ee8c-4a71-af21-680fe87cb5f7 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d3a695e-8dde-4342-ba37-776b9643ce15 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:babe78ef-6b0e-4db0-a1d2-0eee280862c8 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:130a2e38-7e39-479b-8b07-e42079e8fd5c phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa8f5f2c-998b-4839-aacb-8ed9475b6f69 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b1d2c1a-d23a-4aab-87cf-75822fc9e117 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d4e7dd7-531d-42f0-96d3-ff43bfda7386 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:dbe771ce-8c38-4293-9227-df8323fb2541 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e0eee46f-86eb-4ffe-aced-417718bf230f phenopacket.store:STXBP1.PMID_35190816_STX_27779742_131 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02f25a07-8f6b-4ad5-9b79-fecf69d7ecc1 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_131 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:821dcea4-305b-4b2c-946e-fcfd1851ef32 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_131 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ef2e3cdb-6807-433d-a18f-5c05e484bc8d phenopacket.store:STXBP1.PMID_35190816_STX_27779742_131 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:839baa27-0236-46dd-8f4a-06c3a95275ae phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P8 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:65b48c92-516f-4390-bb26-4d3e9ed1deb0 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P8 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc4579d1-1c35-4ff6-9756-298aef19ed71 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P8 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5a2d949-60d2-47b0-9b05-3dfc1a9502f4 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6069213a-123b-46b0-a2f7-5c21106a266c phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4ed58002-640c-49a5-a202-5f94bce2ff5a phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b21b8a3c-8b1a-468f-93e6-f78a11e8b67c phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44fcdc44-c9da-4bdd-99f2-a0ea188e5a31 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:742c61f3-4826-4dbe-8892-4d4163343fed phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddc3a02c-1175-4b8d-bdb8-a8ee5c0c8aa6 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f23f0c0a-52e3-4652-9748-075d2621e6fb phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97fec5ae-ce88-4e68-a8be-0eb6d5057ee6 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8ab4304e-46a6-43e1-a13a-4cb3affe44a2 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3a7b333f-582e-4698-a60d-5fccd07349f3 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb7c1cac-875d-4963-80c6-23bcc834e96a phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6398805c-85b7-44e5-af89-34506712f5a6 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1131db1e-2f79-4657-8c71-0ae6f49c7329 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ea4725e-9586-4dee-81f3-cb8d52528342 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_phenotype HP:0010847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c043ed8-059d-47f0-aa2d-1254cac0477c phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6037bb69-9d08-4cdf-b322-642a78ca77aa phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d224eb1b-7dca-42fa-966f-6310f9b5ce64 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d04d0fc-9dc8-4246-9e3e-a8d25dde5226 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0032755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a62d4fa-bfa4-4b30-b794-524ad537fd10 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6426596-b368-4a08-be23-b18759ffbedd phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7940baa1-82be-4f3e-bbd9-1b5dfa61f30e phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7121c733-5f7d-4d3b-a99c-a0df37da7311 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:018b5bff-5024-4656-ab35-2ec99e485be4 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c377e13-5694-49df-ac51-9d926d0515c6 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:88cd343b-f5d6-4021-98bb-856f601d55d1 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d9f27217-cb40-4875-9aca-b6340706da4e phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:51c1da87-a660-4383-8a7b-efac6117deb4 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59b37ab6-29c2-487f-ae7a-991bae47ee56 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac9d9461-6986-4792-9490-667e1386ecf0 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b9c36785-c4c7-419f-96a8-1c6d7230ceb9 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4a59711-f295-43f0-bd35-1709c5bc53f1 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a6cb54b5-2b9e-463d-88d8-71d6769ceaf9 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e85181d-8efb-42e4-8bf5-bcb5ce05691f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f77583f-16ad-491c-a600-19ec115f1178 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec65315d-c6ce-4075-af5f-827951c574ba phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5254718-76c6-4012-bea1-b80c5dedd13f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efaa53b8-9dff-4110-bbc2-ad2733551b7e phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0100279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f29e981-0de8-4e7d-bf9f-961b12839481 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11a28cb7-541f-44da-978d-034bdf5193c1 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0000011 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30596d6f-68e4-4c69-befb-c55c33c6181d phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d93fd271-a05e-49da-af73-36d45f927618 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_phenotype HP:0009027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1b35bd9-8063-46a1-9eb9-62758cdd8b48 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e1480356-d476-4942-837f-c1da0f82ab2d phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4cd95911-6cf4-42ef-a0d0-122725f2601f phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:329b9f26-f16c-4315-9ff5-42f4beebf3cc phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:976569fb-fcd7-4234-ad6f-3d9936dc167a phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:781ea769-d9f9-4c55-b95a-ed4a2683d12a phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81cd574a-3ac9-4b2b-b585-d1abb81f42b3 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:253cabf9-f6aa-4280-8380-9ae68e41923b phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0587d42-317b-426e-a07a-a69faf8580e8 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce3c84cb-37aa-4cb2-93de-2ee12136b829 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bcba1dbe-6942-4c84-bffb-afc77512fb53 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cbc6618-2ce2-4749-ad96-43d3d0b6729f phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5d413dab-2b69-4d25-8906-60b14f64974e phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:beca483a-f3b1-4f9e-a9aa-80dfaaca1434 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3c1ab9f-aada-426f-8d1d-cbaba3a1fc69 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5685014b-4ec3-4021-bcf2-d04d82577665 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e167901d-8618-4625-ba17-e7840c377e95 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9ea7254d-9be5-4ab8-87b9-92f67f24dd95 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0007183 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:491222b1-5489-4eb8-88cb-07bbb14be77e phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3010faff-8228-43c8-bd93-2c0736d5dd26 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83dbd8b3-6292-4598-bd49-40a176526d5c phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4c9b3852-8f57-4072-99be-a253dafb8811 phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:338fcd79-bbb7-4959-a1fb-6d241d4fbf13 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b67882fb-dfa3-421f-a8c1-91790141bd9b phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e36175c8-f2c4-42df-b7c8-84d8b0f557ce phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4eaafc89-453d-45ac-8778-aaed9e99167b phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e96c6cc5-6489-4b05-8a00-b18f9c4438c1 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3054e54-479a-461e-ae58-404f2f2bc523 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c44ebc4f-1680-4a54-85de-28dd45aa7271 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4cccb016-ec22-4a88-8e66-9e682aa841ca phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7dd75469-d7d7-4948-bb61-3affae5539fc phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e798eb39-ccbe-4e28-936c-af32ac01c92d phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfbf7139-0d41-40d1-a887-72803a323237 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4502cafc-53fe-4727-9347-e61d6fe80f5d phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bed2b3b7-328a-4fa6-9f70-ceff8781b624 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:891dc7a5-47e7-4b54-94ff-0ddf598c4fef phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60372e01-174c-4dec-abae-ba5028f22b55 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0248844-7c26-45f8-9e43-b0f76f2d0a16 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b1609bd0-939f-44cc-8151-557063d03a27 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e2e44f0-5cdd-49a2-ac82-b9d97bc034cb phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efa3d317-fcfc-4989-9e5e-fcaef7e0e325 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e8ef966-6c0f-49e0-92a4-d3f4741d865a phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c4573ed-64da-441b-a352-0aba8be0cf46 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd2b3bde-669c-487c-8daf-98a2d934ddf9 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd39085f-49cb-496a-b16a-b9eda6a197a4 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fae03507-68b5-4c3c-9cc0-4f66196350a0 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72656bce-4116-4f6d-a44b-7e586aa930df phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3d6b198-6ab6-478a-ad2c-7a997cf2015c phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3eb08ecc-880c-4073-8e0c-da85a6fdea16 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:929f82a8-ba0d-45e0-abbe-c8ff58b35697 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0011210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5624739b-02f9-428a-b688-104fb6f11a59 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8c4afb8-536f-4f00-b723-20631bf6d635 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:53f22779-3f8a-485f-97c4-ec791bc0d6ce phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37fa3006-d3ea-4d02-bff2-caa31a0a8443 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0df2ad8a-0e59-4a37-b040-04f8459b809c phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c381bb32-1192-4d7b-9ca5-c1a9f73b33c5 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1c089f4-5ee8-435f-949b-b256a4d45aa4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac01b915-4265-4814-bff4-5b4a943ffe0b phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ef2da6c-c855-4a85-8379-e56007761db3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:01647e45-9869-4513-9d76-30814d40f203 phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:738a7355-ac4b-4073-a065-a4b1edae3e18 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bbff3654-d5a2-4cbc-b37a-02971b9f15bb phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87384184-ce7e-4b3a-8dbe-a302400b1176 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab5ac64a-e8ff-4729-88e1-29188e28293b phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e46e777-fb66-4b4e-8ffd-501bee8e4dc0 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:629dde9b-9b84-428b-a5f5-6f50aa7bbc05 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f9d82d0-b34f-497c-aaa4-27b07e810ea7 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:86ea2375-dbd7-4dc4-af39-d3f229897078 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6ad85528-17da-4bc2-ae6d-385f3fea1b70 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ceba2c1f-ba97-486e-92e7-f0d62622091e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24f47b0b-694a-4cb6-bb9d-98031123a9f1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e3bd130-c33e-4ade-acb1-96b854c6c68e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:479c441e-bd26-428b-941d-b15a5e5fcb2a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c8196e4-f568-4328-b2f5-d5fb0c9e7151 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31fc0920-40d8-41de-8d23-c069eb4c43a9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ad7cfb11-1c01-4664-b2cc-7f30f16f2706 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d65ac25-0ecb-4a4c-830a-22f264e1f104 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80fdb4be-7fbc-4e2d-8699-ffc84e6dd975 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0530aec7-e710-417c-aed2-fb2d4e37191e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e11a9f6-51cd-4f25-9d54-c984dc52722f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4c50c01-d2a6-449d-8269-475dbf08ed4f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85898c9f-2948-47f6-b764-8bac62b96815 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5d24b8b-d0a2-4fd5-a8ee-8f0921991277 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:42cdea25-857f-4012-bfef-4de3ed00d7d3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:40b84e08-b5c5-429f-bf5d-174a3f5aad86 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8935f7dc-1945-49fd-ad55-b12c27ad1646 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a4c4a3f-2c18-445f-bc4f-d09c8a7d3dd6 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:506b8f2a-323f-4129-8787-4cccbe15efff phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0007069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dcb215c9-faf1-4827-bd51-821d61f09c1f phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50c66d64-ab59-4bf0-83c7-440ff02fd463 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68e5f714-8c8d-4959-98ec-6f71fe5fe251 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6afb16c5-55a6-4a9f-8cd4-e0af1003d46e phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d254871-c6f9-4932-95d1-e2e5932aa4fd phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:582d6709-32cb-4d04-a505-1d93a78d0c4f phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c668939-3058-465d-af60-307a90018ff9 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8cfdf467-a006-4bc3-ab5d-f27b504d8bc1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82a28a71-f6f3-41bb-9224-21fa9ddc1174 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:34e6f9ca-fe8f-4fe4-9a2c-c289cfd76f23 phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a3c2004b-4f57-440d-89fe-c757fb4d01cb phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ddb9f89-667c-477b-9ec9-39f17b5301cb phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfae89de-b83a-4acb-85ed-a0b63f5a7f4d phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c290ad9c-4d5f-4013-9a10-5999003c4880 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e10bbdb-a048-40e4-ba80-e3c693edcb41 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2900c1b-e172-48ec-bce7-5537aeb43e23 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13ce6fa0-0369-4208-a1d6-ce2a6aa8d2c8 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f2495f6a-6405-435e-be80-37eb35a61211 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2a64404f-712b-4bda-809f-8fd1778e2017 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:53d137f6-69ab-4d1b-a67a-10facbd03bba phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b42e230-29b7-49e8-a5b1-c1f0ccfc6ce8 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:856f6afc-8d0a-4db0-b7a1-7ecabed61cee phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21593b51-0cc1-4435-a380-74f0134a584c phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d29c5f15-afc0-48e3-8862-c5052f312227 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:670dd840-262d-448b-9cb6-97714b12262a phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5122f5a7-6a9a-4a9f-83aa-ef2b0d952740 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ade1016d-ee19-4609-87c4-f8284297e483 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c2c16ea-ba97-4a1a-b5f3-69cc12d77395 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95d72f34-dbe3-484f-a664-adc15c4dbd42 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17a402aa-8fba-4b27-9464-d62d62510866 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42e21a5a-6274-4313-94f3-c98f1d38d1ae phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:485722c8-e262-49b3-a22c-76775899cd95 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:020f339a-4b1c-4584-a9be-38279f21a676 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:85814f4c-283a-4b02-bee5-769146c81731 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ace3a00a-ebe3-4d12-a119-299a58bd359d phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6846a8b5-9185-48e7-8458-fbfc7e5aebef phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9742fbf8-f2ef-43f4-9b5a-053610367518 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a42a921-25ce-4ea3-a8bc-17b657348407 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdca6dd9-312a-41d1-bf26-827a666676d4 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:caea63d7-69a4-4212-b189-cd5f96f085e0 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6300a62e-8d77-46a9-a30a-bc4920dffc37 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d62891f4-fbfb-446f-8dc7-c91df03457c5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb0c0e66-f859-4c58-9da4-1a672eb1dccc phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48bada33-0d8a-4379-b081-7f3126846350 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37a31cbd-d107-423e-8607-85832a4ecd5f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3b56283f-de46-496d-bbf8-15f25e09014a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13c3a4cd-15ba-4b96-b667-3fc3b04d644b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:94f10116-8542-4de7-a646-a8778205c890 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfd418b8-aec2-4f7b-9495-128f79946dca phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d6dec52-d30d-4fdc-85b4-c54717fcbd57 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a714a0d-2143-41c7-8aa1-8373a764147b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d24c904e-759e-4f9f-b884-66c4e1b8660f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:83e851db-bdf8-4dd7-a20a-47933fb4bffd phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0032755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a07d128f-816f-4b4e-9e55-2ce5a9a9aa6e phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56fa07ea-f49d-4762-9822-6cd8aea1a1d2 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7868f394-db72-45ee-93cd-055df48892fd phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a72e9e65-6c87-4b56-9931-f2356a4a95d1 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0a81781-db60-4657-add8-10cad4d2cd41 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51e49b52-83fb-4743-b8d1-9adee77822b3 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef0b3f92-89a7-4e64-9585-be2cde542dda phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:568f7722-b403-49d4-8cc4-8690b82a717f phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a87c2923-e44b-4a94-a8a1-6bb1e39ed3e9 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:820c8836-3c28-48b8-a815-fee6084cfbcb phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3c94d204-9d49-45e8-9d38-bfb0117f7071 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:37a32b4c-f35f-48ff-a09b-14440649f282 phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4f736c1b-0a65-4b50-ad62-280dbaa31764 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3f3d658-fe47-4f8c-82ba-519301556f32 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c01e0637-abbc-4b0e-a64e-e5f3f93399bf phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:985c2199-34f2-41e8-a5b9-85f2a1efaf74 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:173efc48-bc04-4f08-bfd2-0e743d798e06 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cae94b2b-5bbb-4c80-b424-10df2ea41013 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac889790-9f3a-4b7f-b2ca-811a97d70dab phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1ad2304-7352-4dfc-896d-6864686d90e4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b25122e2-a171-4958-96e2-c9db29f672d3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0012583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7000ffcb-6b26-4ee0-a66f-920c485a5d86 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d42ed1f4-fef3-40d3-b032-2354ea4d0224 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89a0bf36-0a1e-4ca5-8ab6-43c7ee7e246c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32b29e7f-6024-4917-94fa-845af7c1f90e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d59f835e-2d5a-49df-82ee-c4c77baf085e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0001747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c68825b8-df18-4a0e-8f79-0151c72f8b26 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e53e49e1-1d8b-4108-9d7f-4ef719f4d57b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0010844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:84c45a65-d1c2-414d-9dde-db711996872f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89347429-050c-41e7-ba35-f801c16256f9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3c5832c-b504-4864-8012-bc07a0691aee phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26e8e9bf-ae6f-4a25-b191-5d5eb81e5a2a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0031475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6821bd8-6304-4193-bee0-d4d5596f3737 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d2208e8-872a-459a-982c-ab3a15625bc9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7390c34-5b66-446a-a0a6-68fe850e1929 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:36ea7a77-616c-4c88-b825-42a80752fcb8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af7d1ceb-2f54-4116-9968-24c800a1105f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6db72561-d76a-4417-8d91-835df57c3543 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1aaa9bc2-6541-4406-ad1e-f19cd1391439 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5611d3d9-e389-49c6-9d69-663bd5a1763a phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_5 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14f03778-e7f6-4eb7-aea5-cd6e2e6857e7 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d13f66a2-eb01-4c62-a2ce-3affb37827d5 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:faf95ed1-7428-4ad6-8114-bc021462de27 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:02546568-9a88-489b-a12b-2d5cbfe7aace phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:20448dc5-2c6a-45df-914a-bd6bfe3d8942 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd6c3d4b-3d78-4ade-81c2-cb282aa405ea phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f620abca-1ce7-4608-a0f3-3b791cff5d9c phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8e15ce0-ca72-4b57-896c-ee5bf624c54f phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93e19639-fdf4-4ec3-a675-1c5606c371d9 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0012766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3485302a-d9da-4304-9865-34df9034393e phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d5b1bca-4d20-438b-9481-d3fdd7da8c90 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e460d79-5049-4c5e-956d-d92ef266b072 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6d47e4dc-0a2d-4ff6-b8a5-c3b3f07b132a phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a5c4ae2a-431d-4d29-b283-de0b1091a855 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1831e676-a841-49db-a136-21eb86f977df phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f10630dd-3668-45b3-bef5-2238c682ffc8 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41a0b70a-7bd8-4f5d-80ab-6b75c94f288f phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:987b9642-bed2-4c53-af62-5260c2eca9d7 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4093ae32-2b72-4ba4-8bf3-966dd0c2e437 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e37d872b-ac47-4ce9-abea-954f8d85ba90 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3f25065-3c77-477c-98d8-567d7a3c28b7 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0081dc8-f3b1-4a8b-91e8-0eca996da463 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c115babd-6226-4776-8f71-3eb89251fa9e phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32b0c4bb-ab13-4cd7-8257-fabdc5b257c5 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bff5d08e-8c5f-4c3a-be1a-2f6f3c883865 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0012557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba56eeb0-dfe0-470d-bbd3-aa9ff6f30367 phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:65b0fbe6-c07a-4533-8bff-6fca9c07e3db phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0817212e-67d5-457e-bf66-1d89752b4a4d phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d7e5d79b-75aa-4eed-92dd-68e7eba99ccf phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:23a362dc-3347-4c10-846b-d5c3e6438066 phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:105d9956-1f8e-4b49-871f-df01c1082d30 phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d024c09-0269-4f20-89ef-eb9b9682d3ca phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2adc7d79-1c10-4a14-adfd-be0053510192 phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:afaa9dcf-c007-4651-9282-cbce36295792 phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c24f4ad5-48a2-4ba6-8adb-b43e3b2f2ced phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5ffc6984-ab7a-4a12-af1b-635fc932594e phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a5ac36c5-c626-4a11-ae8f-f9748322beba phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:66d66710-8e8a-4b29-a88f-c5797c720c75 phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e651a46-9c68-4bbe-bd63-8c32ab411cb3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:910d40a5-00a2-457d-8065-7bfecd8a01f2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11c5aa66-b754-4454-8e34-ed6e6044ea33 phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:445a53d6-1a4f-437f-97c3-4057be9b356d phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5c34763-14c3-44cc-a8a4-4f0fc58d2d8d phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:50d7f484-53c4-463d-8df1-de2a1dc4a20e phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:18cd3948-4fd2-4a2a-a4ed-be21a6a0d7be phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:069e55b9-5148-4e93-9da9-57f09f05339e phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b54a5e2-a445-43be-94ba-4a80cb0a5c87 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:98b5fa64-9be4-496f-a38a-4017c3365db8 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85eb7476-7f52-472b-b228-926241aea410 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:df5c73e7-38a4-4f6e-a3fa-0ad2f5d2e082 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68a9b8ea-b215-49ef-acf3-832396dee663 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:305960fc-a6f4-44b9-9bdd-d5327484a43c phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ded04fd-6411-4c6d-9a6c-dd729d95a551 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a665193-22c8-4a00-a11e-bb168094c012 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:66414614-69b2-4595-8183-7af8d8975e4a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:482dc669-02c2-4c2d-b384-85f5a7dff507 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fca8db18-180e-4772-b38f-5001b359f789 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:facc9a41-38e9-4e02-823c-9827f04fb176 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec81bd36-a371-4a9b-a56c-eaccc3257a5b phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97f86c57-999b-400f-be7e-5c774f3d1f5e phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a27fd841-d14e-47f3-93c8-e67c859aaa93 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5dce3417-5343-4bbd-977c-8d3aa6f79d9f phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:946141e0-8e30-4c8a-bbc7-144176cecb74 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f6568827-f567-4017-99d1-25267d4a226b phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2c991896-cfe7-4f3e-9cac-fb9f0b82a166 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:afba005e-e191-46e1-9cf8-4927d84921c5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4707f75-d97d-4d9e-a6f4-232bc7f4b929 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2be4592a-7828-4cac-9217-9ed910aa0332 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:598da84f-b06d-4acf-abf2-e4a4255fa069 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0702446-bc80-49da-8bf8-3e38164e47d4 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9bf39c4d-e864-477a-aa63-bcb3dceaa46c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:289a9a8b-15b3-47c0-b782-649fe591b99f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b12d34c6-a3f1-44f2-ac93-9ebf9e2aafbc phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7767ed6d-bff6-4a1d-b4e8-b7149f2eaa74 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ebfefc2a-baa6-48b2-8cb5-ee520c0f8bc1 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:802a0d7a-7ce4-4b21-8fba-4c1fbb6ee4ee phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0e1ef9ce-2624-4a2a-9838-85b6924c9e1f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d3f67a58-2480-475e-a248-727d5b79f5ec phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:728e3ea3-55e4-4936-aef3-c96d3a03b81e phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a36934a-7e4e-40c9-957e-b27e1a11cae4 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:677c51a2-486f-46c0-a54a-d63409d9153b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32bbb069-acb2-40c3-8f0d-1101df791762 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5250fd1f-d3a3-4293-87a6-a068cbd1fdb7 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2486d736-ae16-4402-8dd0-cc669d6219ea phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:263920ed-2d81-404e-bbef-7680174c70a9 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4867c506-16aa-4650-837f-474b3008c2a3 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fcaf85b4-667e-4425-86af-201ffab667f4 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f928cb6-d647-4793-b7af-68cce49c74be phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11a73d39-298b-4d5c-a48c-70231f5a045e phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f645a479-13d6-45b5-a9f7-ed86feee74bd phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:257e6db1-7175-4738-b510-c173acb43e83 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d6fc94a3-d159-48dc-b359-2f56f9e62bb0 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:70c58390-6e85-418d-906d-a15bf56549a3 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8bcebc26-593f-46ce-adf6-b941962fcfcf phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f47d956-117d-4828-a9cf-fe6be444c153 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3c6607d5-6a05-4800-afc4-3152667c3100 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8226e36d-f37a-46e3-aa93-9737cb588c3d phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8903fa3-2f21-44c2-add6-c364990ee5bc phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc4e83db-2737-458d-a7c5-874902f660a4 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6810842f-668f-42b2-80ff-f8b5be4f0ceb phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:89e20e74-35d3-45f5-8d47-38144423472b phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30f5df96-a7a1-46f4-be02-8a9664d7c260 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6009794-6602-453b-ae7a-55560188d9ea phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc7b855e-eaf1-4a25-8a41-e79261747118 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:156b29ea-ff50-414c-9277-d0961e37e7e0 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4908da4b-44dd-4b7c-989e-a1ec504ef739 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f0527b3-811a-4b44-bf9a-57aeb96e9776 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:446b67f2-4f26-4e3a-9bcd-afe14ace9bf1 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8607a2fc-be9f-403e-b275-26e4da603d9f phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aeb205c4-9e1b-4729-91d0-1890aba07b01 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:47401637-f705-4dac-ba5f-04636606e473 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b9fc7a7-bd6d-4f95-9444-b216eb28b8aa phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:521fe4f8-06dc-4d6d-b091-4db902248e82 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f0c01666-017a-4cee-8be4-8c2ad8fdeefd phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:099985a0-7919-468f-abae-95c836c4ea1a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c88efa76-0b26-4dea-bb82-188e1b7e839f phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e515b8d0-7c85-4705-8c6f-dabba3a20648 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7a78569-d74d-487d-a553-a7f408dea65b phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4379793e-b180-4c0f-9a3c-bd8a3496fc63 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6ff67757-d39c-4824-9c24-05c0503dab0a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4b047717-a9bd-4af8-80bb-81dbf5fd405b phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab05e7fd-96c8-444d-815f-10a5dcc4c718 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf6cee3b-0701-4c57-8443-7b58a5f204f1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ede3dd5-366f-4f05-b77e-52f2f3c347c4 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a47954e-c61e-42ed-baa8-6f1d87355417 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a12b0ef-8b63-444d-95d2-ed83e62dab0c phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83138f46-37a5-42fc-a26e-c995af23f055 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61d9a10c-804d-4aed-a6dc-fc6e9adeb453 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37761ebe-58fd-44da-a286-05bad0c7aed9 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c106360-47f5-4b54-82eb-38615b3818e6 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:39b8676a-e387-4911-821d-7d1aa941a05f phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2a52d12c-8a87-43a3-ad1d-eb3e5da6103b phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0011175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73a260e2-4d38-45ee-83fd-4fd6838c6545 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef9b4d02-a47e-4729-90f0-36684b0ce3fe phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8373bab-3f03-4a2e-ae73-c43c2294deb3 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:309ee617-3c92-4209-942d-b89eb83eebea phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b65caef-09db-4bd4-b12d-405d058f116a phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81da54b1-b7e0-49b3-aee0-29e88c41e997 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8feef8a-ead8-4b27-b18b-9803456e96df phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89adbee5-f3c9-4016-b48e-5349e819035b phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48c368aa-5402-45b9-bf16-92d737e1f953 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e22d3b55-f148-452b-842e-149511bc7ceb phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1680b12c-3e3a-485e-bbab-b13b27f7248a phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:003b15e3-e4db-4fc6-a598-4a618445d39f phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:95742fec-75a3-4912-9413-dfa0ec611513 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:16c9c64a-7749-4f01-9c69-ae454ce4248a phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd3cadd7-6220-4735-9ea2-01cf630d9672 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f7bd1b0-ed1a-40b3-98af-f12853c02697 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0025403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b41a2d9d-19e9-40be-9690-adb42cea8c70 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bea61f9a-372c-4ada-a72d-6c0303d0957e phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f162014c-071a-4c03-82c0-c9c4a97185e0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8da485ef-5446-4d9a-a0a1-dafaa47b5324 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8c1fcc8-4894-42bb-a443-9a0c59a1d05e phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00ecc4c8-2dad-48f4-875f-45b419387944 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0007311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b28befa8-9e23-4788-ab6e-a427b6751ff9 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:90e5a04b-7949-48ce-a308-ca1b162d22cc phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:36a9b78f-f567-42c7-8dff-c3519326b583 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43d89f3f-f3fb-42ed-8bd7-d240aa19c80f phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4149e4dd-65bc-47d9-9adb-2b9f133c76e5 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6135d434-64ed-4599-8661-d484eef64a58 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a900401-7be2-4a04-938e-18ab29c6e14a phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4f873fe-c968-4a9c-bccd-7af400d53790 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f827cd65-ed22-4f02-b2cb-eab5187efa17 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e4f9764d-0ce7-4ea9-ba02-0de594894886 phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d5b2a8e-400c-400d-b74e-ae1096faa061 phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:702d16be-cdfa-4587-8117-98834264ddf9 phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39eb0165-7a86-4a45-afcf-9498c14439ff phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:671bc591-8c1e-413b-97cd-f20b3e5ddfc7 phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7dc74afb-0f90-48bd-810f-c41cf2268a3d phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5416d4b-b8e6-4b83-ab37-0c0b4ae09a2e phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6157e9d8-0674-4987-8031-570784f90daa phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b60257d0-9491-4b1c-9457-5ff91d251768 phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:340ea67b-9a2c-488c-9bea-be48fa21a582 phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3a93ccab-29b2-49d9-ad27-f72def8a94bd phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:94dd5f15-4b68-4f87-ada9-f1db6903e045 phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35a47a93-c7fb-41bf-9e62-d73fc53c4d0d phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35b8fae1-189b-45aa-8989-f7de87c379be phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8567338-37ff-4aef-b49e-b47f4b56a3f1 phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:47413811-bd39-43c9-a8ce-540d332fb29a phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:824f2718-aff5-43f7-afbf-5f53dd7f16fd phenopacket.store:STXBP1.PMID_35190816_STX_G3_P15 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c0b9d90-1df1-41b6-9a21-d7b05abd5124 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P15 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b8d860b1-bdac-45ad-a2d2-079b6258bb36 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:347e91d8-4d2f-406c-a930-f9f189232225 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P15 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fb5f0698-5bd4-4b2f-a461-1d5b89c98683 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P15 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7631791c-ef53-4388-8722-0bc40af135f2 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae7059b9-f104-48da-ac4f-0c1796ba974c phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d87a47c-1bbc-433b-a2fa-75c2de5414aa phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17a55158-dc4a-470e-a8fa-775a6626c16f phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67d3418d-d666-44c5-a33e-ebb23db75d55 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c619dc74-5c15-40dc-8538-3e47af591a1b phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0031986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a602d3c1-b3ad-4f7a-a0e9-69ac4cc8122a phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1099dd49-2e7a-4dfe-a215-0042212e110f phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea052a05-700f-40a8-bb20-e27324793059 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0030891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38cd2308-ff74-48b8-b3b0-6d43eb2b2c08 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d922efd7-9341-449a-8e12-4f07c76f4a01 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cef0196-ad47-44f9-bda3-da0837e86d65 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:007a6323-879c-4ed0-ac6c-89d60df36a33 phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e7455f67-13ef-4ae2-87f9-bc644da8b1f7 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b845a741-1850-49f4-8339-ae5cd5e3c97f phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d660c36-a857-46a1-9bd1-b72f33d426c8 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93317bed-ccfe-4950-99df-1617a1e39656 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:350e2fae-f9e4-43e9-84f2-0e3571de57c6 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7601085-3efc-40e6-9d67-00a77106c05f phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_phenotype HP:0011188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ad937e4-5c08-48ab-98ff-82d639928dd8 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:38b3588e-1746-443c-b51c-378a56ffd619 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:af07534b-1d46-4fe8-97e8-0c46e9620b8d phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c635279d-9d13-4ffe-8734-99ec5ad6ff6b phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c1364a1-aae2-45c0-8f12-ecccc2d37b58 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66fc20a5-dd3d-42df-9e4f-a91530bd3a90 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4eb33020-ed04-472b-ac2f-88e2dbf72245 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:668bb39f-e558-4c7b-95f1-7c439b213cdc phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d4bf3ee-ef9c-4359-8fee-30268a7b5352 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:504d939f-9352-49fe-b4f6-233cc150fd1d phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d02dbd6f-d926-4d1b-8358-612352043185 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e1d9896b-fa3e-47b6-ba0a-2bcc4169313e phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5a49f461-2812-4f0d-8637-6ef44093ff83 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c80e7b2-2d0d-442c-b7b1-f53e30c8a67c phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db8a9291-29d5-4ded-9d5a-e8254769094a phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9227fa40-68fb-4b4e-8062-c580a51e4a2e phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:486d3a4c-59a4-461b-8630-fccb8373ac3e phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:251f269e-430f-4683-bbb3-9aaf42312e38 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e926ee5d-e1b5-4153-92f7-72146a4c5af6 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6f526387-495d-4586-af53-503f0c549ffa phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:db58d969-0894-47bd-a451-031fb88f690f phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d0d57ca3-60ce-4436-a7e7-0cece7e361c1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af15f02a-e3c6-4310-82b1-f460ea0bb2fd phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:15e4a740-7684-4c0c-a36c-1b52f41273d1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f82c3be7-5496-416a-98c7-aedfb1289316 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ebc5038-9755-443f-a7b3-8114c28e7b45 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8788824-00a1-42c9-9c73-5bc91f26aa38 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d23e699-b5aa-43d0-abde-0911765ba4aa phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:293f741f-2741-4e01-9e2e-ebd15585d121 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:843791ea-f22b-44c1-801f-dcea31438076 phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:19f45b46-7190-4d05-88f3-bbdc6156933c phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ebbc3b50-da7a-4214-9c5c-7fd9e2a27938 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fea36db7-9f5d-4956-bd74-c390fedd9602 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70dd186a-3664-463e-8cc1-32ca1edcae66 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4169c24-4882-435e-9716-d9294efd088e phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:642a6b1a-a410-40ea-997e-5c11e80193c4 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7bb4212b-3048-41e1-aed6-9d0548631cba phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc0816f7-1bf7-448f-9c88-0611f1f63e92 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5a2f6065-4ca4-4ea0-9990-ae08c03e0c1a phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7cdc384c-12b1-4a3c-a001-00e595136a2c phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f2cca9f0-6a8e-4ba4-8da6-3d0269df8ef8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78331654-aeae-4dd4-816e-d7549bdead3a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c371d790-3b0c-4409-8054-a5edd5dd3448 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03abfcb5-e73c-4a7f-ab5c-6471f4e812da phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9c8186e-0dac-476e-bc7e-4a2acc4f1264 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f53e601-4067-427a-85bf-3690804ea4a0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e990de65-0d77-4c46-ae9d-6cc71c7371d7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff396c67-16ab-4cc5-bbe4-d996f10f400f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6d2eba05-4fda-41a8-8ae2-c816a088e4e8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01471a45-36e8-4bbe-8177-d928a2f0e141 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fe7c759-23fe-45be-8108-e25107169294 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b1328c1-40b6-4e09-a47a-7b54d38dffd0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b1f78339-4799-4db1-b9cf-8b5131fdd2fd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8bd0241e-59e0-40b8-855c-3c42b76fabdd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f9ef0d7-469f-4739-b3e7-6b2b3a2a601b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f4941ea-4b88-4e22-8eec-d76ae4ea7be5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56b5fed1-ee59-4066-bdfc-15290284b4e9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0bf16e18-9777-434f-817f-458ea7d28aae phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52569144-84bd-4ce2-b6da-72ade2d1faa4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5ee58021-4ddd-4751-a5d7-7dd6f32b256a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f0292f97-8886-44fd-aca7-75dab508c2e2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f4d69586-5166-452e-b2fb-da01beb9716b phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa29c528-ca51-4567-afbf-3187607742db phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3344ff55-66be-47cc-bca3-1206e078a7fa phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6979fde1-1508-4949-b252-c2e414f21c08 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93410097-90ee-4e1a-b0d0-2f3f1c693a6e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbeea41f-0057-4b45-aeee-f36fcb3e8456 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bee47e30-5ecb-4e14-814d-b109b92248ff phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd7fcab9-ba81-4185-aab1-2d6ed9cd4802 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37948dbf-f8f3-4939-a99f-0a67d5ca8d34 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ad6cd9c2-e72d-40fc-bb4e-758536ca5128 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0012017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5902971-0ee0-4eb4-a281-446830345e81 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:90f73818-968e-4514-ac88-b4c161d0f8c6 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1d238a49-53d4-4c5d-98b6-33f28fd9d172 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:30c56757-f744-47a2-9ec3-2d554c6780f5 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce0495c7-dc61-4ed6-84b7-81090eb79305 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9392478b-45d7-4d84-b4e3-4aaca8d10480 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ba72b64-0462-4a32-8db1-314c4bfcffb4 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6125fe0c-2dde-43e1-a76f-0f807542e15d phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:76a39594-86ab-43dc-ae66-7e6d64d19195 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9670154-d56f-4966-ba2f-9252f0835bba phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a02e062d-8df1-4cf9-84dc-7a7a9819bf1e phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:290b4481-6a7f-43e7-aa16-cfdaa14fb87a phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51df2f97-3ead-4961-a65d-3aadced19151 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb3f10fd-6e86-4eb5-afb7-37857c2f0ec9 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0011098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c88f8ffa-d3a8-4fa8-9936-309e889c9c32 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95e0fc61-7dc0-4770-a1cf-80ddabc62d3b phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000732 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:516cce60-c127-483a-8551-190ccaae8982 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0030081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:184121b1-6915-4801-8224-812556831730 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce85d0e0-ec7b-4c50-9297-2a17ed79f2cd phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2161fdd3-07d2-4460-ae09-f71833a5f1fe phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb1ed1ab-be40-4ba9-9704-082b6a84b4fb phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:048e32e7-daae-4e27-8c0a-c676b1fb12da phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:534dc9a7-8026-44e1-bb6b-d5031bf1615e phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4524a318-8f3b-4e9b-9937-fcb5c31364e1 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf03e35d-f5bd-4c98-8490-789a4f15c7fd phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae9b3aa6-3521-448e-9d87-2c0e3fb48382 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7acc4db-ea59-4b68-9bc6-c8f068d15d36 phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0afae668-0c51-4889-a916-4c6c8c7040ca phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7ba38529-35a3-4b6b-9620-f05a247f826f phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97eb70fb-a2d0-4592-86c1-17072d7003b1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9295156-855b-47c2-add6-5914fdd8c080 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85012d62-2637-4f3c-abb6-d12f697537f3 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a6a0f67-0225-4b4c-8c74-baa583fb9cc5 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97b4d041-aa2f-4aca-b756-cd532b3f140d phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5d9cdba-979e-483f-a2a9-c24e9d78a01a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:12b28a98-3cba-43df-99a8-a29f9900eaf3 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de1668a4-f681-4abd-aab5-33bb068b6ef3 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d87d4d63-d3e9-461b-9057-ecc9e8e18e6f phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6fd1a5a7-a756-4994-ba72-ff198845e599 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7db87df9-dc21-4c0a-a2a2-bc0b68990914 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f8fc8de-5403-4413-944a-35a1e6b2cb70 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e3e4ee7-bce7-4aa1-8903-55ae8fb51726 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1753f985-cdcf-4201-a1d4-132ccb098f84 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d1b8091-b567-4ac1-b2b7-8be4ce754d3f phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f2409ed-16b2-4bce-900d-ad3863ce1183 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b76ddd3-00df-4cfa-b90e-b1a5ace70eab phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5ba057d-efc2-419d-9bfa-27e9964aeb07 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6e6c1d1e-37b8-42cc-b6ef-3cd584bd03c4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1beee3f4-6e09-4c8d-b518-a4450ac94cc7 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0cf9dfd0-3060-45f3-ba2c-263277cb9296 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8926301-0438-4c81-94e4-fd051d55c008 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5659ac49-ed7e-491f-9ce6-6791b131d348 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:189c2b27-e21a-4f5b-aed2-06d66aeccb3f phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48522ef1-61e4-49f5-b861-85bbfeb1e1b1 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0b63741-afea-42c8-8901-390a303cb61b phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e219c20-38fd-4ea6-bd22-9b810ab58a95 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f01ce72-f333-443e-af67-d97858c88986 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d033e500-c650-451d-ae19-74f85f19e2bd phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6bff5e15-939a-493e-a6e4-b683dd6e08cb phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:aac4144f-ed8e-4856-ba16-b675eba5a6bc phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a3c2f06e-494d-449c-9b9e-6c8a1696b499 phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79d28ac3-4a55-4d0b-8d39-6344056de5a2 phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0612542a-df7b-4537-9b08-8663030ce46c phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0f223dd-02e7-4d7e-a67c-c76d5b8020fa phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d495122f-58f0-4166-862d-5b4f78581ade phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e275993-8175-40a9-a963-85dcdac2ff1c phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6676e9e3-46e1-4b9d-b461-9133e760210a phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2f1f583-a688-49cc-af85-2619494674f6 phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ff21772-e133-43ab-9e29-6a5659969d43 phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc58de0f-0d50-4cd3-bd10-62bf71ff562d phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:959f64df-c358-48e3-9e0e-a5941e5b523e phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:db4a4085-1423-4640-ac16-f52ccb01e26b phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1fcc1d1d-7141-4b53-aeb9-90415defc26c phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85ccce7e-2008-4f61-8bfa-3babd00c5f94 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a51141f-b3bc-4f2f-8034-cf0cc4ff175d phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb67afa7-f23a-4d4d-a4ab-034f3e473619 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc3a8fd0-bdc5-4f16-ba33-14c14db0f061 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1671e5f5-7ae6-42b1-afaf-74cf41dd8983 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:745f5564-4e91-4020-9d87-767ffbd0a3a1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0012014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7956c482-3657-4d63-b601-5947dd313218 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00de0682-09fe-4bff-befc-16ad73e88aa9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e609152b-87a8-49d7-be6e-b20e9e0a3961 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:971eef3c-36e3-4d09-8a2a-27ffa7981398 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0012172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:944f73b5-461a-47c9-acd9-bc22723a6357 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1fc5a6d-1a0b-4fd0-8975-51b35c880579 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78cee201-3cfa-49ca-b886-a07cf3d26df9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0007010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04fa7a0c-84a5-40af-96dd-d210a1edceef phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9cfd3d17-067c-4aef-861e-2d832d74dce1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86b2d27c-39ce-436e-b43f-2f123d0b023c phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5fc96698-8fd9-4676-8129-4f67ad2054cc phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f235b313-c8ce-407f-854e-543aa9708fc1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81fecd54-ebbc-41fb-94fd-b5945d7c3288 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:495e3842-b078-4b52-9d22-d1df6c7cbfed phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0007015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b40d8b7f-796b-44cd-9350-183200821aed phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:972a8128-c12b-4697-a01e-1668a0c8e7ac phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5d0ee9d-5a68-4ebd-bbd9-e5102e5bbc0b phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:864688f0-5aca-4b36-8a7d-361d978345eb phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5f04d90-70e0-404c-a28a-637874fb573a phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1f2131e8-3015-43f6-a65b-4dbfb016e555 phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7f62df96-a5b5-4812-8ade-e519d2d36bf3 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba064ab6-bbc9-4bf9-940e-1635ac73c509 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3c50218-24dc-40b2-b896-0ad212a8e261 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2221110a-458a-4564-8489-5a92eb55ad67 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7d622f3-49c1-4035-85d3-80cbe6521f1c phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3b9db42a-9fe5-4984-963d-a88348ff8ab0 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:320eca00-c77f-4e30-8f71-fcd9fd8e9b3f phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bcc53e79-637d-4e2a-b98a-eedccb047ad4 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27496724-7e8c-41b4-9de5-2f209d68e245 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b669acf-05ad-4b3b-bfba-5b3d221e6ef8 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7781bee4-774b-4316-b2df-739f9ef96060 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e5337c12-b678-4867-9c9c-f2dfaacd4901 phenopacket.store:STXBP1.PMID_35190816_STX_EG1399P biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f78a01ad-5cc4-41fe-816c-7b29346b642c phenopacket.store:STXBP1.PMID_35190816_STX_EG1399P biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68bd4f7e-ba94-4197-a21d-954288daab56 phenopacket.store:STXBP1.PMID_35190816_STX_EG1399P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cff21558-571b-4aa9-aedb-f6340ec428ce phenopacket.store:STXBP1.PMID_35190816_STX_EG1399P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5f1f8424-a9fb-4ed1-8829-98d0e81b159f phenopacket.store:STXBP1.PMID_35190816_STX_EG1399P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2ad351df-e996-4bcd-8834-5f193423c410 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3596785-fd4f-42ed-87e5-e61fcca6519d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d551ef70-19f3-4a10-9215-7df0294fbc71 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6739f32e-999a-42c9-99ad-cc677a042c94 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4c02e27-4395-4c51-be02-0861116fc233 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:105e80e7-229c-4a0c-b7ab-27456504494a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0b152276-c87b-4aa1-b63b-80d1861e7fd2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2e2fdc4a-b1c1-43bb-8a77-94e9e065d407 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5367d391-6e79-4bfa-bd14-e852080b2f06 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9f4bbb2-af5e-4b74-9fad-2f6efbffa153 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66b1158c-5270-40d2-b549-f36e0fedba0a phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:565ea929-f775-4713-914b-f45cb197dded phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8021ecfc-a2c6-4c74-a37b-0b1412aef20c phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1cba4e28-2f68-49c9-8692-94ae63517a85 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73163414-3680-41f8-8a09-99d9322216fa phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ad867c0-8ae2-461f-bd92-af99c06303bc phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0bbd31d8-e090-4374-a377-452cf02057ba phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b643965b-055b-4869-8e19-133730e729ea phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T1266 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acbbbbd4-d8ea-4e3f-bd36-ef064fef91c7 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T1266 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dfa56918-1dca-496e-8829-9c7b01c96ecc phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T1266 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:58933163-90ea-4d72-b203-ced604a84bb3 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T1266 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:82bc707a-fadd-476e-b8da-fadadbdaacb5 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7300e969-af9a-4689-9e44-583adcfd925b phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70f561ba-8b2a-4719-82e4-f27013be9ef0 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:699cc89a-f2ef-4921-a018-283656ad64d4 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29b5ba28-ff5f-441c-a6fd-6e12af7e6b34 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dec6bbb7-e698-4d39-ab1a-54c8770b0ae8 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cbbc6c0-6c45-4e27-93ef-b1857edd2403 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a348913-b7f7-48cc-b5b2-a9d962aba81a phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0002493 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:658ae441-8b93-4ae2-8cb1-6cdf300c1a8e phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:129006ef-202d-4e13-9d4e-f61117d29bcf phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50025fda-748c-4fe5-8360-cb2e835274fd phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b00747e8-b17d-495c-9b97-5469d0d1380c phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4fe40cb8-a42d-49a7-9216-d4799342a7b5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c48f9ba4-65dd-4fd1-af6f-2ac20f859045 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:604bbcea-6fa1-4c52-be2a-e1ce03f80786 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21f75b8c-d069-4789-8f06-3b2b62b604e8 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77084972-bf9a-4345-85d1-f29d22061596 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f02b6271-99b5-4244-895e-897fe77fa7ce phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f3e5181-4d40-42f8-a1c1-e16eb818e7cb phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f44676eb-a1e4-4b1b-aa75-ac943b199cbd phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:605a436e-d822-443d-80fa-42b9bb618faa phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1408fdb-1f36-4ac0-a779-438d4f3cff80 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca2a20c8-f63f-4469-9d40-a3d5c2601ec5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ca72e4e-b94b-4993-96c5-19839dbc8eae phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ebf6be7-9fde-4318-9bec-10af49da2e99 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:635388f9-1eff-47b3-b7f5-2afadcb95954 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:faf0f4bc-f4c4-41d9-bb33-c9f26b861bd4 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c5f65608-66ad-487b-9903-064db3f38909 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:205a1c4e-f053-4e0e-a8e0-f86328455378 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:713b605a-132e-4b19-b2cb-65ae576e0d85 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00561da2-70d8-4389-915e-16e820ee0e96 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aff8569d-3b1f-471f-b519-3510c5055e0f phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:871355a6-b6c5-4a8c-88ea-566644c2965b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55dcce90-f032-4866-bc97-13c02ab46f5e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:386692ee-2b58-452a-81e2-9ad285f8b74f phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0010844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cbabc6e-627c-4945-a7a6-3168b502619b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5a84e37-1cd9-4076-b379-eb692a9cac35 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c79e6017-1ef7-4d70-8316-c704b3dcc0cc phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:69793e1b-5a9c-48d7-9e2c-8688369a5bbb phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f01c0a9-338e-47da-8cd6-2e867a17b143 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc4d858a-38c4-4d98-a85a-c3416d484548 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:81126994-148f-4ad1-8b47-fb5253958029 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:67733ad7-0ddc-4c35-8093-b9c13606d54b phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2bf0078-114e-4a8f-85dc-67b6af21c854 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5ea0a8b-8c46-479e-a286-c037a2f1417f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:367a5201-554f-4bfd-b373-3c92d0ba225a phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7ccd0bc-dd65-4728-b385-f4e73e6b9f1b phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:848d4044-e82d-45a6-8f76-922389afb55f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5a0bd29c-6b6e-41d8-b29d-99c2d6cc84df phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:127e5294-ddde-47a4-b13a-9f2114d6ce45 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c4a23330-0b3e-444b-b803-e64c9e6ed295 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1388e58d-2c84-452f-b572-92a7a381f5cf phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60b7f983-ea68-4145-87bc-cc73d047ebc8 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4f1bcf8-0096-4379-b08d-f1eee5c13bd0 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8729f4a7-82cf-49cb-9131-42479b92084d phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aab47903-9ce8-4c91-8690-1ecdf1bf38d9 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d62e9044-9177-4ea6-af67-158cdc1b0464 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3c51673a-e9cc-4b4a-8372-1c70a12c62a2 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec50a820-b9f0-4a1a-a08f-f349947cb05d phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95cb2ac1-e063-49c0-94ed-001fc97b3f69 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20fa2dbd-c74c-43f8-9483-4163510f3fff phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6be90c9-ef12-4fd9-be3d-e77553ab3806 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0012703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:808e457e-fa4d-46df-a3f5-98e2dd07302f phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f49a702-6709-4074-9804-da7cd2007a00 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4adad604-36b7-4004-9699-57b395b22fce phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58adb287-9faf-43ed-82bf-b4b1d97b58cd phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70599363-cbe6-4d0d-8331-01f72046a355 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:40c19e20-3cb4-43bf-914d-24ce376810b8 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:aa9ae8bb-bd9c-433d-8e67-45a04a693523 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cda53643-adca-4574-86e6-b01e27344bad phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b96834d0-1868-4a40-a283-3b2c072d8328 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf98041e-97f9-41e2-88c5-cdd56ed00283 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01e8d9f5-f846-4849-9767-1ff8646c7476 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c2976a38-4bcd-445e-9a8d-02b9323a20f1 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0040288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3ec5522-d67e-47e6-8bf5-0df729573812 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:104fce97-3d74-4b81-9dd6-8e04ae49083a phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9dafef14-0f94-45c6-bcd7-3db824d4688e phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ddc35f2-2f3b-4137-ab9e-f1ebc42c847b phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acfffec9-cc82-4f94-87cf-4d5af1fd6652 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fc875dcf-d849-44ad-a071-9d6e1eee1be0 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ff128c73-5f97-46c3-82c8-de4587c98802 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7621f0b6-e504-4535-a0c1-98ea1b63e725 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4347dcb5-8c74-46ea-80bd-fc60dd9ec3d9 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c1d2337-1cda-459c-a07f-9ae7b721a296 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ffaaba3f-94f3-4e5c-9212-2245b49584ba phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cd60e19f-3ddd-4272-bb61-49c6c875f58a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c36df12c-2baa-41f8-a341-ca60d6e2204c phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9170e7f3-d203-43e0-81ce-b0bb73a26b73 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e6e7396-1262-46c2-b5db-7ac860f6fe65 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e6476e8-83f4-4a02-aefa-82edeb2fbfdc phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:399c1d4d-4839-4b63-8eb8-df4c7ef69847 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:349c4d97-d28d-4313-a16b-32b45fa4db24 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bde0e651-17ac-4a27-ba87-40a52eb6abd7 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8994c398-7c6a-4388-9cff-3bdfaa2bce01 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0421773e-cc1f-42b6-828a-62a783528ea2 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f922a44-3564-4183-8b69-925f3a6f951b phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a36db92c-cc99-488b-b285-a90ba8abc0ae phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17637df9-502f-4779-8dde-04d97126aedb phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d9855ed-9b43-4a0a-a8d1-43d9a8138244 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77984528-3a5b-48ae-be55-dc86d446c096 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a6a59f4-49c5-4396-b994-01b7d60f2bd5 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0fc3016-116d-446a-a34a-6250f747d960 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed3abc8a-9453-4bde-b8bb-e87c50ce5ed3 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a696007-3507-4a9e-ae8a-015748b4420a phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:103452a2-c954-4088-aa2a-e8dff8069223 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8bb832c6-f392-4402-b01a-62c20f9001dc phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b52f04a2-cd14-48ef-8d5f-f5ed7c5272d2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1422760-a795-4a5c-a37a-57f426a1482c phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f18cab3-7e4f-4e66-952c-e93ff54abdcf phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:666b35c2-0465-4bd9-942e-0868cd9dbf66 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0200048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cf09e401-26c0-4a5f-9b49-fd70c62718c3 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0010536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b71c640-1786-48d5-81f4-2c0e3ff11865 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d9d474d-d772-4c1a-bc67-9347e6791f74 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8d620e5-d595-4fa6-8e53-9f730dfe3bd0 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:692ad862-4330-4d96-944d-86ac5b45fb41 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0030186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa3663a3-8cc5-4f91-8637-7f9ce633e500 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3efdf0f-35ba-46e1-b777-b56868ebc13a phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:adfbfb60-3532-4d2e-b815-05d958e98725 phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:418dedc9-4f69-4c7f-a9ef-5e77e25dee1c phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4b98eb49-23c2-41d0-aed2-ed1a8b183746 phenopacket.store:STXBP1.PMID_35190816_STX_102 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c713413-287e-433b-ab13-43a514ed0eaa phenopacket.store:STXBP1.PMID_35190816_STX_102 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42cc9e6b-a897-4b64-845e-fe3956f06638 phenopacket.store:STXBP1.PMID_35190816_STX_102 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91812285-1cbe-4d3b-a3f0-d7d34de45dc7 phenopacket.store:STXBP1.PMID_35190816_STX_102 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:83b66de8-bbad-487a-a59b-8cbfcf604429 phenopacket.store:STXBP1.PMID_35190816_STX_102 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:80e39fa4-44ff-4f2d-975d-f7e80f37ac4e phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b91d7d38-597c-4a26-a407-df17f47bb0c2 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2108682e-3d50-488a-8f6a-c144ec62474e phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0031951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b85d10b-a87c-416d-97bd-abe2fcfe3f11 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8e47c94-5f3c-4c32-8676-dc278582de3b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92389583-f35b-4e15-9c19-b43621bbe1f9 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:df48abce-abbe-4f93-9491-3dd2247377f8 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc214a69-f2ff-4a82-a1e4-b23849c6034e phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0011188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:297b166f-5900-4617-b6c5-467b523ccc71 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:135cae01-49c8-4355-8f22-e710ac212bd1 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b820214c-f0e8-4910-8468-eb0b5f04757a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20967569-77a3-45f4-afb6-8c44df320862 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c57bbb8e-3aeb-4cff-93f3-88672d8f43e8 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:223bcbbc-b403-42b4-9fbd-c61a2cca33b5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ce2bfe98-ff65-4935-8c22-335f996b24e6 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5211db6-2bc8-44bb-a501-d5e5a980cedd phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77d116ad-5e80-4b8c-92a4-26045088b91a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be3b9bc5-dc25-4646-86af-0c2e13166dd5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ab1d87e-510c-40d6-b655-1d7e4e034d68 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a29184d6-5066-43a5-b96b-7e35a15d78c7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ee0debb5-25db-4104-8582-87b4d57dc75b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:144fe93f-43c4-4b1e-8763-e608a8457c62 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26f7abd4-88ef-47ab-afde-cbe2686edd10 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97349261-2eb1-4125-9e3c-d5fd2062e7cc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d32576e3-616c-4592-918c-e46cce7f3651 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0001583 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b061b0d-982e-4b25-9450-83cacb6c5295 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8ca7706-ad45-49c5-b6a5-6b6fd9a67cbc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:192fdacd-b747-4588-805b-1e0d134456e1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7de4dcca-4be6-49c9-a5fc-104bb06b24dd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ecb5eb2d-5fb3-4049-ab4f-1a035c4199fe phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ae6510a-9fe5-4d41-9dc3-7d4a0763efe6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:76815be9-8840-4551-8de5-3603f1573642 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68cf684e-95f5-4826-864d-7331943bf3ec phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff06d5a6-6608-4dc0-9434-d22cb5a1b72b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37ab1bed-0a16-4c1e-a70e-b145cc4ee580 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b9095792-a222-4085-a39f-be88fa830e2b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3e97f96f-ef03-4c92-9251-45c5888ec6d9 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79e72317-7bf5-4e47-9790-ff4c7538676c phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35a58bc1-f86c-43fc-b202-d6e3f068a4c2 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:605495c8-ef16-435e-be0e-219e73541383 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d389cf37-a700-4130-8898-3f039c116663 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35dbd10a-54d4-48a5-8916-5adb049c15ec phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d15c147-0028-49a1-b0a7-b8ef89d59d32 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:154056cc-12bc-4f8f-bdd9-4a279dec98fc phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b63b1806-8f35-4f3e-9eed-03d0be5f4d2b phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a0527af-baef-4a67-9915-25355e96ed38 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4bfa8368-2629-46e3-bba3-7dde8a44727f phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b63bbd13-38bf-491a-86d7-c40e5920323d phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:94d41ded-4412-41ce-bb51-2eeca6d49cb9 phenopacket.store:STXBP1.PMID_35190816_STX_32429945_Patient_23 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82133d8c-c6d1-41ac-8c58-7812357e6334 phenopacket.store:STXBP1.PMID_35190816_STX_32429945_Patient_23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7edcfa6d-22ca-4eab-928c-e1ca9273d6ca phenopacket.store:STXBP1.PMID_35190816_STX_32429945_Patient_23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f104277-0d20-432e-8fcd-2c7de35dfdb3 phenopacket.store:STXBP1.PMID_35190816_STX_32429945_Patient_23 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cb6f5dc8-b33b-41a7-85f9-f73d1d00fa07 phenopacket.store:STXBP1.PMID_35190816_STX_32429945_Patient_23 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9f47022c-a3c1-4d03-9b66-7dd29783ba79 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3ad80a5-30ac-4c07-afa6-06d18cc12883 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:62f21071-5504-45ea-a9ac-a6c2e7329398 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:900ae133-9e7c-4c0a-a8d7-3267c9a5de1c phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f2bbe86-bb93-4cb0-be88-fe16e24996e9 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f53ddf6-bf47-4cdf-94e5-3bd77c689ac2 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_phenotype HP:0007240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be50365c-ac0b-4599-8df7-6c3bf331574b phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:63d89258-4d6f-4e58-843f-8a9a972074b9 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:00424315-d1a2-412f-bc6f-19c651db7373 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1734a9f6-e540-41e3-b2bc-ab768bc15bbc phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d12162ce-7547-42d5-a3c2-5d99d92a01b5 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2736aec0-a5eb-4d16-892a-52104134af86 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55f04277-6e55-411f-a416-a4c3b39b201d phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:71bf59e4-1e70-4507-9754-f858b0d9ea38 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0085d1e5-8ba9-4147-944b-4bc9b7bf56da phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efbacaf8-a7e5-416d-a011-1331968645fd phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8fe63dc5-3635-453b-b522-a19bb65c7f52 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2260a7ce-4e1d-4696-9e65-51dd938680d1 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:855a4d8d-a29f-4f96-afd5-f9c2a85df957 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4af3bd33-508a-4bf2-90b8-08fea8c28111 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a2d1685d-e52f-4a5d-aa61-889207063d10 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c9f0026-9a02-4d3e-ab0a-9672cff6bfc7 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d3c4e7e3-05fa-4d3e-be51-4831b44cb76e phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:43ffff4e-4cdd-45b5-b763-2b1df039d4cf phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc7f40ba-a14f-44b8-a3ac-c0b34a010e21 phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dec56508-a9ed-49ba-8e62-3a7ce7342fc7 phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8824facf-1d8f-459f-97da-cd453b301408 phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4542400a-cc5d-4f91-b405-ef33adb9160c phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8cce24d9-9dce-4a5c-8c88-210d10161d7d phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6779231e-f9a1-482d-b543-543a01f39e21 phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:eeb9e867-5076-4cec-b4c7-d64ce2091e6b phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ddfc9cfa-9f75-46fc-aa59-fd916cf98ac0 phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5dbcba25-f6f3-4eb4-95ff-01b1f0a505be phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b039239c-c421-4bb7-a824-17e9c259199a phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9c490fa-88c1-4472-9cef-bea26a47cd49 phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfad1b61-7bc9-4a93-97f8-cf26f5ac73b9 phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b68c5b2-2789-4b08-850f-c054222bc6fe phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0002333 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ee21a8d-7c36-46b3-9181-c08bd2cdc39e phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5ea5b728-3a37-4246-b7a6-ed66639d0bda phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f42ffb24-47fc-4954-b91a-4475e9532fd3 phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24f9a00f-149f-4ada-b60a-2a76f6431327 phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:da5d67c0-aca0-434e-866f-cd56a95c3356 phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:780b3c9f-5380-4ac6-af96-3b673346aa82 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7cc949a-0abe-4481-8d83-96ac38af7ff0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21d29898-143a-4800-bf56-20112eddb3c6 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0084307e-a437-44cd-a476-d5d99014bd61 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3148f88b-2c54-48dd-9d83-77c312343a79 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9155f11-331f-4cc1-bdca-db63a8e031ec phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc61102c-22a7-4b20-9369-e2bc5fc158bf phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cba725bb-48f7-4716-b0c9-3cca83de4bb4 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2b047588-5a0a-4186-b859-55dc8c852f8a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4ce8e405-6174-4b12-beab-2cf1d9a14c28 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f2c83a1-6333-4135-bc3d-c5b15aa08f8d phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:850de68c-c0c6-430c-9a01-59a77772a408 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0816c03-e576-452b-b94b-fad376508edc phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:beca2f28-a579-469f-bb29-d69f0c105b78 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd1f5fbb-1c72-40d5-ad8c-cc1f445885c3 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb9132a5-84da-46e0-8bff-89b658d4b2a1 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae4efd9a-5f8d-4d1e-b0dc-6d633a7ed060 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b1c36ed-a0d7-4ace-8a45-f0d13713e7dc phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf7bc886-0727-478e-91d2-18e83bed4ee9 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f1eb341-ffe1-44c6-bc7d-8c8b88a05680 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ade86b01-c2fb-4e90-94d0-df93c5a74df0 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0031355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b884007-cb74-4af4-a3bc-e73f753c2e38 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b5b4b10-2646-4349-b519-3cf07bba6319 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a979d07-c227-416e-9ed4-6a9b6b139730 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5a18ed8-71c1-4116-bccf-6eaec9eefbf7 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:165cb4fa-c084-4ee4-ac1d-b5a42b644b21 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a78bedf-e321-42ae-a2ba-de54c4d09923 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4feaa81d-e3d7-48e4-a2aa-ffe6c5d8e98f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a8721755-b1d8-4144-b0e9-0b1f04c6e687 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6235ec19-d8ee-4ccd-9958-2810a9fdbbf4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca037dc5-ee11-4302-a49d-53030d80a886 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ace33a40-a702-42a3-886f-26b23a3813ca phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0047e241-ecca-4466-ae2e-34435fefcbe3 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa57372d-0b74-424a-ba14-2f35498ae83e phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bbe41e4b-e82b-4086-ac53-85e2098551ed phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:801670bd-4d8e-4bb5-bb08-8f3168ec93b1 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9594ad9-1fda-4cd3-aa23-753d557b4589 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:698f10bf-03ba-499a-8e36-e09e0987f7af phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5745c49-5339-4d7d-b00f-011de1bccca4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07cae30b-52a7-4625-b092-e00274a7656b phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:076bb5d8-10d3-4039-811a-9b886c849362 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9ae59bf2-172e-45a9-b707-13b65dcb7405 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:495acdd5-99d0-419b-961b-816e1f5787e7 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0010821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17ac998a-0e24-4584-bfcb-9c565ff8ea87 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:277755df-e352-4b1b-bc07-0ec2afe3b079 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9b52292-3102-494c-a518-81b6e97f064a phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:65133a54-1cd2-443c-a41e-e4959f3dd91b phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6afb7af0-c4eb-4113-a75f-b65d3e2ec67f phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d6e1496-b374-4192-b286-8aabc488ce73 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4e39002-3cbb-4b21-9693-795eb8ae88b0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11e3f2de-c51d-43c8-9f00-228246717390 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0031986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:98e80532-23bc-4f38-80cf-f8a155376d5a phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2143bd76-6fcb-4072-b54a-f3790a79ede3 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0004373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6b33c9e-9434-43cb-a9ea-4658c3c98d33 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c3d87a5-eb70-4e32-aa43-5ad690dd73e0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8031defa-0661-4aba-ae34-b22ce9614343 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99222194-3831-4154-9224-670068d97904 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60a8b551-7c60-452d-872a-cfb9b1e11f66 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:effa0bb1-6bc3-4b41-8a4c-d488343e7d7f phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f164c2f-030c-4cf6-bf2b-5dfe014e55e0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6791777c-082f-4015-9837-78de33b5ed6a phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:44b206cf-9cdc-4f8a-b026-903a379acec9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f54ee283-4a10-4ec0-914c-ecfefa7a93c9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:999c373a-06ad-41f6-8829-b51fd16d25ce phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f2c79505-70f9-41cb-b113-8a5c6406d72e phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7feccaea-f777-4193-92b3-4cbeb93038a0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc1ad2e7-401e-4761-b020-25b448681b26 phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:847f6b3a-d511-40e5-80ae-58d87fb25607 phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:36b82d23-1609-4122-aabe-43266ae437de phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dab76af3-fcad-41d2-81fb-2a653a20120f phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:013f4f2f-5a5a-440e-bf0e-ecc69be0c4e6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8e0d485e-faea-4d9c-91db-03e38cca10ac phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:acf24b73-6675-460b-a60d-b13b1f303029 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P11 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:682822f6-7b55-4198-87cd-4571ff285984 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0886c90-4b98-464a-8ae7-76ae8ed766e4 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P11 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:193a8a74-2ecc-4d60-af8b-e933ead6ea48 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d2b9cbaa-d06b-45a9-aab8-c334061a6fba phenopacket.store:STXBP1.PMID_35190816_STX_G3_P11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6cf9a1c3-2b9e-4557-85fc-423b91d7c94c phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86ad8382-b7b1-4d7a-9a41-755eb22c047f phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd5cf2b9-d40d-4e47-9b07-a07b3b081502 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00ffba3d-98a5-46c4-9607-df5c8d04aec0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca352b8c-582c-4c4a-b0aa-c724eb5b4be1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f544f9a-e4b6-4b14-9e7b-cd888af0e6a7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c6094d8-dd98-489c-b976-611737322218 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4be95a0f-b853-4b6b-b995-4ce07a5dc177 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1dc05b10-8949-4889-92b6-1334ee9dbbf3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c7e019d5-e1ad-45b6-ba92-db0562ec6560 phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8a655139-ef5a-4227-8f90-12206c65897e phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f179f7e-1061-4334-bdfc-ff7d7ccbc922 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e932df00-f612-4f8c-a8aa-e18072b46ce9 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa9d2c81-b780-40b1-aeea-a5d409ea7b04 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:790ec651-9cb6-4a70-b8db-ad4c9fd7dac4 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0a486362-64aa-4284-8637-5e6e518aa87f phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4d02ce17-1219-4e51-8a82-3726e1f180b7 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient598 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:557ce225-2e49-4f47-a266-e1f2e524c0a1 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient598 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1844f9b1-32b3-4c7f-a689-c06c757507ac phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient598 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1945d01b-7043-407b-b0bf-5d912364ebaa phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient598 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f3783969-d0b9-41e8-8138-19ebfafffcb8 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient598 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0f1e58b3-3f03-4685-aeac-8c43aadd9803 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0b18063-e050-471e-84cd-4eb991a9d84a phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:40772397-c29c-47d8-9d4c-381144e98180 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5931eb4-de39-4773-aed8-db74955c6259 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64197218-3429-4c02-88fd-3497a6198945 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33465783-8595-4f5b-960c-d05ccc233663 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fa9f624-a56d-4f28-aced-17d5722233e6 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c964b57a-d654-4106-91ce-7fa7bf8e8b36 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0008504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e87065dc-d388-499d-bad2-164116c17373 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:112c44a9-c6db-488c-ade5-dbe68c693c5b phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a6b7b07-ff1c-498a-8470-a3b8a29bb809 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0002370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e1fad34-f76a-4eb7-96fa-1c495737a424 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fdec426b-b7bd-4eac-83b4-459e83275e48 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b261d418-93c1-4b53-a801-55244d724548 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:973e22b3-bc5f-4b37-9e48-ef5314042c4f phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_phenotype HP:0010465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:241a3be9-5bed-48f3-8191-c39b49ee2c5a phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4ab04c93-b392-49cb-88a7-bf605d7d45ee phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:82338b4e-5d0c-41d5-8e0a-4ffcf3de720a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2c3b722-4af2-4545-8f7f-30e57da15398 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:332d411b-d527-42fc-9e2c-5fb5bed5be59 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa17bfa0-a42c-497b-ae85-5b7edabd6d72 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27ebf976-67a9-43b5-8c56-5e5d73ba4f08 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0007010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c247a32-92a9-4197-ae31-5b9fbc134ddf phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dba30ada-5a5f-403a-890f-78cfadaf409f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1148f46d-8109-42cc-924d-9c2901ce0b12 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66b0c2f6-1862-43a4-93dd-5f97b9049bc8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f1668e64-ca6c-48b9-8442-9fdb3972628a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:422fecee-d159-4351-9f6b-b4eb64bea66c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5230139-ca01-4e8f-8939-322f8d1e03b1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d6a2cc32-c34e-48a0-93c4-09644ab0aa9c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f480da0f-c9da-4800-a81a-bf23061fd46a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48bbf50f-e82e-4e58-b4eb-c47bf2684802 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37fc6b70-31b9-40ee-99be-152494c1680c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:627c3b5e-4aa9-415f-bfdd-48378540eb3c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b8cf1b70-33ec-4497-8b7a-6b917b1ac751 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e596a9cc-a27b-479a-94bd-8a13d7d85483 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f4e0657-2a2a-439b-affb-565b0652490a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03d44f13-268f-4430-914b-242c8a8ed0ce phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:da382183-d9d6-46c0-a81b-9a98da0cf4e0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5575df48-005e-4373-87fe-42c3d6cc1d82 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a5c93f6-4de2-40c0-9cdd-1ef5128890a0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43c76ddc-b030-4cfa-9344-c65a6358f5ae phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:580e44c8-6ecd-4380-9569-bfd0497b35c1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6ef75491-514d-4844-8010-736820e093fe phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4e21f3c3-c58c-4bff-bb46-4ca3fb173827 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0011215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c4b1bb0-0699-442d-a95c-c2a9521969d0 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5a79bcd6-1424-4c3d-9d09-65cafb3a2e5c phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a9844ec-0b79-4b76-805f-ce8920c59d64 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:292f8cfb-14aa-4b2a-81f8-d9aa72f3e0a5 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d89cf92-3533-40ac-95e3-3a6a77dbc07b phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0004374 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a515e81c-ebf6-4f90-96de-c954f6b353de phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97269e9f-40f2-42a1-b910-76d1c949e377 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa52dcd5-4d97-49d7-802e-5281aee78038 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2837b0f-261a-403f-be99-f3f3ac66859b phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa617ae1-7b98-478e-ac67-5386a7359a6d phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5697766d-3f56-4c6c-ba3b-c91078468020 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a3b5c764-5ff3-4f17-8f2a-57de91367056 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9b8b465f-c15a-4e71-a6f9-11f8bef4e63d phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18a2db3d-e875-48ba-9572-cddc6d5bb1a3 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0010848 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:46c1f4ee-19e7-4f60-bbf7-26025124e6ee phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:248f9e14-684e-4be3-a16d-76f84bd014cf phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e926ce13-9235-4291-99b2-5f94aa76f00c phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:54d2ce91-9434-482d-ad91-72a77efef7d4 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:493697a4-c39c-4b2c-a879-a88d47059eec phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:927ee629-8a73-40b6-89c3-fd5a90f52621 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c4d596a-9ee4-44ac-b9c8-6e1c0877321d phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfeec77a-36ec-4011-9709-43d7cc9815a1 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a76b1a0-98dc-4049-88de-63258c409913 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08c137ef-e04b-4526-9cd6-fa28c5b081b2 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:264a883e-f680-4917-8466-0d1f166a5f62 phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3af3c487-597f-4aaa-920c-d4dc319392cb phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4a0e402-0771-4b04-80e9-4d7c937b3136 phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9b109d4-f778-4926-871e-7da791503ffc phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b7c6790-c83a-44e2-9b2b-2acb3e6194d7 phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00ad294f-6ecb-4faf-aa6b-f970a5f4c903 phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9a3cf4f5-5ce7-435a-a9ce-30138fe852b6 phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f502afa3-22b1-4e18-935c-47ed5c0d2bb6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0893P biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3fdf838-1edd-459a-81df-c41a6b7d4a87 phenopacket.store:STXBP1.PMID_35190816_STX_EG0893P biolink:has_phenotype HP:0025234 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aaa1aff5-e4b9-4fdf-932b-74b03730c381 phenopacket.store:STXBP1.PMID_35190816_STX_EG0893P biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7380c550-ff9d-4f85-960c-de34620767b5 phenopacket.store:STXBP1.PMID_35190816_STX_EG0893P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fe674aa0-9fcc-4da0-92f0-4316c58c9395 phenopacket.store:STXBP1.PMID_35190816_STX_EG0893P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:892113e5-79ad-45d4-ad6b-7a5b27e3cce8 phenopacket.store:STXBP1.PMID_35190816_STX_30776697_Patient_70 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:964a356d-2af3-449b-9b1e-3a761871a42d phenopacket.store:STXBP1.PMID_35190816_STX_30776697_Patient_70 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0b9375a5-ad59-494e-bdf0-a1ade7faf468 phenopacket.store:STXBP1.PMID_35190816_STX_30776697_Patient_70 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e019eaa8-ac4b-483c-903d-e9196523da60 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba71b130-09a9-4d4c-8b49-f98fbbdc60fa phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8057326-9aca-4a92-9566-37a7ca1b1525 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e2e0b5d-99f2-41b5-b03b-86087fc48092 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c4e7b023-82b1-468a-a888-0047dfe7b3fe phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:076b1016-3114-4403-9592-6737ea9b7285 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a9a7314-a271-4282-be0c-06202cd09b23 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f593609-9029-4e9a-903a-776f59deebe1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fee702e2-b922-457e-a286-00104ff94a50 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bf22932f-ace0-452c-8244-3a976bfb191e phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e338b28c-b5d5-43f0-b724-87e11c957aae phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d6d9bbc-d727-4b4b-bec7-a8a593b62ddc phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81e9718f-4b4e-46d5-aff0-b9151bbd0d47 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7aef677f-66a7-4e6d-9688-bc2da7ef0dea phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5ca6b2c-d73c-499f-9147-7dd5b1202bf6 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d5d6ada-1eec-4961-8b72-12d77ea7a6b5 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a10ce4d7-5f78-4653-9620-c03aa45633ff phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c88c9be4-0741-49f2-86ea-e44c35624270 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79f6ae5c-a295-4e19-bb0e-5f756ad976dc phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7cce4c33-4071-4130-9ca2-7b7b20e7582e phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c188d60a-e473-417a-888c-acb60fa992eb phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:270edebb-1d87-415c-a9b2-d14bcc5bca01 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b84447a-e230-436f-b856-95880813e0e7 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc415a7a-2f7d-4d3a-a490-050a53736774 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4f285e7-c612-4f5f-b070-c93e6f3c1189 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfb36247-12a9-42c2-a0f0-92cabfa824ea phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77f26fde-6143-4557-bb66-ed8e2fd3318b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95b8b50a-381a-4b73-aa0b-d014e793c87f phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27a8c7a4-2992-4227-81da-f6a61b89494b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:05598fb9-8ae6-4395-9a69-4ed02ab354a9 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:12e0c427-b42e-4366-acce-8ade859a842e phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:59715aa2-69c2-4bda-9f47-a50c85257dc2 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0da739f-94af-48fd-9f58-70b7c9dccb5d phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2efcc792-ab54-4392-8396-80f797db33ad phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b61b07e-c295-4c56-8c98-412a2c981774 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f6792de-47b0-4dd9-8c26-d56b4ae43095 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c55b65f1-9369-4f3c-92ac-32143c87ca42 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4080fc3c-6578-4b8c-9a70-973e8fb08905 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:83731cd7-ce47-43f3-96cc-a4a2cab7dd06 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c1850081-40a1-4dd6-bfb6-ee9c566254b3 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dba40430-aab6-4c0f-ac44-caf4b8f8fbc9 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6a5ce10-40c4-49bb-b79d-5a30aa4d646c phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:451a49fe-5b27-48d8-995b-55d0c8b0341c phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e789090-a2ff-4184-bb07-9da2fbd08b54 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4882c58f-fe37-4114-a544-bf4c5546f19c phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f5dd478-0275-471f-86fb-56beae164e92 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6bd3701a-8183-4861-ad8b-7f2b5c3b6c40 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43f58cc5-bacc-4331-9300-1ba387896edd phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c0890fe1-0b67-4012-b171-1bda716bfd93 phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a3cb6290-1bb1-4ac7-9629-84ba82e79e44 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67f4340f-0940-4adb-9a4f-5e4b03a21215 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01a1fbd3-e089-44a4-88df-237ba2ef4207 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de88230e-6429-46b4-8a91-b94dc621ddd9 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:57232001-76cf-4ec1-b9f8-844ae70a8120 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4a50976-2fd3-4dfa-b22d-be8306b7f792 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be7ce6bb-109c-414f-8226-46d4f928ff9e phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9b446d63-5bd6-4098-be9d-a61414be43ee phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3cd771c-b27b-4fa8-ad86-fe8224349053 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1c7c7396-c1ce-4207-a276-e31b8689f5b4 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d983c11d-0fcd-4c0a-bd04-9f856f0bee31 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:752e17c7-1de2-4a37-a7e6-e1c36c4cf728 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:98df85cc-938d-4c05-8cdb-8cb153705901 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e68abbf2-33d8-43dd-a2fd-f8bea249263d phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef1429fe-8087-4bc9-bbd6-e49cc2000675 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0df42bc5-2208-45a2-8574-8c9f8bf71f9e phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29450c78-e523-4314-80df-939367efbd8c phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a708b1d-f1b9-443b-b80a-bb6b344a6b58 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bff84259-2b20-4908-8446-0bb43ec813ff phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7ba183a-2fea-4481-b57e-418d1cbf0467 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b52d4c04-7782-4e1f-84cd-7ca27060fa27 phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b46bb4bd-c99a-494b-90f8-043d3648f44c phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d49acfdf-df28-4182-bee4-e81aaa120b1b phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ad3cb737-6a75-4374-9ce1-4565fd8a69aa phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ee428f9b-7bfc-4835-a97e-8dceb82d5aae phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0011171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9666e04f-e82c-46df-8a2d-423420ee023c phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:221576df-35ca-4b5b-97e6-00c4d4165e1b phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fce508ec-0826-4107-975e-e2f4dd8e0d2b phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e752be0a-cb9c-4927-ae4c-7ec79e94f618 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ff4db77-dedf-43a7-bf33-7f295ed2435b phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b7f7872a-fda7-441b-b535-11c263abdc59 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:05617706-361a-4087-867f-9f3701eb003b phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eeb81b59-a208-4643-ae28-24e9169cd880 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:330f23c8-3331-40a8-9359-552b6199e325 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002367 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:593081ce-7bdf-4a3c-b9a9-d2e9691b6913 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:283f1042-b930-4836-8a26-71abc2a3a1f4 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5784c687-f08c-4a1b-9fc6-772925043f88 phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d9b018b-9e21-46af-83b2-412d49254b7c phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c3242f7-5b96-4b93-a2a6-ea757230165a phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2c19418d-5419-4e15-8691-3e6e9e10285e phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:88a327c3-3ee8-4044-a808-87dc04aa7452 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7867f882-4d75-4d52-ba91-416406b6518b phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cf32f8f8-f19d-4064-a87d-3094d23e23bf phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3f48d6e-5df7-49fb-aa2c-d15ad95f6e6a phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:df770f1f-8e3a-42a7-9706-135b79c26419 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d035be93-a19d-440a-b705-1bc03dd4d329 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30712b52-cb53-4c12-b977-f9f85cad0435 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c094ac5-aba8-42b3-b44f-6c4fd438e6dc phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0001266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6a6c45b-de0a-486b-9a73-dc5139721b7c phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07e221e2-5e78-4f9c-8ae7-fd520a203de0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa039e34-9bae-47c2-9fb7-6328df2b1337 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cfcd5fb-e1db-437e-944e-181a9fea247d phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b39fd7a-73aa-4361-9dc7-7a9522945f74 phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7c149ce6-1cda-4ded-b3cf-124e42b265da phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fc401276-9779-46fb-be24-84ee5d8dd117 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c6d0c38-ba16-4945-a15d-4bcc338ce14f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:360c3888-7dd6-4257-8170-7b738678b0a2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cbc9359f-7888-4d95-93c5-b41b47494ff3 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44eac7ea-7bc9-468b-912d-5babfb2e38dc phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:978d77b0-616d-46a8-9052-88327c95009a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f81f5765-8034-4d03-8a57-c6e97210b1f0 phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fba34635-ab8b-4500-976d-46544de2d89f phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72da19a1-d508-41e5-9c5d-23bde7917ddc phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66eda4e0-4b71-4c63-9989-812094cbceb6 phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea4303ca-da78-46f0-a49d-4b35a47cf750 phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37d3fc36-9a83-4e4e-b4b6-257a83675a2e phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db558a0a-7842-4044-9000-9709deaa1f55 phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:26d6ffe5-67e1-41d7-801e-16b1ab7057ce phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fddc6c11-e67c-42a1-a1e8-d66fec1d07cb phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile22 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8e5419f-6504-433c-b303-d586d39b3628 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29c2e22a-167a-4645-96ea-67293cbc3713 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34588650-5d33-44af-8bf2-a6abd5128928 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile22 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:005b7e4a-87f6-41d5-83fe-53f2811e14d2 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile22 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:289e1159-5803-4673-9829-d38bd0127af3 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c9fc903-cdad-4f46-9070-6b99bbad27f8 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f89f749b-88e4-4118-bacb-d24cc293ec4d phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6d551355-3fa8-49a2-976d-bdc6cb232102 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa8faeb5-a881-4f27-8739-8150b306ca0f phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79f1608c-2329-4c4f-8698-ebd435ef675d phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58aa2f01-9dfa-4067-a13e-2ed9375fca6f phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97b968e2-03a9-460a-bc09-17562f554246 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64b1f29e-a55d-4117-bde3-f5882e5a5d10 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af5412df-a238-4c04-83c5-b1d2eda47b4a phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:29f0ef2c-2c85-4568-944d-c2a468ea21af phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c63459c1-b4c1-41a7-a4cb-5b5c1cd70a21 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87e91c09-d77e-4220-99de-d47fbd689c82 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb12fd6c-bb06-40d7-b566-c1fde143fba9 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85be6082-3808-47b2-b755-9b32b1b81eee phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_phenotype HP:0000748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6901c65a-a8df-40ba-816e-a432a10f3225 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78e53ba3-6264-4b64-bec5-f8578713d53a phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0530c2ca-24f0-40af-8d62-80c126ac6b9e phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a5aefe36-ce82-4b25-9d3a-6a5ae21bd06c phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:261cf0f6-c806-4466-b982-ec427d814717 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de103276-acbf-473d-9a19-bd17ce86b80b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87f458aa-a907-4a84-8400-2a3a989c8200 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48e0e7a1-410b-49bd-a36f-c04747415e9f phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb989c87-92c2-4a81-a5c4-ca4374d25deb phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b455556c-72bf-4065-9c77-885803ce7d58 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:46168955-a1e3-47b0-bab9-9b511c5cdb22 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b76024bf-7c25-425c-8356-3298be237508 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e1aa17c-c59a-4e9a-bb81-acef0c41aa51 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1522ab4a-1316-4bd6-b3d8-3b090f028c99 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61977080-4460-4a4e-b1c3-6fa1dd6f7d1d phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f8b5c30-a9c6-4f78-b60e-10525514d669 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:263ab8f3-d02f-4f7e-ae0c-c642bd43c8e9 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f2cbf709-f97e-4800-9348-9ee1eb2a9811 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f7426dfb-8d43-40fb-b53d-30af5f2e784f phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b385f6e-0387-4a0d-a546-e6d67b58bba4 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92def4ab-94e8-4c8f-b5c3-b813dfa4c36a phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4140335e-2d28-4131-bb7a-fe8c4e6a7d78 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8781eb8c-78d1-4e55-9a6b-d964b921331f phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0004324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e33db6fb-86bb-4e21-b8ab-359de8292267 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d34b7b3-9277-45b5-9876-440e9de531c4 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f16d326-95d0-4bd9-83b2-dc8f867c2325 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0030891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44b767d0-fa2f-4e58-beb3-f7200a378146 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c11dcb94-6d5e-41ef-8256-d04cb0f374e5 phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_phenotype HP:0011197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20bcf220-d382-45ac-8708-6f0cfdfba43d phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7b763332-19d2-4880-a49f-17a991b6888c phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ee41bd2a-9f14-47e7-94ff-1874bd89140e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5a48d06-693d-41e2-9bb7-2b15c3c7f440 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4388706-5f58-40cd-83eb-f3fe58eeb037 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7922b36-6b50-4c40-9c97-74ffd48978bc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:62885e71-7895-42ee-81e0-955208427dea phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:98ac0b3a-b087-44ed-ac87-2939ad53f5d2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a472789-10b1-4ed2-8ff1-e5d3f6e22105 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4489a81c-a31c-4fce-af53-d1c59025296c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efd24307-bbe5-40f9-b577-8446c7519cda phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ac25ae2-e2e3-4f14-93df-60d9ad4ce521 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7dd3b1b-7ef4-45d8-b484-7655a00b98d3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0032046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c560165-d76e-442c-8884-291381d57fa3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:10c060f0-9049-4526-86ec-da5d9d15b347 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bae71ace-be86-4381-af74-8cb585bc3baa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b9b0e5e-6284-4aba-b303-53d22b0acccd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:aa8c9331-23d4-4453-922a-448097ac43d6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0371b3ab-ef9f-41f2-a509-64d558713ce5 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be5de0ee-7e8c-4ffc-94da-0941a736c03a phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1c5c63e-71f4-4b07-bf33-e99a0885cb61 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0002275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55640011-a611-432a-9c06-e3866f41bdc0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:093c9100-3b76-4fd8-a522-c6d198ef7bf3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a9e99517-ad32-4af0-aa72-d2ad72114028 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c51bb67-bcbe-437c-aab6-833f968ea966 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc972c97-d8e8-406e-8c4a-10ec4d32f768 phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0c7e2a1-a1e4-416a-bc3e-e70d93046efe phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3209fbe8-bfce-403d-abc5-5f0c4d04cdbf phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1131a874-0c77-4c67-972c-64e8447d8560 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a290ae2d-03fa-431e-a1e6-cb5db29574bc phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4e0ca64f-1288-4e08-affa-9cb11b2c8b7d phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae5f6109-7724-4c84-9b9a-f4eb6b9b492a phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42f81d94-7703-4f69-9786-add754a46b26 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1880453-a163-4a6e-8a1d-1e24178a6b10 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59ac1a96-2588-4cd2-b327-3580aa3219a1 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb145755-6bae-49f1-b123-ac61d3134274 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68fc564f-9d35-4fcc-b69a-19e88a21c461 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eeadc2aa-3893-4147-ac49-65302a3de78e phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b31196fe-c8c7-495c-bdc1-d4049052385a phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:40d7eddc-e3e5-47a2-a245-c8df1cd92dcd phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:766e6e67-aed9-4223-a827-afdd257cf9a1 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0002795 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d2ff04e-92e6-4e80-9ea6-181c046ebd0d phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e27ce7c6-99a1-4928-90b0-5e51c1c6e043 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0010803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7dbb34b4-138a-4eb6-b016-cda322ac1f8e phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f915a4c-1ccc-4e77-a53c-f89ee544165e phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_phenotype HP:0002060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35190816 uuid:dcdd3e57-c782-407c-b320-3bfbeb425761 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7466bd02-f244-40a9-8a4b-9c27ee1f13f0 phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8bd235c5-98eb-496f-bd50-5f6f66af8351 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:edcf1493-019e-4e8c-a78c-c971d8ad2fca phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20a7f254-91a9-48ad-8af1-ade67e974944 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:737ad678-f3e9-422b-bcc0-68ddc13cbf4b phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c05cddaf-53ee-48ea-87c0-47bcd376163e phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b69789a0-79fa-4ffe-9d78-fc8c821e99e6 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8868a44f-5c5d-481d-8925-ba15432f69ba phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:181ef58b-a047-4cc7-a853-31baca4833e6 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a6905787-44bb-4efc-9396-12198b46e00a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79deff52-7ef8-425a-b082-8b8704936e53 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:15138fa3-7127-4983-af4a-de795a70570c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:404fc27f-a84a-4cc4-ab55-c09c57e2c571 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:df08343b-40f1-4588-ad46-efffb22dc52e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fad33560-76ba-40be-a4b1-0a5e9327f6dd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:731af083-b1e0-4136-9094-4a7ffd8dee27 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d075d479-ef45-4796-97e1-ec8149b3b4cd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dfe0a9e4-fd51-4520-a0ca-8053ed834908 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f45a722-58d5-4dbc-9b33-d4179c71cdb4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1980f6c-f4f7-4a34-9633-2a8b2ee23f10 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:14edeafc-99dc-47ba-b85b-a17840852a16 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:37e525a7-365b-4ff4-bbc6-5aef3320cfc2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0685P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfea2ebf-8885-439e-9169-1511345a04be phenopacket.store:STXBP1.PMID_35190816_STX_EG0685P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2a0debd7-253e-4c30-9608-42f9bee13883 phenopacket.store:STXBP1.PMID_35190816_STX_EG0685P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cabc1a3f-4c1d-453e-bd35-f295c737b84e phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:563a0550-e400-4801-adf4-797d28cc4fc2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d00776e8-b790-4721-8cb1-28818ce466be phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b668428-d8da-456e-86c1-22a493aa9272 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f473ec9d-41aa-47ba-be50-98691f99b5b2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cdfeefcc-4144-41b1-bfc9-476718f00259 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:93da6474-8c04-4804-ab0b-1488260a1eab phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4a521932-5064-4951-b687-60bbb640e0d0 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P27 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99d8084b-8031-4c66-a7fa-44742b2c85e9 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P27 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f01852ad-6165-4e8d-8d4b-f15cbabd7438 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P27 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d234825c-6d28-4a77-94c9-53b1d4a2bd22 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P27 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e15deb09-9bb0-46ed-af26-0bd840aa440f phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02b97b0f-7337-44b5-8033-bde067302812 phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7def8ed1-1fb3-44dd-899a-32c7324511d2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0639066f-6fbb-4ded-a093-aa4d3b43e6e3 phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86f44310-7a02-4512-9ec6-907a05ac9a8a phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04a0d94f-b866-4b3e-b683-682b4fe35252 phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5a20273-2ec2-42e3-b764-ae819086def2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0d86239c-0326-44cf-949a-a0fc34fb21c1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:40c443a5-1e22-4b26-a00a-d9b5d379fade phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4660b3d2-8584-4d4e-97d0-63ad30b40498 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d2f3411-541d-403e-b1c0-129cb80ab416 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0011195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07eac01e-02d0-4b4f-bce6-9de313a147b6 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1b035d5-2e02-4f89-9659-a55ad8f55a02 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efa2e263-4a15-4126-92a1-f5f7213ac74c phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d591bc95-817f-41ff-8a36-4824505215fd phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acd5e5b6-8711-47f0-8b7e-e91b2bc0d8e0 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b24b4f5a-3b93-453f-8e03-2d8f118af364 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d5d4707-874c-4e0c-8455-35b7609b27b6 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:98a9c782-9a5b-44cb-9ca4-bf79ed453a01 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7c8351de-f6fa-4209-a1b5-bb21c021c634 phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b0e3905a-49fc-4a37-bdd1-09d11425ff53 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8edd9176-085b-4859-a223-a7f0c220a15e phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2cb9f009-b1e5-4246-a921-a45a6ff6580c phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:835b3b5a-ce38-41b1-af40-15d0144e404b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3d4305f-57b5-4808-a654-52fa857307c9 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8f93458-69bc-4759-9f1c-f8d787cf8dec phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6519f11f-8341-44e5-834f-44bf762c6b5e phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:43aa9f53-b58b-4613-91c2-0f5a48bb932c phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3357cce6-714e-4e79-ae94-9e033840da7a phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2366429b-d09a-47cd-b1d7-0bc98441dde3 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0ec1528-3825-4507-8dde-dae8d6c94b92 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52fe2db0-9934-4428-b984-ac3bd88a6aee phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb32a6a8-47eb-4b12-9f7a-d07ceefeb856 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0165c2f2-2958-468c-b977-23efb2e6a262 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f0bac55-53df-4b2e-b305-d91d001a49d1 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11eb5837-08aa-488a-ad97-d46767e129c4 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:155786ab-a94f-420c-9e35-445541fc1d42 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d815eb3-4a5d-4742-ad53-13a8cf6e140d phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fc5eb022-c35b-4c44-b56a-239060a3eb52 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d4a40bb8-a8ac-421d-a71c-7ed82e76fd68 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e814ee7-5f37-41e6-ab48-9563d7a1250a phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:038c83e6-6a2c-45bc-8575-17ec0d0e49df phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_phenotype HP:0011400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21cf1f89-b4bd-4164-a43e-bd109a567055 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f528c03c-c62f-4c79-8828-06fdbc1d73a5 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a66e1d9-c666-4f42-bc65-625e11824bcc phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:142f3b95-f1d0-4c87-bdc3-7d569bdbc474 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1327694a-9733-4d30-ac44-afd87d76ca7e phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e4f8efdb-ee57-4cdd-8f8a-a7a497e4e516 phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32b48717-3367-40fd-bd38-d6616aaf752f phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1813f40-3f5e-4d21-8362-8d91ee15b4b9 phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:418b594d-b1b7-4994-9fe6-5363f7d142e1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3a5ed55-6564-4ee1-aca2-98c83f498192 phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4416173d-70d5-4019-a606-e469aef8bc12 phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b1cc0795-0ea4-4261-80d3-26b0163c7d36 phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:db7646fa-cbf1-49f0-af9e-637b5d33dc7f phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bd54b1e8-a95a-4199-b9b6-85e4890664e5 phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b13068e-6cd9-4f94-b90e-bdcfbf416f4b phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c177707-4e9a-4050-8e69-5b8bb1d15a2c phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:578ce8ca-41db-41a6-a40b-1e58b7fb1815 phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b92657f8-5d9e-4b6c-94c5-c13e29eb0da2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91a93207-e514-493d-b774-b373be355a97 phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c64b023a-5f51-4763-b045-d7fa1a6e0658 phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a445d173-e2dd-4f34-bfae-ab2691c712ca phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0008843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8dab9c0f-d6fe-4cbb-81e5-e443650fb3fd phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5fddda1a-b098-4fe0-86ba-6a7712c1ceda phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4aee6fc1-9881-4650-a887-8355c229883a phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5b2d075-2e84-43a0-a47f-0421c24268ce phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e11d758f-095a-467f-ad85-d89d7bda5bfc phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1f5fc0fd-a8f3-4537-972f-d3a6853a139d phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:46e4bd7c-7214-4b62-9b39-32a5ba9a4fe0 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d755198-57da-41b8-882e-76f59e481193 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:089d453d-7c21-4a80-9ed4-5a277a468b18 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd3a5c88-39ca-4bc4-a551-d921cc151a05 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8edc753d-be91-49c3-87b7-c4b0f74ee992 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:155be11d-a15b-4c36-9fbe-f8fb1ff9a81b phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab9e3f8d-838e-428e-bef5-20a278285e2e phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70df2f1b-2a71-4319-9574-8c0626c47e5a phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0010553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:15e22b45-8388-4a72-833e-afad9ae1e791 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:853dbc4b-3e73-4b10-97b4-d9e981490e96 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6782f87b-d9e3-4876-b4cd-e0244d9ee9a3 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:95f60e3b-d510-4030-a778-2b1178b200c5 phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:06e0a575-4a5f-492d-b4eb-a7a1cdc59fe3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0f9aaf6-0d1f-4cac-ab77-d8e11f55766a phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9494484-93c9-4b66-af1e-5fa4d8ec3e0d phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a9fd9bc0-e37f-40de-82b9-16c22278bef4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9076a33f-c47d-4cbc-94fc-d4410248edbf phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0b48e20-803f-407f-ac64-9a941d7bd4cb phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28a31a69-f858-426e-af0e-50c77c8268d0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:106ad661-01ab-46ed-b8c0-bde895fdea6a phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0009062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec936ab3-8ed5-4eb2-946b-dfb48f67c065 phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0100814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:df734acb-c6a8-4505-9997-da046d42816f phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9361f2b8-d9e0-4336-a82d-ffdb92bd8d2f phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51d49452-dfae-4937-acfe-8fe9c5ef06a9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b442363c-9a3b-4365-b1b0-d9bcb83eced1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b2fdb642-be43-49ae-890a-2aa5974baea6 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a64ded09-20c0-46c3-b21f-78efb399737a phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3003dd37-11cb-4148-994b-23b74d17a32a phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e50b485b-1084-4d2f-bf86-9ab3b6c68fba phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f91e5980-ce9e-472e-8a6c-bd699582aa9c phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e647fd14-0694-4b44-bc3a-8d0b817be95f phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5d1120a-d2c1-4072-80e4-2d6dc43b5841 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0000748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:53739b4a-44ea-44b3-ac0b-4f29c54d8d14 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0001959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a47c53bc-31b9-4149-b276-6ba37a13aeb3 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0007166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60b9fb9c-da4a-46db-a758-a49f2684d5b1 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0c6f8fd-b377-483c-88f6-52e8d2cef534 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:885d569a-c505-4817-a852-ee5b50462e96 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8cead809-1772-4941-8af9-32aeaea03bf2 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0012703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e40f949d-6b5a-495c-8735-72b1c81b8e5f phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b5f2de1-1d3a-4373-b3d4-775e658a3f05 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b8469f43-6212-4a03-b062-f0f3d7bbde16 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73567130-f9d7-4898-b694-dca677b1ab98 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3948bf02-c7c3-4daf-9b4c-55f8db1ddbb5 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b77f4164-b0e2-43b6-97a2-0c19c4874352 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9a7216a3-63ba-49ed-9d70-e9ffb60ce266 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:51301f3b-d828-401e-b12a-1e06fd1229e0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c96b86d-da66-4a35-8591-6c373780ab17 phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:935834f5-686a-4756-a605-da150e515adb phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:da95b5af-ea42-452d-b123-933039a0cc0f phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca3efdf6-612a-4fea-aa2a-79adbbc30c19 phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3d4e4d1-976f-4376-9e7b-9fd16bc37b12 phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f991b978-7de1-42a8-9ba7-988ac1a5bd7e phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77f03a0f-1b07-4caa-8eee-b6897c09eaeb phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ade1d69a-b50b-4c66-8910-837a2fae765b phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4bb4b2e4-ab9e-4324-a418-6c7e19648587 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5719de2f-e20a-4c84-9ebe-8b7779ad5ec2 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3dfacb7e-3bdc-4d2f-95c6-5afd50a428fa phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aab719e0-0f1e-4cf9-bc2a-5ecfcad2b5f8 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc2a16e2-1b3d-4218-926f-6eaae54c45e0 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0d2198a-b294-4f0d-821c-579fcfa211e4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:105fd90b-71e2-4e29-bb4a-4f4831fbd1d5 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e92767c3-5879-471b-b7f6-42d8d394426b phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a79b370f-5af0-42e5-85ac-5359042ccc4b phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d69fb183-0b4a-4e63-af6d-9baf4104cdf2 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f63860df-d015-4a32-8ade-08772e87b34c phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e84484b0-f717-49b1-b6ab-3aa44b4ed027 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0031535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c482a13e-5fe6-41f9-bc3c-7ee231420de0 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c9774ae-0d40-4b1d-a8b7-9f4c83d7795c phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a22a8bb-2be1-4339-9fa7-f43f80c148c3 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0032049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22d89619-c9b7-44cf-bcd1-d320f51c3f90 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0032054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32910ca9-afa5-43cf-b8e3-34572e81a3cf phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6374b8a0-b883-44cc-99a2-2df4ddafb66f phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4ecb08b-8cfa-495b-913e-b24988d50f95 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff952f9b-dd59-4019-9832-ea261e953570 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d41adc35-6ab8-4f89-a36e-b934d7cd0086 phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:84c96e70-644a-4fb3-a2af-2d7f0ff97986 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0011175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0dbe1501-04a8-47e5-8ecf-9ecb4357d3ad phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38ca0301-afe5-4eb3-bb55-e792245bcd5d phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:deddf57d-492e-49a5-9031-67755e7a982f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27ceba68-cc56-4669-a77f-9cda1c72b11c phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ededc0e-6fb2-4cd7-8943-daa7808b1e45 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d658b809-57c7-4f98-9bc0-29c66ad133f1 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9bdd4a59-9c7e-4119-893c-a09f5c3de7e9 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72479eb6-0722-4a16-9293-6ea82f20e322 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c20f5bf3-5304-4be2-88fb-7a0ff7c17be7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:968c00d0-73a5-4777-a328-b2410d8f427f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:011c96a0-e466-49dc-9e2f-358ed46559d8 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:96f6a3b9-a067-4660-80dd-6625bcc07b48 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2feb5584-7ecf-4caf-9d68-0e41c3130ca8 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ed2e6dba-914e-48e9-8a5f-7bc5e89c2ed9 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3311b3ae-1dd1-4142-bfba-98d9ac3b246a phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3822d396-a1e3-4feb-b9f7-1543839d089f phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_phenotype HP:0012747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e65b5f1c-1c06-4647-8b5e-e5f9a78b8092 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8bd84162-7469-4a40-a339-9a6793579265 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26c52910-0725-4f97-b64b-81bdb4831947 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e92f57e-e31b-47fb-9fbe-db51d8e7f2d0 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:489c877f-8d73-44db-a008-d64c275effba phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c3ce2c27-0642-43d1-b133-fc32414e4829 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c9f0d24-2616-4a02-91a3-fb2390824529 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dac12df7-f0a9-4812-82ac-8de211e32117 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc7a25db-6515-4d23-8ff1-72eca3229daf phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f791519-47bc-4559-9f60-9db30874edef phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb68b269-56cf-409e-9aa5-7ec09c7c09d7 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a1866a9-d453-48c7-b884-6f5ffaaa0b53 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef3ff445-fe2b-4904-ac60-6da27ea3ef89 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:833f138a-7e6b-469f-a404-d16d70c67f12 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c47eba64-c04c-4150-a23f-7e5c7f7925f0 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:408c9317-2f71-4c52-9a5f-3fec98a9cac5 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5d965c3-dd03-40f2-a45f-a8ad0dd7eb4a phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eaf6abf0-4407-4deb-8a26-060b271fee4c phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4fd00cc-b261-4990-9364-5d866c099239 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e08bfcbc-062d-4932-b388-496766f72619 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fee30f3f-eff8-4181-b2f3-f5d54b360353 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b8f8ea5-f208-41e6-a8dd-ae144422fdf1 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbe165a1-5099-451b-893b-faad5ebd7234 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f1f41a5d-9278-4f1d-8fba-4bb59f2ff2c0 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2dba076-97ac-4b65-837c-40f441ce502c phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9d16089-6fa7-4ba7-9cf9-a0292d93a07c phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce5f0ef1-946f-4747-8f3e-c0452200e800 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d174a7ac-863e-4646-ab7d-1f0cbd9903f1 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2fc8dd36-4001-46e2-96fd-f219bbf95930 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ae80c4a2-35a6-4424-b388-35479d35a296 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f4bb33e-81c9-40d3-9d1f-a19d28a40343 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3b234985-cb61-4e7c-97fc-dfcface1cc3f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca21c7e9-8deb-4424-af5a-3f83386ac89c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45802765-42b5-4cfc-86d7-dedce39782d9 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0dad27b8-3dc5-4dc8-8b26-4d23c9eec249 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:966f223a-2e3a-466b-9fb3-8e7d0a16899c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0002530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:739ae039-ee3d-4a5c-9598-3333c043acb2 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0200049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48300195-4e11-41d2-91d0-df3eee3ba730 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5aaac790-dabf-4929-8545-58a8bf96d439 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ee21e7b-a63f-4775-a504-900a27fb2a4c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e658198f-e7ca-47e6-9dc1-23f7a33d51d3 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a9a1fae1-f168-4c55-9dab-764f3cac992d phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:52527181-a9ee-4339-9b5e-5e2fa68b5fdf phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e0ed12f4-2458-4502-b5da-6fc2ddf3a209 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21f5d56d-606a-4aac-9447-b666660f12a0 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e6bc062b-62f7-4dd7-8b9c-6d0393fa086f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43903f25-f7d5-4450-8c37-8d3b5811b4c4 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9f7d026-2696-440f-91c4-68005ad96330 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b30e4a4a-dea4-4ad9-bdc5-400636175094 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cfa7495e-2e7e-4fdf-9bec-b1e3650fcb86 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fd206007-2e81-4bab-9c20-f76d6e3bd446 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f947af8-6821-46c6-bc9c-e54021581a95 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:134e0bd3-a033-4812-9e08-22ad6d6782c0 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35323bdc-48df-4fac-bd50-bc3d9a13c4ad phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce43c5f5-4f5f-4580-a638-84fbceadf36a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4507e8b2-56e2-4a0e-aeff-f0d2e237a0d5 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8b09a608-0114-4492-b07b-4ddd715e11f3 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3b09eb45-9b0d-4eeb-8735-03c2d930c67a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P6 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81f96a71-d3e9-4c0f-bb57-1f37f092808d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P6 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cf0a58b4-d40c-4771-ad13-19a18bac598f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eef18535-2ed3-4ed6-80f5-895f8b7d61c3 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:34611682-0dca-4b0c-b47d-099cb4096f05 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4968d92e-fcff-4587-aaa4-7bb8281ba827 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23151 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37139af0-4573-4e7d-87c3-73d11151c37d phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23151 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea03a684-7e30-4693-a685-b7a7a85bdcaa phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23151 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f424fb51-44de-43c8-848e-a8398f69e2cb phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23151 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a509fb28-6c25-4b26-93c4-103ab7ca0696 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1233 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a6dd1ed4-64cb-493d-b395-66d8e6b7aa46 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1233 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddeeeb5f-d05e-453a-b6ed-58a2829b5e0d phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1233 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9d5a5a60-1787-4c03-9846-479c26180874 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1233 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:984c4fac-433a-4c53-8d47-e2015055498a phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2100baea-3f8f-4324-a25b-93694cf97b22 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8746e41a-b6f7-4dbf-af2b-1baa4c3d4718 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d3a7848-7c84-4b0a-8ce2-c4c8551d44cc phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72a88565-4a0e-45a3-bb83-edb51b054d4a phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f2c3a90-d81b-48b6-a0ab-c7c521e45c03 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4e2794b-b0c5-4606-aab9-8c59be422ace phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24b0fee5-957a-41d1-900d-e8da3ac54113 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b61dd546-5089-425c-ab07-cf972d353efe phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:029a5a67-1ff8-4589-98f8-c3ae51a23993 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0031960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1a32338-ac26-40bc-9f47-f9df434f6629 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22f2efaf-04e4-4430-b68f-562bcb0b5a2f phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:858c8543-9515-4789-9ab9-92c128c1cb23 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:439d31cb-4dec-49ee-b3fd-979f7f42c599 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:18ff0f35-f670-4a1e-b712-f5bed1edd5cd phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:694ee7fa-92c6-4e0b-96d3-96d55593b908 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9ca11e6-3928-427d-a432-1f50408c41ec phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48c59988-f7e5-4a3c-9964-c455fb18207b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c41d596-32ff-4481-8521-94d1090f59cf phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86464db6-74b6-402a-b1a3-fd3ca5475eea phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5c26530-c1cb-4c5d-9728-3529a58843f8 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce58a131-f378-4a12-978d-df56c47d0805 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26f438c8-9930-4711-a0e0-ad9b74b222a9 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:caafc936-bfb5-470c-b88b-b9c6e5fec9ef phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0041b7b3-57fa-4c85-b6e0-c8957c99a084 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08d9a156-0235-48b6-a2a4-5db9e086b7cb phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5cbf6cf7-2169-4a59-9483-c3413d32de2f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0fb5bac-39f7-4947-87a4-704c16c187ad phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb1b98ee-1438-4f84-b94e-5faf32ed53be phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4255e1b7-c9f3-4fa3-955e-cf8d23f4ad31 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:da8b0ac4-87d9-4589-846d-bd2ae7152675 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5ad3ba1-12b1-408a-851e-04ea7bbd2d60 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:01803558-b5b4-410c-8319-df2eead55dc5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:035ceb20-aa67-425c-bce7-eee8e455b4a6 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02572bf2-7bd0-4ec1-b919-2c44c444565b phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:680083fb-7700-4a0f-ab3b-1b86bd122c91 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e4dc956-b386-4297-bf3c-0cdbea51244c phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a075b17b-2565-4c29-bebf-53399ed165fb phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f663e363-5d60-413e-b5ee-06102aba460b phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0012762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:460813fe-04ed-4d28-9570-acb3feb68419 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea23dd0f-b1aa-412a-89e1-06c46673286e phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f411ace-338c-445c-ab1c-8ded16ccfa01 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ccb54ce5-f65f-4ff1-b6fe-f066ff2f8d90 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_phenotype HP:0010847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:368162c2-a706-4b14-b76e-70eb21363255 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e0f6359b-017b-4ab2-8b32-8cc4bec8fbff phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:762dd65b-59b8-4e0f-a530-dedc4db4be13 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P25 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db582173-ed09-4588-94c8-01fc8218b534 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:081fd83c-4fcf-41c2-8be9-aecba0510e62 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P25 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41264f88-aca6-409d-938c-fb7c3441d9b7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P25 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2d0ff11c-a281-4a14-b958-9e1e81505a72 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P25 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:beeac067-c54f-49ee-a5ac-1801c604d8b8 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e67a9e56-e508-48d1-a733-34fa7abbf037 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09b291bb-4589-4fba-85e4-a69676dc25bd phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cba072f-9ec7-4d9f-abb6-6350b298f3c1 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80772cd6-be0c-4f1b-8dcb-205dbe4f133f phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b16ec579-712b-4830-8f17-5b28e9d9b698 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:46f93d50-6190-4abd-b33d-650afab28cae phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4526518d-b7af-470b-b32a-b1f7d67d8b2c phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abf0865f-837d-4cf7-b9d9-add8a306e744 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:898cd5fb-8a38-4cf7-86a9-e39ea106e822 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cee43584-37cc-4660-8cc0-c49abcbe6d75 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9868a636-d28a-4633-813f-9f12305a8358 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b766e122-54e0-4a28-9643-5022af1207f0 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8ceefc62-97e3-4784-b9f7-34f794e2c0e0 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:527a132f-1530-475f-ae2a-e0136443bdde phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2daffe81-cc27-421b-8f27-47ffe07bbe3f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbb3afcd-f1dc-4331-80f2-a04004659499 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0012172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d2e2074-6fe6-44a1-bc5b-59169e3ec628 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:083a9908-c9be-4f43-934d-f6600596fe2a phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6ae1b9f-b72c-43ab-aa41-45d20f549341 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0009062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:524e1f07-3909-4fe1-9c84-413f25539e43 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4a9ad47-0aef-4cfc-be13-34757ff28803 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c753eac-9fd0-46a8-aa7b-c3b88a36239f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fbc0f959-8815-48c0-87bd-67e3dc194098 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:61f221c8-4957-4588-b7fa-c3479776107d phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2465fc5c-c137-40af-8357-6ba6709ad9cf phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b239df0-9cae-456c-bdfa-87040074c419 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a8fd1c0-b2ee-440b-84c0-ee1912a2fcd5 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6db8b96f-51cf-4f04-851a-ad36f11d09b3 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39947776-fdb1-4add-b45b-6c218efff731 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4be9c20e-b2b4-4304-8563-e5642cf024a2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1f9764f-6e90-45d9-ab60-ec0b3cab0165 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4242925c-fdf2-4586-8fce-33faf588cd8d phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb948f07-f278-477f-ba00-430e422785ff phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0011099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f928b82-0b82-4423-a774-b0421d6c706c phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8776e91c-23d3-42f9-91f5-91178d24afce phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d22f5353-dd13-46d2-883f-1f32c94b028d phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b7ee593-03b9-4cfb-90ae-8a8844d3454c phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30efd0e9-9dd5-40d3-9f4d-08397ddd2199 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:206ef3d5-211b-451d-949c-169a9ced5c79 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0010993 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d48575a6-5eee-4b57-b754-66b2193d550c phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43259cb6-9485-4f9f-9b2a-69fa7cd1b731 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:650a3dfa-4852-4b81-98e6-51788863a335 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0049467-1b1d-4d10-b2a6-865cf4496bf9 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:79e20562-3172-42ba-9690-e632c3ae3596 phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c9e0bde8-28cf-42dc-a3f6-d5bf71c68da2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7511854-44b4-481f-917d-327105a27aa5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9bc32627-5c95-40b0-b4ef-f92361487c6f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6eec4e0a-6405-440c-b459-324ddaaf98a6 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac8fda21-3e3b-4b33-a859-7bd8385bb08f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d494d5b9-935d-46e6-b95c-f1a2a9e2f323 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fab0bdf2-d1d1-49c0-a3da-d276dc0c449f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P38 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b7fe5d2-e596-4aba-910b-1d900d26756f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fa57dbb-7a05-4c8c-ba9e-b2a683c468fb phenopacket.store:STXBP1.PMID_35190816_STX_G3_P38 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8dbaab70-1cf7-4502-a9f9-3c1276c08013 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P38 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:59527eb5-4a6c-488b-85c8-df4167cf327c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P38 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d9f7d85d-0e38-461f-bff1-a733c4b04b31 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b671ffb9-d53e-4453-b071-e9a0bf110808 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d166a5a-0747-4f04-bf4c-de78fe06c4e4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abb8f755-7d7e-4322-8133-0994c5b272a9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bad4640d-1b56-43a4-80f2-e9b25cf6fdb2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0009062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1822d0cd-2a47-4787-9459-b6e465adf227 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2387f4e-29c3-4411-815b-dbf1055133f4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e31b7dc-65e4-431b-9661-655e689f105a phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ace3a82-f714-4a29-9513-41e767ff99a7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a83db4e9-1b2c-45f0-882b-f5ddf3568bd3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99abc8eb-0220-4327-878d-4149eefd07bd phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9192841-ebaa-4a6a-8dfb-b312ccee2ecd phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2039a073-a21d-47d9-bb0f-90f506bf1285 phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bc5bd48e-bed2-41fe-b10b-08b6770cbd4a phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:69acc5f4-1ec2-4f4f-aea6-b20b5d411d9c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:571959d8-b3be-478b-8925-2a3146625802 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93169721-ebb8-4bf3-b95e-bbb2e1611cb0 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8655fe5d-0c8a-4916-8baa-318811b7c331 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a54e0ac8-4235-4ff9-bf7f-0d19bd22bbc9 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0002174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92dafbf6-2c8e-4d27-98aa-bb0ea961704c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a91f2e89-e151-40bd-a6f7-333e387e1fe4 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:690ac2ea-de60-473d-adba-735c3dbdfc9a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0100738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:400b44fc-9662-4124-be1c-36185dcd99f5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:886b29be-a826-4c7f-b872-5ea8a0edd72a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4abdfd0-afcf-4fd3-90a0-205d9e970938 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6bbb5bc2-3683-40cc-a2db-09d28ef817fc phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:951da84a-9db3-40d8-aa84-8d615601ad9b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:be14993e-8602-4259-b6e9-e20b0a936f77 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8358cc28-8401-41d4-b446-82617ccb0f20 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb181c2f-52b1-498d-9a6e-fbbf1873124f phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e487291d-9a69-45e6-9bb1-5d0c62c5d530 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6d1c799-2524-4b5a-bb73-e70b647090a1 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0002793 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:437c6747-c7c8-4434-a835-3363633c4214 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c7a525d-38a1-4364-aaa8-13a0567da635 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6d12c049-bfbc-454a-acb3-a516a6173b56 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:738ea4b4-2627-46da-8df2-dcb02d264efc phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be66ac4c-f8f3-409a-a168-428606b8f2b4 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d36ae50e-fd5e-41ee-bdd6-6427a6685fbe phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a9d09c6f-63e3-4f3b-8e86-01c04ccca0f4 phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f827d447-9e0b-4ce9-abad-997872a48c1e phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cdc3c45c-8f39-443c-91c3-e790b603ae5a phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5cd08f9d-6839-4561-b7a7-b6d50171ad17 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdb4d030-c7db-4042-a12f-b347bed64428 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4db45ca3-20cf-49ea-a357-77def600e59a phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d306d9e-d2c8-49c8-bcf6-9bf02b66ec6d phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e386d5b-232d-426e-b35a-35a457def416 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0003429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00d3c8ab-52ce-4aa3-b8ec-a512cc8f6220 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ac38055-93fa-47d0-a2e4-503ae0bb1b9c phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0e76eb8-5623-4b85-a2d7-394667929af2 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:956a1df7-715a-4a11-9d48-eb653a479beb phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ef224e5-9212-49bc-b97c-17a1b42ef5d8 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:05ebdf2a-c0a6-4d60-9bbd-c00943894912 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:23805da2-8901-4eb2-a744-ca7492c484a0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:94111552-19d4-4115-9ff7-a1c78fd824b2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0000602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:350390cb-fde4-49ca-9262-8bb9749ab435 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0000364 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bec6f4cf-f8f1-4385-8926-5d049cc30383 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6fa269f6-6384-48c2-ba46-1f0f851eb656 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c1a2689-f69e-45a8-8444-d9762b5b80ab phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92f42dc8-a3b3-42c4-a9bd-0931efca12b1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:47c03a2c-673f-48c5-9f85-5c22f8ef08e6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c66bfb8e-ee59-460c-bff7-680f51b821fb phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9108e40c-3688-4772-bd06-1c88e80f4f11 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_phenotype HP:0002427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a328181-b07b-4f22-839d-8f33c06316c5 phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1a1917dc-39c0-460a-8a53-7fe8d36efcff phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c489f392-9042-49cd-9bb3-3d97bc8cc78e phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1a7bbbd-e07c-49c1-99b5-9effbbeb7f37 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:025138c3-eb7b-43c9-a9ec-36c7d019980f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9562ab1f-776c-4438-8409-fe939aa1f8cb phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb9545e1-5434-408e-8656-06028d569db4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26c4fd0d-c3d9-4cf9-b228-0cf2c809540e phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e4bd6847-847c-4237-828b-2c5ab38eb3bc phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b9f365be-b4e2-47d7-b758-d10cbbd0e2ee phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:563e7a28-4299-463e-a340-73a3f0d6a688 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09e55dbc-e00f-4fb9-95a4-6fa4d719398f phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cada263c-a6df-462e-b341-6dc5ba4c40b4 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8886dcb-f909-4016-82b6-de9674bc5f42 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3c035db4-05bc-423b-b741-ee25964686e2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b525af96-c460-4324-ba60-18e3742c0e9e phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92d7ac0b-4803-4ab3-8ada-f00888e9d178 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09e4ba2b-5061-4066-8227-95dbd3cc60de phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:babd0ed5-1043-48ae-b460-dc6553c8cfae phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28d2bcd5-d63c-4451-8f36-ac53d2d28128 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1764cef2-a0f5-4902-b5db-effb35a28743 phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:53e34d62-71f9-4b0f-be7c-d6f569843761 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6cd7382-103c-4512-9856-45a8be1f3f15 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23ac0d66-0fef-4767-a2a1-4079fd56c788 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b20277af-6e77-4e2b-a959-a731c46639ae phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73aa6806-ff2b-4858-8b8b-9d4ab735625e phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18d80306-48fd-4b43-b5ef-6f2da1ef38b8 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3834d1a-1b10-4b6d-98db-e74ff1ec6c9d phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0002362 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6dffc2ad-7b5b-48fc-8f65-3b090a9fb035 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0aaae093-0235-44bb-a945-355973c58c4b phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0011296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7877237-a11b-45ec-ba1f-c36bd5e10a37 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0004755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a10e37a-8e60-4815-8529-f59828d5a907 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d31db785-561e-44c1-ab1e-59a86a2c760b phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0031491 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f2443fc-42d4-4ed6-bb16-c2396bc6c95b phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b011cbc-bafc-40a8-8c92-84958c8fc9e4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42d93173-7ff1-4f14-890f-3966c7abfcb6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f85dab8-7849-40f8-aee6-94f7378e9f8e phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cc7bd27-8402-424f-8170-aea423aa664d phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a2c26edd-0d67-4e44-b326-36e64a01d2ac phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5b7565a2-d78d-41cf-9f4b-0b49ab0f35d0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:605a11d4-9a1f-4226-bcde-012f27d56bcf phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a9578da-0e73-4c1a-ae1a-5f20794202cf phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75f29b63-aa2c-440f-99b9-43d08232167b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:238184ed-3aa5-456f-9896-bebdcb25e1d4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:505677d3-3105-4950-b643-a0d301fafb9c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e50466f9-386f-4572-a859-1e4d382c2367 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f063d1ab-a88d-415d-bde8-74d258122e48 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1df9faec-8652-4284-80d4-874b64a66806 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e86fcd24-a0c3-4a5c-8e5d-67e70e4818cb phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c719a2b8-7990-4922-af0b-6b3550039616 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fea14ca2-8f86-48c7-85a6-0c7677683367 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6484d1af-6feb-413c-8aaa-dc9f9214cc69 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acf9e78a-1e9e-4c21-8298-28560bd4b65c phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:573d16de-8394-4106-9904-aff10dac0293 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5a033fa-6dd3-480f-9b19-0e654f3e775e phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b43ac06c-6dc1-4da3-8eaf-2a040878e0b5 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4c239b7b-1505-447f-92af-f7e47a2f22f5 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1f82435-e1a5-4503-b868-2597ebf8ff8b phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eea21b18-17a3-45b5-98c7-98c85363c70d phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4eb71085-9a7d-4d14-b4b9-71f86f7620a2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a02302b2-6197-4a45-9e18-5c503b4a36fc phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6be35db8-50dc-4ef9-90b0-05a687ae2809 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:286c08e2-4350-45ac-a622-a033a1c6d483 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64d7ef8d-78b6-411c-9606-90f94dd48061 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87f637a1-c47b-4b1c-8ef3-b036e564aff2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:caa06d9c-f589-4583-b0a1-f208f0afae87 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0011206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7811946-3afb-4d4b-bf13-97d98c13ebfb phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:54ab78ff-90a9-477a-8825-b12e709e3b31 phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef0c1a4a-b558-4436-9977-a89baca8f27b phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ff83239b-a4ef-40ff-8623-9d3a2fb1513c phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0bf99e32-59e7-4131-9e54-dcc9e851f62e phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c09e8b84-3590-40af-969b-7d7285dc3916 phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:798b7dab-38ba-42cc-979b-b6f60fc227b8 phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:726aed42-a386-49be-8a40-8f8f8944785e phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:893d6f35-0b81-4ff2-a987-fea26b5caed7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38637103-aa38-4852-8b15-544dde713cd9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba5703f9-20c5-4207-aa48-1a4dd5016aa6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0002406 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4af5d115-438d-48b3-9b04-1c30b0b137e0 phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3ee9030-bf58-4e7a-908d-4d7fdccb825f phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:062d0988-b8c3-4b6a-b573-b556d5cf432f phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fb0045d2-465b-4b66-b434-44887b4dc07e phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:57517421-b94f-487b-b699-9991878a371d phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91bd8f15-e484-48f6-92f8-1488ad31465e phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a5331fc-34d7-490d-9ba9-95b3db875a79 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7933c66-4696-4e99-8a79-35648f33c359 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fabbff1-4228-41c6-a345-a9651476bde8 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:341d74ce-7a54-4f07-8f1c-2c613876f612 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f1790af-75f1-4260-9de9-c00678307510 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cd47951d-5dfe-4b4d-9431-625e2cf0568d phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6410abe9-0a12-4cd4-9fea-9091cb2cddcc phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0f0b1a9-d8dc-4070-b538-5f4c17c7729b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e4d3b76-e93c-447b-9fd8-94d035181ac7 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca31ea43-7a80-4fa8-b38b-241e9ffb1188 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9245465-c108-453b-8209-1f0ce2e2c93a phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1dc7bcd4-e5b3-426b-9779-3da553306ee9 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ebde3bbe-e849-4933-938e-c23761231443 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eafd54cb-ed64-4bda-b09c-d14a4f97599e phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13f2fe61-5b24-4d86-bc6b-5e8cd3d45628 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2f156c4-edbc-4f34-8059-1b81fe61975f phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c4d4acc2-90c9-41d6-ba51-223fb000dfe6 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d26f824a-f238-4108-919a-7d0fe652e9b3 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0015ba7b-7955-4f38-83c2-afa9b3591fa0 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f97046f6-24fe-45af-b6cd-93f158902f46 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35e5cca8-2cff-40d6-b6cc-4247b42d0472 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0a28819-720b-467a-8b30-dd56c7ab7677 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2386921-6528-4cf2-8c53-3ac7e16a8a1e phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e670d33-45f8-48c9-a344-2d45cc631ac9 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bd480b53-b356-4d56-9642-41b5bf9ec6e1 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1933f56a-2dea-4628-870e-17d66a94648f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75236500-8b8e-44ac-adb7-0056a28db94f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:90b36f70-5ea1-46f2-a600-29809a916214 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb19e125-2de8-4feb-bb65-f91acdeafde7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:493b1d45-584a-4d49-8735-ef78d457c7c2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:319ebf8a-f693-4837-acaf-cf1483d89c5f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:31ea06f6-495e-4032-9d34-e1c8f11a6663 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile12 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2d2111a-7b44-46d7-9492-706a5f00ce90 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35a46ed6-fee0-421e-971a-8e92bffb2ee0 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile12 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52918eba-2103-449d-8937-faa7df80949f phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3cadaf6e-e325-4c4b-8f6b-c4c8b98cf067 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:311905f3-8a7d-46cd-982f-bee539531c70 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60415a5a-5188-4186-ac9e-3d4b9d86a314 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8bfc6169-d478-43c5-b9d9-0edb8023de90 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14e127a2-3de4-4ed7-ade1-3f55e92bdd46 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f9033a1-0522-4ea4-abe8-5d8a9331eb36 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6dfc487e-3cea-42fa-841a-d9197351e904 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ee76d205-1442-4ea1-9419-3cb3b6149bf9 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:370a9519-1f1d-4ded-932d-119f7c8937d2 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2eb58174-b47e-4751-ad90-7761ca9b8288 phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b7c9af39-7aa3-47cd-ad3a-95649fb2febd phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:85872791-162f-4162-b4b4-447474bec95d phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bafa958c-c816-4b1c-a726-ad57cea0f085 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e68ff48-66f9-48af-a6f1-102017e6c420 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b5daf76-9982-468b-a065-19dac048982b phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0030724 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5ca0d8ba-8de3-478e-9a2b-871c25681b15 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27866216-0363-43f1-8243-21d229f89aa1 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2555221-bae0-41c4-b44a-cb1e407cd060 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:893d4175-15e3-4298-b1c7-5b36339d3910 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f7c8ce1-6aaf-4692-b520-4096420c4c13 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c202795-6cf3-453c-bf89-5d94bc8e878a phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f382b37b-7e87-48dd-9374-aced5b4647e4 phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c9cca764-9a2a-4af5-8b02-4739bc81048f phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fcccce54-d1d8-4db1-9a94-bd972decbad3 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d444b09d-3c52-422d-9b01-32882298633b phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67bdfbaa-c025-4872-aee0-21a43d2d3e5a phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f9c0d53-4023-4813-9813-401f61257cb5 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:084dbae8-3a4f-4d7d-bdc8-0ecf3dd4276c phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3bce9a5-352a-49b3-9947-e299f00a2a58 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a1c1556-a043-471f-8119-ac6e7d18118e phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f3ac6f95-20a5-459f-8387-4dcb7626b987 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9d0d2510-6051-465e-87c0-733d894c9ca6 phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_243 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:71b7461d-3d51-47e6-90e3-b380eebc8074 phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_243 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0355c482-60d1-4e88-97a9-ecd05869a767 phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_243 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e48d54a-9ef0-4a09-8aff-8f68b4084c0f phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_243 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a821b053-df82-4761-91d8-49db4fc17d6f phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_243 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5a35ea53-50dc-4a4c-b495-4e4c3e000cf2 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8064cd38-af89-4cc7-9bcd-ab66e75efcfa phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:746ca9e9-4352-4827-84e1-8e1aa614fa6d phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0002312 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca8129c2-9830-4b03-911b-6a9e6ce03302 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d0580dc-229d-4524-9ba4-42d02127815b phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:da8a16bc-f81d-4274-bc80-ba431678f178 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abb10bc9-bfd0-4b67-beaa-ee55a05c0c17 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a6b8a20-5868-43f2-90d3-af7829deb7e9 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44238f04-6fd9-428c-99f3-0d2f5ae911ea phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3142aad5-c3d5-4393-8752-9c6bd18223cf phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:923797c2-f35d-4345-a320-cb188daac597 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0008386 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba83661a-622c-44d4-b280-b705de9de071 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af9cfbfb-c6fa-498f-bff8-fdc1c308c260 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0000177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb057a61-d722-41f8-b939-dd8de5462935 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ccd2df6a-d667-4e30-b2d4-cd2b75930fa3 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d3797e73-0cd3-458f-a70b-dbef6d0d1a00 phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:dd7b6ffb-1ca1-486d-8d27-e304d91cbe69 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db58308b-d6c3-4e6b-b4fe-9e0d60562eaa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:332622a2-165d-4e12-9bd1-01b6ab9ad185 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c7557b8-4bdc-4d3b-9e36-503721642196 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:562f85e8-fea6-4af6-b43f-fbde55274feb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:76a8e575-9544-41cf-8274-3059aff74235 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d954caba-1760-4024-8c66-63ee4657ec8b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b2c6465-502a-4248-9258-aadc54bfcf2f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6418683b-e212-4ff7-94b9-3010836e3855 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4737b8e7-0db7-4592-923b-623436cebddd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6651067e-6272-4e2c-9ce4-d1219efa77c1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f507707-bdc1-4bb2-9f46-7cf0ee16db70 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24b1876c-01e4-42e6-977b-920e91c59a8b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3dc70765-d8f6-445b-a21f-5d5119c07e7e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91851527-e653-42d8-9d89-d164b5ceb6b8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af2be816-9450-4e73-b0ec-a6a4328ab1cd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21443110-91d9-42f2-9bd3-b6ce4734c264 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5cc7f463-77de-42d3-a2a4-0fae7fb676ee phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fdfd6bf9-f719-4144-be39-c1b06569bf3b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:835d23ac-4b2d-42d4-8683-18402cfbaf08 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d0d96a92-afcc-4cb9-a97e-39d168609f49 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ca2bd0f5-073b-4f91-8f98-4fd1fcc31bc0 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ac06e5d-d5b2-423e-9b2b-cef3030d4f1b phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aaf69afd-98f2-4bdb-9eb8-5e9dde92e1f1 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:585f447a-77a7-4d28-b992-e7e144278f3c phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60fcde5f-0598-4dc1-aef0-7e451a2739c7 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:904fb950-444c-46ee-a244-18d7d1365802 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f40bec8-c8cc-4fa6-b108-468830fb077b phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:078b95f8-d6f9-46ed-a5aa-3fc3f1b560d7 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:34e4a758-2da5-49cc-976c-dfbe4042f80a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac1436ff-f395-42a0-aff1-99eaee80c0f7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e6c146e-5754-4e90-86f0-69284265c534 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0000826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80a93ebf-f283-4873-aa57-3e8df93b78fd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0011293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2dc56fca-6698-4080-b49b-1381bfaa5925 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4fbbf536-0235-4b1c-8cfe-64d6488d9d2a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c63244f7-7a99-4f15-92a9-6536e3e23360 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0011296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:57e276c2-77f5-4fc0-b3f0-00cafbf5e787 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a14865f-d407-458a-a67f-cff2581e80db phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:660048fb-362e-414c-ae95-01d89a7c1795 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5fd076b4-54f6-4672-b755-4ca57f238827 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:579c00b8-fa72-409c-9103-1640c741326e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4482d0e-b0f4-4b1c-95ff-ff3705ab32b7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8daeeafc-3edb-40b3-bed2-280c46237b84 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc443773-6d1d-42d1-94e4-52aced5f80e9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c8f27a9-484b-4fbd-8117-d6ec43f9eaff phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68b6e29e-f6aa-4ac0-a6a2-df8e8ecded38 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a24cd71-09da-4bcc-a498-0be7750330aa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b4f8a169-cb23-475f-8971-2a9d367abf6b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b9d777d1-e5c1-4b65-b6b7-7843edbd6aab phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37771571-46ca-4721-8a2a-362dd869b3a8 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17334ed7-6846-4da1-9376-3e3e9e0e124c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:da1989c3-d55d-47fd-91e9-b402222f1f79 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:807cef90-f32c-4e4a-9746-573e929dce1d phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3b28a064-662f-4ae3-9aaf-01b0d8bc61c1 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:799ea579-daf9-4374-9339-cdc771e53a74 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:123acc91-9e1d-42df-8aec-bab335b12629 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a10803d-ce29-4eef-af73-49f0a32274bf phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:57a683e7-d1b8-444b-9b72-4bc1748f7f92 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42fe5dd3-4e92-471c-a2cc-70305983e90c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24cd950a-a233-4629-b959-db2bdddb7d4e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a61fc487-21c8-4096-8fca-4b90a8bb3f2c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:85113130-22aa-4075-88e7-3040578f70ec phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8f36a697-8ffb-482b-8241-ebb2536a8a3d phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efabee50-d149-493b-b559-d29bb53a067f phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8233b401-ec09-47ca-8447-8c9e16f3e661 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9ba2bcb5-376e-4c04-88d6-d13e493447b9 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32ad3e51-0ca7-438d-805a-6d3792eb2f8a phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d27ccdb-541e-4ce4-98a2-5a33d9404fb0 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8b05004-8ad0-4ba3-96a3-6b4a5941a9e6 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e768d5bd-7caa-4282-a9b9-20075a7e3861 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0011412 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b1309ba-b805-493f-95d4-7ff33dadf6b0 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4950da4-da8c-46d6-b0df-e722f33572f7 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1569787-dd9b-42c5-a243-4127335ca7a1 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0011470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f505526b-a79e-49b6-b65c-5a5c69db15ad phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:298a87d0-2d7a-44ee-8b04-be8c4b39feb2 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c1d1c4b-f525-446a-a09f-85b71e1af7c2 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fdd9ee05-f9e9-47e2-94f1-0c4b7ebf2484 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a360a54d-12ff-46d0-8120-beb4eaa3081c phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28e2b27f-6bee-41c8-a263-d4eca5ace794 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0007328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17e4ea3d-a91c-4331-867f-33bd542f4341 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e405d24-a32d-42a5-847d-434b945410a6 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b786494-4ac4-4c3e-9807-943c2d69e86e phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0bf56400-72e0-498c-9726-246a1ff14f15 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc79c34c-86ce-46ff-bbdf-91c21a011820 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:807778ba-1c5c-4baa-afe6-add6a274d384 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0006834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99c05bba-c0f0-4037-87b1-6358aec0509a phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:289ae722-6dd1-4c99-99c4-cc45ec7c0fb3 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0100738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5eb22b75-0fb0-4c6a-bcff-72c3db5ef1b1 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0012658 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1de1c8f-f0eb-4e1d-b253-420c84be33f6 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3e5d26d-c3ca-4017-b268-9898c7df7cb9 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:098062c0-8707-4423-957b-ce44dade4fb1 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0145354-43c2-4f99-8902-7532f3931a98 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a936704-ddeb-4bd1-8464-1e14f5217bfd phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a4bf03e-5e14-4371-8be9-866fbf2001a7 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc6bd52a-c627-4fcf-b48b-979a00da64ca phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2dd4d186-3412-4be7-bd30-397bf0ed3968 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5f70fd2a-deb8-46bf-b0bf-dc9cfcf77446 phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:64c2c52c-470f-46e2-a46f-6dd12a86f092 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f532977-2b14-447f-bcb9-d69d965757f4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c082ff4e-0b69-4220-89fe-5fe8d25e0e4c phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21f28122-d319-4f70-8122-7ad0803d287b phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d29dcc4-b812-4afb-b1f1-c5ce4b4006ad phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:848ddf34-0c45-4ab8-a0a8-e276b1020881 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f1cd43d-1b47-4931-b61e-582d4f2c8022 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bb9605f4-7011-4dd1-bcfe-d3f75128c018 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a2529a22-caf2-4541-abc6-89978decf100 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1186c1f6-e10c-49b4-ad68-06b7c100dc24 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4139ed5-136b-402a-9663-f695458d90de phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6670508b-d23a-4d4d-aa50-b6dbe173e4f4 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44cb46c7-5130-4ce3-ac34-9f6f5f9e1079 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0030765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4fd19604-b4a4-4fc1-bcc2-6880f5e575fc phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7ab3076-81f7-4a8b-8961-53bdeb949306 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0007015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8966a90-5289-4149-a12b-158166d9f9e5 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_phenotype HP:0012012 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6286845d-efee-4995-b9fc-43ee934d85aa phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ebcbc7cd-4277-40f5-bd10-afbf9698ab9b phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6524b45d-9f4d-4934-8f09-f194b17f2a39 phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:600c6252-08ba-4e31-8add-da78f1296f4b phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9374f73e-ba2a-4a85-a959-c4b1967ef460 phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfe247c5-1f89-41b4-9095-796afc20c420 phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50be4ead-a1e5-425f-99bd-d099ede1d8c1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ef03c81-618b-40c4-84fb-5549200a5a1f phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d2067e0-34a5-457e-a511-5c2dee5a3ebe phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bfcb8ea5-0797-434f-a155-554d60de60c9 phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ae48f899-bbea-4ae7-a420-2b207d19fc00 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b15b582-fcb8-4c45-a193-1adc6597c43e phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a321c16-81b2-456b-8ce1-30f4c78e53bb phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:332e209e-191e-4ef4-a5ea-8234caa87465 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a6e7fae-26cf-43a4-be23-401ba1993ac0 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b8d1fce-1b4f-462f-8610-510e5ec113ce phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e663a25a-f452-43ca-af49-76938768aea2 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b931a15f-2786-424d-9a38-b583e3abf48d phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8cdf6e89-01a1-429d-84e0-6b1cd406f004 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0fd0e90b-97ea-46cc-b337-65f3fd5d2fd7 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc9fc63a-4067-4cbc-8836-f3e049eba6d6 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91f842a5-0374-479e-9d32-b84fad0b05b4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6318f45-14b8-4fcf-99b8-0798e6f2b723 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5fceaf6-5acf-4e87-a8cc-9fb684c6c226 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58177543-27f0-485c-940e-324a1b524943 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75e1eaab-0251-42c7-99ea-0ea291854130 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5773350f-1bfc-4db1-a9b7-b33a7a55625d phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1514a1c8-0fe6-4ed3-8de5-a00c94faa58c phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0025160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85046981-8af2-432d-9408-09b8c6827f22 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23bc7dd6-41d2-4979-ae5a-f7f594554770 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8cb8b227-c483-4cfd-9862-70216482e9ac phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c1c95eca-9075-4076-a53c-608a985f9a2f phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0e36984-07ea-430f-b53c-1deeb2c83b2e phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dfd99f60-f59b-4729-8b8c-a42815bbc6a4 phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0286441-2154-45b6-8879-35d08364fd6d phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfb02b58-ac28-452f-aac9-f2de7a7188a7 phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:29780722-da1a-4e70-980d-7955b5c77fa0 phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7bcebe0d-30bb-48ee-a5f2-be669e99d371 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c0cb2d3-7d7b-492c-9c15-414dd54ca091 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0036e3a3-a240-4bef-9426-3a4fa8c3d3d8 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33b3709d-56cd-46e1-bf92-c02ddd5784e7 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b91d75d0-5146-4dc6-915b-8524fd74f765 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2298a639-9366-4c18-84dd-6cc104b2dfa2 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4732794-8c8b-40c6-a5dc-a2dc998c8741 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7ae92d8a-8dca-4d8f-9b12-ad59f600ba9c phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b0e9f1c3-3487-40ae-9e8a-9b330992026d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:daae32ab-9b47-4b1f-91e5-f7a3f827e3ae phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5130c095-0071-40a9-9c4c-b98c47dfe4ae phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3444c87-7793-47af-8db3-ef1e7720e818 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0011289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be3c11e3-3742-4e4e-8f42-28b5c3886046 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cf4b8c9-1cde-415c-bc6f-7b4c7a4089c7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:beb5922d-590e-4d69-b4a9-7bc695a50f80 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21d0cd00-053d-4853-956a-d88653f22898 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3080e016-4921-4fe4-a4d7-5dd559ec00df phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de909ceb-3228-4272-8794-f345d106c55a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73aeaf4b-c99c-4ccd-9203-da0faabe0e79 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89e17781-de0e-4524-a6ad-5e7d2bee5b1f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab065b5c-4b09-4cfb-935f-75e422cb341f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21d0a8a7-e6db-4650-be0d-38d80c0d1570 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5f787ba-83de-49eb-8857-ad7c42753246 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:482baf7f-bbf6-4049-97d5-152bb18ae332 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:54866aed-5473-4044-9967-790d604605c3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:79d3473c-3f31-4b23-bdda-e78e4e9f9f78 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37e35798-cfe8-4b3c-a917-d03b87f5e9ee phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c39c3f9-56b8-401d-a90c-ecee0d0fa9fd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2430e620-bc94-4e96-bfed-eebdbd49ce24 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55a251f0-b016-48aa-8f31-f260c718e011 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1314774c-98f9-48bb-98df-09d03a3fdfbb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09dbab02-7240-4e58-b619-576c02be96c1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e47dc77-d46b-407a-9ad8-3741f9cdbc0a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38389ca8-2658-4bdf-89aa-5bda8d4fe91b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6fc86fab-cb97-4ec4-89c0-59861886008d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0007311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:88b395be-ae31-47a3-8984-52ad12a0f0e3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c797821-d826-4c0e-a317-357738ec52c2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d91a15a2-6c07-4506-9577-90656dc321d5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0011290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:feb276e4-e771-4755-891a-f4bf3852c572 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b6f0cf0-a939-4f3a-9f9d-84ad0e3ae230 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:674636b3-5457-4337-9a84-7b218b645d89 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d71927ba-c818-44f9-a14f-c019fd46e229 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85a96c60-4bbf-4525-a5c9-2eca02acb5c0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b8ce6f1-c541-45fa-a87f-72ef0bee02dc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6bfed6a6-09bb-4a60-9285-dc0d6e39a413 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7add1421-efe3-420c-bf1a-5902a5e3829d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c87f36c-c23d-40be-a034-2b4d0d669f0d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d97ffc17-9971-42e5-b023-ce819ba5ac13 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e3aef30-fde3-4d43-adf6-5ec84dc977d7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42bce5d8-1782-401f-ac31-2c4465feb48d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56a890d3-420b-4747-91c0-097ef4fd590b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2cfa4941-5721-4ab6-a3d1-5965fa3a4bf1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:df7386a7-51b9-498e-b56f-47c0cee33940 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ffeb379f-8607-4ec4-9ecd-d0a3b82c1adb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c34e7d5c-3bfd-47b9-9449-f8f5ca97dd8f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45a692ad-f8b7-46bb-b422-cdc49c7849d7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:883e306f-e325-46b3-a75a-7c0a89b111aa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:defb03f8-1276-4c89-b64b-1aa7562bc79f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b7f3985-ec48-4d9b-b601-8358bddaabf4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51c40fc8-50a5-4026-9bfd-92672e571ae0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0410031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:36073229-5970-4ac4-a06b-42cf18793cbc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27411d20-70c1-4876-8f35-705a1011e3ba phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9fb958f-3872-4072-bc35-d6114159ea67 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ae7d9fb-2ba4-4d06-a428-fcce2c498884 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_phenotype HP:0002487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09cdb6d0-8057-40cc-9d77-266637c258a4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b0361107-50e7-4b27-82a9-ffc7d036c0da phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:16928967-1d8c-4314-9cda-bfab5a5e6a6d phenopacket.store:STXBP1.PMID_35190816_STX_Seoul_Lee_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20b14c5a-3302-4de6-a51a-e22129071e7e phenopacket.store:STXBP1.PMID_35190816_STX_Seoul_Lee_Patient_1 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39aafd0a-15a3-4c33-be52-2cca2296e75f phenopacket.store:STXBP1.PMID_35190816_STX_Seoul_Lee_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d60d102e-c0e3-4a3c-ab6e-74cd259ecbea phenopacket.store:STXBP1.PMID_35190816_STX_Seoul_Lee_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:757c0695-e65c-4f39-aa04-f142d7a45cb2 phenopacket.store:STXBP1.PMID_35190816_STX_Seoul_Lee_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6f79ffcb-dc8d-4dd0-b87e-b3952d6e74dd phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_3 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca26050c-76be-43ca-beca-22a780b05c1d phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d98e9379-f942-4648-af70-e0184ef67694 phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9596528e-1e7f-4eb8-b1a2-e726b3ae1416 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P35 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b7d3260-d78c-4fbe-8430-5ea7e1154ecb phenopacket.store:STXBP1.PMID_35190816_STX_G3_P35 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a16b91d9-ac2d-4254-bc56-6138fab8a56c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P35 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:10fc94fe-3518-4d6f-8a80-64fff509c6a4 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P35 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:da9158cb-69b8-4882-beed-c11d82b02977 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P35 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:60c44890-e3c7-4142-99d2-b573c4c5fd44 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8574c357-f8f2-4fc1-8137-2e4cf6f5be4c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf1c0e54-ab94-4bd0-95ce-027c77f3deb6 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dcf99055-c45d-40c1-8303-1e1b7fdcb691 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99cfc361-86ff-4988-a0b7-5604f3f12b99 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c318dd8b-3a98-436a-b8cc-b10deb8fc608 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1de8ffc9-67de-442e-9341-2d160e6fbee8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f50dcfa-d6e0-4bcc-ba86-f416e0b8766a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41f6bf0e-15d6-42ba-9725-17b71cbf6c0e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bbce33e9-4fad-4dc2-adf4-2650328220dc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4e450c16-7cbb-4561-b995-4547ba7877d5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e2389ea-6421-4fcd-aebe-5d957a83d268 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e7c2d77-d9f5-485a-9374-a8d53b515944 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7af64045-b813-48a3-b3c2-4afe0a61bb47 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fce2d346-0f94-4a0b-899f-885c5091980f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33c7b733-f028-4d3e-9ed2-3314930f0787 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:88fbfa47-6115-4f78-9d28-b3033ecf2b7e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d828dc72-cbbe-49da-83eb-8bd1801a68b7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1726c8f9-491c-4993-a8a0-2203e07cbc86 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:303aa98c-20a6-477a-81b4-086b6dd5accc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42d99334-7918-4866-be54-cd8536677426 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91758ac0-a60d-459f-8502-b6e0c99682a0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bbac2ef6-3419-4d0e-949e-0cb451ac7d15 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0002067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b3facd3-32ee-458e-9b9c-a6bf1138eeaa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75d920f7-f346-4f62-87a9-6aae7a14f55c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:06bd9644-d512-4ee8-bc05-2122624c2f87 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:54b83438-f239-4bad-894f-6e08de94dd0d phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce0d05dd-5878-42bf-b573-3d426208d7e4 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:631eb16d-f99e-4d4d-9aea-7d799beda1af phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b37cd5de-2063-42c3-8613-a476176b8baa phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48268f15-0711-489e-9ad8-da611f081d01 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4fb2010e-cb49-425b-ad17-1ec22dff5702 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2e05c640-f7dc-4a96-b243-7672c0cf6f57 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac339424-5e9a-4f44-bd5e-bb12c6a3312b phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:341a9b81-1dca-4149-bd3c-19afedc30083 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68b3ddf8-ba76-4b57-915d-ae06dbf6e036 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2231d4ec-b3c6-4f7c-9510-f35e92b8a602 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7f9ae4d8-5320-44ef-9706-4ab67788fffe phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bed6b93c-1892-49d6-a424-c936ce41a701 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35e16439-4f09-48d9-9037-be0d19086f19 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b523473-44c4-4823-ba15-8a7229bd552d phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7a673aa-6e1e-444d-bc19-4d100c76defe phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6aef115f-1d8a-4249-904c-b29ea1e0ee8c phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68aba37b-5ff9-4a4d-b471-6b44f7cc9386 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:588206ed-8591-480c-a041-5f360ff5f6e9 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:54c5ff95-aa26-4b60-9b5a-70551dfe4c54 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0007281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04294b9c-b2a6-4dd5-8dfd-0b3c1d9e0f45 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2fe2d987-3af6-41d0-aa88-7816b82848f8 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59816715-807f-4651-97f7-df776e2c35ee phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c23786fa-7922-4f6b-b569-ee1b9c7a33da phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1991d0f2-ed76-416d-9766-9a7dadaf8955 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b62c6b95-e6f3-444a-a28f-b4cc44db43cd phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03aa407e-f0e0-4a04-a851-57f22f7f556a phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:43549d75-9970-477f-bcf6-821c5f320dd8 phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4597806e-fbc1-41b1-9649-e9a54313818b phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0003474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fe7ec3c-b982-4608-a791-15096530f801 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4358e571-14f2-4679-99a8-8d9bba8dc087 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5a575f9-7522-4aa1-b83b-dc11c857ed71 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0020036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58f5c416-16e6-4497-9974-7b7697acb4d7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0007057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e1b60c0-0267-4f23-bce4-a9528fdcc0f6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2e5d966a-6604-4bc5-bef9-a5072f712d7e phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b798abb-4651-4bdf-9552-b3d74da4298e phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb1da28e-3cff-411f-b5a3-075acfbc5468 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba8bb0fe-4463-49a4-b41c-088adec6459c phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f3e0b820-487b-44a6-a114-d85c666ca9d3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:78b796e2-ecfa-4211-9cc1-7944e6c7e249 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1214 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29ac45f0-676c-4d03-b52a-f9c0d88f2478 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1214 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45909f61-5abc-4e5e-b036-aea79585605b phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1214 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:def0bc6a-cf5c-4bf7-a607-6af93149887e phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1214 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8de56d39-d88a-4c9a-b530-c9ed096c0419 phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1214 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0de1bfc3-d855-45a1-97d4-73aeb81041e1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45fb684b-7e67-48dc-92b5-8efacb0dadfd phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d3bbddd-53ec-4727-81c8-d18791a2a89a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cb985ef-5162-4bb2-af0e-fa88e8bb9301 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67804424-76ee-4e4a-a2a5-560d4baa0fe1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f2e5adc-5b13-4fce-8bc8-ac3fb2314612 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4ff9434-4c9a-4b1b-a880-0b97ef3063ab phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a2b717d4-3f4f-43ec-b316-4db3f56e4786 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0006808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f20028f1-a393-4ebd-998c-711b40be1124 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7eb257d-8a8c-49ed-9027-d597e185d5e1 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdd5d882-b8c3-4740-88cb-3b957c710f8c phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ee2c1ce8-9910-47b2-b583-c927558f18e4 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:372cc850-5a28-487b-beaa-2294e547789d phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a752c5c9-530d-40d3-93ba-068673bd2e9c phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5c295a75-5828-4662-bb1c-7a80978d14ab phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_62 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb1e1e55-a069-4b33-b5fb-e3b01b3ed490 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_62 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c73dc2d-f0cc-40ee-a386-2e468ddea543 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_62 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a3633639-5081-48e6-91be-a12ea30d6936 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_62 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a1377f0f-7ca7-4130-aa1d-ebe5964039b0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24a2e3a8-790a-4c64-9497-7791d6c5ed7f phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41a38577-3158-4c7a-a1a9-e4f2fa4f0bb1 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87a1f609-1c21-4caf-aa3f-0490fffb7ca0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:46ffb64d-9317-4a92-a1d8-7f5c448ff370 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4122c08-466a-4998-8541-5dd103cbce5e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:258327ed-99cf-4d8b-8075-c185aa61981d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ea8ef3c-e51a-4fe1-960e-73dbd7c208a0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f96cbbb6-70a1-4a56-8481-806f912c8dfa phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c67bebf4-ed85-4d41-82bb-148ab24b8e69 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b30afa77-76f0-445a-b9fe-5b6ce00ad4aa phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:375ba4c5-4e24-4ec8-a210-b5786c4451fc phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:46b711ed-2b37-4b11-9f94-f3229379892e phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:281b1fda-3ec6-4171-9a5e-99608300d1ed phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:093c5a07-6a1b-4a1c-9f1c-6bf8bc3eac6e phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81d43452-af28-4790-9938-57d663e0f4d2 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7f07aea-04d4-481e-8497-b5b82875d78a phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28b61b12-a6a2-4e41-932d-5aed917cc871 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ca845ec-04d3-46ad-97db-dbce8da442bb phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fe32a45d-b2fc-411c-bdc1-d6797063631b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:40eac25d-45bf-4e75-856b-448103e4b683 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4a3fcbfe-742c-43f2-9855-40713b098eac phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0b31b62-da42-4b45-8ccf-f7b3c95f6988 phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:has_phenotype HP:0004324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f27be8be-8199-46f6-b0ce-9a8fe01a0e98 phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:997539aa-693f-4e35-8a58-e67d80a721c3 phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c79af0cc-19ee-48cc-880d-a55af7a9bb3f phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b90a7b9d-8a37-4342-8d89-418a20099230 phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:80d350e7-96c9-4030-aca2-8a2cb3dee61a phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:90cfd7e4-e8b3-4d37-b93e-ba07c62f8231 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a62dc488-0801-4063-aba1-3e440eae3a9a phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c2a0aaea-442e-4bb3-95f9-5e22e92d1f23 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:727fd4e7-32df-4a6e-9d97-bcf5dee77029 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d26ddd34-aa17-43e0-947c-90cd7eda5575 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d0424a5f-5f38-49a2-94c7-eb515e440504 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b6a86a0-acc4-4022-9da8-769c9d0a646b phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c92803db-5891-4d1b-8286-18d64cdfe278 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8bfd831e-190a-4277-8862-1d37034f9ab3 phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_phenotype HP:0000240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35190816 uuid:0d0675eb-922d-45ec-a800-8f3b2d48f1bf phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:20186fa5-c35c-4ec4-8a3c-8c571acbb14a phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2315587a-7b8e-49df-87fd-4bcd213948f6 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85e25fef-eecb-40f4-9173-b42044b1fabd phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a673ced3-da7a-44e0-85b2-edddd39d38f5 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_phenotype HP:0011291 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41a57474-1fc1-4741-84e5-408035b52b9a phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_phenotype HP:0011288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6dc3b75d-5b08-4650-8580-935853e22ee1 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e2cceeb-1564-4dc9-94cd-b7177944d9f8 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cd1859b2-d3f6-42ab-9413-b1a171533291 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:60e8d7eb-6cbd-4bc9-9e34-a3ab9e5ebebb phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:097aa941-5b33-4d77-838e-eb8d6a07c9d7 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:40678988-7663-42dd-ad2c-b756ef401fed phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5ffec3e-ef62-43c1-93d6-bdef16831a7c phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1a6b4e1-a756-4227-a670-e9c9fe72daed phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0011210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:774f35b5-aa66-4772-84f5-a055f1650541 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0011296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09f43d82-80fa-41ad-873d-79581e4eeb43 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0430022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f01fd514-c1d1-4f23-bccd-792c69002ff8 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:558ca859-89f8-465f-a1b1-d3b3e0aaee36 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9b7f566d-60c6-42d8-b7bc-6e468d3e51ef phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b32e919-9059-4219-82ea-301b795df864 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9154e16b-4656-4adc-a785-e962668da3c2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32d355df-aa70-4f09-899e-055403614133 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0006999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fa0d3dd9-6eb0-4844-ac74-d1ea07c48dae phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b6431b9-6306-48aa-84be-4d2e8204dfaf phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc46ce49-40ad-47e0-86c4-f3c27cc4a668 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:daf276f1-a9f2-4365-bcc6-f9caf8dc83fb phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78b6ef4c-e921-4d3e-9c12-f04f1c7686c1 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b552e3e-a70e-4ed9-b9bd-dfbd94244a5f phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:791eff8d-a689-434d-8532-12d0c3bad344 phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bab618ba-bad1-485c-9774-90960fafde94 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56402c2f-9909-4914-b231-ecc0933aee20 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:729a63a1-2116-4a22-a4d1-b4c83b6edf60 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d52a5e3-3f7c-42ea-a6d4-f943c21692d0 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33fb07e1-89d6-44ec-8a47-e666ccfb721a phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1bb2b27a-f90a-46c6-82a8-a20c3d012b37 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24f6d049-f277-4cc0-a691-1f562f0071ae phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2dd94bd0-f1d6-4f53-b036-4c02c2538041 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_phenotype HP:0031960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf2992d5-a6a3-44c2-a5ba-b0497a43b8aa phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fc66c898-32af-4a50-8075-241aaf3d415f phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e38a8fc3-e6c9-4037-9d84-b73e15a16144 phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4e8fa378-de0c-47ee-aaf3-cdbd7baf582c phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02c766ca-e344-4feb-b603-835a546d4796 phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25c20968-2712-4047-9f80-839b9112b31a phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eca25448-db71-4fcc-859d-eca42b10df1e phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:410f8bbe-fcbb-4c76-8e97-e07d76e5aa0c phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a9f866c4-6bb1-4716-bea8-c72b502f992a phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a14f46e3-7a63-4dd0-adf2-6a1422d60601 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:571df4fe-e708-42c5-b443-c63e51c887ab phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b1a3d5fe-1a22-40a5-85f4-0ec235789e2e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e668c168-4afd-4160-bc85-ecf057c428f5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91ad8203-01cf-4e31-b461-8efbbf3e1b87 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6570c947-81b7-4d91-b094-245dbc62cca1 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4392dd8a-9413-4ef5-ae39-a69791b2866e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f1bae750-612c-474c-b204-0b84c3c36dd3 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:196a684c-f8fc-46de-a73d-5aa414868c21 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3087285b-1d53-4eb0-a144-4096c5bff855 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e851304-57de-482d-aedb-82eeef90d889 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:231881a3-1f55-4f65-8008-c753d5a0d4f0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e46a7e1d-6e9a-498a-bf27-576839d28911 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c64ee7fb-a696-4ce0-9758-3117bb84d3b2 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81d3d858-2811-4c30-938a-357803791f42 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:545a8910-ad34-4c1f-9cbf-446646098151 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9839dbbe-ef5c-435e-ac00-765bcc219aa4 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:858ef090-1829-4e5d-82ef-487f3bd73987 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6cba944-ee87-45f3-833b-659dea5200db phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f25ae7fe-c2a1-4fed-976f-6930d14d6585 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d0958873-d600-4023-aa7f-9b9184ff83bb phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c74b876f-d02f-44a0-85ef-0c62f2978e6a phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:220a6408-a1d9-49ec-bbc9-5d5c872ab030 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c7a20b7-74db-4113-9efa-425e18b3277b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea8c640e-ed0e-4c59-8218-d24fd88a77b9 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b01d3137-704c-4c66-bd07-c7a7126c8b3b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a900185a-fdeb-4ba9-801b-12be5eacfca1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:996bf12b-9609-4544-853d-e6d1efc24e6f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2453fc90-1828-4462-903c-547c9d9139d8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b3ebc3f-9a94-47f6-a2e7-20a86844145f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac60aeb3-1446-49e9-a261-01243d3f6603 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4389d695-8cba-488e-a597-be8aaed63442 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0006794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e6de170-9412-41db-a176-934cc02c4fa5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e6cc2905-782d-4b1b-8790-2190879b54e3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdccead6-0b6e-4a13-b7ad-76ad0db3e9a9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67fa3fb8-edb0-4c04-ba76-fcfa22173cb2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e146e6a2-c3f1-47d7-84d8-0cc80ba706fb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48ccf523-62c8-4a72-8ce9-5f02e50b2607 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82c5c904-e0c6-473d-b132-99a8da3e5068 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cbfbbc43-fa85-418a-8374-07444dc2291a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:22020944-32b9-41db-bdfd-35a71bbae16b phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0032755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef916dca-9461-4261-a019-fcb603914bd2 phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:340294ca-50ca-4746-8fc2-619c7b3c7d7b phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2da8adb0-ae8d-4c0f-9c7e-3f63a5d55e53 phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5974b4a-5109-421c-91dd-dc8fcebd71db phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f39dcbd-013a-44d2-9ee5-14a0ecea8177 phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ccdd084c-6616-491a-b0fc-318135fc3732 phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e6b03aea-5e97-4c37-b5df-215bfa7aff22 phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_phenotype HP:0011342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86e8589b-e993-4540-b7e1-651c611a2a0c phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a72366e3-5bdc-4a35-9948-49b96cc660d5 phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b9e41f83-06fd-43a8-9b06-7451d08089ed phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c290814-9721-4eb1-be5b-792373d4a9e9 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e806aa58-b470-4e1c-8cd6-ba84da1b96cc phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1492010c-351d-42da-bf64-4158ef109a6a phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f272404-886b-4e44-8758-92c51afaaca1 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:16908ef0-c915-4cf6-86d9-64c668f316b9 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c75ff46a-b242-420b-af5b-81ae10d81530 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e5a1c5c-7b5b-49c1-8d04-ca001158bcf0 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:19dacb3f-6177-4486-ad79-d34ff54a9a17 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cbc6222a-62b0-4dc2-8bd6-dd4ba395e859 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de57f250-55da-4b46-9080-43c2361fc7b4 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0f57170-fa33-4a88-91f5-b249197205df phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c86dfe8-080d-4d87-b81f-11178956d4d5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8acc5a68-f9b8-4c78-890a-63726df837d1 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:14cbdab0-0f71-4416-b9f2-b8a78784ee0d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f2f7fc15-6a92-460f-90a7-52b72150e4e0 phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b16ec28e-d0c9-4764-99e9-81b5159ac752 phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3c772bf3-7890-43a6-a5fa-78ca06dbf1bf phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae086037-b25b-4b44-8a33-6e2d9c05bdf8 phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c2e95c34-6f6f-4d1f-9c3b-6f37fa40eb32 phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:233ed458-a8b7-4a92-9d60-e1aecfd944a3 phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:966097f9-f398-4d73-8453-f2461167cd2e phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e2a69efc-7fe2-4122-8b9a-11f1b69dc217 phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79784808-f014-42b2-9325-21b2b3392b3d phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:has_phenotype HP:0011443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f85fa85-c7a4-4832-83ed-1729f28770a7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72e64e99-78d1-49ab-a2f2-4684d5eda9d3 phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5bc8a001-fd4d-47ba-81c9-ca56699b905e phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0a01a786-e6bd-4d1c-81d6-4ec0d43878de phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fc86cb8a-553d-44de-919b-2c2798987f9a phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20033946-782a-4375-b6b7-fb1916c94819 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0000271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8077e0cb-937f-4c6d-86ce-7d6959d6be9d phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0009062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b7453b4-f77b-48d6-9184-ac0de432180b phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b8899fd8-03a2-46d5-ab64-3d17efdb520c phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb4524fc-e842-4c2b-a9bd-2db53035173c phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a69a6f06-f692-4ce0-9118-1183f3a52371 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:486da57a-ac1e-48eb-9d10-c5fbea2c7a45 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fe9e8d08-8e97-4e25-ae73-016255899c89 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:596b3ff2-f14b-4442-8f56-9f4ffd6c96a7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:300a6f91-15bf-4176-a94a-86de536bd5c2 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7876d6e6-8d18-434d-a489-db43a66d0f7c phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b296e0de-6544-4379-a95a-c06609291f0f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8dd8210-0ef8-4dcd-8d92-ce78fc054acb phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60d54912-ed6e-44b4-824c-2d9706becb99 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00bb67d3-fbde-47dd-b151-cee6e6bc686a phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:349270fa-4a96-4f2b-b8bf-2fddfc57c4b3 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:001c0e54-3c73-4535-8177-5fa6fc69ecd2 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0002381 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5b82667-f257-4972-a85e-6053c47712df phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9568deb1-92d7-4d1a-9f5a-1c531537afab phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ca9557d-fed6-4e5e-a0a6-57c5b17c2bc7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:133b4888-39d1-4548-aa81-2689dec29bc7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:383d8329-b36f-4600-ba52-ef5a17cdcf89 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:795dd651-edfa-40c9-94bb-ff1b33959ddd phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ada6498e-b567-4eb7-a1af-4eb42becd60a phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6e4ba2c7-ec23-498e-a128-cadb941194fd phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cf9b502-64d0-41aa-b274-222a7b6daa0d phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cc79575-1b21-4692-a628-872378b29082 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2942abab-e3e8-4a5c-8258-a8b0348a8e3b phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a32eb3e3-98da-4feb-beff-ed8c0886cd59 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99800b72-087c-41a3-9999-acc1dd4f97c3 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8e214dc-af1a-4674-9266-862b2bd0961f phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2763328-6ad0-462f-9bd7-8dee3be6c8d3 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cee04a25-19db-4990-935d-c90fea6a19ff phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41f529d0-baf1-42ec-8677-76800a576601 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0c5bea27-440c-4dc2-a66e-ae9b75be8298 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7964a978-ddf7-42cf-bdbb-8d31763a2cec phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3fa4317-bf50-41a0-a6fc-58933fad165f phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef1066d4-0692-4803-9dfa-338f5ae920f3 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4587b20-d68b-43b4-8f30-1b4cee5ab90e phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0011173 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3b59000-426b-48a8-b619-1d2b6dbdb460 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0003785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ae0aa56-ed90-44f7-9992-a808bfb25d29 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fe8dcda0-28b5-4efc-973f-dc5802f6daf0 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:edb36274-aa01-4ebb-974b-76a5bc397935 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83a060c0-3c4b-4f1d-ac15-c45fdb561fa6 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f2ce9453-aff3-4971-9965-e01059df554a phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed65d58a-72b7-412f-9542-061c1c256702 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0025455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c991c63-45f5-4562-89c7-bf610dbeb117 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:decf84fd-0d1c-4975-840b-cfcafb1befce phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2fdfc7cc-2445-4f43-9518-dd99324c2ed7 phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cf700835-fa92-4ecd-8acd-c5ca200585ee phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3bebd123-c9fc-4b85-882a-54d9e0ac2ef7 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6e5a00d-526e-43b5-9362-c535f4454f19 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b0b4560-08d7-4bc8-9b64-5ac70ae97920 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03c06ba2-7d2f-4286-9f28-082de0652df6 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b01698dc-eec4-4292-9a07-a797a5f07822 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61d75c36-9264-403b-849c-f87ad625105a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8fe5b3f-7a3b-4e95-8c8f-5a8a509a1c0a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc86d57f-50fb-48c9-be04-954aa4ce0629 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:89590877-6b40-4084-b050-8930c85be004 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:936c7c7a-a453-4e71-9e42-846ab702ca3a phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0653e50e-2307-412c-a98e-19a153af1b82 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ef353fa-ab91-4f65-ace5-aa364da0ba89 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f8ed0bd-6e56-497c-af8a-f83c4fd63a6b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a8ac281-da12-41d6-8eff-645518a9fd97 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44619df5-49ba-49cb-b5c4-34ddc6769377 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34536456-404c-4e09-bc2b-f4943030b1b4 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed83d605-b739-4143-b3d9-9166d28d6236 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb89fbeb-ce21-43c8-a793-9e77fe31879a phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43ef5c04-6a4a-4990-8947-0ffaa233fa6c phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0001620 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4e3ddb34-46c0-43ec-af60-64cbdb38b07f phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:135e0ca0-15b2-4baf-9a88-223f9cae610b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dbaf9cb9-a8de-44a9-9c85-ac0fe718c470 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8103ff2a-f7e1-484f-a77b-8bfc20cd6469 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c61b4f62-407a-4035-8aa8-00123a389c8b phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:eda83332-5fb8-4c39-873f-884789d50a19 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9b824707-0691-4bf0-996d-fe56b8dcef90 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23122 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19728738-a786-46bc-9099-e177618b7822 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23122 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b454cf6-8759-4bb3-b93a-abbdb9c266db phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23122 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:223cd021-fb36-470c-9cae-bc4bebd42d06 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23122 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5847eb75-09c4-4217-b6a2-f99efca66329 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_WJL biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f0a919c-b416-4772-8125-2ad87c35555a phenopacket.store:STXBP1.PMID_35190816_STX_27779742_WJL biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a36d43c-9878-4127-bce6-5ee52cbbe4ba phenopacket.store:STXBP1.PMID_35190816_STX_27779742_WJL biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:38863b4a-b9c5-4d10-8d76-2afb24c1e49f phenopacket.store:STXBP1.PMID_35190816_STX_27779742_WJL biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7fa5bf7b-c546-4458-b449-f50ecb5a773d phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2a3a54e-0167-465e-85de-a1aa863acaba phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4cd0071-6ed3-4e18-b9f6-ad23d51ba7aa phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:765a1187-a154-4186-a644-af8453486faf phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0334e8e4-839b-4e6c-9d83-2ed561340bdd phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:479ba544-b98f-4d6f-923d-0591bfa5cab5 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0c068d27-086f-4e14-8f04-453a55563ecb phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0cd96bf2-c2b3-44dd-a5e1-337c7cd810be phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f9bfcac-88d6-4ed9-80cb-a6b402c3afea phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23ea52b4-2fa9-4f8c-8d84-3965be45b403 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d452fc5-4d4f-40b1-bd57-8150bbbaddf1 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c6226f8-816f-4273-a5a2-f36be09cbfbe phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0012015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70f2dd3c-e989-428b-8ad3-bb5b2ac7f6f2 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd0af799-1bbb-48ba-888e-bc117979883c phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3af40f17-c397-4b51-a221-a8fd461fe66d phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a59b2f29-a322-425c-899d-21750a5a3560 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a677ac27-bacf-4518-807d-ea7f2b21e542 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:501f7fc6-5e4e-43b2-b4de-36768b9cef1d phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2454fd10-1900-46bd-bd23-85b99aaaaa79 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5966b90-0770-49bb-ab57-11503626cafe phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:88d7c0e6-85d7-4c25-8326-190846154757 phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:75a80587-3885-40a2-b420-f1d375bccb1b phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b13d4621-a120-4357-af54-e28f29435aed phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37115465-ca32-4f79-afbf-5a3281baab70 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:62eda4dc-ea55-42cf-a902-5c08d3d2334d phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb237513-635a-4543-82d5-30d6af4083d0 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:680de8e4-0c70-4c9d-ac79-1a8c535ba644 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f12a673-9b35-4b84-9546-28d23bffc3e6 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ba87da7-8ada-4543-bccc-ff7165665431 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8338fbdb-0b29-46e0-adf4-4320283c21ac phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30c7a03b-bb24-4d14-be6e-d122a43a7245 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b4c4fff-59b3-49fd-94ff-8cfbbcfcd2ec phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f7ecdf3-cfb4-4178-8566-d1062d4f1645 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:661bebbb-b33d-41d8-99f3-5dec5db8419e phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9058a539-d933-447e-8e23-a29176652723 phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0938e07c-2fff-47b9-8973-f53d0c115055 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b7af235a-052c-43ab-ba8b-27e8f39ffd84 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08860415-2fe8-41aa-b944-7dc1a6b14f79 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0012172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5a5d24bb-f67d-4c93-a4ef-ef3842ffe937 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4439a2d3-ab88-4c06-8841-c42871d5d0c5 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:96ecc006-1d34-4d4b-af1d-fda6f5ccc153 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:603de29d-b338-47bb-8419-946fafdfcf5a phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ad4b0dd5-5256-414f-a8d0-147aed5a69ae phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13903bb0-18c7-40c1-8375-fe14b571afa9 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c85cb5a8-564f-414c-b31e-3b35be48c7bb phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:961a9136-e87c-487d-a283-380fb3d73226 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:154a808b-2c03-4353-8dd8-4b6f08c20952 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:21309994-c207-4bf2-a7b2-a7e5003722a5 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e29ffc56-0853-4391-aef3-3bff48c90dd8 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7eead0e9-54d9-4a57-bf66-489e5593e764 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d955c81d-7bd1-48e3-9869-8602f4ea01cd phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8cc1c5d2-883c-4adc-a365-463e27777946 phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_phenotype HP:0010847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5ced664-b152-4949-a3e2-0ae80ea39c1f phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8f929ffe-3c91-4760-81ca-91db596fa5cb phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:85603f7e-2b59-41f8-af97-1f16c308cd46 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:228e09cc-b0fb-4be2-b3f4-d7268d0569bb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e96f60e-13d3-4856-8546-9f283f5ac9fd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:164de531-cea4-40bb-a838-07bc0dc84030 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cc95597-a7fd-4a70-b1ff-58ec79e7f133 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3d7dd27-b23b-469a-93e8-f59a45177680 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0012172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0a7acd3-300d-42e5-96e9-24ed01805d51 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:968a8193-dfa2-48da-8061-c774807e7297 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aac4de56-c775-4c99-8f2e-3176ab430d31 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d3d7d19-fcb6-4e1d-a186-6524f2f7abe5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd9a3f65-b0df-4262-9caf-c8428e7179db phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0661a669-1f04-476c-8ea1-50d98d33b0e2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a6c315c-e0bd-4123-92d8-76a11ad674da phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6476d8c9-bc96-4d92-acf9-6733c7d170b3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39200ce6-2176-407b-be46-fc2282cc8b5d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e85af901-bf68-43f5-a0ab-9d03e786823c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67b05619-73d8-45b5-ad06-27401dd15fb2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ced9cb6-f44e-4508-b831-f4aa30848cf0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:be4873fb-9835-4f54-8169-2392be2ef203 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:496ec385-f9f9-476a-a0aa-2de5f5230e1e phenopacket.store:STXBP1.PMID_35190816_STX_G3_P18 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b987f1a-d9a8-4d0f-baba-44b6b3e1eac0 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P18 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6996fbc5-cfcf-426c-81aa-c38b44a0fba5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d443021e-eeb1-485e-aeca-459aaf1ec3e4 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P18 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6132bee0-019b-4d5a-82dd-9eeaa3263c8c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P18 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e7e96c8e-e834-49e5-b154-888028197076 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f672058-102f-4fc2-8e56-b770a17cd64c phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64122d2d-2b39-499d-bb04-466dac71f596 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07f569b3-e2be-44ea-ac8c-3fa418aebbd7 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66c33757-9fe8-41e5-a943-c7fb46a9bf1b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab2e63e8-5f99-4d85-83f2-ffa623726a65 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b8df2f1b-ede0-4954-ae20-7995802a6c87 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea3fc7ce-2fe2-4c69-80e5-968a1d8883ab phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43d8e844-98f1-478b-9241-3fc5f901bd3a phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02260ba8-35c8-424b-9b5f-7fe19fc86f8b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99ce7f75-59e4-4092-8811-c7deaa2a04cd phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3889a61e-1014-4bd3-9ce7-22dd1dfa3193 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83fbbb4f-466a-4144-9530-9b1ac29abf8b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:251e28a7-d7be-43e2-b50b-7c4f200c690e phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db88d753-daaf-4e5b-82d4-8763bff2af8e phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:94c76754-d299-436d-b2a2-121faf15f795 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ffe15e8-8560-4cd8-bcf9-62fc6c53985d phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:863501b6-c278-4c18-9d26-5147f209579a phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7de7beac-fcf4-4db5-86c6-fe95b1320501 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8b9c6a31-ba4a-415a-8cb8-bd5d482e6d02 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d74dbccd-12d6-46ae-8166-8a2fc53ed6c1 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:695892fc-dc36-4102-b738-e7743f6d6c87 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8ecd251-9644-44c8-92a6-b0b04cab79da phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5fb5f8b-f13b-46c2-905f-6b86d5da3317 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3b018c10-e7d8-4c60-95b4-345a042c8cce phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:33c4ed94-f326-4ebe-8edb-b83f701a54f5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b4998331-5012-4b76-af3c-ec60623d6227 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9ef582a-d403-4b45-8a6d-c089b8a92598 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P12 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef3bad99-9212-4445-8bfd-311562c11be5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58cc9f30-ed44-41fc-832f-16841770406f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a6b5a96b-ff5a-4e99-b945-46a481a3f8fc phenopacket.store:STXBP1.PMID_35190816_STX_G3_P12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6600dd08-29b2-41bb-86bb-2e42ef08c7d7 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca5dcfb0-14e8-4d4c-b371-a1471721dc8c phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52aa4ff9-5f8b-402a-bb62-9d19ce864f1f phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0011191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2c62554-50ab-49a8-a8cd-500f63cec341 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43cce910-2b87-45db-869f-01259dea90f9 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14ed4b98-9799-443b-b0be-1efdd97e65ec phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:226afbeb-4c72-4286-87e1-b6b8cba55a63 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93491910-bc3a-4b30-bdb0-bb4ff7e5b0fa phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9155e072-cd44-43fa-b5e2-6a091bdd465d phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9ba305eb-fd05-4e46-9006-7e30c52bc9f8 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f8d9aa83-38cf-400f-a229-efd2ebff0e36 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f4f8837a-9ed8-4943-a8db-45e90f96c8df phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce5cf326-d5f4-4234-8f95-67033237bdcc phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19152997-4e5a-4735-8c7c-01dcd6fde7f6 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50e9a94b-8f4e-4430-97d5-29116f2e7a3c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a06aa10a-241a-4368-abe7-de1cc35213c5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f3c420e-9f5a-4f38-98e2-8a9084307472 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b7d0eb8b-4cb8-4fdf-b238-c8f5723312ee phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0012452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9f82b29-91ba-4801-b62d-c5924c8d69ba phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6038435d-3070-4a71-981e-72e9d93ee4bb phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38792c53-5bcd-4e10-b370-2763427c4bc5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03dfc584-6e1c-4914-a12f-2b6a6acf3200 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3bb3cb23-5d78-46bc-be4b-1d8da2ef45ff phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:910a0066-b12c-4d45-be24-80e5f9d2e080 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f7203deb-6881-4b81-894e-62da02c8f5a9 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abc19225-7dde-49e7-b268-2f2e0e6e1aab phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:520047d7-f6e4-4f29-bd26-7944d83dfc3a phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:130010a5-7eb1-41c4-b3ac-81f7cd783269 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7b849fc-5871-42ac-bdeb-31cdf9876d28 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6fda6e3-84e8-45eb-a1d3-f103d63d59c1 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2877696-ae6e-4c76-848c-ae45f151c68b phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ee0ebef-c0ec-41c7-aabd-d5b21c9ba5df phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04ed0354-0245-431c-b53d-48483bc0162b phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7fd54407-b2c9-4024-9a92-7b1275b6b62f phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7cb0ec3e-bb2e-4109-a04a-23f8bb793629 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a64e7a8-a223-49c8-80f3-c2b711dfc293 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fd1e9af7-efef-4380-9ab7-9b2937cc384e phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e72cec90-18d6-4e6a-8244-4900fdcc6a54 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0010844 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4ed500e-959b-4d28-ba02-e00b6cf93ff0 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3101def-e9b4-4433-ab5b-3068c13b9d6c phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc83c3e6-b21b-4f65-838d-e1b295f08587 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:137fbfd6-4713-4ece-bb79-52b9d483476f phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8eb7efd-0afa-4d65-b838-feedd4a06f4b phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89103278-77c0-4de6-bd7c-5c50ec10b4ab phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:980ae637-920f-4d39-a3cb-9cab9d242bd3 phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7d60862f-bcc6-4ae2-a548-53d9294509bc phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19c304aa-83af-417f-afda-a60fdcfde463 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60388a6c-be27-4771-b350-bf0e8ff98992 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6355e9c8-4db1-4b30-9b18-cea84b344e0e phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4f9a856-bda8-4f2e-b2f8-e1556eecff57 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:847e085f-2987-41ed-9a75-db51dbc4f410 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5448ead-3cef-4862-a594-8791dd2a0422 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0006895 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:973dbeb0-40b4-4b13-866f-92f60996ad4e phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c61da3b4-1dfb-4be5-959c-41ea8ceb6538 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a5b2fa6-31cd-43e4-b119-2c1a20612b4a phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0012420 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78471e2a-f95f-41a6-a578-106a169a789b phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00ddbe8d-78f1-4886-96fe-46b27a16dcdf phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9b801c6c-b4eb-4d4a-8dff-db78fa71b96f phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5d8571fa-ce87-4730-b287-204184db91dc phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5087b33-4ead-4a37-af8c-dcc9c63e4ee4 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:78fedb44-d60f-4c48-a7df-6ea49951ae0c phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc3846f8-5ae8-483a-909f-20bfbec8a585 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0100738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f4ef644-4cd9-46b6-9a96-83c75d56097d phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0030043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5e7a4f8-3b72-4ef5-a26d-e545c1327b0a phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22080017-1462-411f-8b88-9f7848ea5153 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6015bb6c-92cb-4234-866d-6ddb94709dba phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0001741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:74d590c1-4c16-42ea-a82b-f9e5ffae415c phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a7e607a-08e5-4fcc-b4fb-67a489c6931f phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:452aaef8-7040-4b76-a336-bc8e96acbe5f phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2aea17a0-e4c4-4f67-995b-536f048daf79 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9044acac-35eb-4aee-899e-f24ad039c329 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80f6b88d-04db-452e-9be5-726f63016c9d phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52b9064c-cd10-4722-ba95-d862d3770cf5 phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0cead189-c125-4878-9fcc-37586baf076c phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:266e544c-a0cd-46e0-ae59-49a584c92162 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0032755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b94602a8-1d67-4be2-a97d-9c8d3d6147d9 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4215458c-a741-44b5-8c17-cd917c30cad7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89f7da05-9131-45c7-8317-fd73090aefaf phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0675f6db-caee-461c-b43d-9c0a6cb818f5 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0002378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11019b7a-40a7-4516-b781-acc0d65c1877 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:766863ad-56a4-4a86-bdcd-9a382da130f3 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0012393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3aea25a8-7a41-4e43-8fa4-9aaf781861c5 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a06824d-59e0-4bbe-91f0-35aadd4ba8f6 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0025097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:228fe63e-7075-401c-b70d-10efcb0cb9e8 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ba1f6b2b-2bbf-4eb2-8d85-d7ddaa9f3d04 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:de843316-2343-4214-988d-1a111c0ab753 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fadab186-8f41-4efe-8c78-d2b9b630e36f phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f4380af-cb8b-46d9-a093-71734452ebd3 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5214b7a-25e9-4ee2-ab1c-5d17ac1ce1ed phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38340143-55fe-4ac4-9f51-538525d70de6 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82e27a11-a418-462a-902e-e1f75b65fac1 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:318776a0-49a1-4b49-8a28-d4b69fa640bf phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0000283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e05e224b-9d10-4e61-a8d5-79626dbab987 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a1481e5-e648-4391-b241-a21e7e859590 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa3f3214-cd14-451f-96e5-121c873453a3 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51b4bad1-01a8-40f6-85c8-148ec2ca45db phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f81d71d-a5dd-4687-bac6-3248e33d1937 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a85c4d3f-dd89-4a06-bb42-01d49c676b65 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64d908c6-d993-4ea7-b9e6-cf47f11d8d18 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:69b9d1d1-b3f3-49e6-a09e-e684affb4b60 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:46fd04c8-ed27-4ec8-a834-395d02aadaf3 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5045131f-f4c8-4a75-96f2-8070a92c835b phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02f978b2-c9ea-4cbc-9283-82064e9a0fa5 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c2afbd9e-e8bd-4520-8a7d-b35675111140 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70d138ac-7c54-4d75-9e85-d833bfd71291 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b52b0d51-c4da-4d43-bec6-5a89ce589520 phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:25035634-9ab4-49db-ad1e-9dc0022983d4 phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:488b9928-2755-44d1-b3a0-1875b7bda499 phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ce8acb4-a12a-42eb-9d7c-5cb3c85fdd3b phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:69071305-afaa-4655-aa05-66bd18e48516 phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cf9f3978-c7aa-4ab6-99cd-f148106e955e phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0149a5eb-f67e-482b-bf84-1b22549a9833 phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d517d00c-1402-4db8-a642-90c16d7d02af phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb6b6cb6-ed91-4e54-98b3-918dbee9a386 phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddcb1bd6-c7e3-493a-950b-5d036a1eea1e phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9c324243-1ea3-48f0-8d04-9004eec1a8a4 phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:29693034-ab68-4917-81d0-cb4fe04e42c1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a826456-009c-49c9-9ea9-0a776445fc5c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4865183-1f78-46a6-b770-eca1fde35722 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e09f8ce-6b61-4c24-99ff-544e79d61ab2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09cb74b7-0932-4da8-aba6-208239ce83fa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:719349c5-ed28-43c1-bb14-86cf78255648 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b7a6b20b-d50d-4fa6-87ad-e8299c6456ac phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0010720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4a33b0f-dc14-4365-a7e5-1203bd3170e3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e60c0b7a-20fd-487c-b512-7effd94399c2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:62f19a56-61b1-4ffd-951b-e524e1c446bb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc003a4c-377b-43e4-a4a2-232eb9cd5058 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:16921263-f7d8-4a17-a656-3edcbcdd5893 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5f6dff69-2f51-4fca-b69c-f043dac3f57e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:465945cd-03b8-4d2a-8116-006a0fd185d5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aca32ee3-a793-4fd5-9685-e85c88f95c3c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5bbcbdb-de19-4be3-8299-c389090079ba phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67417f80-bf93-4ac7-9536-13e533dd6f1f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0008751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3667671-4239-4aae-b4c4-2858c7caad86 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9970f750-c22c-4e0c-90e4-bb8479b43fc5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0b3b3a1-5388-47d7-ad92-36c7227a998f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31cb6030-2869-43a2-bbab-ef75d4c72324 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b403df65-b008-4436-81bf-610ff23fd991 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f494553a-56f2-4ece-910a-603caf9b077c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e7968a45-b84e-48e1-b2ef-f25ae1ae2f27 phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:baef94df-decd-4a1b-9266-1709d1214063 phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31d1c76f-5361-4f9a-be81-6eec9e8917d7 phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e4510b8-6059-414e-affd-a8fc84e38a25 phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1991bb81-10ed-44ab-9dbf-953cfc365248 phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5c02bdd-cf20-4c66-9f15-207a3d4235fd phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3644b896-adf6-44bb-a3c5-38fa0ea5395b phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b5bd919c-72e0-4430-8465-1242c422d20f phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e258f2c-0fdb-49e2-a212-831d83d3c013 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77055ce2-c677-4682-ad40-639ef03b506f phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2812f4da-fdbe-4a6e-8e9b-6c67d46606f6 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef935021-0159-46a2-8e86-e93f605076c1 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cfaa7a70-96e8-4f9b-8364-1be7e9a56090 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a39c110e-5b2d-4448-8e18-634d5f5b3c17 phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:721163c6-7a65-4cde-a83c-65433db98d6a phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cdd3a8ba-f888-43d5-989a-fea85e89c84e phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea40071a-5355-41e1-a156-523a257ea7cd phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29f214ea-6959-4906-b1c2-31d89fadd90a phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5d9f2df-1012-46f3-b123-4dfd4824edcb phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:487debc4-a4ce-4647-8dda-38674107d74d phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38c3ef3d-1c2f-4133-ac90-1337be08f7d9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ccb2577a-b97e-447a-9857-237e34c333c7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2df1025f-a07b-4ad9-8f3c-0da7b21af552 phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1a8ebc5b-fa4e-46cc-869c-6fe7f49fc65b phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8435e7c4-2023-4c93-833c-e3b1553e271e phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f19ce19-68eb-495e-ac2e-bc94ef31b423 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0011170 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28bd976e-1443-4743-b0d9-5aa499aa8677 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:526d4601-9649-4041-aa17-a7f678123f7e phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22d04057-b320-430b-ae22-800f2fed0716 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b294af7-4f92-43a8-880b-71551df9f4a5 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de2e4388-8db9-47fa-ae9c-f2689f620049 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0003739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41e420c5-8b65-47fb-9c12-9a15bfbfaa0c phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:afbfc6ac-2825-44a7-82f9-e7774bd448c0 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d279e451-eb61-4370-be7f-d1449147785a phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86fb8e8a-2520-4402-919a-8e34b5e507c1 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9ef4227-5e53-44af-aecc-a2b7c4ea13e5 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd4098a7-66c4-4d46-b574-886ded4916ee phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c4170ba0-8fa5-4918-a78e-204de3b1dd0a phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f0e10dfc-f645-46b5-bb16-582143ff7443 phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:199cac57-eb65-4ce7-be5d-303c00970f6c phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:450a905b-cd77-45e3-8042-38db04992844 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34565f35-96a8-43e1-889d-4a845efaf3a6 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fccd522d-8246-4582-82c1-c21d28d3462e phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8e73238-0bc9-40df-8378-96c2da2d2993 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58d056bd-78ad-4884-8d35-3eb2a2126515 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52dfcefe-974d-4b26-8b28-638a8b7da18d phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83288e65-b402-4368-8ff2-7b24f233422e phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f08b52f-f37b-4973-bc51-d63f2a834b9c phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002131 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4017900c-8d8e-46b7-9a7c-40e0e511a42e phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64728f8b-daed-4152-b540-1101efc9ce19 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b92c1c5-37e0-42e4-853e-916b4087699a phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4072a3a2-94c6-4a85-9ded-950e3e95b588 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:881a8aa6-e520-4f60-a449-3c449f60a3b7 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ed4b3e6-5f5e-4ded-9a44-f66c14d9bd9e phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:978389c1-0cc2-40f6-a6b4-6cba61a100c8 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b60474ff-705d-4463-9f47-b8eca292eea7 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0003542 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:235dc6b7-5996-4f1b-93db-8197020b5e56 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a43c342-a4bf-4044-ac30-18182536fabc phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0010747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02c9f309-7507-4837-8270-b72c8a22c24f phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0471e97f-a8d6-4dfd-b435-fdd9718b9f32 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:26f69dff-9857-4a48-b90e-e87f0f89e451 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f88aed7c-df5f-4c21-8d47-97fa4a887041 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_54 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:666f69df-9d6e-4b18-aea8-42e6362178c3 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_54 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed568cfd-b6b9-4084-8ace-58414cd1ea49 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_54 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1053b956-c14c-4475-9b24-654f5faf30f5 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_54 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4bf1f161-3f90-4871-b18d-7c4605b4a649 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23553 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a6c63057-e8f3-4917-913f-1472e0838f03 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23553 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb124522-3a23-41b1-b654-e19e07db263d phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23553 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:522f61b9-9c5d-46c2-bd5d-38ee2f5bba58 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23553 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ba6b0b9b-ada8-415b-8765-0f75c1dc5706 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf60797f-2ac4-4419-b126-082f54e4b8b1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3b14f581-d0f8-405b-a585-a95885fc8c4f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0000657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0afb882a-cd6f-4cf1-a0d7-dbbfddeca39f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b91bf228-3b3b-44eb-9fe8-34ca498d58e2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04056a8c-8f09-4227-ae66-d07e68ae1781 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7039a08b-9807-402e-aa1e-3443c13180f6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a4e74db-9c64-4b9b-a2ea-26475535ec95 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42f1de9f-e064-4a81-b7cb-da4007106d22 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b705f4e-88c0-45c9-8eee-c2a1e4c8b52a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5b1d8a38-c195-43c0-841c-365c24aa68eb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2c4d0b41-f32f-40b1-b182-22286f7875d7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a158ece9-c18d-40e2-aab2-a093d4fa201f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:adef87a2-f086-4f3b-be41-fa02011deb77 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a256975c-de20-45d0-9ca9-50c4391ea5bb phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ca6d1c0-dcb2-4cf7-b291-25e033a0174d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fdfad723-2a91-49e7-88c3-435c7d9d9137 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b5874b97-bfb1-4562-9464-2cc13884dadc phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0030147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68055a1f-aa65-4e97-b090-96fa01cc63d4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79d7c8ce-868d-4f43-b5a9-16218b10643e phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60b20db0-9708-4f9c-ad9f-b797175321ea phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fc89328-e513-4807-87d7-b4eae05c18af phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb5e3fb2-095c-4b05-8f6f-370fede1087c phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9950c4c6-096d-4f11-a28d-d3715465e466 phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b7c652bc-cd69-4d8c-99d5-ca72082fe1e2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a99d8447-5101-4a68-a5b6-0e157de76292 phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d68d2cd5-552a-403a-90a4-63a082b547a9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:583d3344-c8f0-47cd-83b7-f8d91c0f39f1 phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e8dd6f84-eb18-442b-9b84-c396f83479ba phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1bc107c2-754f-43ba-911c-be9b133688ba phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04fd07c5-cf68-4589-bf96-31a79f438931 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9162b6a4-12a4-4a53-90c5-8e91950ee7d5 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0011205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cff70141-80db-48eb-a204-7a71ccc89d58 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42fdc488-4e9e-48c3-a933-bd650168ea93 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c481d7eb-2862-4f57-8e90-4b00931cb46b phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8107b06b-e4ec-43d3-a1b5-600b10556d2f phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2102f35-706d-4fd9-ba64-e57fafc26572 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d51963e2-0de7-4758-8f08-6c6b10b69eb9 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7dd5cd31-053f-455f-a8cc-89213b456b94 phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a3e269d0-f802-419e-8062-a114caec02d2 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c2121a9-5641-4737-a67b-51382777a363 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2662405-7a40-4872-936e-0361ad882dc5 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:086c4a6d-881c-4ed2-9faf-85e5a58b7baa phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5fbc67ac-c787-4d58-a194-276ecf5d8f74 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b46305e2-963a-41da-bb29-7b6e96ec5ace phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7bf69896-14fa-4c34-9c11-98010bbe9a75 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:62ccfef6-3c65-4eda-bcda-30f9d709336c phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64868a85-9e37-4db1-ab04-11ddbc94b86e phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7552440b-35a5-4fdb-bdd1-36a4f784bacd phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:364cf98c-37a5-4877-9ab2-6ad8226e1180 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d93ed8bd-b462-4b93-92c2-b21aefe40816 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:82808b8b-24d0-41b6-863d-e51d9c5f2b3e phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0d2ae86-7f6d-4799-8887-8501ffa9bec8 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4d45d83-9edd-4f8c-b36d-7ec051e123b2 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72390d01-e83a-4893-ac87-9cb5b874d6da phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:37974f6b-5766-4e21-bee2-e4fb84386a9a phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9d3dd850-811f-4e84-bfd5-245b74bbb8b3 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3fe26da-ed7f-42b5-b112-92b9dd8b4b2d phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa4cf67a-34af-4e05-91f5-655190b16ae9 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e963d20a-28b3-4ab2-85a6-1389532b4759 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cec57831-3055-425b-8b88-01b083ca4208 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5bc94389-b04e-4d1f-9b7b-fdaf34504149 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50e0bb02-cb04-4520-a404-8b4c37955e44 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d1399d2-cd85-48b8-bc98-27902e4a215c phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5829f826-cdde-4fc8-987e-7d46ae32f59b phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af2d2671-6651-4c83-9377-b540a2896899 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1910806-8cdd-4446-acd8-04240932b072 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bb5d7b52-cf2b-4d3f-b766-fbd1975f1e6d phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0150e840-c180-4355-8af5-c2db28f1dcae phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_235 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f36b001-e3c2-40de-8bf4-29a887ec9fd1 phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_235 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c38169c4-1394-411e-9e79-2b8f0d185f4d phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_235 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3dfbfc13-c538-4ba3-a3e0-83966fbf6e75 phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_235 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:180ee921-1d3f-43e3-aa06-5c7a35d4d1de phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_235 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0f59b6d8-e3ac-4118-9bbc-5fbadf811af5 phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_55 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a2c61b98-38b1-4b19-ae4a-b6195119470d phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_55 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:76a0e5f0-db18-43ad-bdf8-2ff2b3ddccd0 phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_55 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:42416a25-aaf4-4226-bb08-a9cf2f35cde2 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89c031c0-2af9-48d9-862c-797fc1a5d87f phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2390f129-c6c9-4966-9424-16539a7a76bb phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0eef686-2aae-48a4-b7da-bfca83a4c493 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a96e644a-f5bf-4529-85aa-9a6dc2762f79 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4631c2d-8e5a-4d13-b026-33e72075a402 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:11f49104-2c63-42ea-b6b1-43f1ae92319b phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f4423af9-f6ae-4b6f-8d73-e833f56fe0b0 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f115f4e-7301-46ad-89f1-33386fbf63ac phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52533cde-bac5-40b1-8f75-ad0e2656be4e phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48d290b9-b70c-45d4-8925-d0b119effd93 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f4f955f-a749-46bd-b0bc-aecd4a05fbf3 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0dd2cd39-16a6-4f7f-bef3-aebeffd34929 phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56e3dc8d-7ff5-4277-9e3c-4a3f4aad959d phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fd854827-60c7-41f3-8453-5a2e04ee7e0b phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e206c312-795f-4b90-ac87-14c14770a38e phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c06e09f4-bc62-4838-bea9-6408fff70e60 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e02dc147-18bf-4499-b92e-0b7ae2b2d3fd phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0e9cb78-3e63-4cae-9e9c-7d9721a479a3 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efe3498a-63aa-40e2-833b-ea0107e54d5c phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5f24b71-9c3a-4454-9952-1f1ae8bae260 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a6869775-8866-44c5-a374-c7f6d1ef6fc3 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7e9a720-0ece-4f37-95fa-239e2836a182 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f86e632-4c6a-40cc-8222-1b023061f1f7 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08f476b1-56d2-4910-85b1-9c4ad430871f phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c955f663-726b-4d5e-8a0a-aa44292a96c1 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f460dedd-4ae7-4fff-941c-8120f4f337ab phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9fb63728-bae0-4a67-8a92-70b868f37e19 phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e0a4ed96-6b9e-4a3d-8698-9e47b4225a4b phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9d32c438-d013-4bf1-b3e5-cd112b373ae1 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2044f1fb-f593-4474-a60a-eb1b87150378 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00f21653-7e51-4db6-8675-d52671609aca phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26586846-7d85-4640-9561-4e61920260a8 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b74c6ff-139f-4ca1-aa89-9508668cf781 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b78862f8-bc8a-423c-8d94-27e982f1b854 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:461ced40-1cd2-4de2-a0ed-3f0f79900f98 phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c1a35866-ac9e-4a87-bd14-a09b7b61e8ff phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_63 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9239fd4-b6b1-4ec0-ad78-7174c853ff34 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_63 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3975bb46-8ec5-4066-87b9-3591275a9471 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_63 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c37e08ea-4742-4421-8f22-d13d02d53b19 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_63 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b77cf9ae-da0a-4ddb-a53d-729693eadf2f phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d825686f-b1bd-4dd7-92de-3e0f1689033b phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6b84079-1d0a-483f-a9c0-f9fc575860b8 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f751ef04-2f10-4946-9231-91907cedda2d phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7c82ff8-8669-4a98-a3cd-1cfa9263a126 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c99ee74-6545-42b9-ad1c-286dc6beca5c phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22702457-d524-47dd-b9b9-38967b530f43 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ff60f95-b8b0-49f4-9d0a-4d759d87a820 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56aa3502-d88a-4b5b-9c1e-61b572577488 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7bf8087c-b5a1-4042-8221-2f6a821f989a phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa9de702-926a-485d-a095-469be5425d65 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab10af5c-d83b-48ad-9d50-0e88a5d74697 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:200b2951-3d6b-48e4-a83e-99a35155c9ef phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4133f057-6399-47be-8d06-0bf3516d60af phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d5fbb762-5381-4213-a181-5c29e4190cca phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22595 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e49ac3e9-111e-475d-9f68-8a244c29a4ba phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22595 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20c77e04-3e56-4e16-af62-3099451e3ff3 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22595 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:131c816b-667b-4379-a7e2-e42f2877f025 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22595 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a1458f08-ed71-44f2-8557-e3e6e1c27c0b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0721fb5b-ae11-4836-aa13-8c6176e7f5fc phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aea08ce8-2f88-4dfc-b4cd-1247144b9869 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:has_phenotype HP:0011196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae38fe99-6cb7-4946-9472-6603f9d40a7d phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:856e3b97-ca4e-4d23-83b4-6c57b4f90341 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5d847471-2bb7-4f01-b024-35e08909df7c phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a9c6311b-e6b9-4e9b-ada3-59b7e023dd77 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6d598ff-9a86-4608-a549-122c15369ad4 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9bf04ecb-441d-4259-b4b0-15a1c59a9fae phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50df99f6-e783-4501-9998-d15a1b26ef76 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0767b1e-34be-43c7-8328-ea9bd63706e6 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:739af8d5-c96f-42fb-9a10-00a2b206f009 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:96f5b5e4-1ecc-43a9-a902-152862144c77 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85a196c6-5a7a-4ef1-82e3-f84fcd6098d3 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55d746be-fad6-459d-a924-df4815afed90 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c6addb6-780e-4c26-8600-97c32b4ff2a6 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4ab5464f-4002-45dd-8d72-9bf722d8bf04 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:81e0d6cf-c373-4983-82ea-1268498da88c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7db5cc70-9b22-47ab-817f-09d0ec80cd83 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6837182-345e-4531-8337-a57ea1e0f041 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8508a6e5-ef17-4a0e-ba3c-4e1d1dbead47 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b7457e77-604a-48c6-a127-9eddff511c3c phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d53db7c3-2f80-4c32-a8f1-03fcdca86758 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d8688f1-1579-44a5-9763-6cfd2464233b phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4f580365-4d1c-4ddf-aad3-899e0b936dfb phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e378cfcb-bed3-4c74-bb78-941ea1271397 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a6c88a8-cb7c-4bad-98e0-d378dbe36a02 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0005957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95ed4a48-b991-47cb-a6db-f5d6020cf189 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73bdb1a2-9dc1-4d9f-98e0-d06457dc7853 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0007328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eab0eb67-a925-4c6b-8a63-5c08df7316f7 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:535bbcdd-73f6-4372-aab1-d173dd917178 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1db117c6-3e65-4e0f-a9a7-ac3d9524562b phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d5dfad7-c119-440a-ad05-729c479f51fd phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01cc6f30-35ab-472f-aee4-4e4476054f97 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c795dc4-53b2-4eaf-8560-84d2d1150caf phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d1d6960-0497-49d0-85e6-7f6c5bd28169 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d22c4a85-945a-4d65-8b69-cb79c508cfe5 phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:775594a2-49db-4d37-9a61-ebc796c1d302 phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3e79ec8-f5e4-41ca-8837-e7af4af3c5e4 phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cca1ad50-2568-4684-98cb-1c42f6467840 phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf87dbe6-ffb5-4702-aeea-c152ca547515 phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a490136d-3c40-43ac-97a5-4505ea9b040a phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_phenotype HP:0002060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35190816 uuid:b67bec4e-b4bb-4ddf-9d5c-b6a33fe00e97 phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:305bd5b8-ef76-420f-b15f-7a33d0ab053d phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:928076d3-ac0f-4c23-a076-42e0bf428681 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6981b6d6-65f4-42bf-9ce8-51c8e8bec189 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02ee1b12-b1bc-47d7-a5d0-f54143994de4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0007332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af386def-55fb-4b08-b5a5-0e352141e71e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19182139-ecd4-423f-a21c-ead6bbd4f15c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d23d20e-8125-4737-af64-91351d6922e0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:652c2448-01c5-4cd7-b3b9-df35f798e5ab phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:413b0585-d339-4e62-9652-f5985dfc51e3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19929242-4baf-4b29-8260-fd23a636fd36 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ed18f97-8155-4ed3-9612-f03d5a58cb73 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:74dfdff6-c60d-4b4c-897e-4f605829a37c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:54f459b8-1532-43e5-aab1-085c63c985aa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb9a1ab3-dc8a-4664-ba38-61d0bf8f05ca phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:672eedf7-643e-4d75-8f9c-bc0bc577b1e3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2042eeba-8d12-472e-a4de-9477f8422ab5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0006794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:965fb253-c92d-4f56-ab13-db6a830344e7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec5fd973-754b-48e4-bba0-1c459c8dae25 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:847f3dab-3da0-4906-b00a-783c5190fa51 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1892f670-3fc6-417a-a756-e693fd67d5ae phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5cb3ecf5-29f6-4ebf-b097-94e12a902e33 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b24cdce-7177-42ce-b3d9-9e51ad395537 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_phenotype HP:0010847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e13d2b79-76a7-4529-a173-ef42cff12cb8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2d9024cb-6c80-4005-86a5-b8221f1332be phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e3b6c855-bc92-4dae-bb04-b24937499ad6 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04b63566-b837-4528-b3ce-53d10d386286 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a046e6df-b3c7-47f0-aa5f-b6fed364214d phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:931612de-c133-4a42-bf41-247c792dc9d8 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:147ccc3b-079a-428f-913d-8a542ba10746 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0100512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9bf7f7bb-c4be-4d5c-aa6d-b27f1892a40c phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c6eaaaa-bcb7-4ab6-b100-4130dc5468a1 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:225f03af-13ce-42f8-acd0-bee87d97ac19 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30a9d598-c49e-46c0-8dfa-a90e4d9dc0d1 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb7bde9a-34fc-4d38-b1c3-4320e079efd2 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c039c4c8-aa7b-4776-968f-dd888e45defd phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a94dc75-dc72-4cda-a78d-43c90d6787d0 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:00aec854-0c7d-4524-a04a-babc087c8269 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3e251297-f1ac-4e2e-9cde-0d5f6339a4da phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ebdca75d-ab92-4476-8a00-e62dc19cb81f phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91849bb3-dc2b-42cc-a13e-3b0e16596a94 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18f71eda-86a6-41f5-8344-cf1541bee691 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92ad5f8c-fbc3-47fd-8a16-ca2774c2fc83 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:408dd98c-6b12-4834-a024-01f0def495e4 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5f7f5c26-9aed-4178-8b26-bf95a19075ab phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1941a330-0605-4d7d-9587-7e4b94a4ec91 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33dabfa6-6945-4122-af9b-3817d7d5fed2 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d980704-4454-487c-b023-4ae305e48a28 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:999b47ed-4233-440a-bca2-09a2ed058749 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb46a104-3ddb-4f9d-849e-c29cdf8800ee phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b271b68-4189-4559-81f3-8fd8275b7c3c phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dbf24d64-7290-4650-9d30-1eefef2acc5d phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6e2db5e7-6deb-4cf1-80b9-01461381f610 phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7376db26-2c69-4cd4-8441-7c4e1f37f5ec phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18707904-c298-4545-aa98-325306572b39 phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3332042e-cc0a-4e55-8fdb-6274635e2c8b phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5a6d3338-068e-4bbf-b0c4-581eaed9ad47 phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89759a6f-6b09-45ef-9445-884891f8bd83 phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f4954f0-2761-4917-a6e9-284709833c62 phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67f107ed-78b9-4c4a-ba4a-b6713aacc775 phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4d33d9a2-5af2-4bc9-a0db-f00fe952967f phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0150486a-ed6d-4be7-aeb4-99179246a635 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a06324a5-f885-4d8b-b78a-037790f800dd phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22ac16a4-5ba7-4197-b259-ed15ead73b8f phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_phenotype HP:0012434 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae9a8c7a-08b8-479b-9eb7-b7c883c528f0 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_phenotype HP:0012000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4079f67e-f83e-4cbf-b2ee-c68c51a15707 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a8cacba-9178-4216-a63e-37100df3df1d phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:88007aee-1ae6-40ac-a28a-cde8aec54ae2 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a6b1c97c-5f15-4a12-aff2-48c7e24e7a05 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e6ba1730-962c-4050-bcfd-7db658bac1a3 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02245c10-1691-4106-8214-3a4231b27d04 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aed24e4f-6366-4c49-8d23-9943a0d7d16c phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:910308ee-ca6f-4af0-8f50-eed59c9b47c6 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0007281 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01e54226-c0c3-4d37-88a0-48a419f154a9 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a6a3d2d3-2eff-48d8-8698-9aa80d186c2f phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c6af7cc-aa7f-4d5e-b369-d59a51301729 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b65d8896-e487-4c6e-b364-0e61f6c0f3f5 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2425f70-ce6e-4b9d-8d8e-c1d95d900c32 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d363e13-4e01-496f-8663-afd458e08a7a phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:faeb4377-1145-491e-98ca-4c521ffb7bab phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:547f86a4-5cbc-43f3-b8e5-e96dcb1f1a68 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e889ec12-f83f-4fef-9cac-ee2a308a0c49 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6bb27e8c-b48b-4956-a1d1-a376c1af85a4 phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8019eb7b-5f57-4ea2-b79e-ac1fb3882132 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61e185cd-b8a6-4904-aff3-f33bce8c4961 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b80e3115-bec7-4e0d-bb23-8ef5d352c3b5 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f313c7a2-08a4-4cee-91c9-438c8e781e6f phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ab17850-1e92-4e51-9996-d434711ae9f3 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3d13681d-3849-4cc7-aff4-02c16c13a934 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0031535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd8fd38c-1577-4d2e-81cd-6403594948c7 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51180849-119c-4f52-9f2d-818b3bb468df phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d806607f-cd12-4208-9f58-f07678c5710f phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7c9c0d0-8df0-4b3c-8809-640b54bfc4fa phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f7b0d35-e966-4ceb-836c-9a83354c7100 phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c4132bee-3186-4df8-a1d4-53afe058bf2d phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:760c326e-8b0b-4091-b48b-5140df185fcb phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22856 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:000db029-be9b-4c99-9bef-c2ab68509d02 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22856 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a78d14b-e3da-4d7b-b86d-59a7cf4bf036 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22856 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fea0df80-ab38-40d8-8a75-43d76729d15e phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22856 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:51f3b31a-0986-4798-b15f-59abb9863c61 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04201636-e763-4e96-8cce-97f478014e6e phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:749a4c1e-80c4-4177-8006-9098fdd608e5 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bd35bdaa-8069-4ddc-91c0-d3f9883f7c93 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43e2cb58-502b-4a1e-8caf-d330ff954a45 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f05e116b-7da2-47e7-a1ef-b0990690111a phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8fe27f56-ad47-4dd9-b3c0-f4e3ae43e565 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0007034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c64f1fa8-faf6-4b4e-b923-684ebefd5c0d phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:149a4040-7e4a-445d-a49d-2aca61b0123e phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9272fefa-0145-4973-9ce9-1e45fdbe7377 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c74c6cea-1aa5-471b-8207-d3e2b10c55f6 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0001300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5671ffd-1f47-490d-ab03-47261fcafdf8 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b79297db-63c3-401c-9a78-bb8e2272fc85 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93720428-4059-48d9-adaf-da892e6d1292 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdbb3480-f4f2-419b-9f5b-ce60d5396b76 phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31c6a5df-da61-4031-827c-8564b6f4242e phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48b63578-6e26-4c2b-b2ee-51ce735a107f phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f743d745-8801-499e-87c7-6752fbb9de7e phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:45e11cdf-6b34-40de-be19-5f1b895adf60 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abd85f8d-e8b6-497f-9ac6-488ee7369890 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:225c4da4-51b0-49c1-8574-7fabef490e50 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45adc769-a116-447e-a662-526d51ae62b4 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a864f9c7-b749-4050-a680-df73c8bda3ac phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0008972 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a1e9a79-391c-4975-ab57-d53ba3bf96d3 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0100321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2e8510e-e9c7-46a4-b80c-7ad800239c7c phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e384d88e-a70b-4342-85e2-59c71063649c phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d02dd676-6a7b-4a30-add4-4aa63e13c7c6 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efc5a861-5d52-4f77-b9e3-68f7c7af9e21 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3fd9c19b-9565-47d0-87fc-0f11d323ac0f phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a217a16-e179-40bc-822b-82b7351aba0c phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:552c3e87-e945-4c88-b04a-5e6dc768a9b1 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:595b3814-deab-4e3c-ae87-649adb43e2bf phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:10b0eabc-0088-49be-96d4-8cfe55049682 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9c120f1-bb1b-4bfe-8b6d-70ec207f415c phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27ba2aad-74d2-43d7-ba94-8b9e37191e0c phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4d0781b8-be34-44e4-8e13-e4baf8e5d8e4 phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:58d4bfe3-f950-49f5-9663-82ed6add2aef phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac5cd3a1-cbef-4670-afc9-7c6de68e6f2f phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0005957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6636139b-be1f-4349-a9c6-9ef7847eaa76 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf9ff1b3-f326-4b9f-9d3f-9be24b26e86f phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0007328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:770d24fe-31c1-4267-b85b-75c4282238e9 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37b25bf2-1ee8-459d-b2fe-212034eed418 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2f017fc4-6727-48d7-8ac1-28da8d168d99 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c88aac1-0292-4e7d-82c8-68c98266fe63 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a41d79fa-fa42-427a-a45c-cd874bcbce0f phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4e50ffe0-3719-4bcb-8735-c3b76dcc70b6 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19c9a3d0-46e8-45a2-a9d7-77ba8273fb25 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5290673-7c2d-4793-905d-f135e5314c73 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43421e12-e64b-4403-9c0c-2943bc235a40 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9da200b-43bd-4491-b7da-6e409b021c3f phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32994e52-668e-4378-87ca-25d17752ee83 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:63ba2df7-7506-42cc-bb35-a64d51f3c935 phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:65ee08d0-fe54-4e5a-a1b0-08e4d7282bbe phenopacket.store:STXBP1.PMID_35190816_STX_G3_P36 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f47d4e9-d73e-428a-8674-b1cb60abeb8a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb0aae6e-58e1-461a-a623-4c4ef65d845e phenopacket.store:STXBP1.PMID_35190816_STX_G3_P36 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bc4be34b-7098-4e3d-bd3b-bed8e6200189 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P36 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4ae06b42-67b5-4881-beea-e14358b3a6cc phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_091 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:16fb2963-8b28-4332-bee7-f2734acea22c phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_091 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39f0f972-fd25-4022-a97e-4926e471583f phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_091 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:117fb09d-b79a-4a32-b342-43fe6fcbfe56 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_091 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b2778b79-e733-4103-8030-ae27705f0f22 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_091 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9ef0f453-f2c2-46eb-ac32-cec65fe500e7 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a00b18cc-d276-4228-a193-e3cb19b213c7 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4ff0b1f-b6b8-4d87-8dc7-0798bce11135 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fce643ba-39c6-4520-9a87-66bf93f060ee phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ee47e54-0161-4f7d-8359-4d1dd32bfb80 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:837e8fd3-d74c-4ff7-a87b-7adc945a93d9 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf7ac0d3-5b39-4126-b4ba-64306695b903 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68681bb1-dd90-463a-a84a-35948975d655 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58f9102b-c7d6-41dd-98b8-c0246f9a9946 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c111f541-4449-40b0-81a7-e0ee7416651f phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c595ad45-233d-4978-a16d-9fb5dec0c265 phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:76717bd4-17af-49d0-b733-d45c076f66ee phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7b80d83-a272-43a0-81f3-ca0bd88f81b0 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fe93f52e-0ef2-4b4a-a794-913f8a999331 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0000748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:232e29b4-770b-4dd3-8a32-467f48b84e43 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b8389ac-57ad-47ec-8304-f92e0353d5f5 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:588f77e4-8368-4aab-ad08-f0a8e78f07be phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a92779e-2413-432d-bdd5-9032b8e1895d phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:adde3173-217b-4299-affa-36dd2b83609e phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:552dad04-5539-4790-8973-59bdf04b1f38 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c18e8436-580f-4311-9c19-fb909e435ba8 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58b090ad-aebb-4fdd-865a-27e754e10fe5 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:382ab948-04db-4d93-9940-756edc44e9f6 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59b12db0-69f6-4a19-96e6-9bca1d1bb0c4 phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4710435f-b47a-4bb0-a415-3237f982247c phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7ed27303-865c-4ff1-9d7d-350b6d75b606 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0031951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:942d3223-758f-45cd-a7c6-91f64c162c99 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b079d538-1449-400e-ab82-022057cab14f phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:767b1c26-7cdf-46a2-8b74-754597ad34d3 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48723f24-e8b9-41b6-900b-9cea8a043d87 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0012443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:048f2c9c-b7f2-4936-b5e2-9b7c2cc12a93 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ef1b2ec-e84d-48fc-bf3e-b4f4de5f4e54 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a5c32ae-0471-411d-b2ff-e58ef7510ee0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89e77fbf-f3dc-4a5a-9232-df83c42567fb phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b998044b-9059-46da-88d8-2fed685c8339 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:882e8856-c59d-4c32-922c-db7bb897149a phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8624cfcf-8c2b-4334-a8dc-fe1e5e47c49b phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f64a4f6c-4fc7-4244-b095-076bbc3fc0b8 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8d7aa43-f616-4cb9-aa82-a3da1e3f7720 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:547bce88-d525-41d2-88e3-4d8e8795293b phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0011210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ad02b0b9-9955-4d0e-afba-8ba4c55ed9ec phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d98665bb-aa81-481e-8b47-c4b53bba9936 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:752df791-7e5f-47d8-9507-1a1a16763bbf phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfc4505f-1c4a-418f-8113-9dd34ab10d31 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cdc6e1b2-48a7-487b-874a-e662cd302baf phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ee1f182-e896-4bfd-af71-7c5778eaa5f8 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:265a0fb7-e5dd-4196-94c5-ff3910d77caf phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9731f3ce-e1d5-418a-9e6c-9a8375c43dca phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e616a57-db54-417f-b427-07e593245284 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:639ece75-24b7-4898-9c5e-41268c6220d7 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f3fec15c-d37a-41be-bc3b-c191192f97b1 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d895a84c-5074-46f5-9538-bf14079cbfd3 phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:dded56ff-d0d4-4338-8aa3-cfaa2f3b941a phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc07c6b7-4bf8-4007-938d-c7360e9cd34c phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c20bc6f-a6cf-42af-85d9-ebdbbb8dba27 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:54dcba45-0175-4888-8668-f33d5a60c800 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6dd65495-8ba1-4ab7-a06e-d2676bd94968 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b67eead0-6796-4ece-aa4f-68d236c6375e phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:135f28b6-9f03-45a6-87c7-e51f71db159d phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c7b6266-b36c-4c55-9fbd-784d44cd90ff phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e66f2fc3-6148-433a-966e-398494b0daef phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6e049bd0-b4fb-4686-864c-82e189a32f1f phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c41109af-1481-4765-8863-acf5994633e2 phenopacket.store:STXBP1.PMID_35190816_STX_31171384_Patient_1 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1cbf56a-ff64-4f0a-80c7-9eb99797c464 phenopacket.store:STXBP1.PMID_35190816_STX_31171384_Patient_1 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6319935e-bcd0-4464-8ef7-07ddac5da1c1 phenopacket.store:STXBP1.PMID_35190816_STX_31171384_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f0bd3dc7-da5f-4c4f-9715-7f4f6b2905bb phenopacket.store:STXBP1.PMID_35190816_STX_31171384_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:88c3d419-4fb5-465f-9882-c0c2dcf2a401 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92dd9d53-7165-4972-a008-811ae9c81cb0 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:63a02dba-74e6-4cde-86dc-c5a9d734eb6d phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf195554-1070-4ff5-aca6-6c733f464863 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6af6a3ae-eeea-4d50-b6a7-378ba75b1243 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6f5c16a2-2ffb-4f8b-9076-d53329c19888 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abe7f947-9321-44f6-9598-ea8a600702bd phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b0aa892-a9a7-47bf-9ec9-3aaa3e7e63f9 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0561393-5c9c-4bc3-bcf8-8c5c18651de9 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aab9101f-2d85-493d-8e72-28c0b81f83b7 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:980242eb-0dbf-4ef6-93bc-7b03b5ca6878 phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:87907ae0-d2ba-43d3-881f-ecae6eac7fcd phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P14 biolink:has_phenotype HP:0011147 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acb92306-f1c1-41ca-86c6-415ff3e1e337 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P14 biolink:has_phenotype HP:0011289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a61531d-55f7-493b-976e-1fad801d3aec phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P14 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a9582438-0955-44e8-9888-14a8066d50d2 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bfe8c92c-3032-4ae1-870c-c0c94328bca4 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1d50b882-0f45-4442-a422-77c231e7c908 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:40fb8e29-edd9-4e85-8863-4ea32fd47429 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a87f34c-aea0-4c8c-add6-961c57ce66a3 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:157f9dec-a7c3-4c07-a46d-05056fa97854 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4c2eeb7-576b-4c7f-8fe1-f347921ba37c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70f6ff30-3813-41eb-a98f-1e08b686aa0d phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5d48d4f-f66a-44fa-bc8d-235f394eafec phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31e1c5c9-3299-4854-831a-2fb748a9e185 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7e48459-422c-47be-8083-40380e7f60fe phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4746c534-0daf-4c7e-b21d-3da0d60324f5 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:853def93-1adf-4630-8b20-567ad20ee770 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dfa53abd-6606-47a2-9fef-bcf89a0bd21a phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13536f24-04dd-4172-9f0d-189d6103b5df phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43dad6ae-bfa1-4e0d-9876-d2693527a998 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f68e5ba-3961-4e6d-b952-f978d437782b phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cdcafeec-2ffd-4f23-b8d6-fa4d3d0bfeed phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86ab20b2-0b96-433a-afe9-6fe0b5948365 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d676e00-b5e7-4e56-8a07-8b12b466b0bf phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58f33331-5548-437e-8d29-3c10d32052fa phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4913000-0ba7-4245-a513-4588a4c8014c phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0000496 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e79b9728-59d9-45f2-8d84-c6b53a7ce297 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:740ce43e-75f5-4b4a-8c14-caa6f2b722cf phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:065851d4-2263-417b-b9e8-c55f2187425d phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c42574ad-bca1-4d19-8e52-9a3eb34b11b4 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c19398c-c01b-4b6b-87ad-3698804cbbab phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ff08f13d-35af-42bc-a353-e58b76f69866 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:00bfbd69-0cf8-4c09-853a-3d433d680efa phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dde7fa93-74ce-489d-9769-d5aef8b4cded phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a24129e6-b535-4195-9d6c-6a842e61910b phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45432466-670b-4829-9383-205ba0a40791 phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6abb753d-a0e2-402c-89a8-95f0c8e0c9d9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c840cfc7-680c-4806-a1da-d239f8df69b6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a319b8dd-1c38-4dcc-a437-4da8a887d562 phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ed12a8e-71c2-4005-8bdb-64e2a3eb67ef phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8c1d0aa7-7b31-45c1-ada4-a2aa9585d8ce phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f9779595-90a4-4b7c-89f6-dac95cf77def phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e76c0b7d-4d6f-4fcb-ad99-9da9016f0b57 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6eb158b0-9a8e-4203-9bdf-804c5227e756 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:479e28d6-571e-40a9-b817-bdad125d2324 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5579f5d-0151-4006-a041-35bd774137b7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfc84110-092b-4201-b03d-cf72833ceb3a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d796bb83-666c-41f2-9c59-caea1dbd9ec2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0d1f12c-54e7-4b31-8372-9f087a64f736 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:486e7f80-3118-4992-bbb2-c6e7af4d1c03 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24edeba4-8996-439d-aadf-af7c64bc262a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e46612ed-24fa-4193-af4e-bea4f24a0527 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:74dd39f8-8902-4fda-95d5-18b8231e7d56 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eda83321-1f0f-4aba-8cd7-95fa75facb14 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:788cdc57-0bf5-4284-a4e3-f8b970525446 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:997bd410-bf83-4700-81d0-a632520cc49f phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:252950ac-4dd4-40c6-874a-f8b5807a38b6 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ab8335f-27b1-4803-b24f-a5c6a58f4656 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aba4f944-757d-4351-983b-9e125e3b916d phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e81d490-5e18-4495-b621-292595bbe981 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b0084897-76e1-4a59-b160-1953c85d81ee phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ece482f-c8ff-4f5a-b915-84c0a7b8aea0 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2a23f7fb-3071-4e4d-9745-e90820af2ce8 phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1a4f3155-3f66-4fef-bb16-f650f70a5f03 phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1d834bd-9ebd-4489-9525-35aa522838b4 phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d2203c0-9341-42b9-bf6e-5a88779a1b42 phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c4aa96e-8dec-417d-8e0e-4abbec5ccc9f phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab1cfc59-9dc3-4d2c-96e8-71005d89bfd7 phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a46d8969-87cd-4f1f-86b8-7241b7a5f6be phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:93f0aa0e-5a05-4969-8736-6cec52478ac0 phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1c28c7d9-af67-40b8-84c7-0bfc6873989d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:26d15996-8efe-4b95-bf8b-e80e9d9f298f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0000737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2461790-06e8-4b21-8ff9-0aae8cd09299 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:568db795-5973-4f5e-be62-6195d30ff64e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b562b6a6-4b88-40f7-9705-5ef94f042a60 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea832521-13ea-4fc7-b784-f95c3b1eb37e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc44e1e4-6174-4fca-a467-58a3f4e706fc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3001032d-678a-440f-8f71-3f4b2a8ee389 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c9834a6a-0e87-42d6-aa9f-458058c99caa phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e182ed65-e44e-47fa-9e39-ac22ea5ef8f5 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6de76ea-6d47-48cb-a1ea-f941faaa1f18 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0ad10b5-6ab9-469a-b23b-399b9f152cb5 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1ee6bd2-162b-4ca8-a5bb-8cc356ca7349 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec812d56-2e2e-4ee6-95ac-20e4ec906ffe phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b1cbe6d-e814-42dd-a9ba-674fc432b0d9 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:302535b1-dc76-4227-bcbd-ab87dad6c9c0 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e549c51-25b5-44d1-9b16-b61cd667a9fc phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c243c65c-5d01-45d3-8fca-3fcef3ce9180 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f42734fb-8750-4b00-8dc2-9de2fe0a7c87 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7eb80a8-e78f-4c24-b6bc-05a46fbdba06 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:57409a12-5c0b-4fc0-a9e7-03adfea4c4fd phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b71997d-d955-42e9-8f33-48522f312783 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3bc99d5-d6d6-43bb-a3cc-e6188d4ffffb phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae15e954-6d9e-441e-ac31-5f30fd8f53c2 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51ec92d1-29f5-4bb5-ac54-07a373160107 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c617e3ac-1e07-4041-8c67-aed8b0ab0736 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d4a5c26b-f825-4435-ad63-8de315095fd3 phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:dafcdf31-a652-4bf0-a4d2-9d81fe576b04 phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a3cabba-8a33-4e2a-bcdf-4c0eb31ecaba phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b7db5cf-bc18-48da-9a0b-02cc0d73279f phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdbf0fbf-d338-4972-a9fd-22549335a1c7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b0c75a3-afbf-4373-8723-6b5af390585c phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:aaf92a04-da45-4c58-8560-1460241c1e2b phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1d5460b1-0bf4-44c8-a13b-f8e4731651f1 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:96acb027-f447-404b-a8c6-e4c872151ca7 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_phenotype HP:0012704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d373ca2-47be-4647-a7f1-b512fa9e0aaf phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2bc3bcd7-54e3-4561-8394-be63551065c2 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ee4eea0-6709-4f1c-82e1-f04675064c21 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:12a59791-c22f-4f2f-978a-7102afc6c4d9 phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cd80ae41-25e7-4fd0-a226-fa0880eb889f phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bea5555a-c5b0-4843-9b47-b76bf77e8d47 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:183f1d5e-64eb-4ee0-93c1-d53d0c0d2c34 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ecae35cc-11d4-42de-9616-a38e45004085 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44d70d35-3fcb-49fb-8f29-9a64d1dd95b0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4da04910-2307-463d-9c74-c3e2f4e59f5d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61dd2160-d3ad-4c60-bd00-a058ecb97d1e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ec36915-95f3-466d-b25b-0b939c425b45 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d58f5cff-7251-4c35-8acd-434d46cf6b7e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c02d9dfb-a31a-4d67-b79d-60d90ce663c1 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:353a87f1-ef09-49f2-a487-59912b4a2e14 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e3596fb-c3a4-41fe-8a60-697464e62d06 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:14dc6447-d704-4e5a-af3e-92670e3e9dc2 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:420b813b-5aa3-47d5-bc02-61235ec280fe phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f413fce2-f75c-4245-b6c9-ff71e3d3370a phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc043068-bb63-4c4c-99c9-3959245fef30 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:556f02e9-138c-4228-8046-2f151bf4dad5 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:57390fb9-52a6-4ebc-bc21-7ccbb4303779 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5af5ac65-f8f2-43e1-980c-1cfc0d63b642 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80482c09-6dd0-45a9-9cc5-805864b81075 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:adf6605c-3fa4-4f6f-899f-358528202f8a phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39a76914-5c05-42f0-876e-f58a79b5cd75 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ccf2ab5-e84c-4550-9df8-15bbbe42b1e7 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f80a205b-24bd-409b-9d63-5a35b43585ba phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59c89be2-cf3f-4417-8bff-5b33c805fca5 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0011201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d1fbc91-2577-46df-8568-25aed5b1e8ae phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5933192d-c81c-4759-a67e-1eba29f8cdf8 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0f6c380a-2ace-4230-b3bd-c6bb8d3afc17 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70efc347-e11d-4b8d-99d8-c3ed9d2f8ba4 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b9433bd5-d106-4833-aa70-51af7b691474 phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fa561f48-a466-44ab-bf42-0d686006866b phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:53e61f79-4868-48ec-8842-856aba3df289 phenopacket.store:STXBP1.PMID_35190816_STX_32411386_Case_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d54258e-d095-4fa6-9847-36ede3fb4fd0 phenopacket.store:STXBP1.PMID_35190816_STX_32411386_Case_8 biolink:has_phenotype HP:0030875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ecf55d78-7280-480c-8b0b-67fc03847c17 phenopacket.store:STXBP1.PMID_35190816_STX_32411386_Case_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ee8978d-a398-4449-9576-4bc2688f2f0c phenopacket.store:STXBP1.PMID_35190816_STX_32411386_Case_8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e44fc91b-9003-4b2f-b4e6-bcd546fe59ad phenopacket.store:STXBP1.PMID_35190816_STX_32411386_Case_8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e6ed43b6-814d-48c1-bb73-0e07a6d24464 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c9b209f-b9cc-4f12-b678-37313827df8c phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:651bf4e8-4533-423c-b29c-c4702ab41c66 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae0bcb82-6cfe-4d07-8120-2aed028c1b42 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70bd2442-8156-422a-8808-5a068b905ae4 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0100785 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d337067d-6007-440e-8e5f-527b9c2ddeeb phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e9ce53b9-4384-4bd6-8069-c5317756a39a phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37638700-1833-40fe-8cf5-c2fd429812a0 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:131ea000-ae99-4883-a85c-85a3a0b6bea0 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4899318-db3a-4e77-b97f-774768a65e6a phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b501853a-cca5-4df5-b3b0-3ed7cd777d5b phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f063a89f-add3-4aad-9497-05dd25bb4392 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0002465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f77cd27f-4250-4f77-9f9b-135d93d4c549 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c7b861e-e0b4-4451-8754-1411797facf6 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:087652df-904f-47a2-a41d-b0684a7a23a1 phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d3531e35-6ed4-4f09-ba03-77c60df508dc phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50c76b8f-442e-4e7e-b554-09bb5191fba0 phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_phenotype HP:0001305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2998f09b-1a1c-4506-bff7-6ac76c8083cb phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9906e937-170a-4149-95c8-b0bc007b5d07 phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6555b166-a77c-4d20-9a17-e28dd43dbda0 phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11980421-f5a6-4a57-b98e-2e8585096765 phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7f9ffd26-86d2-4453-b064-5fafdee21f3f phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:801e2e15-ed0a-4738-8159-c4b8c4aa9466 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aee8acdb-13c8-4f6c-93d7-fc83cd374a6c phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:769efd1f-b3fb-4c91-85c5-d1dbde2ad15f phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_phenotype HP:0040329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bb89c5a4-8e88-404f-bb57-4ddbaa101c00 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:540b0b85-46a7-4095-a57e-4f7defcda931 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e274e06c-fc70-40c9-a6b9-ef875fe847f5 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e080ff68-4850-4ea0-8005-5a9e81f3d37c phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c0af3c40-8821-44b8-879a-554539acf7b4 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ec7fdca1-9950-4ec8-a633-52e30ccb0c3b phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83869630-b3f5-473a-bc02-df631c9e8ba6 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8637c0f-268b-4c25-82ca-471930088a42 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9be48b4-6b72-4b85-8ae8-0fcfc0d1757e phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b884ae19-a27f-4406-a7e1-84370b30bc16 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c765d1c8-e417-4b43-b491-d2a38be18881 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5711e28c-f0a2-4f56-9bf8-5b7c0ccb85f7 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0001557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13ef811e-01a9-457a-891d-f2bc07e1d5e6 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dda57e77-7411-4eb5-a73b-4f545c7269d4 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f694f44a-5eb2-49da-afb6-f4579525eab4 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18e6cd41-4285-4aeb-9222-aaa6787f3fef phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea14d2ee-3cdf-4db9-9dcd-d419340c5ec8 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35190816 uuid:9b73b7d6-ac8c-44c7-8fb9-2e6a4ea54ef5 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a0370b61-85c7-4846-bbf6-0ae68caa1522 phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:036c9008-1350-4708-b8ce-4cb984de08fd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd0ac090-d92f-4a62-992e-c78e69a07b0d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2c21745b-57d3-4ac9-9654-b4b287aac220 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de19abac-1614-4c0a-8bc5-b5a29202f378 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2810e3d1-5d1b-4d22-8e0d-6b76d7832c1c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0002282 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6202a373-b142-4732-83f7-896da8519f56 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18746e6d-4089-4a78-b7d2-9c48bf84a975 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0011215 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fce51b39-c6b1-4bd8-a623-dcba1983d633 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2dc0c707-6e7f-482c-bbb1-9520d4920f98 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6be839f6-3747-452f-a157-df830c7736ee phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1dc9d4b9-175c-4b6a-8fc0-a5e6493d24a0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6998639e-25dd-4b7d-8a43-00bdc1fbd6a9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:297144cd-7637-4d9d-90b9-633dc67222be phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c141b618-f749-4c8a-9d3a-60b26641259f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_phenotype HP:0012105 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5aa70b2-d153-4b6f-9234-5fb34d011c75 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c583aa76-4c39-44b6-b03f-c0eafbb82f6a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:52ff03f8-ca42-4d05-a9f0-61731421b2e7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c9b0171-b11c-4338-afb4-5fb283854a46 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d81c47a0-7a22-4f63-8df9-d4a535aa0bc2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4570258b-d0a8-43fe-9fe1-fddbe31f9b3d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:42c334bc-02ed-4a7d-90e1-ed91521adf23 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d45d0c12-0dbc-4125-89eb-63ebd6f549e1 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0e7ea3dd-82c4-494d-8689-5d0c80da923e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:889350fe-eb45-4cc1-9cd1-4f19c043c2cd phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a4125e6-bc78-4895-ae44-9607c0a5b305 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0011175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aecbe790-295f-46c2-8d51-fc10f91b893c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d742dc3b-a607-44c5-bc03-92f8d1d599d7 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d8328104-a0be-46bf-9831-88f3342d8d3d phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66e3e7cf-92b8-45fd-8217-6941a85e10a0 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d40554ac-4295-48e9-b770-6db09d7bc3c3 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb5e84fe-ddf5-49f5-847e-ad26c2b402c1 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e453507c-435a-41f2-8986-00bdba77618f phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e22e4b14-86a9-43d0-8bc7-9bb833bde604 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:79f5ce99-4a1c-4dca-bcd2-976639216308 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b59a0c22-8344-4f4a-9042-ea83c0a618fd phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:54096543-1b60-45b5-be7d-5143f159c654 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3358321a-54ca-4cd6-aef2-a9ffc93905a4 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fb8ae75-9f0f-4b04-83bd-8bec4b21e0da phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:41e68110-0211-41cf-9243-764957fa0da5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95afb958-94d2-42fd-85c3-03e080dec53f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:751bb411-df48-49e8-ae0a-19a281dd3ae8 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7212d92b-c030-41c5-b198-ef1cc09da94d phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95ff4117-e58a-4534-9534-ce5dca690afc phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2edbbac-0be9-4e8f-befb-e85587a8927a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0002383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82b0612d-5885-4385-b4f1-26ac36886800 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a1f4fd3-e402-4355-a8cd-f1dcd6b075cf phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6220f6d8-b9d7-481d-95a3-0b0fb90e4d2c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67f765b1-8cf6-4895-aea0-f63c6409a9b6 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8231655-31ca-496b-9457-f09002663552 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4d093b35-8021-49eb-b13d-a9bec80de0cb phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:434fa42d-3491-496c-ac3f-8fdf583b21e7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0011174 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc9ff33f-dcca-415e-a069-e2d2226626e6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b572cf5a-d7aa-45ae-8e4f-255403a7ec43 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2576dad-4990-44de-93e7-2d3f83218ba2 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92870d8d-e4bf-4b3a-bec4-dbbf326ee0fd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fd7db8a-bbbb-4248-af81-75b0c9fe274b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6278a6e-01ed-48ac-a7b1-93437a764e29 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:84a74af7-cf17-4381-a43b-84ce82672e00 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81240bff-554e-4721-b18a-d3954683b32f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1029e975-33d8-4e91-acf7-2ac6ad2169d1 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cd945147-d3e1-444c-99bf-d51aa974cced phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39ab846c-890a-400f-bbd6-84a8a78960dd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:131d7af5-8045-4de4-9b0f-25880a5a1b08 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22512abb-5edb-46b1-b6e8-e1fe9ad40312 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:88fb46cf-b1ae-48f7-ad73-95dc3bdb9510 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ddd6f437-a652-42b1-8396-1d57fb781a9b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d2d3e934-999f-4f11-9963-ec2cb836d18d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80de34bb-2821-480d-b595-774a514f7889 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:634d7da8-1497-40ad-8ebf-b547b8c3d6d6 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_phenotype HP:0006989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c52f82b-9914-4217-95d5-0ccaba42f913 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6094c0b0-2668-4fc9-ac3f-b3e040abeb84 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e75ae41a-1500-41cf-807d-54f7ae7e266a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:49ed32ce-717d-4a05-909c-3d9396ea9d09 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ead2ec40-3e11-4703-a0a7-a45a89ea787d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a5f702e-45f3-4cd7-887c-d1d36d406973 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c476a127-fd2e-4ad3-b2df-94be7aee19c2 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5ba094d5-78ea-4c44-9884-25a30166ebb5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:464c15ce-655a-4ccc-be88-3f13307208e6 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:10c0d931-88a1-4c8f-a1a4-dbbc3bba2378 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2623aaff-2624-4c4f-975b-2e3df9142e62 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35dc8ad6-09b1-4bc4-b076-0f3fdc981fa2 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0562fbe0-8a21-4ffb-9e5f-a7269ad7aada phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d17fa97-156d-4f76-9c25-66d3ddd63205 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:12e9883d-973d-4e64-99f4-d10b9e806c53 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51536284-75b7-4615-8703-c88ab3156eee phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:38d44c17-b511-471b-ba96-ddfba91c19db phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e0f155c1-4131-4143-b35d-ec11d52b0874 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:078d6b7a-46f6-4508-bf5a-355df7285c1e phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6a3c2978-8b53-4d5b-bff7-ba3fec3ca2fc phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0002312 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31e2b9e4-f710-4585-af10-f7366fe7246e phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:17019654-8233-48b6-9e60-64f27dd0df49 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6cd00378-cf27-4671-a3ac-be0edc20a8cf phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3bc1770d-e9d4-4ca6-b5d4-12151e81b92f phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68fe98ed-4fd6-43ee-9f26-7075cfbd7cb5 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45930d7f-029c-489d-a704-d7981b0c2ad6 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1e5c01f-bedc-42c5-92a1-90fa32315ef7 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa75dbe3-ae83-40f8-8482-30bde08eb0a8 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55f1d47a-f518-4ce9-840e-00b40bf1745a phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bced98f8-a404-4428-9976-67db02447c68 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6428a10e-06a9-4cfc-988e-b1131471ddf2 phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb6cbe59-6436-4d8b-8f00-a83273d7092b phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:11144af7-d674-4ab2-b9c4-9f116ba528cd phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:514d9497-1e19-4c8f-83e2-681556b055ee phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_53 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25b98cc8-6a2c-431b-81fc-1b3614a4d7de phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_53 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87e1f7f9-0df8-4e64-9c5e-ff63f8bcd7b1 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_53 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:69547fd5-3305-4e43-8981-a2aa10e63876 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_53 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c4c385aa-f711-4abf-800d-d6a1101202b4 phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_53 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b7192b6d-b842-4259-b68a-0a0c43751b8f phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ea43ee6-2022-4f17-b541-95a2d412db22 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a853af8c-74a1-466a-aafe-b1e678044c0c phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7357d723-3925-4c57-8f8f-ac94b6605c2e phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4868295e-3b77-4f43-94c3-e1db207ad99e phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5d2c503-3918-4b56-8fba-2e9488a9dc2c phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f072bef3-2d40-4393-856f-647073ed26cc phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b961cd20-83cd-44b5-bdca-0a7beec725f0 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:69a39287-7024-48fb-8086-5ee03fe14ca2 phenopacket.store:STXBP1.PMID_35190816_STX_26350204_UK10K_FINDWGA5411254 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:00f827b1-953d-43c1-97a4-6f51bd115886 phenopacket.store:STXBP1.PMID_35190816_STX_26350204_UK10K_FINDWGA5411254 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6fd9057d-7a1b-46be-a650-0b1aec287c7f phenopacket.store:STXBP1.PMID_35190816_STX_26350204_UK10K_FINDWGA5411254 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:86da1922-a3ab-48a6-bf82-3fc938f59d65 phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:has_phenotype HP:0011168 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6739ca80-4960-4273-a219-17863739e4d1 phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:85765029-6eec-4b99-a2f3-a800d0a6c8c8 phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6bccb36-ee33-48a0-929e-461d6692de3d phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be61b651-54d5-4c93-ba11-74151f4229a5 phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1a90d0fd-8251-4b04-9366-87e4377717de phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:707271d8-42b2-4687-812d-7e531f91bf2a phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ad031d6-3e4d-43a7-8984-87e69e0ad33d phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0a7d2aa-09f1-459d-8919-d224f31945f2 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4bbf3da-fe53-484e-bea9-419790393d25 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dcf71f23-0759-4b0e-a4e5-304051e1b355 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7835a273-f0d5-4f1f-a4e4-ee043f50bfa8 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:def8c2bd-aa46-4715-8632-fce1e228bfc3 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6b075068-29da-45a8-9041-d8ff885cac3c phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3bf7f84f-7e91-4259-aebe-c01393b3b1ab phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e4db0f4-c70c-4f4d-8a1b-3240b7144f92 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0002392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8483e344-632f-48bd-b009-0f5a75582a69 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75f20fc9-ec7d-46cc-800b-13405c3a30d7 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:082a46cc-d526-49d9-8df4-6927b8bba1d6 phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b883bf82-e9c3-496b-a729-e4a92cb495ec phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3c5571ce-a6f6-4da2-86bc-ff73c69ced5a phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22ef9e09-7e96-485b-a85c-7c26d28474a8 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8aec3ec-822c-45be-8cc9-c6c42a94c9d9 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60edc305-56a1-427b-bfda-f64c05d74b29 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13570402-f289-4b4d-94cd-a6942d5e4cbd phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5ddb9ffb-e8ec-4248-9f57-52e84ff59596 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6610cce3-3a82-44c3-8303-a78c820944a9 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0000253 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11f2339d-0ccc-444c-8b81-8ff57e8b95da phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29e092ec-d6ba-4e00-a2cd-828b46e2f2e1 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7226d127-9fa4-4d87-8192-063293f8a1cd phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea853577-76cd-45ce-893a-76d9fd545679 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31b8a061-87ff-4203-bdb5-0cebdaa14017 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f416ea2-5d6b-43db-9c04-4006d00edce6 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7dac7514-a63a-442f-8ebd-3050bc04f998 phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1cef31b4-7f66-4a1c-8a49-539f6c686b16 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae098630-8fb4-4a8e-8ff0-4318e7db90ac phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5767de0d-5800-4e3d-8cb6-08d8cce0a56e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b8167e97-6b94-4d6a-bb9b-f2b89d7b9c24 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19d464d5-37c1-49fd-9c26-be3f1fc7829b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d24d041-6c2a-49a1-bfd9-0787314f2bfd phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45f3a61d-0dcb-4382-a85e-eab06d56e02a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c06bb465-4cfd-4939-8f72-632191391862 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:49e958fb-d5aa-4186-87ff-22eaedc4a3a3 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cdd887fe-90bc-4f12-ba5a-6aabcbe1c3c2 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5170389-6252-4ef7-a628-1cd128636fdd phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a9ee113-b30d-4f0f-9850-845e0ea19ec2 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:dd0c64f9-9eb0-49d5-93fa-1b37f51d1c54 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8b40a33b-ee01-4596-9921-971c228cde8e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d04bc9c4-b7a5-48b2-923a-aa1a80aa1511 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:392d8049-db05-4fa9-b000-96d2d3c9c66e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03ea2b3f-acaa-412f-96de-25b15b4700cf phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fa36214-3573-4369-a4b7-7c73efae9700 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:067f5926-e968-4aaa-a450-7c064ec74831 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23aa6723-cf39-4d9b-b197-0bf1a702bb86 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6585434b-286c-4522-8620-f0cb1d5679bc phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cdb8859-7753-4b26-88e6-6eaef711aa20 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3aef4ef5-0ab9-4e64-95f3-5b8a926b7054 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a164efac-d42f-4bf1-91cd-b349f9001c53 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4db5d15a-6cc5-4f1d-836e-e0f937e0f19f phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0002349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cb1c7d11-c306-4292-8e8b-17d698ef89b5 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0011154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a46fcf13-026c-4627-a9c5-57527535208d phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6fd81f9-a33d-489f-ba07-b055e64252fa phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e25cf7ac-ee92-4d01-a890-c59cc4e67dda phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0b4f9a79-3181-470b-afe0-3295157b1f75 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:72a6e209-ea27-4d53-bfc8-40ca8846bf41 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0cc63f98-b7af-4b6e-af07-db2287885736 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f94640b-cbcb-4a73-ab8d-48674d16cab8 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1e6b6f95-6770-460a-9d01-120e1799dfb4 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5d94215-9be9-4656-8c46-6feb785b68f8 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4561a86-b06f-47a2-bc36-2dcd58d50e09 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:148b7022-1dec-4e37-bc1a-ffa1b2696d02 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb422c92-cd33-4a0d-806f-291c7d72141a phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09c7773c-463a-4053-96c0-793ec8c7322c phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:971c2507-816a-44d8-ad3a-f6cdc5cb4442 phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7da52e96-c348-4ee8-a591-5a01a2a3dbd8 phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c985fffb-a341-4998-9238-06d6acbd1a7b phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82eeeadd-07bc-45a6-9907-e65dc936606e phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0002445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7175a571-0e5e-43c1-b011-3f914e46d84f phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:73f75ae8-075f-49e4-ad50-54e7ded32d9e phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ed800f4-93b9-4d28-b86f-51da6b82f58e phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93f4b038-8dc9-45d3-88ca-54875556c90b phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3acd9caa-e9a1-4eee-a847-1931c6e28264 phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75de1a52-7c7b-4c07-8c30-0a4a93201683 phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51d0b8d7-1e1b-4a97-9040-0e48cc8296c8 phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2867f110-e976-48c0-beef-a460653577a7 phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7b80d549-6235-4ab9-a8ed-6b5911b18a4e phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3efdcb34-1258-41d3-b470-56b80759d362 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1ca375b-66a6-434b-9b3d-5b417d08cb92 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a8d857b0-b078-483a-aa20-231466e17e76 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5de20bc-102c-4b86-a373-a6421cb07205 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c8da7c79-9647-40a8-ba9a-15abe9838d2b phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:98c495d5-2d56-406c-9512-27bbae02ed1f phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e3c81011-1bd7-433d-9ce3-4bb42701a87d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0025235 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cc345f2-6788-439b-9331-6d78928727af phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:452085b8-7f0d-4827-a5b0-8de767013c6b phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0005949 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:38b93355-66ad-4b2d-80e3-58874916f035 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03620a88-e231-4d2e-9625-322fbba380c6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7885484-6402-4638-91df-830bb65840bd phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:248c8d0a-e3b5-4038-ad4f-cc8426391e48 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a21a5c46-4d2c-4317-bc7c-fa00492871d5 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60f15bd7-3258-4dc0-9dd5-67dadd5c1603 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a18fa7cd-56b1-4cb0-9ca3-d4bc77c00250 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:83b7e700-6d66-4dd6-9844-96dccb79de43 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3e3e386-7a48-4edd-8688-86d196c70f47 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2ab1ba5-43f0-4553-869c-75888b6d2fdc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ddc2deb-28da-4f54-95bd-31b0e004cca6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:072a6c29-bc11-4c5d-9ed4-c47c5c1814f8 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f09707dc-a720-4b98-ab72-05e87380d20c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:990c7868-0036-41c3-9c5c-ddfcbf9ab8ab phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5e33af2c-f1c8-4dd0-a77e-20daed701c81 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5b62bd2a-a761-461c-8428-cbffaf59cfba phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0001548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f919cf7-5e02-4152-b8e5-341c5d08bd46 phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f2ca456-0f44-46b3-888e-4404871bc71e phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0004324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1469996-3aa5-4bce-b362-49cd2abab41d phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7483637-7b49-4bf6-8d13-0eb5501b03f4 phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4624014a-9ea6-4103-850c-e6d1dc5fab1b phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c88556e8-28d0-422d-85e0-3df650d8ab52 phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:33edcf76-9f67-4597-96d9-53a1b063b089 phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3beffddf-7a45-4346-afa3-026f4eaa657c phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0000712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0108d8d7-3d6e-4ff2-9fb4-ec13bda5c3c4 phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d4a9aa5-2035-4557-b8d4-d23c81c62e6f phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1cd968f4-336a-49eb-8e30-a13200d62dd9 phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:992d703f-e326-44d9-ad6a-941bd2d75c8c phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fd63a57b-853e-4b41-b833-60a89fdea052 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c97690f-7e9e-4851-8fd3-56d4b7e40d93 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c63d7ff6-4bdb-49ce-8e3f-4f7426f773ee phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3ad4cc4-56a9-4352-904f-94a74269a4a9 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:56b2d1ae-17a5-49d4-860a-4bfb7cdb3915 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fef4d6c-952f-4c5b-b63a-12491e17cd05 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fd7072df-359c-47eb-b65f-d28e80b786e3 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64afb08d-128e-4bf9-81e3-bc15db22fc8d phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48880465-b8da-4c17-90e4-5a22ef8ede86 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:693f9bc8-cf86-42d5-a6f2-c966320475e8 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2555acd-86a7-4428-9bd1-2d99070843c0 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d194036-4851-4bf7-95f1-fcb531dbb63f phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9ceadf25-9705-4f40-a22b-a93bd54e51f3 phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9f748132-2bba-4422-926c-7e9873e418b2 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_65 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:feab3f9d-68f7-4ec6-a8ba-863d5c43450d phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_65 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:226ce683-02a5-4bac-abdf-e43fd2e90e64 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_65 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3dd305a8-edf9-42d9-ace6-91c368ec677c phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_65 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4f1bd11a-61e9-4e08-8850-5a5e33eaefce phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_65 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:11cc8e3b-e309-494b-8e47-97ab44d9b4c3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d08981ca-6d73-4db3-bc2f-d09377600b73 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:788fbd16-ca63-4d7d-a663-f8b7e68a5e22 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a08c714b-fc36-49f8-a9d0-49406afe18c0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b9f2e1a2-c3d0-489e-9d97-acc3ce4010ad phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f13856af-0493-44b3-9f70-23fbc04167d6 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11cb1c2e-7632-46f4-bb14-dbec84b7ce89 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b74226e8-0bb6-4d7f-9d91-079cee7e6162 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d5807e7d-5031-4590-9b08-cc3dc5b8c8b0 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0378b6de-a5ee-4876-b5e8-5034e792e845 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4fd08741-d0cd-414f-beb6-08766c32bc70 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0002104 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:98c84ef9-70cc-4481-8da0-0158c5dae40c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_phenotype HP:0004879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7b82c4f-9bec-48a8-8117-c7f4b38c9f09 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5d72b273-771a-4114-a9b2-1f13097f73b3 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a20665aa-d33d-4102-8855-050510f83fed phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc92893f-077f-481e-a775-ea5e94465263 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c89fbaff-d006-42bb-82d1-cf0ec4bf3904 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2be2781-2e33-4dac-8f7f-593ab4ee8914 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5470021-26d8-4974-8c99-60beadf31ad9 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0008185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4cc7e8e-92ad-420c-80e5-1cf0749e8e40 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac382747-52ef-4687-899d-5ba5fe119646 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9f324daf-dcce-4a82-acd2-8d8e5e26b261 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4244b8b2-5db8-4f9a-bb90-1790a0ee69bb phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58aa6d4e-8c11-4be7-a451-7e2318b5fb17 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ebb66e7f-2eed-4e22-a5a6-65faca8ad23f phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cf947a5-dc6b-4f89-a876-81c4d6c6dd08 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a2156cf-de30-4a25-b287-b011175f2a9b phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0002599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:532a6815-2fdf-4059-bf24-4b3b216bd356 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:69279369-8465-493f-8cf6-f719146d8665 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0b3da7a3-1255-458b-b7b8-6f28972e5676 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:23a825cc-e6c2-4695-b932-8b4c38a3e7cf phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f80c0126-07de-4b83-9b4b-1a65111a93e9 phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:746527dc-7078-4bab-ae79-bb6692fc19db phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:63c904c3-4794-47e8-95d7-259da9d40dd0 phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc1572d2-853b-45fe-94cb-e767a42d573f phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_phenotype HP:0001264 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a773e1b-279b-4408-82ce-8c2f242ec12d phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:aa4256b0-3073-43eb-aaa7-f14c18a221d0 phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f52ebf32-82e9-4e94-a8e5-35951aa2043e phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3094167d-d2aa-414e-a116-df0a7fa39c8a phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:484edb62-ee43-4e42-8e19-15c16f867639 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:has_phenotype HP:0011343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2455363-b3f3-4db9-9e90-3cb570e0245e phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:027fbcc3-87bc-46b6-9823-ff0f98a7a746 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e758484d-751c-4ebf-b12a-f03a78370466 phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3a57e92c-8e6e-4397-994b-b5040532c38d phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ba1c1c9-20bd-432b-a062-0cd5b07c3971 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3abe08c-beeb-4a85-b736-bf4e8e76475b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07c577af-7d93-42fe-82f4-488a1002450f phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0667280d-4e86-484f-a204-a44e0f9e42dd phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1885c04-f038-4027-93d5-22063dfaa220 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34a6c150-eb66-48d6-9dd1-93662ab51f78 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4aca2e2-8d41-4857-a13e-c75274bd44c5 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9dd44a3-55e6-4dc0-8992-3780ea45b64b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:141f65e7-e97c-4eec-bdce-d85cd02284db phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18d55adf-df5c-4cb3-a226-1bb4b425d350 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0001531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1889c597-748f-4954-bc38-62dc2f1be4bf phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0479b5a8-2e3e-4f78-ae24-5b1072028651 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e4b06c8-e469-4c94-883b-cf6f752c760b phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cd35bd63-e6ba-4ff8-acdf-407a4858cc7c phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51fc885e-70f8-4a2e-ac85-356ac39047c9 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1875d50f-da27-40b4-9b22-718405864aa6 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:164b1f86-1365-42a8-b436-91daf0b4b8e1 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:64eb8285-61e9-4c8b-b4e7-332968882841 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_60 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f43aeb23-269c-4088-a267-c1e42bff3d4b phenopacket.store:STXBP1.PMID_35190816_STX_27779742_60 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ad9b72f-1515-4df0-bd09-727161e18f69 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_60 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:71328812-588f-4be4-a6bc-bdf9559db829 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_60 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:06e44061-7469-4525-90da-0625fbcae7c4 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4390ab66-d02c-497b-a275-8b3647a09bf3 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbb5b0e7-ccb5-4363-9a1c-48228d518d3a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9ff6a588-fabc-4ef9-ae78-6f90e03262b3 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c1ce167-8980-4c9c-a0ef-d276e1a2882c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20c46e30-ac9a-4a2e-9c22-1ea231cdc00c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b4711abb-5a83-4ca7-a7ba-f6c35afc82b6 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4c357e5d-4255-4bdb-bcbb-675ee71201ec phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7b261791-eb33-40e6-8bdf-9659906876e9 phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19d801b4-e578-4b73-adca-2350ff7d8507 phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3377f9f-082d-43e3-bf5a-41c884abcffb phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64f68b17-6b44-4b65-b810-df432ebece61 phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50d73ec6-3aab-4331-b067-28517c06e9c5 phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea3504da-e721-4f64-b75f-a5129d2bf86a phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5a2a911-6d43-461e-8b4c-38cbcfafed2d phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca37aab2-b1f1-4f52-881d-aa7afc80697c phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:210470c4-829b-4df3-b852-31ef62bea65f phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ce3bc9a1-93f1-4168-9055-e5e2c672946b phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59593ad5-4c0c-4387-a65b-ef039c9d4822 phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d4493aa7-4502-4d56-9590-9bc39ac466c4 phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:15f3bd82-bc38-44ef-a046-7390fecbcdcf phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:203fe9f9-f839-4069-8ca9-773abe46b424 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aab851a5-6fa9-4594-a8bc-ca6a080da508 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4941cba-f07b-4180-8410-2dc8a1ae89e0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f15ef9f7-8596-4dbe-8563-6795c9e7b8b0 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8e457f6-d04c-468a-b07e-3566b16fa23e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a23c6f05-7b4b-4e8e-8c53-155eb5aa731d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a4c02d8-cad1-45b7-90e9-1f577f3653cc phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:477587e3-3d51-4387-a1e5-422f4317fe6b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d769006-65fe-40ac-b93b-3e3d93278cc8 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:343d57b9-673b-4472-8871-29bee1e43b6a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ef83770f-764e-4032-8046-54184d1c570d phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f7cd26bf-e40b-43ba-98b3-af1c3373aaf7 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b90ead6-f4cc-402a-ab89-f60c12a6ddb9 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c298050-c13b-4098-a487-8216d92564fc phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0011173 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ef39a29-c45c-4262-baca-3950cc1cdd43 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35c0ba2b-48d7-40db-90c8-94a1199f6eff phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fd5c0890-19ef-4f3b-bd87-d14ed85391fe phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0011296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3346f4ce-f515-485c-8c64-5546289eebeb phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24d340bb-04cf-42c1-b331-6c63504a414c phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48e7c7a4-2379-4113-b0b8-4d4d5a23dcf4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7eada3ad-e45f-4293-9dff-079dc76b3aaf phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:510ff8dc-1435-4dad-a27c-f1abbd98acef phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0830777-6437-432c-a65d-1fa3fefbe352 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:336235f8-6edc-4542-9b9b-7bf576743caf phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1fe43b0a-d127-47f6-a200-eab43799b380 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aeb2a721-f8eb-43b6-9b6c-f7a456d74ce1 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:65a6d889-0805-45dc-8e9f-8bcaa8b5dca8 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c77d6762-6ec3-4330-a531-bda0e9686e78 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1768645c-6534-4047-9347-aa1edbd48b92 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abc33b4d-ef05-4a19-9c4c-659fae360980 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5dd66c0-f56f-41a4-a395-b76aa828ef00 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:84db582b-b520-43ed-8dfd-33bab04d1fdc phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:93dc9878-8b3b-45ea-8792-acf24b1d54ae phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c44b7579-be8c-4b19-bcc4-d54bfe4d35cf phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cc5e9af-48fc-4078-8d5f-b563b6e51496 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4154cc4f-1c66-4e72-ac34-8709b0d90f03 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f1e6f0b4-e428-4a49-ac12-0438d6c5f95e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7e6e4ab-dc10-4dff-9804-8213e2269ffe phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:617e2a34-3738-4b6f-b5d7-0863de059d3a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea7925d3-2634-4d2c-8c48-ab79f08cc4db phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43437d86-60a6-4759-819f-820b89145a35 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:631b65db-ee18-4f11-853d-8c086f04040b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6413b7a8-9310-4ace-8959-67ccd5cf6615 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b653b201-7d8e-49b3-939b-534bbb2280af phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:69adc993-fab6-498b-90de-885474a2f64a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3f39db0e-93ea-407f-8f9e-800126a7cb08 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:89e43058-1075-400f-845e-925d45d174eb phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0fa388af-4d18-447c-b008-0aeea2b7be87 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be861072-925d-4482-ba5f-edfea249d379 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc8914ba-4792-42de-854f-d0b5420f33c3 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d164f23d-8faf-437d-8632-25306ce029b9 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14c00111-f935-43e5-9ded-149bddb04374 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:57524e44-feff-46ef-b79b-d4869fca5143 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2a754bc4-c9c0-46dc-8d6c-05a8bd7620f1 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e230e07d-99e8-4fbc-b8f5-7369bd35eef7 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a569404d-8a4b-463a-9e65-371b8db0b49f phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5ba30f4-985a-414e-a41b-95ed694c94c0 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4bb83372-c48b-4fd9-b25a-e7c2122bcec2 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:522d45c3-7d7c-4b63-b830-0f17bf05b186 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4144dba2-1961-47ce-a666-f4b411406117 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7f898a4-7855-4b48-8909-189ea5b6a458 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0012743 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18832ca0-c8fe-4766-962d-383e80d0dcd6 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:550e2a6e-bbc3-4803-a4f8-88f27c5c83f0 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0011201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8320db0-2d00-4e2f-99c6-0ada5fa1901d phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a33f2ae-0b20-4342-9034-befdbce56e8b phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2df8786d-03aa-4981-ab85-6fb737006f52 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d0321b91-989c-46ae-8392-72b028c0eb66 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ef8fbab9-6585-464d-b0a8-e08db1eaad8a phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0100738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:52cf451c-82f9-4b96-9401-240a0d4b612d phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f957e829-1460-4034-bdc4-6bbff917e7e8 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9b4ae48-02bf-4165-8341-7ba5a939d63f phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0006297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ee6fd69-1b70-4de4-b3e1-761fd091622c phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b343c82e-1552-4ef5-b346-12a5ec34a328 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:410f632d-288f-4a19-80ce-19e6917e4fce phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_phenotype HP:0002060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35190816 uuid:18243dcc-a19a-4d00-8878-8aeb35adf944 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0b56e257-debb-4f45-a136-be56d870f796 phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8f5c892f-3233-40ef-bbf6-e3e67c971289 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4d1ece4-9eaa-4e24-8d49-10426fd57f94 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28a08b6c-43b8-4e5d-bf8e-38aefa8976a9 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28237f22-c256-4fc3-a2d7-408172f53bc5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59044329-4f3c-40ea-b6b5-9b1ab28a34ca phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75ca6c1f-0300-4e0a-bbc5-680ee3cd3454 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e8aa55e9-4449-4aff-a510-84a59961fc43 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:77045760-d5e9-4735-8d58-de60844d59aa phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f82f1537-845c-4709-a6c0-9c93f8877ab5 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc744af9-44c7-4ea3-8765-dd390d616f74 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbc03a42-51b9-4323-8234-7b3c4d252412 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aaa232d2-5458-4006-9881-7a97d18eb07a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9cca10ac-6e53-4855-b091-bc6d34af2c95 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:92ada271-1c9a-4f9c-b41f-1dc41f725e2f phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e0813ec-e8bb-40e3-a7fe-c070e8069c14 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0e1be879-2203-48d4-a0df-5a3ec79b3756 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dae021a9-80ea-42e2-bc05-90aafe4aaa55 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09c1461b-28cf-4b4f-be4b-532486843e5b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac955f7e-6b66-4a1c-9324-43035c7eda20 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:44c557eb-0fae-4273-a238-e5dffb1197df phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f75b90a6-f4ec-40b6-87d7-74822d4349e1 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b2cd66f8-218e-4503-bac9-e5e1b9fc6251 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d30f983-e8a8-4327-9f00-107caeaa29ac phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6bb25f2d-6584-4e36-91fd-b1cc63a385ef phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a51bf7a-4bc1-43a6-8e35-7791c4922fc8 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30a06211-98aa-4802-aa3a-4f04c8e9cf08 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2dcc36a2-253b-4669-8c58-3484fb62a9b8 phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a5d3e5b3-a3b6-4066-a3ea-13d13f99d39d phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f341331d-e101-49a8-9c23-3c3aa36edda8 phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a8e0508-7b88-43f9-815b-434413b9938b phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:has_phenotype HP:0031951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:800f81c2-28c2-4b40-8e85-aa5ecbc9806d phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b32ee602-3829-4e00-ac25-9f398082a35d phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5300217-5d64-4caa-a193-5799e3698649 phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ef58f5e6-15ff-4c3a-b324-41bad5c5942d phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1362cb1a-d666-4e18-a62f-fcfa99934864 phenopacket.store:STXBP1.PMID_35190816_STX_27864847_017P biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:794fe155-c612-49fa-80b5-6ae3cb6d8c0a phenopacket.store:STXBP1.PMID_35190816_STX_27864847_017P biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18c9f9cb-750c-44a4-b911-bc2074aa2950 phenopacket.store:STXBP1.PMID_35190816_STX_27864847_017P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b24aceab-f576-4065-874f-74eadf4dc40d phenopacket.store:STXBP1.PMID_35190816_STX_27864847_017P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:de77d330-1a7a-4258-ab9c-85824fc18d6d phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_66 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3f6102f-3714-477c-8be6-2b74252ba3dc phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_66 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55341d0e-ab21-49e1-8f56-ffce2a72a15d phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_66 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aa843743-469f-4bd8-bfe9-f70d7957df80 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_66 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:445069ca-ed56-4226-8f0d-abf9dd23c7a2 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_66 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b78a1c7c-db25-455b-8f85-2d1079302a05 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:997fdb80-3133-4e51-afdc-3e0feb1a0517 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0851b5f2-22a1-4ffa-b9a7-81cb4561810d phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc05c31c-33c7-48f0-ae94-40f14afe49ed phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b18c6ac0-482f-4272-b4ab-50b448091b91 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4f46cb3-9005-4336-abdc-81998ac68d65 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:964ecb99-d4c4-4451-9f88-689f45b37495 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a05fe601-46f1-4f79-9484-d9057ca17a03 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5fef6bec-d9cb-4d30-ab33-806a7229b904 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0c518030-8c38-4174-bfae-70cddb69c247 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7bbf591-a86a-4543-aba3-6e23c6c4f188 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:06bd488a-3d91-4eb3-bc8f-1699c8ea7de5 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2971dec9-bb0b-48c3-8c7b-c3d06240268e phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0012448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b629448d-3a80-4fd8-9fe6-48728b3ad61f phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4ba61d6-2b72-4ba0-8a81-6b3393d5db42 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:de99a770-33fc-4f0b-8464-25bb06281767 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0010576 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:396fb86d-bb2c-4f19-8d12-44c89448692b phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f550e9e7-18c3-4ebb-af6e-448bee8605ed phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:27615f94-e514-4171-a478-552b69c05c0f phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0030148 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af7c706b-6fc7-4441-8d67-4ccabe8955e6 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0000177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:76a8c58b-9b7e-4bc0-b2a6-ee76f49fceda phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0000366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3e4d634-53a3-44e3-a6d0-fb61ef917d08 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dffc956c-b28e-45b9-804f-eea2ff8e6266 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0000682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a70a07f-71c9-45a9-b87b-924947073199 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0265935a-b645-43d4-a9c6-670642a09330 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d836968-138f-4c77-a34f-5bc1f9fd1261 phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b62be250-86b7-427a-8152-eefa058bba4d phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:eddeb7aa-a897-4ab4-bfcf-b95e8a2dccb5 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P34 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a84486e-fea4-4e0a-9c0d-d91ca990f11e phenopacket.store:STXBP1.PMID_35190816_STX_G3_P34 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fbe2e188-e152-4d28-b80e-e2cdd0511117 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P34 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c816e57f-ac00-44cd-bb17-f7872670b3ea phenopacket.store:STXBP1.PMID_35190816_STX_G3_P34 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6ae99ce6-836f-49d3-9fa2-95737a11b1e8 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P34 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c3e6bc81-65d2-4e1e-b8b2-62ff852bfe79 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9bcc8a2c-da33-4559-9c95-26c300ab7bb6 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a33e484-a13a-488a-bb2c-78a731e76487 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:64a2e7a5-8262-48d2-9959-d41da4675f86 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4d8740ad-55aa-46f1-b63d-6ee572cc7bdb phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db9e5f56-ce7b-46fd-9114-366d23fbfe36 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:76fbb9ad-a5ad-49e4-a0ee-a9518f8a1bbd phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1226676-2051-459a-8b86-3ab5ebcb8519 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0007328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dee4a9d3-9796-4e1b-a950-d7d3fc8a08d2 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9304ded0-fb7c-431a-a6da-fac6cffeb54b phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f7cffdbc-7769-499b-9aee-8706b571956e phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc93557b-a2c2-4e3c-a690-bf3181f5b3ce phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f193c439-b96d-4c9b-9842-5030376eeed1 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cabcab9-11d3-458c-a72e-0f5eefbabd98 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:397f3a01-e26c-469c-a9b3-bbc9ab7ff847 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5724a740-8422-410e-a5b2-24a70a637e61 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a6c4d943-1c09-4d4d-a2fd-131d962d0752 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c27d2b8-d149-4e19-aad3-4e98f139be69 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:079727fb-0c6b-4225-8cd1-598dc9801de3 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0012786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48422d46-8349-4d50-bb5c-808aa875263c phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c4c5545-5753-4c6b-b73c-9d604b5d9650 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67cc4236-2166-4611-a76f-b13c02ecf0ab phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e74f9c9c-8256-473a-9830-f9c160d5d211 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:884930ed-5533-4a80-bd29-001983cacfeb phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7686732-deae-4fcb-93ab-c221fd70e4f3 phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f7550f87-cf50-4435-8e75-c78555a770bf phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fdf79bee-e309-4a55-9623-8f1736890c18 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f5ac0c00-c80a-41f5-8d65-9b7d3a6974fa phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0012172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bda374dd-4404-49e2-9308-a2b48d7e9c72 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2659662b-292c-4550-adb0-3b8cc0b23bb2 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0011451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31ef0ed9-9f8f-4c4b-bf78-e3bd77995a6a phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d08ee732-b19c-426f-a8ba-3c61ac2e2bc0 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7d35ab0a-68be-4a7c-b7b2-463bd3b0b4d2 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0025387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b450acd3-b1be-452e-be3a-58ccf751c3c4 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0011182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:74105f4c-69ef-49b1-b09f-41a10f1008eb phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff1673e6-423d-4505-b1ee-41c151af8481 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:15c06b2d-6b76-49f7-8bdb-03a4592fbb01 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cc77f1ef-566d-4c09-b8eb-ee35f22b6847 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:647ba9b7-0717-4f67-94cd-6089e899406e phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:493b3498-b8e4-4e6a-8d4b-2cff988c7dd7 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:90fa0e57-0855-42dc-a046-2c276ba22454 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2b6ec52f-aa4b-4928-9235-b378214e9680 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4b5144cd-3f07-4900-894d-e84f51f30c7d phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0001601 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e7e22b10-2459-4500-b4fd-335514c94cac phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:269a2872-ac5a-472c-98c8-faaa8e71fddc phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cd8fc100-50c5-44bb-aa63-0577640f6f65 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:581eeac9-fe1f-4665-b718-f4d123d0503d phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43fd3717-be78-494d-8751-071ef1a9bb20 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ae0327df-24ab-4013-be38-6bc7f3c57f63 phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:90a4282f-8faf-4d38-b704-294fe3ca0ad1 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_3 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:351104ee-b917-46d7-a3c5-74f9472593bb phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e6ce6e8-86d2-4ebf-a7d6-893e0925fc29 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:58a591a9-8095-47f4-a624-823b6dd91aa1 phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7bb3ca3f-96bf-4730-a7e8-06f76e1a784f phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2846c985-2389-4765-8727-a65f35930000 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1037eafe-a7d1-42a4-a5d6-68517d8dd1f6 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dad20fd2-5ccb-4013-9b45-24c0d14fdf7c phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3a2739f-020d-440d-8a4f-aa1f4ebcc6d7 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37bc5fbb-7a47-419d-995b-91d66b5d9817 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae5fd012-5020-4c63-82a3-bc7c3a57c1d1 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:694aaa39-01f7-4f77-a55c-b16dbb746dd4 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0693fa4b-f6e6-42ec-83a1-d4eb8ffd0fbc phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:255f0fa8-733c-4cea-9c45-f28fe551653d phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c222e397-7b86-4a06-90e4-390821f9be31 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8ee392b4-2197-4c59-a9c2-cab0f713a3c7 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc75afdd-f3d7-4ca9-9612-0a58928a16c2 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a84b48e-2039-4637-a904-5bc598838ef1 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal8 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:008049dc-5db8-4917-959c-00baa1f47eaa phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:248d807d-ee21-485f-ad75-aab3475e2625 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c328b46a-7d34-47bb-a127-364f94b3ab81 phenopacket.store:STXBP1.PMID_35190816_STX_58 biolink:has_phenotype HP:0000929 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2cd22dda-d14f-4a1e-a4db-6162c8e8f253 phenopacket.store:STXBP1.PMID_35190816_STX_58 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95c942d2-ff8c-466a-b881-29bbf86509a3 phenopacket.store:STXBP1.PMID_35190816_STX_58 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3fb3ac4-821d-4064-8a4a-534d0b984248 phenopacket.store:STXBP1.PMID_35190816_STX_58 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d05da100-b58f-4485-9772-b4ea31377fdc phenopacket.store:STXBP1.PMID_35190816_STX_58 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4d48489e-e54f-41a0-b6d3-56a6a72c1e68 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4317a5ae-04ac-4017-ba49-83c93faf5f42 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fe23b2d1-4c45-4dd3-8b42-a3dd7f001d3d phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9deeb472-591e-44d4-b5da-54dba68d7bf2 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0012760 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:463f10a5-f241-4f9b-9106-e3386b2d2d8e phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ffc7f4b-e0ab-4cde-a8f6-209ab1ef526d phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db1fadc6-83b3-4696-a51b-888b34edd951 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24ed68d4-5516-44a4-be9a-83c785464909 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e304032-9744-46aa-ba9f-bc2bba4cc58d phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8cf8d076-9dc3-4f42-9184-84968c65888d phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:46b4b7ec-3d6f-4cdb-a154-69b40e41696b phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:95ad4d02-fecd-4ab5-8f7d-02b808e6d1ca phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97bc4a7a-a5d2-44b3-b359-444d229fe4cf phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c415cde8-3826-4e36-9081-80adfcbf63b1 phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ade1ed7c-e0a1-4787-99b6-6dae358b1db7 phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:13fffd3d-0d1e-46ef-9303-0b330c1adad2 phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f6393432-959a-4857-8327-54ae2e2d0bc1 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed90ba85-88ba-4184-99a0-332c2968bf80 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b7b5b11-f9e7-48d7-9eb5-8b5a8f994a99 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5af95f9-6190-405d-868b-960b320a4421 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25be88cb-9c65-468e-9fe7-b625938853cb phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:599b08b0-a7ac-4987-a98a-39d9c8c480e0 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d1f74fbd-44ec-4cb1-b3f1-67ea96151581 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b83ef3d-a3f6-436b-a3c5-44c3831d6594 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0011193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:94e67e4e-22a2-4452-8ce9-e144b530a62e phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bccd1f92-2e8a-4c0e-98c0-e2725428d721 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2525173c-cfcc-4191-8936-b5d61b896631 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0012557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:191b32a5-a1bc-4443-b946-b9e46eb6ee37 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:211aa5f0-24e7-4327-9fcc-6f30248736d6 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddfeedc0-40da-44ee-8bdf-2ec84185d4e4 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4408d6fe-628c-460c-b4fc-925f56fb6657 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c3416f5-b68c-4e49-b171-cb0f8c1c0c42 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8db5b39-93a8-4ff7-9f6d-4c8969e640f0 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:37040d42-a17c-4664-b769-920568d7c648 phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c96b3180-3cc8-489d-91fa-e8cb9a0e3832 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9018deb7-bb4d-4e1a-82b6-13605ed7214f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:57e0f7c9-c496-4df9-9f93-004effef09a5 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ea3c91c-4f5c-45f0-b884-213ff4aa9db5 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:125b287d-5a0e-4be9-9450-ce280772fa2b phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a147e575-c112-44c1-8276-5163a161137b phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25ddea2f-7f4f-443a-bb7b-7dfa3adf081c phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:43fec72e-e8ff-4b63-bcbf-f2a19e0d07df phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0003121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:963b8654-67cc-4091-a928-73c3978bf3bf phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f0725ecf-0085-4708-9823-7003d78e28d5 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:306cae22-95bc-417e-b743-d34eeed7bc78 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28ff480b-32dd-4df9-8b95-ab113f241e04 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c76029c7-aa69-4226-a379-74438c2c16c2 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:851636f8-0d65-4030-8ced-631adb652edf phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97bc6919-c168-4dc9-8026-f7c716559662 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86f3d748-4647-4558-9032-e28a0218b006 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:61a8d137-364e-4a46-9ac8-4bee649858c2 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:578e5200-e5e2-4913-901c-85006b24fc94 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0000077 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:514eabb2-0cf9-45ad-a70a-23ab47282fbe phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9643ffd4-0c10-4010-964e-4391092e2cf4 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2c986e9-246f-475c-be99-28a54668001b phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0012387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:67351bbf-0e5b-4d56-99e5-8f5439400326 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a4dfa5af-2806-4469-bd1e-392a28eb6721 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:acb65873-2483-424f-9d7d-16e00f31fbb7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:42c7093f-be4f-4a5e-b59c-88396a86d4c5 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f226f73-f660-4c50-8bdb-a29335b15ca1 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e079db38-d489-4f03-b4f2-4dc78141eb6e phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7da11059-2556-4c18-b279-63503a56fc3b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13bb4cbb-5028-4b68-b305-eec3f5898ec7 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6096e4d-5eb8-4fb4-860d-aad145a17da6 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:813aff50-1fa1-405f-ba2d-1d4f868dde43 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c68a007f-ed82-4f09-a3b4-715c3541d795 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:db02dd0e-8da3-4ea2-96cd-8337e085bbb8 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1a057a64-b550-4f72-bb3a-120b8a678227 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:766f61b1-d212-4b27-8ecd-6daa0dc0ec86 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8157eb0-5be0-47a2-ac15-0aa2b8bbd83a phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:10dda158-e037-433d-a7ee-20c0ea7a87fc phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:10331949-3033-4b92-91ea-49962b6e9c7b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2710a28d-abc3-4cce-a030-34c6cf574813 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d2075cea-7b4c-42cd-9c67-80db17198138 phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:99a5839e-8a64-46ce-a3a6-31f9f947ab7e phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20ebe0e0-4e88-4607-ae26-2af8d0a710d2 phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c8284981-3bec-4272-a81d-73f96e9d5387 phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:345b3b37-fe6d-41f0-b7af-97451f8a2327 phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ec2a5575-6fee-401f-adfb-b17c895ef41d phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:540fc211-5df9-4a9c-a329-086cc237758d phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0001310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f070b9b-1904-46ae-907b-8728946460af phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd673804-27be-41d6-9fa6-052b9b31bc7e phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfcf013e-fa15-4f27-b755-e319cd854d98 phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0030187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:121f4474-c3d3-488f-b170-34a9848c4e0f phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f1ca115d-9397-4ab6-aa53-e18295f35e78 phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1b417b12-4478-4bda-9c9d-9533e48bfc43 phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9725864-a22e-4d74-8109-f0651c1527c4 phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a68984d-e4a3-4ab2-99f3-717c0d003907 phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ca0ba817-3d8f-4008-9ec9-83a6d04cfebc phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f2ac2b4d-1423-439b-a764-b2d9bacae712 phenopacket.store:STXBP1.PMID_35190816_STX_31054490_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3e679a5b-8674-4712-9a24-6fae15fe6706 phenopacket.store:STXBP1.PMID_35190816_STX_31054490_Patient_2 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:042bdb11-4739-4892-a4d6-578af4e586a0 phenopacket.store:STXBP1.PMID_35190816_STX_31054490_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0d1a62eb-eba9-45a6-8675-8a912552fba3 phenopacket.store:STXBP1.PMID_35190816_STX_31054490_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:780440ec-f379-4fda-bb03-14e120ef905b phenopacket.store:STXBP1.PMID_35190816_STX_27779742_123 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4f018a3-2f81-49a4-ada0-edc6570ae4c8 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_123 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b562bf72-628c-426b-abc5-4be959d260ef phenopacket.store:STXBP1.PMID_35190816_STX_27779742_123 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:50400261-04fe-444c-be29-77ed5d21c22c phenopacket.store:STXBP1.PMID_35190816_STX_27779742_123 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:732c3d9a-dee4-4f55-8591-aa164bc17233 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c48f289-ac57-45ce-9024-714b5201911c phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d71841d3-3894-46c9-921d-eefdb57f1b1c phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6789c5e7-b2b3-41bd-aab2-adf90530b03f phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2820bab3-3c62-4a53-9885-a96b48b36657 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0514c5f-8c71-43cf-bde3-5d949bd784db phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d017065b-2a85-4c74-b729-fc51bbc392e9 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8c397ca6-894e-4af3-943d-c67ac990e89e phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6df530a6-dc6c-49c5-a6fc-131ef4e029a4 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc7fd0b7-140a-4301-a1cc-df491f3ad28c phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:351fc8e2-4028-4b5f-a35c-4f9ad8a185fa phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:53af5cee-d8aa-4703-9fb7-826897186428 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a0468c76-f141-4f6d-b62c-a2e12d47436a phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal23 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14b3d4eb-e010-4270-8356-32b94f914839 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1415e1e2-1b57-47ad-8579-97025fa25410 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4f5e226-1095-4918-828f-55fc7f0c46ab phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal23 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a45f88b7-3b71-40f6-8ffd-8bcaab4ae4ef phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal23 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5b49165b-a5d9-48b8-8d56-756ac10f3d5a phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal26 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5d8c6880-45e2-4c65-a22f-6e21105e77d6 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ceb7b818-9b1d-4f85-ade1-17b9169e19e1 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3b21ea9-d175-4286-bc38-4e6ce339f1c7 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal26 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:4c799e75-3d52-4c55-851d-46c81c039dd9 phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal26 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:07407237-aa83-487a-b03c-3c40b2a73004 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ad928f5-6977-492c-af4e-aed4542f3217 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1207bf38-f65d-4527-9e2e-d1a7c7303958 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0011407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:16a3f1ac-04f9-40ca-8374-a1a6d519c038 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b1e7bb3a-e7f4-4378-8990-947cd6462072 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e957eb1-cad2-495d-ad46-94e33856a880 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2525338c-fdf8-415c-8517-1491138ee553 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fe8e4c11-e402-4877-ae33-9dbe8c86370e phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c47691c-3395-48c1-9b01-f8dc39097924 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b71ab558-61c3-46de-888c-6d74f207e7e4 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f143a5a-5041-4fd5-b665-ede1d9df8a47 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:976b1d9c-c234-46ca-b318-fbd6290dd283 phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:aa7c6b47-1217-4a92-99e9-20917f569cde phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a93a9306-f40b-4a7f-b8da-8d54176c384f phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2bcf1d2e-eb97-4738-bf95-ba9f85981295 phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2202933-786d-4ef7-af3b-1e226337377c phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cc6a0c3-d4aa-4e2b-84b0-20a748df063f phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9b25c9ff-c6b9-41db-a84c-983cd1f5675b phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c7a752fb-a537-4f35-bf9f-c9cc5631a647 phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:61d7b303-4795-4ed1-bfc2-166fdd2e7bcb phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d958bc6e-d964-4c73-9dd5-fb6d1af215fc phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cce1c634-a4ea-4f40-aec0-5011cca970e2 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6ed1348b-c1dc-46e7-9bc5-c7372bcecd56 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7dfc26c-d1f4-4e1a-8874-1768188ac2f5 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:396da962-4524-41a9-afc2-f72e29b6c3ff phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cd7b535-c8b7-48c1-aef6-70f5c1028664 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07967a01-c4eb-4238-b1b7-c8e9523997eb phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c431ee0f-34de-4ff3-9410-724cd0d70df7 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a62f88c8-e237-47ce-9af2-32707906e345 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acb3d275-29a3-4fed-8e46-43ad29ac6205 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:605997b1-62dc-4165-a8ae-2c7a80f0988f phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ea632db1-66e4-4e6e-9e0b-78da0a928fe8 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51bc4c95-d314-432c-8b36-9c2e0cd106b2 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fb8b2bc-5472-4968-8ad5-291d66bdeca5 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea36d06f-194f-4667-9eac-cd8a8835b067 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:51550b25-d962-4d8f-abf8-b1dde422c2ae phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cb9ebce-baa4-4403-a403-c5c2905dc4fa phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:392fe7a0-fdb7-4176-a341-4413320866ae phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0691037f-f40d-4ed7-8b47-dd0da049e713 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a7c5765a-db60-4001-b978-95ebee51e45a phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5d7144c-e10c-4611-b063-dfce221c9e90 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fdf0d13b-9c79-4456-a4d7-0029d5639b83 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0011471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ce1908b-b489-4d62-9bf7-58c9e64fa78e phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d69ad2f-f532-4b70-a664-2e19ca8a666b phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dba8a218-9590-4680-9d8c-d033002d6958 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:246d9f57-cba8-4e01-ab0d-a681b91ac8af phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6e7544d7-86cd-4579-a4fd-b3bdbfca833d phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:640b4f7e-e6a3-45ff-918b-e2b557bb6142 phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1ef577ee-1f0c-493c-bdc1-102b3570e1bf phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:96a38b6c-49c4-432a-bd46-3d9ae8074e08 phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3280bc58-8113-474f-8729-c5630f9ce4a8 phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:35cc2b46-5846-4227-adce-2fc40dd06e8d phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:022610eb-075f-4d18-ba58-1b2c97a05111 phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d090d849-75ce-4c71-9db7-43d4c1f86992 phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:600bd0ee-1e77-4d93-8245-4b0d12fd31c5 phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cbe21eff-03b9-4b40-a1d8-e08c98705d53 phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ce5a55b5-856f-433a-b921-6740726d6360 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a05a1dc9-7d99-4f39-bee4-fa8f02933645 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e2a063ed-45fe-4269-b7d5-b773575c8728 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:991cb641-0d20-47e5-ba13-2408f3448428 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a17c3911-6a25-4019-b7b5-3771fbe0ba0c phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7de71987-a29c-4324-a002-f6c98a90be6b phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:77433e1e-fe76-4ca0-b423-73f177543f71 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:975e4e6b-3e3b-4301-950e-9ec63bea6a2d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0007270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4ed3d32-e860-42f0-a28c-348d03807fe4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e46a797d-5bda-4d6a-a960-cdf42e9a9554 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b59da89-b1c7-4a11-8264-c5d09254bb70 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c0a3ac39-532f-4670-b936-38f6d3360761 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0002080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:84f09ef8-a7c7-4659-a6b4-fd4203f1da7d phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:97e1a17f-a2f4-4bbe-8946-c17a0e42d190 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f56f4593-fe94-460f-a5d9-de4d0b900eb4 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:812e377f-2c3f-476c-b336-ea19277d2c47 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff2d2c28-92a4-4736-9525-8728dee7febe phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:acc9f773-bb40-4eef-a728-2edc7bf96726 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5e026b29-6ff0-4531-8001-455b823d843e phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:986f84fd-a866-4b03-a763-44b7ef2c450a phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ce9c1918-cbd3-4de1-b584-0b97aee4ffa0 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ee501ed5-4891-4750-8dc6-4373104d9a2a phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8fda6d4a-24fd-40b6-9f8c-984dafbdd50b phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0002371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:091ca1f9-c761-4817-a375-a90ca581e09f phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfa44b79-a829-4654-82c6-25daa349379d phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6de5cd4-250b-40af-adde-2f9fcf2d3666 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:128c617b-4c92-404d-af47-caa90fedb738 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5db06329-21af-4ce4-ba4a-8b0e19384f37 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0006794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd969d1d-523b-4191-a22f-4ca79b8046f4 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddab1378-b588-4746-9e80-afae7a7ae2ca phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0011189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01fc9bd8-b14a-46ef-9a3a-37a19b58a912 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ca922bd-9b32-490b-ae24-9f3c86632ece phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ff128699-ece8-4e07-9c81-281f3f2a028c phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5f8a4325-3c33-48ec-8406-871b70834192 phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:53c4daef-4637-4499-a455-36d44a1642ea phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_64 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c568c578-fc38-46ef-86ec-bfbe19a13404 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_64 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:af9a1ef4-7d81-458d-80d1-5c2a6087127b phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_64 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5c672fe1-cb3e-481d-9350-3a7ce5df8318 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_64 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7fa8daa3-f2bb-447a-b7ed-af802b511e81 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_64 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9697f86b-e542-40ff-ae58-9ab5ab9b34b0 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f81490e2-b2ad-4d93-bf7a-7dd32c2b5b71 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9c4904be-4448-49a9-9c82-bd40888c6afc phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f1cd5ee-1e88-4972-bf5f-71f4a985045b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5544dcf7-61eb-44e8-9a64-4d4176329c43 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:09d2de65-c8a1-4ca1-8aa4-7d6363f5f00c phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:29256031-77f5-4dfe-953d-4392f1169725 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:272fccad-6d8f-4381-8af0-d0ac05184289 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ab48e6b7-37ca-450a-a8c3-2028c7953a08 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:26b1d33a-6812-4197-909a-c26d98c7c668 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5fc15e3-d5cd-476c-b90c-db103bcb4f7c phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0011179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:304aa8ac-7f71-496b-9fac-0524a50efc0f phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e6c9438f-c010-49cf-9835-b634846457d9 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3a9713b-54e4-4d5f-8224-a7b752eade67 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:effe1527-5fc0-4896-9fc9-8f142b3151b2 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac2db993-345f-4e22-b6ca-d1cac1ae0e4a phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37404220-aff4-4dd1-89db-d97bc003b941 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:def68d08-3e01-43f9-8a94-c1027063a090 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6c20e07-d30d-4703-943d-84f8a2d1d687 phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3b40c1cb-e715-4e63-a84f-c46e49eaf69a phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1097b943-a052-4da6-a064-cc0f007cbfe9 phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:feeb15e0-a6ee-41c0-9c39-d433671bd2a6 phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b6a98b31-d074-4a8f-a86a-25270b5a87ea phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6bd71048-8a23-4659-bee4-38a856dd8463 phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b033185e-0372-4159-af3a-b1b141bf27a8 phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e1a6e097-8284-404e-b054-499f5d759569 phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:139a3886-b785-4b6f-a94f-38b3cfbd5232 phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_1 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc2d1096-270a-4ff6-a43d-a645c7cb77ad phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dde6ff9a-61a1-47e9-81ea-728e312c50e0 phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e9b81fa5-acc9-48f7-b4b6-b2f91a7540cb phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:db5ff869-8138-4a5a-83ed-b3e8f6d1bd5b phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:304de70e-1edc-42ea-b4ec-b57f5ac76ec8 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9161dde-2f7b-451d-9422-e8482440012a phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc3a8b02-74aa-47f8-8e32-5346876890b6 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:625e3d00-7b76-42b1-9d16-325255d0af51 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6c6c23d5-a2e3-4ff5-acd4-8a666e281ee9 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:452d0e53-9e74-4bbe-b04f-aa7c26ec738c phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:19d370c3-6e57-45a7-b5ae-853500646c67 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1751 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:91ac5d01-f163-4554-8504-819c6d130102 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1751 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1a640de-f1c1-4601-850c-ae5e9c8075af phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1751 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:d8a7b0be-e57c-4a32-ab76-2941492e7f88 phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1751 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a87bd738-de5f-4ed8-8cbd-79602cc2c5be phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02b12156-7e2e-4740-8d94-1da18cef649d phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f55acccd-2509-4683-859c-cf4db9e6f87f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d94acdef-96f0-458d-8d98-fc5c72ab9a6e phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5bd2c136-ab52-473f-85e7-816028e39882 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ed5b9f91-aa22-451a-ba31-58a5019f7a39 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ec09a9d9-f4e2-4171-b937-2bbe3b69c6a5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4bcf49d-e7aa-4405-96e9-7a3413c24982 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:835759c1-b48a-495b-ad8c-d2a2d8fce876 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f589646-d149-4e0c-833c-53d3676677b8 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:055b23ac-6006-413b-b547-f15aa354e939 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0a528ca0-5a87-4d64-bfcc-c598d3fcccb8 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:70238f2f-ef31-45e3-88e3-776c0f191673 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4f1bf83-a52f-47fa-be91-8701a10025fd phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b625c83e-99b2-4471-aef7-96697a15acc2 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0031475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:24817133-bc82-48fa-b740-ee0608d24b7f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:22e994aa-bdfa-4ec8-a4fd-04dc9d643583 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2705a067-a2ea-472a-871a-ec2f30b94da7 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20822a8e-a14e-4779-85d3-fbde2b9a810e phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aeb5cd8a-4d39-4775-9496-3e311e798d86 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:5f55430e-c6b5-4c64-a5e4-4cdfd198e789 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0ebeeb9e-65cd-4a66-a82c-7f6ae58c45b6 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f176572f-7a2c-4586-8256-39e2e2349768 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:58eb3962-a187-4d01-aecc-2ebe0e5835c4 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:692aedb8-39bb-4cff-af89-a41cb04f080a phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:677ca80a-09d8-48c7-abfe-47a4ea514504 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:722d6de3-1884-4cef-aa7e-0ce3a398de88 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6f160be-5410-4f64-9ad0-8320ac9cb3d8 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:cf5ff1b1-800b-4920-a29b-937811e9de06 phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:30794091-6c51-4c27-bb0e-5afd88646d39 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fd4998f-eb65-4e13-94e7-b116f120ed13 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19c5fc06-51e0-4b2b-bfa8-088fbb00e656 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7859b2b0-9dbc-4d01-8a78-4a915ed7f07d phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c1f73deb-bf29-4af5-a30e-ccca1eed3a4c phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31e82b12-4967-45b0-8002-dcfa5753b9ef phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdbcc963-68dc-44fe-bd93-115692a0b82d phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0004324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68457030-e7e8-4fdf-80f5-2ee1520d2441 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:657d4635-a05d-4433-8010-ee2bd4aff546 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e23a75f6-3b3f-409e-b859-924bae693b45 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0001319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:31871918-90ed-4a57-9dea-a3f34852a0b1 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:827dce9c-4518-412f-94d4-3567f11c7884 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d3440e35-fd0f-40da-ae15-aa24b485ec4e phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0012018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02d6e76b-784f-4079-8814-2c28457e5407 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0032048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dcae311d-c690-4882-86da-c3e9096f3d33 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1d851a95-24d0-4aa7-a7a5-63352fb3c449 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1cdce144-8e92-4eca-8411-1097519b82e1 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0012016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9355511f-3005-4a6f-aefe-7cfe4563187c phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6381fec-3440-43d0-a073-98d766c7cb3b phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0009062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c54122b6-e77a-45b2-87be-09b70effb916 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a05dfbaa-f790-4b4e-946d-671d4d84a26d phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6af1650f-9781-464e-b0bf-29c4ea8cddd8 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:867daeaa-5a64-46b4-9da8-59c5eff9ed88 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3aee4ca0-a20e-4bdf-8cc0-a4d3794cf1f2 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0002370 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a83b63f6-28cf-4f37-b7ab-793106e056f0 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4dba12d8-511e-4324-b933-3cb1547a9f9e phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18da986e-2742-4850-9c57-ca9f74887f88 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5bdbcb4-9981-44ce-a13c-76b419384f5f phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0002136 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3f3162ae-01b7-4594-ba76-e72cf993feba phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ade823c2-a196-4c9a-a751-1d70823793e0 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bc43024d-16e6-4ef5-9168-0ecdbfb7d2b4 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ecd3235-8028-4f4f-ba4b-76ec0757cef3 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:efeec1ca-548b-4740-85b2-ae566dc24897 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c5b5a45-e2d7-4422-991f-9971864e7122 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:41566bc1-1517-4bfa-9ba6-5a7532326290 phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b3bcb4fb-ace0-4868-929c-dc7b1038b93c phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f52265e-8883-4daa-8d14-83d0a375c8ec phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e1d568cc-be02-4224-8af6-6d3fb5f51793 phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e4117a3d-32a3-4246-b95d-a0d0a72841af phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f2f7d25-265a-43cd-9b9a-7df8c5d34c87 phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc9f8918-42e5-4488-9f54-7235e87949ec phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7155aaca-34ca-43e5-8c43-9b573026d4c8 phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:75ee180c-f86e-46d1-a976-44eff5ca7ad0 phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fdd7c528-5e12-4868-9a03-4f17f5cc5b56 phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a0fff57-21cb-46ad-bf01-d1e34452edc5 phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:14ac4901-a7bb-42c8-9e67-56b5e3bef72d phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:dfd9ce9f-a61f-4f01-9f68-3f7dbecd3580 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f194b3d-6432-422d-8a78-613b595cae3b phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:49861e0c-dc4f-4557-9e97-0ac02483e9d7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:60a86390-cc7f-41c1-8c8b-1fdb034757a0 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3b356b3-687a-4e2c-a39a-530567aa67c0 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0007301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e56289ac-9736-4d36-865d-f6159cfc060a phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cf7d2466-6e87-4a2b-a564-4e43a3d74c3f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8258613e-1183-4eb9-b28f-96fc09106156 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:23e8cf3d-6595-422d-8381-5f85f3250728 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a46cc38d-0b1f-4a4e-ba61-2e45effe1b1e phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c01f6395-05ab-496b-93b7-d51286578cc4 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b011742e-d432-40e4-9828-7ceab2f3427b phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:b9e75962-c3a4-4682-8820-b7a3bad12b13 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7d15f1ed-4df5-443f-8113-393fc4a52ebb phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6bbff2eb-db56-4ad6-a231-f77428c377b5 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c7a78b8a-9fc4-4c67-b569-fb3d1a8e8790 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8af9caf8-7517-4ae4-8fe5-ca452f594154 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82697804-61e4-4629-87cd-fcb06e644b45 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca83e930-0e6e-4b1c-9fa5-2c3af76f36d2 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5b17929-7821-4427-9ae7-2ebceedeccde phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:86957e34-8bf6-44ff-8c3b-5b4c010a4ec0 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87cf36de-f86d-4d1f-b6d4-9c4d7b8844c9 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:493d6aab-8512-43db-97e1-e38f2b654027 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:799854eb-9877-4c57-965e-6774d9db2682 phenopacket.store:STXBP1.PMID_35190816_STX_30945278_Patient_DD18003965 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6588e5d2-4977-4660-8a75-48f7fe88332c phenopacket.store:STXBP1.PMID_35190816_STX_30945278_Patient_DD18003965 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80d40104-49bc-413c-8954-dbe2448b9988 phenopacket.store:STXBP1.PMID_35190816_STX_30945278_Patient_DD18003965 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:276aa456-4e6d-4f07-af86-51b63b2390a7 phenopacket.store:STXBP1.PMID_35190816_STX_30945278_Patient_DD18003965 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1e3e8a9a-1426-47e7-a3a4-477cc49caa96 phenopacket.store:STXBP1.PMID_35190816_STX_30945278_Patient_DD18003965 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2597efda-8973-448a-8bc5-2d5d4a420c79 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:63c34804-e968-42ab-a6b7-7b8ecda26c26 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f24f3fd4-01ef-4ff7-87fa-8a831981ffb0 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a85b7687-2d04-4fcc-874e-31c33ca0f8e2 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25bd3f93-68d4-481e-bd1e-e0aa1949b077 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03a93930-cb95-4233-80e8-72a146c9d192 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b994e279-1ebb-4952-9af7-5d75411c1f67 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3116fb39-dbdf-4c96-aa9c-1983fc9e35d9 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:93468870-6460-4997-b0ed-5ebde6d4b735 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:22cc7071-df2c-4d4c-8de2-31c9a8834908 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:856b4607-4e74-4ed5-8dad-6f919432e456 phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d65e0026-b226-4503-9d8b-d6a18ea571d5 phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1476c143-bc3d-4bac-a240-ab5b5a4d2ccd phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dddd43e5-1da1-497a-8e09-ce4bcb3b4b5e phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:adfadd46-7e87-4b73-911b-6b96409c349d phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3dfde177-1624-4651-8882-a5985ab5e1fb phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:75c1499d-c3fe-4c0a-8293-2497fa6358a1 phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:55cb73ac-2d7b-4f78-a776-4e7f804ae7b6 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b1032cd6-1933-4c01-8956-3ef054ce5dc4 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2924efc4-138f-4279-bd3c-c6f58b7789ff phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1f49f5de-dc3a-41f0-adef-617ace0f0f64 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d299487-c913-428b-a87e-614d2b936457 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:606510df-38a4-4fdb-83a0-bbf03c3208d7 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c900ee5d-5ce1-4dfc-8204-9f15d6e89d5c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:428d9941-6d25-4ef8-8d64-1bec391eaa4b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1ee33fc5-4a22-45a1-9ba0-0f03e77a437a phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fc056f69-54c0-466b-a2a9-34d317e6dab5 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:80bdddc8-5a67-4e80-9b22-76025a38bfe3 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ab7500c-2b27-4310-a43b-483048408d1b phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e74ca479-cadb-4366-b390-6bb6147db388 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c9fc4464-1976-4b33-8f34-284c227587ff phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:40f10596-a229-4ef9-8bad-05264aa24017 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0002345 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a65fa19c-290a-4419-a1b0-018353052256 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:20d99603-581c-454c-8110-56710b02b26f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f8f0a5bd-5de4-4d7c-a94b-e650d095b986 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:86d06cdf-053b-430f-bc94-af6a171eebfe phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fc7ded3a-3db4-4a5e-bca9-ee6387e7e8d0 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:28b45a0b-25a9-4cfd-a6cb-c516ed6267ed phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0abba25b-3354-4b00-b8d7-ee6d61aaf592 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4f8ae9b4-e6ed-40f6-8ccd-b4fe32828b98 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:516906df-c70f-40be-b607-e1540c465725 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae8a86fd-4d6e-49b1-8e54-94ba77862df0 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e78f0773-25d9-48d2-8242-da07d1a17ac1 phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:30f3213c-1721-4033-8d5d-78c102a0c57e phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8c96316e-504e-49cf-a969-f83e148c4d9f phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0002197 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13732cc2-c10a-4d50-a041-df87dcacff79 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b37b9585-ea99-4c09-9459-87017dee95a8 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08aa11f0-b5ba-4f4d-b617-8bb9d025a9ca phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6d813f96-929f-4727-bcf9-3e2e2a6add69 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0012758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c594a73-57fb-420e-8e5b-3903f5dea139 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d174b54e-4807-49a0-8baa-75a965f879ac phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a87fa20-e75f-4d15-ae42-ca41e7e5801a phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d2bc43cb-c75f-46f9-8824-b9af16510aa1 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:30f96e8f-b4a2-42e0-bcf9-72658dbe1b96 phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:64cb14e7-5dd1-44a2-9cc7-92acc3bbdd2b phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c36386bb-b27f-464a-8b2f-f796924c8852 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:84b189d0-518b-4fdc-a2be-f28b38169f04 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:45df0580-3cb2-469f-82f6-cf0b8fa69eed phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4c68d87-f269-4ea0-9b8b-8ff10949c57e phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8ad2c33e-751e-4271-96fd-da662f280a21 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7c48e581-0897-46ab-92c0-1932e363fe1c phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd2ce956-35d9-4e7b-b92e-d5e36434b3be phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d21914ad-4ace-47b3-a0a0-ef32aca9a637 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7289e59a-70b5-490c-9c8e-4d650ffd1f14 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0fded0fe-ec3c-45e9-a5e3-57bdda631d30 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f526a69-cdd3-4b49-b332-cdeebc8d64cf phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f723aae0-d18b-46ce-9876-a0e89ceeba41 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:39a6ae15-8c73-4ecd-8b0c-eb585558f09f phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:baf09228-fbe6-40de-9060-eadb9cb3d3a9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:94f91788-4ce4-481d-b7c4-192d6c80b570 phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:be36efb3-9331-4854-874b-88f99f66a8d5 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc1ebcaa-254e-43cf-9489-bc0277019d50 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:323ccba8-f706-4996-bd0b-c326829b625b phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:494bf3ad-da07-4acc-b465-ef082b30710b phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:895f89b2-b916-4341-9704-a09d94a7839e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7103bebc-f136-4b96-a918-19ac4e4ad654 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5994876d-708a-4b30-9608-a392b525011d phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a5779eea-0bc8-4578-bdc4-f67754567f0e phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:82db36f3-5767-447e-b7f7-899673dced61 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac1c9e37-27cd-4f66-9d1d-1181f4009e4d phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:08b78b68-2545-4d61-8d9f-41105a3c6e0c phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0012017 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:078ce30a-88d6-4eb1-97bb-4f8f00386425 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4db32a8-bc4c-4e97-91b7-80b127ff212f phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:be882d41-db0a-4101-b005-5a31dceb8452 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:159d4b9e-4565-4a76-9561-58b1d1add5d2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7427317d-72eb-4f36-8b3a-bd8aa1225071 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:66fc204b-daee-4556-9e5f-c8f7d46c9221 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5cfe26c-1d23-440e-8210-3baa895e0466 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8875ceff-60fb-400d-9197-e2af5620b1d7 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dd5cc969-04fc-4f18-a6e3-732bd3e15ae2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:1d3e38bc-3574-4d83-bd46-35dbbdf4db1a phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:474fceaa-4691-4ee4-94e4-24e800ef100e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d4f3260d-f1ed-4adb-b258-4008e86bf421 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca7eda66-0d39-4e45-ae19-a39e68ffb775 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:afda0a5d-12e0-4550-9bc8-12aff62899ac phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cb64e3f-3d41-4ead-84c2-1613e9ea3f75 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:eb89149e-9782-498f-8788-674bb8dbb88b phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0000338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c313e6e0-3ac9-4a7c-a2c7-48c618957738 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ccac3f23-5f6e-4697-ba8d-c576fb17e748 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0000504 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7cb65906-b9db-414b-870e-0ab261c02b12 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:544bd083-5267-4360-9a19-42120f6cb34e phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c0eb5efe-6e44-4862-8eb7-d382ece40174 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:53922174-4047-440e-9377-51ef987c96a4 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a261e44-2211-476f-bc36-697ae29e1e0f phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0010877 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81f6f87e-8513-46fd-8242-763d7f8d40cb phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0011294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2ff8e0d1-a629-4f1f-857c-a746ad798343 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a0578b54-611e-45a6-90b8-7dce07ada470 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fdca9a25-9f65-4536-9472-7a1720ec4dec phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0003324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ce40dba-b814-4053-9177-5eb755fc6086 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:dc6c75a1-fc7c-466e-825f-f13f9e607999 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:68bdef06-6528-4dad-afac-802c8881ce42 phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:9251ddf2-e5f6-4621-bd26-74552eaecec9 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a742b08-451f-4754-ac25-5ef9858c0938 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e61a85bb-dd34-4748-9b3c-6eefd16a8f10 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:813b9a2a-356c-466e-b20b-0bccba378495 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32a258aa-cc1b-436b-853e-321097ba254f phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0011199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1ef2c2cd-33b8-41b2-aaac-4b83f822e35e phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0000297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a70d1602-6b80-4cc3-a61d-b413caaf2b4e phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:624a81a1-f2f2-47db-9faa-de0bf0a1d0c6 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:543d24cf-b8ef-4e26-95e0-22d2135ad8ab phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:155c7380-8ea3-4d13-b341-47d7ecbabd9b phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:01a0caaf-41ad-445f-b4fb-ca694f70294f phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:32e5fa61-67b7-492a-9fb1-24ea9200a331 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be4dae69-5e5c-4267-881c-ea01b1b34f3e phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:500a8afe-de53-40dc-a508-a1d36af3c736 phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:ab3b70d7-2a70-4654-8713-a446cfcbf45a phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_phenotype HP:0011210 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8d4c4771-a17e-41ee-b89a-3c7dd59d18d8 phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_phenotype HP:0002078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:19a65400-97b3-4269-86ba-39a6778da233 phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6938714b-3544-4011-8044-1e918131aeeb phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:edcd4634-a53a-4229-8415-90d9d93985e6 phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:02d05979-efea-4387-bae9-c9536242d2e4 phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8820cd74-a721-46ae-a8a1-808da5f52b6e phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:01600ca6-35d5-48ba-86c8-b646fb744e3b phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e0c309c1-ee05-42b0-894f-b82b29dfcd9d phenopacket.store:STXBP1.PMID_35190816_STX_G3_P39 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0fb7cd9b-81e6-42a5-9529-2889f4d0d401 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P39 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68f00bbe-d5c6-4d7c-a59b-588b5d25b035 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P39 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:87a895e0-5629-4829-a4b7-a6e2c74b1702 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P39 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8ac63ef4-35ca-4057-8a28-f3cc24fd3415 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P39 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:c6f3b66a-9032-4045-82c9-38d185e1de6b phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0025190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6942a153-e99a-4b8e-9ce5-2219d17d3e8c phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cfac8058-513e-4e52-aeb2-a941acd3ff40 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:50292933-7fc1-4e85-99b6-aca15d13c09f phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e4e539b-c2a8-4cf5-89fb-6f97d30697b2 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ac1017ea-a919-483c-95b4-84eb025bc44a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0011198 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:023da67e-ee1e-4a39-b857-f1aa74b8e177 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:13978b0a-f9d9-48a7-bb05-f00a7bf0609a phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bf237e47-f69d-4090-aebb-1218feeb4a21 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea36803b-ba05-4936-bda8-6a777c4247b0 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c133c696-fb22-4f14-85b1-e4cbb88214f5 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3791d9df-1a93-48cc-8a34-3f8d5537be89 phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:34d926a3-4393-4ae2-9f9b-48ab60335cdd phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e2900f99-9a0f-4fc0-8c6e-9840115dd937 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07ae2898-63fd-49b4-b84c-887fcfc00835 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3cfb7903-b8c9-4b68-bd2a-7f8ca09cce32 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0006813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9fa616d2-da23-4173-9a52-50d22f1e7504 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d305ca0c-6504-4c80-9161-e285cb4ecf89 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e8b7933-37ad-4471-bccd-e5e361088e0e phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c6e88124-3955-4d9e-958e-243e67b64cdb phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aae04347-b136-4023-8e7d-d3d206d8b1b5 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b21c5759-be72-48f8-8a92-4f1a8d1130ea phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:668540d2-073c-48ec-a0d9-9a6364b318a1 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ebf4c8ea-1cfe-4ecc-b529-ff4dd764c3a0 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9130bb78-47a4-4f50-8f22-e4c5b3935e35 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0007076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e021073e-ef59-41ea-bc2e-3dccaedee593 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c4325a7c-32c1-46ee-b8a6-92d2b52014e7 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:378d8370-e0f7-4cc2-9860-a00d5a050808 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b45f426e-2178-4d9f-bb9d-7434aba9eb12 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0ae62b58-bafa-4a27-a1f5-8d926f7edff9 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:be031c62-87c6-4f51-bee2-12fba25deda4 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d933fca-3c57-4879-916e-2ea1bddebb24 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_phenotype HP:0010847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:04375814-02a9-4e60-b601-ce4040f05644 phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0deb59a9-760c-4085-8f40-839bb0990b1e phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:48e9ff05-229b-49b9-ad05-fb6e4034d024 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a3954b7a-80e9-49af-8287-713093740ab0 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:135ba374-74f2-48df-9b0b-04ad0a0d3c79 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a23a2f9d-8792-4d87-a284-e429718cb664 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:03bd7df7-37b7-410b-8661-5e557443b159 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ae0c7050-cd1e-46ee-bfab-6faceda17ab9 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0006829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:16cb2674-bc68-4a7e-b2ad-9c109c2261f0 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6a6e8ee-ea57-4aab-8d33-ba6ebcb2e4df phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3819a70-614c-4953-a68f-9f67383ebd75 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8ac07ba5-f691-4bf9-8175-e3a099019ff4 phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:fcb1acfd-0cfc-4dc6-bdb7-7bee697a86c8 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:71884212-5136-470e-9d39-f63294812e44 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bcad3b13-f04c-44fb-8299-f7f7347b11f4 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0010850 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ddbde9e5-d00d-4497-b8f6-5a3b2dfef25a phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:770fd4ea-9986-40d5-998b-9d3e61170ee1 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9b2a361d-35f6-4cbe-b816-e127432385af phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:739ccf99-4fd5-41d2-91c4-eaa2c8e36c32 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55d7c852-cc54-4fc8-a102-23837f1323af phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:737c0f6d-7397-40a7-8114-5fec0f976a22 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7788a8b8-eef1-430b-88c2-4217abb88f71 phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:14a0b443-9f40-4c5d-846c-8e361a74be6c phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:038358c2-6fc1-4c06-90e7-5c203b946e2f phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:8e12a273-b6f6-4301-9b42-5e40fc9331de phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34a6e21e-352c-4d3a-a371-530944166e27 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab017cdb-96ab-42c0-af9b-b009a3aaff50 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:37cac7f7-865f-4d5d-926e-986b4495791e phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1dca5629-7927-4147-95ac-2fe5826de21b phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8a3889a1-6aa7-4622-ba6f-f8ef2349233c phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1c5434e5-a3df-4c35-b9d2-c06272274d2f phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:18d8fea0-6b22-431b-b649-e882179dc8b9 phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:14739bd3-c016-455d-a61d-4b3f7929918a phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:46d8b574-cc5f-4cdd-ad4a-bb806eaf47b4 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9a33b33e-8e16-490a-9289-61f9e6e62104 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cab18800-4535-4f0f-bee7-3f2880fcc210 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0002372 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bac6c37c-3e51-4418-a22c-146fd3df8711 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:308ab28f-449d-40d4-a0ad-2bebae01d41f phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0012001 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7e523aa9-21ab-4fc6-9794-e21a68446577 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca9d3e72-f861-48d6-bcb1-c5dae3f845a1 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8e4a40a5-9313-4229-bcda-ca6591a987e2 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7ab32834-ac41-465b-8bd7-f247de5e2f92 phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:34643769-6abe-4c43-bde2-b328f45f76fe phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3b5aa4bb-1ac4-4876-a5b0-62e0b10e606c phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:a9bd9e77-76fd-4f78-8622-a63b9460441c phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cc634962-e82c-4622-b3de-c6c9232f9a2b phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d92a3edb-aec5-416f-860e-43a8bec16cba phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0dc0a574-1e85-4905-80aa-f0752bb2512a phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4ba4fedd-18ec-4e77-807d-bc53f650e01e phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d6b3833b-2a2d-4edf-bbaa-a8cf191705e6 phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab1702bd-a272-438e-96be-f668dc690a55 phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f9ed7d3e-90a7-41e6-9f32-9518dde8ceb5 phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f04e30d3-b80c-4f8f-bb39-f7af1f5d06a2 phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:620a5e59-1ba6-44dd-958f-26f8b249643b phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:038fe2e9-8fc7-44ff-863d-e82ce70f2f00 phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:942576e6-f270-40ff-ba45-d3637f5f926c phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7ebf47f7-5721-473c-8293-4123df8ab386 phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:6464d815-dbb7-498b-ade7-9e956e775f16 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:55e596cf-3b37-4638-83e3-d4c8002e0798 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:47251a8a-3f9c-4e14-9bc0-8c4fabc49c69 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8698eeee-2d78-4c1e-96e1-cb6b38bc1fe8 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7abd4f00-e12d-4930-89b5-bebe2e28c4c2 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b3e969d9-173a-4b55-8d02-132b8e1d48bf phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0011344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f00d42b4-8d6f-47b8-b019-2207e205c009 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:06cd5faa-07f6-45e1-b3ca-7fc2e4e004f5 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2f51b270-599e-4978-946c-bb539e983113 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2b42ce34-a401-4357-b180-d15363000a67 phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ea7ffd2c-eec7-46ff-9347-aafe0f227cf9 phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cefed8fd-a0ee-4818-991a-02848f5b512f phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3a7c8ba1-8af1-496f-a9c9-25948cdbdb86 phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f18ced16-a194-41d1-9a6c-218e95048fd1 phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:18f212ed-90ac-43af-82a1-f48bd2bd7efb phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:2110b8f4-5b36-4895-885d-d74bf68398b7 phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3f1356b6-f8e2-40a0-9c2c-4d271e87aa25 phenopacket.store:STXBP1.PMID_35190816_STX_27864847_2138P biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:862724df-cba2-43d4-b15c-bab917ea95be phenopacket.store:STXBP1.PMID_35190816_STX_27864847_2138P biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:6d4db66b-7cdb-4a93-b78a-787391172511 phenopacket.store:STXBP1.PMID_35190816_STX_27864847_2138P biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:47146e30-cbce-4062-9e0c-545f6e418743 phenopacket.store:STXBP1.PMID_35190816_STX_27864847_2138P biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:51536d99-c7af-4c4a-8fa8-cee150aa1605 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b5c77603-f72c-4cbd-a3c4-4914e93239b0 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0011153 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ecfd1568-e5a3-4932-864e-84e310628ce0 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0002509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d9363948-5e1c-411c-ae8e-fefc0d48fe8c phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c265a9f9-5bea-4047-816e-e31a7dc91a1e phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:aeb06ac7-b635-4849-9a8d-3c5f5f6f16fc phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:484f3da4-c556-4163-91f7-42b77e7f9689 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2d11a04e-e0ea-4ee2-9ae5-d9aec676c690 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0012010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:0d40663b-3fbc-447f-bbb2-bbbc405b9c11 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48a2a590-3e46-46b3-aa45-07f1bae85b4d phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0012557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:421395ae-60a6-467e-be65-08e98f9779f6 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f6687910-2b10-4f6d-b4d4-2a2b492e2844 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8f662ba2-be04-47e9-952b-7422dea5061a phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0010843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:cd6c51ac-d6f3-4b1c-bfeb-54924fc31231 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e32d09ed-a994-4c55-8f48-8b8756e4a865 phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:07bbc201-c4f3-478f-b194-8c09415115fa phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:67fccf82-5c68-45db-b6e3-80aed312ea5d phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:3271d170-d0a3-4498-ad13-782b9b8e6a69 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4cc32d3c-8d2a-412f-aa26-9f3c9e752c08 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0011166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c177eba3-9220-478b-8490-a7c9a6ac8b9d phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a23ab1cc-244b-4542-8a9d-12aa8329ae44 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:218499b4-5596-4d11-b3d6-38f997ea1470 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0010845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:925c62fd-cf0f-4eb5-b49d-20f72a787a91 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:59bab508-2b87-4a45-ae1f-f5663559e65f phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4a7d67ac-9da6-4881-8a17-895edb4a5856 phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7946b526-6e95-45ad-b526-1496026c75ca phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:72dd8c29-4242-419b-9e16-42e06aa711bb phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a8c584e-772d-40b8-9e32-c931ba357871 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fbf4b51-d900-483b-abdc-33f601bbd207 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e67ee807-e4c0-431c-b179-838856ddbc6f phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2a235b02-d398-4028-bedb-d76f9c3e11a9 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c3ac4175-c80e-4617-935f-f0a618409a2c phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ab406cb6-6b21-44b1-b87f-d47681c90748 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:12382511-72fb-4790-8b95-dce541d51ed4 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a7aa6a2-8879-43ab-b78c-e05c6cdbecf8 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9e11d24a-6f75-44ec-b723-be5bcb62fb19 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:f3b353e7-03ff-4901-bd06-6ea047737e69 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:166b4f7b-c49b-4857-b7c6-bcda3e7f0026 phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:febf0582-59df-4083-8c5f-789ba4420dec phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0012736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d08e2913-cb11-4460-8c62-2ba173d2915a phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0031849 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:2331fee8-50c6-45e1-b3a7-8805f4fa511a phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f4331a51-aa72-4dc7-9dd7-38e40a216689 phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4bc0d051-5781-4e54-a87c-aa8fcdd676de phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bdf10779-999c-4fdb-9d28-e386d5871642 phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1bf09696-a6a8-4586-8e9d-dfdb3e7b74af phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:52b55096-2ee4-493b-a8da-4b284c3d3ca1 phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:e9312f9c-13d3-4a6a-b815-3452c22c76b8 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:3ffca2a5-9373-41a9-aaa6-ff60aacf12a9 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b1a1cd8-a59e-4a01-8d1f-3575fe69640e phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0011185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bda23a8f-c2d4-45cb-b2be-74b67bf5c18d phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81bcd3ee-40cd-4833-866c-d7b82f94fcdf phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9ec6af03-a28a-442d-8e17-65b4b1a91645 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e0ee1b12-5b56-4cb1-a076-7604fe0cb6c7 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002346 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:170e9987-92fc-4576-bbfb-ad34022eb839 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:40a6dcc1-1c2d-4ef5-b8f1-bab907028bbd phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e5f17c13-29d0-400a-97bf-fcf5657e5975 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:e35a472d-00c4-4242-be42-dcccc791e082 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7a38b137-46b6-493b-b254-dadf6601f700 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ffbae9b6-b99e-4d03-8d68-2cb816e922d0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:c5085fee-4fe3-4e37-9a85-1a55bc9e8656 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:74867dee-9e5c-4b29-b04c-55e18a036f90 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7f681511-929c-4651-ac4b-267cfa8b05c8 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:68e72fae-81f5-4bc2-b925-a7b5f62ee6a0 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5257d913-c6d7-40ec-8e6e-a9e45e7afbb9 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0006986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81b74968-a63c-47a5-b375-d268af498395 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9be99e53-27c4-4bc8-ae20-27859f24f7d9 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7a870371-37d5-4714-a675-6f5e9e10c702 phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:7597f8bf-59b0-4fb7-a4b5-37aa74767b2f phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0031951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:fb726db5-eac5-494f-b092-132a3f72f0d7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0002123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b4922a11-1597-4a53-b0bc-c736cba46c50 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:1842d950-e0e7-4654-beb5-9fcf6d515132 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:b9cbd178-e225-40de-b2a1-92ff20c374cc phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:450dd224-52d7-4400-95af-19bc3d8bd29c phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0010818 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:abd43a9d-ba1d-4636-b2ad-8fff25fe6d60 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:81dd7ef6-3c79-4b33-babc-aa7684c4b4fb phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4c3b0a3c-2200-4f0c-a83c-c8f5bdeb5f5d phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0001285 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:8b86cdf2-1c1b-4d67-8cb5-6075d3d60e9c phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0002463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:7fecf5ed-03d4-4b00-85a8-22de174eda00 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f731672a-3fe7-448d-a838-f145ea52701e phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:48bd96e6-87ed-4eee-9abe-e040be6f08b7 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0011203 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:25b31126-9bdd-476a-ab94-5ee0a9dce6ea phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:daf8a9a3-5125-4a20-aac5-29e5e162ebe1 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:775daa7e-584b-4561-9d17-87032694293d phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a1485ab0-f704-4c21-9fb2-4f1a874c4717 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:4bf3e2b8-b1d9-40dc-ab9d-eea0db407392 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:053ef2ef-9b3c-4e6e-850e-fc96d689ce15 phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:0079153f-3eee-4527-a0d9-63e90facdd39 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:44391070-0de8-4c3c-9ba2-4fd6632096eb phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:d7a9a406-ee91-4a45-8cfd-6680ce0f0e9f phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:a06b50b1-7088-493b-8699-3deac1a8f211 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0008947 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:63893501-a13b-4518-b10a-bd1057479bca phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0006913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:11dcf888-097c-4f49-978c-52433dd3c963 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0012171 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:06ffd1ed-d313-4109-b7b8-8bd8540f546e phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5fbf7244-b5d6-497a-9e0f-e483242d0413 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:f8d67ced-cf0b-4fd6-b909-f74ae7ac71c3 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:173a8142-36d0-47da-a13e-acbc12bcb835 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0100660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5b841c46-16ea-4557-8cca-9b586dffbcd6 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:5d03c204-492d-4e06-90f8-2ecdd3e37741 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:9ebd4ce4-1afe-486c-bdfd-7b7e7c8e9759 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0002540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:ca8b65b8-d6ba-415d-b3e8-fa9da1a5953a phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:822cb3e6-1bbb-4a89-bf38-ca26c46b8931 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35190816 uuid:bfc0dfc8-99e4-4374-98d9-8ed6af99803a phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_disease OMIM:612164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:45f61dda-475f-4a0c-8beb-cb0fd68fe256 phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:has_gene HGNC:11444 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35190816 uuid:bb2d1602-2248-4c96-a737-e3bc3b6b452d phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:04b595d1-d72d-4158-a0d8-4eb877656ab0 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:01d42eb7-702f-430b-ab79-87b5edaf85cd phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:11c93da5-08e6-4c9e-91cd-1169feee17fc phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b353c875-5ed2-42fe-b17d-c5a826d34990 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:dbc13523-a462-4f73-a036-2cb82b69831c phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:ba2f580a-6cb9-463e-8944-6c08298e19e8 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:9b82d5df-b8bf-4823-acac-ab3937100087 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:4391b155-5c3d-4ce6-9da9-1a36a5d9f81d phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:55c5c838-07c0-449f-8b0c-3a92b97a554b phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:80877d35-99c3-4dba-ba16-2a6e4527ae18 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:45b6d9ab-086a-4029-b479-a3dc3f554c26 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:9108ed47-354f-45a9-be67-541a4f0f5bc9 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8e608dae-5b06-4bc5-b2d8-6eed05ffc9ec phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:2ff1a2cb-3d62-4be2-83f2-50654ed98b03 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:95d78c3e-dc29-4eda-8f9d-23eb49b5b641 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8c55b23a-4a4c-4ae2-8d0e-fe228839df5b phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:991c4096-eff1-4420-9e42-2169032dd13b phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y11M infores:phenopacket-store PMID:36303223 uuid:7132f280-8c48-4da6-9e1d-8b9f4272d440 phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:e9b6d3a1-ca6c-46ca-a7d5-574add75bdc0 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f0e415b0-7a37-479b-b4b2-b314db751a12 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:31e50f46-27b9-4e8f-9ef8-258fa3d05e94 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:e28c0357-6bc2-4aa8-96d0-b37edd2a0e82 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:5459d04d-b437-4d4b-97cf-4b391a86f5bc phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c9138e14-5a57-4ad1-b015-16a53169c50b phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1f766b78-b4cd-46e2-8bd9-9eb3424faccd phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:808de2bd-9d46-4af0-89d9-f5cbc9ab75a4 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:b3a98e7c-292e-44a8-8b83-c03199930d59 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:344186f3-204d-46a8-bc43-c34cae4d8aba phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:211dbcac-ce17-4b2f-9e5c-e064da8c24aa phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:513fc2c7-06a7-4f2f-bc57-d1e569fee854 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:5b4cc57e-55ca-4679-829a-19422c9d430f phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:8303cfd8-a9af-43f0-87aa-21fbbf3c3904 phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:4eefbc43-0d6c-44e2-af62-4065a39855e5 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:61c5427e-5b62-4011-905e-a1f5d202446e phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:ef48e25d-75d5-462c-8d47-87b858ff095a phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:921241c5-a140-4ff0-861d-40b73c9f9729 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2fde6546-3bed-4b34-b1fb-ceaf4ed004b5 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f8ab958b-4dc3-4091-a16c-de3e789036f6 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b2fa1778-f151-4c11-acbd-da6e54268643 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:09734e6c-e132-4d84-b262-a373b36b84eb phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8f8a785e-acf0-4626-a623-7c8421f28312 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:1ca5bef1-22b5-440e-ab84-3f5ca1188638 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:41babcde-776d-4d6d-a588-1acb67ac5ca7 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:5c893513-2d60-412d-a2f9-3abc05a4f991 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:85b464e6-6491-4599-a445-6acb7944657e phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:bb8bce88-e59e-40e8-a1af-a836a0499d7a phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:0ff36f0f-a28b-4473-9858-f0ee6c49beff phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:fc033206-7531-4aca-a234-c5fb965b0153 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:41e45753-fb61-4154-b944-9adab5c9b80f phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:18b14f28-2d62-4a98-890e-f81b298f269b phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:ae0a5ee7-0e9b-44f0-a091-d9179fada4fa phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:36303223 uuid:f2bb3143-7010-4d6c-817a-ff9b3ed288c6 phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:4b3e3a23-6fee-4dc6-8495-812ec30f673b phenopacket.store:SUOX.PMID_36303223_Proband_9_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:04b53df3-6245-4dc7-a3f6-1c2e8e10b861 phenopacket.store:SUOX.PMID_36303223_Proband_9_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:b0ad25f3-20dd-4359-8ac7-a2d8a3df2562 phenopacket.store:SUOX.PMID_36303223_Proband_9_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:c58eb334-7878-4bed-b9b4-5161f52039c2 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:7bdbb025-c9f5-427e-a928-54b1fd747f70 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:252aca87-8b2c-4215-95e4-04b58e836f6c phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:0c4514be-50ce-462f-9964-ecc6558960e4 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:a2a012f1-1bd4-4ea3-a9b7-6b7ebf7aa558 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b448993a-ca48-4ecc-b6f0-b917bca3b6c8 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:70a54d8a-9c71-47b2-b53d-fc0607b7550a phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1322c74b-813f-47a9-8aa3-b6eba2f84b0a phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:278ebff4-767f-414a-a3ca-870b25e53ff4 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:d8bd56ee-8b7c-46ed-98fb-07fecab7f310 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:25f71d69-48b4-4e86-9aaa-30dfef790826 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:09700274-a8ab-4260-92b1-1cb7a3a4d383 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P15D infores:phenopacket-store PMID:36303223 uuid:66af7ffa-54df-4e53-8f9f-a548f91adbc5 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:5e0a4e3b-d46f-4714-837b-0beb6fab471e phenopacket.store:SUOX.PMID_36303223_Proband_13_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:32e3d843-ab46-4131-bc2b-cec6a2281676 phenopacket.store:SUOX.PMID_36303223_Proband_13_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:5258a769-3d4c-4e72-a983-f9a8305da05b phenopacket.store:SUOX.PMID_36303223_Proband_13_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:7cdf2330-fd20-4ed7-b208-994885c1960e phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:0159e64f-34d8-40c8-b313-57191e9df2f4 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:9c87b757-64a2-42a7-8997-9b7c11b79bf2 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0034745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1d7171a0-3b1d-4796-95d3-768b15bdcfda phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:ad2150cc-5e96-4df0-a6cc-c72432cfde25 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:eeb40763-5329-4192-b564-3a6b148ce599 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:36d6f307-c11d-4fc3-9d73-bdac03e28f8f phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8d4b8772-ac61-4263-88b8-dce0d751446a phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:30ed8347-a5eb-4932-a996-901f89b90071 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:178a0bf4-9bc5-4c3f-ad49-55a35c0cef0b phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:0796dd04-5334-4931-9972-270a422a9373 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:14cda34d-5a19-43cd-9eb5-83e83058f73b phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:a391e6bf-e67c-4770-9a1c-15767f08aabe phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0500181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:53452ed0-cfbf-436a-8663-6657af806b94 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:40e9600d-54eb-4b87-a28b-4a1b1a2892e3 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36303223 uuid:68bdd1a2-db04-4a35-b8b5-0fbc3cbd0287 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:9120441a-b693-4c38-93be-36bcf0dababe phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:903500ef-abbf-4f8d-b924-5ef3ae9d2481 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b437555a-890d-4ba8-a7f9-3fe22f95ce08 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:979972c2-4188-4e12-a4a5-506ad0b75028 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1bc3240a-08f2-4b7b-993e-b8ea42b1a902 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:03dfbe5d-0e7c-4450-81f2-480cc8777641 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:922ea5d0-88ca-48ae-b4f3-61e2d2843d68 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:eaacc56d-dde8-4d84-a12a-b7cb1c2938fe phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0500181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:9d968eac-c876-400b-8a8c-f956cf50146d phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b7163a05-f88a-472f-ad9e-695bc99a4ad6 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:112ca5a1-5665-4362-9c54-b3e87ca30786 phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:fa7a21b4-b3df-41af-a17e-e1597e257b7c phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:cfdcad47-a941-4945-bcd4-45e2d630443b phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:4081157a-a428-4fa1-948b-777bc0d026ef phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:6a1761c4-be59-4651-b2b9-7c7df12b8bb9 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f87aa2a3-18e9-43af-9208-cc8680601b3b phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:3ba5e739-4f52-421b-9776-29cb01088ef3 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:eb2d396a-ebba-43a8-be4f-fbc2f0e015c4 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b98b453e-54cc-40e0-a255-1078211fd0a0 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:0644f62c-6fa8-4bc8-ad3a-1f9ad674f85e phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:abf46b69-e4e3-48bd-8ebe-47c23d3ae4cd phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e80734b0-12a6-4df3-bb53-bdfc3308d222 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e613e897-b113-4ffa-807e-fc8c9799f014 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:b4815733-6802-4688-9db1-b455ce6acd74 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:2dfefb8e-51c2-40d5-8dce-e52b94589687 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:656097a7-92da-48e0-9724-8ca817fb38c5 phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36303223 uuid:34ab82b8-112e-429a-8475-4461ad6ca65c phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:2287bf85-7619-4f3f-b85f-1ab649737568 phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2b769f6b-8413-4124-9690-0eaa99d8fa02 phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:2c4c13c6-9712-4650-a896-1ed98dae22ef phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:5e053467-3a33-4253-b3a8-ec387b199305 phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:42870623-b9aa-47e9-bbeb-46c5095c683a phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:7a0b4a7d-d0f0-433c-93cd-81bbc89c505d phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:cd00cfc3-deec-485e-88f6-420ecb07f0c9 phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:891ccc74-e01c-40ff-ac13-1c44e8a7b4ac phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:f24fcdcb-5c40-46fe-9613-25f74d8150dd phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:e018219c-ee17-438f-93d7-b680250b340c phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:d9ea9c38-15f4-4811-be9f-324a2abadac4 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:90c1d3d0-3acd-4841-869c-c0f1932c5286 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:55b77843-8fa8-4ef2-80f6-725d9fb3669a phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:957688b2-f576-4ebb-aca9-dc8c5d733737 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:2c86cfb6-e5cd-45a7-873a-59e6588e0065 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:aefb6288-1030-47fc-9ef2-1c2230874c85 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e7ec213f-abfd-4a6e-aa63-75ba2b985245 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:529a0f82-92c3-4dff-bcd8-93dd7c1056a3 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:27840958-4e05-46fd-832e-3b0045d12b42 phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:01dfb344-8f73-42a7-b36a-574e93ebbafa phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:431ac72f-6df8-46c9-8711-b01ceb8aba1e phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:bd2fda96-df20-4a24-b2e3-a7e5b76821cf phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:5682f816-66d1-4db0-bf8f-f72ca945e61b phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:eabdc7db-b36e-4640-854c-fd1b91073d73 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c492bbf0-0fa4-4302-a227-1bf3caf7f0c1 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1334598b-6cd6-446e-907c-751913194eef phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:bd66c8b1-c2e2-4b52-a500-6e736ad9a571 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d81a962d-826d-4c18-b192-02ffa5e0a573 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:15ca7d15-28f6-4ad9-addb-6f2385395f44 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:594faa76-1447-4c61-848f-6208e59c53f8 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:a2cf2eab-f5ac-40c1-b75e-c0ea0d8b08ee phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:f684e6fb-9d69-4bc2-874c-91a3223334b6 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:42f90cdb-3780-42f2-bfa5-855ed21ffb76 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y4M infores:phenopacket-store PMID:36303223 uuid:f77966b0-a7d4-4114-bcd8-e19214c29b85 phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:b31cc1a5-89db-45c6-8d9c-1279221f8d7f phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:6ddb07de-c9ff-485a-a22c-30ed188e1d64 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:fbadd8eb-f81c-4b15-80a2-d44816ab91d3 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:a6e0d170-2ab1-4847-8ffa-482055189a48 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:5dd0adef-b56e-4a02-b2a7-78c0834123a2 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1d4ad42e-14b3-4477-9f19-146a896f9c50 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2803e0c8-0230-49bc-87ea-127ad2d74aa8 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e50bb207-388a-45d5-881f-3515adba22dd phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:4ace851f-5bcd-425d-8f5c-44fe602f7146 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:765327d0-1f5d-4759-b0ee-443185927310 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:9836831d-2d37-4cb8-b04b-6141b12fca0a phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:5a4caa24-c4c4-416b-b41f-d26ab1621322 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:182a3f42-3586-47ac-acaf-3b74c5ffed81 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36303223 uuid:3766c7d7-cf8e-4ad9-b55e-4c3502f56038 phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:e0384547-a9d8-4d49-a67a-0091d6693239 phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:92000636-d5ca-45b5-b528-a94658107aa1 phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:a59b9347-02cf-46df-9668-b077b25dd2d2 phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2aa0359a-04c1-437a-862a-7e8ad3543a26 phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:41cc7076-bb96-453c-b324-e746212eea9f phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:0a0fbf76-ce2e-460f-8e7c-bdc8c0874b70 phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:4546173a-ae99-4db5-a991-59d974ab701a phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:58909862-e5f2-4617-a9d0-8099ef6372c1 phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d4828809-1aff-470f-8a38-fb21de16bbdc phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:f2709791-e0a8-4fb2-8af9-b228978f5dbf phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:38f2c140-e8f7-4fa5-a1f5-4d9ef3b6f15f phenopacket.store:SUOX.PMID_36303223_Proband_11_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:82ec4228-6df5-418f-a8f5-bbe7128e5514 phenopacket.store:SUOX.PMID_36303223_Proband_11_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:1110f51f-6bf9-4b50-8d24-5913896e5ce7 phenopacket.store:SUOX.PMID_36303223_Proband_11_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:d0cf1e8b-6c5c-4f18-8f84-0900735b9edd phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:fd2d3d0a-320d-41ed-9f5e-1d5bff6caab8 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:bf29dcdd-b613-4622-87b1-1e58460390cc phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:9d5c462e-696d-4f88-97d4-38d9661f5609 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:bc27d81a-4ffd-40bb-b18d-40d667f9faad phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:22566369-5fa2-428a-a10f-01cfba549bb7 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:fef1e206-b53f-4a4d-b254-c44dca62e237 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:62c4ee02-184d-4e50-9c41-3cba3d8969f9 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e95f37c7-c582-4003-99c9-624e5c9aeff6 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:00e149c0-6532-4680-9581-ed0a505ffba0 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:421e9a21-220c-456e-bbed-e788b48e7fb4 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P24D infores:phenopacket-store PMID:36303223 uuid:bc87051f-e856-43f4-8617-292f456ddc19 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:9efd82ee-aa47-4b73-b983-1d079a69cdb5 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:faf49019-7a79-4811-9a18-b5580224e22a phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f5a3d106-3511-4265-8ca5-6040e169c7a9 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8effc286-f3fd-4787-89e1-f111a46c1254 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c4e82937-017a-4984-8770-dc333d4740f4 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1aa09103-b89c-47a9-a42b-51a9d379d191 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:f4363eca-1e1f-4c06-ac78-2b796ac3224b phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:3140b6d8-2054-4722-b18a-37bc6c23e09e phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:af03459f-12ab-43d7-a29e-25db278d5571 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:6c48179a-b096-44d6-99c3-b84ce025b420 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:4718f80a-7b86-4ed3-89e0-cff34fb22cb8 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:31547d67-c22a-4960-8568-1ff7e2d05af0 phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:36303223 uuid:4e1690c9-b246-43a4-b1c8-c567c745062c phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:712b2fcc-ed21-45ac-94bd-941aa4487f25 phenopacket.store:SUOX.PMID_36303223_Proband_7_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:35f631f1-8d0f-4760-81cf-04f33049f9b6 phenopacket.store:SUOX.PMID_36303223_Proband_7_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:d7c710d8-ac39-49f9-ad4a-79411ba184cf phenopacket.store:SUOX.PMID_36303223_Proband_7_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:e2e85b4e-a1fd-4bc9-be78-d8c0c3143799 phenopacket.store:SUOX.PMID_36303223_Proband_4_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:33671921-97de-494a-b07a-417a5c3a8cb9 phenopacket.store:SUOX.PMID_36303223_Proband_4_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:c8622317-f9f8-4109-92e3-5f8b684a3fc5 phenopacket.store:SUOX.PMID_36303223_Proband_4_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:8c6aa9e6-c2ae-49de-a4fb-d24770fbb90f phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:220acfb6-b6d5-484f-ab69-eb17d1f2eaaf phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:96da936d-d0ed-46f2-9be0-c3d3751655a1 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8f7bb4d1-49f6-4ad5-bf8e-c4a9cc2f175f phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:a82202b1-cc32-4d9d-afc0-09ca2ff61ada phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:7c832c0b-0b8c-4ecd-bc55-b2395fec1321 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1cd81796-0435-44c0-baca-1d0fd1d9011a phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:5d236821-d2a9-4c82-b5aa-8a28ba09e6a7 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f8121da8-5070-488c-8524-dbbd45a62398 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:b3bca15f-6b15-486f-af3b-8ecb83322fcd phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:72cc8323-c27f-458d-911e-03b74c6efa11 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:fe89b6bd-a7db-468c-b2c7-a22595430f41 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:1fab2bb9-47f8-4cd6-a104-cab710053c03 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:4f281cfa-1510-457c-9f9b-1a1aaa5ec6d0 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:36303223 uuid:fc1f590b-aee9-41b7-9cda-025fb00934d9 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:e51b19ff-0a83-4ffa-972c-891467bdc371 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c36eaf67-c36a-4743-a645-3fc2d31f4834 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:798d92cc-7315-4845-b92d-6fadd07dd9f6 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:9c1e2c00-bf12-45d2-9a62-1af3a54497f2 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:7bc80050-e559-4009-8a4f-f33ba5592e42 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:542b9472-d4ea-490b-b106-9c5e23289893 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:3707b941-79db-4c0f-9ec9-0d9ff792ce6d phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1a036dce-24cb-42f1-9665-b2d9c5f21249 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:87e88aa5-c3e9-4827-88a2-51256813d7a8 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:762d9a71-4f99-4cc4-b6bc-5a864d0831eb phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:cd569e99-d5a9-4c24-a452-3a761cf4311b phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:260ee5b4-35df-4131-888a-4db547ddaf7a phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:f7ecfdd6-94a5-4505-b4a3-8758c1d50e94 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:36303223 uuid:57b079b6-8ff9-469d-94b8-e25c79cee639 phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:7c94a37d-23c2-479b-85e9-2f9243d22590 phenopacket.store:SUOX.PMID_36303223_Proband_8_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:ea3b546c-e9ef-4bae-b4d7-7b842e9a21e2 phenopacket.store:SUOX.PMID_36303223_Proband_8_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:8ca295a8-e553-4dbb-8b2b-6e807ac94176 phenopacket.store:SUOX.PMID_36303223_Proband_8_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:bfc3f0a8-17d5-48cd-a69a-daa4b4233bc9 phenopacket.store:SUOX.PMID_36303223_Proband_5_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:e5a1434e-cf7e-4042-87f5-5c979727fc21 phenopacket.store:SUOX.PMID_36303223_Proband_5_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:3d6986a1-3e56-454b-9841-5b756f431b85 phenopacket.store:SUOX.PMID_36303223_Proband_5_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:758b9f55-a85f-4e5c-acc6-df057199d619 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c9a13c66-2e22-41f6-8a43-293469047a49 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:bd08b7ac-26ca-4d8a-8d78-403f6876fe39 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8671a8be-b188-4833-8439-a5836f0c18aa phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8f2ceedc-7ad7-402a-8a27-0e1f30dcf432 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:b0580481-4c47-4a26-b500-1e87762ac482 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:ed824ca2-ae43-49a2-b1bd-d0ba1ea582e4 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:fe2cf77e-118f-44c6-8ee7-efd0ddb95d94 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:7a47f1a8-a46b-4872-a90d-0c95d5814e9c phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:1a54fefe-1f93-40c6-a076-8c48338dcafc phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:0d0caa69-a142-4765-b711-1e57ffdf2d25 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:44a301b1-ee0e-4f0b-9798-9577c1480dd4 phenopacket.store:SUOX.PMID_36303223_Proband_10_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:a28e90d2-5bf9-41ad-8eaa-006474b9ea00 phenopacket.store:SUOX.PMID_36303223_Proband_10_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:e2111d5c-401b-4be5-8e7f-d8f7153e1380 phenopacket.store:SUOX.PMID_36303223_Proband_10_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:f158d025-21aa-4916-a84d-98256c2331f2 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:779060f2-326d-467b-8b2c-bfdf5b5f5261 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b8c179b9-83b2-4244-97de-8913d1218710 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:45f04afe-74f4-4a36-b475-a8c0616ad84d phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:3f0409dc-093b-4bc1-81d4-d83cb509a0f8 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:319ea8ae-dfa1-4101-9f88-3d0d37fd218e phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:1a7ece08-e21a-4f9b-9158-bcdadb6f9b6f phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:56618bd6-6234-49f6-9ddc-58c4316699d6 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:25b8a768-fb97-4e93-a93b-ba1a62169561 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:3bc21e1b-9670-4943-8962-bf3c96f2226f phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:2141e284-2b6e-420a-985e-e595f9c27021 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:3ada585c-7a91-45d1-b60c-51bcaf42082e phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:526348a8-377b-4d7b-9597-03ec64ed5f83 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P15D infores:phenopacket-store PMID:36303223 uuid:1575b310-6780-430c-8067-e0696766d6d7 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:cfc29a55-4d90-4463-8552-2b7c15396406 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f8af2c82-dc90-4fbf-bbe8-3dd27d18289b phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:037e3974-216a-41eb-bbe4-fc04004a7f67 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8f641dd4-afe3-449b-a980-2373a11a3868 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0034745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:26dba84f-a988-4cf1-a058-6852532678bf phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b8aaf013-79ae-4eec-a528-551a29487dd7 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b2a288d4-0590-4f5c-852f-31e62730bca3 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:17741403-cedf-491d-8232-88457040de23 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d4b6d166-402f-4196-b007-0af335955580 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:7f76dce3-a739-4ee5-a185-3511f9fe3637 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:68c8db98-9850-48b6-b637-482a6a1c02d7 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:291caa8c-d099-43b1-822e-aa6b729bb2de phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:31b1f51f-f7ee-4d47-b43e-46aeaa74912e phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:270439bb-e109-4efc-9499-8113c5c10e8c phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:37e5498e-bac2-476c-831b-738574fbcacd phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:36303223 uuid:74d5f732-b0ed-412e-ad85-f86a6fe0a315 phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:b43eaad5-e50e-4c26-9b2b-ddf1ea6e8558 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:40f5cf69-8ee9-4e05-8b4a-5ff906a727e3 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1213659e-e32a-4066-9d10-9649b82727ed phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:d4279fc5-2d68-4f36-82b5-1b51ba2b823b phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:9aafb2c9-b1aa-45f3-86a6-150e3c7c0c44 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:8760f15a-95be-43a0-8e55-dbee8828db37 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:feaa73c6-11e4-478e-90ec-bc7e41214f4b phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0003166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2fe3096d-be8b-4b06-9026-cd9ddedb828e phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:71eb73f8-f5a3-48b7-a28c-7405dc497775 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e1822d20-4b52-4b0e-b319-f61e73086813 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:a521e5d1-f9d2-4edc-a906-45e2dcc04d08 phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:aa9d8c70-cc8f-4cf3-8c4c-7b49f461dcde phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P21D infores:phenopacket-store PMID:36303223 uuid:08e97f65-d507-42b9-be61-69421e32f89e phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:442c364b-7fb5-4930-8466-5e2f45694f08 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c027724c-6cf0-4c83-a859-60b76b467ea7 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c8f23c60-2214-4d3b-a0d9-fe0d07cfc293 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:d36ab1ca-6232-4b7d-b464-86fa1ee4726e phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:5b17fffa-6123-4120-a108-6c6ac238843b phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:419a42f7-ca15-4636-afee-43abb0e4c4c2 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:edc28054-f5c9-4971-a941-c4e79e800d50 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:62a39031-31d8-4c11-95e0-81ae3552b450 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2821e344-62a0-4fea-ac2e-b3463656f336 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b86a987a-07d2-434b-9ca6-8a7cb7a97b8f phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:90deff48-7831-4b05-b670-e88c74d695af phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8e0cfbf7-c562-4e9d-b874-a407f1686b7f phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P1M9D infores:phenopacket-store PMID:36303223 uuid:da3cee5c-f7e4-4d3d-bbeb-fb4dd85b4820 phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:add21f47-606d-4a12-905b-d6c04c50be12 phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:dabbf949-420b-4099-b946-7000679a4de9 phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:7afb465d-b214-418a-9ffe-db4fb21e5e80 phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:00514c59-d280-497e-9e87-f97f41aec9a5 phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:adae5fa5-1439-488b-82f8-ae0abc38f5d7 phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d26d106d-614b-467c-875f-89139ccd439a phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:de7060d9-9835-461e-aa44-7232245190b8 phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P3D infores:phenopacket-store PMID:36303223 uuid:9b23ebad-2031-4550-bf01-b4bcaab6951e phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:f50280c6-7c05-49ac-b8c6-f6877ac483a3 phenopacket.store:SUOX.PMID_36303223_Proband_12_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f1326b24-5e91-49bd-a289-c72ff873ada9 phenopacket.store:SUOX.PMID_36303223_Proband_12_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:2a67bd82-314e-4ea3-b8fc-30deebe8678b phenopacket.store:SUOX.PMID_36303223_Proband_12_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:84cc41fb-502a-4dfb-8154-721e2e87dd45 phenopacket.store:SUOX.PMID_36303223_Proband_6_from_PMID_12112661 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:047f6cde-8234-4536-8424-cddb927d74a6 phenopacket.store:SUOX.PMID_36303223_Proband_6_from_PMID_12112661 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:3e09d010-2eba-4350-ab50-808707e06db0 phenopacket.store:SUOX.PMID_36303223_Proband_6_from_PMID_12112661 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:6365b817-2336-4dd7-a22a-02d2d003d5d3 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:410aff9a-1ca3-4fd0-b138-b1bfa3be7379 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:2411eeed-195d-4227-8134-a467e4bc0a6f phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f0f58721-eb07-49bc-952b-289a78b4ee34 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0500152 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:3f39a25a-2608-40f1-9e52-580907b07889 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:41bdc04e-f055-4484-825c-66c0c39a9a2e phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:3dcb9182-1cbc-43c6-a818-fdd73ec6e69c phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:43055026-425e-4415-b54d-39b985bb57ff phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:7f425d27-5171-49f5-a732-4950bf5354b5 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d79b6a24-c462-4d93-a424-3421cb5b1e46 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:42d13fd2-7236-426f-b20f-dc4c8a160acf phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d6d5359f-8ebe-4c00-aa84-8e85b6bda433 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8bfddaf8-56d3-43fa-b602-a4a14601441f phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P6D infores:phenopacket-store PMID:36303223 uuid:8340b9ca-f25a-4c44-8f14-7e7141690940 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:2ed12bd8-4ed5-439d-b564-7e90e23fbef2 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:50e59ca4-a402-4cb5-b040-37614f914950 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0020222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:b8c6521a-bbf4-4502-beb0-888ecc433626 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:f74040cb-b68f-43cf-bbf4-c0081c678e6e phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:99055914-51e7-4bd5-af60-13abf12956c4 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:3b2ef5fc-4c56-4eee-bb8c-f8461e63ec00 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:6a144d21-18a8-4eb9-9072-56fa2f70b0af phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:541eed19-b4d8-447e-843e-64264ca15416 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:d99451a4-7010-4a74-a09f-83a222c6ae2d phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8bae526c-4711-4f92-ba71-0024752bdc33 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:e893f273-8b6c-4635-b944-0dbb8066e541 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:3019927e-1458-40bc-b47f-c8f9939560a5 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:f945cef4-ed47-4151-b971-01c998e6d9ec phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0002160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:72f61d5b-a883-416f-81c6-ed6d9fe1de1b phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:7939d4e9-e1d8-4403-98a9-b59a9baa4c70 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:1b8b387a-80a1-48e8-a986-daadb33dc60a phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation P4Y2M infores:phenopacket-store PMID:36303223 uuid:ae2bb2df-3477-40ed-a70f-606a076cea80 phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:b5e1b8d9-561f-4b17-8a01-168486c70f93 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:c42610a7-320a-4abb-b354-7c913671cbdd phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:45fa2734-1c03-4fe9-80e2-9acf5ac87b83 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:a5497e51-2619-4ee0-9422-8e1b088f0ffc phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0002071 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:ffbd04f5-e4e4-4779-bbad-c324bb60107e phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0032350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36303223 uuid:1de0ad01-14e7-4782-81f9-e4945255e0f9 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:8a9f2370-3261-4c75-a40d-2703bbb06a5d phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:28cfe94a-9b71-4233-b165-ec5279d82395 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:54931c7e-0f7b-4ea3-9bf6-e7a337b12eda phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:17f226b5-4cb2-4bf4-93aa-cb7a60721fb8 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0003537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:6388c675-6ca0-4191-902e-15c560edfd40 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0010934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:724c2497-e2f8-468f-90da-43e97f49bbe5 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0011814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:5e52735a-a227-4cc4-a069-51f107d2c248 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0003149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:a18ae8b5-95c1-4f00-a4b5-19b4159c6520 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36303223 uuid:6e0c5499-c26f-41e8-bfa0-d02ee350c5e7 phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_disease OMIM:272300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:dac2a765-6f65-45f8-b7bd-9349c7d1418a phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:has_gene HGNC:11460 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36303223 uuid:d2407754-9c0e-4e8a-9605-a68e152846c7 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37985816 uuid:f7cc541b-d0a2-4c3e-b078-8ef97a813305 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37985816 uuid:b341b317-eb89-4ac1-829a-e00cf4a7fb39 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37985816 uuid:b2951503-9da8-42e3-acae-37452f428727 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37985816 uuid:93461fc4-d6d3-4c15-8032-ccaa205cc1ae phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M10D infores:phenopacket-store PMID:37985816 uuid:ea5f7b3b-7c85-4e59-b70b-2c64664d2dcb phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:37985816 uuid:ad67563a-fd78-49b7-9b9a-d5c9817664c5 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:37985816 uuid:8d92eff1-3731-4d32-8668-7590bf324dac phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M14D infores:phenopacket-store PMID:37985816 uuid:3d917538-9ce6-44b5-b2bd-810af427b0dd phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:37985816 uuid:ed83902e-09b4-4a35-8df7-269defcfc56a phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:37985816 uuid:6b80a9c8-4927-4e79-9ebf-fecb457aa986 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37985816 uuid:d26507a5-f22d-4de9-a771-3ce8ff445a59 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37985816 uuid:4f6e06d3-60f7-43bb-9eac-0de25169aacc phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:37985816 uuid:2b1e3c9c-87c8-4d41-b325-a97b80d7a765 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37985816 uuid:1b71d705-c0f6-450b-8d69-b4c1ea65fbb5 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37985816 uuid:a20a1fe2-6003-442d-8016-a545aac32c64 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y9M infores:phenopacket-store PMID:37985816 uuid:646f4ba5-5684-480c-889b-a980b9e01fe7 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37985816 uuid:65b5bd7e-a275-44b1-b83b-8c6d6516715c phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37985816 uuid:904a868c-ba32-4a61-97e4-d885e24956b5 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37985816 uuid:1d32350f-61c5-4f57-b3f4-4b9b33a65284 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37985816 uuid:14771c78-f4e1-4d57-abd6-add374f69dad phenopacket.store:SV2A.PMID_37985816_proband biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37985816 uuid:386a5500-98a8-4c9c-b8d2-0d8858b2a1f3 phenopacket.store:SV2A.PMID_37985816_proband biolink:has_disease OMIM:620772 biolink:CaseToDiseaseAssociation manual_agent observation P1M10D infores:phenopacket-store PMID:37985816 uuid:ccaf7dc3-178f-41e5-9dbe-e0453230d79b phenopacket.store:SV2A.PMID_37985816_proband biolink:has_gene HGNC:20566 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37985816 uuid:af4c9286-cd52-4932-8c4d-b8b1e15da7ae phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:26002053 uuid:54ec5947-8bc0-4eca-9aab-c62c4573dbe5 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:26002053 uuid:d57dfa19-dbe3-4dc7-bc76-17cffce8f5d5 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:26002053 uuid:f0f1b889-d146-4cf9-83de-0ff8ea239a50 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:26002053 uuid:3fb47045-033a-4498-8a08-e28c01e81af3 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0025373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:26002053 uuid:2349041b-f25e-431a-b38f-92bbf0365a9c phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0002179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:26002053 uuid:96f21fa0-f550-44cc-b7c0-f31bd1622b65 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26002053 uuid:2226427c-e011-48d3-ab4d-265935884358 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26002053 uuid:04b00fa8-1119-47a2-a35b-b59c30a76117 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0012708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26002053 uuid:aebcd4e9-8f4c-4ee6-acde-56b5460cfee1 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:26002053 uuid:0ecef8e4-af45-4ecc-95ac-c59bd210833e phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26002053 uuid:0fc2a025-c882-41d5-bd21-bda0232e3454 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26002053 uuid:641183d7-d925-41a9-9866-25ba7a9c38cf phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26002053 uuid:afd8edef-9322-4355-9e9d-c5359817787c phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26002053 uuid:b6fcaac3-4449-4cdd-a71f-766dddca72a4 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26002053 uuid:06b5cef1-5249-4899-85d3-1983cecbea15 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:70c5287a-5187-45ca-8586-4fc6a03ebeae phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:dda6bed2-9231-4ae1-adeb-42c6e444b6f4 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:696c6360-c433-40e4-9bab-232dde1bdd75 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:bbb43d47-d03b-4445-a0cd-80b1d9292461 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:e0aeb20c-d520-4d31-80a3-4b6281fb304b phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:2e4c6a0c-3f10-46ac-b38e-d335e7925f35 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:4198699b-017c-4181-b7ad-159ccca1621a phenopacket.store:SV2A.PMID_26002053_proband biolink:has_phenotype HP:0010851 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26002053 uuid:2d265e47-205b-48ac-9452-9c217189a081 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_disease OMIM:620772 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:26002053 uuid:45bb7596-d8e5-4412-9de9-275c2d6edcf2 phenopacket.store:SV2A.PMID_26002053_proband biolink:has_gene HGNC:20566 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26002053 uuid:6856b901-cd75-42bb-888a-f5c2c5581646 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:32303603 uuid:8b1f3bc8-2aa9-415e-a8c3-dd05cd44a3a1 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:32303603 uuid:06f73d7b-eaaa-40e5-bd07-b5b5ff9408f2 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:8d20d5e0-2e6f-48eb-ac0d-90d8107d6da8 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0011969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:a9500111-5f15-4973-b8a4-4b4685ea5149 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:fb5d770e-f082-4449-bd88-04bd10ed81ae phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:bf915920-ec00-4cd9-b0ff-dba0646caf63 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0033085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:313b809f-2aa6-4426-a1cf-b83db53097d6 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_phenotype HP:0000876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32303603 uuid:cef89b89-35cd-4957-aadd-a6d76830e70f phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_disease OMIM:620840 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:32303603 uuid:a2d80628-215d-4410-9dd3-15b818f4dad7 phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:has_gene HGNC:21537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32303603 uuid:a20a5a7c-9241-4ab4-8968-5f35e81c34cd phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0000876 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:32303603 uuid:03e78b90-3332-4066-9ae7-a62ff5d6d537 phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0008222 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32303603 uuid:3ed79d52-ce61-48cb-8405-5e945d649082 phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0008232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:381833fc-8abb-485d-97be-af155a0f5b0b phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0031103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:32303603 uuid:a2858ee8-344c-4e18-beb4-0d4fef541f73 phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0000869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32303603 uuid:0564ac0d-8f3f-49df-bd39-7ff806a6aa35 phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0011969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32303603 uuid:84cff26e-cf58-4bb9-9671-8627618610bd phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0008214 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32303603 uuid:8a63cc30-68c3-4f80-b4c2-2401a341b2f1 phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_phenotype HP:0033085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32303603 uuid:8f726b09-97ff-4808-82b7-e8bed3d1462b phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_disease OMIM:620840 biolink:CaseToDiseaseAssociation manual_agent observation P26Y infores:phenopacket-store PMID:32303603 uuid:8698c686-c3a0-43c1-be3d-e59fcb9ae283 phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:has_gene HGNC:21537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32303603 uuid:79dde8cb-e771-49b2-a545-4f22d2d031d6 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e31b3e26-df4e-4c63-9f7e-7b1c672202b1 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:f699f412-dac0-41c9-878f-fb223b36279f phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:befd62c6-420d-45fe-8432-55d631f86287 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:4605ae7b-37cb-46d9-b2a3-ad650538300b phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:24190eea-b525-4275-af8a-047e97094f85 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0007598 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2c5e1730-1c63-4432-aa28-050265bdbe66 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:28646fb1-4fb0-46f3-8a25-1dd766eef8da phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:7c8bc5a9-d409-4ec4-a2c0-3adf145b6efe phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0100962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8bbce72c-0cd3-4b83-9125-e114cb1e1789 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0010296 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:67c79453-4adc-4f32-a4ac-2f471028157f phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e60baae5-b600-4574-ac1f-1d4cc48b0181 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:c7b7b8b7-274b-4693-97c7-00efbc299268 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:f53e8833-b3fe-49c5-a4d4-fb33ad78d60c phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:66f582b2-9886-411f-8403-3f586d69c560 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ccedcd22-cd5e-4912-9eab-16b439601e8a phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2114eee3-5d66-4ada-80b5-a4bbb1679f36 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2926bb5a-66f8-4b5c-9711-759b9ad18918 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:3e724fda-6d03-49fb-9616-35f0b99d5ae5 phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:498370a5-c654-4fdf-a712-65fb117e030e phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:c4c798f8-4da2-43ca-a0c9-8eeea8e56134 phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:9bea8b69-e106-40f3-a31e-5caa3f496b66 phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:d1bd4838-6f63-4d25-801d-1ac72ac23fef phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:88b7a5bd-9c0e-4be0-8115-c96862d27e38 phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:6c57a60f-8809-42c5-a8c5-21d3a3bc1ebc phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:fabeb79c-66a8-4d8b-ab35-670bb0bff28b phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:3ccf2be9-1571-4ed2-b484-f65c568c6148 phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:a3ba49bd-0db2-4f91-b126-089e1f0f5404 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:64446357-3dc8-48a6-9802-b684658ba3ab phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:4d1cc0a4-c3c7-4492-b1d4-f4ef51a1769c phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:85d0f96e-d92a-4f92-916a-2d59d9b0af8c phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e2487491-cf26-42a3-ab0c-56bb87c96b97 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8256fa94-644e-4943-b712-c989448d4878 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:02c2e67b-07cf-42a8-94c1-4b21c4657639 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:7d34b162-8464-4df3-8b27-6f24248181fa phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a3030487-3ae6-4756-948d-9a45fdc34853 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8a5814ed-2def-4047-9968-da66d9b028b8 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_phenotype HP:0008872 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b8b8c612-b0f3-482c-8ae7-d78b3a78ceb7 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:1c712b40-dcc5-4674-a223-132d4e489fd5 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:24e5927e-c2a5-4117-82d1-c71567f27d60 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2c8fb150-f68c-408f-96b9-0a910d9c7b7d phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:856d5cc2-0617-4453-97cd-2fc1181ce680 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:7959c78c-b1e8-470d-8adc-16c2fd23b40b phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:29c15e9a-72ab-4c0c-a680-ee7daba34415 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:88ddc3d6-7c61-47c5-8ad3-ef6299a5c638 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:be5be15e-0c52-4451-af6b-0e98849f1bbc phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ebaff9f3-7cdb-4c49-b9de-c0f1e3884392 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0011856 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:bc37cb1f-ce7f-4d34-83e7-b6c8da72822f phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a0b8616d-8aa0-4f41-9c0f-b999c3dc65d1 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:990e572e-9f76-4e8e-bea3-6879c9f89b94 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:69348b1c-c0ee-4b93-83ff-53f7c0096ba6 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:162eef98-a0a6-4f07-b156-606a790dbf75 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000742 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a759fa6f-3b3c-4d9d-889f-e242845efee4 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:aaf9f739-fe46-495b-92a3-97558adfa458 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:82734ef2-510d-4cc4-af33-3b7e8e0ef762 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0100023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:25d5c627-b017-4338-b5bf-2c10051ae608 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0032521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:5b9f3ef5-416a-4f11-b740-8823a9745448 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:9c450614-8f11-4c26-b785-517403477bb6 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8d096e59-8a8f-410c-8bcc-9d7d2a19d8d4 phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:6646bad8-b2a2-4d58-b0cf-9c33eec195db phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:2284d5c9-6e6c-426a-8e13-510ff37ccd12 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0001371 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:434ee1cf-ce8b-4253-9fca-c05d810a4267 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ae9d7376-1ef9-462b-bb83-9515937cbeac phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:66191035-6695-4d92-96b1-316042d9e76c phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:35086050-22f3-4c8d-ba59-ea895229ed5a phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:5a4617ea-1d1c-49ca-9ea3-9d60685c2553 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:54e01d41-141f-4e11-947e-393ea7101132 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0004691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b3ab4927-8163-4fcd-9d2c-cfbd3b64fac4 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e5d9e6d8-60bd-4fc4-bfd1-f107abefb124 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e8b8bd14-f0b7-4ba2-b84b-ab2b249b334a phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a1829a13-c579-44b2-a6c0-389d90619310 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:4f345b71-85da-479e-8dec-9cd61ea38406 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:7ce8c02d-7aa0-4685-af1b-7e801609d25e phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:23f232f6-cb32-466c-a3ba-a6a20bd9d63e phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2e950567-9e67-4a69-b8a9-02a3d09f9127 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8fc9d141-bf52-44d1-8938-820654e3167f phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0006237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:aca2b2c5-95e8-456f-adb7-d6b7e7b7b467 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ac3329d2-cd04-40c7-8bc5-c2505e8f1382 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2d647658-321c-4f25-9066-5f5690b7f20e phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:3ed8e8ae-5300-435a-9c66-558abd6a6b36 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:565a37bb-2d11-41c3-b5d1-a0c2a33e4158 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a9d84cfe-b420-4ee4-90bb-6fcd7ece9211 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b32342c0-7cd4-4c07-856b-ee4392837128 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0001060 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a8862f53-7302-4c53-896c-1d3a29fb5990 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0100962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:504df71d-349c-41f6-a793-79aa908c7374 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:5f45259a-3313-4736-8594-26af8bf30bb6 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0012771 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a833af34-c4e2-4666-a984-005c3725e947 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:802a4151-38b2-4cec-b36e-680cd67e0bdd phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2d840617-5392-4907-b1da-b44b20276333 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:d4b88457-5e8e-46af-9b41-a67166fb4d98 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:c51ff4bf-6884-48a1-b7fc-c28ba4872540 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:07f7a2cb-b03d-4a7d-97c3-7ef3bbde3a38 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:4e88ce22-20df-43d2-b011-1778ba16df2b phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:68a5d053-a0ec-4995-9c5b-43e25ca8f194 phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:87cc49c6-d8ea-450b-a7fe-1102cb20b2f9 phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:237d169a-ec9f-4e87-a1db-f59958c6becf phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:bdc238ff-47e9-4bc3-adce-9802b225120e phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:88bb416c-4cb0-4b13-8e3d-12a6f1e0366c phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:4999a850-eaf1-44b9-abf9-25df22db77c2 phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e5d33813-6bdb-4e9f-8a58-2fc84aef5f71 phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:26bb7862-ca58-4924-86ab-5ee30e48bc1a phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ec0a4c2a-9275-42f1-b39c-93961c174226 phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:78be3009-83d1-4170-822a-c79ab002a706 phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:332e762c-1801-4d6e-8ee4-46e53a5252fc phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:af6346b2-c5bd-487f-b3c5-0a90247e89af phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:c9f13502-6912-4d74-a05b-ef1f3653e656 phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:86a4903d-573b-40e6-ad63-5ffaeacea610 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:f3278c71-8b9d-45df-bc99-3ccc8ab1469b phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ec93271e-d10a-459c-9aee-60977b0dcb3e phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:4ed76bcc-ca9c-4f8d-a614-8267a2daf7de phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:15e46660-43d1-4c66-8161-3c5b274e7d93 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:c63bdc9c-d25b-45c5-aa99-b37084ef47ed phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:99b97d5e-6642-4474-99a8-ed4371d17ca8 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:d619e77a-7cb8-4cf8-bb28-9e8f8b4e50aa phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:03c84d25-9af6-4754-a897-ece18240ea8e phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:626aee67-c5b0-46aa-aa58-e06f6e95e6cf phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:901ba104-ac85-438d-86f0-3b53b84d6e4e phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:c6b38423-10ef-4680-be1b-dad26b00e7d5 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:28c386f7-ad65-4026-bce8-e3d255fb01e2 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e87ddebb-3b75-4495-8aba-fb40534a617b phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:0d7e28b6-f7a5-490e-8d8f-fd69bad1b61f phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0006380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:d20726f4-bb3e-4da5-94d7-4bf7282d2050 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8d9e82dd-6b03-4b9c-84a9-c83b6a392400 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0002944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b88d7e8e-4fe7-46a5-878a-26cf25768d8c phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0034373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b365afe5-ba7e-4be8-abb4-4a9f6be18ee1 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:dab3a006-2b7f-438a-a6b0-9288ef011970 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:93cbddc2-881a-4c2f-b180-0bcad88a2537 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:7da442a4-ff20-4f55-8c90-a7c3d0fcee43 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:ea4fdaa1-c85f-42eb-b4c7-8038bc49edf3 phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:d43b5b74-a292-4d34-b0b7-012c881f8f15 phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:20a4b3c8-fd36-4145-a2ed-3b9eb579781b phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:5bd9312c-8b3f-4e02-8155-7a2ff832fe39 phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:642ff733-a17f-4528-b542-150aa0a1da38 phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:3ed6bdf1-9b4c-42fa-bd7a-b2070408304e phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:c2de0778-a392-4112-bed9-7cf879729ab2 phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33875846 uuid:96398c9e-1d07-4975-a1f3-9ca39a1e9267 phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33875846 uuid:7ec98684-34c4-43ec-89f7-2cc2dc7ddd6a phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:1b0aab90-d685-49e7-91ca-e97c7db00841 phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33875846 uuid:18b4bac1-cbad-4f3b-a7a0-0bfb234511a8 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:13addc84-f561-40b2-b7ed-196675583b86 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0100962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:9dd2b4a4-909f-4b22-b049-50d466b7cf91 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:53100750-b45c-4548-a0d7-a00b7cd0318e phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:8879ddd5-7647-41c8-8d8d-6bcab33e0b48 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:af070b92-aa2c-4dd3-a598-b69dd2d70c3f phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0002186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:395e7ee3-6f30-46d0-8b2f-9f5d7c8ce894 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:e2be883b-9477-4351-bced-f4a81d87995f phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:cddc1a59-9d76-46b8-8ffc-4bd53a282cc6 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a50c9adc-c089-400d-931f-7fc45d1e844e phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ee8f4359-a13f-45fd-a3bf-51ef9ee02aa5 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0011094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:2aeafa63-a73b-4ad2-859a-cb5a4aa9be5a phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:18864d1b-db22-445c-8eef-270eb4dc9997 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:24aef717-ad8d-4a9e-851f-fb28b7350b0c phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:87e7a5b3-aace-4418-9b16-a39209870f44 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:fa0d91f3-0c51-4d01-81bb-7339aec8b689 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0001863 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b3b04205-7717-4879-a538-6d4dde15e234 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:58410a82-3861-417b-a762-9f9549d6d450 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:3146346b-5f4a-443f-9602-b2495a9377c1 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0012412 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:773e0fa7-5278-4aa3-84dd-ffc7ed5e2491 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:a315e610-106a-4131-bd0a-06b759f1faf5 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:5aa40054-abfb-4d17-9b07-7e05d14a7b22 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:8f3588f0-2f41-489c-8b02-65b2e35c9d2a phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:ceb1a7fa-9cb7-470f-a3bd-0c5ccbb4028e phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0011225 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:45da962c-57df-46d9-9e21-a00ba9679dbe phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:6f26dff9-ed80-4e34-a011-c4b5cc3ee0fb phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:aaee44df-8c63-4ec2-a82a-e72677f98b9d phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:5e1b165f-2d86-45c9-9ebb-ff2acd467e1e phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:9550b7a4-4b22-4152-bacd-169dfc9f2539 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:1bf462ac-0d39-46b5-af24-73f6e710c5bb phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:bbc82baf-8e1c-46c5-85a3-e079a26913c9 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:f93e5ddc-e313-464f-89c5-5b1548e8c002 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:b142736e-285c-4874-8bba-31190442ee89 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:48dbd80f-609b-4447-a8d3-2e4cfcfc15e0 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:6c3608f0-6100-4cf1-beb1-35de1fa4cce2 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:506d3bb6-d798-41bc-9275-6e2eb20aa8f7 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:fb7368fa-2a41-4d01-bfd8-7f67a3d1aa46 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:c8d7f80e-5db1-47c5-ac40-88f86b8970c0 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35904126 uuid:0273d8a4-2e74-4704-8534-491e9c72ceb4 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35904126 uuid:121e0050-d07a-403f-a7ae-a05518549f6c phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_disease OMIM:620450 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:34b4d958-e4ea-44b6-9521-c02d874669c0 phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:has_gene HGNC:11537 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35904126 uuid:b8881b16-3e6a-4d6d-a2bd-9e386b0726a8 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:8ea82f7f-ab05-4ae4-885d-1c91b7e599b0 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:35321494 uuid:9641df33-2acc-41f0-8147-a797ddeb8b99 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:c1aacaf6-7c3b-4190-8958-d04c95085b67 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:332331db-6ad3-42b8-9586-5c09ffc1b010 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:4f766eb5-714b-4c32-96e8-73cf83694f6b phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:b572aef4-81c7-4322-a9b7-270eac3b4e6b phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:a0755d16-2832-4777-8b66-66d70151e0c8 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:1b0b91a8-0ad0-4117-9c52-d85adc950db7 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:625a7783-eb33-4666-9a41-e6c9f94b5b1b phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:c0b5f4e4-0edd-4f05-8907-07b28cb52a72 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0012120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:21cf696b-4260-4fac-90a6-4b3afc2a1e07 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:a9ab9235-18bc-43e6-aa95-e19a85f9ef64 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:3bc978d1-c430-4cb5-8ba4-557f3d1f1440 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_disease OMIM:620139 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35321494 uuid:2112fa88-53ae-4049-bd3d-0a88b5079ba1 phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:has_gene HGNC:25187 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35321494 uuid:9692f1f4-4287-41c6-a977-4426827e551f phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:f1f8daf6-eb38-49bd-8643-2d92c86eef76 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:554ce0ad-c4a7-40c4-8f39-20fc85f3fdc1 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0000590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:65062bd7-7acf-4458-ba91-919dbdebba10 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:3e307db8-d72e-465b-b19e-2cb9786a7fdd phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:b4e459c9-a0a6-4e74-926e-42831f2dad5c phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:d81021b6-f026-482a-9f7c-afdea5108886 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:f555a863-e4eb-46bc-9918-0accd971b512 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:1c05c061-e3b0-43f0-8e2f-45c50e5047d5 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:37a458b2-b504-4a32-a34f-5a75f2a31053 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:5d5dfd41-0ee6-4873-8770-afe4211155ed phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:90f6c6cd-1a8b-4183-be2d-7a292f8838d6 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:bb82e000-ffea-49a4-b420-d57df82c15b8 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:200d4fb2-e2f6-42b4-b700-ecc6dc592d59 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0012120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:92b50bd6-d7cc-4c70-957f-014b313ef603 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0003648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:61353725-1b50-4ccf-8e98-e1a87ae6987a phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0002919 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:3aaa25e3-50ff-4bf7-ba9f-95e532ad5fca phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:252195b5-c874-4ba5-ab51-f094f6a2e1b2 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:96ec79ea-fd8f-4309-88ad-2640d3438bfb phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:d4a007c2-edb4-4dd4-893e-b8e770e6cf06 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:80b9e508-3221-4eba-a175-7ed1f6acac93 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_disease OMIM:620139 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35321494 uuid:de4e2770-5a61-4bae-84a2-4ed741d68195 phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:has_gene HGNC:25187 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35321494 uuid:cafc4707-d696-4e18-9f92-84ab3e9ee712 phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:3829e57a-1a99-422f-a8fc-caea70b9bf9c phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:34762f6a-c7ed-4e6b-ab2f-42320c52d040 phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:35321494 uuid:3e329f61-6feb-4fcf-9b20-954181b9f5d3 phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:c8d07d8d-0332-4280-8574-54b3fa456fca phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:63a6fd7f-20a5-4389-9768-3583872a312b phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:aee74162-f80b-4a1c-9c54-3465ba6b90ae phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:66a86ce7-5e46-4e16-961d-63490f08d70b phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:0214b30c-da7e-4c57-83e2-e70a0141f95d phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35321494 uuid:ee89bd7f-469c-4e16-a045-f9d5f615a1e7 phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0000590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:369e619d-670e-44bb-aac8-23e765415819 phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:e758f090-8d4c-4e9b-b291-e68d7ffb493e phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:7f22f9d3-6f51-4a60-a635-88c285785e88 phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35321494 uuid:d4cf0719-63e5-4fce-a6f7-327b4cddc2ee phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_disease OMIM:620139 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35321494 uuid:88968f6d-0c79-4ede-ab02-2967c7c177fb phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:has_gene HGNC:25187 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35321494 uuid:a0a5fc17-9ab4-433a-b4e8-55ffbe421d3a phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:b5c1a956-1817-4c8f-85ad-c8805e3a87fd phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c463a1d4-b175-4d26-976f-9685a85f26c0 phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:783f0853-6dc2-4188-bffa-99701ad297f4 phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:1a09e49f-ec1b-43ca-b595-91e2e1c60211 phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:15cab081-5a7f-49ec-ac6b-840080078cab phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:6000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:d147f688-a75e-493e-9653-96cd980ac5ce phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:049a3b60-d241-4dfd-8206-47638fd0ace0 phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:95e0f67a-449a-47a5-b03b-a21b9edcb07a phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:bc88fd52-4d29-425e-823f-9c451af4f85b phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:9e2a9789-7b37-46ad-9b8e-9cc8a9bb6734 phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26805781 uuid:a422bf17-6f41-4e37-a947-431d6f0e84e4 phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:adca1950-b725-4a9a-b4bd-0f0d23a33aa4 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:7eeaa6c5-f60a-4ef1-b30a-852fcf1efd96 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:d9f51379-1899-4ebd-8ad4-20eef3587484 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c2af8782-6ec7-4323-9835-731370727763 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:4b3ebcd2-50b4-4e3a-a377-0c87c45fc53b phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:088656ac-69a2-4c91-bab9-d2da08eda905 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:cc34c3d2-b49a-48cf-a7d6-31baf51e3a1a phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:2a1c52cc-e402-46a9-85c4-fdea81cb3a29 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:caa6207e-ae7f-402f-be25-0a3f42333821 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:08fa4c0d-88ae-4833-98e0-15d3edbef863 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:779d7f6f-71cc-4868-9792-ced58abd52ba phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:6000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:2275e835-be54-49e7-9571-d95a66b2d827 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:1ffc437b-ef02-494d-8523-c9886e1ee617 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:bad7a45e-0d45-4f30-a2c5-7ea50e8f9edc phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:e844e05a-6e49-438c-b24b-4579ae0b1cdc phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26805781 uuid:09f346dc-817b-4361-881c-524a273810b7 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:a997aae8-ceb7-44c4-95e1-61c4541a6f19 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:26805782 uuid:216d966e-96cf-447a-911b-b22a95eedb6a phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:26805782 uuid:28fa00d0-53c1-4a94-b07e-b7097ec0a608 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26805782 uuid:7b7c487f-2391-43ef-97d0-63f8050dc710 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:26805782 uuid:b6e1dcd4-261f-479b-8b5f-dec9ceedd4a4 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:26805782 uuid:6f01f97c-e6c1-4288-9eb1-4debd1f6a109 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:26805782 uuid:6cfb3e1d-d452-415c-8595-d2ea692b27d4 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:26805782 uuid:a8bcfabd-3e4d-4a4a-99e5-38f21911954c phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:26805782 uuid:e9f813d0-49cd-49d8-a9ff-0ce444a1ec5b phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805782 uuid:74646079-d9f3-4019-8b1b-5b287593c0db phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805782 uuid:ebc85e7c-80fb-4b9b-bbbd-79dfad4313ba phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:26805782 uuid:3675daf8-d7cd-42f2-9764-abc16a053bf5 phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805782 uuid:030d4d3b-62b4-48de-90b6-271692a751fd phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:ba96f584-1bce-484d-8596-f5e98ac882fe phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:51571231-1715-44ad-a392-fc1119e703f2 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:b9909046-589b-4328-bfd9-6edbc71867ee phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:6f0881f4-8a17-47a9-9bde-b189b628c5c2 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:1d3e3cd9-9180-4402-8b49-683a8f8c217a phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:cfa20b18-4765-4896-991a-8bf9f2d4ebbc phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:ab3a2736-796e-4ef6-8b88-3cf08ce2484e phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:604a4606-8c52-42a4-b4d7-00af42ef14c7 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:8b98a436-9675-4e57-a099-4dae304daa21 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:6b76553f-4534-4d3e-8eaa-15577c30d268 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:2a9298fd-76bd-446c-a65a-ecfa0cd6d741 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:cfd28aeb-4635-471d-8a5b-c2c353cd27a7 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:f7397ba4-121d-440b-9c85-be0504882ae9 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:26805781 uuid:58705c3c-a791-48b6-b0d0-4da15faa6ba8 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:fdd70cdf-a10d-4331-af75-af5acd94e554 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:8006fc1f-fdbf-4261-9486-37b9e606ece8 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:3eb7fb51-537d-4119-9399-05ea7b9a1967 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:3db1836d-7eb2-406d-a257-2f88bcc322b7 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:8136e22e-1823-4b21-b122-404cc13486f5 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:d8bb41fa-637b-40d2-88f7-74a883a379b4 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:df9c4faa-fa6f-4f1d-83b9-d0d5aafce6a6 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:cc168d72-ceb3-406a-8971-a934bc33be63 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:4ff3e57a-8212-41ba-9d15-bc6e1ff055ba phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:b2be2cc2-c2ed-451d-8e79-4d05eda5b5d6 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:cf724abc-0d37-43dc-aa19-c73a802ee3a0 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:5f8104d3-de9f-4647-9a0d-cfca0f465627 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:e1b0f9dd-149f-4218-9b85-c7eb7c1b7a4c phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:3fba2d8f-d97f-429c-a1a2-4ffbb4179ae2 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:26805781 uuid:0835a607-49ea-4e52-b79d-42607b225037 phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:f2292401-4f12-4cae-a1d1-9b8a118e439e phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:60562e0f-785c-411b-86db-11079da11deb phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:165d858e-9dec-492e-9aa7-454f5df1f463 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:a735f97a-d662-4cb0-8586-545da31803b7 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:79bdd7a4-d63a-421a-893e-189d7e59268a phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:b70e1bf8-355f-4bca-9b9c-964d4b962ef9 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:516b87f0-8e94-4fb4-9c8e-85352979c832 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:bce009cc-2e22-4a85-b0c0-55ec801b8667 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0002913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:77679c31-297e-49e6-b923-999a225876a7 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:26805781 uuid:56688f00-88fb-40bb-b8bf-8c1f26ec9724 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:55fbe8c2-ac24-4b43-85ae-190fd7134f12 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:35d02f18-e037-48e3-8b04-acd0906b2901 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:71ae29cc-cb4d-4368-833a-055ff09162ed phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c2e7e80b-b264-4e16-abcf-60b4c8fc361e phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c1f8ee92-23ed-4d4f-b102-b23733811c9b phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:04195246-4ea5-4253-8372-019e2eacb9de phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:7a47b292-1e92-47fe-a939-3528cef92a21 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:866a65d4-db8c-4e1c-8a13-d78d08120193 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:303fdf61-509e-48f6-98ab-f28521193636 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:1b1a3d18-e0e2-4855-a4d3-bd14003025a3 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:aee982a1-be7a-4bc8-ab03-e735c3512c2f phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:53f3872a-c017-44ef-a164-d9347ce7911e phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_phenotype HP:6000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:8f6a1637-a42b-4a1a-a71b-569824424776 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:26805781 uuid:2f94f017-2163-453f-b977-b223494b2743 phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:2e16460f-e85c-43d4-bbed-f876725df4b4 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:46694d83-339d-47d1-9a5c-6f0144967a72 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:ce877c36-695c-4f15-a919-ba709214ff49 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:37efb1e8-e30b-466f-9b69-e05631561b3d phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:e9edb428-441a-48ae-94c7-f5e28d995df9 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c6676ab1-0bd0-4696-84f4-dab614b7312e phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:2b8894ef-aad5-411c-85b7-0559854f3892 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:28ee5411-c921-4b0c-ac28-f4cc83f6b586 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:1024bcbf-6558-49d3-afe6-d737a41f9dfe phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:d0aeb6fd-f833-4899-a747-c8b032459adc phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:8a164046-6955-4a61-a655-e6658ddb36f1 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:49df56c6-3c83-4a8b-95e6-c21ca3557635 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:70b6de04-fc7d-4b6f-8109-41c791b25b18 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:66dac7a0-7de0-48f3-bd06-9f7917a8f092 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:26805781 uuid:311dbfe9-176d-440a-9f59-db63190a4917 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:949b0697-01c4-41f6-91fc-e4836ba69e2f phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:d6bea440-34e7-48ba-bb3c-34efaa7c0784 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:ed0cf06c-2f82-4554-9fee-fc15000e7501 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:ee7b7d07-e85d-4200-b1ba-b408df6ac928 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:fa3b580e-ad20-47ab-9006-16b54b03083a phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:82a635fb-311c-459e-a9fe-793c4b075c94 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:0d4d4c56-b31c-49d2-b9b0-e9c5e49de304 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:e2d52fa3-f189-4fd0-a125-b363d3802eb1 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:a621d602-f104-4717-a72b-d8688515fe63 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:7958015d-1877-418c-b3c5-b7414f528227 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0002913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:4ed75b11-aeb5-4305-b13e-54db6ace870d phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:6000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y7M infores:phenopacket-store PMID:26805782 uuid:ec8e58a4-deeb-43c1-b27e-f0dde3a3f1bb phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:26805782 uuid:0e70664e-8df5-4e46-8dc7-2c770336b050 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:26805782 uuid:b4ce6aa8-3db0-4203-9ffc-1849d715f079 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y10M infores:phenopacket-store PMID:26805782 uuid:13d64301-9aae-4eac-8457-9406e7cd7793 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805782 uuid:74c3e3a0-b071-4a17-9d78-506789d87d79 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P2Y7M infores:phenopacket-store PMID:26805782 uuid:a91057ab-4ce6-417b-8ae7-a63cf1826723 phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805782 uuid:b6dd50ab-5014-48b1-b8ef-659cea487913 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:26805782 uuid:e7b5067f-0471-4bff-950e-ff231f362c69 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:0001259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:26805782 uuid:0dbef12a-3f95-4af7-bc43-a371a869d381 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:26805782 uuid:248b12f2-f542-4661-9538-477cdae39134 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:26805782 uuid:962c9a16-5077-4b17-bafd-1e2a8f7e98db phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:0002061 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:26805782 uuid:791850f8-e35f-4abe-9332-662e891c3a17 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:26805782 uuid:e6692b2a-410d-493a-878a-da175010cec8 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_phenotype HP:6000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y6M infores:phenopacket-store PMID:26805782 uuid:52b5e045-f0c9-496d-aac8-02796e2c86ca phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:26805782 uuid:9e754ae3-85f5-4c07-af65-c7119861a6b8 phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805782 uuid:383b99c3-8048-4e79-9752-1318daba49d6 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:b4188e92-8600-4efc-b634-2e71068b347f phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:be793dc9-02d9-44e6-9abe-82aebbc65760 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:51334061-66af-4e99-8ee1-62851241b587 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:d0d848da-ef71-4918-8961-db33a66ae21f phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:ca65452b-1650-44cb-a815-4a2c27afc15b phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:5a1f6a3b-6d79-4cd0-bb0b-e37a685b8c06 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:efb21e25-4c79-4363-bf49-dac46eb8d6e5 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:ca6bf922-b7a9-490c-91a2-e9afa6a3a150 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:0a21ca78-e858-4803-873d-bca8396b7c79 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:bfbd88db-1535-4c05-bb48-0f5affe8d395 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:bac6c8c3-e214-4ce5-bf62-a55f4212e78f phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:37fc4c4d-6389-46e6-ac45-d482ca56fab3 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:5bf140e8-dce8-4816-a39c-759118461378 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:715bff23-31e9-4087-80de-95f227a3310f phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:6d9d8679-9b27-4c95-9c40-1c6037b7e1f1 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:26805781 uuid:2b601715-39e9-4e2d-9324-1275eeff9590 phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:6ab7b8f7-aa14-4651-81de-f7745e1bde42 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c5093450-b1b9-4abb-bd3a-14aa0fd91c6c phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:fdae9abd-27dd-4108-a2b8-1cf91df9a12c phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:71535cc2-6fe0-44a3-91ee-d27751ace085 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c7d8b9bf-eb12-4c6c-9f9f-55d07dd4456d phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:65d3dd88-6b03-4438-83c3-bbbb6c181d09 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:2daed9e9-7e61-4e81-bd1d-f678d4d5dacb phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:fc25ebfe-3da9-4ac7-83ad-d166af113f90 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:8f49cb13-8cba-4c2f-a94a-d91e2f6c4307 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:50bf9729-0f55-45e4-bbfe-0ad66c3ef419 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:2b7be38f-0b16-4860-802b-561fdd34cc5c phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:fb57e4e2-5c11-4e81-b0c6-52d4f922b624 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:6368e560-d3d5-4fe4-b692-3b770aafba29 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:9553ebda-00ae-4902-a1db-d1c434fa74ff phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:bf867744-63d0-41f8-9e5e-e1dae142207c phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P7Y infores:phenopacket-store PMID:26805781 uuid:995104cf-bd1b-4745-8b4c-58205bbe76e2 phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:787357fd-281d-4021-9d02-04559d04921c phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:26805781 uuid:07d26c7f-9832-4146-9bce-fc56ed6d0929 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:26805781 uuid:14557762-1b07-4ea0-b34a-8babaea99633 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:26805781 uuid:3489ccc2-cb45-4296-9a79-4194f9dd436a phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:9e27df17-8cf6-4e56-b2f4-dc0bedcca735 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:85ba87b8-eea2-4d34-99ff-42816fe025ce phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:634083f5-f6d1-4c62-aa05-839ff3b783f6 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:073e7fca-28a9-45bb-b0c6-9a5d049edc44 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:1e545f65-eb7e-49c1-b69b-5504fcc29ef0 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:037eb5b7-340f-4db3-b08a-8dc71bdce789 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:e450f987-fe16-4297-9213-72822aee8b2a phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:618cca27-3026-4e26-9dfa-7a229bc1c7da phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:72d5aad1-9137-4116-abde-d46e34df3076 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:11d63734-eb2c-4d12-aa93-b82406f57e6d phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:62168367-1827-4005-8f57-36ddb7b8b240 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:c9ddbfa0-42a8-49a1-b3c7-e937396b3755 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:699ee54e-b360-4622-81e9-2f3befa30392 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:2c89b188-4340-4b48-a666-5f1c914a59fb phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:7046b377-9df3-4e0d-8445-152e6836cf85 phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P5M infores:phenopacket-store PMID:26805781 uuid:ec1f1c2a-57e5-4385-b90a-adba967dc14a phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:56fe7403-f8d5-4220-a026-3ee5d2119b11 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26805781 uuid:13b3cde5-b6af-49ad-b2c3-1312f5592b41 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26805781 uuid:2c7dcf87-c9bc-4a02-93b7-586c46113152 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26805781 uuid:03080392-9528-47fe-973b-618f2182e36c phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26805781 uuid:72e18d6c-1bca-48f6-9aa8-77b9e4fa4b0d phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0012544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26805781 uuid:02b9c994-9270-4af3-ad1b-b97f07a27fa3 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:26805781 uuid:ecaa2fd0-26ed-4d61-aac1-8d947dc3ce9b phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26805781 uuid:a7edf84d-ea45-4bb8-b7b4-4dfb81bc7611 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0002307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:26805781 uuid:76afb6a5-e80d-4747-8b34-af3a16721e42 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:6000476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:26805781 uuid:f8280d2a-fea4-4b81-bc8d-61396ac75c81 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:c5968dbb-8584-46c0-b59c-805193f7b0e1 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:33cd63b8-aa07-4338-94b5-a9b3daf41f38 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:dcfe04f2-ac5a-447f-ab88-0fccb526e1e0 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:d6ee7311-a6d3-46f2-a3b7-19f64c94aa0b phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:d6b16f37-36bf-467d-a0cb-74bfd2269fed phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:19f3bc02-8443-4f18-8dc0-c76e722627ce phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:f2ad72b5-80ec-4a37-a097-64b79ed51ac1 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:b682a596-cd06-4322-a9cf-173727893492 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:ff951c07-36a5-43b9-9bca-4263c5f4bdc3 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:4ba17942-5901-4ba8-a699-55ddcd6c5486 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:e3848a3f-79c2-401c-945e-513495efff36 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:9cc40f8a-e5e0-439f-900b-32e9cab827eb phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:71c49b7c-95c1-4569-b4f2-f474e4d65642 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:c1b006c7-148b-4f7b-9f70-6e46bacdd23a phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P6M infores:phenopacket-store PMID:26805781 uuid:c7b6e759-2b4a-4b12-ac88-93b28c4a09d9 phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:ba344e91-4228-42f8-bff6-a4aea15588c7 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:642271cc-7aef-4bb6-b996-a7d90bc8c306 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:6757bc92-8038-42ad-9c9c-c87630470bba phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:ac9ee3ec-fca9-47ff-9f0d-40d3bb4f44f6 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:771806d5-5fbb-4d0a-b2b6-5a1e9c19fdbe phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:812f2c14-7da8-4c77-910b-3bdfb005905e phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:f6bae6b5-7efc-4a0c-a724-f09a742f22c1 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:ec30c53e-f986-468a-8b50-0295211f58e8 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:a0edca62-0574-49e0-9cbb-6293c71101a8 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:3a52a5bd-9bcc-47a2-8405-9b5e8deb507c phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:ad648b2d-43a0-48aa-8aa1-e8f853feba4f phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:f3c1ec16-a696-438c-9ed3-200eb4e75532 phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:9c9f1ee0-37bb-44fe-81c4-cb32fef815be phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P3M14D infores:phenopacket-store PMID:26805781 uuid:24da9249-74c8-42d3-98fb-33aca785eb7f phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:ce408deb-8556-4d34-b719-e898d8a28f25 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0002169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26805781 uuid:12fde119-232a-48fd-8575-1448b5ddfa12 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26805781 uuid:45d75fc9-9e4b-46f6-8836-04c7e7daebd5 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:26805781 uuid:97eee35c-c3f1-4d16-b1b2-6e877648c766 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:9252d1de-ba97-4e4e-ba6c-b06bdf86ab12 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:3bdf42b7-b884-4329-9526-4ed663364a0b phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:57181196-541c-4e75-a87c-806459cff269 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:da0e9f44-618e-4c2c-b35b-e782dca8db8d phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0005184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:fc4a838f-ca0f-4b19-b6bd-99eab8d5e639 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0003201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26805781 uuid:23deb329-0354-4149-b8e9-7bbb69fcb567 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:4f268af1-5e1f-4f04-bfa5-e8df04735778 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:29a30a65-ef1c-4eb4-b2a9-7a477622760b phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0003128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:2ad6aabc-a282-4725-8956-a451ceee6e35 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:32d24605-be89-4076-896e-2ada743ab095 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:be769c56-ae49-4937-9245-950a717e12df phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:e151c354-d1a0-4604-9105-b71dcb95c54f phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_phenotype HP:0006682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26805781 uuid:b6a21e84-f0f7-442e-870e-57dd622cf0e3 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_disease OMIM:616878 biolink:CaseToDiseaseAssociation manual_agent observation P8Y infores:phenopacket-store PMID:26805781 uuid:164dd2f4-de6e-4285-bc37-9abe040ffad1 phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:has_gene HGNC:25439 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26805781 uuid:f98bc338-6a9d-4548-b777-7de9f445df92 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7517574 uuid:9c553737-6da0-4d45-aea2-ed2b6c8d53b3 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_phenotype HP:0004469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:7517574 uuid:0afe1757-aad6-4f04-b466-cec11f5e7b46 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_phenotype HP:0002257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7517574 uuid:e5a4fd1b-7293-49df-b439-e0867e079d20 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7517574 uuid:de9248ee-072d-4c82-ae11-d60b70a27cfd phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_phenotype HP:0004429 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7517574 uuid:b92166a9-f262-4fc5-abb9-a7ae24ff70c3 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_phenotype HP:0031691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:7517574 uuid:a2b3e9b0-9f8e-477f-bef5-1e45528d05c4 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_disease OMIM:620813 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:7517574 uuid:c9755d7f-ef31-4a69-afd0-40fac3af4cb7 phenopacket.store:TAP2.PMID_7517574_EFA biolink:has_gene HGNC:44 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:7517574 uuid:0e68ffeb-4ae1-4fb4-86ab-4c2c37876551 phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:6e5269ef-0b4c-43c9-80f6-46e3a48bb639 phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_phenotype HP:0004469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:93b351b9-53ba-4dc5-9fad-064cb50624a1 phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_phenotype HP:0002257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:e92bec44-6b0f-48de-a45f-a3784cd56b54 phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:a87f2e18-5695-4caf-bbb4-a95e5d0844bc phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_phenotype HP:0031691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10560675 uuid:54c1af72-658b-4b29-b734-279a91a5f4cf phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_disease OMIM:620813 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10560675 uuid:98208f87-544c-4a1c-8497-244056f7188d phenopacket.store:TAP2.PMID_10560675_P3 biolink:has_gene HGNC:44 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10560675 uuid:d74a4f82-3de5-4414-ba60-633db818a1a4 phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0011109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:66980797-37f9-45f4-8432-f26dd68ed0d7 phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0004469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:10560675 uuid:785eed31-1ad5-43f8-bc1b-e1661a16f912 phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:017e373d-20e1-4d6d-b930-8611c1d0c33c phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0002257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:e049c58d-db88-446b-95ae-42f2f3b1e461 phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0100582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10560675 uuid:03cf154b-b092-46c5-b987-9cd3dc46131e phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0031691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10560675 uuid:7b70f304-d2ea-4701-a903-12ee97875a9c phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_phenotype HP:0032230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10560675 uuid:7562fa52-b419-4c23-a27b-84b2c6e10fb8 phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_disease OMIM:620813 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10560675 uuid:76ee6440-6f1d-4eec-9acf-712c1e6eb2ed phenopacket.store:TAP2.PMID_10560675_P1 biolink:has_gene HGNC:44 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10560675 uuid:af8f1963-a913-44c8-a0a5-3c7b8ef0df8e phenopacket.store:TAP2.PMID_36229627_Case_Description biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36229627 uuid:ff40fa16-95ec-4278-bf7b-623682df765f phenopacket.store:TAP2.PMID_36229627_Case_Description biolink:has_phenotype HP:0004798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36229627 uuid:9cb577e9-b396-4a7c-8653-0aa2c3664e0e phenopacket.store:TAP2.PMID_36229627_Case_Description biolink:has_disease OMIM:620813 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36229627 uuid:108d8d82-c35a-47c5-aedd-3ec1f98c0561 phenopacket.store:TAP2.PMID_36229627_Case_Description biolink:has_gene HGNC:44 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36229627 uuid:e1b2af79-56e4-448d-8495-82dd84be87f9 phenopacket.store:TAPBP.PMID_12149238_Individual_SM biolink:has_phenotype HP:0000099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:12149238 uuid:079c8b65-97a5-4e32-8908-6ca5c7381765 phenopacket.store:TAPBP.PMID_12149238_Individual_SM biolink:has_phenotype HP:0032275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12149238 uuid:5338c745-e52e-44bd-bae2-cbe022e83248 phenopacket.store:TAPBP.PMID_12149238_Individual_SM biolink:has_phenotype HP:0002205 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12149238 uuid:4c13f684-3013-439e-9294-1198fa541481 phenopacket.store:TAPBP.PMID_12149238_Individual_SM biolink:has_disease OMIM:620814 biolink:CaseToDiseaseAssociation manual_agent observation P44Y infores:phenopacket-store PMID:12149238 uuid:7a1144e8-6c03-4868-8f4f-9c702693247a phenopacket.store:TAPBP.PMID_12149238_Individual_SM biolink:has_gene HGNC:11566 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12149238 uuid:4e5ab4d5-1b14-42cb-836c-cc8b8a730e7d phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:8067b5fc-681f-4b38-b0cf-9594ed44cd52 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:92f38d35-e0a4-49d2-bee8-8a00bfb7cd02 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:2126503a-cdf2-444b-9af5-de12a7f1fa4d phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:88162efb-7413-4406-b217-114039f6fb52 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:c77b0e4d-59c0-45e8-9283-ac9c46c4f0bd phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f55b109b-1279-4578-8659-20d45186bcef phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1aa68406-3b1a-4d10-9937-d854afef15ba phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fbd45cd5-1227-4353-ba15-1405d9f5074c phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8cd62c8a-5947-4603-a562-11675825dbfa phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b7d646c6-3d82-4e62-8b08-214f5e555993 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8bbcb478-b9e4-4087-b806-992125219848 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f936a1d8-a1ab-4b1b-9c01-d4c5e65559e5 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:db2d20af-5bd9-4da9-84fe-721814707379 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:eec08f5a-6717-4f5a-9d2b-e35ebf2d39f0 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d1b0220a-5d94-42d7-bf9e-93bdb392d16d phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:91c78b8e-8c3b-4295-b206-03a8fa032e55 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:afa94e05-c621-40a8-848f-9c2e20821607 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ad917fc5-a216-407d-a396-27ca24e8318a phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ba14c928-4f9d-40ef-8aa6-f3273c7066a5 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b69fd441-b006-44d0-9873-4c636ac7623a phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:9145502b-a48f-49c3-bd57-bd76d6ecd48c phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1a62e69b-6c04-488e-819b-687a4ea658e0 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6d6e6c55-83f8-48f9-bc3b-7ecc66b14433 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:04951533-a514-406f-a967-324d6e998c5b phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a95f3c38-3ab6-4629-9f43-11d6dcb4d098 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c7a79710-32dc-4d01-b96d-3517970b57fc phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:625956a2-1c2f-4d2d-beb8-7af37cfb5b20 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:7b6ee321-949f-4634-8c1c-61131e8e30e6 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b830c200-b0a9-4540-9a02-13fb868fe831 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3d29ed68-bc3c-433f-9810-66c18e22403f phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b50ceb9f-1488-45f0-bb83-d9c5bb125256 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e32b5fbd-3e28-4116-92de-df480d16cb02 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bb28ecd8-b229-4f07-a833-12d4ac85c21a phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:78997a43-9187-4820-8314-1f56fe870295 phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:93384f25-8a21-4dde-9b2b-cfe293c8f88e phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:af3cf35f-31e5-4b33-a9f9-67658c4817de phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:60098db0-de3d-4101-8814-c3adcd9a0c59 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:29283439 uuid:f502836e-61d7-4cf6-b5c7-ab684328ac90 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:2ef1e8bc-94a8-4321-b2d6-f6d112fae082 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b18e97cf-8b96-4d1f-bdc0-f3c2dc6a0a3d phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8f0efae1-535b-4e1a-a4ce-3ca484dbca2d phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:5fb110b5-7d66-45e3-b8aa-a72198ffc74d phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:47cf1a3f-a8c0-40c5-9d6b-ad3721e43746 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:99f07876-1cc4-40c9-91fb-b16075140155 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:3f8d07ef-9a2b-43df-8653-bb82616efd8e phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:60ae811c-da43-462b-857c-73551739e7e4 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:98147e23-78ae-4ef1-bfbb-b39c70681408 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:d844c234-1a4b-4f3e-a148-e0c079577872 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:781b2dd5-28ad-456c-8fb7-680c12c06656 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:d9fb09ec-760f-453a-b6b2-c829e99d4974 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f5158bcd-8497-4bed-8043-5b529b4e5fee phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:82665fad-3f28-4e7d-9e57-5c2cd4339e85 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:d4a813f5-10e2-4dbe-a192-f7df89eecc78 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8667cd7e-9f93-4852-9006-b5816c15975f phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:5b17229f-4e0b-444d-bda8-4d48bec2cbb7 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:4a6f1358-62ec-4ea1-a6d5-bf80bec3243a phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:8db8c53e-35e4-4a78-8c20-22a9f91e3254 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:0e4aa623-204a-41c1-b60e-4a2c9971473c phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:00871765-4d0d-4a54-8d14-971aa569fbe3 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:df0b69e0-709b-485e-8354-10bbc9ea8ca7 phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:d9eed1ee-ef1e-4ebf-a288-ed776cee288f phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:48e24c7b-b44c-4a7a-9f23-a05eb88be625 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:89511d3e-a01e-43f4-9a82-c25562d60d78 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:5c8d7cc1-a3d1-440b-ac19-b81cf48a7576 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:a63c6e34-cd37-4906-88bc-79624cb2c9c3 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:59b27c21-ad70-418e-98c4-7c49afcd7781 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:9451a336-020f-4669-a284-af119247577f phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:c9b3bdb7-70a6-4143-8299-3b1c71beb197 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:8b1518bb-2988-4c1d-a7c8-361e53c014e3 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37876076 uuid:789df9c8-4705-47f7-b693-0d3a8b2c0c1f phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:3d5921ec-da06-4dee-9a88-5585a269b984 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:d264fcd2-f040-4e9a-b0c0-cf97ab6fdfd3 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:e7739e32-9a12-4676-8f74-78b4b9b381b6 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:5918d5dc-11f2-43e6-a1db-d4b737b8ea29 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:540e790e-636b-44b2-9753-6774a043f700 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:992ee0da-0cc9-48c2-a847-e3f3d6a60c26 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:08fcf25c-f38a-4f37-8338-6e2ec6cb5a6a phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:c41ccf5d-6bc4-4e12-a970-78d5ca87a080 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:73c8e153-2cff-44f0-81c9-d9a6b4069ded phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:77080251-e482-475c-bee0-b72ce28f7d10 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:04689d1b-b15c-4b40-8b05-6feb3fade024 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:98078fbb-d5fc-4a56-944d-b4129102b493 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:47313072-cb58-4849-b13e-712fdd539c75 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:06f15007-399a-462f-b8cb-ef8e179dc85f phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:23e859d0-ddce-4146-8f51-a302e129666d phenopacket.store:TBCK.PMID_37876076_patient biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37876076 uuid:ec39f4f8-af89-43c6-840f-a903e727ed63 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37876076 uuid:aefa1746-6ba2-478a-b5ed-6d8d696a1a22 phenopacket.store:TBCK.PMID_37876076_patient biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37876076 uuid:4fa36dcc-ec5f-4d2a-ac81-3256602a93c9 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:27040692 uuid:572818f7-81e5-469d-8a36-21ebedf74eb3 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:c4fc2018-ee63-45fb-a154-7bbe0e70eb05 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:4b637a01-87d7-40f1-9ae1-d4dd12fe17a2 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:36703e4b-254e-4679-98fc-67ad52a39b9b phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:f5dcbfa9-beab-4367-a51f-c02a7578e178 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:0f990d1d-5635-4f80-befb-1289ba639285 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:4f009202-2933-4497-89f3-3297a14df3bd phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:b0c9ab93-a538-4dbb-8ef3-ee8de44c5232 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:5588c643-bb91-4b43-acb7-f02dc67169f2 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:6c152b23-aaf6-433d-93c4-4f4670c1ce50 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:31c94cc3-7c09-47a9-a4bf-295f079fa37e phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:34f99f74-71de-49d9-b826-ab8800668138 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:920600c4-e043-49ea-b0be-2c41af790ceb phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:baee6374-67fe-481e-abca-3dc2196f5ba6 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:b5c76186-deb0-4458-ae75-edb7d145c80c phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:5962bab0-54fd-4b48-abbf-b54b2a5122eb phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:4f8bd240-a498-4b49-9018-059fbd07d175 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:22048565-d203-4d73-aa8b-560debca5ccd phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:ab878e31-4dd5-43fa-8503-aff051ace7d3 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:d0e8e01e-c41c-45bc-94b6-a7470a4d0f4e phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:67a6d2c4-b0f9-4d03-98f3-048ef7d76ca9 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:c33db01d-a6a4-4b1b-9c4b-9cc9584fb4f7 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:a0e2693c-c3d1-48b1-859e-22d03ea951f3 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:bfa57d2b-1d5f-475c-9bf5-7080e91390a6 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:b77149b7-b84f-443f-b743-ecc1c579f606 phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:f38670c8-119c-4e38-b01f-c82cd0fc8d45 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:ab3a4c85-44da-4ad0-850f-122447cb209a phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:b96d8319-f16c-46f4-b74f-b6811fea1b89 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:f5653d4d-364b-4113-95d9-6096b70e6cb3 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:d326d7a8-d8ac-49cd-b07f-f31b63c672fa phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:a26480c1-ba0b-49d7-8b63-c2e31b70c292 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:c58e650f-0bdf-4bfe-b349-01f3afe2835e phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:672ddd3a-8bb2-47f5-b840-f6da2b07065f phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:be76d659-84c9-4ec9-ad62-84c3b0191dd2 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:499c4bc1-5a22-4cdd-8fd3-4eabaf11594a phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:35f66ad2-3c67-4163-8168-d3cb3de6872f phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:a225dd8c-3814-4a7b-b13e-6783efb11afa phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:63521f59-4e95-48bf-abdf-35bf80be5640 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:52ebdb1a-964e-47db-b25a-de5dc79ab407 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:677e7fe0-eacd-4bfa-8e14-44c230a10aae phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:87f2f591-7e7b-4908-849c-825ec43f10f1 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:6b7c486a-40ae-4b82-8537-a81e4957a451 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:8a26b31f-b96a-43a3-b61f-c8662199f088 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:350ae138-2d2e-44fc-bd33-5659cf01af94 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:be8e77b9-ff33-4fc3-a989-540f2d3309b3 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:c316bb99-2585-444d-8615-7bc3f9cff8f4 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:8911c663-479e-49e4-a0ec-a550f3a348ce phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ddc53296-5811-46fd-a25d-64602fb70244 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:5e4f24b0-5228-404c-9e49-52ecac1c1cf1 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:44dcea61-f93b-4e5f-a13b-6120f5762707 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:c8bdd0b9-7829-4407-b55f-72cc574504b2 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:c9d3aec9-8dc4-47f9-90ff-3eac6e8c4caf phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:cdeed2ad-afa9-4406-8b09-51640f244213 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:9ee677aa-7dbe-4137-9ac8-4f8774cb3fa5 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:2a8575b6-e09a-4d7e-b72f-349042f7287a phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:5ff08e4a-f720-4faf-b45e-c41fcede4489 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:46334a47-de29-4be2-8074-27eba46b14b5 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ffd995bb-1cec-4428-b2af-c64470222d53 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:6bd97b06-9a56-4fc2-a75c-b30fb4692e77 phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:7bfb502c-7dbd-4478-a5f1-570aa461a768 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:09e63b8a-f97a-4e00-86aa-a68e9e2c7255 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:a95efb73-a62d-4b5b-af9b-2db127fc3c94 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:8a754dcc-6852-48df-9e06-28d9eef2b5a5 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:d72cd432-1f7e-4f98-84fa-1892487be34c phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:6e38dd5e-00c1-476e-a12d-07dff84370d7 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:87375bbb-437b-4de6-9970-21067462cd67 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:4b830efd-d83e-4e56-9c6c-11d9ba788b68 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:39e5fdfa-d026-4ee2-a948-07658649f0e4 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:25c31026-af7f-475d-9a31-9ab7e8e488c0 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:913db82b-2211-49ee-9a61-a383f19f7bef phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f429414e-22c6-47bd-b825-5a392458ca7c phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0ae4b937-319a-4e68-9f54-250b9bafb9c2 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:220cec51-9399-4d22-8e6e-bb6376640a8d phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:eb894e96-b696-4410-9dbc-5c18a232c84b phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:00a54da4-8590-489f-a208-e85b22a6d4f7 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ea732528-3056-4cd0-98d0-df937b739245 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fcb60084-c780-42cf-8b52-d8423e2f4b1a phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:31c005d7-cf12-4ea6-8598-8a65de350584 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:09fa7807-e983-47e0-b035-82349947dd89 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0056eb8c-96a7-42a4-9a34-9ead0b8d2da9 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2e5a7c30-ba19-4132-b13b-df40a9936d0d phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4a0b0120-8ac0-4de7-a1f2-c77815e9e4ac phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c8b798a3-ee27-4e00-b35c-04736a5f8246 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8a45f57e-d808-4c1e-b65a-5d3dc34e8302 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:18991cc6-b287-4109-8d12-0018dfdc9555 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5fd7fc12-df6f-4a6e-ba4d-a2870995e8a9 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4888cff8-620b-4991-857a-6418ad0be8c7 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2eb627a2-8cfa-4b06-9f45-bb0c2da60a01 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a818568e-c28c-48b8-890d-ec47f58ebe57 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:818dcd52-c603-4859-9856-9262d1eb6cc7 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5ab088d5-06d2-4666-8d9b-6f3525022cec phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5d337e31-77e6-4ade-ad01-8218258ac07c phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:debd5615-4984-4345-95c5-d2d06f109a8f phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:765806e2-f1a5-4196-8031-4e4c36445bab phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:05d09d78-0be8-4e82-9480-d485493bfdc0 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a6b057fc-9194-49b7-8750-c0659582ba62 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:9c52df46-7134-4ae8-8ccc-563a994a0390 phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:ae5e8d73-d971-4e18-aeb4-056ff9033dd4 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y11M infores:phenopacket-store PMID:27275012 uuid:0a57e16f-a0fd-4f12-92b3-80af5d12ef85 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:cea6b57e-81e8-4291-99c7-c994c5e94528 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:e8789432-5090-4c18-9ca3-5ed018d366e9 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:62057092-5f51-42d8-bf73-7cf3a8de2405 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:c6703925-582c-44e2-9881-d61f98d2d43a phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:cbe527d8-8c44-40b0-9975-ca3ec5acab54 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:50f54ab8-81f9-4ada-8685-365e3e90e862 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:8f3737a9-5309-42ea-9528-b96e9a63e203 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:de2a9b3e-dc3c-4ff6-a98a-0ee662f61694 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27275012 uuid:ba4e7458-0e78-4027-880a-eaa92cf6f91e phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27275012 uuid:b4ce6e99-4945-42da-b9e2-a7a81fda0175 phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27275012 uuid:dd11835d-95fe-4247-9ac8-45b89940342b phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:27275012 uuid:24ff5ba0-513e-4155-ada4-5c04e1e35fff phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:1cd4a077-b2f0-47c7-8fe5-322c4bc994fe phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:3f4188a3-6c5a-4a21-a5df-a2c6656428da phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:dfd95fbb-4ff7-4ff1-a03e-fa677726fd74 phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:838401c0-9764-4095-a273-1a989c224744 phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:d0f7c2ed-d578-4d6f-99fa-efb332b87f2a phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:548ed33b-d846-441c-9301-6186839bae8f phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:58a6198e-5dd1-40f3-ab32-10adbf49a197 phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:a434a803-6f89-4bb2-b7b4-cc6c056cb853 phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:e4f5c26a-aae1-47a5-8789-b30168c7efe2 phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27275012 uuid:aae61bb9-e670-4585-a999-5002d29e7006 phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27275012 uuid:846b7e11-eb01-44dc-b6a8-4f47ffbbc23a phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27275012 uuid:cae58d13-4489-4db4-8524-4d9713294eab phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:f53496f2-1c8e-411a-8e35-075bedec4052 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:4377b81c-f25f-42ad-93f9-ff68e2822c54 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b879c524-bc0a-497c-9b7d-da74e6d0a437 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:0efa7df6-f6fa-4603-aa1f-91b49311378d phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:9e23e33c-e9e1-4f1b-a096-be894ab6d43e phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:11b9a6e3-c632-4348-9289-eccb0a74ea31 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:2202fbff-3eaf-4fb0-916f-da441627c159 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:bf85156e-27c1-4aed-a17c-6ab26df7f146 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:0f7cba38-7379-42a4-83d0-15460fc54499 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:1f9865b4-34c2-4252-ad1b-a39ec7e2cc28 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:58f9043c-ddf6-45e4-b756-3ad2cba01d6a phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:84d1d7ae-7ca0-419f-a01d-fdc7aa17655e phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2faa219d-91af-45bd-a982-e15d6e3d912d phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c71755fa-8213-4017-b1b3-26d4052fafb6 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2564412f-4599-483f-8f2e-08c8c097bcfc phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:77e8ee30-f7f7-4afd-9917-891da81af599 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:42727897-2785-429f-b716-d842f4bb371b phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d8ab1e62-2cb4-4375-996d-d7e97b7ab60a phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8dffa2cf-b475-4e57-96a6-e3d57b27b5e0 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2c497414-a200-4970-9b1b-ff3fe9213c69 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:08af44ab-04cf-464e-adeb-cd15255a9c18 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d8cd83bc-a223-4707-98d4-ccbb8c220a5d phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f0df17f1-7dc7-4104-a13d-aa6a74a869c0 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:34c2b6c7-0aa6-4d0f-803d-6d8b1d17a452 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f833a9a4-5231-4121-9513-1ba7996b259a phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:89d01b26-e67a-46c2-a4af-9b339b338526 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:105a63b5-f560-4164-a15d-b7a050f9a7dd phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4ef4b4a9-2cb3-4762-8914-3c0aa19950e3 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:65268dfe-1867-489c-8c8a-c160041227e4 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a7f0cdf9-18f1-4fee-a3f6-791a62d804d3 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:78ce9d7c-cbbe-4e3b-944a-1ff20e36eb4c phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5ad88f56-61b2-4aae-bdd2-af23272fb14d phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a58a0a39-6e95-4528-a2ac-e0589dc59079 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:171c56f0-fb28-41cf-8be1-4a4d2ba5a268 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:7cc9392e-d221-4dd3-927a-3d9e3fbeeb29 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:81747427-ebb0-4535-b7e5-8bddb45caa35 phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:d6c00466-5b53-46aa-918b-b4560b08100d phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:5d2fbf96-2b0c-4c72-b406-bcf65182d514 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:36273129 uuid:12c96f7b-09f3-4cba-98a1-bc52a703e516 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:70e9c13c-c687-44de-99bc-045451a8ab92 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:d0254cb3-835c-47b1-bbb4-29792ee1bb1d phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:70920873-5b5b-4ec9-bce1-acddd87b01be phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:d1f3ef94-121b-4263-8ea8-7c2abb2488a3 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:ac477051-dd3c-4bb6-af31-e21733a13ee2 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:bdcb6fad-53da-49d3-87e7-a9c185e29679 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:61db94c0-a9ac-4911-a4a6-06e4f5fd2498 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:b075dad0-2578-4a9e-a9b4-03927b8efc09 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:10afbd31-117d-4b34-be56-634a0f9a73ed phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:f55cee76-7021-410e-9787-8a80cfe7685c phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:2bfaf424-1dac-4009-a255-bedb391d48e5 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:fba848de-bf0f-4066-b7e6-328d6c08426a phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36273129 uuid:0b0d7a2d-abb6-45ee-92e5-3af4022ea3f6 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:662ed1fd-3a34-4c42-a69d-d1e055bbb06d phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:02691fa7-b4cb-47ac-a9e0-8c3e9e160b64 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:fdac1787-ce2e-438b-bb74-2b0b6f73e403 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:fc236802-291a-4124-91a7-b526a6d8b80f phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:37ca80c4-5ab8-41c6-8154-b2f7eb5d2a54 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:85aa1dcb-8d4e-44b2-b7b4-8fa4180d2ca5 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:c6a0a93e-374b-404b-a2d0-2de918279f08 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:f6c725de-5375-4c35-b150-311c349c0eaf phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:598ac306-4966-499e-b832-f9e4b82a58db phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:43d6ff81-00f2-49c3-855a-37623033bb0b phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:0991635d-8ca3-4f81-8df8-af109718208f phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:ae5ee305-92cc-483c-a566-7c21826cc95a phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:4c81d0f8-a2fa-4f95-b73f-0098db4f133f phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:c0b96a37-7308-4bf4-9eb4-97ab2871cdd3 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:4d57523b-36cc-47b4-a11a-a6b904d355ad phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:21338d89-ad06-492e-85b6-401dabf44716 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:a4627b42-088e-4f45-8665-2cd45a127614 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:b3ff03ed-3b62-43cb-be4e-6f4cce1bdd4c phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:2eb71a98-0c1e-409f-94c7-6a0c512beed0 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36273129 uuid:5bd3b1b2-f47f-4dd1-bcea-0f6ded9c16a3 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36273129 uuid:7c5c88f6-e08d-49fa-a3ea-2ea8d14320a5 phenopacket.store:TBCK.PMID_36273129_patient biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36273129 uuid:32c4ca68-947a-40d6-9ffc-8d9898690f82 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:27040692 uuid:e483e859-dbda-4bb6-aad4-9be3f596ba3e phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:52ab778e-142a-4db0-8866-087db3b87387 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:1b3fa562-954c-4498-aa55-882454fcb6c3 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:2c549397-635f-45b8-bb13-3ca11dbdcca4 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:06579f68-dabe-4ad3-8a7c-23e0ac3c13cf phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:16ca05a4-1e96-434c-9aca-5c87de9c4a5f phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:2a0136e3-9d27-454a-9afa-e59717cd9873 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:3f1dd10a-cbc1-4edf-a595-8605140bae6b phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:fccacf9e-4a21-48d4-973d-a57677f93eb5 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:62904301-2eeb-4f3b-a87e-eb2103eaf8af phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:031391d4-16cb-4149-850e-b61661b7ded5 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:2c5d52eb-9641-4cb3-81ca-9d176e8744d1 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:9e677a5f-43ba-45b1-a635-8bf4ee6a0680 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:90a07da8-d0d2-47aa-aeee-e055cf365c79 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:ca41940b-77e2-4bb3-ae68-bc6e5f681232 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:ba6bde3c-ab74-4667-b973-d1c8fb8fc0c1 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:4a739171-af3d-4320-9ab9-008e6ea1b555 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:7ff22599-7334-4d62-ac0a-1f8f37bed094 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:97674126-680b-42c6-9237-768b5f7dbe97 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:7830af3a-f510-4bf1-9bbd-11598efb8418 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:208aa357-b870-4902-b3bd-1fb3d0cd50bc phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:a2b790c6-c904-4aab-90e2-4ff0c09e294d phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:0794c485-8e58-4643-b0e3-6e50ad2c4775 phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:b66f151b-e5fe-41a2-b97a-ccdd8610b7f9 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:df8a80d4-537b-48a8-b306-5c48bb046eb9 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:ef8f398e-de20-442f-845a-07251895a7a7 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:7f658245-bbae-4a8f-bcbf-8b6992b82e80 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:025862ab-6b0b-45c3-a916-33272c54f33c phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:294e9b31-5ba9-4bd5-8c5c-a7312ed9e1f3 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:204645d9-bdf1-4957-876b-14af9df5dd38 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:cd65d8d8-f377-4522-965c-b80bd19703da phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:45df6ac3-e363-42d5-8e3d-2c856cd25d4a phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:6020af3b-cda0-4649-a5c6-a84b5da88180 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:a85bf6c2-370f-49c6-afb1-4fcbae14c72c phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:0e35a661-b4df-4ad5-8888-663a3fd08255 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:66765942-0a36-4f35-86b1-8ea88570d149 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:c3690d11-2c41-4c14-94ce-28f38e05de8c phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:c693104f-e71a-4a0f-acd0-63de729713e5 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:b2bf8b9d-070e-44c7-aed3-b895a9ed0c7d phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:1be1d977-e6ab-4f46-9753-d08dc9bc4e95 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:1b27dbc0-0bf6-4118-8742-d80f5f6e7651 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:a129e295-4b7a-4a06-8745-f264a01eb654 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:f4e97b33-6984-418b-ad3b-1c53f283af1e phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:a6f0aeba-0472-442e-a6d3-ae8a72f31454 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d3c71bac-c944-48ff-8421-345ce29887ce phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ec5862db-61c4-490b-8f93-628dde571d69 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:c00d3579-9ba9-43df-9e3c-dee75d22386b phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:3eca9706-8dd6-4d59-94a4-9614184c88e7 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:78ea7185-7f53-40c4-9dee-4b657221a1ce phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:b3d916bf-1c01-4a5b-8739-01131aaf2776 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:143290da-5fa5-4438-9e63-b1844d1af53b phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:e389bbeb-a80c-43a0-855f-860fa9948f8d phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:f3df9636-3d99-4e2b-a69e-b829ef98cd57 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:32a44711-d32c-48e2-94b8-032cab16d8e0 phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:f36b024d-57da-475e-9e82-6ae40ef2eccf phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:5c2d5f52-65ca-40e6-832e-a961875e5849 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:90743212-eef7-48a6-91c0-289979493a72 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:346c330c-de88-40f4-8c3f-0b9d06f728e9 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:649384a0-a6db-40a8-8103-6626a2cc6118 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:316cc6a5-af11-4c3f-8a4f-6cbaedab589c phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:265867d7-535a-4677-b311-3ed87c6cc960 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:57a4aa14-e653-4d5a-ad49-627c14e432eb phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e0ad57c3-dff7-4569-81c0-e35a61216001 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:23b1dec0-177e-45b1-ab40-c99cc43fa836 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:dec2aa5e-9363-44b6-b186-e53058926ba1 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e5c933dc-554a-41b4-bc92-c54400afddd2 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:7c10078c-da4d-455c-b082-e5a9b9700649 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8e1adf87-6bd4-4142-9747-2ccc7d613a3f phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1df92759-a22d-465a-b85f-2812d1ac74e4 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:03a3a055-c7a1-4de1-9dd2-56ccf1c59b1b phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:552f7d6c-87a0-4282-ae39-95bb2d2cfa7a phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:19266b59-6232-47f1-821e-3feefe6ec401 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:18426f8c-0f97-4053-b30a-9a8554ead223 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e0cb74a6-4d42-4536-9f14-5bb0cfed8c4c phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6147a82e-7734-42cc-9992-55317e4c1962 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:53bab860-d7af-460a-88eb-44db90c9bd38 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:098487e0-3641-4780-9e9f-f3590d269c53 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a17f124c-2d93-4cb1-8245-085af84dedeb phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:caa5b2fd-0186-42f7-b3bf-2b576bf3116c phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c98e0c81-b683-4dc5-8e58-423257f35030 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:be42ad22-2fc8-458a-8f77-9351353a9c95 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2c39aaad-4d62-4e83-bdee-7e0c9eaf96cb phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8b193d4c-a508-4c8a-aace-cc1b2dd6f82d phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e4262666-548e-4291-866b-8b4909565d2d phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:67399e73-704a-4c61-982a-f9a24c88f8a9 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:996e2877-f153-4500-aa8e-f79e68c32480 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4143af66-88ba-4c45-9d09-b43ba9c4e4db phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:50492273-afeb-4a38-b2d5-5f4508d7ed7f phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:341e217f-bd9c-4031-acb7-9c923e3b4f99 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5b332168-0a7f-41b2-9d72-1f354d45b732 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ff4871ef-481f-48ab-87dc-afa4737356bb phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:cc2a75b7-c3bb-47d8-8ef5-0c1eade66755 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bf05db53-c0ee-4bc2-ae3d-89a783eecab7 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:74f59235-a540-4033-9e69-1982dc5538f5 phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:dbb5fb57-c520-4456-90ed-9726a7633c52 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:27040692 uuid:2c793a45-29ef-4e61-851b-d55a4415a29f phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:44644a32-bb09-4bb1-912c-0f50ebb0b869 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:717994b5-b812-49be-a5dc-6fcefcd59075 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:5e11015e-c730-43d8-9d7b-34e6db8a19c8 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:7faef062-e4ba-4323-8570-b8c578fcf341 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:f2396927-f3fd-4d53-b021-5841fdc2e0cc phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:ae873f94-4054-4449-b10b-3ca989af6d6d phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:47d943e5-f0ee-4f9b-af0c-3b449678ba86 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:2b7079c8-ccf0-45a9-9e9f-f17647ed9345 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:ef85d686-0cdd-46e0-ab9e-db9ef8ea7fce phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:955dfa60-f4d0-4288-860e-4023864b97c3 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:0f01818a-f098-4748-b8f8-facf69b0881f phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:3aba04c0-f800-472f-a333-5b2a345df649 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:b0c8da89-f548-44fb-92a5-579b2accf6b6 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:08dc8102-d52e-4fc0-b8ed-b9e3777363c1 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:139f99c0-e1fc-4429-8f3d-69a58eda07ad phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:aba85968-ee3f-4afe-afca-81554f8400ef phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:f13a0b69-6d64-41d3-a529-71e58c5fca6b phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:85f31be1-6fa9-476d-b9d6-16c2fc2450e4 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:4a9cd588-b047-43c4-93d2-f36a18d79e79 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:97b4cf53-0918-4c09-b3aa-f2f9a5f2b3c5 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:23e4fe4b-6f1a-47e7-bbdf-c7a323310b6b phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:c84e9b64-e158-4a1b-845a-1a83853ec7b9 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:4ced01e4-ab19-4d0c-8014-04377f59890e phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:ef60c520-01b4-41d4-b158-2864a46b18f2 phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:0476f11f-998d-4615-aff0-e204ae243400 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:1fa6e094-a122-436e-8235-20562d81025e phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:51f9b018-f6c7-4571-bf7a-dd6f48a30828 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29283439 uuid:c6ecbf2e-097b-4725-950a-795a4e855ffc phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c1667806-6a3d-4528-beda-494fee40713b phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:a1da2bcd-846c-4c0a-8dd6-8c9ca2e5a609 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:9b13e30e-4687-41a7-9d5f-0260aaf1023b phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c4bf33e6-65c6-46d6-bed5-7716064b8763 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:0d6d3306-7e18-4a03-af5a-e6b6ef8cc5ec phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e4b05354-87d0-4ea1-8dca-d2df6842e6ab phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:fa611b9b-b0ce-46cc-987b-2f94f912624c phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:6123a793-6677-4eb4-971e-929e4c76724c phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:20073338-90b6-452a-913c-f99ef4c68920 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:f8231a9f-cb33-41e7-b715-2f03d347e1f3 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:1b5450fa-1aee-4961-8121-a73c38dad7fe phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:e612ef68-4168-4437-8f87-67b77335b23a phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:e034786e-d369-44e6-93b1-223a2212c32f phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:8b3d3d1c-5aab-45f5-8196-9421847e48e6 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:d3ea951f-889f-405e-afb8-f8c811980f68 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:a7e0805d-f234-4e0c-a5c9-87cd410329c2 phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:fd53cfcf-fb10-4d3a-b78b-9aafdade6487 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:43cd9988-fa64-4d6a-a77d-046fa12197e9 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:5e0c3f49-a898-4bfa-b7a9-4d75d701e203 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:c02508bb-2503-4ca1-a415-b9149b919a1b phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:52d3a1dc-1b6a-43ea-8f8b-d784d3b22936 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:ba9149f0-3d92-44ec-b9fe-4362928c0eb3 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:93ff08a6-3232-40cc-9465-7a5845a88eeb phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:3db0bc76-25b7-416f-a9d9-e543da3086ca phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:cc3cee0a-e9a0-4ccf-adf3-dad3e3c24beb phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:5e3beab1-47a8-4bd1-873d-780707eef6fa phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:61ca190e-f991-4fed-9e7b-d7bbbb46e47f phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:2e84f7f6-3096-4093-a630-781e2b2ca6c0 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:2f1717ea-6d13-4142-ad82-2ac3988567a6 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:926fc3ac-d358-4a41-adbf-c64a7a93e6bd phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:8ecc8d85-b440-46c9-b0a9-8b69390639fd phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4c27a83f-ed5f-4f17-81d6-3da48cafbf2a phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:7e7285e8-0f44-4c37-a174-019c4471f368 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:43ac3b05-2172-4f6a-b4dd-e4df92739010 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:62748e09-7915-45c2-be0f-75648406b268 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:241184cc-7849-4a13-9628-e71179cd6291 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:bad18706-b0b5-40aa-8f67-c2264f01cc1b phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:09c076ac-4752-433b-9139-163b1ae9e2df phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d719aaad-3ffa-4952-ae82-ff7c792308f2 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:a6a5e0a2-3fff-4742-9e39-f3ca8ced1c7e phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:af583026-3199-4300-a296-cfb9260c51a1 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:7e54ce50-2c00-4337-9845-af1d8f55119f phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d927608c-dd53-4822-aa7d-50a333f3e680 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:feda711e-a1f7-4525-bf0d-3dfc80e8b02a phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ae9ef79f-6e6c-40eb-b3b5-d460a64049c2 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:f49ae0e1-ca95-47ac-92a5-f4a6a1864da9 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:3bee18f3-31bc-4963-b894-004e66d4330b phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:067ba646-1577-4785-baec-f6f5c64878e9 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:baed5db0-6575-449d-a893-cbad7c8ccecd phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:3f14d8d3-62a1-4759-b7a1-19373a73acc5 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:cfd95493-de66-41e4-a551-2ceeffbd2473 phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:ea42b0a1-ed20-46ae-8f3f-2e08b56b9d58 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:a4441c08-bdd5-4702-9b91-a02135e2dae8 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:ac6a5006-e553-4681-993f-d28b6fe0e27c phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:4176eff7-04f9-48e0-9b78-0ae6c1d472d4 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:fe21530a-d126-4091-a5ff-8cef77801bae phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b293f1dc-7d37-4d8e-ab5b-3baf3dd109d9 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:035d61d3-d20f-4074-b2bf-9c5a091e1605 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:540a623e-682c-48c6-b144-889c2abfdc53 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:1b91ae2b-bf5e-4ea4-88a4-7b6d9a4e9b52 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:cd53e652-85fa-4546-a52c-2cd6c1476497 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:866a2fce-915e-41e0-b72a-b562748c6c23 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:58a232b8-da6e-4358-a2f4-34cd3af9c18a phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:93ae3662-7957-45d1-9316-5cc4fb2473bb phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:48265b97-9535-457c-ba46-faaf2fd932e0 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3a05439a-05a8-4f88-86e5-a3770cabbffe phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b4fd0ddb-167f-40db-afd4-94158a234ff5 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8834255c-5019-44fc-883a-6bb20936486d phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b401d189-f7bb-4315-b10f-8a39fe28252d phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:58c57fa5-f9ee-4eb8-bfaa-fa21cad5c568 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c46fcc2c-87c9-42fd-89ac-7e7ed6052222 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6901202a-5d06-478f-b5ab-437a734aff6e phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d1c798ad-610a-429d-b027-f28751f897f7 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0c01e318-6b96-45db-8245-15bba2a152ce phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e040930c-0a1d-4c04-8d6c-5967972b3506 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f9fbd7b9-2526-4bf2-8eb9-0088c1a00502 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:935106fe-a7c7-4fbe-a510-e17d7a9f2b8d phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ca0051d0-aff9-4bc7-8a45-2ac21d9952e1 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e08e69ac-4dce-463b-ad29-168d6768a083 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2faa978a-f311-4cda-a421-3f77d21760a6 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:dab84b33-299f-4667-aa19-99a574635ba5 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:207c5812-4e33-4548-9557-75f513d3c578 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:16d72b0e-e08a-4845-b690-f3bd8c52c01a phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:45bcdb96-8e06-438f-ad65-34ffb5af22e5 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:73fe9f27-f417-4885-9d43-550d2053c43a phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d4550306-8653-4511-a70a-567b551feefd phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:7caec2ba-9de7-44af-a32d-93ef08b0c10c phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0c12253d-83f9-4b15-a176-e01582f09978 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:cc12fed4-0196-408d-a019-d9d2ade38a46 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:c82355a5-63c3-40b0-8727-b0cb3b754020 phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:9897f3db-60cd-4401-9020-36ad2aab861f phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:36522252 uuid:c2a259b8-199c-49d3-9b6a-88654cd84278 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:1777e0f4-f682-41e3-9b95-719eceaafc22 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:3bd3149c-2292-4c32-964e-b035e0efd77e phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:8b8d85d5-ed1f-4866-88f9-2ba2174a5e90 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:18c3ef3c-b446-4c1c-a6d5-e46088b98426 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:275d5083-4e2d-45e3-8ee9-c951c2715923 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:e4730578-1853-4fa6-90c7-14537a4eb03a phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:aee69577-2c67-473b-bb12-32988486e74a phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:e2343760-ff87-4229-8abf-790e36d3e40d phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:85ffcdfb-b4e2-429c-9c77-552912291204 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:9bd55c9e-bf5f-41d7-ac7e-e0f82d08a8bc phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:1bcfeec4-54e4-46c1-a4ae-34b862e7a407 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:b3a196b1-1406-4bd9-9d0c-591cd2d3d20a phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:6d26a57d-d056-47e1-8bfc-0618edf491f2 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:3a1492ea-2727-4072-ad16-292e6ca9aea7 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:52d6ef5a-d8cf-4e82-81f5-11858228a98c phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:6022fa91-5dc2-4872-b883-24c10b6fc692 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:570391ae-e3fb-4ab7-99bf-07084bc2d5d7 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:78a638a3-3f51-4b95-9c8a-a77f11f71aac phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:842dc8e0-0735-4bb5-a243-edb202328648 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:9da059fa-8ab7-470d-8277-fa2c854a33aa phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:63d2195e-48a4-4b55-9102-8df87eb98aba phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:697e7dc6-f940-4268-b155-32eb800a15b0 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:6654f79c-e961-4f3f-8db8-451f0fffb46b phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:891272ad-cc0e-4605-89fa-bb6b17cb209b phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:17059ff7-4201-46cc-90c4-c6652bedabde phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:173b66d7-7c2f-4b25-8b20-a07356ff6d29 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:b7b07d9e-5124-402c-998c-7e1bb59e12d1 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4e02ba2f-eacc-4fea-8227-0f1375258230 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ae06107e-3c1a-4f62-8519-8123a447faa5 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:fa681f53-7ec9-4e8c-b4de-b30eb04e712e phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:a9257625-8dc2-4379-b4be-ad935912324a phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:2a87ce4c-fa8b-43be-a4a3-461fd6f58efa phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:13c605ad-ffa5-48a0-a3e3-8564c62a1825 phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:cb07e66b-8dfa-4d2e-a393-3d56fbcea8e0 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:2ed8b66e-7892-4b28-b34f-e3f4242a9b71 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:a7312b59-b372-4fa8-aaa1-ba74c37ddefe phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:5d20d3b1-8210-475c-b70a-3f4e7ab6506f phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:bcaab40a-c663-4177-9f27-bfa0e7545449 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:ed2adb42-5677-4ad2-b17c-1839c41d99b9 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:3aa21034-7310-4bd4-9c9d-bf8cd383aa60 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:ef9502bf-0a7a-44f0-b3ec-72525cd29c38 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:43dd4af7-7d88-4a4a-9366-135093ed33b6 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:209e8100-775e-4694-b5af-3958c18aa87b phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:f7d850a4-45d8-4f7d-b01b-143e23e0380c phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:26369a63-8721-4493-8763-7149b30a3d4c phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:66e824db-dbd2-42ed-b8fc-cb000710c8f2 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:54d8256d-abf9-40b0-9c75-262340e1e4e9 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2b0a2e85-b7d3-4e2e-adbb-d2833e2fd92a phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4288b0f3-4057-4282-9254-9a712d4e0a26 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:03bc2a39-1e09-4f32-960a-0ea7a9877d11 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f75bf732-0ce1-465e-ad83-716724931844 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:64f95986-c01f-4093-86f7-867f2a84ad4a phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bc309759-83d6-48a7-a8be-070668a994b9 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:eabbed0d-405f-4374-9a12-9480027fe93f phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:75958d80-8239-4ca1-aecd-401597a07a7b phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:93602a06-0ceb-486c-a30a-01e0746b8707 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:21a34b37-c2de-4ac1-9789-2df56c2dee65 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a999de82-886c-47f9-819c-7470545ccc37 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:37be6b9c-4867-4d73-b732-95e9b8d9890b phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8449bc49-71f5-4266-9d45-4973cc8e225d phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:83bc9f56-7055-4c55-bdcc-7412892ebf86 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3c949a97-48f3-484f-8d7a-c68d582813c6 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:25a4ba9b-4e98-4d1d-9729-2f51216fd653 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2cdbc5c7-0344-46ad-a2d5-83be3baef123 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f3fa09a7-317d-41af-b2a3-d9011b62c072 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1da33bfa-e471-462c-8ef8-f1f50c64f655 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:36386932-21b2-4239-9c77-fa4e9aa53c05 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5b851edd-9ad5-4f42-906d-0d3db2f4225e phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:342c201f-71f1-4c9d-a3a7-e16833915bb8 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0014e99c-c441-4fee-944f-c12bbf7b5078 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:98d41266-19fc-4e1e-8bf9-a990bcf0f1a4 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:25ceba3c-5a4c-4028-97dc-861dad1eafc4 phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:0cebbc59-fd40-4f08-9c43-6bc2404cd892 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:c9995356-815f-471c-bc5b-97c97d7bb09a phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:338ff71c-12a9-4bbb-a910-1ce9b8634241 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:c89daa74-892c-4210-be38-8a9ec8a2dab5 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:dd891936-fe48-4d7b-b88a-77814afaee43 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:5c5e264d-1217-4ba9-b0bb-9b39b32a8f00 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b4591476-0b4e-4fac-9bbb-0d731f5ba5cc phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:41b80082-895a-4120-a219-d35fed58e4a1 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:f495a261-e166-4e6b-aec6-51788d5b7840 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:8faf5777-1de9-41e1-aaae-adf560b6fc10 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:a0c6ff1d-c226-42f4-8729-dc60043cbe2c phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:cca07502-aa1b-4c91-acf1-69c2843f9045 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:ef26cb28-7b2b-4c87-b173-b2b58879fc1d phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:6fac32a3-b7e4-4b21-91ea-63c9178c9a31 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:5b7ea33f-acb5-4115-b235-5d5fd61fe25e phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:01baf543-78bb-4719-8ec8-502556d021b3 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d73aa681-b615-428b-8ecd-8746049bf20b phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:840a0554-c7ba-4642-801a-e3abecb17c00 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:05ec9fa8-ed3c-406b-8c83-3f313d403112 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:43c72629-0ba6-4a0e-a6ef-f3a16c447606 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e772056d-0430-485c-86a0-4ddee4552590 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:dbd0087b-c16f-4ac6-92fa-3c8d3957fe57 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:462923b8-f5c6-479e-b708-14b4081f85b5 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c8618c83-0288-4702-a169-723f608e535a phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c5858ff0-9d68-4473-9624-0e45b2330717 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c1cb3cff-d162-4c9b-8510-c7fe94846210 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fd94f479-f35f-4c22-b60d-af9fe76c8967 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f76f3638-7acc-4846-b31e-0364063587ca phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5d2b123c-e354-4fb6-84a7-eaf60b3a1d73 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:768fece2-840f-4e3f-9d44-49b4a7ecbf6e phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:446636ad-fa75-444e-9781-6a78446b5e7b phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:79584cc7-3938-40e0-8d3e-63d4f6ce97f6 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1bbc4163-78c5-4b69-8111-7c473b825916 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bcd8ea6a-389b-47ec-88f7-77f6bc9a8793 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:51bbf5c1-6671-43f7-b9fa-8d0c9c9b248e phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:adc8b3db-fbd8-445b-b403-81288cf7add1 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d6ebf426-2697-480d-b53b-9b64008367c7 phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:af56d2ee-2405-4c4d-a9d2-a808a1847bdf phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:f1f3acef-0a2c-4579-b1b0-0dd778a528e2 phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:27275012 uuid:719d2825-66cf-4de5-816b-ef8375ed681d phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:dd39706c-708d-4ce1-8add-d1849d3ed06e phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:fffe255e-f0cd-4e2a-996d-684634ea4ab3 phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:4a93ecde-c567-46a4-bf44-3b6d034efd92 phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:a4d7f244-69ff-42bc-b9a0-c0c174c9f0ec phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:cafde4c6-2559-4257-be2c-5093914297ae phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:b75d43bc-59ed-4528-ba1b-e299b56478ba phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:8187a2ba-0551-4c35-b568-b97bb5cd27c9 phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27275012 uuid:70ac48fa-a3f3-4616-9875-38dfe23a9f8a phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27275012 uuid:eafb5728-6d93-45e1-8d95-8d50d7661ae5 phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27275012 uuid:6e94b11c-3ff6-4e2c-bb61-2aa42e885e0a phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:40b05a19-7c29-49ad-abdb-927ed8fe1b57 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:3585c39b-9228-4f37-ac50-740444c18a21 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:9b1e7524-ecb9-49f0-9b8e-de3d9c2500c4 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:d4b03d74-8b29-4f6f-a5b6-5bea82297478 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:e1969098-7ec7-4dd9-845d-a947825c47cc phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:0fa537aa-c7ac-4cb0-82ea-fe460609d480 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:3642f48c-4599-422c-8984-d6db2fb9a9b6 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:d3d01b0b-a698-4cbf-a7ac-8f521cafeb7b phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:f8ba7b31-9b3e-4fd8-8017-6bfbe8f04ecd phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:ac791aff-84a6-4686-a034-32f8ce7a9b66 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:01f89047-8430-4eaa-af03-ac419908e224 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:49ed77d0-8e9e-4942-b4bd-9f80d9bb726c phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:11dfbb21-455b-4ac2-a70b-4f621c78ca66 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:6339920c-7f20-416c-9454-5888f190d05b phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4d87bc16-fe18-4c90-a0ac-4d8d6089bee2 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:1044da07-da0f-47c4-9292-31c524364b96 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:2cc507d1-66e9-4ed9-ade5-11368dcbdd71 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ff369086-354e-4753-9aee-0ff38ed33718 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:40ae2cd6-e2f1-4236-8590-533ef8b81e35 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:02e8176b-7226-41c6-a911-5edd6523b0ce phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:8b903cf7-1a44-496c-8563-a36246683db1 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:5872bf62-0feb-432a-bb1e-2bc557c3891f phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d482b84c-43a8-489d-ac72-4226c32ab326 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4a4ae656-f287-4bbf-93ee-a0ecb3788520 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:663f3476-ad36-4099-89d0-7178b2e99f5c phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d4a92d20-c26d-4f98-b854-2a686540ec2d phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4620b5fd-ab66-4b03-914e-228403641db6 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4830ea6f-490a-479b-9080-5d0cd014c514 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:1b3a50da-00e1-4e81-89fd-3801264072b3 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:b44f7dfc-2cd2-46c1-b933-cf9c898a0e4e phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:36522252 uuid:208dcf9a-4713-4c7e-935f-238ab1df1ee1 phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:d5048ecc-c072-490e-b0b5-6a37a7e018b6 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e60d1373-c371-4f9b-a19c-17ee38b5bf51 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8c3dbf5b-0485-4cc4-843a-117097e68680 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:29283439 uuid:efa23a6f-4dd7-4aeb-8bb7-75a3267f3c36 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:a6460d45-e779-4265-aaaf-5a7ffd6a70c4 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:41ad9a2c-7c00-4ced-b402-e0d2798db7df phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:cd1be809-0e1f-4241-a17b-eefea7327035 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:0e21f70c-7621-4df0-95be-86505dacd054 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:677753dc-dba8-4ca6-80f5-12837bce7d93 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b989c4e1-4cb1-473a-9801-d42925c4f739 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:2233ca76-cf92-4c39-bc86-4fcea86131eb phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e5911986-229c-4240-815e-31dd4d374eb8 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:a3a57fb6-058e-48c5-8637-70711a9faaee phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:d7bc6111-134c-43eb-8862-571f33b1fc73 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:7e8f5a93-835f-4949-a94e-366dc3da3daa phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:407f8440-fcd1-488d-a341-6cb879ef8447 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c8cb91d6-aea9-4dc7-9ff5-e3669cd953a1 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:26b60624-7cdf-4bc2-8557-af216e8c41ad phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:0d6475ae-5c6a-46e9-9d9b-c8dc0f4c81d7 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:87c154cd-0be7-4731-a437-9cf7c4ab1129 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:9dc29e56-c964-46fd-b296-f850984141b5 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:10b764a4-f572-4836-8566-ba501ce5a09d phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:d3a03cf5-94bd-428c-b0ff-f2159822e1f9 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:380b5fd7-573b-468f-862b-b4e6a20ad18c phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:20085fbb-d8f7-4a90-ad5f-997942ebe672 phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:cdf28fd1-0665-4ddf-837e-f9d136c4b09f phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:df0df637-0356-4ecd-a6f3-50e8a1a8fbc9 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:976ba860-2620-4e63-9e42-59bcec77755e phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e3d6226b-5660-4ac8-86b0-d700a151f5f7 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:29283439 uuid:74897a21-6dcf-449e-8fdd-08a8497d1faa phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c75564e2-f78f-48ea-a8a3-a633234bf0cb phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:407c9a9a-95d6-457a-a65f-54b007e175b3 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:5c85047f-e7a1-4244-a45d-f095836c870b phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:0edc1cb1-ff60-444b-a735-9e88c43362fa phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:75fafa58-8104-4b67-8658-55b75a978ffa phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f7201e3a-7937-420e-8ce9-7ba1cc7f97bf phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:92998820-f2e1-4ca7-8360-a548eb0134d0 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:1e69611f-77c6-4bbd-9024-992cb63b727a phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:fa82a925-3724-4ef5-80b8-75a49ef85996 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:afa4abb5-8ab7-4026-b094-95d9ae1da618 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:ced0d154-18e6-4988-9bc9-34e1de440355 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:683c7cf2-8607-4549-83a1-081bd2590a14 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:017231f2-2393-44da-9fcd-7adee530d50a phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:3fc9729e-c850-467f-9dfc-4afea35aac45 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c21d85d7-6209-4700-9ea0-567a27660745 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b0f9addb-1077-44f5-828b-74c6fd2f3aeb phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:11ec67a6-0a9a-4685-b8e2-543d48279b1e phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f36d6b7d-6465-4f29-9d1d-d13001e8290f phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:2ba4038a-1748-4908-adf0-5218265e9979 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:1dee96d0-1e3e-463d-9f7e-755150211f63 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:9d2bbe76-04a0-4f18-8b3e-b7880753539c phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:26564d42-a264-4545-a24f-934ffb672be6 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:cb39f76a-cb98-46ec-bc28-b05825425415 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:b1db1d60-5efd-4584-b8c1-e5b089d7cc12 phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:1b1da482-1608-4169-a73b-c77267f95418 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:a0f47792-569c-4214-8c73-a29ef9d31ff9 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:bccfbdae-b158-4ea1-9882-bc080dcc2dd1 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:c382280c-13cc-4011-b011-60637babaf49 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:33c71b2d-c4c3-4ef4-b43f-3318ee3fc62a phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:8c2dd58f-8b10-4799-b7ac-aab01d726979 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:3a9b0267-5154-4094-b818-e3d57252cbc6 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:9b8e23be-47c8-47b0-8887-baa065f12ee6 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:58b4d7db-dcad-4235-99ad-d3af2aff5b91 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:9d8aa380-bdb5-4a11-a5e1-b538ac62626f phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:2ab8736c-f4e7-4305-86f8-b3dbef752713 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:975e4a85-1ebd-46f3-b688-0e591f9269b6 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:9f2885fa-a659-4b80-9921-c60b92a4d792 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a1f16277-c7c0-4941-8712-4be98f9011e3 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d6645d45-ff2a-4846-84e9-183cf8925c20 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0b15c5d3-2fce-4842-b132-289ec520f559 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f6949e57-4802-46a8-b9f0-b3b365f9aa2c phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:57666b1b-64ba-4023-b243-864a4c782ab6 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b19aba5f-2026-446a-ac54-ececc0691184 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a893bb0f-7aea-4ae6-bae9-b57148195c07 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:23e32566-534f-4b94-aa45-770a41783b34 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ef202699-689d-418c-8924-aacc9a8eeb29 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ba904d6d-25a8-4aab-90ad-7b2bffb3ea4f phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0e57cec0-7b06-4a64-9e1f-ee2b154cb6e6 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3aabcfe7-2cc7-4579-a189-8f0fb78572e9 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:acb62f1d-b2d4-43b4-817d-3cb4773e6669 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:79ad1da8-97f8-46e2-bec4-a644293d71b1 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:340c2e84-be05-4080-b741-5467b6303959 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8bba8403-1aa0-466f-b4a5-5720ebf94e38 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bb5a1450-1a99-46b0-9b2c-36beb7be4c49 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:9cf8d034-a22d-44f3-b979-1f581fd46c22 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:7be9f144-3eb6-45ec-aac3-e5507245442c phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5178aae9-b0d3-4983-b9cd-4d75fafdd8ef phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d192a216-1243-4233-9e60-ea3e31f102d2 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c99a5bd4-0023-44e1-850e-5fd4fdb17912 phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:24a0c774-2b0d-436c-924d-3cc6da31d13d phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e305f9fd-ec3b-4ada-8e0f-840adc21946a phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:ff8b0334-fa17-47bd-ad64-49c0206b66cd phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:a5a14639-89ca-4345-ae0c-a68f67ff65ee phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:23095445-4318-4584-9f41-b45ac4a94ada phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:dd791e9d-9d89-4b51-a1c3-9836119cff37 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:29283439 uuid:8d10a42b-3a7c-4961-8902-b349a7fea571 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c5836f3a-7b99-446f-b65b-c6bd713f80a7 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:9621b932-1078-4f30-8d1c-d56b6b0e6249 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f483c9cd-bc92-43a9-a3bc-b32ee1b9a598 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:fb636c2f-86e7-473b-af57-aa9d42b0b7cc phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:16fb9d05-0163-41ae-9f08-2b6ea81b46f5 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:629b3e44-b3c7-45c3-885d-61648adc693a phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:5092f588-c1ab-4cf1-ab7b-9da3c82654ac phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:3f0888e9-17cd-4f5c-9d67-d4800680136a phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:a3e7e8a8-4ff0-47f3-9a4b-48efa1af705c phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b6eb416f-1a2b-4916-bd57-97f6c64f3a86 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:89885fb1-5c39-4608-81ee-c3ae628fd5b4 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:2452d1d3-ca5d-403e-9b50-9df7f8276e23 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:ddfb91f4-56f1-4088-bc6a-664f0536f121 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:23b12ff9-2cd5-45af-99fa-67ee4c4a362d phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:eb6f79cf-2fc1-4634-86f9-871312afc48e phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:da3e4ce1-2471-4368-b871-78ec92d16db9 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:e29ce6a7-f0aa-4641-9199-56b2c4c2e9e5 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:cb2e9c79-6455-42ed-945a-159e8fa99695 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:008243e8-8f63-4539-b81d-7c3cabb0c531 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:53b2e44e-d51d-41ba-bc9a-014d25769211 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:9f58e7cf-1d4b-45d8-abd6-4a5dbf309600 phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:c24f4ab4-b925-425b-b7af-948d56c8d1ab phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:8c5c1e4d-5abf-48a0-8c7b-bb34a181d064 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:30103036 uuid:f9cb9d44-555b-483c-8088-91fa2edd6d64 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:ed8268a8-d42f-4e4c-a735-47e542e65310 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:abbaa52c-99ac-412b-b6d0-745c55e180e8 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:4c6559af-7226-4ec9-941e-5143454dd7f0 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:71e0bc74-de03-4325-9825-0f0cb26090d8 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:9f50ef63-e25b-4892-bcfd-a02cfb2d15e4 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:f9168b7f-df23-427b-bd37-5d42e68ff171 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0100288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:d1a972ed-7be8-4a0e-a940-b4e009ec5a16 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:3bb6aa4b-5e97-47f2-9f34-f652ffa0ed04 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:81bd5701-6293-4f17-b539-d9b3782b62ef phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:d936034a-3345-4970-90f6-5914c06428a3 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:e5fc161b-5149-4fc5-9782-ada9edd685b1 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:17499591-7694-4214-8479-d3ba8d9e6798 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:deedc791-bd31-4aee-b75e-7770d2ab5275 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:3b9ba1fc-41c3-4b2a-b51b-822ded367dbe phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30103036 uuid:417a7f1d-e483-41ef-ac5b-d76e888c58f6 phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30103036 uuid:09dcf8a0-cca1-4ab7-8341-47e672777ff3 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y1M infores:phenopacket-store PMID:27040692 uuid:90a93e46-8814-4efa-931e-665a8efb0ce8 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:0de678fe-c00e-43cd-83f0-09da4cdd5936 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:236cd4b9-298a-4e0a-b08e-384285aec0cf phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:5f066bcb-1ed9-474e-844c-68cae94d03f8 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:9edc8a17-a168-440a-b8c9-255e8c45cb5f phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:5fd8f4ac-a3e6-4d0a-b579-27fedcd36150 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:473c787a-fc95-4a8f-9a51-9789c55ee028 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:c49073f6-2084-4c15-895c-6d9da61f7c7a phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:5e85c16c-8ef0-4ac8-a1e0-ae04ddcbfd8c phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:0b43028c-1bfe-41b8-8903-31c213e2ab79 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:3df32a0e-96db-4d76-a724-c4d7898cefe4 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:4f677550-20ac-4520-b820-4e4b4bec7151 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:85439f37-76fe-4e49-9d93-831f4f4c7542 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:10a66b36-5cbe-416c-a90c-e1c62a7de1cc phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:a0e26162-b3e8-4d77-84b1-f74d3fe08466 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:01ff4ed6-3158-48bd-a7f2-3fd0b2409f63 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:6ebad8a1-9f95-4fc4-9c13-b8eb76b7b576 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:63f860ef-0c56-4ad7-8470-48fad65d4446 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:b9584401-1838-4511-8c75-595c625e30c0 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:1a6406e8-ac93-49a9-926d-5e7b213511c9 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:a5df0e41-67fe-4763-ac35-0be8480cd9e2 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:3373a7e3-dd7f-46d0-9616-9835db260dcf phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:2a36ed02-c65b-43fd-9164-ea2fc6f736fc phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:d0bcca55-0ccc-487a-9f5a-5b286bd76b20 phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:d6280375-1bf8-4243-853b-193f96a4d4ea phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:5741cf7e-0490-424a-8707-cff07c586f5c phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:f29d0cf7-9add-4850-a9b2-fdb27bb3b9a1 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:81e5d651-2e90-407f-a6c0-8b7d0e9d8afa phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:5a0004e3-7716-4f7e-9a6c-41894cfc4bdf phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:10ad7016-464f-4689-9fb7-6af87b2de86c phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:c4710ed5-7cf9-4f18-9a91-f270c9a1c4b8 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:798fceee-196f-40bf-904c-06cc7dbcf7db phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:a92c1189-0bbb-4433-a0d4-ace333cfbb61 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:d8cf6edf-2460-46c6-90b5-6f380a2592f6 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:398d5cce-fe9e-4662-b1d1-d854538aff47 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:fe2703e1-b759-4cd2-82fb-4ed19ce53c92 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:71bc46e1-5f12-43c2-9ed8-b967dae28a2b phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:a282ee4f-3adb-4dd0-82cf-95e482a25691 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36522252 uuid:e28df5a6-b25d-42ab-a3ab-8095f1e3bffc phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:dc592c0c-3c4a-4cc8-aadc-9d334f49839e phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:1669426b-5b09-424d-9f6a-93e06dc58aed phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:6b2dfdc7-8dda-4a2f-ae4c-69e061a71316 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d80ba12f-3917-471f-8067-c6c0ddaaac6c phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:defd051d-36e3-4df1-af48-9fc399e9b641 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:19f3d4f2-7708-4546-9d0a-98831ba5a309 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:f2bf01fe-1587-4796-9a8e-b835eca5d45d phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:d053ac83-df9f-496e-9b44-9499839066cb phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0002058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:ccac54dc-7b53-4756-afb3-693bd89be556 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:1c91bbfb-bb52-4616-a887-008b3c87877a phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:65583667-b170-4701-b2a9-6f6d66184c3b phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:925edc3d-d875-4186-a3e4-2758f72b8069 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:46d537f2-2ff0-4c74-9e4a-7ff2d4858acc phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:4e590579-9ab0-47f6-9188-9ec83917fbb1 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:bb343143-11b0-4d48-8c2f-fb5a5eeae5c9 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:e6b3b22f-cd47-4d88-8fca-58cadd029e75 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:fe526a57-875d-43ec-a46e-5adc478316ea phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:db1f0eab-b05a-4515-8bd4-8757ff09461e phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:5499cbbb-9e04-48f5-bb12-a10b0b0fdd46 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_phenotype HP:0002155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36522252 uuid:9d0c6242-a088-43ec-82e2-3dcabe85e74e phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:36522252 uuid:d2aab46c-e83e-479f-9c1c-5ca53f1d6465 phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36522252 uuid:420c3ee1-f321-431f-83d4-44c53c2e37c6 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:aa29f561-0f7a-4a35-958e-accc95916285 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:bf3f831a-d605-4457-98fb-391bd4c68b5a phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29283439 uuid:b6921fe9-4c70-400f-97c2-7bb782ee1107 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e502a731-045b-4b48-b47a-e0bae92c982b phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:6cf8f36d-4c5e-479d-8e80-3c85a9485ed4 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:956f49ed-2151-4ef3-aa6a-ce11c293b427 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:02ed5984-1820-498b-8f8e-4934a1ca61e8 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c206bcd8-dc99-402b-9b82-f4e03db8f7ad phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8b80a5a3-45d8-4058-8fe0-7f59a7ee43ec phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e238f862-b471-476f-b478-eba3b24235a3 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:bd92811c-2528-409b-a988-6e6462922b5d phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:a96d6b36-4dda-4637-b01a-16266f91e2c7 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c8834d65-a099-49ad-ad04-6f07d043c133 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:9af941bd-fda9-480a-bdce-7a9f117464ae phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8817d1dd-921b-4392-8c5e-1e40e6da95a9 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:461406e6-e05c-452a-9b40-153f3cfa7e32 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:0d40e5a5-5a93-44c7-ae96-35b7525f572b phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:3e779729-ce45-4da7-8073-f0bad4e6d054 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:7c43deae-e4f6-4494-8f7b-8a055f8130c8 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:2f56399c-9e9b-4608-8d67-6546ad1c2bfe phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:fee620af-82c9-41d4-90b2-4651d0af5314 phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:380b6398-3a24-456f-8e5a-c9ff86bfbe4a phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:830cd488-d0cd-478d-adda-2c88fd6b659d phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:f0df81bd-be58-44c8-a699-dc9d3884427d phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:c96c99a6-ea3a-4b61-aaa1-ebcb3ac61920 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:668a4c2d-1b90-42e2-8bfc-71e6a3695208 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:6521888d-a7f8-4f90-918e-5b5f5c189832 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:48ed3a34-1c36-43e5-8b01-c068dead6ac3 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:daf17ba4-d48b-4534-8a54-064b3b9075d9 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:5b149666-5985-42f3-9687-b9529256a67f phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:288cc431-e11d-4301-bb1e-dda3fd290c74 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:34984191-aa8e-44e3-b4f4-b1713199b5fe phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fc64b891-fdf9-41a1-a8cf-255c3f2802bb phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3bcfc150-d3f1-4f57-815d-69ed9e327d44 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:dacb932d-69a9-48c2-bb8b-92963c075a57 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b3e8d1d4-5404-470a-8d48-aa8e34c08feb phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:29b91a0b-fc56-4a0b-a705-e4e8e4624977 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:51be20c1-bcbc-4be5-ad65-864591c225ec phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c5ace081-b5f0-4b2a-a0be-e8d32467ca9f phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:cd8fb5f1-5d9a-4b87-9fcd-9dd9a8503dfa phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:da281fff-5ed7-48bd-bf05-c7d15141da6b phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5ef726f6-6622-4ae2-9942-fca202f8c7e6 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f381192f-3de3-4dfb-9f9f-494ec1080d76 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bb7e4c5a-0e78-48af-8692-c3177dc4ed01 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:05e3352b-bd9c-49f3-8c45-80b89833a0b8 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b8b712f6-8680-4cf0-9bb7-ef2b1cf9eac8 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:03e97099-6d29-4e0c-b097-0e4ffaf92551 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e9b9e385-3368-40f5-b85e-e1ffc9be0e79 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2cc11c50-51e9-4bd9-bce5-3deac3018ec0 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c5717784-2623-4b63-98b6-e381db037be5 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3219d62e-c542-4ca8-a558-446dcf1134b9 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:225add1a-54c6-41a2-b956-38edae6063ae phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a2b25c1f-d8b4-439f-ab2e-fa5e5fb7fed9 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ee8581e7-3150-44c2-95f5-63ba3116ca71 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:65f02de0-c26b-44e2-987c-79fc6696e7c8 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c665ec79-32dc-4a79-8518-5e94fe7ef477 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:149e2ac5-4721-4af2-8f8f-4e12f4774c57 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:40849827-01ed-4262-a0d4-0fe0d7455299 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f22b7083-df81-4bc1-94e6-5ade1dacae2b phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:66aeb797-a03a-48fc-9975-e5f3e62dec8e phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:eeb530e0-aab2-460a-ad4f-be8d1155e630 phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:e90f54f8-3e97-4501-8797-07bba84c4cfd phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:32363625 uuid:911ebaf4-ff6b-472f-a6e5-a6cf131cabdc phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:32363625 uuid:09843a98-e3ff-45ce-a6d5-28b5df73b5d9 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:bc100fe6-0e9f-40d4-ae50-fa8ad09f88f2 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:ce51295b-c6e6-47d4-8f36-eece793965ad phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:6f10d0c2-5dca-424d-9d01-de4f0514188c phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:9ed84c1f-bd58-45f5-a6a1-8c42f85a3c8d phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:f4290e28-cee7-4ccb-ba25-8694a21b4164 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:86f32e22-63a4-4ef3-b398-e9efc9d1d598 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:05d02966-78a4-40bd-846e-b9da74b7b53e phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:e7efde25-c3d4-49dd-a96a-26a037bd5e9e phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:28d7fee8-1d44-4de5-9e74-376495805ea8 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:47821c1d-ab32-494b-823d-ab439f48341e phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:fe97103d-3b2b-44f0-8fce-47bc1471daff phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:3e5ed728-f013-4722-be03-16b643cb715a phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:1b691c3d-0235-4e09-94c3-026cc1cf296c phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:b647e068-a25e-4609-babd-c65f07d2bcc6 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:29733b69-ec58-4f9b-a54f-c90562da6743 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:c8d14dc2-222f-4845-b07c-51405b8b9d03 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:ce3a5208-038b-4eaa-b356-4a125725d7fe phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:ecb1fae0-6572-4a42-89a5-c1505810eec8 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:20fcd48b-17c6-4a4c-9e1a-63a5fd944288 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:80d86a53-328d-45ab-8b87-b79a79a88fe8 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32363625 uuid:7470ebd9-8965-4b5b-ac62-d7238cf997f3 phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32363625 uuid:21e836fe-08e8-4bcb-9c49-04b9b82fe829 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:bf7c7c24-e613-4fd3-b88d-f3929928a5cb phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:aabd74fa-76ee-478c-a2e4-60b92ba508e5 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:58a35264-8d99-4c3f-95ef-e1c54437f24c phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:210892c3-2bfb-4c56-9bdc-3a1520f3208c phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:6d13a60d-157d-4ebc-9803-1c7a6ff5de79 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:877560ae-34c9-4629-8a6b-25053cfdacdb phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:49b1c913-886b-4d1e-a638-4194c3536a15 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:449e1180-33cc-4523-887f-1943ebad9196 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30103036 uuid:fb42a903-1264-4559-b82b-26502fd9f686 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:1424e43b-56e4-46f1-880a-8bf38ef39356 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:0b2b8721-18e1-4451-a034-4e71d35c2300 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:2b77bb78-d1d0-4fad-bbce-9a752ecef3a3 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0100288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:853d9b0f-68d8-4e3c-bbce-245902a7e117 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:859aec74-2c8d-4f4e-8e7f-3b4c69d345e9 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30103036 uuid:43908dcb-52d8-4ecd-b599-406c1d736293 phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30103036 uuid:bbdc6804-60fe-4a15-848a-a4ed81acef8c phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30103036 uuid:75c6a608-4f3e-4d2c-a425-6c624336f598 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:997e279f-5976-43c1-9853-8f2830987053 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b40ca4df-38b2-4ca8-b85a-b4e5bef17844 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29283439 uuid:185d5e34-74a8-420c-b9b0-d2b482d063c4 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:bce27f59-88ce-4911-8122-d286eb06b0df phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:5aead6ae-97e3-44e0-a13f-facef2edfb0b phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:6dc21a9e-8334-4e26-b8d6-501fc4fd2d50 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e612f128-5402-4002-8e66-a7c0b76792e6 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:742ea1a6-91f6-4898-acc9-cd83029cb0f9 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e7f9ded1-cc1a-4f22-8305-e947f23a4881 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:fb26c075-db6f-4d34-abeb-34e00652eb3b phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:00e70a53-98dc-4374-9002-382ef4072b70 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:a0c74369-7a07-4bb3-a7f2-23c0480e41a5 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:c1e3fe36-67cb-4ed3-8f68-6d83a670e925 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f6282ee6-93f4-4f6f-a91a-eb0106ee6b3c phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:9e8b0268-1bcb-4a7c-ae8b-821735d358cc phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8aeb2b77-f571-4c35-b586-f6c6e7a85833 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:70786216-4742-4738-b84d-aef6800247f6 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:38840312-b3f2-4739-8016-7e99670b3ecf phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8663ffd1-f168-4c76-bd83-efd34ec2f4ed phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b982b22d-b977-4939-b340-a5ed546ce55f phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0033383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:54335ef5-f0e5-4df4-af33-35587caa643f phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0003444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8d0f2048-133d-4d11-a65a-ffc33302b3a9 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:476ea847-71bd-4e85-a22f-78f1ac15b797 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:bfd7e00d-1107-49d7-ab87-20d133521df7 phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:23adf610-5cea-45a4-894a-3ed0bd5e936a phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:44725607-b760-4667-8d79-f4d5570382ff phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:058aecd7-2aed-42d7-84b0-3fc7a4251751 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:cb073163-f5fd-4870-9fe9-552d898945f7 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:ca0f0382-e321-427e-90a9-cb3390702e5b phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:29283439 uuid:a70f55f9-6096-4f27-8ac3-f913338f5632 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:59a68927-8cd3-4cf2-bc4a-c9b3fbb0a081 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:fc0d3420-07bf-44f8-b5b1-f7c19d36f6d2 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:e1aeb1f6-8976-4758-8f9c-1679b9d0f5c5 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0030890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:caa6fd3c-2394-4faa-bff1-dfe87f6d05c1 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:8bdfb0f7-225f-45a1-8717-4aa65d9548d9 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0003693 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:193e5014-2c76-4775-b188-37394ade70cd phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:b51b1c0d-1967-48cf-9c2a-84228bdb8c64 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0002187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f3e8d35a-c169-4f47-9027-e1f92fa1ac71 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:f313a1ef-ffd4-46f1-872c-63d4ed3c6774 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0010884 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29283439 uuid:950027f6-0296-4e0e-b2dc-e221897bad5d phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:60964621-2690-4e4e-95d6-624f077ed60b phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:fc3ec9d0-3244-4f39-b642-782691c72a7f phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0001338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:2b501273-34e8-47c5-92b8-19bd2bf54e6d phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:307d6699-5d4a-4673-b2a6-62ad057e4832 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:86fdee27-343b-462d-b1e2-e92fdd28b962 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:769924af-e1b5-4eae-a0d9-d23e99172a67 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:e68b4e40-c720-4bfe-b8d9-78467a1d313a phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:07e83be5-a5ca-477d-ad38-60ed9b4e376b phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:3fcc2f44-9f80-4f0e-894a-7224e3cdacf5 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0005964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:f707cf3e-291f-4b63-bcd3-a15be642e645 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_phenotype HP:0010841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29283439 uuid:5260351a-4429-4f7f-b0e8-90808f1f1d37 phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:6048de86-9d02-48d4-8466-61bcd2a9093e phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29283439 uuid:88aef0a0-e046-4855-af88-963a63c17f24 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0008180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:ece2c96a-c347-478e-beab-6ed5cdc9f3e4 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:32363625 uuid:f471b550-644e-4e64-9d0a-0573bbcc5684 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:3d68ea05-44b6-4507-bbd1-d3fcc728a995 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:4a2b01cd-085b-49d8-90a3-3405e1f42157 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:610db96c-437b-4849-932f-011daf7661d6 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:0b5ccaa2-50b3-46fd-b391-a130881bf5cc phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:114a9fdb-afd5-4112-92ad-32c6204436b8 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:ac5d245b-f1f5-48e5-aafa-4086780cb8ab phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:9ebbd148-f602-4091-8254-2fb8d9ce4475 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0003690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:48de9b4a-6e28-44c4-a788-ebb39052c7c5 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0003327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:19f0967b-904a-4548-95c4-d6201ba08b5c phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32363625 uuid:574087c4-706b-438d-a632-3014fe9ede6d phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:d848a025-ce19-437b-a362-f23b22809f20 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:7f5e8013-9a26-43a7-90a6-cb6e80b7eb19 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:a2d553c4-9ea2-4357-80cb-eb5b457da6ff phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:2a2e5857-be1b-4f4c-b40e-3133993258f1 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:13cc2d32-cdbb-44a0-9570-7256621564a7 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:9bb27ee9-480c-4717-ad0c-3e3493e2156d phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:1d5f1d58-2b21-4944-8225-0cb6277e7947 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32363625 uuid:e689c36e-4dd9-4beb-8c62-a66fd1c68d86 phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32363625 uuid:78ecae42-464c-4de5-8165-1229ab2b9a1b phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32363625 uuid:41bb6b7b-ae75-4c71-b91d-d32aff5ba2ff phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:9e11bbc4-09bf-4f13-b718-68e6336cab6a phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:8521d7a9-7808-4331-a22f-d1d3efa58677 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:a288acfa-ff7b-4167-a41f-9228d52798fb phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:373e1f16-cf2d-4cb9-b12b-02a9379feca9 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:56519539-2336-47a7-a5ff-5a9f5f597aff phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:747ee2dd-ed6a-493c-9b03-fe21ae99bf99 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e9717c63-2634-4a1e-a36d-c448fb054e5d phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:da8b834d-be2b-490c-9e9d-35ebcbba9240 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1763f2a8-3b77-48b7-b4de-68340b16587c phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6b4f42e7-8d4d-4f43-8fe6-95fa409f1bd9 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2aaea6c2-f322-472f-88ab-e7a6a3d70867 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:505b31c5-3baf-48ea-a345-69047efb1266 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d1ff1a5a-3511-4210-a6ba-54c8d1cae215 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:35b29d10-f79d-49c3-b706-64410494c2cf phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bd68335c-3c7b-41fe-a6dc-8092f2bf346a phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:859443fc-bc3f-4e58-b08f-51cfcd67bfe0 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ec874788-6def-4a32-9b25-05279ca9b3e0 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:400af12f-1cb9-4b64-9b09-bf96cfbc0e21 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:317cb88a-ffb9-4c05-ac5c-718e6a2ea5f4 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b7e39b6e-9987-4e63-ba2a-61f187c7abed phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:56086ca0-38ed-408f-9d80-fba0e9f62215 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8bfe98fc-2c86-4a6f-8a1a-0517f257a595 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5cdd1638-7fdd-4c3c-930c-4040003b38a5 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f836017b-0c9f-4384-8f69-e11d2e7d2717 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:9af2ee01-d601-40b0-b278-95eb48bb698a phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5550a3d6-a728-46de-aac7-0e03f3c90c54 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:700b073e-c1a8-45cb-8bd5-e6e8b7b04004 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:9cbea437-e064-40e6-b731-c441b0f6cb3a phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:168ea426-7efe-46ce-9cbf-259ea6c015b8 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8d8f3bf2-5bf0-4042-bdb5-94fc5930a436 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:dd6540b5-9418-4ab9-926c-3237661f8096 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f9357c04-488a-4872-9068-634d17ac8b8a phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6031890b-dfa1-479e-abd9-06a59411b340 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:03a5f3f2-1186-437e-b7e3-c4623f6a3f82 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:410781ff-ebbd-4379-873c-7e3e7999e231 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:99760a5f-303d-43a8-8242-520e9149829a phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bdac6e99-2911-4544-917c-d758df59b417 phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:4f261f3b-287b-4ffe-8447-ce1ab88afcde phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:91d03e66-de16-43ee-8097-a8d946c722df phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:fa3bd94e-94d4-4132-b246-123b2a661c9b phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:695c9332-4d4e-4111-96fa-90cc96d39f06 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:90ee3eb3-8aea-4063-b7d0-9a615288f975 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:9057c519-f145-4206-aa2b-39f9c96f208a phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:f00db2a9-761c-44f6-b6be-ea81636d3947 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:a7ed8202-7741-48f7-b213-78c68b10cbeb phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:de535652-2758-475d-a0d6-1a69a714dd5d phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:c08d7606-8b1a-4872-b25b-f973a102eb65 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:f1bc0913-0b30-4771-a883-4993bda85ffb phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:ce93b034-7081-42d9-a86b-27d292c84cdd phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:1753c968-b604-4a61-bd26-e4f98e85cbbe phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040692 uuid:c127850d-8574-4395-8fa8-f5903c8badf6 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:94d71ca2-d32a-4c1f-829c-e0b1418198f9 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:5c59814b-7aec-4055-9f18-ce0c7148a0c4 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:5eadc3b3-8ee0-4e4b-9ac6-9470c591c830 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:a6349192-a309-4f76-a5ba-52d78244a289 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:eba1c0f8-d6bf-418a-8bc0-437a0b1ef3c3 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:1b11da88-c428-437f-9486-d99acf4a1056 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:86db26ab-2d30-4312-b936-4c29c63dda8c phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:7aa4ad6f-d860-4cc6-aa31-31e5e48f7227 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:785dc624-310c-4e1d-81b6-02460cba1290 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:cad6c77a-c1f9-4f6a-9e5a-e2017ee5a225 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040692 uuid:3422ab51-3256-488d-831a-4327a3e36ee9 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:f99f9b0a-fbf7-4123-85f2-dea330b029c7 phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040692 uuid:851ff80f-279a-4322-bd3a-0407031dd4f1 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:5a5041e4-7e43-48e7-b529-b95e46378fbf phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:17eef5db-183c-4c5b-a5a4-c31b70566cf6 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:60a0013c-0b36-479f-92d9-504760f1bd61 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:0f4f27be-c10d-4c0b-b6b1-ae2d9c25b755 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:aafa1110-ed8b-48b6-aba8-2f06db4cb379 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e188f011-c8b1-49a2-80e6-f13e4b596b5b phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:db30200c-6799-4ed9-ae5e-92a5611b3ffc phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0450bebc-7ed8-41dd-85b1-231b112c9b9b phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3f69580d-b1f0-4241-a929-8ac94011a5a0 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e6cf9233-8ca6-4a07-808d-a401f0844897 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d0a7b5c0-9157-471a-8069-a77ce09523a0 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:52d971a4-7910-4b07-9c66-832119cebf39 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4f6f386e-6e81-41fb-99ff-25b0a2aa65b2 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:bcca1e21-5b91-406b-8718-f4982f70ba41 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0740d9c5-66c7-455d-84d6-924e879e040b phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:47293329-d124-4aaf-b1fe-5185107ea9a4 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5b50bae5-7a19-41d5-b793-c32e4e98261e phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:18f97e83-d478-47ba-9fc8-2727f16f978e phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1072212c-d784-4be6-b452-2087cc337157 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:58341ac8-c67b-4e88-81a5-008880cbd6b3 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ced7687e-7458-41ea-a468-7bc782a061e7 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:2aaeda17-21ee-4082-a5ac-521a272ecc63 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:18bc6aaa-8df2-4e1a-b16c-99e4812be84f phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:acd61ce3-5889-4924-b291-5f547861dc7c phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8d952f9c-6c24-4562-b756-801e87479063 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:19c7d846-7508-4972-a058-a8b4358b1316 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e451f10d-735c-4941-a151-7248e3a709dd phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0cf5eb6f-1005-4968-a342-48f9ea1d820e phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ec50b551-952f-4a56-b435-5fba77c50a18 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8e767605-def9-4ab7-b582-0001f76bb7ec phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:70780d0e-8490-4ce2-b65e-4dbd5bd4e351 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:cce6b97e-92e0-4f94-b70d-8ad39f5efeba phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:74ad2f7e-4fff-4639-9419-0e30a5c62769 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4dc7f893-9bd5-4b1b-ada2-4ad8c5652fea phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0bebde4f-0ef1-4237-9c1d-5173fb87a349 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:2461ee7f-231c-44cb-9ee4-4fa3fe1955d5 phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:1c5b4950-ef90-403a-963a-765178b27330 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b99f148f-7945-41c8-8bbf-804224a7bf94 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:95f1dbc1-3762-4aba-8972-a60183185ef0 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:f589821a-92d0-415a-818e-8c615068c5d4 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:5cf0d0a0-0569-42a6-a75b-574a4e7ad93b phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:65c873aa-4877-442c-b7a2-25f4fc9ab00f phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:d72de6ef-b94a-426c-a278-4209977b33a0 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b8dc28dc-908a-48aa-8bb9-1aefdf91d357 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:e3a606ab-d1d7-43b7-8514-b05a73e60554 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f0832805-782b-40fa-a674-41d9d0edc1af phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:da8b1c8c-e2a3-40fa-86f7-b2bbcc429e7d phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d1190d41-edb4-45a9-baa6-6a6b281a7d5b phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fe4e2a36-1686-4773-b933-7eb3c5512884 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ad670e7d-f36b-4234-b880-649657130c34 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:58b5cd2e-b88c-48e1-96bd-15a9787f8e95 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5506e749-47d9-40a8-adef-96443bccafeb phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:51824837-9a08-4ddb-8182-9c448d58d339 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a375f6cb-4f30-4f5f-bb03-e0e599aa951a phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:350e59c0-c740-4d8d-ba95-d5ead4cd7bdd phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f4c9b30b-e4b5-48f6-b10f-eff9921c533b phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:5b3495fe-2e71-47f9-a66b-da135ebf5f24 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8f4f676f-7514-447c-a4f2-11dbade3a9ff phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fb40298a-78ab-4e40-978e-22b06be98a89 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c113bd27-827a-489a-91b7-00c3fa774bad phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:87c87960-8f09-4938-88b4-bb831fa65cdf phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fc51ff18-c38c-4dc1-aa95-a01b266b1c39 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:412fb596-ac24-467f-9352-ad2f329017e2 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:362363cc-6cb1-4d9b-8fa6-8d2893ade940 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e36a78b6-d598-41fe-8625-bddf8f67f9d6 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:539840dc-be72-4990-bd93-eb5a502132ec phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:66b5586e-6d48-48f8-a9fd-ecb993d999fe phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:4720b761-1290-4d0b-9bb9-a53901eaba35 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:ded414a0-bc6a-4388-a17f-b51778f36ebf phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:885648ec-525f-4d30-bd12-a13f5662af0d phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f5d07757-9039-47b3-b507-960be73dbd3a phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a5e6e261-240a-4058-95a0-c93c8ba8e956 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:daf7795e-caea-4988-bb78-5915d135b5f5 phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fd8d1fd2-5acb-4066-87a8-b7b7fcc4086f phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:022706dd-266c-49b7-ba2f-c43e2c1baa6c phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:f37043e0-bf1e-4e7d-8015-ae48d96ccbcf phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:30dd2f45-3751-44ed-bb93-3b070342cdb2 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:d175534b-3433-4722-a293-e0134e0ec352 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:467e45c7-994a-4055-9ef7-7afed17189e4 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b087603b-ab07-456c-b0c8-21fc86081fbe phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:b7b258fc-3b7f-4588-bff5-b509a2ec520e phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:7c76ac93-3c6a-432d-a894-d61d4fa0e7e5 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:8e56b72c-4cf3-425b-9dcd-cb6a8e3a7483 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27040691 uuid:4da22d95-9941-4428-917c-fdba8dad7695 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fe291d07-6c2e-483a-ad29-cb406ac676d2 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8faa4c58-9536-4b62-9d97-ffd2478f189c phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e0764fa6-db0d-4a25-944c-cdeecc7c1eb4 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:3b1e8fdc-4160-4f1e-99d1-b8ebd4f2ff76 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:db600494-1b73-441f-9491-34259278a541 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:b56ab47d-a7e8-4110-a2c3-e351acc662b0 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fa3b7888-90eb-4402-aa6f-79696188839f phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1fed31a4-0069-4afa-a708-c85df57354e6 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a45ea7d6-658e-4fdb-aa07-c3a06592b382 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fe5fb762-ace9-4bd5-8a92-6814b1ffc40b phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:d441083b-2faa-408c-aeb1-610617a340c7 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e417dbf2-91fd-4baa-81c6-fb8229b25901 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:336b3960-be85-44bd-9f4c-6d73b2d4cabb phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:975d10b4-892b-44de-9031-d5bdd0997ab0 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:e0d71c12-0316-482e-825f-30265929bb76 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:8f62ceb7-04de-46e8-ac28-be3673f57ade phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:a0290f33-b6b6-4aa9-b562-70353eb7cd3a phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:626bb351-27cf-4589-be1f-b3632a83705c phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0007957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:c9caff86-1bf6-4cf6-996a-400481c79361 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:1d2088d0-c611-446f-97bf-3346b7b4487a phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:37913dc7-9dc3-492a-945e-83330e2225bb phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0002283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6c1fb2ad-a65e-436e-95e8-4605e48fcbbc phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:185f4bdc-264d-4eee-b017-28abbb71aa3c phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:6dd47a83-b822-4652-9c46-4b784ec73d3d phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:11bd2879-a75f-4146-b7ab-7479b000324c phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:f1304b25-33d3-4eb7-b5d6-9463c7488062 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:eb40a273-48a5-40bf-8e0d-42dbe35f7e8a phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:9c2fc417-5f23-4f51-84b4-155a6747d707 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:0df8fea9-3e15-40a3-b206-16948e811a40 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27040691 uuid:fb3f4f3e-30dc-4a45-a03b-8256e84852ff phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_disease OMIM:616900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:34a99921-e62d-4805-be1e-ac6ab7470f49 phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:has_gene HGNC:28261 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27040691 uuid:b2953972-f176-4e1c-b04c-1f990aea2011 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:038d6cc1-c188-4092-bb90-bc54ef82ba36 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y9M infores:phenopacket-store PMID:34363755 uuid:b2437631-7c55-471a-a242-6a825f48b38b phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:4643514d-9ae0-47a3-a077-5801657d61ad phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:b5790d47-79b2-4100-991b-3eb412642465 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:9d756bef-67d9-4f25-8402-2873e7377d0c phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:34f40ee2-cdef-4e87-8ea1-0b4a1a47f00f phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:c9817b63-2f12-4ac8-8a2e-a3fc86388285 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0011123 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:b97e817f-7694-45da-b382-833f46789fd0 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:9663a447-d5be-4ad7-871f-cdb97696ab04 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:d6cb38b1-c213-4298-ab8b-fa9d26251be0 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0012444 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:c7b24338-aa9b-4cc0-a819-1eb520d24821 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:af5aa3d3-0fce-496c-9ef2-9dab07e97c5f phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:f519a7a3-38f3-4836-9a0c-939453e9c043 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:ef52ba94-9398-49bb-a4dd-ab06b107071c phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:7c80583e-27ad-4864-a3a2-bec36ab11fa5 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:3cf7a332-3458-404c-88a1-6e2b740f036f phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:9cc6b931-9531-4023-9e6d-55fda53514a2 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:c24084bd-8b70-48d5-b5a6-4ea83c7ac4ed phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0003271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:d72e8641-b684-4435-9e06-6252d2c44420 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:817e0a56-2ea1-4209-88c1-c2a51be10436 phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:c0fc1507-85d9-4554-9093-6997773601eb phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_disease OMIM:620880 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:9b6ee0a4-d781-4072-9057-a5295ef7f6ac phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:has_gene HGNC:11584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:6cdc056a-3690-4c7f-a015-8e5971224d3a phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:34363755 uuid:5b85685c-b542-4b82-b2ed-3c5768554555 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:280fa7bf-4328-4ed3-a430-5cd3d976b897 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:66b5cc44-55e1-410d-b6ea-ffa11337c68c phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:41fdb7e4-3195-4459-aec3-46891327cbda phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:5b2dc568-23d5-427c-9150-01295f9ca4b5 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:e5227aa8-9b86-4230-a681-6e1de4ad7db4 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:60cdeeb8-642a-42b9-8eef-a9d80c49222d phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:89bd2491-9093-413f-b4f0-4e91b71672ca phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:b82cbe53-893b-442a-8429-ec0caeb80b17 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:e5f20ae3-9f9a-49f1-b2b4-ef2ed053d93a phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:109b1ed7-d58d-4ef8-b99b-ab4b6a5dc9a0 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:02b63eb8-974d-4c67-a18b-53618cae1e31 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:29e8d29b-08ff-4cca-9ef3-fd047df40b2c phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:d96ee13e-15c7-4f6c-8d64-7818a007d08b phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:78c283f5-9343-4c7f-b218-cc6100803c8e phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:0fea1eef-53ad-49b1-a5c3-45b02385458e phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:18b2fa45-ee02-471d-939e-2d1c2ac64368 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0003271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:ae068e58-03d2-4afa-98e2-83a3d213fc59 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:96f67491-f88d-4dbc-8b4e-f695121e24c3 phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_disease OMIM:620880 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:34363755 uuid:9880ac92-4aa9-4d9e-a572-0fd3d6c3290f phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:has_gene HGNC:11584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:093fa705-0c9e-4998-a8d2-e0cb1b3a3534 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:a308fb12-a60c-4e5b-a45d-e78ea58cb80b phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:43466cfa-7512-45e4-8b07-d9d52fa8706a phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:4000054 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:50658d9e-72c0-426d-9c83-d393a42c709c phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:34363755 uuid:54822833-5bb4-42ab-9a69-527b5a41ccef phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002754 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:34363755 uuid:6aed6b2a-03bc-4cbf-b0f3-33800c947969 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:bad5e6cb-0660-4fba-8af1-9bc864455257 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0025722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:34363755 uuid:c2c6934d-e37f-4a6d-9d6c-30f764d7deb5 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:6f469055-d38e-411d-af60-8b54719258d9 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:cf0bb558-a75b-40fe-8061-a3b0e7d6d9c2 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:aecc7c20-660c-4f88-a59c-76ef2c2a0f1f phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:37c0d37c-2c8d-474c-9086-19d241acbe8d phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:01b8ec13-58d7-4de3-8920-cbb37a731425 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:11ab4ebc-c985-434a-b4cf-67c631814c0b phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:4cc535bc-e076-44f7-9c08-f0a432c6afe9 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:16125d0e-9c81-4183-8651-597f846623ea phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:49c8e853-bd45-47e2-b2a4-dbeb2310c3ee phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:95e7355a-cc81-462b-98c9-047d73980545 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0011108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:367fc405-471b-4730-8f95-2e43e3f91c44 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:bee1606a-26d8-4c0b-a6e1-b1290206fe19 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:9eab730f-3384-4c84-8ce9-8a226da9676e phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:582262f5-17b7-4ab3-b1de-f82ec2171077 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:4c66c8c1-2ac9-4ca1-ae4c-78ee63e4cef5 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:59e167d3-2be0-4a70-99f4-1483cc31c11b phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0003271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:734b0961-ad4e-45bc-b4b2-7f1e1f118267 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:918244af-b5f5-4601-a672-2c75b204db3c phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:5bcc8253-e5b5-4f77-b05c-86d2e37149f1 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_phenotype HP:0012302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:9ea60de6-9c65-4e14-9b83-8c7d205199e9 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_disease OMIM:620880 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:8280649d-1503-4c00-94c5-2bd6fda110db phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:has_gene HGNC:11584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:3a64286e-d5e5-4185-a051-d6158a9fa3e7 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:9cad4f6b-0fa2-4201-84ef-f8b6c4dae1aa phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:ef6f5ed1-8a8c-4c55-b2c1-196673b6d4c4 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:34363755 uuid:483f985e-dcc0-44e4-810e-334eef23041d phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0200029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:34363755 uuid:47aa192a-0adc-4d47-94f5-41049ce01530 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0034786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:34363755 uuid:868e87a1-91a5-4d21-a44a-a291022ecb56 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:7a8375d9-ae8a-47a8-b84b-f440bcd47c6e phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:fea7e553-e183-41d2-b51e-80c0369497e4 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:b0a85edb-df3a-40c2-900f-f8eb1f71ad43 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:335926a2-bad3-4d90-acb6-cdd21d4c6124 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0008873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:eb209eef-2d77-45b4-ba87-08d6482d5d5c phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0011110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:7b033b86-214a-4c9b-8e50-642d5354b7f5 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0002960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:018ae199-d4cd-43aa-9732-87874cfd2926 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0002027 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34363755 uuid:f33f6117-8d05-488d-bb4f-defd4e7a692f phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:f7c9f580-93cf-47af-8f14-4f45ea92cb54 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0001894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:b6ce2b79-33ba-44d1-adab-0fa5cce731a4 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0002608 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:894b210e-bba2-4554-9aaf-def3860b0d21 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0000509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:cee653c9-2749-4356-a0d9-36b59a5b0d8e phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:e7744d8b-e8af-4171-bd43-ef80a690612f phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0003271 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:41a4381c-93d5-4066-a360-1c7a2ab5bc06 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_phenotype HP:0011473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34363755 uuid:93dad1ce-b415-46f6-ba59-d59ec4c2946f phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_disease OMIM:620880 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:34f83f65-526d-42af-9ae1-764a34ad4326 phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:has_gene HGNC:11584 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34363755 uuid:267a3a46-83aa-4c31-a3c6-552cd9efb1ec phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:df581411-0964-46db-a600-4ad0d1061419 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0012450 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:2f9fc154-bb78-4c8d-845a-477def5e2e05 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:6c230636-1f73-42f1-8d24-783fca00456d phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:28687524 uuid:8da28b04-b0fd-4e01-9f1a-f3026b24036d phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:e3a16d8d-1a04-4d9d-9819-f20b954bfb74 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:ccde2a91-48a1-4e8e-b1e8-3391852cacef phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0002000 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:9d484bfe-75b5-47dc-bbaa-d11859b3192d phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:1b7dc932-d520-4bbc-b518-df28756f5610 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:60e36c0c-c360-4707-b399-bf6c373a6cf2 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:0b2af95d-2dd2-4f18-bf84-163d85ebbdd4 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:ffcdca73-c225-49c8-9dbe-f7f3f3df3738 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:5201016 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:3bb3523e-ed21-404f-9b5f-68b22fd3e924 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:66e4a668-da40-41f9-9aeb-64a3c9559867 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:b76df711-05f3-4f05-bad6-0b5d839c4aba phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:079efd5a-6fa9-4f7c-998a-ca33f6b17f4a phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:8c3951c6-8c39-4671-96e2-4e3a79252a05 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:383290b9-7a86-46e0-ae38-c6cea70ac089 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:5136a832-18bb-44cb-83a3-0c799a4606a9 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:d50be5df-0083-407d-8f26-287e2d8f6533 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:85f8ea52-da92-46cc-88a7-69f38159c655 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0001883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:1586cd01-ee36-4c64-882e-bd2ab005659f phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:c60a596d-ca94-4c38-8af2-ba1c87e5b57e phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_phenotype HP:0005562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28687524 uuid:38eaf8f9-f5c5-4503-9035-45838773d4d8 phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_disease OMIM:602342 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28687524 uuid:37c309f8-47cf-4dc8-97ed-6a820749f9fa phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:has_gene HGNC:29529 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28687524 uuid:ce462250-1b5e-4a50-8239-5d8cee591b8a phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:77330f20-efa6-4897-a00b-6cd8f7beba00 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:d789ca4f-4e69-4773-9d86-bc280c7787a4 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:1d2f8dc5-8818-4be4-b40b-d59d15c376d0 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:9fa539a5-ea9d-44d9-b80d-be41a0f5e91e phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:1392ba61-2dc2-4220-bdd7-b1262e24bb28 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:65509ca2-958e-43d2-a066-e67b3e5c76d1 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:af32a659-b921-47fc-8495-c0b92172e619 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:d0f1ff04-c89e-4956-8a21-1959b873a690 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:c30a1784-3ebf-4379-ac8c-b3d2780db675 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:281e83fa-20e5-4b34-9e14-f6aa939ecacd phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:8692d27f-2043-452a-b7b3-cf0776d3ab63 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:01ce99ef-1275-4ed1-b851-532690060f55 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:8d1eddd5-0578-404c-ad15-8f938b0cf414 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:91df7285-08d1-40ac-8525-06d36c54be54 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:366e8601-16cd-4064-9b40-140d2b01fa13 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:15bffe5d-8d6a-474a-b0ec-5b7e5d712b46 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:ebd5653e-83e4-4802-91b9-8593f35b7a0f phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:d3993a45-0d96-4dec-908c-04c4c175ba21 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:23544dda-7e83-4b4b-8734-c438937fcd0c phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:599687b6-8b1e-4e79-a761-fe2032f7e9e5 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:bb594536-7155-411a-86de-70c3f2cf9102 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:a549a1ab-0dbe-4395-82d8-1cbd2a6ee7cd phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:82683a02-0786-463c-8878-1b53f354a521 phenopacket.store:TBX1.PMID_32110744_III_A biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:98f4f61a-bb2f-40de-8f2b-a2fe794d0133 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30137364 uuid:04de13ec-c78e-4b6f-ba6f-99265e5c2327 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30137364 uuid:d8d65487-b7bb-45af-a031-75afc7c9a754 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30137364 uuid:35e8bf68-37d7-40e4-b554-1438bd432163 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:b38277e0-077e-40ea-a8ef-4dbdd703b2e7 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:cc00fd11-f9cf-45f2-b5bb-865814bd263a phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:b515e927-4dba-4d83-8674-8bb7b319f4b3 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:cb55fdee-24d1-4afb-82fe-8c19063fb450 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30137364 uuid:339a4574-c3cc-490a-a3ad-f52f2c368981 phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30137364 uuid:fb6221d5-8d7d-49c5-8f3f-6710e335d4f4 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:5bee7828-7c47-4fe0-ae90-92a4b5ca61a4 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:d9ad3a2b-b097-4904-93ea-80346233a6c1 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:7200526c-520e-4163-aa7c-2cc6a012ce21 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:8f0b6dd3-a7e3-4296-a87c-835eab24c19a phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:79ce957e-c652-4e7e-9b58-734558e54d50 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:51207231-f07c-4a17-be71-937d9a35a5d1 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:ca27b61a-3428-461b-97c9-2d44d3178983 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:36295756-34ba-4617-9ce4-b4fbfb151a43 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:d2961ceb-c033-44c5-bab9-c7e0c8f25fd8 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:6ce214f0-56d4-4b90-a666-8896f4c660a3 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:d19a2d57-d6dd-4b2a-b99b-2577aaa186f6 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:5347992d-562a-486a-9b90-bbeab5e140fa phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:64daeb06-a77e-4da9-8785-83e48b8438a9 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:73dcf4ca-4017-4f3c-8530-d941769724ff phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:14777402-5743-4e0a-983e-ee34294408a2 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:6adf9723-725f-4c9a-8b98-5fdcaf556694 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:4a20ecf1-525c-45b8-8104-b0095870f5cb phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:4e4e6952-bbf5-4ffa-863a-297fe99379b1 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:f3a408d0-a56f-4774-97cb-7deb518a43bc phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:4cb1e9cd-f47b-4a6b-af64-b274549c1ccc phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:763c6458-0087-4f9d-b40f-7ad469e9ff08 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:c98fcf9e-544c-4e89-927a-dce826380823 phenopacket.store:TBX1.PMID_24637876_II_2 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:58bd6ec3-2c5a-4b08-bfb9-5eff38f36a13 phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:d803d33d-3f9c-4364-a4ff-db9c0998e3c8 phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:867d5c01-5737-4eed-bb1e-a6969bfbaf60 phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:41d4d5bf-2b1f-4d9f-a5ef-fa572a61a934 phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:f796be2d-05b7-4862-ae80-c489e1b28581 phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:36c07348-6341-4f0e-92c6-6447df5f5997 phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16684884 uuid:c9740a09-3826-47a3-9a36-eedc22cde75e phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16684884 uuid:8d296e70-81c3-465d-9633-35c2dc90868a phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11748311 uuid:7dd43034-3aaa-4b28-9d99-7239ba308d77 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11748311 uuid:19ed1f5d-b42f-49bc-84a1-0be44beda0f9 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11748311 uuid:09575284-94a1-4413-9e58-083cd5edf005 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11748311 uuid:61206379-4c3d-482b-a396-22ae103b24d3 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11748311 uuid:263d12b7-d297-4a3c-9652-68af8970e590 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11748311 uuid:214a91a6-445b-4d5a-8e03-d9108961aaf3 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:11748311 uuid:351cedb7-135b-4299-84f1-d126d0f0d38b phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11748311 uuid:6eeb4187-7c10-4891-bb1d-ef4cffc562f3 phenopacket.store:TBX1.PMID_11748311_p13 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11748311 uuid:cdc8070a-6aa3-4072-8392-1b3667b6ee7e phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:7121729c-6fca-49b0-9a05-2d372904fff7 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:ba3b6b49-c1dc-4075-b49e-32ee1f6e6a4a phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:9fd6aa5d-c73a-4b68-b447-bca10195e7ca phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:b953bed2-c669-4c85-a8a8-888184793274 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:218ce54e-f769-4577-bd4b-a4e3dd8382c6 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:5f72ecda-fc60-42ae-870c-6d2754a891d6 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:99777c92-2532-4b62-8934-39051328bfd2 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:d37c4229-3b30-4e19-a6b5-bae72902fa53 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:4772e40e-77fc-4174-9cf0-f141ab78254d phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:8e273b3e-d8fd-4baa-bb91-fb7cd39b632e phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:0a373543-bf51-4661-975d-cba44cb5c060 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:88c9a71a-62c6-4e88-91e7-8a13632d4c94 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:e14f4735-b2f8-4687-bf5c-d02f4d75bc52 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:469971e8-b374-4361-8b5d-2f9f1f1c7d3a phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:b00789dc-efcc-4ff6-80a6-89fdf2dc9459 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:26b0aa14-de77-405f-b6d6-152987eb1dca phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:db0316c2-c223-4876-815f-99b18411e1d8 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:61f30168-f2af-4e42-9cb4-9cf7a4446fe8 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:7c493548-09b5-4466-9abf-48e789a1841c phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:1f2c5fbb-d636-4d68-884f-4021a1f6ffd6 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:b57bcba5-e4ee-4c3a-b7cc-f1d940b417f0 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:84270808-7247-464a-90d9-8810ab063156 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:ad002a8c-ce4f-4e5b-88d9-ef9f8d890790 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:fd2c37a2-55e1-4cb4-b042-bd619488c818 phenopacket.store:TBX1.PMID_32110744_III_C biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:25aa0f17-bd13-40d1-bd2a-c6c6877a8374 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:262473fc-2639-4b93-84db-085aa5238e24 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:695a80ef-cba0-486e-9d67-8f745da8e240 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:0368ef90-84c4-4bd8-b27e-32e49c97bf0d phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:3cf6af07-5ff1-40f7-9721-7bebdacc11d8 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:52562951-7d97-4c60-a9b6-36d14a5e6786 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:50a8155b-da33-40c6-a65c-499768c6490e phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:6b78ed58-b80a-499f-b8e8-b822a9f90f2b phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:d6634a57-ab76-4cfa-8545-fcfe40b3f68c phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:03f69485-3b5d-4ef0-ac4c-01697ecd9e0f phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:4b5fd184-5c16-4ca3-9aba-082fb50eb9d6 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:d3a05373-3add-4223-a8fe-3e1dead59c0c phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:1e74472d-a8fe-415d-a383-e778d8009a34 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:ef10438d-767d-484e-a0d7-32a5ca4c5e7b phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:0708e7cc-4776-4a50-98e6-e30b5e5adf37 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:c5374174-37a7-4e71-9d6c-f3f5cf5e7225 phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:43ea08e2-af63-4849-af6c-a007aa6a77ea phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17273972 uuid:8d995cde-1f36-4d1f-bb5d-08da1008e8bb phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17273972 uuid:f6a76eee-8518-45a5-bc50-fdac7896aaee phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:fb36b971-87fb-4868-a6e3-e92c7b0184c3 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:a4c6144a-9833-403d-8bfd-10b1bbd14383 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:25c261d0-de18-4b75-a186-a57aa0a686b6 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:0bbbf0c7-0b0e-4222-816b-3cf001b13db4 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:5728e13d-a55a-4e12-bdce-1e47b7e51a3d phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:0a7bc255-6983-41cd-8c94-31c03b7c557f phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:ba4a7ca5-8a1a-4f14-9c2c-45bb751342e8 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:5453528d-336d-4af5-8cf9-1564f0faeab6 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:01e109b3-681c-4a67-bb0c-9d9659a9301a phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:8ee89f9e-ae3f-45cb-a23b-f11f5a8bf043 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:b1661774-023e-4352-a5db-338edf47846f phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:11db614c-e2f7-4c5f-8bde-eab4b2282827 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:6a71877c-41b0-4e3c-b238-d71055f93306 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:dae2d880-7665-46c4-83df-5067501d37dd phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:39d1f7af-0c2a-443e-a147-da2d3a641cb7 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:c5a80752-60a4-4a20-a58a-29cdd8ca18c9 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:ada322d6-6a0f-49e9-808b-0f1a22b8894e phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:eee0f6a9-92ea-495e-ba6b-421945be5056 phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:a40e03b8-69ab-4ff4-a960-233beb2f7a0d phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:453a7219-e24a-4393-95c1-61ddba43f9ea phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:441c86ce-b1db-477a-91f3-0112be9a1829 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:7a40416e-4cd0-410f-bf64-4bfd6843d81b phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:0aa66e02-1844-4938-b340-80ac85bc1db7 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:2dd85b2d-537a-41d1-b6f9-f48e961db3f9 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:15e7bad5-fdb6-47e4-ae63-0ea88a3fda99 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:9902a40a-dff2-4e1b-8931-6e1ca9dc3aef phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:a8aa8c00-cad1-4d6d-9897-ab0758bcb8c9 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:0d6718c6-b4a2-4bc0-ab40-3133139e08b3 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:f4e3cc69-336e-48d4-a381-389cebd96f27 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:5dcdba6e-bafb-4b90-b999-8ba798eadaa1 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16684884 uuid:97b3d236-73f3-4c49-aa9e-a37454c650e0 phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16684884 uuid:fd58506e-a030-4a4b-b6a0-bf1945d591e9 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:0d19129f-3ca6-4488-91f8-c27cd8b28444 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:2fe8d7d3-0200-49d0-b7ab-d4c34e542d11 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:66002288-39ae-4e59-a916-cda291b310d6 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:0356e5af-9460-44c0-9c60-2dd7c0fbcf0a phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:efb69a93-39a2-4482-b038-13fb07a41a8a phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:5685837f-7e1c-4544-a882-b62f5ee9b0af phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:0719109a-2efc-432e-a5fc-46f0d19801c9 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:a36c33b6-70d0-4f03-84d0-9bca836a06f5 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:fa696d5e-c7ec-475d-bedc-cf01ad4a8d7c phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:a82efbef-de19-4355-a0ad-44534ecda3f5 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:f2bb2b5b-54ae-4537-be1e-741ee7cfd50b phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:ec408888-be62-4556-8cbd-064b9157ceae phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:eef68a20-39c5-4ab9-9ba1-aec9f2fec5d8 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:c01c22fb-3501-47a7-a2a2-4066adc35fef phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:a86c7b31-4a3d-4df6-b73a-2f6efd2571ea phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:c466a213-0f75-4e43-836b-fd791a7171ad phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:420a29e6-f5d4-4b0d-82ab-c2b0fdf4f673 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:cb40808d-8b57-454a-8bc6-eccc35c7e672 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:1e4cdbbb-ac01-47f4-80d1-f7c42490e789 phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:b359fbe8-5b0a-47c8-96a9-2bd18fdd4a2c phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:5cc1c2be-d7b1-4074-8513-c06f1f366e6e phenopacket.store:TBX1.PMID_24637876_III_1 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:eba81b5d-9540-4703-9b8a-fe8cb69e993e phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:0f7e2aff-4432-4063-bea9-2749ec93c95c phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:0ca86bc2-8fcc-464e-8786-c87502df3392 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:58afd443-3d0d-40cd-9185-e56b8c7a2e93 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:b9b92a83-e18d-4a97-bdcb-be94ceafc47e phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:1ce94ac8-a1a3-4579-bdaf-5a314f35d4d3 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:de470717-265b-4501-9f38-7e485b4d044b phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:61188617-60fe-4a8e-9d75-178573468c3f phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:14b6d5c1-2a75-45ea-b8c0-3b91db7c8eaa phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:fa0803d6-c949-44f6-be97-ad24648f7e0d phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:3b6029bf-8ad3-4693-a68d-e23c73aa0a29 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:3c6551f5-4456-4f90-b169-f43bb8b0ff40 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:b867d9eb-2f16-4504-9303-9deb6887807f phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:6710481c-f09c-40b0-a884-0f8f8593a3a0 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:4738d370-f4a3-4fd0-96c2-31a1bc16e802 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:019986a6-3ec6-438f-92c5-6d7cae30ed54 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:e61a1394-da90-45d8-b5d7-cd7fb3a0fa83 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:64a46580-274e-4f82-8f85-0ef45b76d9c4 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:ebdc8c45-1d12-420c-bd53-b153152394d5 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:4b785e0a-0e09-4bb7-b3ea-186ebd369e90 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:9c5a409b-2440-4064-8693-deaebfa82f07 phenopacket.store:TBX1.PMID_14585638_F2 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:6c0a4735-2c98-4599-b234-b9e7ff9b5585 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:891165dd-709f-4fcf-8067-74d546bbe68a phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:e185c7a5-0015-44d9-a8f1-7c57e00baa35 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:79bd058f-9fa8-4625-b1b2-41a813967ae3 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:892694f3-83e8-45ce-84a9-e995ad724f50 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:796fbbb5-9a3d-4584-8e46-11728fe8ecee phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:1c2244d7-2d1f-49f0-a0fb-fa2f854774b4 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:3a433d0e-a597-4f79-9bb4-89f3ff0d21f9 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:4b27a8db-f9df-4762-8e2d-c665407f7a42 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:79f54faa-b080-4335-8600-66b8e64d7a4d phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:0e864c05-41f8-4ebf-8056-babdd9f8f503 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:22bb2893-6749-40d3-bc9f-8bdca4a25f6f phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:8c671a91-30a6-453a-b794-7319f32b5ddc phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:b3d104fd-881f-41e5-9b46-c0ee2b75ca65 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:62ee313f-e353-4c06-acfd-934453b9b8c9 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:561b3333-ba31-44a7-adb4-7c42218ca1f0 phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:98ddab86-4b86-4f15-8223-f83325fee83f phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:71e1d30f-e7de-4c53-a5d0-ec92009018cb phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:83f4ac9f-4f9d-41be-93dc-094aeb4c067f phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:cec22577-7e73-4159-ab84-5371e2363fd7 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30137364 uuid:459684ce-b9a2-4272-8d3b-8068cb3fe5ce phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:1adbf857-8a5a-42c5-bafa-df331b693285 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:d0660ef5-c8ea-4095-a05d-13046a1d76ad phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:2a331b39-7b71-4a8e-a00c-bf189dfe22a8 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:38358b6f-eda5-4089-8c8d-f830dccacf08 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:1b8e2b77-7602-4ea1-80ad-90c6bd45be72 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:43769a3f-b615-42eb-b29c-dae15cfc8086 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30137364 uuid:15822897-208a-4a15-bacb-95faf6996f53 phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30137364 uuid:a7d7ca0f-b817-45f4-9b93-ec707fe04fe0 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:fe81f094-9b75-4a39-840e-f92c256f8400 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:b31c9b2c-7410-49f2-a6e0-4e530a6a44a9 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:f739a15e-bf9f-44b4-8ab2-8849ae0823d6 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:9f267b39-6c97-4f8a-a51a-f6e65dc85f2b phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:fa2fcede-bd56-4d50-9faf-71e298209f65 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:23f778dc-4b19-4737-aea8-4ab8ada2c098 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:51ed1e7e-7baf-422e-b8c8-e4227632767f phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:8e4439bc-3642-4e8e-a45a-206b6055b630 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:fca2b956-c113-458b-a3f6-cec20a1220b9 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:e47ca1ef-a635-453d-899a-4e25b78ad38a phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:859b7c1d-c37c-4122-9d9e-c75a921c6ec7 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:77c3a1f5-1c1f-4907-9620-da59d2a5b48a phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:051c9fac-48ec-42c2-81ef-bd3ffda6e580 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:c9aa1299-9460-4633-a6c8-6b3190c76625 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:18ef487b-0f7d-4d4f-9816-9ee3d5098efc phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:408162f5-a4b8-46e0-993f-a55990420917 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:98cc3a11-4b62-4052-b195-ac19699c81f1 phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:1a5dcc0b-c408-4b78-b17c-d87998739023 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:dc8a3dd3-769e-4b20-b02a-3aaf2f7435da phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:c366af48-9a5d-47e3-8a7a-e560eb32adf6 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:82dba985-ded3-4225-bd79-18f00a5d0c0f phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:01e58363-c568-47b0-9695-b24d57ebdf9c phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:ed316657-201e-4de1-be16-4d33d5cfa3d2 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:15c4eac2-e919-4d23-af97-38605b2cd487 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:ac5559ba-4ad5-4c3a-b7ac-51c795271e33 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:766c8502-094b-49c5-ba3c-0e496ac14891 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:89337807-3dcc-4c8b-8854-892d6acd2f6b phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14585638 uuid:848edaf7-fa6c-42cb-8228-0e4d9bd21780 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:6bcdf68e-337c-4146-8ac1-4808a4641b5e phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:d6a21aa7-b261-428e-9fb2-f43ed823c413 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:33edf8ea-9f69-4ac3-9dd8-5ff6d3878676 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:3ff7fd3a-6484-43a2-8fcf-0df61322f42a phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:f78bf323-5d18-471e-8676-7b4eeff2cb64 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:d3f0f03c-a1ec-4ac7-a8dc-206d7d7fa9a1 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:ef00cb14-ad2d-4aa2-9368-946e6405dc02 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14585638 uuid:0c036c0e-9399-480d-a7d0-07eea49b1183 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:2fb94d7c-22ed-4e3d-a523-bb5fdf259227 phenopacket.store:TBX1.PMID_14585638_F1 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14585638 uuid:e55d5a6a-ab27-4562-9bb0-b8ec363a1fe7 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30083032 uuid:33672a09-7dcb-44ff-a686-3b85d21e10a7 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0010515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30083032 uuid:594a2e10-e567-4820-9730-2848103cafbd phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30083032 uuid:eb94e756-9c79-4c75-afad-fab7cb3493d0 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:8af95dae-5465-428f-a83b-bcd089459eae phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:0eea05d9-2ddc-4829-bff2-ab278122c680 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:628569f9-f075-49ed-9c43-606e607d5811 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:436fa5d8-a185-4610-a572-85edab84bc2d phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:1deec884-9e6c-4488-8bd3-7abe47ef0a47 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:a0b2d0cd-f8af-4aa7-a2c7-2088880e71b7 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:5779ef3a-8516-4693-bd3b-0f4423d4bbfb phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:97e064a9-bfc0-4072-b2bf-cc9cb3594d7e phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:30004f90-5899-4bfe-af52-5facf5e796d4 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:8421b859-c85e-45d0-806d-4f3034361ffa phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:e43ea19e-5e45-497e-bb97-00243ed5ab36 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:05ef1082-2d25-4d61-87b3-9774c2c20a88 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:00cdee73-4a57-4c50-9c78-b1375e452017 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:4d1b730e-d106-486c-b4ff-58087254c36e phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:582c87eb-ac36-401b-8f9b-c6d6687c7d21 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:4c2f2374-a074-4073-9b3a-d553911db8fa phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:cb2d7192-d5a7-41ed-b33e-7d1b7c6e1df1 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:e307c5ee-6ed3-46a2-8a9f-94d3c76e7d8f phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:eba51e83-eae7-4326-97b4-3c4782575db5 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30083032 uuid:1ac8c497-57de-4b1f-9f28-6cc679432c5f phenopacket.store:TBX1.PMID_30083032_individual biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30083032 uuid:52d24c12-95aa-4cd2-b704-279b8e69e820 phenopacket.store:TBX1.PMID_30083032_individual biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30083032 uuid:06fb6b94-ccf2-410c-b8de-659f43506976 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:a497ed51-b6a8-43ea-b39f-265acbd214bc phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:f79f4700-4fd6-4e64-b910-0e1f0b7c386e phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:3496511d-19cf-487e-8f7f-154996b460dd phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:90c4a197-8b74-4680-bebb-b2458680b2bd phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:ece296a7-32d4-496a-a62c-2001adef17fe phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:92998675-dfe0-4143-a441-f8a8171d1fed phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:00df41ea-5a7b-412c-b76c-bfc224419b54 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:1dfdfeba-2c2c-4904-9d0d-8b4e6ce46a97 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:72ccaee0-334a-45f6-a24f-2584d4f50950 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:cc58bfee-d7a5-4afe-95d4-32cbab6d62bb phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:48561a27-b57b-42de-a1b1-32b63f4a8b97 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:26ac9326-3f6a-4af4-b209-3b8399222523 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:ab7478ee-52aa-466a-874d-2ae39f65cbee phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:421d4ae9-9340-4f18-b92d-6d3df578a20a phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:a5b3d3b6-032e-4a4c-95bd-b0527f9f808b phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:1275648d-bb12-4526-ae3b-5cda3bf273b8 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:86e35d58-a71b-4aa9-9419-43fc5d86ac87 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:5c523005-5217-446f-9ecf-ce5336fe8f94 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:0177b0c3-9673-44e2-b71c-5986f9aaa121 phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:cb5249a7-0098-4af6-a6f2-936049fada1d phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:5830858e-971b-4465-9b80-c1a52e571d0e phenopacket.store:TBX1.PMID_24637876_III_7 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:54cb02b4-c107-4165-b50c-5b8d208d0bbe phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:9ad773c4-851a-412a-90d6-5c0dda8d771f phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:05d05b34-f072-44b9-908d-1070635b278b phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:37f47a65-db9e-4d50-b05f-dc4e3a36aa19 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:d44ee7bb-e566-4e13-8d77-879ddcf97a00 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:937ac4c8-67b5-436b-9e34-7c7518b32cfb phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:49f817b0-82e3-4dc0-95d0-8b915c740faf phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:021359f8-8c15-46ca-853e-d37638f74dda phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:534b0ae7-0e19-43d7-8fcb-99eda1ec3c7c phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:d16de29b-03c7-4c79-9944-df0337b61acf phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:af5bba8b-a93d-4065-bd54-3236f9a5875a phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:b6ae0e0b-62a2-47e1-8bed-3f385811a2ad phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:e83a3e55-03a5-4c2e-a9d3-0e6467ba870c phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:30d01965-43f9-407a-aa2f-7ea76786f150 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:3f2c0aca-9e66-4b66-8bb3-f1728e880e8b phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:78615846-e529-4fc0-816c-c05d577f80e9 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:1de58996-21b0-43a7-b784-05ac72f08dd9 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:ab202c07-c3d8-4847-90e8-180dd127161b phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:c8173262-779b-45d8-a9c3-3762d42c7b38 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:4bc16db4-7d80-499b-bf22-c517be11173a phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:65b1aa7b-adc7-4834-b164-10b16d7fd424 phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:2b5f6643-2e53-4443-b912-084407855b4b phenopacket.store:TBX1.PMID_24637876_III_5 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:ebdcc3b5-4977-4a4b-b4df-25136b8343e0 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:1b451d7c-a677-4b75-ab04-95db36a0a42e phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:3d405293-91ec-4e86-8d10-6d5999d386b1 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:5634d18a-06cd-4192-861e-3ccff32f1a23 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:832ad029-afb5-4684-be11-646bc8017db2 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:5c2d57cb-261f-40e8-8ac7-afd816864eb4 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:3623e5e4-1e71-451a-925d-efdc0eda9af0 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:2688a9ae-5bd5-4ac1-8ae8-6c6dde107172 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:104f951d-1e30-4c83-b799-2dde10836038 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:a26a920c-f9b6-4395-8900-f9ae1ad32808 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:45aa73e8-0dc3-4f5c-989a-e506d907ddc4 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:b85507b2-31eb-4cdf-9300-1d7ec1e92180 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:6dda62e1-6329-4cc8-9a3c-75c8e59ccb83 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:86bd743f-9641-4525-98a1-cb4c77903747 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:aab5345f-39e4-478f-9b44-299edde72d90 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:af05cdf1-e8be-44ac-a764-b4c660f980f7 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:88a6f44c-0af4-43fb-9975-dc4ac2080c07 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:60575b3a-77d8-499e-8143-75423d575a55 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:baa11c43-b1e5-4e31-9559-cee1b61aeec1 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:f632e239-d7c7-4928-83f4-740038ed5bca phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:81e42573-9885-476f-b906-741d300f4939 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:571c0bef-309f-43e3-9147-2f159624ed7d phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:8a30cf28-cfdc-49de-8d95-1c080920f217 phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:5bfb4781-3fc4-46c7-b3cf-10dc9d8bf1db phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:cb97c080-c206-4129-b520-08d08dc85cfe phenopacket.store:TBX1.PMID_32110744_III_B biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:9c73423d-3f9e-45d2-a005-c58a6e3c33e5 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:a91c8774-ffb6-44bd-9073-fe5ffdd0909b phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:e446d467-32fc-44a2-8f42-a32e143388ba phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:789b6125-41df-489c-970a-ff60068b63e0 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:03cc972f-abe5-4b66-891f-71509b24274c phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:62b62d63-15a1-4294-8b5c-f6fde1e3e312 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:0e1cbe26-08f2-466c-9c8c-9a90372effd6 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:285c985c-a8c2-4a46-b7f0-dbe9a002430c phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24637876 uuid:ae71ae30-510b-4ceb-b989-1124ad751f82 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:06a9e0a4-d928-4d08-9b33-aada962bdb15 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:a406e56c-e735-43ba-9976-700e328e62dc phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:53ac5c32-7878-4374-ba3b-1ae277a83e26 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:d7755181-ce2d-4e46-8717-76242e325e84 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:b159e888-6fcd-423b-8f63-9926493f2b80 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:0c5048eb-9c9a-44a1-8538-ee5a14b32bc1 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:6a5b9a2f-3931-49a9-bce6-bcc178d36f3a phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:e971385c-f0e6-4283-a3d1-9a05b2b00a35 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:8cca787a-66ee-4dfc-b5f9-47310ef2791d phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:8fc320eb-7d69-4df1-b85b-aecbb15348c9 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:ac7b0a50-e6be-4863-b87c-d11ea3eece50 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24637876 uuid:eb14d7fd-ef55-4951-aabf-9ca03fa0b98e phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:7e1ae61b-331a-41d6-9e37-b3d753a757f8 phenopacket.store:TBX1.PMID_24637876_III_6 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24637876 uuid:9d83c217-c0a5-49ee-92d2-71a072ee8c2e phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:f81ae57d-e838-4c1e-8c63-10fe1e213ad4 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:182b82a8-16f1-449c-82d2-0dc2a62055e7 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:1a4389b9-17a3-44ba-bf63-c30b615e55aa phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32110744 uuid:ffa809d4-ff08-47db-a13c-6e539880d7e5 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:184e9104-5da1-4482-bdf2-dea9ff2f2b3e phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:5ccad1f1-a1fc-472b-a208-ea36905bf94a phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:d9bb187d-92f9-492c-aef8-8964d68cf59c phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:ce47c3d0-f83c-48ae-a93e-d5e237dfc4c5 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:3cd05e66-58ca-4de1-9059-d7962833cbc2 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:30fe485d-ec97-4724-ba5b-8fd76153fa0e phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:8609f36b-43b3-46fe-9b7a-2f508ea0012e phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:cbada983-3fe5-47eb-ba2a-5bb77f8a7cdf phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:ea6e15da-cc48-44f1-b2f5-3a7efa5a9c47 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:9d1ad69a-58ed-4a5f-b7c9-360327b4aa06 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:665f65a5-cd0f-467c-a569-124ab65a0885 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:25f66fe3-d08e-4ddf-81ee-288eb0d97f25 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:f4a6e8c5-90e0-4611-8697-838a901d01ac phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:91ebb24d-6755-4d02-af07-4f3e7f9fdb68 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:0d71e3c7-cc8d-4de5-bf1d-d219724b33ec phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:479f5227-15bb-4e9e-b23b-b8f15ad7f01d phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_phenotype HP:0100647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32110744 uuid:32731951-6122-43a8-98bf-32a70f541359 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:a2e383bf-79ae-4571-ba6d-9f108e9ca056 phenopacket.store:TBX1.PMID_32110744_II_C biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32110744 uuid:08be767d-555c-441e-ac7e-d7448468020e phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30137364 uuid:e87213f6-a364-4169-9693-c5b3cc9ee31d phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:190f4b1b-25c5-4b1c-b022-7fb9a14fa4ca phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:a23a6911-5851-4168-aa76-78d0aac2d82f phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:ffc2c69b-92bb-41e7-8173-6071c4d760b9 phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0005403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:441676c4-b1e0-4ba2-a063-27372e6cc2c6 phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:c1fd295d-e11b-4e58-9d65-9a6397b1c161 phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30137364 uuid:b0da81ab-0033-445f-9623-b591570c51a3 phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30137364 uuid:70287d45-c718-41e2-a476-7e9c4d842172 phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30137364 uuid:fe9faf06-b861-4df1-8da2-0d1403db214b phenopacket.store:TBX1.PMID_20937753_individual biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20937753 uuid:f1261fd0-cff8-499d-af86-3ae64990d1a9 phenopacket.store:TBX1.PMID_20937753_individual biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20937753 uuid:9d2e04a8-eb9c-4e2e-ba0b-40ed39df0d95 phenopacket.store:TBX1.PMID_20937753_individual biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20937753 uuid:b8167a99-502e-4e2f-b5d0-a501986e03f8 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19948535 uuid:01a79b8d-83ff-4862-913c-6b4cd171b347 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19948535 uuid:3462f071-3be2-4cba-861c-408aeb381cb8 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19948535 uuid:43a5f670-9b5b-42c8-9d36-78a0c4a207ec phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:bc2cfd49-ee5c-4078-9fd9-337b2345e299 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:e152eaf9-dfac-4654-b62a-ffec224807d3 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:5e291bef-82a0-4ad5-99c7-0c2ee090877d phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:06a25a14-6c16-426b-87ef-af13e4d2c481 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:80fe16cb-c29b-49b3-b502-5ef9650b1886 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:ce049cc2-174d-46a5-857d-478cead8e864 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:c0a722a0-9401-4359-a1f4-074d2ee34a22 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19948535 uuid:81556dca-48ef-44c3-9b65-9467b87b7beb phenopacket.store:TBX1.PMID_19948535_individual biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19948535 uuid:ee678b6d-b573-4e90-a29c-994a9226e936 phenopacket.store:TBX1.PMID_19948535_individual biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19948535 uuid:9013d90e-d980-4aa0-842b-b65f866ec8f8 phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:3cd99177-ed5f-4cde-be80-f5cbb2d77d37 phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:11159fb2-4408-405a-adc4-605b4dbb7e99 phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_phenotype HP:0001626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16684884 uuid:aed1cf06-9a60-43cc-abf6-668b4fa8699c phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:2b10d5f7-082e-4330-9450-78076363c96b phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_phenotype HP:0010442 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16684884 uuid:b0098e4a-f044-48d9-a50d-6eec8af45648 phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16684884 uuid:d12d37b0-b548-48db-bc72-33f5a61b254d phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16684884 uuid:6dda9aad-886b-4a06-a365-0ce8b0ad7356 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:64efeb8c-a2e8-45cf-9f89-205ad7c04aa5 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:aadc6d1b-72d2-44db-b92a-6f1048bfbb8c phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:e33805c5-ea5f-44a6-b769-4af6d247c42c phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0001999 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:7d37f08c-58f4-41e3-839b-27f87498f256 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:6a258674-22af-496d-a0f4-17539074bab0 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17273972 uuid:a9862a40-91e6-4bc7-92d2-af8ae7937d8b phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:3114da8b-f072-4429-af36-e0fb76e3c3d8 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:05912bf5-e87c-4567-ac51-9292369aad8e phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:d2678e56-7432-4a20-ba9d-f4356af5f8eb phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:3ee622b8-0841-4828-a731-67bc3252bd33 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:0e915033-8ee9-4759-af33-4a87b85ff160 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0031834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:27b183a0-1a9d-4db0-94e0-331016552161 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:bcb35823-525a-4d10-8e2d-8e00ea54f69b phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:ec029aaf-ae2e-4d64-b2e5-c3bc8d54313d phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:cd068440-c6c8-44ed-8682-2afb48208cee phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_phenotype HP:0000829 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17273972 uuid:f1202556-b9bd-4edf-8d95-3066fa471560 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_disease OMIM:188400 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17273972 uuid:9e3ee9e0-3053-4217-bd69-c3bf29648f89 phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:has_gene HGNC:11592 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17273972 uuid:b72c9a7b-ac43-4e8c-baca-7c04a2ea9c16 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:f45ed439-6faf-4179-ae52-5e1f9c04f0b8 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d8635f5d-0d3e-442b-b0e2-1f5bcb0a528f phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bcba50e7-b332-4d63-b235-027f99f55681 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ab593419-9749-4c0e-b248-dde793287887 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:740d208a-8356-4f60-84cc-b33fd6dff990 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:19ea019e-2328-40ac-bc1e-2f21d3e0d376 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d2dcfc9a-98a9-4341-a0be-8946076d5845 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c008791b-3a39-4b11-b6ac-ac2542ee7ab7 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:eddfb115-cd92-4a1d-bd73-b1c75ce427d0 phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:c9400450-7d33-407a-b8e2-62ad3c34ff97 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:a7485972-ca9a-4845-81fd-6547f16441fc phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:a1fd1940-5cc7-42f2-874e-fdf2cd9433d1 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:0ea44c55-682d-499c-a42c-a2f227e0a099 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:23b64457-5b2e-4d25-a741-c5ec334ed733 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:8b00d605-487b-4f88-acb3-023c5e5d4868 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0031134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:d2f02bc7-f67a-48d2-85c6-a70e0dc8aa8a phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0010035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:48aba649-63cd-4dfc-81e9-16c02b0f9d3b phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0010704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:0b52c426-3204-45ba-af14-bbbe9673d16c phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:26c1f9e8-5aba-4397-aecb-a67bbd64880a phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:e2050b5b-3fb8-4102-b539-3522fc46dd73 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:9998cb48-c4d2-4d12-8d6e-5edb5dccc0eb phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:f72c5f64-8f54-41bf-a459-10bb4507aa5d phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:abda54aa-0ce0-4ac2-b954-9bcd9887b847 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:99c7a2a8-c849-47a6-a680-b7db530579d3 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:5dba8755-4fc4-43f5-8eb6-94d085bae710 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:cca6ee44-0e85-4c47-aea2-ea5e77dc3ec9 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:57808ac1-d778-49dd-b5ad-7522ceed2ca6 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:f7a2f3be-86c2-47fc-b6bd-94af4ca7ce87 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:e2e49726-fa70-42dd-b399-e97d70edd514 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:979f2b11-e9a2-4880-a167-02d1b1000e28 phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:1e7eb35d-238a-41b0-a5af-62c3361edf6e phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34490705 uuid:6470cfd9-f45b-43f1-bba5-4b07a4d4539b phenopacket.store:TBX5.PMID_34490705_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34490705 uuid:f7db2930-c59d-4bd2-a714-de40b611a29e phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36444245 uuid:ab39b060-4c86-4c92-aa06-ab0fe5a2574a phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36444245 uuid:79d22c62-263e-44da-b84a-032c788ad4e3 phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36444245 uuid:2890f9b9-7c11-4ba5-9f10-c6f76bb051a8 phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36444245 uuid:c249ffc6-4641-43ca-8120-2ce344d7ff58 phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36444245 uuid:89f36ce9-bf96-4a15-93f7-7b2ea36218ff phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36444245 uuid:580a1482-f6cd-42c9-94e6-8f1b746518a6 phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36444245 uuid:737fe4ac-293e-461e-b0b4-97f0dc38bd9e phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:ce3a4501-1a9c-4196-9c81-b49816be24b6 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:8442f7d6-f7cb-481c-bd42-fffdb5c73101 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:840a2d6e-1467-4b1a-8980-9d8a5f9fa298 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:11c6f8ac-5931-4fe3-a292-6dc719486c26 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a008f485-2485-485c-bbe8-a70de79f4fc8 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d7ddef7a-25b8-44bd-b1e3-1b088186f08d phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:52a33884-2e38-48b2-af20-88ddfe6a804f phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d86772da-f346-48ee-bd0c-868382494b47 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a28836dd-645e-4b0a-a236-da831a951f51 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:12d2b42f-3cb5-49a7-92ca-dbf63a3f182b phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f0c7ecc9-1ef8-4596-ad1c-8beb6daa6830 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fb6f949a-926d-4bc9-90a4-0842a9813570 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:26291572-d467-4a0c-aadb-a5ccb20aa44a phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:eb1b0782-3488-4a7d-a6c8-41f42c51a564 phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:cc03b166-3f31-4d9f-ba82-6a45c4fdc48b phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:712cc70a-f394-458e-8a52-f1c870a8588c phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:cfb922b0-5cfe-44e2-ad3e-545f79ff32a8 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:e3a39cbe-c84a-4d3c-a840-f0d1d6e4f894 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:b3b5682c-e9e6-4935-8843-008d054b7dff phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:fbca6c0a-a3d6-4bfc-8bfe-80bc6fe737e1 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:9dfdd436-ec39-41c7-a25b-4305b9d8756f phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:2cd03d75-b7fe-4f54-a481-bd596d9208a3 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:924847ef-7680-45d5-bdf4-9ef8ea4ff87e phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:f8cfa735-d695-4a90-b362-f1dfc4c5f632 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:7e854921-1c92-4065-8292-29a8d9b76b4d phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:1b2d8a1b-d8ef-4640-96b5-c8c0e5dfc1c5 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:d0858f1c-0c4d-4014-88cb-149292ff09e6 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:c9104f7b-a910-4e83-bcdd-0c58d7742188 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:4b968102-b2b2-419b-8b24-a9c13debcb1c phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:097b82ac-4aa0-4e9a-a69a-7d07fa6279d9 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:d7e06830-b8ba-4a86-b5e2-eb8f5849fb5f phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:5e3d42ca-257a-41e7-b7e3-53ca2f22f7d9 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:0b64cfbd-ef68-4432-b209-6326af8d1c78 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:0f6995c7-bba5-49df-a147-381688dcfb3e phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:5a9976c3-cda2-4ee9-8dcb-ae5f36aa6a5b phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:40a8def8-8083-4813-9824-140edc466c99 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:f1a5b9c4-e617-49f2-9697-54e8123ec34c phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:e79be707-6bde-4c52-bb0c-871131b0b56e phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:b84edc47-2c3a-4e4c-92ef-092689dc7b98 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:64c4b1c8-6c54-4357-9adb-0da069d7cf9c phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:4f74f4a7-d8b9-43dd-b097-5bd4056db304 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:389953c5-d8a7-42fd-8e0c-649ae560d0a8 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:36d5b129-5a12-4af5-801d-cf67a19cb72c phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:61d95d37-bd92-437d-a29f-5ccd2408158c phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:2386028c-5d97-4c63-b46a-23e8944fb951 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:8f129dbe-2763-4e85-95b4-9268527b5f02 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d711233a-83c7-4cd6-9e92-4a60a87a0221 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:77272130-349a-412f-818f-9341a1d50e7b phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:abc5f858-1938-4f17-b677-1be0f92b6c2d phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ea51399f-714b-4673-86b0-1cb992d62421 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:43c3a718-5c14-4123-a4a1-f1e27b4c5d86 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6972976d-cf1e-4c8d-9f95-bbfb09cd1074 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:970cc933-d0e0-4a0c-bfca-c44e83741374 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:29d030fc-90f2-4a41-a362-3e17d99acd30 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:919ac1b4-7424-4d03-a28f-78e129f96c45 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e9e2210d-30ea-4ef7-9153-41ba5390b346 phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:a88ded04-69ea-4aae-a505-87218632826a phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:faf1f596-9e27-4805-a00a-73dfa68879b1 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:cda0eedb-e809-4820-ac5a-cd8b5331e810 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d18dbaf1-0b6c-45d5-a87a-2f17ebdfc759 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:3e089a23-c15c-4f95-b305-2e54b3665396 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0010704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:c5f94dda-2341-4171-9512-bd816dd8cc74 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a5f62388-9f19-4236-a0b3-bf3139c49cf3 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:81ad704d-fca3-4af4-895f-a69852f9e382 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:098307b4-2228-49e8-bcc7-a6359fd5ca12 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bc28728a-2d19-4a58-b26a-424ccb6ace64 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6f420178-c339-44d9-8186-a99ae02652cc phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9d5b5bbb-c3ec-4873-9870-a8625c733c97 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4f80b539-7eac-4a87-9358-7e4299712068 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f4298e04-f3a1-407a-a20c-b262b9626c77 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:40ccf113-a8ba-4ab7-8992-cae93499fefe phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:320e2d96-8268-4d72-8d23-c406759e8536 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1a336a08-eca3-4ad8-8f36-fa9eaa51672e phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:ceaf93ac-6ad4-455e-9996-fe159346b447 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:4429c55e-76a4-4956-a77c-8ef43c930da9 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:9984bc6d-0947-4561-9148-8f915b11ef6d phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:5d46da13-fb9f-469e-ac6c-86a0eabe41c7 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:b4a07edb-609b-4b35-a8fb-03a43855de95 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:3d29b4b5-8c41-4ad4-94cc-0d62fc692cb7 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:14d437b9-1565-4647-8115-a59a005b1f4d phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:e4237ef5-dff0-407c-b8cc-40a59d33c605 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:05bb41aa-109f-4965-bc23-dc9611816006 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:c26884d6-d5a6-4464-826d-ef8466f36738 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:a5a42093-57c0-418c-9500-1e680805ff19 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:84457381-aab9-42dd-b955-aee68248a4df phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:fa14d163-09d5-454a-aad8-593c2d12bfbe phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:9d46c78e-4cb6-4292-a53b-a6a22534c0ac phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:c4fd24b9-a53b-4d2b-a74a-0fb45c06a518 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:9a143804-40e7-4daf-a035-672467799b5c phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:10cd6e7c-d133-4ac8-b653-2f7620988c3c phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:378b9af3-ca3f-4009-85d7-fc0db8f8dfca phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:e7107062-a51b-4345-ae65-ab9225c52bc6 phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:807748a5-cae4-4028-a837-b07d48ba0ee8 phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:430f57c5-35cb-4a29-97cf-2a2d0c2c1d80 phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9df19204-4955-4e0e-ada6-70c6778a7608 phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8d23cc0b-20d7-4645-96ce-815aadfa8e3d phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ea8402da-f26a-4b12-b424-30ae70db1e8f phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f5921f60-d2de-42a9-9427-e47703719b4d phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8cff236a-dd23-495a-9452-363ce2b5b7fd phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b0880b19-0d14-4bf2-8bf8-2d57270d7d41 phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:12ea772d-f5de-4721-a80e-75d321d2033f phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bec2ee42-34c5-4c32-924e-6ede95c586e1 phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:66d15e01-d573-4e26-99e4-2b9dce581cfa phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:0748bdf8-bd3e-4da7-b35b-6666da574f18 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24408148 uuid:821c2da4-9782-4146-9cca-ea5d17fdd990 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24408148 uuid:f17e2cd3-0c30-4442-9735-15a11cdce2e1 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24408148 uuid:e90f5a10-8fc7-4289-87c4-735a4eda828b phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24408148 uuid:0d7efc3b-66e8-4b8a-89d3-da927cd64726 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:6959c5d9-773a-4d10-bd8f-0af67bc5a762 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:ce1e64f8-51ab-4bd6-a472-4678021545b9 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:48c99474-5a88-4876-b7c5-fac0a560a226 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:e7e5df82-c148-4b2f-8be1-4a2845c905ef phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:9f525df4-24dc-41a7-a3ff-c6becf0f0fbc phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:f5ce4cfd-08ac-4f89-8743-e53cdac435f0 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:741aa615-fbc4-4370-a284-2d851e05b489 phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:0408db3a-f05a-43f8-a302-8dc769230b7e phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24408148 uuid:32c142ca-4bb6-476e-aca7-7b620b4589af phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24408148 uuid:27612c00-5dac-4db5-872b-70a1f93469ed phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24408148 uuid:83156f50-94d3-49ba-92d1-4299c485d5fb phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:09533abb-713a-4769-a66c-915166ddad5d phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ca1fd2de-c900-47a6-a49d-b394483bed8a phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5e4b01e4-b5f4-437e-a87c-85db3c567450 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9ef6e051-5cb1-4757-835e-cf2553b7beb5 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:546ba69c-b5a7-4c7b-88d3-44feded39d08 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5bb7c1df-7345-40bc-b490-8cb0b8fe3493 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fd2a34d0-593e-441c-b89e-6684bf6dbff8 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:eecf1e47-879c-4d99-a504-e8b1194fc74f phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:75a2376c-9fab-45d5-a0b5-051a2b1145f4 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:452b8c9e-76d1-43e0-8cb4-299bf53b484b phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a55dc7e8-424e-4a09-ba03-96c3465944bf phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:0555b913-c04d-47b2-8f90-ef04bec213a0 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:d4ec93f3-8ee1-422e-81be-fada52668768 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:c6c82236-ef9a-4bfa-951f-cef2bf8ab537 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:27719389-7ec9-4736-b8c6-396776b02295 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:b1d7a0b7-0625-4245-8961-85a91d8b3b56 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:abf8fed0-9cb2-4421-8681-71e9f7289c61 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:eaca65e3-48e6-4050-8515-232ed0289976 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fb3c869e-1b8e-4708-b234-0cdbf890753d phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:dc570163-de8d-4946-971d-cb0699cc17ce phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8f4ff5b2-612a-4bc4-8cdc-6349a1bf9828 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:cbeb23f4-7221-4fa0-bfa4-8a227c7e1fc9 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e1446f58-3b6b-44fe-8251-cf129e5d0153 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:55c67882-2ab4-435c-a1e4-057382fa342b phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:50afa5e4-4f83-4b81-8491-56f76596f0f9 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1a199c1c-0231-4d36-b399-9c901c0c2ec8 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:d4626589-b8f3-473f-ae44-a9a1de8d1d87 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:ae92242d-a670-4e2c-9aae-824312c59b92 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:4ae4d5cd-9f0d-4c6f-9175-e7ab4e0228f1 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:8693d10a-e8d5-4812-9e12-3a383cdc9092 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0030241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:43e9acb8-49da-43da-9fcc-b6075ac4b81d phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:5b53b455-c519-4e44-8d54-12eed71efb20 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:c729ea58-a5a8-4a16-bcfe-1aa6daabe356 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:bb15c383-2d0c-46d9-bdc1-f630280fb419 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:53ff494b-6ef7-4861-a323-4ca36f94ae95 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:7613f7aa-fdcb-411a-b97b-f962183bba2d phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:c05eebb9-08cd-43dc-af8e-ecf4cd56622c phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:602d1084-7825-4e0d-bcd8-205593366d0f phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:e5a0f962-ed48-42e9-9154-aab08a42b971 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:85b08b74-73ab-4c0d-aa43-8d867eb05f8b phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:7da61039-6548-484a-b8f5-205d48672ce8 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:354231aa-946b-4bd6-8fae-8efc7ab5a5f3 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:924008e3-8477-4d23-9547-827317188682 phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:96e77b96-90d4-46ae-8e08-8a676242dfd1 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:0574bbec-de37-418a-aa3f-7fd88b2eab10 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:899416d3-790b-49aa-827c-c017f6530e07 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0002986 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:aeefe3b0-d13a-4b2e-a1d6-325b6d3ff647 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0003031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:acd797c8-506f-424f-9c7f-b7ef26d9d86d phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:24b1bf82-5b73-487f-99b8-1a0c8d167425 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:634b3bb9-9683-45ba-ba55-af0188eb0c49 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:a71ef6dc-6cd7-4fd3-bc23-2b52a0f50250 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:7eb0614a-e108-49b1-8862-54173326fe7f phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:04fb167d-e306-42c0-8aa4-31162dede918 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:d6078fc4-53e7-4dbe-aa07-1226520f0887 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:506ce230-a39c-4928-acab-f09844e61d72 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:b8688285-48e7-40cb-a9fc-d517aa780d76 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:78aea2d9-fe2b-4c2a-a518-fedd8630975f phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:414f9506-fa8d-4bab-b3ce-60a1189ce58e phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:2cd2b5f3-4317-4452-93a3-ae6075ec0a79 phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:035349d2-74e0-4880-9dc5-40b022a072da phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:ce5365c5-d0ac-4d2d-b7ae-124945fdcef6 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:c53132c1-2703-4b68-bbe3-395a68cf83a1 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:b34cdbb3-6d4c-4ace-a97a-b14af8080841 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:4e8128c7-daf4-4b9d-82d8-b8c6e35cf24e phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:63579e0d-9dce-42b1-8919-b6947b63d827 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:56bd9f25-ca54-4a5a-a2c5-064c938b1fb6 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:cabaa670-bdc7-4938-8a0d-ed5ed3ab5277 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3cd41a12-9080-4e58-adaa-41231483bbaa phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3f59fa76-8907-45e5-a24f-15bbdf3e95c0 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6ea5648a-285b-4b08-b5ff-d8e588c9c764 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:14750e74-70f0-43a0-b77e-fc7b7c0a8952 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:609fe9f0-4f66-4eeb-a9be-079c87e7c208 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:9a7a9870-3968-4c97-85b9-93e67671b98a phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:0bc245a7-1f2f-4689-9b3f-1fd82004bb7b phenopacket.store:TBX5.PMID_16917909_649_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:54164b7f-b1a1-4e36-98ec-f897a059c933 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:9caec807-e61c-4368-9366-8199fc936c00 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:41f48b06-b1cf-4f51-af88-8909e99c1863 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:93761e95-585b-422d-8f8c-0591d04f0066 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0200021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:706fc4e8-ab81-4a7b-abe1-06168525b8f5 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:72c063f0-2a0e-4845-835c-8bee8a0a03f3 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:9aeaf7ae-5e78-41e2-bf40-95e14e62afbf phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:cb395c73-d02b-4c0d-a0b7-c7bc0f276b2b phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:3c81c29c-b029-4be0-b047-cd0c8ef7fba5 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:5710a598-d137-412d-a3a1-a32bd203372e phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:4afb01d1-277a-477e-9315-2459b440de0a phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:538f7b6f-6865-416e-a28a-6cc5b81b2278 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:a55458ab-e430-4428-87e3-0c7cc4a17e7d phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:33a9185d-9fe7-4bfd-ad15-3fa481a40285 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:bf0ab394-b8f4-4252-8c45-c3cecb0e56c3 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:416b2687-d3f4-42f1-af4a-30cbd2e78598 phenopacket.store:TBX5.PMID_20519243_5_father biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:9abf4b18-9f72-46c9-be82-a9676832df0a phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:4aec2e23-1669-46a2-8634-03a05d474136 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d683ad96-c1af-4c57-ab52-70c31ed0a7da phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:6afdf659-169f-43a3-9eac-fc486f13e27e phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cc358ec2-8c77-4ff0-ae62-8e6e1796ad4a phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e615a2bc-6b12-4bfb-8121-54d541855b61 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4320192c-78f1-4360-ae7f-759a71bcd3df phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:24d548dc-7fab-4a2e-bd82-0e9e42574b2a phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:22f9054a-d8f7-463b-8bfb-ee3ee9bf3d8c phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0dbb78ee-90b0-4485-891e-9571406553e3 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f7ced206-2099-445a-8406-c90e7ef0591c phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:03e33c32-30ec-4f1a-96c9-140ccaa5e2b1 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1fffd3ad-9411-4b40-a1bf-9d87bb27014d phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4bbd7dfa-3a8a-413a-bd2b-f2abb4c66ec4 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:81432bcf-b2f0-4c75-a7b2-81b24d2e3671 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bb663938-ebc4-44a8-ac22-c257296889d4 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:9c0e0be4-2970-488a-83e4-c60cb3ce5627 phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:54117ca1-46a9-4ac5-b58f-bdc77d64c1eb phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:76f92b01-97a9-4ae4-8aac-ffa6576aed8a phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:d34c0b46-35dd-4f51-bded-c418cef47f86 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:cd459100-177a-4318-b7aa-9c49d58b966d phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:49f8a058-1ac2-48ff-9d19-bdfc7c2d1c20 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:a910c7ed-6728-4451-807f-44e35254bdc4 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:137b45fb-e050-4da4-a0bb-b7b2606a9977 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:90b05c56-3a88-416d-87f4-d00cf09e8db1 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:65bf15ce-e3f2-472c-8253-7762550da3c3 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:8a1dd2e6-9756-4421-a7ee-cf28cadf0db8 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:71b85d91-8877-42ea-a78e-f85f400dd2b0 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:87e8fa3c-e2b8-41e0-b30e-fe6b897ce612 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:72f50f20-df38-4f46-9188-c677de93b8f6 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:14ff1717-bf7d-4136-a357-4297fd782f2f phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:1c103a9a-9821-40cd-a0c0-87e95768cd73 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:c4a08dbb-a7e4-4ad0-8dad-b0240d3a8057 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:fd856aad-dd95-4dc0-a273-95eb21751e19 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d7e66638-f13a-4e83-a22f-5a18a68563a7 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:02c9fd5d-8089-4ea8-a879-795c3f171ddc phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c30813f2-8ac3-44e9-b481-714fb8b4d6f6 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:17669b5a-8a3b-4a1a-b041-c171c401a917 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b28afbe5-4b95-4f30-b2cb-f7d2383c86d0 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:8191a599-9e6b-4406-98c2-6280bf99ef04 phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:f93b12a8-44d5-4935-9309-0db9247acc35 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:fbe33f11-4ecf-48c9-a07e-f4d6920a8a75 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:25bed954-7ecd-4152-85ee-f23473ec5a6a phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:482b545e-c8b0-4a60-92db-42901721fe6d phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:800e0321-dac6-4811-a779-6ab4fd936374 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:014ca56f-6599-49c0-b98d-f5f5455e1461 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:dac58722-53a3-4854-9f29-5d83e918f270 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:45a1cfd8-e510-428d-9360-415d8c143945 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ea6b49a5-515e-43cd-ad48-382f710d44fd phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5c9e972b-f261-4d57-8d7f-bfb9539b753a phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c8487355-a480-4711-9fee-ddcf0e8c59e8 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9dacce12-9124-4b86-b342-80dd38e15137 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6610b40c-79d6-4d08-a852-a744e3b455e9 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9f0ffd37-7913-48cc-953f-c537b1bf4f24 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ef34a970-a82c-4eda-8455-60271eecd04a phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3e9d58f7-1f82-4bd5-b513-847906133f11 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cb66e62b-b48b-4d77-a450-3f003851e1d0 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:aeeaf91f-3f99-4622-b874-c522ea3fd0dc phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:e42df3b2-0256-45e2-8fe9-74d193aabb6c phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:59a40abc-75e6-43da-803d-5196ccedeecf phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:8e5b3fcd-9933-4e57-b8ad-6fb6ba581728 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b565873d-ae0b-4e36-b591-f2a4bd88bc46 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bfbb04ce-dd84-4bbe-b9fb-e0bd2ffd9c02 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9aa490a6-9899-4e66-bd51-3a48aa4f9f3b phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4e4cbce6-c6af-4820-bf07-e6e191c9ca3f phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:48ac2b7d-6734-4216-bf32-36ee79b8b05b phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d4755879-9fd0-4fc2-b01e-beec3097d703 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ec45ffa4-2add-4857-ba6d-0929cce48c23 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a8f7c1be-80b6-49fd-be3b-7337c707aaf9 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a7d9f6ed-20cf-4e1c-93b9-a3bb14e1a300 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:086d00c9-a4b8-4f4f-beb7-2ae136a33518 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:2df8fae9-0266-4cfd-94b7-a21a7d6922f4 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:41b10d17-51ea-4db4-a560-05ac9533ae32 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:4e1889ec-a334-4374-bcf8-42678b51cd98 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:6526d039-cc63-4d93-ad14-8fa09626f403 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0004756 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:2787fe62-7bf6-4c7e-912f-3b53f2903f5d phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:e03f3d02-0b86-4e96-85e8-965afd188339 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:177ee429-6af6-422f-a7bb-9e2e8b588a84 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:4cbc61dc-1ffd-40af-819a-269ff18e7b29 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:123b1531-b184-4fcb-9664-b727db518e47 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:68103d20-f58a-458a-8493-a0232325147f phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:8eb7145a-ea8e-477e-809f-8727ca887090 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:c60422f9-71ca-40cc-b1b3-7b0d0d1d9900 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:6b6eb1f3-ad25-42c5-92f1-fde6fa3719a9 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:693fd8e5-d2dc-45a5-8280-6bc1fdfbc968 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:c7b2476d-f3e9-40a5-97d6-771d813cb6a9 phenopacket.store:TBX5.PMID_20519243_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:e26e2e8f-cb34-41e1-a9f7-2aade9df9a4f phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:3b22caa3-c2d8-45ac-bfc9-a4ae8254ccd1 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d735cccb-5841-4bb4-8499-6fb02f3e066f phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:c4bac99b-c855-48c4-bea4-4d7251ca61d1 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c1bb1fad-e242-40da-bafb-8e7b44ae77fb phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c2b6e02d-a9a9-46de-93cc-c62c2a4f6132 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:608be7c7-66bb-4a59-a324-06be986c0ea7 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2306d65e-003b-4050-960d-9477304b2594 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1fc75bc7-6b12-46db-b4d8-ee5791079966 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:725b49d7-0260-4bd0-bdf2-5b451ba9499e phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8c6e21f2-af22-4482-bff0-c779bb089bca phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:64dc97bb-1e1e-40bb-99b5-c705b2fa91a0 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4d52fc48-b5e7-48d3-9d57-40d7afd025dc phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:21ea680b-9b71-4b6d-8f2b-171364a54a1e phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:7fdfe654-65bb-4743-908e-a02820d13b79 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:7c776d8e-ffa9-497a-94e4-17e28354bf18 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:cbdd9146-ab65-4114-8fe5-bb72545d9993 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:d993d66e-ee52-41e9-a08c-1ce2e3459845 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:7305612f-dd35-4d05-959a-861f16d50423 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:75a94d17-65ca-498f-8990-bb4013286d1a phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:5ae41741-4bb3-44f2-808e-1385036fa922 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:3bac3fee-6b83-4836-9040-4a8cb9063722 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:8eeeddb0-74b1-4ad6-9b45-3af8a88d8011 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:e25445ce-0cfb-4a46-8817-b5389adeaedc phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:d06affb8-6f25-4615-9dc8-44fb03c262ee phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:dcbfe932-3c5a-46a3-8bbf-bd44dfe1bc73 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:30430169-6919-433c-8c07-62214dd693c7 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:80fa789f-7c34-4172-8936-3ea2af31a117 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27026770 uuid:172b0e02-c8e1-41f9-a042-034e530be712 phenopacket.store:TBX5.PMID_27026770_fetus biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27026770 uuid:92a1e054-f8b5-4064-88fa-652f13c8f9e8 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:fadcfb35-e672-4501-b16a-e8c5ce06330c phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:0ed7547f-6624-4e7d-9f6e-38f52f664345 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:306f6b62-bcd7-40b8-932a-e7c525a6cb46 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3e79ef28-f5d0-4cc6-a551-63f90757481b phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ec4e948e-8fa7-40e3-8dae-89440eaed34b phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2af78c01-64c6-416d-9707-c6c7642e7e41 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:893e18fb-03f2-473d-b339-23c6baf5d78b phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fcf54ee9-4015-42e8-bdfb-ea04445254f5 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5b0271d3-68aa-4381-8e3f-f6d0b23e4143 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4153ed07-2cac-4ff8-87f2-b4b801a38a2c phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a6c103b6-265c-4b99-b6c0-c56476d69ea0 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:26acf4e4-5c0a-47b7-925a-ff7c03e4c95e phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:506b26d3-65a9-48bd-b2eb-1729b150859b phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:41dd1411-1d1f-483d-ab1b-18ceaa0515de phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2a73e37b-98d2-405c-a0d7-138a7c84fede phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:dd47fdba-45a5-49d4-a876-16d934b7a221 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:1aaf7a6a-6bea-49d4-b861-b592af7e23f0 phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:f95e60cc-fd86-4a06-9711-f894f52d5459 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:6b7adb51-3f5a-42bd-8908-b4f2a6add5e6 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0100379 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:78cb1c0c-6482-40ed-b31e-10fa4108e510 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0010035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:313066db-b964-466d-a77d-ef6afe98c5fc phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0100398 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:55a4cc8e-cfbf-47ba-a235-7a3d90feb8f4 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:eb73a57a-b616-4b2f-8af2-5991a8eb458b phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:d9ddd79e-51e9-4398-9cab-012d63fec1c5 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:31e91946-6927-4d26-a5e5-6d2d375f3090 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:d0d3c3dc-dca6-4e7a-9d43-a233f118e1c6 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:95ae8d22-015c-4305-a97e-34f5483987f1 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:c5e60eab-3c4a-4eea-99c9-e8ae308838f6 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:51c16fbe-41b7-48b5-a40a-dbe92fcc2b0b phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:ebec945a-4633-43ef-85bf-f086e5de75d2 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:adf3b5ca-b837-43a0-8802-eb8b4e6a1719 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:ed3c42de-2148-420d-a509-25f71eb87ac7 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:3cfe0100-a46e-451f-aaa0-f8afaa69cea5 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18351627 uuid:c2c5382f-45c4-4aa5-abd8-cfc6111a08f5 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18351627 uuid:6ad1aa98-6557-4a47-a56e-14cceab574c5 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:317af9c7-5c1c-4974-a01e-55245b73b61e phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:49496409-153a-419d-ba66-911fcc0b0b23 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b5217c56-2081-4980-92d9-a65c5ae4adac phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:45529569-0301-4035-8591-ce62f2a4e846 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d21b1ac3-94f6-48b9-8ca6-b96e7da280b8 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:99717d7b-aefc-4a3f-b25f-1c7d3a7463fb phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bc5e62bd-fe9f-4360-b7d6-9a061dcbc16c phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3ed16ef0-0163-4980-a318-86c65bad6ae9 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:95d4fcef-b41b-4d15-9008-c0f9aa308619 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4d04b8a8-c190-4eb4-bf71-95da1fd603f1 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:833e4f28-c560-4dec-93b3-bbc417eaf660 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8853eddd-c3ef-439b-9fd5-6e715aba562b phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fb45772e-3447-4671-97fe-24aa96fa5a2b phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:918a7950-e317-4b2e-8ae2-592ff84ee3bd phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2d899e1a-1271-426e-86f8-8cf4e1666431 phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:c04090f3-d087-45b5-aab0-ec9d75bb313f phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:3ed8fcab-7492-4ec1-a3a4-f3cca3c93ce4 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26401820 uuid:f8911216-60df-4311-9f6a-b5314b7d11f8 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26401820 uuid:2e15ee3d-a79a-43c4-990f-8abdb74b5672 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:b0624a72-efce-4e4e-b2d5-4f9bac18913b phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:6bdf2cc7-8552-4a38-8dc0-a7f0e3cf7fe0 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:92819aad-3b69-459a-92d6-369b8cb01fed phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:f4216af5-000f-4888-a851-5592fddc72a2 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:12a664dd-9304-4da6-bae2-f85dde38b4c2 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:9a9c4d63-11cb-489d-9d07-fe9cb066d56c phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:eaa87240-d3cc-4c5a-bd86-06e291bdd225 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:c021b0c3-7ee6-43ac-a70d-d2478cd6fe73 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:123bd67d-249a-400e-a3e2-d43449feb05d phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26401820 uuid:dfb0fd77-848a-4c57-b21d-3ffa7a10b665 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26401820 uuid:410593b6-cdba-4fbb-a881-1204b5e3fd89 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26401820 uuid:e322f19c-715a-4bbb-8cf6-f9a2700c556d phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:117db07b-eb44-4e94-99f5-b421525e8c6e phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:95ae46aa-3425-4712-ae0b-d37558898bdb phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0030241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:f4c2932a-3078-4e39-ac53-53ef81d48189 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:7c4ad967-c22a-4aa5-bae5-91be33dfe788 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:ddd14638-a6c9-47b3-bb91-ca8e9b64e739 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:6d89e186-100f-446b-81b4-123178df0b6f phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:fd603603-a884-439a-8695-0540edfdafa1 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:87605fe2-b551-46c5-ae52-285943ee736f phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:7e6c5ac4-1248-4354-9131-fa98fad99d97 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:7c3bffb5-e878-4f6a-bc30-8ba5616b39eb phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:21c9a33f-5b97-4d5f-ba0f-3a9195f8d508 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:9c8d34b0-a430-4b81-b1e1-9249c8905309 phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:f5e04a2f-885c-41cd-810a-228d67dab3ab phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:c8f744ae-8753-4e3d-91b9-75b9bd954fbd phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:43f11b6f-63f7-4669-9aed-d64a01395bac phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:f028b750-b16d-4c5f-9c95-db486cb0ae51 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:edaca608-1d4f-4854-a5ed-646c9bf443f1 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:27c7c5d1-a0b9-475d-ac2c-e42b1ac4051b phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5b4c5143-db9a-4f8d-8305-f2cfb21ddff1 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b5a5f545-5f40-48c5-97e6-9770f9f337ae phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f0d52457-2220-4668-af7c-71e2090500bf phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1ba4f948-cef9-4a38-8694-058c68a4eb6a phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f27cbb41-3b59-4830-b3ab-5c99ca9c8faf phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2124cc51-b883-48d2-a573-6b0e62a39930 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fd87b5f8-6cc7-443e-ac3b-2cdec00d1320 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a5bf06e4-cf34-49bb-a58e-3e74607a41cc phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bf8ecc40-a5f3-4fef-91f2-29e1f2569b1c phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a1e8ce54-73c8-4304-bd0d-d9562ddad987 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9a5d8478-903b-4cd1-8b5d-35596ffc6e17 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:3219c345-5497-407b-9299-c699d474c055 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:b26305b9-8471-4ba6-8fdd-d6c233585ae5 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:28434921 uuid:9a5b1038-bee2-4aea-b5be-b14a1bff76ce phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28434921 uuid:543e096d-f418-4692-9f59-43ddec9fe963 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:5a4ed4d2-a06a-41ad-9b1a-f8273e6cbcac phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:5ae38f8f-84ff-447b-9c35-7eab6a0d02d4 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:dd53ca14-a84f-4ce3-b777-abc6b9bac230 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:61b273c2-2385-4b2e-bf38-4d9437b9468d phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:556b230b-3b7d-44e3-bb60-2c061c8bac5b phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:945a1c5a-c6f7-4e6b-9074-56c142c9c46b phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:4d2e3f78-dc80-43c5-bcf8-0869c7ec14ff phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:9dbe9118-a9fa-415f-8f4a-40a8854a0747 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:37478b86-7550-4dee-9932-e5b5a5b88581 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:a6c72ad6-8c76-4b27-bab2-75945dd005ed phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:04d6759c-7afb-496a-bb9d-a02ecb1f0623 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28434921 uuid:049861b7-376a-49ac-864a-a149e41f3be0 phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation P0D infores:phenopacket-store PMID:28434921 uuid:09a3b7fa-be11-4b12-b6e1-be27c470285c phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28434921 uuid:7ab3258e-1b8b-4475-a6b7-88ab54ee1276 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:50ff4961-2b65-41ac-a301-5003c35b5433 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:1238cda3-5127-4d7b-b3e3-b17638bfe1d0 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:5b2c2485-0003-40f1-b7cd-17651fbff0eb phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:9bb3291c-21b7-42f3-8000-0c86b56376a1 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:7b13d31d-41af-4018-8f14-8b5223a1e20d phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:73ea5ec7-5df5-46dc-8d4f-4757037f7428 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:46b66c91-3a4d-492e-9e46-831104c17b2c phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:049e63a1-b28a-4919-a8c6-279ba2f2f70b phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:cda0e7a1-f1ff-446f-92bd-fc42419df0a4 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:2c9b59b7-1e1f-433b-b720-254a5a33b4dd phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:01c7c73a-0146-4ae3-9241-c95108afad3c phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:931de419-9270-46bd-bbbd-69bc80ee400c phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:98d1a1bb-a92e-4ed4-9f66-ed1d9cf909f5 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:644dd8a2-f8bf-4718-aaf7-c440adeac08c phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:701479b2-e734-44b1-96a6-2419affbeab5 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:9b13089b-c637-42fa-b73b-871568714b67 phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:946ba046-7f3f-4486-a09f-371c97f71c02 phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:802e4800-f272-45c5-81ee-8815012d00b4 phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:fc742bac-650e-4bf7-802f-e87597eadbca phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1d82df66-584c-45df-867b-bfc71b927d0c phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e3b67a25-7bf5-45dc-9afa-831c374d1068 phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:14223785-3e60-4c37-bcda-6dee4be16eb3 phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a05c279b-4015-4738-9fe6-3d17d7ade2e8 phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9d3d3706-08f3-48e2-a995-928ae16d29ee phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:76ac9f26-db84-4b95-8f06-f241de70854e phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a3130c45-8dac-444c-8388-31a11c43a52b phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9a14bf0e-aeb5-4d02-94ef-6b85ed61031e phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ee1abaa5-65b0-45bb-a539-41d8c0c4107d phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:0052ea12-b892-4138-a18b-77994aae952c phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:072a8d4e-fb7b-4d31-9b89-d6b812a84c6c phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:964b8d91-0e09-492b-8ea6-a13a22661d45 phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:bad8da5e-539c-4ed8-b89c-f55b5db7e21f phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:ceeac74a-cef0-45fe-aef3-239712e8302c phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:ca887213-c4d7-407a-91be-5dd94e00b12e phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:4a2ad6d5-ea7e-497c-acf4-8c8f266190f7 phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:a8bf7da5-870a-4aab-93bd-4f71ac5aa2ba phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:84db2ecb-3660-429c-ad56-21d216bdac02 phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:2961c6d2-f0b5-4ba9-a0d6-f260eb873d8c phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:f341995f-7782-474e-b7c6-e7405dfbb03b phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:5b40a985-faf6-4406-a85c-285874541d6a phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:4a43727e-d49a-4eb3-a285-f470a1488a95 phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:3695351f-5dd1-48b2-95ba-027e82541cf1 phenopacket.store:TBX5.PMID_17534187_HH8 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:45959d4f-7c1e-49ee-9122-2fc8c05fc49c phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:87be2e90-620d-4001-be09-1eafe296910a phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:6a2e0e2d-b1f6-4174-85fc-8ba7229ff976 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d07e73ec-10f2-404a-a9a4-5cf1666161f5 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:34fcfa75-6def-4115-9737-b9b94657bb90 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1cdd24ad-10e5-4c0f-b44d-f25b1e337ec5 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bbca4601-e5c4-4779-8b73-0322c4f113ba phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3cbb86b7-c3f9-4273-973b-f238795fd46e phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b66fcbc2-6d1a-43b7-bc3a-5d56c6540bb6 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:76cb68cb-6ca0-4a10-b4a9-4f2f69fa9ed7 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:603a03f4-fcdc-4c83-8fd3-4ab1fe4cf917 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:03192087-f512-4943-8b06-57df719cf297 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5a61080d-a5e6-45fd-b4cd-c2fe51a77b02 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b9d95351-6fd5-4065-b539-6f17b7edaa02 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:4436d0ff-e942-40c6-a975-c229bb3ff450 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:6c2f6875-7901-42ca-a0f0-467ff9d6e1c8 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:2827baff-5e1b-434f-af94-ba7893699425 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:f7da7c84-1677-427a-88eb-bd0f62704e80 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:29584ca0-9b0f-42bd-9287-e65923413a48 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:b1fb9c77-53d6-4228-b1f3-f227b30888c2 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:b38fdca1-25fe-4662-a16c-7e791b5c0649 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:7c5b1530-d3f2-4558-ab78-64dc5c94dbb7 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0005773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:a0b320d5-34b7-4038-9091-bc27649f6d6e phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:5534ba34-c78b-4d82-aa5a-386c98052081 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:00f293f8-c29f-4dc1-818e-b0087526b78e phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:edf32975-2908-45f4-aa87-6e7ec85320b9 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:7069057a-b605-4e07-826e-d7604e0339c1 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6f5a345a-8afe-4803-8765-511033b7e45c phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:31da1c3d-54da-4979-9133-555af72da8a3 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:b2f8acf6-2f91-41dc-8e94-2d6d0479cf8c phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:a26791c2-557b-46b1-97a7-189d827a45e4 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3d479f6f-0c25-4abb-bcac-243be144c5be phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:bd7369d7-2f34-4177-96d1-6e16c005b148 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2c5bcd50-71ed-4bf5-ae48-90eb4e3e6b16 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f2adacb7-45ae-4165-85e3-81702739b343 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:5bfc8a79-5037-40e0-b952-84453c48d022 phenopacket.store:TBX5.PMID_16917909_619_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:aa601cb8-ad95-4dbd-b8f3-7b4ea31072cb phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:0f0e967f-7e66-4d34-bac6-c4cdcfd69079 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:b072a04b-ac0f-4c21-b480-cc52037705ed phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:0b936f9e-674a-42dc-8e0b-ce0a51a3566f phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:5a650578-4845-4a61-b7a6-f4109175ef5b phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:f2b82676-161b-4963-8630-f4c7c3f93377 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:9c2d3516-fbd0-419e-8386-5c93ef5f524f phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:7d5d2742-2aff-4634-bd2d-0643bebad760 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:b3f2b2c4-c171-46a5-b49c-e547a1de01e7 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:72bcad54-cbf6-4c74-a81d-bc1b3b96a788 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:71500f56-e17c-4689-8528-b5472844f06f phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:c4832468-48c7-49ab-baea-62542d377add phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:ed351bc3-dd25-4d49-9726-4c87a4430993 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:71878e2f-c181-4866-9281-620796946088 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:ab50d562-c0cd-4ec7-aadf-ad75bc792f86 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:20f119a9-9fd7-4aa2-87d8-59690ae9b8d1 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:d60b3908-9188-472b-b3e1-c106526cc948 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0011709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:bce8b0e0-fc4c-477c-80ac-de579c8fa9e0 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f5edb865-6ea4-4003-8f00-0e9207dbfc55 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:27123d9d-9be4-4eb7-be13-740d5fcb1ac1 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:c5a40699-a6af-4d29-82c4-6c0eef958ead phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3daeaeb3-1f20-4827-88cb-4a650764bfbb phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:ac32508e-5801-4340-9a45-677f5693ca2e phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f8a091ca-ff4a-4733-8b3b-3cc7c6d1253b phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f73c8a39-4e0c-41db-996e-1336dd987517 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:75f452d4-be3b-4653-a3b9-f2d300ce709c phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6e3ce5ec-b6bb-448d-b39a-38f00b2a8038 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:74b701e4-1fbc-4463-abfa-458531530a50 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:40628477-f38b-4084-a001-5d4d90cafce7 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:c79bfe84-385a-46bc-a0e9-8d1179b2a9b9 phenopacket.store:TBX5.PMID_16917909_667_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:5013ca4a-5772-4cb7-bead-bde5c9101076 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:51d897ec-614c-475d-a3df-69fbc0ebd6b0 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a85a016e-c0f9-4a59-88b3-c20536378f21 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:5ac14d86-cb4c-4934-b9c9-e609f8d2bd75 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:0d2a5607-af96-4a37-9445-d8bc5cca504a phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:06e1ec3d-1e5c-4570-8d35-06113a02bffa phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:420164f6-d3c0-4cdf-be08-df15313bfce1 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f2a3f8ad-fcff-409a-97eb-63eb0b5cba5b phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b75c46b4-f380-4579-9dd0-f4345d10a4dd phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4eb9562d-ed21-4da9-9b0f-9a3054528ad1 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f70f6493-b7e8-4f7f-94e3-8c2439166e99 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b0bb9850-5c6d-4ad0-917c-61757bdfda86 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:614656f2-366d-41f1-bb8c-45b12e80096a phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:528352ae-3e79-493d-b5c0-1dbd0ace73d1 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0957def7-3361-40f4-8982-03232faee3fe phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a7c61803-d49b-4589-add0-ccfceed3a48b phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:2104abfc-885b-48f3-9cb7-81ce6b51afe6 phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:b6175c55-44d2-4acb-a8f6-07bffa7ec29e phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:e1e19880-2bc6-4cc0-a5e8-177388fba18e phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:55d05b83-686b-4d19-92a6-6dd909cf7f7a phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:5c8358e5-55e3-4719-82f6-afca479d633e phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:ae5938b3-12d1-49eb-bf05-bd4b398ecea9 phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:6a87e2d8-7419-4f84-90aa-8e7c32ba599c phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:30fb427e-155a-4ac8-bdc1-1faeb9361d8a phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:b2ec7fca-d70a-482e-ac20-a5456710aa3c phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:f11c724d-485c-4919-954e-ad333d028ddf phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:9c2f45e2-0395-409a-b7a0-7cc828f44094 phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:229015fa-e7a4-4d80-b890-a68418287cbe phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:eb373387-e183-49c9-ada7-bdf30628f92c phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:3e527e41-df44-4852-b2b3-45837e612b6d phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:1ede0ab8-6053-45e3-bafc-641abf4f41e2 phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:dbbb9327-9548-4f59-94f7-fc7b78a788f2 phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:7cfdad28-d950-4a06-87e2-310b1f46800e phenopacket.store:TBX5.PMID_36444245_father_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36444245 uuid:e9aa7546-bd91-4ef9-846e-42ebe810a07a phenopacket.store:TBX5.PMID_36444245_father_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36444245 uuid:0aac6d82-f35e-44b1-bb45-d06d17b2230e phenopacket.store:TBX5.PMID_36444245_father_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36444245 uuid:74104bc6-e1d7-4a04-b08c-6ca85260278a phenopacket.store:TBX5.PMID_36444245_father_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36444245 uuid:2329f327-48d2-4399-abfe-7705c20794d8 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:c0a813b9-a3e2-4b7c-a230-f3a73db3c7be phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d1e1742f-2f8d-463f-b5be-bc7d4417908f phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e4023a8d-e5c8-4a45-b70a-36d1b746e571 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3a443434-c7cf-40d7-9620-a6015c1d7b30 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:027c31e5-b5dd-412e-824c-93826f531c61 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:42c55196-9a75-4167-a6e6-7c770248ae5c phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:692d4b5d-13cc-4f1e-ab98-460f90065b2e phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c1a9e159-dbc5-4057-9a92-5d9cfe065947 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1cc4804d-4104-40ed-9d2f-b97bed672caf phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1ceb4f65-301c-439d-8981-b20762bca632 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5e5b59af-575f-48b0-a8b4-1d8e857ffef0 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d3c98c9b-a7f4-4fae-9332-d57b8002131c phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:8279522b-9acc-47a9-b0d1-d1bd291e98c2 phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:15e834a9-2e90-4948-95ee-d59519172796 phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:483e4129-bb47-42ca-b632-a8a494a6bf9b phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:819a7486-9356-470a-ab47-717779073cfc phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:2fdecee6-6a47-47d5-a219-dce42d1bf411 phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:e2bae1b7-f144-4cc9-ac57-998f00d93993 phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6afc1fdb-9da0-46d9-aad5-52d1f4c9e3ff phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:55f0a178-ce60-4e9a-b81b-3d927ad6d1bf phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:960aec64-a1fc-4972-a579-5e98368e76ce phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:e3569ccc-93e7-433f-bfa5-ce935bf2192a phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:aae7f662-95c3-432c-bda9-57fd4ec969fa phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:5820b4e8-d396-4aab-b1c4-99dc11098dcf phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:927218c1-4df2-4c9d-84c1-53792c96b3e2 phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d124c3c7-e1a1-4794-abb7-8f61546911b1 phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:e11e3d5a-f719-4574-a843-601cc4b0344c phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:e869b6bf-51b2-49a6-a36d-ab78113b2396 phenopacket.store:TBX5.PMID_16917909_619_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:c2fd7480-5a37-4b53-aac8-54a19ce1dd86 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:fdd59c90-5717-4f6f-b00e-4169dc7f3e64 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:691c0dc2-ff6b-4f3c-ad0f-de972f22e551 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:20200534-6659-4f97-b2a6-3125fdf0e368 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0000882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:0e53f930-3e2f-4bca-896b-d9d8f9671e07 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:99d76bd3-b286-42ce-9c5b-cec150dbaf22 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:51db83bb-6cda-4691-8cad-f6d8a875a243 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:17beaedd-8dac-4fe3-82eb-8bd34b1cf6fc phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0dd9035c-303a-4513-8bb5-fd20d16ef798 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cf3ceebb-20ad-4d9a-9a03-a110eb161d16 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3e95dd8e-91e0-4124-af2e-357b7997b98e phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4aa6103b-edc6-4b17-94fe-b5b95e595da5 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e1947c75-4bd7-41de-ba7d-f9773e2c66c3 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:24af83e5-580a-4ab8-8232-cbc3ad0ae6b5 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:47dc072d-1955-4b36-8a82-73485155530e phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ed07c7a0-ecb8-4805-8a56-557daef00195 phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5ea4ba59-99d7-4c64-b820-2ab43eb0ab2e phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:537e347e-4ca2-4aa6-858d-406d9ce3ef6d phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:91067c29-b7de-477e-80cd-a00fad6f7fc8 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:718c75f8-180d-4755-bb37-a9383c8f1596 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a12f58a2-b244-4f58-a579-080adfb4d618 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4be6a9bb-cf44-4622-a550-504a4c15676a phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b342241e-bbbe-4fbd-adb3-ec14a51d76e4 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8217438f-4ebf-41d9-872e-dbd0155a2220 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c7bb2255-0def-46de-87fe-1ecc9aec2cc3 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f33489e8-c2d4-4590-83ec-6701f94878ad phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ba9eac5f-ada8-4bb1-a03a-cd2b49499e5a phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c5216f1c-db5c-4423-a119-007ac96b0481 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8154fcb3-d6df-458f-ab87-c9811e9fc4d4 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:62895b97-fb9e-41b2-8a46-d287344c299d phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8f920634-07f3-4254-8db1-1c7b64603177 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3c86d6e1-8784-4970-8e91-3ae045da4674 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:8b7389de-a67b-4e89-b17c-2444608f4311 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:c270054f-1133-4c96-b421-6f5ac189e31f phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:aa6e34f7-feaa-4fae-a857-dd807f4c935c phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:6350dd72-9841-4417-ba5a-9993e043ded3 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f340deb0-b9a1-4c8b-bcc4-6c5e8e31a6b3 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:0f2b8406-85e8-44b3-8a5d-887418da2db4 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:ec37b410-c079-4e54-a0d0-e70f09c49566 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:6612c660-7da4-4ca4-9abf-506e7ce0313e phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0006156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:b75f3b39-dac6-42ac-b7be-f0ea1321e776 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:26aa4384-63e3-47fa-b766-39094516392d phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:83563738-cd4f-43c2-a5e0-3529cc3dd48b phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fa2a33cc-40a4-49f3-a721-552b533ef038 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0317de54-f10e-43a5-889a-53a13587fb19 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:57277ae1-61f2-4cdf-919c-8b5466d244a0 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9acf0d28-23b1-4faf-a9e4-3a23d5747c5b phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:84c0bb5e-ac2a-4541-aa6c-ed40b6abe91f phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:36d46da2-8de0-4a7d-b87b-1e355600de81 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:25873b08-82c4-4e0f-a6c8-019b34ea91fb phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:e1ee0f1b-1a53-4a0a-b650-d6f43f15b257 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0010704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:b905ccb5-b370-4f4c-b934-50ae7404ddab phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0001709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:aed6eb74-6c0b-4ffb-9acb-774d0c246a63 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:60d3e14d-5172-41ad-aef3-f2e1eb3318bd phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:d258fd15-285a-4e65-af27-a97a6b23563c phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:d73b93de-adcc-426d-a7cf-067fe98be2cb phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:9b365c38-1929-4cca-8ef2-9c34f79a41c5 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:87c240ab-3fb4-4717-a3bb-339d67830a16 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:5c906417-00cd-4006-bf58-cfd59b1580cc phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:c9b8a91d-ed72-4d0c-a137-e2a62099d770 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:5e2a2cf0-37c9-4b21-a9ed-91fa09d1207a phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33866394 uuid:be74e68c-a3d9-4789-b473-cbcbf6fbf813 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33866394 uuid:06fc9305-13a3-43f6-b20a-b7ee950baf1f phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:e921e24e-71f6-4032-b4a1-f1c0030032a0 phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:6f92fc97-27eb-4f88-9f1f-4da004aea63d phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:bb36b0d7-85df-4e15-b484-11c0b8c5424e phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:c3b58354-83eb-4173-8372-7c9db3086d4f phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:30ae9d82-a19c-44a1-9679-7447d535fb5a phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:50ffc4f2-5527-4559-acad-8a2d34b11700 phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2ffcb007-3889-4428-acf6-1c805ee4e5ea phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:68effa7c-bbd2-4612-b409-91aeb52072c6 phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d42ae9fd-1293-4780-8bd4-ff37c71de422 phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:15c924e6-abd0-4727-ba8d-2ba7436b3108 phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:5dc53944-3e5b-432f-8d01-fa012d9b2071 phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:3613b955-8e7c-4cd6-970e-87bee0ddb8ed phenopacket.store:TBX5.PMID_16917909_667_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:3391eae5-d3ce-437c-b19a-c5b76c2a193e phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:69c92e4a-74c3-4786-9d8f-108554524343 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:8ac374ba-ce66-4396-a805-1d6200972cc9 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:57a4bc1d-0cf4-4141-b8f3-e071e969c461 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:10ec94c2-0e46-415e-aa48-77d1b5490041 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4c6a6c0a-2827-485c-a780-bb4901093a2a phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e320d838-58af-4759-9eee-6efcb6091b89 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5655215a-44de-4033-b2eb-c4c5020ca584 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2feecbc2-3c20-4da4-a112-4110f1c5d759 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:989e6491-b863-416a-a6ac-81569ca77afe phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2be80b76-0bf6-4e75-84cb-27b953c760e3 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7b8e7c39-f949-4958-9502-e9468f616cf8 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:927819cc-4734-4799-978f-f5664641777a phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7d7279c9-2c06-471d-a411-1d0511ea3bff phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f9e69a66-445f-478f-b6d5-7d8e38db4670 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4d47c687-ee7f-4714-bba3-76e11f3f96bb phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e858f02b-23bb-4028-a230-a76d7302a290 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:88834142-9fc3-4cf1-9087-9bc4b09f74b2 phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:23380f29-c16c-4e8e-b81d-5a7848ac892a phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:16e79fb5-3508-4416-b65a-56b265395c69 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0011995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:c629efd0-5c75-4841-a19a-47c216fac2e3 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:a1943b5b-ebbd-4a8e-86fe-31cb3d5ca78c phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:5554d9ba-233f-48e5-874a-c9fff3e11269 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:f9bd1b1a-c48d-43d3-a5a8-8b2bae003c9a phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:f1297f3b-312e-4873-8815-c872df39e3eb phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:d5ec2b50-24f9-4aa2-b6c2-52cb03382004 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:2c9dfdf6-7537-4097-b33c-0e07c5c56718 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:7d99ebe5-962a-4694-a718-a238bcc30354 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:daab4ad2-a0f8-4b9b-9ba7-fcd7bee88363 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:e8d7cb80-de03-41ef-8675-6bf3d39a38dd phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:477e67d8-002d-41b1-8462-f41237aac7b0 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:5158ba3a-daa7-44a7-97ab-79ef2a731603 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:0b705c46-6dac-4b5c-9a16-cfd7ab4a97a3 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:4e2f040c-7dce-45b3-b034-1724af0ec5b2 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:9d15311d-72a1-47bb-903b-98d380c9e6d9 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:1651a2a2-2e83-4ec7-9722-9aa776b50c31 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:9acad617-2f43-484c-bd5b-8cbdfca338f7 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:aae617ca-5423-4c52-941b-656568604594 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0011927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:8711050c-45c4-4521-a954-1fe6e9abe4fc phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:52fd1acf-4ef6-46a0-9eec-96463e987884 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:14488c38-0f41-42f2-831f-da221053c9ed phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:8ef9915c-2eb9-4469-a11d-dbb6feae7534 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:c840a688-8d47-4f49-88c7-b250a2438517 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:feb78888-0e9a-48b2-b12c-84bb4a83dd79 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2d6381b7-85a4-4808-9e41-4acbad0d1f91 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d107096f-1415-4d2d-9691-e140a5368b2c phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:8dd07fe1-c9bc-4d0b-9ce8-ca025158b404 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:21578f96-5229-4819-9576-cbc4484a93ee phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:1e7ddb93-9990-4197-802f-7e13682819c6 phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:8b4a8c2e-ede1-4a88-b681-9e7f29ef35ff phenopacket.store:TBX5.PMID_16917909_370_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:c790bcfc-8b48-4260-9762-6849887aaded phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:9b5063bd-4c9c-4d0b-bca2-6baa9f004d7a phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:2cb86187-6543-4568-a6f9-8e3dcdcc75e6 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:527a54b5-75f2-4b2c-81ef-c2ba1ae76010 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:0c456bca-8de7-41eb-8cc9-c20d66dc4529 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0011995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:bb9bb73a-e0ba-4ac9-9e9a-d070c3f67164 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:b4651e3f-7dad-4bcb-9c1f-083fa81153bb phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0009824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:f7c1ed47-1372-4d5d-aa93-531a2daae0ce phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:c06001d1-e00e-4928-84a9-01a5f4dce4e7 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:eacbab22-b464-43a9-8fe2-053ab96469b0 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:3eaae4b6-511e-4247-96c3-b976a3e9d46d phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:655e74c5-c840-41da-a2a4-b797519fa0ad phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:11e87604-d17a-4730-b1b4-7b1ad4600250 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:77ee4463-b5c7-4ad6-819d-a5eb12ef424d phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:e4c322cd-3b9a-4602-bd57-fe01cb05f07e phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:a2683d1a-8a55-4c09-aa70-a5476c896ba1 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:c0b7df43-5c48-433f-9630-303ad826ed69 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:10646849-b23f-4332-8700-c11d9a73fa4f phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:7fd0a49a-158c-4cb6-b2ba-0aad18a1bb6f phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:8ff2ea3f-86d6-4045-ab85-bd53b6d0276a phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:d1be6337-3bec-4e27-b1b3-c55415a9a4af phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:65929b72-43a4-471e-93de-6dfa9e67964c phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:44c5c0a1-35d2-428d-b29e-0da56d2b6545 phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:75923449-a0c6-422f-8469-413f2b4ee529 phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:3014cc0c-a979-4f4a-940d-69f82f15059a phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:b214554f-18d0-40fa-9043-c1c863f45500 phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:162433ed-3b00-4e6f-b204-52d7b5815f0b phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:5a0baf3c-f21e-46f4-bdad-f662abb8c1cb phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7c68c51c-875c-403a-8863-bf5a0759edca phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7bd12a10-7108-4faf-b595-9744d056a668 phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8fc5c0a5-dfdf-4fb0-91e6-fbb0c04c3e9c phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bd26de42-d8dd-4e73-8402-c18becffc484 phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:234ad5e7-c8fd-4d8b-81e1-6a3a7c21fc0d phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b5c63b5e-f1c9-48af-80ef-1ba1d9318400 phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b989a318-2746-4390-bb83-7f22ba46e22f phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f63a6fdd-7698-4383-b717-d5d050ea691a phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c54b33e5-b4da-4868-babf-98f46ce36b30 phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9a7cfc83-a473-453b-a275-307f694845ef phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:64af31cf-a8f5-4b25-a91b-a280fd270bfb phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:ef858d17-a8ed-44ce-bc75-155f40ca9cab phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:22f80cd6-9e56-4eb8-b078-5e25d71bdea7 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:0ad00866-1f89-471f-86e3-20cba7361212 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:4218d941-5cb1-4d52-8cae-ffd1f8cf4e81 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:6f9b4ecb-3d1b-471d-8004-4bb1f45e61f6 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:8101829b-5278-4a16-8254-4d78a5ee7b9b phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a2024aaa-7f5b-4e58-84e5-cc8302306bbf phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:918418eb-ef32-48ca-afcb-5f24b877a8cc phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:876e8ba7-e1f9-49dd-9897-7aa2b0cacc3b phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c0fda112-c579-4efe-be9e-6c2b87bce8cc phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:03566915-14f5-43a1-82f2-ea102e981cdd phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b168263c-4a59-4910-99db-eb0c0508b61f phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1f9078d5-190d-4803-82ff-ae8c16520658 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c64168cb-2ef2-46dd-b67f-1acdad65d481 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:808713cf-b77e-4c89-95df-72c46e9c3f3b phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:76d8b629-7cc3-4ca9-8d62-78a3dbf95043 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0212c56b-949b-41d3-b95f-087f8aa4eb73 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:04124980-6c5a-4e7f-a6de-5c2d86f37d15 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:42f0226e-218d-49a6-8850-3f1168f0f211 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e529d34e-6fea-4136-a0af-6e81d6dac0ab phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f679c6e2-a189-4887-9869-7e0bae6ca221 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f1045994-2809-4e9a-8474-e84d882721d1 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c249ddbf-5055-4e4d-8b8b-fe8195743688 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f83c59b8-6c53-4f93-98f6-1ecdb41547bf phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:44f5fdc2-50eb-4a67-a144-055ead52efab phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:300aec68-d259-4455-81db-b5c5b07ea515 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9ea44846-75e2-4571-947d-f2996eab6615 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:56382bd3-8f74-4e43-9b6a-d3d0418de777 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e6b35b2f-bf2b-4191-821d-ad10f32ef46c phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:69bc527f-cc17-43f1-93b2-143b1ac11ca5 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:890a1de5-8f8d-4837-8e48-41693a5181c7 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d5d047d8-d1b6-42bc-a0d4-8da313da2ad3 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6ce1d0aa-fb54-4e0c-9c18-2d3bb43a7dd6 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:15172f59-4f6c-4331-9fe3-5257cba0d46d phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:aa526837-0882-4dbf-9dae-7a660489a342 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1e2eca09-a560-4712-88bd-e11c209ba52e phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:756788b4-6a32-41ee-9462-ec8d7c87871b phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:24f3533d-5677-4278-b94e-f5aa5022fc86 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:ad1be4fc-f4e1-479d-9d12-54ff636159c2 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:008eb4d3-30bb-4d91-9f23-d9ae3e189ef6 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:53ecbd41-58d4-49d8-b78e-3f495c25cd8b phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:a84e3a6c-8e84-4ce4-8a7f-9001aa7cccc5 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:823f8d77-68ab-4323-b3c2-6eab28d94b66 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:4ff143ce-d50c-43a8-95b1-e273e935bde9 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:965e9fc6-785e-4155-ae0b-78e09eec948c phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:f74b0cf1-27d4-40d3-a43a-03904c7f3f54 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:60e7fc34-38c9-4349-baff-9c687205813d phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:8bce1c50-9df1-4a85-9305-f779c3d45082 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:e7f71f6e-d4a1-488e-8677-79f11467de2f phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:32e5ace9-ddfc-453b-9900-709567c8f2ac phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:aef64d19-9992-4c28-b236-a16b4cc8ee15 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:63068723-74a6-4d7f-b592-0c8593d1fe63 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:3127dc81-99d2-4c70-a515-0fdbef24d2cf phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:0ece1662-3898-4cfc-9bc3-7762218fad94 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ada076ba-6161-4f7a-9a9b-9d0671775bcc phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7d22306b-cbfa-43bb-be32-ecb30acec65e phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ed0f4ad8-fc94-40f4-a98b-1c030d4939f1 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:df10abe6-e521-49be-aca5-9b4728fa872d phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:43a2ac78-ba84-4b51-8506-53ca6cce3186 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9b3fe71b-cd0d-4879-a10a-cab2dbb8e059 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5498f5d2-ba22-4f9f-aa69-d930b1f4a750 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:dcc33b13-2d4f-4560-9a0e-6a23f997e12f phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:28fee3ae-48b1-4551-8a50-68fff5e14e89 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4877c41b-a155-4082-ad16-456bf3315147 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:098acbff-cc29-435f-8ff8-f852d19c752f phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:14cf6af2-c918-4bba-91a3-dc966b3085f0 phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:961ab503-3749-4e5f-9e03-7cb25db90241 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ff05f5ca-0146-4966-81b5-4fe553739760 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ed2a9f82-b390-43ce-acf0-f2ee8b5c7404 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:8ae3df59-21c6-4dd7-b62f-a48969804f66 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:272b065b-434b-4ffd-b7af-42b92f44abc5 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5bc6ca4d-ee4a-4f64-99a5-1d582edb8741 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:44b7c776-792d-4cd9-9ccf-1ed937dee23c phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a402dd91-eef3-4cb4-b7a8-132d4566e9ad phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1f1ab2e4-1153-45bc-9dc6-3bbb5bebc5c2 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b63a829b-11a8-48eb-aee5-2c63cf85baaf phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3374d9bb-fac8-4c68-a652-a83e87f52469 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fd43a816-324d-457b-bc3a-36b67f78ec94 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6cb2495c-7835-47c1-9452-ee12bd6fee60 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4542d604-bebc-4823-938b-2f6fb5e315a5 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9838923f-05cf-40dc-83fa-1482d10f3dea phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:7f9e4b32-67c3-474f-942f-525ebb3b91ef phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:ea314262-be97-41e5-bfe6-5f7c4c6ee4b5 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15710732 uuid:51ac18a8-4242-406c-b5d5-8cf59a763488 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15710732 uuid:9943dd69-3c6f-4ba7-90cd-6b855635695d phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15710732 uuid:fdd6eb32-bf9b-4229-a60d-c98b84cebda6 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15710732 uuid:d572cba5-467f-475c-8504-15e1cd032ad3 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15710732 uuid:303da8ba-0190-4d83-991d-456f42da056e phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15710732 uuid:333a5e63-538e-4530-a421-48a5ccb73e76 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:0815d16f-ef01-493e-b7d0-5f1a469dd16b phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:295f494f-202d-4908-9df3-2fb88f8f7996 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:7a183ad2-c4d8-4bee-8955-d230b4dd49ad phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:687b4449-0075-4969-87e5-841e7892d48c phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:a1aeca3b-ee6d-4a9b-958b-ebb6cf38856b phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:e005f80f-e8cd-4142-b044-cb88d6a07090 phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15710732 uuid:d1b88e56-fe88-47ee-8da1-184a8d6b5acd phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15710732 uuid:9470a59e-01c8-48de-a2eb-c1ac69dda86f phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15710732 uuid:d0bb2acc-50c5-40c5-a86d-e6ea38426265 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:433d7169-465b-4243-8454-0e25641c8caa phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:406ceaed-c7c8-4f24-8bf1-ac03c63cf9ab phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:364a2280-3500-491b-b147-055985ec2ddf phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:20b4d95a-e8d9-44ef-9e8e-e8442469c433 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0001233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33866394 uuid:4fbb2723-4b95-4998-83ac-7c75a41500d1 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:1bf32510-16ae-41f9-9d77-029208b191b5 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:0cb31b74-7250-457b-bd39-0b3bb9c061a1 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:611afe78-72ad-458a-bc20-1fbe9b1d3f33 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:29506228-f230-4d23-adba-2fe4394faae1 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:e9645886-bb65-4a80-a363-4d7cd1ece58b phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:9968f749-ff30-42b7-9eb1-19cc380710af phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:f6f4ae58-bc1b-4d56-afb5-5fae61c169b0 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33866394 uuid:3d479590-0b22-4c8b-ae86-fe653563deb6 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33866394 uuid:4b4591b9-5c2e-4c54-a1f4-bfbd3b1cd7c8 phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33866394 uuid:bc8986e4-a09e-4f4b-a7ad-8bcf1a23bfcc phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:4d236efb-2fdc-4ade-95bb-1c88b7470697 phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e9f6ec45-6c7a-4c5c-93c4-af3282a3191c phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b6073bc3-789a-4682-992f-ed3236b10753 phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6e93419c-a4cd-42be-8114-aa80a6710bdd phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:82085cf3-7c81-41b9-b8a8-58e7c4850331 phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:2b20576c-4062-4e89-bbe7-59cf0114a7c3 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:c02aa2b5-3d2b-486a-9566-9be4e74021ef phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:40e6acaa-ca6f-42e0-a736-45ca1f99a8df phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ee6082c7-6a31-40ea-ab65-58a109ee1b73 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:33e52e76-e07e-46a3-8cf9-9ccef06fa25e phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:21948896-bb69-4c7d-bfa5-87f16ec94f48 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c87fc232-e9af-494a-82b7-7783e2d44ddc phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:66644f9c-bea8-48ad-939d-0cf0801fa618 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:dc216ce5-5e4d-4107-b95f-6246d84a66ad phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7237f2d8-a629-4506-94aa-c10bc385a937 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:0b7dadca-c20c-446b-afb1-be9a5555812e phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:6f51867e-cc50-4298-bdbf-879ea472e93b phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:0512c071-bfdb-4b0b-a547-2abc25ead68e phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:35f4f61c-8b64-40d4-b6e2-cf82635e5b0c phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:ec626c0c-7c45-4c44-a020-2c019a12aa03 phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:b121261c-5eee-498a-b676-c0661564f4bb phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:441b7a8e-0268-4b8a-a236-ccfb9058e58c phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2ac9b3a1-81fc-451c-9766-5055f4dc786c phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:35ed8b33-e0e3-4b3f-89fd-a19bc6c04bf5 phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6bb73f4f-d0b1-464b-a9c4-86409ed1cfe5 phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:38487627-13e6-4bf2-b15d-c95204a59eec phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:bc0c5dc3-d386-491e-a7f2-e835f21c56eb phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:be4a2405-7a2a-4226-a9ca-5b706180475c phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6058ccd3-68ba-4677-8c61-9818d7ea76af phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f0f226ca-c077-4cba-95e4-7089df0513e3 phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:beb3d43a-65ba-4e53-becd-e23b4458129e phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:99d14054-0334-4744-aee4-33949a020a3e phenopacket.store:TBX5.PMID_16917909_620_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:acd61df9-3c68-46a1-a930-7e1e4195f0f9 phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:066cad9d-0c5e-439c-98a2-6d04a471af97 phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2419d1c1-77d0-48c2-a576-2b3fac60dd9a phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ab135da8-4107-44f8-9bb3-b9b94c51ec5b phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f971e0c5-06a4-4a72-a83e-48dd7104f79f phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:58fc69fa-a594-458a-931b-ca5f3af4a259 phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:051eccbe-525c-4d5f-92a6-e6d031d29d5b phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fc1a54ca-2b78-480a-ae49-9f0de10e7297 phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:47437215-d3b5-4926-85a6-ec264a887749 phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:06997a79-98a3-436f-998f-c8d1bdb92eb4 phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:579429b4-5281-4a78-9ff2-88f18200233e phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:a96dfb1e-87d9-440a-a9bd-c772ce31e9ca phenopacket.store:TBX5.PMID_10077612_Family_B biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:1823ce1b-3b12-4598-a42a-20ce4ba14d90 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:0f7ded08-5ea2-49a7-857b-9ec42f4dfb91 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:c972d7e4-9d8f-4436-9348-a01264f3bb75 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:d6cb058e-368f-4005-8dbf-af68168546f5 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:d67370ed-8ab4-46ae-8afd-ad0a3715035b phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:6d194f5f-ddc0-45b5-9640-e102c415ae8d phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:a29a743c-07fc-486e-b9f5-0b1910013488 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:e0467467-5167-4f08-a20a-6f99c9b9447e phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:ee0ab6cd-a8ad-4664-b658-28800cd43df3 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:55929d4d-d520-4c36-82a2-073c52ec7ab3 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:1879ccbf-5820-4e84-a7fe-18d8c5070aa0 phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:374b62b2-eb03-4140-baf3-e16ae49ea44c phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:f5b1339f-ed05-45d2-97b8-6ce3d3a2018b phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:d1e9c12f-c7d6-4eaa-b9e0-d9420455feba phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:8eb05969-ffbf-4f11-9dd4-4831812a9551 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:4635bc06-ca56-4c58-9658-11011bbd2241 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:34c78f47-2227-49a3-b86b-a2f7a43bc329 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:9d9c418b-133b-48b0-9ec3-2d7175c44f4a phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:13d620ac-c0fe-41db-958e-02c7bdc1a0ea phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:de6ae9e7-c2b5-4687-ac78-6dc4ccb7b5ba phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:0f2ce23d-3ee5-4ecd-90a1-cf2b36616cbb phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:e567ee42-1d08-407e-b6f8-5258b5b3face phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:de917e84-ac2e-4c8e-a1bb-2e053e6073bb phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:6c051612-e7f7-4828-be61-0f68dc22b7f5 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:8bf9c2b4-6e3b-48ba-b3f2-c576e71d99e3 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:243cbbfc-15c8-4d46-8d94-db1b0a409410 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:6dba2b82-d226-4d36-ae17-4444c8a15405 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:efdb1fb7-203c-4716-b7c5-76cc95e1de8b phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:2bbf48ec-3775-44b4-acf6-97242f52fadc phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:c1689938-95d6-4be4-9245-496e40b89700 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:9ad9fb72-766f-4d17-a7e0-c341a5555e46 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34490705 uuid:0de85b1f-6410-47a8-9dcc-ffa438f5ce30 phenopacket.store:TBX5.PMID_34490705_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34490705 uuid:2605f62e-fa73-4168-9002-bddedd38053a phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:f1a6e64b-983f-43ac-87ea-d25034d4fa39 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:dd7641a2-fa19-48a8-afa3-513a16d6eb05 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:ea0f22f4-ac1a-4beb-b67c-b6c8c34f82db phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0010035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:bc6895d2-9057-4a7d-9a47-9c539c205189 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d8bf5360-e129-451c-a624-19cc2d6a3138 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:73eec311-52de-4342-b382-57c8022da076 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d6559f01-f706-46c4-ac55-af3239db6052 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:5f24005b-e217-418c-90e9-fcc17907f03b phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:86198b60-8af3-4b7b-ac2b-fdc9dd0f49a2 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:9e9516aa-551e-4e71-b742-d7d88945ced5 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:4788aa84-622b-4ddd-a09a-2f5dc0505cf4 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:b7dd20d5-2314-4f3a-8299-51c2f6a4afff phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:474e607e-05da-4a6d-b7c9-b87f177a9796 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:305516f5-0ff7-4cdb-8635-681ee1048a69 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:9cd7daf5-f80c-44e4-8b5f-ef48f01a4459 phenopacket.store:TBX5.PMID_16917909_706_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:a3b1947c-3cde-4b7b-9a1c-75c43fff4b18 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:b8834301-5187-4093-88fb-ed0b25b1ca49 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:faacb710-97ca-4274-9723-58efde69d606 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:dacdcaa5-9c40-4141-aab3-13752b78faa0 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:c70e3249-ce29-48ed-8ed5-416e6cc78bcd phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0011995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:b7a52968-b0d5-41b1-ae2e-c8d67ab1b55b phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:592e3029-9235-4f4d-97ab-ca2628dc027d phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0009824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:fab67f7f-8343-468c-b00e-64be4cc8b7ea phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:23616b05-e5ce-490e-9050-5eaba604a0dc phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:50e03aa3-6d18-4fca-9c43-57d6ffc724a9 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:d84acea3-3852-4911-9beb-e06a241832a0 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:b83d7d39-9b7d-467c-a1db-15725d62f34e phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:9bf8ae14-cf17-4b94-ae84-9d5ae16bba5e phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:db3c93be-2ec1-49c5-ab82-c0d4303f6129 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:6a357083-7658-4de4-bdd7-8f3cedf61f3e phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:23f999c6-fbf6-46b7-9f7c-4ea7f0b44754 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:2f7f1504-fa89-41fa-a84d-1278fff99892 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:0d71c26a-d31c-494c-9e60-84a8495946ee phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:3edf280e-78bd-46df-a471-79e23397c5e1 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:b0c54d38-4844-4402-939e-1419b061740f phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:b07638e8-0a11-4a42-bde8-31de8e958324 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:4c25d6ea-99f1-4ed1-ac82-31db4581cc47 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:e566fbd4-83ba-4b01-9350-5dd236bce458 phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:c713a7f5-6bc7-49bc-85bb-de16288de55d phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:6ddfd3f7-4030-41d3-b848-ed36f79b40e8 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:36c5dd3b-9df1-4af9-9719-bfb5ecebd994 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:5a4a88f6-3856-40c7-9234-fdd55c7a47e7 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:5b9809dd-6ef4-4cca-be17-4d60cd897ab7 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:322ff4dc-596a-4ef6-8670-5746c4ad6c60 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:66010106-1bad-4891-93ab-a3705d85553d phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:b0956ebe-27d5-4cc8-b0ff-9345ed5f9e96 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:b773c56f-474e-44fd-9f63-742a28fa8a4e phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:efe61828-a1c8-4c69-a29c-1a6825a4147e phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:3d45d91c-a49c-42e2-8065-2beb7874a43a phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:8d306318-706a-418a-9cd0-f39d1104e694 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:74739b87-a7b4-4431-9af1-af053a4e3cf7 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:686166dd-3721-467e-bec8-e5f3ae165db5 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:cb0ccf16-9697-4c06-94fe-abae966489b1 phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:e2059e09-344d-48d4-a471-f3b26c6fbaa5 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:3ec3787e-4d6c-4a77-8e94-670558d8c197 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:0ffb935b-8245-47ab-b2a7-b1d01915402e phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:7987697d-9c1f-40f6-a0de-e2082fdb870f phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:c8636542-ce02-4d40-b4e2-81f1e5f70a87 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:1b89edac-9bc6-469d-8f38-b97b14e5b4e8 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:503c8c92-6af3-47bf-9c4a-1bcfa678646b phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:8d6c9483-9680-44f8-ad53-96d4d7746bc1 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:bed11084-2ecd-4cfe-b44f-62cc34579a32 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f1f79fb3-9e99-4ee8-98c9-1b6ba250b54f phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:fe5ed0a4-305b-49a9-8568-cbbe05116725 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2c9d3723-1880-4191-92ef-ddb91c9ae326 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:8d967247-efe2-4c5d-acc7-95c0a5511d9f phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:e719e60a-5f30-488b-b5c8-4fab1ff41dc3 phenopacket.store:TBX5.PMID_16917909_603_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:08aa2e2b-7517-4834-ad7e-cf4bd1654e6b phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:e8b5c594-4396-42cb-98e6-9d7b6e1b0eae phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:11bbf731-e419-4c1b-8c38-4a9ec794d41b phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:b379b46a-915d-443b-969f-1941766d934f phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:17ecdc1a-a893-42b4-9ccb-07e06ac269b9 phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:df67062a-bace-4a91-ac11-81657f138add phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:9143a642-6df3-4be2-bcae-6d74455303f5 phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d3f043d2-af55-4b37-84ab-6c4b024f4656 phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:8633c2c8-5448-489e-bc3f-03c3d70510d6 phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:bbe3f477-3332-43b7-8d7c-0c9b5a4e34bc phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:a250d6d2-c3f1-4757-9fc6-50490ba32795 phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:6225d5ea-5288-42f7-9416-5ffda41ca995 phenopacket.store:TBX5.PMID_16917909_667_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:332eded5-6138-4f7c-8e1c-59e60719a71e phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:def0667d-d5e4-4b3a-bd49-317b740764cd phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:d93510a1-4ffd-4c68-9181-84e02bd16eee phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0030241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:90846c82-6e7e-405e-8552-347da43f74e6 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:e962eafe-2c9f-40e1-b61b-f23ba7aeea3d phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:e6c95cf6-e3bd-46d7-9949-f991a47ea17a phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:15992ec9-a55d-427f-8bf6-9bc6d786ba6e phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:e5f2b19e-900e-4eaf-9733-757a8d655067 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:d922dcd4-47f5-4cbb-b5e6-d27e707c155b phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:760c831b-0ab0-4081-89ba-fb32e3dc7720 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:10388d4a-8c16-4aef-9153-0bdf7d416e05 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:2cee67ac-fef1-48a7-9c7a-c4aa69b637f7 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:d2c0dec0-d17c-4da0-9dcd-a7e625459f63 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:6206d64f-61d3-40a1-af3e-919b5b6d4b13 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:c5553f2b-0cfc-456a-8a2d-07f3e779eeaa phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:e57ff3e9-3307-4e66-afc3-28704dd084a2 phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:4721a085-a10e-41e9-bc46-42182f6d6d82 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:edff87ad-7c3a-4d4b-9c85-78e888e22273 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e313bd9f-6dde-4085-9fd5-ae48abfe1db5 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:5bda390a-29d0-4a82-bebc-2841b68d3f78 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:6fbfdf23-ff91-4402-aae7-4a5e7c85c4c0 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:b707f04d-0066-4d64-9b09-81c631559bed phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:63252271-b764-45dc-8175-e47274bb3fb3 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5704e164-c48e-496f-aca1-40ba300dc591 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:888686da-1e82-4f53-80cb-f393a6033d85 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7a0d3718-be78-42ab-8382-fc36ef85addd phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:aa889ec2-912b-4939-b33d-4e642385b608 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fcb69d39-ee34-499b-ab78-6266682ab030 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:115a5030-5fd8-49f1-b7b3-defff19340ba phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:410e9696-c24f-4fdf-9a59-141735a3c3e8 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:1258de9f-a8b6-4bcd-bc7e-28248fd5f512 phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:b9fb7bbc-0771-47d4-837a-1450596e4218 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:2a7edaf0-ce87-424c-aa76-aa7f0ebb679b phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:08e2bda7-ae3f-47ea-8894-d96a874e3ee6 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:f54d3d1b-7305-4177-99d0-e49a2ba13d28 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:8f5c35d6-28ae-4bd9-911d-eac807ae58d4 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:c5316d9d-adff-4c7e-9ed7-f228fbedf559 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:64a651a1-3a7f-4575-8bbb-289ff1ba4875 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:fa9fb3c6-9150-4df7-a687-9855edd786f0 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:bd81eb0a-b1a7-4735-8fb3-981c3cdece9d phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:97321aab-4e00-4c05-8b87-d287884d70dc phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:26a8f10b-7c7f-4726-a247-5a51c3fc7a2c phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:99679927-78e4-4d23-8be7-f29f81e57c8a phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:8cb953f3-fb1a-4acf-9fe3-d4edf64d322b phenopacket.store:TBX5.PMID_17534187_HH20 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:13c10b9f-2ee7-47d4-bd53-a4787938ad0e phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:e8d9bd2f-0b7f-49db-8e57-74dea595a5f6 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:901b2e63-5f6d-488c-ac2c-541a2660ec30 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:c11ef844-1976-4e4c-9ad4-27f3ad8fa779 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:5ca31927-0011-4ac2-8f3d-319c034ae24e phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:49cdd99e-ee38-4dde-a83f-8acf23ba45e3 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:40ccf9ec-adc7-47be-9743-27e6a99a26ad phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:2d7aa902-ea8c-4a43-a9b5-306a9d317755 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:43185325-e4e3-4147-878b-942ad7fd109c phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:2962505d-36fd-457c-8f9f-c1fda770a469 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:81c485b1-f189-4a42-b525-a566f52b49d5 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:ca7779a1-e799-4412-bf3e-6cd3f909b300 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:3347c48e-7b20-4499-8c5f-ddc9945fae83 phenopacket.store:TBX5.PMID_20519243_5_index biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:27829626-8e6b-4fd8-aa24-63f4253af083 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:11a5f003-9677-4b4e-867d-413170bde450 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2f93563d-e998-470b-b4c9-a7ca2b02fb55 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8d865953-b952-49f8-a45b-6ecbc33fc39f phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:aebfe712-5040-48de-b35c-284d6237a831 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5ac8facc-cd74-4cf7-bdd3-3d7c1a1c4d7d phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6863a201-698b-485e-9498-ec67fbafd208 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:39c2ae35-628c-4631-9145-6f9cbd93e837 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a12b21a3-6183-40b6-b5fb-89a7ba5221ef phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:22cc5385-fd60-4368-a3b4-3ae2c5551bb9 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:b7ae804b-3541-4020-af10-14b49470c96a phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:bfedd7a1-a537-4fbc-a2fe-e307673517f5 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d9cfeb99-7093-4051-bab3-7467211309d8 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:3beffb76-f3f8-45e4-9755-8025599d15b1 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:36de64e8-9c28-4e3f-b951-ff4086f38958 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9550a2f2-fb28-4093-968d-325ae16dd76c phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a628657e-0121-470b-bce0-107fc69d7098 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:14e5174c-47fc-4fbc-959f-13e6efdafcfe phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1d40c648-9070-42e1-aa1c-64c550e3a394 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9d7d1dd9-e9d2-4321-b474-e8918f0878d8 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:431b7577-23f2-4073-b3dd-d7c95c8b785f phenopacket.store:TBX5.PMID_10077612_nan biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:fcfa0da6-42d5-46ac-9c28-0c301a002e29 phenopacket.store:TBX5.PMID_10077612_nan biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:60ac4ea9-65e5-479e-b5c0-4d2e4d78537b phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f3a98ab6-a6c5-41c5-b86b-d4adc48de1aa phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:04d12900-2111-4467-a1e2-70bca5a940f9 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:c60fa7d5-a005-4467-8cf7-19e36976096b phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0009535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f8a87b28-eb6c-4ccf-874c-1f3ae123dd05 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:21d730b9-3550-4429-abf9-64824a3719a6 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:543213b4-ef65-47f9-8203-e9ca83f93375 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:80f46458-b41c-4019-a5ac-f9947d9394d9 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6f278088-44c3-4150-b11f-9754eba9cc85 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fe731212-5f66-4793-8524-066408e1fcf6 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b19585f2-5c38-438a-ae3f-c8e07fac075b phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cd09152f-865e-4c68-ad21-52600355971a phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:63bfa112-f543-4b88-8911-cb1179a1519d phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5a9c098d-479a-4a39-a3f8-54b2a9c47950 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:a73b73fc-b77b-40a8-aecc-4ef7a6f4b9d5 phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:080767ba-a176-418b-9857-0230906b4450 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:df0fffc1-e838-450d-a80d-d3b9baf124fe phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:567283cb-10ec-4c68-94fc-fe3cf4d9580c phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a9c43f12-946f-424b-8947-ed7f349b7a77 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e650446a-70ac-4da9-abbb-4fda221fb613 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:58c45c02-80f5-4bdf-ac26-ada047df611d phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:73660aeb-25c0-4f25-aed8-4c358a66ae47 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a571b0e9-2f24-48f2-8fa1-2a38906d5d8b phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8eee4429-baaa-464a-b238-d8523101916d phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c670b582-d466-4b41-b4cc-dddb7be62d89 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0764459d-26e5-4f78-868f-efe851a893e5 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3338e71d-0a82-42bb-8baa-349fe60c3e53 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7c9b357a-5322-4a1e-a9f9-9e8330a421fb phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0bff2dcf-0df2-466d-a2f6-05160235b681 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e11d4ccb-9b96-43e4-96e0-743b60bbb825 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:f667c546-6d16-4316-a561-fd384c1555e0 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:f36a22c2-7447-4db6-bec7-1de6a2cc7609 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:0373c9eb-5016-4135-8c90-3fab7ccc2231 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:9f8c7e60-04ea-493c-a12a-404e74b504db phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:a39c366f-d808-4867-9972-4b88d1d97ee5 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:91ed1317-0313-4d28-8411-052ad4c5f60a phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:761c3253-5f17-4ebb-be3d-8db6870cc9a0 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:882c6e16-f6d5-4f05-940e-0f319aa092f4 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:9dc93666-9bae-432a-8152-c66283b89216 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:114833e3-4eeb-424e-acd0-5f721f3a257f phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:652e3fb7-8644-456c-acdb-940778107bbe phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:4dc08f47-ace2-4e13-8d47-be537366b902 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:dbc45fb3-d833-4278-a95d-05b04aacb382 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:fdc86d7d-1d6f-45da-9867-8b1433aa993d phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:46d66f07-5631-42ef-ae48-d06b17b7444a phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:147ec90d-4516-4fd8-b276-330fc80aee55 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:38875967-1343-4921-b9c9-e6983e435230 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:5da7586c-ab50-497b-a790-2f0faf4cef54 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:ce2d6289-c601-4e95-a210-b427c2926f04 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:a5cc4944-15f8-4a0c-9d43-a25c3325b7c8 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:15f6e35c-77d6-4bb8-83c4-05de63d498dd phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:ee5352cc-0913-44f4-9087-eb99e6595627 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:eb0a3621-896d-4490-9f77-c28420005dcb phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0001688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:9fe40d65-498e-4eec-90e4-75c231907b62 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0009622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:6ba8aad1-4c53-48e2-8c4f-a210565d0de9 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:f947b6a9-b620-40d6-ba73-b689ed395c25 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0000960 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:81e4cd08-c003-45b2-be47-bcb0949fd03a phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0011567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:1d96cd05-3f85-406f-a4c4-1c4b5b9241e5 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0011705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22190901 uuid:90adf945-1fac-422f-aed3-a292c5da0326 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22190901 uuid:cea29835-16a1-4ff5-9a5a-b717702062a2 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22190901 uuid:fcc1c32c-a639-4af4-bd76-3fc822446721 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22190901 uuid:b1e15689-64a1-4d2d-bb1e-f4dda8696426 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22190901 uuid:13f8789f-65ed-4c72-a9bb-82410962403f phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22190901 uuid:09e4d748-7015-4342-b630-a7135d2f306b phenopacket.store:TBX5.PMID_22190901_proband biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22190901 uuid:664c98b2-2ce6-41dc-a683-c7872210879a phenopacket.store:TBX5.PMID_22190901_proband biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22190901 uuid:1db6d6f1-5cda-4c57-8dc2-26e1c119d496 phenopacket.store:TBX5.PMID_22190901_proband biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22190901 uuid:75a6ae96-c020-4459-9bd8-caaf3ba7febb phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:1a8f460e-5744-4c7d-8017-5c64c1e636ba phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:44008681-e6c4-4ed4-b46b-e97542eb92c4 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:704c084b-7733-4bee-898c-c1bda4379f15 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:b2cb5767-d9ef-4fd4-9205-84ffd476c70f phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5f180d30-8496-44b0-b62e-2acec7b6b4f7 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4033bded-c186-45ef-8df8-ad88a03aa7f8 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:41654095-4f46-416a-b447-402508f62ce5 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7a007b79-0e95-4d23-928d-77643538fb53 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fc4771f6-c5b9-4540-8871-2d6ec2ecfd69 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:47ce50ba-f034-4aec-863e-9f4bf30b35aa phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d92ece76-47ab-4ef9-a2e9-c76cc402e29f phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c2d3d117-5e16-4de3-ab6a-86f48ab09776 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:9b0e3b78-4797-40f7-81bd-57745f0d11fa phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:fa5af6c6-a821-4567-8e6e-fe72dea75e1c phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:e922d761-7c6b-4b80-9846-74e422afae77 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:4128e0b1-0ab1-49b2-97b1-c543b5f22f42 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:d8cb38a6-4113-4423-8c22-de027fac259f phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0030241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:e541be21-790a-41eb-ac86-11407b631a62 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:bd64232c-7f92-4fe4-8852-02cdb2c55da6 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:74d5c5ba-6692-4ace-8ef6-8fc776d03690 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:1235828a-6fe7-4b1b-8363-fbeb061a9609 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:c3ef90b1-f352-4079-b739-1337becbaec3 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:fca9e6bb-f751-4e59-8fb0-e93192706f70 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:2a96e34a-1949-46e5-b78f-3782d8ff3b60 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:069bc2de-d1fd-4402-b1f0-a907ff327a26 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:a5c7cba3-86e1-43f2-887d-9335721479bb phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:65d1111b-6c99-4c08-a619-690601931911 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:19b994b4-c165-4c1d-a499-883164c026de phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:d97bb873-758e-493a-90f3-f35875fc8259 phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:bd61a6c6-9bd0-4427-b1c0-58a0438d8405 phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:dd9044f9-cf81-41ee-9804-e5f06bcbe8dc phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ed427b7e-1df6-45fb-85d8-5bef4f23a5c7 phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ee93e1c1-0d04-4ce4-8fa5-3a3e62e04e9b phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:20fcf6e4-f80b-4f61-a1b3-19c68c60cdda phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:95a798bf-86fd-4d13-92eb-ff412b306113 phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:63bfd409-2397-4159-9b99-20e5256cd189 phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:5a8bd1be-e13c-4596-a08c-6e01e4c983d7 phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:ca6ef47e-aca9-4977-b4e2-671ec10cf5dd phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:82b61a46-1d60-4719-83a9-ddbccff7adeb phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:db448c26-ba68-473c-b187-a4885292f63e phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0011927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:4f1fd3f9-26ba-4aca-aa16-5565f614f3c1 phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:934617b6-9150-4da4-8dd8-425c11ed6add phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:19f63daf-92b4-40ef-9a7c-11a4bca2676d phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:50edceb6-ba43-4760-9625-32473088d04e phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:1e1e3b28-50d1-4ade-a4e5-a280ad2128aa phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:4b3d6506-87c8-4a4b-b17d-bc86136243bb phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:11c38c10-592b-4f13-9a5a-0d1affd3c67c phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:4b72e292-3d29-4462-886e-961a26387599 phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:180d847e-7fe4-4523-8a82-bd855b6f4589 phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:e2265759-65a5-42d0-b741-f8bab8d9771e phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3c88402f-3e85-41f2-ad20-993c5aa3ec43 phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:cec8aefd-4d01-492b-9b13-8e7b2b0da5f8 phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:121197a2-0925-435e-a9d6-41cafaecfb5d phenopacket.store:TBX5.PMID_16917909_370_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:eaaefc49-6b98-43fb-8447-c8c3f77b79b0 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:8a33b3a3-36cb-49d6-a047-1734e23bbb1e phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f53a40c2-8578-438d-b2b5-e8a468d2fbe3 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6f455cf8-0d3a-4cfc-915f-9f700736fd0e phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:e074e7a5-b483-40fc-87b2-f0fbb63c738d phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:e8a0e8e1-0d8e-434f-9eac-dc5c45b1037f phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:1c1180d5-871b-40d0-9fdd-3afd03374300 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:43f80b27-b8f4-4003-8b86-b1808f440aa8 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:4b4436b5-64d8-4389-980b-aa47a8f637e6 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:efa86e23-cce7-4528-92a7-8cd546de754e phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3cf5f0e6-16d0-42c9-9846-27a2831eb523 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:65585345-eae2-4fce-b469-3a3c6c603a79 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:160fc15d-691d-49cc-aad8-fc433e79367a phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:cee87235-6ccb-479c-b593-4c75ff7f5894 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:ac3fbfd4-ce5e-4cd4-aef7-2ac34c067c79 phenopacket.store:TBX5.PMID_16917909_666_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:0bb7ee67-1d8c-4abb-9ccc-876ac294ec7e phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:d228d37f-7647-4b3e-8f2e-d1f1130dd82d phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:f1004526-e91c-4bbd-a15b-283d605515c3 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:37f2ccb7-5c6a-4ba9-b6f9-2d665336d5eb phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:a694f329-51e5-4900-ae18-7abd5e25ba54 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:b11cbec3-dd68-4a8c-9b5d-f9a71207bfb0 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:1a085211-c235-4860-b863-9d1d8f2f40d3 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0010704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27552067 uuid:9e3c1029-72bb-4ff5-b31f-753b52d056a9 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27552067 uuid:8787faab-6f4c-4a0a-8744-d771e47544f0 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27552067 uuid:4c73da41-4f4b-490b-823a-f5413b1d3ade phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27552067 uuid:a5b2fcaf-d61d-41db-beef-096fa6e5cb4f phenopacket.store:TBX5.PMID_27552067_girl biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27552067 uuid:081cd28d-57be-4874-b73e-d1c3d639a2bf phenopacket.store:TBX5.PMID_27552067_girl biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27552067 uuid:5deb1023-0e4b-49ca-97fd-fafbad3b5b07 phenopacket.store:TBX5.PMID_27552067_girl biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27552067 uuid:d918137c-71dd-4169-80e7-bb290345cceb phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:1a70dcec-ed07-46d7-a205-651fd07a9c6c phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:5f67e891-1dd4-4388-ac97-5d1fe5c85d7b phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a29988bc-91f4-4960-a790-cc6e0853bd7a phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c91ab36b-aa67-46dc-8f2e-91993a133e1e phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fdad6777-3a59-4319-994e-a8f039c02161 phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6bff470d-5bd7-4740-a9fd-0ec98f096bb1 phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7c1640a6-0a62-43e4-82b2-115f6565b3d1 phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ba5c1c1e-4abd-488c-92f8-e93f98076a2b phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7849f061-5eab-485d-a8d2-4529bb781537 phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e86e2aaa-5b9e-4ead-9993-acc998633ddd phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:aa4c00c5-c01e-44ee-bef5-e53e5c394b11 phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f360df12-e96d-49c8-809b-026e6681c090 phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:fd95dc68-25c1-4a9b-9931-19a54d411b0e phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:92f180ab-4c32-4733-9f3b-15fe52962605 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:49e79c8f-06da-44c1-af76-cae79e06b01e phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:8ae413e0-ac15-4023-98ae-4c49999f3504 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:74c6398b-ff91-4f08-bc57-ed269e05ba02 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:2a4bcf4e-0921-45d7-b097-90476f9fac2d phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:543f0457-7cc1-4260-a4be-52c7902d6752 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0a946e66-6d5f-4789-9736-411a31de4e60 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3b300856-1989-4159-9efc-14999e41206b phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d2912add-4b4d-4aa2-ad0f-9b868d61fab1 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ecfa18bc-5323-4482-9d69-11dbc065485e phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:dd6e76c1-48de-4820-8c71-7fc15d7f47f2 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:77b0f8cf-55f8-4fdf-a5d6-31bbb7a96dc7 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:710b6e43-867f-43d7-a015-41b88fb4c79d phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:828f8fe5-b92d-47a3-b02e-23dbd29e627c phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:340ea2b5-f21c-4849-a3a2-2e52aa597da2 phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:1e670704-8329-4dc9-bad2-ad2e8f9cf38a phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:c7c0bcd8-53d0-423d-9a19-bef1072b27d5 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:2e9700ad-99e0-449c-9739-ddd4a8a2eb82 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:21a2987b-456d-4971-86ad-92e884c63a5c phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e78153b8-837e-4163-a4ea-a52df3537705 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d13aacf5-1983-412e-8af6-7417bffcf709 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1a80c7d9-7523-4b38-9b44-d7bb79b136b1 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7b34dae3-117f-45aa-8cf7-e7ad29abe07e phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cd6a26ac-a2ad-441b-9984-fb85cc73a9dd phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a48faeb6-d527-4334-b873-b3be65a66dbd phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:201691c8-fb4a-4c6d-8fc5-da89e5ce7c56 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:171cf80b-e041-4c47-a772-2e6fbdeac50c phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7a8a91fc-38f8-4acc-a1c6-0378440ba5c2 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:65f56f94-9f33-4925-a721-dff5dc735056 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:700b6d6b-4a24-4327-8bb0-77667841af95 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:88d4ccdd-08f0-46f0-a41a-b38294eec256 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e2b86195-3e72-49d9-a646-302fb6176b99 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:110ecbd1-1c4d-4d82-b39a-7fde6620a441 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:0ab41604-2962-47e9-b94b-50853976c717 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:54b4fd61-1b91-4df5-8cab-e818c0e2d68a phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1493c41a-cea0-4802-8b8d-93289a9ee861 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:67283906-5e2d-43ce-9be1-305b6e8bebf3 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b87064d9-9552-4560-bffb-e6c175e86a28 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:00260f18-00d8-425b-a63b-c605c390fd64 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6569959c-6543-44f2-87cc-71638f183550 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4ce4c298-96ac-4e37-ac1e-307fa00cf605 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2eae508a-eecc-41c6-8f1a-4048d6829f94 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f0f1a646-22a7-40e8-bc2c-8b5dd3313e20 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4bad0e7f-b016-48db-9a9d-bb708721cd25 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5bd57645-a063-4267-b69d-644041e4dd69 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:41ab5997-64c8-424d-979b-a9305325c26c phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:86ea74c7-0961-46db-88fa-f5b4df5ec887 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:14d69938-baf7-4c2d-b8a1-9259c9df67bc phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7d54a74f-e1d0-4bef-bf1b-6d2409db2ab1 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:49911b17-3bf1-4859-96e3-9f427d204640 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:52316095-a0cd-483c-a6bb-47b3f925065c phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:49a512e7-3a04-41d8-9ebc-53b93eb0913d phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f0a570c1-05ea-4bb0-81a1-7d41adb9cd81 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:2e34c126-d2af-4379-a5a9-ee32d70de00b phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8633ade2-4b91-4842-a1b7-4db4939d50eb phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a49be795-7ac0-49fc-b8bb-19651cf29a5d phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:47b8d443-f862-45d4-bed3-4bbae6426ee6 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:09dba9d1-ecc6-4294-b413-ba7aefcc441c phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2fd9490b-bd53-404a-9b9e-71ca9de8ec18 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ca5c0d4a-9dec-46dc-afcb-309287a717cd phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:baa927f9-d684-4eb2-8116-a2af9f22612f phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:90b6124c-1e7f-47b2-82f5-5ef63f6fd1fc phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a0ebc2e6-a987-4203-ae84-dd8efae3b01c phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3e9dda10-2101-4e48-9b7c-f8d81fab7efc phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b6aa22e5-9565-4753-bd7d-d9650bd3f40b phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:21121a74-3be3-4f1e-9c2d-1686742045b5 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:07fb476e-ae7c-43e3-9f90-dd5ed03dec07 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:34b9d000-f070-4cf4-9efc-0f409ed4d6d5 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:be466d12-f94c-4ca8-bd86-51f92ce5c7e5 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:e1953845-bce2-4012-9230-5bf2a4965659 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:4a32afa3-29ac-49dc-b494-8d9a83449905 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:d7436f6e-e1c5-4777-b734-aa4f22b99a28 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:2b21b7ec-75bc-4e19-a410-2aa0d44929d9 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:752854c1-c395-41b4-a10f-f346eb30d3ee phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:1fc4ab8e-e732-4d25-98ff-881e43ae24e3 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:f27d3ffe-a1ae-4d83-a344-9f85dfe3043d phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:42cf1bc3-1ac1-485a-af08-e618b4de7923 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:3128a1e3-4ce5-467e-9b88-8ee366cd3f14 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:71410675-0dd5-4e5f-88c4-082792ecefaf phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:c0a4bcfe-7dfe-47a5-8842-34ec3b220a0a phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:96c624e4-162c-4b11-bd1a-b705fc78977a phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:ea9e1312-f51c-426a-90c4-18785c3e49b9 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:cccf73ee-bf6f-4492-ba03-b810060f384a phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:2ed9b5ed-5b4b-4f9b-bf17-5db89f25a742 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:698d33ac-c7ac-44ea-969e-125215759494 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:db106b4c-6af3-4322-beec-e756bf6f0850 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:17eb0592-82ad-44a8-8344-8be8e4f5d2ea phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:753d80f7-ec5e-4df3-b7ed-b64b95111f99 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:cda1ccbf-080a-4d04-9802-f6fb3bb19a6a phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:db83478d-0d3e-4b2f-9f3a-b01368a1d4d6 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a2760e63-96f2-4f02-b26f-676b3f4e08ab phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d42ca64d-6e98-4193-9dbd-3b72930fab3f phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:22e4e6bb-96ae-498f-912f-764a1b47a4dc phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:62eb7354-1447-4242-87fa-1fb287d40aeb phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4125f577-92b9-4a36-aaba-ee5f03bed2bd phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:91bf4a84-7831-44a1-946c-e635c59ce8cc phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d25352e2-34a4-48c9-8ace-4384f566b278 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:49e34463-67e0-4efb-af7a-e08097955b5e phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:01725879-42dc-4ec7-9c9e-12b5ef5d47d5 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6c0b9415-df5a-48af-b54a-f67e74544023 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:355a3dbf-891f-430e-8209-81ddc2139808 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0f360399-0152-4eba-90d4-1f15eab5f52a phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:dd90cd57-7805-45a5-8e70-002e373bbf79 phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:a22af54c-0a1b-4a2b-a540-eae1fd32b1ef phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:571c667c-70b5-412d-8532-fc5216f3e4d0 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:962ebb76-b17c-4b95-813c-eb4620d5d1c8 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:e0042a0a-8fe2-48ab-9abe-9afe0f000830 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:e8c51dea-2c2b-4467-aa78-dfb536dca9fc phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:1ee0e252-0a05-4fca-b5fc-eb5b30d844fa phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:87c05c49-1cdf-4fbc-8b92-8a04c8b06b1a phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:0e4538ac-dd5d-4087-8d98-bc89bd0b5c02 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:0bd27a64-7902-4ccf-9f85-695367e88ee5 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:d1a48313-20d6-4416-90c2-5a61f1e8fd1d phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:91fd1e35-2922-426c-8a02-e97c9423d1fa phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:f4bf04a1-2f9e-4762-9654-339374a1db28 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:980cc406-10c8-4a74-aaa6-fd4c3607cb97 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:3f1b170b-3bbc-4a6c-9727-8b914626906c phenopacket.store:TBX5.PMID_17534187_HH17 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:71575d51-82d3-45d9-b6fa-c3998d5974b0 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:51d9b436-41c5-4b4d-949b-42871aea731d phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f6cc1c2f-8960-4c54-ad69-478c066a4c7e phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:52ad3329-abd3-4997-bfe6-8bf5eca2d3ff phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2fe35fd4-d80b-4ed0-9c26-7e4b7281cc29 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:93a5f4ad-5dd6-4e03-b6e5-9207cce12ea7 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:767c8141-f254-4276-9ef5-b5a8484932fb phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f31d2c31-3de4-49d9-afe9-bc797adb07f7 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2561b060-16dc-4be8-887a-04c8bd452912 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cdde9dc1-211e-491c-8fb9-4dbfcd53d0f7 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:94b6e5f3-a94c-45d0-a1fb-ce5ab25517d7 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3fcd6932-f861-4af7-b52b-f3325cb9f6b8 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:fc802dd9-1f4d-4e8c-b625-a8b04dee9893 phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:488c4e7a-501b-4969-8768-9dcc1526f41a phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:4fff57bb-4ae6-48cf-8263-13103c0ee5e7 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:a17047ee-9c22-4142-96e5-b51ccb5c9577 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:1939d207-bcc3-4f79-8f36-7d8c86bfd4cb phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:edc7f925-77d5-4725-b332-a02fbf84ed33 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:68121f2c-24c1-418a-a96e-e43ad496e6c2 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:99e1c9fc-0462-4030-b117-0dad80919296 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bf07e4d3-9d81-41a2-b864-69e7e8c252aa phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:30e91a15-e0ea-4305-a153-363104ef5cb3 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e0893dca-7d4a-45f0-870c-68a93c424dcd phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d404215f-e243-4d54-a6ef-9679dfd02e71 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7846d360-7d5e-4e54-ad86-fbcdaa5de2e6 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:690363cc-f57a-4882-b6c5-939de1357473 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:11b00371-af4f-4466-8699-2adc42f1100c phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:3066728c-8a81-44b5-b86a-40bffff01af5 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:a77b6ed9-539f-4a50-84ed-5ce98d895255 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:b9ff551e-dba8-44d9-a997-359bfddce18e phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:2375fccf-c67f-43e9-a7f3-554c5a4bc258 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:9183c376-e1ea-42b3-8d73-61887501e877 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:5a12a303-92f3-4710-accb-5631b4f151cf phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:da47222b-8339-42d5-8d22-27685494841e phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:230aac4e-426e-4e80-b816-d59b9f1dbcc8 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:ee665820-a9e0-4dce-90fa-a428f76c17db phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:c6eae9cc-3946-453f-826d-7e6112e22d24 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:6fc67082-c76d-434e-b50c-8e406947949f phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:6f8712ed-08d7-4d5c-b51a-1977bef113cc phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:27ce411d-dc04-4750-a52f-1e5dbf5d382f phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:4fcc3000-4f42-4cf8-a0fb-18a9409633db phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:8681ef3b-8243-444a-9baa-2eacc73eacf5 phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:77a4c804-ddae-493f-88bc-6737bb81297c phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:ae49fc64-254f-4aa9-a6c3-70b36d8370a2 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d9e356fc-308f-464a-b707-15a7eb0ac1fe phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3d5ce0d5-86a4-4f43-92b9-5882b9597646 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a3d8571c-255d-4cac-ba82-dc7c4b0704bc phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:aebbedd0-df2a-4e07-9fe2-f33d363799b9 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8e0670af-9f5c-4b20-8f0e-a90fb0c9182e phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9b2bd90f-3dcf-4413-9f88-c394de7d19b5 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:051d020a-f071-47ea-9ae0-bc98d5119c4f phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c7f3a853-eb67-497f-a0a1-4f75b9982e92 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b50af0c6-ec0a-4420-bc22-f006c1d62f54 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:0128b6c0-ce68-4ea7-8f3c-ed4bb9818abe phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e5e01592-1541-4a9f-9e7c-ca98452bf6f5 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d8d0b078-6de2-42a5-a4d8-6dc4e5a4de91 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4408b352-b9eb-4a22-ba4c-42d0b74a191b phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f7398317-4a6f-44e6-8955-714543f5f108 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:c2c9fc7e-b449-4e8a-bf52-6c85b66e310f phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:5376e97e-f6d9-4fde-9258-7059b655d0e0 phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:e1857222-fcf9-4691-9dce-b632de7863a0 phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0004058 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:8a9395bd-2c1f-4cd5-8c21-75794573e27b phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0003982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:4651201f-b9b3-4a79-96ed-3fac1880dba0 phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:94c183e3-5b37-4af2-aad5-801081588fca phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:1d7a33f9-cdb8-4a52-bc3a-2e818132d16e phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:e8df1bb5-41db-4ffd-bae8-54318d2da65d phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:ccc90480-9885-4d76-bdf5-9177753c1213 phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:c73e8e57-b7ae-401c-ba47-3477cfb7823f phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:29bf161a-a872-4b3b-a719-a4c6ad8419c5 phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:749fd4e0-aa98-42e0-98bf-ca25fb34657b phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:70b8acb6-b7d5-4225-aa0d-2ea6446ff72e phenopacket.store:TBX5.PMID_20519243_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:01ef9f39-31b8-4da7-9786-6ca904843bbf phenopacket.store:TBX5.PMID_20519243_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:20e02fac-8ecc-4573-978c-861ffe8b33c7 phenopacket.store:TBX5.PMID_20519243_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:0684328e-7319-417a-81c0-33e827963a40 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:4f6345e7-a54d-4b9d-8c1c-649aa4749c5f phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29755943 uuid:a09453c3-82af-4449-b058-c491b304d5ad phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:e45b0957-95b5-4428-9ca6-16feadcb79d0 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:8840b1a1-7191-44b9-9de1-36acd45fb2da phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:47824f77-48db-4fd4-b8bf-9e9f326b196f phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:4b7ddc28-231e-44f4-a83e-8d7e29fb9667 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:738cff44-01eb-44a6-8a98-e2f1f59a1d60 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:6e007489-13a0-4b7e-811c-55b7b7237e98 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:639b33a9-cdba-4401-a54b-2f45318310b4 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:02dade24-1325-4a76-bb2f-9cdccc8bbc19 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:7c0c9535-df6a-4fe2-a7bf-80106c002392 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:5674183b-0fc1-4510-a6f7-ed611b2d2b25 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29755943 uuid:4fb1a44e-7d6d-4453-92a7-e7f87c638bd0 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:c53367e0-10a5-4cb1-80da-943a228f48a8 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29755943 uuid:23a5415f-b082-4be8-b886-1d5cf0100a94 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d0890667-36e1-406b-b3a6-32113660669b phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:424c1108-261e-4483-a204-6e8ce179df34 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:fc3f776d-aeb5-4b31-a394-02d5699aec0b phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:53b03aa4-0b98-4955-b44e-d4fbd02808ce phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:60d5b75c-5a89-40bb-9c7b-30abeb030a35 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:07cbbd10-85ba-4465-a179-e4abe1933793 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b0b88cf4-3386-4a9d-b06f-e7451faa4350 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f90cf9e9-7585-4cbb-97d0-16791f589898 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e7657fed-5e04-4513-b41f-25dee287d1d6 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c1d33f5e-a0fb-453b-98cb-8f54a45c2b05 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c4970f1e-5571-4438-ad1b-c3f1b72603d3 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b843e6d3-c105-4f9f-9c3f-4d235c7ecf8f phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7cc87276-1f0c-4c68-becc-fe01376ed07f phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:43afb848-06b7-44c2-a1c0-5ea5820d57ea phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:b897ec17-988d-4544-9ebd-d0ecbdb5a737 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e961d8e3-c135-4ce3-ba3a-69e247342851 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:35d729ac-8070-4ecc-b7fc-5a9f59511a16 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:698d3189-7f80-4306-a853-cf05a3cbf626 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:104c533a-b0ad-48d9-954e-652da63bc50a phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ec46bd43-effa-4f94-b70d-5c1d558f7ba9 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:39bccc86-a17e-4812-b798-3040eb3f0f26 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:682ba824-c03f-4c56-81c3-01715726e239 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:814dbc62-6b7a-4963-abcc-594a75511eb2 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fd147405-ee33-418c-9fe0-ea4b27b23eb3 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f6e875fc-70c5-422e-b0f0-2a56baacc33c phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cfd3a04c-9659-4567-8373-d02f78a68265 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:08633d21-b3b3-4c5d-8f94-f324457d6485 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7ee26d7f-a9cc-437a-9be1-6bf9ba0bb1da phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7d507840-d0a2-410f-8118-90b9495ffb3f phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:62be9409-89b7-4e87-9b23-0c90e707fe78 phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:44c4167c-3b26-4ce8-8113-21a01c543a7f phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3846d189-2927-497d-94fc-8fde9531bc7a phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9077e60d-b7a6-484b-b42b-db7e17527ae3 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8304b052-3283-43ca-b7dc-653cfcff7f44 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:dbd83a6d-f92e-4252-ace1-8d3629295f30 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a5e7d3a0-2cac-41b5-abd6-87887ba22fa2 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:179c07ef-8c00-426f-a2b8-dd3e37662494 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:46dadfe3-58f3-487f-9e44-95e837258406 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d727a2e2-ab3b-4885-8997-5cddbeea01a3 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d0e27cae-52a7-4b09-bc4b-c1d02061aab9 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:83f25077-fb96-4eae-8a24-d9163aeb84c4 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7658034d-99e2-47e6-9bfa-aca92c530b8c phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:f9248598-3463-425c-a9a6-3f5ab0ea9d45 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:b8a87e91-7231-4c74-847e-d4750440ac49 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:1407fed0-91fc-484d-89ca-25b4c26a8fb7 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:96173376-2590-4177-bfaa-5c016127603f phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:f610f6ac-c76c-487b-8271-c04890420148 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:0345bf7a-03f8-45d6-a5ac-e590198c8668 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:85d23313-a648-422d-b804-8298331b3990 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:dc87cf27-f8fb-404c-9de4-d78ded199443 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:342aa2ab-0131-4a79-870c-036a7d713a35 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:7ea1e308-ad27-444f-aa8a-509bcf888e69 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:b3a204c0-cebc-4f16-a992-9b5fcf056c9a phenopacket.store:TBX5.PMID_16917909_668_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:5f4352c2-1e4c-4705-99b1-06dec0464997 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a5a9e3bb-76bd-4f6f-8902-8786399f04ee phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f38d94f9-704f-4dcc-9d3f-39beffff6c88 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0010704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:5843afb9-6727-4eae-994a-035f3f58961b phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:be54854d-ed72-4a28-991e-550526c92879 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8cb3bd87-d2ae-42ed-a113-7f510c8019a6 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:667a718a-22f0-4c0f-becc-c1a54fb76409 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d9745d10-8821-4fb0-b43b-1f0899e9a2fb phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:083281e6-3dde-4615-a3c5-ecf30e943c37 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6a21affb-90ac-4a4a-85ec-4235dba6ccd5 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fb779051-4a45-41b2-95ae-6ffb786c7449 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d9aeabba-f892-48b6-b1be-2cdbcd047147 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:df4396ea-63da-4f0c-972b-4c42c7f85bb0 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3b7799c9-37d0-4d0a-aca8-ecf2f48b97a0 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1ad65d5d-49c7-4783-97be-c1585ec4e546 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:823a1711-c53d-4a6e-b67b-0b9857c8d503 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:308d0500-eddf-4dea-8c08-5a21cf630ff6 phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:08a7474c-20c6-4081-bfb8-609890cc3d8a phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:cca35886-bfde-4c83-a3b3-16e7361f715b phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:ee7a9920-905f-41ab-8ffb-db94808444cd phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:f83a938e-d48a-44a1-8c1f-dc7c4180fac5 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:205d8354-2a96-490c-a3bb-255f32818e72 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:1a2c933d-7cfb-4a38-9991-e2d0cd7604f5 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:bf640cc9-1bcf-4acc-afa7-c59bcf6cd5cc phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:8834ee01-76e9-461a-99a8-b32241b1253f phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:d2a3f2ed-83e0-43d1-97d2-fca92c90eab3 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:4794b50a-dac0-427d-81c6-a734dd817247 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:cf2bd4f5-fab1-4a52-ab60-70dba157c426 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:485dfe12-99eb-48c4-a1ce-38249646cd53 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:03d713d4-8acb-4f65-ade0-bf94c1048790 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:d2b86639-f928-4213-8e18-9d76b0b0128a phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:e6cc6177-b3e6-42d4-a2eb-5898780b9b25 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27026770 uuid:3478c422-6b2a-4024-833f-d1c7d799da55 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27026770 uuid:be901d2d-f626-4712-a506-46af9e80034a phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a51948a9-5ab6-4fc3-92fe-948b7ae3bd8a phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:18910640-70b0-4cde-be26-bfb782d34a64 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:2c469612-0228-4ecf-9493-72abe618296b phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:9c14b098-e1cf-4e1f-a778-a62824d4b57a phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f5ac45c7-ea0c-458f-82f1-0cfab023f8f1 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6cb0fddb-7555-4db4-9286-818dddbab529 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:63f176c0-dd04-40c7-a606-3ffbfba30965 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7db96bb9-0f74-4dc3-9b9d-c295e336c08b phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fe2ae4b5-963a-4ab8-9273-6e271d287748 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:88ed78ec-c280-429a-b089-0d19d5938885 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:007c73a3-832d-4120-99d8-d9f9be9351f2 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e9b311f3-9708-4972-abe2-79460de7d177 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3de3a9a6-745e-4950-915e-a131474bd34b phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fa1a4e0e-cc15-4d33-bcb3-c0ea5c6da294 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:de3ce8d9-9bf6-404b-a808-f6e679b2f495 phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:876987f5-6154-4e7b-8992-791c6c5d66b0 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:1f4abad4-1e5e-417d-9d87-760ac274fabb phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:87a5af96-f275-41d4-825e-6c9befb8f3d5 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4a45588b-f26b-42cd-beaa-db2d69bcbc94 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:14d3ac38-40ef-4036-811b-ba62014121e8 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:35501392-9e4c-4b0b-9d56-a8ef7738a328 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:06ccc7c4-05f4-4a09-a0cb-e26816aff4bb phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:cdaf8263-76a6-425a-bedb-e98859c24a16 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e756b27b-d122-471e-9896-9bfd685fbf26 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ed2cd77b-17a5-4f28-a977-2f0117d9b4e5 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c34fdc69-abb0-4c62-b62d-6ba1fccc80b1 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:55cb529a-e796-4058-b497-1ecbe3e62f02 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a68343b2-66bc-483a-a6c7-bb50fd6701ab phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:4a39dcba-c78e-4029-b1d8-b7283b8620c0 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:b60bde08-0328-4fa4-bc30-ad69adf087bb phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:7da1e9c1-9d88-4581-976a-0f5dda862d1d phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:a673ec2d-df0f-448f-a0fa-ede5406e00a2 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:7f84ea64-65e3-48fe-b30f-d858fb8d3a86 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ee39c3d7-5dc2-4f37-8c4a-6214c403e1ef phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f4977454-5554-4d17-aa34-0815f146cef2 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:caadb8be-2ec8-41b3-8743-974b68beadad phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c8bccb01-7e87-4806-a706-a0fb765a5334 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5e5cc3e5-7005-45fb-96e3-3d8ed5f96816 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c5921fd5-968c-4e66-aa80-1d809b9ebbc8 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5a577793-1413-4450-9616-0077fe52ba24 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:856f36d2-9664-4d04-856d-870e575503d4 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b6963e9b-2703-4339-9054-6a844e03e2be phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:cc902fdf-196e-4b1a-891b-8f468a3335a7 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:992745f7-2013-42bf-81a0-9f59e8ba553e phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:271f2eec-d460-403a-8c4f-822f8880b065 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:1d7257bf-517c-41e5-a1ac-43a124898c77 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:4519f515-20f1-4a0d-943a-fee259eb17b2 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0030241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:80abe7db-a82c-481a-91b5-7cc067959b8b phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:34a2a6ed-53ab-4f23-ad42-bfa57fb6df0f phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:bbe1914c-ad84-4cc2-bf34-4fb98f6d9a0f phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:70c79ee5-d012-4132-8e98-a3cd81c2a3a1 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:6773c7ca-6574-485c-86aa-a648e591dea3 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:c650d393-54fe-4740-bb02-22889d845cbb phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:e74c92ba-6944-403b-a015-51aa638803ed phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:5b1a0c1c-aad6-477c-ba1b-702710df8c41 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:f9b649cd-ac08-4ed2-a03f-81c814ad8fa3 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:7c907737-536d-4af3-836a-c2e35d16b6f3 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:ff4e9a33-2c23-4061-822f-aae340fc431e phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:062f4c1c-2a15-4e46-9ff3-45689d6dca05 phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:97a47d89-7255-43c0-a744-98759d57abab phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:41abceba-99c7-440b-b3d4-5b839fa1db3e phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:6ff9beb6-2a4c-4c62-96e3-73864587fbda phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:57e0254c-67d7-4287-a281-c392982d6f87 phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:530384ff-11a8-427a-b3ad-b5cf8558e1a2 phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:baf1a4cc-01c4-456a-8411-ccb98ff2dac0 phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:fa323621-d07b-49c7-896b-5c6e231534e3 phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:76534cbf-1b5e-4954-9427-23b60162987d phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b9a7b586-fed5-47c8-8d48-d19302862e2a phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ee79ee85-e13a-4c96-a083-83a0cb55b13c phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7e50afc5-d12f-4f96-a46e-08dfb438e4a3 phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a8bc98ee-bd39-4ce8-8ad6-d6bef009c34c phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:18448a85-cfd2-4c88-9993-8aba0a037b7a phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:961fc968-2102-45c4-a845-ff799504a70a phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:628486f6-3991-4c4e-a30c-5d717f6e54b0 phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:9023f78c-4799-44d9-b61f-0581a30d3291 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:f6cbbe04-d54f-463b-9a30-05b57f3d3dbf phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:c44d988e-6fae-4b09-b59f-346398ba40b6 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0009577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:035f51ee-e853-4fc8-9716-54811bba2d86 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0004220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:2a8492c5-ac80-472d-8a68-689c0d578708 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:a3d9339e-2e60-4461-8130-2b6316d920fa phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:d114c068-7de0-40a2-9d52-284fe2c85d14 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:2af065f0-60a9-4353-8027-72bde45d5f08 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:564ad3fc-179c-4467-bb9b-a01d2c0579bc phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:645a53f4-81bf-4814-b255-a4fbd17762fe phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:4a4f626c-67b2-4301-8a46-959151a8e0ad phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:0d0ddbbe-8c3d-426e-9709-14740573991e phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:2fc86718-cdc9-433f-b15a-108c28b14719 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:1d26e460-5a46-4991-ba51-0adb1aaf433b phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:8146ce64-b333-4999-b8b6-2136b313d083 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:107e019c-2474-459a-9a09-2c44042946c1 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:a60fe79b-7ed4-48ac-82e9-86ca7efa7d62 phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18351627 uuid:d401b505-9146-4426-ad2f-9520ef7dd3fa phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18351627 uuid:9a425830-be1e-4a2e-bd57-3d4215653f83 phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:3f011190-d60f-4520-8d99-7cd544b1ac5c phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:c99731af-455d-499d-9037-c45594a25d84 phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:c243526b-5723-438a-988b-19878092a61a phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:b013df14-67aa-464d-b00d-dfa4c407b49d phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7a11addf-a8ba-4ea0-b673-8eeb8ffa297c phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:345e4d6c-d84c-4af9-8b64-b4b7eff1280b phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3e10ca0a-73f3-44ac-92d7-e31b0ebe36ee phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9a2660e0-b894-4bff-8ca1-319804b3cba7 phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ec09fbdb-7e71-4736-a7f1-188fff92b7ef phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ec28eea1-27c2-47e3-a045-daba6e4b7106 phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:aa089980-1635-420a-81b9-cdfd4bf19b27 phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d32c3b97-3b76-40f9-a0c4-32f1fc598d8e phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ab5527e0-250a-4e28-9d31-1c4c62336c6c phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:0c99a18f-6969-49ba-b82d-e4e75e37ca51 phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:8d531990-0ce4-4b41-b8c1-7fc03afcf624 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18828908 uuid:8db6033e-07b9-4349-b46a-253528c657d3 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18828908 uuid:43f75894-98d3-4516-89fb-bcba705c1c6c phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18828908 uuid:ce27c70d-7ad0-460c-91f1-199ae6f89313 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18828908 uuid:f7d40da3-d39b-4716-b38e-79bce7e91b85 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18828908 uuid:b3d93f86-56b8-4bf2-86a5-1d2680cfbd0e phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:1925c7c8-de58-419f-a1ac-e1b499baf943 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:ec2fe3ee-fb83-43af-a85c-1ec03ab67d1a phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:3538acd8-68c1-46c9-b8c4-f0ead0021734 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:db2b26f3-9a3c-426d-8307-769698b19927 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:259e9b86-f26d-4fb1-a200-bea9ef6b5a77 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:d4eb42b5-4d04-405a-ac8c-54c2aebea04e phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18828908 uuid:47b739f6-3e90-42ae-9580-3092069ec3ed phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18828908 uuid:efcf36c2-e9f7-459a-be8c-f88146a4d960 phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18828908 uuid:7948ce63-e786-493a-b517-9f6b2c6c8132 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:8c752b97-086c-49e1-9c28-289e184ada1a phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:34f678ed-a792-43fa-89f1-c95481057535 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27026770 uuid:09b263ff-4fba-4a03-8faf-ebe3f5ff78b2 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:78d5053d-de1d-4f8b-a628-ec2927bfe8f2 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:41afd554-3d36-4d12-a697-cda3bc668e21 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:e0b74489-e9b4-4d01-b607-ec7054524486 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:e877d189-b5a6-4d84-8148-679e3f2073ca phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:70dd0b4b-3749-4f85-ac27-9e7faa2682df phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:ea5daf4e-708f-4196-8ec6-2b73dcef8894 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27026770 uuid:f551cff3-5827-46f8-8dce-006da5b812e7 phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27026770 uuid:6924e5b0-cb50-43c4-986c-91c7df498aca phenopacket.store:TBX5.PMID_27026770_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27026770 uuid:16cb64dd-a9b9-48db-9c0c-faa7cc739ee0 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:4042e9ab-b6c8-47ad-a906-6e9726b2a18a phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e45c1629-51c9-4587-9dfa-b180f907774f phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:55294ff9-6bb9-4189-93bd-d5f644ca5b4d phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2069c4fa-ff75-45c9-acee-27ff24bfa666 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bee397ad-5478-4edc-97c7-77475e25360b phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:52c9f0d6-a81b-472e-89ea-2459860e9386 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ac7c330e-9f53-482c-9141-c94e2ef0a5ad phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4e876b98-cde8-4402-a43f-cbe8e289c329 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a6397086-cbb5-4e6d-afb7-9f00985dff0f phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c0f5f411-6fba-4028-9eef-f31ae54183f0 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5d4a9175-3c56-4dc6-9933-70d74a91202f phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:23538406-3f06-413d-b40e-bc1ed3b2bf20 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8cdc7e6d-cb3e-452c-b7c6-98cf125bba56 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:133b494b-96fc-4c0b-874f-b2ba51c57228 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:33fdd129-14e7-4ac9-9ffd-ca3b92f37dda phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a7143917-65c5-4f9c-a2a6-12be13910b35 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:4f88e198-6d5a-424d-85ca-0e76bcbc5012 phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:35188027-4a04-4734-b557-c748d845621f phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:9692aba9-1761-489c-bd61-3a1c349dad3b phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:6b691214-6887-4aad-acc5-3385dd8b82cb phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0004762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:0d04b23f-dbfe-4b4d-82d8-15cb9aa89d0a phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:420a0be0-af4d-4853-a8fe-e18f311e863c phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:b41af05a-93f9-4922-95c7-fb49fcc2dc1d phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:5048adcb-bd10-4111-bc1a-01f3f87dd04b phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:4da13856-229d-4c65-bb73-ddf24194a8bd phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:ab6b7eed-8370-46d2-8745-5e84600101c2 phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:44ee052c-8246-4887-8364-0bea9bcd7c67 phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:7ec20b6f-6b59-4278-9fae-4e944f07ecac phenopacket.store:TBX5.PMID_20519243_4 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:06ba14fa-cf72-4733-8ced-dbbc6ee8bfe3 phenopacket.store:TBX5.PMID_20519243_4 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:10a96ac5-c951-4130-b6b0-3a86dac15174 phenopacket.store:TBX5.PMID_20519243_4 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:ccadf417-95c8-4bf7-86ea-b8101bd967a0 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:b31b57d2-ac22-48f8-a8f1-46931f5e616b phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:2f7a157f-5de5-4a88-9084-4156673c7731 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:f59e1d4a-75c8-457f-ab9d-ea28247f07dd phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:46a1b7e8-6eca-4952-9abe-265301baf9b1 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:282b45c5-717f-4b76-a65b-9a811c71cf1e phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:57308097-63bd-4f35-84d6-e689f18b2601 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b9a5c1dd-3f37-4179-a814-3fdde043f513 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3a8e7f41-02aa-43a1-8e73-31afdce93b00 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3cad88da-cb15-4317-b197-485ee0e6560d phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2dfdf3d0-73a0-405f-ac8f-3f887403145c phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2ea86b73-3e8f-45b1-8bb0-9d2bae2e1091 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:410283c0-019e-4d26-9c64-2d298431c00f phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:4bf9093d-10cc-4912-801f-678692da381c phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:41b55892-0506-445f-bc05-0278211ad191 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:2638522b-e7cc-4490-a66a-e93a8b0d0748 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a3fa8167-a141-46f9-9552-15c6e46de6af phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:92f6e07f-e7a6-4383-8e5f-01320fe7933d phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8432accc-fb36-4388-bd88-458a31be8769 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c4802758-944c-47ec-861d-c9054a5526a6 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0380fc26-30dc-44ea-a636-d5fd8ec44bef phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:984044e0-6aca-4fa3-a6bb-d995cf323ab7 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c16608a3-20c7-4361-a538-5e28970e7cb5 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1b21d6dd-bec4-4268-98b1-4ac995004bd7 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cd5f7223-cebc-4735-9cb3-8024ba565a14 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:074eaf5f-03d8-4482-a860-68cee2c27c48 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ec5aef62-118b-42dd-810f-f3c1d7c85f32 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:28515209-0026-45d9-95e2-20e99213634f phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:6392290e-652e-44d4-9d57-3486ae203595 phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:4574a768-1882-4158-9ac0-de2f5ac61d2c phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:0fbcdf2a-de0c-4429-aa67-074f5a9d293b phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:e250aa1f-1c90-4180-8e66-e1324b5ae35e phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0006097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:58918744-9733-4465-88a8-40f3be3820c4 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0009460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:5c7cddb1-05e5-4033-a997-69ced406b32b phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:6304df93-4d5e-4597-814b-e87650b93adb phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:feae491e-aaa8-434c-a217-940c21ae9f66 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:5e8bf162-9953-414e-bc52-1553fd4c9964 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:dada80fe-4b46-4633-bf5b-e3ccbb8eb78c phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:f8099a86-f7ea-45c9-ab3f-e09e07a37b79 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:a495a739-7774-4000-8713-b90a480fa8e6 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:3de4511c-0992-4271-b767-c38199ea4424 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:2b573871-63e9-4806-8b25-e9d2bdd041c9 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:9427914d-1e3e-4631-b545-6755289a52f7 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:4a912211-5601-41c3-800d-5d5c7622699b phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:73431f68-bafe-4792-9aad-fd4f999812ca phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:85b529d2-cc16-43e8-baf3-423a65c11832 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:04e418b6-1f68-45de-81a0-ff2219ca4ee4 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:5183d0a6-e699-45c4-897f-0810583989ec phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:b771ddc7-fd31-42b9-8f65-11601af06867 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:bc190e98-4b2e-4643-9a83-127c28bd78ad phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ade8179e-934a-4294-9cdc-ad72238a8775 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:832f9e66-9f86-4804-8162-ebd31b5c0b39 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c3d8a132-4d6f-4129-87ac-7e6df03ebb23 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:646203da-cc54-4dd3-8b96-6d8edab43ef9 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ebe09c80-ea7b-4d30-9f9d-2577ce377d85 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:ef7ba402-a3c7-4c5c-bd6a-5dad2a6c9935 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:b47ca38a-c97c-4c05-8ad1-d43412f3bb7e phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:b5985c5c-6407-4012-8b0f-89becd01309d phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:c3b4f20b-4f3a-4694-8999-91e80824dcf8 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25216260 uuid:0165d4b2-2c41-4761-8fee-d5ca77ae9b42 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:a1f1fe98-daec-4548-aa4b-d7c6f596bcba phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:3590c6aa-9e61-4695-869f-f3677ebd5982 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:f54963ff-1c76-43ce-be09-c5fe066e4fb5 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:5240e102-1490-47ba-a06c-75a82f1eed71 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:3f0bb961-1de7-4e45-8480-68ccdccb94cb phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:6a7870d1-8a3a-42bd-82a3-d85a9761703d phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:e0909547-22a1-4f11-91ed-6a7a38aa8336 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:801f54e0-6642-4ec7-99d3-a49ee0802cfd phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:65d42ef3-9bf8-46cc-932c-fdf82f33be3c phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:34767650-93b7-4e1d-bcb4-95316c6bbc35 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25216260 uuid:e12e5f22-241b-4807-b392-72e52406ca17 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:871676b0-127b-4e4e-95d2-c09599239844 phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25216260 uuid:17792562-0e71-4727-86a3-7fd9054be1d6 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:7ca60eba-1d8a-4ba7-a8d1-d313630e4cf8 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:47d22e65-bc8b-4d10-b90f-bb13ed287e8f phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6cfa3375-b4e4-46ae-b6a4-3038d903eea4 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d49ca988-59f9-4306-9acd-0167b8712955 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fa626fa7-b849-456f-8580-3f6cb12914ca phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:45ddd0e2-59a5-4f87-ab22-14eacf0c70b9 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d536f024-a52f-4053-b9f5-141dcf5d8c54 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cc4a794a-938b-4a8e-961d-5b361e409e5d phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:57fe474f-5a6c-4f62-87db-880a5da8242a phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2a1549c4-b188-47dd-a2ce-83b522b62ed1 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e2553205-7f9f-43da-82da-2cf0d08ab9e3 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ef0621de-d502-49db-91d0-e0cb14d2dc52 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:679354c2-e288-433a-8b72-d9136edca6ba phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5f44c800-a436-4302-9e4c-986d65e8635e phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:07a92434-f570-4286-b2a3-2123973b1169 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8aa1d3c8-f6ab-44d2-b231-10b1eb2e5bca phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:a5a87952-5b8a-4afd-99c1-dd36485bc988 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:4922c901-f8f5-493b-b41b-20f0cbb6f028 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:e664a3a1-3ba8-4a6e-ac4b-4087fc67ca35 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:59a756a7-6c73-46d0-81b8-e09c9c68e5da phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b2b9f579-0321-42bc-ad72-9ea39aab0782 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8426a575-cb22-4e01-ad95-0994a1b139b5 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3079d4c6-ec48-42a7-a426-a9e70f809bee phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6df90d23-b239-4fa2-9e30-7d1981e601d7 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:91e5500e-be74-4a59-a584-91580fe72f89 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c7bda787-9190-4dfc-a22d-2088d66add52 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:63108951-ee6a-4286-a7ea-5368a1bd40d5 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:0ff8379a-ea03-4f4e-bdd7-07c14b679b07 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f1bda363-dc78-48d7-9b36-ce6f302f273f phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8c4a8bce-e4da-4c86-961e-62fe04d4dd90 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ceb8dcb2-c19f-4f7e-8e89-8a9d67a5234d phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:04f852d4-9c4b-4a72-8a46-ebbc08aa3789 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:4e01b696-97c5-4ec4-b67c-c3e6f17d67f6 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ec74f47f-26b3-42dc-a5de-4a560ed16bc7 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:44a4195f-2eae-4a03-aa91-879b0b8e04d2 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:a19c5eff-173e-4570-bf24-11a42b062b49 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:08fb9dcd-174d-4e77-81c4-7ebaa4e049ad phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:5172646b-2537-42bb-9abc-ddbac51b668a phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d6d43f4d-7b02-43c8-97f7-d7b9e6c68424 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6301a1be-70b4-4b5c-90a9-a2c76b227db7 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a0f08e6b-a2d1-4ff2-a1a9-acb50da5e849 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:dd4f34be-77d1-414b-bc92-72233efd147c phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5e9d33b0-f6f4-4b67-905c-a4ef68e32370 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3707a148-8dc4-41c7-a530-95e3600df460 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:21300d0b-12c9-4ca1-9de5-05da981dcf07 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c5e96de8-91c6-4ea4-8b8d-eb837ea42743 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:da997772-f2f3-46d6-8d86-e1b0ad718f76 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:3a328793-d775-4060-9928-fa9509dd8d0c phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:6d9398dd-14da-44d5-827d-7a5ad4f9bdb7 phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:77130f66-9710-461b-b4b3-d21198524e3b phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:9cf822cc-7523-4730-8db9-b6759a3fcdab phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:600d8568-fbfd-4eaa-9732-7216ac58c277 phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:90b14462-405b-42a1-939a-ffcd6b93bf2e phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:cd652cca-f198-4c61-8c6f-6a7b6fdfe7cc phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27652283 uuid:649453fb-efe4-4edf-83e1-cde64c4011fb phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27652283 uuid:0c8a0fb5-2e66-4984-b999-bdd404c6b337 phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27652283 uuid:04194a52-a64c-48d8-96ba-614393bec8bb phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27652283 uuid:14ba0f98-cb11-4859-bc60-33b18aa9f555 phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27652283 uuid:7d9c384c-bd06-4483-86c6-4559ffb9c61f phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27652283 uuid:854508ec-1495-498b-9216-07c48cdc5e66 phenopacket.store:TBX5.PMID_27652283_patient biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27652283 uuid:e3c12738-aa1f-4329-8b19-3d50976f380f phenopacket.store:TBX5.PMID_27652283_patient biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27652283 uuid:63c128ea-38b8-4b57-8e65-a2acb32151f9 phenopacket.store:TBX5.PMID_27652283_patient biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27652283 uuid:06321e3e-753e-4f88-9ca7-25e830fbfd80 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:8fcf929a-1ac9-4c4e-b294-2409a4aff033 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:51f637f2-a93a-4633-abfa-6eb196426028 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3ce2c513-9aec-4ece-9dd5-99741b2c914c phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ac496abb-0cc3-41f0-ab6b-0834c5c2141f phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d294e14b-b8bd-4b99-9ad1-165b44a1f193 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:03476f2c-212a-4d2f-9e45-ed46592f1f8d phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e3950842-dd36-40eb-a1f7-e6d4a6f61eef phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bf622c95-3553-4b80-b8bd-b7355ae239c9 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:0612382c-454e-498c-93f8-06b7a409e3c2 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:7a244879-d039-4c6c-a097-f394fb7b2dd1 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:574f7731-741a-48e3-919e-5f9a09a4b9a2 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c5c2700b-383b-4596-9df0-a2e713e40d68 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:03cc58ec-1129-4052-803d-34c3e9f86e63 phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:d70ac5b4-31cb-4abb-b97c-4fd11c8302cd phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:b9ec8184-cd14-48b3-98d4-a5f7cf6cc788 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:b3e846d8-23be-4cd6-b728-aea337b24c85 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:911a1c1e-5a77-485f-9310-ea8a4647891f phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:00b34f49-1f98-41ec-907f-9c84c9013c23 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:da6957ab-2d8c-4de8-b683-664ab512e9d8 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:4d2af578-4317-477a-bb9f-f3aea0376552 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:80bacc9c-8eba-479e-9cac-903b5edc85a6 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:f60dc06f-759b-4738-9689-d1d7f9621a38 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:8e26286d-3b97-44e9-bb3f-2339d8db1d55 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:a0b12112-ce94-4592-a858-70caab9ef832 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:502f039a-72ad-482e-aa0b-ebcf4f4178d9 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:a09dc8ec-1e8c-48e7-a559-8bdcfda8b7a7 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:0ab241a1-da19-4d64-9586-80e878dc3146 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:4221efb6-8b37-4e9b-929d-99246a958778 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:519e926a-fe84-4972-9c47-4b4e839a6355 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:ba373fc1-d53d-4e18-a29a-074130510986 phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26219450 uuid:e055c941-2431-4c74-ade3-b1e3a7df79ee phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26219450 uuid:11f241cd-1b2c-4946-89e7-5e7e8e607785 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:f7e4cb03-b134-4bb4-bd40-c106c2ee1fb5 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d5987075-2b04-4dd1-821f-8807d94c0a60 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:452e4028-e425-4d85-abb9-ef1b7e184a29 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:45da88f0-74eb-40a9-86df-f68ed875f9f7 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f7194e53-4621-4baa-b747-252196a2db31 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8fe1a584-e093-486a-82c6-7408b58cb101 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9423390f-a03e-4248-9516-35f91812054b phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a5f4e1f9-b1e0-4324-9ad1-29f943950919 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:70e514c1-32e2-4f7e-984d-2dc0e7fb22f5 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ed1899fa-6942-4997-af17-ec4f5784cdae phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:489cd954-5dfc-4087-a94b-2f44ca6fb644 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:edeb54a5-691d-4285-ba57-1c5fba67527b phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8d7a72ab-8761-4daa-bfb2-12d433cdabf9 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1d83380b-3eca-4183-9f0d-07af2a5ee447 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:ded3e416-92ec-4985-8d77-7dc1030138a3 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6149091b-9548-4e37-b3bd-6d7d1035604f phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:3540b080-49b8-4cd9-b9ef-d2aaec66da77 phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:24ea530b-d5da-44d0-8590-a28d829fe77f phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:47d8d6ba-94a1-4962-862f-ddfc37f180b7 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:18301349-ff85-45ce-8aec-667d807c62dc phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:63751886-4b46-44df-85e1-c106feb8a994 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f01f41f9-3b89-40b9-8d2e-51010fc1c5f1 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:32e2bdfd-e271-4533-95b4-6a9540774289 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8a88f4f4-e226-4cc4-8fad-f93953492e1e phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e096dfb4-baf3-4798-82fc-3dbf4628b431 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:97136e2b-6318-4a0a-a106-568183ae4f03 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2ca16ba9-0c1b-4c88-8e60-99d0caecea53 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:beea8867-4939-4076-83db-e8fbcebe19b8 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6d8bb1cd-1d97-4456-891c-ee250e500f5e phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ef450441-005c-4f88-8c46-675a7ab79195 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:9aa69c85-a8a1-46be-88bb-2bb4f4f5b26b phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:2283e3c2-0bbc-4481-ab96-1cd415dc984d phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:31373096-a375-4408-a2e0-1fdd51dec2c3 phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f69728ea-c3e6-4962-977f-ed96419620e3 phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:465b874f-b433-420c-8260-210d999043cf phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:449613cc-156a-495d-8b77-ac5dac5bc1bc phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:f03e113b-5574-422c-9a3e-1e011b8c5421 phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3e264a08-b466-416e-b75c-186b285f134c phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e9ee474e-6ba4-49c2-9bc1-68ebfa8ca1b6 phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2d0277e5-1456-4351-b5e4-74e4d6ed8ae9 phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:f3ddf2f8-b99a-481e-9cd2-c76685643c20 phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:ac8fa48a-2213-4fa6-9329-633bb2d4ed09 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:8e9f174a-4340-4d58-bcb3-29412a1f0e4a phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:371585f2-7bb8-471d-bac6-6fad8ad6f50e phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:65736440-a289-439d-aff7-314c2e89eafb phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:d31676b7-512f-4aca-8224-169303b63aef phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:ffa0120b-051c-43d9-9370-83c53bbd0ebc phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:2f26c325-3ce8-4f97-bb2f-69521284cb4e phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30538526 uuid:2de8bfd8-4c56-4cee-b7e5-2b1aab2bf289 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:2ce96577-2bfb-4ecb-b41a-6f0af5a405b9 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:8e8e3a07-6f36-4266-b210-d39d8ae5f276 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:6793022f-168f-4804-993b-6d9393a18243 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:f703df59-bdf3-45ef-9eca-d57df81e46a8 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:08958abd-1afd-4351-8dfc-bed2d1e3f015 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:8a4afe4b-c271-4a1f-9515-8cd4391d7721 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30538526 uuid:224f710f-7490-4486-af4f-165e3bede049 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30538526 uuid:a3dacfa2-a80e-4627-80ea-c7a44168e905 phenopacket.store:TBX5.PMID_30538526_patient biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30538526 uuid:73b70842-64ae-4686-b8e3-b8b7e1fb53d4 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:637485fb-9fc4-40d1-bb98-6c0483be213e phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:c5b9cbb9-a4a6-4456-9ee7-542b6f32f3da phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:98d7d083-6e66-4fd6-aa19-fb0f380886ed phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:03760c7d-6bf9-4208-91c0-7be7867569b6 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d962551f-0663-4514-af2b-fbe4738a8f29 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:373c01b8-a562-4c04-b19e-77a1d29375f1 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:38fe3e76-3021-4675-8aee-c62405bc7b3f phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8421058c-90cc-4abe-9795-0408105bea7b phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b25e1819-2742-4775-bb9e-0553b41eeeb6 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b767f516-3e9a-4276-bd1d-6e63ccaa0417 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:d803c3eb-15a0-4b8a-86b3-abd0b635020c phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c03dcf94-584a-40c6-806d-e4302fb6d56e phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:1cbb2935-c67a-42c5-8da4-5457f81b126b phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:93042966-31a6-4679-91cd-c0af41ed3c28 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:23c90a19-8675-4f39-86b5-6c87630aade7 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:96bc5909-7ea3-4842-a2af-4f9d37ff3d95 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:513e84ba-ef16-4f13-8c58-cfcd9dfe5b52 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:aaf95c30-d6fd-4126-b24d-b480f14a32b8 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d41efa33-4c1d-47f1-96bf-17269971d341 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:d95f6030-6e23-4622-9de1-0640bc9dfcdf phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9117f725-cd42-4d4d-9207-c9b7cf2f4340 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:6b306435-432e-48dc-956c-8e2473f38feb phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:74f77153-b1ad-4b4a-a44d-41565002160a phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9d81b80a-0c9b-4599-8765-5fc2e8db1199 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:b74f6a25-4a12-4e11-ad26-e12a559256c3 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e59d4773-052a-4f71-9b54-637c298996ad phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9307d73a-87f8-47b4-a754-b9395964153a phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:59b32b14-c145-41fe-a304-54d44680ec13 phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:b70a55ab-5be6-41ef-a789-149d1b32e647 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:405516e7-f35f-4ee0-9581-2b500a50af60 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ae5849e8-d4b7-4fd3-9426-b9173c3f97f5 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:288bc205-e950-4243-bc75-0c1422ddf846 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:06c5f152-1c11-4880-a1a2-a121e22dd280 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:001c796f-eb47-4761-bc51-117e0da0055b phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:9a499dd5-28df-433e-b1cb-c19452514eaf phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:2bd4c4a7-c745-4638-a100-4527c327e00f phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:bb1ce9b6-987d-4d96-aff8-f7ffc5c861da phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:99570f04-6f17-47e9-8569-ca6818e859df phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:c9bd3958-d8f4-4d75-9b4b-b3aa793a7e50 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:a74daea7-9872-4ac8-8478-228a255013c2 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:5202015d-48a4-4a61-a7d5-dcbaa30ae542 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:c066a827-3fcc-4df5-a7a1-a3aeee4d38f2 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:e35e48a2-4e79-4e14-a984-f8d69d4369a6 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:c71b2146-2002-4655-86c2-cb8038080afa phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:41f90495-7f74-420c-8f97-cdbe88fed02f phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:63841a19-d00f-434f-b04a-40ebe08ef193 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:b61c06d9-cd8f-4c74-aead-1ded5ebf41f1 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:29e24151-9e08-42b4-95dd-b5d8ac5d43a6 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:1447f867-a60b-4107-b8dc-705077092c63 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:27d24c3d-93aa-46d2-a451-04f2cb96688a phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7c0f0c97-8027-49b3-aef0-9d3d111ad72e phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9908743b-61aa-4204-895d-bd344d72e43f phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b632d5a8-0b72-4561-9d1a-9769f7d50a4f phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:8ddbe1e0-6a68-436f-a68a-115d4a0bdbb5 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:edba9aae-b487-4660-b970-3c29c691c0b5 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:6b125b48-24e7-427b-a59a-94d6e6dc4e3a phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e6c33c5a-379f-47db-9b79-763344841bd1 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:eddb78c3-4506-4222-8b0a-8d55b2397ab2 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1b1c711c-a2b6-44b8-9943-2b0574ed85c6 phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:ca8bf027-693c-4d3b-b19b-a2afcb743edf phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:35cb22d4-3360-4a50-88dd-595d0243356b phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cffc3b67-87c2-4a10-93f0-5771b4e0a787 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2827ebdf-96c0-4541-a19d-507a12a1f762 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:98f61669-269c-445c-9e3f-520e37673e8d phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e1b5a053-36b4-4a76-9bad-9d8c5e41b1bd phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c9eaf201-6c93-43be-80cf-ce25f9c37b6a phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:88750d9b-a535-4436-8452-ef19a8698d48 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:56bf14bd-7f68-465c-9e35-351283a80200 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:efb7f82d-7025-45cb-a8cb-6d17652b8d74 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fc13d3b3-f30f-465b-a09f-35bdef2cad6a phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:07f12199-0fb5-40a1-aaf8-51915815b7ea phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d36b5449-ca92-4fc7-bbef-aeb3bb2d7151 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:11b400ae-fda2-4672-94f5-bb82383cb198 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c1494396-b150-492a-ab0b-c622aef5c62a phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9cde5cc6-c49a-469b-a1a3-76ff5a53347c phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:484f8692-1410-476e-a471-5f2b0cea972c phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:83356553-f2b9-42d5-b274-dd7352298dcc phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:a471c541-e837-41ef-b1d2-c65120eaff06 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:2603e630-1442-4480-a4f5-89b747559ab6 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:78614e63-d4f1-41d7-bd29-7fa594687ed9 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:654ec213-7066-4e3b-aa5f-6792c599fc51 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:26505fc7-fdd5-402e-95b0-7aab259624ef phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0030718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:fd6edbcf-9db9-4815-ad99-a8b3e20a41a6 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0011995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:e1933757-4042-4fbc-a943-ab8ac3301098 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:251db26d-5f3e-4118-aff0-bd002b2fd920 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0009824 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:aae8b529-22b6-4035-aeb0-30ecb0f959e6 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:36ce2db2-fbdc-49f9-8d7f-b3a5f6f8e1c8 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:a16e275b-472d-4da7-b2d2-dd0776a84cd8 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:61988929-07b1-47dc-833a-de6beb14b486 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:956372a1-35c6-4615-9379-6f40a40cc47b phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0010567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18706711 uuid:a31b5f08-2b1a-41ea-9501-d32c48b2e6bc phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:6f2bf4bf-ca14-4b52-92c1-3f426352c727 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:fd6647df-7d1a-438e-8c51-561b72a7e9a3 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:b3ee1c3a-94ac-4900-b9fd-d7220aa103d9 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:97a19df7-6f2b-483a-b2e9-55c6f18a92ec phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:10498ac3-bbb1-4082-b036-d98ed6bc3d23 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:2d7c84bf-cc47-4fac-88e7-974a8d14d9a8 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:0d43c824-3d95-4819-a1f1-c35abd2d6ad6 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:27ad72f5-14f2-4492-bf40-0b6a049fc2cf phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18706711 uuid:25c4c672-e9ab-4a2a-b84a-d6e4f5231ecf phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:2878421c-d5e7-469f-b58f-b227223717a6 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18706711 uuid:b44aa3f0-a4b5-4c29-8c8b-f6031caf2be1 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e7cb1ce5-e825-43d7-922a-e14bf6524a1e phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d3f2d685-c188-4bfc-a887-78fc9e311951 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:302434fc-3291-478a-8720-03ac33c6d341 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:b467bb04-ac71-482d-9daf-26ef1b6ccb18 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d58afc9f-cfa6-42d8-a26f-e79a7d934b1e phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:162a18b7-bec6-43d2-bfb0-0277b3bc9284 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bcf65c5e-5688-4ea0-8cbf-9a299c8a94d1 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1a04c975-b49c-46b0-b367-29b7d25e79d9 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1a4355a2-c9fe-45cc-9f5a-3734823359f6 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cd3e0bb1-bded-479f-9a7a-ec8d0ad7ce69 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:d655e3e6-b550-421a-a20c-89fd2fe6408c phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7f21b937-7f7c-432d-8bfc-ef10dc06bc5b phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3d17c35f-cee9-4a6a-b99e-593bfaf9ed9f phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5abb9794-9301-4389-babb-456d9a6d4606 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:02bf64b4-342b-4f89-854d-b0559616de09 phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:9e7b3834-7689-4df3-b16d-3ba674d1396f phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:e7c762e4-b23a-4625-b4b3-a14df2449be2 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0010487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:20a0b0d4-077a-4c44-9ae5-be550d491be8 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:3061eefd-2322-439e-baba-bed87196f6bd phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0dee9a16-b90f-404b-a107-1bd30333ed5d phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2a6147ef-f3ae-418a-85a8-c217edec500e phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:438ff51a-e7ef-4e9a-b33f-e2a944d81ac1 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9b341cf0-54aa-46a1-9de9-0fe3f62ece48 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:73a5a5a5-0de7-49c7-bf02-f10db7bd67b8 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c4cd34c8-4cd4-4ba7-aeb7-a788c8e48cc8 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:62f9f15e-baa6-419c-8016-2530883af617 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e3ef05d6-1905-46ab-8776-0647360addd3 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:93ac9fea-1d55-4637-9d91-d23782337b54 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:76a664d2-f9ba-4cdb-8108-d73e9f6acee3 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:71db2ad5-9ea2-4d06-963a-d7f4ce68f27b phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:245861ac-668a-4a31-b972-4e23b718b674 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:987af884-bf68-45af-8b5a-b5df1920cf11 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c6d9a482-1666-4cd5-a0ef-c61269c58e98 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:20f19d38-1790-46d2-8f22-01ea9045be66 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:e824388e-45d9-4304-a700-7caf655a9250 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:947a939d-8774-4d23-b1da-1917491c6076 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:d49cf549-212e-4b43-9317-86587d6459ae phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10842287 uuid:058246d1-0ce1-4057-9339-b71a3a226222 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:76e6f183-28d7-4873-b8cc-c522d0937b2a phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:27225d42-a984-4b20-a132-93749cc89800 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:bfd71fe5-b10d-43c0-8337-23235f703e16 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:112788f3-2d65-4cff-b2d4-56756c2fe94a phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:3ddd0c5b-1e70-4226-a9a6-e8b366a29536 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:3d992b10-7fea-43f5-917f-649dfa99e8c9 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:6315446c-aefa-415a-afa3-8a59a863daa0 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:b725bc29-b654-48c1-877d-b54ed7463faf phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10842287 uuid:2f52a781-d6ff-404a-8285-75191cafbffe phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:a08099d9-3dc0-463e-b096-8df17fd1ef87 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10842287 uuid:63ec690e-eb88-46bd-a011-a58b5e04596e phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:5936ed40-0316-4b4f-a5fc-2e6560a1c2a1 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0006394 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:3117c39b-d15a-4d17-bff7-f0c641f75770 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0011927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:52ac8aa5-6e99-42fa-865e-87af33ce0c4c phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:0c2d4623-da06-4f20-9f5f-3a0fe7d8ac08 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:14380920-94b9-49e5-9de8-147f4937c8db phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:7cc4749e-aea9-45f0-b45f-82e3627a7a69 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:9b560a78-05da-4eaa-bfbd-9321afed25aa phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:cfc66382-1dfd-4f6d-91a7-c59862d913b0 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2cda1ce1-b93f-4ff2-bae0-4e0d53b5f066 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:5d4e75cd-2f9a-47b9-82be-d0248c539a2a phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3c13550b-4461-4452-8160-c7c8c8e3ad97 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:9226428e-09b6-4bd1-82c6-84dcf801fe96 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:3a13ff92-6bb1-49ae-aeeb-ad3cd099e2b3 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:2e0565b0-65e9-421e-a5fb-b009fdebc79b phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:14982b1e-c776-4d45-93f9-fb083e87f5fe phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:74654259-c3c1-4afe-93dc-6ac2aeb051b7 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:27731a0c-f1c3-40fc-a985-8895d50c878e phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:aed0de58-7714-4d6d-8347-ef9bd85d036d phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d4fedf21-a8ba-432c-9a68-386bd80ada4f phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:dd91524b-6937-46bb-8038-da4071763838 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:1735c5d6-9600-4086-a4ae-9c58bb941630 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:48db0fc2-bb63-4fa8-9725-5c52ebbdb025 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:61a35d62-9e30-4822-a6f7-4efb8b1da5e2 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e6ef68f6-317d-4d52-b5ec-163738fe8ba3 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:c0ff38f0-cf50-4d1d-996f-07165d377ff2 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7a22a9a5-22ea-48d5-abbf-0764b6f7eb33 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fb257672-d78a-4bfa-9fbc-a8d7dc802751 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:05bc46fc-b7b7-43b4-9a2b-cf62f9081c36 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e81005cc-8f55-4783-9d21-9188dd2e1faa phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b9c3efa4-bc63-4631-b149-fe71fb0c1d14 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:540598c1-538c-47fc-b763-61b1d3beeb2b phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:5d238d54-de73-4a1c-861c-f10d2bdf2035 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:37fdf52b-7675-4d8f-997f-a9cf46f65338 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:12c92cc5-9798-40a9-ad2a-86c72d21212f phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:920f210f-d6c1-49a0-a203-74589a73a092 phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:13d77916-591c-4640-a66f-74f20e5bb8fd phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:7a019730-6959-434c-bc97-6850a0d702ae phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:995e6f31-05cc-4752-99e3-bb8449e7cd51 phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:44ac8913-c493-44ed-aa6e-9757897bf294 phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:83b3d227-9870-49b8-94e9-21c10fe650bc phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:6b5de86f-e2ed-4c42-8f20-a8c5a5945f29 phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:f8282b17-7c3e-4662-89de-0791aff2466f phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:25d00d4c-a658-4d8f-8bf4-13c4998d6936 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:f4ccd2fe-79ef-4824-bd4b-0d2d784f079d phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0002092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:ba65b52c-c0ea-4f7a-a459-cabb7de6d301 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:97e9fd51-8d00-4981-9f4f-ce77a893df23 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:b640c7f0-195a-4e4f-9c51-93018970fa86 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:5ba05175-c09d-46a5-9ac5-f0f218b1a489 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34490705 uuid:b0d31edf-d8f9-489a-8c91-0ad01865d6f6 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:4f5a070d-5e76-4dca-9bef-39cff3f525c3 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:9bd674c0-604a-4ef6-9a11-ab53d77d2d2c phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:f410888f-712d-42c6-9a9e-21e7ce0cc458 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:db433348-c219-4fc7-bbce-8b102405e025 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:41bdfa2b-333d-4ba5-a3f5-d5a1a6204522 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:76124101-f452-4ba7-835f-2d4d69829d14 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:e696f33a-e24a-4c42-a9fe-47ed3e0fe968 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0005792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:44234b5a-d40b-4cdf-bfdd-51f0817daaa7 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0011664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:f507a448-5f90-49f2-a222-3644fe9896d2 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:ab1bdba4-8194-4d70-9bd3-36b280119961 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:e2b83306-5d07-49dd-a8dd-12d5cd1dbe27 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:9f1d0862-8653-4c35-90bb-d8f46199b115 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34490705 uuid:83bc685f-b4a7-47d7-bdcf-c9e7d7a3ef98 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34490705 uuid:fb556c55-c072-453c-a084-7ca8d6afa6a2 phenopacket.store:TBX5.PMID_34490705_III_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34490705 uuid:9c5dba71-e010-4179-9018-1edbe26a30c4 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:ab8be333-4f78-4bdc-8a7d-b7bd47f77877 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16917909 uuid:fcd2875b-c6a4-43b5-8133-46174da9e784 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:eb257e1b-30a8-4d42-8a9f-2bd90980e2cf phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:ffab9c06-54a9-4b2a-b336-0a420efcad14 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6bfde4f3-3ed8-46d7-a311-81f3383cf037 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:36fdfcce-62d6-4a93-b557-8a4eadfe645e phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:d5eecb6f-1f3c-4c95-8095-9cd1927343f1 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:efcd65c2-cd67-4122-b365-0453dd636790 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6da367e3-7b46-4693-800b-549f709bd89b phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:82942f41-d0ab-44b8-b598-79bafeb9a10b phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:1d556c7c-3fd7-4085-a505-aac8ff02f59d phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:6278d266-cccf-4486-b6a0-bb57708ce971 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16917909 uuid:bc402ab3-4c14-4562-a4b1-91c942c868fc phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:427f8d80-8324-4887-bcb1-9e242286e7d8 phenopacket.store:TBX5.PMID_16917909_666_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16917909 uuid:397c7ef6-a025-4c0b-ac95-d162f42719b2 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:cd3ed4cc-0e29-4150-a449-2c205a58fb98 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:8dd38c0f-86c7-43c2-b30e-5e8ab77eb985 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:284df96c-c468-40d9-936b-821b29c0af23 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0005180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:cf971905-3009-4f4c-b7d0-28c5d68f06c5 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0009486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:9b1f76a1-25c7-4462-822b-644c8d2fa70f phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0000185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26219450 uuid:a18c6c9a-587a-4870-acb9-771205fffa56 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:17478ca1-8f31-4bd6-9baa-298af526603a phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:c29af569-7257-44a1-87eb-fabe1f04a701 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:9309a7cb-738e-4457-8216-1cd759660fb7 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:243fbb27-b40d-444c-ab1a-1790c194a4e3 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:6bec260a-d850-4154-8e5d-2e95d7d651b5 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26219450 uuid:9a1f1f72-d16f-400b-8d61-cf14c3117648 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26219450 uuid:619d37bd-750f-4e5f-b862-3b5cfb7b46c9 phenopacket.store:TBX5.PMID_26219450_infant biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26219450 uuid:abccf693-e106-4b3e-8e75-f887756697ec phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:25756522-4c06-400e-a7b8-08c35a4e3d1f phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:4c32d4a9-98eb-4df3-9dd3-c99df60541b4 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:11b19c46-6d19-4840-a943-61f96969bbd7 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:cb38bec4-fb5a-4fa0-a4a0-55ac43923729 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:6f2b9489-181a-46b1-bdd7-3e86ba3eab2d phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:00b6c127-33a6-48f1-a85d-e97743bc0fc8 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0000882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17534187 uuid:12701711-380d-4a8b-989f-c73dab4dd6b6 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:8822aaf6-b9ef-4f67-9ecf-0522da924920 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:91da2645-0dd5-4b21-8a6f-cc7bfde5ecc3 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:2860ec14-3824-4ef8-b71a-3d58552a9f06 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:6f9589f4-ac1b-4786-a43d-6b1f1cb8bbef phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:1d64672d-ac22-4ac8-b206-4cb1068631d8 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:eec9983a-41ae-428a-9226-40b4dd7d86c5 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:a450fc11-6e7f-4d0b-8b6c-7207ea80ec1b phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:c62fdca1-fb5a-4dd3-bc37-4e26fbbb1e13 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17534187 uuid:f55bde1e-4f2d-49bf-8686-bd8b198d5995 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:60aa5d8f-e909-4c65-9609-c7d8a56e34d4 phenopacket.store:TBX5.PMID_17534187_HH24 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17534187 uuid:e38332da-04a5-4247-996e-a74f97d56361 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:7f1c8bf0-318a-4255-8b13-bd9703bac542 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:aa7a6c19-b42d-4fa2-bddd-a7f0214d2b64 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:a06f4427-bb79-4e57-a076-9d07e42dc192 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0010034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18351627 uuid:f369e872-83b9-40b3-9c74-df31a576f94e phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:da1c873e-484c-4300-ba5e-1bf0e75ce19f phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:5212a9cd-be25-4ebb-9b17-745764c4fc46 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:713e7afe-dbb3-4016-b959-c94f17ca51a9 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:906d39e5-5a94-4ae0-b5b4-0044dbe1618a phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:4cd766ff-1153-4e71-8a00-c57fd46fe77e phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:7e500718-aab2-40ef-9089-22e230165fe1 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:b8ae5b14-1453-4146-a6f7-212ec9763497 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:a3d04d9e-a560-4f9a-8635-c45228d07902 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:62f80e80-acbd-4de9-b724-de54866869ae phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18351627 uuid:8cc5f410-67c8-49e5-966f-5f7fc94bc9f7 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18351627 uuid:b3ba1b5e-7d30-4424-b91a-cb0c8bb81367 phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18351627 uuid:a4050ae7-73bc-41d9-ba14-5a1c7e0f0e73 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d9248aae-c9c8-4cf6-85ba-d93fbf3ea431 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:a59c89a0-f710-4c69-8a64-941b923d4342 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0004602 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:efb17948-c33c-47d4-beda-036070046ea6 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0003363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:8492b2ab-e793-44af-8d89-e9993fdd641b phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:a2c95d18-c713-4979-ae34-28925e05c4a8 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:bd53330c-1df4-4703-96e4-2f2d31b9117a phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:26910553-3c39-4123-9190-aed739763699 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:538eef7e-1440-4101-9061-59b64e64bd61 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:e30d9867-46b0-47dd-af79-1c8099db21ef phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f254a496-0091-4952-a0e2-12034e6f111f phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:fdf73c5f-30d2-43fe-9fb3-11f3dec07647 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:4ee686cb-f5c0-4529-99f7-1edda2abe491 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f86a424e-1ea4-487c-9020-1205f482579d phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:2a26bc38-8b86-43fd-9467-9f34c7007c5a phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:22f497c2-b025-4138-b9ee-e3a8ae985d04 phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f18742c6-45b9-420d-8724-334ffd674e9b phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:912c16b7-d170-440d-93ae-fe0f0c2d5bac phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:a635cd8d-abcc-4720-9474-5c124929e7df phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:65b7ceaa-66b5-464d-900f-31c93b8855e4 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:7a6df869-9ffc-46ef-aebd-d4c9af2d9b14 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0001191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:dbb2c836-f883-421d-b192-8b109281738d phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0031546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:10077612 uuid:ff7d3aea-061b-480e-8297-9065f6d94720 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:754b7984-c8ae-49dd-9017-48ccad5c1d62 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:257a6176-451b-4490-8bb4-cf63c3fcdab5 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:3bd1f9e5-014e-4c0e-b9bd-89512874c697 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:8131d3bc-1416-44d1-87fd-6b6c0dfdc040 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:ce93951c-5d7a-40b1-9700-e57ebad25e36 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:50961dc4-4e27-45e9-afbf-7f55ed22c06d phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:e1028b39-aace-4c65-9c26-070550121c9a phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:10077612 uuid:0e7b2141-108d-45cf-882a-2fd210f35379 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:290c87e8-1d3d-4037-85e8-45b4cc54829d phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:10077612 uuid:37ee6fc9-3255-42f4-bb2b-fedb55e475ea phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:6bf5b109-90b0-4c37-89f7-a8e57c8ce37a phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:a64fbde4-a5f1-4915-b345-f461e2ec42bf phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:e99c9a57-5f19-4d9d-8fab-4567256f0e8a phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0030241 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12818525 uuid:161697b9-3bff-4f52-83b4-18b2abe7e7ea phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:378314a2-857c-4292-a58c-eddb3aa7522b phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0011682 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:1e3748a8-9557-4666-8231-a61f299d03bb phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:2877a565-42bc-47e1-838b-4068a095c590 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:72099548-9431-4610-8228-b080148a4b27 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:adebc2d1-1253-4c12-8a9d-5a10363cdf59 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:8ee906ea-320b-4683-a58a-3e7a11760f07 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:74e9f592-4cd5-473b-ab60-becddcc3f942 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:b6810811-1a18-4f74-a0ca-1108a434611f phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:0ee4fea2-78cb-466a-b754-df1469598563 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12818525 uuid:809a0524-05e2-48d4-9bee-a9cfed4a4fb0 phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:b7491b26-c398-4be5-a29c-6aab4ca3547b phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12818525 uuid:5a1ec1db-e264-4a41-81d4-bc93cac62122 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:0c27040b-f24f-4d89-87e0-8a8c472dbcee phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:c8f531a6-765b-4e90-87de-4b3413ed857b phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:12789647 uuid:d55fd5df-454c-4882-baa9-a8ec891a8506 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0001684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:7360dc5a-7042-4a4f-82b6-9a17adb95a46 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:cee6fa4e-064d-4c57-8fb8-a29678d07d46 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:685454f8-c139-4663-8a2a-691fd89519eb phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:b9245fde-dbee-46db-802d-37a3cf57ea9a phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0003974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0436fa7b-d22a-4d7e-968f-88a8618073db phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0002984 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:73e367e5-10e7-4710-86f5-c9f0ca62973e phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0003022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f8999474-60cc-470c-933f-b78b6a6e41f4 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:0898f9e0-9feb-44b6-90b9-9332f8d2c446 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:9f96f2d5-3721-426e-8374-41449b26db78 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:f74ea180-52ab-4c4e-a3db-4df68b7bef92 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:12789647 uuid:811a95dc-1ea8-4da8-a35f-5ad383e3252d phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:9ef564c0-71a5-465c-a1a5-c9beaf5b9f32 phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:12789647 uuid:d4ef5da4-3192-4fe5-81aa-5e521b0b5fd3 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:38a36a04-4526-477b-a5f8-28181cbb59c8 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:419e503c-98d7-4f7a-af96-745c3c7da074 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0001199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20519243 uuid:5bb63a7f-7286-4974-8b5e-bac74e6d4728 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0001674 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:37501a86-599e-43df-a0c6-24e1deb7eb30 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:65ac2a12-10de-42c7-b36b-9ee2a9281fd6 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0009777 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:a8abd170-1463-45e4-a788-7df547ab933b phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:a13b4351-6bf5-4fee-a104-272640c84f7c phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0009813 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:2c942689-ea06-4ba6-b247-da59ba7fc0f3 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0009812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:b20a02ae-21d4-463a-8d28-b783c0a216cd phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0011565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:34b016f9-d907-486a-a05f-0f65c2fa0406 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_phenotype HP:0031297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20519243 uuid:86f272fb-ff45-4754-9479-e694e1de071c phenopacket.store:TBX5.PMID_20519243_2 biolink:has_disease OMIM:142900 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:5949aea9-db13-454d-a513-a71f13127051 phenopacket.store:TBX5.PMID_20519243_2 biolink:has_gene HGNC:11604 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20519243 uuid:1948ad14-2042-4203-afb9-0bd0dab18961 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:4847825d-0276-4078-ba36-5cc433a6c318 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:44e5abb0-e06a-413b-bfc1-6b35dcda5549 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:ec448c36-0e40-4db7-b836-d57f18a8c512 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:a71da2bc-46ad-4c94-8bd0-8b0344467b9a phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:98948594-9af2-4216-a628-003fc69925bb phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:ed7dfa39-440e-42a0-aa78-ee2dbb985161 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:7658021f-1dff-488c-b01d-cbedfdf0b4fb phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15214011 uuid:bac82cc0-4a19-461a-a9b7-82cd0c89ae9a phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:15214011 uuid:a97c13e7-f4b7-4baf-b251-fc1478abb826 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:6000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:15214011 uuid:f058e89f-af3e-4407-b9ee-a87b01b288ee phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:15214011 uuid:903a6896-6f95-4098-b696-486393baf809 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:15214011 uuid:6fc603d0-83d9-427e-bd99-b8e934146527 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_disease OMIM:154500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15214011 uuid:a483d9ec-7fd2-4364-96f9-9453b75bb94b phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:has_gene HGNC:11654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15214011 uuid:f767b762-f59d-4e7f-93f7-ff93f669a0ec phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:3ebc75fa-d4c2-4627-ad7d-cb8e539fabf7 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:54cd2375-9fe2-4ba6-86c2-4dab179c5af3 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:c3963afd-ca4f-408f-8af3-e17dec5358cc phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:989e0a63-8775-4697-991a-4fc12a32c0ee phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:c9874535-a9cc-4b29-8864-24caf0d03767 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:6459d1c0-07e6-4ab6-865c-eed040f1746c phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:2d16e9d0-c8fc-4b8b-b117-ec6be62e153b phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:8a58b40b-69bb-43c5-b7c1-be493cf3f979 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0009554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:0da8341e-baee-467a-81d7-9ad442e05dd2 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:0ce5dd7e-e5e2-4bfc-81b5-36df6af1c9ce phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:08bc7fab-56aa-41ae-a575-6322cabefffc phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:5c40816d-2b5b-4f22-ba92-c056582f0b9e phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:6000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:e09c7a2e-3043-445b-a670-defdbc33051e phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:9d8639fc-e391-4628-ba91-7df79fd3d270 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:0f6e7035-0bed-455a-b0d9-fbb9f8f1ae0d phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_disease OMIM:154500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24108658 uuid:fc40219e-90c3-4786-98af-15377f602049 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:has_gene HGNC:11654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24108658 uuid:25902fd0-04ba-4528-af9b-8b5866774538 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:d15edd0a-8656-4689-b85d-9aa01a0d1009 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:ada82ed6-1594-4396-851a-850850463314 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:cccde15d-5357-4b9b-8058-bab3ce8a55ef phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:19bebf48-e155-498c-99e0-26c1f180ced5 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:8c80543d-b44d-434b-9dc8-3c7e2251805a phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:0cd104f0-6109-46bb-a85e-60ffd4a5ccd5 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:033cbdb2-d48f-4336-8c0f-e24ec564c064 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:d2007576-4334-4857-85d7-138ab77763b8 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:7dbb1fc1-5dc4-40f4-a7d4-33861125acbb phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:0ff61b45-f196-4e90-a3f6-96ef043c4d1a phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:15c8b976-acbc-4578-8e3e-372e5d45baaf phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:6000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:88254420-ef88-443c-84ea-6011f91bbbc7 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:b13bd267-fa18-45d4-9035-775c30b3fb71 phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:0699ecbf-db3d-4f5d-8dc6-be668cefa57c phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_phenotype HP:0009554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:bf245cdb-6dcb-4c9a-8962-5168cd7fa74d phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_disease OMIM:154500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24108658 uuid:808b32d5-b4ac-464e-8477-cfdd5f059ebe phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:has_gene HGNC:11654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24108658 uuid:505f33f8-eec1-4a64-b573-6ba1ae827699 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:441928e4-be00-4576-a8cd-746e5e94a38c phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:632144a6-0253-44d1-b6fb-cb3a7e40a806 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000652 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:4d07e357-bb45-4ee2-8ab1-16cc460cc2a7 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:54bea938-9f02-4876-b37e-c032c30a0b00 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:93e49893-5c2c-4342-9213-162134ca2c95 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:501c077b-11a6-4ced-86be-9c9efdba5c72 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:9669696f-4628-48ed-ad4d-7c7c4f490580 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:89025c9b-a817-4d5d-a53e-a035a2a46b19 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000413 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:26d51fc3-b135-4701-9ca9-3aa9717be972 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0009554 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24108658 uuid:a06b509e-21ea-4499-9867-94aebf678651 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000453 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:99bcdc4d-9ffb-499a-96ba-b848cc4c407c phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0004440 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:a0bed5d4-6c9e-4ff4-a9c2-b7ad5fe6c613 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:6000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:04eab5ea-f1f3-42b8-a3a3-b426d1a9e962 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0004443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:2f6d3b87-eb46-42be-aa75-a65641b3b00c phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24108658 uuid:7cf16027-fe2c-430e-a593-acdcd58e6ff2 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_disease OMIM:154500 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24108658 uuid:b056d7be-97a0-4da8-a511-c581ea807233 phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:has_gene HGNC:11654 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24108658 uuid:e77c8719-1d0d-445d-8a74-50309c91f4c0 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:27861123 uuid:2d47b37b-bd67-4e5d-9342-b7c26ce675f8 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:27861123 uuid:ee1fa4c5-3da9-4858-926d-dd49d682781a phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0004758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:27861123 uuid:95493fb0-918f-4fcd-9b2c-ab4cc9f0a5e4 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:27861123 uuid:8c68b5c4-d79a-4827-b765-f339e2849923 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:27861123 uuid:15fc7a67-b097-4c09-bef7-6b42262045f1 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:ed787b43-5802-4ebd-b537-8b5ebb2217a4 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:c383300a-0576-4643-b580-59462964b265 phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:b870c395-d40c-4ab4-b005-d895a25e9abd phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_disease OMIM:614021 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:27861123 uuid:00ce8237-f591-4fe5-8639-4ed1265409cc phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:has_gene HGNC:27365 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27861123 uuid:90e05c40-969c-4f64-91fb-4fd01ef9b60c phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27861123 uuid:47c59678-a761-4b95-8af9-8d92e10a5a42 phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27861123 uuid:fa684d67-888b-4705-9901-3e602143ffca phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27861123 uuid:03669fbc-f4f5-4d94-b5c8-517597c16f65 phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:91c92fa8-46e9-4119-811d-8b99b31aafe7 phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_phenotype HP:0001699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:c0d9554d-731f-47af-9954-2da891b77232 phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_disease OMIM:614021 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:27861123 uuid:e2c0ad07-0fc0-4c11-a3fe-6c704b6ea1c3 phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:has_gene HGNC:27365 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27861123 uuid:f642c60c-4e8b-459b-88a1-81dba0a9b779 phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001279 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27861123 uuid:3d691d2d-626e-4c9a-a7fd-1f3b660f4e5c phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001657 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27861123 uuid:f8942d1d-2539-4aae-bf25-fa849ad651c1 phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0004758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:27861123 uuid:585ce5eb-f625-453e-8685-56f397272eec phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:27861123 uuid:d5e169fa-ed41-4119-a603-c4bfe25a08e5 phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27861123 uuid:55472872-83ee-47f1-a9d3-9cadf2a58a6b phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27861123 uuid:ba7bf18b-8640-42ad-bb27-d3ebccfd8cd0 phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:687ab72f-fc08-48c3-bcf0-1e6370602766 phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_phenotype HP:0001664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27861123 uuid:5b3e4587-6479-4fb6-a79e-0049370b106c phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_disease OMIM:614021 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:27861123 uuid:ae7dc704-e10a-4c9a-9a7d-b559f9abe772 phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:has_gene HGNC:27365 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27861123 uuid:38071bef-4592-4e56-a99d-9c72ec7b08c9 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:54cd64e2-2218-4427-8da3-70ef5f5a1420 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:ce6ac76d-6f6c-48f9-9c0f-7475cfb3b0c8 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0012847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:0e485bfa-3951-47c9-b87a-4ed16d8e0c1a phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:58e47ef1-f7fc-49a6-8f3d-6ae274f26682 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:83142670-f994-4d06-bc3d-31fd9788355e phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:eb3ad263-5570-4a16-8f1c-6faf463ad624 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:63e0d259-7269-4bb6-866e-9d04c59d74be phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:ab35d77b-5630-43ed-b2f4-82b4f2fee131 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:5f21b190-5f9c-4a79-ae56-6b253de1f738 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:46b30383-99f6-4aa3-9fe8-46b80b9a8232 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:c749a202-6921-41be-b204-c9894381becf phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:33042ce3-4970-48ba-a458-dc0955599491 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:af5a0949-ace9-45c4-9a84-d5df2136e443 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:73b5bf27-f8a5-4b5b-9611-68896c0f52b4 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:da45e51c-bc5d-4722-ae1e-0cb9be5aa1c1 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:972fd3a3-ae9d-4271-b3fc-b25bbf77e745 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:fd055df5-1b75-43c2-9022-33a9eb883f02 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:f943fcae-deeb-4e9c-bf37-469b89f04ec8 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:8f10f047-e541-4378-855a-00b309e2bb20 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:4f51af33-a60e-4fed-a803-3ce29b5440b3 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:70f986f0-4748-4a67-9c8b-76233d93b4a9 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:9a1a2e79-7c3d-4ce1-b382-22bc828e8de4 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:51164070-606a-4864-ba36-994101d2c039 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:23fcd5cc-2e0d-4232-a4aa-98f2852edd18 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:30bacc72-6f3e-4ec0-a93f-06cf6b0a69c6 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:ebc17ef2-8d57-4bba-8bab-3e94d126d395 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:060de76a-69f5-4fba-bbb5-4a18e1a5bcf8 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:4b2949bb-da00-4c94-b4b9-677044028098 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P28D infores:phenopacket-store PMID:36823193 uuid:86902c3f-7625-4171-ab5e-1d9970519623 phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:5736fe3f-5631-47ad-a37f-e2a97201c771 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:bd5a08a1-e836-4bdb-b4cb-ad0ecedcd42b phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:582a9566-0fc5-48d4-8eba-1aeed6cdafc6 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0012707 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:598cb2db-544d-48f7-a7d7-8847fef6e340 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:d9064741-ba8d-40fd-8e2c-dec6a8f9724d phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:90e8c16d-0ae1-4b05-bea3-fcdf07b5aea6 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:95f13a69-4071-4932-8e96-5f6cb8395136 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:3f9fbe33-8329-49a7-969e-09e0e55e9960 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:54106b3a-5321-4e19-abb7-2234d2cf55bf phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:28f06537-bf36-4868-a744-df32d24f5f4f phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:fc00d746-9301-4a55-a471-e115318a621e phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:aaa70c2b-7b06-4966-962d-3320619de7b4 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:0c8774b9-88d8-43bd-95df-2bc0042fa1d9 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:b99c0c92-c276-47d4-b42c-e328764c25db phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:1dd44dd7-3a59-4256-8be9-21d8f6bba6f3 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:7e990744-5485-4467-ae1c-62786df08632 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:c95afe2a-82f9-4c34-89f8-47408d2f09cb phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:240c3279-209c-46e5-90bb-c387604d2fd2 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:36823193 uuid:c6776a3b-8eb3-4d9d-9256-6f9d50eaad91 phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:c8d3ab8a-4b16-4cbf-9a11-d6cd370e4fc4 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:36823193 uuid:e6d09e55-ab29-429d-afd0-dd046e970f7e phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:393aecf4-f282-406f-98c5-601de916845d phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:b1a9052e-496c-46f2-9bdd-43b9a5b6aab0 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:f7fdb288-aa11-4973-bb38-69339ae7881b phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:b3beffe4-0cd1-4b8c-b535-2546994d6417 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:d979cb10-bcdb-4f40-b057-20723fe38630 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:7c4dbb8e-e1ca-4345-b79c-6dbc0c1d7840 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:68fb8a05-3e1f-40be-b870-88baa5d7aa49 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:8943b8a4-58ee-45eb-9149-e2ab28a54704 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:9a571599-b215-475f-a7d9-1daf393dbd28 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:352f5997-7048-4caa-986f-afd09023fe2e phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:04abb802-4a25-44b0-b8bf-434f60ff662f phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:903fcfec-7d2c-4622-90d2-64f09b9e43b6 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0012847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:2e4ecac0-9def-49f9-bdfb-c88af9bea1c2 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:129864f7-2877-4201-8c84-6b49106d01cc phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:7eb97224-95ca-48b9-8f22-d9f534e1b9d8 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:93aa7da2-ad72-408f-814c-455a4ec6799d phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:ac58b904-cf0e-48f2-8486-309785f708f0 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:8f7be375-7d6f-48a1-bd0c-807dac70a7c2 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:e263c8a2-0127-408b-88d5-ef6f68c40cbf phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:f80fa9ac-8461-43bd-8612-a1e44c0c4e90 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:40895dd4-c61b-4c49-a230-fd650d14bfa2 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:992bda5d-4ad4-47a1-9b10-bb65204e37cd phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:405df674-8ba1-4bd7-9749-6cfcf5390c02 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:69ee2b5f-48ca-444a-9589-40090b925140 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:87a6fcf9-fe77-4d53-a5f1-8fb9b8f56bd2 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:9c3af781-7bdf-4fab-a69b-3b12a82bc116 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:1d68e535-f289-4acf-a1ba-a3f351f42170 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:1f635418-54ab-4ce2-a268-bd82b360fea3 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:effb447f-6e81-47b3-9618-73ee7021bf13 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:3a7999e4-5495-42a2-998e-dacecce3041c phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:36823193 uuid:2e35ed82-ae01-4fa2-a221-736c393e3bf0 phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:aa2bff09-83f0-4913-beae-f9b1528b03db phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:36823193 uuid:98213717-6366-4ea0-83be-f71c11641116 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:bb3aae3c-aefd-4dbc-9f0b-ca650e0a2ba7 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:6ba00731-fe40-4f55-a5da-6b38865a4b64 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:1eeec06e-e3a2-4f64-9b4a-773d22380a55 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:15d043fd-dc17-45a1-9384-881f4ab99622 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:e1dea449-fcb3-4a94-9949-4d993904ea6c phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:c1baf252-b442-4816-b51b-f70bb8801001 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:6df2a955-f9c3-4334-800e-a64b99961f71 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:5c14bad4-065d-4d98-92f8-f56d3fe2718d phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:6b7c2a3f-b027-4741-8759-4f85eaff8518 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:5a5aa28e-2fc2-49b6-8a19-25147a3e9941 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:a7e0e169-4e6b-4419-aaf3-1dad97e98042 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:6b45df82-079b-422f-b3e2-1be70689b333 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:78516c0e-57c4-40e4-a4a2-22b72c4afdc0 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:404f008f-616e-460f-8e11-055ae03928a9 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0012847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:3eee7587-6d79-4d21-9b69-baf8da90538d phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:7028d0b2-5d02-4a8b-b4cd-750304eaded7 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:e43a431c-970a-473d-a1bd-9c3fef9dc691 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:594ec02e-e9c8-44d8-9d33-fb1020c9cf7a phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:6e5919d3-c358-4394-8714-17b2b23bf2a7 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:941d4f18-825f-4041-b3aa-d88f86a700f1 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:0b024389-571e-4edb-a1ce-b25b80886ac6 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:eee2a93e-50d0-404a-a550-f4972dd8a46f phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:325ad558-e7e0-4812-bc99-3cb8e9c3669e phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:f590cb3f-51d1-43f5-90c0-5e94e0f48339 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:96dbf9ce-d1d9-4b3f-ad6c-28e049f3a9ae phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:6091a633-ea0c-4ef8-b0de-e111329aa0e4 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:82c15efa-832f-40e7-b784-570354124ca0 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:1ef9d8d3-a037-4d4f-a963-08eef6ab9d50 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:73d546c5-64e0-4da9-9f1a-b723351d1604 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:b1592b4c-4c33-4723-a737-677d0b5853ff phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36823193 uuid:2ca35496-c7ed-430a-b329-86df77f096a9 phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:3e19de3c-fa07-4eb2-9ede-c15eee06f244 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:b553b452-770b-43b5-b243-d7f85a7a3919 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:ecfa6519-c503-497a-8d68-a63abf303af9 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:aff88349-5c25-4d70-8a36-3966f4ff9f85 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:c7192f4a-aade-4eac-a0a4-e4b6af4639bc phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:8155aa61-3603-49d0-b470-aee2e453e580 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:0238af7d-0436-4ae4-b71a-8e26cee306e8 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:dac0f331-490b-4916-9976-a282ed22b819 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:ace36eeb-b287-4250-a429-1a720b6f0565 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:02e97a33-56b6-4b81-98ec-b8409a6c29f5 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:f671fc17-5fa0-4f7f-a958-43bfe3b7d256 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:8c9a7d86-0ae4-4af7-82b6-4fe7a8d309fc phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:2111724a-af84-40d9-b8c6-bbc2c170b761 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:5d3bfacd-eaa1-4c76-b0a5-552c862c9a17 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:a35b6186-6f25-495b-9042-d399d8fa8bff phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0012847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:78ffd468-c09b-4b66-b303-68a6ffd55e85 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:f7f1bb23-045d-4710-838e-4ea909e56668 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:e0eb7423-c99b-41c4-ba1a-4ddeee20637f phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:bd8cdbb7-325c-4494-a4dc-0565aa3a3e95 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:33d14df2-ce8a-4940-8e27-520a8e257ab2 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:1ddb73a1-694c-4318-9618-2b042de898ca phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:5267d3f4-9a5c-4bff-9fa2-7493ce912d80 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:be892a01-b0a7-492b-b432-801dbf04f104 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:fb23749f-1ce2-4fc6-be74-b40f8048996a phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:5da8e71e-10f9-45c0-baa4-cdcb5410e692 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:815f1260-a448-4ce6-8327-6f89ab26416d phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:2d43eaea-4b66-4be4-bc6c-ef9a8d7bab5c phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:156706d1-e1ac-43c6-b4cc-f55463a0008e phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:f6257e3e-b6ee-4eef-acd6-c28a44f01aa4 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:c6062099-9e46-4934-b7f8-5f307f5f26d7 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36823193 uuid:f175e416-5ed5-4116-809a-ea8685456367 phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:e45f5e9a-737c-40a9-9df9-41c42e5b1b5a phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:985013c3-576d-47ae-85ae-8c9ed71ad1c9 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:c07cace0-b920-41ab-a924-796819b394a2 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:a9dcbe6a-cf64-4ef9-911d-e8e4549473aa phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:62661035-9005-40cf-8a31-e5c9b7132715 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:1ecdd32c-f4b3-4c19-a9d5-a3620970215e phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:93604ac9-947b-4a59-88fc-c8893e414e33 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:b48807a5-0c70-4595-a8c1-90a04efd5707 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:4b7d1a38-a2c9-497c-978d-d94588d34347 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:8432517f-401c-47c8-943b-cae5b658e510 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:86c6fae0-2191-4d5b-91d2-42ff5e019553 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:3da9e86d-0dbc-4e8d-b3c9-ad96a9159a49 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:a491873a-66e8-401f-9de6-7d17fb8acc06 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:91de9842-12f3-48b0-aaf7-44813e635348 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:dea5f32b-21bf-4017-a27d-26a8bd9750cc phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:41270f94-885c-40d2-a578-44b2fedbfda9 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:c4208d98-88a4-4697-9647-1d8de25eb3ca phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0012847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:61cebc3f-1b56-4cde-926e-2ee9f2dc04d2 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:175ed32b-5de5-479e-b35e-3d6c89337f0d phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:9e653429-c5b7-44ae-a4e8-f7981fde2179 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:dd2024f4-0788-4788-b1f9-a6bb23a19ef4 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:d5fa9af0-7401-43a0-bc2e-6d0b1c4c2a7d phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:dee0bf71-2e96-45ce-ac93-52ba0e159e0d phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:29beb0a1-fb21-4f02-8895-1cdf2d402721 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:9e7d354d-24eb-4e99-88b6-009d5096ea69 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:8b537bd8-ab17-4fb0-9c9a-8ab5fd2d54c9 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0003403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:0a8d5058-017d-4390-9bee-7fbc5ff72af9 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:10989f62-66a3-45b7-b46f-6f5c49bf5874 phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:f09a9081-b6a3-41fc-8773-c7d4ff10e89d phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:63486b3a-e75f-4193-a25b-1d4807eb0bed phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36823193 uuid:519a5c16-805c-4139-b2e8-7092237608bb phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:7ec85e3b-c37a-4d8d-ba64-20a36d93c47c phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:268af0a7-a7e7-4358-8236-d6c04ce99280 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0010763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:990371be-e879-4ebd-9934-2b04a431371c phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:534f1d78-fb9f-496b-8a8e-e3d4bfb02a79 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:0c69ace6-b245-42ee-9898-b2fcb74e81b8 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36823193 uuid:c0b23b85-c2c4-4f3a-83df-cee308b25b41 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:acc498a8-4e03-4712-836b-daa66ee0917b phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:fccb292e-e1bd-4282-8816-fc2e08f844e0 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:2e0a51c8-66e4-4cec-86f3-03dfedb303e4 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:38a1b530-9d6d-4e0a-8c93-9218ce1b23c5 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:89e2c31a-9bd0-4408-a912-f3baba070c8c phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0012847 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:cb9d1a54-1f5b-4a19-a5ed-d5c2052cd36d phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0002267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:2dd4c1f4-6e61-4543-b83a-1cc6516ac3ca phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:38087675-39e9-418c-b61c-c80a94bb51fd phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:ff90d58f-cbbd-4449-bd24-c8eb373054c1 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:3b732d92-19da-438d-94d8-7e336e6150e9 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:5db87a2a-b1de-4565-80ff-55f3a79bbef1 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:b49ea4a7-18f5-4a1d-b288-e879b50cb320 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:0ab064b5-183d-44e8-8262-75c57f9e9fc0 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:3749244f-91bd-4981-b42e-f1fa98b476d6 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0001324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:19aaa6be-a6d2-4f6b-a2cc-025dab20e228 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0012389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:6d3bcba3-71b4-4b19-8514-a62a4af93648 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:1ae0b32f-889f-46c3-8289-f6b94946d505 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:3feb6c21-f597-4f82-87e3-ec6d397332a2 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:88adb2b2-f7c9-49c2-8cab-16f41d8df4b8 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0004887 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:0bf5f418-b5cc-4c68-b086-6a41d10fbb05 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:b74fb00c-4ecf-4062-a560-2b7fbd71a03c phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36823193 uuid:83a2d427-26e6-4df5-8c48-2142b94819d0 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_disease OMIM:620451 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:36823193 uuid:7623a89f-b272-4f12-8e5c-b75e1bf61bc7 phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:has_gene HGNC:26223 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36823193 uuid:9a8d23de-dfdd-47ac-a9fe-cae204b82a4b phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:686784bf-c15a-4544-8d81-9a75d412d675 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:b12fd42d-c9b2-42b6-adaa-a18bbab9f971 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0009794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:3839e806-8930-4d39-8edc-2db2f3b67bdc phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:0ca58c61-4e12-49d0-9d66-a9c01f686a6e phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:e8c98ecf-eabe-4324-ab40-489dcc974ac5 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:0981a962-5be4-4642-a35f-1b66dd7cac46 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:0703de9b-23e7-4118-b96b-5f3471103f3a phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:a2404744-f510-4472-812a-b57fe4257af6 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:08c24294-da63-40c9-aaae-1f6b23f63bbe phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:8b8ed1c5-1488-4658-ad65-7001267b067e phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:4f8e6991-1eed-4d4b-9ece-1b4d2fef20f4 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:1e6edadf-ef1d-4baa-b99e-5704b238f070 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:d293b4da-fb94-41e4-af28-0921af1463e7 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:527fafea-243f-4e62-b9e2-62d3b87575a9 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:2dce55df-2923-4e82-80d4-71a1445c63c4 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:9f8b92fa-b14d-4d1f-a902-7d533d87303a phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:f45a09b3-99ec-4f02-82a2-caa7eef90b16 phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:f7f9e41a-91e8-4159-a500-99b34c74ca2f phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:46418564-3cea-4f53-9e56-ad1ed6f4f7b0 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0009794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:df0a48aa-35e3-4763-96b7-6c19861dc14c phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:27d2b064-1234-4cec-bf49-b78c0486d6fb phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:9197bf83-0842-4741-8bdf-dc284f656138 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:d73268f7-e6d4-471c-8a63-b0a1a885a95d phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:a9b889de-7096-4bbe-b8b0-37372245f23f phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:b80b6ed4-4904-4691-b0d8-cde3fb144976 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:9996b49e-f927-466f-9eba-45e039d3fe62 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:5e0b0241-ac09-4964-a8d3-637e86ab7849 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:14ee6120-f8de-411a-8cd2-fdd270b686bc phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:1d05be30-ade5-4591-965c-229f3185d76a phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:2552df7c-fb96-46e5-ac5e-269d0e336fcf phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:cef7b9d5-15b9-440a-81af-a29b4f632da5 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:e1be6feb-bda0-4741-b230-a991ba5bedf9 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:68d4af77-9f09-4fd0-880c-badde40b3342 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:c77e66a6-2ca1-41f0-a163-47eab3189219 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:58427d3a-2cc3-4e67-bad9-2d3764d880e8 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:17e5fa81-10c1-43b7-917e-5112dd2864f9 phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:184594d3-10e6-487c-8761-1360abaf55cc phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:eeca3446-ad71-4a2f-88a9-410bd89fd7f9 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0009794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:2f26b0f2-c2b6-4389-a62c-85cbd57cbb8f phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:c0b85a4c-80f9-482e-ae02-2bfda3419b3d phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:f696b55e-803b-4a80-97eb-bef26f340edb phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:36ae411d-6728-4cb0-8142-f303e0b305c0 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:7d55aad6-97d5-449a-a81d-d2453edc5da7 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:e9459015-231b-4d1e-b28a-920b3ee3b266 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:59b0f386-3a0e-41a8-b0a8-c29e4f628392 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:4887f085-22a3-4e2b-ae2a-510a2b4e978e phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:c9e193d6-afef-470d-ad3e-c4b48f2e5d8a phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:6803ac72-e80c-4c81-862b-4b1bd18d42f7 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:485b709e-f601-4e2b-9da7-f1d1187f05c0 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:78669bde-dfad-44fe-bc00-485d71ea4eb1 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:2d2b1f10-9505-4ae7-9dac-e94ee3da0070 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:24df5926-aefe-44c5-a267-bd88f5051bef phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:2d88f092-841c-424e-baa9-ebe6ff5c9a3e phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:db9ef67a-1107-4b71-8314-7df4b4005602 phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:fa6ed4c4-cb8f-4015-86a9-35389f0a579d phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:1e93a203-2249-4674-a09f-a3904e0d388f phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:1a1702d7-3995-4b12-b0d7-e7625681b72f phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:6e1ee764-f4d6-4d3d-a0d1-060ff7e0e722 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:9f1cab6a-7626-46fe-9b53-e8afad153ea9 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0009794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:651b7f86-3968-49b0-b2a8-62c94192f749 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:cca9f5a8-d197-42f2-9190-56d6726c6e89 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:6e220d21-629b-47d4-b750-7e20c12efdad phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:ae3923c9-f9ea-4931-9165-c35ce008debb phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:5372d181-4937-4ed6-a6bb-571679d765bc phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:31e41502-78f2-41f2-a8e1-14cb6d640a87 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:c56549bb-c3ac-4b32-8106-6209cc1ba3ad phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:d8f038f1-2aa7-4df6-8dc1-64524aa640e6 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:1d12fb2c-d93c-4dd7-bba3-d11c82f6a742 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:05bc6f7e-e3e4-418f-b39c-62b1ad695ccc phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:ecbad3ab-e14c-4829-b32a-872b174a88c0 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:1fe3ae34-5fd0-421e-9e55-fee4fd90449b phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:42957f27-0ab7-408c-b51a-3487903ac8a6 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:bad654b1-5a64-42a6-9661-287cb9bfeab2 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:5f58025b-a5a8-4ed3-9a04-c90a0413a81d phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:3d024ee5-e851-42f6-a8fd-2ed989194750 phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:3589269c-8221-4065-843b-78a12d369d6f phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:8d324f37-1bee-4aad-b198-7dcaba290113 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:29066605-99ea-40f2-823f-d170af244e3c phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:ea4f78ee-d9fd-4512-a087-d0f6e8aef219 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:52915024-e234-41e4-b153-70fa202fc349 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:e369078c-3216-48f9-b869-a12419038a03 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:750d2e38-cc73-4ea8-81ef-a7d1f776f0ba phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0034185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:7308c56a-1e7f-4878-aa92-2771b7cfa06b phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0032287 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:7e660020-84e0-4013-93b4-668d8252ef55 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20461149 uuid:6da480e4-cd88-4eee-bf5b-1d8c22683a1a phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20461149 uuid:9ad3c395-6aa0-4846-ade6-ede71b2fe1a9 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20461149 uuid:0392fcf9-3115-4d61-bad8-844cbcd84e17 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20461149 uuid:af070d16-bc1a-46f2-a2ef-f9f954f9ba48 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20461149 uuid:2d896435-899c-4eca-a20c-d3e1e603b448 phenopacket.store:TFAP2A.PMID_20461149_index biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20461149 uuid:9dbdf6e3-83de-4848-b1a4-7f17b54708e2 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:d08234fa-bd7f-4869-910a-dc207166d977 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0009794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:58353aec-6f99-4eaf-bca1-120e18b53846 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:2d24ed62-b53b-443a-864f-3945dc0185a4 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:521da3a4-e03b-42a4-ac1a-995062c305ed phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:227cc238-638d-4b22-9647-b5881d41afef phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:02567ce1-4a67-4e0e-a197-e33f1669715f phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:40877eaa-89b4-46d4-ae59-b31a48004aba phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:6745329b-0b00-448a-9b5a-fbddabc75854 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:c6411c40-f52b-46bb-9374-06e91cae7471 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:70dfd7fa-40e9-4bcd-8439-11aa447ea016 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:70e93d01-7657-4fbc-8daa-24032b24aa24 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:d4ea01e0-ba6c-45a0-8db0-0c9e7b1e6c53 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:c2e45eb6-ef4f-415f-9b4d-127ab7a8e445 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:ecdafc3a-9364-4874-b2c2-2da01a35c736 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:34ac2464-5ca3-4de3-adbe-6f179760c5cd phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:7b3f906e-b927-4627-a03c-6127da5f7933 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:91d12e13-4d33-432d-94dd-9dec77fd132f phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:c00b0469-278e-4e42-896e-02959f614f58 phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:ffcd98f3-b84d-4df0-9115-78b84ceb4354 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:ea07ab40-a2a0-4468-a10f-5f481991ffc3 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0009794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:a94ab8e3-06d9-4e02-bc52-609a781d3d78 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:8fb44b91-db94-4580-9ff1-f5a30858cfc0 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:3fd2263a-3a3a-406d-a04a-66c742f59b8b phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:d2f92d9e-24de-45f1-a96a-30cda9ce687f phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0410030 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:acd8f81e-ba5f-4d2a-82c9-1353f9d80e43 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:e1246e4d-c104-484d-a0b0-766b4341e561 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0010751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:81c68bee-e6e6-42b2-b8a7-163b290f6c80 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:214ea104-ffa0-48fb-b3e4-884a0865c68f phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:76dfdba2-d25b-419d-bbfd-dd7f962e1373 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:0fbdfe5c-d146-498b-a6e8-53e73819e9fe phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:c4cd8ac6-c6b5-4868-918e-cc6529e416d6 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18423521 uuid:537ff82f-ef5d-44c9-96b2-bd790a1136bc phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0011323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:1e96d294-5d84-4f6c-adbd-352c5aa493fc phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:710e2629-34fd-4acc-b0a4-ddafc54a3f98 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0000480 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:9027d404-75d3-4707-ac7a-ec4022c84d10 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_phenotype HP:0002216 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18423521 uuid:80a7974c-1907-45a8-b3bf-fef9fe31afbb phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_disease OMIM:113620 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:76871f60-1edf-4961-8b8c-8bb608711bb4 phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:has_gene HGNC:11742 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18423521 uuid:0b77d44b-2f98-4968-bbb8-943aedf599db phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:5c77cb7e-d7b2-4c28-9009-5a1035b47a50 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0002901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:e0d5c837-9c47-4dd3-abf2-2358aed1813c phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0005791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:9ea8f54f-65bb-4ecb-918e-c62475c25212 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0032458 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:f6c45fc1-68c7-4420-b0cb-83ad3737d810 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0003868 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:bee4569b-9ee3-4375-ad55-789725087a97 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0100774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:f4095899-1c6b-46f1-b8aa-a9fb65bfd236 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:30034812 uuid:564196e6-a389-4b07-b693-72b0481bd50d phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:30034812 uuid:51eab28b-4c36-4f1b-945a-ef0ea521ad20 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0030834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:30034812 uuid:38d5f0da-6cf9-4b49-8914-fc68daf26535 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0002653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:30034812 uuid:f2fb4b40-c000-4cd4-9573-62685c5785d2 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30034812 uuid:45e6e3a7-cbf4-4a53-a89e-57e78ac419ee phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30034812 uuid:e15b1e4b-34a4-45a6-a039-03d1b20d2fa8 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0012100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30034812 uuid:e848bb74-0379-4881-9b7a-8fd520e94f10 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0100543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30034812 uuid:b63d4f86-5cab-4c54-8cb3-54a4737ca077 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_phenotype HP:0003115 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30034812 uuid:646ead68-1de9-429d-ae27-97dd66faf688 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_disease OMIM:131300 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:30034812 uuid:2ebe611a-38d6-453f-93f3-a210b86569f1 phenopacket.store:TGFB1.PMID_30034812_patient biolink:has_gene HGNC:11766 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30034812 uuid:535999b7-a77b-4863-a1a6-0c70c88a573b phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:7b73d669-ea4b-4347-b5bd-9fd5b2342bb0 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:c77cb702-e3ff-47e2-b046-f07d6f09aea9 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:d4cd85a1-0ccd-4a3a-a90d-5ec408616afb phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:17916ca7-83b3-4684-88ff-adf1a512c385 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:587dabeb-c0b7-47e0-9d8c-0cf793203cc9 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4e287a9a-19be-4f7f-8154-5e53453ad339 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f65592c4-b55f-4808-86df-489265aecb05 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2c71eff3-7a4a-4697-b57d-9bc15aab97e2 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:fc8e4fbe-35df-41f5-81c7-e91565edba63 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c3a6b780-eb7d-4246-a850-6340113df660 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:a39314b0-b601-4784-be7c-e3b4f590ea1e phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:acaacb65-ce84-43a5-9f90-c756921a08d1 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:19b3cf43-bfa1-4b44-b5cb-c17a6fc32f35 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:d920b079-0231-471c-a2a6-59f55c106413 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:88368533-c16c-4850-829b-4bef72f1bee2 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:8f2efd1e-5ab1-4d5d-b019-26415b5518d1 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4224c5b5-c818-4d70-937e-1c23fddcd2c9 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:7d67e376-85a4-485c-aa93-6a105670c666 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:30007c7a-dcb1-488f-91be-b70d49b68018 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:fc02d04b-d29c-4c9a-aa7e-e86c0ec1b5e5 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:265d872e-6de6-4063-8c2f-2c9af4ab3d14 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:680d053b-7f4f-4cd9-8eeb-5af88d77d8e9 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:b89ae45b-61de-4487-bb78-4b5237b3fe0f phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:82945cf5-3078-46cd-bab5-14cb5ec2e69d phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:fbc4fda1-52a8-4908-974d-39c064c89d48 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:47ef9aa1-21f9-46f3-a418-0f811deb42ff phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:18e48dee-98e9-4db8-a07b-e348cd8e3049 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:81e62e48-5449-4618-80ec-3bbbad82f40c phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c33501b4-368a-459a-934f-945bf1a6c940 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:cae23911-8dd0-47d7-8808-cb233176dbd8 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:3a1f4340-4ddb-41e2-adbd-d4924764a76d phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1bb9382e-0659-494e-a841-920e33bffec7 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:12bbe867-7e87-4bb9-8c36-fd4909b1b72c phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:7db3ba60-d110-4aa0-9c34-0c1ae54cd515 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:a622fffd-17a4-40f0-b797-4b444fc74f88 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:5c4f4369-1b54-45a7-a90d-2ddafc000c4c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:63197af2-ed50-4ffb-b4db-78fe85228446 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:d95f0f01-a2fb-42cd-8faa-ad7e00c9a0d5 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4b813af7-036d-45bb-af72-dddcaeab3928 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:dbb84c52-4292-4058-a19c-063244c2042d phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:3ebb0c71-6619-45e2-a988-1262857445aa phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:d2fe15c6-f51f-451c-9417-172ad26ed938 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:3e85b0f9-75f1-46b4-8f73-278c8b0b0141 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:ea15e9ea-728b-4371-909b-f0a84a8cc955 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:ef54c2e7-c52d-41b7-9362-8c0285ab1bc8 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:792c6edc-b28c-44c9-b142-e58ec8dbdef2 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:98d047fd-50e1-4ba1-bc00-dbb0795ab769 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6b1e0270-b7f8-409f-b243-638cfa6e6145 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:cd6fdbb8-37c9-4af6-af0f-ba345c8493de phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:a04e0cdd-329b-49f9-8f45-0e9e9a22387c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:0a82aa85-d3e5-4e95-94db-96df2ee723c7 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:dbc54080-f782-4c67-8d72-6dfd8968dedd phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c4e91194-5452-4681-8adc-ff693956b08f phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:d33f7921-5146-485a-8882-01f2b24db211 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:a1fa3071-d362-4e22-ab9c-7b6cc24249c0 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:2f8c34fd-6a47-4d92-9af1-251d1bd31bef phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:542e51af-589a-471b-8a0d-17a0e51a1207 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:55c6fddb-f071-4141-afa1-e1516d60f8be phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f466da9f-1374-42d2-85f0-bb2c5ac99211 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:e08ff54c-4c58-4a17-8f5b-82316f28bd05 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:fba19649-ade5-4b27-aa64-43cf8a74a413 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ed3d03a5-b9b2-4cb1-8b8a-07a469902445 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:36b314fa-5bf7-4c0d-9095-6f2394c22480 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:d38addbc-7d55-4cfa-b5f7-b722dec6b294 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:41edc670-282e-4db4-9691-5d12f1e6c447 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:9c4887ab-3f4b-4f8a-8b9c-d6210e4c6914 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:087aea82-c660-41df-9fbe-053a77e7b05e phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a30a2897-c1b0-442c-88c7-b426f4d0054d phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:358234eb-767d-47e2-a041-89ca09121e0e phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:3b700930-f95e-40c3-8ebe-ed610916f8c9 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:3362dd9e-92b8-480a-bd38-7f5bedd55ce0 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:267aad63-60e2-42aa-947d-de8fdfaf31c3 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:5f551c34-8889-4764-8f17-ae7476187547 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:dc1ca4c4-4543-4200-ac5f-2a33cf8a0dc9 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4d43a261-7552-4a36-b66c-ffd8279f6a82 phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:c30494d5-aaf9-4665-b35f-e5e9394ea15b phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:41e8d0ad-f2cc-4d29-b5e4-b4da945483ad phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:66781ac9-f306-47f4-a138-a8618530d998 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:970d31e3-5000-4c91-bc22-b73d73635d88 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:9e96ef27-b0cf-407f-a211-501f2b45d09a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:38bfdb13-bed5-466c-99e8-bab9da32d585 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:b08b4fe7-9030-4b30-a4ab-eac23f7481b6 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:68d5827f-aed1-4d9a-ab0f-121332fe0c28 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:be124f50-802e-40f7-b887-769d278d107b phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:bca92d84-e229-425b-8e46-24ba2898a26a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:0e03d8d9-104d-4c68-86ce-f5a5f124ac58 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:072859a9-0190-427c-bce0-5bf79d3d43f3 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:8015c36d-3c69-4e1f-b1f4-291451e188c9 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4d18ef63-dae1-473c-880b-dfdb8a13a631 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:6a021711-6a5b-482f-a1a5-0a3d827ae4a5 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:67114ae6-d0e8-415d-aa0e-4809b7d30f2c phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:55f3b833-1c74-4588-816b-1088715ac18e phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:184a576c-3abd-4e3c-8ef1-1014988707ef phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:95c78169-8d23-4427-b7d1-8c3c09c38aed phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:457c40da-9a2e-4964-8555-7efc0a400ca9 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8fa562bc-e34a-4d6d-8f1e-5b37a9a91af0 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:dcf11793-8b5b-4ed7-88c5-e5620be6e1b0 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6d3d7f96-8312-44b3-8ca8-3fd1b1525bd9 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:561486ce-098c-427d-bb22-61c081f40034 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:ca446ec9-200f-4008-adb4-d8682d1875e2 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e98662ef-bd24-42ea-b6cc-5164b7c8b9a2 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:75a421f2-8f57-4ba4-aebf-4d4f07cf9458 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:b5b4d34d-21fd-4e90-aa1a-2f6e695b56b8 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:c8f37aff-9212-4b69-acc8-b756657a4625 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4c670e45-b64a-4757-92ce-eecc881e5749 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:76a1b4b0-5f62-41ca-8a79-bce1d4e80324 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4c128735-8e97-46b3-ad0e-49d159b787be phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:c7997c7f-de4e-4079-b966-20bf622ef769 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:d784dcf1-e0a5-4b21-95fc-7e0c57465d59 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:08293527-9f58-4f27-9d1a-907856e9e607 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:7c6afd60-cdfe-4db4-944a-76e3856b7e31 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:121bb1c5-eea5-4758-8e32-b00066b140ae phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:52117cf9-b4ad-43e4-ad52-9a492cb743ad phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f0585368-4ac8-41c0-8697-4af01cc0b953 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1635d3e6-2a39-4576-aa90-b0dadf101717 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:58dd2c2d-d2ba-468f-8e9b-7d728996a484 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d1be783e-c522-42f9-b38c-c0f9c1876f38 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:611e3bfb-415b-4710-a770-f918f4656a90 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1bf08833-9870-4ecb-8e37-044e4942390e phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2720d456-4ff3-4ca4-a7b9-a2b7e55cea43 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:89a98d9d-19aa-4638-bf68-9b2f097f12f8 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:53e8693c-0ef9-4126-8a2f-7f6a7ae76813 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:20f8ab63-b086-49ac-a792-c9b662b62479 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:851c123b-76a1-418f-943d-0ef00abad960 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:b0a710f0-466f-470f-b0c9-1068f711e4f2 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:6ff6b8fd-8a22-40c0-889f-c8fe88090107 phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:a57075be-f217-4cb9-bd21-997f919989cf phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:9ec3d36b-e8cc-408b-99a1-28cb39f61ef2 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:730d983f-4299-48a2-88a0-0b2abd64f79b phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:65e2d1a2-781b-4828-af1a-cdc2022b137f phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:7ef2d307-e1e8-45a4-bf98-ba35eaf49be4 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:d65a2e6f-2329-4a01-9304-0f4d94a3bb3c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:0659c674-6f3c-4001-a86f-21ba5edd03bb phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:98cf8a9d-c562-4936-8bf9-bd1217402884 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:0c03edee-b43a-4a20-ba3a-c7ffde30e199 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:65d068cb-1a7d-4f67-86ce-2ccacc25118c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:df7f7408-69f6-40a4-ba29-8e604a66377c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9b7a29bc-428a-4761-a032-d022b573300f phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6564afb7-3028-4a2d-9ffc-110692eccb3d phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8d2cfde3-64b1-4773-a1e4-a4cae2f1ea8c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6d593354-1c71-475c-a42a-6a7561dfe67c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8937d55a-db5b-460f-b2a9-b78ab019461a phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:a4863de3-caae-45b4-9d8a-9fb35a8f4ed1 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2145f1c5-055b-4d15-8542-74bcb72d651d phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:a164e090-40e4-4f81-af4d-2906880e0c05 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:f7bc01c3-9949-4c66-b92a-1d44dd80895c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:89863d66-b123-4bb8-8c97-27ef08c1b1e5 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:bd5a0786-2ea5-45b5-a62d-cea6ad1b7ac3 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:1e80b680-be1b-4100-90cc-c847591682a6 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:a9d7be40-b6d2-4adb-ab26-30e4ccd9b061 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:dcb7940d-5c86-47dc-913c-4e17b877b02b phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:966ceb48-17c3-4f3e-bff0-d4772a73452e phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1c6c6578-ec66-4d7b-83d9-89cc79c14b09 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9d46f850-fb06-4690-a62a-fd686a19bb8f phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:23ed0de7-d0be-4169-84cb-653bad461220 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:64f6964b-beac-4cfb-833b-15dc0759e79b phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e6471b24-a9ac-4783-b9b4-cd8d64d924e2 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:7c5cdbab-207b-4f3a-83cd-f7ab1243cf1a phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:99286483-a97b-40d5-a837-0a9d9b1e5dc7 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:35c57a54-d9ae-411f-8cb5-83ea517e64de phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c44998f2-5751-4ec8-953a-60ce1782df54 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:38dfd883-ddd4-4281-a5f2-b54797631c9a phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f0a00669-f43d-46e3-89f6-46ec100d35e4 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:ad6dbfae-6fa5-4db5-b488-34968e6d889e phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6a9f2d4e-ada2-4fee-af15-db5511aeb104 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:551832ce-1a8b-429d-a832-6777d63d2256 phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:45875701-67d2-4276-9994-a340f77b7315 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:50715840-e6df-4b17-ab2f-1a09784456f4 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:e19b486c-b14d-4ee3-a6ed-7f87c3bb970b phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:74a1cd7c-baa6-4c6a-9fa7-0db476de0a0c phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:db264a3f-6f90-4195-a7b5-72fae0a3e7c7 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:c6486982-dcc1-4e35-bd52-6fc74aa209bb phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:77a6aa95-3fa6-4f6f-94e6-dace5239a000 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6901998a-a70c-44d4-b3f3-d765a8b18982 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d9c114ce-694a-459d-bdb1-7e9498eaeb8d phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:cbc8bf40-54eb-449a-9075-8ffd48c60ab7 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:dbedcb92-b317-49e3-b3d3-a303b171e4ad phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:129456ec-e0ff-4a76-81f5-97eeb103137d phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:ffec8060-24d4-47f7-b67b-3ce91efcbe30 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:b3cea2e2-19ab-4335-bb11-6ddf219e0077 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:00a8a244-1e99-462a-b7c6-8a90ff255a29 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:bb492935-ee89-49b8-8121-500464fb0b40 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4a095c7e-3f61-4bc4-907f-64ba821f37f0 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:4755499a-a112-4318-b5dd-2e507db93e3a phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:347f8707-f9c7-4c57-b648-f07fbf64b338 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:a4c04297-cb40-40af-8e76-cf8437908317 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e697a4dc-8bd4-44ec-896d-d21e6ebd5b1c phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:33efdeee-1b2d-47cc-adbe-8bc2b217e818 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5ed7cdb4-bb1b-49c5-aee2-7b961aeff898 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1f9a05a9-7d29-4463-8ae5-b42e29c9bdd5 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:39f88682-d635-4d95-9090-3819e6e2ca7e phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1d795062-654d-47bf-9195-00205768a27e phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2577d887-837c-4e37-ab4c-cd9a10c7e99a phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:187b92fd-7e44-4312-9bad-bd696a2f2dd2 phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:992901be-bb2c-4331-841e-53f36533d86a phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9d4fe7ed-7f7f-4e07-b9d2-622d9c48206b phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:fd6d114a-420f-41d0-a2d6-6e125992c00b phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:c9fbd715-f0f8-4326-93e2-49c21b140d5f phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:b3cca762-4025-4971-a260-380405405d7c phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:339136d6-c886-433b-ad9c-1549f933554f phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6dcf0961-e868-4688-8fd0-1b23c8467ec0 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:402c0e32-fea0-4f7a-aa6d-abc586be31b3 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:c0a80a83-4a5f-49cc-aceb-509bc7fe1814 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:7b63c797-b02e-4b2a-8f15-951ba6773291 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:078486d6-8035-44ca-90cc-29ffd5eb115a phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e2b37a2b-c588-4158-bef5-60ec8a482a6e phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4958440f-4643-4102-9d9f-49cb628507ad phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:60b6bea1-d85a-41e2-bde7-a9df48a9bf49 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:45abe558-c65e-40b3-963c-535fbcea749b phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f7a510bb-b282-4848-810a-23434eb4ed98 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:081ee650-f6cb-4629-9219-c130532ea7e0 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e67d7d94-3441-4d4b-bbe9-c08370e77ce9 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:09654eda-2227-4338-85b1-f8640f71100b phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:2f4aa910-db0c-49dc-a1fe-290241a0fa49 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b0ba19c7-cff2-49e0-a1f8-c5a738c13948 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:532e8f89-4238-4271-bff2-6c48d330e96d phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:2f61f79a-19e5-4486-820d-771a727f71f6 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:537fe060-281b-4546-bc21-54da10ec19f5 phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:c9126d7e-5bea-4f8d-a563-124fd5641009 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:94f33e3d-b5fa-469c-ae4f-6979b968ae90 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:bd989203-e26c-4ebb-8e10-69fc21ff376b phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6ad7dbfd-5a7e-40b3-bfa8-aa3b6cca758a phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:7bee0d60-96b5-47cb-998c-d38c1482ff31 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:fa3adbb4-ed70-49ba-a501-fbc3fa68b9bd phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0025643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:8dec7678-710e-44b0-ab29-c4a3013ebeb2 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:9775dd2b-0add-4141-838e-29fbc655d4cf phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ba755e3b-960f-437a-a83c-1a66c8a61092 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:d4f7f9c8-d5dd-4ddd-9a27-dbae0df9be52 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:688ec2fa-15dc-4b75-8ab5-30f92c065a77 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a8174473-c251-41e9-a3e1-8d6e4bee8d6b phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a1c10e8d-4857-4762-a2bb-6951978b1b25 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:2f75f504-ff54-40c6-b790-87b8bbf75efe phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:119b9acc-012d-4d07-bb26-8344124cb266 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:877fe4cd-c26d-465a-bcab-4ef2fba9aa85 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:41223cf4-aad5-439c-9639-73bf80af86e3 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b94a5b12-718b-4226-876b-4716c613b22a phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:471ba3a2-ead2-4bdb-8a77-91ee0974912d phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e4d1d8d0-5253-47f6-808b-0f893490aba7 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f60498b3-3712-40e3-bbd2-7169957cb58e phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b13b6c7e-08c1-420f-bf78-f7eca24dec84 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f1d632dd-4a95-4098-9ac2-7fd8c8b48dbc phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:31f11bf0-7ca0-436e-9816-024c98d4ce52 phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:8aa8a23a-b5a7-4c5f-bf45-14a54be912a6 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:bb2895e5-9779-4f45-87a9-6045d192d529 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:baa09530-9325-45bb-a1ba-e29652626750 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ea6fc46b-fa5b-40c8-a312-6452a3909761 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:105bf35a-7c08-4815-a629-ee90e57fef60 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:25d596b8-efa7-4bab-b40f-129b27c1a370 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:05f73535-4cf6-4b9d-b21d-faa668e4294d phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:518b20f1-097c-419c-a0fc-4e1b0da1f727 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0025643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:acdb0dc8-a0f1-4f13-9863-89c930c68cd4 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:b5b6dffa-47ec-415d-80f1-fc0ec896322a phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:93a8af21-0edd-4fce-84fa-bc92d48cf2ff phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:4bca362a-8c6b-4a7c-be9e-36bb913decb2 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f86067b5-9ab9-43ee-94b5-6b35499216ee phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:028a3cc9-c1c9-4400-a395-61e2346a10de phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:d9055597-3580-45af-ad6c-4880daa7a826 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:87b911ea-2cd1-4a6d-afa4-41670887d58f phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:cd47a4a2-6780-427c-b072-ddc9225eec27 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:965a9226-a564-4051-8c6f-2c1175483874 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:053a182d-344a-4134-97b5-2133d20ae588 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f8dba3df-2907-4345-ae57-e58350a0fd37 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e5e79324-810d-49fb-84d1-d803338981df phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:253e9478-ac26-42a1-b9c3-402ed36bcadc phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:544d02b7-447d-49d2-9c73-4bb2f6d3d70f phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:79ca87a5-0c4f-49d0-8522-f87907be0891 phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:e0b54426-9a3f-4612-ad06-45baf7d75825 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:01be568d-8ed6-4661-a996-ca9a9a080ae6 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:bf211b01-feea-4b12-a742-70aa058449b8 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:32ecaf7d-f262-4787-a55e-58c14edca08e phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:e6a64f7c-4876-4f0a-8cd5-0c42440ec653 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:fbd122e4-c1e5-4890-985a-dc9b21ac5065 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:25da1e06-88cf-4c12-a0fb-389fd29c15f8 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:7b0fb76e-b522-4c4b-9df0-b7e8cfc2cd85 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:348baf97-c4cd-420a-ab7f-491cca66d5eb phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6b7acc70-1157-492d-8c7d-383f55c9e82c phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5608abf7-c30c-48e5-ac87-ad39205a1f8b phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:006a13a1-8ee7-4da2-baaf-c0aea2991c6d phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:977bf62d-02c0-4d64-9f8e-939aaf7e6473 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:65319187-59b7-4722-8eb0-7d495947cb1a phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:403bd1b1-9a9d-444b-82cd-aeff1f8561f6 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:100e73c2-7a8a-41c0-8494-ad5fd04ef02b phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9b3b4254-26f8-4895-9807-03f47240fd32 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:3af4c3aa-afe0-4495-abcc-2379eacdca69 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:a147cfb2-1945-42ad-9af9-694d7890cbaf phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2d6aeb9e-dcf3-4f47-9e0c-f72860319c11 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e8005d19-cc1e-4c63-8899-a0bf19745630 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:7e516327-9e40-4621-a39a-6d69654a2958 phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:70146aac-2e9b-4393-b2cc-7fe40ee9e9a2 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:3c0c5aae-6cd9-45da-88f1-7f52137b282a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:069f6bde-0a03-40fc-b2db-a57ae2821f38 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:0205476a-0d11-4e02-b9de-75ab35314f73 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:1fd0be6a-3743-4eec-b581-70183d5fada4 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:efceef4a-1524-4fae-b4db-e71b89623760 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:5c74fb03-7ce0-4eaf-bf8f-6f5e8c6f35ac phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5c2a380b-a74c-4d7c-97a4-b522a953b32a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:cf3590fb-0535-4fa2-a3a6-6905a814f36a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1f4837b2-3928-4c65-a419-b8ef2e367159 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:cde91f0c-363d-48b9-92a5-b6986c453e4c phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5baf5c30-1479-491b-b629-c05fa16dc19c phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9fbe5ff7-d19f-4502-99f5-77624dd9a347 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5e5a2d54-bd59-430a-9515-345a51476e1f phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:11bd87b4-55a8-415c-8735-5867d13a8c8d phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:85269c19-5166-48cd-94df-086cc92dd0d4 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e9286b81-b8d7-40d2-bee1-97d593107f26 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2e79bc14-56e3-4eee-83ec-d6e88db9c421 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f1adc7f1-3e35-44b3-9ccc-042a37a0a60a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:c2ca17e9-ebd8-4213-b18c-38763febd934 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:40d78552-f6de-43b2-9feb-cbd34d871e64 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:8afc4ac4-6b35-4b9b-bce0-1a2f169a4f57 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:9d3ff77c-9e86-4597-b75b-9ce0f29ca127 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:df459af8-8439-4502-9877-04868e210180 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:d8ce3d6d-6f58-4d34-8214-e72cd836d812 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ebf01510-fd83-4a63-bbb7-5d4398c454d0 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:4ce72b49-6a1f-47d9-815b-36bbb11eaa6b phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:913e6909-ae76-46ee-9221-c6111d753730 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:0bd7c26e-86ca-42d8-b0cd-4f0bd87ea2ef phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:d1e60e5f-959b-43b3-8c97-3ab5532df420 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:dabcf395-634f-4cc2-9da7-3f9f05d650d2 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:733cd076-6d36-4760-9386-72f595ab8778 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:c70b4291-849a-4fa0-a544-8cbab05dd5e6 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4cc2d34c-ced1-4f15-8785-db0425cb2428 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:9c7ee156-fb90-4c98-9b7d-c20113c59722 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f6cbbd99-e2de-4196-80c8-c5797f8de114 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:fd02f15b-dc61-45c4-83a0-45de1276f404 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e2abefaa-d2dc-41a6-a17a-198a271fbcbd phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:0a418c6c-3447-420a-b9c5-032409171009 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b0e9b73b-fd4d-439e-aa20-f9f75dcd129d phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:27ca080a-323b-4d24-a8ae-577e64f0de8d phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4f542afb-d15d-4b3f-95ed-e5649d0ecc21 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:6520eb61-35a2-4868-9954-df821ea870e9 phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:b75ab5d5-9ec8-482e-ad08-37cb7984e54b phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:20f3a505-20ea-4934-b6cb-e35d23082f58 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:abe9510e-7bd0-4cae-bda6-09113fdfdd97 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6faa9162-8383-40f0-84c9-32b3e7cb0f60 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:2ddd0860-3b4a-4ed2-a742-785ada086478 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:bc98db96-474d-437f-b950-ed7053cfef86 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:81653d0e-e42f-4ecc-888a-191cd4540c1c phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:97486be9-d7be-4cc3-9578-0ea1e6cb38bf phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:910bf5e8-b029-4262-8b20-a94513387331 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e6021313-357f-4b47-a541-408f1bc68b2f phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:193cce05-6f59-4e8c-8e45-03339b079d63 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:2792d199-cffb-4f3e-b99b-cc005828c3b1 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e51361a6-dce7-4dbc-8619-c5b4aa48f809 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a56fed46-749b-48cd-8998-b7bca0de4fe3 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:47b6677a-de76-4664-aad7-83437d110d93 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a9a32def-e84e-405a-8fb5-75a461af59ea phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ae44792c-6429-407f-8ff7-3dbf8e708eea phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:311e8fa8-c96a-4feb-922b-8ae0ff97bd8f phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:2037ddb4-eee5-4dee-9832-833e9a6739fa phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:38a09820-2810-4860-9dac-1a94fd3f9e01 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:efd28b41-fb46-4e8d-9a05-838639b02244 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:10eb1f95-61b8-4b65-9957-95adbd6b07b6 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:53381fab-3769-444b-bd72-a82af52d891a phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:f1cd937a-8d71-4028-9b83-7b8577642d89 phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:6c04449a-8c6e-40b4-96b5-b6e37b48c5cf phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6c9d1195-3a07-4336-af84-ccaae4460618 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:68da9644-16e7-42bf-9d55-3ca9bd9b0269 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:03e4cadf-d48a-4689-b7b6-7902b41a73e2 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:4bca5d66-c154-42a5-a159-68cb044de94e phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:bffbcf36-a401-4d97-9f88-f04ae38dc201 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:225732ae-de68-4a6d-9c0a-540758528a97 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:c41781c1-a759-428c-8fcf-2210a42e2e47 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f0edd174-337e-4d2a-918c-f1e00bc4d8eb phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a4b1b9f5-d942-4ea2-9e2a-212e7e82dddf phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:047844b3-03d1-4ed5-8388-536295ab8b2d phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:49d7ea20-acb5-4f39-b44a-b6cd8dec76e5 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:43795880-7b21-4c4f-949d-debea375d107 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:c00715c5-afbb-4464-b59d-2492d64fe902 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a0c089d0-bc80-49a6-8a7a-1e4d68ae81d0 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:bf2cd947-30b4-48d3-add3-ecc25597e905 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:1f90096a-ade3-494c-8100-dc75bcbb4614 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:d39192bc-2b7d-4c67-94cf-9c9ff7176b44 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:512739d7-5836-4a5a-a938-f2255be6e0fd phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:6773ff51-5014-481a-8acd-e01ad5e188c8 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:535a61cf-34cf-4fab-97b0-fb3c8d60eb7c phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a984489b-6d3d-448c-abe9-6ac00835dfd5 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:1946a2c0-ab2f-4bc2-930e-cba5308d6479 phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:72c2c765-8287-44d9-922a-2764d480b2c0 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:c4885de5-5c0a-461b-935a-6f8906460979 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:3db41022-ed26-46fa-80c0-d84549ac0426 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e19fd7d6-2796-45f1-9bd4-e1bcbc386e1c phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:84cad19d-e5cf-420c-98e8-cbfc41f92650 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f5c2f095-9974-484b-975c-dc6b9c9f9a1e phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:427e1afb-0cb1-4512-a205-80336fb7ba16 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:263d93d9-eb5f-4195-bcc1-99f5f2f74abd phenopacket.store:TGFB2.PMID_22772371_TAA288_III_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:0194eb45-a5f5-41aa-b005-62b0fc7c62a5 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_4 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1974e97b-a8ea-4eeb-a68b-861cf2847324 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_4 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:98457a1f-1cb5-4b29-a56e-ecc409c0a767 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_4 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:a80e51df-91d0-43a8-a652-8e62ac37fad0 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:0af3bf98-f6dd-4e11-a818-870344a93fb0 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ddca3092-1fb4-44f0-96eb-a08f412ec33c phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:5082cb74-3f6c-492c-a881-fc5d6887b49a phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:1a0aa578-d63e-48a5-9487-ef0ab3573c72 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:1d580ea2-b2f8-4404-8753-06b4fed4d97d phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:cf7fb2dd-bc6c-4abc-a364-2c9442c21c52 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:d84770ca-5d87-4e28-8f29-2c79aa9d57b5 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:def59090-5de4-4479-be54-19cb8c391afa phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:5bd59b6e-a78d-4c9b-97e9-0377f80ee8b9 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:3de6772b-9520-4fb1-8b48-fdd9f06df66a phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ab10021b-73f4-470f-89d0-cc33dc1cbb5f phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:7f078e24-d51b-467a-83c5-5b9b2aa05a33 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:0e7aff26-71e8-4f21-8125-47cc8e7b449a phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:1a674a2d-2570-4c00-8c3d-455a99c875b1 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:6ec5c72e-e794-489c-9652-d1a1b864850a phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:1fd6ec33-c802-41e9-9463-6bf900766190 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:35383191-3e5d-430a-8b5f-95eb0a205184 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:87cedaef-71fb-49b0-bf65-2b3ca9736fbc phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:1f302dc7-32bc-4b2a-9efa-97620a5754c1 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:2c1f6722-dcc5-43e4-898b-5748a0f7b302 phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:d8301afc-8df2-46e0-b299-98bcb2242fef phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:8cb585c7-fc88-4d55-96ab-0fa1e4ee6a4c phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6feee558-e402-4f8c-bcd8-73aef52bb759 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a0c55c24-3353-4922-8d4c-014fbd19f1c4 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:56ce1695-ad93-4e69-93ec-4b4e5b2ed01c phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:9830edf3-435b-4491-840f-1a84f356757a phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:c88d9d0d-135e-4a16-957b-4a01f4eff23e phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f926f74d-d998-4825-88d6-fa75ec2be979 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:30415511-8ea1-4f8e-b194-11cac80c25f1 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:8eacfbe8-ac07-445c-b337-8f221529541c phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a75b7943-8fd9-4da0-a24c-50db16b9d4d7 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:8ca21fea-8b84-4bee-ac02-f5099be64d8e phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:450d269a-bc4f-465c-ad75-930acec78fdc phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:1afffe0b-a58e-428f-bd68-db63b1d1a8d5 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:d507b0fb-a6d4-4f00-a82a-8a3c6d38cba9 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4ff0ce5c-321f-49d0-a5a8-c48458df07f3 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:c535426d-2e1c-4d49-adaf-cfb9fb73cbfe phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:151fdd2c-ce13-4c6d-aca9-b386d416a28b phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:a444dc61-298a-41b8-bfc7-edea4e977160 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0025643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:1f69afa3-1721-4471-8284-9f0fb2275a5a phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:cd9d776e-3dc3-4524-a7a5-2179a0b60b70 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:933e12ca-d606-475c-b81e-548d3fcebf0b phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:468f9919-e89a-4677-b89c-d48ea11d5c58 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:f2057d51-a5f3-4258-9eb1-7919e6bbd521 phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:28ed46ff-82f5-46bc-83a4-d1dfeacc7165 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f31548e5-7ade-4104-a3c7-71be2a6d6579 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ec074b47-28a7-4516-82e1-9c3bb917e2de phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:b10353ce-7e4e-46a4-b5d0-8ab9bdd72c32 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:0fe0945f-a71b-4aef-a7d2-2009f3ccbc7c phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:c1eed967-f10f-4d97-9930-03e41f1d56dc phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:294ca714-1eb8-47d0-b2e0-646f8fb644c3 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:46a0db36-0516-4fc7-8f4a-319c25dc6cc7 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:fc21c4a7-1b18-40ec-ac44-ecca7643f434 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b4474af7-7010-427d-98b7-597072217f8d phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:3eb5f2b7-4dc8-486e-a72f-d37154aa102d phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:6287a82d-5dbe-4807-a10c-608c4f753d6b phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:173c6d3a-b159-4068-8e0c-360a99200335 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:fc3551f2-4119-499c-ad6b-6dbfca9f7f0e phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ef0fe8a7-8a84-4d65-841b-9dd8e30af88c phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:659584da-9eb7-4f81-846c-8d3d6facd34a phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:7a7cc1d8-4390-4f09-898d-1491b8aadeff phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:5dfb00cb-56f4-4204-a03d-ef3cfc81e88d phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e9be7cb2-d76c-433c-89ef-f99616e2b008 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:19d40074-602f-40a2-ab50-d1f3b9591449 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:44c53238-dcb1-49bf-97a5-66be4af9a014 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:c92fd400-e647-4bb4-aef6-67348b9b3d19 phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:98d363a4-5983-4708-acc5-5cf26ce6766b phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:d9b29015-da83-47ec-8574-e63b0aa30100 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:05387657-9332-4a98-9f29-783cbb5455a2 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:da2c6294-b149-400d-9127-8f31604b008a phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:0602afb6-d388-426b-a37a-42c1f7bb119e phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a432dbde-c99d-4bcb-a052-292afa7a5ee8 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:3209d8c0-fe60-46a7-9fca-8bd4106477cb phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:7ca0483f-bc2a-47bb-a83b-77841e8d2c95 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:4d743a7c-e845-4dae-8988-6bf8d7d9de9b phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:e64da524-fc8b-4833-b89f-5b5c2bc8c6b6 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ce454db0-3f2f-4227-8777-935958d73604 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a1a88700-4a96-413a-a45d-6b7917be4623 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:c9e5ad78-880c-45ea-b82f-0515b2cf85c8 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:3a094f39-465f-4000-8fc0-9640b8022acd phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4ceaf9cf-f59e-4619-bae4-a06fc9862156 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:cfcec0f4-7cea-4e39-951c-49c7036664e9 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:31f8c22a-33ff-4ddc-9525-53cdf598e929 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:18f3cecb-0b52-420a-9945-471107eab017 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:03d3b4cb-6207-4ed2-91ed-c6c13c39d81d phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e59b77ee-6b2a-4629-80da-5a963405663a phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ce798be3-b71f-40c7-a68b-98354fc449cf phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:8d439424-c690-4997-80f9-5fbf5ba3f5f7 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f41ad491-080f-4c6b-8f2d-02237f021e76 phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:5e8701c3-503e-430e-a156-739d49829b5d phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:7f1bc3f3-a424-44f1-a8b2-f9f08c1dbe5d phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:cad8c9ee-cf00-4f4c-b964-cf59e260a224 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:cabb5fc5-2464-4243-a2ca-0887dd6304ce phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0010812 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:31428d26-485f-4ed5-8b5e-97e0cbf30196 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:65497f07-a79e-4063-8af7-f827b82c68c0 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:b64f4538-e19a-435c-885a-24e79237f753 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:02379391-cf03-4c9e-978b-456102e3ab9a phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:d2efc90b-9e56-4e30-8cf2-b12439a58692 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:25163805 uuid:e3cdf64e-dd27-42e3-b039-05d516164dd2 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:25163805 uuid:0c4500d7-efdd-440e-9b5b-39d336ade954 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:25163805 uuid:37e2daa6-c051-408a-aaee-799b51bcf301 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:25163805 uuid:4d7e2dbb-c249-4c77-b5ab-b89c9cc9cb08 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0033981 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:25163805 uuid:ce8f8787-d2f7-400e-8fcb-e8f653dc0935 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0003834 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:43de9b8f-b600-4293-9238-9c243767d25c phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0004976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:6f538097-9b84-4173-83f4-0620ff2ea937 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0003418 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:25163805 uuid:d23c28d5-b36e-49d6-bc8e-771805c9749e phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:0c0903ba-dae1-4446-8e66-5e387f8865b2 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:995a614b-da2b-4e49-8681-3e812b97a2cc phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0008441 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:8011b4da-fcc6-4b6b-87a6-417ae47e419a phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0100541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:745998b1-be2e-430c-bed4-bf578648259a phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:4a8d5cfa-197d-4d62-889d-335b8612fa21 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:a3e057aa-898e-46e6-9f6a-b56053c6e85b phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0034518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:3d2f5616-bf8e-4253-994d-92e91e5cd0c3 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0002315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25163805 uuid:3bbcfa91-a8ae-4d97-b194-bc495eb64320 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25163805 uuid:a19a0d35-924a-4c35-97d4-8fea96b92abe phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25163805 uuid:1da840ea-84f7-4b31-a8ca-b63dbcc27478 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25163805 uuid:b746a9e8-e942-4930-a21f-490e83ea0332 phenopacket.store:TGFB2.PMID_25163805_proposita biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25163805 uuid:69721c87-7c46-40f6-8dcf-f46e5e81ee3a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:b6f8fa2a-9488-446e-ad49-8ddc152482df phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:488f9c71-c7cd-42e5-98b2-446bc763b78a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:e2097a47-e8a9-4d9e-8af5-56a1b0fb5f98 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:da421a65-842e-4227-a66f-b5f6516ea024 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:13731d5d-80a6-46eb-ab19-2e80c5747c81 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:c802697d-f702-45a1-b7d0-80a58a14f45c phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:42a7e7b6-d833-4f2d-88c4-effbf128d228 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:e48de1a6-5a03-490c-a605-ec75846775b9 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:41c20886-83e2-44f9-910c-77f82368ac3b phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:fd32f08c-96c5-487f-9b55-dce0adb69c71 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:98d32ecc-e406-4aa9-a761-003c57d2d6b6 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:631c181d-9b48-4424-92e4-df30be3253cc phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5ed9744c-297b-4f25-a453-383bc3e94321 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:4e79fa0d-c218-491c-9e25-527210493cd5 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f2025779-35a2-4e4f-95c6-68854a4d5265 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:3edd15ff-5625-4cbd-8cb7-1c2e088e60ed phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d2c7e11e-efba-403a-94c5-a5e04cec1cb7 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c128dd66-407a-4f96-963a-e76bed9482c1 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8f7f5bb1-46e8-4525-9ddd-11c9e7ec5d2f phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:6c2e9710-842d-4b35-8559-3c1c845517f1 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:49b9b92b-18c2-4d16-932b-ff1b6c6674c1 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a6051bb8-eeb2-4024-a5ca-560e688b7671 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:9668b81a-373f-450e-b9d9-6b1a9ac12449 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:344a8c74-adfa-412a-b460-511d4c8ddd8c phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:5148d840-f60c-4436-981c-935de3dd77fa phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ed67520f-52c4-4acb-ba13-6ad4bb39c5b2 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6201b08a-dcb1-49b6-8856-74ed9384cea9 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:aa67a125-3254-420d-a5ce-29a6325f39fe phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:8c377827-60a3-4010-aee5-b98caae42e25 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f49647cb-5aca-4b57-a7c3-b11d8f8bd40c phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f37b0ee4-7d65-4224-bd99-0cc72b27c42c phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:101657d7-9549-491f-8166-afd5f3ed5df9 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:cccf2160-d63f-4ba4-a712-03e4bc8cf0ae phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:b546548d-06ee-4762-b354-5245d0c49ff1 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f5452551-11de-42ec-9929-338ea8889676 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ffd3d227-2b0b-4e03-afc7-6fe06bb978d1 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:02297b66-f70c-45c4-8f05-c4804083e1c3 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4a131064-5ad1-4b80-93d5-0d3ae3d67c25 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0025643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:94f1848c-aa1c-432b-9282-b77d5181eec4 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:75adc30b-39ae-443c-b077-8a843efb305a phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b9c8b523-9328-4ec4-945b-452ebbddfb4a phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b75c7bff-c463-494a-b1cf-4a0144a114f5 phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:1fc7e5eb-872c-4489-8114-8d1ff931ad5c phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:f571bf52-3437-47f3-b477-74c637bd6fbc phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:997f0cb9-38ab-4af2-8f44-1d445e9b7812 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:a81baba5-ac0e-4bd9-a039-c72777c2812d phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:68908d45-bea9-4d4f-827e-6317a894f192 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:f63ce498-3df6-41ed-be62-a0963d409092 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:8e6e1907-12c5-496d-8d90-bfa56a4ffa6f phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:32ac6372-a569-45c1-8b44-8954b34e4a8a phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:39d8dddc-bdff-4867-a060-5c352ce72f95 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:249a8f13-5dc0-4fcd-9eea-ee117210a6b9 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b1462a2c-694f-4dc1-bd10-77eb675dc8ea phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:302d07e9-6500-4128-a5ab-36ec5568ba67 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:e8c2da3d-64c0-447d-b0ad-5c52d43a16ca phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:37b5bbf8-b2a4-4fd6-8f2e-0eb82a505698 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:7e43586b-6b48-4de1-b1eb-99aac6208c02 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ab875816-7e68-4b8c-a6d9-e3a97bc29330 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:b705b363-ef6c-4159-bbb2-c08c5c1462d8 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:cc86d85b-573b-4344-b077-c8cd47680155 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:76112f95-20d1-44f2-9f7c-74f417db6151 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:87da4d53-95f6-4e79-ad36-3df69280eb18 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:5d1d902b-d72c-49a9-9030-377b37f747f9 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:d7faf3f0-18e5-423e-ac73-2cd09edb6720 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:63071cf3-c725-4843-8adf-b89460214577 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:b7ff95b8-4090-425c-b084-a0f5498caff4 phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:ed6d4e7a-b6d7-4fda-82be-5db93a2d33c7 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:68bf43ac-655a-4934-98ff-d98a7c2b80ed phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:521b1ed2-e198-44fd-985b-fcf243fd15ed phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:88438935-eb94-46fc-97f4-e67a3bd1e7f9 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f8fe9882-96cc-4324-8b58-9ca3fd915d0d phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:cf657117-8716-408c-a805-87c19cedf225 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:71063ea7-9da3-415b-b7b9-f3700607050b phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:a121a473-f45e-4d17-bff8-5d5946354b66 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:1029894e-bbb0-4ed9-bb5d-c952c7af4b0d phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:9e1da5be-53e2-48dd-9d8f-f27ed2043ff6 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:ec9a7e0b-6e27-4df1-8d26-d47627535f7f phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5d50a9e1-3966-49e9-b3df-c41f3b3e4068 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:fdd3d527-6d3c-4066-b40f-f1aed5b21d85 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:1f3125fe-e020-4591-815e-8ee6e4a18bb8 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:3af71d75-2649-4f19-9bfe-c2f07b0ec11c phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9ae3b86c-1ce0-4c99-bcfb-95776a11a810 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:cdcb3bf4-d0de-4436-b2bd-dc50fca42562 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:fe170840-7b8e-4137-a1f2-41f3d4f948aa phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:e0ba1382-9fdf-4a18-8834-05db951b18d6 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c79e81e8-d7d0-40d6-884c-924bf1e15108 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:85703778-dc86-49f1-8ba3-df61b49b6ec3 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f82b27df-b1ab-4a62-b8c6-3bc9c898e32e phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d515e71f-10e3-4ad3-bc70-bba4d2f95bde phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:26e19fa8-e6c6-4538-8eba-dcf559af41a0 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:52332b40-15f4-4a47-85c7-b77859d96379 phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:4c7e24cc-f22c-4621-b4b6-73aa05f3eee9 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:40c7e4c4-7fff-4764-9900-43b7a821f5fd phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:a48099e8-b928-479c-b97e-f6f11aba4c84 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:ce2607b8-2c07-4a50-bbfb-ab5f331d873a phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d28c5e58-8f21-41da-94a2-76b59617935e phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:801d7c69-c786-45e0-aa55-04d8acd5f481 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:9cd070dc-abf7-49c5-9621-b7db875c2107 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:18f61274-8341-4113-9fa8-db1b9c9da2c1 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8d5c25f2-07df-476e-a5c7-7ba08df72027 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:b410ac82-fe10-4dee-9712-27eb9611ccd4 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:51ef5937-3c40-46d5-b859-2b497822ab25 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:527feaba-ed9e-4898-8536-07c6d1149d4f phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:69a093f9-779a-4965-84fb-b14deeb8e527 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:48dfc3ca-3a6d-45aa-9261-be02c99cf82b phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:de0a97e3-2512-428a-9644-d804b40a0683 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:ce3b4a2b-99fa-43a6-89b0-d65004b2383b phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:070378cd-1acc-4c0a-b5ba-a6f41d57a681 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:68580321-6b91-4c49-8204-9dcbbce138d6 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:deb49a36-9242-49ad-90ba-f976dc952fb3 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f30ebad5-ff7b-496b-bd72-ee9105b34d7f phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:eb02a250-83f0-4c53-9429-7aaec0754fa3 phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:90993078-5bb9-4a99-89f2-aca09169919d phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:bced0e83-21ac-48c3-be10-61e7a9486b13 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:4f9f3e00-3307-4db3-9d98-5299ae06f4e5 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:2f5d0d29-ce66-4724-ae98-789b4ef95f56 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:c9caabf4-0332-48f5-8327-9a266262bfd3 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:3b16167a-b6af-427f-ab63-3de5f8413ce7 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:ddceee44-60a8-4132-b757-67be134f54e7 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:fe710cd2-1470-400d-a8f5-0f994f87a630 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:7f38cba6-bc05-45fb-a28b-c8ac407024fa phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6c703b98-337c-4cc9-9e82-09ae94b32dee phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0025643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:5ff85a3b-423b-4507-8dde-222cc75520ec phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:996c326c-0612-43c3-913f-f0a73dc748cf phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:62b525af-7462-498a-8329-ad28233886d9 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6ac108c1-bc75-46a6-a8dc-6422796ae20e phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:fb1f095b-06dd-4178-9a2e-4f42bbfb4304 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:0694e757-6032-402a-8f6e-9a7f7894504d phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:0a60b6ea-46d5-402f-9738-1bc803a8e76c phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:be32983b-e30c-40c4-93b8-4766c4b03f85 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:eac35139-8b32-4a9d-91e5-3fcac4e3277b phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:f76a1f80-186d-4a7d-a3d4-37c3cdf52126 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:85ac0a61-e568-456c-a583-9c2b6effa427 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:ba68c9b3-b862-461a-a431-7d5a3eb5a854 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:bf15bd42-6d3c-41c4-9983-a2ae1d72906a phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:1713ef3a-bd09-441a-b237-6d2fa4ce3db2 phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:84bcac92-807e-431c-b6a0-a26ee891ddc3 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:91f0f5d0-cc17-4233-a660-325bacb712a3 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:f74b31cf-cd36-431c-aac4-3aab96338abb phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:5a67ce4a-4a07-43c8-a4ae-c88445b5c3ca phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:52a430bc-0360-495c-b63c-33171c2d3115 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:0a056c3a-35a0-4bcf-9473-b4c7a3701411 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:bb1fb682-7431-44d5-95f7-f895120b91af phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d8fbb76c-cd55-4790-b4f8-9a4dff7ee1b3 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:c2e521b1-8f7a-4540-bdb0-fbe78794b8bc phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:5cc929d4-115f-4093-9c9f-7fdc8af79f84 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:29c76325-3dc9-4100-88f5-0b58daad7f7f phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:6a83c58c-55b6-42f8-b7f6-44103b5cd4d1 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:d87d1eec-910e-45b6-9591-8e3a1caa99ee phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:70ca867a-7bbb-4c7d-965a-8553c8cf554f phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:52494e1e-0094-4a0f-b027-a9f2c6806115 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:39ae87a9-cdf0-402c-889d-9d07b0ec90d7 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:0a625f27-9443-4631-bef7-0e80b3ee5d9e phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8c0ff09c-fb4d-4c8a-be07-0b6b17cc6e1e phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:c3c7f415-6efc-44ff-851c-024a4b1e518f phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:911fe998-2e87-4249-bdb6-fe507e3f3edd phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:31ff9521-c4d3-4036-8ddb-a45fe7fada6b phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000766 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:43cb5907-0aac-47c6-ab2b-7c6a35b43c7a phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:6ef6d7d1-e697-4295-9dc3-05a2775e06e8 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772368 uuid:69bc4612-b7e1-4616-a09a-3496e9031bed phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:494b34df-8dc0-4592-921e-c5d867afce41 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:79f3eb8b-466b-46be-b067-7250f31f936b phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:5f136290-7fdb-496d-a461-2e0a98952b16 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:02b2dd02-cee6-4f93-af04-185c4ea7d188 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:36ef1e86-99bd-446a-b9b5-195c7e6a4ca0 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4e3c36fc-1669-46e9-a4c3-c7002aacfb92 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:99dffaff-a1fc-4071-a531-1d05ea517c93 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:33768d5b-69f8-40c8-b93d-3ded4bc2922c phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:119d5a76-711a-4c00-87c5-b165dce9b3ab phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:21521199-b7f6-45df-91a5-f227e3323af8 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:d457408d-bec8-4b43-91b5-27f9305461e1 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0002647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:4253871a-8dcc-4632-bb37-fe0f43650560 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772368 uuid:3441441e-db11-4a4f-84cd-961b5395f647 phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:c1877cc6-e55d-4b54-a825-c35f220139cb phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772368 uuid:3e73a3f5-7fe3-429e-a727-12848e1047d6 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e6751ae8-8fec-4632-9611-119497494ac1 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ab027489-67de-471b-909d-876501c077ef phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:51f07ccf-6154-4fdf-9ad3-f78f57157704 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:450ca3c8-c815-4365-98cb-2c0bdca7199b phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:6c40599f-3c35-413b-9d73-abea54c7b348 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:de8fa8da-02d8-459d-b27e-84950ef157cc phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9bbf7eda-cce4-4031-8d57-96b86b152aed phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f7962c29-26ce-4dee-a383-766893f1d64b phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e0bc1f0b-366e-4ad5-beaf-d1164c708f12 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1549056a-7f5c-45b9-b8e2-038391aa382f phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e5d7f80b-afcc-4192-925d-74de4f823719 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e307767c-0d7b-4f42-9720-733444ee912c phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a7c2182d-8875-44ce-a62a-3cf2c439a4e6 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:575266d4-784d-4ded-a0fb-fd5dc5aff97d phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fdff3c87-19bc-4764-8106-1df07b485365 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:941e1e1f-55ae-47a5-b138-d599ab14634d phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4650276f-bedb-4bfa-95de-ab23bd970dc5 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:307e4491-44e6-49e3-b778-94932746b7b8 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b11e4827-1470-420c-9a7d-0fd898570878 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fb84218e-1e3c-407f-a3ed-2697645da9ab phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:89977591-3385-40d1-870a-ca92feae7efe phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:57dfdd60-9c9b-4d15-b0bf-9312d2b22899 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7985d084-12ae-4560-8bad-8d1e44b85453 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1da37553-58d1-40f5-934a-2e1e6e34517d phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b121cc45-8857-47eb-8f01-7eaa2f60e8c3 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:36a98e72-a0e6-4e41-ad39-23dd1679261d phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a4485b53-5c13-4a16-8692-b1207b70aefd phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:21972da9-537f-4636-a5ad-311c9671f022 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:21239919-0f4e-4c2b-a1b4-68f9711d7a48 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a804d4f2-513a-4da9-b617-a3e5b64d6e77 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f382577a-ba0b-41e5-9336-e5889dcdcda5 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:28776d5b-e6ee-4b6c-9959-b515f5f8e3cf phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4775535d-55ec-487a-bd2b-e1a120f9c9f1 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3b2efa62-5f50-4e2f-b0e0-1df78b3ebb3f phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:883ca474-2389-4537-b16b-344fb2286e91 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d44d540f-f5ba-4102-8d7b-96be783e5643 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fa707ed6-ee5a-49fa-b529-e539b9cc9ab6 phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e18e9dcc-5711-457f-bfd8-cfe71b43c21c phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:abf05542-3406-4c64-883a-a0e366e0a9dd phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0b0b7b81-7fff-407f-b76c-1eb214ea033b phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:0a84d9f3-4983-4d09-afc4-41930948789a phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:02a7520a-c81d-47bc-8cc5-28d8d69595bf phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22772371 uuid:3e2a2bf4-955f-400f-8f5b-c0f13b6fb77f phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:8bb8a0ec-c8cf-4694-96dc-5c128d104ef1 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:has_phenotype HP:0002107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:f2b2af39-ff66-4f5d-95a7-fa96502b2db0 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:has_phenotype HP:0002097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22772371 uuid:2d534226-a6f9-4462-a192-793adec92b7c phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:has_disease OMIM:614816 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:f6490759-f0d7-4235-b6be-0fc90a02a101 phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:has_gene HGNC:11768 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22772371 uuid:ffd5f3f8-f260-4bb2-991e-f11dc2ff0d65 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:629fc281-f3a7-4b7e-9d41-10cf808719b1 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:863457c4-7551-4e38-9c68-785cbf54fe37 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:38170495-554c-44f1-942a-e3f0ab61083f phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:7c47b14b-cf8d-4cfb-9871-c01b6e862333 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:ddca1918-dde3-4136-baec-84472379d004 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a4fb80c6-a780-4dd0-8728-35440fbab5d4 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:4e6592ee-6730-47ea-b8bc-7f937d13c17d phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:c14b77a4-795a-4a4d-9202-cd7246fdc179 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8dbf8e04-80e2-484a-8feb-d27dd3b348b0 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ebeb82f6-c264-4c62-b20f-339e6de6c3be phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:49e9bd3b-c99a-4d3a-b90f-06bcbd1800fd phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2a688630-ff8d-452e-817c-df5e2ac3b7e7 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c54e5a46-3ca0-421d-bb95-ff60563810c4 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:a4510353-7c6d-46dd-8c7c-4eeb29879040 phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:c5025612-1575-4ef6-b7d5-96cf00786777 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:25835445 uuid:acda3c21-95d8-4029-94e8-d6e8d1e4697b phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:abe7b77c-9c5b-46d7-8a16-f57a3bb46bf5 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:05a394fe-70f6-4181-b29a-681de9c13f40 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:eabe8e58-1131-4600-8597-8f0e0cca95ea phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:90a45ac9-65a2-4e42-b806-a85795ef6c0a phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:34bb1f59-49d3-44bc-9153-d14f32525f75 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f758cfe5-fc32-4bd3-a435-474d44f2de76 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:564a214d-8c0d-4558-b2d8-191fe2201280 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:79d21af3-9979-4088-a479-d7c5994219be phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5bf42707-a983-49f1-a374-8ef3c715fae5 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a6eebb53-6561-4d97-bf32-df0485d13c7d phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:56d8f28d-8783-49b3-979d-3a38f3675b2d phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4ca4c956-b571-4a69-9b02-bd769c29b9b8 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4755e32c-030e-49dd-8cd4-f65ec22642a5 phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:e70a7238-d0e0-444b-80c6-29e3bb422a64 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:23000508-1c7b-4db4-94c7-005e06201259 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:d47135bb-0066-429c-b99a-3a3d5fa8d2f8 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:99e3c31a-b945-4c76-965e-2675b74e0dd5 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9b37848b-10db-4b78-9b76-9d8943140fcb phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d86a1c6e-a9e8-4f5a-83b0-5177dcc4eb95 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:92ec67aa-0f2b-47bf-a666-5c1bd33896c8 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0a7ba7da-477c-44e1-b0bb-c42cfbf56ac0 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e43e1e0d-915e-49d8-80f9-6b1c0193aed9 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:85432e5c-ab2b-432e-93bd-7cea9c604867 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5fc1a9fb-69ef-45d9-8d38-1abe5ebab47a phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c4974af2-780f-46a5-854c-5800b6450302 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3979ee2f-21bb-4c26-a4b8-35b692e41869 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e45643e5-9df2-4117-a6ef-f99f87e83ce9 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c9d8c10a-d897-4060-9296-53305abe0ea1 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:492bfb3a-48a1-429f-8d85-921353fa6182 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f986b701-dee4-4092-9b06-42b070a52944 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c6a0a743-1a0b-4a22-b96c-1aed8319c4bb phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:54511b09-81f3-48c4-a83d-3326bcf9fcae phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e1b14ffc-e65f-4e5e-bc51-99e26980a3f4 phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ee386c01-e8a8-4240-b8c6-6f368d1701ad phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:7e0abd3a-30d7-4234-ba67-b8899655924b phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:b7272168-0bc2-4ef4-950e-4a0569bcb244 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:09bfcb0b-2d12-4c92-be44-bdb590dc983b phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6aa80866-e04e-43a5-be03-c91ec97178c5 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:1b005d0f-2fb9-49dc-a57b-55aa43832803 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7fb4aefe-41bf-49d9-a651-8790727093cc phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e0ad1a5a-6014-4e27-973c-3d76cb9f5125 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fe4157a9-c1e7-49ee-a42e-00a6dff5f9bb phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c5065162-3711-4d0b-8da7-9c33250a9cfd phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3a573e2b-b1c8-4053-9215-312efbfc6cb5 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b6e58b2f-1414-447b-ac3b-48db6c3a7555 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:40c1f431-694d-49aa-bd48-083fd0a15ed4 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:31150db7-dae1-4f50-8b53-462f2b6d3ee2 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5e7b8ad6-79ef-4624-bbd2-efcc1cba017e phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0634db92-7a69-4d14-bb3d-46c8ea7a86ef phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:405ad46b-32d2-4c59-b726-b80a82ce4518 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ecb1b20d-af5c-4613-8356-98aeb649ff70 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8d4f249f-986b-472e-923d-c9aa8527ffc7 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:58167dda-2361-457e-9f58-73743fd6ee46 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:abd2aed5-d460-434f-8bd5-3b593685546b phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9b7bd6b3-f8fd-4dc6-98b8-3b1ac184df6b phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cd6b7277-ba16-4842-9516-54587522d673 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bc9722c2-334c-449c-a830-93d054efc1c9 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:31da6b62-ef8c-4ef0-bef1-78d3ccdd9253 phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:048040b0-cbdc-4930-bf3f-ef6d28e8f4df phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:5d0adb38-83c1-486d-a4d8-e817ac842f7f phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6096dc2f-796d-4bf7-af7b-3c145497ecc5 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a9cc6c78-8e0b-46d2-b519-1a98ad87aabb phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:06c0756e-5668-4a8e-82b7-5928a0d3c43c phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:87b29db7-c7a6-4e34-9e87-5fd9d68f09b1 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0d7351f5-1ab0-4354-94d5-5b18d08a4de5 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ad6b892a-cf53-4c93-bad8-5266cc535561 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0e422d70-cf32-42d5-8b1c-b92dc2cc67ea phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0ef82672-e998-4c7f-b53c-35f3b4245929 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8c499d0a-37ec-40b3-8152-a4cac0101d95 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bd4682ce-2ceb-4e2d-87a6-3240449621eb phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2f5b9e72-907f-4376-b205-89021a30a1bd phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e4c8f304-5b4e-41ae-a074-81aa9a4c9463 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ca1ec7de-6db1-4af0-b2b2-30bfa28a0346 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ac19e8c7-b4ef-4f2c-b38c-033c25013f29 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8e9e7031-7763-488b-9933-60f0e5362c8a phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7899b02d-4196-4e6a-9961-b53ac2b16fa3 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:60c88b87-d2a1-4edf-95e3-7f6f05c6dc72 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ebbb133f-6946-47e4-b58c-388f8e3e42bc phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b5a1a9f6-8c32-4376-8557-8b3064b5ca20 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:2f6ed120-c389-43a8-af1f-fba7f5bf1181 phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4be07d9a-c406-41e5-adfe-39c2d0410c63 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:178576f1-977d-4642-a3eb-f6b9e0726431 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:bbb4846e-a5bb-42df-ae47-ae8aac5c598b phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6a48d7ad-73d2-4e16-8ca4-078d95d88c2d phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:dcaa064e-4b80-4548-a87b-4588ae62099a phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5351e32b-fcc5-48b2-92de-0d9b9e9547e4 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0726159d-0cc4-410c-b01d-9ef6801fc109 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c826acbb-bf5c-4d76-809d-784ecfdc5432 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:50e54b25-b789-43da-9b40-321c86922937 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:438e49fb-2785-4f33-b80d-16075025ced6 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:356db469-87d3-4194-b3e8-7b8a2b8ba784 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fe66e357-f815-4949-a23e-580713d27070 phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:01b116ac-edbe-4195-8a55-f819c10da29e phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:54f5f2c5-e984-4c2f-8bde-0b7d07a4501f phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8cfbaf80-1b83-45c1-b735-ac0846f15ff4 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:281d9413-42dc-4e0e-8844-1b5354e156b0 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d50a0984-fd7b-45b5-8756-209266a3b0ad phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8bcd0839-5e37-4cca-8d5a-094c4ea574b8 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2b7365be-8c8f-435f-983c-faef595fb791 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a2a2a2dd-8de5-47d6-90db-b4f851072da9 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3fc8aeee-33db-4c85-bd5e-84e0f5d55a97 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:61a8e13f-6ae3-4bef-acc7-80106d018f85 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2acdda17-6b09-474c-a01b-7afa69a7f42e phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b3713858-c93b-4b3f-9390-3efcd56f5d93 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c7233cb4-8b38-4c2d-a8b4-19f4378aeee6 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b6aaa0ff-4c4b-4607-9716-0c6e8e7901bf phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9145aac0-171f-4d42-9211-d9e3e65dc526 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1efbf17f-19b6-45be-8b9b-0e4f0259fa5b phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_phenotype HP:0031607 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3965d0ae-5d87-40ad-b0cc-86ca9ee00a2a phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:599c1bb9-40a9-4ace-827d-b5f1a30a6fb7 phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:ad991c22-dabc-494a-ad92-50c4fe7afd78 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:d6e92dd9-441f-44df-a8fa-0a2536ea1b6e phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:5a77f228-6e40-4f7d-9833-da697a0066e2 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:1e4ad0d3-0a5b-4928-afba-13b580dd43e0 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fd0d214a-65b9-4569-a627-19b356e23bc1 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b4c699c7-e450-4fa7-a88d-970610bb3d1d phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:78771104-e9d8-4c34-8859-8a1f0bdc3a0c phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4ccba91f-2d26-4d3b-b26f-b788bb30af79 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:90144ef9-7a94-4bec-a7d8-a294d613479d phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e87c49bd-3750-432d-b9b6-c2ffcec70f33 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cbb0800e-0862-4652-aad3-06d4e1dbcd13 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3ffa61ac-12d9-4a71-8f4e-88ec2e962f30 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4d2e30e7-e79c-4a31-b5dd-33587e7b0bc5 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:26528ed7-5b61-4617-8dd3-9aee6f972060 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f0e3ddba-325e-4ef8-8add-4a320b6877a0 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7b23c0cf-d228-4c82-a7e0-792e52cda48f phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1e20fca0-901f-46a7-8260-780d753437b6 phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:a22cd5c6-b89c-4d22-816b-38adedc5b02f phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:82dbcdfe-96b0-48a3-ab4b-9933af21eeee phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:b1c483c9-b8f3-48f6-a4ba-3010b8c9a1c5 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:2b922aff-1867-4c23-83b1-7191ecb76cbf phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:789c50e6-af06-4fb3-90ab-e6013073f3cf phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e47ec4cd-c7ac-4089-bf10-a195e2c0fadf phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:17ec1b72-8836-404b-98d0-289049fe2a22 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a97513a5-77a2-4202-9c91-885720e8cb14 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:618fa3cc-19b6-4ece-b548-eb5060d170a8 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:1fc43ccf-ac53-44ec-883f-b37e91b9b84e phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:ac37d4bc-ab0d-4bdf-b960-1974f666bf89 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:60e6b866-6691-4d5e-939f-1abd4cd93189 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:93905854-4504-4939-bccf-9b2c982a7893 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7b690316-84de-444c-9a04-4642fa75f345 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:34633a33-3755-4c84-8cff-5b05a4881734 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2ebd5d3f-e58d-4473-9f45-54b1e8ad9ffa phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ce2e9cfa-b43f-4b9c-9553-a68bd58497c6 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4c9c1536-a417-485d-820f-7cf420e36bcb phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7184b98c-b65e-4ef5-a965-97920d253ebc phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fad09bca-dc5b-4e28-a2b3-42ae0f621ca2 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5fa6eac1-d61d-4500-9cfd-218200e13232 phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:08d98fb1-b1e6-47f7-98d5-1ff2ae6c6dba phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:c6dc9331-8767-4462-990b-43cba328893b phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6331625a-de95-4337-8dce-92ec5b14cc80 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:712c56ef-3191-4d38-812a-c63c17d37393 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:263bd45c-e097-4eba-9187-87748d8cb55d phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:70fa3ff7-63dd-42ae-a620-ad29b510d70e phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:936209b6-1b44-40f5-a177-f5f51ad97d12 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:768ecefa-046f-4e65-af28-c02be52f34ab phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ef553e1d-bf9f-4ac7-8c03-d9f1b2f18b84 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9a0d2df0-33eb-465b-8ea2-1307f9e17eb0 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:824ed2d9-1990-41a1-9f18-7f0cb02276c8 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7b6b2d66-f950-4fdf-882c-ec9d0a4f9379 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3ea88239-7e0b-4f79-9d8f-be2e0312f0c5 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:94e97abf-1390-469c-9d1f-e2c9e9b84527 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6f48b27b-2a10-436f-a088-c4cf758462e0 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4c463920-4653-451a-aa1b-ead6327f9799 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_phenotype HP:0031607 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e82357a8-c014-43b2-8f97-8a6ae044544c phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:492b63bc-f059-4d4a-90fc-1740318012e5 phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:25ca860f-e75e-4830-8c91-316ae2e970a9 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6f80b114-4577-4e7d-ae0a-90a6e2302a12 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:ab9bdb14-8377-43f3-92c3-efba647aba52 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:0b92b55b-4a7c-48ba-b28d-171442ae263b phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:03af02ef-c3d5-424e-9389-29ca85a378d8 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:56510d09-850f-4f96-9c4a-238d0f025465 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6f93dbe1-e9e1-4f28-a5c5-8cb776ff3190 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7ce5d416-d99c-4048-a4ef-f0fc0dd5cc1a phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:62f64737-5ca0-4b19-93ca-68d2ebca835a phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:917da6f8-1339-4d5d-b298-e8554fe30b94 phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4eb6d7a3-8455-4c5b-a2fe-09bf2200d1da phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P70Y infores:phenopacket-store PMID:25835445 uuid:b845051b-e1dc-4469-a4c6-ac8fda16d470 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:25835445 uuid:55978207-66da-42f1-90d6-434eb451aee9 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:449b0f46-b9fe-4b8c-91d5-afef70b7ddd0 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:85319912-1f59-4538-bd89-cda86933e3a7 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:30c0e913-1309-4b22-a005-8d3a204d3d07 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ca232368-331b-42c3-886a-b565e6fb07e7 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:36f4e093-0aea-48cf-b616-85be2d1de940 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ccb114fb-9ff3-4d51-91ca-c67cb1d0fa9c phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2d3b63f1-3e86-4aef-b867-98a414b822c1 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:276fa130-4d89-4db8-8816-fc749e690d79 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fd5b1281-5210-44f0-b47c-66270dff5728 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:ca5444de-4976-4e3f-bf7e-9d5a6fc13fc8 phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:38d63e5b-e271-4c00-85a4-5f954658ce54 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6938759e-fd9c-4867-bbf5-9b456694a117 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a00d6020-aa92-4eb4-813e-05df4979120a phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e94d09a0-ca9c-48e0-9d71-e6cb80441022 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9d6350b3-a7f9-4f50-94bf-77da420ca11a phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6f05d14c-76ab-4645-a4ae-2e41385b693f phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c845e8a1-ebe8-4531-868a-701b7487bf03 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f3202c02-5405-41c6-9fc9-a4bc75c6759e phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4c95ea65-a42f-4aaf-8c10-aabbbeda340c phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e94705ea-1fdc-49c4-af17-1f94e777110b phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:559d207b-5c08-43bc-8953-aae1b3a553fa phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:13613174-fc4e-44a2-a555-a8303e9e4b9e phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2a502e7f-fded-4cde-af4c-304a34958caa phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4758c9fb-04e5-442d-a59f-d90fc0287a7f phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b3a1ee8d-ba8e-45ea-823a-210dd805607c phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e0c8f8b2-a1bb-4cd5-8cc4-31a6715c9e5f phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2598e4ad-07fd-4539-a1db-09fa800ba700 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a6fac907-d5b5-4391-845a-8fb96a67e6bf phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5e0e1716-e37d-4d0a-9566-b765cccf340c phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:996aa064-1744-48db-b9cf-55e8474e9947 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0c1c4274-1542-4392-b359-717163b9a535 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:32a85a6b-aaaa-4d2c-8eae-72f958b5af91 phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:456377f0-4527-4877-a320-6ae3b5e1392e phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:25835445 uuid:87ada966-cab5-44f5-9bd4-fa4bd53290ff phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:25835445 uuid:1526343f-f050-4b64-be79-3a742e10ed7c phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:cf4b7c96-5c3f-48a0-9b79-17cbcf734310 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:60128089-44ca-4105-abbb-7d49f57d5c51 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:52d3a01f-a322-4efe-a29b-426348714874 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:dc566566-5115-40c9-83dd-fc21bef66d9e phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0605786c-bd32-45a7-ae5e-886e4fc5c69a phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5e9796fe-e3e0-4c0d-9512-ec12598f157d phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a93b42cb-4418-4571-9e11-26c337544d31 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:45ae4504-ac98-47da-881b-80006638cb5e phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:215e5443-c022-44f6-af5b-5be20ca43604 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:03e89311-5ddd-4381-982a-31b3ca3b50f7 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:879eb9ba-c4e9-4926-be57-9dd0ebb5aee5 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8f0cb51c-0a4c-4515-93f3-4e7eef444683 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9258940a-02af-4fea-b142-54f6260a79ba phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:79ca552c-5b75-4a76-8f4a-467ecbb67231 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:3b5b0991-4744-422e-80c0-057866076258 phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:80de847b-7bd7-47fe-a28b-51fcd8342178 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:1da95248-7367-4cea-86b1-572f85fe3116 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:56ca9953-7457-4b03-a189-d7f0fe1e705a phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a7067887-d184-409a-95f4-0cc7da973c50 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:4da920b6-0265-48f7-bb3b-f7a3d8305695 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:45d4058f-c8fd-49c6-8a37-a048ee4cfcd9 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9d652265-ab64-4c0e-a743-a1e3eaea979e phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f46fcac8-d8fc-4fc3-949e-149e3804d080 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3fbf3ceb-917f-4f46-9e64-399c8ae8c841 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:47df0977-2c71-408b-914e-602d8b6d5ba6 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fcaf0d79-3e85-495d-a934-efacef29545d phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:f079544c-1e00-4df3-b349-c1fb70acfde5 phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:cba6fea7-8df9-4090-8492-0a38df235ed6 phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:3aa9118f-3223-4b20-a161-b0121810998f phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:68d819a4-ded1-494e-a39a-33b2f71570ed phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:17cef850-4766-43f4-b415-b176278aa72d phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6c092ab2-7d1e-4678-97b2-7dd33147f4ab phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ca5a27fc-cf86-4ef8-b6d0-d2624efc8811 phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5f65906c-3750-4433-bbd9-e549755077dd phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6e16d8d4-b3a3-4111-885a-06997a529305 phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7652df23-c2f6-461c-ad3f-3bf214ca1622 phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:28ce5ec1-65ff-4443-ade2-aa29e3fc9d57 phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:21258bed-a4b5-4927-9ad6-c72096d725aa phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6afac4de-ab18-4902-aad2-8bc1c8e91dbf phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2828fa54-cc93-4c9b-bff0-6783b0120d40 phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:81301b2d-a2f2-4f17-a8b7-6e78e64b14fe phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:2b1ffcd8-c193-44b2-8bf1-838550fe3a4e phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:bb50d8fb-2362-4f33-9fdc-7d863dc82476 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:837fb62e-205a-4f8a-8ac8-bbc509dcbc22 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f3472395-df1e-4a86-8243-4b05fce467ff phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5f05f82f-b09a-4307-bee0-8f79b4368a08 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fa8abde3-de02-47db-beb8-a0df0791b10b phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6b4e68ab-60d6-4d43-985a-69bbfb5eb814 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7b527cd0-64ba-479b-b475-7cedf0de6345 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:89cfe85b-1768-4c5f-b23b-03f3a70855de phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6dd6a8ba-ed30-4067-bbf8-5370949938e6 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1048037c-4c50-49ff-8d55-f77c2e944c14 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:56a94ae4-f4af-457e-bf1b-646ea78eaac2 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3c541d34-5384-45f6-9ffc-1f121a8d6f87 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0bb5cbb3-9974-4d09-bf2f-b027e6052850 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:64565900-5648-49e1-8e21-a09f568a15e1 phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3b952ef1-8ed8-43e4-8051-00af93b5d49e phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4f3caab1-9f96-4ec6-9281-87fec581578a phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:c5e943a4-e3ad-4be0-8a34-bdfa86b31c8a phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:6ce3b0da-e8a5-4231-935c-361678a52598 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:b4632d5c-c7ee-42de-b52c-5ea508d77578 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:baf46bd8-1a72-41c0-bfeb-31f5dd8052c8 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8959d6a8-0613-4809-8c7d-a1fcf361cd84 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5841c2ff-fd30-4b63-800e-2a7dc835b5e7 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:51da98bc-5e34-448a-bc6f-77c6ea59e4bf phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ccfe267c-5228-4f4c-b617-b24bfe014733 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e13248c4-6d5a-4c47-8c08-89c8cb4b423d phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b23e46f5-30d9-4555-87e3-6fe4530a0fde phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6e1f92c5-1251-443b-82b6-584377e52b1d phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5765812b-0a47-4452-98c9-0c36f17910e8 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9e1e6a88-7240-4b24-84f1-456154b0e4ad phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:dc2133f0-329c-40bf-a76e-d68336509b65 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fb5784f3-9794-4048-925a-561cfcedb098 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ecac1a1e-3206-4203-ad9f-511a2c749023 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_phenotype HP:0031607 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:006cf75f-ee89-44a2-9124-7e9900a65242 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4f1db9a5-dcbe-4813-a54a-b978c29bd0a8 phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:cf440f24-d737-4781-8870-7764afcde270 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:25835445 uuid:c31334c6-428f-490d-8f0e-1a5c8eec8e1f phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fefda5c6-fcd3-4b4b-88f6-88aac2fafb81 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2dad8bc0-ce82-4762-b4f4-3a28fc708442 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ffd12813-ae92-4886-87bc-2085202c6bca phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4e47d452-ca43-42a9-80d4-9e4241f59906 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:44f16ca7-6fe6-4bda-a551-ca5f21265358 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:24afa7bc-baaa-49d3-8d67-86fa15919ded phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:379cec57-82ae-459b-8aae-287844dcefa5 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:42510ad6-d3a7-4b29-8089-f0f2e4f61281 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:34189f7d-480a-4b53-a1b0-7c34ee2a5898 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cef64208-7fdc-465e-8260-3dd44cef2511 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:63b92f94-5c63-4cee-8fcc-6521ed12cf4f phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8c53583e-1846-46d5-be22-447747caf76f phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:bbb251cd-c545-40b6-9830-7c2869651f64 phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:19eefcaa-ec6f-40c1-a5c7-78bab01c28e3 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:f1d4b49f-6001-4f02-94b7-9b78f069c12f phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:0ed29cce-f0db-4b2c-afaf-8be23b0374b0 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e091dbd0-56bf-429a-ab23-ac36b8eace4d phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:5377ea68-b370-460a-ab2c-e54d9b67cc11 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:18a189dc-5385-4499-a58c-39ccc077e5e3 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:c3fefe19-095c-494b-8c6f-e1216b083b44 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:75c0a381-fb9b-4c00-b8fb-74e3a982a1a5 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:14c74703-9426-430a-b7e4-008fe2e4cc81 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:dbf73f30-fc46-450a-be3d-62a0914f1bb8 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:217299a1-e755-4f79-99aa-3c27d8f739ef phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1bfe5075-13da-463f-9100-8245f7c90831 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:71159233-39e9-4c5b-b8ac-95c29e46f83a phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:27f7940f-4ec0-4b91-b6b4-49487320a575 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7bf61900-f359-42a8-9d44-1efd55c805f9 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6e917c28-c52b-4fd4-9fcb-047f6a53fdf0 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ce8343d1-c9f6-4e20-bf23-469f9b345d4e phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:66cabeb4-90ee-4b7d-ab99-6064cd1515d4 phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:23ab83c0-8277-4730-be2b-bfec22a89997 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:7e848dc3-67be-468a-9560-0e3b8dc1096d phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:9d8c9af1-46e8-4b4b-b01a-1be360d1af9e phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:99e00a80-bed0-4ada-a052-924443ba973d phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a056ed07-de3f-476e-8da3-1bb8460980d5 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:289ffd5b-4447-4b7d-bdab-93e8c7e94bfe phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:026dcab0-0a70-4d8d-b48f-a37a789173cc phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:57e5c787-5ace-4ff7-9ad8-c56c3c3d2b78 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:efaa0f82-9991-449c-9b00-4139cf65fad4 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:04f7d78f-be1c-4324-b892-fd63dd3a0273 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d9f4f763-8d5d-4c38-86d0-6ecd8985fc15 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:92b74d60-507e-43b3-b25e-502e2a7e2622 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3c046cab-2305-4c2b-b66c-0d2a6c5a1e0c phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a641cc60-cbcb-4488-b9f6-76481a4ba4dd phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9b6cde83-9b39-4091-8fcf-a574290958de phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5f36c7b9-fdf1-4254-a467-b316bf1e2b53 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c375ec6e-ab5b-4f7f-910d-8219da944550 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a9a2cb22-8f16-41f7-9ade-057d481b48fe phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:98fc9598-2bde-404d-81ec-af157e2daa5d phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:921c89cf-0a98-4f69-a4e9-c31d9dc38bb7 phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a7adae27-6e3a-44fe-b962-d941bd608ecb phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:9e2c7a34-4465-43de-8333-72cb26dfdd1a phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:f319911a-dcf6-4178-9cac-c780d1f41c57 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a164a94c-4eaa-4952-9560-12fc4d2a95ef phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:3b22369d-444a-4e01-8491-14c7adfe5529 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e59c412b-94cd-4146-abd6-0bfed859a514 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:1acd6498-0101-4ab5-99fe-51cd9c2057fa phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f3e0cdf7-e15f-4380-804c-523369ddb088 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ad763dc6-9fcd-4279-9307-5a81233a7e13 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bc984294-1103-4304-85bf-693c5fb7ee7e phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6aa70e69-d8d3-4dd0-9377-887643fc59a2 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8fea5b9f-cfb5-49c9-b4c8-bc05570e6130 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:03f31bc0-0c8f-48d5-a761-8551901d067b phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:99f6efcc-e24b-4f64-9761-e8e1674d53d9 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5a9a8b2a-39c9-481d-93c8-2c398aee7982 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ce02e604-8514-4886-a375-9908117660d8 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7ad7eac0-807b-4444-bee2-3b3d6ecedac6 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8ad4da6c-b6e4-422d-84d0-ecb1e7984a27 phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:44b57dc6-d679-484e-a8f1-8417fe5555be phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:abe0c039-cd63-47ed-a874-03336950222e phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:1481a0d5-7393-43c5-87ba-8a929eca171a phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:79d5cfcf-efeb-4483-a872-10e07a1d9084 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P80Y infores:phenopacket-store PMID:25835445 uuid:6cf84c69-f0c2-489a-89af-ec4de3c07151 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:cb649f7b-094a-42d9-a4cd-4a769e9920e7 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:198faaa0-9011-4867-8311-814e047940a4 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a353338a-0584-49d9-8928-9ef7ada13ff6 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:556042a4-bfd0-4986-a1b9-7c7535fc1469 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9d947032-f106-47ee-bb78-21119d4097fd phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:06706921-4c93-4f93-b7ba-bd8a2f6da528 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:f2f09603-0600-4fab-af2a-f66a01f35bb9 phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:6d2056f3-a1dc-4b43-a31d-906cd3d4e757 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:25835445 uuid:03fdd9db-ca10-4774-b7cc-aa17fb80d88c phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:df6929f4-0806-4160-b692-5ca95e383757 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:8208ed3b-f08e-42ca-9d99-f4f0b9ffcf85 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:884b9003-e310-4c10-b601-fbc719dcc292 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4f95804b-f5b3-4177-8a72-5d16b956ef6d phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:46a61c2f-af7d-412a-b4cc-964428d29e96 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:655df4a0-352c-4e1f-b7b9-d42bbaa47b8e phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:97042d3e-53f5-4a48-ab09-b313e522ef5e phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cc18c3e7-e11d-46d0-892a-eced9b231a24 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:82c263f6-15ea-49ae-85ed-091fc8edc849 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5bf7ac99-5d73-46ed-acdf-b6aa420fa779 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f23ba415-2163-48f1-8d05-bb41b2ba6444 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cdd68ee5-0838-4f8c-895c-7833d2edfbc1 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:22ff084c-c719-4141-be1e-4b181e511fc3 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e54affa8-8a6a-4955-a7ce-cc6c8d1d7b65 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_phenotype HP:0031607 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:572d5342-089f-445a-829a-45e821b37298 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:ad69dde1-d920-45a4-880d-41f4444e93d9 phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:8f7b6fef-5718-4a09-8fad-71e2faaf4ddd phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:d2448a59-6bd1-42a4-9180-bc052795a05e phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:2c378b63-7e21-41ec-8ce5-a769da9a4e4f phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:8a09ceed-a956-4360-9095-441dc93d22b1 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:ce39e3ea-fb6b-491f-a691-5d9c76db1eb2 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:02771d0d-40a0-4983-a00e-aa9ecbcc88eb phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:9ac1d473-4bd4-463b-b495-becced11abec phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ec811655-9d20-4de9-8ea5-b30667e346bc phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9ebda72e-f2c3-4db6-a597-b62a38e90142 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:490e1ce0-2ffb-46e0-afae-e7873b582fa6 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4ff993aa-8268-40d5-82be-e1e092228561 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:aab7b330-f0c8-453b-9f83-1d6d88bf1506 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2b2b4552-c736-4bbb-b157-50d0ccce4846 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:57ba617c-9640-4806-b6ab-3c467a27eaeb phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:11a508bd-0e2b-433e-b029-28a1f9f56481 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:382854fb-836c-45c9-bbf1-8f697cc0cc58 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:12b4ec0e-8add-4191-afa8-fe750cb98c13 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2d1dfb2f-fbba-4f6e-9268-1f71b4259c21 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:46ec108c-859c-4343-ac0f-3921bb8e0d2c phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4db7ce86-99df-4f19-8d08-7def38da1cfb phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b32e37f4-c2f9-43cd-8bc6-00624b958785 phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5b309832-609e-4ee6-ab72-f3ac725cb07e phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:46dab537-3159-45ed-a187-2f2a67a4bfbd phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:71886709-ac4d-409c-baf5-549fd649e4c4 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:25835445 uuid:d4bc6f96-f15b-4112-9a55-4b3ddff23ef0 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:3731c7a1-b04d-45d3-9c46-b4dbdaf163f7 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:633e7bed-b991-4b31-a2b2-ec187bb63622 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:954b9c8d-aa8b-40f6-988d-9a40ba5ba894 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:027515cc-2619-43b1-ac02-a52be3c2a4b8 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b9be9d58-fdf6-4e5e-97a1-21cbdffdbd03 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4f95e562-3fa2-4a91-93c7-9f8742671092 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2e78b275-ebc2-4569-92b4-67fd62c6fc40 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:00de560a-8193-4d81-acab-4a06e0405c90 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:27864bb1-af84-425f-a206-239cdf21db38 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:042b1116-ef80-497f-881d-42ee8eae8632 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7ad0fed1-d1cc-4981-806d-a8f69dc9ba36 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f82c11a6-853e-4410-9a07-a3f7ae90e2de phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:13a24d4f-b9bd-4487-bd46-5fb365ccbb51 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3be7238e-adb3-4638-b18a-fc0ed8361829 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:3878aa3d-ea44-46bd-9dab-2367156ad163 phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:3e1b0b8e-914a-4f95-927a-b60215c0d09c phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:93d7d7b6-a49f-42a5-b323-2f8fbd2c57d6 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:71382942-0ed3-4769-85a2-a5af0b70d02f phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:0f30bf5e-abd0-48cd-a73c-d9970bc7bc4e phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:c32a7703-ab66-4927-a40d-4b214ecf29d5 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:b2038a37-8b10-49ce-9e5e-4064d31fc516 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:fbdb8a7a-d51d-441a-902f-ea314b4d36b9 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:563e4d21-3efa-4ab9-87b6-d1617d803ab8 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:9fa6991e-271a-4994-bb51-337c862a06e9 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:aeae5647-76cd-4d18-8a09-97e3e010b61e phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:20e4b1df-a29b-4bab-aa3b-6c04618d1c90 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:96e99cb5-dce8-412d-8fc9-a5536b30d7f5 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:077949d9-c4fb-4036-9b46-1bae16c12bc6 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b04fb896-0d0a-490a-b5aa-83089f9aa393 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4c89377c-1b27-4972-9bc1-9d4ea00d836b phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:990dd4df-d686-4650-9c62-887d34469cc0 phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:57d3f857-3054-4369-ba25-775226386b9a phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:b42f8a94-f176-4310-881b-f4fc91ab4a28 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:07af44d6-a343-4782-9489-304796b6f228 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:53334ff0-1c09-4c35-b2d7-db90921ca5b7 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:83231e8f-8fb4-4e34-8f44-65e5adafd5f3 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a31cd7b4-8636-47b4-9155-bfc3d59bf1ea phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:351f19bd-0896-40fc-a108-3f53b048ab60 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2a2386f0-450d-4056-86ce-77d2925aad05 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3bf5101d-9921-44ea-bc69-6d0477b70bad phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1b789bff-c123-4c1e-90c3-1795157bf837 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:81c431ce-70fc-4fea-9545-965f73d59a93 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c9225eb8-adce-4002-ad16-b030d16fe49d phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2b893e02-3c42-4f35-8978-ff44381779a7 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:81d4ffce-7b9a-4f36-8b01-2f57e8fdc05e phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9e955c72-1793-439c-8f03-060636385e3a phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a791ca01-e88c-40ca-9b46-5d7126016248 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:099d0206-eaae-4b82-8716-1944bd1060ce phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:0fc7734c-54ba-4777-85a8-a1a61bc30922 phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:f7052e6f-cd65-4c15-a547-3d6a8f08aa90 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:25835445 uuid:1ef09f14-d101-4c7d-8f99-179fd6ede967 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:4b5bbe59-b432-42ef-971f-5690a0c2d42c phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e06ff67e-1dc8-4dea-9f3b-dc4cdc546101 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:594007a9-0339-4db5-bc0d-f596c40bf2f0 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ec5e481f-f137-4f7e-b9ed-ad108242795c phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7c26c88e-94a4-4389-8689-35c178085298 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3c42667a-cd42-4d07-b6e4-9f229525d608 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e6479742-2290-4e58-87f3-adaec885b25e phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:88eec289-4eb1-4489-803e-3ea0372f01bf phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0703e696-7738-4827-8c69-fb5a3c796317 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9cdce8eb-ff46-4167-995e-04eb8b1fbd4d phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7a81aaca-18da-419e-a129-991255d612be phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0d4c48bd-0790-4bfd-bd36-c9e1133e49e6 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:787d4c34-38b7-43fc-957b-de0ad8036875 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:d553d85a-f612-49f8-a0ae-141eff4d7ab5 phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4a4e11fb-936b-4430-a424-04157e7335c9 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P59Y infores:phenopacket-store PMID:25835445 uuid:00cd36bf-ec3e-4a4e-8dbd-028a2d91eb56 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:2714dda2-e170-4320-af2b-d5b7e63fb664 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:112df542-ef90-4f1d-823f-d541c795ae60 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:f1aa0a44-2305-4be5-b49c-f5fac6fdfba7 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a9eb0586-db88-460d-a551-cee90304596e phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1e1ff3b9-acc3-431c-9085-f52d31ad9cbf phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7ff59c32-cfe5-45f0-b099-84ba2ab4e585 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ddea707e-92c0-4224-933b-2500c62a4044 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a80cf871-e9d9-46a1-9de0-7009b84e17d9 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9308cff4-a711-47bc-b7ad-a76cd3b17668 phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:ee4bf6f5-f391-4d3e-8a14-49bdb8d8280c phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:e09e482c-d6f2-4736-af0b-f0e06e0b6296 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:4000067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:25835445 uuid:91739dc2-a86e-4fda-b092-655e5dfe8a8e phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:ecc09ff3-67e7-45cb-8396-e6bcb9868e86 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:56e62e04-0fe5-4023-8ccc-b43e030dced6 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:dafd200e-51cb-4cc1-a8d9-afce4243203f phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:04659946-4b8e-4464-adbf-cf02bf9a9674 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:5bb66b98-c5d0-4fdf-bb65-566a07b1c4d2 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cdd4629d-c16a-4083-af0d-8b8f4c33f8ff phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5eaad583-b2b6-4eb3-b90a-c51f5fb372d4 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:292969eb-5571-4d6c-832a-eddc67a96c7d phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:07469447-acc2-426b-a0c0-b1d94af70fe5 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:16cd177d-86c0-48b8-978e-1b13bd8baf61 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:11474940-bbfa-4240-9900-f8d0f59ff0da phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:69b74ca3-8cd1-4be9-aa01-c930ab0fa602 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:57a5694f-aa16-42db-9608-eba517a2516a phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0eca1a35-30ae-4c05-b21b-8de6a4168395 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:edffa8a6-0917-46f2-b31d-337554204c42 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9638d1a6-9823-48a2-a0d4-6ecf66530cfb phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e7f4836b-f009-4b8a-b475-449aeec721c9 phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:7e835f8e-224d-434f-8867-4554ffa9c22a phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:a3511245-88db-4170-a580-8b6b01c08e7a phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:25835445 uuid:45f269e3-ac8a-4b22-8a51-e12cae9e6e30 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:25835445 uuid:42597420-24c9-480d-bd12-2acc16550426 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:25835445 uuid:19efa767-087c-45da-960e-43e20b7def19 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:8c14dde1-7b5a-40d3-8947-534334067bcc phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e936adb6-9dfc-4817-a586-5ebbab6d8845 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e2a8e058-76d8-4570-a705-e5758c87623b phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:46d06dfb-0f99-4c17-a236-7880e6e9ee17 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:4044e1a2-da47-4af1-9a54-5f1c6d0e0a95 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:7583d0a5-ff98-4abe-a0a7-4e2f1d00bf7b phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a15033e9-f6e0-4f76-a8b6-7b456d440cb9 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:929d2de1-0bb1-4e95-9252-6ac16b5f3d76 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bf3a9b8e-1c16-4031-bbcb-0567c8482981 phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:ed0b5bd9-f83f-4e16-b96a-a7b487c6d08f phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:34318203-ec56-457b-9bfd-4d8972a56106 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:99d804be-15c4-4bea-a2e9-648f7b76a5a0 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a2ea047f-1fa4-4851-b24a-4a5aae26fdf5 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:15bf3b65-e535-4969-81b4-4a42a23213ba phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:463cddf5-24de-4c26-85c4-021ab29fa95a phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:3065f54d-d76c-4a06-8db3-e518dd2bf762 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:118b8ab8-c8b5-485d-8a84-db76a1939d3c phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:06d454f4-9bcc-4ad1-af95-8a6fad51c9ad phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:75ad6fa6-4c27-4f02-92b6-d0b708686864 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:73d1fbd3-991c-4769-9794-d938ae79c06f phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ddb09ae5-73c3-4748-894c-11810ad6ee3f phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4bd8e179-100c-42f4-b8a9-a90c130ae676 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6da8f3bf-9702-4d71-8ab6-ce0cca864b54 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5cdb6e29-499d-410a-b40b-bbaf6fdf848e phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d15d2c00-3cc6-4ebd-b169-07b4417ff892 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d102236d-e7e6-4524-98c7-315519ad40f3 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4f1e5014-add4-4b40-b595-24bd2b3b9e06 phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:a2a98a84-d4be-4170-b431-eb6ea4f9b1ad phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:0cddb352-25cf-46bf-a6c6-819bfd1cbd44 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:0c470dd3-295c-483c-816b-ed2fb5293c7d phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:7671f3ce-302a-43df-b3db-699ae8883f59 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:01c65353-7dba-4429-b15a-a338a1a00b7a phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2ae06a51-797d-4714-b859-7681d5a1404c phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:70145e58-cbf2-4f13-baab-392527730250 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:20d8368a-31ef-475f-8662-f41163813e7a phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a7addb6e-53d6-4fed-ad89-8ceac62475d0 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:984b770c-8100-4e38-815a-c795cd8cb82b phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bc7c7173-363b-40f0-ad12-bfccaa5df6fe phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9375da30-b513-41ca-866b-26d6257b6060 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:acef4f90-6431-442e-aba2-53ab6bc3256e phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:14d466b9-3ac9-4001-8cc2-71cc4e5e9645 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a1e663ec-a1cf-41d3-bb53-d7ae1d2b5512 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e1c7c273-a806-4a7f-b6fa-37ac104a9c6c phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:41af021f-4794-4d24-8c8f-a0a7f8b6a9f4 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d9cdf5ef-3969-4849-bc0b-164bdd516603 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6bfabb81-d28e-4619-afac-8146b747ad5b phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:473e7edd-5bac-4169-8db1-dacf003be7f7 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:eb002010-161c-4620-8ef0-b6fb67335ea9 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:186c6e5a-8782-4d47-9bdd-efea528260f7 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:f57c647f-7a08-4d57-92f9-8a5e4008e652 phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:d2fd7b47-1e0b-4d8a-b618-c199f79fb8c2 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:b5d9dec3-ebbc-4730-b5fc-1897e1dc78f8 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:2972fa8f-0adb-45d4-83f2-de8a19eaa1aa phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:231dde66-8bfd-4015-852f-8ab742a9c03b phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:58b24aec-ac48-44e5-9cb7-dde793600f73 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bd513085-c30e-4fc4-a446-d7d3a43c2bc3 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2072942b-d8d0-49c1-aa50-70f10ecaac81 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:478405b5-505a-4d46-b784-4d0f826351d5 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:872951c4-67a0-47ff-9022-6e4199de8e65 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e6cccb91-361a-407b-95f7-e88e8f1fdddc phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:1b89fab9-90a8-46ae-afbd-92599e8e85d7 phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:d47f8047-0d6e-428d-a8dc-7e65ce0cf4d9 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:69cc49a2-5dd7-4533-921b-7fea5cec3838 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:5baeba93-0658-433c-af75-e47d4a081b76 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:595bf204-0bc3-4465-a08c-ed1bef211d86 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:d4ce3b4e-d060-48cd-834c-eb2a92bdf224 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:fbce08ce-a155-402d-b181-87cc3510fd0f phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:38a97f6e-287c-41f3-9a8a-033ba6276030 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:3b966930-6c1f-4139-928f-7113f2c4a83a phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:b861bd6f-f1ac-433a-b56d-a9013c4357c4 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bc6968e7-61a5-4ee3-98ee-09e1a539780c phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4f93eda6-8b48-4345-86e7-234e3abd0c4b phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9f781366-6322-4c64-8a15-af46b7c92380 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8edaf303-8bd1-4d16-805a-d2d49b105c11 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:adbf1e9e-683c-41ed-8920-2f7d48cde65c phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e7ed9f59-95ac-4f65-b01b-59f419c179e9 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:0c9f90b9-1457-4b1e-bd38-bdd24309cf71 phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:25cfee8c-391d-4772-b0e4-47da8f57db51 phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:25835445 uuid:3332f398-a633-42dc-a88e-d09f45890a17 phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:82a0242a-33ea-4045-85d6-ca9e7c36740b phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:8a4656e0-9e82-4bac-a326-2de36f3effea phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:22a7483f-e0e9-45d3-8b36-65ef7eca19ab phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:7d68566d-0592-45a2-a42c-2534d19f8f09 phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1955cc76-d227-4fcd-b06b-8d830f42e5a2 phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:cac4d66f-3e6b-490e-a76a-915cec54cf6d phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b413cf0a-1371-4176-8393-5ea977da4e6b phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0b7f9775-0559-4cdd-a5c0-2401107ca1e4 phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:fafd78d4-9fef-4645-b1b6-aa92cb2f48cb phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:ec309765-f7c0-4124-97ba-b4679f563424 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:d4e19013-0b2f-418b-875f-1e6d34461282 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a96b0028-251d-4cbf-a419-8862153f0440 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:c4c8f779-4620-4428-8f88-0bce209f352a phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:02659565-fef1-47e3-8de9-968eb4003d01 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fc322de5-6f5c-47a6-994a-453282ca00a3 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8fba21dd-3112-4de5-a724-d55bd0910eb9 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:888c7a8e-5bf1-4b8b-9f95-8050fafb092f phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:426afdbe-dd7b-4024-a51c-61e30fce2f6a phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1c15a9fd-f8b6-4d43-99bd-bad356d47f0d phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b47de245-553a-4979-bf84-0213c65f5d87 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5f0a2278-a7bf-4e25-98e0-5e9fd5b9757d phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c4f1ef4a-28fd-4722-9d64-1f8c8b678a34 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:112372f7-ba02-49cc-8f0c-eca404ec1a83 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:c1046c92-b5db-4a78-b5d7-c71a4ad99aa0 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e8343e7a-737b-432a-8b7f-1968422e6b12 phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ad609811-f393-4ccc-a6ca-798098794a5c phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:fb712990-aff6-449a-9daf-c4277d800c9b phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:b6ba52d1-27b9-4468-98bb-8db54350d317 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:d399f832-523f-45cd-a010-3fba028ef2e5 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:730b94a5-e3df-4d40-ad06-c73bd329af74 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e16fa823-ccf1-4a73-8390-c8fe69e76e4c phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0031607 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:9d8697e0-b080-464f-a861-9d698ada4ad1 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:6912b643-05bc-44cd-8809-c12630192cc9 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:93e7bf32-52a5-4565-9e72-0b11584c9f27 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:159a6c12-1d49-4a07-93b8-11485be8d58a phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:50133d97-73e2-41e6-829e-440df49bc6bb phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:68c62e16-31cd-4dae-a1d1-6c1e9e7e3522 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:d8c77e86-64f2-4e33-8144-c9c9a227b68a phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0034419 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:334859cd-b234-440e-a5db-2f1591ee0070 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ba207143-203e-48a8-8a7d-b0d23b2efde8 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b5e75896-4c2c-4a81-819b-b29299ef5337 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9ae9be0f-d7b9-4eb7-a357-620f2f1fb046 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:53a925e3-5971-409b-8763-36c11e677b57 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:367e572b-4005-4039-ba11-5a6bb98e31cf phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a6254911-aaf1-439f-9834-f9e464abb79d phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b627214e-f9f2-4a6b-808f-647c0ea78c06 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:40a9d71c-ff49-4f22-8dc7-f946af8e6197 phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:adda705e-3054-4eff-8a9f-eb2f313b7447 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a04a1cdc-8696-43b0-bacc-8bd555d360c5 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e5f21c24-3925-4f5c-94fc-005239c7a940 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0dafc5c4-942b-415d-90fc-a7df8b22d407 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5a73a22c-a57f-4fb1-b13c-36cdd73dbc8b phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9b591b94-79d7-4e68-b3e4-ef34585e0975 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ffc0fe27-b416-411e-8f64-e4f6a67b2894 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:723c0b23-0eca-4b63-ad47-283cac09cd9b phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4763ebb5-88e3-423f-8aaf-fc9b911838b4 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:81d863ba-dd7c-4b25-9466-5b729af589e8 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:3ca326b6-48d9-460b-880e-77b4cc2ac9c2 phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:01f85887-fcba-4c03-99dc-8e31fb7d702b phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:27d7e954-0769-49d6-a521-c5652e1727af phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:12fc9db9-9211-47be-921e-6d47c4313d3e phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:227f0ab6-c6a3-4973-8264-9e86cf2d771e phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:0d150515-e130-459d-8ce4-ddd46a56de80 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:61779130-64a6-4c10-89c7-021e74c4b10e phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:fde6d573-3f28-43a8-af00-1149ccc53ffa phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:0ba86a7d-23fc-4639-9e33-959be2c4c125 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b82f4652-7887-4d51-b025-35c554c7a47b phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:8f442a13-a50d-4259-9df4-0ca6888d1db2 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:1e938534-fefd-4ff0-a92a-fa0139c7d900 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:213bbfd5-7bb4-4731-8215-8b29fa2706ae phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:204c6b4b-a35f-4a9e-b088-94a0bad75d4f phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ac4ccbda-5c07-4055-a8a3-bd4f0d594b15 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:a5eaea49-d57a-4e6b-b409-9ec2d2726c96 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:26364cdd-c032-4337-8c55-2eb3a4ad137c phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4e6957d7-61dc-4aff-be51-2ea9ac05879f phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:db50a122-41f3-43d0-9355-d7670d65d89d phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:07e6b205-d278-4208-a8b4-d0c7dd49b297 phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:1a3088c1-0267-4066-9798-5a246e74c165 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a6dc329c-f610-47fc-a98b-176169eda52e phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:70832920-11bb-4dd4-9098-111af2e962c9 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:f5a39301-f3b5-4006-ad04-269fa00f9bc7 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:1821cbf2-e719-487c-89c5-dae345dc5274 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:308f9c59-f6f9-414d-80e0-acaaf07f57a3 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:10b67eae-42eb-44a2-a3a1-2d811ed8f7ed phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:bab791d8-9cb1-452a-b693-3d1351f95fb0 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2b95e09a-6df7-404e-b49f-6a57f714bcfb phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:70f53176-9653-4550-998d-4f8b7fe98636 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:2c33800b-e96f-48cb-acd2-5462f545579d phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:587f4ec0-da4b-4c1b-8e09-b769e51075e1 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:25831b9b-02a3-4d47-ba0c-916f264b993f phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:aaf67bf4-1c5a-4680-bc89-f353752be559 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:58ef28cf-0b53-46e8-8375-afd2860b3e7d phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9b93c7e7-eecc-4018-86b4-0cde2f24cc43 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:96405781-6675-461b-868a-0c42334350d5 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:e5145a6c-e126-4608-9d0a-893d4c7bb12f phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:ebc7fbb3-0096-4a8b-aa8c-3e4b4ee669a1 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:f2a33c1f-8a37-4f11-941a-aacd15a36240 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0000098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:5cddf02e-5cc6-4f21-8280-11b2bbf43cf2 phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9a226226-0fce-4818-9155-97b949e3a1fd phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:42f3455d-d3f3-41fc-8767-e12890fe8f6e phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:2de3c7ca-04c7-4c51-94eb-6d3224c3b9bd phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:e09ce5e3-0473-452d-add2-c84dc3a5eefb phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:53efba40-0936-416b-beeb-75cd675fefae phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:a71f6d60-0ac2-4146-8809-523ca77fcff1 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:ab27014b-af5c-4657-8ad8-2a3b6cca9019 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:9bfa6f49-807c-470d-a39e-81df6af26c3e phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:210902bf-2024-407d-987e-7cbd1ec41cc2 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:4da98839-b719-4865-b247-7e4d66f4cc88 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:f05566e5-cadb-4d6d-899b-49320e47e6f6 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25835445 uuid:9f862253-3514-4e84-b439-ed271e54cbe7 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0031649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:90d18766-ddc7-4a7a-ad3a-b60355753629 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0005112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9ecc9ea5-718f-4e2a-82e3-d7843a0ac23a phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:30f49218-9597-4d31-8104-1e1876164a7d phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:afeb6d3b-c088-4245-88ff-d55b8cd240d5 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:9d075a8a-4332-433d-ae64-a55695ea80ca phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:54168cc7-3682-4d23-90ed-d49f78abe71e phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:4945edcd-0392-49bd-a10b-b91ad964b6ed phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:b3e56a7f-b14f-47a0-b586-e240b23dc79f phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25835445 uuid:49272801-bd91-4edf-b20f-46ae7ded9c38 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_disease OMIM:615582 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:4aca65e1-0729-47de-9e63-bd16988fdf42 phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:has_gene HGNC:11769 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25835445 uuid:0a28b681-b6b9-4183-b95f-b4f3dddfc32f phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:dc2d2543-beb4-4496-a202-ab4f6e7b0eb5 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:42385898-2fb7-4804-8764-299c788c34a4 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:e9fe0779-abb0-4025-91e8-f9e412cf655c phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:6b0d8a42-89dd-456f-8bb1-e1322e81af91 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:a88b51ed-bb3d-4afb-839e-7c346239eafa phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:c3b7f93a-47b2-44a5-91d8-832b1c8dc608 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:f7e998f9-e6ac-47d0-8d23-ca839bce3fa6 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:4a81af58-24e6-4224-b9a4-d5a3a7040601 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:064121e5-27df-451c-9d41-98fa1d785de1 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0005815 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:31341033-214e-4386-8413-0c9717b55bbf phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:de2cb8d6-d7a2-4928-a5ff-fa2aec4f122c phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:969c9331-14bb-46f4-aa37-5400c3005687 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:ec79c0e7-eae2-4956-9135-3917a78b8503 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:5e4c134d-25ad-4ef1-a4b1-a23846977be8 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:d6ec1d94-43bf-4def-93b3-a106c3cd4505 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:528f524a-7191-4484-b66e-0d2c3acba4cd phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0012432 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:0b531f77-6c4f-42e1-b14f-fc8c149f4017 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:f960a956-7bd5-43b4-a4ff-141070fa8898 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:e0fc3ec3-15cf-41a1-a209-f5b8bb5dc1fd phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:94b8afaf-ca57-411f-8655-c7b8057e9cb2 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:caf34d6f-872c-4ae8-8fe4-d15f00d9e4bf phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:670703c1-917b-4e07-8ba8-20061afac364 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:744db079-815c-47e7-a90c-ba83a30603ce phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:c2007593-e90f-4720-8b54-afb58c00c19f phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:31907fd3-37bc-46b3-96ae-3b0351b37a8b phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:3eaf4e38-3d85-4b87-85b1-b0e275bd863f phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:ab672478-8faa-4e90-80c9-c87083d40a85 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:cd8e805b-ebd0-4183-8dc4-a035394b1bb9 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:7e200ed3-c07b-4be9-948f-0c747c23f378 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:7c71f548-b6cb-42dd-910f-57445ca1a1f0 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:327ac43e-6aaf-4086-96a9-8a7c6bf2d294 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:24a403b7-7822-499e-9e15-07aa69e0ef6b phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:220c48a8-3082-4565-a9af-fe1936a6e61f phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:92854f2f-72df-4dc7-9b15-00c7f556bb60 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:385121eb-0c2a-419a-9de2-77958ecaceed phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16596670 uuid:02549ba4-3cbf-4b59-b64e-c8533adfe783 phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16596670 uuid:573d74c7-2529-46b1-ad36-ad0c7161fce3 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P65Y infores:phenopacket-store PMID:31475485 uuid:a93158e1-37d4-4840-badb-d44df10b8354 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:31475485 uuid:2bb5ac57-b430-4033-8399-3abf5bd726b4 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31475485 uuid:817c6f37-c2cc-44ba-af02-ff6364149427 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31475485 uuid:7ad52d6a-8293-4b17-95e4-6dc2b4b10b4a phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31475485 uuid:fd7d6274-e87b-4b11-ab65-d6de22f6759f phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:bc56bf88-7f57-46fd-832a-ea683a39f7d8 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:128aaecf-e8c7-49af-b306-6e39f19e0bdb phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:1d310c67-b47a-465f-9a16-6ba5e14d093b phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:7df3eb57-f806-4c82-bd85-446c8f254c2f phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:45ac93bf-f717-4ddb-90f0-9a4fd67d44ef phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:f63788c6-51aa-44bf-941d-a37afa022dcb phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:647887d7-c543-4186-bf5d-da9701c2e395 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:baa5b401-5408-41c2-8e51-093fc32b79d9 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:2ab0c60a-cb9f-4530-832b-c360e904504b phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:9269215a-7b10-4a26-9cf8-e9837d79d744 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:83d161d4-896b-4abd-8ff6-cbddd760faca phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:edfed716-8382-45e4-8862-df141e19f286 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:03d5bfff-5ce3-4a7d-b08f-25d5ff864971 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:832b4fa8-1b6e-4555-b3b7-24c19fd66ea5 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:2b002d34-23d2-4699-89bb-c42f4020caff phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:c2949620-4c80-445b-98f6-acb66e4b3eec phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31475485 uuid:0d54a964-cc92-483d-a4eb-12ceedf6ed5e phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31475485 uuid:2760b165-c1c9-4b36-9412-1d16d803ca57 phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31475485 uuid:10433308-681b-4c7d-a31c-eb3decb24113 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:d0ab9c48-60d2-4c53-b50c-d13b8e2c06f3 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e60d945a-3384-435f-a101-b1116792b8d5 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:fd94754d-8906-4d50-9e59-07fd5e149184 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:1f96b34d-5fd1-4632-b40c-bdfd911695fd phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:dc034b4e-02f9-4a88-957e-3d2a8ae7b423 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:6f7fd9a9-1151-412c-a921-df50d7629259 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:bf7bdb37-d3c5-4e6b-a07b-b86025baf749 phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:a3321d88-1f58-4909-9f05-f68e4deaba8c phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:68f3ab3b-06c8-4a16-b4d2-48974fb05c1c phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3aaceabf-e7d9-4c6f-b101-7b0868bc7caa phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b9b4c006-e451-42ab-8104-dc41fa9a0dd1 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0d2ddab2-24ae-481c-bcb9-1fa1e7ff7c1a phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ce60d3cb-7b20-4eb5-a3c4-8dc98ba304b2 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:76afd57b-3c76-4eae-a9bd-e7a620d47639 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a2e74031-0eb2-450c-acdb-3f5063ca860b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8ee32637-c477-47a3-b896-84852caf6670 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:03ac1fbd-1f54-4990-b145-93a0d90413ba phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d56bbb45-e7be-48b8-87cc-f93e6318c189 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d82762a6-e1cb-40de-88e8-b8ddf2347a81 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:de840d14-905d-45d3-8984-7cbd1eff409e phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:449c1190-afbd-4682-a4fe-463ec13936ef phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:118363ec-4f15-479a-a680-c2290684c641 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:68a3634e-25b2-4699-96fb-6d7f46a5ac7b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b8147ad4-f8b0-49f4-a161-87e2f50038ab phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:58310f07-0c82-4b52-8612-394d43b3a1a7 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:48357093-51f3-42b2-982d-480636858f41 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c70169e9-89d6-4839-a752-c1941c209d2b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b37501e0-f117-4534-98a7-72c4e860bb70 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e7bf40d5-a2b8-4abe-afba-3b0df02a2923 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5f6ff4f1-c812-494d-950c-de51fadc7366 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7b8eb63a-eb4c-46e1-8fc5-c4149c1365ff phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:49727c98-04f7-4d30-a891-21199337404a phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fab76cb4-3e04-4ca7-bf93-c1849e35a028 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f0c90518-55de-4735-aad8-8803275194bc phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:36d15625-9e6f-4bcd-84f2-65c94784c8f1 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6a509f38-8233-4228-a19b-3e49e8bb1889 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bcf61da7-b156-46dd-ad6e-7f76c8f85e58 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c7b66c9c-c4e1-484b-87f0-70e6a78d8364 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:59aaa7fa-5122-41a3-ad4c-723e7936f08d phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:88a523ac-4272-4273-8b58-44f6032e6b62 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7c6021cc-c848-4939-9440-5a575a55c7f3 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5ef6007b-5c48-4f8b-b045-6fd1406234e8 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ec5c7ad6-5a57-42e8-804e-94923ac89b24 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:180cf4ac-fe74-483f-bea8-be9ab18c251a phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:458def1e-c5b1-464c-91f6-6505382678f5 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:97ae3c63-479c-400e-a760-085484538d24 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3b870344-f947-449e-a955-e82eb4beeabc phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b42b72b8-dcea-4e7c-b94a-cc6cc224fc10 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:51828c7d-bc25-4ae2-af2c-188c15fead3e phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:de867670-bc14-489c-acc2-1003fcd6e146 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:79840bb8-cd57-4edf-81a5-25d4425752a8 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:25f3018b-2824-4db2-af90-0679786a10c3 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:65eefadb-942c-4506-a800-8d210011c2bc phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9c5a6db3-8e66-484c-b1b3-35e7ebaa8b0d phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:f54b9a40-30e7-4811-af2f-8c1fe4247d4b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:4af20504-5bfd-451f-8f6b-dff297d0154e phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:bf82b803-c3f8-4cf7-b67b-1bfe66eb17bb phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:df5d79ce-b065-44e7-a656-64592e14a994 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f0c9688b-4acc-40c3-b66d-62a8b5feb331 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:569c8a4e-fd47-4432-956a-906383b23ad1 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c81ea434-dd6b-4888-9bb9-62b90fc4b607 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c1595326-1e51-41df-a8cc-7a56c72ec89f phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:cb9d6e46-19d3-44d3-896f-25f6a8f4745c phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f3a77340-cf1f-4371-afc3-d4548fc63a10 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f67e05f1-3118-487f-ae01-8b2b3c310489 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:2ec02083-8eca-4708-8596-fc926968cc1f phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d39dee1d-15a8-4cde-844a-a01df13e89a5 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:1956d357-e1b5-47a3-83a4-872f52ea4f93 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d7d3aaf8-1bf9-48fc-a2cc-155be3eeebb5 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f8da4771-b7bc-4489-bf6c-17733715d072 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:3f18e461-d5b2-48c0-bc2d-139771e7de85 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:5af7f900-a41c-41a1-9e55-9b7417f8cb78 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:41e02fc8-e41f-4f5c-9045-9eb757aec04d phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:16ff6183-8d14-460e-81bd-2855de172506 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f410e833-7942-4654-b1a4-868e17300dee phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:90d35bbf-e29c-431d-917c-61d12ca82853 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7f8796ee-31e9-47d0-9cb1-b51e8ff52698 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:5c9ff87d-b250-4b4b-a3cf-3924211ca23d phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ebac50c3-2714-4ba8-96fd-f599d6a9b921 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:48aabfd7-c26a-4925-aecc-ac4080571752 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:4023cdd2-cc3a-4b50-a8d8-96e17913c2ba phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:92ab002c-efb7-40e7-b7b6-6d843001c80e phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ae31118f-4f41-4a10-9292-e7397b587b00 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ed5a6ace-8bed-4eb2-be4d-f9411cc8321e phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b2603e40-df8b-4167-8067-73dc517ef719 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:72ceffb6-86ff-4e84-8139-371d5e29d92e phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9c450432-2b01-4884-9263-2d1e543cef18 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a811564d-8b9c-40f4-b770-83d8f228f86c phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:7bca0c38-90fd-498b-8914-1969505bd525 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:a47f50f0-668c-4b27-920e-167356811954 phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:664ad434-7b43-4e92-a083-637cc96296fd phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:06fe252b-0153-45c1-8d37-b4393001241b phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4884e95a-7093-4b41-85f3-d3bf5f4fb046 phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:befb3043-06ba-465a-995c-12afc84efa22 phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e674f1c2-1fd6-400a-976e-e8ded2dd962e phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:129aae29-9ab6-4ef4-8542-95bf42cb2c0a phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:2cae9f5c-1d89-4e6d-be5b-d5d0f709ac57 phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:c62075be-9347-4161-95b0-af6b6915d030 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1e968608-1507-43f4-93be-9b919670c880 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:60092361-7f04-4744-98ba-851e08f91dee phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0993d63f-a20c-4099-9fcf-dfd0cc2ae8c6 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e58ccf37-74a2-40ea-ba07-1758e6a2a513 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:bbb8fc13-7cd3-4f47-b3e4-7a9875435f8b phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d71b4cad-b0d8-4178-bfcb-f4b4a38d1e4c phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:42752307-de98-4b12-9737-a23a52e4cfb7 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:bfcad8a5-514e-4273-b79e-7c7c0498d337 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2106f161-320e-4f60-b13c-ee126ecadde2 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d76eeee3-7a64-4f83-a700-c98f49d63b73 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:602f5e5d-ba39-441c-b9c1-cbd9cd3aa874 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:70ef21de-9085-458e-9e21-f37c0c93a589 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a7c55d2e-807c-45e9-a931-e84b4d0efcd9 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3b94fed9-906b-4b85-9941-e1d1b50c3f2c phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e896cb1d-17dd-4189-801a-72752f224386 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:dc920931-161b-4524-9e88-2b028a1fdc43 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d6631642-6893-44ca-bb21-c6bad27ead7b phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f41f0c26-34d8-4611-b800-f30ae9efebc9 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2811fa6c-d11f-4247-82c7-6341948bf33a phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:464915ab-d975-4295-ab2f-d63810682af2 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3496de51-4cdd-41eb-8ae7-daf60b65f9cd phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:997ed71e-1222-4c1d-b503-79cb3b699959 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:00a51149-2617-42a5-92fd-1196cea50d4f phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e553041e-ed6d-4295-9026-af23fe2ed76a phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:df006329-2016-45c4-9a53-b3ded6206149 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7659e065-5b85-4862-8f73-e7c3934332c7 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ccc70ec1-71a1-4d65-9a0c-2c23b3c05d64 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e1e265bb-c388-42de-b445-f216930a6e6d phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:92bb891a-47c6-4c29-9f28-b114694b36d3 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7876e04d-e2e2-420a-9c28-df6adad9b60c phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e1b0993b-8c78-4550-a46f-7111ff499b7f phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e3e7b1d7-aaab-4222-8f5e-63bab92df960 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:61fe526d-77c0-4b94-8684-3f1f67d8112a phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9fcf89d7-45ee-4287-b0d9-3ee6b6bf5105 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f87f7aab-8027-4997-8e45-1a44f4ab937b phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8ab211ac-7ec6-4039-9b9d-a4de2da98168 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:96251688-98fa-4c4e-aac8-57f607e76da6 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:252a2248-3cf9-41e4-9fb1-5f0fc063abf6 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3738f8e6-468e-465a-b0ea-29627bade4a6 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d5f33885-91c1-4d8e-bc99-e27fb99b49f6 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:01c21b02-30a3-4d79-82d9-4f8aa32666be phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:09282acd-64e7-4ab5-b9bc-aa2590e372a8 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a5dcf541-34dd-4eda-85f7-c49dc169e6e3 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:09acd446-a2e3-450d-8435-12007f5ff7f5 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:594bdb4e-5e6f-4923-a01b-8fb866a8eed4 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:65eb518d-ff59-4d5b-9d62-fc8e1aa298f2 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:045b0568-e5d6-464c-8747-2b2c56f21df0 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:db67a180-ad90-4e04-9170-3a5dc6f30b9f phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e09587ca-a376-484b-bab6-82d9f4919244 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:070c9032-f9c6-4c77-ace8-c3617e2e4bf6 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:168a92b3-2a9e-424c-8277-db498aec6d23 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:1eb75888-c8ff-4ea0-85ea-2b309b1dcabc phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:bd930a5a-0f3b-4e03-bc73-58fb06ced794 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:0755b9dc-6c46-44ca-8072-01fd4d6e1525 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ce1c1e9f-f30c-4852-befa-7785e30d807f phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ee5af038-0147-41cc-b6e7-3176d9d6a8ad phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d4dffcf4-6254-4341-b6f9-110fa330bcd1 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:10224a12-f891-462b-9664-6ba665d16ae2 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c6b8dd66-92d8-466a-8b8a-139835bfdb06 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:49c5ba6e-bd6d-4fb3-ab90-3da3afb67fef phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:defa616a-7526-43d7-9ab8-b0185b9d8f79 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e13f6088-603d-4dcc-b96f-81c581211094 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b4447b03-b9dc-4f67-83ec-f1f4e5bc54dd phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0e046322-1b08-4242-8a0d-b339257aa8fa phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6cd7b5af-1aaa-4650-a399-7b84bbf0aacf phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:523b2413-56b9-4c37-a91e-ce1fca8bb492 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:14736a78-a950-45e2-ae84-f6e375f779f1 phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:531b0190-1c00-48b3-bc7f-495e446dc06d phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:331fd523-4008-4809-b626-d03ac14d824b phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:791cf4e5-d26e-4735-a663-a70cf4760a1e phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:30701076 uuid:ef65ac07-2551-4a7b-8863-be66d58aa865 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0005815 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:30701076 uuid:a15a6040-251e-4e2a-80d1-a16257465ffe phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:30701076 uuid:45e43927-3bda-4a77-8937-95ee3b922fa3 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:1894b98f-c4d9-4603-bc05-0e8eacdde4aa phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:f6c89cf6-3ac5-4029-88df-dc141a81a159 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:8d3ec5a1-8269-4864-8aef-a0ca2fc80c7a phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:89525d47-af8f-4010-9a0c-fa76d57343c8 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:f517abb9-f620-4084-be49-eee38fa7e5d5 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:16edc715-d8f3-4a39-af49-896fba496344 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:e46c2450-69f8-417c-8352-c3cddbdf9da9 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:82263bbc-c04e-4c7f-b35d-cafefc24a322 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:a58ad05a-3ab7-49e9-a821-4517545a5bbc phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:eae0a57e-7563-4135-b05b-c9b513320988 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:11f3de8a-ad2a-4659-95f9-3c6a8bfe7633 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:f35bf6be-a66f-488d-bda3-2a180efbbaed phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:7502d15e-8b61-457b-b7a0-3231a90a9d29 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:778636fc-9857-44ba-b0cb-f8edf3a0c6fc phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:30701076 uuid:08e8b829-af2d-47fe-942c-7ca88e40f888 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30701076 uuid:e8128950-e67e-40ec-9196-ce031411d893 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30701076 uuid:720d4540-2aca-48c0-a7b3-81cf4e15c923 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:30701076 uuid:490f67d6-b364-4896-ac4d-424a9c16e993 phenopacket.store:TGFBR1.PMID_30701076_patient biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30701076 uuid:e822ff35-9a18-4e00-a86f-296e965eff8e phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:3301b237-4cdd-4059-8c86-24a3af32ca54 phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:2481f4b6-b0e6-4d97-9475-9176bd7e97de phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:b7b66940-7134-4e20-be14-9c525bb3f1d1 phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:b47396d3-0bf1-4951-8ad5-2aec01d6be6b phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4bcc812d-ca81-4244-a2bc-f680dc5bcd5a phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:6e8e9b86-d264-488f-a4c4-d150d1cc2f33 phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:4c6d5fee-6ece-4fbd-9fa1-d9fcca540b71 phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:caa65a6e-6c04-4982-9b92-82e6505227ed phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:2efc68cd-ea6a-4f8a-95d8-3baefeebb79c phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4ef98b46-2d8b-415e-bfc0-836e53e71e9e phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:476e47ff-f56d-4651-ab0d-664ae04a05e6 phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:17812890-5663-4df9-9f06-057821d9a14d phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:b054d8c8-a4c1-4ab7-b496-b672955e6418 phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:c356f72c-87e0-4df4-93ef-eb1e3b7ff6f1 phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:21bc2ffa-b7dd-448c-b09a-133ff37a7d36 phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:4fe83167-4c0d-4e46-921b-e613d48b39fc phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:a88ce9ce-e1b9-4eb1-a726-7ca10216c121 phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:caf426db-56d7-414e-b48b-afa914b664da phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:8ae80090-79f9-4842-b438-e512899128f0 phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:a79a8fca-fba2-4b8a-a0c5-e2871f044edf phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:a28e8a3e-1b72-4de4-8a5b-ff25bf3aa2d0 phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:f9e853c1-5126-4044-8dc5-c945f148bf88 phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:ece22ce3-45fc-4e40-a33a-ff42f4346f05 phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:8442fc7b-b4c4-4a3b-8738-8c6da6d0a235 phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:d2d6c696-ca8b-4cd4-8722-b7bb077020fc phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:24a6f8ca-399f-4978-b68e-2089f86fec5e phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:fd6a0132-309e-485e-a41c-b52c1974c93b phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:0648199c-1266-4e70-a871-7fe066f3dd56 phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4561ee9f-fc6e-4a4e-ba4d-58986f586ec6 phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:c04b3c97-9761-4445-9373-9089eee6837e phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:faf11c26-339a-4131-91c7-724c0b74efec phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:5d0b2f93-15b7-4f4b-8010-679b64deb552 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2d5d0c33-a371-4085-8258-9f621fe347e0 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:632a2f5f-8a03-4d47-8b42-55c2fef55560 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f6b69962-43dc-4e6a-8f60-76104dda0e86 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:18489e7a-3e7c-4cf0-a377-428062c7babe phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:21a3a88d-64f6-497d-8d3b-f2f905004f7e phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2c2cc2d6-f5bb-450c-b553-7488ae8e24c4 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8d398aba-cbaf-4b64-873d-ce56bf60226b phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c6d65f4f-5da0-4844-801b-16bdb753fca4 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:14e30e36-f832-434a-b84d-248018cc62c6 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:948300d1-1a4c-484a-8b83-eb980caea003 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e6a4911c-0ba8-40c1-9545-cb5dbfc1f5c6 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8735bab7-2daf-4d85-9b7a-bfee82bd987e phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:80753710-4170-4ca2-9138-22e11034aeef phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a5b10ba5-28f5-4bb7-a0ab-51907296a9f6 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cf6eb9a5-af97-4fea-bb08-2f8b83a9bea4 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4785f60b-b352-460a-af6a-8e128639cd3f phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:50cb2509-0e9e-4899-abf5-0429fb3d4ee6 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:85ef5150-b27a-4b95-bbfd-c751dd82e701 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9db7cffe-10e8-4345-a00d-5fa814be77e4 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e853fba2-0b80-49e4-ae39-12e71cf1e04c phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0eed1fa2-d96f-4209-95a0-564415cc9fd8 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:68db25b5-490e-42f4-8e80-34be28a8b342 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1628bf96-5e4b-4ea8-84ab-c60699ea2aac phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:431b4a64-4b22-419b-8062-bab13284a1e5 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bbd25f2e-ed95-4d15-ab62-3117a284fa19 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ed67f436-3bfa-4a63-b9c2-2df5fabb2f08 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b901b4c7-e35a-4a00-929d-5c567396ee4a phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:348e5ea4-122e-4419-8c95-5c64f564fbbb phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:75cd6abd-60d7-4423-a6a4-27a8b029803e phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f4c3457c-a8a2-4616-80b8-cb0149dfb10d phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bb365cd9-1ec2-4d6c-866b-9a5e49d1d9b5 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:448a7a32-2d04-4985-a91a-715d5c79dad3 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:59cbaa35-c247-453f-a592-2130e8b05703 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bff27ae5-016f-4213-9e9e-30ed5a731584 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:99fe690b-7746-44fc-9b30-f4e6e01af66f phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cdf21da9-8258-4b7a-80ad-d79bcbd7aaba phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:368c2316-bad1-41f2-af9e-35e7b9abb5b7 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c6ba16bc-0eba-4552-aefc-21230f826ac1 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a199f02e-220b-48df-8b6a-95606e64b60c phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d70e1cfe-c2a2-4bde-b7f1-83f8e812034e phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:becd1345-ced0-409c-bce8-5319fb9d8c8f phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e680e76f-9e05-40d4-85f6-d0e987dd8111 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:70e39689-3956-42e4-a670-39e8bdcbce10 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:03fa9fd2-0315-4575-9793-e61793618c46 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:860a516f-d785-4ea4-b697-c6396f91b71d phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:83f8fe04-bb9c-4c43-9bb9-01daeb07d7de phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:346a6ed4-b183-4442-b5be-bbb63758af6b phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:d6f09d29-da04-43bb-a52b-3427fe3a23ed phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:5fe8557f-dc31-4c76-97b1-8f4c4b892535 phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:41dbd810-8fb5-4b17-8e02-26038dfe341d phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:d3603b94-943e-4eef-93a0-83d5f6b4d485 phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:ca45e403-6c49-47e0-be72-768ffccea1f2 phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:d83f367c-ef33-407b-8e0d-73a7f578b1fb phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:612ec226-57ed-4ae1-b4c8-99b6ae92f069 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:994d3b6f-b448-4f0f-b0b2-3174c8584863 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a030c123-8c63-4fff-8463-16db149e76da phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9a2d1b84-dba4-40fd-a4b0-3026afdb546c phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3f61d6ba-bd22-470b-a1b6-38a80f3fb1ed phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fc08b602-3285-4e20-8f52-ea53f6f610d7 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7934b3d0-5f31-4d80-9af4-ebb82c50cd7d phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:879c8ab6-129c-457c-8192-8caf1220d7fd phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:add8aa67-3e5c-4a34-a1fc-ae9b9213db57 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:72d3b20e-a016-4036-b529-7ded8eb0784b phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:01bfca9b-9314-484f-9f64-efe03112c4b7 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8286336c-f3c1-4893-8e20-60c4ac09813f phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:57293a4e-1b3a-48a2-8b6a-60151ee97fe7 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:db09ca37-7ee6-4be6-8e31-f050c81b31c1 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c0824c79-990d-4436-828d-35b5018a9eb6 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:247841d6-de36-4d01-bdcc-c1126d71f23e phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b04dff0f-d899-4ddc-8be4-f965b43074c5 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f48115ea-677f-413a-a765-a36e5740168e phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:67b21b0d-564f-4850-8c1d-0b053ba481ee phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1c6ff27c-0354-45c5-be78-57f923ce7eb1 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:88ef4915-07f9-4854-829d-6aa648c7ee4f phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:71bc5e64-4ee3-4ab0-8be0-d5986f310a00 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5e534854-9b93-46c7-a37a-fe1022934a74 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:70b3a9ed-e1b9-41e5-9959-ff03069709af phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b61dc316-92de-4f42-8302-d79be6b38c57 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d631478e-c8fc-4af1-a646-295cace5d2d4 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9ccf46d4-dade-41e9-bfb3-e62025703c3c phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:78d94811-9bc5-4669-ad31-c9ac34342fbb phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:01d2be6b-1612-4878-aba5-2bfefd5d5569 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c64577a8-21bb-4006-b2a2-0095220d51ba phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dde1d2b1-626c-4c7d-bf07-77ded6f6f69e phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1f6939a6-c137-44f3-93df-1c5604baec0d phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:18a88698-956c-41b4-a0e9-ae6753881c22 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9bbcd4dc-0467-40dd-9130-9a085c356a4d phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:21e8dce8-0d60-422f-abba-46f5036cf543 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ebd06885-559b-499a-a167-eeb0056608f3 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d82491c1-0129-48be-b8e3-db889adaae1b phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:66b4f230-206b-43ae-872e-1167cc38ca48 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9f858f87-0da3-4a91-876a-be55639aa4f4 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:66852fef-81cf-4ca2-89e4-8fab7a724b9a phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e9f18041-5fa6-4502-af0c-3b20fc6b572a phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:839013f1-e98b-49fb-bcba-0c1f700500d4 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2f9ed703-c252-4cd3-8e69-0e8660bf02ed phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9abbe04c-13ba-4436-a954-01335e7822f5 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3513d1bf-473c-495c-8388-f8d95683d000 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:55b386c7-b527-4231-9bdf-05e739f17332 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:1524d1ca-422d-471c-978c-8cf9d98a7b8a phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:3767fc44-8cf6-4c56-95da-9476b40c5eb1 phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:b7cbd69c-60df-4d89-bb5f-bbd3d23b3c7e phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:f1a89e3a-113b-4fac-b191-c56420f25b1a phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:6fe43573-3989-4198-b79b-98363fc7de67 phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4bfce232-f08e-4e2e-b1b8-6ce807584aab phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:37c6ca6b-b1b6-4a90-b231-df471ddd5f61 phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:dbdb50d1-43af-4bf6-a38e-cc183dbc9990 phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:48b8b420-9c9f-4234-a0fb-0684e8853449 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:9695914c-ec78-4576-9f6b-c77a8cda419a phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:f0bdb386-7729-465a-9891-97a0b533e205 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:1c4be23c-3bca-45e5-9e48-259c113554b0 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:85bb07c2-7089-4e37-9fbf-e6677e22af96 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:6510ddc9-ff24-4b04-94dc-80b2c84fd058 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:a403deb2-9462-43ae-9164-bc44114afd49 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:f3b978ef-1432-4cb6-ab64-47f7e4f3e9f7 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:91065a0b-42b0-4a76-bc51-f43a8ca40243 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fafc64ed-6efe-440f-a4f1-ab592db3c423 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:12fee7e3-3948-4ad1-9a31-554fb0d5911c phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b9f10821-ff57-44cf-a71c-adbd55878615 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a634eca5-501f-429a-8300-330d2791231b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ba6c70bf-89b5-481b-8903-84f09c5ec7aa phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a1ae00f3-c91d-4d08-a8db-0eb40c1559f0 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:99f51c80-ced1-4e54-b028-8460f6183e95 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:39b61aa5-32c1-4264-ac94-02624f912f6c phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:51f88ac5-e52a-4f48-896a-fe9bbf522344 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5a78b157-5454-40dd-993f-524562dc3dff phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a33fbc2c-e1b8-4953-bcda-92cc0e4213c7 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3937cf20-d420-4bd9-9a92-9a6605d940d6 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cde006ba-1830-4d53-b2c0-01a41ed9cce6 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e377ff20-4a1a-464e-bc26-a2e9c5eebebd phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4b69cfa0-71b4-4325-9ccc-e843a421d93a phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3ff2d5b5-4a18-4d95-8127-ea8a2d5a831e phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2e3a39ae-993a-4e62-af4c-0fe5387c5fb9 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:57d4c298-6dc9-4294-817b-2350ec9576ad phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:59c3c8bc-894a-420b-8edc-f96baacb6789 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:16c4349c-5717-416d-9ffb-588c7429e24d phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e6693505-9085-4111-b257-4aaadbab6997 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7cf4cd57-5858-4f65-873e-0ec3dfd0ef08 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c37d7bec-ba8a-4b68-b454-170605b1bcc6 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a2747e77-9d8a-4dc1-aac9-866f7d433ee0 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1c5cd392-221a-46a6-a343-1c1d719c5c1a phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d7acf3cc-a48c-49f6-b3c6-d7dd7eac5a74 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b569cc83-32d3-41ed-822d-52d4e69578a6 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7bee336a-2adc-4b17-ab74-4cc237b519ad phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:32bf7211-fb19-457e-bda9-a4c8e000fd28 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9ac00dd0-f843-4aad-ab95-89865057cdd0 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1368543e-294e-4116-a1df-103f749bd87b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7b06969c-bf96-4fd5-be80-2db471c6423e phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:564cef6b-7096-49f8-9655-20fa674639ba phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:568475d2-434b-4dae-99d3-ef90a958d55b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8e63f8a7-5cbe-4557-9bf6-415ee8256223 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5becd9cf-8aed-4c2f-ac90-4098e52be5a9 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7b9528fe-f45f-4218-b7aa-0a5ee4cee8d2 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d2504367-46a9-499b-ab54-87f96458eca9 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2735745c-ac5d-40ff-aa30-987a8d7db9c7 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0980383f-c7bb-46b5-8923-4d95d2e38d60 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fdc4b6a1-5652-4fe3-aa57-e3fd9ed6c6f4 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:88d46dc8-6259-4615-82a6-9c7eb1bd331c phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:286e2cdf-b178-4004-a2f3-cacda8c5f66c phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1471c7a1-d8c2-4501-b0ac-3a8cda0d7989 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:359113d7-1fd7-48d4-abd7-87df7dee30e7 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:22452e81-78b0-443a-bd59-9f26b57d1e85 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:0c4309cc-fa8c-4ea0-8970-99a12339b38b phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:1e09b687-61ba-4742-8c0d-5522d940f334 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2fed623c-187d-4aa0-b0f4-225566f9becd phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:564985f9-6989-4659-be5f-a5bf4de546ac phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1a9770a1-a727-43d1-a922-a44afce8a0a5 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2b4d1822-ef84-4a6e-a1f5-53630260b275 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3db40cc6-b0ee-4f97-9c3a-9cb20e7e4363 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4a3534ba-9b31-4087-9d91-864a9d08f8ad phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7239a03f-a657-4334-b362-bebe4bdafba3 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7ea00d6a-b746-4f42-a708-b1ee8ca38f37 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8d363ebc-a29c-43b8-a3ce-e33bea1ebae7 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:52ebf5dc-2992-4dbf-ba67-17da8839ca73 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:55cc6510-5972-4eb5-8933-947b7a696c71 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7d378f37-ee9a-409d-b6fa-69558508c0cc phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fb3ebc25-a5ec-499b-90fb-82a52ab27d38 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4081556d-0e0a-42ec-960c-ccba4de83bff phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:aab957e2-5693-4a8a-8652-3f0942a73103 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0a240973-4a2e-43c7-af31-7c5ee04c7353 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:55cd1a4f-89bf-41a9-b470-1a94e403c999 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dcaaee3e-89da-4963-93ab-4dc088c9bd64 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3f15c6ce-4b52-44f3-999d-a9a31a3afabe phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1db0e021-afd7-4fc9-8d76-416b9ac32289 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dad2bd0b-b7f2-4f83-a774-a1d5aa6ce145 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6d0f0b15-7657-49a8-8905-277b0a192946 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9b8fb2df-03e0-4d11-892b-07d10b6ce95d phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:54f2f8ad-5376-4426-af03-1a44c36579a2 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bc9c7dff-a323-4a4a-980a-a5b965610996 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5d458b2d-b573-4bd6-a8a4-c05b93a70884 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:760d5dda-150b-4b41-b86e-808e5f7e22e2 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:61ee2328-bd00-4ddc-8822-078a5c40232d phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:16f7e2b6-ec60-48d7-b363-3a58a7b7f66c phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b3103d75-20fa-4d9b-90c6-b4dc82334d5c phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9033bc53-56ed-48da-809f-6e9c3486e1f3 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9981c675-a6a2-4a6d-b24b-e9cf3db92acc phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a0ca234c-7309-47a0-9d6e-bf87b5ba9a15 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0fd4d94b-12e7-4cb9-85de-9c37b47c7f3d phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e99fb83c-e3ca-4918-92af-9a0c047cb076 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4cbbd2c2-d1d2-47b2-9197-504ed85ab713 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:22dbfb98-edc7-4b0b-815d-b3ac23df9ba1 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:618c2077-e05e-4330-acaa-0dbb344abff1 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0edbb024-2d9b-4048-8ac7-cec331da5fb9 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:985e54ef-eb74-4475-87e7-8ac9ae37daa4 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:385a7180-279d-49b4-b56f-b3d3fe6fa6e4 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:08736cd4-e14e-49d8-8ad0-4efee5cbc852 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:83a3cd01-915c-4c4b-8b41-4e32e3dfe74a phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a3711c1e-65ba-49a9-b80d-5bc495b7baa3 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9c8adfb9-ec9a-4afd-af58-a1a2eacf2a1b phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c395c218-3c2a-4f73-97d4-8d14f9500881 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:62664972-f5b2-443f-96ad-63f2264ff799 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:20c8995e-7a3e-42c2-af63-e211a1241bc8 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:5524d71c-3066-4444-9a3b-db81620ff92f phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:8003d74a-d318-4791-b858-82bda400133e phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:743aa320-68c5-45c2-b5ad-5b83b887b903 phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:312d2fa0-775a-46fe-8bd4-753f14611f87 phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:be43606b-cccf-42ba-9826-2d3b47f839cf phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:6ff6fd00-e9fa-44e4-a914-17ee83d0b2b5 phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:80c33f6c-791f-49ff-9ada-e42e5d3ac108 phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:17bff99b-c860-4a7a-bb1c-31f8f82c6966 phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:eba79784-4d90-4558-a6ec-4f9270505b31 phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c07fea01-b0b9-4a6b-adf1-9d309982278f phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e6ac2fad-a3f2-4286-85d1-2d3d30d3b5db phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2590762a-72ef-440f-98ee-b73de75385dc phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:35fc96b2-3909-4827-9d13-4fcd93c03291 phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:772823fd-7c36-4696-a0ab-6f10f5091acf phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:ed7dcf27-d7ac-42b5-91e8-0ab08910c046 phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:8540ecd2-2611-47b5-b463-674d0e6df967 phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4a3aa506-c53e-4c03-b1da-f48df3808fa3 phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:5e6870f9-e10a-49b3-a311-9fc58844686c phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:201b8009-f22d-48d9-a289-1ba8952e3150 phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:f05d4cd0-4e1d-43e0-9b87-c0be23b2cfec phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e8274288-41ea-4481-a96e-eab7e9c692dc phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:8c18a1ff-dcbe-45f8-82a6-6cda75df3d5d phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:5e1bc8fe-08b4-4043-8c3a-5c39c46a295f phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:7b21bb2a-cd89-4494-982c-3d02c803f074 phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:0dc84f40-be45-47c2-ad54-4a72fe9f1d7a phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:df46abdc-4ac6-4b61-815a-9b0d3a743cae phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e31fd8f6-6459-4797-bcba-e38f4740aaaa phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:95894693-d0dc-490c-a380-36335d9fb109 phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:3452c42b-16bc-461c-bd57-2863cb684f42 phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:90593ac1-2788-4322-9437-42b0c0f199ca phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:3b546636-3780-4bf0-bad9-adc8d68c5bac phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c83b9b02-ea9c-4a90-9d6a-e1f50dcc2880 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:65bb5835-23ed-4cda-9279-be38b4c04495 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8c4c0ed1-9b42-482b-afd4-332ee150acc0 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:121c9311-3da3-42bb-96f9-db75c1af7690 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4082c13d-8df6-4786-a10d-3dc8e6756259 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:824fcc7a-9746-4090-a957-8d75764b03bc phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8b49ed17-8c9b-4593-9bf1-a6feb087e7d2 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0cc77fa1-9cc2-42f4-af27-267fcc4465c0 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d9a93a09-ba20-40f5-b4ec-2d6fa7e60c81 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:032872c0-5093-4409-a324-9d7b0e4a0c57 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:06e87046-8058-4ba1-9978-bd3c12861f95 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b3359ae6-704d-4ca6-a8c6-53c672055101 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b07de1b0-a7ec-42d3-bd59-61a430bbf088 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:072f4492-eb5f-4ff9-9fd0-71c53681eaf2 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cd89ebd2-6294-4e16-958d-515bef6605b4 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ba93c128-ef78-4a40-8e7d-70f1be8e4bc9 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f858673d-6842-424b-b445-91ce4d77e4fa phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ffc38147-bcfe-405f-804e-a25c180fbf5c phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a4efc979-c3b1-476b-a378-5b1849346519 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:546a42ef-03d4-4bb5-b586-284f07c03354 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3a970ba8-879a-4b44-aa01-947f71d3357e phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ea921abe-dd3f-4025-a610-f88298ba9877 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3bdcedaf-e304-46d7-a3bf-bcaf058cc8d4 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fb3ac59e-6378-4775-a323-01e52d056869 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:56189241-bdd3-4f28-abc3-90d3eefa771d phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b2b112b1-714e-4064-ac25-29609b61ab32 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cabb918d-a4f6-4f13-89ef-7978c177d258 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:746809b2-dc5f-4fba-b91a-a7485b1c2147 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f8f50ee7-5c5d-4ead-b5c1-9b368425f598 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a07d7643-b62e-4e45-841e-2ffc5c4a6df6 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b1d0684f-1e2b-461b-9625-4f462ceb93e1 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:744da84e-f0ca-4964-80d8-41fa1d4f0538 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:38a6fe7a-23e6-4d41-8474-747675b6dc13 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0e6537b7-3199-4f2a-8e39-1a392db64503 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:47653bea-627e-4c75-9fb6-189c6e24c2dc phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e87e380f-4736-44f3-8d60-aa79756d41d5 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:343931f0-0098-4046-866c-b8e209ee8ddc phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5c8d461a-5ea4-4581-8b42-413a29b243c2 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6f929870-9cf3-4fce-9c96-d27280b20e0c phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2e850ee8-f63a-4afe-8068-5362bae77031 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:22eba91f-ad4b-4894-aa2a-826bb21408ef phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ce6ab6c2-3ceb-4378-a9b0-1e083872cd57 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:76d80663-d536-41b0-a542-584669ec9b40 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:af95b780-7ef4-470a-b22a-f79736e1bfb2 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2a627b04-b093-459b-ba01-e2a59d1b38d7 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1a6aab14-2c96-4c25-bfa7-93f39626ce53 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:a197ed8c-9dbd-482e-b155-9e72b6f809b4 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:cb2e7bdd-d06b-45c0-ad12-0c094d96964c phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:6cd02b18-fca3-4e30-a10b-168d532d32d8 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a2bb3c44-2498-4974-ae9b-8b1f50ec8d73 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d2f738e3-40c8-41b8-bcfb-696656bc9c49 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:780000bc-a89d-4500-93e8-97c9db96acab phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:69e9a65a-1009-4a92-9d47-97f0de3e29d3 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:3e03d95a-7af7-489c-9441-048cb70fe582 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e176f7b7-2015-48e3-a97e-282afc3e235a phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:4effd523-b8b5-47c8-97d8-7445160d0363 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:59dd5e86-27c4-4cfc-bed9-cdb8fbce5ca2 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:cf00bcba-1e51-46c5-b11d-b612b6a2ce22 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ef2110b0-fd69-48e1-8ef0-afa58944606e phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7982aeb9-864d-4981-8a2c-dd4289f030a3 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ba97d02d-49a5-45e5-9337-3ff001047c20 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:49dfbc84-fc84-45b2-8433-c38dec1cddb3 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d7fa5e8b-8df6-4135-bbaa-dd02135b8583 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:80cb5344-2afe-4071-bf41-d48de17f13be phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c298b80c-8685-4716-a022-28950ca8c993 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c1e1e09f-e05d-4d80-8935-c23134d4be27 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b8b87879-b734-4ed4-b069-c083bfd48d25 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ef35c596-e4a0-4ba5-909c-c5cbec4b566d phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:81c3e4bc-3b5b-4037-9be0-5ffbbca41213 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6b2d0a6e-df71-4bc2-a6e0-9c4a121e57d2 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:afe4f0c6-6a84-4305-928e-63199cc8d6e0 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:4ab695eb-31e6-4463-b9f2-283407b12786 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:34d355d9-18bf-4acc-9e7f-23a202d861fc phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:54085623-ef4c-4a07-a8c6-aa3311363825 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:fe0e68e6-e35b-463d-afde-1110689f261a phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:113ebbab-d43e-4328-9fe0-79e0ff89ca5a phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c0faac7d-f9e2-4635-9059-99d9d88e46bd phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:08200bc1-b7ba-46f7-b1c8-a5fa1e5dd04b phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:338b27d0-ba6f-464a-8d77-d1204601312e phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:a86b3ce2-faa6-46b1-abe4-ef3f57bb5594 phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:b50236b9-cdc3-40ba-a251-da1ceb629df5 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e544c209-3c33-44d1-8e6a-94c2aed96b91 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ba00e11b-1548-4738-9ff8-d758801a3144 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4715852a-da0d-46ad-9b2d-3af756f5d215 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8953a83e-353d-4033-96d0-f5e67bb71efa phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:503766ed-16f2-4938-bd4d-d5c8d49353a9 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:89f6a635-da08-4390-ac7a-934015cb9faa phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:bb0505c9-c5bb-4b86-8dce-044e0e75bbfe phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fc5253cb-e339-42a9-9774-1ca3cc903953 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4a7d3d94-fad6-42af-8182-bb903fd4c167 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ca5b8de6-46e8-40a8-8fb8-750e94a014a4 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:150e60bb-c2a8-4771-af8d-71867506a98b phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d029af8b-b12d-4386-a214-96335c771b17 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ac079c9e-e1be-441c-a8e9-bf3dda9c30f3 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:368015d0-2c1a-40b7-93f6-cd696332528d phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6be87565-b0cf-446c-b21a-3d64c192530b phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8c351f8a-bac5-4f17-8c00-2cce5ffde0c6 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:176d0d2f-105f-4930-8ef4-e9aeae1d217d phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d4cd7078-a185-481e-97da-1f7b49a9479c phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:58ba1c15-25cc-4fbd-85d2-ba89129c03da phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6d72d9cd-a491-4766-ada1-cc3df8e76213 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c4760639-6855-4466-b09c-b80f960244dc phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c465cf66-ea4d-41c1-ba25-fe1ae58240e3 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:87f03095-4de7-41ea-a958-7f3a2e6da1a2 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5511d40e-3890-4425-8a9c-18c5e72a7e33 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b43a275e-96f1-4205-8e4d-eab2f09e1f85 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d10599ba-0dac-4b6d-8530-3b204327270e phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:279c314f-01aa-4091-87d5-f630c9b94f8d phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3a5392cc-d7f0-4d99-bf19-d47402137089 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:200feba3-74d3-4f63-9147-bde206e671c8 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7e70c493-0cec-445f-ac69-3ad1909b2776 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:74c358ce-da5b-4a80-a451-108824c1f1ff phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d30592b0-0e7b-4cf0-8e11-03e0f85be20b phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:82132021-65da-45f0-a5b1-3393a3577e48 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d3b0cc98-065b-4305-bcd5-f50e6d251a57 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4af72a91-7026-4530-9a77-ac4e6405cebf phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ccdac3fe-8fea-49c4-85a1-df22c90e5866 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5d405c83-566e-40c8-a9e8-eb25c144f405 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e26b7111-1c19-4a5c-a712-dbfbf7fa8ab8 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5dc42778-ef79-4b9c-905a-fc7737f833af phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7b8e58bf-effa-4931-9753-d429329c3775 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a428d222-0292-477b-9ee3-78230deb9d90 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b890e246-57a9-4cda-a7b7-bd57d8cff009 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:504b90a7-93d0-47d6-9840-f2770eb4967a phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0ec9b71c-dc89-4054-8d87-2fe8f5d16c3f phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:341ba276-d4e4-4ade-9ca8-e79bbc553f76 phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:d5505e68-d633-4548-813a-263417680a2d phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:097dc289-bdcf-42ed-ac24-12f006f9dd83 phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:50cc3291-2c3a-4b1b-8c61-b997e5baeb43 phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e4acd3f8-d298-4099-bf9e-2a01f46d6538 phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:64adbf1a-8a54-48cc-aefc-fa292bef6d0f phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:d931fe44-9972-4f56-a86c-fef22b1df373 phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:94fbe436-1b20-491e-a5cd-1ab8ffb4ef87 phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:a6310e8e-2ba3-4ac2-8b51-c5eecdff271b phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:d1a7410b-a823-4cb0-a79a-c15478844487 phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:bfb38538-9592-4699-96c6-c64483c4f936 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:11ed6fc8-b0c8-419d-a8cf-ef8d43fd7aff phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d9523c38-52d6-4f31-93e1-8ceb2acd59ff phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:2976b3f1-c525-4041-8503-3924788a641e phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:33f643c5-2a47-4d96-9bdb-0dd23796803a phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:73a04a19-7983-41f3-87c1-0925eeaf74dd phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ac1994ca-35f3-42cb-8361-0ea3a76247e5 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:0ebbc6cc-4d34-4502-8768-8ce1290730e0 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:272556a5-e806-4b44-acc3-6693fb3115e2 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:46cc72d2-68e7-4100-a63e-2ecee5efadb8 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:558ef430-aeec-4adc-a29a-51207605c970 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ceb031c2-75f1-45e6-b956-2e73c7ec5a5f phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7d8786df-3f19-4b10-acbf-ba80f5dcdef7 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:dac87a16-bb78-4fce-8b95-8c1299d73d32 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c8ff0124-9fe7-44b9-93ef-994c7ff3ec89 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d167d6d8-eb0f-495f-a0aa-947b1512bcd9 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:83ba3171-b355-4608-9b52-eb7c929d14ba phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9cdc29fc-b20b-4211-99c0-82ef8f96741c phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:19738871-8048-4b98-b0a3-e05212433029 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0830171f-efa1-4a01-94c0-bf5b9021a006 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:82cc1d20-42ef-4859-90ea-6e593fe93a29 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:54e955db-9f31-4266-8c6c-a8e290358d5a phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c668f875-e9b7-4050-a88b-f3814b5997cc phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7b3cbd68-ca17-49b2-b473-d60d1de5be16 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:86447482-6e0a-4c72-8538-9ef1886fb4c4 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b90414d1-cfea-42e8-98d1-711d58f9f22a phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:bb8f73a8-64fc-4621-a320-c82f8b30a0a3 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ec00d4fa-e978-4271-9e00-a891eba2c6fc phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:5ab386be-591d-4a29-9d2c-312ab7d5d121 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a6f9ac87-eb21-46e3-87a9-4f7e0a5c6f3e phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:19906171-29e1-44aa-b7bf-513bda568a82 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f0cfa54b-d462-417e-a654-87f1b3ee7997 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:151800d0-7082-4d2f-9e69-a68a1de6f7d9 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:80059988-1949-4022-8298-34f3ffcf40ee phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:64ccae98-9420-4120-a12d-6d3c86e3c83b phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:aa5cfa9a-5723-4bf6-afc3-5c0b51e432f7 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:4ed8d0d1-de98-438e-8dd4-c486f5166855 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:8fec0268-f7b4-4350-b095-3477dbc43a8f phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:639ce893-7d37-4a70-803b-95e6a92d3fd8 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:7dda06ab-fcae-46f8-a107-bb47a718bd5f phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:a66cc409-83f6-4a79-89ea-bc1d8fb45757 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:b5045cfc-5592-4fdc-b6c4-2d75a9a81940 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:e252ed62-cd5b-44b3-b7e9-20c8a3d0e3b4 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:2c9a242b-4c81-445e-abc7-dd987b7facd0 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:cc29020a-209a-48cf-bba8-232891567f20 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:35fb1fb3-219d-4b7c-9d23-fc1c0bdfa499 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:1a7b21a0-81f3-42d9-be8f-8301556db185 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:a681d2bd-af7a-4f7a-90eb-fc71a7813b08 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:7795c3e6-1bb2-4754-87c3-bd8439253e72 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:c2250a25-0937-45b9-aabc-307a8622b6f1 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:bc49aebe-5b8d-4978-b49a-125aa7f87617 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:28dee714-733a-4272-bb48-d9d8abfeea5c phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0009004 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:874e04a8-6f83-45e0-b6b0-de26de4076da phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16596670 uuid:301967de-acd4-42fa-80ab-242786cd1937 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:0780fdf1-9e87-4742-b0db-22ebd02ffb5d phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:0bc1f954-2cca-4a23-be6a-79051275ae7d phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:7a9083e2-a5fb-4408-9793-b0ddfa2cb50a phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16596670 uuid:56fc1034-0e1f-4a8b-9f4a-a48b4ca38158 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16596670 uuid:cd03c8d9-97d9-40d8-889b-707a6757a4c7 phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16596670 uuid:08c8dde8-8085-48fb-a803-aeff9a5d5455 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cb0e1efd-b569-41e5-bd47-8399ba3312a4 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ca0e8dc8-1dc8-4349-8de7-92de39fcd7ea phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:525789b1-6227-4027-a0cc-7e75e0746c11 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7fc9dc24-5a0c-4d85-8508-c6c67859ab47 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0b03417b-ff1c-465b-b658-ee2b1f8d8fd2 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f6b26839-a0bc-4a5d-8f53-ac32e99223e7 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5131eae4-191d-4495-99b7-15af6ee680c9 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fd4f8506-4a08-4ea7-9b3d-5b970c590f02 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a9df7fb3-fcfe-4e13-842c-00e710b7f81a phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:584c6274-4a5c-4ca7-b1cb-41fb8fcae8f5 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e7c6310b-3877-4633-b9ef-12c400dad593 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ce169460-6de3-4e10-9c7a-f3627355d71e phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fe31cbc2-9973-4827-b95b-3873475a4aae phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a949dd63-6f7a-4141-bf09-32ab5bf66e88 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:06d6f133-8c15-48f3-9b19-153a90841eff phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b70f1bfb-c427-4933-97e2-20faaf735d23 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1ccbdff8-d282-493b-90fd-f4db349b14fe phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:46846be0-5376-4d76-8d49-50af23676514 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:19686e59-2fb3-444c-81e6-d6d4f0218ba1 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9a0ffafe-f72d-446a-aa06-2df38fa3cdd2 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9d19a51e-596a-439f-99fe-c127e9b400fd phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7830f735-1ee3-4ebf-b722-392f0ece6c26 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8804b4ee-ec0f-4223-a62f-97523207153e phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:70822cc9-759d-426a-b4c4-21f26cdff948 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:42bd4c60-9dda-49b8-a9bf-74353334f2ae phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3b3bca17-d4b3-497a-8178-d1a1afc4b9da phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f7e31a89-3fe4-4ea7-bdd4-c8d7ec2f3e64 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a5b1fb28-6afe-440b-bfd6-359183cf1e15 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8a28e353-99b9-4e50-b71c-ec91a3c37ff5 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:525c08b0-7e12-495a-a922-c36a1164fbcc phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bdac1c4c-fd68-4e5c-b85a-cd2c7dceda84 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ab05bb5f-6dd3-48b4-ad43-a819a6df59f9 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:abdf2c24-214c-4c75-b3da-759e1e692b77 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e22eaa1d-1e0d-4445-a04d-09a8527e32b0 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bd9cf8a0-7652-4d9f-a3d3-9006da2da577 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5e11cd4c-35c7-44dd-9b02-02722df7c49a phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:076d84c5-6ca0-4e72-894d-414c31554df5 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:db0218dc-777c-446c-b7ad-ff8bc4d54e03 phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:93e3f533-7647-448f-92c6-53c68b2d0d8a phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:c9f36e27-b2b0-4dcd-a809-4dc634be353e phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:57936e4d-edf1-4bc7-bd08-04597c8d33d6 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2297caf8-07d3-40bb-a816-6a7152aca689 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e01ba2eb-c5c8-46d0-8c08-68ebff15d0e7 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b89d657b-d754-4ab4-b84d-8c54395a88ed phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8c411a00-cffb-4d9c-ad0e-b473393ce819 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:72c9f7cf-1f80-4540-af9c-33b09a75c50f phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:89b11db8-d878-4691-99b8-b02f18543268 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8c805f76-21d8-4368-9e68-ed2871725f0c phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f3ba0c71-039f-4305-b556-f6d97766daee phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e0d4c037-ca88-48b9-b3b4-d5063c6907b5 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:636d6e2e-efc1-4b96-885d-f931f3837b4a phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c1cf15db-f9f0-4f65-bc91-8cb09d422a86 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:561ca86c-1a21-4ad5-b161-7f15f168de67 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d6a8f464-803a-4ab2-9afa-88b29a83af43 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1433905b-e1ab-47c1-b8d7-4197be9324ec phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:59ef8970-b006-4ac4-8e2c-3345224fd010 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ffa5da59-89af-4efd-b9c3-cc69411898da phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0bcc04e6-422e-4f14-8a1b-e59bc99c4cf7 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:64866fc3-b671-4ecb-9ea8-af3ecb8b170f phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a5fa11bc-ace4-4399-abc5-9a17f1dafdf9 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0eb8896f-933a-40f2-b291-7e1fd1f95cd4 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9131312a-1a2d-4d9c-b2d6-322b99852341 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4ee72730-ad3b-4eb4-b334-d1eb5a3e9834 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8cdf1d31-65d3-42d9-a97e-8a31757723ba phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:52206fcb-54e2-47df-9724-17c903e56c8f phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8c6e50a1-84c4-4bfe-9121-f5eee66247ac phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4c58f48c-36b7-4144-bbe4-a2f782dbf8fa phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d6050b96-461e-4be4-998a-f8dc3ed1ded8 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:119138d9-67f3-4bcc-af85-d07a226bed6b phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cb9a6115-73a4-4ee7-a6ff-59757b6588e1 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ed7f3b2a-b43b-45db-81b0-a92a04bfb785 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:226c2fd3-6cff-490b-aaf0-45c4f14b22fa phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2d77ea5f-5462-41e9-a9f7-44e71f2770f8 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b02d413b-5631-479d-b29a-f0f1c506164e phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b766ce9f-d682-436f-9492-c18b65fad3f1 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:98c5efd7-7f62-4a3d-86a1-fba9d60f3f73 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9a3b4e47-75d8-4757-9041-90994c1af779 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a4726671-0061-4a70-9136-8634c146b7b3 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:13faf1c8-ce80-47f5-bfdd-3fd3e5ee7ad3 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e5c1fda8-f0d1-4424-a714-ba7f80be6ab8 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:03f11a8e-2bbe-4c86-b211-fb64c0f87c21 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9fa05f45-0739-478a-99a8-b43c1956cd84 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b55e4199-e311-437c-b8fe-c9100b997a45 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a444cbb8-3eeb-48d3-980d-e04d8e2b7841 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:da15cdad-6eab-4a52-b613-557e5b8891d8 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e2fbb300-9e58-40c0-adf0-2698a7c89846 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b89401fa-2e95-4676-91b1-ed472fbe1a1e phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:62ad6819-49fb-49d8-bb1c-2a1aed4a76b4 phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:8e77c64e-2057-45a7-a82f-323565e84414 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a0c34e2d-9291-416a-9310-62dc30b29664 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2600b058-1c19-45b7-b131-ce7d8f533a22 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5aafce8e-b4a9-4946-ae9c-9b49ce827b56 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2698434c-e45d-4213-9aa2-2e257741845d phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d42797ac-fe65-4cce-8e44-88e3b06e1349 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8767d57d-e0db-4017-a8f4-dc6290c45eed phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e8775893-17bf-4cdb-8847-368c882c3f24 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:26c2efa0-8c21-4090-9b03-c99460f54063 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ac470c24-9174-441c-94ad-0b7350f54704 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:95e6a020-7c54-4a16-a0b1-b7da259cc92b phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a9c600df-985c-4752-8aec-df77c7c150aa phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:147a6e06-ee2d-40d4-a8e7-baf2aefa97fc phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8e9914db-d5e5-40ee-b4d0-9e36d8b973f0 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b62e9bde-43cf-493c-9eb6-91de5b382d75 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a31c5182-aa39-4295-b6b2-d383270fabd9 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1c03c82f-1241-443d-a564-91cbd99facce phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:371e8b78-8adf-478f-b5f4-01caeaf00f23 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:195b6305-f713-4983-b530-e1a551030f26 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:70613b58-d4b3-4b8e-8ef8-29703d1d6fec phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e625feeb-88db-48b6-8bab-85d349622920 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:628c2017-7821-4a9a-820a-b613fc3cbfff phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:52c0b3be-5bdb-461c-a840-e30abc191ffa phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:154808cc-55c4-4d2c-aab0-5a7aaf20830a phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c192aa68-a915-40d3-8c18-c9598913829a phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6ba5246b-0795-461b-8562-a149ca73ff87 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e4f8ad78-8573-43d5-9cea-b78233ead57d phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e23b23dc-a7e5-42cc-9501-f06aa61ba45c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3a5c083e-f855-42c3-b6b1-a34832eb0e2c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4b03835d-c9f6-43a3-947d-67597a28f6e1 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:17d88363-4cda-43a1-8e17-235373641165 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bd03d79f-976e-4a5d-a01b-19b81d58db30 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e392fcc4-a3a2-4db6-ab3c-e0f3bccc8da4 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:68a61dab-f1f7-472d-82bf-b9af2ac7c4fa phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:db564092-66df-4feb-b5af-011426c08118 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8fcdf971-b2aa-4470-a00a-4fb4a2bce3c6 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:84d09b10-fd84-4494-a842-35a1cb9e8738 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0178e64a-dffa-4b0f-9e82-22d0c0f4776c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:071ba88d-bb3e-4d24-b70d-343590164774 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:68dba36e-29e1-4456-a74d-e14ab4417ef0 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c01004a2-19cc-4295-b48f-9be8bccf536f phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5055a321-979d-4c0b-bd81-e44a6d22f516 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4bb300a3-e45f-47c1-bc9a-f636f8ce2e3e phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:292ae71c-e691-45ef-aa4f-a354739c809f phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5e886a04-fcf5-43ad-adce-950990fd15ff phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bd1312a2-3a26-4d6d-95ae-baceaa16c2b2 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:6763a79a-ef25-460e-b8de-2d9d5827457b phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:e22f25cf-675f-4132-8690-8db6e109e571 phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:920b45b3-a78c-46ae-b015-54d137500a4e phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:c3f28fbe-06b2-44b6-b3ac-ab8fd4453900 phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:a21debd9-abab-470b-ad53-0ad996b27900 phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e27b6bf4-d4a1-4933-93fa-bb2ee5e61d21 phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:af83769c-a30e-464b-b94a-f52712435061 phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:1d6126df-6ed9-4e02-bbec-fb0f96cf3a5b phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:78d9501e-1345-44fb-a756-952d357bbfec phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:30cf3d08-b48c-407e-9ba6-446de795f218 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29706644 uuid:838bda55-4191-4942-adc9-257bda94ac0c phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29706644 uuid:2478e88c-27a9-4095-9af8-93f79a7ceef8 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29706644 uuid:4c92dc31-0211-4742-9e74-9fa2d06e50c0 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29706644 uuid:1213957d-3057-474d-80cb-c21c1e14db56 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29706644 uuid:28addf7b-d0b7-4dc8-af7a-2755c0cf24fd phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29706644 uuid:923ca519-e933-4748-a378-54f747f25bda phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:db045027-81f8-4a71-94de-806f562cc3d2 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:b78b4263-e44a-4983-b9e5-910907fc13e6 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:d0fe7d7d-de30-4b54-869d-20775e0a4b6d phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:e78e041c-6083-475a-8114-5596e2d904e8 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:d03afb66-6a8d-4fbd-ae69-2000ac223e18 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:67cadfca-4be5-4751-9eb6-fafea86dc270 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:ee49cbbc-542b-4b8f-a93b-4cb53b7cd2d9 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:ae3cdabc-e972-4f0f-97e1-3955ab31d10c phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:507984f5-51e6-45c5-8585-3970de3a5049 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:e4ae0955-8604-4881-b3c5-6615215160ab phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:a1f92706-55f2-4786-ab2e-e066bb041805 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:fe9f1577-0c3f-4f84-b3ca-c4f429986d45 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:ee76cece-e4c5-492a-a02e-034bb758f8f1 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:4e6d5b49-2446-4e07-b69b-59bc6552a619 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29706644 uuid:729fbaa1-462b-4cab-ac93-1584ac45ad2d phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29706644 uuid:b7f9353f-4c64-4165-9048-2ebe3d95bf48 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29706644 uuid:971051c0-56d3-43f8-bff3-510d69697398 phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:d662712f-c588-4370-a957-b0bb703aa29d phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:65e9c9d3-fbdc-45e8-8a55-c3b318f942ff phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:69beafa6-1591-40d7-b188-7277830f24ab phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:faafb16e-c8c7-4c0c-8f49-3c4846b50a47 phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:d36947ff-5065-477d-a627-3563af6a29b5 phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:f2b73e02-283f-46c3-8b8c-793a2b2747fd phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:b202779e-1bd8-4539-bf42-b697051bd3d5 phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:d9b8b21f-034b-41a2-88fb-acf44ed479a3 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:47e0654e-0c63-4225-9b62-82b7adbb9b5e phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c03df03b-a1ab-4cc4-9e74-173d7ffea1cd phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:63e43b6b-9234-4495-b41c-474c6cd15432 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d346a204-3ce0-42fd-bf35-9bc138260f97 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9afe945d-fd34-48ac-93ab-09acf55614ab phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1d3c84f8-e9a7-4e14-ba65-8e9ea8be45bf phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f5ca07fb-9d5b-4dd8-8016-462c65cb112c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f376eacf-4caa-4dff-a04d-2dc5e711a3e3 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b9ef8c3c-838f-43d5-9f61-3e9d9ad66881 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c04a13ed-85f6-4b50-b962-10d6045e3877 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d430e29d-61a2-4a22-a872-cd793d714251 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0006702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:44e829fa-46e7-4ba6-b3fd-1f87acb95b33 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:de74a7a5-6770-45b9-b47d-ca262f6bde21 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3dc7fad8-b280-42c7-b3ca-cab1f7d7d0e1 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fabd4eee-1ae9-45cd-b422-b40b38cb10d7 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7e6e7020-941a-40cb-85d4-0c628c15ddf6 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d6247bc3-f324-4b7d-a1f8-01221b5a1a8e phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7ff563db-188c-43a1-9f56-d8e448327c1b phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4d6ef096-4f00-4249-8f15-9dedc0b5d553 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:94b59ea8-5105-4477-aff4-2fe07707c6f5 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:66bc9c66-bf3c-4416-ac50-a4a3ca238c53 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0835ee7f-a0c5-4525-8c02-a460b7c8aee3 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bd829bdc-d32b-4edc-8c78-b3a6e2a8794c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f9dad34c-10b0-4f59-9f51-bb8e6fc04438 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ade919a6-d013-4cf6-9dd3-9e59ea43b141 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:006a279c-6eb7-4620-b451-921de5c749f0 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f23afe69-9d68-4b01-ae5f-d99389a9cd04 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e3e07e82-fb8c-4d13-97c2-82564bfbe463 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bdfe6615-5097-4beb-8f19-c8954a78952c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1ac2da92-ceeb-4a5e-8be3-f0fd2aff0862 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:17c2629e-73f5-4336-adc8-f8d761a92a6c phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4fd72a1e-c4f6-45a2-b69e-1972171a50f0 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:05180732-f461-4405-b8d1-0aef8fdea908 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e9138161-e923-4f3d-98ad-cb193cd940e5 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2762a9ac-dba1-43d6-b60b-da2ee8a0a03d phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4c81c4c8-0c57-4a7a-b683-c552d5731e9a phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ac6dda1a-8fef-4e75-8bc7-9a2adacf4fe9 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f4e40245-614a-467d-8383-f003457f599f phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8a03f7f7-78a0-41d0-b6a9-40e144e7fa21 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dc3d6db9-522d-48d0-8d3a-22ffadeefc89 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9d496a9a-6712-4347-9291-134115cb93aa phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d6cf209d-bbe9-45e5-b78c-7ba81538d138 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bae3440c-96dc-4ebd-83c8-5c1d332590df phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0a57f82d-6726-4bee-8814-cf7c4d57efc4 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6526610b-a568-4e6f-b95b-a982fea0fc53 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:913e46f9-87de-426b-a9a2-bda24050d71b phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:50e440d1-badf-4bba-8705-18b0b3d9d34f phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:0efd1a65-44e8-48fe-9e87-dc4b3547199c phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:1d8e6bbb-2353-455e-88b3-5e21ed9574a2 phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:bbf00266-9078-4f6a-acc3-ed3fcd79937f phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:6c81537c-905d-4e77-b2b1-9b35883e2e39 phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:d1dafb2e-1a85-4597-a232-7bc702d67418 phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:4e04d824-f154-4e44-9bb8-897a5577f951 phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:db7409cc-e5c6-4604-991a-f6ef3de358e6 phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:e2f38e44-9ea6-4605-8931-70864bbaa6e9 phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:c67f277b-4cb4-43f5-aa2d-104ab47c0dd9 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f611f88b-44ef-4180-b74e-d0460d69b3d9 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:5d8b83e8-2f35-40f3-a8e1-98f80a7b9d59 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:b74b9228-b066-44aa-b7db-f583b64ff053 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9994fa6d-e222-4bc2-acbf-d64b8dc74541 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:cbcf0364-f481-4415-a94a-7e8a1d29448c phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:18b3d78a-ba64-4ead-9ca4-1207b0a1b01d phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:1dc374a0-bb3c-4334-9baf-4b98be321d96 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d90a4896-4674-476a-90dd-2efaa823e630 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e6dcf678-876f-4388-984e-093bd2f45328 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:700f22df-4c52-4ee7-8cf7-53843e92064f phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7a6ef6f3-aae4-4098-9e0d-1f6ffd7e7a40 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e6360b85-794a-4981-867c-6070f95c2b66 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d6029590-660e-48a9-8f94-a43cea02f9a1 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e3b4e22a-5435-495f-8dfe-ff66d2155924 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:465c799e-dd5a-4c11-bafd-936b646689f5 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6fdaf363-e067-4eb1-a25f-3a471add8c57 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0efbaa3a-2642-4af5-99a7-13651f515b04 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:8948b264-84ac-433f-98b8-7b34f8a291eb phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6b5aae64-a6af-4159-9ff6-17acc5e94090 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c6740e70-3a0d-4552-a41d-539536a3a423 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:5faa9956-60df-4d31-9b62-d248b07137d7 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:df3c4557-109a-4edc-a0bd-82e632bc226b phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a8ca8382-e408-4f55-8d17-4eeb894126c5 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:244391c1-2104-43f1-9c70-6784a7311c91 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f3b04e65-4d4f-44b9-a49d-416fbdb88118 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e4c01996-2df8-4cee-ac1d-5a39138f704c phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:30100db7-7df0-47b8-ac2f-1555e08ae24f phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:684813d4-c3fa-4448-a18d-fd2fe753ddf8 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:241a715c-cea4-47a2-9dcd-9f17573c271f phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:5111ca60-e038-41e1-8c98-b1865fcd5342 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_disease OMIM:609192 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:ad2a0e8e-37d5-4fe4-a872-a3b7bad75fd9 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:a7cbe020-ceac-482d-8899-37483459fa55 phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:7ccd1e94-5f67-4d1a-abe7-a5ffac1a803c phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e38666a7-45a0-4ae4-9fd9-4b80765704aa phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e6246eac-af6a-4010-b41e-c1241bb68b2d phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:454af147-93ef-48f2-bde7-b0839d2ede57 phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:92da2519-ee4c-4150-8925-4f5fe96cdac9 phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:da746210-bbd3-46b3-a6c2-05f115f80811 phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:d2ba266d-2cd4-4ab8-8148-ff2b1184e12a phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:45055f69-8563-4658-8dd6-13babc4bfbb6 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_phenotype HP:0034720 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21358634 uuid:5ac1c93d-ec3b-4448-bf65-9a76b3b6f14b phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:ed2e57cd-551e-40c0-9db5-999d3e3ed6fb phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:430a8e41-c630-44ef-b366-2a7ce3e9d3a3 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:80f687ba-047f-440d-9734-0c6404d85794 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:e51f584f-6fbe-4af8-8e5b-e01848ab7f06 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21358634 uuid:67982510-75d6-452c-9307-c91db569f272 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_disease OMIM:132800 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:5e4fa89f-af71-4707-a954-a3dd2fcf4a52 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:has_gene HGNC:11772 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21358634 uuid:167d8cc8-982f-4783-93c7-9b4ad108c2af phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0011645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:5ac7aa71-403d-4ddb-8426-8fbbf790a4c1 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:eb518952-ea06-4011-9257-61782138d3e0 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:3d4ea596-3388-4fa4-b987-7660984cbd28 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0001704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:4427d508-35e3-4731-88d1-c9e406774c38 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:a318a6d7-b939-495a-81f0-f790974f8ea5 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:f28d98b4-8409-45f5-8201-b4808bc957c3 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:296450ec-d7b8-4ca8-8f5f-a71ed0c3cac4 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:6239562b-3d09-4320-9403-e773fdac1191 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:b7c1b827-0cb5-4ff5-a3c8-b057760f58bb phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:4647979d-3667-43a7-9f09-f0ce5487dff5 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:6e87fa3f-1120-4909-8d5e-11999d35d947 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:e55a6444-983a-4622-8f08-9d9dcef7c7ad phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:62c665ea-a775-435c-ba49-97f64526bb4c phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30101859 uuid:d05a1d00-73b8-4c97-b342-bc8474733ed2 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30101859 uuid:8cd8900c-5753-45a1-a80a-2509bca35027 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30101859 uuid:77df6ab8-b5f2-48f7-9d96-6fe2c1555fc0 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30101859 uuid:cea87a28-7145-4f59-b2d3-198f6b050b74 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:755417ce-f93d-49a7-848b-4a142c84a922 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:0d917430-ef42-4d19-ad06-7e1301e71e54 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:c9cb845e-a911-4fa4-9c6e-151084f621f7 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:b2be2ff5-195a-4fa6-9ec6-d38cc5a67106 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:968fb6a6-e95a-41ed-a95f-4e9d357a2757 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:6b4c4131-f8d8-476a-8f4c-59047f90c973 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0008489 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:1f1b530b-63d9-42ed-bafe-a44e8dce80a8 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:3112875c-e285-42cc-8698-22199cbfc1f8 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:5131913d-1ef4-4997-b31d-a181443e7311 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:2242f33b-f3ea-495f-8ebd-3965a6726f37 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:d98f631a-9e26-4abf-840f-ea753bdde932 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:225ae0fb-fce8-489b-b232-c32d7642cf97 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:482bfd80-c94a-4c1e-8070-12d475d68dfc phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:90d377e4-fcb9-477a-a513-56473af120c7 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:bbb85e00-0c74-4b69-a957-b6c730ba3b60 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:886d4e31-9873-4505-9ca2-75b8aa5e08a6 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:6134477e-0ddb-4e4f-a4e6-a6a262e6ed0f phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:be8e507e-f018-495c-a0bb-63fc789164d0 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:42e06ea0-1472-4369-98da-7c3e6cce33d6 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:2ec31301-55b1-41f0-8067-046f1ed11cc5 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:ebe0394f-702f-4e95-ba64-c6609f78307a phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:7c71b729-b39c-4a7b-bc2d-c3e91e082ff8 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:b0873cbe-fe32-405f-8ab3-8a1b0d30f448 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16251899 uuid:d7a98a0c-93eb-458c-98f3-496143669bf1 phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16251899 uuid:2a42759f-3886-4320-843d-f2ffa2216d0b phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19883511 uuid:c1627c88-6bae-4089-9d2c-fe84868098a4 phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19883511 uuid:45c7a8e7-6795-46cc-8fe8-80a24fe19267 phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19883511 uuid:5edf05d8-36b1-49c7-b68a-cefe06ac9050 phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19883511 uuid:07203b62-5296-4445-9778-f904af279e90 phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19883511 uuid:a89d6a34-cbd4-4dae-8b15-a1da64bcfc8e phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19883511 uuid:f8e8c28d-44ba-4f6b-9404-33eeb7cadbc1 phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19883511 uuid:3e7530fc-01ab-4fa4-867c-1f86a1c82670 phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19883511 uuid:79aec7a7-006d-44aa-8ff6-4326bf1ccf1c phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:8db70ccb-bb73-4109-8233-9cf22d904c4a phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:207b4313-06c6-4fa5-80e0-15657e073b4e phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:e4149b6c-bf45-40f0-be53-39b6703459d0 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:f521c061-604f-467d-a5c1-d0e127654069 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:bb6695f5-e085-4f94-a7e1-550966dc36dc phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:a715fabe-8d77-4d60-a90e-87b8a2325b80 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:1ed8d895-a0cb-469c-856a-1d8ee6f5069d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:d97a5660-7ee5-4c69-8ee0-f6036ffcad60 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:757e4679-255e-40c5-800f-11fbd32700ce phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:813b801a-32d9-49df-a06e-affd63fa5cf1 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:71bd197a-511d-427c-b4ec-bcd23f4bd039 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:4c0726d3-5b3e-42d1-ae34-76936a47534d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:56edb333-c753-4665-b3c5-4d79e7b3e812 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:0fbcb1e2-eb3b-4609-94ee-10fed56eeab4 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7d92485f-d2eb-4880-86ba-957fea4d646d phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:563d5f32-cf64-4af6-969f-4d6bfd08a647 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7fd8f9ad-987c-4cdf-b330-572a0349d7b0 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:cb73ad34-f694-4d32-a0d7-7299aaae1e19 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:0a88fec5-e79e-4727-95c3-8afa8a473bf4 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:1ae91987-ab58-4a9d-a849-1cdefe591289 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e325f699-1814-4df7-a21a-eb3c3bf14fcb phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:2747e67b-cc4f-4aa9-b9cf-59ab1f2adb88 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:b866d319-a02f-4cdc-b702-bcb17ed26414 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:360914fd-6dcb-4894-8502-9ff4169db8c2 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:8a5c3ff9-ff23-4356-8ce6-a29199fcb397 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:00ead9c5-61b1-448e-8718-cb7b0585b7c1 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:94ead916-a454-4782-b1df-2209bf12ec50 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:b42b85ca-c1af-4ab4-a49d-03303a2407cf phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9b399071-c122-4035-a0f4-6711b1ac2f0f phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6ab29d30-8a3e-418e-84a2-4a6de4d206a8 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a9254fa2-fd16-4b0e-ac41-78b6bd65fbbc phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7f924341-b640-447e-962a-45cdf2a37ae2 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ef19d910-b32d-425d-bb38-65b9ee31698e phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:fe36e087-70b3-4854-8564-8508c1e7c0bf phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:4233be00-f41f-4ef9-bdc3-cfa47124bc45 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a66befa7-5d39-4089-9d63-f2ec2ec5b945 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:460625a1-e8b4-4df0-a117-1855306216fb phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7e149c89-3161-4e97-831e-8d70966f3f4f phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0a56b18d-269d-4d75-bf88-0e5acdda5713 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:3b0838c7-fb7c-4ed3-acff-64db57aa8df9 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:1dbcf6ef-0ea6-4b3e-8a36-4ed6dc03546d phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:00db5cae-0c11-4aec-acca-da3aab9a66ad phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:29917313-218b-45e5-a586-4e088e9530de phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:27d22f03-2a57-4c6a-bcbd-996d7fecb1a8 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:d5b69aec-ed80-4169-b264-63dae01cfb86 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:892c0c00-d7e0-4116-9a80-bc26131bce91 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:51bcc65f-b4df-4813-a7ee-00aa1a57e5cd phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:81a44a44-8802-4334-aa08-59e96cf57e6d phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5c8641d8-f5b5-4e21-a311-e14f36dae88a phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:dd90f0f8-ada0-4ba6-9706-24a03b037a84 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a2c35876-9d7d-484e-a980-8daef73f97c1 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d43f472d-2338-462d-8589-e0298b490bc6 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:64ffcc75-2df2-4adf-af50-65a69c99dddc phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fac3d171-f68c-4e7c-a03d-e29819659f22 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:145ff15a-0324-4ba7-a5fb-7648b3d2f837 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b93fc0e4-20a1-4ebf-8288-7e05869067f1 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:73517ea7-53f2-4a66-b477-0e8bdd03e4bb phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4d3fd629-9560-43b0-b2c3-60d4ad93b804 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e117ba76-683c-4fbd-b6ff-223d9de880d8 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c07282a2-59f1-4036-ab9b-6c2d242a8774 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e910b519-87fb-4ac6-9f12-a5da1e669d74 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ca06f2b9-508d-41dc-adce-72af1841e03b phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5911a3cf-e037-41e7-ba73-c39cbaddb81e phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:913503e8-3939-4a16-a36c-8a2ed3af4f71 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6ba95abe-a3db-42d0-ae52-eff8a496c3a1 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9d7c5eb2-92e9-4cce-9ef9-b47b5f96b1d5 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:03b0b4f5-de3f-40b7-95bc-d5ca7d29f835 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6742b134-d4fa-4582-a6f7-d92782721206 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e53a39e5-8954-41f0-b2f9-d08997120bec phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:06150a88-2464-4910-b91d-b93301f5f6c1 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:01669e63-8ac4-4186-a218-c4111a7af05a phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ee5c72d8-6e38-4294-b701-da704922e53e phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b088f311-f608-46e6-b5a8-7445968d95e0 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c3cb8469-20ab-4e20-902e-6679137f244a phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:18bfc139-f8f8-4126-ad5d-3fd00fa2e07c phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:f2868876-b5e2-4842-8619-2bc24b898c39 phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:a5c100cd-8b8b-4281-aa58-f3576cc0034c phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:024f7058-d0bb-45e0-85cf-9738a9801517 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:0f0b38f3-93e4-442e-a352-62e7277b6aca phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:6701d27b-1f33-4025-8bb0-ff643293470f phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d6173756-6280-40f8-9a02-c2a81278bf3a phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:0744fb2a-6e2e-4254-8861-793ab3c30da1 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f8f6110f-f8c8-49a8-8bc0-c8dfd1c7bdd9 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:93f94578-53c4-42d0-a3de-b51b271b2bcc phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:5779b274-d237-4b08-91d2-ebcb53bba08e phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d211e95b-1995-4a86-80ef-3cde9725ed36 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e69d40e2-6396-4896-9896-cb667c81335c phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c1f4e143-a2ee-47d4-8ffa-7f0d535853f6 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:4d2fc0eb-5d6d-426e-82b1-1259120db469 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ab1cb924-8fa5-4d3e-9b46-ec18a363c453 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6f5702e8-049d-4cf8-965e-fe1557669932 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ef414b8e-f37c-4c9b-90e6-744177dfa245 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b8d1fd9d-0091-4a0a-adc7-b9032afe190d phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:53b49c8f-1894-4287-be1b-313785a0e08c phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:62206f2f-9443-4950-8464-09754f9510d7 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:8bcfa697-b33e-4a95-995e-d9298f692d3f phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:4b5cedc6-eeb9-4099-aa76-eda616c54e62 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f53d48bd-c0f8-4de0-b96f-e6c9b427d450 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9b045f1a-5436-4b6f-ad71-801f2847f22d phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:134a6892-244e-4d86-acb7-fc6b7a970482 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2d47f5a9-d814-4d8e-824e-e61cc0af6c8e phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:1785607e-2c8c-4ab0-a444-a2b0c8db8e8b phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:76a38eeb-290a-40e0-a93a-832d4d9981c1 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d66450ff-3306-4455-970f-68c21ee79b83 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b9086f6b-ffe1-4b40-9d6a-aa8da2c4500b phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ee933e53-1523-4921-81f9-57e5d5d3bca4 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6c4d73d7-6f78-4f6b-80be-acf5efaa76bf phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:48291de8-0930-4340-9b57-32a2fc9f6e1e phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9cdff9f9-5a4c-4cef-b0d4-1e62e1cf52bf phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:af83791c-f08c-493e-bb0f-7568514bd45b phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:fa7109d8-f663-4428-9077-3b8525e66d6d phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:4cf58c18-cf61-4ba5-bba1-a98ab07fc097 phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:d6281203-c328-4aad-890f-3519046051eb phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:19875893 uuid:de0daa68-8a21-47ba-8f97-58b5f62e2c30 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:7b1314ca-28d6-445f-9d88-de3cb65f8e20 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:df81f24f-3b47-4de2-af8d-da01c7e9b522 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:214c79bd-9037-4714-9ef7-4518253b48f1 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:bfc520f1-42e0-469b-889b-12a3f7863385 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:5bf21268-495d-40ad-af1e-1732e5baecb5 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:c261b43d-e242-44cf-b9b8-189ca8d2c662 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:dd48c119-72d5-4335-b098-b1e48c4a672c phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:d35f667e-6dc2-4568-ac16-81c925c85cb5 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:60a119ce-00b4-4da3-9626-62987b272aa6 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:f30e48e8-1fc0-4365-8864-cac143a3f0f1 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:01ee6a32-0adc-4141-a3a5-61c5124219cc phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:e339bf65-7698-4d43-a4d4-ca7faa461a8e phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:6b9e2974-0d76-4cc6-acca-784975cf7ede phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:19875893 uuid:5fd5a4a1-7219-47a2-8693-b221c4f8003b phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:0aab259f-29d2-4cd7-b91d-132b401ef119 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:81d0ee74-2f99-408b-9817-aeaaf40a5f93 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:daf3f904-d701-41e2-a4ce-413796ec04bb phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:32bb865f-b40f-465f-a0b5-b89734bb15f1 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:0b383edf-a1bd-4a6f-a747-80b4b899d667 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:8a57206c-3dda-48d8-8acb-d72ca64d6dae phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:6c8548e6-8cb3-43b7-ab7b-ddc3c1b63ad7 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:630d0c70-5397-496e-a7a8-7b41fe83c2ad phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:6295ae0f-85ec-4f2b-9c93-4f09558bd7cc phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19875893 uuid:6796a541-9978-481c-b369-8142bc2e4dbc phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:19875893 uuid:a936020a-cbbd-45b7-9ba5-ace658867bf4 phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19875893 uuid:bb022944-5310-42c3-adb6-c3b091f9ad30 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1D infores:phenopacket-store PMID:33235621 uuid:ad6f0dc5-2000-4bfe-ba68-0fe1ce1fc48f phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M23D infores:phenopacket-store PMID:33235621 uuid:b636d89d-08fc-418c-87d6-2ac1a501653b phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:d2107355-47eb-48f0-9843-27de2b8f4989 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:553f8e0e-c77c-479a-a86c-afb5b993071a phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:c66681a5-4d56-4d79-86f8-ff8bfcdbf784 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:6e23146c-d117-4506-b8d6-92666a65dbbf phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:e8d6efec-1445-43c2-9904-a582f765a1a1 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:05111861-ea03-46b7-ba70-bcfd0c1d5eaa phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:a032f500-be49-4f80-b7bf-6b70fb27e24c phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:78099086-68f4-45ac-942d-655fe052704b phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:18acadf0-af65-4cc9-8e41-ba0bfb3b38c0 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0200128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33235621 uuid:3354ce7d-3419-4ff1-b912-a4748bab5223 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:8433c1a1-1cd4-43fa-963c-f3d44341f2b6 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:171f35d0-9760-40d4-9c69-0536d031fe3a phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:7c382401-aa8e-48a4-834e-80fd542df93b phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:2655b185-0fc1-46ad-bb80-305d0ac31232 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:5d1c4244-57b7-47d9-adf0-757dc1bdc914 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:4d08c955-e0b1-4dcf-b2c8-202e0d0a013f phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:6363f6c5-544a-4416-b98f-33bbda16d2ba phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:623bc732-3f84-45e3-a87d-a60cd25a1938 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:3ed75afc-2a58-4597-89ea-6022f097a7fc phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:0e581ec6-a3dc-49a7-b57d-6f3907d5512d phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:7aceba4a-d9de-4ab8-bc5a-eb9dadb1ab20 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:bd6eac06-0924-48a9-8c67-30d287a23f19 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:54a6511f-301d-4ff4-87e0-673a0bb66a7b phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33235621 uuid:eaec209d-f1f1-47f2-a769-d457338b1b5e phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:33235621 uuid:bc7a774f-b69d-456f-874b-8ccfea918cf8 phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33235621 uuid:30549126-cda8-48ab-a4d9-70db34e9e863 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:1f472870-eb2f-421b-86dc-f17c962364c6 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f9d0e966-dbec-4b29-9c45-ac98cf590fe8 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:4824b80b-c349-4ede-a5ae-46e7f1af37fe phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:66c10344-ff65-4e78-a514-539bb05f54f3 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ecad2832-9e20-45fe-aeaa-1db20fe4c2c5 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:82c06e86-7d4d-44df-ad6c-658aa1fecab3 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f9e347b2-996d-440c-b336-fa07a7f4ab67 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:82d5855d-5040-4eb7-8f96-3770a9afe701 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e4cc607b-b3a0-4321-a5ab-6201c6953fca phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b3138edf-d793-4a87-9a76-73216df579f6 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2767dbf1-1618-4a22-bf81-ef0c81f1de96 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d21091e7-cb55-4397-9a6e-3e67bfc35283 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9afddb28-5b63-4516-9352-c89eb79cb82c phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:1de1e89b-6757-4070-b9cc-fa6bbc57b7d4 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9a09334b-ea79-4920-a408-bee765398789 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0e947ba4-9d8a-44da-8ae3-6da20486b8d6 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:613c6223-e1c7-46cb-b841-c224ee6fb6e7 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f5ac973d-abd9-434b-b4b9-b0e75df97113 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f40da825-7cc2-4ff8-a337-d76d2c67c0ed phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:de2efa51-d711-456f-bb62-b3a32639d827 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a48ae4f2-25aa-4e85-a9dd-a20f001d80f2 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:08fcb13e-d2f5-47c8-b1c2-7443ef7e9db0 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a4ca86d2-1dfe-4fad-a1f8-32c95bafddd2 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2414d5fe-a506-4810-a941-40ae108342be phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:633f8d2c-8612-47a0-b3b9-99fab7225f75 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:97d4afc4-9281-46f3-8007-f12a9b8cac77 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2edce303-44b2-4c3b-ac73-996311e0e37f phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2cd1db3c-cc99-4724-8f14-bcadf43a3174 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0f07819e-1bc7-4d71-9ad3-6a71c9bd8fd3 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:4d9f8751-8e95-494e-a629-0dba984ed471 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2938d319-6266-42c8-9380-a78e103c0074 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6cdab352-2fea-44ab-8cd0-0206afa3169c phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ac3debd6-795a-4a72-9464-d617ba3985f4 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d6d10320-06ef-4f5f-839d-8acc26330da3 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9034133e-6fdd-438d-a24a-9991b762b6f8 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:e2e78877-7b48-4391-b618-188f84595025 phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:cce653dc-44cb-4c2f-9252-3562509d9dbe phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:48a61fbb-22bf-461a-bade-4a2eb9f96f58 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e6180b9c-84d7-4a8f-82f7-8be528a42def phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:45ef8f09-af06-45a4-8428-eee058291984 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f8c56ba9-e886-496f-85e9-aaefb90cf179 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2e0dfdb6-7751-4e31-ac51-3ac2d42e036d phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c654dea6-0f28-4472-a0f3-c0ef1257c2c8 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:61bd1cc1-e190-44cf-8ebd-b3ba1dbc0f71 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cc121c5a-8544-47d2-8a1a-7115fa46bb31 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:053a325c-2a37-4fb9-82f4-edb065c50bec phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:70f9497b-6fee-47e1-9ea4-8f4dbea9b755 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0bc8bea5-a0a1-4ae5-b110-2a624baca78b phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1463a626-2f97-4788-9133-c25e15749ee7 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fd3523e3-217b-4564-8ada-d8b8392b9332 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:df933c59-e8f9-4633-bfb9-509577fcddfb phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6e3170d6-fb14-420d-ba86-8fec0574e537 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:94323a12-129a-4992-867e-4a45cc4c99a5 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1b9fa255-6084-4a01-a38f-cf0c6ba1a78f phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1342e116-dac2-45e5-9b39-1b6cb4ad112a phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0820a17d-4952-432a-9954-b5a791e1cf5d phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6dabfba0-769d-4029-95fa-2bf0f2dbc98f phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fb6f4835-676d-47f0-a27e-d389e20ecb70 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:125c2b83-d6b6-4b09-abd6-4dc19a141fd4 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:aea52ff6-d910-40c8-8042-58b83cf84ad0 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6f0eefe2-ec90-45e7-bf14-14007b1eb710 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3b2e10d3-554e-4d4b-91ab-9b56cca87376 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:edc7b3b0-b2df-4555-adfd-5ddfcef63f5a phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dfa7c5b3-d0a4-4888-87b3-929a1a07a55c phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:775f33ce-7bff-485f-aa87-b010639118a6 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8c4b621e-9884-4161-b8a6-6d4ea80b728f phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7706766b-3674-4d9c-8eae-1a889e88a698 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:862a77d6-f1e2-4020-9db5-03516db297f4 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:63f2e01d-44b0-4222-96e1-d3eb77a819a0 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1b3ff0bf-ef3a-44dc-9c03-76b3028a3111 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e063c415-2a99-4c8c-8e93-99273d55ca0c phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:46ce7956-8c86-4472-9322-932ebf91aa61 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9500b178-e936-4328-9f95-e772231cb672 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:07dfba79-8e97-419f-bf9a-f93367285d67 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9691bf0a-b418-47f6-8dc8-a79ef1eaa292 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a5319f04-0037-4ce0-93b9-14bd6138f499 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fa80318c-ac05-495e-9e48-2900aa185f38 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:df9799fc-869d-4e69-97ba-50fd778acd61 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:af7f631c-2c2b-4210-84fa-e78bb4aa4305 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:ee60510e-6c9a-4ba5-9694-e3f4ab08d753 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:1c494bb1-ac1b-4429-912c-c6f9cef24011 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:bb20c7d6-faf4-42ff-9c8f-d39f41a4a4fb phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:4c135a10-e066-4efa-8e55-9519bc61712f phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:e26962ba-5e75-41c1-aac1-053d314fad76 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:0ab0bf3e-7e8c-44a1-8db7-bcf89f6ac07f phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:d1883fc3-1dc0-442f-b187-4fc7fe3cb654 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:a9ef3767-f491-4523-abf4-bfeb4ef7e430 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:211baba7-0654-4237-926b-c09f24909a77 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:c7ea4d0b-85c1-4af3-8ede-03b442c3538e phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:107505d5-6f52-47b1-a9ac-52991b9790fa phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:9ecf272d-cfd0-413c-8ee1-2ab97cc07272 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:fca8288b-2d3e-4c6c-a1b1-c885d1d2de4e phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:bd60db82-d1bd-456c-8483-9dae76f38dfe phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:b1882a55-fccd-494e-93fb-9fa14ce6e3c4 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:72295a47-e9c9-42a0-aeab-a89a327ad75d phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:3cacd7ef-73f8-4588-8caa-8ed28dae8a4a phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:2b7636a9-26fa-45d1-896a-8b30fc823b2f phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0200128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:4b3c9202-622e-4272-8bd0-ca158705ff38 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:b13ab516-ec22-4380-bc0c-5408663e470e phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:88d22086-db90-4f96-b773-b782a33ae5f2 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:c3606dc4-774a-4997-8d7f-27b236bc0580 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:60200660-9e14-470a-9413-7eb673cc8690 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:bf1eac60-1463-4dd9-9422-14858ee7ace0 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:c06338f8-6d52-4968-839e-e11797515a4d phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:65298c58-532f-41c4-a6f5-0dc0b2c9f302 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:38fe9661-31be-4b3e-a012-98c4c13dca5c phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:36efe87d-d3fa-460e-adcf-59ea16ad1978 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:79121e83-f4aa-498c-939e-a7a20841c1ab phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:c3b61bc2-1fcd-4686-9010-0ffc4ac09769 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:f0054849-25df-4590-a57d-9ab455d39bb1 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35668506 uuid:1824ccfa-8e6c-4788-86c6-c80d58c7fd92 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:100c8057-2c4d-470e-8410-f226c9ff2b81 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:5bbe75b7-0185-4eb7-86d7-77144b7d841e phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:99431668-b559-4115-935c-1e01c4e039bf phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:a96a296b-aaff-4981-bf4c-b336d7380dfd phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:6250c745-d8e7-45c0-a515-83aceeeaf48f phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:7e4a9a6e-f1da-4bb8-aaf9-d558462e9d6d phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:2b679b25-939a-4905-aa8c-d50c9581cbde phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:88204aae-2e14-4d0e-99a2-98c3cca9bc57 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:27ebcb23-0d6b-4cae-9e74-537c5ae27994 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35668506 uuid:d727c9f7-f94f-43ca-9cad-c54dd031065e phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:35668506 uuid:19358193-6237-4b92-a24e-b430646d2ea1 phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35668506 uuid:568cd471-1edc-4d4e-a783-abb41f5dfb91 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d8939e8a-a1d7-46ae-b440-e7f2794627b3 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:07c3b294-4390-440c-b5fe-97fb48271af8 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9b33e82e-d35c-4e68-a31c-3d1777088108 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8faa4c50-01a2-418a-af90-a9f7c689c8fd phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c8b21c1f-c1b4-4c83-b1c2-72d20044ef23 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2514f2a3-33a3-4c1a-b6e3-bce36d524b6c phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5321d53c-fb34-44fa-9cee-ab2e7271144e phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:525248f0-c0ee-4269-b966-873618b74e71 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:55e254a4-0c96-48e4-853f-22ed66d41dfb phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7728ef5d-714b-4359-8a2d-7f6ff1f5874d phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:13454164-e921-4122-9242-866ebdfe0d1e phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:911662b4-a20f-4ca7-8141-d80e34204ee2 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c7408bd3-411a-4bc3-992b-4ae285cfb516 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2672491d-8797-4399-a285-03a532e3dd41 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c10daeda-497d-4607-9420-255943790c3f phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a237930b-0ef9-4bb5-84db-a3e809bc5207 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:408fb01f-ae30-4ed4-84fe-2b2815d3a5e9 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d5bfd587-7040-4d4f-af84-4c3d654118e7 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:89c4db8c-5026-407a-8fed-a1d8c3466651 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e01847d9-a607-4e89-b58b-6cd54aee8068 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:08d008e2-5320-4ffb-9969-f99c54d22fa4 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fc13a3f1-692a-40a2-90d2-3dbbbb5352a7 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:289c76b1-7319-4191-ba55-55cbd79e396f phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:52c54e62-aa23-400b-aa6c-a56410985bd2 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c7009023-1ea7-4a9e-967e-ae0a8016e02f phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:edf01420-9818-4724-aea7-5707329d98b4 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f714000e-89e0-424a-aba0-dee7067d6ff8 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a628d7fe-4290-4a78-b7ce-6cdf7c78523b phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:aa18af19-ebcc-48ff-88e5-8d32761ffcdf phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e42190ab-1232-416d-9d9f-f4c05ea93913 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:65d17c96-15ec-4a3f-b831-a4ec545ccff0 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c04d5895-188b-4a3a-b161-5e20137a04ff phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f5fd3ae4-287d-46b1-93dc-c85ada8e29d6 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2b29b2df-82ed-4ba9-b611-d5fd36fc9579 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:14a168cb-9ed5-460f-91ca-f683cd4d4e6d phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:197221a4-3ed4-4093-83ad-6170bf864565 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fe945099-6ab0-446d-8ce1-2e97752d1c84 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b98cf5bf-0cb5-4775-9928-245545bb6d74 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b5ec4e15-c298-4034-8904-4904aac9a40a phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:1ad6eb22-09a2-4c28-9ddf-d77ed8988f83 phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:a52275ec-a4bd-4262-bdb6-98b645bf458d phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:b4a660b1-acab-402d-b874-0562cf012720 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f33456dd-c2a2-4212-81be-c63d12738311 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:92fd9ea5-2ecd-4372-8add-5064230376a0 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a6687da5-65a2-4f2a-92d7-7ae16a3183e0 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:cc9cc65d-ea65-452e-bf74-0ae0fa7bd273 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ee2a7b82-25f9-449a-8493-aabaca96774c phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:bc86b08c-b25d-41d3-b3dd-b92bc7a2d14d phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a492850a-372b-496c-83d5-0f135e2d6b20 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9c347dea-43cc-4ebd-bbc4-ef4a2c747a84 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a9462dd0-142b-4679-9184-ea0fb64bd2cc phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7e9a5f61-6442-42ba-a230-35874235a485 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:5023cb1e-36c2-4508-aab2-ee1c188fa15d phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e8379860-c69e-4b3f-ada7-d27f69cac7a7 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a930d668-9a1b-4834-ad0e-20e69940695a phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:812ef789-75a9-4e24-8295-a108f422316f phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0082744e-05ac-4ba9-bcf5-a6cf478f0b26 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e57e1283-63e9-4fc4-ad5f-51722d79acc6 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:63636f20-3213-4f38-ac1f-217b4335720f phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:bc1dbe9e-2657-4ec6-8b12-996b06d54bf5 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:8246d757-6eb1-4002-a30e-2e14e81fda32 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:39ca1342-b40a-4863-b585-ca6a09df46b8 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e381a286-4066-44ab-bf81-04ba0488116e phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6086f111-8dfa-46fc-abbf-af801d531e6b phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:789fb0a7-f196-43f5-8629-85931d22a9c0 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c87c4345-2a01-46cd-9e2b-af55d29c31fb phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:99649199-db0f-4f4b-9a39-c8e928ceb3e4 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:152be9e5-0062-414b-9c1f-1cb63e628956 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:3caa49de-ef2d-4459-ba81-3dbbbb2a6dca phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:66a2088e-f2b7-4ac4-9c71-f47ba1649b45 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f6b9c61b-81ea-4786-b5e0-d50225b988fa phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d10afa2c-5a7d-41dc-8240-d85108ef26aa phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c0c52529-00e4-4582-b4a6-e9e28d3179b3 phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:f19d17d2-50e6-43ca-b763-662b7f2adcfc phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:f9c1c21f-8e09-4019-8bc1-0deab2a847b7 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:919df03c-1ec5-45ba-bb83-7c43b3774f9b phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:49955992-e57f-45ad-b50d-53c2d44ae301 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9cc29a09-a189-4f2e-89ff-d1081359fe92 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:dd881af9-4735-43c2-b6e3-ddddad7babec phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:421a0f60-941d-4732-b105-0cf859a99945 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:dea540c7-21af-46bd-8991-6d68f7b290c3 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e1de59ae-0ad2-4c3e-9bfb-abdddcad71d4 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9b2236b4-0e29-44dd-94b1-6b74f304e792 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:8fca662b-0318-4058-9d72-96d3090c56a9 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c5baf6b2-aaea-473f-b1fb-4df61e246376 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9779fdb5-cc30-45f3-80c0-dd23cbcc6eb7 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a128a060-1fb8-4254-a5e5-c786b4d7d122 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a35a307c-cc5e-4ac2-9199-25ac5131fe5e phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:982f3d51-29d8-44a7-9e8d-38aef0ca1c75 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:5e18bcb6-7ba9-47ba-911e-8330bde647d8 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:95687bb7-e489-4bf0-9f31-b6692a6714f1 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9e3c9b4f-0ab1-4b15-b736-b85efd8680af phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:de805ed5-5044-43d2-8035-e28935d64a72 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a63e5f97-4a34-41e4-9178-3952c5240784 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:8e91a46c-84ba-40c2-a559-372c5282a0a6 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c866bc32-39b4-40d4-b8b0-efd964d8e73c phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:39db53f6-b51e-4186-99a4-f591bb1f40d7 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a45d6fda-4576-48c4-964b-f53e8ea79c6f phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:98f538ff-7c27-4116-921e-c89da35ae696 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:698d5de5-8b9f-4126-8bb3-5d5cb6841e6c phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:af750b00-fd05-4f9d-af21-ca16542b3837 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:06a6506d-9536-4231-a20c-537137ba7a0e phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7eca447a-0d4a-44a1-aa12-305f58c0c76c phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:208dcf6d-5e21-4c59-80ea-3687b6d82049 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:d31fe225-4cd1-4db3-beae-87276c441714 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c2ff022b-dddf-415d-a234-9f5bd5bb3378 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:8c640313-6d50-4d6d-9285-ccdb66259600 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a7b7669d-c922-4004-b958-cc0fb6c8bc25 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7d974dd4-ec16-4623-a2d3-3074d8e0f3ed phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e14ea9b0-de38-41c1-a93c-a72a0259c99a phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d0049dee-c55c-47cf-8aa3-a217177855d0 phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:9a827690-99c4-45ea-a9ee-85c34aff022b phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:f0da1eea-ee18-449a-ae9a-25f6045cfc73 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cfe97025-76e9-42e4-9be3-8aafdf162449 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:6bb12051-d453-4c0b-b60d-e82f530d03c0 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:64203833-7488-4fcb-87d5-969bd9b25c18 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:74fb40ca-cbb9-461e-a1fe-fd67d11bbea0 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b11fde5d-a4a8-4b28-abad-1235f29b893d phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3b12ff95-3436-4b09-ba13-da92baada9d8 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fca5a3c0-22ed-45fb-916a-06c4210e7500 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5967b99e-0bf7-4c46-968d-11d9aa395c90 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0d12a840-8bbe-43f1-a84f-c2ae6d9c3f87 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:45041de6-4dbf-461d-a2aa-e0f9068bff9d phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c11f6cc8-9234-4b3d-9544-628b8f68009d phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:23199619-49a6-4308-9c11-9e57bc5f3574 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ae4a6b62-ed8e-4faa-985d-1d87e02ffb22 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b48535ed-69b7-48f5-8fe2-fa180b241c20 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c4e2620b-9140-4094-8742-11024d6e2c93 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b9d715a2-a234-4e2c-8b0d-903351f1eff5 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:19d85386-5b3d-44e1-9e3e-356550981d32 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:97769d6c-fac6-407b-9f3a-1a6eb5c177c5 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7737f3b4-433f-44da-a55a-7b4b6e1e916c phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b2fb0278-2a32-4aa6-aa6a-f001244f9dc3 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:58384113-0e3e-4faa-af30-67a6067334bc phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bdce5276-168a-4c7a-8b67-63c84bd96d2a phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f127e31c-4289-47ec-b96a-8d43b8c90fdc phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d865b777-cc3f-4d91-996b-6d40e37b1627 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:62687a6b-0393-4f4a-8d4f-e77c7685b3d0 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e7adefe9-61e1-42ce-bf43-d071fca532df phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8481431f-666b-4cfb-91cb-ac6a105a3b2e phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5d77cca1-874f-4f9a-9ab5-c9acb340095a phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3b771309-7f3f-4965-b0b5-f2bb526c7f2b phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b727ca15-56ab-4a6f-9f09-2be420a4384f phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c0d050a0-85fd-4c6b-98c7-5289f5d55ed1 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:80ce7792-94fb-43bb-aec0-c7654c2f07ab phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a11277e3-a2b9-440e-b69b-896882cf081e phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:94277549-e75e-4d94-b072-b7c149ac2cca phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1a7787ed-2184-4bbd-ac0a-d2812056418a phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:13ac670f-ac1d-47fd-9639-52c2d955a04c phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:6d5f2fa2-acbb-41f8-8fe2-c34724a0399a phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:f631feba-a582-4852-9ea4-2fb6d47621c6 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:3c3ba283-61a5-4369-aa22-916d36a8f1a0 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:24efa75d-6cc2-4f8b-9055-dd40ae5c51d0 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:aa0f257a-65e1-4fa5-9b7d-1d00ea05b694 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:a4eafb6b-2dba-4461-9563-fbfc602b65b7 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:556fbba3-b8aa-4567-bcf9-92c70e4c9087 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:5c70039a-267f-4316-8f5f-5b9f49d45c8b phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:46594b19-16c1-429d-8857-2795246d131b phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:fb290271-ad9f-4304-94ec-815c393b6c65 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:78a032d3-b41d-42e8-8d64-6b0ba16cd520 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:51720b84-5b0a-4962-a534-91e63e00ef8c phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:f369b4c6-8a8b-41c3-a0e2-05e17d9e6913 phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24220024 uuid:437b6628-5ceb-4d73-850a-076cff582c9d phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24220024 uuid:dbdfd951-57b8-403f-beb8-1f984b854632 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:554ed590-3cff-40e8-b044-aedb4729620d phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:b71bc398-7e1a-49ab-b183-64c977261539 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:26e883b9-fba5-460a-80ce-3b67d30e66a0 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:1aca4603-8408-49e3-9e24-a9dbbcc4320b phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:2b563304-ee9e-4d1d-8ad2-0d51106563c3 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:3bd8e15b-7d60-4fd6-b367-8d5f1b4d9d70 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:5bc224c3-3570-47ba-b94f-3ce64b57172c phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:d7997337-5be7-4e2b-b98e-a185b1ff4df7 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39188477 uuid:373807d1-8fc1-4767-a559-faedfb391252 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:6836b63a-a895-4898-abff-81b71a81cd10 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0011645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:8a539346-3d33-40cf-83ba-0bc30185d8eb phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:5869e306-3354-4397-9259-04929d9b3081 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:8d5d44cb-0c8d-4e87-89cb-b24648eb691d phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:83df859e-466b-4db2-9e85-d01bc9ef8c99 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:2f40b322-e5b7-4d80-a7ca-d4bbe1bfb096 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:b1a4193a-1549-4ec4-a842-228870c49c60 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:dcedc3b4-2aff-485a-a7dd-9ac580d67bbf phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39188477 uuid:f2f0c7cf-a582-4555-a793-90014c548e00 phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39188477 uuid:717328d0-c1c9-424b-9ec8-bd6471dfa9db phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39188477 uuid:24671816-76c2-4f42-be53-c96d4fda36a0 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ed02f0da-1045-4ec1-840b-02216dfcc1ef phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9177f3b5-8b3a-4371-9d01-045740f3c88c phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4b335323-53fa-412d-bfd3-de7db0e63a01 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a44ed940-4099-477c-92c0-d65bd45bc427 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:aafaf6fe-f3a8-4423-84ea-401e8e95c673 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1f2dadd8-7ecd-446f-902d-5f967c730c00 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:05d54952-6c20-4cd1-853c-548adfe38955 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d58ab2df-13c0-402e-bacc-e9879979d9cc phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:fa3a17b8-58be-4d4e-afd1-a13c562fddcd phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:63e16128-85d8-40b0-935f-5ea13fb41b01 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7e416b2e-643c-49cb-ad0e-232fa84f631d phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c068357a-3b51-48e8-a425-70be251fd79c phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:af6da2c3-3205-41cc-a814-7b4db8490635 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:38d2a690-9da2-4547-8008-4df86ab002a1 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:01fde839-7a19-4f94-b7af-5d5639d4c826 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c3abb035-b95a-43b1-8eec-fe51615761c3 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:64b29763-e6ef-4e2e-b0d9-31dfd1d3d003 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3946cdfe-51e1-4769-a27f-00b299ff6f83 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3f9909d7-915a-4fc2-a218-0b8b96935587 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d0ec78f7-7ef0-4522-a4d4-6ca26313836f phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:41b5e09f-351a-448b-bda3-d80b93e017f1 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b4bceb24-7144-4f66-96ef-db581f37567e phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dc68a46d-82cb-4350-a37c-550330901510 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:84ef7a06-cb1d-4cfd-9ca3-ba931b96206e phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a1cf076d-7ebe-4a04-a1d5-a050eebaceef phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9af1d002-98a6-43f0-b858-0671452f974b phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e6b8026c-db3c-4c74-83cd-a18cb9a1ca29 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7acab7a7-d5f8-4adf-92f2-f4054b1afa25 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a6c4dc74-9287-40be-9a70-39d41f230a52 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5c191ea4-9bb1-4d74-88cf-436282ae9658 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:6bc94120-40b8-47d8-905d-c3f83d35bd6b phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7ffd79b6-0905-4b6b-93fe-173f70929cb3 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2a6bfc65-af8c-4e5c-a7fc-dc93a426c5b8 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:037f96be-0f0f-49e8-9ac3-32b6071830ca phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ecb42a37-6e21-4e98-8cfd-02a3cae20d29 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:5013231a-d4ce-40b6-84a3-501000bb2c01 phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:335cf4f5-487a-4c7c-8167-7e63ec9da0cc phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:bcee836a-8e8d-4771-8d9f-a68c143d367c phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f42f194c-3d06-44da-866a-079c5c6e7dab phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d098ce74-d0ec-4460-b295-a1dd7c9f9f03 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7e43e75d-23c9-43d1-a6e5-a91e8987b005 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7bc302e7-257e-41e2-b4d2-748ba5630608 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:30f733f1-9709-41cf-848d-d8acefcdc616 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:927161eb-97f5-43ef-98e8-bea5ed0e8a80 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8beaf039-a2d2-456b-8a11-7201c31a965a phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4ce4fd44-53c9-476a-8527-9b353cb4f376 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:af135cb9-895f-499e-85c0-3e0f1e8bd6e9 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ea99eb8a-e717-414a-97dc-5a2679c9df78 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0a86e6ba-2eea-4c49-a006-e9629efb700e phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4116c331-9a8b-4687-91fd-20884035c1a7 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8597436e-1164-45c7-8048-ba7c548430a8 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:60fc7f9f-cfa7-41fb-97d8-9956cbe1dc72 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8746b4bf-cefc-4976-b9f5-7fd208a2dcf4 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f60b68cc-4cf1-4fab-ab5d-5d66c493fe60 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b4561a61-3407-42fb-a29e-2e699b05dabe phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:817976e6-5c3a-4243-8a00-aa645435c187 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e36acfcd-6370-407d-955f-00606326fa0a phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8cf94d94-d904-44ed-a8c7-e6d9266fddd7 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:647f9106-591e-459c-9f96-d61258f2b05a phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:17597b29-9433-4433-bc1f-e0a6cd96235e phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e2472641-096a-4288-b12e-8c5c542a0608 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c92778e9-eced-4d31-8ec6-637a2d2df114 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dab36254-eea0-4f40-b7a1-01cac96fc75c phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2aa5072e-2bda-443a-8752-eeaad8b49136 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e4c5d799-506b-4f9c-b7e4-be5dfa78ee67 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ac711b4c-9e6d-40a7-9ac1-7333c152e853 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7166aeae-e491-4633-8169-af709ac96a1b phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cabe23c0-efed-404b-9374-bf76048e7c93 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:01277f31-6ed1-40f6-950c-ac2252808200 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:dcc4511a-1824-467f-9de4-a1409a2bed3b phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:81ee9883-7b40-473e-adb9-25ec6a307f4e phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:673d3902-eea7-4ebd-be80-b2b88a6d8490 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5ff87dd9-7eba-4204-8aea-9d9a234d2f96 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:683252d0-cadb-4c4d-a2df-ba135eeed416 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b82cf0a5-5ad9-4414-bd68-dd967841c776 phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:6486c97a-9c93-4b5f-94ac-4a135067fb1f phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:5b32932e-dbb5-4384-a124-3e2533dcbff3 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:ff81c82b-63d9-4712-94d9-656210633905 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a5c60baf-dd04-477a-a338-0c79544d7fe6 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f0f2ff46-042b-4484-9a18-aa68176bfd1e phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:b05f910d-ab35-48a6-ae34-1d4dc07b1693 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9c89b71a-dee2-4f91-a96f-baf228389353 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:8d4da467-58df-477f-bc2b-31f109b58e2a phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:e34fe365-0116-4016-b45b-3339220dcfb1 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:1c031f2b-33af-430c-b20d-2325528628be phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9213cf00-b8fb-4070-8927-4c99ad2bcc23 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:fa87c407-92bb-411f-beff-fb4b51e08db4 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:291365ea-4e1c-4e55-a5b5-9ccc8cf11ed0 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ad8eb26a-0b1a-4cc9-b968-bf497992b1d7 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0345aa61-2dec-42d0-966c-75adbf7c3d86 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:72abcf46-1289-41c6-9793-0cb0846daa9f phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:59dd4d94-59c3-4201-8821-3a641bfb035c phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7dcd75d6-4082-428c-9bf1-85e764a997da phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:970043a7-f17c-47b3-b78e-2519d5c7e54b phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:fda613ef-557f-43d2-9b86-fbfbaabe1ec7 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:caa721f4-27d3-4a7e-bdfa-6d1e1d65eae5 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:1ebe8964-cd9a-4c8f-ad33-f1ba591e9b34 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e50f643e-4b01-4ef9-850e-df943ca7b24e phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:716b0aef-1e2e-4cc9-a090-34544555c4ad phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:bd70de41-9287-4b48-9510-cc80aa99934c phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b42ff6eb-9bc9-4696-b48c-26176b9ce8f0 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:06b011b7-be0a-4c2f-82d7-fd8f233a0f8b phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a5477b95-bbbb-4f6b-8126-47708304191b phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:00ff0e1b-292b-48ff-842f-81d10575d637 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2babe494-278a-4773-b8f8-2d0a7cfd9f99 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d4ec8c2e-1030-40b0-a6e4-feb52d657d2a phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b4628aa1-cbc9-4015-a877-bfdd9c919513 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:95066454-bee9-403e-939a-37d34f6870a2 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:87df97ef-d6aa-4b93-8772-1ba35cdf28cd phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:aa256da0-8de8-4173-a974-faae1bf6c220 phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:cd80b5c5-aae6-4d87-850d-91157094140f phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e81d9614-fc5b-425c-8a98-59a9682058bc phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:e7e7256c-6da5-4e8e-abe8-b4a267ce25ca phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:c008a7ab-9e45-4003-8476-6ff83d34e54e phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:88bc04da-bdaf-4b0e-88b0-e7a3fef0fb37 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c1a502a4-8d90-46a8-9266-26557b1aacd9 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:5c29fdf3-aaf5-4ed1-aa01-f972d3c31fc6 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:05f6d867-e689-4a9e-9136-65e1e03fbb1b phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f6344834-5033-490e-bfce-d67dc8c7124d phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:34529d53-1b38-456f-bd03-db425ed80741 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:44c40e00-daae-4c4c-a67e-269c01406ef5 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:982f49a0-14ee-4cfc-849e-9037cfc1fc21 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ba2d5464-324c-492e-ade4-2d250ba1a978 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:da63ad87-e76e-4b6a-87c0-29c10111bb16 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:aceef13c-c28e-48b5-b8dc-82597daaa5e0 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4f22982c-acd0-4f1d-99b9-0413afc1823f phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d99946e9-5eab-4f3c-84d1-cdabe77d8a37 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a7fbb17f-8302-4297-bb3e-862fcaeb2277 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b9c5d3c1-111c-4e65-90fc-79d41b46db98 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:da50af53-b1c5-4ec7-82fd-f809fccf5cdd phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:09ff0e26-9360-4518-9ff4-e70dacb73fff phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5ac75b19-0b5a-4443-9f90-5c5945083859 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:20937669-5b48-4c3e-b658-89247f4b025c phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9f28cd53-30c5-41f3-ac83-1fb14e1728f7 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f4c29b79-8b2e-4b44-8c9a-b0a5f455c0c2 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cf8603e2-3fda-4740-bab1-a564452a669b phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fab10472-68ef-45a1-9c1a-91489b3fc737 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:677645eb-c3e5-4059-b4fd-21c06c087d3e phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5b8b367b-f450-42c9-b546-63930ee790ff phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a9126ca1-e1e9-4bd8-8752-4b22d20a5e78 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f668fb85-c8e7-486b-878b-a8f508ee4ddf phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b8f89c5b-64bc-4138-8d71-e1899ca925c5 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:059c18e2-8e3a-4c3c-afba-24a11c471185 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cc3cf2ff-1fc6-4e77-821f-31fb021eaff4 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9d6f0ead-0221-4171-a074-4ba602a4873a phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7dbce309-dbe2-47ae-826c-20d4f3672267 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f9ab320b-5b74-47f6-abb2-237d7ac6eced phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f6e130fe-a6dd-444e-94c8-6ffd75c5f2ea phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cdc9bde3-1490-4fc1-8bce-5486f28d8392 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fbc4cf18-23e1-48d8-9662-7279b4ddff1d phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:71729b84-c5a4-432b-9a9d-cfa0e8e4160e phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f69cc449-5d9d-41fa-a154-ebb7b6f00b8d phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:ffa64309-5471-4746-8f94-3949622d9ca3 phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:85515322-e1fc-4a4f-b234-c5ce513b30cb phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:27146836 uuid:d51bc6c3-1e30-468e-8aaa-45e31e377bd6 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0004938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27146836 uuid:bbd22c4e-0c80-4821-a6b7-40a2f7caf6b2 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27146836 uuid:4e177435-37a6-444d-ad72-03e13541ef8c phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27146836 uuid:b74af4d5-3612-4737-95bf-c7038a2f6ef6 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27146836 uuid:010c099b-4a04-4d21-b73f-3ef0fe895143 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27146836 uuid:583ae581-f579-41fa-9c8f-7f62e55d3359 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27146836 uuid:48644711-54cd-4728-9144-b74400403f43 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:8222f028-3c8a-46be-b7de-c115c884c1a3 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:c1138a06-fb19-40c1-b1d3-1f996b37d4f9 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:cc65b9d6-d9c6-4f5f-ad9c-a34eed2d85a9 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:1c8f97ad-f2fe-4bd6-b6e1-14fef8c568c8 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:d1d14ae7-732e-495e-9825-c3f863f5c23b phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:78347d8f-5e4d-4c6e-9317-c396b696c277 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:00649b1b-5750-406d-be02-1b3c767b878f phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:3a859f92-038d-429d-9271-3fed505b2569 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:109e9384-2b8a-4e0a-8c29-5774982cb7c3 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:a637c9ad-02b1-4aa0-8e8b-cffba8ca0a0e phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:8751882e-e846-4877-9b31-367d59871e4b phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:5643e5ab-4039-49bc-bca7-57a9bff93663 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:b78618ee-0ec5-481f-bb8f-13f60f18ffa3 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:ed9cad8b-5238-4f04-9739-a79daad872d7 phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27146836 uuid:e285303d-5fd7-442b-9c13-1d078167725a phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27146836 uuid:f17ddbd8-f349-484e-87e0-8e41b3fe851f phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27146836 uuid:4ebcc27c-070e-4a99-9211-2c89f2be6958 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:9b467d8f-c7c3-4d4a-9982-e2d8507f468b phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:ff1bb800-fcd3-4e36-a8a7-b71fc45ee3ed phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:a0bbaff8-adaf-4417-8a61-abf67d560dba phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:3b6eb229-cb99-4305-877d-5a5e5e209662 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:08fa9958-d506-4965-b717-8818908b5b34 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:ac4dfcea-8d23-4a9d-8cc9-3c74ce36e336 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:84064ff8-802c-4845-9856-060a939838c3 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:eed03e7e-c884-46f5-ba85-d5537a18b3d3 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:c328364c-44ea-404f-a427-8b161e62cee5 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:09b70a53-619e-4835-abac-d1acd801fe26 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:e424eb19-a537-4a4c-b690-c6c0e4e58244 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:c61f5359-2209-42fb-97e6-632e87bdfc65 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:7e0928cd-19ee-46b6-bceb-bf7e00bad599 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:00f7a64f-2909-4a79-914e-512ae1abd416 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16283890 uuid:b17ad6ad-4089-4858-aa5e-6e1d169d8846 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:29528a58-e817-495a-9613-d113f375067d phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:40927542-56a6-4c59-91df-f6c351ce6ff7 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:8b8cd522-731f-46bc-8c60-60e010cf65fb phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:6e970ccf-0aa0-4466-abb3-d3d19a6f9e08 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:9ff36635-8dc1-4002-a53c-a1fb748948b1 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:1ca123db-9a6e-4b3f-9293-2e56ac38bc94 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:322eea6c-5553-4627-bc65-43bcb673e979 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:b25709ff-2d08-440d-947e-ead82bd25b90 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:144912bd-3097-448d-ad8d-688f74a4d4dd phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:21b1251d-1eba-4919-98dc-76731cba56b4 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:62748f90-bcc8-4dbf-9a30-0b77779b9a36 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:7e262939-0967-4b91-9e58-141e0b529bd2 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:51779a63-23b2-42fa-aab1-0b3dbed3d6ea phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:b9969015-3d59-4348-a225-2e1cddc9bb63 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:a9d925c7-bfe9-4080-910c-c6a2034e8f6a phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:a13e8c18-f59a-44ac-93dc-6dd4dea198a3 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:0548219b-cd29-406b-a94c-8ee75a8d2943 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16283890 uuid:23b6a71a-4a43-4955-970c-4ba1677d4c25 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16283890 uuid:e87cdf77-7fd7-4a77-a302-90041a9c8931 phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16283890 uuid:1d1cac20-13a2-43c0-b3c1-39859e8dee53 phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_phenotype HP:0011645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33209733 uuid:1ed01561-e382-4d01-8a40-d98cf2f64b44 phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33209733 uuid:f0f902b7-29c5-4909-8d00-51ac2561a3e0 phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33209733 uuid:85400902-3f63-4d4b-ab96-3b453af3a55f phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33209733 uuid:6128c004-ea09-4f4c-9613-d6bb76abcb60 phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33209733 uuid:c0771d73-fb1d-4a7b-9011-d536281be4dc phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33209733 uuid:11202833-03bd-4492-8e36-0b868194e2a5 phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33209733 uuid:5f128c4f-4cc1-4741-8c0f-bad8e52f4f54 phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33209733 uuid:d4294943-045b-451d-aa4c-a7e8d475f2cc phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:aac3b95e-6014-4517-a1e9-0fd596ffc125 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:f0ba92b3-ab9c-41d1-964d-0b0360289ccf phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:917c5efd-3466-43d5-b139-b13db492f37b phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:053ae929-3526-4620-a308-19bbc2b7a79c phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d391cd18-f338-4948-898a-802bda4ce15f phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8f1cd895-2b58-4325-8189-70717014c5e9 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9f9a3e25-a314-4a79-9326-83a1a0a5690a phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:30c4da41-c8ea-4d07-9307-34a68b85c68d phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0c864a81-d15a-4a8c-b712-92bc90d9736b phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:2f91a463-7edd-415f-9be7-bea8cb65a533 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:68a08cb9-d9db-41a2-a27b-f8c29dc128b4 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1ff304ca-04e6-4e23-983b-d06a56eb5b72 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8a002595-b410-4c4f-b123-5019b8dbfaff phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b68239fb-d391-4ef8-83b6-3c61e931d855 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:059aa633-a6bd-4bef-b691-69d525566629 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:979107bd-5657-47e3-ac33-942842b7e362 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:43ac3c65-d49c-4997-8ed5-4ea991180e57 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1ddb49a7-b459-46db-bb92-1f42f8ca1838 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c97549e5-da24-46f0-a752-b864118d0030 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:3b054fec-3d65-4b0e-acbe-58c05d7a51c5 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e1bdb4f2-5bfb-44e7-8f1a-a20d63d6b613 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b915c3c6-7c0b-4a06-b59c-e68d1357fde6 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:472314d9-3863-4033-850e-d4b63a73b935 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:67f6f6c1-835a-44eb-9b9c-6dbf6e210950 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:097d7939-d97a-45a6-b314-524cb9a7d5e1 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:94a6ebc8-059c-4088-947a-219499ba845a phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:c72f4784-0d24-4ebe-8dce-7eb1c6afbd7a phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9c6b0864-b4c4-45b8-acc5-8a906bac0c64 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4ddb1f4f-bb91-4181-840d-56ab67b2c7de phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:86760b25-5181-44bb-886e-e2856b586829 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cb10ef66-f7a8-47b5-ac08-5fa84b834685 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1e6cc4e8-e9d2-410c-ad54-2bf1b59ccc65 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7e5d490c-7f25-44dd-a3e6-0b83b7eedd08 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0d787bfc-4e20-4396-a352-b79b1349569f phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:89adff4b-05dc-4394-ac9f-1b63db506e65 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9db5af20-6e8c-41a2-8ac0-00e8a5374457 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:468b912d-3fc8-4434-a6ff-36966b789d88 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:86955a7c-1208-483a-9fc4-ac0de80b6b6b phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:22883f4f-e22a-42a8-9b35-a886822e2792 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:0daafde6-ed53-4dc7-9f45-c65c3f55b9e8 phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:84d07cea-0f2e-4833-a5b3-9f2e77b96954 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:9a73bf3a-a064-49e7-96a4-ca40766a2b50 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:c8b7fd24-48f8-40a9-bd89-bb4bc3c2dd95 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:5f178929-081f-4f98-bb76-60f5c3e0e9fd phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:fde3579b-45e4-47a7-86b8-2ecc3d88cad3 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:cfbd298b-a831-425a-8005-5dfaa527dee6 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:3755d88b-51bc-4060-abf7-96dbb95801ee phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:b7f0ee8f-dc08-46b6-a896-1ea1c4b8d0e9 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:c2c95d44-090d-436e-b807-4dd18ac402f1 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:22bff166-54c6-4739-b5a9-f294a06bf6d0 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:45a82d62-cc91-4577-acb0-e9d4ec28b039 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:64cb82b9-662c-4876-b09e-0aeb85bb42c4 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:d21e70a6-3b8f-4850-97c8-f5669ec8bc75 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:05164a23-0159-4ade-a7fb-00bdaf899b48 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:c5535e4a-651b-46df-ae89-be6e0e341eb9 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:4b306bdf-ed69-4dab-9afe-d31f91303f27 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:aa3bb33f-e0e5-4624-aeab-cd8f8058af22 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:6e144e52-00e1-431b-91e2-3623efb05347 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16251899 uuid:46d4b71f-355e-4f0d-9f7d-459aa05b4dd8 phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16251899 uuid:c8d3e807-92cb-4b77-ad6b-f4c678b9a1df phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:6f770482-f100-4eca-a885-54eda8078c59 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:ffda946e-5005-4550-bf6f-8a46ab5453d0 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:5659f578-ac88-4a69-842c-48838c98e586 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:e82f6999-8d93-4d71-9eb3-58a0e0a36149 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:dea63ad3-0f15-404f-a6b1-e50d17e125da phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:6e254021-f0aa-4cca-a75f-5704dcd2aaaf phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:cfa66754-536d-4662-9570-4e479a7e07ee phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:544ebe61-2cc7-4716-b495-492b0c014592 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:4d5a52b0-b064-4a4c-b29e-93bdb018f64f phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:a3a97ba5-2078-48af-b22e-afe3772ce94b phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:5d6a9c8a-6944-4ca5-8a4b-b439b538db69 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:75a01f27-296f-4ffb-9ba8-d319fec66e9e phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:ec2a5a0f-3f41-4f33-b22e-9113c0c616b7 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:b396812d-7024-40b9-b70c-1c805fdd2bb1 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:e1f4f187-5d4e-4e07-aca9-c2e822937ea0 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:958e09d7-2296-45d7-9f08-0102905c422c phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:fddca13d-7c45-4efc-a2c1-d27e4e92cac0 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:ea616931-6d6d-4b97-8fb8-d7fea0a8e70d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:fd43b8e3-31a0-4b29-864f-300bc1e6565d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:0bf40af8-00da-4cdf-abb1-99452d32794d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:554ce0ba-b4dd-4471-924e-4c2d378b933f phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:d2f6bdff-5d3f-4f59-bfda-8e38bd12b599 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:6c6e632b-40b1-4519-a031-2a7f29cd8d98 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:638f9ca8-0d00-44d2-96c1-78588d1b1c2d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:cb93a2ad-ac08-4804-b3d6-81d25283b3d2 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:9ce5daec-f040-4994-93ef-bb1281891b39 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:65612d41-0254-4a5f-a0ac-c5f49a999039 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:37326c53-fd92-438a-9ac1-e5a465c60c85 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:2dfb006b-cc54-4f93-9e8a-c2926f416571 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:af30fa4c-3549-43ca-9526-dc524cf5594f phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:0d363722-afa5-422d-84f6-b4974541cd0c phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:7020f465-22bf-47d5-a9c8-b310feebce9c phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:c1ee66ad-eb33-4721-a8ce-ec9812884c73 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28163941 uuid:0c577b2f-d9ad-4350-9f40-35d604c76626 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28163941 uuid:ba9cd0bf-8a25-46cd-b64e-4e014a6c5da6 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28163941 uuid:3342d308-e1ad-4bdd-a133-09052f6604c2 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28163941 uuid:d6e85ce4-f16f-477f-9369-d56de13552f9 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28163941 uuid:47b577ea-e7fc-4512-a35b-62fcc821238d phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28163941 uuid:556eb9ce-9091-4be4-b90a-47538a9e1cab phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28163941 uuid:32407d0c-1beb-4c93-9162-017792e7fd99 phenopacket.store:TGFBR2.PMID_28163941_proband biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28163941 uuid:f715a411-c140-432d-879b-04a8116a109c phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:20358619 uuid:01453e59-239a-4ef2-a4ef-72bfc85cb327 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:42ec181c-f7b3-495b-bc1d-a30829d5ea8d phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:8c31774d-21de-4837-bd84-3e12ba7a5c59 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:ce709141-62b5-4892-996a-015263c1eb98 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:90cc8ead-9691-4f5b-a4e1-686444d09385 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:e8c6de94-2532-4915-a41e-c5c81da4dcfa phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:da8c88aa-5658-48dc-92f0-5facce913184 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:8a4f1534-bd2b-4242-ae78-0e416bbd8c28 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:0cd4decc-d55f-472e-ad7f-87c9d6165553 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:2c9d045e-3eaa-49ef-aa45-86c7ec30c948 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:4dc91135-ec78-4cb6-bd3f-5232a0886d76 phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:36fa6885-ae90-447f-9a2b-2f5aa8a5bbbb phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:8892e464-13ce-4178-ac7e-11766d26afba phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:33a8b1cd-4792-424c-9f02-6f6f5818338e phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358619 uuid:28d89cd4-0945-4fc8-917f-1fc873f747df phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358619 uuid:1656e8ac-90e2-4774-a971-75e5026561ae phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:49b957ff-5100-4ea9-87d2-12eff9f071ff phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c215ab72-94c1-4593-bb38-36cfcd194149 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:be5ab987-ce5b-470c-8725-dbecf4b6bee7 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7fddf44f-15e2-480b-a5b9-cb02da72c3d3 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:11e7024b-df39-460b-91d0-49c34a447b77 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:875c2ce6-586b-45f8-9323-e74954e8b70c phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:36bf8456-8f30-47b1-85e1-c43f1b02c12c phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:59145e72-fa7f-488c-a312-66bff291421d phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3267d601-1497-4a89-9116-0ca2e23f44f9 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:997c2c10-f64c-4b52-8cd0-49091d5f1095 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:631dcdde-5137-49b2-97ce-ef0ea7589fb0 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:68c0da96-a569-4a09-8eea-0a5d3bf3e5e2 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9ab4e272-20be-4058-889f-0d041ddb0a08 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bb960b0b-5d10-4dd1-95d7-8ab1a2cbd4e3 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1281a70d-760b-4d89-acec-16d97aaff5ac phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a555e7d5-646a-4276-91fc-5ea2a213006e phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:614236fd-6b5c-44ed-a202-5019356849ea phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4d10cdb0-b42e-40b4-a33b-2716a814997f phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:589c3bbb-1931-48f9-b7f2-665b0acad8cb phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2824d2dd-76d8-4d6f-a39d-c7fdd1975e61 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:4e62fbf7-0dd8-4d2f-9cf4-4bea84bcdf99 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a2981f6c-0675-4a5b-a39f-8863e97a86b3 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7870b9e6-c3c6-4a19-bb5b-0c6d59f187e0 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a7eaf208-0579-410b-a88e-81c2301de7c0 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:277e74db-9146-4c8a-9b7c-a484da653856 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9b2804e4-3130-48ec-8715-27ef3973dce5 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1976a668-b4eb-4efb-98f5-808dfb068e17 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:347bd063-9e2e-4579-8915-9c3affcdf938 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8123cfd7-33bb-4368-87cc-1c409edff18b phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:23b41630-defd-42d0-a9fe-a7512790d19e phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bd9db0d1-f0e0-4591-ab6a-e4865c9d16d2 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ada6a58e-70b1-4156-9d77-b22331839380 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:36ace10c-d843-48a1-941b-47ad0db289ad phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:fc8007b1-18df-4a92-af95-4609d852ec35 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:550e9070-9bbd-4b03-a525-7e8fc8ba1fd6 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:965265c3-b254-4718-bcfb-3b77e7c6f160 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8485f20d-1c2a-4ec5-ba06-4aeda15c8c91 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:02d7f75c-7a69-48b1-bcce-a7d64f95b3f6 phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:0252ee09-ed90-4106-b4d9-ca5d298de543 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a0dadabd-85b5-4be2-b820-99ae03eec2ab phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:51c5593c-9906-4603-875a-b5f2a1febf89 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7385fae9-aab7-4c5f-a5fb-3c34a26018a8 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:855bbe7a-e2b2-4373-b297-bb575dec8eaf phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9df6f0ad-4343-4a62-a598-732aba6523b9 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:21fc39b1-02de-4207-ae88-d390f5850e11 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:bc019676-98e7-4761-add4-82445dddf4b8 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7c9fd2e1-a844-4b34-9992-c7bafdde15a2 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:37097ed5-e41b-44da-9725-454a0b649f7a phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:bba5953b-0b3e-4691-bf8d-e1d1e99212bc phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:176ff587-3dd4-4406-8ee6-7d421f062315 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:a9e3488d-f9e4-4afe-8f66-3f972d83cfde phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:8660e75e-56df-4478-ba0c-edaf76f33e99 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f3c1d4a7-1c44-4a7d-90c9-a0f7a78ec3ef phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:52db068d-1ce8-4850-89d6-6ef4cda3b926 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:99941ce1-94b2-4308-ac32-6721c01bf5c9 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:0db5af97-d2da-4da5-b059-460680e15fe2 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a5b38baf-065f-4841-ab2c-f37b2865eae1 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:99a5e590-5c1c-4275-98f8-f781042c8a3e phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:761d5695-124f-4b53-b33e-dbbc547bfa4e phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c6316012-d08a-4dbe-b028-242e232e5653 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:d8e99493-c024-405a-803f-f6dd6a3d9f81 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f969e1be-550f-4749-8975-1fcac84bf02e phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f4a321b8-d46b-40f8-8c90-697dd30cd2ec phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:bc94f363-5e41-423d-b909-2696cb527320 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:45c12a3d-5d0a-4ca3-998a-9b57d7b1430a phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6845bc5f-539e-4104-a9f0-9e36f5ca4556 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:3b1b053d-1342-4d75-83d8-d4674bb909cc phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a3640dcd-7a4b-4aa0-96a8-8d4c65ccd5a8 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9145e5fc-a891-490e-b8f3-c6feaa3d0ab9 phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:995d19a7-2a36-4383-8da3-45a6aa566aeb phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:e6b50552-cb4a-4e81-8282-59723d62f32b phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:5d1fc3be-2b5f-464b-bb96-a8c13c6ab9b5 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:e80f9fae-108f-4cb1-aff9-5a52720258df phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:b03691c7-00e2-4bc6-9a35-0f7aba0baaaf phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:6d727ff4-dea1-410b-bba1-8bbc7f5d8a0c phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:4b222875-a74e-4ad1-aa06-e353a972a39d phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:d19d711d-7648-4a5d-aeac-ce5879726745 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:c8d6f86c-1f54-4054-b210-fcf2eb747b64 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:22f4df30-d831-4326-a94a-75c1821b6995 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:c088f3fa-d503-4cec-bd99-68e7cb5758b1 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:009498ed-84ac-4b5c-9c91-27c190a83845 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:d3782c4b-5d62-48d7-bb2b-70d4c1be7423 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:7421c453-bb27-4ae5-af80-ca2852d63337 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:0c66d9ef-846f-41d1-84aa-e74b357e01a1 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:b98a89b7-2ead-448b-9d5e-6a82939acacd phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:32528524 uuid:a30641a8-6a76-4589-b05a-431243768411 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32528524 uuid:4e645e57-9103-4833-81ca-3e7ddaa94314 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32528524 uuid:86835793-693a-4bd8-9fd5-f3c234da15d5 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32528524 uuid:e547a9e0-29fa-42af-a2f7-fb85c993cf94 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32528524 uuid:3cc1e239-9730-4ade-8fa6-11af74e7d4ef phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32528524 uuid:ef82f79f-e4de-470c-99c0-2a47fc0fb9e6 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32528524 uuid:03b22ac8-a852-4868-b567-cf2ca120642c phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32528524 uuid:18656c25-e4a9-4a34-bc43-06a7c460f3f7 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32528524 uuid:66b8a703-3afa-4309-af16-b4241c468d6b phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32528524 uuid:1791c25b-0c10-4e15-8eb0-a50170dd8113 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32528524 uuid:70a6b4cb-7037-4b24-b991-4df18777aa83 phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32528524 uuid:f0c2a265-332d-4a2a-84d7-8cf765782e0c phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:0c8f2f53-93be-4b27-b806-5a7329a9514b phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:b98bcdfa-83f4-4bf4-8bd5-69cad0cf85d9 phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:c2826ff1-49ea-4a60-ad93-345e606181b5 phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:7ef205e5-ad79-4b9d-8e82-8c8200d80669 phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:d8cddaa3-ebb5-4bf5-aa5d-fb73224b74cc phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:5ed91b0d-4889-4f15-91d5-8a24d7603d8b phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:7183dc71-fe4a-4cf5-aaf0-688360ad0129 phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:8240168d-d7a4-4cea-8485-416e85c8286e phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_phenotype HP:0003414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39289723 uuid:665eedfe-c835-4a1d-a516-e42b696aacf4 phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39289723 uuid:9b0a73c1-2c87-4c50-8cbd-91c425153364 phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39289723 uuid:cae75bd9-0d9f-4ff2-aaed-32b2647e8b92 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:af27d0c3-6c5d-4f10-a738-745867b85385 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:c57b5ae5-01fc-48f8-a779-12e104f8324d phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:be5e909c-4da1-4348-8450-3240ab0faae6 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:c121b45b-f691-4392-bab6-9548522bb893 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:bf3de87c-9bde-46dd-ad6c-f3f44657c7bb phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:50bcb310-372f-499c-b8ab-f1680346bded phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:da107cfc-f584-445b-b53c-d61019ffdf1b phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:c63b0024-1757-4433-96c8-83fbc9c47393 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:14d43a9c-deac-44cc-9722-fba92e3e2a51 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:23421c3d-0c9a-450e-8de6-76881b3584b1 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:9b4edec7-0437-4bb7-b8ac-bc477caf8b7d phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:520ec9f0-e154-4512-83a4-f54d836b7663 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:761f968c-83db-4167-9e20-69cdccaac20f phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:5b0056ed-b213-42b4-8c50-108cda560765 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:ed87c6d1-2e3f-4d0d-9282-7936d44f02d9 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:6aab423c-f4f1-402b-8cca-c96410fb0dee phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:ab42e695-7ede-445c-a06b-5de353a8bef8 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:5bb2bf3f-d2cc-42be-9959-b73309ac058e phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:9dc9f38a-a743-43f2-aa06-5dd2dc87c4d7 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:562aa18f-cf8c-43d9-ac70-ee600a1bc3bc phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:cf4a89ad-a625-470b-8cb1-81bb3dd4b85c phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:bf25d8de-58ce-4a98-8c28-f0b6fce051f8 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:ef690ffb-1ca2-4ce6-818d-e8d169870674 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:c21f72ae-d528-44fa-b115-fd0737c9ef7d phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:4a8126ec-a67b-41cf-a863-fd78b0899c6c phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:943e3eaf-019c-48dc-a89c-a354e3dc29fc phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:5d02a124-085a-4a55-843d-7e223d7e48cc phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18084123 uuid:16b12ffc-41f2-484f-ace7-410b1296ba52 phenopacket.store:TGFBR2.PMID_18084123_patient biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18084123 uuid:173d0474-b1f7-4c23-bd4e-136e2836879f phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:18084123 uuid:c9d105f7-1272-4c86-952a-dee7b9ed5aa0 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:6399aadb-62d4-4165-9bfc-37f4ab895b63 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:6709ca76-46d9-45c9-9c6a-af1094a90a1e phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:f10f7f23-01c2-4746-964b-9903089bca5a phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:b3f0816a-ea6b-418e-8b28-2c146ce68f70 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:724b56de-f6ba-4ba9-8bf4-ebbc09773d82 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:18e5c11e-a52e-43f4-9e7c-dc6407478b12 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:18084123 uuid:e57049b8-1cd0-443e-a32f-d92d7417361a phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:ed368e73-e40f-4863-b385-6976b6d387ed phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:a8021ff6-b3de-4424-8789-5357f74c9340 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:5928629e-8fef-4825-8934-8efdbba2d664 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:9a7e5c68-e261-4110-bcde-6df69ce962d5 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:74c95309-3dc8-4859-9863-15acebaa4804 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:92da9e5e-f379-45d5-9cd5-003a2f3c870a phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:1d231e28-3b87-4317-8185-d38cf84472a9 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:5ec0b91c-a22a-41a5-85ab-5fde66b46d2a phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:c109bf89-56f3-4a2c-9bec-85c1bf80d97f phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:5d6807f5-8e84-4a61-9824-7cf678e270b0 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:ae6dec33-9cf1-4e44-a977-7f41e1a46db5 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:7b164317-3d6c-46da-87f9-08d71f4d83fc phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:53b7002c-53d4-4b3d-a8dd-2529021af3b7 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18084123 uuid:f17115fd-45b5-4540-bcae-ad03dd3eaa95 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18084123 uuid:2196f667-4b00-44dd-a9ad-e3b3d7ec53e7 phenopacket.store:TGFBR2.PMID_18084123_father biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18084123 uuid:6f81c65a-0ab5-438d-8522-0b6902fefcf0 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:20358619 uuid:e1fd5094-bb3d-430d-9f72-8452c266f2df phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:12215199-63d5-4ec4-a421-eddac92d79dc phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:f79a7da5-32e0-4bb0-81d8-0cb8d25ea981 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:698a7bd0-1e3c-4bca-adc2-c1fec3a4cc6f phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:7ea874ff-8210-42e9-8974-9ab9af069cdc phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:967300a7-b942-419d-91bf-2e2fc6798058 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:a7280ba8-6072-4f0e-b8bc-94059800f568 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:8c0bf98b-1f50-4afc-b5f5-dc290f6b424a phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:d0059165-c849-4ac1-a7d4-11c2b1f855ce phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20358619 uuid:1887b6e5-5434-4b33-a0ec-f1fcb1d87b2f phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:c742cbf5-4b47-4569-b5ad-fe67fcc71752 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:ee5477c1-0dfa-4e3e-8eb9-60f57cffdfc0 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:b9b3044c-cf4c-4ae2-9755-275edfce29bb phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:b968694c-2348-42ba-bb5a-4df91febf40b phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:ae321a57-2f9f-485b-9824-a4ba2b146259 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:a3b528e7-230e-4278-a501-fcd50885b86a phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:98ef7678-b898-46ca-9887-e1e147d3e54c phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:d70ec004-4d69-4265-bb4f-1d2b252fc2c4 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:6abe52d0-7cd4-418a-a207-20c9406ede92 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:f6310842-eb40-4048-bcda-6052835c3a08 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20358619 uuid:01db7801-6831-4fb5-86bc-4b02717e7357 phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:20358619 uuid:a3f7003b-b351-40fa-bec3-a2d91e549cab phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20358619 uuid:62719e94-6cdc-48e7-ae10-52ae42ef7cdf phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:7a8b0dcb-583b-4cb2-84fe-92927b19eb78 phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:6f233aec-bdb3-4a5b-890b-f41f46771d75 phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:3ffe2a53-1bcf-4518-b1eb-4398736f2b09 phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9aa280bb-abfa-4cf0-b9b7-d1d2da5147be phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:dd095116-f74b-4339-ba09-36f451ad4cc3 phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:48a7d1e7-1936-44bd-ae0e-9684e2df6a62 phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:634a4544-c17d-4dff-93e6-63cb4e093bcf phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:36328362 uuid:afa7019c-186f-48ce-93b5-e546e1baecaf phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:36328362 uuid:d1aebdc1-762c-4ae1-a97c-96aa3f656a5b phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36328362 uuid:e61df563-b504-4d2b-91fc-02fbb485588c phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:4f211495-ad93-4943-8619-7509520082c4 phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:bb9154fa-40f0-4d66-9a9d-31e3e1f36c84 phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:99309b0d-5618-4503-82d1-43aa35ae6cd4 phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:75bd5e2e-9e6c-4211-842f-85ccc9dd5f69 phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:8ecfeb8e-48dd-4485-a736-f6f46ba2db2e phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:30d9b64f-c53d-4133-bdd1-6b598997bb14 phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36328362 uuid:d15727f8-cb80-4acf-b4f4-2ce2bd69f65e phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36328362 uuid:c5ae55b8-9aa7-43cd-829c-028db36a9c18 phenopacket.store:TGFBR2.PMID_36328362_infant biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36328362 uuid:9ae6ff5c-2aab-44cd-90f1-2f4fec5ab2e3 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28679693 uuid:9e606d87-6d19-4b0e-a3ff-62b7cc17cd5f phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28679693 uuid:810966a5-4f3a-4788-9f88-437e5a41471f phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28679693 uuid:36af0fae-af9b-4a3a-a9d5-c5ebbef5d076 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28679693 uuid:d586527e-d267-40cc-8517-ee9d07bcb9ec phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28679693 uuid:f1dd1968-971c-44ea-86ed-c8a401d03c71 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28679693 uuid:f03106d3-c63d-4aa3-8e6b-e1091f8c2a99 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:64721493-a682-4b08-8b58-6d997129c876 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:cad52d89-375e-48bc-abb5-8e16671a081d phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:a45d1552-ecbf-45f6-8747-e9c65c0b0b60 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:9f43fb1b-eca6-48fa-bc00-23163fce7d6d phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:6729699d-02f8-4a1d-a34b-a1411b638906 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:ea264385-3d8f-4bcd-b065-8bbb5763fd06 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:a9ba727e-e0a6-4ed0-9d3e-b51662d01540 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:c7370742-7f20-43d9-bf27-91ace25493f2 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:ba4c616a-a005-4fb6-9916-6023702e5f2a phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28679693 uuid:2e104e62-340e-4707-a19b-8289c6ed7026 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28679693 uuid:71592667-ee4e-4f53-be89-1c25e96beac6 phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28679693 uuid:4eef0088-a4fa-46d0-b8b1-2b9623280dd9 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0d7c4da8-fadf-4258-b137-8f5e2aeb7365 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:09e83e8a-979f-4e65-8e8a-39194b65e190 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:135b2196-c8b1-4b2d-988a-4322dd7e3b3e phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:32b519a9-509a-4c85-b1c9-d7e309fa8d24 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:20d65610-e44b-46e2-931f-36e60f90309c phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:81aa12e5-06e3-442d-8efd-5afca3355adc phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:50f90b50-e70c-4fc8-bc24-72e179ee283c phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1e8b858e-6bdd-4fdb-996d-23d8e23d3835 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:49020e3a-61ef-4506-9855-adc01ca628ff phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4a982064-ef94-4936-8670-93efc1940f68 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9b461d45-69b6-419f-a951-3a8d4c0c51fb phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:ffab3617-d53f-44a9-a819-ed27f69a24ef phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:add73197-7a92-43ae-bd26-f3d626bac2ed phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c684a694-420c-4b4c-95ae-1fbd744c7ad2 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:7d72ccc8-0e28-4bdb-a79d-336919417af4 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:62d9cece-673a-41ef-b16b-dad755232f72 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:e501281f-4424-48fb-ad07-b4fb48cbc707 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:471fd3b0-60d1-4a28-b6f8-951071cea874 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:eede29af-c3b5-4fb8-bb31-5cb7fe25100e phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cda4f81a-9368-4e97-a5f6-94552d435bf4 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f36c2ce1-4c22-404c-b7c4-9a3ad87c87d9 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b6bec235-4f95-45dd-99df-57ee254662e8 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9e0d40f4-1e19-4f4d-b4bd-4fd180b62402 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:87878910-a9a1-46fb-849d-313758f6bfe6 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:da3e4314-77c6-44df-8084-359214fde301 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8f59ac04-cd7c-457b-a118-f40c68a0f477 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:95b0ba39-dff3-413e-b4e4-2894c4694f39 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:876aef45-1caa-4e49-a573-7144f18c1032 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:35dad53e-050a-482b-ba34-eb8f37b2c8dd phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e8a5a556-d0eb-4689-8d23-dc6cfaab71c9 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f9756fc9-9a90-4906-9c45-93aad40e2e6f phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b00b9466-bd75-4942-a4e5-98cc258bc3f9 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e11eca4e-843a-40cf-8deb-8519e416e31b phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d07b9534-55bd-4fba-a614-e7aced455523 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ac7eeb9b-654f-4675-8d1c-6a529b3b2c37 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d03dc084-139f-48a6-b5cc-23080705d4c2 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bd471744-d9e8-47cd-8f09-46e72cd599b4 phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:c49e7e4c-2719-4910-b117-f4f5d494420f phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:f2b279b3-d1ae-4855-80bb-f1939cc427e8 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8c1dbd44-aaaa-43f3-84a9-dd0508e45cc6 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0109286b-2a7e-454b-8ff4-7ff77be3e94a phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:011a5c97-663b-47b3-9f81-116f0546ac6f phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:54101ee8-928e-4a00-9121-b4f9a10da3a7 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:26b8885f-f7ff-499f-beb6-b1c8c1110911 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:9ec8cabb-90f6-43d3-878f-93282798f3f8 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:da0cf729-ba78-4a34-af83-690ef5aec540 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:c07ad57d-d792-45e6-a01d-3be3b45febd0 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:96d636d7-b37c-4504-9c36-da3582c6e58b phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:b7534cd4-2756-413a-ae7a-46e13c615f5e phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:d8601196-d05a-4003-9fa6-8f4fb884675a phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:8de4b7e8-b0b4-45aa-84db-a678f0cf9113 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cede88a9-66d0-44ec-bdf6-010cd489b245 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:4661ba6b-646d-4c41-8429-db48999a411f phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:80ee5df2-1ed2-424d-81a1-3031d3e66f77 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:01f5a559-a69a-4e11-ac6e-799071ac5ca1 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:cbaced56-3bd8-44c0-8259-add8d446e26f phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0004349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0a4ac393-a503-44b6-8064-f9ccff7cf85a phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:86509217-59c4-4079-b8db-4cd96b7c142c phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8760da5b-8e49-49ba-b1fb-2ea108207f75 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:62d93fee-0dfe-47ca-9f91-99031b2c2513 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:29177bb4-5df9-4f7d-b747-08f341d4eee9 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:cf8fd168-e2fd-4840-b490-6514782eb5a7 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bba02e96-1e06-4816-ab0b-923e0a086f8e phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:7d379691-bed2-4cc8-90ca-fc6a06fed41e phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8020077c-db88-4e80-a8e9-dd8f6dce54ca phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:9d03d1c4-aba5-43b7-9912-f2d0413510d3 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:80ec33ea-00bf-4349-a64d-460a6ddb50fa phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:19c4b78d-17ed-4fba-a0d8-0d876e0af1d4 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8bc61f21-9347-4cea-b529-c3b3fce4fd52 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:59dead2f-1f84-47f2-8b03-7471746bfb49 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:df761a3d-1170-4c0b-805c-6f47b79846d9 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f0bc8533-bdf1-4fa0-a56c-a7f563744ddf phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a3ab87c3-136f-4544-a379-f8bb3ec2cb87 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d422e6db-07e8-4abf-9df6-6ebb073b8375 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e3879a92-6516-45f3-a34b-ddd36d8b24fa phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0002758 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0962bb89-cbc5-4a40-b4d4-29fb4dba7745 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:279f88be-d08f-43ab-8cbe-253b69d9bdf5 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b4fb57fc-5784-4a5f-a017-1f6fdc69c308 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0a22b6b4-e6e1-4e01-b168-6dd7b91783ce phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:9d337f61-c800-4fe6-b6e6-5faa7a75ac28 phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:95623468-5884-4598-ad97-154266457977 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:807fecd1-b52d-4699-a5ab-77d43001c9ee phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:46447f19-1af0-4f3f-a178-b1cc06b99c4e phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:091f74f0-925e-4d60-9b6b-2eba73770283 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c6d16120-fd09-4818-ad99-746858c059a8 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0004959 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:99afb4ea-8d54-48ef-9202-329ec9b687e8 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:4473412e-39c0-4e6a-8c99-9b12184631fa phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:55cba958-463d-41df-8fe8-514f3a474413 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:aace49cf-d1d4-4a70-b894-59bdae7d5eb7 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:dcba3794-4c11-4e49-bebc-2b08bc3cfbe9 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7cd6d924-9850-4d8f-89df-1610ca1f4523 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a83af2b3-3345-4e2e-a775-654cb0b1253b phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7f2dbcd2-2ed2-44b6-9664-fd443233c69c phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:4d8ef024-00d3-4bf2-847b-3ec5530d1769 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:9b30fce8-4926-4738-a91e-26ada3026f59 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e7e57075-c67a-4eab-9121-986db37e9878 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:24a8ec2f-5209-499a-bcf9-d0270bba6e30 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6a2a74d9-c73c-4b4e-96f1-a7bfeff66f7a phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:1f8b6b9d-9088-462e-b0b0-f49268fcfcf2 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:6003ae67-bf69-4af1-b02c-44900fddfa0b phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:bf721495-c596-4cfa-83ad-16ee865b9470 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f62240d7-e35a-462c-85ac-a78add0dab4d phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:cd823e9d-979d-466a-ac4f-4a4c467da851 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:56c765a5-5987-4463-8292-651dc1653d4b phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:e47c2bdb-e16a-4de8-abf1-228fccb846ff phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:43b4911f-28c8-4d89-9e5b-116010247724 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:08c47438-0c6e-41e4-ba04-0b735bddf6b0 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:3fdaea84-a988-4930-a1c5-073c7814319a phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:120918d5-6a3c-414c-acd0-47d7c1d32734 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:b84adabe-4d3a-42db-b992-6cf5f76de8fe phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:71b4c256-e06b-4fa5-9cd0-1ba3732db0c5 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:c21f9c3c-c38e-461b-9428-77075d3e5d42 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:065285e5-b0c3-4c60-9d0c-5c85e092ee74 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:77ebfd28-5a63-4fdd-8f59-63c8f120eaac phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:ca46ba8a-6272-4dd2-967f-70afd1434cb2 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:2563b330-ccc2-4581-a5fa-b540b3592395 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:5c1286c3-17d2-40b7-b673-854d4c0a46e4 phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:5ac2a583-1d1e-4641-ad7b-86a3497f4cc3 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:52cabd65-f052-414e-aac8-fd61d7ab5c12 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1b615d77-2a94-4ccf-96d2-4eac7d77c34c phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:940d8d9e-c4d9-42bc-a59f-8b94bf8dab62 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:aea1beea-3ce1-4735-9773-bac164396942 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:3d2f7102-ea23-43ae-8428-5f7c834ccd22 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:26a39abd-6cd8-46c5-bb1a-b23b5036242c phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000977 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:6fad27f0-0671-4d98-8921-dc5389963b19 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:98516ded-b351-4fd6-9770-e8158ca3ac38 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:1f52b060-d6be-4645-a2f7-77a6b550a604 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:0367b34d-0104-43e9-9c7a-64b19dddfc43 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:250640e6-eb04-4420-a77b-bc3416669db0 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:a08ce1f5-1b28-4ea2-949b-7d435a2ddfc6 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0002619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31569402 uuid:98dc02fe-7c7b-4952-ad30-391df4374994 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:0af07cfd-2c46-444f-b2dc-c9c843978e3f phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:bc107b63-c88c-46cc-9477-8317ec28e4ed phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:417fc722-0c30-48d5-a176-71f0466c3e4e phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:f6f326d9-2455-499d-9c62-a92cffa3dbcd phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d3fa20f4-bc6c-4276-a434-0bbbe634dd8e phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:97f4970a-e791-411c-ad3c-c164afe7277f phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:1794d970-f42c-4f2f-85b6-95277e331f07 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:a315355e-4b1e-4896-af5a-67bfb426b694 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:b52c729c-b4fb-4585-8e0a-cc09d53d1d3e phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:2b35d7fc-bed3-41c4-be4d-471356bc9c1d phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:308bcde4-111f-43e1-94c3-6205781045ad phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001056 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:43fc49a7-dbd5-4dc0-8bfc-bb75cf3a365c phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:789d8b7a-7de0-479c-a59f-9128d779ef0a phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ee8359ac-65d9-42e3-a0da-6f50bbf376fd phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:ed538e95-9f64-414d-afd6-b30c78542097 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:52eeb03e-8dd4-4846-aef8-d13a27a0e5da phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8322a963-e62e-4051-8af4-52834ab6af81 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:5d1c2238-4f1c-4fed-bf00-5f267427df9a phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:42926996-bbc7-4962-ab14-a1cfe3937923 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0031869 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:e28552ff-1a08-49e8-a288-9845314ab2fb phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0010646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:87933046-e698-4969-a83c-93cb4170e952 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0500093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:d6797533-60cc-4338-8630-b10923ce79a0 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000563 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:94c84077-2dd6-4fcd-8548-35b129376e22 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31569402 uuid:8c53d59b-bde8-4105-9847-53a930c3e698 phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:df776e2b-10a0-4c38-9349-dd2b357231ef phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31569402 uuid:7c7a5369-2a24-4323-be48-f824b4dbb27a phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:ef2703a8-5019-4385-83fc-bc9547cfc134 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:65c351b9-e854-488e-91cf-e7299edfaee8 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:5ed1a206-286a-43d3-b219-23f02e6c917c phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:758df61f-fddf-482e-82e7-07263720b56a phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:04041737-24bc-44af-ad05-a7a302968e52 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:46467e96-7063-473d-9f86-682628fa78bd phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:4b474829-bede-4c72-852e-85c937e4be03 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:676f012b-65fd-46c9-8e16-d0ccdabaa004 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:47e670ae-f7a7-4b07-8649-f3d5d54b3bae phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:74906476-4444-4e6d-8024-9d21ca33c081 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0003414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:9b2d0bcb-6459-4290-86b2-a47571543ca7 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24220024 uuid:1edba645-e0e5-4ec2-955a-db7dac361cd6 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:c0c3fcb3-e265-4ec0-a348-cbad0d631a7d phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:e6ce7e49-6f51-475b-9722-20b8396255df phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:62f72c36-471d-4ccf-b36c-40b64949079d phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:cc21a0b4-e4b0-4a0f-8b78-2dc89328f090 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:866e4650-f92f-45e5-9d5d-2258305ce28c phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:b94a1dcf-a482-433c-91ca-aafe0a7edd61 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:dfaf174a-a1f8-4482-ae87-064a384b8d93 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:c4db2e24-62da-4f7d-a404-8e67a867ef0d phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:e377f810-5e07-4973-a8ae-338ad3508b99 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:86dc35bd-60da-4333-b62a-989735ff3f0a phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:e916788f-57f7-4294-8063-35c78eabfc8f phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:6fe8973c-c0ea-4bad-b599-0ba8f841e0a6 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24220024 uuid:3ceef8f0-f0cf-4303-a822-1fae5be1a35c phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24220024 uuid:41403bf4-46a9-4fd7-862e-85da8e9fe3a7 phenopacket.store:TGFBR2.PMID_24220024_nan biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24220024 uuid:79b37d20-c05b-438a-b028-623ced22f1d0 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:21949523 uuid:681cec64-f673-4cc6-a0ff-0b3cdb7bec08 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:21949523 uuid:7f252d46-37dd-40dc-b0f2-a992b0037952 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0005302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:21949523 uuid:990ca640-bf1f-4318-b012-2a24bf35e7b8 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:44c7e431-c2e3-4a16-a0c2-7445c740eb6c phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:c407231c-5f4d-4666-b49d-8d0e757dde27 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:9231038c-407a-484a-b473-ba8f7146c963 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:65b6ad1c-07e4-45c5-88c7-6535dde9d93f phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:a6e47a46-ca9a-4ddf-a490-b299d02713cd phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:b7b61619-15ad-4583-b2ec-4ef9707656b1 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:e32bf868-7307-47a8-9646-f31b20611cb2 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:6ba86e4d-f951-4a38-92c4-2d7251f7eec6 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:c9f7d2fb-a7bb-4236-bd85-4cb646203dba phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21949523 uuid:74a20662-7154-4df6-b93b-1a799ab7f7e1 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:25af11eb-4427-42da-80ea-1fbf494347af phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:3f6e4276-860a-475d-bade-975acb85a579 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:c5a11995-24a1-444d-8503-29acd9c97c3c phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:b94f8646-a8aa-4df3-aa8c-d54c51b30481 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:082afaaf-da19-4390-99ce-6e13e26b94d2 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:62bd9359-2a9e-4bb8-8d8c-2ff2fa2648e7 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:be1ecf7a-0d8d-4835-ab3a-2aa9707345f0 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:cca72fa6-5312-422e-8fc3-454b077ab255 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:5c82b973-2ef3-48bf-bf9a-6f7aa0eb3b0f phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:381844f3-0476-41b4-9d8d-ad0fe0b1e7b3 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:2e935dc0-dba5-4b7a-9a87-832e2af09a9e phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:2b270abe-4439-4fe9-88e9-5fe4ff9ac4fd phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:2e29a090-e5b3-4e4e-8ed7-36feb3e00ba5 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:e09a4364-9aa2-4aeb-bdcc-bad7df8d2a44 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:24449eb5-e7b7-430e-bf95-d24dde00211b phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:f07753cf-34cc-4064-98b2-44af1790a0fd phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:f059b654-653f-4c7b-bf24-50b322aca0bf phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:4f288dd4-a8e8-4c21-9705-04383bd46f36 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:240814ab-4e50-476e-b2b6-7c77602c3a50 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21949523 uuid:a720a991-54ad-4d16-99f3-8f171495bb44 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21949523 uuid:803dcfc5-1735-4da2-83c6-106349cfd178 phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21949523 uuid:6d6d3146-a7af-4e05-91c4-e19150ffb81c phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:530e162c-8f8c-4aa4-90bb-43a40cb214df phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:9802dd94-f0c5-45f1-8485-1c3495870c1c phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:eaff9646-ce0a-4a76-b5d0-f736ece4dc38 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:701c0ed0-a7fb-4a5f-808e-e9eec74746fe phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0004937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f954f362-f68b-4d42-b2b4-2e35444bfeab phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:57fac708-e492-4e81-8cd8-07465c27d405 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:46d9ced1-7ca3-4f37-8660-d71a33d90572 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:93d5d409-c24c-4825-b1e1-ffa9aca70c79 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:eeec3ccd-927b-46a9-abc4-70119037946e phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0010648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:25c0f9ae-37d8-4852-aef4-1788e99c2c38 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:f1f37886-5455-4df2-a5f0-cc775ab15130 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:226b73a9-bec7-4da4-957d-1d6702007254 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:efe2fc2b-6345-4b33-9121-3d72fc63573c phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:593499c3-1030-48c9-abbd-14bbf54bbda4 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:6e9aa6b5-aa68-46c1-a5f2-21923464c044 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:dd25ebf2-5cfc-492a-870f-256d818452c0 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0004944 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:6fd574b2-861a-426b-8336-94f5a7572e83 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001519 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15731757 uuid:c97658cd-824f-4da3-b2b5-23b12e9c6d1f phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:f4954323-1586-40b2-b5f1-07b1f17b4975 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a3a16827-c96a-46af-abc8-7d3c0302b31a phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:846dee3f-1a2b-4f2a-a07d-e5a400be3254 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:7f77593e-1b88-49b3-81db-a0daf883e23a phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:5d01715a-bf25-4d5b-a150-4ee748749156 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:790ef565-4957-4a04-8e9c-38adb250c00a phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:314e7046-c5d5-4ce3-9b68-0b240e0de7b2 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15731757 uuid:a99db019-a328-4843-984b-ad918eeb228e phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:7541843c-bf6d-4f6a-b23c-0b269ffe76d6 phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15731757 uuid:3c492a93-4248-4d4b-b3b4-83fcd14f1b27 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:25bfec62-fe72-4375-8887-ae361c3ee6e4 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:5e4feceb-cead-49be-925d-46382a3a85fd phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:1a032569-d439-4c54-b3d1-779bffc87366 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:280cb18c-6389-4119-bff0-d3298c825aa7 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:a7f04062-29de-43af-aafa-963fac9a6de6 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0001065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:c2287ad8-dad7-433f-975f-bcd3acf0cdab phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16251899 uuid:2dd2a917-42d3-4222-b7a6-c531d7ff2e2f phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:9e213ec2-cc28-4647-9c9c-e48391fb25fc phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:c484cdc7-4f84-45d6-ae26-1a01ccb9bc2f phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:66b7d944-a16a-4bb7-a8f4-41515e1b7516 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:4bef6d14-5a98-4ed4-8da6-50cbe93404eb phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:bcde45d7-443b-41a5-8aa3-7ffcdb1eb697 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:1dc74568-a448-4692-966a-0f3a36feee24 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:db22077d-81c3-4982-8871-1bbf4db61b49 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:e2d11597-951e-4c06-b72a-c06e72d6b3c1 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16251899 uuid:3b8ed9e3-b4bc-4fc6-89ee-06e4e27eee96 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16251899 uuid:6bda518b-e4da-48d8-872f-5a99800981d1 phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16251899 uuid:f110a65e-edd2-435c-bfc4-fc6168e84a8b phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:16027248 uuid:faa21ee4-3f00-4016-be42-edc5e4b9de50 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:d7516bd0-72ce-4f6d-b23d-925a25e1504f phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:722329bb-bb3d-4698-a6d9-c923b60f05fd phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16027248 uuid:3d20f0ac-af0c-43cd-9c58-ab592eb6cb08 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:d310c51c-cc9a-4658-864c-3c4780b541eb phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0001634 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:4815e86b-1d45-4506-95e0-8142e69f55b7 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:2ecffc28-01cb-4391-a4bf-0e7e52d48839 phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:a41c2940-cd04-46a7-9fa9-da54d89c0a3f phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:5cbd0267-faf7-4fa1-adf9-5eb0742ea69b phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_phenotype HP:0003179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16027248 uuid:df45b384-aba6-43c4-bcb9-efa22dc9107e phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:25c167c4-a9ab-48b2-be1e-104ea0c1beeb phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16027248 uuid:64b55f25-0409-41a6-a407-cc8cb710046e phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:fd079a07-586a-4d38-a8f2-486fcc4008ce phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:caafcfb6-70c1-42f5-a5c7-294f101b94a8 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:e7fdbdad-ad8b-4e93-8e7d-724e839b4295 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:f1e9bb9c-0f0d-40f7-b8e4-151a243697e2 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:472c8df1-50c8-4de4-b2b1-80a54c79afc2 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0100775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:0d08567c-e985-4e84-b883-59db1af21363 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0200128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:d28d4dd1-1cb6-482d-9cdb-a58267702212 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:0a6942b4-f051-428b-b568-327675c26194 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:3a5a16ed-1863-4880-8186-487b1b9df2c5 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0002365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21567932 uuid:9792c32b-7f39-479e-978c-9a87d19ad98c phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0004933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:7e62320f-6df4-4376-9d7f-b44fd156d7a3 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0011645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:3a619930-1746-4a85-b0be-823c9333dbc9 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:93a2d72c-da6c-48f7-b3c1-e4d93a9e1a29 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:322800aa-e3cf-439e-a763-eed7114de51a phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:99f1c92d-0c6c-46d1-912e-97f1b017d693 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0030745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:469be323-bbe3-4665-9270-d6e53ffe8b8e phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0031252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:5b09bea9-4c66-4042-8006-1e5c96f8925b phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:06a68071-1c94-420f-a5b2-e14b4dfe8ec1 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0005182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:05c2ad6a-6a41-44f4-9190-13b40dc309e0 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:5cdc4300-3916-4f82-bc2d-c91181fa84db phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:1523c7fb-8f77-4e45-88a3-9a1472f435e7 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0005116 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:a482d34c-0d3a-4092-98da-93b85d5d443d phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:5161f848-6c0f-47ff-96b9-f722d41e5451 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:a3f38e3c-dc83-4cf0-a8b8-ad6e2df8a7b1 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:717e9b3a-cde6-4bc0-912d-77912b9ce6aa phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:1bf28433-9452-4899-8ee3-316d66345643 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:82bf9475-b97f-415d-8297-0c3cc664e009 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:a0feda66-eba3-499c-9b28-037de6e47bdf phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:082a5d8f-b834-40f5-a93d-263df1e7e96e phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:daaac4a5-7e5e-4b52-b174-7bb930c63281 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:181c750c-4326-4ff9-8284-62b040ab443f phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:1a4c1c70-2869-447a-89a2-ebd1715233d8 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:1aa6e29e-a8ad-4856-8792-f0f106189828 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:6099231a-d0be-48bc-bfe9-194f72ebd814 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:1be17e74-11d4-41e2-bff0-606c022e9114 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:520ea74e-cc69-4505-97a3-d67158253f82 phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21567932 uuid:1f818162-8c16-4e7d-aae0-db0577e7503c phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_disease OMIM:610168 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21567932 uuid:c70756db-9d01-44e0-a130-f704952fc4dc phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:has_gene HGNC:11773 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21567932 uuid:4bcb5163-d4f5-44c9-b754-732fa42e4f01 phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0000161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:91c7fa94-5c0d-4cbe-a313-fbbd5f72051d phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0009099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:4ec14a4e-974e-4cee-8f64-7fda8a11b6a8 phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:fbeda33d-1516-43cf-b4ad-2c6d38f16bdb phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:35829c1d-a5d6-415c-b344-00d1d88ea96c phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0020128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:f1d5673c-0449-4da1-ab45-235b47b1029a phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0001332 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:990d5450-fef7-4681-b8dc-3de2db817de7 phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:b23fe16f-fecb-4b81-a461-aa5c71d2d30c phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:1c797fc6-6746-41fe-9148-9208ce490640 phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_phenotype HP:0006870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16962354 uuid:a06311b6-e27d-403c-8a31-46d32258bb74 phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_disease OMIM:142946 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16962354 uuid:042fa2ac-6b12-4a09-841c-710f7311548e phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:has_gene HGNC:11776 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16962354 uuid:dee85e80-4d02-4af1-9d5d-12d71c8b360a phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0000161 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:bfd11539-efa6-4992-8f3a-51ff98f851a4 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0009099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:1024e298-21cf-4936-bbb1-3315b81c75b2 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:46f5ec07-96ea-49be-94e3-5bbb4a82a3b5 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0005273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:4bcc7906-11bd-4823-93b9-4ae73cbc6d9e phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:b46c5393-c611-43eb-be51-a723052d4d25 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0010757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:19767b14-0711-47d5-8c2c-41486dd59df1 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:56852b81-4f2d-42d4-a9c2-32927794c5f8 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:a71ee3fb-b01b-4929-bd05-5b5f7946a046 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0006870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16962354 uuid:d27e2a7a-1589-4f8f-9216-8e626106d5f6 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16962354 uuid:95b16415-1104-493a-98b6-c25ccabf5879 phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_disease OMIM:142946 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16962354 uuid:c4013cf3-db02-4f6f-874a-674dab31a4bb phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:has_gene HGNC:11776 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16962354 uuid:aaed6961-aef5-4cc7-8e78-10dcd4e85464 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:ac66716d-4462-4084-8592-6a55373113e4 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:f335a946-1b41-46c9-b159-b9442dd84f1f phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0003010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:a146be40-693b-4002-ae95-0b07311aff2e phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:820af67f-72d8-45e0-9ccd-ae2e53b03796 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:58d85c13-fbf0-4e3b-8a5e-6bc7f09f8af1 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0012095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:5c6782ee-39b2-427e-92e5-2bf9ab96fa61 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0025509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:e4e82d5b-ab73-4a0a-9922-cdf0f3b5049a phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0005293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:9341deb4-e946-4bc2-a7eb-c78da9036ece phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:6000342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:fee1eec4-17ff-463e-887e-c6165f76e285 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0005113 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:7fbcbc83-2520-4c50-a4e9-04c7e1c8d17a phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:83d4f6ae-683f-4670-9ff2-5705bba0cc41 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:73e80ffe-b5d2-49f3-b0c9-aef3f00f246d phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:bc367515-42f1-4d17-956a-52bd00db379a phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0011873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:e80d2033-cb94-453e-85d3-4e6c54a7c8db phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_phenotype HP:0032199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:bd9d2445-54a5-4ed2-914a-c9605714b7dd phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_disease OMIM:620865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38433265 uuid:de75372a-2972-4676-904a-5e81eb1d0463 phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:has_gene HGNC:11786 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38433265 uuid:f662a18a-01fd-4b5a-a69f-3a3aad453b3d phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:90de60d6-0704-4c70-9067-79107bbb0e09 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:1bb30c1d-0051-4899-befc-a34db29121ec phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0003010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:f6d0dd5f-118a-494f-9277-05989677aa13 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:bef39445-2a60-488c-902c-31ea1e4ef69e phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:4fd76081-b250-4345-9c00-322b43b657e8 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0012095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:5ec8186b-35b5-4eba-b754-ec8ca901168a phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0025509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:b89b2f25-1a9d-4f5e-a948-f0f73b48d7d0 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:0d1a8c17-dc83-496b-8898-6d6fbf2c5762 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:5c8bb74b-0ddc-4098-9c9d-184e9f59b96f phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0011873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:44ce2c99-a90d-42f9-8e81-0f97190a0e67 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0032199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:f2f6dece-7b62-4f87-ba06-62b5c56099c3 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0008330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:924216f8-aeed-4718-83c9-64be807dcaca phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0030976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:32ce6f0b-7c28-497e-b56b-0f7febfb9343 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_phenotype HP:0011898 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:691e3965-908c-4ca8-a281-a37d51784b6c phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_disease OMIM:620865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38433265 uuid:cc9da8c0-dbd6-4038-af6d-dc61351a4791 phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:has_gene HGNC:11786 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38433265 uuid:58991e71-daad-4f62-82a4-bc40503549d7 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0001075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:b3b17b8f-3bfe-4e0d-b971-59c995423e59 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0000978 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:9b47f07b-54b2-492c-88fa-750e5e8d6e89 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0003010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:66c8f83a-a051-427f-b810-db1f93f0f095 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:c5a996b5-c6c5-4d8f-9ecd-7b8e83655139 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0100550 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:f0d503b0-acb2-4b51-85f6-51c13216991b phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0012095 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:ccf0ebe1-3009-417f-9e18-9382fb60bcda phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0025509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:99545e8a-0ce0-4294-bf3a-bfd9c6a4a73f phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0005293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38433265 uuid:a0dc2dd7-57a5-427d-8608-095c738b3f60 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0000974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:387a215c-ded8-474f-9c57-d251e8db0380 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0001638 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:d7f43738-e045-4568-8881-351949a4d019 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0011873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:6111742c-039f-48b0-8648-b0ca9b0a0ec1 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0032199 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:0a39a2f8-6671-4990-ab08-d91b5e93f84f phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0008330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:eb56f3d0-1ce2-4483-93aa-6ddf21ad92d4 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0030976 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:3635fd64-814d-4eac-9c56-29cef76d3de3 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_phenotype HP:0011898 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38433265 uuid:896eb630-8c8f-4366-aaa4-0b82596af624 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_disease OMIM:620865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38433265 uuid:edfe6e7e-23c2-4221-8c06-95b643a79577 phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:has_gene HGNC:11786 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38433265 uuid:e8e1e20e-4ac3-45f5-a0ba-e1bcfa06c8ea phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:32beb4b0-9bed-4735-9220-a952355c81e7 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0002745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:9c76b80c-6c89-475a-a1d4-b54cdd9c1bdf phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0100792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:ccebffba-f02f-4fe0-8a54-4f078f21b9a3 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0000962 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:156c84fe-ea91-4768-b67a-077b35aed533 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0008404 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:6a901675-2be3-4be5-a9da-4b3608c208f0 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0007427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:658be5ba-e307-4457-8f0e-691558ecbb9b phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0031631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:3a259bc4-95a1-4818-adc5-feb70e9343f5 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0032969 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:8e58aed0-9fbf-41e9-8fd0-f93234e5fe18 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0002206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:29742735 uuid:84780772-6b49-4ee4-80ce-564ed8de5203 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0002875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:29742735 uuid:5d8ba15d-ada2-436f-958b-2df6294ac7f9 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0031246 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:29742735 uuid:57d155f2-694e-49b4-a8f0-2ecebb5f435b phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0002664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29742735 uuid:2b81392c-cde5-4318-8888-bb0126aef873 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0007898 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29742735 uuid:285d49f4-9182-4d33-95d4-37c56463e6b6 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0002721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29742735 uuid:b52fa902-1a2e-4445-8bda-c0e10afc7f10 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29742735 uuid:a57a6060-0bf1-48af-b908-47f54fbfe8b7 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_disease OMIM:613990 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:29742735 uuid:8da453ef-baf9-44be-81db-ae8f5468ebc2 phenopacket.store:TINF2.PMID_29742735_proband biolink:has_gene HGNC:11824 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29742735 uuid:5f4e2f1c-9888-4241-bb02-61f7496f3f25 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:30658709 uuid:84621eb3-1a72-41ec-a6a3-bfdb0782dd00 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y11M infores:phenopacket-store PMID:30658709 uuid:a0b5a4ca-d106-418c-874a-af3accc1268e phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0003573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:5e8ca791-0218-4caa-9167-8fd03ce7937e phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0012202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:833596a6-8c4e-4f4f-ad8f-68686cd23dae phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0002908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:2745ce2e-ddd1-4342-87e2-f253d115a640 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0001433 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:f78a7785-2f55-4c5d-b8b0-0c5032ceaefc phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:5c8b1647-7ee1-42fb-abda-9371ee2c01a5 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0000989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:1dfcfe9f-3a63-4ffb-8778-db14fd816c2c phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:421c5a5f-2a6b-4809-9d86-dd730db74615 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0100810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:30658709 uuid:0ee58acb-e18e-407d-9f06-e5925679d6e0 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30658709 uuid:2c044d37-4c90-4639-a08e-e41bf6070568 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0003112 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30658709 uuid:9f08eaba-cf52-4f30-b8da-13244f1a2852 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0001928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30658709 uuid:8e9298ab-7e50-47cd-81d6-bd7e03de7722 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0010701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30658709 uuid:6dfcaee0-9bc4-4ca4-af0d-ea1f39fc8b69 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30658709 uuid:b69651cc-fb2a-40cb-be2d-264dcd910978 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_disease OMIM:615878 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30658709 uuid:f210d903-33ca-43d0-897f-c865651ac110 phenopacket.store:TJP2.PMID_30658709_patient biolink:has_gene HGNC:11828 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30658709 uuid:d77386c8-0d1c-412f-b3a2-d2c70f22a7bb phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:7ab64d3e-9e6f-4699-b433-c477d6595fbb phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:6bd28673-47be-42dd-bdb3-95419e8340b3 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:d30af43a-322c-48da-96e2-a685e3fa0605 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:88f98f15-c2c2-4064-83b9-0074e3c7f56e phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:adf7b704-496c-4f1c-ba6b-28b69669dca2 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:3886765b-93e7-4d8c-a375-5c327d1aca2f phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:e139c5ad-a904-43df-ad64-29ce1e9b0942 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:cfd5a8cc-d574-4785-8234-423fe27789dc phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:7df4bf10-03cf-42a3-a2a0-553b27b08ff0 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:9c8dc932-2f2c-4ed8-b4cf-592f53e68fd1 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:27c525bf-4aea-4e49-a96d-7d4c4923fbfe phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:48f75756-5b85-49f6-a82c-8c63255fc1fc phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:26833330 uuid:7b7a85d5-428b-43bc-8713-99624d89f552 phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26833330 uuid:dee7671b-28b5-4fb4-8a07-4f75d3b04c06 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:25f3fb5b-9719-4d16-9c13-b30f5345aed9 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:58aa4056-3ae5-4845-a1db-04d5a8f82435 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:b87414f4-8434-45b6-9258-29cd15989fc0 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:21b2abf1-a337-4658-a4df-745d7744e925 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:d5d01651-766f-4008-b25b-6fa62b90753f phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:13856c29-3788-4f39-833c-36f73f7710e2 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0011967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:7ddeb3f2-5c87-4482-8c87-abd08dadd5f9 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:74062d38-649e-4543-aa3c-0f304128f5f8 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:58dd71a0-04bf-4022-9066-d43887a689df phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:5e2e628a-61d1-4ace-9012-e02d40c78684 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0025321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:638dc48b-eabd-4387-845c-9995d9f4b7aa phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:8dcbd750-497d-4d1b-84d7-8dd123c7d431 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:8dd80768-755d-449d-a7b9-164575029148 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:9442182b-cbd5-4482-ad79-23de6b3850c1 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:ff59505d-0538-48a4-a8d3-3961469defe4 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:29321044 uuid:f596ba99-30f4-4262-a9ec-96ce0f2f2124 phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29321044 uuid:1e3fba84-d81c-429a-8e5d-ec8e330a36f3 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:68088719-06d2-4f62-a3b4-460e20e1d30c phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:c9bdfda2-d70b-41e5-9ac4-104d53685b7b phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:05d971b6-d62c-4f52-b20a-3ac73e332646 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:947a7879-6382-4f11-bb35-73ff35de8a2c phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:b5281f72-efa6-41d7-ae0c-d059c8a3e050 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:30d9d5ea-27f0-44b6-997e-e4f9519dfee7 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:66dd8d04-59c6-4d0c-8bc2-b6ce5d9db19e phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:4060d6a5-8dad-4c19-b3e8-6d3f9c8e22e6 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:de553fe1-70d7-46e0-8965-3f338191e8bb phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0025321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:b1d134a8-1ae1-4d3a-b993-a7238041f675 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:531ca4fd-aa6b-41c2-8127-3f26d487b1ff phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:7650f35e-6bd1-4350-9d26-20428529e7c2 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:e412574b-d293-4486-800f-5a65256bd132 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26833330 uuid:5a9efa2a-7293-4600-8534-bedb6a7107a2 phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26833330 uuid:32f29f52-d0ae-4d56-9070-951d29ca7723 phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:26833330 uuid:fcb36530-f81a-4148-8c34-28fc490305e4 phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:caa5cbf0-c467-4a51-a1ff-f1fed41cd3a7 phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:5746ba91-1c6d-492f-b813-94b1d5c546af phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:8b500ee7-a09d-4acd-b3c6-5ea086a5fa9a phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:b6fd05fe-eb19-44ef-a2e6-1816e2a0f04f phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:4bf3dc48-b6ed-47aa-9ab4-b5d8a176264d phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:5b4bd8d6-4fdf-4bc8-8bd9-3fe2344c0831 phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:e023dcd4-758e-4be1-afc6-f548d3c2a23b phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:753d717d-1a66-42c6-a87f-412b2dd1dcb1 phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:595b597d-5c70-4633-876b-2aa19bb3d95a phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:0630370a-b11b-45cd-ac75-13dbe28ede8d phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:26833330 uuid:748ac98c-5fe5-463e-911d-a86492b7401c phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26833330 uuid:4c1853d6-06ff-4626-a19b-facef765cdb0 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:194dc414-edd5-42f4-8f24-eb78e1681d7f phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:ca65e9f3-1454-4291-8d47-433a76ed91c2 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:faa317d0-9f53-4c59-824d-6c43663e69ac phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:c277d55b-99b7-4755-96d2-7deb110efec6 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:9eab803b-f389-4077-a5c8-8c00be38cf42 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:42bba7be-f9bd-4b80-8581-040e26086e09 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:a7ceccde-40c3-4f49-be5e-711760c8d7c7 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:14bbdc64-1372-4b8e-b948-a6b153cdcabc phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26833330 uuid:6b95c584-3cb4-4ab7-9d30-642654c877c3 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:ed7faac7-c319-4b7e-9800-f73b9bf4f08f phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:a44be314-a352-426a-9b31-aace8e1e050c phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26833330 uuid:27479b39-5598-49aa-9794-847949f469f2 phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26833330 uuid:78c521fe-4073-477a-8979-eb61890fa06a phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26833330 uuid:a64d3efe-7202-4182-abff-825462e7225f phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:bf8fa68b-4c3b-48d0-acc7-31aca7130002 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:2a0cf756-e1bd-4709-8eec-353d3588407e phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:2808ea15-b855-4a9c-81c2-16cf077847aa phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:63082191-5768-4432-94c9-f6c7ea2e2ce6 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0011967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:5d1c9899-3f6e-4f0a-b189-aac94fb619c7 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:180d014e-c3ce-4fd0-bdc8-778e871814d1 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:e53254bd-a8fc-4659-a49e-87034e5382ea phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:29321044 uuid:dd0a9a9b-ff1f-45d5-bbaf-98f08320da13 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29321044 uuid:4ab58d79-9291-459f-b937-a07d4b81c28d phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:094366b4-ba69-4866-b647-aecf63a77274 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:da90dd5a-0881-4e18-8c33-0c1b50fa8b61 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:cafb1846-8186-47b4-bfae-3c36f0ff7b42 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:629a8be3-43ef-48aa-ba70-88a2dc74e8c9 phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:29321044 uuid:6d6e0cb9-fe9e-4c56-a970-81a34409ab9e phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29321044 uuid:326d90a1-4927-4a34-8e41-f26696df787e phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0003124 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:6c54dd35-6d36-438a-afb0-cdd4bbf55f46 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:5a193e18-386d-4ad9-b27f-ffed65b5dac1 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:eda95779-6763-4d36-b6d1-bf9e98ae7d0e phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:4c56c83e-28b6-4e2b-9b53-718465c49977 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0003141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:2cbb67fd-0480-417d-86ee-83b7b898fb3b phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0010837 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:a2490dc6-74d6-4568-af23-d41d99970a68 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0011967 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:18fcd8eb-83b1-4a1a-a31b-1b48bff507b3 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:a6cbafe6-9793-45c4-ac37-355959e17fa4 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0012301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:cb5def86-cd7f-4984-8f32-2cee6a63cd15 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0002240 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:29321044 uuid:8eb7b753-b2c6-4deb-a64a-832ffc27b49a phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0001397 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29321044 uuid:a536fda2-c88e-4506-9588-01b0d206ca3b phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0025321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29321044 uuid:78242eed-a2d5-444a-ad33-f6c2a207fbf2 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:c6f63cba-69d9-4aca-b4b5-484d9ccd3879 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:de4ee23c-b291-4c1b-bf6b-3475e064dabd phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_phenotype HP:0001395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29321044 uuid:ab1b2056-0d5c-433a-bb70-47e3580f86dc phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_disease OMIM:616829 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:29321044 uuid:d92097e7-9a1a-4e18-b0a9-bfdaadf69e99 phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:has_gene HGNC:18085 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29321044 uuid:e99aea2e-e7ef-4e63-a2b4-eb45028b13c8 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:1f901e05-25e0-4c9e-94c5-4e4163f34ea5 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:977cb72d-77ec-457b-a3ca-fa75d8faaf55 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:956dcf0f-1a58-42c7-a2d4-bc37d7698add phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:2188b7fe-1e5f-4949-b905-368e2ff1fda2 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:f7e89574-cd04-4ec0-92ba-3296523f9d7f phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:92d1b3b0-4508-45ca-ba3b-5b83017db289 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:331ea0ea-5d9a-4f18-94d4-a9522fae6d04 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:6fea42f3-2fef-4526-8e2a-52f7a9a44a1d phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:58b9ebae-0933-44ae-8586-ce27e13bdd82 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:99059e94-bcff-46b4-9565-284aa39a65b3 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0002243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:2f30d7e7-1541-426b-a25b-848cd0e4c3e9 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:3d23c8a2-c533-4ae9-b3c5-a93bf4155046 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:96557646-3f65-4cc1-ba24-c9d2ac50c3cf phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:80fbd49f-447d-4abc-8e60-e7f22ecb6e70 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:951d98f7-db61-4a45-a0ac-f8904146f767 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:b905825f-0085-4de7-978f-2924760e1269 phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:2e6d24c0-01f7-4365-b15e-379e735b196c phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:ab0e2542-a518-4ef7-abfe-d65533f1b24d phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:39b583e7-b2ef-4b38-9897-e7e0fd6aede0 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:b4d39937-a05d-42e6-baaa-6118bf0f19d9 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:4ed187a0-7a7a-4049-acca-f2314521cc04 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:816882ba-449e-4ede-9506-e5b619b34a2a phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:ab7132f5-fc8a-4fbe-af69-6635c2c39f42 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:849c2748-8824-47a2-9f2e-d3944148d07a phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:8f6bdcdd-cdcb-4c77-9e36-b809b5eaa58b phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:679b9c2c-3d9c-45ae-aa33-d36f0023d068 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:00dcccd3-720b-4041-ba5a-f5cfd4105722 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:d661a3dd-e461-4d6d-91b0-b83ea94b4c77 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:98cdf1da-d052-4aa2-9d90-845ee63e37da phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:959761dd-6e28-465d-8a6a-51a284df0b5c phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:1dbc6244-af67-4a18-8b5d-21207fa232b8 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:cd629df7-6275-417b-b691-a7ec046c81cd phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:3461b6ec-59be-40aa-b292-b109e6dff66d phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:7635f7cb-857f-40b0-9976-c568e67e01b6 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:18aa88b1-cdf7-4227-9c4c-93bb897800d6 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:94cdca2a-d8ad-4c9d-b4a3-907b25cd7888 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:4456e5c9-668a-4fee-83e7-9c3c4d21d0e4 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:131b07ef-de4d-4618-a78f-a566e7f2de2f phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:296f1af5-29a0-478e-949b-b0cec7c2ad38 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_phenotype HP:0011037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:7b5c9ef2-ca0e-4c5f-a868-4b5404c0c015 phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:a64edf54-10ab-41f1-8064-bbe063332b8a phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:2644c26d-961d-4017-a717-4e64c8a3a674 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:8d57543f-0d53-4136-969d-9927a95e69d6 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:b7d71c77-c2d6-43a6-912d-462a4570dc09 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:99ffe70b-9ab6-4e99-b571-cdfcbc24c8ba phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:958e1dc6-d685-48c0-a9a9-685abdb6a447 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:45e0bfd1-6983-4ed0-bbbf-92e68a000936 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:a7c8780e-bb07-450c-b262-795f475b4960 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:656e542a-7508-429a-b0ba-12cbf28c36e4 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:9c0478b2-6ae2-4813-ae60-87ca33b49f04 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:61a47da5-479e-459f-aacf-97960629a8f0 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0002243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:ee8f0c3c-ecba-43de-bac3-842acf7ef17e phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:246f24d6-c018-4ad0-b0fc-10377089cdeb phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:6fc83b71-5132-402c-9772-88810b473c88 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:dca7acc4-205a-46dd-a74e-f8cfc4a9f708 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:6487678c-c66c-4261-96ad-8c0815d1fbc2 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:6a01bc6f-2ab2-4637-8e56-41d66b480a00 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:03ce4b1c-65d8-4322-bf36-cfaa3a32ec1d phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0011037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:d25c3d89-17ea-4683-afd1-f18306f7a667 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:0208e048-93d3-4f6e-b943-1eacd1e26ac0 phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:55ad4b69-891b-418f-89cb-c3ffe68fcb4a phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:5d231091-56c9-458a-8fa7-2e313b95d8cf phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:18654769-dc53-4ba3-bc72-d1295b5a831a phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:83b55fff-e42f-43e0-8706-34879974971e phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:d2c926a6-a875-4d10-8b6b-7a7f0a2a8ed6 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:588ae09a-d66d-4f90-8a0a-58db1d0a0c27 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:28575b45-9fa5-4351-ba82-a30235edf756 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:bd987f63-4dbc-44c3-ad04-ca36bf4e8ae6 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:e43d1724-59b2-4927-b8f9-fb33cdda85f2 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:e5ca2436-0773-4da3-9c93-768ee79cd005 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:acb57d56-ff66-443c-bb89-26ef960f843b phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0002243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:3f812059-674f-4182-9006-16d34daa072a phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:3b0fb7ad-55c3-4253-98d6-863f806731ff phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:f848594a-8bd6-46de-add0-0006750d753a phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:b0cb6ea3-2ae9-4aa9-83f1-d32d941499a1 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:a806af30-4ad8-40f5-bc95-d9aa5c3af160 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:e71aee55-14e2-42a6-8b33-526c0c272bf2 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:bb39d864-a1e7-44c8-8cb4-4388d8fe995f phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:9dd2edbe-0556-4f17-b556-a233b0a4f064 phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:646d0b6a-53f9-4dfb-9d0d-b5810ab17cf2 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:9bda8c9c-d72a-405e-b456-f3df6b480d54 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:05463e8d-37c9-4050-a6ee-b48e389264d6 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:cbafb75e-28ac-4187-bdbd-3eacfdbce3f4 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:054ffcb4-57d6-4b6a-915c-44290ccdfd17 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0011037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:86756d7e-6c99-4d1f-813f-e2a8fcc40bab phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:46399121-675d-40f0-9767-5cb2b630ec4f phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:5cf4907e-c330-482a-b7f0-91c76ceba811 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:d3cc485b-0fc1-4916-a623-cdc44f16b9cd phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:ce24b54c-79ad-47bd-964c-68edd54ceeaa phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:2fdf04b9-fd29-425f-99f6-10bcbcb7bba6 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:93e0a710-0a72-4d4e-830b-6b43f276fbbe phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:8ce1f983-e6cb-48a3-9e5a-961253218344 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0002243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:69c7a7ea-143e-4308-9b42-60bdf3465ad7 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:da23a97d-14c9-46ab-af7f-ddf291015c32 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:911aabb4-803c-4f78-a0aa-e396b17febf0 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:bf0e22ed-f588-40cf-afd4-0022b25b8d46 phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:dcdcc342-1a4f-42f2-9ef0-5d4af3e8853c phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:853120b1-0765-4bdc-a8b9-5a42a8e6080d phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:ace2573a-e870-49c4-87a2-a6c2b04972fe phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:5e8db3c6-cc4f-4134-a7d9-4981caf775bb phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:dea34a4a-d13e-4f54-927c-2c7b4dde2b47 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:67eb19e2-31c4-4824-a947-8e59cf64c406 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:627099d1-73a6-4c7a-9211-e37ffe984e39 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:4ea0710c-c690-4e57-b7c4-6fd962f97cae phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:d80bc315-e852-4ecd-97af-d58b747a374a phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:a1080426-c8b3-42c8-b9d8-0a7b1946f1cf phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:f23130e4-4e80-40e9-85aa-49b822a1c6f9 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:1c38b400-ed7e-46e4-b0ac-54a391e43f9a phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:c532714e-b66d-49f7-b0d9-b0e80597ff3d phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:5f56b8d7-a1bc-4e93-b77b-d4f2da8bfaf2 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:01022347-39a6-43ea-a955-b6526de29701 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:4b1a2a2b-9a70-441f-80c1-334e392e9071 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:6e521529-fffe-4ab1-98c0-0390ce3d2935 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0011037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:6e4641c6-2498-4bcd-a82c-e824ba810d91 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:e6fd63af-d85a-4c8f-b23c-6e2c93155f5c phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:64877ec6-2bc6-4f3a-be57-6244c3ff8541 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:b63b86ee-de8d-4c54-b558-6dce9d322962 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:8972bad4-cae3-4e7e-8632-2f74440bb479 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:c8a94a11-5a72-453d-ab95-4bb948e9b9b2 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:213ea0cd-d5d6-4937-bdef-485b83294f06 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:04c4289b-9210-477d-be34-42a5494893a5 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:af213bf1-d8f6-44fd-9fdd-e4c50266e6c5 phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:004284c1-0f7d-45c9-b090-77adf296385e phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:a1065223-39f6-4e9f-9149-da35179114d8 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:c713fb6b-05ab-415c-8936-ce15bc7ddb7a phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:4cc5ea66-5837-492c-bb1d-20bb218d2106 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:2a4ff7e7-48a7-4cce-bf77-f10575dd3c88 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:ea1c5cfe-96f4-447a-96e4-4935fd8cf1ac phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:ca85d2f2-0eed-4f6d-8cfa-582f8323ddcc phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:0488e7be-abc8-441d-bbaf-f46fedee1e55 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:f15cfe71-971f-4f44-b37f-819377abba04 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:be71a2d2-62d0-4582-85fe-7079d69f742b phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:d1396121-9f89-4d23-8e5e-edad8e732584 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:b31eef14-5ae6-4aa0-9c66-6029e3e7b40e phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:d682d625-2426-4507-8ce7-2301541cd48a phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:455fda0e-c58b-4f3b-88d9-855a7757b608 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:f446fc43-f065-4cde-881e-11c108f1dad1 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:b5713f8d-d888-4bc6-b634-aa84d1af81c6 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:ebb0052b-4594-4d4c-a05d-4f1aba046355 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:715389ff-4563-4720-8f14-b988368adb51 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:7089b6cb-5068-4005-b8f4-901cf7927e3c phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:e0ebc7c2-9c42-44b2-b5f2-97df757acf15 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:84170544-b220-46b8-8770-096d285983c4 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:b514e24e-643b-4b19-9640-c31ad09ab367 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:46ba3d1b-7e76-4a66-a7c1-b0fec530e1ce phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_phenotype HP:0011037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:598fd66c-c830-4f7c-b99e-20b81ae4a446 phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:15a8d29c-538e-4d76-9141-ca10e338dcae phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:76c7b18f-8d44-4331-ac0e-a816b818bef2 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y3M infores:phenopacket-store PMID:34612517 uuid:6c0ba3cc-8001-4dc3-bff4-916081548c56 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:f3eb2c84-1b44-4955-bf42-afddd7d4f529 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:8c6117ca-a394-4dba-b211-69eeabf9d562 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:74de5b81-fde5-4322-a36a-f293df27d389 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:3d7d3dd7-0cd7-4a47-b686-57e403329780 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0002243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:3abba2b8-f524-43f1-a7d4-822189e950d5 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:50dcb6ed-a264-4a5f-95ee-f2da76555c19 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34612517 uuid:c8fb87c1-0198-459f-8910-be38c88234b2 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:d1e9fc18-ecf1-47bc-b837-1443b29673a4 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0001642 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:dd89bdd5-0c41-471c-a7d9-19545f4a94dc phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:7b8cea19-c21c-4548-bd13-02b03ebdd8ad phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34612517 uuid:cd0e6c43-c346-4cc9-aa7c-caebafc99ee8 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:fad49d76-2bd3-48a1-889b-ce96bf2a1436 phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34612517 uuid:a3ea34d6-ca96-42cd-a0cd-d9888cb19ab3 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0011611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:7acbe2ac-c934-4c6e-be52-8945e48b6d98 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:286ee3b1-4e75-41a4-9745-463a340acea0 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0010773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:e398661f-7022-4ac5-9bf7-e2b9a2057609 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001660 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:1539caf7-c54a-4502-96f5-e441e15bb639 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000083 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:48d8d410-0f94-43f4-a5b5-65ff5bd53701 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:242ca871-5187-4ed5-9830-c2a48f716668 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:1b27a0de-2d95-4e79-895f-544e03b99941 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:d45da28b-308e-4bf5-a1a1-d809c7d627c7 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0011037 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28318500 uuid:4fe575ce-ef9b-44ca-a192-419a1407d0a4 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:7614f92b-dbbf-40aa-bc60-732a38ec7fd8 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:72c6c10f-da60-421a-82b9-82c35df9979d phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:867db98c-eb71-40a6-a03a-a61e4bb6573a phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:48f804e9-8a5f-4dac-b13f-b9040589552d phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0011662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:1a1de77d-8405-481e-8c75-f34c987a50ad phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:ca3f9702-f9d6-4ced-bc22-cffc2adf90de phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:e33996c5-d124-4f3b-9aa8-615a7c69fc3b phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:57d4ce11-3075-4f85-b246-279782265d3d phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:5a6e596a-2ebe-439d-bf5f-0a05383d38a8 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:19940d60-5dc7-4f41-9eb9-d99e85b51774 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:81b2f513-5839-4629-bc4d-74d17ce86059 phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:5b7b73e8-63e0-44cf-87e1-9f2ff8b0eb9d phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:e150b7e4-b862-4321-b5b0-72ba8defffbe phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0000961 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:d8e5fbf9-3a19-4a35-b2bc-776e6b337baa phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_phenotype HP:0001162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28318500 uuid:514d7dbf-fcd1-4136-ac77-ea1c0c0a46ed phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_disease OMIM:617478 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:5b1d55c2-844f-4184-8eb2-176e0f6eb82a phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:has_gene HGNC:20185 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28318500 uuid:93041817-67fe-4e04-b332-930bf6aa8b16 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:1670f5b4-f957-41d0-bc8b-b41c8eceb4dd phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:0ed5b014-8fc9-4a2b-839e-b88fc3605c65 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0002753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:8783be02-2298-4a76-bfa0-f7aa7d8f952c phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:f0f56fd2-ac12-4bdd-978b-10358dfdad03 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0031425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:22ff2a1a-244c-4ec2-a103-be0cac9f651a phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:4d86ee05-5b3e-4553-9da1-c8df4379c853 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:082569bb-629f-4eb7-b777-3cfcdfdb24dd phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:79e91798-0e66-4d70-a627-bdef55c2df56 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:084f52de-5a68-4100-8ba8-4896014164e9 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:9d81991d-f27e-4d73-82ca-483c6e22dcc5 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_disease OMIM:615066 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26911354 uuid:a46ea990-8a69-467c-aef0-9b75ebc9826f phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:has_gene HGNC:25535 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26911354 uuid:a37afb42-b689-4cf4-b991-1d9070b2b865 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:eea20a17-6589-4896-9379-8ca8966ff1e1 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:2731c158-12fa-41e5-b8c3-1926efe78318 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0002980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:5c7f7d59-3223-4db5-93a6-66997f57f03e phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:114f8d90-69f8-4752-afb2-c6a596410014 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:a4f654e7-a503-4330-a37a-62ec570891ba phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0002753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:807a2ae3-5982-43e0-9438-95994794c43f phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:f675db00-7b59-4669-a98e-fe7427ab2259 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0031425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:919e0e58-4072-4d1d-8c6d-74f73e3f28c4 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:2f74b654-31e6-4b78-b8fc-09d362f6d9da phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:60a02737-dae2-47f3-830d-350059270271 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:2a7fe49e-ca16-4b94-aeb0-43fb06bf972b phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:f04a7652-9556-4223-a2d6-4dd84d6e4d17 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:ea6af23c-7941-4676-a65d-eb14e00eb598 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:26bae058-0c80-45ea-94b1-b8570ea92e28 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_disease OMIM:615066 biolink:CaseToDiseaseAssociation manual_agent observation P8D infores:phenopacket-store PMID:26911354 uuid:8fe19d63-f581-4c13-bc5d-68868e4ba168 phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:has_gene HGNC:25535 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26911354 uuid:1f97e030-9483-4dd5-a812-33ba7614ef21 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:0bf866e9-0724-479c-a4c1-066da04d4425 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0002753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:3d2add60-1fb5-49f5-8c53-9e7e83bacedb phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:309038d0-d574-4430-a38c-e59bd21847da phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0031425 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:cfcd8ab3-32d3-4ac8-bc5c-b20f152e388b phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0003155 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26911354 uuid:77790e31-1160-4cee-8798-64c520aa7759 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:53e722a6-7c07-47af-aebe-fbb29c924b69 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:f16c6415-a3fa-4108-8808-b7b4d3cce37f phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:f260ef90-40e2-4312-ac07-b87de849faff phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0002645 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:a99ae4d8-73f2-4bb6-b074-8a38238370b9 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:2377160e-acdd-46ce-9ea5-73e8146ba74e phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:e48195c2-cc0e-414c-bfd9-4be2f67cce6c phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_phenotype HP:0004363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26911354 uuid:041a70b8-c325-48d0-8e8a-38ff2f074ea1 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_disease OMIM:615066 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26911354 uuid:c736694c-74d4-4db0-b5e1-da3dc54051d4 phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:has_gene HGNC:25535 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26911354 uuid:5f3f4a0d-1802-4fb3-87de-33ecd7a900f7 phenopacket.store:TMTC4.PMID_37943620_M/25 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37943620 uuid:484b0618-02ae-4195-8182-faece24b76e0 phenopacket.store:TMTC4.PMID_37943620_M/25 biolink:has_disease OMIM:620714 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37943620 uuid:642defe1-403c-4b29-ad40-499b80b2220b phenopacket.store:TMTC4.PMID_37943620_M/25 biolink:has_gene HGNC:25904 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37943620 uuid:a7afe5b0-1736-471b-b633-9ae67ed392b0 phenopacket.store:TMTC4.PMID_37943620_F/28 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37943620 uuid:39cee1db-80d2-44a7-8919-8fd64effdb5a phenopacket.store:TMTC4.PMID_37943620_F/28 biolink:has_disease OMIM:620714 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37943620 uuid:391bd2f7-6fca-48ba-b18f-e1b0f8ff1ca0 phenopacket.store:TMTC4.PMID_37943620_F/28 biolink:has_gene HGNC:25904 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37943620 uuid:7c9cd6f6-b93a-41e8-9894-87d9ff34a03a phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:a1474d81-3d65-445f-88dd-8b52df9d3be8 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:3ba0a4ff-db0f-4d36-af6e-9f0622ce4459 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:fb7adef9-4a8b-4aee-ba86-00a1780c4f19 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:495795ec-63e1-4bc5-9d7a-fefba5a6f10b phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:594cb8d5-b40c-4008-bfd8-74cbed309510 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:5273c21a-ec55-4b94-ae53-8a79be196795 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:0e845352-8ace-459f-9242-44d213c9d29d phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:cb429f7e-aa37-4e5f-b756-822092e15a55 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:402ae124-e0bd-4ccc-8630-36ceda87f99b phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:29568351-97ac-4295-a435-134adc9e7262 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:a7fa1709-9e8f-424d-bb84-a2c111cc77b4 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0008499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:bd77cb7c-3245-4696-b5d0-13f5274c5e31 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000568 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:22f9020a-ab71-43cc-abf5-1fd09e163b4b phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:d08d5581-6fbb-4149-bb0d-e4c0254a8d27 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_phenotype HP:0008070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36282599 uuid:6f23c76b-1e3e-42b3-bf13-2159d6222924 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_disease OMIM:620601 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36282599 uuid:a0a94213-5017-4c54-ac77-92eea37cb401 phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:has_gene HGNC:21648 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36282599 uuid:03c34baa-cef1-48d1-afe1-3d6b5fb41fae phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0008897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:bdcd9545-1f0f-4e7a-8a6e-5705835860aa phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:9a298a83-9fb2-489c-a565-8592036c9ff1 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:0cd4d1be-43be-46a7-8ce3-e3ff98a47641 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:0191ae8b-e4bf-4c9a-bc31-d5e11cf0bbd4 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:4423811f-ff37-4c20-8506-2fe396cb4bb4 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:43b9f754-6b27-4dd8-9293-02b9896da9d8 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:2f1bb083-9b85-4cb1-ab8d-b54e70431c96 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0025435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:5630f591-43f7-424d-97d2-d4dff3401552 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0004474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:74295517-13b8-442a-910e-09dd1145f197 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0000883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:e8646557-75a6-4601-b864-3ebaffe22456 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0003300 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:befed504-d601-4bf8-9cae-07df20992943 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:b47f544b-a40d-421e-af70-a9a663e83afe phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0003100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:8ba116f6-0523-4548-8a4d-664770418647 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0002673 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:37d7c015-1da1-40f5-8c3e-5bbfe33ecaf4 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0006236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:6fc45df5-5996-4cc1-a12b-2f65665764e4 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_phenotype HP:0001414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36299998 uuid:9b382b72-518f-45c3-bf6f-5b97790a7710 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_disease OMIM:620601 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36299998 uuid:7952dd12-9658-4759-8888-475833c3d888 phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:has_gene HGNC:21648 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36299998 uuid:66be61b6-2c6d-4de3-b376-afe64343779b phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:63243aac-be2b-4417-9529-5e1a9cab8c59 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0003073 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:996579c4-a035-4c51-87a0-9132681ab273 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:d3dadc11-3063-4510-b096-e29ee872796c phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:dcd0bcf9-1186-4c44-8832-ef4a41d2f98a phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:654845a8-78c1-433f-a9f7-0805da2d7d89 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:197cfde1-1c10-456c-9056-97a7dbd08f70 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:edc6f1f2-e94c-450a-b860-97e346163e2e phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:566ceaa7-5f33-409e-947c-2ccc8cc8e572 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:3864025d-9873-450f-adf4-ed934e6688e7 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:beaeb8bd-54bb-4ab3-bc3c-9c3e855fc39c phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:4e8f2d61-df6d-4468-a216-ddf20930a6c7 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0045028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:6a6cd98c-a2fe-43c4-8d16-c1f6fcec2ab7 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:9f7ba6de-b802-47dc-8512-160d6275820f phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21D infores:phenopacket-store PMID:30053862 uuid:8c05c8be-597a-4b50-b981-2c7a27963199 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_disease OMIM:617730 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30053862 uuid:bbd3da3c-25e6-41be-9336-42b5c3b75e63 phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:has_gene HGNC:16197 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30053862 uuid:fc3f837c-615a-4017-a641-874c2886bfc5 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:67c737ea-071a-4211-8e1c-1452963acf7e phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:4ad423d4-4a4b-4918-b221-25c3de87e185 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:8c08603d-8b16-44ca-9c3d-2a2a00733374 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:2f854367-e6af-48a9-847c-4251a2d80846 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:0403d723-f669-4d66-913e-131380c4d413 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:430cb23b-7449-418e-b45e-06ec02aa552f phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:0b7da024-7b1d-415f-893d-18d62d795544 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6D infores:phenopacket-store PMID:30053862 uuid:1152c00a-4694-4a56-9549-301a8677f759 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6D infores:phenopacket-store PMID:30053862 uuid:019c56c8-71a4-4fe9-8cdc-c43ad10badea phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:8a2e2679-bc7b-4b25-bbfb-18a3dfabf8b6 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000100 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:30053862 uuid:dfd9e17e-34de-442a-9541-832c17c10c20 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:30053862 uuid:9a04307d-f111-45ed-abb8-1a2e39a5f92f phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:30053862 uuid:1db7b3c5-1131-43b9-be1c-6542ef4d52d6 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30053862 uuid:640e9159-a74c-498d-8724-15064ee5f050 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30053862 uuid:38618165-2f9c-4adf-8831-e5a1c7a7ea11 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30053862 uuid:c3800eb7-814b-411c-8a41-0f7eb0bebfdd phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30053862 uuid:3336d96d-b65b-4583-9d2e-0fa99f697b81 phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_disease OMIM:617730 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30053862 uuid:daed3af3-8a94-4bc5-8901-4c95e25dd2ff phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:has_gene HGNC:16197 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30053862 uuid:cdf5d447-a6a7-4c94-96c3-4ca7c18552da phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0007430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:a1e67db1-56a2-4d32-b8b9-c5e762d4002b phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:6e660dd1-1068-4e8e-a12f-e5de6f88164a phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:0ec18e14-11fd-4620-b1bc-3f904a569316 phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:5e68b844-a936-4fb0-9bf2-43e63997bcfe phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0045028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:15f8965f-448b-4f88-ad06-8a9723a17dbd phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30053862 uuid:3695c66f-0a00-497e-9d4d-000ec8348df1 phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25D infores:phenopacket-store PMID:30053862 uuid:6d371cc0-841d-4dfb-bcb1-a2a3828ba549 phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_disease OMIM:617730 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30053862 uuid:22401872-9f0a-4a98-8a7b-b1e0e4f65f5b phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:has_gene HGNC:16197 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30053862 uuid:606218de-d688-4cec-b727-33309ab1f680 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:703a77df-cee5-45b7-92ee-4a48db0761ce phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:209c2765-3514-4318-b45e-2d36a22b1fa1 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:6a8d64a4-6e75-49a5-ac33-f4bd3d688338 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:cbad21bb-315a-4e84-8fea-db0213704eb5 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:79aca74d-b426-4eae-8f9e-02e8f3c5e884 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:ac0aa3c0-0c21-49aa-b6a1-082775bbf61e phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:8e818197-5e71-431a-b307-5e798efa6bc6 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:1f6173e9-ba5f-4f49-80ab-21ce59eaacef phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:e492f9f7-f87d-4503-946f-2c687e930128 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ba02c0f6-9ff4-4b03-a892-9315c69236c2 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:fc7d5545-e98e-471a-85e9-6f4cbd3d850f phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5a2ee3e2-0071-480b-bd4c-ce129b101f01 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:628e07d8-a42e-4e47-b06f-11e808304fea phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:36a0e9a7-eccb-4079-9eb1-308d5e3029cb phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ba171bc1-3224-41b3-8893-bd91f5686a5c phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:eddb0381-52dd-4e67-bfce-f004cb1f39a1 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:f85a152e-ad4a-4f4f-be8d-840a2e4d5537 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:e75c38d6-2e55-47f7-bb31-ee5859842bc3 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:7313c216-5e42-4368-9a6a-3fc9058e62a2 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:322555d3-6b31-4d39-b717-f352d724dc0a phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:82d86007-4cae-49ab-b674-38a64025c498 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d3be4399-f6ad-413a-84f8-97a53c5e9f99 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:9f7d12bc-2e00-4c66-91bd-16a998bc4c04 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:16ba2f55-96d0-461e-88b2-6275f5744451 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:0c9e02b5-7e41-4a3c-9640-77f244a503e1 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:74be6177-b675-4f25-826d-0585ccb0eaf0 phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:6d389ef1-1cef-4f81-bc92-54a3ba9541c9 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:5a8273d5-753f-4f18-8196-d233cdfab5e2 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:c71f6af3-500d-4af0-aeca-7ad26f79a7db phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:31fdcc61-02c7-4422-beee-211c80fc59c7 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:0def57ac-f00b-4583-aa9e-49ffc45848f7 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:73bfda11-a1a1-4aa0-a8d7-fe61dfe6d333 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:57f187b8-4ad9-4e61-b5c5-dc41775c8c75 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:1bec03f1-8442-4997-8530-6edb9a86b6c2 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:fe9389d8-eb11-4480-a222-e0ab2db935c1 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:e4d8d250-e570-4bee-9307-ba258e5b537f phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:16c12ea8-5ebd-47a7-9506-4d2e26a65f86 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d5b51583-f948-4388-8119-e3f2457ef0a8 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:6d85cdab-10b3-4ae2-8cc9-45a4cdf66e18 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:0c40fe81-9990-447b-900c-0f563be5def8 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:bc797fcc-18e0-46d3-b8f6-ed53d52a71f8 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ee1aa49a-8b05-4daf-bf3f-7d250c14a70a phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:e3b51d49-dd23-4e61-8959-c30e84c26b68 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:06daba98-873f-417a-bea9-87637a360a02 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:30c8b15c-cb0c-4ad1-91c1-6ce0fca5b5dd phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ffc89d07-17d4-42b9-a183-4bd05d6511c7 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:2f9e5169-dadb-4319-8c01-d5eeca069ad7 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8d18400d-574a-4be5-b3cc-2f25360b0579 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:181f2c85-871e-4b5e-b6bd-a78c08abf745 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:30f5b133-531c-4253-bfe7-c142d729aed2 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:c186ef32-abd5-4b53-9129-e5a8518f743d phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ec39e13b-725d-40c6-95c5-d335db8abbbf phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:45224555-f164-4e4f-99e9-537aa0c90cd0 phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:71c578e1-35db-473d-a65a-6df99592af2a phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:608c0ca5-09c0-4ce6-9e4a-0d7dfe89d5b6 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:bedfbc5f-dfe4-4273-9074-edfd706ba692 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:3a19355e-03f7-4260-bf86-0b5b631ec4b2 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:b6b923ae-2f3e-49be-91f7-2dcbcf0e5075 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:08fa8679-09b8-4a48-bd7d-640dc347dc13 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:a0f69614-448b-4756-b3b8-6d42ce797e9d phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:86b9c5c0-b0ec-4a12-b1c1-5f15ac192c50 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:5e4e4293-d852-4b5c-b63c-a29197ec6663 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:ccd9e697-3cdd-41e7-a2fa-6934884b71e5 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:319ddb40-30f1-4a0c-9050-4af70e75be74 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:3a18751e-34df-4be3-b477-0e8df195106a phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:291e6cfd-cf30-44a5-8783-478f2c4beaaa phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:643eacfb-9d53-47b6-b7f8-c43941cdbd6f phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:7f44953a-4e68-4e99-bb08-45ca33a66327 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:a6a4b0c1-566d-46c1-9a9e-e7c9a48a9e1e phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:201798d0-c35a-4baa-8854-596f76270fd9 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ad33e7d7-d930-4986-b618-a0a2cda727e2 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:2f317d8d-8003-4c07-8c41-b71def9bbe97 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ee66dc26-e673-476e-8b93-25039c070d9f phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ee4a614b-2007-44d9-8f0f-eeb2d5613ecc phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:372a88d8-2528-4ea7-8143-841f59a73ba4 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:4d18bffe-9889-4d64-b86a-bc193f17f909 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:55b0741f-0953-4b97-bcca-2572eaa49201 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:dd55cf43-c649-46c4-9630-bfc6b507f5db phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:f9ee179a-860f-46c0-8579-ca1b5b0f8465 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:5145c4d1-0537-4ee6-bf3a-51c0e3dc80a9 phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:b40e9d1a-463e-492a-82f1-35f409799836 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:73a6b262-f7eb-4049-bee5-6441fdd0c330 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:8f12c1a4-4cb2-4c29-b82f-2432340e342c phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:dcb83af0-4828-4d27-9092-41bee4fd3f0d phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:7b2bbde2-1391-499e-b8de-a7e649e6b89e phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:ca42f047-f9cb-4076-825a-c2dc7b5d6da9 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:332e035b-5933-4e53-b113-cd790e77e232 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:bf316a46-f57b-48d6-94d7-98b266492868 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:4b0dcef0-2cd4-4f89-a18c-66a7bfaf4a2b phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:36e37751-6721-4198-89a5-1aa7434e8e71 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:0c6ba2e7-1d0d-4a43-8ecf-0c499d81a533 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:c766b689-3d5a-43ca-a79a-b4b35f212cf5 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8f0d71fb-85e6-4fa2-89bf-fac4d30db721 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:124475a6-2691-44ae-87f0-64c5505b4e27 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:3d7dd787-8c5f-4df2-8301-e1071f3b06fc phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:c7843071-d6af-4470-9047-ed040a68be12 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5edfbc2d-8eb8-4c63-bf6b-790e8e974643 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:7a6b7666-d53f-4c52-b9de-69bf919a8333 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:4fa73166-e00f-4126-bbc7-45696d1a80f6 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:a146984a-2d1b-4629-be26-09218cb14250 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:eb9c2219-ecbd-406a-b911-f52028ba395a phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:7ab90e38-0019-4765-a5c5-a27025200721 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:cb82dc03-021e-422f-a5b1-e5a28b29d582 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:73074aca-5c65-4265-a076-993447f39395 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d2698040-f191-4f65-a7c1-3b30f1b913a5 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ddbf7df6-6195-440b-969f-43978eb11e64 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5675962c-843c-446c-bd90-9dbd64117530 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:0b87e889-2ec3-4434-9f97-2a0ea84dc006 phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:211e2f02-8ace-47e8-9981-240de4305858 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:07b39c9c-5fac-4936-8173-b5af881b526f phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:b3929b84-c1c0-438e-9046-55bcca0cb2aa phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:cff2212b-8156-43a4-89ba-e15075e17f85 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:4f8e9a88-1985-4da8-a91e-e1bf27d217e9 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:b8563f1d-8d52-425b-9810-e0dbd3e3966d phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:33a5b232-0ee0-4504-bb71-ecc13fe3509a phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:a456ea4e-7281-4b62-93e8-50c8b020a07d phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:7ba5afe3-b851-4de2-8f3c-556bd58a4bbe phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:f37051f7-55c4-4072-8abd-147979aae75a phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0007340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:745aa8e9-8a41-4f19-ba20-328fd7f2cedf phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:17b8c2e8-d2cf-4dd8-81a2-93a9f2cc48c7 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:bdd68da6-47fc-4114-ae00-002ad2c4c2c0 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:025484f7-c95d-4b1f-80f3-e2a2bd4420f9 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:a14175e3-70c9-4673-8fdf-a5b772883bf2 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:6fe831b3-156b-4d37-8856-d4035123ca76 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:057db176-3986-444e-960d-b54d55ff29d2 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:30c910d9-16d9-433e-981c-af7544945aa7 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:c911e131-629c-44f0-a3c5-47aa03586c62 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:85715a40-0461-4b97-a84c-95d443d01d94 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8748d8bc-1642-449f-8711-1b9891327d44 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d5538d26-2452-4da3-8e3b-64407ce49a2a phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5de43d21-8932-43ac-8f51-985d607a1178 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:1512d2c3-b717-4464-b08e-eb19e3df74c9 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:e34a8d48-627b-4d8c-a379-cb018800a3f1 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d93b0e42-c47e-41f9-af1c-fac594a5ff4f phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:4281297c-12c3-43be-b173-b98c636b94a6 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:66f7751d-a355-4817-a1e7-5b6e7345ba04 phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:79b18e68-6df0-44cd-af55-06161ceda76d phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:e2534155-d662-4533-85d5-72127b4d7672 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0002355 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:23378224 uuid:4a3d94e0-56c9-4ca7-a3f3-6f427451c7fc phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:d77ed0ce-39ad-45ba-b5a9-1125bf5e4c13 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:dc24d2f0-642d-4c6a-8dbe-546cec1772b2 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:fc97c843-afd4-49b3-9d1d-c559ff8e7157 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:e4434c1a-965e-4fbc-9d86-d2f98da0d7c0 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:bb19db19-c4ae-46ed-ad4d-9d333ee9d60b phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:3a8d3d2a-fd41-4fc8-9c12-3f5f913d448b phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:6aa68ee1-b00f-4e5a-9932-73b22f5047c8 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:1ed49d7d-745b-44da-8d67-c35b4e5ed62a phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ae77f496-35a9-4671-9432-7832cf04e2c3 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:a82f5689-c05f-4171-a348-4ffd9275ec2d phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:30b9bea4-7701-4527-a65f-6d6ff5b2eb4e phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5846c267-35ba-41ab-b5de-fdfeb7729b4c phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:68944aa0-abe6-4118-bbc3-20b4f97ce17f phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:13262838-6d3a-4489-9ff9-4b1a333b31e8 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:24c6d962-fd0d-4154-a3cc-f0343045dc9b phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:70c4d97c-aab3-42f9-830b-1c570686e81b phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d6c338be-650c-4541-9044-28c68f3a5a2a phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:9caf5ad9-14eb-4e31-9595-6f924d9659dd phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:202bab61-d436-428b-b668-dd788635122b phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:2c6ca456-9c46-4218-ac21-ba30ed1a8ccf phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5c6d40db-6abb-4758-a9d8-3d620e158c00 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:7346fb7e-b1bf-490e-82c5-734a6408503b phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:dcdd34cb-4371-487a-be9a-d5e39671bde7 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:cbf7a543-d3a0-4929-b821-d318712d3323 phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:1f45cf5b-068f-4cd1-a30f-5c90ec6b74cb phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:15a4bd0c-5755-4b4b-b30d-a56045139aed phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:a12b127e-1b28-455b-97ee-20441ff53090 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:42520e0e-d67e-4d6a-83c4-68ca12781b1e phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:cfef6662-1670-441a-adef-1d67295effb0 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003555 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:9ace0df2-fd41-424d-a0d5-39926acafdd4 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0031318 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:4d2fd851-7cc6-4bf4-8597-4fc664c9c4e4 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:82c82637-88d2-4e9e-9f75-b51f56826b32 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:f4d90d38-7a3d-4b70-8b9d-9cbb99bc486d phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:79877060-8d2c-4aa8-9401-4ab4a511c963 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:a6180cec-b301-435a-a7ed-62738abfd8db phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:5b13ab17-e7ca-445e-a97e-fc1b0f061eef phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:b37a6ded-becc-4ea3-8adf-3e62323e9873 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:cac307cf-7e5c-4f1b-a718-887977c654db phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0030230 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8642db8c-2596-413b-956e-c2d3edaec4a6 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8732b0a3-fc18-4e8b-a04e-e16a3dcedf42 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0033685 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:ec93de0b-c951-4d9b-b8c4-565129f747a5 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:0740bb3a-d99c-49d0-bb5f-5896d0755728 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5cf5dc4d-8e09-408e-b28a-03a9683ca585 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:614d1b6a-1983-4d19-b3b2-384442f2be47 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:e6829d4f-8b1f-4f39-9288-34399b017808 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:358e07ad-cba9-49b6-8d57-a653ce77a1e1 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:3d2c2f8b-7d6c-44d5-9c33-7ca7901da811 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:88395eb6-7b55-4bb8-ab3f-ddfa4c3b6fdd phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:5e36aed5-2f76-4ef0-bda2-a1b23220834f phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:9e93760f-640d-48a9-aef1-e2d3c56e7cd1 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:b028eceb-b3c5-46d4-a5a8-8a920b195080 phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:9bbe0a7a-4ecc-4414-afdd-021a76fac42d phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:7698bbd7-c359-4864-b6d5-128e0c904ecb phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:63ce1286-b237-49bc-8e82-38ccd4fab02c phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0034392 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:3d250bd4-7451-44b5-87eb-edf359fc6ab1 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0000709 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:5b6ef577-fd65-4fac-9a5a-b105ebe395e6 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23378224 uuid:9de4e173-d359-448a-888e-e43df9640b96 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:f386a861-f60c-43f0-8894-446ff27c8cb3 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0030051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:f0bfc20c-a510-4266-8637-9dee6222aebd phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:61f55d0e-4364-44b3-83b6-99756144e1a8 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:0ab2c3df-2097-4f02-8417-6f41f9446289 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0100753 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8de9ceb7-2e38-4b03-bf9b-2b4e8a59d01c phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:d430f40e-b9b6-4c29-b96f-35b14e132d7f phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0002942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:1615d8d1-53d6-46eb-b6b1-0ff518476c66 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:8173f1e6-daa3-4834-92e5-5c9ed76f2d88 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:940c0cae-94eb-40b2-bd33-57d24879d252 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0003738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:3037ae07-66ea-46b6-970d-4fd3f93063a8 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:4570c081-360d-4c13-b2a0-3e48aad77691 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:fb778996-faf6-4733-b6dd-65d6c3d1f8e1 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:e748c570-ff1e-4438-9e8f-4ec4c46391c3 phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23378224 uuid:3419da9a-5330-45ea-bf58-2ea833811cfd phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_disease OMIM:609285 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:0dffe712-0d31-4856-8112-9fa359d25cac phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:has_gene HGNC:12011 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23378224 uuid:557a0655-a5f2-454c-97fb-7d6aecf6bd34 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24239060 uuid:c8721cb1-42b6-45ed-be2c-581a1a0a84f7 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0002359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24239060 uuid:75cef5b5-79c5-417b-833a-51776dc04dd3 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24239060 uuid:eb89a1a2-fd2a-4723-a651-9af85da63989 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:6966b415-8806-4d51-a170-08c2cd08b034 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:cd387a2e-54e3-49a6-89d1-eb8c6ba9484d phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:f994d68e-eed1-49c1-9269-e3746c0ac12b phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:37eee029-0bef-4e00-b6cf-8fe27dc1e31d phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:4677ad99-73a8-4869-a44d-8b8eba7e78dd phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:726d1aec-ca2c-4380-921e-08c87daca53c phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:877ed3c6-152b-42ba-aa59-1d57fa006349 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:6000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:b1748e8f-c4c4-4403-ba8e-5ede9320a697 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:21560ecd-63cb-4c55-8acc-330baf303b86 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0003551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:94d65121-c405-4108-8ef2-a4806fd4ead8 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:91e23f34-50a4-4ca4-ac9b-10fe1403198b phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0009053 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:908d5b7f-0f14-4a36-a18e-2b4d339226a8 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0003803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:6fa8e19f-ee61-46a4-8bc5-cac44255c97a phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0012548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:24239060 uuid:93d7a00f-35f5-425c-bddc-6c94d63bfb39 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:24239060 uuid:d608a906-a9b8-4e10-a1f5-8b3fea624134 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0034052 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:7397b9cb-f13e-4d24-a5a7-04f41f9d1e30 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:cf4f7eb8-6c59-49e8-b594-57b65f261de7 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0002913 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:d9fea388-2b1d-4efc-a40d-c83506b77a15 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000651 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:afbecc1e-fe09-4c74-b9b1-ec7540bd44be phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0003326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:2bde06ac-493e-4702-87ee-897c785ef9bb phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:993e4342-1cd1-4712-b1ca-289ccf1c2b77 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0030319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:a839fd06-4501-4527-91f9-d7b87f9c3bdc phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0000597 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:f3d2593d-57a6-4edd-bcef-ecd38d8ae461 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0002495 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:1c3c050d-4790-47a0-a26c-7b417fb904b6 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0010830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:deeb0cbe-491b-4e72-a296-0fc4a5ef68a0 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0003391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:ce766354-f23e-4e94-b6b6-8e1b82f3f60b phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:22739ce5-6882-4795-be70-7d3c5c1c32b5 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_phenotype HP:0040081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24239060 uuid:5086ba07-b16e-44c2-b25f-b748240f57f8 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_disease OMIM:609284 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24239060 uuid:c01d1415-7dce-4185-b79b-8e0c2160bfc6 phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:has_gene HGNC:12012 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24239060 uuid:28ea65d3-d05c-46a2-bbee-1da7545ce073 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:784e3d3a-c0b2-4e05-a5db-383db0a8e1ce phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0e1971c5-3fb9-4818-bf3e-05d65b00da06 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b017052c-d460-40f2-b2dd-522cea32d461 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b5e12e11-6cd6-4619-a5cb-94735696f1ba phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b817516a-cba8-4b59-871c-a82f5a132b96 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1dfc1681-5253-4641-93f9-158e3dd7bd08 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b94bd94c-b121-45ef-889d-0236628eb62a phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4f1911e3-52a6-4516-ae13-a3ac0e968d04 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b1cd955f-a20f-4b66-a3cc-29ac080d1945 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2ea6c39c-d4a3-4676-bbf3-7494511d6b79 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5f2e5d74-2aa8-448f-bc1b-70511e8dd5bc phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:58a1e91f-4b5a-4e89-b76b-df93f1893107 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2bb6adf2-1784-42f0-a048-e91271c74284 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:23f31c4d-1915-467b-a06a-7d909f09a6e8 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a65f131d-53fe-4111-85b7-b68d001c8216 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:425e3d4d-f4aa-49cd-9380-3dc31f54a44d phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0005619 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ad6a0de6-ca53-4d21-a8bd-d3b82c72ff14 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0005257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:81898bab-0eba-4f41-835f-9133f07931a6 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:11dcfef4-a7d4-41ee-9240-ee0b996edd0f phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1d0c9615-41bb-44a0-a684-8e0b84c901cd phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0002680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2c5250c3-151c-4466-b4aa-fc56a037f37c phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4cbd41b3-7539-49d4-adf0-f9c56d8c0156 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:43adee97-dabf-4be3-af54-4f75dfff809c phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:618e8287-8f83-42c8-8dde-26ad18fbdd6f phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0000034 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:04d37a08-e8af-41dd-80db-5859bcf9600a phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fa83bd30-3c55-424f-bcf9-5af93dc27135 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:bdff50dd-a750-44f9-9e8f-89712fd5cf11 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:1c810984-15fe-494b-bd6e-26400f085b75 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:5bab158f-4faa-4228-83a9-e556803bb8b4 phenopacket.store:TRAF7.PMID_32376980_16 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:c9c7d6b3-cef6-46b5-a877-311820c849ee phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1ba660c4-bd80-4535-af3d-5097fcd5965f phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cb9b6959-f36b-432a-aa3b-ac5b68818786 phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0001254 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:76123d67-2f05-4b19-831d-f562ef210833 phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2de8c6b6-f482-4569-9230-f2cd11fafce9 phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d8e473a7-fff5-467f-882a-13db096503e1 phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a08eb224-e813-47bf-b31d-9b04fcac387d phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0100806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5342e374-0502-4b10-8012-7b9d790c1edd phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cb63b18f-d685-47bf-afe2-bdd6d2546ddb phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:59a3983d-dd6b-4f1f-9463-7e954c161818 phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:155ba16d-8a8e-4fa4-870e-66415ecc71fc phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:949f9046-7969-4980-b891-3019b5dd684a phenopacket.store:TRAF7.PMID_32376980_7 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:493dd733-e052-4ba5-9165-7aef5fea913b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0002904 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2976399a-5e08-4ba6-beb2-fc578aa4cb37 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:de8b059e-ed6d-4a0f-8a07-1a1b0d540d6b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a1429830-9095-42f5-9526-a68f4251348f phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:075ddd25-6aeb-4d24-9ac0-3f07cf2de8e6 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b45aa0e3-8fea-41f7-a2a0-e0031a475143 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8686b6d0-d5c3-43bc-a5bb-02f4bf24ba62 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:883e3c55-6c0f-4643-9a30-be03a388926b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c4250e8c-f8a2-4cd1-afce-aad1622f22e4 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:950b43c3-8b72-4743-9b4d-13a4cf29a089 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c992ba20-3813-4095-b118-ead66fa99120 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:79397119-ae38-4a8e-a0bc-41d751c52d08 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:679c076f-8a79-450c-bfb2-8271724c43af phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9652e681-d0be-4b53-9da2-cc5ffa43370b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0000698 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d96eb781-45cc-4e3d-aafd-8dd106dc3c15 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5f03fb70-a0ae-466b-9fca-8c01395c4caa phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0001377 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:55ddaeb9-ad99-4d6b-8a27-6240b672301b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c309c502-9e6f-4844-9f1e-4e71e84fb87f phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0011636 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9f08e96f-33c1-4a2f-ad07-5462bab3e0e4 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0008513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8d287df5-3b02-4ec9-8414-308d4714afc0 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0006532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5e303144-a0e2-4767-904f-cebd497465cc phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:9c9e78c5-283b-455b-afa9-f2f104efe36b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:f64868c9-3d78-4ff9-8bde-77b7e0b5bf09 phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:ed61f05b-9c9a-4b9e-b18d-c819a2fb613b phenopacket.store:TRAF7.PMID_32376980_15 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:6b0f3033-36b3-4b5c-aed7-c6348e12d322 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8f38133e-cb87-4647-874f-d2e7b2169a66 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c525f389-52dc-4518-b389-22a0467202f6 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:97418f59-8d6f-4f20-8dd2-b103954d8b03 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:25acb874-2538-47c3-900b-cb4095578268 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:926b3546-7a52-4f24-8ac1-e75c7ac82cdd phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3749da67-1214-48e9-923b-d40149962618 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0835ae8c-5370-44d7-883d-92453d5527fe phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c5fc9637-8210-4d7d-99f0-90d2b1bafa36 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eca73c89-0d97-4f32-982b-4d9cd3b9284c phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f58cf8b5-ed63-4cc0-aa44-64abd73e3dd8 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:28876071-94a0-411c-979e-d90446a16095 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:209e6180-42ed-40ef-b894-28b5f6e1620a phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:24ccd833-79af-438d-ac43-7e5439fde67e phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8f2b0344-8386-4280-87e9-b019a887e18d phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ac095fed-037f-4a44-904e-820dde6b218d phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:740f7688-f5ca-470d-9a4a-b622984d62a0 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:525e9331-8233-41a6-82bd-fb87796f352b phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:b92dd832-a01a-46ae-b832-26c35c489f71 phenopacket.store:TRAF7.PMID_32376980_29 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:47e66b12-0086-49b2-8477-d377857162b5 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:acfe58f7-b554-409c-9af6-87280f75f8ee phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:15c9cb8b-5c4f-4aa6-a5d2-aa24258511af phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:13a9c20b-ee29-49c7-bfe8-d88e3a4d2ce7 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0f84cfc4-6268-4f6b-87f8-441edfb03543 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9707e875-2c5e-4151-8e31-36d2bba96f65 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f38fb13c-d0cc-4d4e-aa17-345fabc845af phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:43393c85-0d3f-4cd2-8072-a6d5042be651 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c0d3c378-2c3c-45ca-b70d-ba2b0204e809 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:abf3a0a0-b71d-45f7-aa63-012245c927c2 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c90bbc4d-aaf0-4d2e-9082-b1605ec65f60 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c5dd62c0-e1cd-4049-9710-4a456ade8544 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:31b697bd-1118-4906-bf2c-0dcdb098fbf8 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4428aecd-c11d-4157-b3a8-baa4f7dac329 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:68aed4bd-7c26-4605-8284-55aa29f4806d phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ee083120-27f4-4112-93a9-b363650bf03e phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b942535d-00e9-4e42-83dc-5e30341914af phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0b5a8c68-c864-4f32-8835-36819880dfaa phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7750df8b-d754-4a33-aecc-c56470ccaf8b phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:f3407801-7929-4fe0-ba6a-59a9ab5b93a6 phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:2df4afdf-dd59-48d3-a0e8-5de02a82fd2d phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:f8f1e68a-5a45-4264-ab72-0b37eef18f5f phenopacket.store:TRAF7.PMID_32376980_3 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:5dc9c14c-cde8-4913-abde-3bf419b3528e phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0011098 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:45f87adf-0de9-4f40-81aa-1d9547c4d4a4 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:753e2d02-e4b2-46cf-9e2c-dc870a0b5c01 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d2e0f5b9-2df6-4fb6-b023-51039e8aa01b phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:34e6895d-abfc-4ca6-bb30-44e4fc1cd94a phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5263b8bd-ba4e-4453-bade-1cb446d760d1 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0892095e-69f8-4107-9ecc-d12074d238b5 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f961d573-ed75-4a01-88cc-1169a45c3877 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:04563244-68c3-4cba-8feb-0ef72a0e3dd8 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f699ecf4-c9f4-489a-9902-9aaa6468012c phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:690611b9-a0fd-4ec6-b406-21ea5d2dff02 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:549775da-be02-48a7-be08-652cb8160ccb phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:b41d1599-2fb1-44e5-8ce1-9a8287589518 phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:01463f0f-b66a-4671-af75-cca5b616dc8b phenopacket.store:TRAF7.PMID_32376980_28 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:ba9238d2-5f8e-43d2-ab29-590039fba7ac phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b6abfa38-328f-401f-98b9-47eee3608f87 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:09f70364-4568-4a22-af47-1d27899790a5 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2c8dbc53-c8f3-41cc-879c-100d99096d23 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0004689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:73739e0e-a3bf-4474-9588-b9313c2d04ca phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:30f316e7-5208-4d82-83bb-4de32f9ad07a phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4e2063fa-3074-4b09-937c-367cbb1f5cf8 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:61971459-564e-48ee-8107-73fa6ff0c3c0 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0004416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cf9865ab-7e76-490d-bbf1-e94ebcf6a8f1 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dc133bea-919e-4312-afe9-4294e1a912f6 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0030891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:56d7ae42-b1d5-4e45-9e71-ddfc5995a491 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2314a798-97c2-428f-9f8e-bc2ebf8facf3 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0b24f63b-460b-4cf2-b616-5bbc630759b6 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:18046b59-e30e-47a4-8ff6-0f3f3f1759fb phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bb55d966-85bf-4ba0-9e20-d7e1564f2343 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:49466549-bb10-4122-95fd-a82a75e540ad phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:1d0abaa1-d276-4e7d-9c60-1b3ce2222797 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:c8e11ad6-4385-4241-a6dd-bf3ba0652992 phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a5e5f4b7-dfd9-4a3b-a7d8-c4fde21e5f38 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0006184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ca8cd048-cd71-4cd6-a513-663dfb737893 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:00f256df-0255-4c11-a5c8-7c15aeb2896a phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:04100898-0b62-4120-b394-ef7a07b04f12 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9488f674-a090-486b-9384-47e69c3f916d phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2e7a74c8-b6e9-4b36-9808-b385dc3f49f8 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:81986d5a-ab35-443e-aa97-f49991048a2a phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dcebac75-26f4-49cb-b950-60899a4ba1ed phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a78653f8-609c-4825-8a81-b7e8552bd133 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f378b99b-3d9f-43ab-a6fd-99996fbe35eb phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1b1d7da5-8e42-465e-bff1-f1cacb1b2f77 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0002677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:31d90117-6748-470f-9ebf-4e5a6658c26d phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:590c1c1f-3850-41cf-9894-fc3f7a9f18b9 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0012366 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8b5a6324-0983-4278-991a-8f6165b5f98e phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aba26ca1-4623-475e-a221-034392f31c74 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:abc6a121-664b-4bf0-8585-f44b13f9dce1 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ede940c7-c260-48dc-bc4b-b6b12ef5536a phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5e85f451-2cd1-4935-a18f-e546799cf405 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d6ad2cfb-9707-440b-b695-b1791329c30e phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6d28be59-9881-4e55-a578-30f6decd1e24 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ace8f9b1-9414-42d4-8a8d-7f86dbccf672 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0001298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d905ce3d-9ea6-4edd-9cf8-f551c2a89f3b phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8484744e-b89a-4186-b3d0-f530907828fc phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0010445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aeb75b3a-52b8-46e9-a0b1-58c96cd3f3c8 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0006699 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eb6f1faa-0b35-4bcd-b6fb-ace17a717299 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:64b8aba9-03d7-4615-b9a2-de9ec1679629 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7c9c27e9-48c6-4a02-9d7d-e44f051ae5eb phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:72584287-8bd4-4828-b149-bc3fa1b337d3 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0004396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f9a6ebe9-7377-4aa3-b440-b5cb20abbb12 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a84e8904-3525-453b-b5fc-048532876ab4 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:d15915d1-61e3-4325-a7e5-e9a4d6fe5806 phenopacket.store:TRAF7.PMID_32376980_41 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:18564438-6cad-4849-bf13-d6c88b88b7e8 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:17befd68-e241-458e-923b-bd46a23e0388 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:44299717-7710-4a7f-8262-1ee8dca9b7bd phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1e38d648-a536-4e77-830f-041f91f9ff48 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ba1e2112-6278-4e4b-873e-0055ce0ee0a8 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0d4dfab0-f733-493f-801b-be18b8e8ca68 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8200a249-2fad-4e66-a862-b6f32449d955 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8a02c061-12fc-48c6-a7da-6b5f73df1a8a phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0011051 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b3d16bae-89fc-4322-b306-e7062f0b6dd7 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fb1670bd-64f7-4c4e-bdca-16f9d6a2a95e phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0010499 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dd02c56c-ce9e-4610-a77d-f764fc7ce8e1 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e991a278-f814-4d57-b823-cda1ac476610 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aea29c68-4894-45a8-b66b-a576168332bf phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d1b8ee5f-a447-4cee-b8ee-eb4e73738123 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f83375aa-4e58-4d80-bf32-160d4897f094 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0002287 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ca2b05be-ca0d-4f13-b999-523f164ae37b phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:7dfec269-4a03-49b2-916b-208283cc966d phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:ec2755c6-43e3-40c9-a0d3-30eb06e0d3d0 phenopacket.store:TRAF7.PMID_32376980_5 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a5cbd506-4d4d-4d15-853f-40543c3c0887 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e6183148-c2cb-486a-9de9-6851d5acd532 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:233130f6-7717-4169-992c-205937f5fe58 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cb8f274b-8628-43e3-9e88-48dc6927482e phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:25a85f69-77cc-4eea-a7b7-006cbbb3a448 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c26938f9-9a62-42da-a7fd-4de7c38cff33 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1cbd929e-8339-4b68-b33f-edd89f283443 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0002558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7cf16d55-597a-41a0-a718-ce1753c367d2 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:81984f9a-795b-4452-a3d8-d89c94c92ac0 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:db9423a8-ee79-49cd-a141-ae056593bb25 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:44b979b8-57b6-4745-b802-9eb5078e4efc phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1cc0fcca-1334-45c0-bd1c-b88ac64e25f2 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d49c6589-b6c5-4062-b5a8-96cade84f6dc phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c20c486f-6a4e-41ae-a742-67f8455ef171 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:36fa9ab5-30aa-4eb0-81d2-cc8fc553c960 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d391c0c9-22eb-44ff-8745-a43509e32129 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:02e9067d-4380-4c9c-ab5f-1824a2c6593d phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0007911 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:97f599c2-ca18-4db6-830b-5fcae2ba2032 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a754c307-2a7a-4d63-a586-f19ad74e8967 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:8f298cae-cf9a-4de9-8944-abd9756c5583 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:ba16c6bb-ea81-4276-bcfe-ed9ac2b321e4 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:1254fb5a-65dd-4cc3-bfb2-cab07019bd56 phenopacket.store:TRAF7.PMID_32376980_34 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:d7332c48-bc1e-4d7d-936f-7bb87ea686d0 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6e749a2b-0849-4bab-8eff-2453ca683fba phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c33d3848-e5f7-4e25-957c-bbf784dcd83e phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5b0ef3a7-d957-49c9-a062-6b0e7280b81b phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6bd37ff0-aadf-4173-ae00-c9777bdbced0 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3833337c-1c84-42c4-b0d9-d72e4de455b6 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7140cbdb-b0a8-42db-8198-f0fd9fa23055 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dda1f652-d038-4d69-b992-b3d08d95ae2b phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f135490d-eaed-4c40-8a15-036d37d9cc2b phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8c9d9191-b8c7-4306-8c69-02b04b3c3c60 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ea03bb5c-6e34-43af-a454-35f63312a400 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f566b1fc-cb83-44a5-aa97-3103a7a20fdb phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:80eb368b-a0ac-4f6c-aeeb-f3dc0fa2a1aa phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:264f0dea-094c-4928-9086-281b601ab31c phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5ca574f6-dedb-435d-adbb-e0c209ea7e22 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b69c6e19-5ef5-494e-8847-5b547847f5f6 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b0abb5c4-e5c5-4456-afc8-28e0a9acaa12 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a70bb461-40d9-4442-9e6f-c69608622cea phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:23f3957e-9c7b-4c47-8029-219243afcec0 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:55f3a2b4-b454-431d-a027-28bfcd19e582 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e548c0fb-b156-4566-87bb-b7204ec228ef phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:215e6c69-fc7a-4e6f-8d34-68e28bb6823c phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a2dbe5ef-5815-4e4e-b91f-ea174ffdbb80 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:55fde7ac-65e8-4415-af5a-828319399d2d phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5c0344a1-baaf-4166-bda7-8cece6839d7e phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0005257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:064bebe5-225b-4478-b7d1-81c818b0eb32 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:56ba95c5-962d-4c22-9bce-a131e94b90b4 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b1a4f65d-bd7e-4fa6-afe1-e75a204a9b45 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2848e41d-a488-4926-b8ea-eb3ec25bf61e phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:c9243ad2-0960-41c0-8003-71143a722d35 phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:2dca0f6a-f2dd-4138-a854-2bbcd2f5135e phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d49a9fc1-6187-48c6-980a-238619a44db1 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3a39bee5-2be2-4166-b8f4-cd2df5ee83ac phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:05d70190-471e-4bf5-bea3-82752dbf1006 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6d2bb99f-1887-48b5-8441-1548053a2368 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:86ab21f9-0c94-40f8-bfe5-d0f96670e68b phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dfef448a-41ba-40df-b950-13b7229324e9 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0922cb9a-daae-4ec3-9130-e18cb8c1a471 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bdf84e0f-ee7d-4d6c-9154-566cb1f9c75a phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1d9e16a8-d6fa-470d-9df3-f1bc47e4f6d0 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9247c99d-dc43-4786-a6f9-78d2032a9637 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:6000299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2da8257b-b6b1-4a4a-88bf-88ea022f8f12 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0897a6d2-2d83-47da-ae64-eea549417ed5 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:b5751f29-d690-482c-87ce-9214979715da phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:e22fa10e-dc2c-4979-af98-9db97f595092 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:2bc9cb68-6564-4ca1-96aa-c7a92d5570c7 phenopacket.store:TRAF7.PMID_32376980_37 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:79a4a07f-2f8c-4e85-9927-85ecc750e9bd phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5429c387-2401-4214-bc1e-dc228e8da8fe phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5c95913d-d599-4c10-a98d-ba8aa3a46be2 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2e512b78-2394-459a-a5bd-e78dca516e35 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d3ff462a-469e-49a0-b2cc-0d831e459f63 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7594450-dea7-4514-b7b7-83c2dc3affc0 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d0479a9d-1e0e-42c7-918a-b3e5027e7028 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fda89c92-fa15-4d0e-8417-538ec3c8f0f9 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fd2cb74b-191c-42cc-89ac-b1abe8c85566 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2b07ab4b-ea3f-4fa3-b97b-605f4154b944 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:55f5d2ea-c00c-487f-8e45-55814bd4daf4 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c3e01b0e-7605-4852-95be-70098dfaa5d2 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d0929259-7ca1-4cf5-b6c6-87872551cbfb phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:af621ed4-ae72-4e19-adb2-73053069a56a phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e5d91610-1945-4879-a33d-0b34ab2781a9 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:352b90f0-dcc4-418a-9891-df47793d12f6 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:34783b0e-012a-4798-ad8c-d9e8bc17e490 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0002089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a6abffe3-6804-4fcb-99e4-340ed7224d20 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0613b53b-089f-4c27-8798-449291d9a09d phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c36fcddf-60fe-4a60-8b7d-41aad84ea705 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0005326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:563f54d0-555d-49ee-8af9-1fbfbb53a71f phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ceb7f19a-0bf9-4108-8575-7b7c30d13661 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:69f00d24-fe28-4478-bffb-b2feddf2e999 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d42ae8bb-b9a0-4f0f-9041-35b57bec0bff phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0004942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:963214a8-423b-4f4f-8d97-0da5fcf495ee phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0002948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:26bdc1af-6130-4258-b708-06b170a296d6 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bf123958-3eba-4417-8670-5df9c708afd3 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:96d1a250-0f04-4f2b-8ae3-922dc1884bcc phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0002788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3b2a4eb1-29ac-42a0-a86a-b320f3a79e85 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d9885f35-d143-49a4-b7dd-266c9df4f38c phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:591044a6-901a-4529-ad4a-d8e8af8995af phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:34344c09-b5fe-4432-9028-846052513e04 phenopacket.store:TRAF7.PMID_32376980_40 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:4665c6d6-097c-426a-937c-7495582e7230 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6eb0acae-9313-46d8-af5f-2aa72f17900e phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d4da4210-0ba7-4f5a-a2f8-2e46995c5e82 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4c8029b6-4933-4c0e-bb4f-156d05b75288 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bec54543-7c85-4727-b4cc-e1575c5265f4 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9df8cb18-a619-496e-959e-5e9711ff4c9e phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9e5cb312-6a4e-4aa0-bb17-f6f4df20ebd2 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ff8fa55c-b9a5-40ef-ad73-71fc98569ada phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0f914dfe-cea6-4097-9a01-1fc723386d8d phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9a44a5b3-3aab-44b3-8578-af29fa6521f2 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:88d18135-178f-4401-ade5-3cdda7bb76ac phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:19d0ddd7-369b-4891-aff7-7c0ebb060c98 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1d4a3f36-ef0f-4490-a8a2-77a5910632cb phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fadaace0-cb14-459b-ab8c-92022c668499 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7e9b1c6d-b5df-491b-a35d-d06c48ea7ce7 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0005819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:96f06743-7e84-44d5-87e1-e0dcafd09b8b phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7669845b-efc1-4452-84bd-df5fe35b3816 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7a493add-ce3d-49fa-9537-e12af3a942cb phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e93cf5be-4b34-4cd6-a8fb-506fd178a5a5 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:69ea139e-73c3-4810-bd30-b9b7ec685305 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0e7cc32e-c702-4cc8-8dca-cf34e860a1ad phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c2c5a99f-ec6c-4cff-9977-2ce4dc335294 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:ace05ac6-2868-4bc7-a1e1-43cba9035bc1 phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:4fd3316c-0af3-4901-b302-da8e0a4332da phenopacket.store:TRAF7.PMID_32376980_38 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:10a4eb7d-49ac-437e-a776-82c9bff93abb phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8c446227-7260-4427-af3f-92bbbd94b7f4 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:39008ea8-01d7-4ee5-9a15-4b95a25330ef phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:032d54d7-25a4-4a7a-9ef4-a298963a2f0e phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a3cc12d6-bc3d-4220-8de0-cbcdc0f00be8 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b15d987c-d397-447b-89ed-3f31bef1edc6 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5e6df9a8-8d84-4958-894a-0e890fc033b0 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:23b70747-6543-453d-990d-ce84561ada35 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0005617 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f48b6ea9-904a-41cb-8e57-8f7a15c2dbaa phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bb2f5c7e-df24-40a5-862c-c827d8226c6d phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8475daa6-3f5c-4f3c-be25-5b5531cdbd5c phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:daea45de-92f7-47ec-a97b-7200f255150d phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3021ff2b-a10a-4db1-9fbc-b077411ff371 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7c4360dd-c21d-4cb2-9bd1-35f7842cafab phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0f194e4b-75a4-40b2-befc-ea9051a739b3 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:098327b7-b0fb-4e4b-8de3-a0e21cb38942 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a9125ba9-242f-4708-b30d-f4b4fd6ea8ca phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:298f57d7-a513-4ea7-a3d0-7401db7d63a4 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0033128 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ecfefaf1-a42a-476e-b18f-39f032f3a91c phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dc90f57f-8c1b-466c-bc40-7866422da90a phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e1cad5f5-c3a5-4123-9d6e-2102f916e2e0 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:488520c2-38c0-4ec4-ab8e-d10064b82194 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000973 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:379dcc6e-a689-4c26-94e0-1ba21a8f2653 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7ba7224-2153-42aa-93c0-989ca7b0674d phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9f73c81c-b198-4a7e-b43d-3227476979ce phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bddf9e0d-3477-47ac-a2f1-a5e36b4c6992 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0009774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:56e83860-056b-4506-8dae-323c7ba2a44e phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:944c8935-970d-4c7e-a449-580236d574ef phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9da55c93-ddbc-4862-9ef3-e471ae5ddd2b phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0032276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2a24cc85-54fb-4899-abc7-38a3eccfcc23 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:41d18024-ff71-42f0-b792-2b9df9ee0e20 phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:4518ee21-289a-47f8-8d5c-340966b665bc phenopacket.store:TRAF7.PMID_32376980_20 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:052abaa3-832c-43b7-aa63-df9a640081d2 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ecf653a0-21e7-4297-9de8-672d670df70f phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:42466b5d-c942-4240-bceb-064d3f6dd27e phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:164da3d5-009c-4b81-ba0e-bbf4776672fb phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:64862ed4-789a-4229-b330-233a396dbf01 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e29a708c-b73c-40e9-8156-c15a33288178 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:faab6159-3f38-4b9e-9282-fdf14f1236f2 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4646ab1b-0588-4ce5-b609-2c339a6e6d43 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8e722367-8419-4919-b9cd-251c4d783a5c phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a4272f42-50a9-41c6-b988-909c4b835a60 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0001047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:143e40d1-c266-4fad-b82b-69ae09a7a8ec phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:c7256a2e-e793-485f-87c6-543da378dace phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:954a5047-e2b8-40fc-b8fd-9be7fae3d205 phenopacket.store:TRAF7.PMID_32376980_44 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:84403db6-d34d-4286-980f-cc6a6aa1c36b phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e66f3e0c-8955-4dc3-9597-832fe941d5f3 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d6fa51fa-dc78-4273-895d-512a1b80d003 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5cdc9f4c-9dbc-490b-b247-16433494e27f phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3047b247-72b7-4e15-be4b-b4f1deef4eb8 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:708c3947-b1cf-4d46-97ad-eda7f1f06d9e phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:620cc16b-f7d3-4aa3-9569-51cbecd68d08 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6f1aaa34-7412-4b24-996b-dc82596948bc phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6f3508e7-f641-4840-8c96-a1fba07992f4 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7e34243-01a7-4f66-8d02-749c7ca4ebf3 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2223f7a3-7e86-4a21-a34f-d657380be426 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:df907309-d961-4f6b-8f8b-157a5c4b41e6 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0009891 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:909b25ce-1678-4655-918e-4f24806bd605 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:97a0c578-bad1-4d21-b49e-227947414714 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8e470c53-8563-4fb9-9b6b-c874c7f7dd3a phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:deaefd89-c5b5-41c6-8c76-2e5667abd945 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:85c1c185-24a2-4f12-9331-5f8208e78bc8 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:31cbece2-9b4f-460f-85cb-79838845ad2c phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:60dcc34a-0624-4454-b084-f81e93653baa phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:913b9a5b-a508-464a-b25b-91f8e474b31b phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ee1939e3-071e-4a5f-b744-583c7052bee1 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0008081 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:04b6656f-052a-4330-9ef4-63387ff32905 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:001dc180-a077-4688-90ba-6c2637969c5f phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2939f454-42e4-4f53-8f38-54244735ea9c phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0000883 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e553a79d-ea6a-4a80-9eef-154ad348b04b phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0020049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7b289dfa-d2c1-498f-b1ca-782b0817caca phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_phenotype HP:0008665 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:521cdef1-0794-4aa8-b766-d150a41d6656 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:e9da3e50-7b38-41ab-96db-c3ff9d351fa9 phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:055869f1-6794-4ac0-b2fa-012ca78ea373 phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0012498 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:347b8e0a-9372-4649-a49b-4665f81577ac phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:904ceb97-d6f0-4e97-beb9-6b6830931ecd phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7ec7ad04-7e29-4dd4-bc9a-c5f74a1097db phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8b68df12-2084-42df-90a5-fad22bca4b50 phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c524965b-07fb-4e21-9de9-efbcd9016e67 phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0031165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f9bdb02d-81c4-44d8-b942-9377c66e2e7f phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0002521 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:20d5a616-71bd-40cc-8afa-5448015d3c41 phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0007616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fa6e746b-785b-4eae-b4e0-f5304f75a745 phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_phenotype HP:0001776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:17962512-afc3-4e5d-a388-9ed9a3cf8256 phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:ac2e68b5-7767-4fb8-95ec-826335301e7a phenopacket.store:TRAF7.PMID_32376980_2 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:d3dc0e0b-d45e-4df6-9c56-e075359f084b phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:361e8388-f4df-46e9-8263-c709ff3e6b86 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:99d7e0d1-2775-4ce9-ac6c-77227ca48af6 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:426f9775-5408-47bd-9d47-9c7dd504c4d6 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1c0e5f8f-ab83-400e-b2d1-07afccdc254b phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7cd9817-21a5-4e6c-b7b1-af965e6e7d1c phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8b67b82c-f330-4776-8bc1-bdcb1d4afed5 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:700c239f-c963-4cb5-86c3-d57818e69050 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:efc179dc-2153-4484-962d-6e92a13ad16a phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0bb2ed3f-4d72-4132-af46-f0ab6153e4f2 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:71184a06-00d3-4bf2-b3c7-01f4f1ad88ed phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fcd447ad-41fa-4d61-bdb8-7e5fde528fc7 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5731533b-9c1b-4cec-8c95-65e028bc4f90 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ab2e71eb-41f5-48e7-9133-3a176144a78d phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eaba7269-e2f5-4cc2-8fb7-1ea92caa19d8 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6dc49ba9-cad5-4036-ae26-180d69af6609 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:67557c1e-030c-45a4-b1a4-c40610061c14 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0011039 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:933182bd-e4ef-489e-96a3-6dd25070cdbf phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:784b7967-3bb9-41b2-88e8-088b54ba1365 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:25c04e82-74d7-4fd0-9c7b-756c31be9372 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:11d6c653-6184-47dc-8717-682f9082a952 phenopacket.store:TRAF7.PMID_32376980_27 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:e1940ccf-f62c-4bc9-b781-c5f410073436 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3ff80d89-0983-4cd7-acee-e4473d5e6aaf phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:71f70ead-4cee-4028-bce8-99e1889e5859 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4e2752ab-90ab-49d9-b736-9b91b2d7bd07 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0daf866c-c1a2-48bf-87ae-b34499fe946f phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c833a9a5-f97f-4b18-b8ba-a0ea63eeccd0 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9d3ce134-3189-45fc-9ac1-fc673f45d248 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6d82c927-04ae-4915-a6c9-07674bd0268f phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b8231891-45be-4a50-bce3-4ee800d4b754 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7635b408-9bce-44ac-8183-2da2a6c303e9 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4843ffb5-bb0b-41b1-8888-f96dc93df9b6 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bf1c57ed-51d4-4cc3-848e-d44ef1e1b124 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e574bb20-c759-4569-a89d-9ca8d3f4043d phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0012871 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2c495061-bc33-498d-b384-52eeb02c8bcb phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7ebe9c06-1ea2-4bfb-b878-c103634de43b phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:a2a19768-f30b-4ced-b49b-8a22e4f085eb phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:9f71f082-8475-40e4-860e-7971a0180829 phenopacket.store:TRAF7.PMID_32376980_45 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a933ff92-ac98-4812-a7a9-ca32d7d0577d phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:453e15fc-b0a0-46a9-a0d2-7bf9eacad56b phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4c73775a-4448-4c6a-9a5d-fcf4032cde88 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3f338e85-5026-406e-a1d0-e81644338e35 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:857eab7e-7c88-4798-95b8-0ef468b22201 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c9809176-bfcb-4ad5-bee8-5af728ce7cb1 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f2f01298-f01b-4770-8d64-28b4cf2da704 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c9f29a61-a5d5-42cf-9d46-85290cd25cdb phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:71199bcc-25d0-479c-9e0a-535030f66763 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0001357 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f2dccf37-61b3-4ab3-8f7d-8f1ffa52436d phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:522d442d-b9ed-4b33-8078-2b2cef117b7b phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:da298fe6-0ba9-4524-9770-f2439459e3c7 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0009746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b22528dc-1038-4046-87b2-500676090e46 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:989f180e-2263-46f3-9147-16b701cb7079 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3a23e64d-bec5-4006-8c43-b5aab10b14b9 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c5208c37-0c08-4941-bd63-27e7be834a78 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7d42ddc0-bba0-4260-bb4d-832ae25a0421 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000914 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:090b67c7-e4ab-4b44-bd47-4a9a7906bbdf phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:66cebc4e-f322-4e07-bc6a-1d6430f59981 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0b66e371-773d-4b41-8c77-44290ae2889f phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4d5fa110-d67a-4f57-a4b7-487d8123a8f4 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a0d097f6-a219-4bdc-84ef-953add40f6ef phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:a760be5d-2119-4277-903d-2d4223636e96 phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:247cf0d9-6d1b-4aec-90df-7690c55d203b phenopacket.store:TRAF7.PMID_32376980_21 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:57ee101a-6961-4c6a-970d-1689dbd32294 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:23e72414-c733-4ec8-9e28-152e4ec0bc69 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3c57d43a-3987-44b0-af19-ba5bb2d5bc91 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4bdfc061-4adc-4b59-b05c-9e2a178cc803 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5e63532d-fe18-473f-a8d6-44635c2d0be8 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:59cc729c-1985-4891-9b12-58bbd7bab5da phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0004712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:acc4b60a-0b20-4468-8c4e-7af5d78bd2b9 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:db0f7aa5-1e25-4361-aead-a4e869d5a70f phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:52d9cb77-17d8-4f05-9b41-679d2f3d5bd0 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ba84b3c5-1fa2-4261-8f5a-d1d8971ca508 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:53ef62c3-407f-46df-adce-61e78eaac0dc phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e1a8f926-c19b-4bab-9768-e9d398171909 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b85c1aae-af48-4e5e-9452-0237a0117b40 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e9698a9c-ce9d-42e8-a14e-8a05fcdfd6e8 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0032649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8575f696-8a40-460c-8fbd-d3c2f3a200e5 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9a0cc42e-44a5-40c3-b2f2-1f17ccef5094 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1c6b5707-80e0-43b8-bbb0-a6b42519dece phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0002789 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:82e99b6d-db5a-4551-860b-8950227a4b1a phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5b9871a6-6dd8-4562-8e51-93544e38e392 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d4014883-db54-4fc2-843c-befeba88fa96 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d8048f6f-8e2f-4ea6-884d-9cb65029274f phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4ddab023-21bb-4895-a975-df641db957e0 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0000110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bf46d80b-c035-43ec-993f-e356d67efddf phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:10910a3f-3111-48fa-aeb1-0dc61f79682a phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:acc55846-a655-4a96-9774-c471e6837f88 phenopacket.store:TRAF7.PMID_32376980_31 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:f09077cb-a77d-4cbc-ad14-ddf326cebde0 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4a494b96-62d0-491b-a14c-f27d9e869a1a phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fead9c5d-5744-4438-a0f7-840bcd648878 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d98beac5-eaa7-47c8-9e25-54a8aae67b12 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5c927cc0-14ab-4609-9b56-cb4c3e2cff26 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:749bd1e3-105d-40f4-9ac3-234cd969e1c7 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:29a98ddc-1ddc-461c-b3d6-0f36bfa4987a phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0012741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:872eb849-ffcf-4e1f-893c-0cea4d02cfbb phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:163f0551-3d78-4146-906a-099a61862f1b phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:61cef7ed-4c13-42dd-a3a3-8f20770f611b phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a46f73d3-7b49-413b-b259-e6ff55dc3148 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aaff92f3-e27a-4bcd-9d26-03cd53b752ca phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:625f80ba-aef9-4906-92f4-9ea2787f2b70 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fa94dc5e-6602-4432-879a-48b3efbd6031 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a9ffcf91-c638-494f-9df7-0a5606d457f7 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0007099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7251e26e-7a1f-4eef-aab3-250c1cd77437 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aadde089-df32-42fc-81dd-faf9dc4bc3ca phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fd60d05c-7563-422c-b265-e7082a222b78 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f9726f20-4878-4042-a24c-7070bc080dd7 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f1a84cee-ff50-463f-9c30-40eee97048c1 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0f00bb65-e32b-47ed-9771-35ea09d17e57 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ac692946-38c5-43fe-a75f-5e3a17de9c63 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:365a4d71-1e84-4601-96bd-7067a2e27636 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:87c79462-2f06-48e5-b3b8-932ba4d5b20a phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1fb13136-597b-4a7e-a8f2-cf05af11779a phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:759bfa0f-7cbe-4d6a-a95f-18fc2d4c00f4 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0034391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:96fd2089-3904-4906-997a-6676fcad238e phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e221be97-09b4-40b7-82ad-1d69be9ec542 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f1bff78c-4740-4e18-b921-fbefb6eb42a5 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:f572bcf9-f92f-4cad-8b90-689dba8087a4 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:4df52944-c91b-46bf-b311-d682d5bf45c1 phenopacket.store:TRAF7.PMID_32376980_43 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:c78fe4e8-3d01-4762-8bc9-5d8e4b4c5e23 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0040022 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:59b47646-4eea-4092-9fdd-996d7ea468dd phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0002566 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8c189f37-6a0f-4e1e-b399-601958a4c55a phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:41adbe41-5740-423b-babb-9f7b4509b40c phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:952c359b-e9e8-4c61-8881-32aedc2ad1e3 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0031014 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b5906fcb-01b4-472a-8dfe-acdfe12e9bee phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:36f08c01-faa6-4689-8203-e8e9e8e621ee phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0003031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aec043f0-0270-4579-8653-2d14f762310e phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000885 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ae91f91f-63d7-4f53-b9ad-cdc639c43c51 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0003180 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:df2c75a6-a4c0-4a3c-895d-926f67e95cc1 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5b7135e8-fc0a-4aaf-95e2-151a6529c743 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ff875760-39d3-4413-b03e-d49e3a5b3b0f phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b967cfc2-af0a-4620-a9e7-d3879db82e25 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0012523 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a35c8cb2-d899-4a4e-abdf-df73271651b7 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:57f1ce78-1589-4178-88a5-8b54e6cb7efe phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a3547065-6dab-40da-b954-518238aa9e47 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f3e7ee21-cf1a-43fc-86d1-1a5ef31e90dd phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ab5f98c9-6d48-48e5-8636-e471e88995c6 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:989ae76d-551e-4010-96f6-4877f8e82d21 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:32f4f078-7fd6-43c7-a86e-f0e39cf1c0ad phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0002982 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4f54c35b-deb2-4cbf-98c4-609aa5ae86f0 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e1d33ec6-02e1-4b1f-8625-73e05639c51d phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0010946 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5de835a3-ff66-49f8-b509-296f3c80434f phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5d15f5a6-b243-4a53-bbe4-62d05eccea7d phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:93221573-5d8b-49c0-aeaf-34b312e85f5e phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a40b8343-dd8e-4f18-b6bc-106fd95ff34f phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:29bc152b-f9ed-4123-87d1-987ed16a23b5 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0009088 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ab54738b-cd5e-4170-91f8-be23c1b2e149 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7df8842-b9a1-47ef-8947-ab98f2220318 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f1405c40-0ffc-4e31-bca3-5c1dcbe987b3 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3a9a7451-6aee-4726-8177-fedb266841a5 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8ba73630-7071-4bb8-9871-7a6b8710a304 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c59960d1-8338-4c02-978a-1dfae6f098fd phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0009774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b3432de5-aac1-4162-87b7-129a3c73d011 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:01a633c8-4112-4cc7-9cbd-531e53f74d97 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0001611 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1552a614-5682-4a18-92ba-68bb09ff52e0 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0002779 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:08db0ea7-7716-4f90-b94f-2c32708399fd phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e01bfed6-0bd0-44e8-8b98-7fd85fd192c9 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0000586 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:18b1e9df-b4eb-4bc4-8d98-6391d0685841 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:d8d3c37e-9c99-4997-a3bf-c99d169fc090 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:1ea9d659-c90e-4be4-90ad-f2e2d16a18e1 phenopacket.store:TRAF7.PMID_32376980_19 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:8ca5fadd-c26b-43de-a2f0-97a1e5ec107c phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a63c9c32-76b0-46af-9570-3c041e5bd4ad phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a989b900-d159-4d62-aeca-ba313bf5c0ad phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000465 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:af166e47-016f-40d6-8cbc-b62c4d48ce53 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b6dbe5ff-a4ea-48fb-9a2e-aff94886a8b4 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3e94a770-bd62-4427-9f10-9a1234fddb76 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ced386b2-55b4-4517-98d4-6ffb1321e708 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:49405c20-a075-4a9f-be2c-7c66132b5c2e phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:08f1f46c-ea98-4802-be47-b4e66ba55594 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ffaf56cd-904e-49e7-b08d-c056164aac0a phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f69851cf-e832-4fdd-9bb1-7de977f10fa0 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e59fa0db-2337-4743-99d8-2d6c377dc50b phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:beec9c1a-1579-4037-bc33-0ac15a8d8e7f phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dde62c5a-ea5e-42fd-a302-0708044ea387 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:be2fede9-c017-41e8-8261-0cbea8e8f9d7 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1c698484-d499-42f0-a907-8200bf9f4e55 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d383a522-9c44-421f-bb41-e49af7590c89 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:15ee1176-5ead-457b-98d8-4b8cedce3f25 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:91f8e3c0-8a6b-4028-8edf-a0c1c1ee2887 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0002938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9f0664a4-9b9c-48da-8d89-6d2904e12bba phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0004970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6218337f-4641-423a-a018-a8bc4e7d8c67 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:579f7c48-5f94-466e-bf45-7b86e02be0e0 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:40842b5a-8e65-4150-b21b-a4e821224115 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d81f959a-bff9-470e-a9f7-eb609531a78c phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4a5e604b-e756-4250-9663-00064079c699 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3267f91d-b7ce-44b7-96be-e082177bb599 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0000349 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:33b73ecd-07bd-4b98-99f6-ea85cddb7109 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:9d9eb0ba-729f-4215-961e-963c141584c7 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:91fff408-b261-45f9-93ae-a1275fd7b1d0 phenopacket.store:TRAF7.PMID_32376980_14 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:724fbbc2-7663-4d6d-a446-1ec0519a93b0 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0040288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a4fa7b7b-46fc-4e8e-bca7-9fb4fd05d635 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:acab20d8-78a6-47bc-a6ff-4bdf57982548 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0034980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1b177128-2733-49b3-b15b-e43480bf50c7 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:27749efa-0faf-4f84-a187-c7720f38c440 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:329683b3-5848-4c62-b80e-50c21d586033 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:36c69291-f432-4af1-9f23-19692eda59f6 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dde098d2-b171-4da0-84e9-59919b0d58c0 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:00d1bdcc-2566-4c3f-9c3e-5abf8fba8fc2 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dcbc0b9f-6a7a-424f-b5b5-1d50fa1948c1 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a805ae00-e716-4a8c-8119-266a73ec254c phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:7ef6c58a-9642-4a22-97df-5d391918b211 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:2e3b1aa8-e914-402b-a2d4-92bc1fe571b9 phenopacket.store:TRAF7.PMID_32376980_25 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:f4e0cbe3-1938-40eb-8d4d-d812349698c4 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:13ea5369-2509-4634-802e-92c21080e2e3 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3924fb7b-6dab-4d9a-b045-0caf8a8cff78 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7afdc3c5-3ff1-405f-b47a-62b7973eb735 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:75dc3ae6-c045-4fb5-9186-d159f4653505 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4a77c27e-8037-4658-92f8-57c66573c4a8 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:967a49df-5fc2-45ad-b1ed-1b7b80dcd281 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8aa609b9-4731-4675-ad55-f6a5f22c7950 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6c693430-bc04-4ef8-8b4b-8ef5eec0dac1 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0002816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5e21fe25-ed8b-44c9-b6e6-e71cfb16074b phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3f947b2b-4d48-47a6-8156-2dd2a89e9b14 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0a0708b0-74fa-4580-b866-00f1673b45e6 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f1e00286-f611-4f5a-b240-6da2467379c6 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d5631ef1-2963-426f-8698-f26daaecab82 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2650da01-19b5-4795-a1a6-8fd6b4c74fd3 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5243344b-bcf5-4685-a3ab-d620e1ef7968 phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fce6acc9-dc11-4ab5-b220-16e63549db6e phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:ab08921c-3a49-4576-b8b4-86a96a176b6e phenopacket.store:TRAF7.PMID_32376980_12 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:1cc94ded-ffae-4bad-9ba1-e17d41578b22 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f48adc7a-c057-484b-a144-e9b69702317a phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0034980 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f2f3afc8-8722-49da-9318-a58cd7335ef4 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2053bdfa-1578-4eaf-8074-6d64ca3cd00b phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a723b709-8de4-42f3-8659-1b6af7b0ae7e phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7abafa57-b771-4507-94b0-494772adaca9 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:52c21cdc-21db-4c7e-bd25-c783323911d0 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7d170297-7bc0-450a-a1ad-1a70c216d5ad phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0000220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:568b1098-d840-4c22-9e7c-fa7112bbb09d phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:deabdf03-5f9d-4116-9d33-49d0a13efe75 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:ad48f3cd-fad6-4d6c-b531-e0a53364c6fc phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:e7b2e8ac-1f6e-4958-8c9b-4bbc8cecaf26 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:7104d976-956b-4645-82a7-773265d7ebf3 phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:7e0739d4-d5ce-4a19-8d8c-ce9f14c27be6 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e59d82ee-5cbe-4006-a510-004b80342cd9 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0001791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:90be94be-9cd9-4ab9-8f79-e440d0f80c2d phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:24ca4fb6-c652-4ff1-86d3-12613a9623a0 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ca24c7db-0970-4532-9662-9c72b6cea3aa phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1b608d64-da91-47c7-9a8e-37e140b54ae8 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0002643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8173c083-813a-4ab7-8db2-afd8f899439a phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0002141 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1926e9b0-8b33-4248-bdeb-a2aa83fe6ec2 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a7d693b4-a3c1-44fe-9651-b612f2795113 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:28fb016e-c635-4472-ba4b-adac15211b7c phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:539b2603-8631-4306-b8ce-d5637d290854 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7e5a952-3187-433a-87d0-b31be8405b9f phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0009046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ad6e4896-f300-4254-9e6b-e8f8a84eede1 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e23d2bce-1903-4068-a06d-d12b7bc74824 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3879a2fa-895a-4781-ab86-f58060499545 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7d5bc30a-c0a7-41cc-bc00-e5f570ff2138 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:47d14c4b-ee4a-49e6-86b4-29dab5909690 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a525bae2-89ef-437a-bc34-6b3bab639729 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0002091 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5f0bb17a-f642-4f00-b492-400fde84cb54 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_phenotype HP:0000003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:17d1f5c0-d230-4943-b1f0-143418b225ac phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a09062a5-0412-4e72-bdf8-a721b30728e7 phenopacket.store:TRAF7.PMID_32376980_30 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a8605cd6-2db0-4831-9550-a9927859af99 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3b6513f7-b31f-4797-bea8-a6a4a70f1a86 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ee7cef64-ca78-4762-a375-307595767de9 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:359dbb3f-216e-4878-af23-baabd4c209d8 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4c5b62d9-fcf0-43b0-a476-40f2f1ea208d phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3d884740-f244-4c15-97ea-34c1ad26f1ef phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1c94365e-f1d6-4ae4-b4c5-172376ce0c65 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:de7ba7a7-7cbc-452d-a528-3fe813a6411c phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eb7dcb4a-2016-4c27-a0fc-a007f222093e phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7cf996c-ffa9-438a-9ddb-4bcda8c2be2e phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c7b3bce7-2cc5-410a-a4ff-a3163f9336be phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:32eb6ad4-2089-4ac3-8c3f-c0b0809c68c2 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8fc2c046-3bdc-4514-a097-0948042f5eba phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0a05bb16-74de-41e1-a68d-f742b1f6294a phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4f4e1184-e029-41e2-b5b7-d9475d246859 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bac24a14-8182-47ef-9f93-3441321a2dc5 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:021a1833-9e84-450a-b509-fbbe3c26989c phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:da960882-af5f-421d-9d87-64f55b4c1a3c phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:5eaa0329-ab84-4e0e-8668-9f4d7846f592 phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:7d3bfa7a-943a-46fa-a651-741f5c18da89 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:28f0e4e2-c1e5-44a2-b1c4-d97a2ec6b1ed phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6c30b925-83c0-4456-871b-f0d2b2398d37 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e697d0a0-19a4-4e5c-bf20-75211f726f27 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0bef66fb-8730-4673-a833-79b396ba5922 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c143ff60-8a53-4a66-8a35-552d6ad14853 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:89e3d1c0-2216-4992-8718-718ae81d883b phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:08f29f05-e905-414c-bc74-4aa86831bb39 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0011623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c6178d6b-308b-48aa-9bb8-d834562bf3a4 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0000389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:50771890-12ca-4ffc-8658-0b84a1a8c390 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0001903 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:72e207fa-a5c7-49b4-a01e-299a116862ac phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:71002108-1033-452b-b3e2-67bd2adb128a phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:42961d85-6e6e-4a5d-9afd-67795b9fd40b phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:eb5b5198-3869-4358-b35b-5f0da08ec1c0 phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:4e549981-3ea0-42c3-901e-bc87da0330fd phenopacket.store:TRAF7.PMID_32376980_10 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:c32c131b-b03c-43df-b3d9-dffcf0450702 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0009791 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7f622c5c-8043-4863-951e-e111935a4863 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:787ea62b-6869-4f98-b163-ed142f07daf6 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b2c93b3f-0a1a-49ff-92ff-a20fdb10ef6c phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:be2cbebb-b062-417d-ba5e-ef078abf08e0 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7ab8a522-ad09-4159-af50-9c1148b4f8d7 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f2fdffbb-40a2-4b87-bc64-ad722c0da5a1 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6f2747d9-94e8-4706-8592-96edc924e2a6 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bc2c015a-7884-4ce4-b2cb-dd51950ff3a3 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3342062a-fdc0-4734-ba2f-f54c413fe911 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f22e7152-63db-4f71-862e-b4cb0acfd164 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:662223ae-0b93-4183-8c0c-b760460b18f9 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:171f03e3-7f93-4f36-99ce-c7455148854b phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:89f420a5-3a3f-4d67-9b4c-c2d0e94cb5ef phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1d0dc1bf-cf3b-4454-99d1-fdc44f7cfb8b phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:17e78bac-7731-4e97-991d-33a77974dfd7 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ae6b49bf-9b4b-435b-9201-cef2e410e032 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9933bf6c-e9ab-460f-88de-9c55897223ba phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0003186 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:11d790bf-14da-47f8-886b-547a79db6816 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:740a362a-fa00-4e4a-849b-782c138660a1 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:7ac06176-c4ba-4d09-889f-ea9ab5c64580 phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:04d1a3da-b44e-44ae-a54b-385d9c38179c phenopacket.store:TRAF7.PMID_32376980_35 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:8ba0399a-4d63-451b-92ae-50686f7e0246 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:62790ed1-c181-4c34-939a-6465672c4407 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:af736ec1-08b3-452d-8c33-fb49e639ac95 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:44f8a04c-f0f9-410f-b49b-9236874689cf phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6c31e214-e74c-46eb-a64e-d5e9c0322ce0 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:977e030f-cc7b-4020-ae81-a5f1feb3a060 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:909f3e9d-0ebe-4ca2-a46a-9839d1a523cc phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000324 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:96986ae6-1d14-4cc9-8ab7-ee2865751ef3 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:acd8b25a-cb2d-4f3d-b799-1c1c9a825b07 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:baed2237-9e0d-44b1-87ab-598a80b10c49 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7598652-5afd-4bcc-ac97-36b6186595db phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e602dc9f-5e69-47e3-a35b-5019c2c94530 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c65c9b66-810b-4e2f-a14b-bada9da51f51 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:69191336-60ca-4803-a87f-38fc82c501ba phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000452 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3340af4e-0821-4db6-9bf4-ba4413180bf5 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a84f4b13-e4f0-4cf2-8e6d-ea64da5e3ea6 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a1dbefb2-421c-49f8-8e5e-08145939a5c3 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7b33f921-99fd-476c-b990-b4e0d99258ce phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5da3fdab-42da-4428-a961-1c75677daef3 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3272d99e-2186-40f6-a4a2-f37d9df7d22e phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:08d2541f-b109-4d6d-ae4c-fb305d763e77 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4591806f-2b9a-47ef-bc3c-23c13acfb228 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0008445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4deded19-b15d-4638-a14b-0b0c0e826a37 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:316a9e1a-c9a0-4be4-9081-a07fa2c891ed phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0002196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3af7d32f-c881-4480-a550-4dcaff1cdd62 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:770e7d58-ab8e-4930-a5c4-8392032574ba phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:688cb043-3d79-4eef-9ab0-3b61e0b079d8 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:942463ca-bb9c-43a4-a2c2-d688be13e9a5 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:15b0e8d9-f967-4fdb-bef9-bbb8cfb6ace3 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9dfc2393-8586-4019-ac3a-9307ffec3b7e phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7ba90257-2566-4418-a5bd-182af4e84c0d phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:71d17afe-2e3d-4d7a-8973-ae514cb0b2a1 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:82276c69-e1dd-4674-b09c-4484325d0351 phenopacket.store:TRAF7.PMID_32376980_42 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:9c4dc2c9-936f-41c3-ad86-df1887bbde45 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f4f033f4-f203-4a40-84f9-f2f3209d3f3c phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0100327 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b626f91e-0006-488a-9626-5a04a7042e1d phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c0ecb6c4-5a21-4ade-9cde-8a9f6f4b12f9 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:05ee32cb-62a9-4f2c-ae25-b3783b2f1640 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1052caff-cb2d-4dfb-85b8-fdf2fe4c67af phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dd29c1fb-7a4d-44b0-9c76-001fd767e1f5 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:081027a2-6f62-4397-85f9-1be14b0b2ef9 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9cc63d57-b5d9-4376-bffc-9158aa721622 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:915d4e49-ca1c-4f6d-bc19-4bbf70612e19 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ceae5216-6f09-4a6f-8049-732f99984d88 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5c50e18d-7bdb-438a-8d10-e6261f6feaf5 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:95fb8a71-99ab-4b3a-af6d-7336765b09fa phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1ebace1e-282c-4ef5-823d-46abc715e397 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:39b6ed7d-cbab-41af-bb5d-8c5e55923cb5 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6bbbcc42-7283-423a-bb1d-dcc61c67ca9e phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:62220ef1-0ac4-4c82-b8b3-6cb356269944 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b216044f-7b54-4e66-851d-e9c955f2693d phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:66317aee-cbfa-40d3-9491-c496f09dd037 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0001212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eebd7300-e3f3-42b9-8a2e-0aebe7922736 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9ee90b1d-b3a8-4dd7-80be-f6e86af3c798 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:239f43ed-d6b7-4865-9d13-b02168b94f5b phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:965b92e2-32d9-4ee2-80b5-3e19a5f1b8b5 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:05b3ae92-9b3d-40ba-a538-1294108a911b phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:63b91293-ca7a-450a-814c-71599946c8b8 phenopacket.store:TRAF7.PMID_32376980_22 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:270a995c-8b25-4db9-9f2c-a960eab3807d phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ccc59e32-f370-495d-866d-7dec6466418d phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:febb04cf-4383-47d0-81a0-f461ea3a104b phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9d72baca-7353-4a1e-b131-552045476a39 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0100704 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b9b20835-f119-4be3-b065-dacc9332b2d4 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:36e5f2fa-0b07-4a88-862b-4d467ce4579f phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:30dbef8a-0647-4580-85fd-a1c3c3db3f45 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4666419e-6731-4cd3-8629-1790d7767ec6 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f139f170-8f52-43cd-9c01-defb3cba4095 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0020045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c9c22128-3a71-4e8a-9bd3-db2340b5dc32 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2c5e05f8-7d6e-47da-8664-7175baefca18 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d75d708d-d33a-4b2b-bcab-4ff5a2d8c601 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:311b0ed2-c52b-4165-a86b-cb3b5451f1ce phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c03ceee4-0b70-4ffe-bafe-869f92479008 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0bdea3bf-8a5e-4136-8cf0-debf8113a1cc phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e2ca0676-457a-4687-add6-88e11fca03b1 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d74b6985-1b9b-480c-a7f7-d130d6d26624 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d9782326-dd85-4af7-b4f1-71648b45ec67 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7c508bde-0c99-4c00-ade5-e56d3c73d1e4 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:44c6ffe1-ace1-4e0f-aa49-6d8da8ecfd2a phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:39bef9d8-3da0-426a-b192-c1e11772eef3 phenopacket.store:TRAF7.PMID_32376980_9 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a3790947-ffd4-4e22-b9b0-c576e550c6ae phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:22f25a0a-abe8-43a9-8fa0-88f10796081e phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:18e7e8fc-b869-47bc-8da4-86b79aac4afd phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f906aba6-7a69-4b6c-b888-b77336af8941 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4d2b0db3-1e8c-4d95-8784-153460d91812 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0034295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:674c5e4a-34de-4ad3-8bef-1ff62163e5f5 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:94c6c52e-7873-4b96-9aa5-3d8605a18569 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1db2f8ff-90bc-4526-b7e4-a75a61452562 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:df7f216a-be05-4857-9639-62da13d604b7 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c4a59d46-a381-4393-a28c-69498aa31aa9 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a3c27209-77ac-4b7d-b205-873ce13f8778 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0005301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6a6ba615-fe91-4588-a8f9-0d3238ea1378 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b1fcb93a-1ec9-4aeb-aa6b-63f19eda3779 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3a189331-2b1a-4596-8a15-fffd1fbfd150 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0001612 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4d162cf0-f707-4f28-9223-46c0c9a2c489 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:f37f9249-6695-4085-ba68-0d3bc76a87e7 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:3e8073e3-80aa-4962-907f-ef03f369c814 phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:b9ed58b1-fbbd-4495-8cc5-1bb1b93743fd phenopacket.store:TRAF7.PMID_32376980_39 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:f44d855e-9bf7-4e46-b86c-11a9cc2f6745 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:192a2cae-85db-4417-b200-b6774fee3406 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f8a10979-3680-407c-8d94-8d1df7c13231 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:168f1c2d-6fe4-44ae-9ad9-acf366bf2054 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d28bf4d5-bcc3-435c-a2db-ddfdb5e5fd0e phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9f588190-a5fb-40a8-8001-caf25d823bd6 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:11dc5840-3715-4fa5-bd79-a5430540e8b7 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c6e59e4a-f20d-4024-a42f-5d8deee9c9d9 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0100559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c704c475-c745-4211-ba08-0fe56eb100aa phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d0f452be-db24-48e9-b2e3-694abef44f36 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d8586e4e-3aa0-496e-8f52-1f9c14b63bc1 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4065dc70-df9c-4f83-95f6-227f6662ba1b phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2e7ae44f-6c10-4f9c-bf97-565e2a76a74f phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e7b03f1f-2697-4b96-967a-12086a2411fc phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:660dc78a-2b1e-4d73-8e1e-9f4dd8f9b817 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0004383 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f80a6cdd-e86e-4e6d-aeb6-6c116632b5bb phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0012304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:62d6a805-24e7-41cd-9498-5caa8e0e84d4 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7e094332-2c35-4b51-8058-5dc7c462be5b phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:de403ddd-2d6c-412a-96d3-6ded318d5421 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a4bfebbc-d7b9-46fa-969c-71ec32c221c6 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ea6373f3-a423-46a6-ada3-c98597c0745c phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4f413449-9a8a-4b25-ac3a-c92f8fdc4732 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0032988 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:44be8d36-832e-4609-8334-de0a1b70fcb1 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d2c811d8-5185-4034-8f78-f829e44d49d2 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:29eba203-bc0b-4ae3-bfaf-0c5c4464daf4 phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5fbb1905-a589-435e-bbc1-5b345cfbb61f phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:391822f9-fb3e-4c27-9402-7570381a496f phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b1847184-ee3a-4ce4-bcf4-ccbb6b510f2f phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:1541e54e-86e8-4d7f-a038-fac84b339adc phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:ac0e0cc8-19dc-4613-b79d-3893fb3fc72c phenopacket.store:TRAF7.PMID_32376980_18 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:0dff3612-e737-46ec-a50b-8dfba224356d phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b964523d-f98f-4359-b026-50a2bc5517c2 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a5f26cfc-ad92-43c3-88a9-2af6cbf571a6 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1dda3f58-bb16-470e-a890-02c47b90ae0a phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0002937 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:82a8edfe-34ae-4709-9c7a-97d61599308b phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:08a08c72-85e5-431a-b604-46f333b626ac phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0002308 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a666badf-4b33-442a-bbe6-d21bbcee4eec phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3a1f7ca2-69dd-4773-8db8-66107c723de0 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7e9e8289-03c7-4c7b-ac57-6af7afc34658 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d0682e0e-25fb-44fd-a7cd-0bb3e8b5074e phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:619d0d39-e6dc-485f-8ed7-0459becc7cc1 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d73d0e5e-b2bd-416f-8176-f2e50ffb7b77 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a03df581-e518-460d-924a-2efb943d1d37 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2e0ded48-ceb6-4fe3-b6fd-626d369e1cec phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001181 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:49c85f9e-337f-41aa-af03-a2452b285afb phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f9fd4f63-6fc2-487a-b8d8-d0a2c553a3d6 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:27e15f4f-a234-4c6d-af37-44aa233db52d phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b7c40901-e64c-440b-9b1c-f1f3d2bc3ee0 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:026f1944-9be8-4f51-b71c-6637bc70c50b phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0002474 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d52f535f-85a2-4849-936c-4b2fe70dca30 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001195 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:29aed74c-5d1b-4e21-a671-0538f124f9b4 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a714db47-ab16-4b0d-bf31-221c76b86755 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:42c0922d-b644-477d-9ae9-b9d03e0d9397 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:87f7d904-0975-4a84-833e-bffe88b49ef8 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a663bd7c-ce26-467c-8b73-6d93195c8dd8 phenopacket.store:TRAF7.PMID_32376980_17 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:4a76d925-4f6b-454f-be33-b712ee9c9859 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4bdd8ac4-b661-4ac6-b197-d82ae894b3c8 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0003089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b0232694-2b39-47e5-9aad-6745f603151a phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f53b0f73-d9d9-49c7-84ea-3a48a05f5a09 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000649 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:04ffe3fa-cb9f-4d33-982c-5df16b7ae136 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a1c8633a-e6fa-4aa7-aae0-6c82adaa0c9c phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7c05bf82-5ff3-42df-817a-6152ee5f5970 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5d111a09-45c9-4b49-87c2-273676f51c74 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:003010e8-682d-44c1-a6a7-a6c4d1e99ef5 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d317598a-dc91-4454-901b-9b4a92da0621 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f5829ae7-fa7f-43e6-9eb1-b789f6a57cfc phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:331fb390-f4da-408b-9c14-131ce51f2c67 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3e50ae53-5c14-48b1-bc9d-3875c4fb2ee7 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7be196ff-f67b-407a-9259-d81917713608 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0002094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a4e218a0-3371-47af-8762-0ca92c017003 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3540c42b-dc88-4322-8822-9d1b3c6817ef phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:80e314b0-095f-434d-a050-de14cffc74c4 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b5fb8958-a8cb-46a7-ad37-ca9c634d94f3 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ce75d5fe-4e51-4443-8fcc-afb8aac34347 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a3e15d67-145a-4220-acb5-927a7a30c980 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0002036 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a732d0c0-596e-40eb-b703-be56d8e6d314 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f69cd327-40d4-438a-9e1b-cfb125fd6439 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:df2c5a54-f81e-4b39-8ba3-84fc7335d552 phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:a1b6afdb-19e0-498c-abd4-d2cbaf31b18c phenopacket.store:TRAF7.PMID_32376980_23 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:d3f3ea51-a3f7-4abc-9e5e-ea9ac6d14080 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a08eb792-77eb-4420-9b61-bd828d411231 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f9ce3e78-7f97-48dc-9a1b-c1784ef35f19 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0007302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ea672a6b-559a-4e53-9cef-5ba89a81a52f phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b114998b-afdc-4bbf-8cdf-7200d427390c phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9c27464c-838d-468f-a3fe-7f61e622befd phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9a8662ff-bdc2-4ac7-8488-14d692a14d92 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ca647d7c-0167-4bbc-94ed-27f7eabc32c6 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4288753c-16ca-4785-adf4-e2385d1922eb phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0cecce3c-37bd-4d8f-9095-1f603efca501 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:4bfa9017-7b16-476f-9e35-4ea67710dd8b phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ae1c6a31-f762-4a45-b8d5-c660bdf83bc2 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0011094 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e35c17b3-f9aa-4451-8073-8450424c7b1b phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:e81a6ddb-0602-4fe7-a422-0c87699b57cc phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8fd10f2d-7509-40ba-9285-cbbe512f60ac phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6b93e686-04d8-445d-9dec-2cc7ee394308 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:033faee5-b58a-4fef-977e-14d47a088f2b phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0001513 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:08a58acf-c7d7-400e-bade-0194d6c17a5d phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:33600043-43f6-48fa-8883-b4276ee09c0f phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0012185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0e4d0ec5-c4d2-43bb-abf4-da96028bfc14 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:64fa6f6d-8120-4c6c-9325-c73a5803f3e7 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:080e315e-b1b1-4f6d-9ebb-ca651dde0ac1 phenopacket.store:TRAF7.PMID_32376980_4 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:e5c43316-b77c-489b-8197-7be5c2379bf8 phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:045e1c65-d014-4018-b291-6467a1e7e006 phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ce1bad58-fb30-437d-9c12-82ea38140908 phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0001328 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b4d02162-6a82-4ecb-9518-5938081e2d95 phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b4a6fa99-ae35-48e9-aa23-9823b91929ad phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c476a49e-d3ec-4db4-b52b-45599c3e505e phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:4406b547-d8c9-474e-b740-3aa0a33ccb9f phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:41903fb0-0e10-4796-b5b9-f307e885e881 phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:6377f784-e109-4b5f-9e34-1cfc80f2e8c2 phenopacket.store:TRAF7.PMID_32376980_1 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:d6c54548-249f-4c88-b53b-f518c1d8c5c1 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6b055403-b805-4166-ab80-113ad6243d91 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001320 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:18b13fc1-e6f6-49ce-82c6-1714204a67da phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000298 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:799a6ce0-bfa1-47b0-a6ca-a61fe7860340 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b9b6eb79-3112-46a0-8da5-023fcf211c84 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:980d6139-1962-430f-a219-84d724ef60bf phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d6dcc688-8f91-4043-83d3-9089a6acbcc1 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eb8dc87e-fda7-4648-8e50-9f8d5cece762 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b3db94e2-0c63-4840-b8c8-f0f96e508bb4 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:dd14e1dd-43fc-4a9b-84dd-95cd399d320b phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:668be9a7-a67b-4e41-8408-65881b541c4a phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9abf60a1-b655-40ea-8cd7-f7d38f24b35e phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b9aaa603-610c-4dda-8632-3f2b91d8181d phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7188a91f-19fb-481c-80b2-73a75755bfaa phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d2418439-a5e1-4964-899c-08a74539a0dd phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cd204034-a426-4f94-bce5-c41b174643b6 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:38e28b35-437a-4992-b740-a34a84ee31a2 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:0f8572eb-e975-4b89-ab69-e6d4a9f8d7b7 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:eec960e7-96a7-4167-a0fd-a0e750a5107f phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:97d98dbf-44c9-476b-a1f9-5ef57e734c97 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000064 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:1181daa8-85cb-4cac-97e1-0ebae9498be6 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5c92ed8a-75e6-41e6-a742-b98395cfe7a2 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:450d75dc-257b-44a5-b99c-1978bb016db6 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:3a0b445c-1e29-4c3d-b02e-1eba4d0f8962 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f6620f1a-cbc1-46a6-a213-8bbd4d62e6d1 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a1494015-6457-42bf-9ca0-60ffc9d2c62c phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:328f5a01-fc58-41ff-b43f-b6a5cea00ab7 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:bb37f660-4829-49ee-abbf-1fd5af4726fe phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:f143670d-3d18-4b3e-a941-ace9e564ad22 phenopacket.store:TRAF7.PMID_32376980_11 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:6ae3cd04-f99d-4abb-8fdb-9d53252c9e6b phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0033454 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a1d2c66b-bab0-4051-aed3-df9da21b5df9 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2afe87c2-8ca8-4939-b519-a17eb10f6304 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:af2911ec-21d0-4e2f-90e1-57af7e583646 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:446dde91-ed04-4136-9e6b-89b66d5062c2 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:573b716f-ce0f-4296-9b50-f24fc4503855 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a5bed0ec-e183-4ece-8057-6ac8d187ec0c phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f5f5d40b-45d2-4d51-841a-e8697d1bb0ac phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:28b6820d-227d-4f69-b245-089b744df83b phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0010721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a8cc7b24-a79f-4213-8307-e26f4c58bad0 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5f77b9f7-64e1-49a0-9e8a-f8871efd1928 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:9ebed803-8472-417c-ac07-d9f81a097db1 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:70ba0a57-0ddb-4e3c-b734-e714bf736926 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:d5e91e28-f473-4de4-8ca8-8de923c095fe phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0005274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:839fd3f3-0d87-4108-8839-11bb6e506130 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000692 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2f8da6ff-2111-47b0-a2e9-faad4623235f phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:77d49383-7f79-421e-be2d-d59092c76c46 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0100490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:341f26b2-983d-4aab-bd76-ed34c9598774 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5a27a7e7-2015-482f-8ebf-218ede07b380 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0003042 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5ffaae16-51bb-4c16-bea1-a3862ee1a83d phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a08c39d1-7a36-4fa9-8247-cbf8502f428f phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cac9fbf6-7323-4ad5-a6e6-02b2dffc4b02 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:db1da904-e707-4e92-a260-4c35953d6993 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2e79dab5-4fe0-4397-a35d-f09cf3dadbf8 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0009797 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:abe7ce49-dc80-4343-ae34-65546ef9f83e phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:6144b496-6e8d-4632-a9d5-f9cd8a513234 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0002719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:8c6e2040-62a8-4a9d-ba12-6c0a24d02759 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:94c783db-ca70-4e36-b79c-2237dd328bb5 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:f86f202a-c736-46c6-bd46-2ead8ecb20e0 phenopacket.store:TRAF7.PMID_32376980_36 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:8a7ff922-702f-4748-a3fd-db8e39bdefe6 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:864c5f3f-6ab7-49d7-861f-e9eaaa179c12 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:139772a5-17c4-4bd4-b59a-7ebf4d8df263 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ef0bed7c-89f3-4972-be31-ff198df96e43 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a9a58051-9e7c-4015-9d96-ed37ad3ce4d3 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:af9b72a0-6358-4859-af6e-1fa3f5715a3d phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000243 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:ff33c13d-06b8-4800-a101-f9359d490546 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b489814d-ab5a-406d-8d85-87ec264901e5 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0002680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cdb5c29c-bcf4-41d7-9000-a9029cde8274 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0008430 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b0e939ac-b3f5-4043-946f-5adb36192216 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b46edf93-b7fd-4ac1-ab80-93e5afa5e7d3 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f384db41-62d7-4134-98ca-2acd43bc1929 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:aaf16398-77f1-4910-8d75-7bf826dd4dec phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000589 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:cdd27234-ecc7-4316-89b0-6f9cbe39d8e6 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:5b690010-8a07-4132-a1c6-efd67e7bd233 phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0001004 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:b1a03796-8128-485c-8655-bbaa1089280f phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:6078acf1-f0ad-4b82-8c0b-55f7474eac3b phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:bb79e383-bd30-4ed2-b909-3fd8d4ac6c0a phenopacket.store:TRAF7.PMID_32376980_32 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:74ee11f4-d8b5-439e-9277-a9f2e71af7b6 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:2999d9d6-e984-40c4-9ab2-0b75bd9f5b07 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:a22f463b-077d-4b1f-88e7-33829e4ab4a5 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7c81a364-f039-4117-b127-a5429c25b5de phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:7c751410-d800-42db-a3ff-49557215c59d phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:f8710ab2-8a5f-4cbc-9c4b-27a93f6df987 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:48273e8a-ea79-4588-8476-4b407b65950f phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0001621 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:45d30ec3-35d7-40d4-ad77-c99d9e8f3afa phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:fbd0a5a3-1699-4b2e-a584-1a6cf76ae4f9 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0009125 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:56df9b57-4d84-4e78-970f-4f54516a9342 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:bc8c368f-937f-40c5-842e-3efb67ec4968 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0001043 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:35de79cb-680e-4b75-be7e-f6530489ab6b phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:c3ca0520-45f5-4ed1-8c7c-7578080d628c phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:30c6c5e9-434b-43ce-91ee-9ac570c7ef0f phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32376980 uuid:27a84955-fd29-4fa9-a0a5-8d3ec2577878 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32376980 uuid:297d2870-f900-48f7-99b0-4d0cb29c9aa1 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_disease OMIM:618164 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:b5dc986d-2757-490c-842b-c52846be8e38 phenopacket.store:TRAF7.PMID_32376980_13 biolink:has_gene HGNC:20456 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32376980 uuid:6b28c29a-f684-45aa-9ac3-b6baf4cb95f3 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:c9bf969d-87c7-4081-92b8-8ecd90d84b88 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:a6a466f3-2e1b-4387-bb55-5414d04e5126 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:6df03b71-6db8-435b-a6be-6f9ba34f6a2a phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:23b399c7-716e-4002-912e-1d27011d8f85 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:c296295d-32a4-4526-bdaf-db310ba81f75 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:4d818b1e-931f-44da-a253-c4f919294859 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:47cd66a8-05af-4b0a-bdd3-d7de01ba4d27 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:33cde427-9bc3-44ea-ab4a-c236eaaecc33 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:7bb4e3a8-9e20-4d99-8ed4-f4e84d76fb1b phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M14D infores:phenopacket-store PMID:27132592 uuid:7b3d37ff-0100-4df0-bf56-01bc13fc0780 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:76c640b5-2df4-497e-810e-3eabbd9e7602 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:5db8a5d2-e3c8-4695-999d-4ee47083f42e phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0003200 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:1f62e5dd-ce84-43f1-8877-48f54e728cfa phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0003688 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:10e2dc33-c1bf-4a4b-b74c-efd64eb3f3ab phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:3698ef78-7aa7-4d87-83c7-29e0785245d0 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:e910608a-dfee-401d-8a38-486b651083f1 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:afcaaf48-55c8-432c-9a6b-29bcabfe62be phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:75e06dd7-538e-423d-956d-182127ad190e phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0006821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:6cde5108-9944-4149-8eb4-19ab5116a3af phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:3367f74a-84a5-4c4f-b5a3-98fc83f85dc5 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:de6758ca-3fa6-4c5b-b8e6-2de326b44063 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_disease OMIM:616974 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27132592 uuid:4dcb2503-235e-4024-a3f3-d1e2f8556591 phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:has_gene HGNC:26022 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27132592 uuid:7dee0a03-18fa-446f-bdcd-72814ce6a2a6 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:c0bb439e-6d1a-4b69-9b15-551175df213c phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:185a76b1-8308-4364-99a6-1522002df621 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0031964 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:27132592 uuid:53bf7e7a-b65d-43e6-99e6-55b3fd7c9856 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0031956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:27132592 uuid:2c15588b-4062-4f3b-bd56-108cced542fa phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0030948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:27132592 uuid:db295943-7984-4f28-bce1-50b91985a0dd phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0006821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:27132592 uuid:bc6a4f8f-fc74-4be8-af1a-852d8a0f5873 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0001712 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:27132592 uuid:2031a930-7bfc-453c-976b-6ff4b62009a7 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0002490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M14D infores:phenopacket-store PMID:27132592 uuid:eed9328b-9652-4679-92a0-b39fb116f7d6 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0002878 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5M infores:phenopacket-store PMID:27132592 uuid:6d04e3a5-7519-4e24-8138-d4581b2e87b5 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0002151 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27132592 uuid:e6bf537a-961f-451d-a45c-0cb50b05a0cd phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0032653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27132592 uuid:06a50c34-8406-4fad-90f5-c09fc41cf506 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:27132592 uuid:4ce0a740-1b86-4861-86b5-44946d9bc722 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:6000182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:cb35fa0b-233a-4c20-af13-38411293138f phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0011923 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:0b2fec9b-1d93-44c0-a8a1-c5dac054ff4f phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0011924 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:d19e0d58-0929-4839-ab17-196f489c8ec8 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0008347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27132592 uuid:a71b0002-2d7e-464f-a347-e5d1afe62b74 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0003348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:bc0492b5-c87f-4808-990a-679914a89e09 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:064384b2-87ca-4a1c-8ca2-a9661dddeec8 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_phenotype HP:0008314 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27132592 uuid:1fce4689-6167-4002-9b79-feb4164cf31d phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_disease OMIM:616974 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27132592 uuid:d97e7653-78ce-4d8e-9284-44ddc9106814 phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:has_gene HGNC:26022 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27132592 uuid:500a5443-3c60-4136-9309-569ad50b0c19 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:3eb517bd-9730-44da-b15e-51c67fa25b2d phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:4d217521-47a3-4bdc-bc7e-e60d5d917224 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:2aadb7bb-5bab-4038-be14-75ce07d27ece phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0010049 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:55401ffe-9ecc-4597-a82d-0cce35c5570b phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:fc4bfeb2-a21c-4edc-8054-baba734efe05 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:bab38648-bc36-40f6-90f6-a71dad8a9d05 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:a687bcc1-c3e7-4f87-b95a-fe33e01b1df6 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23691375 uuid:683b8abf-a3d0-4df9-a1c9-6930f7f43a72 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23691375 uuid:d58757df-fae9-41ec-8964-303a5cc6fde3 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23691375 uuid:8399da34-a583-4d9c-80d7-aa1af386a0ed phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_disease OMIM:190350 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23691375 uuid:3d21c873-febf-4e63-b056-03020bcb3973 phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:has_gene HGNC:12340 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23691375 uuid:d8ffe02d-9d06-49e2-96e3-9b4d2174efa6 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:b04eed5f-2ca4-490d-a20f-372184fb0435 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:a0c7d77f-6dee-41d8-8057-3dbf1ba5aae4 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:af34ede2-2dbd-402e-9b0c-bc42ba85a5f7 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:521737c5-8c6a-4234-bfaf-1e3e5743715c phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:af42f932-ff74-49d2-b7ff-f00c564b6e24 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:f97884ad-8754-47e3-9cf2-5fedf0d7c2b2 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:87bb4eb5-3198-4978-a5ee-5b302ebfc4cf phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:ee175720-be26-4ae0-bdc3-d2679381a0db phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:2eeef054-a361-4018-bfac-eead6f40ac2d phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:fdab32a0-1236-4901-8377-637d201144e8 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:9734dad1-0776-48ea-946a-246f5fd28740 phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_disease OMIM:191100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:e627f28b-36ee-4456-8aa7-263de66d7faa phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:has_gene HGNC:12362 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:d309a852-a9d2-46c1-a435-aed61e1dc634 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:6cecedf1-502d-47f7-afd4-6b7215602fb2 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:f20bec26-f3a5-4868-ab05-f6a791ae3fb5 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:f461fa32-4218-4a03-a544-f17c8e6f8fa3 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:ffa47f9c-85e1-45fb-927f-82258549450a phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:abd053ee-28ed-4bbd-ba1b-1cede9ce8bfe phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:cedc0587-c1ce-4c17-b9cf-5fde8b7f2f3e phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:0e513a2e-c276-4683-9efc-bdce7a06a184 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:68520deb-ec9c-4712-a0f1-c6dc4047f21e phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:6393cc95-7c48-4a7b-b56b-b74982b1588c phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:cae27ba4-d8a1-4f60-8d00-572859037770 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:62c1ea37-153d-4cc1-a819-a9ed02f3fd1d phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_disease OMIM:191100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:b6deb855-fc72-4daf-b6fb-61d7fa85bf22 phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:has_gene HGNC:12362 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:f9fb7482-8b18-47eb-baca-8ddafdf8c1d2 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:2cf32597-d011-4cb4-a03a-a14c9382f880 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:58da6979-e21f-48ff-85ee-8ea0c92dc443 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:9fa045e0-aa54-4902-89f8-f3447c13e667 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:f34e1d12-8423-47ad-92d8-ac388fb012c0 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:4e314bea-e138-4214-87c3-eeca71575946 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:25ed6713-8a72-468d-8e43-bfd3aeb35d6c phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:5427374f-6f21-4a5a-8565-12c4ecb20903 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:325596d3-9264-4d04-a08e-e5c39bb85568 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:8219c52c-635c-4952-9162-71428bf8bc82 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:3c36085c-7df3-43b0-8f6f-4f8249ac5e04 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:1b013d28-5c46-4f55-9e04-4ae8715c2f57 phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_disease OMIM:191100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:bd067d5e-bc53-4080-bfbc-8f23880c97bf phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:has_gene HGNC:12362 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:7feffa95-2ca8-4da4-b613-2e8f6c6da43c phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:a34803ec-c928-49a7-884a-fae2dbbae29b phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:f5c0f5cd-2738-4ac1-b660-c3db8797db4a phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:71818e92-d15a-4bfa-8159-7c2cf6caa9ee phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:5e8d2650-9289-412a-b171-f31ea4284116 phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:7e2f61cc-e73c-4956-b2c7-5868291d7741 phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:af366edb-c801-4178-92e2-57a00f5cc51b phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:84a81898-64a8-4a1d-9e06-348ce1b3b74c phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:9f62635c-580d-4ba5-9803-cd76f9a94a47 phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:c44fffae-db3f-4370-a20b-12707e68f451 phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:a8ed0138-f135-49a1-bd4a-99e77eb78ef2 phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:3e66adc4-2765-4350-8f45-5087e4dec868 phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_disease OMIM:191100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:69ee6fc5-16c4-4585-9195-4bcfd7a98eee phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:has_gene HGNC:12362 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:87c3c3ef-dd88-4c8a-8e31-f96e3dbaecd6 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:61c4f138-344c-4b23-8323-589c8bc298c2 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:4704ed6d-5389-40a6-ba67-08798a24c9a3 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:954b5145-fd93-4e97-9197-2057bcdb0640 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:9b8e53a9-3c68-4ab1-b22e-810fc3658ae0 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:acf460df-c131-4368-a66a-ba319e1ffa18 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:197e93b1-05ca-4009-b942-6db4c194d493 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:d3b32c1e-1059-43be-af77-241974fe514d phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:2f4f364e-4ae6-4fe5-9501-de11b4922c5c phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:56ac7831-0dcb-465c-bbdd-a9a77441e5f4 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:f39fe3d4-78a8-4899-aa4c-09de4c99fbfd phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:5a543612-243c-4256-8368-8882db5a8d4c phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_disease OMIM:191100 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:e16e2e23-61a2-4c05-991c-b7eb6d6b6217 phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:has_gene HGNC:12362 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:7a05d888-975f-4e0b-bd5d-51b791603ed8 phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:7803e2b2-0a66-41aa-a020-92f4f932c76c phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:5a76ad8a-1cd1-466c-a9d2-0dcea85bde5c phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:d62dad01-77ae-4c80-9770-858a055bed0f phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:b802eb58-fc6b-40b5-a836-c865b56031dc phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:d19964ec-211f-4636-a426-614d5ef89ded phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:a04937c6-3d90-4d8a-8b94-b0c493c193d4 phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:47a585b4-e10a-466a-8106-629f47dc00ee phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:c55bec3a-0b34-41f5-b6a2-aa7c2338ae22 phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:010dbb8e-e589-470a-9d22-77d89de77c66 phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:8c871d2c-f6a6-4310-85f8-8480af8151ea phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:2abff219-8496-4e08-9309-a7d17b6eb58c phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:0e4253e4-01e3-47fe-a2e2-c30830a0632d phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:011ff79f-3b5e-4692-94c9-ef22de9679ba phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:3df2ce20-8597-4769-886d-b8c2b7e23cf4 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:7ab9b189-3b3b-4ed4-9390-e32203d14bdb phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:bb53022f-bdba-4608-b493-8f0190648f0a phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:b0fdfc27-3acb-40e6-a736-d5ab29b21e11 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:fd165af8-f3ad-4142-a14e-91993265d08a phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:0b05db76-99a8-4628-9f9d-2cd54c981b55 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:5690f9d7-4521-4246-9eee-59cb6d2aaa2d phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:fcf33206-a66f-40c1-91cb-7d0730398621 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:7f4a9ed7-71f5-42d0-be9b-4a57abf3d016 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:f0d63a9a-0d9c-4ca8-b59d-2063246f3446 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:ac911756-85b8-4348-9c83-159500c4f966 phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:9f65d265-5853-4737-85eb-7a26b9d9262e phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:af0b6ee7-8b03-4f07-b80c-5b9cf41007e9 phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:604ce01a-0aca-4ba2-b18e-af7ba8a91779 phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:ccee6df8-f447-4764-9214-c40988af78fe phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:aa8bce11-4489-47b7-9ec3-fea56040757d phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:970832c0-4a3d-463c-b835-cd631cb392da phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:61d8e75e-604a-469c-a96c-d1fd03010039 phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:041c119c-2f79-4d04-bbcd-a44d292243fb phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:e6ff5d43-c206-4794-b952-cc8ca1bb5e11 phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:9f23ff7e-51c7-4b98-b1d2-32148afc55bc phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:3881e55d-1227-4177-b856-572bd27d6f8a phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:806d3eac-2436-4073-bc9c-1579cac607b8 phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:8be3dd3a-28ad-47da-a3b0-05b9f929fb65 phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:c23d4c57-c8a2-4f33-bd34-30f072f3e9eb phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:8812a3a6-86f4-4d4b-bfb2-423baaa31dd8 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:e477c92b-e430-42d7-a8b9-67b9406e6741 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:58c4d2c2-4a87-4a16-b7d4-67f9ea71daa4 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:055bdf93-1daf-4e67-8b49-f73ee06b2318 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:2ea99825-9ac6-413f-b005-12bdb3254f19 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:d0b60b0e-9b30-4498-97e6-7b6b88b7881f phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:fe781d0e-7c47-41c3-afb6-15985af647a0 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:9ef0a054-f1d4-4cae-be5e-4b8413889e82 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:a4558c8c-f84e-4914-9a0e-636c4e610e6b phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:6ae801ac-ccff-4477-bbe4-3187fdfadfcf phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:891d0194-924a-4ca0-90d5-6904e922fbc7 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:b8d2eb7f-2724-4fa2-8400-46d303fec237 phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:19fcf613-0f06-40c3-9dcc-cfd9d7ee78cd phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:c38953e0-aba4-4946-bfee-bebbdbca1903 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:02d07a12-9166-4a8e-89f1-50ace3ad1953 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:df60237f-1fdb-42bf-80f2-39098b733695 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:56ed4b53-0ce7-4e61-8a2f-6b6dae237277 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:a378421c-d8eb-4339-97a5-ab6d1d97a836 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:b447eac3-a0e6-4873-9588-e46875bb9da4 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:88123c0e-1e3d-428a-b5d3-43db19c6a3c4 phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:e02c73b3-b5a7-4745-9e74-8a3322c7111c phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:c09210e3-8982-464f-a105-c79d32a4c1de phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:6b1313ac-e6af-4ff6-b1de-fbe7132db39d phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:e933f2a6-a047-4a57-b027-f6704992e96c phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:aabaf741-17ce-44ed-b76a-1bcc1c75956e phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:3ac184d7-50fe-4d4b-b752-4432b21ebba2 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:88402f68-b33e-416e-a49f-2b038ee9a3b5 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:0118e54e-ce95-4d86-b193-7c7f071b132a phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:6090d2f0-6527-4275-a9a0-90442dde433e phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:7e74d553-57a1-4480-81e5-3aa803c1840f phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:3ca87968-d9d5-4dc9-bde8-dc7088a55c3d phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:d9207df3-1f24-4b64-8045-156298c51054 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:c1dd0c4f-1c64-4bdc-8f2f-ce12deb7d911 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:0766a7de-a7bc-44ec-bb7f-d83d37bdef49 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:1b888aba-12c1-438a-b2fa-97019c019bb7 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:ea3f2866-1eb0-4679-9c46-5da49c9af6be phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:14ea6b2e-b774-4178-af3d-2607a313d145 phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:36788a6d-58dc-4e54-a2e2-4f8b07dab04b phenopacket.store:TSC2.PMID_8825048_index_case biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:8825048 uuid:3e2c9db8-47dc-4c1a-a6a7-88e0aed65424 phenopacket.store:TSC2.PMID_8825048_index_case biolink:has_phenotype HP:0009729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8825048 uuid:b844e6f5-3124-4cee-bb53-64c0f4174124 phenopacket.store:TSC2.PMID_8825048_index_case biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:8825048 uuid:62af1698-8ec2-4ef7-9bc3-3f30430e93bc phenopacket.store:TSC2.PMID_8825048_index_case biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8825048 uuid:96c5e34f-031f-445e-a985-3f453ae3a341 phenopacket.store:TSC2.PMID_8825048_index_case biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8825048 uuid:832ebf13-eb88-4dab-a73e-8b865adaeac1 phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0009716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:f8751373-72f6-4091-98c7-7d38243c43b6 phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:320c951a-6364-4372-9d44-6b1fb2d7e7ef phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:16d0b1ca-4878-481a-bcac-12831a66281d phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:e792a2eb-b411-42f8-aaef-108e3e1f82d9 phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0009721 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29196670 uuid:181319d5-a206-43a7-ae63-7a30b9ceade1 phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0012798 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:459f00cb-1584-46fb-b00f-43d157de322d phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0009594 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:16ee2c52-ef4b-4bac-a930-d2eee10dd189 phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0010615 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:e8b73c56-678f-4afe-8a08-f06bbecb31fc phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0009717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:67377b73-63f4-4471-93a3-09d58a96567d phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:46ae0cd6-206f-4c4f-8dac-a7b139c0e32e phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_phenotype HP:0006772 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29196670 uuid:73d0be8d-6ea4-4db1-a144-150aa112006b phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:49365d34-bd4e-4fd1-b23e-e3fb77b9cad5 phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29196670 uuid:b5e4800b-4be0-464f-9a72-44739a84262d phenopacket.store:TSC2.PMID_8825048_father biolink:has_phenotype HP:0009722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:8825048 uuid:7e4566bd-d4bc-4bf6-8915-e229f02a83c1 phenopacket.store:TSC2.PMID_8825048_father biolink:has_phenotype HP:0000169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:8825048 uuid:89cabdef-64e3-4821-a171-3621c436ca14 phenopacket.store:TSC2.PMID_8825048_father biolink:has_phenotype HP:0009719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8825048 uuid:f34ec29e-d5b1-4966-a85a-827e8b66c5b2 phenopacket.store:TSC2.PMID_8825048_father biolink:has_phenotype HP:0009729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8825048 uuid:e1eabf3d-0d71-4a2e-b06b-acdeff187989 phenopacket.store:TSC2.PMID_8825048_father biolink:has_phenotype HP:0001662 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:8825048 uuid:402d81fb-418d-4752-a629-4cfba7664ddf phenopacket.store:TSC2.PMID_8825048_father biolink:has_disease OMIM:613254 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:8825048 uuid:0fea14d8-4066-417c-a03f-25720ed33212 phenopacket.store:TSC2.PMID_8825048_father biolink:has_gene HGNC:12363 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:8825048 uuid:780fe91a-fe3d-467a-b852-cc8c2653d8dd phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:6f27a3b8-4388-4964-a0dc-946dc6f4d718 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0004373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:533373d3-253f-443a-9a00-79d9d7275ad9 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:4a781239-cb3e-4a2e-9040-fc7f66eb6ce8 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0002544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:5e54abb2-176b-4a19-b35d-8dc42d25aad2 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:ab39f482-c5ae-497c-b396-38627f833c22 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:6b727d9d-e51f-4bf6-ad12-86873995b636 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:71a86716-5d1b-4417-a8b4-7f7808b57d50 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_disease OMIM:620456 biolink:CaseToDiseaseAssociation manual_agent observation P60Y infores:phenopacket-store PMID:33539324 uuid:96723826-e328-490a-9697-a70b5ed6f412 phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:has_gene HGNC:16831 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33539324 uuid:9ed35786-253c-4cb6-99db-12023c55f189 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_phenotype HP:0002544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:eac998c8-7a37-49ed-bc46-2bee9f8495f1 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:8e39adce-41a2-4a6e-a61c-088c1d979c00 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:6a9faf2f-1ffd-4fc7-9359-1cd4398b2873 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:c46ab65e-3f64-483a-bc9b-2f7ea0b50b07 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:25e80d20-02c4-412f-b7b0-3ede2756dda6 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:e0225e76-0035-4bf1-8817-c4244c73be91 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_disease OMIM:620456 biolink:CaseToDiseaseAssociation manual_agent observation P58Y infores:phenopacket-store PMID:33539324 uuid:5e7e044e-607b-4b07-b19a-2d749c27b098 phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:has_gene HGNC:16831 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33539324 uuid:d97ea7a6-bf50-4ec4-b757-794a713d64ad phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:6543c708-12f9-4952-96e4-f9eb03594d78 phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0001268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:575caca8-8ac2-448c-b4bd-ff382245d33c phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33539324 uuid:aa5e82db-00ea-4d3a-980b-d40fac687460 phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:65240dbf-2cda-4c03-aa5d-8118463b7b01 phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0002544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:10246f5b-6768-4934-bd9d-944db1be7fc5 phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0001288 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:b3b3037f-00dc-47d8-86f3-fcd21d199a9e phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33539324 uuid:f95caa28-ad45-4d38-a7b7-10b42dfeb0e5 phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_disease OMIM:620456 biolink:CaseToDiseaseAssociation manual_agent observation P67Y infores:phenopacket-store PMID:33539324 uuid:0cd4e349-3e24-433d-ab4e-e535a01dc0bb phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:has_gene HGNC:16831 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33539324 uuid:44badbce-453e-447c-8a9d-6c8c5d34c015 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:28966590 uuid:adffb84b-82e0-4701-9335-df35d2f259f0 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0002857 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:28966590 uuid:be8f9c09-c6d0-466b-87d3-85cf5682a02e phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0007351 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:28966590 uuid:c80235a4-07b5-4d20-b5a0-611f7e6d9747 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0001302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:28966590 uuid:2e14b78f-edd1-496c-a029-afc86aed65df phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0007033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:28966590 uuid:d16d61b5-5acb-46c3-8921-e0c7b6c92400 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0003307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:28966590 uuid:05c0d653-4b2f-4cb2-876e-3ac8b7ff81b0 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0100021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:28966590 uuid:2b95b549-7126-4d76-9006-c6ca01772822 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:28966590 uuid:c21c0a34-4faa-4cfd-9a33-7b8bade48292 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:28966590 uuid:e24ec126-44a2-4acc-b7aa-162e783ab6a7 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:28966590 uuid:d5eb8be0-89d6-4a93-80a1-723a19eb7a55 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966590 uuid:9ab85a0d-d36f-4c44-bde4-c526bbb89930 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966590 uuid:780fa271-3715-4f59-900e-87403406c683 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28966590 uuid:1441c8f5-11c3-4d85-b150-e353e1ab2d95 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28966590 uuid:1257b391-e7c2-40b9-8a9e-733ede55257f phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28966590 uuid:a8af5ccf-2b25-4a96-b993-773a35681b2b phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_phenotype HP:0003808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28966590 uuid:48a0eae9-b395-4d8d-8732-b203a1cfcfa1 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_disease OMIM:610031 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28966590 uuid:16d2e458-2b11-471f-bd95-9f89d3f3b442 phenopacket.store:TUBB2B.PMID_28966590_patient biolink:has_gene HGNC:30829 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28966590 uuid:ef165b9c-b679-4931-a807-882a93a6ed5a phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739261 uuid:da86428f-f5a8-456f-88ca-719b9a0f241a phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_phenotype HP:0002297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739261 uuid:4493e0c3-b684-4843-a232-9901181e942c phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739261 uuid:c2e5f986-7542-4d38-87ed-7873aec97dd5 phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739261 uuid:592759a0-85f3-4bf3-992c-87913fb62d2c phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739261 uuid:cc696a24-a864-4348-8784-61c1e465ea72 phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_disease OMIM:203290 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21739261 uuid:d05cd89d-c5ba-4d58-9d57-b7800f155e69 phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:has_gene HGNC:12450 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21739261 uuid:8d2ec32f-2cdc-4b9f-a71b-2b9d1f746045 phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_phenotype HP:0001010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739261 uuid:e3965a4f-9735-44ca-9af9-f5e04b43007a phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_phenotype HP:0005599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739261 uuid:909ec3ba-8798-4c6c-a7db-aaa87bcb8b21 phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:21739261 uuid:f1c89906-9453-4282-ad3d-4f0d0cf36507 phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739261 uuid:4a0418bf-e065-43b0-9bc3-211b7dd6c063 phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_phenotype HP:0007663 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21739261 uuid:c59bf8e0-b5e0-457b-9925-8baf5c6eee98 phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_disease OMIM:203290 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:21739261 uuid:ba2db391-84be-4572-ac58-54ea8cb5cb42 phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:has_gene HGNC:12450 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21739261 uuid:f8987afc-f1b0-4e06-974c-51011f176021 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e337fc43-ae7b-4f96-86aa-2aebb7d42248 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:37962958 uuid:81711979-b713-41d8-bcca-72d4b0e7fbc9 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:792b4745-0d1d-4c78-a2fe-9e140c84602f phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4b284a81-c4f7-4575-8173-a1805165b817 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b1eefbda-24b9-4eb0-8813-4b145caa5194 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ca807177-bccd-4896-8b96-f818971941b5 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c0b76240-0a40-4cc8-b429-93dd98e254e4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:948efff8-cf7f-4ca2-ac91-b3b53f4ced62 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d30a3e38-e2c0-49b7-92bd-9bc24ff2cca7 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ffafe638-b6af-4a14-9ede-42cc450e64f3 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4b83a3c3-c335-45d7-ad9d-916beb0963ef phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7416c42e-ad3f-4aed-bbd5-62c6e448ec8c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:317971a9-a8db-4c4c-a1d0-e0497e9aabbb phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3b26447-5469-4425-bf99-e23e28fd6097 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2d3928a-93e7-4375-8ff6-806a8309b60c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8daafd97-c07a-45c0-ad43-f263fe45f9b6 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e152db3f-5a76-48b6-843d-b5f10fc58a3e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f8da1b3-dae0-488f-8bc8-cad584007f93 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5514694-214b-4d21-a952-bd63bb819172 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b070852-5637-4879-93bd-d7a0c5c17a0e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec1394ea-303e-479f-9f64-1dbe27c2d792 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15cca5f4-d92c-443e-8e88-0fd2a06fa412 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cec13b00-1ee4-4d3e-9203-1c6285a913d5 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:921ce94f-6fca-454c-a887-80eaf58187b8 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:987e73ac-cd68-4b07-a54e-380dfebef3a6 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6210b4d-1a9c-47cb-877d-8813dbd144de phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2209f4c-c6ca-4a61-b407-55905b9f2605 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2becbb89-4464-4299-aa96-9b0b0ce292f9 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af347609-4f81-4b37-bf11-cc2319f5c7e8 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7773df89-6771-4790-8fc4-7f3b36fbc67a phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5fe2a06-8410-4e09-a0bc-9042f7b3b8d1 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4ccaec0-04d4-4c6c-b176-93397594146f phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b72e08b-7c86-4c92-9e7e-2fa411f9aa48 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c75999ad-eaa3-4048-9b82-e3b96b3b2075 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a11a569a-fd20-4a5c-a73a-679bd89e3928 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78e288d1-2a78-438a-bc54-645d61cab934 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a8047e5-97e7-4ae3-9dde-48c9cb30730d phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa5a4cd9-99ae-4168-aefb-9b982fa7f021 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6419205-3237-4542-9e7b-9bd975c4e27e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bcd5aa1a-1264-4171-bccd-2920d5aefb9e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:767e9930-51da-4a59-9760-3115227c9797 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1c27cee-5397-463c-8f17-25777c213ef9 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5eff50f2-93ad-4161-a3d3-35714c969188 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eee4e21f-0592-464e-b3d5-fad9834d487c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:302eb470-7ec4-4839-b2d0-3cc605681e97 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab4bc541-f9f2-47e5-ad8c-d2ef0e9ca061 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df653905-7f37-43f0-a00e-daeff297a7c4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee5c549a-9535-4385-b349-c290fc104d9d phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:307a8272-c648-4652-a934-c764076ed60b phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3400182-a027-4b1f-8133-00a6a5c4184e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6fb5f41-0227-46b2-ab40-7137464dc990 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3576ff39-f281-4f0c-baff-a11b61a408a4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f5ec1c0-1901-49e0-9b8e-52b9058860c3 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9503028-6f6b-4692-ac8d-13ffe04c9c3c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9af636c-a893-474d-8877-e3f1c68f38e3 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3daa1611-108a-4084-9571-87ffb5180027 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56c73d08-ad0f-426a-b96c-731d47dd9053 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f117b98-9fa3-4a28-b4ce-33cda1272bea phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e13f5f08-c2b0-4b00-a268-3f1da680e367 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf912e3b-ea2f-4dc1-9286-1fe2c2c66cce phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:844afaf3-c4f7-4e66-833b-d072ce387bc1 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6724d6ca-b538-4153-9ec1-0852bb820d65 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0c2d25c-9212-40f6-818f-58b10fbc2f58 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdb3bfa8-ec28-4c8c-892c-61c18279e6a2 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47a52863-6868-4b64-b7e7-6df29e3cb8b7 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:757caee2-9d93-4e41-b126-9a0b65ed45e4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7d254cf-a089-4eb7-a63b-559aa4be44f5 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdf60020-2974-4494-97e0-e77fe5b82c55 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a68c646-6907-413a-82ba-31ff9c1a219c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c9188ee-2029-4403-b491-27b8ad5acfd2 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90ce68a1-5f85-4ff2-b56e-2db7efceb8e7 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7714448-a1c3-4127-8425-c6b7230b3f3c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa08f61d-72bc-4917-9a35-ee880365d4b4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7577ce5-7151-4b82-a5d4-2ecd44fc11a7 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1cc90992-3766-4bbc-a27d-419d7010d249 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:997b1fab-8154-49cc-aa08-7d3141e65aa4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d73471a3-bb34-4ce8-858d-0c29ce25ffab phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5739973e-cca9-408e-8828-be7ad9748c96 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c491bfc-21e0-4027-9e84-d30a1366ad28 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bde26870-b017-4f55-868b-70b9adf883f0 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0fb6120-248f-4e30-b213-25151d66a722 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:40c6ab7f-349d-48b0-a62f-4384d7eaa157 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:973ae703-4458-40dc-bf97-1ce0dcb4ba04 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20afd70c-2802-4aba-936f-ae07e0765a97 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26493072-cb69-47c9-bceb-ff5359bf2dbc phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b4200c3-a71a-44ce-8ae3-8450b1b5254b phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac9967d2-2d26-41c4-9a65-4a683834e53d phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8e3044f-bec8-4141-9ba9-c7fa3a89b9c5 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4953aee-747b-430f-b168-62bb7b93a2e9 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3cfa2f9d-687c-4dc0-a318-d95f78930ff3 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72488756-b59a-411b-8416-41be72febeec phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca8fb574-73c5-4ffb-bfe0-b442d08e3201 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ad61c0d-8ad6-4068-9a7a-626497a66fde phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ffff7c3-6e0e-4204-a3f0-612b2cd9126a phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26e490db-133e-421d-a4ca-cb3434d7b196 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e11a3f3d-90d1-4173-bf4d-33070b5a05b8 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3202485-9ab5-4dc7-98f9-f7c2e4c03eb9 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e4de287-90a0-414b-9ea5-40bc65214a30 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d94a3eb6-2a20-4ec6-9a9a-57ade2112c08 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:575d2149-cb6f-4181-a4bc-99fda1d52ff1 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcb748a7-9970-4742-9b7e-941ac827c0cd phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:beea96e3-cab7-4edb-9e1b-0173a2a41508 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acf178db-c04b-426f-ac42-11678f8a3a9c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6688c165-9a13-424e-ab13-1a281ca17297 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2f69450-f886-4ee2-9814-cc457d045ae9 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f973340-bfbc-41e8-ab90-f4bb8a0cb450 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8297e51c-ce1e-47b0-b3f3-220889a0de34 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ceab9e7-2c8d-4fd1-88e1-088f7b0c0a10 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e44dbdb2-b853-48b5-8821-365bd12f003a phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c10aaf4c-141b-4b5d-b7f7-3f52001c1b3e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48d026a4-123b-4857-bc5e-ca5d7c489970 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aefc1005-63cf-4547-b812-22008ffca29b phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a929399c-1f04-42e4-9431-64cc70183b03 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dfb48536-ed5c-4a64-8ad5-706652f3199f phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8f1448c-5104-4596-9727-c489e2841521 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0afc2041-c44c-43f5-87d4-07189153ad67 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7621827-ca81-4239-92ea-9e11d45e9c6e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:631da3c1-e3a3-44fc-9d24-24829bae9d0a phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17c1a884-af0f-4ef0-abaa-28cfd1032a70 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73eddc36-b5c6-43e4-8b4f-7fcf90507fd7 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a7da7a8-81d4-4608-a753-4f6ba468ccc8 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ace630ac-11a7-4bf7-b4d2-2cd01a01de93 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99b25d2e-0ecf-45f3-8fc7-ca41156feca2 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a24ec310-c849-429e-8666-4c7d7c5ec288 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f60ac49-2cc1-468a-b0d3-7f1df25533ee phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57de94fd-380c-4154-9ebe-fdf09439d28e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f61508af-8fef-405e-8189-782da5d035d6 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ea07ab7-f2c2-4087-ac87-a1ee210b8087 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:261eb04f-1c1b-4e41-826f-a61537ebf63d phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:327ea746-e8cb-4b9b-8347-431e82399358 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74b0fbc8-b51d-4788-9e52-65d7f1344bb7 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d463cb49-c91d-432e-ae49-84fd5782071f phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1a8aff8-18d9-4b7e-9843-58c10986c48e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9de46df-b48a-4c4f-bd9c-51bd784b8350 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:307c0db8-ee08-44da-9e56-e2b14d94f097 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ded75b35-fdf5-46ea-b411-654f9b76844e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87ae9dfc-a85e-4e5a-a71f-bbeeef34e46b phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4bdb8faf-d240-4faa-ae17-0438b8f16424 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b56b45d2-e8cc-4349-8bbd-9d68400d9227 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbed8aac-994e-4082-a46e-7bf9056a2746 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79e6ba22-afda-4f67-ab2c-da30cd77fe7a phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63c35f51-7732-4fd6-b3b1-97a1fd43e62c phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63310bc4-20ed-48c3-bf84-344b8adcf3e4 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:421b1f7f-63ba-458e-b248-a1db71bd3e73 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62e39dc1-e072-4682-87db-8998c1a9fb5e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1144bd6-71a5-4ba2-8d94-5a4e579ee0c8 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebe49619-b5d3-4705-bb44-e98f568336cb phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99b679c7-fc3c-4d09-b6ad-1ba3b56cc7ba phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0754b050-e486-4399-9578-45ca30bb09b5 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd95c0d2-906f-405c-9054-c4740f8bb366 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69bdf832-0a7f-4ad3-b5ef-540de9a5c688 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf8aac20-e051-4faa-893e-1f6171a47479 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1368397-8890-4498-a9c5-d7f50842d21e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0447c63f-b6c1-47c2-af7b-c3c8865e1937 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8715d8a4-7fc9-46bf-9d9a-4bc0da6ba9b2 phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a042b72a-aec3-4f2f-9b21-d25ee694bf1e phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:d88df923-452d-4c0c-af9f-715f8858c33d phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:73ed6a69-2ace-49b6-9b25-f1d449fcad13 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:54ed9970-d8c6-4722-9601-be843ae2e85d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f4bc723e-6ec8-494c-875f-028b42a4ac43 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:eaf9f3c7-478c-4823-8e4b-7f325dc8ce45 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:700a27eb-85b1-432b-8ad7-d1e0df182b61 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1d483854-b203-4949-a57e-6753d3b1d0ae phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aab43dc6-bf51-481f-b5be-88fd141dcb0d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1c8ca9c4-b112-4e35-bc8a-be3c4aa46bc7 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:77163794-39d2-4e3c-9c93-4eb2ece45e6c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f42c916f-2c07-499c-b5c9-3bc233491f6f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2eef8e9a-a6a1-4a27-975b-deaa7abd9de4 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:984ce666-449e-4918-8214-a3376e4399dc phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fa2f92fd-a22d-4014-8160-b7f37945d582 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f8e18472-f4d2-4c27-92ba-04197760dec9 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e20ec7ec-4ce9-42a0-ac16-45f6aba26990 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4ac2d6eb-e8fe-4750-a78e-2b42208622c1 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:273fff85-860e-4832-b0f7-969447bce735 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6085a204-1a73-4d65-89cd-1bcb05ae6b62 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:95a8ab5c-62b6-42ee-b9fd-a18bcba0eee4 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:22568845-37a6-44b7-a0a3-162cac70f637 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9b320fcd-1fff-4a52-83d9-8c4fe62fc772 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:652a1b17-6bea-431e-8b4b-bf8c4f1de33a phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9a42d4d6-409d-4551-b5e3-5c9d3b22d844 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d124f3ab-91c2-48e4-bc21-f545feda1dcf phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2e7788b7-d9c0-44c2-95f8-d0f9e104936f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aa81e61a-0759-409e-8f45-160779cb37c8 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e95da8fd-d67d-44e6-81a5-813d6174f604 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:41d55602-3c3d-442f-a935-e6161182c7bc phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98e79960-d62c-4430-a0b3-36d5ff66d9c8 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efc32fbf-cb46-49c3-9d1c-4c4087e21a52 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e1c1fde-0260-49eb-bdfa-95ad8bf0fe84 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f56db4f6-357d-4894-8a72-c8e6d98acd54 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0379504b-9712-400f-abb4-1dae583b4e6b phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a182e8f-140d-415b-86b0-023575571cb4 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e787339-c56c-4fa8-b53e-6cc2ab50aac2 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea002695-ba49-48bb-998b-81fb8e57bab5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a63232e-972d-4d4d-a6b5-50ae408a7764 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6df63c67-a22a-40f5-9710-e1592b884f9a phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c728426b-e865-41ac-9552-b359ff4c4b52 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db788684-5a21-470e-bda6-ffcb3f6a8626 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ca9b47c-e652-4242-b76b-0f2db3742a40 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b776c95a-4c72-467e-9204-540662ba5200 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7eea40fc-c6b2-4781-8562-251627d95a94 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85519ab4-c2f3-4fe0-a609-88f92d0ff06f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a763b0d1-697f-4cfe-96d4-6016cb989f4f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0359a681-0b30-4edf-bf73-386507b57ceb phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d12e7a5-96f8-461f-a0c1-bb07932e571d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c497d1b-df18-494a-ad09-68615219eb72 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d2b9933-b711-4c95-925f-9e56fb4ff19d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:723c5439-c323-40fc-9a70-923cdc4df295 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2832257-7428-4082-8c70-2a9b96d133c3 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b95be2a0-7630-49a3-8825-22c4b4ab9468 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3262b57e-bd8b-432e-b46f-7c61da4470e5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5702879b-8b2b-45e0-b786-b08e78bb7141 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8d2566c-1605-4599-a5d8-a731cbb8ee9f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38a1dc1a-1a42-4cc0-871d-8d1de441bc75 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a37b392-9638-42b2-8edc-2c166cc3f6ab phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93df043c-1e09-4327-ba12-e24a88d8021d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d19a1640-87fd-4d34-b132-62dbeb8bcb59 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a6358fb-6810-4ac0-a735-2ec60ab739e2 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c7690dc-a2a9-4c9e-98a1-c36823f4fff1 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e64a4cf-47cc-4850-a99f-d3c0c7564166 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:affe2aff-6579-49fa-9cab-a9f29fd0ef19 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af2d1da4-a5c5-4f6b-9965-3908d3fed139 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:507fba8d-d107-4d88-8484-1409acaaac26 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99871186-e26d-4d17-9f83-0af200a5897a phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46377347-e844-4851-a209-d6b06862db2a phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09012ca4-3e16-4272-8d9e-e9d4484884ad phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:666ebf59-7ddd-4038-90c5-3fde2dcf354f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a48657a6-0c4e-4e21-8116-74da137f5e72 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0b10b46-e52b-4f41-8a51-3d9f5f09f5f5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee9de076-6e5c-46c7-bf7d-68ea48e9e64a phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6746fc91-6d3a-417d-864d-6438b2a73ec0 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c385a2a-7131-4a91-a8a2-5eb6a93f62d7 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:870d842e-2c5f-4b2f-8242-a9cb663ec532 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10d7131f-cfe3-4db9-9082-cc256a6aba87 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b8fd816-1d5e-44ae-a376-2b5caa6fa44c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2b02182-cdbc-4f22-bfe1-05eb755fae72 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c1cc477-5b10-4a09-b232-d6e58e4d1679 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15fb3cf5-14c9-4541-989c-17db5f4289de phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27a27ed8-a882-43bb-ac00-bfd67eed6cf3 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8356e23-0330-4f2b-902d-04ec469305a9 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:602d2ac1-443d-4588-b141-af163c2dc2e7 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9496e165-cd75-49a6-b646-73b954b3a8d6 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae617603-646b-4617-b48e-1f6a781d98ba phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c6a3ac3-7011-4b53-900b-8976ab1431df phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f72fb944-90da-49b0-baa3-03c462ee1b8f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:409b5579-727a-4a91-a6cb-4db9b71d2189 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b75f79b5-5105-4bc1-8b41-2a4c98dfadb3 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a896f498-0284-4812-b2d5-2832bc83b71e phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:539b3eb7-3f2b-42e5-8a40-281b9fd14e09 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:577ff408-9dae-407d-982d-7f3a0754a7f5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9abb5eef-e463-48ee-907f-3465e0c0a3ee phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c69073f-7b3e-4d5c-877d-176aeb36c01f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60daa187-d2f1-409f-a2ff-700a965ba397 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a91061c4-32dd-4101-b11d-9b04610ff42d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c33dca37-fe6b-45a8-a85b-e88f1b4e0c39 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:159c6330-0309-44a4-9498-af4bf223c36e phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bcbc69ef-289f-4e7c-9f41-d4c977d4cb7c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bae7721a-9e84-4569-b3c9-32f8dd37a232 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b22205d-6b39-4025-b85f-b21567ee5c91 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16c0a771-682d-4042-b5b6-7fcdb8281ed2 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e50a44f-0b55-440f-82f4-68594674060f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5cc9e5d-7fba-4a12-84da-1176a2c4a23c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37424d45-6cde-449a-a51f-53c6f98a0860 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8cb83b99-a834-4dca-b6d8-edae571ba9ef phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f504667f-3b85-40c2-80a1-c1204b494af5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:011cb23a-eb81-4aa2-bcfc-a1c057dcbed6 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f947728f-bc72-45cc-96d7-8015e632d1d0 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea6432ad-3cc7-4c30-95db-dcebf57a2853 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8a0015f-b0af-45a1-83de-2cb1018186d0 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c7d58ff-d8b4-4e03-8caa-36d5754213fb phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d87338f8-b9a2-4b03-b2ac-628382b9f3d6 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fd9513da-fc26-4445-90d2-e22b4db08fb1 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74a48f79-47ea-4413-9064-eb5855e0fcbc phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc899d31-1361-444f-9e63-26f384807397 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21d2f14e-c35b-4b38-8d9a-b0dab09c2972 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:736077af-fffe-4fa0-8fb2-dbafa033fc8b phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6a0cb85-fcbf-4df2-aced-64e08cb188c4 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02395e05-a813-4389-9bf3-4fec97d3b5fd phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e41afdb-be89-4da9-9888-ace1014318ac phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a8d2e09-6840-46fa-8ce4-2b381c0dc1c1 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54fa8b78-b9c6-4168-acff-0efed2b972c8 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d34c272e-841b-4c60-ae11-5e922e12c57c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8aa36531-5163-4b19-8681-827931219fc5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc6f4523-df6e-4c1c-a207-00704074b747 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9dddefc9-1286-42a8-8e9c-481c55dbd801 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00205846-fc89-4bcb-9c59-27a4651c441a phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d4089aa-c01a-4e42-a990-7b764e0e0790 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:640e1248-1cad-4679-a275-06ce78ea934b phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b653b811-bdf4-4d0f-a8ec-afa68c00826c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1900dea7-9799-4b51-a6cc-35511b8ddc78 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b7d298d-b82f-4393-a117-f05a6901289e phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:042150ad-4919-4abc-9182-ba4f0fefc262 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0e30f77-d11f-42cd-b0c3-1fb1dceb3e11 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6459482d-c42a-4c04-a632-f400dcc07c64 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9fe89160-039b-4f06-a788-08a873588ed3 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f40fd516-4473-4cd0-9e86-b04b8027a630 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a2fd036-bd40-46a3-a7e6-ec81d2f549b7 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7630e99-561d-49fb-ba15-90cb0e0fd92c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7d0c695-c57c-44db-9613-388dc462f87c phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57ded62f-42bb-457a-b08e-e0905c9faf72 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f54fcdc-8cad-445c-a5cc-ca9d1b81a158 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ed182a9-bce7-48f9-bfe2-c3d0a5f23e54 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b3220cd-782f-40cd-a3cf-bc713c45dae8 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f726953-a5bb-4946-9efb-0f827b48dedd phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e19ef01-136c-42f3-a00b-9b4bc4ba4a60 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aaaec7cc-82ce-48ce-b924-79d575a6b665 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b97a4553-f147-4e63-929e-ad9301b1dab4 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1364b1b-bee7-41c6-b6f3-05b07caf40a6 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae2ce5ca-e362-4657-94aa-194b8b3dec49 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a7bf5e5-49d3-4a0d-b369-8805385f31af phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:261c2936-4fd6-420f-b1e3-d0fa7b434092 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:214fe75d-e9af-4676-951a-8c93083a2a01 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3c23262-9d73-4607-9569-19dc86b482b3 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c21a257-edde-46b0-b965-d506614a4bc5 phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bf6b76a-1c5f-495c-9809-580a942fb30f phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:65f81021-152f-4500-b25d-c022b854949d phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:9144c720-a913-490a-b4cf-80f8750e617e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5da04f00-6beb-4076-af0b-060cb1e3f223 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b595ad19-92d4-468b-b2e9-f1edc37a1a3c phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f6aeb2c2-4937-4956-9744-a659378ca07e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b6a22364-9326-4857-8212-0f7dcf54a7a9 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bfb5c7d1-4d53-4437-801f-feb4e4418d91 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:21eff180-ac53-4318-9b22-ae5aab7a57e9 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f737fccf-2b67-4dc7-8e33-2d2dd19ce26d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7653ed8b-99d9-4c56-8471-f8d731a77668 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4f3fba65-e3ed-426b-9908-9dce5f91bafb phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0755b816-2af9-4f81-82ce-2408fe47e1b0 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ab4ead63-951a-45af-b6e5-f7a800e15ec8 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:60aab785-aecc-4676-8709-691aed6c3879 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:088f0d11-d7d4-422e-b6fb-13c0eb3f1d4e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:95270da6-56ef-4a14-9d53-c287a27e9f6e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3cd57e77-d418-42bd-bee0-05aeec975885 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9c81de18-38dc-48d2-8de0-ec7babba3487 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a174a7b0-9d5a-4c36-9500-627749882d73 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d47ba6ef-6405-4dd0-a9ed-b367b8e1fff3 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d6ac5cc-19f8-47d0-b20a-38a449b0936e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0cfc3423-4ef9-48d2-a77d-69e2ae13ef29 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a76e692-8411-42a7-b392-d70401d28524 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5fb1d699-d396-4113-8f01-fe4b9eabc51b phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09ab9041-9c1d-49f7-864e-f5f687a420d3 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa3ed489-2f00-4709-8106-0c386bbc7ce1 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ceb57089-8cfc-4dfa-a049-da6c01677967 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eff26ec7-72bf-4ca4-b132-a510ab717f42 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:040f8e93-c302-45c2-94f7-06faf35c2a16 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bd5fea2-b665-4424-8a9d-b5b3076ef5dc phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:443def98-5cb0-47cc-9aac-3dbbdb1eb9ae phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79abe963-ff30-4f6c-a259-8e442ae92afe phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae245675-50e5-4170-b4ba-4c99eda3713a phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7622228-6a6b-4237-b667-b63ff4a07ad3 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5c12a28-7e0a-4280-beda-eee1bb151f7a phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:794a865c-c939-40fe-a160-23e24ad704f8 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78be3dc6-18ac-4e44-8fa9-36d4ec427b24 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df22de17-3fcb-4de9-9ee3-b71446340d23 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d3cf17c-0e50-494d-a8f2-3332317ecac8 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95bc296d-4b9e-4149-b044-0caf7af437b9 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee24e8ee-0ff5-425d-9f48-5ead3bebde75 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63364ece-09de-4426-9972-2007447feb90 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ebc3c6c-b635-41e8-b3ec-76a678034c85 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29199b27-3976-4156-8f58-d14244dbe607 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7afc55e6-98c8-4841-a42a-67671ecf6d7d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7dbdc860-e5da-49ae-8bb5-a40cdd4c3a8b phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5045a3f-2f9f-453c-9cd6-2fc236507f4f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc0e2ee1-0e49-4a92-a700-25350e6440c5 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:923595d5-6eb0-4117-a0f0-adfd394a3d0e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:195a8175-a50b-42d7-810d-a6d91085d0bd phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81941b70-426f-463f-9b94-5cabe6ad60e2 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f11cddf-046a-463e-858d-64996efc2197 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b47700c-f225-4446-acee-c99ac48a9168 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d4d082e-8cf0-4880-8d27-6b5fd8e03017 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fd189105-60e3-41c2-9587-4ad75cb38194 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44c157b3-a68a-40a6-8a12-10607432f217 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f34a051d-711b-4b30-a061-3463836ef03d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d60fd9d-b45b-46c5-af39-52f2e9091302 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ace2c8c0-dee8-4108-a904-3492fa62da33 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3acbefa0-4b43-45c9-8dc7-a3092b2066ac phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a453d1a-275e-482c-92dc-5000a58c68ce phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:604beb1f-9b1d-461b-b654-b98a4f29c34f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09ee4926-cbbb-47dd-a24b-bbe23a60d33d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01f2ed17-4204-4ecb-b5df-baa612ffc505 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecfe460b-42e8-4539-bf88-762ab29c9ae1 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afab37c7-c9cb-47df-a897-a5b5290199d9 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75b883ef-eb91-43e6-8941-59fc61f9a3ca phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d3b7c3c-0583-4e26-83e4-ce3dbfd9dd42 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c02aff4f-8ad8-4997-b6fe-7d3731eea1ad phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d4b5860-c6b3-4649-b04d-a4811dc5eb24 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61945413-d10f-467b-a476-60790904f422 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f7024e4-7e73-4fd5-bc00-c077edf89c80 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fec3b4c3-197c-41e0-9cd3-91c7dcb78b6f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b58611b-649b-402d-9c2e-b7e1b629cd7d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ee08e77-81a8-4fa8-a9c8-fdc94516011d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:899a98cf-555b-4068-91da-e4a00aba2194 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e71e4a71-1a36-4fa7-941d-6676f74fd673 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bca57b7-0e41-4874-80d5-bfc458e0c3ec phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e12abd1f-5d12-4d5a-8249-25b162883fb3 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dad5b07b-911a-43a2-b567-2a368da2d249 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efc1f5eb-b00f-4dc2-95d5-c9e2695b92d6 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3c2c7c7-74c8-42f3-ae82-6ecdeb25228d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05231348-15e1-4210-a3c4-d8ba8ab13d5b phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25e97851-d081-4bb0-bebb-98079ccd1777 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67db284d-4fea-4f9c-b4d3-c34dd49cb35a phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:884cde57-682f-4900-a1f9-c3042b0854f4 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6bf9b0f-1a7d-45b3-9a72-682220ce75f8 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c293676f-c431-44b0-804f-08a38d398516 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62cd8614-b8f7-435c-b799-d35431751e51 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad0b76ee-eb7b-4864-9ed3-b1baf8df0212 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1c475c4-252c-4df8-b585-13b0e5fa751e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3c8fdc7-4cfc-4594-a0e1-b070e7b35859 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67e7ec0c-3ac9-4c50-8542-7e95bf228aff phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f8079a8-3f8e-4781-8009-74a8fc5494d5 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e62fa11b-fd93-470d-8f51-bb5f1bee9dcf phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6dbda23e-9024-4383-8225-2002107f108a phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c71e89b3-a44c-413d-84e7-17fec3729144 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47119e61-4c47-4d41-ad13-019cc87f3f07 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e495c60b-6458-4636-a0fb-965bff20c853 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69915c2b-5d3b-4234-b0ad-e288f4782818 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45bb7ec4-c309-4f01-896f-e11864601939 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6c6cf62-6b77-478e-98a1-5425ecc9bada phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea1c4bd2-9e0f-4bf8-9dbe-e7280a226479 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04784332-f53a-4c8e-bc87-e865bb3847a4 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f12cff4b-6242-4476-ab87-7ef6a10e9322 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fbd1be5-9d80-48be-bcea-d6857179ab0a phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7995e354-f4a1-4b8c-93f7-3dd17df78ca6 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa159c95-4383-41c8-823d-45b79a71804d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20ab7eb3-6db9-4342-b0af-d17541d32929 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:932347ba-20d7-43b4-a873-dc783328350f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:686d6ea4-2675-4053-9e68-5edba2515a1d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e356b6f7-1887-466d-8785-439c8f626555 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:187b1099-80d0-49ba-b39e-f0c5a5e1177c phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29ef9f29-b82f-4888-b7c6-86a6bad7d4ce phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e458da1f-09f6-4017-8b5b-a35f15727847 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f1f042e-f304-46b6-8cf3-f394a97f33e1 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2fe0c34-98e2-4f7c-b65e-55c9a880cb3f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:899bb436-14a2-41ed-897d-b6184d41babe phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:974a5098-7498-4be0-98ac-ab4950c68aee phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54f92b51-1de5-4f7d-96bb-e9b683ef812d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f31bc07c-6d20-4627-bebf-2c5accdc756f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42309dc0-1b87-4160-9ada-7e078d4e4c6e phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac7ed3a0-4bbe-447c-be17-4caa2da52d43 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:659d3f38-139b-4796-8092-175fa41a3eb6 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dfb59b7b-914e-4887-a932-44b6fd812342 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9d52e09-4ab2-419a-9841-322c0fda5cb3 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1c3a83f-a721-472e-822f-db7a6897a455 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1950b885-1fb7-4ad2-b06f-7ab5f82b41ea phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e7911ec-821d-4c8a-9443-0037a0a3c885 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a1294e5-7324-4243-a699-34268edaf70b phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0559863-d088-4a5c-b8f9-e07fc059f580 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:712bdf71-218b-4479-9ef0-9be826e5d604 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a163067e-ef01-49f0-948a-531932e33579 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e56f9a80-23c7-4fe3-a677-9574d9ac54f1 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed1fcfe3-6fa5-496f-bafe-571a3dbde46d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e17ec5b7-cc69-4d7b-ba81-033a37d14664 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80d47371-82e3-4cea-abd0-336aa0123349 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae982750-86fe-4dcb-b26c-9cd842e66195 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0016c2a8-7294-47ce-bcaf-4dfc5bf67a66 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab3697a6-4e18-4d19-9276-4af9cd3faabb phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fac1b1e2-7016-49ab-94bc-5f0ba58d3680 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:490b5e5c-bd3d-4ddb-a45f-01db71abfa2d phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30c1f273-0b60-44ba-9c7e-788584e4d158 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2120529b-e424-40f4-859b-0c1fa2b5b328 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5406ef93-945e-440a-a522-4c17c3d4c6d8 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0027fdd-8c9c-4b6d-83b7-80513bb0a678 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:547ceb6f-098c-4f7b-9515-6748706a6828 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a9b067f-290d-4adc-824b-8107e4f5a039 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25d80416-66f9-4e4f-af9a-7e35846bd181 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58329506-8b84-48c4-b4af-e8c211efe0f8 phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afeb86bb-fede-47a2-a98b-c439d84bfcdf phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8625c90-1895-47c0-bc10-6d633e89070f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P10M infores:phenopacket-store PMID:37962958 uuid:cb27c03d-a12c-4f9b-832a-42b435cc7c9f phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:72d80186-aaed-4551-a2c8-34c321c76383 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:7b8bb4ed-1d46-4d80-8fa6-dd11e5343313 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:d31972b7-ce8e-4fd1-a624-7d79a167be5a phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:3c86d8ee-2620-4c1a-a11b-a39b3f87df04 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:044a2c29-8a17-436a-b5b2-c56eb2ee86d6 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3M infores:phenopacket-store PMID:34112922 uuid:e591df52-dcfe-404a-824b-f467b2451292 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:461dca4d-bb83-48c7-a72b-31c37f3abf35 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:f8357827-7611-45d9-8531-722e5d6d8b30 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:ed018fb2-c970-4a3e-8b39-093f5a86d042 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:34112922 uuid:64fd1fcd-388d-4330-8f40-fe47a2a648f4 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:fb4ac33f-06a0-415d-bbb6-73cb8be8fdf6 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:f4762854-1d3c-452c-a87f-06e1dc558452 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:fd708de3-8c77-4173-81cb-9fefc6ffb849 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:f6ce8668-796c-43a4-9129-e26677721da7 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:eb62c883-6655-45a0-b12d-a69ace5d3759 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:2cbb30fb-f55e-4332-91d3-272bb5041a26 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:1888def4-8cdb-479a-a8c8-624ee4f55a7e phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:f9f47f6c-52e3-4c88-9b17-dcb73d6164f7 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:3bbb0b97-4e08-4545-a77e-68533d4a2811 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:2ef57c1b-001e-4dbe-af88-1888a1a7a4a7 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:ef0c9541-c04e-41d3-a3fb-bdf01d5c3388 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:7fd5f8d3-b76e-4d8c-8fb9-0534929d4283 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34112922 uuid:9ad87c7e-174e-437d-a998-6e890c6b5ca6 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:34112922 uuid:f5592db9-eff5-4499-b6f1-1f0613bcb6e6 phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34112922 uuid:f30ca3e0-5342-4aec-a45a-5d314a801cd3 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y10M infores:phenopacket-store PMID:37962958 uuid:2495c295-faf9-4d6b-b6b9-2707f6aa9d6f phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d8e493cd-18eb-4532-af74-d3ee5f9e9685 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d16f965e-31b3-4bc7-8b2e-e23ede0e85db phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:24c04784-460b-43d1-a657-d0739336d26a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:937088ca-e2f0-4f66-ab7b-6da9c9e4fb61 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d401c1eb-0a63-4a8b-85f5-4c13f43b5d12 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:06442e0e-00df-431b-891d-dd354eb83574 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6b896f4d-246c-4e09-bd11-68dd9eb4b318 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3928a195-8cb5-4eb2-b86a-59e27e0e01e3 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7a9270d3-63f1-4588-bc6a-0099078450d1 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b2790500-7fbe-4ebf-8275-f4bfeb83a4e0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e0e40a0d-cb9e-4987-88f2-b69afa2a9bee phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:09b356ea-3bdf-4e10-87b6-1afcafa72d4a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:09b27278-a8b8-4afa-ae67-0c0a0535129a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6e0b7999-bbfd-4c0d-bd34-f926c89fc913 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:55eaf721-d73d-49c9-9b9a-3743ffae1ad1 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f0713711-4bc3-4248-a447-b9dfde32019f phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3b41b17d-642f-4c5d-b653-1f428c69236c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b6f1ab04-aaa2-40a1-9ea9-2d04da6d4c2e phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:509f5728-8bed-4d84-bb06-bc51eb33bb53 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b18416b7-7564-45db-b4bf-7eae74e4c932 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:43ed3f69-6ed7-410b-bc2e-f9a1eda0a03c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e76d6847-e1b9-4e90-9c2a-5e8faf1135ab phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a288b711-9530-4c39-940e-b0387ca4b83d phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8e5dc6b4-ecc8-4573-b58f-7c380ccc9080 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0ba7594d-a365-4f54-9e94-1ee9d6404ca0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9af7e492-b2fc-4cd6-aeaf-5c882e7ab11b phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:62e9c935-96c9-4c8b-9b1d-f341a7e1cbd2 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5f6efd5-f228-4d32-ad99-7e5b4db12739 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b250958-d65c-416e-b894-be8f5917f514 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7854428-afd4-45c7-9120-e2cd659ac8d0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14a63cba-54f2-4a02-8ebf-ada668e437bc phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7bb8cec5-1fe2-4e6e-8328-1f9daf268029 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d898da4c-1256-4810-a30e-0720017d07d6 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2df2e1c-6337-4a8f-9928-fe71c804844e phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15adaa86-9c03-44dc-a178-23b7a1d3a4ea phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37faa00c-ffd7-496b-ac1b-5ac839b6299c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8add1185-cccc-4c29-8c9b-9145e58515fa phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36d11f52-2ee9-4b94-be1c-416fce64e042 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b16ef36-dba9-4998-af46-6ebfc6fb052e phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef2a81ca-16b1-4e60-bf5a-7a0f9fbfd696 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7d5d906-8a1f-4762-8e47-c59af5e93d7c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:113a063a-98de-4a5f-bc2d-4f165a556143 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef16d1d9-969e-4e59-addd-f6c01c787164 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2eb73693-bf87-4dce-8707-508b2afc32f6 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ce0df0e-c0fc-46f4-8711-1c2ee808d990 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d86c19aa-b447-40fe-9d17-312b0617e7b0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c502d57-86bd-4674-bfbc-5de9f1600e51 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:898fb2cc-0378-4943-91a2-d9ce84a72906 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec46aae2-dfc3-4438-8824-9de9d6446cfc phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b53206cd-cf84-4338-8c89-1ffef3c4357c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd3ca84a-3668-4996-bc8f-af7cbb402df1 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76f23d43-cb2c-4fc6-bf8e-bf9ccc859314 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6afc1d7e-f907-4ccf-b1e1-fe79cb8eec02 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61ef0712-cfa8-40a0-8c3b-4894b7eede86 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa88c306-7d0a-416d-8a12-8ea955ce458f phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45b7795d-9ef9-40b6-9b1f-c2eea842defd phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e6924e4-af39-46ca-92b5-bce7b1c545ea phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b10af503-699c-4403-bd60-00d70077f33b phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b9c2215-c63a-423d-b662-62979cc64003 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:935ef0a3-5cb0-42a0-8391-8052145da1cc phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da090b98-0096-464f-ac94-9c8f17e6fb7e phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42da9787-184c-474c-9dff-445abb528843 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2b2a209-fe20-4f99-b6a4-f02164e4b396 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:394a252e-a863-436e-bd7d-00a701848768 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81832cb4-84a3-4b66-a96f-d4233ad98858 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ddc4da1-7a75-4eaf-bcc8-6851a43a7eed phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba97e7f6-d16a-489a-bcac-bde660e391a6 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1509a214-ace0-445b-bbc2-1c57fc937ce9 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a0faff4-a1b0-4bb9-b563-3cd8885d4979 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07d1fe85-ccb1-4cc7-857b-193201c4c0c3 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84854c2c-6f2c-4a6d-9848-b40aa65dc27c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9ce535d-da84-4a42-9f6d-b1a4e8e72c63 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e938bbd5-fbd9-498a-b421-ab4385329569 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c19d2d5c-e8a5-43bf-84d3-52a85abd9d29 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3d9321e-4def-410e-9ff8-1d5a7f149331 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23308dc9-88fd-48b1-90a0-ec4c719ad7a1 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d54aadc7-a406-4fdb-86eb-056ee1d50838 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:725fa98e-f4af-4ae8-b36c-4b87cb5b0f85 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6af37b52-2dc3-495e-941a-268552bbd276 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6da5b21c-daa6-47fd-bfae-03e0d67f8d99 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f7da10e-7e90-478f-9341-11439da2437c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c250e43-1f1d-4d82-8405-4d2837bc1698 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d1e4213-3054-4e65-a835-be04ec71c18a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c14b5933-a69c-46f4-bbed-d811a15912fe phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba8ffa0b-2441-4987-9b39-96c60529997a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8bb7ed10-49ac-4d18-af38-96a582c91e83 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65d225c2-a986-403e-b9f2-c6813690ce68 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74c9b4d8-52a2-4dc5-a8c6-ad0c6e9359a8 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca6df0e2-1709-4f42-8a97-16a3bfc8050a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c4e5666-d0d1-49aa-81da-7799f202d76a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d5badbc-4fe6-4209-8304-bf62d13f5121 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c29dab3-4f37-445a-b4ae-97948dbdd159 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:879efa8d-446a-4c2d-8b2d-2802d47aa4d0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a64e4510-e526-411d-b4b9-41a44ae0e46b phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c408e9c0-1766-4d15-ae6d-34adbf0cb865 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92b3cced-a75a-4840-a81d-4dc6d6b99b06 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4568ee64-62df-4557-a3b2-17c146f46b7d phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d26465ba-52ec-4d32-94f3-881575b4319c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea539ecc-bd04-4564-878e-008367c466c4 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48f3209a-d9a2-4aaa-b4e9-a24e16d16076 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bfeffed-7f23-4b01-9126-0e21a703ce44 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b56907d2-cd4c-4295-afad-770515b19a97 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54339b5c-967c-4915-bcd5-00d9961a51f9 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2dd7fe1-f8b2-4e21-8282-7b7ff0aec5bb phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a57a6c40-2f54-4a2b-871b-861817b44a7f phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3aafe0cb-9e01-4b5e-9793-d9dcc4dc2dee phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63299822-5fa3-4851-bbaf-107ea8818fc5 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85898041-b1ca-4fac-ac95-ae8e677e42fc phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18e3e5fa-2b50-4c70-93ff-4d40c34ab62d phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb4325c7-e02f-4203-b867-7025fac05e1c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2aaf525b-d700-4d16-85ed-65aa222bbece phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0faa6b2-fadb-4232-b01e-55c6c5edf594 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3da6cff5-a53b-4a01-b1ef-48f489d0bf6f phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5f6fa6a-7c7f-4e24-8fc4-e9a611f2f13b phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6316dc47-0b43-4b71-9ea0-fd6a7f7efd85 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5ae8805-1b4e-442d-a33b-0ab3852e5fb5 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ddd6a40-cafc-4fcd-a5d7-a9c7dea036f6 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b0a68c6-e76e-46fe-981a-2907004a5b5d phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d104f161-3065-4636-a103-2144cc8fa915 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0168e46-af01-4f50-9676-8b67db640e40 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85728364-677f-455b-9472-54dd72d835dd phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fc59fc6-922b-4107-973c-f8619df9afa7 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1e587ec-1714-4e16-aa01-d6bef3ed0c74 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:296dc018-f54c-4f0f-92a8-3551e84140f4 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcb0b2a2-27d4-4bd2-a089-36b7e6d20318 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e285191d-c141-4637-aadd-9c6f5800121a phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07d2fbd4-ab31-4222-9654-58b584b9f3de phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8753276-3988-43a9-8fc5-5b0d492f63b5 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:124e2edc-a9be-480e-bdd5-60d472c398e5 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ebde1e6-00b7-49d1-a46e-ceae065404e3 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:314000c1-2ab5-482b-8b87-4facae0df429 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34a67a4f-10fb-4012-827b-6790ecc46ea1 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fda4b3c-13bb-45cf-ae21-58421f3ce7fb phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:641647c6-155c-469e-8f2a-e3f34b32e917 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45fed143-869e-4e26-9dfd-6133f7b18cfa phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28d7d45e-8ef1-4cd1-82ea-d0f2a4fa215c phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cc669c7-3934-4ec5-9864-d76c9d563ebd phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ae5e59d-fb87-4f28-ad82-553c2c3c3f05 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ebc683c-d2ff-4ef6-a057-e941e25a7c65 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25da4298-b507-43d3-8776-35de735a82a0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:daa1ddb5-92d3-442c-878f-0d9f8d14d4a4 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ef2b97f-5dcb-455c-9361-aeb495d1ec08 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22eae09a-e525-4173-8554-d0204f41bacf phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:255ac91e-4e8b-4450-8c39-d7b7e1f0f3f1 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:517ab62d-342f-461c-bbe2-f8b5b85255df phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8428a4d6-0400-4ece-b46a-27b0ea8a3e09 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:539c77a0-e8ea-4a40-8d41-5433ef37a7d9 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee74d2d1-76cd-489a-b9e9-78b5a570737b phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f556eca5-0ae6-4218-9eb5-0fc9af4ead18 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfee13af-51c6-4ca0-8e6f-c2898d0a1bf0 phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P11M infores:phenopacket-store PMID:37962958 uuid:e468fec8-50ee-4cda-ac7c-a185cf714d6f phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:0add3008-81df-41e5-99f4-e2cfd40278b5 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bb1ca6e3-4982-42da-be21-c4d8d2049dd1 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c73e91ce-3efb-4d3c-8528-8bbb65566c53 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7d0a7140-d34e-44b6-8764-a4568bab3bc1 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5bed09e9-31bc-4e87-a2e2-cd5b52eb895b phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:457ff8cc-a186-4d62-bf48-684f6b6b0851 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4acad51b-ef7c-4045-a896-daeb543ebca4 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bcbcb2a3-f451-4600-8c83-ca861ef549bc phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cbc164f4-2ade-49a4-943d-7ab268aab47e phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8c425e1f-9885-4a31-b70b-8bba55d5ccbb phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d9c00306-702b-49b0-9909-56ba5452e2a2 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:979d4cae-761b-4fec-a62c-c2c8404be5cd phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ce824bb9-a2c3-4e75-8a8d-67ebe68646f2 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e3c2a199-44cc-4d7e-a467-0c6e1f35bc01 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c23b4b36-de04-4986-bec9-c54d16d304b9 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:03121476-c7cd-405a-942b-c56f3dcb0e1c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aed82e47-259a-4b5c-9944-3001aea5d304 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a88edc9e-65ff-4968-a314-ddebee305aac phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:75bbf313-d6ac-4108-83b7-e20336cc1c58 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9a4aef43-6750-4869-b7bc-f38c83f5f1d5 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2c92a31-cdd1-4929-8f69-656109de61c0 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae843f1f-f9ef-466b-889c-4313d227d58e phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e26ec08-f232-42bf-816e-dbed6a018e2a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89c6f172-6c40-46e2-a875-c3c42f929257 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2cc84807-5311-4006-8c21-b5ab1689107a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c30704b-65a5-4244-a7d4-e954307915b7 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46bdb691-6790-4ae6-ba04-a24b770b72bd phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3d2ff2a-9b95-403f-b48a-d8ac4552ff47 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39fe7387-5965-44e4-b89a-9093daa35871 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92fafbac-316e-4ce3-86ab-2b45af6e3beb phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:083ceb5f-3877-482b-9ee2-558b6f1415d5 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0937ffd9-1f6b-412a-bc86-106590bcd20a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8504a0c-7ed8-47f6-8163-216463757dc0 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc70e1fa-9697-4e18-a8b5-a68f6a58b137 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:135e8ff6-14d3-481c-8110-182ad3dc5421 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0b24866-8959-43bb-850b-a0b11740c7da phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0252118a-ada1-4688-b4e9-9d488daa02bd phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a89e40d-f056-4c6e-906e-d5a89e1c91cd phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e282d1d-ad3d-4fde-bb2c-94598acb9676 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d61e164b-ce12-40ee-a0ba-4319a64a2a59 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:daa0b7dc-f9a9-46e8-898c-6348eb7d610d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e047a0c-58f7-4e63-b3e4-a97a3a4d4989 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:973ac1b1-e554-45df-8cb9-7e40aebe190d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1259abf-cd71-4cf2-9e8a-075611b84392 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1ee9dd5-98c1-4ec3-8ffb-9e83920b3b2a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cce1c449-b10b-49d8-8c5e-ae4393e3eb5a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0067cecf-9946-4272-9c11-12bac33ac8b7 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0a7ca7b-badd-4bed-9f47-b028a791f0bc phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31122b70-81bd-46e3-8d80-53950fa3ec9b phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a86b1d08-7de3-4104-a882-8421dda019ec phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b2c8e6a-05bb-49ff-a37b-c3ca53dc426b phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00081604-4657-4d29-9d36-2c7037d34e30 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ddcf1c3-355d-4c9e-9f16-7fd775caa81e phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:497450a8-78eb-41cd-b7e9-bf182a648014 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bed51172-1046-4fcd-a33d-27d4f4375d9d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f245214e-7767-44b6-8422-966e8b2bc72b phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6fa89205-43b1-4fa8-87b8-7f6e8bfe0925 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd7b53d7-dfd4-408d-8100-2819bd53ba64 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d9af4fd-fa85-427a-92db-c8ded6724262 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8b652c3-3235-4d42-9ca7-5cf36e358a95 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd31b962-a355-4ef9-873e-a7e18af2ecd9 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e50b844-d5c0-40e3-af72-4b44d5fec5bc phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7b8ac83-9d17-40fb-9dca-bd62b3e85144 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5914ee02-8d7d-45b6-8a55-d123a47bcc5d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e7edf91-4c64-4e21-a342-1b7b83767052 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:505c8d9e-fa29-46a4-9534-d7a0c350bf7f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4592eece-0b74-4c13-8adf-a1892885dc13 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:389bf067-9f3f-48b7-8c4f-fa2110844175 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ad7fa4c-c96b-4db6-8d06-03992cf5cfb2 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc04a9a6-3826-4ca1-987a-3df23a21d5f3 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26fde75a-f2e9-402c-a77e-5b9b2b6e6e7f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dbf7e60a-75a6-41c9-ad07-9bd543c8ea8c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18d458d4-7601-4a17-ab20-d183fd6f22b5 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7086d1ce-989a-48b8-bbc0-be485247f9a6 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7ea1c6c-09e9-4be3-a350-a7f613923c2a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:006def57-e466-4147-99f1-8014d0741865 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:015f2b5b-fe76-4c51-9282-45cc558b6084 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa5825bd-a2c6-4c61-8818-75ef7122f039 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91d7793e-4ec2-4aa8-b837-1727e0fff05d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e39977ca-2ad9-4ff1-853a-d2bcb06bc8ac phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1c531c5-234b-4d48-83dc-3af81f17d29f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e8b37a9-2255-472d-a715-6cda21f8b757 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43391584-b297-42ba-84cd-e02d817a4782 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a26c84e-62ba-4863-bf78-60c89469d6ab phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce2f23a1-0316-469a-a413-d0b3ee8a0d17 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5660a113-c9cd-4110-afe0-9830f20dc17a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c69f308e-84aa-4ea1-9b97-9136eb27bb18 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db01ee8c-45ac-4d0c-b7ff-f07fb606c158 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c08a4ad-80fc-48ed-b42b-e1d8f3af2d3f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:216433af-2ed4-4744-aaa6-15b69801590e phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9588eb6-b639-40be-9636-ef9b9b15b5b0 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:698c923a-651b-4f7d-9d52-154d7100941c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:105e5667-b573-40da-8cf9-4a2a9961c2cb phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3718ff8-f4a3-4574-9379-6521ceafc842 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:092a6e92-12fd-4984-b1c1-9f1580cf048e phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66b28815-a0b5-44d6-9000-4c06f6a8514d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bb63c14-ae0b-4ad2-91e2-a5ae73ee471c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f2d8d8f-d4ba-495d-8c05-685a42413ca9 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:251357a2-430a-4c50-85dd-7c7d7dcb338d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e55a9382-41ce-45bd-8449-db66dc1a0987 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:340c77ad-24af-4607-a57e-850c97849398 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c303e2e-4b98-4df4-a402-9bc000528a63 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be7eaa37-4635-40fb-bf4b-454f690b4af7 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13a29e21-526b-4ece-a93e-a7e92dc8cca4 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be006c3d-70c1-4320-9ab0-37f019022b4a phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a90355b0-e1f0-4120-9237-6be2b73b86bb phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4e43d1e-4715-4265-8c39-a1c03cfce7bf phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:164cedc6-7a46-47cf-b570-2bd87bb9a94d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0b6ae5a-6f3d-48c6-ba45-4635d671b5b2 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a4c46c4-a3cb-4b91-8527-ea36a93e5a0f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ea08753-a5b4-463a-9a53-f48a41edecb4 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:666f4c8c-4fb2-418e-b3de-568ba60cb083 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a63f706b-8be9-4610-96f6-d03cb97f96ae phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64dcac96-d0f7-42f8-95dd-2d31df8f9749 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5ce8c70-6acf-4ff6-b8cb-0ecd1c12c571 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41d41dcf-c780-4e9c-a338-61eb9f79fc5b phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48ef3a38-36cb-4fb6-9eda-52daaa04c094 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2aea0ac7-e492-4db6-bcc3-c433ace95c5c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7114bf58-ea0d-46ec-a647-f1ac71117ccf phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:508f0f5a-9a08-4f47-bd1b-d5b83c57ec20 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e6c0fdc-f4de-4fce-8de0-8068a033e887 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc15dabd-0a1f-4553-8388-eb62be1b73ae phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e05f0e08-3ebc-4678-887f-831b0d75b537 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:adea0eb3-3e76-481a-a219-de4ca6786579 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a69da8ab-ed72-42f2-8614-65aea4e1aa1d phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3026569-4850-4547-be4d-809c6ee3cf23 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97dd9db3-5af6-4740-ba0e-8a4b04a047d7 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f6d496c-2786-459f-ba22-1bc6b562a7bb phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25aeb2ee-b9fc-4d91-8085-e0a171fc35bd phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50c937df-0223-49c5-a392-56852dfd48ce phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a096c70f-ae90-4c39-a97e-b469d86783b3 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2abbbdb-713c-496a-a535-44f214873d51 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5242bab-2cc7-498e-99e0-fefe3b1078c3 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f84efa9-0047-43da-a3ff-3d9002704d65 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7d11768-eb7f-421d-a604-5647d313f744 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78551750-6228-4580-9b1c-69e510ed71f2 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:847fc655-dab7-4445-aea9-69acbbebc3b3 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05a0fe0e-e661-4526-8c7a-9820eb45f4fc phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:420fd546-9c92-45bf-8783-aea377cad045 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f376f8bc-0bc8-41ad-bb2f-c9b29ae01f08 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20cf76bd-3508-41ef-9fc6-fb1bc610fbba phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1866145a-79ca-4ae0-ad33-d6a21ce6970c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bee49a9c-88c3-4ec0-97ba-c43192a1a31c phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45ff5fbe-aa62-4ebc-bdd9-a09d9f1fad21 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c9e7d6b-d072-4c8b-b041-c3094e5604f5 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fefecb3c-f1fe-47c7-8f8e-2d6faca57669 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0961fa6e-3633-40cd-8bac-76e3f592d67f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52851008-ec8a-4873-a1e7-cde18f6c6b84 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9283d1f2-5a73-4344-9149-f04356071edd phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e873bcbd-93da-4a55-b1cb-196ebccb35a7 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18bda355-7e93-405e-87bb-8b61166107ef phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc41b5c3-ebc5-4eaa-8bd5-5c8694058847 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:239d9868-4bc4-4399-8f3f-ebeb03729423 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e2d723f-1410-46ec-b35d-f982a6b897b5 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50c60804-7db9-428d-b93f-a568d9fec98f phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2ceeda0-571d-4722-bd57-760b0df95e01 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7db331e7-084b-422c-94a9-4817d070cec6 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56ce31fc-916e-459a-b291-56a6b09bc790 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37962958 uuid:5c54b80b-1160-43ce-928a-a724106780f7 phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:c647a987-9bda-4712-a1f3-e7717a447d3f phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f86efc6f-2007-4174-8dad-c1db862e1ff6 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7bf30674-a260-4fdd-870a-f3230dc55abe phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:41d068a2-0e92-4317-9eaf-db500dfa85a8 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5d2daea3-1ab8-493b-805e-523b24c0bf44 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e2260160-d2c1-41fb-b009-db5bc89b94f9 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:141851bf-a7e6-41de-88b3-6214d0561e47 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e3f9d1a4-7cc3-4c32-8340-2d1cf9b795eb phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:642db7b1-9e21-4e13-8aff-3af0b0a0a391 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:058113f5-f38a-4185-abe9-d0b14dc20643 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2f3e6b28-068a-4520-8c14-5faf965c432c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e21ea8b4-902d-4479-be42-a8f863dea8f8 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cfaa4c65-2fd1-425a-816b-da6cfb6250a8 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9d360162-e9be-48fa-af3f-7ac463c3501c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:da6a4a0a-4d28-4f72-89f5-7836ad3bd2a3 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dc7f815b-7cba-43c3-81bf-5ad8e34881d1 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a868cb85-943b-4214-aab3-0377e98a8b23 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b38bccf2-9fae-4ce8-ab02-930e9a061944 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14bc044e-102c-442a-90fd-a6204aae3a75 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91dddc2b-12da-46b1-ac98-86674d888cea phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54beb59f-b846-4e4a-aa8c-4fe8abc60df4 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1a7086c-5c74-46fa-aa28-590dfd416537 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d9d79e3-3fcf-417e-bc2a-dd401fb4b776 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:151c8e54-0e8c-4a08-8a61-1f6984f3312e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:670e8843-2bfd-4581-9dc7-41835208fec9 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0ac0804-d47b-4f9c-a2ae-4648bdfee106 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f57f320c-e645-4891-8296-f02b1caff091 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2083c8f0-0cf2-4591-b88f-be43c5473d94 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d5701d5-4a99-485c-92ba-425ab73b3483 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db37e2f5-2f6c-4a03-89dc-7ac399ea6955 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f99c9295-df87-47c5-9ca9-44ebf0bcf52b phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90176345-7356-4ca6-9f9a-8e15143e47b3 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6696042-4dcb-47c5-8fbe-2025b0cbe40e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ffdd445-3d35-48f1-879f-c83b8c3f95b1 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f130262e-7215-4d27-8a72-bc8ba7981afa phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d920583-6332-483a-8fc8-a46ad88b2c6b phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4c520d7-26c4-468d-bce3-08987fb92ac1 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82677a88-8e64-42e2-8904-84263c1c44c9 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a5e724b-c462-4a67-9278-da68af51ff19 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7519df85-260e-49bd-b5e1-148ebf4e841d phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15c38f76-676b-4546-b5b6-1c41b41a3924 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:adf0881b-eaa5-44e0-91c2-274a183dc7b6 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ff445d9-778f-40c9-8104-378517e7c128 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09e3f70d-08c5-4f05-b8f0-4606b3cef091 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29f757b7-e9ea-4cd0-beee-e4ae8346c0f3 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96ad558d-ac15-4c38-a655-2c346179b680 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07c0b67c-a886-45a4-ac01-02ebc6145a5a phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25cc438a-f985-4fa4-9c73-d6838df31d81 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14949bbc-bce1-47b9-ada3-0e25c0f8e0c2 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c76bb875-3c62-4cbd-a3ac-73349bf7fbb2 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db6887be-99d3-448e-b00c-e80e2dab3644 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98abe4d8-ff57-4f57-ae7d-28f2c55fc1f1 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f794fb49-d6be-4c27-b518-b465a2ce7b7b phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:040c7f7e-af66-4894-9a0e-2079f12cde1e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8505e6e4-b0dd-4e64-b93e-37665d5c6720 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0ab8c85-f515-4c7f-a3c5-a78aaaf4d8c6 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34c45366-2abc-4887-9101-c765ed3261cb phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9afab701-e02c-4dba-bacf-d4cc54cc88e9 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62a62464-9bd9-4844-b4f5-28e2e78ffc50 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2211d15-b2b6-4426-bc22-cab341926c6d phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81ace6e3-ffb9-49cb-97fa-b26c3dd2ee97 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30334e57-6109-47c0-ac9f-fe62b290eb1c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1859349e-1997-42c7-8550-655834a70fac phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d6084af-36b1-493c-9b5e-13433f6facaf phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6569e0ce-17d3-469f-a2d8-d5622f6e4f9a phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a86e24d-dea9-43ad-a7e7-3bd74c6e8eca phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:690e624f-ca2d-425c-a6fc-472690cf3d61 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3d3b19a-3f5d-4f3d-8358-d29f5ca99889 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ca66504-b779-48c2-bf42-48caf2d8d53a phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4e1b652-821c-46ac-ae0b-4cc0baaa8bb0 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ecdf0ce-78e8-42a7-81df-0e49d58d36eb phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06138bcb-bb31-420e-83bc-135d249d766e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d6473c8-37b2-40a9-9680-69e7e06cccaf phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1df953a0-93f4-41ee-81a6-bcc36341f09b phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86fa9821-2788-4680-b8f1-a3281fc159d0 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:926a056f-ca51-4d98-abf7-a962f6ebddd7 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e13375fd-713e-4e62-bda2-4672bfddc572 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf0e2404-345e-40ed-812a-6e1087dcb61b phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a62bbee-9b40-4cfb-9966-ddcb8597aa56 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38b885d1-3bbf-4fa9-b236-aa74eef114fc phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf507697-bf4f-40d0-8a78-bd196829db49 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52bb0cb0-0b4c-474a-9c11-afb22ec8730c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a50c0f5d-2cdc-4b85-b945-7ffb9a7543fa phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a18fe8d-b64c-46a3-b9b9-bac814631859 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be577611-69d0-4587-9964-a77e07d4dc4b phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:209ebffb-7307-419a-86d6-c94419c59e7e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00e8228e-33a6-405b-94c4-34e85baf41b0 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:988308ef-1123-4800-b33f-a467f7704130 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d45f715-5ded-4c88-a1dd-6a75d8a66cad phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c181c908-729b-4d7a-813c-cb990f59c487 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca3882fe-e1be-496f-b9fe-ba7083e48ecd phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e122ec19-af6c-4cd6-9e5a-8848825cdfcc phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38dd46d0-eb93-43b2-908b-9e03ee5ede9c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8075797a-d4cf-4f7b-ad1d-68e922b8d641 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:482aea31-c8a8-45b2-bd1c-12b2aca08fd2 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7da181c3-2ccf-4541-9053-db1491d6c2b2 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9378258c-0186-4208-87d9-581b0a757344 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8b0b506-91ab-4234-8fc9-23c182c70277 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abd8675e-5785-4272-823a-63909b1d6486 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0efb9976-77af-4bb9-a2ca-eaf4c5e7285c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35183d22-c48c-4d0e-b081-4e113118465e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c117706-6936-4e43-8caa-c740352807bf phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55d0cf5b-88d1-40ab-b16a-fdcfd7e85a1e phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c19e5cf-3548-4c35-9dda-36cc7e3da6ec phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:895d89b8-e6a5-43a6-95e3-3aa68eaeefbf phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b474cb43-e668-4063-bc99-31961f8bfa20 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71a153dd-bc4e-4798-a0f9-d5a50e246451 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3eb4100-18f7-437c-9dc5-50002f142df6 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ceb61e09-4e05-4b18-a3a6-d4ddbabbbef7 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa88d106-51fc-4b91-8544-fe4f8cad3186 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0271d41-69e7-44c2-8d7e-30f70c99bbaf phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:354d33e7-2af0-4d4a-b939-e4ec6021da30 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c9caa02-2269-4b81-8978-e317398b0967 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4c9ef7e-7ae8-4188-811f-fdfd114d7ffb phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06140941-b532-4d16-a4d8-1c6f327569fb phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ed526ef-19b3-44cb-87c6-d9d6adeb0802 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f22ce91-3656-46dd-b0f0-1b61455cd690 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0172a1e-39c7-49fe-923d-72b4f9d4c2d2 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:444333a3-d30f-4986-9418-14da2e4de180 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1325d325-edcf-430e-a6d7-175d79392769 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20681596-3a58-4f16-be90-7c13f00b740a phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b4006f1-c648-4c07-8482-dd79b5b0d700 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e8d9338-6f49-48a1-b96d-5e7868348842 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73725e3c-f8e5-44a6-a63d-4f62336acfd6 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ec11feb-1dd3-441d-b1d1-6cfed73a9883 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21781e54-be4d-4b31-a9e5-c2403e29ad61 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1cb7800-3d54-4b88-bb7b-542d89420a41 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a713e37-1c84-4287-8fae-1fc166890923 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:737bb19b-89b6-4c99-a1dc-deb55ccec1a1 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:392bd94b-ff64-4fb9-ace5-2e9d675d5ff2 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f58b2c3-3cd8-4bb6-bd69-6c82690cb09f phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c388abd0-9ace-41ea-84d9-6801af7511c9 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db57ab12-94eb-46c5-8d8c-fa152ba95622 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4a60547-5946-4ec1-99a8-bc1ac6f6b9dd phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57ffc015-b33d-4335-a030-d07fbe666daa phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:592fff5f-392b-408f-b193-cffa74c23567 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2ebfe78-f9a6-4065-9526-f5dea385c708 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6851d431-1304-40a4-92cd-288b8ede1bcb phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1cc63ce9-642a-4379-bae7-d516d11d4ab6 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf58be30-78a1-4542-be2c-bbedcbf6df6c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f325f23-265e-4c36-b68d-5a9d536fafdc phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:caef31e4-00dc-49f5-b9fd-b957fb80cbec phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03fdf553-8127-43d9-ac55-ff45c2b25468 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cdca6a04-beb0-49d4-80b0-4b6cbdd02b19 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5855c63-fca1-45b6-9d70-40c55a6fb13f phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79a468d8-17ea-4331-b7d8-4367cb2eeb8c phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08e3fded-863b-43dc-aeb9-6553bc1e4345 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:028f3bd8-37ad-425e-b5dc-15126d6e29c7 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a28da8e6-4809-41b6-b841-ea9cf5ca2089 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70a90dcd-0536-48b1-930e-fc2019daaf2d phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0de4cef-802d-414b-a764-fd1f322579b3 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e2c91a4-2b5f-4985-9cc6-e36ba604f441 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:095cf705-3570-4a3c-8592-fa2b84865605 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e185350-f77f-4574-a6a3-26a5ade7a408 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:e99d6c92-a9f0-45e7-a11a-93102593d169 phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:f721dea2-0a53-48aa-ab3c-30183f627c07 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1934170d-7928-449f-943b-1d39b648f43f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:63288d07-95a5-420a-9acf-be3e458ed108 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bdb49fe4-ba05-4ddd-93b5-6a180bf1020f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e62d135d-3e6e-48d0-9d3e-b3e5b0071714 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8115e169-0e70-4acc-8f6a-551975ff45d1 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cf151ed0-12f4-4530-82a5-13438e820fd4 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6f2534cb-d421-4765-aba8-24c8febbdd59 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b252ed19-0601-4c52-a225-aaefdeba0945 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0f2bb510-b8e1-450d-bfba-333c6ffbf776 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3703954c-3c28-4ffa-b125-215b3a778df6 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bb30b214-e985-4eb6-8770-4319aa738be2 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8f91ae2b-aef5-44b6-8b1e-efce61d1baa2 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:183eadc5-09ed-43cb-b362-2efbd81be28f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:40182a04-1f47-4250-9a74-867719696aae phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fc5790d7-45ab-4710-9e83-6591312a9fc1 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2bbdfa5f-f1ae-4aee-884b-d082e726dd34 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:34c0af3e-4fc4-4c04-a5be-037a36656870 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:332b8532-d6a6-4ad3-bea1-2d708de1b80b phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6dbf4c3-826e-4375-ab29-e433d3947953 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55f86af7-9f40-4e1b-a8a4-e1c4cc50e0ed phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b43d423b-1c6b-44e5-a5a2-e118a9ebb821 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ee3db54-aa9d-4ee9-b48d-29d0e8fa73da phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b286e7c3-bcbb-45cf-8076-0b901ca0fa15 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:684ae36a-5592-4b36-826d-4534f2b40df2 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa53c840-838b-447b-9d97-6c53bfb6e5b0 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc003de2-3836-4623-b89d-b8b2c4a913bd phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52ca098f-a49e-44f4-90f8-8473527b4b94 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2cc152bb-06c9-48b3-810c-78913ab4cfb4 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ba69708-572e-4b28-b3ff-085fcae7f15b phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e051ce6-8358-46ff-a2b5-288f8b71bfac phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a670eaee-dc78-4417-ad88-2a1f474ec4ec phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c26ccfba-54d9-4c80-a041-dc639bf12edf phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08bbf9d7-4c15-4f4d-b151-644e4e545336 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0efbe0f-505e-42d9-a742-c6ef54d74ac0 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41b9b5b5-5563-45c6-a931-451701d26cd4 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6eed875b-f571-424f-9af5-e5ff5c12ea4e phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d2d38b6-adab-4a2e-a5ea-5b6d9e987773 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61584e16-c6b6-4040-ae63-c6301bc2247e phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8691deda-6390-4715-b1f8-f89b2413f7f8 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45abe4bf-647f-460a-a33e-eb1b232af50f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba3c0d07-32e7-41af-bd5d-592ba13ece38 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2109314-dbf2-4fc7-8215-20f16651d34a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d49965fd-ecfc-4e9d-ad38-fd4bb6da0e5e phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2663ff1f-eb06-49d1-8e34-530513f046cb phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e175615a-89a7-4abd-aced-7f7ff5a4a9cf phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e48c70cc-303e-4b13-96f9-66970cad2ad8 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c313537f-bd3a-46b9-a504-b1c34c8a40d0 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9027f6c-3635-406b-a712-8efeafbae241 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b388e702-0de2-4cc5-a801-f2ed6e462f07 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ff680c3f-062c-4f53-ba45-ffa6b5e68ad9 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5c77ec0-83f1-44b5-861a-968a1893c496 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23a3ba49-45fa-496e-b125-9979c9b9c898 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1fb9cded-5755-4e88-a239-98e903a4b3ec phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba34472e-2530-4fdb-8094-5053dc0d309a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d714c597-475b-47d7-b3cd-e767c9f36b90 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:978c6319-c29e-4f8f-b22f-109ed3e8edcb phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76501ac5-8859-40e4-a063-d2a177fc161a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d846986b-eb12-4716-82df-270c8e15d8d8 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02e709f4-cea8-4124-92ae-a3867f938ea3 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39371d5a-1ba7-48cc-ae49-e95652317c7f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3127ba12-af96-47a2-9e99-1c4118bf6020 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6aef508-7112-4ffb-b912-e8823c940396 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed99707f-7cc5-473a-bcea-03d2d6c61445 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80fafc78-249a-4ffb-9f15-67ff60d546ec phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91d3602a-8878-41fd-860c-b9d2aac8a889 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d48cb2d3-3dda-4536-893b-2e79ccc24977 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:197b3199-f844-4f0c-9950-4b17c4bc2248 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b402a09c-732a-4e81-b909-6fcbe8128b0b phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e470ef7d-a912-44ea-8b3a-4144e1d1b034 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb7b2b2b-c32c-4ef9-b818-273f44fc9736 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17cf6d89-8c2a-4c8c-8379-b32c368e9ef1 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:296659c2-e11c-48cb-a8c5-1970147914c2 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d5a622d-3656-4bf9-9679-53911d922d1a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15aa4043-a976-4b50-b1ab-4a135d276ff8 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56683fc9-0d47-4974-82f1-20990bb2b69d phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfdcaa23-3db1-4521-b11b-0f375ae8210e phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:397e3f6c-9838-4a3b-9a5a-d7d1b5a14fa0 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11447dda-108e-4838-b84a-931f4a7c1fac phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f54a048c-cb8d-489b-a26d-cd38ff59c7a8 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:587d78c2-d0bb-4e91-9d1e-022ef7f02932 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:690f8320-a7bd-45ac-8969-10637effde6c phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e341b1eb-204a-4312-8bbd-694c9bb399d1 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:453ada15-f256-4603-b7f5-652c130fc638 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ffd68dbb-bf56-4af5-a2e1-9bb85d85d7c6 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e633c87b-4360-4223-af8c-0107f983f76d phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0269f37-a1db-47e2-943b-8636c8ffcd9e phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:caada421-dc25-4118-a239-fe2847780370 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c5039d2-7a22-4228-bfc1-018615bc350b phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5176b6fa-c458-4dd2-b2db-3a95f0c649ef phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7967b69c-7c0d-405c-81da-85c9d7291dff phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c400f58b-e69e-4461-ae5d-e2daa5b35f28 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7174ec1b-128e-412e-9fd7-2b3d87e081dc phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a0807b1-67a8-43bd-80c2-e68aef8b20e7 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb3da6f9-8c6f-487d-aad5-7b9c6a815027 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:babcf2d8-5c46-4619-814f-077c2fc5ec0d phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3aaa7d7d-bff5-413b-bbb5-fea86e650854 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c66b17e5-3384-4355-9963-392536f9d895 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90d6fe6d-9acd-4498-ab30-d2778dfa7c57 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d9b9d72-e39e-4506-bf78-36f5bcbb4f70 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cec60a2b-dd3f-4339-9b8b-14d5868e43cb phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20509186-c30d-47f3-8c58-2abe36150b85 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55946e53-b7d1-4a43-9104-278950971c8d phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64a55aa2-a9d8-47f1-a166-d4450166ccf0 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9aa7bcba-71a8-4dfb-ad50-a84a0d54d9f4 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38b04b97-b610-463f-8e74-bd29f6f781bf phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3366e0c3-0c2d-4679-a092-b1d5f014adc9 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f61ad97-95bd-4883-9394-52f4c0cdcad9 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ebb77b3-7af0-41fc-a787-5c37c1985896 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa9165f0-992d-4494-bb6d-ab178689837f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe2cdc31-322f-4b16-ac68-e724f17d0fb6 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92631cfb-96fa-4890-a4cb-2aace64a1613 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:944843c8-214e-4fff-8351-587ab233b62a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a484f040-89f6-48ec-bc85-b3724d1b8b7d phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:547f501b-ae19-472b-9cd7-25b4fd08f034 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0fb3c2b8-dda4-4f88-aa52-f8a2904865e4 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82af846c-dfdf-4af3-a69a-0595cc5b71a5 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb3b1be0-54be-4fb1-a245-3dffbeac8627 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9bab8d5-eeea-4858-9cfa-cf6a5e30546b phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0db5e545-cfab-47fa-bddf-c4e69e9c07fc phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4fee5c9-8d6d-4a07-aa3e-5c3a92300bd6 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9706c6fe-90c2-4acd-9510-3912617a8422 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cf829b0-e692-4c38-8c45-71671ca583fc phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2dedd6bf-2662-48c5-914b-c2b287289347 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc9bb9f9-8a07-475e-82d1-ff2de4768d31 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b32918e7-0b3d-4bca-8603-ff5ebbebfbff phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa48ef8e-ae9c-4748-825f-e767b61cf4b2 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea9f8745-4352-4aec-b476-4defe124b779 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58360fe4-261a-4e29-8520-13d1da8cb03a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74a25976-1c7a-4a65-80bd-c0221bdcdcfd phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1eaabadd-44b4-472e-b766-2b7116202a50 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3076576-f7b5-4886-b860-b2ed36496470 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6343cca5-96aa-4dfc-b7c8-b5903e068de2 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07993889-047f-4bde-831d-4054649a4774 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d78b843-45d2-49f2-8ebf-cd230956763a phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54d18fef-2d82-49e2-9a8c-c981ca308270 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5aa5088-b658-4d9a-acc2-41c67fbf5ddb phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:171b04e1-c55e-4381-8dd0-2f917caa4ed8 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2ac4b5c-c8eb-4603-8596-7a5cb13c02de phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8103415b-aff3-4946-b8c4-c49ac3b41038 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bfcfad30-def5-42f2-868c-e6b25a1dbb0e phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b36d983-4c27-4035-a335-455bd6b205fc phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b49ae49c-7c11-4ed9-b9cb-226a3bb3a9c9 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eadce6e6-9c6e-4311-9d06-9eeed9e49e09 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2719ae8-3cca-45a4-b840-5ce4d8be4958 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ef7517f-adc8-41e1-998f-c9440e05002b phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57b800a5-15f0-463f-9d62-77222198e742 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6df193df-54ac-49e0-9cbe-ab7bff1babce phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:530ad0f0-f5f0-4922-a4b7-79fbe26aae36 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68c2ed3b-6684-416a-89b1-673edbd85590 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c70d601-4075-4917-8194-b1ed70164c3f phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5adb136-e98d-4a96-b268-068d90071aae phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7de3fea0-e1c5-48bb-9105-61c2d55d2126 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4b9d367-5fe7-4dd4-b206-abbb156c519c phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17200669-e449-4eb1-abd5-73854de9da34 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36a0e98c-4e29-4bd4-8e70-8f4a80eac927 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:37962958 uuid:36f8fe16-8228-44cd-a7a8-48e5836e7605 phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:b8910ed3-29c6-4461-992b-243ec9c682e0 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a19d1dd3-714f-43c8-854a-ddaa59e02a5c phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y6M infores:phenopacket-store PMID:37962958 uuid:42016899-9198-46c0-871b-7db8860df464 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3741d5fa-210e-4011-a7e3-3533c7808db8 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c7035d9b-a868-41b6-88ca-134afb25b4ff phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:191a9e88-fb65-4061-952a-2634c5d1b195 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:67ce87de-4703-40c3-831a-a3cd16fe46d3 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f8eb1c7c-28ba-42dd-9cb2-77f8e60c5ac3 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:728af234-219a-4f04-bec7-95bf704410df phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c5cb4688-b6c0-42c8-b937-650c564aabc6 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a42faf0b-7885-4e37-b4ce-69f8253c63de phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cfbec29e-b656-49c1-b06a-2a6e2f1ce263 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:49be5459-051c-485c-9752-83482b5848ed phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f4e1bfbd-b8c1-447d-97c8-7b933eb90661 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:260f337e-84da-454b-b1b6-eb0e47b213a4 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:23ed3b2e-7c99-4c35-bbb5-f08bccb63c35 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:683c5d31-0768-4c5c-a436-ccf0378bc3f4 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f2491b2f-54ee-4360-89d9-89fa6add333b phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:21b0bf0f-1450-4d9c-981b-c2313b8b5210 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4a3ec638-8c0f-44ca-b7c3-c21b091c4332 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e4fc61be-ba0f-497b-9ded-a0ced5252ad3 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fd9a2dc1-1061-4087-baff-ac50a8e95ed9 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:00c41041-549b-4a5d-8bcb-5c0fa44e326a phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3cd53076-449e-42ed-a2ca-10a933dce54d phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:215f3821-b10e-414f-ba93-b85eec1245c5 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:486e853f-3e1e-476d-a8fd-3bad50c8d585 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:43907c13-6045-4aa5-a42c-4cf6b59d61c9 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dfdfe623-e790-419b-9079-2283f02fc3b1 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b0d37990-479d-4899-8118-eaf4c28410ef phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a5d8dcc2-e3ab-42f3-9fe6-d841a188efbc phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c9cfd0b2-796d-4334-ad9e-920070f8dc30 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f6efa9f-c097-48de-ad54-56328df05f2a phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b22a6f8d-8b62-41b0-a9d8-76acfb986f40 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21171ed5-ac63-4b0e-b4ac-1567467402eb phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:958ce2c2-bfdb-4281-ab4a-89f076ac49a9 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4332e438-66c1-4299-8a07-7e00d83473a7 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1531512e-f252-4968-9f1f-3534e1a79e83 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a72f7402-c5e6-4dac-a601-fd153e79a076 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc0772a8-01db-40f5-b3e8-ea21c8bceadf phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b653086-fa4c-49fe-99b8-fa04269861b4 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a45a20b-707b-4741-9d33-2f595e7a0170 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c4c1f4c-d631-4f72-b37e-9e0e5be820d1 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ecc0967-35fb-48b6-abfc-d319a7885ce0 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b906e55c-30ee-4ec4-b1d3-c38ca622511c phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b6451c9-27c8-482b-8fcb-4e0b2a6f41d5 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ec82ff0-feed-45db-b16c-f0bb2ee587a3 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe811b34-1b92-402c-9e98-d0f9ab139e3b phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f95d0a41-da1e-4fd2-94dd-510d97ed10ca phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22731dcb-d6f0-4e8d-8fd4-116efc1feef1 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6498bc2-7f3c-4b6b-a895-b53a945237ee phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebf4f8a3-175e-4ae1-a7d4-c0a4b08fe141 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:180750cf-00f4-44e4-82c5-909e7923a30f phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8d165cc-2300-4908-8a8f-f7833e0b3ab6 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a994ab0c-da0d-4869-9222-198235c7fa91 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc9eb83d-ed65-4713-b9ba-40ca562e1735 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4a240f0-8a11-4e44-972b-3cc6b04e2474 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9ddf556-8596-487e-855f-7554ae861144 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8d7988e-52ba-4a68-8479-de62944661bc phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce67b7af-b670-45ad-a051-43ce97ce3b61 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60e7b86d-991d-4fb2-8dda-3df2d63e1e81 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2e73d03-a22f-44ea-a730-a08f25c84e71 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f191dc0-17c0-4e6d-9078-b61936e255a5 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ce8c493-84cf-4447-8a4a-e6c2751f3289 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bc27054-3bd1-4d78-ac5d-7fcbd4485c9e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2fd9fb6-21fe-4451-aec0-f9dfcd2ca3f3 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca5f1f0a-46e3-4d3d-bf56-0e81b2985026 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db8ebaf9-5251-423a-a11a-13130ff9901f phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:522a7314-01eb-4c4b-bb7f-37f40bf77fb1 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a6c3c03-3bb2-459f-8eec-16320655e612 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d63af055-b134-460f-9d49-b70d859d5923 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:765e5580-03a2-4852-9631-31569760c612 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:217b4874-309c-47d3-8e55-2718a9b8dea4 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33fa6c3d-bef3-4427-b349-b91b09e5ab12 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3dc5e35-a40b-4a4a-a59a-73294ec256cc phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:804980eb-6df1-4b3c-8787-67829a59e855 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f8ebea0-6364-4166-a76f-8afc696b4097 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b28bc6e3-6a99-4764-a242-153b6e0f1771 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:878711b7-8cf4-41bd-b6d5-795907f8a2f7 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4790356e-ffb9-4bc6-b257-50e5f2e4e4a0 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d2fb801-fb10-42fb-873a-c752c0ba43d8 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b45b7d5-4ba4-4db1-bd3f-d9a25ca3a95e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0417be4-074c-4ccd-bac0-1de4a87b5b30 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49be60d1-26e0-4086-9287-8068f55d32a9 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a4a0159-b028-495f-948d-7119439b7664 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1d8c40d-f596-4699-b586-c7153c1deb31 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51f82a66-1471-4d93-b6db-c7d5a68d847a phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8bb0015c-fda9-49d9-ac5d-003b74d2f362 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab311628-9af5-4460-b73b-a9b37bb33cef phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5e4ea1d-2062-4bec-8e54-d00c18b66b87 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94eabf80-2d34-489a-a8ab-ca773928ee9a phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:957199ae-3cbd-42cb-ae89-c17ddc8fdca5 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b419d71d-171d-4078-9e92-8e4869475800 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:19aa5672-3c65-4b30-8598-a7cb38032a2c phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6ab24f7-349b-4a02-a338-a950d3c0b358 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2a1a358-f2b5-4818-a904-efa7da42e4af phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da8936cc-b8af-44f0-a91e-653c72986791 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c905032c-f9dd-46a1-a021-d9be7e87b0d0 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76dee7f6-8cee-4f32-819a-8b46a975b3d1 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6ad9d5f-bea2-4641-91c3-bef60c643799 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c481d88d-a473-4484-a46c-f9cd0b312493 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e289e33d-989a-4db6-bf7b-631c588f9d22 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4928f2d2-2fc7-47ad-b927-8584c0d9a8c6 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbfb6573-ca69-4863-99eb-e356f844d9ed phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f71cfd1-7526-494e-809a-626b7b7c686f phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da1545a7-d715-4b90-9b7e-49f84ba1ba77 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:973a9564-531f-48bb-a97c-c07f8fc23dd3 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f898d0a-cd48-4586-a5bc-90ce0e6bd2aa phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a6b1162-30fe-42aa-9bbc-e4b2501b868e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:777a0ea6-7ef7-4aa2-b711-796c74aa4c49 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c002f8e-29dc-4417-b950-f911bc72db65 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e1a4310-2cf2-4d75-9ca5-24a6b928c0e1 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1564ed0d-2f16-4ed1-9813-15efabce7bea phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65901287-68e9-4631-ab2e-5c64a7a6be1f phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8f16bcc-5374-4cb5-ac18-2ba0580ac534 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a933bdf-5261-4a71-881a-5a73998eb651 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a704241-2d95-4dc1-8537-2a6902d3209b phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8614c411-30fc-4c78-8faa-257cdbe8c2cd phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a6604ab-7d32-483c-b698-e2bbecb26e2c phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47bf34db-8755-4691-ba5e-057784b62977 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c43e3c46-1a7f-4f92-92f4-5557589ab5a7 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9bfd124-980e-4d13-8d08-30af5aa6c369 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb4e3351-c888-4f1d-90dd-4851b58d3eea phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29483db2-3675-4b41-893a-832c5521d823 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f63f940-00e6-4e37-a46a-1d436578085c phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07ead013-21ea-4bb5-bae8-55749f0ebc1e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4bd6a707-b2f0-4fb8-abee-85b263b03548 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab6cafe1-765c-46a5-8eaf-538525bcf6f2 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a52e7418-bfd1-4803-b1e3-4143a5da3e58 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1302fa6f-54af-40df-bc71-9fc3b9017e1e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:383fb72e-a1cd-4f34-9c55-dbd294103f6a phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e31e8fc2-ef39-4536-a35e-b6e3fa6f006b phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:964e4600-9818-4c15-b2e8-7bf11eb3b79e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0eff39f6-d834-494d-a419-12e900447edf phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c98f0a7-1e73-4ab9-8a9d-4d1490e5e5bf phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ae44fa8-fbb8-4633-b6ca-7090eb7fdd07 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb751234-e440-4526-a50c-d36ddf36b64f phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71ffed19-5fe0-4bef-8bb1-6d4a4a9e5bff phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d7f3b4e-3238-43bd-b30c-222afafd16d4 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ae3f6bd-560b-4fec-a29c-5fea183119ed phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37208da3-f8a4-4038-9ad6-f811ddb36ba8 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee9dbb0b-d2d7-4e95-840e-4e6e7b494603 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84d12151-efd1-4e0d-a0f9-a23b2cae7689 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59255026-22dd-40ba-adae-cb7f4a6c577d phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:181dc77f-ead4-400f-a685-38ddb847fd2a phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4828e3fd-7ac9-4592-bf96-5957c2ca660e phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:171cf0d1-b461-4694-b453-0ace6e54150d phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33d93a31-c974-478b-a2e3-3d0000080f66 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f530a44a-078b-4ba5-b32d-8090728450cf phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b444ec45-b63f-4296-a07f-dd5efca0aefd phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49b782ca-2825-40fa-bc15-8c4382fa58ff phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7d19b1d-295c-400c-b944-0c523a586251 phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:040d6c7c-99f8-47d9-9715-5041656c99dd phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ad4eb9f-6ae0-434b-95f7-ce63f3aae6ba phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:37962958 uuid:3abac236-38cb-4bfe-a53f-9ad533adb50b phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:df2af93a-680a-4234-8292-7aa9e5edf6aa phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y8M infores:phenopacket-store PMID:37962958 uuid:9a0c2242-76b7-424b-9783-b8fe838fa020 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4b3fa958-0fb2-4e90-8c09-6c9a28389291 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7920b917-b36a-4c36-a60f-ca47f7b4dd68 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:40dad0b4-4814-44d9-a0fc-65ac7bc02a6f phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7e68ab9b-c0a6-4ab7-8ac1-b16ae43b95bd phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b7c4cdef-ff3e-4a35-85cb-834b03949c12 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7c320fa6-5e9b-4ee4-9904-d6fcf806b5c9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e88e0622-4bd1-44b9-9c2e-6c0a8090ad46 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f1477e65-9b6d-41ef-b128-1e3a8b09e5c3 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9e49bc08-2f85-41d4-9526-bfa32a3b92d0 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d6ff6bef-c35b-465e-9a48-007d1b66d2cd phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8f6c5761-faa8-4dc0-97f9-233f1a7e13d9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2403e9e6-5ad8-4282-80fe-8dff372ba460 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b451140d-01f3-41ff-9b88-d141b1f8a9d3 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:efae22b8-382c-4762-8903-d078acf5b5f1 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1b6750bf-5ec7-4183-94bb-c84f2d8face2 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:66dbc64d-9809-4391-94cc-867e5542f3f9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d7bb4d7b-cc30-4c39-b61c-14caad8d25fc phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dc53c50a-a021-492f-969b-94d0d34fbe34 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:734a1f7b-d8b0-44a3-8020-c5ba105dbbfc phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:99be0b07-324b-4fcc-9fd7-5f1ff7a0148a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:18333374-cf97-41b5-bf39-c26c2c275697 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8a1464d1-189a-458e-a1e7-d3e4b88cbbec phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1d488d90-bb07-4a26-b84b-7ef9f5250e21 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:471d2960-3c54-456c-8bdf-0a485479ad80 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9e4fcabf-750b-4cb1-a8e9-801b4f734d05 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:df25808d-24d3-445e-9b4e-19aadde3cfed phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f6f5df68-e836-4466-ac10-facf63c3ecfe phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d954fed1-a41d-43df-a0f1-f0a8cd219bf0 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:186d2f66-7517-473f-a282-5dc5df1d3353 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:73750151-4c59-40e8-9e1b-96e1fcc93382 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23d5a0f3-bdc3-4f8b-89ac-9e8aab0cc49a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21ac1491-2406-4b63-bc4a-16f3d10c76e0 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6cef7e8-d076-4b34-b3ee-67b0540a3618 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:355a621f-81b5-458e-a9ac-d5f26b06fd79 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b275e66-2fc9-4f0c-9a5b-c90a31e1f4ce phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e67036d-01ea-406c-b6bf-60d43eb63e11 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6eff748-1a66-4a3b-b6b3-a446189dc444 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a401e3c-4c7b-41b0-a5f0-bbfc5df5a750 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:297c865e-e7fe-4940-8e86-913d4c601995 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5fdd12a9-509d-4902-8602-030de793a3ae phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf0c3162-a105-4716-b2bd-f2445ffd55c9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6b2474d-8dea-49e2-80cd-bdeb90fc9a41 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72ab6ecf-e8a8-4133-a57a-9f8a1de7e832 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ffa585e-159b-4050-91f9-6c8b5751be15 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33eca749-ded5-4732-a7bf-84800a46bab6 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf960b06-2ed0-4b14-a941-9c55ebd06a57 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5aa778f-1ddc-4f9a-b962-89b02b312edf phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5295fe8-a2a2-4ea7-acd5-7eb50b36970a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:584c8945-efad-4e50-aa2b-827a88dcb30d phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12fccc32-f48c-407a-9faf-093368525685 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efebf1a5-20f4-42d0-84f7-67bc5022ee29 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86ab07f6-6f9c-45a0-a934-090fdf63c259 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2e19eb9-a0fc-45be-b8a3-de383edcf4fe phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ff7ec369-e2bb-4774-9c81-27f9e4c749a5 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da19547e-9a22-4731-9a8b-4fdac48e320d phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b2e6a0c-3295-4adb-abce-f774b1a0f9c9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc9ad03f-5770-4bcd-93b7-f00a9f2d5e8d phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6098576e-ce74-476e-a3f8-d0b1796a5f15 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04c815e2-d3e6-4d17-98cf-a51574b49c4a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acea1d1c-4119-4dfb-9235-416e52e2f1e6 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1cdecef1-4399-426e-b7d0-03c45cc70f51 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1b90f46-d7bb-4766-af3e-ec764485a662 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36a78862-477e-4c88-9ed1-1068ddb330cd phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6c366b7-a4f3-4e9a-8229-35a633d48b4e phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7761caea-c49d-4b4c-9672-900054f72262 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2413137-1c03-4b7c-bed0-c328cb00eff5 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a91f36c8-32b5-4f89-b3e9-0c410efcd1e9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df05ee4e-0c92-4c49-9d32-2c5f898fb485 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4f798b5-478d-4038-a386-e94ca7f85fff phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1059acb-cd35-49bf-84f4-ff754fc51369 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47b1a332-b7e4-49a9-abad-b5ac14b76746 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:907300e4-2205-4188-afee-2a8f9e6bb5b5 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24d45b89-79bc-4fca-89fb-d687f0f536de phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5735c43e-b3fb-4e34-bda0-af7d3f9fc943 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e413d94b-e378-47cc-9f67-371aefba0820 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f8543ec-cdda-4f54-9592-9e8433b8bfe9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:716d7a62-aca6-48bf-aef5-5b3c1d4711b9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9b88652-6ec1-47fe-af0b-9f3710a9ccaa phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0aa1f1d5-21a5-438a-8863-add900222c50 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ae5cae3-9714-4781-9cbb-5eed4c8cc700 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81bddbf5-2a27-49e9-a4e7-8129f95f6812 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50d54b1d-c87f-4dfe-8d63-11d03f9a0ac8 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f01f0c8-96ac-44fd-bb80-cf3f7deb2dd9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed4ed9ec-1282-454c-b22d-718fff09758c phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23a8222d-3d64-4fc2-bb52-99cb9e22a72d phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d86bb6de-2788-42eb-9140-66475aca9021 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d4b4076-2ea2-4855-9aa2-0e4c6969400a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31d88941-7c0b-467f-bae1-052f211347a8 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0104ec6f-d70e-4852-946f-c53681872852 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc6bee4f-d4b9-43be-90ef-b3cd4bca812e phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee44f5d8-5b75-4634-bdfc-f9d92193bb31 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e58253f7-da0f-437c-9333-dd92d7facc1f phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1de72867-044f-4aa7-bf15-24446d0aac48 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15573be7-1340-453e-80f2-e9d16768fa5e phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a78e06a3-cc99-4896-8687-d53cd8df3943 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef3b05fd-1c71-4840-95bb-22150fc0f564 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ee5436f-42e3-49b5-98bc-2333f09a9022 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec044bbb-6072-4993-89cd-1eda8da0bdba phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efd76ce0-368a-4c27-8dc8-1bd572b1030a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03daca69-b07e-45b6-934b-f6114bdee0a1 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:043df995-1456-4f7a-bde4-08ba5cad7f81 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a1a68c3-c693-4a2e-8add-ae77f9ca603c phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6641d153-20b8-4907-8c83-de0770d29908 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0f7d598-979c-4c1d-b875-eaaf540e7405 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9f33c64-422c-4d02-9221-60cb0717c9e0 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e5604ce-d40b-48c1-8388-93da449ec794 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5fc1e6b3-230b-45b8-9f0e-9a96582f7e90 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7095ea86-ceef-4a0d-9f79-7d35a3b8d06f phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c0a9bac-b64d-4cf6-b1c8-7931a19a431c phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b4cdfcf-57f2-47c5-ad9b-09e7ebcd8a93 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18dab286-8ef6-42ee-b3d3-fb075290fda7 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:190019a4-6867-4d71-a0cd-017dbb367844 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6efdc292-fcc8-40fc-8c3d-d811bc768e4e phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75e200e5-81fb-4ff4-8757-139df77bcd6b phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b343cef0-e455-47dc-8f96-e0bdb2edfd45 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb211e3e-d60e-4f38-ae3b-970704ee0dc6 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e288ec9f-477e-41d1-bc50-b3884959023b phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83bf15a5-d599-4eca-98e2-ed8c36ff1bd7 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da356336-286d-4a5d-8d65-0c5660ee3109 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6d92db3-c908-4bd4-b7fc-8cdcb0b28b08 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27f7ed05-e19c-4c36-8114-b955be857833 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6753b47b-67a2-49fd-8634-02150bc2fc24 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c904328f-9a70-451b-b179-944e3a909c12 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3158a0bf-a55f-4843-8363-b6799abf9713 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f1bc5ab-64b1-435c-bd94-0259ef135aca phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e80c8522-7113-499b-b9e5-a2a43871d1d8 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a72de740-85f6-4af9-b693-b83dad9fabbe phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6f1cfb1-b95a-4099-a56a-ce77ca6f0807 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c53d37d-794a-4691-8920-2c6b1d866795 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86bf3fb4-18a1-4fcd-91f3-f6aa13a73b41 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8722caa1-89b3-4207-9525-578677203595 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f25af8ed-f627-470b-91c7-94c32d6c28ab phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb0da2f1-4b5f-49c0-bb35-a9eba4821fbd phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70a38571-88a4-42b3-a7a7-34cc50e65150 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbc661f5-a2f8-43b4-8eac-5f052eeabbbb phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ca7860b-8677-4d33-9371-e5d379e0c30c phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d3c4719-0d08-485a-a111-eec081fff7e9 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50ffeabc-6d6f-4003-8dab-bf0145a0b43b phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:068d006f-47bb-4b26-ba05-2dc96c87b04a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:231754a1-da42-42fe-a66d-4a82a2fe0cc7 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d2f3270-f1b3-44f0-81b8-b6ee059adfdf phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:691eb7b4-ca0c-459d-820d-97e28ee6c13c phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84ccaffb-d4ee-4769-9e8e-3de7e29d6aa8 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62aa2ff9-5826-4008-83f2-ef3df5bcf443 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a012ce19-63b0-4fe1-b693-240954f536c3 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9c08ea6-a18b-4fa2-b419-d1fe5f323c8f phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3af28cf-a4df-4006-add3-bae0dd920d17 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72f36143-24d2-4892-ba79-fa60b03c2de7 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d237275-5eb6-4555-af04-000a2581ba48 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a36e200-6647-42c0-afd1-c22fc81bc682 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d475c63-7573-4411-a6c3-74a0ee67ba95 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:657f82e4-4438-4a80-82ba-8e5c6680e64a phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08d2fe9a-c3b6-4a53-8042-13f04b844255 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P4Y10M infores:phenopacket-store PMID:37962958 uuid:a22152f6-1e61-4d87-86b3-ba1efb7879b2 phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:eae74640-6ff6-4d0e-b5d4-13a7016dc202 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0766fddb-558a-49ec-a14c-2923cd9ec4a8 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0b58f9e0-df4f-4b52-b93e-e5e65cfd4f94 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:90d1dadc-c628-4b7a-a4cb-70f22406be07 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:432b99e7-84c2-4442-8e65-4ae3b0f9edb0 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:690980e6-f8a4-4f85-9103-056f83bb6f62 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:68155806-d867-4df6-ade0-b346f256bd89 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:42c5dc3a-a6e5-4b77-88c8-e3d5e9106476 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d961c49a-4307-46b4-a0d7-12a70fcd4b9c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:85752557-b92d-4776-b884-e51c1a4bfbdb phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:96cf7864-8741-4f9c-b9b7-7e6a2f946c7e phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea4aa449-cba0-4b93-bcfa-1d1d47b26685 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5e18c73-8db9-4646-baab-36d15cf14f4d phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd073d7c-6be4-4fe9-9a2e-d349221c39a5 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3469c1aa-913b-43b3-8fc7-7a5ce0d9d773 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8355b10b-461e-4257-8843-ec4ec0ec177c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2c51c4f-f74a-4a46-a8af-eaed4da26649 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bd7b84d-48ca-4b62-a813-b7b341dc480e phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b1eb831-4dfb-4c80-aaa7-9f0bfdb84d89 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4894ca99-0a04-4b5b-8a95-231deea553e2 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b301a52d-6387-4855-812a-8c3ea52326b8 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb680a18-ea1d-4d98-b87f-ca507f9fdaca phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70699715-ad7b-4e56-8002-ab90dbefd33b phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a34d725-0b95-44a4-a15a-c512ef1e9430 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00287429-ec2a-408b-825f-e0efe892d7df phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f34389b8-0507-4a6d-8a81-1bf20628fba3 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:706952cd-f4f1-4fdf-9422-744e404cbd59 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:526eacc0-6d61-42f3-90fc-ebea7f757dfc phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a70a791-2a13-45e9-a0a8-3b813cf48c63 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ae6c717-730e-40be-9405-d02b0b331456 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7444bead-0064-4ef3-98d5-f5262a55f1b6 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46e392b8-4f57-4a42-84c7-06248c465e90 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aae02eb9-fe1c-459c-b988-b92932e52d05 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fbad2da-3ef8-459a-8406-6f9008412ad8 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:547c0c7c-691b-4a04-b55c-f5ff48293a2c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:321b5b01-4087-4b1b-8b74-fa22dce43ce1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1747ab0-3d00-45a6-9449-f680855f05b1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35a6fd67-be0b-4482-bcd5-0e6c4b0b2a90 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fdc8b8f-7d6a-4fb5-aaf6-a6e1f326fd77 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:adb2de23-9b15-41db-b7df-b22b4cf6db46 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3fc2a50-b812-43c8-8962-e4cec56c80f2 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7abfd51-2d0e-430e-9901-e9a3e26c3729 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ff1b2bf-31bf-420d-aedc-d960854e8137 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d43711d-b55a-43c2-a97f-e770aaa979d7 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09ef009b-e345-410d-8e78-a5b7cd3771c6 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dccedd3e-de9b-436c-ba24-dd800baaad3d phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc9c01ed-a05d-4632-9739-a1d28b5bc0e1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eaf1e182-bad7-4593-8250-26a3ee8b1409 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0fb8d095-510c-4170-9468-5bc3692ebdcc phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47d56beb-5af0-4db2-996c-31e72c3c142a phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29a04a4b-b100-4eff-9306-5c6b3f52c751 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bb494af-9296-43d8-9875-5eb104ed3a6d phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d906c5c4-baa6-40de-a450-4903b7ec4441 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9edded2f-7213-4194-8cbe-2daba0a1e26b phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c125aa9-e37e-4ee0-bdb3-fee300056747 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d90d870a-3985-42e2-9e8e-765769572456 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:462beae2-c318-4a3b-96c7-37f26cdcb1e1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84419053-0b7e-4dfd-a287-e9da4492e54a phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd3086e2-8b16-4f73-828a-0616a97749a1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30f914fd-d602-47e2-baf3-b1805f71914b phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76baa918-7e4b-4b22-ba01-108d24522603 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2328692-f1f3-4d3e-8740-74ce00471209 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7368ece8-c78d-4b50-9add-18ec004961a1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a24f130-4ae0-44d7-b5bb-3ae4fb8bf0d4 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d455dd00-4420-45e2-904d-6ea62bad16ba phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a78dc72-db4a-4e60-addc-ffc0c96ce9ed phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63054d90-f6b6-4c15-991a-f20395244bc1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c7090d3-da93-4971-ab64-6f4eed45d998 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21f2545d-ee91-4069-876c-dcc59284918e phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:311990b2-9b27-4b2a-b069-f2d192fe6f03 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:481c7ac3-205c-412d-b7d7-1b895c3bc316 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a414f6c-c247-44e2-97fa-2164d04921fd phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6145697-4822-4c29-b2be-39cdddf8b7b4 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77b9dea1-0bfc-4307-baf4-33a7471b2c27 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a41c62c8-4a46-4549-b046-6ac96c60e364 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:069744cf-7c6b-45a3-84a1-cc2b8b70f45f phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ee42abc-b691-4572-a335-6d58bce530fc phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d4c6bc9-7cdb-4b56-ac98-b0260ce56b42 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35a55ec4-8a4a-4e95-aa9e-52ca3a1d011f phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bea86b96-a2df-4ef0-bf3b-ade760d6b2ad phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e720a45-3049-4180-a735-67ae67cc3080 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f59a6cb-25a7-4081-b4d1-0cd6cd1169ed phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08e0c383-b848-4ca1-8cf7-b768ec502dc5 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00800c67-e33f-4cd8-87da-5254b59c8f70 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce555cdf-5d2b-48d0-b14b-9607520e9070 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89fe7341-67f3-4642-8925-c1105a662f1f phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca3159a2-6e5c-4fa0-8698-a38a4961a9e3 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1a34028-7ea0-4db7-82c9-4d84264996f4 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2d91e99-4228-414b-9a96-f6ba9f15414c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca3dfd15-1039-48d5-bf23-012321166805 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5756a342-df55-4a7f-8e6a-c70202c25758 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b0a3514-520c-45ea-8b79-70cab46dce11 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d4400db-38bb-4de8-b5ee-2b8c4e7b73bb phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:773dbc89-2813-4224-9369-99114e40a2cf phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4683d18-1269-4b62-b872-bf104bc3c6a7 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da9950a0-3d87-4797-8f0c-f2908ec11734 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56d809c7-7788-465b-ba3c-a8c2d883108a phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c1637c4-766b-4e5f-b0b0-cb39cc509d0d phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61d4f436-64d6-46e6-9621-b19cf2b9a951 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a6635ef-e8c1-413c-b110-c164c93e0e64 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb38bdb3-59a4-4579-b84d-9577bf0a79bc phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8016e3bd-bea9-497b-831d-01899e2f30f0 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:909dbbc7-12bf-4d47-8fe3-23428aa47732 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12bd47f7-56ac-435f-a09a-61d1045f8624 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06436b1a-b73e-46f5-8ff4-c2b011c292c8 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec9b0958-5dc7-4748-b181-898c760acba5 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9894dd15-fb02-41f0-8d23-22e96a1ce8b5 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87ae36fc-bc84-4802-9921-513d588536ae phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4e6b389-6803-440f-a2eb-2c14e722c07d phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86b88075-a688-464e-a4d8-ab1df2ddef0c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09c0d68f-1bdc-4b11-8153-841dc1d5d941 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8eaa9210-47e0-4dfc-980a-8900c28f1650 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:847637a5-a73e-43cb-8893-57141a9d8e9c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86eaf92a-2e4e-42f2-842e-1e242ff288a2 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8148d7ed-da3f-45ff-a96e-c981affb2aa7 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6fffbd1-5062-4686-9854-425bde560102 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72b07a62-9fd3-47f5-8778-602270e0bf69 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d238cf5-f530-423c-9076-cef6915627aa phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a072f40-8485-4d73-98ee-ee174b6fcee8 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:578c3930-32b1-4d32-8c1e-72f50c41f473 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3272a7f8-c097-42af-ab66-95d49390249c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:156cdfd6-83ea-4916-bbf3-137295f90b3d phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2462ad6a-f1a9-4c77-b3fb-83bfd3f0c4ce phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5fda3bd-516a-402a-b52f-77f914037104 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e210e41-ffbb-4d57-a402-93305d88652c phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d9661fa-47b2-4fbf-a420-8a8edd59066f phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bcf1efab-2f72-44e9-80d8-b7c967dd58cc phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5bd35b1-a52c-42cd-92b8-692251babcc4 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2138293e-e76f-4b30-99f6-62f6fd03741b phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71cf73e3-d9db-44a1-abe2-de12013ba927 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e4673f8-2e31-40bb-81a2-a79709dba784 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1898a0f-7a9a-4cf4-bc8a-c08d58187172 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20a8b75e-3f24-4deb-bdcf-fddc57b1c090 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9337d4f-bca3-43c3-94ed-f5f82e4da3f1 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad265b61-a3fc-40d6-acfc-25fb9b243734 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6fd0c512-345e-49ee-be75-ace8c0173bbb phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a2225d2-7d4c-4735-8691-2ff4a887cda0 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce04002e-2da6-43bb-9838-7880eea7ab9e phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:d437c855-3ac8-4676-8913-a00c892cc393 phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:f5ced12c-168c-4dba-812a-a49cd760e4d6 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:93022018-d12e-4d0d-a65c-157b6362b062 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:37962958 uuid:0788a133-7982-4c28-bf06-bc298e9d63c4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ef1d6442-286d-4446-826f-030c9a010cdc phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8c5a0144-1731-4f7b-953a-65b833163f49 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:35c62225-cf46-402d-9495-e7538fac5cae phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:77960327-6dcd-4075-816d-0652da6d7cbd phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:932b1ebe-a8d2-4269-b833-51f6ae152471 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:310a14a0-5498-422c-b999-e9d513844a57 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6448a0c1-3452-4e28-ba5a-5ffdd4dd5486 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8d45d8be-726d-4dc8-aa97-42a5b738efd1 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2e17db8f-d22a-4a22-af45-07d8bf6ebde7 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bc81faf7-e9e8-4f46-8302-0ebc92f65d32 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:de9730f6-8a20-4850-829a-c10ee537ec8b phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:75a1845b-b75d-4fb5-9777-340b23af49ca phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e01b58b2-29f5-48fe-94ec-2f14a182e41c phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:98249403-dee2-4de7-97ea-7febcfea714a phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fabfd0e9-1643-4fa1-9746-1444aab4c130 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d0732312-2980-44e8-befd-c837c1f61b0f phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:486e4f56-5a66-4df8-9a4a-e53698360075 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d878667e-478b-4738-8230-3902f614f734 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4879e8a8-b4c6-42a2-bde7-647112c232c5 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b06f62a1-3969-400a-a264-bd93d88c4903 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f974de2c-10fc-4095-844e-e0be0be292b8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:472f7398-3225-404a-b554-6a3978df0196 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61e38ffe-52bd-4cb5-b791-d54319d66d68 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57af0070-fb9e-49aa-ae88-5d3389951f43 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b89a3e18-32a7-43ec-9780-f95197d1e5a1 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31246462-1ff6-499c-a119-34d801d29771 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ed17a85-84d3-4058-a113-0e5881bb80b9 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d2ad9ac-6456-434a-a5e5-5bb5f014d2f4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d614dbb2-a452-489d-ab0e-ec3490ea0272 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e229932-708e-4ddc-9b38-c15a537597ef phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c23d2a30-141a-4f2e-9b6b-9928c8fc7a2e phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e71aea1-1bf6-40c1-9a71-e9e36bdc9e4d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0dd25e91-c886-4349-b9c0-6b48d8c54254 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:506e9f86-41ae-4c03-922a-2078693f618f phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de4309fa-44b9-4cb8-8b95-6d0d35bd0c97 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ffb07fcb-325a-42fd-8fc5-705f2bb1188d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf79277a-505f-4866-9061-b1e63cc1c152 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f5b84c9-ee8c-44d2-8700-88d5d57d7822 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e87ecf71-2908-44ab-b9bc-dd497cb6b455 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51c5d1f4-0081-4919-99e0-29fa42dc6f9d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf5fe2dd-1838-4031-9103-227b72ca9bbf phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ceb6ca8-ccac-4250-af77-1287b3f285bd phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e0678ac-732f-429a-ba83-5b5b5a0bed7b phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68bb2041-74d1-42fe-9c44-93e089308820 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7862e656-0f36-46b3-9520-a7dab0916025 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1141eac2-4b97-4445-a29b-6a01c6eaeef4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4acf06d4-6aa3-429a-9601-4db054979106 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5499dbe6-a707-477f-9902-31b72d41d005 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4966b89-a74c-48a5-82ad-91dd43c26812 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0636a022-8502-46cb-9123-63b4c3388e8d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9bff6095-f977-49b3-a8c8-b3f1d77d74e8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b07a4f2c-2e35-4be6-8fa7-726ad50ffdb0 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03c70b49-0008-4202-b42b-edf9c9d0688e phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:774dc5a2-8adb-40d5-971d-98ba10bd8f8b phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82925dee-4e36-44ee-942d-8412f6efc7b4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38e5531d-3eb7-400d-ac40-cff03608ce47 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f85d8b4-98fc-4a45-8650-ff0f7360423c phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24d0966d-a5af-4a07-9b67-69b9c63600a3 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24f5c87e-8f11-4487-be32-73ab66ab875d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7013f91d-a242-4e1d-bbcc-ddf8137d951d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a744f24-2236-4d34-88e0-74e48bc857af phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f279e19a-4236-439f-8342-564fef345299 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de837833-c7a3-4869-ab5d-fbd7215378ff phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5db8dd1-1696-4810-af4f-91c5098515cc phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b79e1ac3-4554-4143-a6e8-da96fd0127c7 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b461e1e-39a4-408b-a6b3-5f4774c1291d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93fc1620-110a-4b7a-a2a8-d1c2a436a21a phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7dfce07f-a01b-406a-9e36-814f03ca24e4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79a30c8f-7841-4773-86e2-d76027ec9496 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:763cea5f-10f2-4086-84ff-2f7e38d28b1c phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ad65325-750c-4604-ae85-0d8c9168b719 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:323d0578-d52b-4a1b-b89f-881b862c5ea1 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18df68be-0672-4b2e-9654-8bc13390f6c2 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d77ff58-51f5-4dcb-bd68-102e286f5871 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68ba304b-a7b0-4764-bf09-b1d914c45b36 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55b2763f-b467-49f1-8606-1bb260093ceb phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0729434a-ad78-4947-a56f-7466932452e0 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe3ee785-5f6b-4254-a1e7-d8d7435e7030 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46ef3657-0872-42f6-9a21-e74e1f2150c4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dded1617-7af7-4499-a41a-8e1c090f765f phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b37e91ae-7a42-4c26-9812-a9e17a5465c3 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c28da1d8-0774-40eb-8417-003563f85b1e phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3376cb4-82c4-4bb2-b2cc-e5e53c8bc486 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb3b25c5-d07a-47fa-aa29-aa3f754c81ef phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fab637a4-e0e4-4135-b4b5-ecda3842b10f phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d3762c0-ae85-44f2-8df5-90ab6a737247 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c983923e-1941-4d8d-8273-b3f55edce540 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e8049c2-5ff1-4542-973f-e72977221f78 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:baf42cf0-1da0-475a-b243-17661c8104f0 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd1831e8-d4ca-4467-a433-8069f08e0517 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1f5fe64-0a03-47ef-ba29-379bd8028078 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:454193cc-00c9-4ae6-86e6-2043ce951424 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f07009d-5e91-4098-bcba-f961e4749de0 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02e7d931-bbdd-4909-bf98-bdaef3e33f3b phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c83c985f-45ce-40db-a5e1-561088a3f184 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:412072bb-4514-44af-a986-ff711bd0ac67 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d64e568-203b-4cc3-b8c0-ce757aa00a8c phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c528a129-9f0b-4dba-9476-044e4c9eab95 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94924e58-e27a-4df7-b0ee-4eaef0184c79 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba1a90b9-fec0-40b8-99d4-5e2cc0d9f153 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a156e2a-4f7d-4a14-b397-c3dabcb73f21 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69a77762-67d8-4b6b-9dc6-1ca7992b8652 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cf5dadd-5e9c-48a8-bc49-2f2141e17e56 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20d97b12-0b64-4b4b-8f61-fc0a1b7f2014 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8adce79-4863-4fb8-9c3b-797abc6b985b phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d57eac7-7550-4dfb-aa92-2160ca1b657d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5846c215-6854-4e53-b810-5ac8b0ec7650 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dacb7a33-eec1-4c37-b41e-a8afc9898469 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ab1cf1a-3345-424a-94c2-ec776bfc0490 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed3175a4-b25c-4db2-8a0d-841c1ec998bd phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfc94103-c272-4a83-ba6b-b93548597bbe phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9bc52b3f-7da4-4b69-9842-66e6705a5155 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08697e40-fc24-4ff7-a4d0-4ffea4dde0e4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbd100f5-0b65-492d-80d3-e3c381be5bd4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b8838cb-dd20-4a86-9746-f977abf1eade phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6434c525-1894-4b8f-98e6-4b6d3a993f05 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92c9f839-ed47-401b-87ea-5db4217c22d9 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c79a33ab-13f5-46c3-8ab8-7a1ac3675ab2 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d43594c-adad-4e00-a4e1-9bcfe3247198 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9dd132b7-fbc3-4f7e-a27e-c47842847ec4 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ae80abc-b849-4501-b6d3-a253517098d8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a72153b7-056c-466b-85fc-7ca0c4f6ce55 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3a6bf6e-9e5e-427a-abd7-182c559e4112 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42bcacb7-9986-47bc-a4bc-68fa2e109038 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d60ccaf-a0d1-44cb-877d-c99a561f7a43 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c8049d8-db45-45b6-83c6-6c970b08d2bf phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd6d7543-8df8-4b50-afc1-1858fd89a75a phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:143bbee1-8caa-40a0-96ee-fd017a0ed52a phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32065d16-c5b1-49e9-8bbe-d32849aea159 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:153582f1-4457-4cef-bd2c-479bc86d6dfe phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35fffb9b-b76c-4bd9-9812-d09c14bee437 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0aafb04-28f2-4777-a1f4-9267c29898fd phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a2d37cd-dfa0-48cb-8f3e-3fce56e47de8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce827282-b9fb-4650-89e5-87f054dcf05c phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e31c88d2-3b34-413e-9dad-73fb490c4126 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62456c9d-1d90-45a5-ae32-ff46efd44de5 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:603dea12-0564-4801-b419-8f28829e92a1 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4aaae84-b135-49bf-86b7-afbcba53a953 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70aa787f-bdff-4d2b-8a62-a636734fd13f phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1890ecd4-de26-4837-9d39-a2a700ff0583 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6736e22e-e49f-455c-9699-5ab58d4eb7ee phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b9ca0ac-305b-4958-a1aa-6b6becfeb496 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e61f0ad-e374-4a9f-831f-31225057046d phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94b12b04-4c1a-4d16-b5a3-0fb3ef4bbd8b phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb42a466-8dd9-4874-b002-f045cde6dcc8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86d66a7e-4026-4957-8d62-6effe07e1833 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2eebe84-adf3-4844-bc4a-473932d9102e phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b64394e9-874d-448a-a34c-f9297155392e phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3df74a5-0926-44d8-b403-43a8f4732271 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31ca98bf-9f45-47a7-a46a-e29e11f4e345 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b133af82-552f-4509-9f3a-376aeab0c4c8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:536b9ba0-d2cc-48dd-bd2e-160c5d9bb3cb phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba30b5f3-3dfb-465e-99bd-72f8996b4f90 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:067380ce-0405-4ee8-bb42-bc7486e2789a phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3341f36-66bf-4f5a-9e8f-cf31c832799c phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b73ad74-ad66-4117-b6f0-9c3b71751e68 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:37962958 uuid:a570cce5-7d2c-412b-88e3-476b4dd517b8 phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:2d92e8b2-d26f-4bdd-a177-2c9a2367f1bf phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f9059a8a-9c52-458f-a073-6a2b295a51cf phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:31251d9b-c6cc-40e4-953d-44696a27cd6e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10M infores:phenopacket-store PMID:37962958 uuid:cf8874c5-cee1-4884-9672-4053a774c81d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0ff30780-84b4-4a0d-9d3d-ea0e60c1b370 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9c360a14-8c81-487b-a4ae-6ba9a01b3ca9 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e44d886d-9f62-4d4e-a932-f18fd4d0b18e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e47f8c89-f8fa-40df-9d7f-ef4d1a2f31a7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4706c821-e7b5-45a1-b65d-7f4b9c743d16 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a96c6770-9ba5-4364-81b0-5f63e5a2771d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cb098971-2ac4-470a-9bbc-0a6d36ff63ab phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bdbb8592-c951-4600-b7f0-2a59f7b0faed phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:80e7ad1a-6124-4bc2-8ce5-03b8265db54b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2232fb60-4923-4eee-b0ee-c1da7688b9d5 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7cb1cb19-7ef8-4383-9fe1-c71991a6d840 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c48544bf-e99f-43ab-a29c-5eaa6299ff44 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6c13e4db-64d5-4814-af8d-e25327745366 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:63ae1923-d789-44db-ac31-ee3587aa7209 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:89302d4b-0936-4b42-8162-e4b4afb921a3 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3c4d536d-4955-4334-b884-36c376093cd5 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:abae2fed-fa2c-48c2-bcbc-6d7a3df7693c phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5c1854da-d73c-4461-a3f5-38537fce862e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3bf09924-c3cc-4035-8384-02b5d4c6958d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:70ceb251-76c5-4129-824c-2e860a2cee63 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a5634e47-358d-4ae5-9cde-fd782a4cc658 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4bba4fa1-1256-4e6b-8663-f94c5c75ae48 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0f23513-1fd5-4836-90b3-de80939c3d8b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf1b5e6a-8f54-4811-94ad-2fd9d5889a1b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d57fdf3-99a7-4f98-90f1-1d9b71079792 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:247b4e42-1ea8-4e62-8ed1-9944008aade7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80f86c60-bb2f-4e3f-8786-5cf03d8bead6 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01f80c6c-b0b1-42b5-964e-f4e13b0a3e2d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa98e7fa-3421-4352-816b-6fa09706cbb3 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65e17141-6cf6-4968-8946-a15b08cd5d34 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0243e8b0-7a96-4933-ae54-3a52f5c3df61 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dfcfcdf6-91f6-43d1-80b6-bad8494c2ca7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fd585b7-0701-46d1-ba30-ba2ec6b49911 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d30b7b9c-e484-4c8e-80b7-3f1e5e73e918 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be546c30-0909-47db-9b2f-85791c6ce0ba phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9e7dccf-a3a4-429d-b2a4-87659251e493 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0cbe21b2-b917-43f4-bb64-7a6bfb9d68c2 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db77b60a-4b64-469d-8196-5bd23b66ee5a phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3937b71e-039c-4c27-8d8f-da54c574f9f3 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36d042da-8275-44e0-ab10-0127e1e23f5c phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d95cd74-7694-4ac2-9325-104ceb015fa4 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5686c8c-1643-4128-b74d-139390a887a8 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b21abc6-6616-4d09-b481-b5124719bb50 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a3675da-640d-4456-b600-017f26ead98c phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b55d521f-ac41-4ec6-a89c-b0e090a39244 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:223469bf-6dd3-45c2-a57b-2a08bbd15574 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e9c63cc-80c2-4e11-8449-88ecb08daefc phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a49f95b-c61c-44ed-8c1a-3e9fb5bfe12d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cf71655-6dc0-49b1-b321-ee70ea8bfd5a phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ffb1674-5b50-4812-8b9a-8c58dd57b94d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba660391-042c-4dfa-97b7-4f5f9479f07f phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ca3a8c1-683c-4a57-b89d-7cb8b106121e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9035a19e-8385-4df3-b90d-33c195d2c56a phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24590d68-002e-4b67-a982-8396dfcf0812 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b587f115-e472-4e3b-b965-d9f4143ead1f phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:633825d9-6d33-471c-8016-55d0eec89e8f phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84af148d-64b0-4ca9-a9cb-6f979480ab2c phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0abb891-2665-40ab-91f6-136392e629ae phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:060e2ce6-9c9e-41d8-91ff-b1fba8db1c68 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5b33c2c-663d-4651-8d33-99f76537d53c phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53ad30a5-b642-4661-a44e-3a0e0557757b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75575fed-ed98-4c02-b50b-10863b793449 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4de061c2-2252-4312-b6f0-f90696cbc89e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f15f7394-15e8-4f27-a17a-c7e9e5dede1b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa87c5d6-50cc-46a4-a307-3f8ed6773ba5 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fe6c527-ecff-4f90-a824-5ee82cd54990 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d811409-7c52-4598-a67c-c1096f218f7e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7638fed9-b5b3-4f7a-8ed5-825de9008c42 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f86c4a35-a8b5-4bc8-99a0-c1c674a37b80 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:624e6d8f-5e4d-4f58-acf6-fb0ad8b8d3f0 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a55641d-bb50-4b73-95c3-ec53695a34bb phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:711e3bb3-9891-4d87-bb83-e3394802a530 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:295888be-f2b2-4746-b769-d1ed238c6392 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2fd0d480-7cbf-4f42-a5f1-5595c984cbc3 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f17cbac5-d398-46ce-b0b7-e50593e4b483 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38bf8bc5-3e1c-4729-af5d-89a70ce74e09 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e405fa7-849a-4a8f-b7b7-e680c98919b2 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a07c9de7-f762-4abc-8df0-69f8078aee9f phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58c9df45-ae65-4b21-998e-f6fe4701f7b0 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca51d3d9-f6c9-4dc9-8bc7-e607893113f2 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fed57aa3-f23a-409b-a1ae-e13ab7b6bdb1 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de1ee9f2-0be7-4e15-ace7-560d02016dff phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c437921-aee1-4fe3-9421-a2d85178ccd7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:581e7ee9-fc71-43c7-b8dd-418bacfea9f1 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9c7934f-7023-4343-a8b0-03eee11b6ee6 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac02d931-365c-4998-92bf-4648399b0eb7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97aa10e5-f74e-4426-b00d-a4e9141e1f64 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69dbf845-53c2-49ed-9a53-b7a0bd66e362 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ebdacb6-02e4-43bb-945b-de1cacb92c3d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e77a432-ed0c-4f5a-a5cc-ffebd5d6691c phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8493c36d-a60b-4939-a171-b932710f029b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:394e9902-7d84-4e25-b08d-48699e6723a7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0459b5aa-ad7f-434c-b7a9-b1be0a70e75e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8e00f91-0519-438b-aa26-89ca322ec448 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18159fc9-fff3-4f3d-aaf1-7df603f657cc phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a62b6be-2c79-48ed-bb4e-2fdb3ef3e002 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08e5aba6-98fb-4de4-8613-4d07ea5a4908 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb0c911a-ca70-4b7f-8ad8-3b80c23f702d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c65b2d3-d57c-4924-abd4-9a6b53129706 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0aa7869c-291b-47d3-abc8-d73985035ee0 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55462754-82ba-4f7b-abfd-87b8d59d4775 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9de80fb7-2e38-4024-9025-cc5bf5cd99f1 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb6e6d9e-c1a8-45be-8ad0-17f4350cdc45 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f22658e6-d83a-428a-883c-abb550d198ef phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:513e2c5f-929d-4f3b-aa19-59fdff7837c0 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09f179ad-3419-4d4c-8fb9-797987c0069f phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8895faf7-1a43-4790-bf51-f8b81dd96700 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efcd43c5-399d-4fbb-85e1-4ccd83aa2e7f phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ff7f595-6136-4f71-8b99-f894014f8635 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c26d32f-cdb1-4d97-8ae7-6b577a388f63 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25e4138d-f357-4ebf-a77f-341a11d2de94 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4394f03-f133-4c5c-809f-683e9a34f1b7 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01ec47c5-663f-4225-ad37-9aa91e6a2265 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e27c241-f248-4890-8c3c-41c7478363a0 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eba118b5-167f-410e-b0f4-b3a9d2d47862 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ba7d950-485a-4acb-a504-e7be7eaf2a42 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:887a274c-6254-4ebd-885f-2ddef4f5e8c9 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:022664dd-4480-441b-9c8b-a075644eabc3 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c4d9d00-2794-4033-aac9-86b5796e7f15 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3fafdb6-5dc5-42cb-acd4-14a273917409 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79e394c4-1350-4019-b4b9-5c5835afa556 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bff632fb-a657-4b34-961c-3ac5e754fd3d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:136216e6-8669-4746-a0e1-c7bf1202f886 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84cf57ad-5ac8-4813-99cc-4d3dc8b85bc6 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68b0d9b7-68bb-44b4-a165-1285ba22912e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6726343f-152b-40e3-8c24-70564cf6c08e phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba3470e3-2a9a-48af-826e-4f57732d8a92 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6f90671-a38c-484a-8f27-a38049c3c41d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6865bcc-1eeb-4bfa-883b-5812b975ce51 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77a0b6ee-d1de-4cb6-a042-318a70a9ec23 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59159c9d-8e36-4ca5-a255-455a5444c5d9 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dba355a3-643f-4450-88d5-5292b3c52239 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c53b509-7159-4c47-a633-2313da6fa044 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:785c9809-c0d1-4de9-91cf-df6671066e5b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bfd6d14e-9b96-4b4d-842d-3014c1ffccb8 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79feb36a-9e23-4748-a21f-4fb91cbb776b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3739f21d-21f9-48b1-90f1-4515e9e2e30d phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5767d80-ea24-499b-a43d-40d620c65303 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8e2f4b6-b6cc-4a77-bb5c-bac0ccfbab05 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75467cdf-0e13-4716-8022-b378eb85a6b8 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49d5a52c-9063-4477-9eac-81dd1a272548 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de63651c-ebd2-4348-98ac-9eea39627609 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d72b653b-1c43-4896-a6ed-761a7f5ba869 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a418b598-1f01-4d67-a261-cabcffde7ac4 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e614463-ab35-4e1e-9bbb-da611a78366b phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a91c5de-9a2d-491d-a5a6-4db015866db6 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f477a4c-8c9f-4c09-a2e8-a0479c87aadd phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a2b31bc-5cb8-45be-87b5-f6f1e1b8dabb phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81bc5f52-bb98-46cb-b595-9abfbee2a18a phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5d93856-1afd-42ab-84d4-786bbacb9231 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf0e21ef-26f8-4480-b2bb-405079c4fada phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56056edf-72d5-4f15-876c-3b064dd8ca19 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:37962958 uuid:67e0d57b-7430-4888-b432-84b1f77a0684 phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:39f70d1a-b2f1-4977-a61f-58bf15bb4164 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:a13a0dd3-b5c0-49fa-8125-ff1c60991201 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:073f19a0-1a3b-420e-a9f6-9ba90855713d phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:8fa67c7a-0401-4c94-8bb4-fd071543a967 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:11b1b2cf-439d-4a0e-b1cb-6dde604bf913 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:af18d5c1-1de5-4701-a0c8-6321af092288 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:c2f73e09-34a5-45d5-9103-bb26705a77ab phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:e769292b-df33-4590-b075-87f8be58ea51 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:ec577bb6-0a8f-4da8-bbe7-dc92faa9df57 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:706189ca-6ba9-4f8e-b74d-2b8191f73be0 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:9aee65c4-6a00-4b1f-a082-e813280e13ac phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37134193 uuid:5608bb30-1df2-4153-9a53-f272f233d9e2 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:85993a79-2317-44a8-bac8-78b0e72bc7ab phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:c536956c-2815-4f24-9866-0a9f6dce6e3d phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:6a2540b2-0be7-47f3-b5bf-03669a2df88e phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:5c6648cf-755c-4c24-bae0-443102dd5297 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:6e8b58ab-c225-41ce-85b2-ba9b6ff55b89 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:f994b364-47de-4c58-b827-b6ec089e973c phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:deb058c0-c6b3-477c-810b-ee542c914c0d phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:56f80bf0-0627-4950-a3d3-c32d533750c1 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:af27a137-0c5e-4386-97fe-defa35bda7e0 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:a90497cf-cf72-40ed-a1ab-91a75e61d5ad phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37134193 uuid:bf76f0aa-ddcc-4b34-af33-675a63cacb09 phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37134193 uuid:53f17939-3025-49a9-9a4a-7675009d8bbe phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37134193 uuid:c967e2ec-242b-4ff2-914b-c34570f3a3cf phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fc585173-d7b5-4a35-9220-4652f7d3a57f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a6e07001-f26e-44c5-9651-643ea7d93c46 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3dd6f673-c7d6-4a72-9179-c19f30fc179b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:67b4387e-f6d2-4ba0-bda8-1e89838bf53b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0384cd9c-3b48-4892-80de-11ad58b87d24 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:06e4d33e-e961-43b9-aa9c-facb61b41dc9 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:286db6c1-2a8c-4704-b314-a77b9fd10c9f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ebe143ab-5a5f-4cb7-9424-a79185cef7d4 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:32443049-c8e9-4eae-aa19-09a068cc61a7 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e535eb9b-803a-45a2-ad12-f43602447277 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7b2d0260-7000-4f5e-8add-fa1c3ae30be6 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e8383da5-4663-4b51-bb78-f7c11115bd72 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f873b931-656e-4f63-9a91-6c5b95af4938 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c47df7c1-c8be-4436-b30e-c65a10a0dc22 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b003778a-3070-4a04-ad5f-b66079c07904 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9d4c4316-619c-42ae-9ba6-de86d3c122e7 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fd26d779-6909-4941-bc22-f0b22f9819b6 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:12366293-3f08-4bf3-a9e1-0957c7655251 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d58111b6-09a8-41e8-8ca3-e82f999fa33c phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67c9d167-c3b1-40e0-8a22-c0147955723f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3bc601e-3ba9-4a43-befa-bca42a304ce6 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f59fcbe-c229-4218-a3c7-090a055af15d phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:161c873c-3748-456f-84e6-139c44224940 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bbf19217-aabf-4f27-893c-ae9959d79c08 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b247182-b73d-448d-9b30-d17a1dd99d75 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3517c5c0-a800-43a2-8f3d-e7b9573bf462 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecfdb3a3-918a-438f-9328-4e6ae4ce87ad phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:362f36c6-a903-442d-96b8-0640a68f209b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b3f05c2-6e0b-4593-9629-545124f08de9 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b58234a-1135-44a7-819e-2edfc11c1859 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1cca76e0-6b49-41e9-a341-2f957224d060 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be35e652-d958-42ab-b873-7c6851a59746 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9dbce92-a569-4222-a33d-fbc579d3ae50 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a67b555-acd4-4dfe-9265-ce2201cb5be5 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb0d8551-43f6-428a-8006-7fd8e8520ded phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ce1e58e-0d1f-48bb-b115-514b4896c2d4 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:824e0c78-da3a-43b8-9e0d-808103f5dbb1 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fd7410e5-fc86-4eee-ad68-1c55bfa2841e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2604bf1a-6d83-4e93-9a3f-27096e4527df phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cea4c10d-b0de-4451-b94f-24ce95392e46 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f942103a-51f1-454c-8b49-090312f6edda phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de870113-f4a6-4114-80f3-a7a503d99ae8 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8926d2c3-7735-4c7f-8f08-bb4d69c99f9f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8268a644-54f4-4b04-9267-3e661be997e2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03c1d06c-b2f9-4e2a-8f2e-b23e321a445f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5886b452-e9c5-4c15-8d6d-98640dde6243 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e563efe-a3af-4957-bc05-e7142eda694d phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31ebde9b-ddb8-417a-9d8f-8b603fae7b6c phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:047bb250-e9a8-4399-b073-bbf906e43dcb phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb924779-9327-4e5a-92b3-d8dc5a952935 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96603e76-de31-4ae1-ba50-6112031fa9cd phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de655c8f-e915-4ae5-808d-b5a4e8ea8b6f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57c194c7-9cb7-4dcc-b0e0-bce014703196 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3a06551-46ca-4d39-84a2-ecedfd807f40 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db390234-06fb-4bc5-9d8a-b3381d698c74 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13299898-24b2-4624-ba6a-c4551ab73d84 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8c92bca-4790-4f1b-9960-4b1f12d85b43 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a10e98e6-7353-45fc-9f3e-3e51d2ee1983 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a989ec86-3ead-4d9f-b06e-e64712015a06 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba98935b-c9ed-4339-9fd4-b0f9f84c4336 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d975b5bb-c2c5-4c94-bffa-09cc61bee00b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:232435a3-7415-4c47-ba59-65eb768e6cc2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f73ceb1-8d2e-4dab-909a-d3891deccde5 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:446a739d-5fc4-44c9-9f16-501c00edf2cf phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:403dcde7-e8fc-418d-a068-c10931e77960 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68c25a55-5f89-4bf7-b25d-46cea14159df phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75fa1627-fed2-4519-9f9d-eb770bc4008f phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5094aec8-36df-41be-b8e9-eba05fcff793 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b0ecef0-1d6f-4af9-ba7d-df2a4f5bc161 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66fe5186-2c58-4f9b-a932-c02f2ddfffc8 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:effc9ce2-188d-4922-bf92-e378ff77de90 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c9a8a08a-8d2a-414f-88bc-9bd537ac7717 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d747ed5-4be8-45b4-a00b-e4d8cb0792be phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c65a50db-3296-4c39-9edb-5d108d389e3a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1544577e-958e-491d-95a4-61d85ac7bcc2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5468c01-f7c7-475f-9b1c-436170af447c phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ff160c5-8c1e-412f-82f1-3587563a0b69 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50b3993b-04bc-44da-8766-c6ee4ce53efa phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b59a17ce-05a4-4f0a-9da4-c0b7626fec5b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78b340e5-d7de-4b0c-b380-c3cbc154a0e2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea6f0fd9-aeac-4584-b1aa-515d60b9ba83 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1dc9c6f-ddb2-48ce-9340-4bed1d9c5423 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79ee08ad-2c0d-426f-8fab-6d2043554269 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75cea9ef-5bb1-42bb-a37f-0518348868e6 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28c36b58-2a2a-4c6c-a949-cb4db2efaaba phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc054ea8-ce7e-43e4-9063-05cf3cb2afc8 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:627b2544-3200-4be9-8edf-5ddc31dfd02b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f50b3f51-41d7-46c3-b911-61bf8fb658f3 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53ce0d27-1360-40c3-a428-6cbd891884e1 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bef8682c-0991-47ed-b0e7-c7c96c8e1a68 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:127d97e6-d0af-4f29-933e-69368a823128 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:caf224d4-94db-464e-bd82-c5080285e226 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75544b36-18d6-412d-8852-2d6968bbab4d phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ee03db3-0394-428d-abe5-e45b548bc99a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b0b31c1-8e6a-4660-839f-8637dee7913d phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1dff6306-6c91-4e1f-8145-3db62ff26938 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aaad5520-f7b3-46c9-a0a4-9ee9630b82a2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:456da401-6681-4a1d-9742-2bc117cd08d4 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:978ca482-cf77-456e-a63b-1298520bbd58 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f06afc66-d9e6-44af-a027-aa4e558fbd61 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5395ce41-f27b-476a-b5a1-d399972031c2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d42a12f-c935-469b-b573-42ef4f245756 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5f744ef-34af-4f50-b26c-bd7455cb3969 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:694cda5b-17dc-4b28-b17c-c31149efe21e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c77e1fa-3d38-4411-8123-03b9b0285fbf phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0866ca39-e54b-4c89-a74b-3e82c7b641d2 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8511c115-4e21-4efe-9709-6d2ea7bd901c phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3f126b3-b461-4a0a-8241-b2b9ce02612b phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c06e9088-5a9b-469d-82c0-b89796d2d7db phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5f4440a-fc3f-4766-905d-d4c03c4339eb phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6904bd00-4cdf-41f5-a42a-6dddd4ece120 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ae286a4-f45a-479a-a051-25ce536834de phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d65e52d-212a-47d4-9bb3-7993517f7a61 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c533e7a0-1a4b-49a9-b3bc-b462f10ec529 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68a43b18-d107-494d-ab24-09e083a3766a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87d3ab22-9bc1-4baa-8f4c-9c7f7a38b601 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47a78540-8a86-4724-9401-1ec9df6a5a26 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e04966b-2fd8-44b8-a34c-013c56f4f30e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:239e28b2-cc3b-4aad-bf78-56e549b3b384 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0cb90e6-e08c-42ad-9a50-acea68e54eeb phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c112b825-b300-4d38-900a-d5824a8d3b5e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cf6064d-f37b-4fe2-836b-c76716b936ee phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb493f1e-d34c-4191-8d0d-2581fd644fad phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea194d4a-edc1-482f-bf99-060746d86126 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59945b31-d030-493a-8951-5e7be49705f9 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f6e0a81-6fda-461e-af65-e89c5bc44b86 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:711de4d8-0831-4958-91b1-e0615d5f89f5 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25d5d4de-9f18-41f2-9d96-47eb19f1f37e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4aacb72a-59bc-44f4-84ab-66be0405ab3a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f268d91-2234-47e2-b365-febcd1cd484c phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02b4fa3f-b652-44ab-b534-3df1b8ab4f7a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57372ddb-a012-47bd-9f57-2bcfb14ad05a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8796c1a1-69bb-4882-942b-59db40cf522d phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75bec00e-bcfe-4cdf-be10-97641c9a569a phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05f81898-66e9-469b-840f-fe40da54e323 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0d9ea88-8953-4390-8715-81eb57e5ad59 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d6522c5-4bee-426d-9a5a-c0e8617f683e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b60f45b-fa5b-4c36-87d9-b35e9889f4cd phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:006e4fb5-c989-4e89-b6c8-5f91a092f65e phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:37962958 uuid:fc74f656-66e0-47fd-85e7-b34517ef0337 phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:0eb4f663-6a5a-42d3-b5f4-8dcd4408a600 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9d0fb030-f325-4a16-bb1d-b2d7d19f2e84 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37962958 uuid:e2c30585-604c-4398-a227-5f60ba64a70d phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:54486d60-a6f5-4066-8ebd-1280efa99218 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d7981735-b352-435d-ae96-f93bf8c5447e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9b243d99-239a-4ea9-a0f2-c4c66a2f3ebd phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:edb5c838-145d-4033-9015-a30915a0e536 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a2e8586-5b0a-439d-89c5-567d21c54ac1 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f1b45fd3-5812-48ab-b801-f1024763ee4d phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:777815c8-7615-4318-b68d-10dcaff787bd phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6f6772f5-4f76-411f-8f2b-faaaa58eab3d phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b42393b2-12e6-48eb-a16c-68f44533c763 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2f21732b-596b-41d6-bbea-04000b1e2551 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c554fb0e-dcb9-48ba-8233-59b09bccffc4 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:02a5dc4d-7dca-4bb8-8c93-c22a9617dcbe phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f7b19e50-08ce-4700-ac83-c4c643cfbf29 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:759c1933-62a3-4fe0-87b5-2340ed7b30f5 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1850c47f-5651-4bf0-a90a-0845a45f55b4 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d87fc2ae-4281-4857-b744-5a3fa315a282 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4ae01737-0e53-4fc2-adcf-e3123fc263f9 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:11fab58f-7d92-40d2-8a06-c1e8e4545a84 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:72ddf9dc-8e71-4801-947c-e827bcdba041 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aa05c5d2-19a8-4f66-a9ad-8b698ff7f981 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6dcb9739-54e0-4bc0-9b7b-7b24e116e265 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5e780bd7-cd6a-4e66-86b7-4b272fe4bc4a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bf10b75d-6b7a-4341-abf8-ffe76125206b phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c9b101bc-edb4-49c4-9832-e394e34ddf6f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2ca1203c-fd6b-4c92-877f-975105c82afd phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3707966f-7b78-4ac1-8517-bd8148a1f9f6 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3570f300-fba4-49a1-8c09-b0e9f7300905 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:98f7c53a-6c31-43c5-a6ac-e65954936e64 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9220f991-e9ec-4384-9e5b-c3ccf3adfde2 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f7ab308f-e341-4c1b-8006-c4eeeaf9910f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9488b533-fb1f-49fe-bcdd-ef91b3b1943b phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22d25a2f-c020-4a00-ae34-8e2da517e35c phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74ea8e8c-095b-41ec-8473-e653faad871a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:280b0140-5d13-4f2b-9bdf-981d59ee7cf2 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f486804c-81fe-429c-aa35-018b466a5557 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e53d8cbe-fd6d-42a3-ae47-4779aeae3025 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a47121d-6548-423d-8c1d-2cc16369300e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:262aa821-42b7-4dc8-ad57-48b04a995a07 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49f3fe66-bc39-4734-9754-0aa586c08493 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5c86a60-4049-43b9-8ec6-90d8303056b4 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3ec112f-ba36-4e66-86cc-7aba264c471b phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a052c85c-2d61-4237-8c95-ec76a2fe26cb phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b6058b0-fb1e-4e97-b00f-b6bd8e979b0f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:974129e0-3044-4e73-b8c6-20296de630fd phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27ad769d-b222-4fa4-ba39-22595c46768d phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28a358b4-0999-49a6-bc97-167952ddfc95 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80acf88e-0e00-4619-a9f5-b1d1c33cbc48 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb020b69-a36e-466f-86c6-85e9479f391e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56252cdb-3a68-459a-a21b-f663124e3ea1 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:979f46b0-d2e9-4ab0-b27d-839176e5e62a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08f2b416-31e4-4391-872e-3b35dfd1f656 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7163517-163a-4395-9901-e204f3454880 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56bb265c-0fef-430c-ae41-0a648598fa4a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c8d96be-f44b-4530-b24e-28bd4f4a133b phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9148961-5d25-4306-ad99-95ef2fce5637 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1ae7347-0400-467e-8397-5f19ad6e2bc4 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0069b3cc-c287-4547-b105-71b548c047e7 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a6b86e9-89f2-4203-b12f-9e2f1e31bb80 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c72dce92-417e-4c81-a701-743a88ebfb99 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee6aaf81-008f-41e5-8a71-56296e553abf phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59e51a44-55c4-4c94-b90f-66fb4b170e2b phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d61193b-d7d1-4c3a-9336-cff1d92a09e0 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6fd30b4f-1ffc-40e7-b03d-6d172baddead phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54d3f783-6cc0-478d-b086-ab64cbabda87 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48febfbf-2dd8-46ec-b5fd-a1224d16b404 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7779633c-e1b1-40d5-99b7-6d48619c8122 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e390301-3341-4b84-b6c1-4f6385ea1503 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:884d936c-eace-4706-9c38-0d2714cfb6a9 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:761af556-623a-4530-9fa5-351464d77b88 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9636c8f-b0e0-4628-bb77-898dd4dcc711 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97b2edce-e7d9-46e7-877f-a66f30b3fa30 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:399dd352-61e1-4933-b6f6-579611eae137 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1936052e-2ab1-4e8f-b257-831b6b0ee0cc phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cef2027-b9fa-4609-b72d-5fa5ccf0debf phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d409a1c-bb0e-4b51-b9cf-9c7fd0f2c67e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05701b4b-b307-4c86-ba40-26d9e86e006a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2cfe502-58a1-4e8a-bedd-509f7d437566 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4914f2d6-85cd-43df-b57b-f51661b10924 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d37f3996-9a09-432c-87d2-b97bc6fb84a0 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e298b9e-7bcb-40df-a5fe-cc4224e0a520 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f481d869-8f33-43d1-a3f0-5ed4a1eacc8b phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:631908ad-8f79-438d-aaac-014c9e96f4a1 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f01911d-de59-490c-aaf7-10ff633f0e16 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07c7f8ca-20b7-4a30-8ba9-590c14f4818f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5f5767e-3e2d-456f-a03a-72eeec23e169 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e9fee18-7fed-4bb2-8aa8-47f5a6597409 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0bcad9e3-f974-45a2-acb8-5380b0a326e9 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03a3e93a-cc31-4413-8322-3558ec81a988 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41942c69-646a-4592-9967-9759daa81f5f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdd1955b-317d-4c05-ba3c-d47916d57a6e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b24443a-ae2a-493f-909d-a71f07a1ed3a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecf5228c-d1ba-4963-82ae-aa42ae4db854 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57b25c52-6233-4611-8a77-7dc1bc9fb819 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9136552-94bb-4a9c-97fd-21431ed6ec68 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc793308-b100-454f-bdb4-771d979dc081 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a4f85aa-faad-41cf-827f-d2ea836c14d8 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ebacd37-f5e1-459b-b0e8-244a644a0989 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2509748-d838-40c4-8745-d8a833cfab42 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0afdca90-9a2c-49c6-b98e-da2d1824f7cf phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b4f33c6-5cf8-4030-8050-b22c37cba068 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74786736-2381-4f6e-8b9c-8dd1fc50de83 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53963a2d-8e3b-4681-b5e0-8c719a4c95f0 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3130d7de-356e-477d-847e-5897ee0678b9 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31108e9d-55e0-45f8-aefa-5e55b73b6aea phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:756d0e86-7875-4602-a049-e76a37696d7a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69076a6a-393e-44c8-9506-c12ed394bfa3 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38f93df9-8076-4e4a-a02a-9b9bfa11c7a4 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be604503-af9c-49c7-8721-6d7dc9868f65 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:137e8b45-59c2-4f23-a3ea-716ba99d94cf phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02416a56-398c-450b-87b0-72c76aa30b36 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:724f22b7-144d-4ff3-b727-b385af8197bb phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2dd0cf0f-08fa-41e4-84fe-765abd227f13 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b383f3ca-a905-4d1b-92df-81b4a3b6e35e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8aec9a33-1be5-4892-be32-c82ddc90f429 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6a30622-4e6a-489f-a933-4a3a8b76fd60 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e022fd58-6794-4993-9e21-b943dfc98706 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd22e9a8-3f72-456a-97b2-7d472ecf9180 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:002eba5f-8520-419c-a3ac-b05a65190e67 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88f3305e-24e1-484b-886d-c4389c118d2f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f60786d-de6d-4da7-a210-b958daef55fc phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8ada351-faa4-4b64-a0af-a65e7841804c phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f84d5b0-eb6a-4242-9f50-0c2380df0b1a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea4afb4f-d9bf-43ad-baeb-f464a0d8dce9 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf603c43-dc39-421c-9df3-dfb7592a6906 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d31e29f-61fe-45f8-b7ff-c4971b56efa2 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45e378a7-a38f-484a-9547-bf5f68cf2417 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:627ff76c-7f6f-4fa1-ae9f-06df510fb8cd phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a68bdff-01c2-4a5d-a800-7c84ce7a83ab phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18296269-4b27-4704-9b2b-b822c6c16391 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18580aa8-23a7-4a85-9c40-4df73ecd9f43 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6349d60-9c9b-4776-9c77-11bc45753c65 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ff6d7c91-acb8-41e1-8b0c-f826c3c42d2a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c37f0fdf-5e4b-42b4-8a36-271aa00ed232 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ce5c4fc-301f-471c-baf4-e5f1ccf4ab16 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a63ea53-6e19-4b9a-b8f9-9cc544d50400 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24db3839-28c3-4821-b17b-d0fc9cb4bd0e phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb0a6abe-efd3-4303-a926-e49949c0b11a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83fed1bc-afc5-45ce-a9af-ce4c2e0de8df phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8236cf1-f58f-4663-8373-bd4eeb5a2544 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39b0babe-aabf-4bc8-ad9a-feeb6e648292 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8940212-6ca8-40ec-a4a0-d2b627c2e416 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:662d8b84-0a58-439d-b514-7fdabb060108 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:131433c1-f8ba-404f-9329-268627954301 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d310ee0-0a43-4a6e-973e-a40e9f6418b5 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d465697-087f-4e08-bdae-ffefe6361839 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:431b8431-324f-4395-ba93-a180cc3ff371 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:754e800a-e07a-40a0-b63b-ba275e23047f phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:661aae2f-9bf4-4925-bf85-6c469f2b915a phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5eb24cb-5b29-417a-bf32-cd65ae7359f7 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3fe3c98-5a00-4975-86c7-c355ba7e9445 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6c969f2-5f35-4e53-8678-9bbd3a071558 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd48d76d-4549-4805-96f1-9af5f3109a98 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:9178d945-8f7b-426a-9923-759be2b9bf51 phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:1587e37f-adb8-4625-b0fb-da1f84ac3174 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37962958 uuid:a767208b-1943-4816-bc07-18b06f074a31 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ea1948c2-37d4-4f95-8d25-697bb083c44d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7a1f7934-2eca-412a-8620-27a54b75a164 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c86fb0d9-9d86-4056-914a-cce00556ecad phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0962c50a-b331-418d-9351-69df92ca00d6 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5d437aa9-7c6a-4432-b61a-f630e7d79077 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e998edbd-3510-422b-9fd6-5f4fbc37b848 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:68251eb9-5a59-47bc-8fde-0f5b7eeb9036 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6818a11d-c816-41c8-b7be-cd78449e774a phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5c2369f4-904e-4e0e-a358-9110b57f59fe phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0100033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f8f7861a-2365-4090-8f91-f1b9f3995cde phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e506d74b-9a9a-4406-b2f0-99fae7e0213d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:858a2c5f-0a78-4e61-ba8c-fae6f5cfafa6 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7bbea525-4236-4621-9c56-13b4f4cf28ee phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:236355dc-180b-4608-8950-95e516d5dc21 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fe3117a8-1a75-4892-aa28-31fd4cd04bf4 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b7e096dd-8ec4-4ff1-8e54-c2391e70f1cf phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:094e97af-cf97-418f-bdbc-9801432adbf5 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a073e49-30f7-4eb3-b755-fe94e9a49db8 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f6ffb503-8629-4b8c-80f4-5a133200b58c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af713917-6e5a-4c45-b5df-1316b586e26e phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e763e62-ffb8-44e1-b5c4-f063c07a48eb phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00bb1df8-806d-4ff4-9146-e6dbc1d50233 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d1f2c64-1198-4071-914e-9741a9607a7c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6bc295be-435d-463f-afca-8bcf16be833c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0fb625df-f7bf-4bd9-bc53-86ffc24867cc phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4b75a3c-5d41-4ae2-b79b-581b1a8d2e39 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdb590a2-6f6e-423e-b99f-4a3a29cc723c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ccdcc9e-82d1-434d-bf94-42fe87c6c60e phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62eff970-ed6f-4f89-9776-02a38c771bf9 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:112efc91-0a1c-45f3-b788-87d83ba63780 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6efe03a-0acd-40ff-a231-f9afb41f6e8d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b69b963-ed48-423e-b9de-04cc438ba1e2 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d305919a-8706-41d8-8a03-d4a48d985915 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8abad36d-46b6-443f-8ccf-347d2b0f6f16 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca00518d-72ca-4bb3-8f58-f85476282b59 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2689e5a-8fc4-4311-9ef4-ad40e62e7d1f phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab570f4a-5564-4dad-b672-b0a293a2a956 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75486da2-b979-4313-94ed-a7e0b7a65acd phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e036fe8d-95d4-4bf0-aacd-0b535d282c8d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e596e9e-f5f7-46ce-af70-925354d45be5 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0bb4c7d-c19b-4df3-b89a-800a81cd07f2 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8e7b548-4a39-4da7-9e90-44308d9189fa phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:367f8e25-2590-4f94-aa22-01fa8efbe7b0 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e7b30ab-d109-4e3d-a871-7df3a9585caf phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d9fa847-322e-4ff6-8072-de9fd1864216 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5a42854-6c60-4b91-8508-87b4a3093e1c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce518c4e-96fb-4f24-b2a1-a6bc758f480d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec00ee99-42ec-4275-b7b8-53171f7e55ba phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86484248-1c6b-49b5-8747-e75c2d98f0aa phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77a9a5c5-0960-47a7-9491-80fab316bec1 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2637cc47-106f-4527-b4bb-abf480e53aea phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89c0c16d-8b78-4d72-bb46-c98bd86e54bf phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59a4b1c7-b88c-4033-8ba7-6443c5f17bbb phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1689f73b-7d5d-41be-9fb5-e9a40d194a4f phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d44707fe-e341-41dd-aa2e-be5f92f9a7ba phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9680844c-1db9-49c7-ac30-09d90abf9ab1 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6418b4f2-dec7-45ed-b848-4f7ba6ce2614 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef1de568-9ea7-4b95-b5d6-a54a89743735 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b23bc371-a7f0-491b-95c7-a8181e8f50be phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34a0744d-3c9d-4bfb-9cf6-22ca969add02 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16873a5d-a655-45ce-9f5b-fb2bc0e6bf24 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5cfe7b7-fe0b-4868-b250-4a12af0547a1 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fb2a584-35f0-43de-9e78-c377cd82b13b phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c74a996-4b3d-4f8d-8837-b3e3a1768ce3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c806dfcf-f424-4d34-81a8-efa9df6188f5 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67fe3d08-f530-43ce-aff6-480befd969db phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34b0271d-1f4b-4bd4-a9a4-30c5cc0692a1 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0340578-4c0a-4a4e-b079-a73f401cee15 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ffa439b-cff4-43b1-83fb-798ead5f94b8 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64c85093-3978-402a-8603-604a54f380b3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56f011f4-d805-473a-a126-7b91e49438f3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5818386b-55eb-4351-a3fc-e11c6964ed36 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4057c34-8df5-4e04-a0a2-4c85c0419252 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7ad0b5a-c6cf-43fc-a089-360d9a7c56e9 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d02a3373-8850-42b5-8f59-8a87979bca02 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e56cc406-07f7-4c78-bbaf-8efd4cb44631 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a17a8ce6-aedd-4a11-841a-cfec60cadbf6 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e00e813d-088e-4b6d-b58a-836a0ce1fc1f phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8141d531-caf7-42a0-b3aa-0f5b4838dabd phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d6b7850-4d63-4a85-a06f-654fef348387 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7472042-7394-43e4-89cc-b8e84c50cf27 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de3d8cab-8498-4c5a-955a-1f99e4dbeba2 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80f1c834-23b4-4a5a-9b10-c61ca2bf8710 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec839abf-e759-490e-a814-886074478e88 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30938632-eb08-4dc9-8f5b-2b393a0ce5f0 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:375b80b2-8f8f-4f8e-90f0-394b42c62444 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5dd912a6-fe2b-4b74-923e-60e8e0b0ccfc phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b9ae2e25-2443-42bb-8dd7-d69cf56e217a phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:609e2071-ab03-47a6-b951-2e93caf80947 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e49f8bba-d2c0-4a2d-b716-9008ab864ad3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acb8cc0b-c95a-47ec-9e52-3a3bf537cc13 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e4ba751-6c49-4b3e-8359-3f1985f7511d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2f1f5cf-6ebe-45bd-9e37-43ddf48f849a phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3bd516b-dd2b-43dd-ae2d-256bea0b6348 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0842fecb-d972-43fc-b375-ab76534c5b9e phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ab03e83-9c4c-4d7a-b9ce-78f0740d875c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98a6bfa7-40f3-48f3-bab7-bba41eb80e39 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58ed1f8c-d6bf-49e4-8244-e723bf749d32 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b481b957-389f-419d-a424-eb7cb54cd744 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3239294-705d-4294-9833-9fba7f9c12f3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4329d9e-a750-4760-995e-c73cba7d9961 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d669066-7ee8-4330-b9e6-527f3ff7de2d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ffff8732-979c-4417-865c-e212194a1e7f phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d443cdd7-e22a-461c-baba-ff69bde53816 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49fafeae-abbd-48b4-9679-a94169f58025 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7772a774-d420-4c36-80eb-b80a1d91d8cf phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:392a8c70-6596-4649-a5c0-2116e65a1901 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6bebc8dd-344c-4a5c-af65-471df47fee21 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59c5f072-bdde-4ae0-a2ff-8bf305315ed1 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:568e349b-f056-431b-980f-ab5150fb14bc phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e96ec26-7cf6-4345-b88f-87d177226200 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9409ae60-ff1f-4414-8cde-8292b20b9426 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f66f2ea8-7bda-421c-aa5f-16826eb1ad54 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:040bc0ad-bdae-477d-bf83-9612481fb7eb phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0bc5586-1de3-4ebb-9acb-8dec9b61d698 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf6fe908-76e6-475e-9aa9-1f360a4a9394 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a1446d7-93b4-40c7-ab13-b3df21a21237 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6efa0466-7ef7-4604-8492-624030e39623 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2feace0-c141-44f5-b564-2f6a392f62d6 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5594c6fe-79f3-47fe-979b-29a792e061c6 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ffddf55c-a1d8-4396-8153-69d0d1e401b3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bfe88a8-672f-477f-9845-7c760560f71a phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11efba60-a088-4466-8f86-e8fec56cff0e phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a69062f0-68ea-4938-b418-85db5a731c81 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ce2941b-8d97-42f8-a27d-7d4922d1903e phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61745464-b4d1-4dca-9376-65123866d688 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eef20d64-e06a-4db5-97a9-61c1977e66c4 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6005b709-c10f-4c8f-b5b3-c943f2480d7d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd2bf782-f275-430d-a504-3bd0b7f6f515 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d71b3d08-e7ba-40df-a682-1b00fe4b26a2 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:338f4df1-a5a4-431c-b28b-7ad3768673dc phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc9f271b-0f9a-4c4a-8ff1-d27e14e14e8f phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5608908b-e631-431c-ab03-ee1f462429b3 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:305541a4-3ccc-4aaa-bf25-a07b6366b866 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7211455-2f5e-4831-8131-c3a9d036dc08 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66df85cb-6e00-4591-b3b3-2df300ba3639 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f225724f-f97b-4eb4-b987-1dde64354545 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a65f36f-81f2-4758-9ad5-e4105d0f3105 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d2f7267-cb7c-4195-926d-e4c2627d1297 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6d372b2-0745-4ef1-9c7e-3f0459cc7f52 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57e8cb87-6712-40ed-a0df-6bd9ce895e97 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:525dc0e4-8d22-4cf3-b9ec-2db7002dff08 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43d2597e-2459-498e-b54b-1d0f34292c6c phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e4f1f49-1a42-4aa2-979a-fd7a1c060ec6 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52a84b65-3315-4cd8-854b-115cc6042d22 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e504471c-8880-4efe-997a-73a817ebdda9 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca19c3a1-d5c8-4963-b012-10b9adcc779a phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ad7a80d-dde0-4a5b-9882-8320fab92216 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34d711bc-f9be-486e-b061-babe38f0d7ea phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1761544-aee1-48d3-bc3e-22e58377de11 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:042dcbdc-0759-4e5b-a918-63bf8fa6acd7 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c06c48c1-d0cb-4991-a082-f6b43607af5d phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6361dcc-e5ac-4f15-bf54-fdc560114dd4 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a738438-6cd3-4c0b-8d7f-43142d248107 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c26f2925-68d8-477b-ab45-f5d5f83850a9 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1a9fc4b-b709-4e0b-b3da-bfe189e3ba07 phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:78f07e3d-64c8-4b22-8921-742cca827a0e phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:afc27887-707c-4942-b4f9-bf60d87006dc phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c17062b5-c208-4d9f-9674-2a8c574bccd5 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6b747924-41de-431a-8b8e-790347a129cd phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ed65a507-d73b-47ce-b4aa-78c2696105ec phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5484421a-3199-4942-868a-a29efd9c79bc phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:436e6fd5-1d62-4e93-a0ec-d28112851a13 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7c8de061-f9f0-4355-a855-95c034179900 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:116271f2-b80f-42ba-a876-1d6cbb666584 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:419d94c3-63b4-4caa-b48e-a5acfff843b4 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:472d3c7c-20bb-4e21-98e3-6f6e5f983a66 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:18c31dc3-55e6-40be-b4b9-b470b324ff57 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5dcccbe2-30c5-40fe-9954-cef07c52018d phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f73e671d-0554-4bd6-a955-8a4e37d2536d phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a68ebaa2-5884-488d-8413-1e2a29c18fc3 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ce146ef7-7b37-4639-8e8c-c5bc1b5a01f5 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:adf37509-f281-4b24-aaeb-d7972cc8f2f4 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aaa1703e-e929-4476-8399-a83e5a1bd726 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8bef6202-38e1-4bf3-a71d-1c57c4e5c300 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c07c9f4f-4c56-4b38-95ac-178136b41f13 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7ba5f4f9-f91c-4467-8dd2-a46514e42a67 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:da7dea40-c12a-4673-8b70-375b8e395e0b phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:794544b5-c59c-416c-8809-929f3d921538 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c029c5bf-127d-45be-a128-d9ce46cf29ed phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c69f5db-68a0-4292-828a-f546dcb834e2 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c80f647-1db5-4354-8f7d-774e888c6818 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce98a0d1-eab2-43c2-855d-4bb0c4dc590b phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14dca228-a250-4929-b6a6-2a6a154efdad phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a22bae6b-1024-4bbb-b3cd-2e30848150e7 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d4ad5210-ddb1-4325-b03a-02de6d1bda85 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e1bf276-7f8e-4e60-b5fa-b5e04640153f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32d98e0b-b065-4c6d-9020-90fb6cd650dc phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51d9c935-554c-40d3-b219-b3b0c92429bc phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:668d37cc-299f-47f0-99bb-32f21b1989f2 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75e7516f-86fc-49a8-9e2c-496404ace8be phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3df058c3-4e8d-4969-a8a3-fd800c565dce phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bff56776-25a9-4758-b766-ee251ecd0e0b phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:455749df-3f28-4d0e-b87d-cce58310de20 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5b30a2b-0529-44e2-ac8b-852475f0252f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04e0a621-8e31-4425-a44c-2f989ac3bd44 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9a95d54-0d05-4c41-be97-b9c3931860c6 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14651338-5f31-477b-9eef-48dee940620e phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:193c6266-529d-4753-bc9b-5115ab30057f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6502a37-7a62-4e33-9c2e-37af60e4f980 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e58a9f60-980c-4791-821b-4050fd383b29 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ff81b1c4-33de-4ce1-860b-08de01a0ec31 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eed2748a-5a3b-46a2-9229-e5c573747562 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:953182e1-7c0e-4753-9905-e876ffc78840 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af0544c1-7628-4142-bba0-4abf6f37aa03 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09c3bd44-24c8-4f58-b1df-a1d2db325d6b phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fab774f5-3b40-4f18-ad14-298d77055cd1 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21794380-cbd0-478c-b6bd-8bc71c4b4bf6 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0636e16f-6033-47d0-b854-1bacff4ba670 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f235e85-36ea-4131-a383-391d7ef30408 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d096ebc4-77c7-4079-967c-167396f25199 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e179ee48-cf46-4bec-9780-64c5329998c9 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb21cedd-95fe-420a-ad81-a17e9763148b phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82c6cd01-bb42-4dc0-8b17-61a857690ce9 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7af2ada-0a90-400f-a213-5028506dd39c phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76c76bf8-0b63-4837-9101-df4ed76adf54 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9d74106-8dcf-4cb9-b986-30c401612777 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b60c1466-8f9d-4514-813e-e7985ccdc06a phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac1ae849-cd0b-4a1c-a8d7-087ebf7072b7 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae61c9ba-884f-499f-ab1e-0723984b2d74 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5291de8c-f6a3-4e14-992a-09f5e4d71b50 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34980389-aa87-41d4-acd1-0e9a0c9e36eb phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00cd059c-91b9-439a-a962-3c6087c790dd phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8dc1ff2-ebd4-472d-ad50-dc98660e72ad phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fb76a13-948b-49dc-80ad-add62bdde6a9 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37953f2b-f2c6-4ec0-a796-1a5a042de613 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:575ccda6-0cfc-45db-be6a-4901e7f5e1b1 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75c6d2a8-61d7-4c91-8558-243b51c7f6d6 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7123340-e3b2-4144-afcf-b1a52500139c phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a95899f-fb51-4502-ac0d-f6a28c681aec phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51b4b560-db99-4153-8595-058357383f1d phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33a83aa2-8051-4a4d-b920-b646dfe47301 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cabd0f6-0710-43ec-9b59-8662593d6235 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34ea68cb-1602-43ef-9570-217bd9e0aedd phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1e9c16b-377b-40ba-91d8-6f0331f532f0 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a2eb8ae-2a6e-472f-b37b-35def8c6c12d phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bba1d1f7-60c0-43af-9106-fe0f8d63b23e phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7485949b-2ae0-40c7-bcbb-66c7dc651d2d phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f201a0aa-c88a-40f3-b620-aa3e1c2cbd76 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6141a84-1957-4d97-aad1-e686f3df7077 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:602313ab-4946-4687-8a82-2754c373a33f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9018ca2d-6c12-48f9-b9e5-2f8cf23ec330 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afd9609e-97ee-4e62-9ed6-f107fb0641a2 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61232094-07f5-4dc1-8bf3-f1d11e141110 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98637ecb-4e31-4825-8cca-e2829928ebb4 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5dde064e-759d-4cac-9946-f11aa25c3710 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:320af352-ec0c-41a6-9e6d-71c4c2281564 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7caaee25-73fa-4c38-96eb-bf4401ef3a3c phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44c3e717-0f81-4b08-be5e-ca75a806dd35 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a5ef478-970b-407b-845b-c37f1e600795 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:478e2a41-c185-4974-a66a-0f2fde6cd233 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d021838d-8fec-47af-b22f-674d5c91bb79 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:358341cf-6448-4e4c-8d18-596f23a1e9d1 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c035a3df-34db-4a68-8567-2970635bf917 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:442b467f-42e8-4c37-b878-1ef281b9b7d5 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdfe42ba-a465-4ab8-8781-a5b51f1233b2 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e20274c4-d45b-4b2a-abe6-558f39f84db5 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3cdea0bb-e650-4fcb-a1f3-a2890ad1ae95 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9bf4cee0-5ddb-4e76-ae24-33731ec8a425 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2b00c16-cf9a-43c8-bda2-bcf651e843f7 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f791d3c-9401-4c4f-a4e3-93005b710079 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50311241-a37e-4bc1-a4b2-0af1861ba13a phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1dae927-0f3e-47ba-beef-68e9779608b6 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:469475d4-1cd7-48d5-830b-7d9ea093cdc2 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a220efe8-b097-47aa-8271-4051a384a24a phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b896144-c333-47c9-bf5e-8e4c2ec5d0c9 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c97a241f-2b72-4e39-828a-c53213a81368 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ae67e1e-c7b1-40fc-9073-eaba9e8c03db phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b94cbbf2-371a-4962-90c3-52046453d390 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5cf9904-557f-4cc3-ba36-17dac550a5f3 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c86d66c-45ca-40c0-88f7-5a7874c78ba1 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6065b93-9996-4ba8-96a8-6ac7f5a35664 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a5c8546-0fcb-4376-aa74-5fcc3bd70d19 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d68a5831-7045-4e0f-b4fc-c0f5a276f0e8 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aafc7605-6ad2-42f6-911b-0951b22349fe phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2335520f-0084-4d32-8cd1-c676e82ecdd5 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:167384b4-0caf-49cd-aa51-1912917c6783 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e7c562f-f853-4358-864d-0fb4ab235687 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c43ede6-0fb9-4448-8af7-f056cc6d67c9 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e3e25da-d2d8-482b-943a-2749898750f0 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9dfb19c-52a9-4d76-837f-1bba3334e31c phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb4ec33d-8b53-4ccf-ac67-8e3321146afb phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53ee1728-f21d-4715-bd83-af2766c8ef8f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58c60b57-5365-45a1-817d-611860ce8c6f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07fed878-4467-4d60-b0bf-d56cffc1e857 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:791dbb55-3d05-41ec-a979-5ad138e07a73 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a66d31cf-e52a-4523-a1a0-6d5e597b41f2 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64299815-884f-47e1-adb3-60e1367758b8 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e2ed41b-050f-45b4-b1c9-f9279b94ea03 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a67bd286-4afe-4656-b33b-999e23b74b3c phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2710154-9ee4-42b2-b873-9e07bd6c035f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab21b4f1-e6ea-47cf-a5ec-ce5fe46fca6f phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf08f743-8060-4df1-8448-f34d3b5c5fa0 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:595e1a15-a37e-4395-9e51-a447108055aa phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abfae6b0-980e-48c1-a17e-876eee474028 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8261a41b-188b-4714-bd9a-0fa201eddb7d phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80565121-62b5-4061-9e36-1e7d46d95334 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d9eda3f-f39c-49a5-8c23-c9162bba0ff4 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1aa9e3e4-f739-47b8-adfb-15fb4f29e4eb phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8e540a8-bf24-4670-b8b2-7410d711dc9c phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:642e4f39-252a-4980-82d2-ad9a5ea3969b phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41514028-489e-4096-9e85-a9be7c5e82e5 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2f8d81e-fced-41fd-a3b3-8ad41af146ad phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e989ac7a-ca20-41b1-b478-f4f66b2326b3 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18f8682e-1608-4cf9-b4a8-dd39ff55e151 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12e2cdbf-2bfe-45c4-be16-a33107c3b1fc phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27fec42f-23b4-4601-accf-bcc711ad1422 phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:a8420afa-543e-4fe9-acd7-06ebf8632aff phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:d95305ca-8c8c-4793-8b54-9d1507239779 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2e909416-56f5-438d-9d6e-1880440f474f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d9fb65f5-f066-4899-8798-e49792c86e4a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fc59364b-c3ad-4ecd-a264-4ff361146d02 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:56b609a5-127a-404a-b5c9-64e6f56689f1 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f66e8cd0-9190-4424-92cb-139fde20887d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f6123fc8-518c-4d37-bb7b-677e4c233505 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2c727a3d-6482-42d1-938a-1c4763f4f0a2 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c1b2d1a7-9985-4ec2-9cc4-107ef05e4b99 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:173170da-dff5-42ad-9b73-cc4ec9c9b386 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:524000c6-1ad8-462b-9bc6-aa61459005b9 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f5f61aaf-83ad-434c-a47b-404774c5175a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f6f57265-28c4-4b59-97ff-136b97cbbc49 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:26bbe37a-01e5-438f-96d2-9d7676ff5330 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e34da44d-86c7-44e7-96ab-d9fa66f1cbe0 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7443da25-0da8-4864-8b61-a6834d610dc5 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:724d886e-fcf3-4371-850d-67f442cb4618 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:60560b7b-ae3a-41ed-8312-328c559d9181 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4e05124b-3433-4aa0-8219-da271b4240b1 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:54a8e46b-f39f-483a-bb39-dbf2ab038b22 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7069c1f2-ff95-418d-8ac0-d3b30a4c45d6 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:50a003d0-dc80-40cc-969c-821510a4712b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:184e65c3-bddd-4fe8-95bc-93d07f73e71c phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c955ffa8-e014-4f51-8e91-8f8ff90a2aec phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1f65be08-6fc0-488d-98ff-943e1472c716 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7e94f41c-19c8-4812-8114-e9d2a10bbae2 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8d7b60b2-7043-4120-b7a5-85ca387bdd6a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2b1f3632-8b02-4d9e-9cce-a1cf41d85df3 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a1ceef50-d7e4-4b9a-9521-80936b4e6ed0 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:77056549-4e41-4d21-922f-1fb4df4f8c8c phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7271601-0218-43ab-8a30-3c0d2a2a290a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e8bc7b3-4538-4afe-9826-7bd37b6b2f91 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b7f0f8d-4121-4abd-adec-ee2d3fad6bd5 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7763526-d359-4d98-b10b-ee8ebe9dbf43 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f79c863-9c08-4e2d-9d76-fb9d62a00b9a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3aa2f4d-e1b9-4b7a-a8d8-b23d6ab1c05b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4973815b-5b77-4d0e-8781-0a5ca53c1fb3 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5bc4dc9-3ad3-448b-9477-522e3949b1a4 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b64f0761-bac4-4f7c-a387-e2f2748658d8 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ae53214-77e8-48d8-8282-1669c8503ef2 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41bb5a80-1cbf-4e86-96b2-626017a023b5 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bddf3f47-59f6-4f4d-a08f-d56cd5683110 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe236afd-7505-4d12-a1b0-0fbfb6c097d7 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98539c2d-3b86-43cf-9cc6-7b5a8d320d8a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4f29495-483e-4a6f-9497-45d18f0ace90 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0498379f-040a-4284-a0b0-717c28a6c2a9 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69d92aba-f91b-411d-84e9-e2452fd8ec5c phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db0d0e9f-0bab-42f7-8c4d-1706121e05b3 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f57799ff-d826-433a-8048-3ebff876a255 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91fc64ae-7276-4f54-b7db-cc8603c3e3e3 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf63f412-3196-4f2c-8df6-e92eb4d32e30 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:906cd661-a914-4f61-9685-18e23cc5a81d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56ed939c-86cf-4a4e-80aa-a64f31d06f94 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6dd5248-415e-4191-8967-c21376c74cc8 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e679a975-7efd-4728-b6ef-7a0c850f1174 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00c1c204-f7df-4b4e-8acc-465258b70eab phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bdf77a0-34e4-42fa-842b-31f85f973d8d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30540154-1f99-4486-a2a3-8c665b1d17f2 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:718d4d7f-55db-4635-af34-80a9870993be phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95b831a2-a8b2-49b6-b81a-f0f90279e0d1 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b47c0449-1621-49bb-b700-405d3dade084 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:adda83bf-87b1-47be-bafd-f560f1cfe53a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b2d5eb6-6db0-4f44-b56f-485e39a2fd83 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13692eb8-9990-47d1-9133-304de99b86b5 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b232e3a-dd44-4ee6-95b8-aaa6b72041ab phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5228bbce-7f33-4143-8a61-3823deb5c4ff phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66bbd8cc-1bac-45de-a4b0-1114c205613e phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f4ff9af-426f-4d8e-89fd-231930faf040 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f0d8ee8-4964-4b6b-9d6e-791f767026e7 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e9af30b-f642-411c-9a84-9c613ebf7fe9 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15b843eb-9504-45bd-a626-ed10296d7582 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0e25284-d755-4a5d-83ab-1e6560cc4f8e phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:552e1050-4fa8-4855-814a-881dc1a7154d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7b76f51-3281-4ec4-b30a-a8d4ffb58f1b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4206e77-40cc-437c-8fc1-9a48a6d48a24 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d40f33c9-ee40-4562-8fe7-eb29d7207ffb phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d10d997-6ecc-4d3f-abc4-71cd6dd580ff phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d7f07bf-64fc-4038-bbed-eadc692fc01e phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4ef5820-d778-46b2-848f-aa8ffb3ff6c0 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24c8f2de-22f1-494b-aa50-e1bf6b8adef7 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34b6f8de-5fc2-45bb-85fb-05a2d047592d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf84bd4c-0990-49bf-a9e0-4dd43dbf2534 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80bde364-69ef-4508-b16e-9883ff73f497 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f03236c4-3111-4430-afe9-8fc17422dece phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6cc20922-d82e-44e8-ac77-3d53aea393c2 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b9ab054a-3ce1-4c04-8e52-f2898a673dae phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0d74b4e-d446-4d6b-bc41-e33a2e28c8da phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8f11e36-8fe2-428a-a397-8f4d15c5c9f7 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2e29dda-11ac-4e79-a230-9f55455246d0 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc10d3bf-bfd7-4394-b1ca-1b275150dd59 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a052e6bc-cdfa-4f27-ad14-d39bcde4fb60 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2df2400-f128-49fa-9a01-53795798145d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d4883154-8cde-4aa1-89ad-52813b4df142 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ff2a7b2e-9c22-4a7d-8535-e4a034ec3d2b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13ef2aa5-53a8-4912-9a65-4da44472016d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef1f0f0d-39f4-442e-b761-0d1e0bdd215c phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5aaf1bd9-b443-4ebf-bfa7-4af4f5d21c48 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:105db7cc-63da-4c72-800b-93447f3bf1fd phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d163ee6-3a5e-4168-bc9e-67da4efd538d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1f9de66-2c9c-4ccf-82ce-301a9b7aabff phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0d08c2b-6fec-4411-ae85-c25668f3adf0 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c15658b-09ab-448d-afd0-072b30d3ef8f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6faa6ea4-b91f-4184-ade0-d709100a41dd phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c294dbc-dc95-426f-95fb-ad3184a26088 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e4b24ae-c0ea-4438-9128-208a1b860110 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b26266dc-4466-4256-b97f-4ab95a62f344 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:832ec081-d423-423e-8ba4-90c12550aaa4 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd7fdcf6-700a-4666-ad42-7d350c866495 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eeab1b6c-d6ef-4a66-b65a-c1a44eaed709 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1324a437-e47f-4306-a102-a234873d7a9d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b1b8ff1-bff9-49bd-a359-801ff271f1e3 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07115819-709f-4d30-b211-23f691a3fde1 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4de17aaf-bd2f-491f-be1e-28ec6697075f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf342eb1-c929-4be3-9b32-986f0fe3a226 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:875d5482-fc46-4d1d-ab42-ea2056a4836f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fd699ea-9cc3-489f-acbe-d6a10eebf5b8 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9857a9d1-217c-4e9b-b35a-d5e9865c52d6 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:107df8d1-dc7c-456c-9d48-6133458d1f14 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4f07b90-bd2a-4771-a1d4-c1b6055ba032 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b37f04ee-969b-4278-8a21-664fd004f089 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3e957c3-a370-4d9e-8d04-772a4de00f0a phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35b0dc43-d7c3-4337-b3ae-799f99f17d01 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8dbf08ac-aa6c-49a5-b6bd-0494bd4b7a58 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:251c6b5f-dd6c-46a2-b50f-93a5858d1f5e phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ffb3fb3-21ac-4394-95d7-f24b1e745606 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a592683-7ae4-4e96-83c5-efd077fd8c3f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e11add8-8545-4e2d-ac4b-3977b25bec31 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9288277-2c78-4060-a040-7ddef416149e phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5bcf5ab-4909-4969-a46b-8b12cc24e3f4 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54316642-4177-42d0-9180-cce365aa754f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd763cfe-5ffc-495f-ba9a-a1bb433a1da4 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01292ded-fcaa-4938-86c0-f1a27aa0cc40 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2fcf9c1d-9ab2-45e3-84a4-371d66bb1379 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6104e56-4993-402f-9eb4-e92a151dc56b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3e9bd74-6ab3-4ed3-8d66-0dec854b2435 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2fefc8c5-e5df-4ebc-b3b5-c0111c0bfd17 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb8b42d1-6f32-4ead-92f5-f9b7424233cd phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03b34bcc-1f09-458e-907c-377d1f85f09e phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75e10061-86c2-44b4-a242-35da6a5fe2d8 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9554a5ea-f960-4cc8-9f57-7c02a7730ef1 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:463ecacf-3fd5-418b-ab76-88f5c047da3c phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbedee0f-d93c-4805-8264-15ce330a6b1f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f774f2b-a9ae-4e88-8fce-bfaace56ec91 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbe3bd3c-baf2-42c4-97d9-755a6e2e766f phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c4c308b-5565-4d51-9d6c-88ae1e6a70da phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93853ed7-97de-4222-8a05-4154aa53354b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4942ddbd-1077-48aa-ae83-11595f73456b phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c8aaefa-8ad1-48bd-973f-05e8c1f15cc9 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2181c626-196f-4dae-8f30-569bd536a9c9 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9b9a9cb-51ed-4353-ada0-f6afa69dbcca phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b79400a-f19a-4836-b59b-c2a9d14f4cb3 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e40a296b-fe56-40e3-8a16-ab68aecb67da phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:938e7923-b14e-4c9a-adfe-30c013107d64 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:daa49b42-9547-4055-9f77-8cf29c5c4b96 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a965398-061f-4c59-ab35-cc8655a3c52d phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2356a4f-8d07-498f-94a3-fa4bc8088d87 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:552c3486-30fb-469a-a210-de904a7a5f40 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5de9ba9e-29fd-481a-9429-4a4717089f14 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:523668eb-8b1c-4f6b-be52-c5237ecc7573 phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:56a83f4f-f9e1-464f-87c0-0873ef3b1aff phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:6ce7d04e-eb12-46fb-bd23-ac5f98d6a7bc phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2b502e8f-eb4d-47b0-8a8d-a9bd6ef46a29 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:261e6423-4840-4365-b6c5-9982d96b033c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:37962958 uuid:dce11e21-32f0-4c2e-b2f8-c3c08e09b508 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9f8237d7-96c8-4914-8a03-340de427c3c2 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3a246287-b2e9-4059-ac4f-f727eca6e2b9 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:385274b6-65d5-4346-bb65-5969a5646c02 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d3717a13-e109-4916-933b-cb31b791298d phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:193ca128-0116-453e-a524-65f36b65ee9b phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:53174a37-98b0-4d3b-ae67-672ac23cfb1a phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4ae799e8-7fd7-4e5b-a987-edf0a9f796ea phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:91d88870-5667-4ad6-b165-b5134dddd9f2 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cabb8518-b3f6-4ed5-94bc-00d2474cc411 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5bdf945a-b81c-4337-bbb0-04bb1699969c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6fc69a18-2a1e-4748-9dd7-0848cd886917 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9165bcc2-1333-4953-9e3d-d164b3447275 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:90ae6fd9-746d-4205-96c4-6561b4b11c0b phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:93acc374-669c-46ca-9bca-95d1dc29c02e phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dad6a624-2972-4f18-89a5-8a5254b895f4 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:09e2b97e-ad86-46a8-a1d7-6ddc91b2620c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:81fae73f-64f2-4566-928b-4933fc003ce3 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e61a430c-3e3b-4361-9f72-980e6e40b4c8 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d55f403d-d564-4795-9608-2575340d7e47 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d62bea8-d9d5-413b-8905-86d8cd5b8627 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0dcd6002-12cb-4629-8e52-414940f6a75e phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d14565ce-2230-4a66-aa95-38b4ffd95f39 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6528cbe3-2647-4968-b40b-fd1463751086 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0608b355-6b83-49c1-94e4-56e9d2875607 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dccb3688-c5ef-48c8-b73d-7ea06369f051 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a9ed8a0-da86-46c0-8c72-d7ba2c626367 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aac55312-d50c-4656-b47e-3defb5afb9da phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e49aca7d-017f-4f92-97bf-60f1da2a5ebd phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c3ada43-8d84-4612-8f1f-b4309b0095e1 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99f79982-27ec-4e9e-a48d-7fd4de743e30 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:292a4686-535e-4881-8e1c-b0b96dde4c90 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8994b9ea-f82c-4522-a713-ebd9adeda5dc phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0e43845-f7b7-4bc6-b4e0-b9979f8b0428 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5398f49c-69b4-43a3-a9c8-356bff369e86 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a2a8905-8f6d-45ca-b027-6d2d6e68a732 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3317a1d4-971f-4cb4-89f1-754dc53a1a15 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2dbc0c9-fbb7-4fa8-a8a4-6274162e8a58 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b403231-2500-4e82-a4f0-2f520f957d62 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7167618-79fc-4e1d-9ed7-f5c6e2ed2bc9 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:765f7255-9cad-438d-84d0-aaa5b23eb09c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23a92fd4-898b-4ad8-bfab-946992be7e54 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af567b4a-424e-4e38-9a37-9e25360c6087 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdf80d27-c598-4a99-b937-8b8d1041a9ff phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a56b8367-92f9-45b1-9eaa-e80f2309ffe4 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea3bd0c3-c405-44ba-9d1c-1ac52bb90117 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d08b7220-356b-4f0b-8acd-69d6f2b4c3e6 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efb4a289-468f-4ba1-91af-6f877e4af5f3 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c676980-929c-4218-b06a-9641c4d72729 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d773cd9-88f8-4bc8-b0ab-da4d8d7a9402 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7648560e-3da9-417a-ac10-ae28e402bd8a phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64d7b01b-13ed-441b-9a08-54a7bdde0cbd phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6425414-fe29-446b-b328-2d6006a92e19 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3db93732-5da0-4efa-b489-512fa616ea54 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6106c253-c6d0-43b6-8c1e-f757c6190a19 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3670fbb5-eb3c-4753-993d-53b29715bf08 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a59571a1-3be0-4f66-9a6e-f2344086d497 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6562f4cf-21a0-4089-a85e-b6a158accdaf phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:563c026a-9de7-40b1-8991-04b04c4b5784 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c9bd3572-644a-4829-b9de-0ee61f6c815c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2071971-cea9-4d26-baa2-651ff65ac14a phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ccce407-976d-47c0-84b9-4ddf60f086a3 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46645914-3c83-4169-b478-ddc7b05e0e47 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:381f0f93-d8b1-4e0e-8432-82e6c86e20ce phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bc00b18-e18c-49d8-9408-2405ae453c4c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:837573af-e5b3-4b1b-ae6a-fd26ead92d80 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3eed7088-2732-4d45-ab33-c9f60836d695 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7b6fdfa-e4fa-471b-8d6d-82bef30e9bff phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf0d9618-2469-40c3-90ab-5a5a1c28e6ac phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3964e19f-17e8-4f6f-8feb-e8cfc00e949d phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e225b5b6-a730-4cdb-a40d-cca2303ba189 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a624880-16c2-43d7-b895-77e111b94553 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32496177-a9cc-4299-a9c7-6441d56c0dcf phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79930e9e-ece6-4434-a9c9-b764a612819e phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3782ebf8-6338-4f52-9006-1d177f5659e0 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b0e414a-734b-4f19-82de-9b4af070d413 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8e61be0-cac9-480b-8b8c-f19590889c57 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61569a21-7662-4bd1-95bf-92c5d288a4c5 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dfae48a3-3153-4718-a6f3-bfa6c0689bff phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ee7b2c4-7c5d-45c5-8351-6405b0260a75 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a59606c7-de4f-4bdb-87b0-41b98acb2473 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7911cb38-0421-4a83-87e0-b9e9d8243de5 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81e474ea-767c-4e0c-858d-42a9e5cca793 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:700b364b-6e98-42a7-8b34-9f86902752ea phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aca3fe54-412b-4ae4-b58b-edf2edf6f0df phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:692763cf-f561-4881-853d-732912318e99 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2573ebca-62aa-4e10-a815-789aa5cd4e37 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:185cae39-e734-47c7-a6ad-adc0c64e81b1 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e1021f2-d177-474a-af2d-d5c2511f3fef phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ac71b92-5c32-4720-ae3d-d1123cdd32a6 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:728526da-d649-4d0e-b771-20a2ff8c6a74 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be062539-ef4c-4cd8-9f64-ddcfe745e813 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4945fff6-2a50-4853-8589-b2b17bf2a61b phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a447b004-56d0-4026-8ba6-839a233a463a phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6272d99-baf9-4f9b-a092-8c4f0468dba1 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6604b82-22b8-44ad-80f3-8cf3b853ea85 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:896720fd-320e-4a96-bbda-7f3d478105db phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:366314ae-f26e-477b-8a7c-6608d7da13c1 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc5715b7-335d-44b4-8038-05dc223cb8ca phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0383397-e725-4bde-91d3-6bdb4305df78 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e942c01-ae8f-4a79-a15e-51fbedb1a15c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0df5a39-1e55-4826-b887-7aa1ba4db639 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acd68258-4956-4156-9fbe-60778866bad6 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a6f38cb-8d46-4d5e-a172-36edd975ba4c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6159cebb-3220-4faa-9af2-fd4a958ee601 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd33a9f6-4211-4291-9ec0-071b3b3f2564 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d33bb08-bfd0-4e9c-b825-f40adfddcbad phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe59f5e6-9d4d-4e63-a115-53cea7b03201 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93b01eaa-5b6e-4782-b3ba-2fc242e1cac0 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea42d581-247d-4479-ad93-41f779793a38 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a67c552-d4ad-42ed-bed0-8e44b2ae138d phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f80d37d-c1cc-495c-823c-10709fa847ec phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8874ffd5-7256-4eae-bbf7-b9026e5847e5 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3bcd708-3f30-4314-9ff1-4e79cfe0671c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7aa16779-1c77-4295-b2a4-24b831ad309c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b4a9826-b505-4e77-ad27-f5756dffae93 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b979917-7960-4212-bcb3-fd5f756d4425 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83e58c5a-fadb-4f7d-aca8-1f0e3ea18a78 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:825238a8-70f8-44e6-9f64-cb40bb61ba3c phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3a8a777-7ac0-48cd-8fec-1201dcc25032 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:213bb0d5-8f0f-48f7-9082-50a35ff67e97 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdfa83d1-b00e-491c-9982-e9dbbc773f12 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0bbdc199-6804-436f-a915-ebaf43a18128 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88196481-79de-407e-918e-275f6b6c2acd phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d1c9e88-3aee-4554-9951-38c9c03e27e8 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78e24a1c-aae1-4eeb-9536-03821c923180 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1af683a0-dcbb-46c5-baef-721478926778 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38e9a26c-f557-4d97-8e2b-fb33cc1c339e phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30bf28b6-63c7-45e8-bef5-22926d12fef4 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c61e85f-b11d-4463-8916-d4a492dc32b9 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbfca5ab-7f00-41c7-a6d6-fa8f6c80e7b9 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c48c534-d4a4-4687-9c34-c52b0442196e phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:422dbf2f-8fa1-48f8-bfc4-40645c55a315 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1080852-3973-427f-a033-025c1dce09d0 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c0cff53-a1fb-4526-b655-9cfd7ca98130 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c28fbd6e-c7a8-45c8-b992-9197aa96be2b phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e248e9c0-1926-4d45-9ce1-9e36e715d57f phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:765ea531-bc59-4924-bd42-02ec4ee68892 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:919e6f32-6acd-4114-a3a6-5b9a4b14e49d phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e50d9e1-cf58-4366-8f0f-c314606ee72b phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fdc1b05-cbf8-4103-bcfa-886c455d7cba phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3735ee3b-82de-4238-ad44-3de6a750ed48 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:643e475b-03f6-4f9b-ae81-7f74031e89d1 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bc0283f-fbf9-4dcd-b975-f48024b401dc phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5da1ee65-777b-42e7-9b84-d38ac00621c6 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebab00f8-6dbc-45f9-9f89-191fef686d61 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4400c15a-6cab-40b1-86f4-e5942308a403 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b6f0ec9-957d-49bd-8a49-bc350139d422 phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9069b835-69af-4241-b7a4-8ed856f7128b phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37962958 uuid:0dea8e7f-b811-4534-af56-8b8fcbd07d8f phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:31b44f2e-c439-4e4b-b2e8-f95e2dcd2296 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:19e2bd29-736f-4ab4-a1a7-61914ebf521e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:37962958 uuid:84b0343f-213c-4c65-a305-33657103f7ae phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:622b93cf-3a9b-4149-b0ca-f233592b280c phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0ca9f3ee-7a8a-4565-900e-ea91a49b3f39 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8f73c1a7-2c37-4cf3-bc90-2639458c6308 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6e8ac61f-301b-4e78-b13c-96ba1049cb38 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:173fc28f-83bf-4036-b4d8-791e4312f8d3 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ec07ff1f-fc68-4650-8ef5-0f2fe45da039 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:643b6eac-c046-4ae9-9719-f7238bfd9530 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:92eac909-af85-4c72-857b-f8e634f2715b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2acf9e2e-7214-46cb-9f75-f6fb476e2563 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:82dafdda-b78c-4c8d-8d76-9c37d33a4834 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a0dbe51d-cf6a-48de-a254-0ea645d754b8 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b35bca92-46b3-4cd6-a15f-24858f0eab61 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bd71b045-e276-47cb-942f-0b57184dd595 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2d646ab1-bb9e-4bda-8f61-1d570f5c721b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7e57f19e-32e0-4ee0-bc77-cef998019d4d phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:482d66b2-c133-4782-9c34-463dc8939813 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:24be8cc3-9227-4a64-9489-eed83efaf904 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b054b681-1812-48b9-a30f-394f8f9fd931 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8d40d468-ac19-405a-9158-438e1ee96bd3 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:14c33f0a-3e12-4c57-b982-291a1b1806cd phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:15ad5828-2223-4f68-b816-76f42ea0bc1e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8dabf04a-4382-471d-9833-849947ade14a phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8dfd8b32-c0da-4f51-a650-9ee84e0564e2 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39f922d7-8e52-49cf-9d8a-023b44c353d1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6551718a-6860-4683-a9fb-029ebf1f7cba phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10e018fe-4fcd-4cfe-be72-c8d81b03ce65 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eacd011c-e0cf-4c85-9742-a59ea10732fe phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:452bd528-11d6-4b25-8f19-909756b74b9d phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b29745de-b065-4b1e-b180-431e973b2e9d phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3f314b0-1873-4a34-8fbd-e85c69ed51cf phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d37c117-84b4-4b7e-bf89-e9d3634fb82d phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0f699ab-ccf8-4e14-b788-3d4d5599f506 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e604f91-6325-49f3-b500-d78c9cf4f35d phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acdf08aa-a107-428c-b733-e68be4d282c5 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2b5973b-5d37-41c3-ad00-773b631dec0f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd48094c-3047-44c3-b1fa-e9672d6c33b8 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c51210e-d693-4d91-8eb4-8851fc6bc6cd phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35cb1545-2ac8-48dc-955b-0ebc2aadc4d8 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe913289-0c83-473e-a7f1-3c02114d6eb4 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:354fc2ab-24bb-4b33-9797-0f3f45d53f93 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7c96888-3359-4dd8-bc55-39a3c3b14d0a phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a13f8cbb-2d92-49f1-848b-b7338719aeee phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0f47625-fe67-48ab-be89-0fab8665e290 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9803d7ad-5795-4b3e-829c-ec568ff673c7 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b27d5a12-22b5-42b4-a9da-0d82d8d70240 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d28ee3b0-8e11-4972-a1d9-15fd71094110 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:447b2ab5-4d3f-4a2d-8815-8e344fd97bfd phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acf665b5-fca8-464a-a19d-3bcc2e21aa0a phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:002efe8b-b60e-477e-94a2-1e2201c4dce4 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37b03925-5e5f-4c6f-88bf-4c8e1e251428 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08f78701-2d0e-489d-aa6a-df89beb76963 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f02caf7-6706-4e82-a2d8-f21c09ddf109 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00174a8f-33b8-4025-8251-8d4f4c269582 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f21fbdae-c024-484d-b585-3968eb6cde0f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5adc481f-d09f-421f-ba65-bd5a26e054e6 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87f62fc4-e951-4021-b86b-30dc79bb0079 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d6287c2-7b57-4cf3-9d35-ff3f46e9347a phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ddf5f06-69e8-4c02-b85d-de5bc5027649 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be10f469-a7eb-406d-80c7-ea0146dfa364 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98b8765d-b2e9-4e36-9a3f-07ac3f6bb90b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bee9c5a2-62e3-4a0b-a21a-3c9424bdec75 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8badec26-3d0c-4aec-9790-1f682bacd71e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f7e2b7a-d184-45b8-a507-9df5db6b6db7 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abfde7ed-6dea-4d39-bd49-ab811e034c3f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f52bf7a5-5a6a-4922-b2fd-7c3da70c37c1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:597319cd-70af-4359-a907-fe2c6eb4d783 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1636aa1e-29ba-43f9-bf5e-49873bf521f6 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08ac13f6-8175-4f02-a8fd-7362c179e386 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a73d2bf2-95ed-4acc-8547-5267d5590061 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78674cb7-45a7-4144-8b82-e58d0b013572 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ee1d731-8d38-4157-a5bf-1e1d5c9c15f5 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53c23563-714c-4c7e-b76b-155ed182c63c phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3710794a-146c-40a6-a9d0-98128b0a80d6 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44760b58-03f4-4828-95cc-da39cc409765 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2db76400-eafb-4285-85aa-f7de61fb9bf0 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69dc8349-7205-4632-a9fb-6407c7ad6451 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:002a5e3e-883e-43ce-a04d-6a2a578a5792 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18352df9-f738-4fce-9b75-e0cf8df0428a phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f48e0458-dd32-4d96-8172-12f962334e01 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7f3dd63-02e0-4769-9515-1cecb94c96b6 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c7259ab-2744-4a18-ad49-3d8795a39ec5 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c7be415-53f2-4ce6-9478-af1d66d096c0 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eea477f4-b8ff-442a-9fae-cf5c63ae1d76 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b12f90d7-f709-4948-af70-0636d44089dc phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae9697ad-3844-4a2d-a097-b4f47b5074dd phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e59e6b74-eccf-49d3-acee-018d1c2fa04a phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6161acee-8ddf-4b92-8d2d-ea63bb0b3c6e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba867fcf-b40d-4779-8dba-6904d52e2da1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a796c6eb-8814-4612-8763-1ad20c7c385b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efa6ed15-d684-473e-a9fb-c5e03652a700 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66219933-738f-4d36-a2a9-abfb0f8aa713 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6d411d6-6b3b-45a6-bf64-cb5e2d0dfb08 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f13b993-f3da-4f7d-b02f-6610de7c58f7 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d03224f0-aa7d-425d-8be4-e1392b05382b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1a89f90-d8b1-4d7e-9d8d-f93ce6a9d565 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50a408f4-ec41-4ec1-bafe-289bcca3eb6b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ba643a1-7ae1-4dc9-b5d2-bb317f53457b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:425f4991-38a5-40a0-b970-26ba6dece69b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7456fbd3-a1a0-40f8-ab73-826bf17b9be9 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82af342d-12cb-42fd-a42f-1fe4f8722cbd phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f95028f-cb10-4948-8f03-1454587ab234 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8af40f1-d141-4a47-9663-cc94fff56fb4 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45d4b1c0-fa6f-40d5-a50f-a153b936e435 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed1fefd2-3ff2-46d5-9864-71bcc8d7c888 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:311a9eeb-9d26-4abb-9e2e-ff4ab03fb9bd phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebbdb0df-7a37-4105-ac3d-4aa9c6296fc1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3886f55-9080-4896-8580-f655568c27d4 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:215142b5-b685-4da3-93ab-a3f958bf2910 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71112d65-8add-4dd6-9d9e-8c6260a85a98 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8dd27fc7-3529-4c6d-91ee-78dec8e65e8f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51ea7492-d24b-4c8c-8ea3-bdcfb98dc925 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ccc02a3-0aaf-4930-9b02-7b1f98d1c8c1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49919f83-bb81-4d70-b86a-28873b84625f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b9aabbc6-76f0-4a6f-8d93-f34819d6c579 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7bd96405-b162-49ec-8800-387d94fc2353 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b72ea20-14be-49b3-9576-24c356ea9494 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3105630c-bc88-46fe-adea-512bb8fc40d1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6ec0013-119a-40df-b108-8789f4a84edf phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfc79f5e-5576-44f4-93a4-00700367c68e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75ec7fb6-9845-4a86-92ff-94d3847d5fbb phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96fd8d26-56d1-4169-b95a-e08b154f5934 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b78a44ce-ef5a-434b-9348-4fbf6f046226 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8be97fc-5a90-4e40-ad71-cad7c263b13f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a58f3630-28fc-44c3-9130-c25c0d938c86 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d6e799c-85cb-4523-8a34-b83368df699f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c352ff13-fd20-4a2b-815c-8322ef0fee74 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b338fe9b-c950-45a2-bbeb-c01853879863 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e223cee-9c2e-4be9-841d-5d4050db0854 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41fce04f-d25d-4f6e-bc86-ee4e86b251f5 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b00ff1ce-d230-404c-9321-30438e7ec1e1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea846523-f361-44f1-97a5-c3338d8c5932 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8bc7ee9-2e3d-4b94-9061-be2fcb3eb06f phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:147f9d11-0a30-4d33-ba9d-864caf8e2eb5 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88fbda6b-d4a2-4d45-a9a4-e12aeed3de47 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab95fd83-e125-43bc-82f4-84b04cebf519 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c3a0ab2-51d8-49bf-80b7-2800e98ee825 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a220ebd-0242-493f-8aa3-b5375d969e0b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:790b1553-ea21-4e80-b9c3-746ebb8feb06 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2847d6c7-01f6-4312-9aba-733b9342c9c1 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70c33e6a-63e7-4020-bd38-06f47dd985ab phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e6dc817-cfef-43dc-8ef3-b12054d15fa5 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87a2fecf-47ce-487f-a92e-42c97eb26e22 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcc998c3-4ab0-435e-b171-f1828fa03e19 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8eb18290-7161-4260-a228-cfd8755e0b1e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34a91040-d5e9-40eb-bc21-5089f4654ff9 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be96bfee-e09c-4113-8359-82b3f3e6dae3 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:079fdc58-f81d-4a03-a4db-cd5074416de0 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb9d2a16-1210-4262-9e45-ef56a480302b phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1a10969-17ea-42e2-adca-545bd05e5120 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb0f4309-3178-4155-99b9-14cb8b431591 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a039a722-5666-49e2-ae26-87b6545582eb phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79fb1f1d-a72b-4211-929e-1cfa19978031 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebb1b3da-c888-44b6-9c81-1f5e895ee5e8 phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e0ea344-b18d-43ed-9ed4-0a116dde060e phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:37962958 uuid:00abcc64-b500-4bd8-be0e-e5f6bfb7f2cc phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:db3dca94-5434-4916-bb7e-a5875c98ad27 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6d932494-e375-42b4-b087-a7e72e63a409 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ac50293f-03c5-4773-9311-55972543f7ce phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cb80f6eb-0a6b-458a-b52e-eaf1257f9b61 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:076ffd27-755f-4f2b-9dbf-ed8e7f11c4a1 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0e5ecae3-9e73-4c96-8775-bbdf8dc4696d phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a9db1376-ada8-4977-b24e-51cbd63d72d0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:363e8f61-5cab-4f10-ac36-6767c0cd68f7 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e584b459-1586-43e7-83ec-feda4e019a96 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b39e8b31-c469-4a4a-aa4e-9d96cbdcbff8 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1db9f3be-efe5-40bd-9043-6f7cebad89f0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:39d0b291-30f9-422e-99d8-8caa41629d11 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cf131993-8b96-4977-bed2-79688fccb631 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9bc70b6b-8503-4e31-a936-bbda29272de4 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fad8a639-f0e5-430b-9739-a5f29830a591 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:709ddf8c-d61a-474f-bdbc-eb5c5e3171c6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2bbd941c-53d8-4ef3-b2ae-39766991cf16 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:debf5f50-18d5-4c44-899e-d811fbadc662 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9ef6cc2a-d8c0-43a6-9f59-8476fd315ee2 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1675d68b-b3b5-49ae-b569-7f19dd6570ee phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cda39c1e-3951-413d-8341-82f9fbf60df5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5b6f178-a854-4826-9812-63da9c7fff8c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ee39abe-90f7-4b07-918d-90d8ed3ccf9c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c681f62-b2a6-4c79-b286-976b194af220 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ee8cf2e-4b1f-4ef9-8097-cfdfeb25fce6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d36acb14-72d6-42e0-8bbb-f262ae307851 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f323f85-dfef-4fc2-b93d-d53e17e5e7c0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b377d8e8-b9bc-45a2-96ca-5ff101097233 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8807431-79ba-43d7-a7d5-2cadf6aa4504 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5542a241-4c3d-4e75-a088-2c4dab6ad701 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8ba6789-e24a-4f92-97e8-3aec9270a7bf phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85e1d403-ea2b-45e4-809d-74cc50014b06 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07e7518a-268f-406e-9102-3bdf0a8011cf phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:895271ca-9d7d-4b05-8bd1-aa8d7ab80740 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0304c4e-0ab8-441a-96c4-00eb930ccd35 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2acb194d-7b9d-4f47-b122-3cdc1a706b37 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e909255b-6424-4de0-b396-adce0bfc9298 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7e7f7a4-cb04-4cab-935f-b424ad1515e7 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:101ee997-0937-4850-982f-c8ab7953cc4c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32751955-4e5b-45b8-8eb9-6d9bc3fffc3f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9e22452-605c-4143-a0b6-05e6233c2bb1 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2c84fda-251e-464a-96c4-917faed4d9a5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94648484-22c9-457a-9615-6f80a9314cb0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9cd1f09-8523-4cd6-afec-be62e3f14589 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d2bf9c3-ee9e-4997-ad5f-414f047586d0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1325b4e-a22b-4057-843d-29d94b68c9b6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:894004c9-b2aa-4c53-b2cb-6506657cea6a phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8850f1db-aee6-4b0c-961a-11d700ca31e9 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1c3227f-a850-475d-a7e3-b2839775e1e8 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bfdc913-0781-41a0-9562-6be5b08cff06 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08fafab3-eb11-437e-9c3e-c495d0add435 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50294423-bb69-47d8-9e4a-95f8ffab3b7b phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f20b71db-4e7a-4196-84b0-ac1bfc98da9e phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa003536-0c74-4280-a57c-88f99b449b14 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6433dbdb-1d82-41da-811d-ac4b49a0f1c5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24e2481b-f69d-4c18-8f54-cca79ce65c6c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb4f3223-fd49-4c8b-b1e3-bb3134938c1a phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ba11058-66bd-4b3c-901a-9d18dad328aa phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:106fdff5-ad91-4ec1-8c61-87465319d2cd phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53fd257f-19f8-4153-80b0-cc892320eca1 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ef3e518-eac2-49f4-a991-fa13eaf9504b phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43fb6865-20fd-4583-bdf8-b9bb19b1e631 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:263dc390-ba0a-4ee4-84f8-1bd560c1004f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70f86fd3-4d30-4195-8343-5e141d046600 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27da87a7-6260-47de-9d24-53107315234f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39ad9ec0-6c27-4b06-80ea-cc36e9d681da phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d5ab435-8785-459b-bebb-376de14a006f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c6eb219-f4f1-4ce7-b701-52186b0b9428 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:227cd7a6-e858-4205-850c-fd1f3d3c09ba phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f48bb32-81df-4ea6-889d-11dd0d3bd56e phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:570daf7b-60b2-4cf7-b0ea-55e8dff4daa5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f65f3a43-6245-4563-aa1e-34054ae58366 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34c48f0c-6d4f-4fe2-b27b-239ae35a4377 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71c29d24-82ef-45b2-9d62-ea477512818c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b53e85c2-e215-4f12-b323-4b1b588d0823 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51b8cf25-3306-4e5d-803e-4bcc84d9b56c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c96cc961-efad-4752-8b7c-bde94369bd64 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c89e80f-dabe-4dde-b7b2-25ddb51f6475 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ea7b75d-7500-45b2-a0a0-43ef2e0d06de phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:598e222c-ca6d-42c8-afb2-4dc1954c8faf phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ce20406-ee32-4fca-b7f7-cff9833f961e phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21b5fbbd-77bf-41a6-9fe7-5538d872f59c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c2aa19d-6651-4a6c-bde7-9a865b184f7f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:012ace18-51ba-4ea1-9bd3-f88faa6879d1 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04a66a24-2a43-41e3-a821-176be82bace5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74785c2e-e23a-4582-bdba-49b5cc622b76 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9cd86cfc-9451-4b9f-ab31-61afe6c890eb phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:076ea142-5578-403f-8323-439db6c782af phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7e47fb9-0a79-4675-ba46-80525495b8fc phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d516c9b0-fc82-40b8-a6d1-f7358b9b9b6a phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e24e84bd-7f10-4142-9c43-c45deaba4f13 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa48e7ff-35b1-4d28-bb7e-f9b9b2f4dc3b phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7975001-d903-4160-b402-9b1397d63323 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d0d49f6-7c70-405c-b5fb-64eb0048d5f6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9998a1d-e87e-456b-b1f5-87488103e4e2 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4fc5f7c-bdf1-4c89-9538-0b9be750b5b4 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:474029af-0a72-4371-a1b8-7f21dba231e7 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7decfa4-246b-4f15-9ed5-1c936680a477 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5de6abaf-f5c1-4ed4-954e-717db26ce0b5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3f7bfe0-9357-4977-8586-020c08cfc7ab phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04101ab5-fe7e-4a3a-8705-cd8891ffb1c5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9cc904f-f1e2-49af-8a51-fedfc46b5144 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69f91dbf-1e81-4d6c-932e-30e5d58b0ea2 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d77a59cc-5620-480e-9980-59edbcf39d4b phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8998dc3e-7a7c-4c81-b1a3-622792d81153 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da225bc5-b02d-4f20-b7f9-a9725fdece4d phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:735b2fa3-7b92-40c7-9526-de36bf002a10 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d64a71a-5605-461f-9b57-cb0757a421de phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82eb54ba-c641-4d23-8a91-c9f8636c2ff4 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcee4ead-b3c0-4003-bf61-b64bf3b329a7 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aff773c2-be0d-4953-8883-f6684a468c78 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c45c75b8-52bf-4aa5-84ff-c64a0f18eba5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:caea5f4e-3cab-4ea2-8f33-281f7836d482 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca037461-a24e-4466-a397-bb18dcad90cf phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35004bcb-87e1-48c2-a8b4-2ec88215bbb7 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c18f8e50-e794-4867-855a-364a1149b04c phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6636e82f-2b76-4668-9549-26e398999324 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18113b85-0d6e-493b-ba0f-8e5cc2bc4e28 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f88b24e4-44a1-4c85-99db-700edc77fcd0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d378cf48-95fa-4fb5-86d8-7d9f69a6d6dd phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d140b804-75c9-4ad0-b0c3-8c46aa6b4e79 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d7f8fcc-e7f0-488e-ace0-dbbe16b699f7 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61713769-eaeb-48aa-9e0f-3d9462d58057 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77e1e352-36d8-49b9-9c87-ea4afc603ee5 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:923b775c-116b-48e1-a5b4-4467216ca905 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2834eaab-a406-43ca-816d-46e2c4eaf14b phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e92f20ba-25d7-4140-8ada-36321ef35fa6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38c0953d-2fd4-41e5-b032-1a88b67c9f4f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1c1b26e-c64a-452d-995a-319c4dc275c6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eac18d5a-d0c0-425d-882b-05b5a6116393 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a15b289-5444-4096-866e-95c45871ac14 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:091f4fa7-6441-487e-88e1-fe5280cd1094 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8868f4b-7426-4884-88a8-84489430a94d phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9640d42f-b4e2-4534-8a64-a2675bbb4cb3 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8a51726-e279-4977-a2bf-7ef1f9493a4d phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d96d3cb2-8a7f-4aed-8b0f-871581f1a9c6 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48ba1987-c77c-42f6-9c99-37a48b8d2839 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:645185f6-d1f4-4462-9c81-0acb0c52faab phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:870b234b-acda-4b19-a3e2-d728fc6f4192 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86de5130-0c06-43aa-b614-0e3591c2efa4 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4cf3ffea-8784-4c69-a847-1355ae1817ea phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b99e60e0-dd22-4f0b-a098-8a89e4a598fc phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:097bdc4b-4618-478a-9047-b97e3d7d3956 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7712f62f-cfc8-477a-86fd-99c0dc64b87f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b906fb29-faee-4373-b30d-1386e14a1fc8 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a157ae59-9a49-4b3f-b290-9f78fa57a334 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba16bb63-9bf9-460c-989a-33cd28ec8db0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78930293-fea7-42cc-aaeb-effbf71ed8ef phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90548b48-160b-4017-bc51-ab8cebd726ef phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:458e6c16-31b6-479a-b1af-528b8d7ce3c8 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e7f8bbd-9b8d-4a1f-bce2-2f8272890292 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92f42e33-92fb-4499-bf87-2fc1afcf0e3d phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a85a55a-5e4a-4620-bbc7-de711cfc52a2 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83cb733c-d1a1-4d05-913f-d534fe459b0d phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37f80283-adce-4490-9ea2-30e295758960 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49e72f3a-4ba7-4e91-b8e1-bc03d178b4b9 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e133ae9-96cc-4b64-a5b1-1a82bee739e0 phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P1Y2M infores:phenopacket-store PMID:37962958 uuid:ca976293-7a6f-4933-ae01-452740e3312f phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:5870aaae-d82f-48bc-8796-c1ae74e43637 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ecc8329a-aa36-47f0-a1ac-7a26a2563682 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:52600048-682e-43a5-9388-2edb45466197 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6890afaf-1af2-403d-be03-06953bf20d53 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:06f2d571-7a42-4cc8-a3ae-5baafc547bf6 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7fb729e8-4771-4ace-869c-9735386cf7a4 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c53fabb9-b606-4b70-981b-92b3ebd9319e phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7e95aa32-d1d2-43e5-b1a1-a2886237b4d3 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:460089a5-c012-4cd7-87fc-8f8d8a6c0b84 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c0734b9a-72e0-4bd8-960e-ed6008f02e72 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:456ef393-c927-4369-ab58-f27352671ab7 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:99ae961a-9c10-47a1-930f-a6857d0dc966 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:612fed3a-46a0-4b05-b8d5-0912d7a4fb8a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ebc54edb-e52b-403d-b823-8700f358c4f9 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7a18fbec-f2cd-40d5-a5d9-89f5d63341bd phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:923ce9af-8c71-4e3d-a273-85d7350fb68d phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89ba6e85-b5ab-4957-a8b4-6fc7058816a3 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d45af969-0823-4dba-b359-d68b1d7855db phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63910f0b-fe89-456e-889a-4aac3fdc7e75 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a47dc864-c363-448f-bc4c-61052be62d51 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abd8f10b-a17c-44cf-af8c-45576c86006c phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc063ec0-4a14-47af-9316-1e1c6944f434 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85ad585c-ee65-49d1-936a-de0e13551151 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c69064a0-0367-45fe-b0bc-e3566493b594 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d0ecf94-ede6-47b7-b6e2-9eaab0e9c76e phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b59a461-bd09-419a-a771-6180d8dcd40a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:443a4267-74a6-40a0-8782-2e840201ef69 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3804c2fb-ef38-4bfe-8896-588647ba9cac phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87f224de-31a6-4cc0-bd3b-cd38c6a7ee77 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e478dbe-6d4b-42c2-a9a3-5409c3704da0 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d14fbee6-b5d4-4811-b91d-d2f021fc178a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4051a964-2017-4de4-8d24-7bd9d782e135 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f1b8be9-f0a0-4c0b-9952-0d6fe413ca1a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5830393-7d43-4015-9d45-14cae9669ff1 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8b2f8c5-db9c-4c11-a112-9424c0521488 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7205b19f-7483-4d83-9ca9-8efea433bcb4 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d73b263-763f-47d5-b3a0-fcb1da3aea03 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b27225c5-358d-4078-8dcc-5d949f53006e phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2ce3a6f-c2d4-49f9-81c9-64fa32965aac phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e9ef2a4-9224-42ee-aebe-bba2291c5235 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f503d49-a07f-40ca-92ce-8a3fbe35b361 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18422dce-8e01-4955-be67-4d147d02e1c8 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5ca5cc9-1919-4431-979a-fce09c60e3d1 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7bcd938d-c00e-4ea4-b80a-6ba613aae4a9 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:425daa9b-fb6c-4986-8601-5f4c3af4c01d phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38cb91aa-1901-4ace-968e-620938edff5c phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4c3cf5f-6aa1-4fbe-8d49-ffdf8cdc7255 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2338d533-654c-4d42-9f06-423480c418c3 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3775df66-bf46-4f97-9cd4-a6f4a4ff60bb phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9cde4ce3-a52b-4dce-948d-830fb375a724 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4cd4437e-246a-4d0f-8528-b210cba3e913 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d858fee8-05e2-43e6-bf75-19d510f900ce phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5f76e4a-2f40-4741-8f3c-d966591eb886 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09369b90-db16-4c0e-acde-00300cc00fcd phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7da5f8b-003c-46f4-86c4-df737e78cd8d phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:991f11dd-f00b-41a1-aabd-1509d4a53f43 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aad34d3e-fd8c-4cae-b450-2d8a4a3add9c phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b672989-7686-41e0-8007-e52a833bcb6b phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:044e48bb-6a5f-4bd5-89e5-5925b2a88a46 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d475e594-bd1f-455a-ba4d-b30695119af5 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85037c40-bab5-4572-8731-195a592e5b51 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b29b6dbe-164a-4f38-8b88-b483ea473e2f phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98fcb4fa-506c-41d2-88a5-f7eff4969c8a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92fad964-05e2-41a9-ad3b-b254eafaa1a3 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bb3a68e-17dc-4774-a6dd-efb2e8e91af1 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17373e1b-09b8-452c-aa2c-f0bf04461ac9 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:238e3a6e-229f-4cd5-994f-e409fffedf65 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:777fc292-a68a-4709-a56d-72cb3525b716 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fea067c-c04d-4555-a499-6e0f515a4807 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a208286-c6eb-4811-9cfa-eec2b8eeb860 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d4fea14-241f-49e8-8274-fba1cc2da117 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34547078-f50b-4db8-94a1-851bfcfe339f phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d25256d-33f2-469b-8523-56b27ccc9ba7 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:769edd98-09c9-460a-b4a3-42a0239d8122 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5437cb1-a335-431d-8ff5-b5c31d32b6e0 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9723d52d-743f-42ea-b1ca-df4ed6fbab01 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35285f2b-4f61-453c-93d2-38b2187b5915 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76fae04c-4e3d-4d54-9b93-fd9badeda5b9 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c94a2407-4a19-4d8d-ad3d-ce01b75a99d4 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa63da85-2f0e-4e82-8bcc-43dcfae7b17b phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94ab28d4-62e0-4655-a41a-f24bfcc756d7 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0830ad1-4e3d-4bb1-a5ce-d6bf62b4acab phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a22060b-77a6-49f8-9db3-4c5398e4de0f phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a656883-2204-420d-ac09-bda9147c8caf phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f615ff4-38cc-45dd-8729-54a702e587fe phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12a76aa1-e0b5-4e66-b572-ed35684171a0 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09c167c8-93af-429c-96a5-6475d9917907 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c932c84-28d8-495e-87c3-9bbc765e6e82 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a83cc787-9204-4fc3-992b-b9dfa5788b30 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb92ffdb-ef03-4103-a968-35abb887872c phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6280f6c-18af-470d-80c6-c05deb6eb5be phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de70c003-6aea-411a-bf2e-a22eef8035ea phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bac282bb-df90-4814-a276-05fcd423b83c phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15221cb3-9f95-4e1c-9199-511071f4b3dd phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35fe30a9-983b-4e40-a938-6658cb0d59a3 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a173aafe-60eb-4b98-88d1-d00828526f50 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6442f48f-42b8-4200-b4ea-8737414a914a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7f08c02-3c01-4318-9295-d85282f40764 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21c9b04e-a37c-487d-bf56-629fc222c63b phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e51cbbae-6734-473a-90be-4af36149d171 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70f8ca2a-5545-4099-99f7-9db2ed004bf6 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:623dea2c-adc8-439a-b82d-5524dce06756 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90c29a3a-b3af-4f30-b736-c6d3ab73beeb phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:edfa059d-8e9e-470e-a4cc-3b4bc45e3e38 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c3e24cd-1571-4726-9b4e-3d9a50478236 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1b2ef69-54e9-4508-9747-898f024b0d48 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca86a348-519a-4a5f-872d-3fd598044f49 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:319820d1-6d8f-4656-9839-e3dcabd4adf0 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b8754be-5430-4c9d-b796-5ea1970de875 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:521318f0-2c75-4de6-9b7e-c34f447a1a82 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:951b9eba-3628-42f0-be66-d2085c695048 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb20b96e-6c80-4f3f-8b3a-8537a3937077 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61a324cf-781d-4f27-8157-c33ac2c48469 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b36926c-b2ca-40fc-b29f-9ee13907a3fd phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89d699ec-f898-45f8-a831-fbd531802293 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93557ffd-4949-4b29-975a-a4a99e0acc4e phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95274251-7fc1-4d6d-b24d-eda27183f350 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ea73c45-4009-42b0-a8e7-0e7ef79da1f4 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:668dc7ad-a5e4-4c8d-abd5-9b1a5384fb81 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65126e39-f135-4ff8-875c-78ef2ef6c2e6 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5459c859-b6ab-4389-b72f-0912f79b7fcb phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95b0b5fb-f5c8-48a7-8651-ee5612dedbb6 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4122a1b3-55d3-4a65-b736-fa39ec28712a phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2367e1d-60a0-40fa-8eaa-61b7befbbe2d phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8170ba99-66a4-4948-ad39-591560447dd3 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c32021f4-4887-443e-8285-bad17bb1de5b phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0d44b9c-280a-42e6-bb5e-9de64154f13f phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba9b7a8b-a76a-470b-b130-62b5e8cf42b9 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:121ba939-220b-405d-9215-acd1c957051e phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:690ba8b1-1b1e-4e81-978c-6952d19faaf4 phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:02f3aae3-8ca8-440e-9c3f-62365bd43418 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37962958 uuid:7c114357-341c-4070-bee9-6966caea6742 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d6355842-9d5e-40ad-b0b9-04712abe1cc4 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:921ae8f7-1bcc-423f-815c-b2f61639f05f phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:64096bb1-da21-4749-b6aa-531c9b8fa1aa phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:11b4bcb6-ecc5-40ad-8d06-01f37175fc5d phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e5cf0d4c-8b10-4196-86aa-ed8e3d596592 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:664d2b5d-d4fb-41ac-a6df-6ad640540650 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a827a15c-5a2d-4ecb-80b1-b066430f3369 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7661ea83-ec69-4599-a1cf-9d6832f52797 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84a34fba-b2cd-4b4e-965f-b1adddd0fac1 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7dc48439-d8ad-4462-b333-c39b3928be63 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ba157bb-d758-43c0-9b39-295ce37652cc phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27843cd3-0e86-4675-ad8d-dc620f726f01 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e094726f-16c0-4e12-83cd-1faf26002d19 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1fe249a-dcb0-4dce-bbf5-dfca03777f39 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:117a59d2-ef03-42dd-a6b2-e38c406b1d53 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d172014b-7968-4093-971e-6d5f9e51cee9 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f930baf-8c4e-4dcf-8dfb-bd984699557a phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b86ef7d-a0f6-47ec-b9e1-bbfc3d78cfda phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebafddbc-e341-4472-8989-b0dc4c83cc78 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4756ef8c-eb84-42a9-aff7-1c96a19e2495 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8334e067-cae9-4b0d-8218-6a221979d234 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d737257-4034-438f-be6f-66dfdaf3dae1 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ff0f5fb-e5e3-4a14-9bc1-76f91143a9d2 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98e59458-6040-4ec9-a61d-10efe2d7f598 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce3d7fd4-f08f-4c71-9428-7d5893e23ddb phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b77fab32-e79a-4ca1-8c09-11ded7b3c336 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9de4526d-6960-488d-85e5-2b1c547c1d5f phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3019675e-4153-40df-b190-72ba7dfb6497 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8db3d1e-7c98-42c9-8e78-4d97669e2ed5 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b7573ab-6a7a-4e2e-a9b1-e6e5d16cd12e phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15fb0870-9bee-4874-ade1-1c607cc4b801 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e14ba15-7c5d-4ea3-8d7b-929da46b8650 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:551c6492-7363-4e35-9cb2-d3f25d5e1f45 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8c092db-aa7f-4b84-aa34-e6fd093f3856 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce6cfae5-4b2f-4667-ae0c-60a2816dcc13 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f72675a1-4295-4c9e-b93b-ad26f5f18189 phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50fbebaa-51bb-4f99-af2c-71829402b99b phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0d98a9d-ea29-486c-937b-8a80a11590fe phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:bb2feb33-7e51-44bd-bc26-8e4505b3b76d phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:4d79b6ea-ae54-4b7a-88f6-a705cce94828 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4c656053-ac76-4e03-9534-06adb56f06c2 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37962958 uuid:298b132f-9cf7-417f-a9e4-15b55e2db17b phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fccee91b-b2da-4cee-9d24-cbf5817f725a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f4f10124-086c-4d44-92da-a359fda99073 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:70acdd7b-16a9-4f80-8b4e-ad102f349a72 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:358a7c10-d0ae-48f3-972c-bcdb7a18703d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ed83f800-22c4-4246-bc7b-1d196f36b354 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cfee46a7-13fd-4956-8c6f-bfae6c448971 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:edbc1291-45d4-46f7-9f26-2420bf3b4d2f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ba13068-6ce2-4a34-a2f4-51a668d56cd1 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51cdc2fe-68f6-44c6-a9ad-17bc4682c31f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7139a71e-bdd4-4a4c-9070-434d63942d7c phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c35b6dd5-80d9-4a58-ab67-08527ee9e948 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ebeba90-7437-43fe-9c64-e147600e9a06 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8cd40bd9-c474-414e-9749-87c419bbbc1e phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:711af03c-dacc-47a5-8eb2-ec4e2f2a0224 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0d6c983-4eaa-4fd7-9d3b-7c6711a33a6a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:359254e8-f204-4e0e-9be0-08be6ec255b6 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:665525de-5a97-4cac-b080-a86b75ed1e9d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:412c54d9-991d-4cc3-895d-d988a15cbdc0 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:589efa84-315a-4b84-b8c4-b4bc9ef6bed2 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d48273a-9aba-4af7-bab9-f6ef84325b09 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99124ea9-4322-41d8-9e2b-f06e9456b965 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e29acc3-dd92-4c3e-8a26-15fef265ee76 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed91ec0c-c48a-4ccb-a36e-af28ee1dac9d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd5c3c2f-ad33-412f-9558-e79be1409d33 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43b0d97a-a5b6-43b5-8f0e-92182966b5aa phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb9ac96f-7a64-4eb5-a0fa-0313360d2945 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ecb231b-f26e-441e-9d88-5745bf1aa512 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e92885d-ffe2-4675-af9a-5c2367f589e8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be6b6a46-00e2-483a-839a-631037a02ea8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:19437628-0490-4769-882d-f5a6161b0d6f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bbc5bf8d-1f30-4662-bc30-edfdb13409b8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bef49d74-9a11-4f6c-a6c7-a06e3996bd49 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0961d4c1-3102-44fe-9e9c-22d7162e3984 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09cb1826-3730-4dab-9419-9cc2643434a9 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0a5086a-4add-4859-800e-53edc8373605 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a1b9829-2b67-4455-860c-7cddb3db25fa phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:583c0d0e-d2c8-4b9a-99e6-d7946046a298 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb2deef2-09c3-4a3a-ad74-0f3197b60f10 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0da596f2-4a85-46fe-bf71-322ebf4b8077 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e756595-47d9-40ca-947b-24bc739a450c phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d82157f-5aee-469b-bdd2-e5a838f96104 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4ea46d6-9a72-417e-82be-8de1d89de32f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6625d6a3-150b-46bf-98c6-670513c766a5 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46a1f711-7327-4b3a-b4ab-6b96e7493510 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c145276f-356a-4e8c-9dc8-a4491f99dfc8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72f39cfc-17ec-411e-8628-e72fe0efad49 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3298b2c-c656-4b74-af4f-0ea0274842d2 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e749958-93fe-4544-9c37-9677e8cbf5a1 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:746d3d0b-e106-4a37-b281-c383a560ee09 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63a2180f-f861-4e3a-ac6f-7033f1e5e7f5 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08f81683-6bde-41b2-a463-94246520a5d8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:981b88e4-0d30-4f2f-8dd8-37981d3e89c3 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac315758-98cb-4ccb-a78d-a6b89c1a5b4a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9c75b2b-418c-40c5-b240-025e23c938ca phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:552326c9-f1c6-4197-9066-8071bae91650 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c963c265-a255-4430-97be-5eea20080ea5 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd189040-2e87-49c1-8ade-ba971eececb1 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b6e6045-1fad-4171-be5e-2d199c954b12 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:976124bd-130c-4806-bbe1-de30c311e382 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60ec5b26-85e8-4d7c-9a7e-f473a0d9a4be phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cbc0c28-e3df-4afa-8eb7-e7eaded933e6 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efaf0d2f-a1f3-48fc-9cb9-dd2d7c309ab0 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49bd6b59-f206-4c2e-9fbd-39616ae9d59c phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4664263-2904-4a55-a14d-4432c821e463 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:681b542b-2a9d-4e7b-a24e-56134998128a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:030b847c-2380-4f51-8eb8-076650c53331 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3fea4065-df34-4ed8-ba47-b8e3da0c2d3d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:798f13d5-ba46-4e78-bda6-082e047713dd phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acbad6e3-ce26-4e28-9e9a-f9e029063f95 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3aeff73b-8bda-46ac-bdcc-a55580e3e057 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1d86b19-4050-4c2c-9694-6d23e4f09886 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c38cdb09-914d-44a5-9ea9-2c91b7cefcd7 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9675f984-47ee-4981-987f-33a8b87c045a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:204eaecc-5c87-4d38-8299-a0f9379102df phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3f4b99b-59b2-4d14-8aa9-842d3e1a610c phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22b56445-7d4b-4c1c-8a0d-2ba32e2d1b2e phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb7d0aa4-dbe6-4c83-a04d-20e6aa663a3b phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d5a16da-2f6b-4374-937d-50b3ccafeb08 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99586446-a423-4d89-911c-094b9beb7d28 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2cb18a0-4e8e-476c-8ddc-cfb896c28071 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a36a5c0-9819-4fec-a576-d768db34fd36 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82919aa9-58a0-4e76-988a-8e2c899abfd1 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6196560-f814-43e4-84dc-34d1202896ab phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11559ff4-78bb-458e-8494-1b2337605186 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6e7b31b-57eb-4c31-930d-6de1a8f4efb4 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cff18cf8-a894-4cf3-9033-fe64d56de10c phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3dc80f85-b73d-4266-b7f3-8506e7910f1d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0677833-bc93-4d79-b0f2-96acfccc0cc8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:603a5bdb-4d88-4078-af07-0583988b9923 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:937775b4-b3ff-4619-bd04-417787c0626f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fcec9b4c-3f94-41ef-9735-17625150ec49 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:947871ec-d670-43d1-a632-f9ba37b4294d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2663b49-8ca6-49e9-816c-d94d81c5c05a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:203011d3-6317-4781-a3e8-757c97d69126 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97a34a45-2015-4790-bbc3-58974fb8a79f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a383bbd9-c31d-482a-a721-124757019964 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a031bf54-3cd1-43b6-807c-c7947e7ecf9a phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b4079d4-9030-40f2-87a1-bde55e0dec09 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af8c40eb-d136-463a-993c-7e36389ee51e phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bc0e757-a083-4659-ab86-82cd4d880cae phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74506b06-50db-437c-a503-67da2fe8e748 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f4bc9cf-ba48-49af-b082-fc963856d68e phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9540c85-9b6d-4bf0-9ab8-3d08692452ab phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac6db929-e664-4466-a36a-6c40f0f21d85 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:548b641c-9a1e-4d17-b5c3-7f4ae66704b5 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:125f13db-ff22-489b-9a85-c80c79cc669c phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa91a535-8fbe-4402-b659-2e129c95baa6 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d784bc7-6f72-4e4d-bd87-5d7ab5c5569d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:113f5ac6-34f6-4c11-a6a4-6c6e446ff044 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1f4166d-2467-4379-b0e5-9b398124f574 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8186e4b4-08cc-48b9-bde6-77864ab4f3bd phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3dbe430-b128-4bf7-bcb6-4b00e5abcb4f phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ff9a505-357a-4a5a-ba6f-53f089a9d402 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38a19e67-4fcc-4684-89d5-bbffccdf65ca phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12d00f0e-3972-4475-af65-2047232e5c98 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97352cb5-6daa-4ffd-a281-19a63ec69607 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5957800c-2d27-4b60-a401-92e5bd477e72 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d12f74ea-c8f4-4155-b848-8e5589aeb203 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06f3dea3-da47-458d-b6f2-17bfa7b98ee3 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef8b0299-4226-4768-86f3-d0f2327504b3 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dea3efa7-54db-49ed-a349-f916bd5f94ca phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0f6c1db-a6ec-48df-9485-99e8230be90d phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48568035-337f-4f30-b667-5a9fa8a06c94 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8023914-194e-4abe-8dcf-57507f6d7867 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0a64ec0-7572-400a-93b0-e042a48f2d61 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0545c544-e64e-4c34-a803-bb878131a861 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7eb582a-00d1-44f9-b890-a68859699ae7 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a28f68c-8660-4611-8835-41ce4f135d8b phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b8667d0-4b9c-4265-ab47-bb662a2320c9 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6e8d63e-3e89-4fc0-8396-69d1af8f3102 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf13759f-ed2f-42a4-8155-288c326032f8 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96ae2568-d7a9-41f1-ae33-68b17d4b8b08 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aba6881e-1386-4d5c-8ac8-643a2dbd57f3 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a9197c9-34d2-4016-89ce-4c2f521fe103 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2179856e-a7e5-4ee2-a652-33fe449bd109 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c87ef385-6fb6-485d-82ee-07ece4d428bd phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cda513bc-99fc-4b6c-a996-87b9ccd57bdb phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f29e2a78-1bfd-49a1-a807-ec03d3cb1bb2 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77ba85b2-4537-44c3-8d68-f6565b19a01b phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37044bc4-fa2e-469a-9e9a-05eb746c26fd phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b25f7441-27c3-4dfe-bc5a-d8bc81d86df9 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64d3fbf2-aee4-489b-b3cc-1978a03f608b phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:4aa01888-ec17-4875-9fd4-e85deaf15887 phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:470aee5c-4ed0-464b-b354-bf44251fb2f3 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:11fc24b5-d82b-4fde-b0f1-c8c84ea58f2c phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:37962958 uuid:1fe72457-5e98-498b-bd51-ab324f67ada5 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3c21aa19-772e-425f-b5b2-8e190238fa13 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:17499132-a2a8-488b-9167-e35411f41a3f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f6e6a919-fada-4bf9-8f82-920c07690ef6 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c559fb65-e316-4bcf-98a9-a66d8a663fdd phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f78ca086-79fa-47cd-95c7-a2e0c7cedc16 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:376dd4a2-bb33-4bf9-b93c-ec4e015e3151 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1068719e-291d-487e-b2de-d01e5f00b5e2 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bf70a74b-5c35-477c-8116-e7c41648420f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:183b18f4-b424-40e8-85c6-75a59016fa6f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:46ae4933-12a1-4eea-a48b-6b7f0a3741b7 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b71ce964-5f6d-4882-92fc-51be4d15e00a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ca260cc-ea83-4024-95d4-d6bae8556210 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:460a78a3-a547-4e97-9687-b8fa085ffcfa phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf60f70f-91ed-4864-af74-e5e069e31caf phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2345a4a-b25f-4a7a-97e3-fdfbd1287acc phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93e00f16-fc80-42d6-92bb-c5bda2be7d1e phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7333eb0-00e6-469d-8766-7a9d37039270 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ad3e94b-552d-4248-af57-ca7eab414c9a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c735b44b-ed80-4575-8c6e-3359a145ade1 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd10fe27-e075-4353-a7bf-47bab9390e01 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abbac86f-33a3-41ad-8461-53b926ac0360 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9896896b-0e12-4e78-8062-82a7a6aeb6c1 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f3c4856-6731-443f-a436-7f61d320e199 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b0d2d02-31c3-4149-bd56-f110e358d8cb phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a2d57e9-0ddb-4052-9be0-7691eb828790 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef3f1512-cb02-47b7-8674-62253d452960 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b83b3af4-f6c0-4a00-9275-5a124643bbf0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3b36c72-f0d8-41ab-8a23-be0e327e3632 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f22f2158-5d5d-46e8-8078-f838a2eaf656 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b01f2c2a-023b-45fc-af61-d8ff56c0c95f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b8528c0-18e2-4b59-95da-3274db91aa66 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7945f0cb-6e97-469b-a0dc-2f13de578746 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6addcf48-d6cc-476a-bbca-0989beb9afb9 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6cc09e25-6d68-43fd-bd21-65ed46291ccf phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7578399f-85ee-4a3a-a780-aefe6fb536be phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48303b1f-8445-446b-9494-54999edadd6a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e64c73cb-6674-4b53-a4a1-5a4479aad7f9 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9bcab61-a4f8-4906-8a9a-697903b0555b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:162f7b06-20f7-47aa-8a92-16e4474dca0d phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15c2ec4a-5195-415a-993a-b3643fd78ae4 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc72e90e-4360-4fda-b48b-5cab18b26631 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a442d781-d521-416a-895e-21e3e1aac308 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28331641-8e23-45a5-bb30-209844c78477 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:034a31cb-c095-4cb1-9317-5b523f4bd8e2 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8272a65-6473-49fc-adfc-490a7b935604 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bccb9c02-43aa-4c00-a56c-55a2008bc06c phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0c2312d-e858-461b-bbc8-4437a8025480 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db130e5c-2707-4ed3-b587-ed10e4b596eb phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e0b5fcf-22aa-445a-ba81-3a84703a7ae0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0682b934-59a3-4390-afea-22c711997c12 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:142f7e06-6726-4c65-8738-bec4eb6d7585 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb002ec6-28be-458a-91d4-138244ad650a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d748cf6d-3988-44dd-b55b-d958d9dedace phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c73838ce-7f0d-40c0-b84e-43b5f6b07b56 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe100525-9547-4df2-95d3-c196181a8e16 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09dd70fb-406f-403b-a0bc-77c7daeea5dc phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92ca8a4d-c522-4e8e-a78c-428ef8f5ed1b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21c613a0-52b6-458e-a219-bee9ee907560 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8207fcd-97ab-4070-849f-be826ec665dd phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a8dbc7f-94fa-4417-baa9-e321a83e75df phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26d57435-680c-4750-89f7-6b8a65ca87aa phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97c83f60-d1e0-4771-8a69-2de0c9ac31f4 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30c891d7-6c5e-4322-b2a9-ff245a42aea8 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb72347b-891b-4e9e-9185-7499798deeb4 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dde6fe9f-f6fc-4184-8338-5be9b380cc08 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:980810bd-3743-4282-8062-babdd1744b31 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2e8dcb2-e585-4147-b366-5521c8180a4d phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f75b442-7f70-4b88-82fb-acba074ebb66 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa202633-cae8-4e64-9cd0-32ee4ebd2205 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:568cccfa-f20d-47d7-ba05-879a2f391e37 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f0732e7-2c62-4b0a-8157-fc35c899fb1b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8298741-200b-4863-ba9a-7eeb091e748f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbd0b54f-2af4-4e85-bebf-f906aca9f3a9 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41af2b53-a557-43ee-8527-5239ac0e66f2 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74876aad-d297-466a-8625-ace2aedfe3bf phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d696d26-0ff2-412c-b71f-f4539c3aeb5f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72981ffb-172f-49a3-b3c2-2cd846549e86 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57b76ef7-7556-41f6-b32e-5c46ca4ded9c phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48a66cf0-3819-4968-ab62-d09a40e62192 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:600d4d6a-cb7f-487b-98b0-85fd498b374b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21c8530e-3ef7-4923-8efa-77a8631c5454 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e374f5d0-7bac-4fc6-adc5-c1ac6602a031 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d40c274d-d1bf-4bef-bee5-2a37f897b246 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:324e3483-223a-4fdd-a3e4-adf19a25896b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4222626-c596-455f-b6b1-a1cc235ecfaa phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed990515-f899-4768-b1ca-db9d214d811d phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8d3c75e-b1bd-494c-b92d-ccea32432781 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a82d111-c9fd-4ddd-ac06-757d81090bf0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f1e9571-c817-4488-860d-e6fb34b844f0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c22f39b6-676a-4cd9-94b8-8c4d95b66f0b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9606ee6a-0827-422e-963d-cf8e69d5c15c phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9bda912d-233e-475d-b332-c083388af74d phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5059edca-97d2-417a-bf8f-fe3711187138 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41d5c1ab-6307-405e-a2cb-f8b678d650dc phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:416931da-3eb8-4096-8d3f-6e3fcc4dd71e phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7adbea7e-9c53-4d80-b963-378980c5f641 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:daeb6ca5-26b5-4a55-93c6-0c896f284a63 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24daa3f6-080a-4118-97f7-90abb583e692 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fabda230-03f8-45e9-a814-e80e2027f0f3 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:371176c3-e78f-4a8d-9d47-09e2bd3d27d0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eecbeb5e-5d7e-48f3-b7f4-ba84c8d2d39f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea4aeba3-bc5d-4fa1-93a8-6b81be655022 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5218356-2f3a-4114-ba2f-80f3517649d0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4615840a-acd8-4714-b838-e91279142bd9 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:540dfec6-3ccb-4929-b7ca-d4c1b4f77c6f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3e07d32-1f4c-4997-90dd-c63122ed3f13 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c975b6f3-5ad2-4da9-9eae-23ad3639191f phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbb217e9-f3c2-43ee-801e-7d295e58c60b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:402ca34e-9a82-4637-b701-f80af7ac9a3a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad557b93-50a9-4ca1-99bb-5cbcc83a39e7 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:390c0742-18f1-4394-9716-ca9bc693e3c7 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21a6caab-1a20-42e4-80ce-ae7295baed45 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ebd4a9b-a056-4dea-8fdc-d6f29d4095aa phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:504117bd-e094-4b18-a866-90a588905aa6 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5512ec4e-3c41-4ed8-b43d-31ad6c47858e phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ddad84b2-bc57-4457-bd9a-0d88bbed51e7 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5533c5c7-1139-4fca-b918-a73fd8d1e629 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21512baa-7624-40f4-a154-77d6c85c3b2d phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4bc58bf4-c97c-4b1d-a3cd-f7bc690f0e1a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8bcc4161-c3db-4ba3-b7d6-197cdefa0667 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3591403-626e-4c5c-adf4-34c8e3c589f3 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cddfe48e-9123-4337-b0ab-c84db3e12931 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08790f04-31df-4414-9979-a8265ac9fb7a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d3db788-514d-4090-ae01-ed3a424eff63 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51ffe0d7-e979-4eda-8188-d62e1184ff15 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d91495c7-816b-4e38-a040-4c8924a8a3c6 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89a396bb-e055-4e64-a360-8f8c852ff749 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa81236d-4b96-47fb-984f-eaf13fdcaf54 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:877b8ed7-f4b0-452c-9180-be69b25ec9fa phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ee9a6ae-c89b-4988-b600-c04987c46b8b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b19c6215-c267-4b20-942a-8f607b0a3681 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f247eba-f0af-4108-a695-e5f6bbd74966 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ceea15b-c181-43ca-803d-3b89c488e3c2 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29106923-c7bf-4efc-bf34-733f59206bff phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df7db1fa-a84d-434a-8903-1003537af6b8 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f7d2c56-2725-4108-8e16-97b4719783b9 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83cb5f87-123d-421d-a548-dfe356c68b53 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c9590a0c-2d21-4ce5-9764-226503fd6ce2 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcdaf599-c8a2-451a-b1f2-e2ec453b8030 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa7887be-3354-405a-8e89-e833bb288487 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88241900-9a31-404e-b8ae-40323d41dce3 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfa56240-0684-4782-9fcf-cbe2ef73c46b phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2cefbc80-8e77-4926-92be-e14ac571608a phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:327402cd-b60e-4e66-8e3e-89bb432bc7ef phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3770de9a-9370-4e1e-98f7-bbeb6f04f984 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54a40098-50b3-4431-ba44-517c075f41be phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e19a4ead-52a5-4987-8856-363d51937c12 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ec5fb67-8128-4dfb-826e-2b7ee36728eb phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e9aa292-bb3e-4359-85be-24f1ecbdc844 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d9690f8-f4eb-4110-87c4-e33f2f274f06 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa5ca87a-e9f8-4b81-97bd-6115f668a6c5 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:d2658384-2596-47c3-967a-8279d8ce43e0 phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:2f6b76ad-6268-45ce-9b90-bf6a81051f70 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7M infores:phenopacket-store PMID:37962958 uuid:361c3c2d-6538-4665-bbb5-69a1a02e9cd6 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6906be49-8fcd-4d9c-be68-2d88d5756bd1 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6c235e80-57fe-42b8-bb64-3d690a4fdaab phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:50bb4522-546e-4b51-abb3-5af68844818a phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:826e03a3-00f8-45b7-ab60-7f5d8c9a0eda phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8019c828-1877-4735-8e9d-6dc2054bfbad phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4284ff39-0743-42d2-a7aa-543f942f4b4b phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fc120c08-6df7-4ada-94c5-96a56c38683e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cb7778e0-bbed-42b3-933e-1eb0d4be2a99 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cea16dbe-d717-4c5b-81d1-c4d13cea0fe5 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1e640101-ec3f-4112-952c-4c19353575aa phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:13a4b6ba-eeb4-4906-b484-6695361698aa phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4eeefc23-0590-45f5-af4f-47dd3b4e70dc phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:074af981-9e6e-44a3-97ab-a6f7a44826b8 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5c6094d1-5159-4c9a-b0d1-cfec3cd13921 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:68ee9baf-e7e4-4fa3-befe-7cbe1b709ae0 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c0db24a0-2f80-47bd-8bd1-50a8e2f21671 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6216cb46-c2ba-4b29-832d-0640bfdb8207 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a159158b-ab6f-4be3-a090-996a74e83655 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:02a74aa0-7db8-4993-a904-26efab1ab607 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0057326d-5377-4f8d-884e-eef5d9bdd3ab phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4f174919-d391-475a-a5b3-bcf6374d60b3 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:350d218b-465c-4510-8947-bb6eb09e7d9e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ee6e5528-821c-4aea-be48-5cf57771264b phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fd770ef-285d-4fa8-9593-88b2c58a748f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:becc005c-ceff-4dc1-b1fc-5d8e9f8cbbb2 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4deca4d-59a5-4f25-86d3-75414c7a69de phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91828670-e480-44e9-81f6-14138e3f81f5 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a77bac15-b237-43da-a049-d75dd1a24973 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2c70c43-673b-44b3-8b70-3e7ae07f2ce1 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51cacfd5-47f7-49b0-b3ba-200d966854e1 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5b36f50-23c8-475b-b6f8-7a97c31aab0d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ada9656-c184-4931-8d5d-a781b796cf35 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5803c49-987d-4838-a44c-a3715c28b497 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6628d63-c628-4891-863f-4c60853e3c2d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7c02097-4a01-44b1-89b8-35b0e0eb4935 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86c592be-7495-4189-876b-3f14aa2698d2 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f435a22-5a4f-4a26-961f-6142c989804f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef8c6b89-aaba-4102-94f3-f69b9014fd1f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b775740f-2a64-4679-9ddc-ae21e7593762 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46bafc2a-e062-4d21-8320-a9b1046c286e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d53c3cf1-4c0f-4bd6-a5e2-0e7c648ade52 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6609762-4721-4446-b385-eefbe9c9232f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2d0fefe-1a56-4c28-b2b4-0f1ccb57567b phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:867d31a4-442f-4a18-ba10-405befcd26ac phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7fed200-5f6f-451b-b9d7-66531b7155c6 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46588832-9896-430f-846a-018a6df4be80 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15986281-c343-46c9-a41b-179d84f397ac phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0479f6dc-30da-4a19-b50e-ffe08673466f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b67409e7-ca69-41fa-98ab-84b46a29c582 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7af65611-eb97-4713-ab78-db53a3953155 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b41156c-b59f-4081-bdad-bc723172c3ea phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6adbd559-f592-43aa-b5c5-8a57a32f3c5d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c2b67f3-4a22-40fd-b0e5-1ba01d02b2ba phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e2122d6-6b9a-4ed2-9466-42641974c4e6 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a30a8ca6-df0b-45a6-88b0-7a2be21331ab phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46de07dd-c8e8-40f6-81ce-bccdbbd29755 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85f3d67d-944b-49fb-aaae-fabf3a528aeb phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ffedc3d0-d7d2-422c-9870-1c202da7bcf5 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebb27592-a969-4204-b9fc-e43d48361343 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2431f5dd-fff8-4939-be47-399fc8d4dedf phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9331429c-01bf-4111-b5da-0e9a1e613cde phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2471eec-33f6-445d-9d27-aec81cd1c802 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7365d458-697f-45e7-891f-1fd50b0ee40d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a851058-385b-464e-89e8-43c7bd8e0b54 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90b04ced-d282-4ba1-9d52-7fd7a88217c6 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4675e4c2-0210-4ec2-b31b-83fb3b1629fd phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58254af8-ce75-4230-8a0b-3af8efa26b1a phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3efd25a2-b848-4544-8c79-4be4ead42399 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa21007e-c010-47d6-8c08-cba0386e05b6 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0297912-cd7e-4d55-aa8d-d4dc842c0ffe phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d76a3d3d-63c3-4d2e-b346-4758c52993c7 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68f82987-fc6a-406c-95e1-040612238117 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56f045af-a9af-45ef-acbe-061b25f28e77 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b689e69d-234a-4dd9-ad7e-b85964e9991c phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0c0e49c-95bd-4375-bf2f-9f5e223a25b7 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fcc0d227-aac9-4846-854d-68a057a0bf22 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a66583f4-d891-43b3-84d8-afc04793e13a phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb6ffa73-8333-4253-b241-92f61d698462 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea50bcda-c5b3-400f-ac0f-31ecbc3b2c8c phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0db23acd-c109-4235-9a45-370e642ca289 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a644a09-b468-492e-b3c1-b0fa3f3cc540 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9cb5596-7aeb-4e33-9f54-7c2d7e78501a phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55fad406-e41d-4ad6-906c-10e575548161 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0375a6aa-9a26-466b-8e48-808ea991d7ef phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03abe64b-61b8-4a2f-9e94-6c42c0961c7f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:935e4483-4559-43b2-a18f-7333a69ab31d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f41d8dd4-c9fe-48ee-bf41-d3f36c667f8d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c34d2da7-9615-4577-953d-f7606e90d0e8 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:304f5bd9-7385-4684-a067-69fabcb068e7 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f16f89ca-8c5b-47b9-ba2d-40be1d04bc00 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:989d0914-a9b0-4c60-bc6f-979439decff3 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fe70896-93dc-48f1-845c-f1c6300352c5 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f594485a-6cdd-496a-bf0c-1773a27ed413 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5535441b-2e4f-4e5a-9284-97d373579221 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41f6a15b-77cf-43b0-b4c7-dce3cd93d4b1 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7bd5cc3-9dce-4c6b-ba78-1cc8dc9de26d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67279db8-a773-45d4-a0b2-791b21b7f73e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea594580-a59e-4f40-8d06-f8cdef3d2384 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d151fd94-c00d-4430-a0e5-d62ef1dfd052 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3673e068-3866-4bb2-b369-5383f209b1a9 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:614b0870-e990-43ea-8e7a-7844c6f2833f phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c137edd1-45cc-4d6e-adeb-8ea864eb73bd phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da49c932-ea10-4f70-9152-b14bf7ea3951 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e63cbab1-5a34-4402-8b90-3e57f7a2a1b9 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4341c612-47e1-4256-99fc-9f2361e27a6e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57057811-0047-4884-bdd4-103ceef5b83e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2938ea0-243a-4517-964d-55f167fd56ba phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed423414-d5f3-41ff-9611-2f900e4c5438 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57979e62-a34f-4b40-b0de-f9a3b06eaefd phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ddc18b1-ef65-4166-baa5-1e3caa95c2c1 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7b5e89a-f7da-499a-832f-9974b124f235 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c602b6d1-4089-4549-84ea-174867196b5b phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b399922e-9aac-49e4-9f5d-f838332e341d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18714fb5-0ad5-45c0-a54d-dfa526e829f8 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03b4feea-d24a-4da0-a269-080b033ef4ee phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7f7239b-cd59-4bc3-ac48-1c061b60f2bd phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6bc2738-8be0-4b84-8ed3-3981510114f6 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57a0e440-ff9c-480c-8f47-f11baec14818 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d20981c0-60e2-4605-9675-62576086b18c phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9753fe03-6e17-4023-a867-8a711f4ca883 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1518da0a-8a76-4b93-8c00-0ed73a4d8c00 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4768f1f6-2561-4269-a37c-11e8e40427bc phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a2eb493-bb94-466f-b603-6bdd5d6c9cfd phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16ce1d57-8038-44e3-b08c-75a55933d808 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3443d114-c974-4a9d-9126-3d047642220c phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5624353-7abb-4a3d-8cf0-6326c30f9ddf phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37b20f92-1485-4970-99c5-e674a9050936 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36f3ea25-2fe4-4ff3-b4c8-8d9c4f62347c phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:986fa7d4-4a3d-4988-a9f0-f691bd50048d phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f4893ae-dec7-43ee-8aec-c4006de7cf22 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bc59ef3-8617-4a17-819b-a2c2243e0386 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afdc68d5-4371-4f32-895e-c49fe4835684 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01ab5171-e261-401d-85b0-6b47784b40e1 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d4c23fca-ef72-4915-9e1f-572f1062b3e7 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73cfd078-b0ef-499c-939e-765368f229de phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:800ded59-4721-497a-820f-074622ee2af0 phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:fd72fa16-d097-413f-8806-c7bf53a2498e phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:5485ceff-97c6-4051-a120-c279674cd806 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:faaffec1-7c57-42a6-9fe2-a64358750cf0 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dc1e1905-f4f3-480d-ad48-8759cc18064b phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b922e9fb-02b7-40a0-bed9-98d77f4b532f phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b25b0798-af89-48d5-927c-330712a33497 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:45d52fde-8b72-4843-bd06-873590f66ea1 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:77a69bac-61fe-42f0-b7b8-7aef5e942d98 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:07d929a6-d901-4580-8c4f-e5b9490b12c6 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02932d42-0f81-4df8-9b4d-e0fa7bf4c990 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76c18f98-5d9b-4d18-96f1-4657acbb4a0c phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43a2059e-6270-482b-8d35-a879089e8974 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79d523ac-0a33-4366-82a7-a61d9e7ce57a phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2fc275e-3753-48fe-b81f-66cd00d84a08 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04433e44-e3e9-4acf-95a5-c9a740c09f04 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42add4c7-0e26-4ed4-b785-7255a03eb40a phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22055bc5-e0b4-45a2-9bb8-d9a7b8c3fdf6 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4d2ec96-b806-4443-8540-4fb2e314ab8b phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df54f5a7-999a-438c-b9c8-2477626fa789 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df5f4ef0-9f4c-4cce-a5ca-fe710e4f1b1d phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24539d15-8bcd-4c02-97fb-b3e07e1a16e8 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6651d8e8-a5ee-4871-8c2b-41fe8420458e phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06146b2f-f345-4c00-b026-98010b1b9047 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f06cf22-0a25-477f-abbc-f2233fe939fd phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49f71773-3dd6-49df-972e-3eb6f2fccf11 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e8367d0-f493-4ca5-ac19-e123cf80e46c phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b52b1b9-0888-4e3b-935b-018720576d33 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d85559d-affc-4359-ac59-423a6cd1ba3d phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:220fb56a-d92e-453e-8c45-dd26ad1f874f phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44da5c48-3223-47dc-aec8-8a702879b757 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2489c8a8-bd02-4439-82cf-be7b785faf3f phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18841949-17d7-47ab-959f-360da067d39d phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a958466-cdb4-41c7-9de9-01068d87a845 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5bae512-1485-4a09-b5f6-cb219ffab42f phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a9584b8-c5ad-4cb9-a25a-2b1cdab9cc11 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a39e973a-11e7-479d-9b3d-72340a24ae30 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dbaa74cb-8dc2-4fe7-a7ca-7c8763603159 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9364f455-f9f6-486d-884a-d1a2f877a394 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54254009-5fc8-445e-869c-09933557666a phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c717c9d9-ace7-4bf5-85eb-6bb4dad250c5 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b07a703-99c9-4b83-9b74-ae0da8f64787 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1193e506-cc5e-465e-8174-817b17efc8e1 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93f339c8-7055-4326-a028-380f1808b3f6 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab522539-342d-4e55-a3fc-051b2eaed51b phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f94751d-987b-4a6e-8f93-a82ac15f25da phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b8a9e3f-6ba5-4399-980f-ffd15fbef6cd phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86b691c3-7093-409f-abd2-b8c7d005ff21 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65b61186-67ad-4709-9801-02142464f0e1 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bd4a7ad-6e43-4339-913e-548773faf455 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5e308fe-a840-4df7-b2e2-555525f31ecd phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a2be48c-f7db-4180-82d7-cfe40f81a271 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:687b57a7-7471-483d-8439-e6e48dadb1ea phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa977e8d-3d27-4342-b3b7-9978861087e8 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a359508-f886-40c5-ac86-ebff1da20b0f phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b6158fa-bf47-4f18-8945-01bcebb19e1e phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d485a1d8-7f7f-4198-ba74-970ddaff027d phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c98a3d4-93e4-4663-9314-94523a104595 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38e27c62-7af7-443b-99d8-47a08e54608e phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53ad917f-e66c-4d4e-8528-36c047a0f3ec phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43d3fd4c-3a50-4bf8-b4a8-70b944bd98b1 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14a0d968-d8c2-4858-845b-4087c454ed04 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20612fbd-0a50-4de5-98a9-bb8298546a95 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99a41975-2e76-4f3a-85a5-cb026b16cbc1 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88949462-fa50-406b-adb4-777438917b00 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1372520e-13d0-4580-ba56-78576263d2de phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07978c2c-36ce-42e5-a74a-682ced4c29ad phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:150b432c-9b7c-4f4a-8fe7-75b62a9f60b9 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0c15f84-4032-4d1f-966f-7b7510400de9 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3f06c21-4e48-44da-a8ec-e57cdadc62c0 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0adbf9a6-b9c0-44a1-afd0-94433c79932e phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:748b419a-9362-4187-848b-a8dfd1e2a338 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5951daa9-c0ac-4250-aa3c-786b83cbac45 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44b84aab-8ae1-4643-a85e-b7a00fb8bb4a phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc9f3375-7b5e-43a8-ac3c-890b82e92333 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe2cc0a5-5daf-4004-892b-d8b048fbafd4 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27505cdf-fb4b-44a8-877e-a32c394ce8bb phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7705748a-599d-4fb1-95fd-48607ddcdc3d phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25798dde-ed30-438f-8931-5ae022169503 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37b7b303-2e20-4b55-915f-fb173907825b phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:48448073-808e-4433-bc33-f6a319e5178f phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bee28cdf-e504-4b70-b27a-1c897901794b phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04bbc3bb-f967-43b6-8188-b07e604eca44 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69d21de3-8be1-4702-ba71-352472a1fedd phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0a6d823-aaf8-4cb5-a496-f54705ebfbcb phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a19b012-94a5-4311-ba1e-9632c905a265 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3677fb4-8efb-42c4-b7ba-6695063691bd phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35c12e80-06d0-4618-ba70-b8743e3a5ab9 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44584e54-9847-484a-8b62-1301f1092cd8 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:008e6cff-e914-4a95-bd0c-08d8d90b37d7 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52f66117-acd9-407f-8d0c-154c43242598 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a6ade17-2874-4171-ae51-a00fe0e64016 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb1926e6-4c55-4dca-88e6-34cc2ff643b8 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07ffba68-9392-4198-bf03-c27941c732e5 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f77a3f12-8ded-4331-83af-4a4d24f10740 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79e3cc1f-499a-4ba1-a93b-ed7c8361e1be phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6433f835-bab0-4645-8ba7-d483961b311c phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34cfcac2-3f11-456d-adc3-0ab18c8a1bba phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8ebb889-436d-481e-8b9b-1ab7f9917fda phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1aa1033e-1008-43f6-ad6c-d60c6e2e6a12 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62a1a81c-ba4b-486c-8782-62cbfa9fa719 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72eb4b10-52db-45a0-923e-0c26f04ad4c1 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd97cba9-92b8-4760-8783-ec9342937a86 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c085f3c1-684e-465f-82a3-197fa4c3f08a phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b35d53fb-5931-4e64-bb67-52652a709cc4 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:332568fc-3fb3-4a5f-9f11-c8c1703d6637 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a8fac9b-ae9e-49e0-9357-17e7efbec6b6 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4ee2d1a-f0bc-4aad-92b4-08e6e7b72ac4 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2bde3bd-13ad-4908-b5bf-790476531dff phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ed85e5c-a8a6-4ab4-8de1-832f54aca2be phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c17e7dbb-7395-4ff5-9c02-3afe4c5c01c5 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af0b4f7d-0cab-45bf-9d90-24bf3c00aac8 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e401ed99-bf59-44a3-9504-2f3ba434f1d0 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5462717-acea-4906-937a-4e6793f289fa phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:2ac9b93f-69e7-4519-bcc5-fe1bac1b9596 phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:33b4559d-7971-4b57-adfe-0acb711d07d3 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3748eee6-8352-4cdc-a58d-48fdbaa507d4 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y6M infores:phenopacket-store PMID:37962958 uuid:046c145b-e351-41e3-b020-192eb567c1fc phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:af87489d-9a6f-42d3-8567-f654ce517dd3 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9da11500-7263-4eb9-9169-3bd893ce6eaa phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5330afec-f977-46cd-a996-972ceefab479 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1c98958e-f109-40fd-bf82-192c4bcee8bd phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7a3f09b8-11e1-47a1-9585-a7ceb1ecd61d phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1c7352cd-8fb4-400c-a902-bed1dbc34a14 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a5ffa35b-16f1-4a00-bc3c-8d72de163eb5 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fabaf3fd-7139-4466-ac0f-faf0eba35d15 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2130a0dd-028e-47b1-bb45-20e0859ad782 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:70842f7a-29d8-4187-b06d-daca5bc27694 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b63ca876-6c90-4601-8e5d-379911ebbcff phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8796c20f-674f-427b-ab5f-c85e83805008 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c1c1af41-dcbf-4c9a-aa97-6e6d5d93f870 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:690354f1-006c-40af-ae55-915513527fd2 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:42feabe9-ee4e-4b38-9e4e-9bf2bd7ba16b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2e5d9c3d-1467-4fed-9c9b-1037d031baa7 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3b9b432f-9c7e-4761-ad1b-9ec26275a228 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fd4e8c5-19af-42ef-9a50-0ee51d294077 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc3d2da5-5672-4574-82f6-887105f7e78d phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:112c1e3b-2261-4410-8a1a-36dea616d991 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0215071d-cc5f-4307-883c-6caa6f1eea63 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03dde5ca-4213-45a9-aaba-290b845d7961 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe452c12-d8d9-474c-afe8-e5ae35e20dc0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c125ed41-31cc-4fa8-945d-df8b7b7b2143 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0da99abc-cc25-4a1e-ac88-0e8515d54f77 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:935e9a4c-84c3-4aa0-b32a-d5661b868a5c phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d283ed21-e674-4824-a576-589faf5211f0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:759f3cd6-9221-4bd4-807a-af11e60525bf phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04385337-f150-4354-829f-10c7aab7acb6 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3d1a610-388b-45cf-b272-4621704d4822 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b55ed46-c50e-425e-908d-e147be9ead8f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1a0b3fc-9b6c-4ca2-a031-8b5cb99298ac phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52c3a142-ca66-45f4-9c81-0380dd67ae68 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb8996df-634e-4d5b-b00c-6e42a7faefda phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2168be8f-d09d-4f17-b3e4-c0d03d3b21c8 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd63b530-eca6-47ad-9656-05cd695fde5e phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc4f5080-b007-4660-9676-970ad978f422 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:056fc923-64e1-4683-970b-c37918e78a7c phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2093f95-eeff-4e83-9ae2-39e3f5baeb05 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:500adbab-791b-487b-8064-bc2d5f15a296 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09f0d441-f768-44ba-a12e-a4e853e581af phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:020d164a-8846-4e64-bb8c-396e94b239bc phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cf71d95-648f-4808-b57b-d8e87d7d287b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:141a12ba-7f53-4a55-889c-c5b734970538 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:900b54dc-f784-47e1-9d9a-fe5eec7a9cca phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4283e5f6-bc91-44a1-9225-ae2d7bfa9788 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fdbaf1a-b114-4040-96d1-e622961b43c3 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3eb873c2-27db-4bab-8f68-712bdc303015 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1921981-3c1b-4f7b-a6e5-ea377f80053f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cca613ec-b2a4-46f3-9d30-40e7734e029a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:180d5585-2f05-40b3-945a-a4b89ed23d3d phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:505a83d2-1d2d-4c41-97ec-b5a864c2fa48 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ecb96a2-ba77-40f7-b9f4-597d28d62a26 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f823aa4-5d13-44e0-a7a7-bc82cc8a3fb1 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed0eee9d-918b-4a0a-9f99-827c790fbc0e phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fbb2ab4-2cc4-4a2f-ab31-9502747a5683 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1a3b8c8-549b-4f95-8fe7-2ef4910e6cc3 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3275367d-c1e0-4fe7-a89d-9d906ba4b58d phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32fa8314-ca70-4e1b-81c5-ac62520d8067 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c12803ed-701a-430a-a1d3-c94dc688062f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21df7174-6371-47eb-9aea-16935022abb0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53c8fad3-c70b-43bb-97d2-af0f27661ff9 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c15819e8-24ec-44f4-b623-e05c879e0516 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17781c8b-8f75-4062-8b31-8b3306fb20a5 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7d56c42-cf2b-42d9-b6c1-11667bf0bc56 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec1c73a6-63f0-4b2e-bf77-ac3123aae18a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61ee1b8b-7487-473c-8763-c9d3ddad54ec phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a8d03ba-94dc-4d2a-9205-9a131c929c6b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5d9cdfa-0651-40ad-8028-6242213d6f9b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b438b565-9e7c-40f8-a4ab-c710bfe9e8fd phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:214ebca4-0184-4466-ae8e-b05b5b41d3f8 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2df86476-e4fe-4e03-a6ca-10332beb5efb phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d83b5370-8e9f-4b66-8c8c-3f7696e24516 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02ad6c7c-bc87-4378-a58b-825234d7727a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb6b8ec6-ef0a-48e6-a09d-8e7f18e739e8 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c16bcd7c-dc05-4d73-8561-c851cb36af4b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31a9729c-38ac-4431-b71f-7c0110a4bf0b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a93f344b-7f39-4a1d-a005-b7561bdfe3ce phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fd28c85-d6c1-4435-805a-fb22b939b64f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1344bde9-3118-49f6-82e5-cdae3b3aafa3 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b7a5e1a-42b5-4096-9f43-5a54b5d70d10 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc44bbd2-ed19-4675-8ac6-5073f3ca0114 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3dade0b-c671-454f-9102-e63b35553005 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e889c3da-3b13-4c92-9f17-8cf110690ce1 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3728f289-3b79-48db-8e96-f4cdef57af18 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e8408ae-bdba-4f62-b645-a6d6b6894213 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6151af3d-20bb-4732-9ee7-5aa6b35a26dc phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:103ff795-e1ba-46aa-bc07-aa513af526cc phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b5c6dcb-1a21-4a68-a697-2dbd8ef298a1 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4842904d-d11b-4ccf-815e-cb268fff2b50 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9a02553-42a1-4c3e-aa6c-63d576178a1a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4bafef5e-6162-482f-80b5-2f31e841636a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8247c275-130e-4633-beaf-7cdabc6aed8f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47b87b45-f0f3-4d35-b70e-53dfd0d3f98e phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e805c625-03e5-4aba-a7c7-64cd158687b0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efbaec8b-428d-410a-884a-a2f4f4963bb0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07c43b46-c2e0-416c-aa51-487d7696b093 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a67a5fd-d8ab-4e63-8379-5bae9218a085 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0bd849a-581c-4949-9f06-ceb8caca70d7 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b31b7ad6-e6a4-4cf8-97a7-f941b2318e6e phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7c80b33-6473-4e71-8d7d-1ff1ba70f828 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1f080d0-21e8-4dcf-9d4b-c8124a879e27 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:580c3442-15e0-4eae-b043-3217f12564ba phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:443c11a2-919e-4445-a249-8a800dd86c5e phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c418c59-f8be-431f-bb10-770c0035f75b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8026153d-ecff-45c0-937b-c621d47eeb56 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bdf9c98-01bb-4db6-95e5-e90fa2300c72 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e64c125-4006-4c3d-a331-59d5f763f4eb phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:251fbff4-f4f8-4111-bdba-2e29a14ef46f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1f9a85f-836d-4e63-813f-b2f7273a6142 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22b094fa-1e58-46fd-b7b1-bf6f0d4aabcb phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fd6a2341-fb05-442b-a832-0c9edc730818 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23203b6b-a1bd-4376-b2d7-1853cfc6d63c phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0b5ec9a-99e9-4273-a8bd-21d4cbfd2504 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab412a0c-eda8-443a-9c51-4cfa08f1c27b phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35c412af-b386-49f4-bc56-89b80e58aae0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a7175e0-cef2-462f-905f-a997369e9751 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d586f4c7-9cca-4f53-ab9c-1293919d41e5 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b3edcb2-b639-47c2-bea2-344a0a55ad61 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73679b7a-f344-4352-bd9f-a7cd4a70ffb8 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3fa1915e-c717-4975-853f-67894244cc4f phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0df1fd72-10ac-4fb3-91f0-114ac22903ff phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a61ca8c2-1d2f-4988-af2d-c48123970508 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b127a85-eb12-43fd-a309-4e3140fde934 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47f32e38-ef51-4dc1-b1e3-c0a25971766d phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68958fa4-1fcd-4b23-8735-866f2b318c7d phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4bc16d28-57fd-4d3b-aad9-c2cc1d9346e6 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cb1a2bd-29f3-46c7-ba42-570d1f6a3037 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:130a40bf-b10e-4102-acfc-3ea7e1311d64 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae16f8e4-4c8c-4244-a285-98b066a7679a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93e94504-7fb4-437c-964e-47dfde5898ff phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0349401f-2e87-4e32-9b5d-540ce10b22e3 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81fee539-570a-4215-b633-aa32be26a99c phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be71b2fd-b0df-48b5-8a52-18b3b4620222 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b38f2e6c-5657-40f6-9e68-cf20f98d349c phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73386118-9faa-4995-ad2e-10520218df35 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a07e5db8-e213-4457-b562-8a85ffbb23ee phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ff183f9-e5e6-4122-b2b2-e74287c7fe66 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3618eb2-93e7-4cff-ae71-a10e5802a50a phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17b93b78-36e4-41b2-88a6-8790e1373337 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cdb93dcd-ec8b-44e4-a35d-b76e4cd241d8 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ecb650c-c559-45a0-8051-c6ffa7ae02e4 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f701ee6c-942f-41c4-914d-03ffb3355d28 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69f8dd06-a899-4b39-8a69-b6253772c031 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abf1cbb8-3371-46ca-8f56-cfe1b21e09ad phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a12ad605-6771-4b9a-8f43-fc6e262c99b8 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:37962958 uuid:02723759-51ed-4d7c-a84f-a85c158b95e0 phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:64c85d2c-2eb7-434b-ab02-08376ce84375 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b6192e90-499b-4ae4-829f-e3a1aefe4bdb phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37962958 uuid:47946d1c-175b-4f57-ac15-635d32090f9c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3caee8f9-cc7c-45a2-aef4-9315abffa22a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f44e82a5-5b2b-4637-aba4-d5ee6498f397 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b04de288-ea19-4546-8d4e-ea651973b2c9 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a148cc9-26fc-4862-af01-205601aeb429 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:49db24eb-36e0-4d2f-971e-cb4c78725aeb phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f9602c8c-dd3a-4bb8-8363-c0b66a4335da phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3ba02115-e8f4-4915-8fc1-f11d155cae63 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fa5e72de-f158-4959-96d6-5703f2d49dc6 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8cc53a7a-2543-4f89-8f94-4ea019abd38a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8e4899f-5266-4438-acbb-d7ae21b2f42c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0ff06aa-e880-4a96-8141-804a9da5c5f2 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36612d64-50dc-4812-a26b-fd9d27bd5444 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:574b4cd3-2db8-44b5-a472-e4e2aa8b18ed phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc22ffbd-3788-4ffd-8fbb-8eb1cffd7665 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a09d5e81-0cf6-4e89-a37c-88d1beab948a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cef5a5f-e43d-452b-93ea-e75b74ead159 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:730a25b1-bb69-493d-b41c-eeb1903783c2 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c62b15fc-39ef-445a-8533-180dcc237a71 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:981f2d9b-78c9-40a7-bf04-87feaadd8f4d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eaaa99c5-113f-40a5-bce0-f7b4010aa4f3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bf50ad7-bfae-4494-b043-b72cf9105cb2 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:063dc306-f7c3-4814-a2a7-012ea9a13c01 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4a80215-0f2a-4bb8-a19e-85bf01dc5680 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:385eb1da-6ba4-484e-af9a-6d98fbb77403 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89a7589a-8a46-4afa-8ea0-11e3b8c54c2a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:128cd4f6-a2f2-42c2-b076-983a6045bf9b phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ade7e3bb-7697-443e-902a-6ffc0d2da072 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6051953-ead3-4d9c-b079-1501ed4f3089 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c22d9a94-7e29-4b8d-81d8-516845686ff5 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eee1dd6a-733d-4503-a7cb-f5c11b5e78fc phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0ce0186-6331-47af-bba1-e4152de5fc2b phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0921b8c5-24a6-479d-b0fd-ccee5fc9db10 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:596d5748-2099-4324-8705-be308f326428 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2c8eb92-4f87-4506-a749-7fd0ccb8c759 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45577471-4410-40cd-add1-f122edbd16cb phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6cd0516-6592-4849-ac1d-00cff2d6e9cb phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82fad714-5ea6-4059-bf29-55f6b4588ac3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac49dc06-661d-496c-802c-124684586765 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4a073e7-bea3-4e96-9db9-16c7b19d6368 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0430e47-4ecb-4d55-b424-ec7507d7754b phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ff579be-f273-4172-8e21-ce567950afd0 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f185c21b-a84f-41c9-a503-39f64bdca9ae phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5a516cb-7fb1-44d9-ac0e-eb3d2e62dd42 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a50ff2e-bbe9-4e8a-ab33-573e1720a882 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81842bf9-e8fa-4158-8eb0-a9b45af76ad0 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d49c4e16-4b22-4b06-9cd6-f83c7da5af73 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b2c6ba7-c6f2-436c-b787-abda74d6618b phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8ea9cc5-19e3-41d5-bb12-b6fcee71be69 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b5d5b49-8625-476e-951e-7bd65eb7bb4d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69d4d104-4f1e-43de-a87f-ded94332beac phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7abd6872-c4a6-48c5-b9ae-ec36e58dce84 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0c2181f-1ca6-4b0f-a4bb-515fc42f83f9 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:618007ae-402b-455b-a847-491c53fd7a99 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95b9454f-3a9f-4e4c-aae7-f77e1aad8805 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8931b05b-dfd1-4acc-b3d1-5d98f9a9069e phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4159c498-7051-4c37-8c80-a874dcba82fa phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e9b7b2e-eda2-4d5c-bf16-1fc3656bf0b9 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08e95581-86a0-4e80-a6b3-9d76aef2c081 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e73f39fd-741d-4137-a734-f4bce573e655 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0be7f22f-cd24-4fc2-bcb2-47f5b554247c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afc8d0b3-15a2-489c-9255-7993d61dc0e1 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f466db91-92bc-421a-8038-8c5a034054f5 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1639c9fd-f7ac-4fbd-81ba-8270628d3b33 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5202dcb4-1428-4df2-9a35-f2bcb4896e7f phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6e99e3b-bb28-4e0b-9ad0-4a8c805e5749 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:302224f5-57ac-451d-babd-020a2c516f9a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bad57755-be8c-429e-895b-0e73073fa9db phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9eb78c47-8ac4-4455-b028-c7cfa36de49f phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9aa8e75a-9bdb-4c63-a7f7-542395531fc9 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:716bf9a5-bacf-4180-a9e2-80d83ccdc682 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3b2b573-0ba2-4281-87b7-d0872d08723f phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dbfead04-41b7-402f-8d10-97c1ac42bb7d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6ec8aa3-9e28-42a2-9031-d32fb107f914 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:babf3be2-b417-4407-a9f6-e7e3b5f525ea phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e2b0170-721f-4730-95af-afb52af7e182 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a007067-fafe-46c0-af16-daefedfc06a6 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50698cc4-62b9-4d27-ae62-8982685b62c8 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed75f759-1e40-493a-a0de-02f692abf8cb phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bb8d680-4f14-47c4-b1f9-68afd2ad5d2a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:823ab8b5-9582-4e28-ac77-7bfdbe71cf2a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea93f498-679c-49d2-9bbd-c409f7e4e283 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9a22b7a-8b41-4e30-83e7-e71924a8f390 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79537fd3-8028-4a2c-905b-dd1dcd0b5d0c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a894a29-1dea-4775-9f98-9032168a29f2 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:877fb83f-ffea-40d5-aff7-8437bff7a194 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1a7b8fc-b5d6-44aa-bd95-ae1af45c373e phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7aec220f-73b2-4377-a53c-183f0c5148a3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aaa3966b-0a66-4d38-b69a-d02eb782733d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4376b26-4a26-4764-8580-ceb3c029e0f3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04e4e8cb-8a0d-4571-9733-f9dcadbe1a2d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f26bbb9a-bf97-4c23-9fdb-6e1637510006 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7d96319-e21a-4f4f-b55e-ef3c21feedc3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7edf590c-320d-425e-8328-982ad5dc1bbe phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:357a971d-e4e4-44c7-b9e5-b6f1c80b0650 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46192aeb-08d7-46b8-958c-9c41e0dc9b34 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2754d01-f68b-4ee8-9bac-7fd3d73ddf70 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c42cce0a-289f-4cec-8509-af64354504ba phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14a2f014-c0f2-4cf0-bb61-2d255d0bbb36 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:649d0265-4019-4f8c-9304-7c96cb68f801 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b49f1ec-d320-460c-a2cb-be30136ad702 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9268c97d-4081-46a4-94fd-147c7b063e85 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:077821c7-f467-481d-be68-96d6fcd120aa phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b396fdd-e6df-4167-b078-c2f138de95a2 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:967c71b8-d578-4635-8c6c-860307f07c6c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2fe289b6-e503-4299-bab0-34920b8d37ae phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3ba811a-42f2-429f-8f20-a82d652b4397 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37782962-6261-45db-a457-084ebf213590 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1360953-69f9-47a4-924b-dceccab1d88f phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c789aa7-5b8d-42bb-8116-3af97f2e6500 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f26a81a0-7e68-4629-b2e8-90356b7dc381 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:effd5c87-b536-4f40-a2d7-8b145b1bc614 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:796b5141-8435-427b-b066-b6d205ebe854 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d46f452-e530-40e6-9a31-2359be77b159 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6d9ef99-eca4-48db-8cc1-42c5755c220d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcb45736-67cf-495e-b9dd-16a4e8bd4c2d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d38692c-4d7d-4dca-b3d7-41b2159229b7 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c10e52f-fbb3-416e-bacd-06d2cd55d81f phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:506fa48b-4e22-4ba1-bbb6-34d20b90807e phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31dcd795-a5e3-42f1-b5c5-f22002de3048 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0703c79f-be68-43de-9782-2488fc64c635 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d91c179-de4c-40cf-93d7-c37bb256e5ac phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4b6e2bb-c2d8-4678-accd-dbe7f454998d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0bdab47-8369-4bf8-b92c-b9afc04ff95c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ecd8b92-7ca8-460d-8c18-803da3d2a1c5 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0fa15f5-ed49-4cb8-ab51-560c020130f6 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c125ebd-6a7a-42ea-a3a5-d376477a76f6 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d4372b3-a043-4eb0-bec9-0e1e840cc421 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:881fc6e2-da48-4a63-9196-61e01cb408ec phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cffb12b2-6656-4489-9b01-43e5c5a9ae84 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:becce182-e1aa-4d47-b80d-78d8ed3137f0 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:114c966d-8e6d-43f8-9fef-4824c0f33e66 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3b26382-d676-47cc-b076-0e1ced1d902c phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d17253d-99e7-45cb-baf7-7bf639e6b4ef phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e0442b5-8518-452e-baec-90fd954656f6 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f41a337-e86b-420f-a051-454152df059e phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf580c96-4996-49e2-9702-5f8132f16ab6 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f85e1c06-de5d-4b10-ad76-f5e20e129a5f phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a713ecf0-cdbb-4244-aecc-1a746cddc7ad phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a948a496-c2bd-4b56-ab3e-dc98f4962800 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cb8b4fb-55fe-490a-addd-4d368245f624 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61851c8c-471e-4516-b5db-640a63f9b5f7 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88c45963-ce68-44c8-89c2-d81609378a4a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39df19d4-c905-4982-869c-eb1bc3ffe7e3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33da29be-a4d3-4ecd-99ce-d8b8b67b4f42 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8bf5ff1d-0d64-4e5f-b18a-813bb872b690 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f63e972a-bc02-43fb-bb90-8007408e200d phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f5ee326-a82d-44d4-acb3-5e9f03146fb3 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df15f5fb-129d-473e-b5d9-f279af420c24 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4636f42-0761-4aaf-989a-c045f843470a phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:deb3d876-e070-4a73-8639-1348cfd3ca7b phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37962958 uuid:77ad26b0-bbcc-4c3e-a9f9-99baedba5555 phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:33d16fb4-22b4-41a9-a5e1-5dc1541e9fb4 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4aa7c7af-e196-4cbb-91d6-56b4d18deee3 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4d23a849-31c2-45dc-a766-05f6457b45bb phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a84e4268-adf5-41dc-8faa-0c7da0d245a7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e0b97696-c307-40d9-bed3-181d3e369721 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d6907644-8360-4e1d-b9fd-7f7bbba51b02 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:77bbe25c-10ec-4ccf-b6de-f6d245624380 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c2d7ac4c-eea0-408b-800e-9773ce4d034f phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8f55db09-ea9d-42a9-a092-634ba1141afb phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d495d583-969d-438d-878d-85cf3dc63f3d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a72b7e8-25b6-4140-9374-ae5b0a4c16f1 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:18f90bf3-0324-46b1-95e2-6571aaaf406c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:25bf34e3-3cd1-4fba-9fc0-e961983c13fd phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:70257293-7f3b-423f-b63c-51050026639a phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:43665fea-ef6f-4acf-9820-ecce373001c9 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:51ff3b2b-24fe-4d67-bec6-98f988a306fa phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a5d06f5c-3e6b-4ca6-aedb-38a9979a5263 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e4ebc560-7cea-45a5-9ae4-7c505948cf57 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d592745f-8f91-4fb1-86ef-344933de9061 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ccecf714-1003-43d9-a3c5-cd4d3ea5da9e phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0629bd34-77bd-46df-834f-b10464c89940 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a61504a-ce11-4ffd-8256-a4c2de8139e7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0f318a96-c798-4ea8-8e43-7f2617973b1d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:041c94f4-8fa0-42eb-a1a8-0ad467f28ea7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9a33d169-4d69-4d19-9519-c345b5cffe8b phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b173a67f-7ac6-435c-b803-286e57ab178c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e83e45b7-5628-44af-b9c2-9fa9abfb685d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f93cbc33-f9ab-4f3d-9afd-b7c97cc676d9 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:646b9ee8-8704-4723-81f9-46fca2b971a2 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33cd1a4c-2329-492b-b299-961d96c2a6f4 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5691c8f9-1ea9-4c40-bbad-0929dfa06aac phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:142616ef-35b9-409e-afce-51a3d1c2d7c8 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c91fb33-b15c-4ce5-8c5f-6e93189ada16 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71362fb3-c181-4dd5-9027-355dc346f7b1 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39154134-f3b2-4ca2-8b35-1f28ef4852ae phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e518990c-ade9-4fbc-81ae-2b172fb7df61 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec9469de-2845-46e8-807d-c70b8b389956 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:950aa4d0-56b8-4119-be06-9a00de7fda19 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80998beb-a7c0-46f4-b9c3-9289f2e92a15 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54d93f6d-2ce7-44da-9a6a-d6503db164a8 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73ff3a1c-5041-484c-a50e-4deb3c653f94 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9fd07376-1d8a-41ad-b7b2-36baaf58ed91 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:239e6022-7ae5-4db6-b475-067cbd5accef phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86881fde-339a-4d81-90c6-1cd868e5c9ec phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7669498-bda0-4b77-a898-0d4af5e9f9c0 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4e01de7-24f2-412b-a106-1edd6427a207 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43a5856d-53e1-49ea-acdf-ceb307714e85 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33b8b96b-d3b1-45a4-a9a1-3859776bd5f7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0290c5e1-03d1-4432-a7e5-3ce8fd71470c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f224a52-01e4-4bfa-b68c-4a617d74092d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22b80f8d-8ffe-4159-971f-b2844c1c548b phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52dcaa33-c58f-48d7-b734-3a3c27405d1c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12816024-75c3-45b4-a364-615caebc4bbc phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8225c33e-9a3e-4ae9-bc85-1aecdf653ece phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3937694d-4a86-416a-a319-84e5d5bd10b9 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d893777-b2cd-4633-9820-5e1fd426b922 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4648536d-7532-44cd-b63c-7c621fca3186 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d8c7f3f-a932-4113-a732-57aee2ce1af6 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77ae053b-822b-4023-9b65-dadd101d36a0 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2de4a93-d9bc-44ea-aa6f-c3f6fce19973 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b61643d-e5b2-404f-8b97-ddf1672b82bc phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acfd527a-522a-4fd1-bae4-1c5fe7d57169 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c81dfb0-8a10-4ce6-b527-8d5077e591df phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88ed6bde-48d3-4e66-88dc-dd959b1a11eb phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3dd3d8ac-90f0-44a1-9e3b-acde7fe1313d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d69f2983-7025-4cb9-8deb-936d45539d3f phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fef1d02b-9b82-44ee-a537-caf32ec88c5a phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8919490-4eef-4133-969c-89177f2817dd phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:edd929b6-92ca-4b3c-aa68-26c5f860a561 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ec1c8ad-9851-4e05-9a00-794ce629123f phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8caa6090-bc26-4dd3-af60-e4576613dcec phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4f99bac-89f0-4319-8f8c-abe04157dc23 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a4d1db9-7438-4d5a-9421-aec6f96ac569 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0d81d52-ff50-4379-bd59-2a8d862a33c3 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09c958f2-f28b-492c-ad0c-fc8a2d687843 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8f3cdd4-42e7-4cae-98b0-c3cac70a5574 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bf96195-34d4-4cf4-bb1c-c7129da9061c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc49b5e0-1054-4e90-ad6d-101858e822de phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a96902b-ca40-43e3-bcbd-1634d9dd7884 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a961ff23-92d6-4672-abc4-51837f8116d6 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae745425-e957-4027-82a1-5fc22cafe41b phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:083de732-63be-4e08-a747-9a02d3326515 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7544534-4d8f-4e5a-afd6-4fbd398d3261 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dec1404c-87e9-4382-9235-4ea7e8226d4e phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:124abb4f-5b21-4328-9013-d3efd3281294 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d008d91f-36dc-4744-acde-f832a6104f9c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ecc166a-f629-4af6-a790-5a32c41780bc phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df8d710f-f161-4e1c-bb5e-cd0a77ac730c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9024f184-89db-40d2-a89b-5e65109e0dcd phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cd56bde-d026-4ba9-91c2-b96c6394642c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9fbbdf33-6c75-4ed9-802e-41b17437c0a2 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9bc81cb-cfba-4f72-be1f-2704941ae3b7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:387bd8d4-400c-46c0-94e3-8285dfc36c37 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1333f22-cbd8-477c-b396-81580fe63014 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2229399-a403-4ecc-9e3c-559920d8ce64 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b888b8e-896a-4582-85ca-55f3ffe67a37 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21efead4-392c-4bff-896d-89662255feff phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a45676d-1a3e-4bc1-8177-bf64acae648b phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:147577ac-30cf-41fd-a143-7ab9b2249374 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fd08e574-a6ee-40c7-87e9-fb9a6b882d05 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45a8e7f3-fff1-4724-ade0-99765f3b756b phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf63aa8c-4e67-4f27-add7-db405e94d843 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9999f20b-3a5b-4fbc-8bb5-846414ecf1e7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:878360ec-294d-4ef2-a94d-2538ba90f6a6 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05bb6a26-32df-45ce-9d9c-c3f02aeb0ec1 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2354ba37-fe17-438e-862e-b578b8383808 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b308b0a-53e3-4e60-9162-bb5a43177492 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:960f8db3-41ab-46a9-a154-cb760fbb9efe phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64e288f7-f66c-4eeb-a87a-d43f6951e86a phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2627303-9b38-4cc3-b959-69cd5b662012 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:612428f6-b0cf-4fd8-9412-4190d40b38a0 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43ebfaab-8387-4029-9aae-19611de2220d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f618206-ac3f-4bd8-960a-ff8d4ea0e8ba phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51397c0a-cb87-4b00-822b-16a7ada8f128 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a9c052a-fc90-48b8-9b62-096d46c9ec9b phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1dd0c064-222a-4b53-abac-80efe51e53cb phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26dceb48-9bf5-445d-b6ed-e046b1d103a3 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bee87ef0-e150-4ea2-8cd4-c92246087bb7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25e623f9-9f66-4c74-bfd8-efab1b70f35d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c6ad051-0735-481b-8dc9-6a699db0401f phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8751df7-12a3-41a5-b760-dd0d1df640c4 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:deec15f9-7cf2-4ab7-9697-3da5fac666b7 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8381c15d-ff11-4a6e-80e3-aff091316bbe phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6483469e-1de2-4265-9711-9bfd413cee78 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2248ee4b-2c15-440d-b0e8-4f1eb7400f35 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f021ae7-37fc-4066-a8d9-5c619c94c2aa phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f580c810-ef65-41ce-a871-8fec4392b5c2 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd78b671-c565-4c62-a5a1-3fea300b37bb phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cbb9def-741e-4436-82d1-ef72dfaea569 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c2253f5-6b0f-4c0d-8312-e47ac8e34d99 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb11a82c-6809-4b9f-b220-608b021da333 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85115538-7acf-4dd2-8928-43c5110ec582 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c4e6ae4-0392-41e4-a908-a5a95a759061 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2af5ae1b-fbd2-47be-a9f7-a1b2e516c830 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98fc174a-3d87-49fa-8cb6-c7e854f7cb8a phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2fd319f-b6c2-4e26-aa49-758128ef40af phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de7fa5d7-4e4f-4148-8796-39f0c378b211 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1153fc3-5163-435f-877e-5c0222da11ab phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ba773a7-162a-4a33-aad8-a9f4abe76cbd phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29a19bef-2d4f-47e7-90d3-d1b4b12dd4d2 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4a23e09-75df-4865-b2df-4b2eaf8bacfe phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e873c98b-b484-4d4c-8ad1-5220054ec663 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a2696cc-13d8-47c2-a0f9-447457e351de phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12323cd2-3194-4202-9cb3-d91cf332a70c phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa63d2cc-7d9a-47b9-820e-1afe34820725 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ddcc92e-4f66-4a28-a80b-0dc7890dd7b5 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03832769-179a-48ae-a355-1718c10cd033 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe5b43b6-0688-4815-90b1-6f061127a648 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de28f910-2160-4a00-95f4-ef5556626921 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8438596c-6b7c-42bc-9f7d-164eeb9bd98d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f8b3af0-6b28-4436-9035-8f433610a5bd phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4184efff-2ddc-42ac-aa6b-e39e9c943986 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:672be5bc-3681-4f3d-9f36-c7f0d3a55a3d phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b2d9fe4-8ccd-4043-ade9-3e2c3db5729a phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b7ee1f1-4fa6-4243-b2db-73e1d9fb1045 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9fabe1bf-db5c-487f-a025-acf0d6914918 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f301a6c-6137-4fdf-bd97-03a617392069 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e28efe32-7030-4569-b574-275c0a367d9a phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78872487-71a2-4748-9046-b4d9c7990ae2 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b301176f-07eb-401a-b765-1c4dea526219 phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:407f3abe-d482-4e11-a5c8-a798b796f4dc phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:25b6f524-6992-4332-ae61-f66413562fee phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1b9953b0-99f6-4cbd-a61f-06b2dfc4a050 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b4ca1ca2-b2a5-408e-b4c7-c31e2edbf1a3 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1d576843-71f3-4802-9dd5-86fb86ae84d0 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4782e761-0c8e-4898-821d-a6496620f6e1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5f8b5b14-7789-4991-8609-c33f7fa4e061 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c0c83d57-ec3c-4021-b277-9481d8cb9047 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:72ae3a32-4de8-4250-80d9-fc64e1928ff3 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1f3656b4-6760-4fc9-955d-096ef8d04cda phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7680b8e2-11c8-4e0d-9fd3-df28aae5ed9b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a3889948-eb26-4e30-8aef-b6b866838eb0 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c0d01939-92fe-4a48-a119-fc926d838aea phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9ad11312-f93b-40d5-b7d7-965501fd5cfb phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:239f30dd-9362-4a0e-8546-f639f1a1a59a phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:00233f8c-066d-4275-993c-07506370d3d1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b7c3bb43-a8f7-4bfa-bd6a-46a3be8ab8d2 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e952d01a-cfb9-47b0-814b-e5b67c55d04c phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a1f9095-69e4-482e-b8ae-62b1159bcd1f phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:762b85f2-1387-4c60-8708-67c949376a70 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcf0c1fc-4215-4938-9b44-b23c271ad2ba phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e100a51-34f2-43af-be62-909aef8f19d9 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5a6c1fd-0ba4-4075-93d5-ffb2db4b6377 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5329474-5621-43d7-a5d8-0b1714e37fba phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:061217b4-2b3b-4855-95d7-05c8dedf74c6 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f75d1b5-44e9-4214-bccd-f420139e25c0 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a07f5043-440a-4814-85f5-f77aef0884c2 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3de14ebd-5b77-4cac-884f-5ba412840c17 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c14561b2-6fe6-4efa-8e64-7a39b123eed5 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f383a49a-7514-4753-8ad4-739472c0d114 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a5e01ba-1fe2-4e6a-ac0d-eb6ec0a864e7 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7fb2984-99db-48fc-9cd6-94d7778a297b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2862376-32b8-493c-8f53-0323638cde43 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa718bf8-0711-435c-aa8b-63822069e020 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc877711-a10d-4f23-adf6-c90781d7d5f3 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da868db9-2eac-455d-a91e-575aaef99040 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d751fd7a-6bcb-4131-8b44-5ea3bdf0382e phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d2d9746-4674-4aad-b280-6653e9a43754 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d2b7a4d-1cf3-496b-81b4-2ecff404822c phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f6ecf7f-9d21-42c1-a57b-e0feac4e7f99 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6948886-8fd3-4044-a5f7-12777b8936ed phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:faf27960-8feb-4837-b29c-6b405a91126a phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c3feab1-84d5-439a-aa37-ca1e50688419 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8afba629-df37-46a6-8adc-45fbc007ee0f phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:997fe3f2-1828-4f9e-b67c-fc2bd3d33a17 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8ac7754-16a8-472f-a859-5483154490b8 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c63dfb72-6c24-4492-ab68-5686bb743450 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e331eec-4631-45a0-a78a-c3fbcf2cd9bf phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:923451ba-4b79-4b8c-b164-df95e2e0c854 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d208d50-3803-4053-b005-f913bcac8175 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76d34e9a-6bed-4141-a8fc-46d408853697 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e6238c2-1d50-4b81-872c-3fe481ce297a phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06e3a728-ed17-47e6-b954-0252feab4ce1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f094ce1-78ef-4f3e-8343-81063345e227 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4890124-9122-48e7-8696-f3dfe3c515af phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52a4a155-924c-4a20-a4ee-97a87fb210f9 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f14d91e-647a-4a9b-a236-ce656663eed4 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50805b22-ee35-4bc7-b7a1-f7c622d5f830 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc2c2571-06ff-4500-ae30-ccce67f4d007 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f58367d-6ea8-4932-a56d-4776a522c743 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f2b2684-8220-4aa8-b35e-7a03ffddb133 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b219c942-b6e2-447a-b261-96757e632ecb phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c32f222e-2595-4a5d-b115-b4b61a914709 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f4b4e06-7ef7-4b2b-a022-977fce968f7e phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bffc84ac-d4a3-479a-b234-46a159fde46e phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bca8640-9939-4d9f-9869-1cf6f3fdfba1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28e678be-1118-4074-9b71-a64792c13aa7 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:151582ff-749d-4bba-818f-677e0268ad83 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a2db88c-a8e0-4137-a153-dffc75c1013a phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b76b538a-a8dc-4db7-baab-d3c9755e6c64 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6150299-4930-481b-b470-93746bc97c96 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b34b6d0-514a-44eb-a457-4af7d5d2ec79 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e951da6-b4fc-468e-91c7-6dec9e44e62b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17ed69a8-7ab9-4f30-8a9c-b57211503280 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0eb4ab77-ff3c-4ba3-a32d-581a18d23124 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a0f16b9-09f7-4384-af22-a16ca2b10f30 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41fccc6d-e2fc-4dfa-aec6-58731625852a phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e849acae-ec89-4508-b577-7e97b1b9fe26 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee838f1c-6292-4297-89f8-3cd6bc2d9460 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:414e8f00-2e42-44c8-9d72-3964e13ac6ac phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee6120a3-d490-446c-b265-488fc9787d0e phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7866f0aa-8558-461f-9c1a-58902a4100b7 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c1dbd1d-c14f-4cfb-b803-595d100da4a0 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ae03320-677a-4d22-ae12-ad1319dec6e1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2e6f894-fbd1-4a9f-aa64-290044c4638e phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4e74b44-8edd-483e-a6e6-874a5265b2b3 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7607a630-5bc2-461e-b0cd-5480d2cb7e76 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d93e976-9462-41d0-b633-fa640fc04d87 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9197d0e1-aacd-4918-b6c9-fc26521451dc phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6d8c002-43d7-433c-89a9-b886127d3c28 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a33cfa68-7bd7-41aa-8386-d6f196168765 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e246e96-e600-424d-9543-ce8be3d68d94 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f323b061-68a4-477b-b8b3-da7628c39dee phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c136ce77-b8d9-495e-af1b-425195904eb2 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01157642-adea-4917-8774-763c4f07e40b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0da61dd8-c778-4493-a4cd-590be028edfa phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47956dc1-93a6-43f2-8f70-d0ea63c54fa9 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c0bfe68-8a7d-4939-bc6d-3baaa52a0998 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58f6eed3-56fd-476c-b0ba-96f4a6572140 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb548a66-0c99-4a7a-b0d7-b0f5e87936f7 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30c0bf7a-8620-4c95-a20c-284e0939cfc5 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:058343cd-1537-4731-a0ae-c38230554935 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5332d34f-f6f1-4b20-810d-37e2a66a0ba7 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0f7799f-69a5-426f-ba9b-e91d15afd8a3 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f610c346-ed46-4f1b-9621-3c53bd8c3f5c phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e515a886-438a-45ca-b465-6475adeab03c phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1ce2047-ee9f-48fc-bd65-06a8675010cf phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:222ec277-8b2f-49af-8dd8-341ed618013c phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e312bef0-3772-45cd-8284-0616d3524dc5 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2970d2df-7220-4a54-8552-4237cd7a77f8 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:838e4a40-2a50-45fc-ba72-a19372e03dd1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7beaab69-4f7b-4161-a92c-f8c088ba0dfe phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00546618-9df0-4776-9dd0-bf29375bc507 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09a4b7be-732e-4685-b0df-9b4ce5514402 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9602adb5-60bd-4111-9c4f-60d04a163824 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ed032dc-76c1-4bfd-a1f8-b5f68b9b3a52 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e21756b4-9464-47d1-999b-e67541c15765 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:968a1a53-8ebe-46fe-b88e-b421c0ec9be9 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce7249b3-78f0-4dc6-853e-4de6768ac95b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78e0cdb6-8272-4dc6-b72d-9701a3c8cc99 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4f68d39-e9de-4798-b18c-952c5d4e7a88 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42f142ea-09bc-4bef-887d-cc022003b3da phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34d5cad3-4565-476b-b7d1-1e432171099d phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad14d3ef-5b45-4899-9284-c8fa7b53e8d1 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80a87c9c-dd0c-4980-8930-82d5a1d1ff74 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2867b52e-c879-4bae-ba61-a7b30bf82729 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86d7b3a4-1419-4efa-aeba-74c32a08d488 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9957129-df49-47b7-a063-2409b6a3e4d6 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b34a8c0-44d7-4187-b506-df8593243aec phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6174e0a0-6025-470d-b380-d2221cadb5bb phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70816ed2-38bc-4371-8603-f00354d97253 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1fd8e84b-d17f-4e24-8bca-3e83bc0e065d phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4081dad6-99df-4e1a-a902-fd1ca17fd024 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:279cfc92-3dcc-4746-874d-30bc3c9b8b96 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1005532-0514-413b-88ee-12a82f9f7b8b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e963b76-150f-4850-80b7-339e4071b1ba phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1396dc17-beb5-451e-85ef-f6bad66dd28c phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbd1cdd3-2307-4143-b033-0275cf7f368a phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:983f6c04-8a86-4921-92f7-0f3c472062af phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a2b154f-82b6-471d-b6c5-24a4b930e190 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7738a970-acdd-4aef-be5c-4652478e9043 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f368f50f-23a8-43c3-af0d-4029e3c1e41d phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a673109-14ee-464a-8cb0-a125c9b71546 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0bdd840-e89e-4f18-ad41-6d89bc0a804b phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a808d6e4-0623-407c-9cea-e3e2ab1e2c21 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7ee15a8-3783-41ab-80b1-85718b372f64 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf147dd0-1e07-4e30-8b21-4115d05939d4 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2394b17-91a8-44d6-9983-c8dd99418854 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fde6cf8-4e7b-4ba7-ab5a-540b3fbb99eb phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b71f687-956c-4526-a269-13ca4c61d1d9 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b80d83e-215f-43b7-b081-6eb235424303 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2d6999b-bce9-4132-aa39-12045f8abb83 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbcf2aba-4ddc-458a-9002-5cdf4b6944ca phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2613131-cb06-4043-bec3-f8ac4589175f phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0498c7d5-f65e-4932-8510-2c7674e78df3 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:ec71c77c-3e23-478b-b09a-9d0639c1eaa4 phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:11cdbd75-e5a6-488e-9b40-ae849fb33343 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:37962958 uuid:97fac18d-34c2-4c79-a586-6d6bb58585fb phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5297ecd9-b114-4e1a-a5e2-048d185cbf41 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cdfc1a71-38a9-4a03-9676-7cee72b5dfd0 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:01208fe0-7b0d-4cc9-9b7b-31e6ba0253a7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e3d52cfa-733f-4ccb-bc0a-a3b5a0563a36 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dd27db40-4b5a-47d7-8495-43da02ec9e1a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ea8192ee-a3e6-415d-8a56-760d04a8f4c4 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9a2f0230-c2e9-461f-ac8a-adb54e437d4e phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2fe7136c-e61e-451b-af70-e1aceed69b26 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f440e487-f475-477e-9125-a74148010d7d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fa2d5643-edf4-4dc0-851c-93d1e382b520 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4f98b248-7fdd-4955-b302-89765eb70033 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6cb23b41-827e-49a8-bd3d-46efb348a32f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5b65746e-3104-4c80-b8bf-c2db8ffab384 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f9608743-7f61-4f2d-8c56-1463d5d311e7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fd20cba1-becb-4031-8b8d-09141dd369c2 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d16180f4-2c68-4da9-8a5b-8c9042ca389b phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90333c40-817e-4201-84ea-e5732160b098 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4699573-95aa-4b66-affe-70af5a6d2efe phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d50a082f-2265-4fa7-8e57-c072c44b558c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8aa5fb35-85c3-4121-8736-07a2fe862f49 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e5d1e314-aac2-41c9-8e81-d89ec6dedf55 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08a1e6f4-a0a4-4dbc-8c7d-8d8d794d572f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00644fc6-723b-4d85-be6c-dc2eb82fd486 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3099be2d-d604-4181-9cac-757b3aea504c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa729b6a-5d88-4fa6-81a4-a87230a196a6 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3310952a-410c-4d7f-8fbe-09675f18f8d9 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:44695b27-89d4-4662-bd27-91c2570bd4cd phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c131c86f-4d7c-4222-948a-bca7d03a9340 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4b20c63-30fe-464a-9826-8878203f9e46 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca3bee5e-0b50-488b-9cf1-4c504b1747f5 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85e14381-59bc-416f-b7b7-c15e5c457288 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a38620b-4987-472b-89e7-341892a57f70 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17610eec-42aa-4441-90ea-c8429ac44aa3 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a887d300-8d7a-48ab-a3ee-e24186e12a44 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b9641f23-7854-4260-b44d-1489ba74be6a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b93079e-f843-4e5f-9c2d-3ae44b334bba phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:133b126b-dfef-4cf2-ad33-95b4ec223418 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04771c47-b5bd-46a9-b0f3-a90abac33bd3 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c915a16-fb79-480a-aceb-dbc962647b7c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5e6e6a3-bac4-44fd-a2dc-263fac6a1ce2 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:594719b8-eece-41b5-9840-b3199afe82a7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57fd75b4-6837-4aeb-9744-a58c581afbae phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75c0a2f6-4a67-4640-98ee-d4ff1712c71c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c43a0a6-3eb5-4dd4-86e0-22a7e3583f42 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13ca1a9e-cf22-4fd6-9742-4264d9ded2eb phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01fa4af5-3fc3-4a91-9b0e-668a171ea519 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:381761a6-5df8-412f-ad27-2bb3bd16ee28 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d03f652-e49c-4b40-beea-1b5e4107eb5e phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dfde40c3-eaad-481b-8a2f-c1ffe0492525 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:296007c5-33e2-4cd9-897c-1b3b5bf1a09b phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3df1125-96d9-4aa0-86ad-4404fb51e33d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eebc7b6d-fb3d-4cc1-a1a4-2ff28d884286 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8a652609-8fdb-406a-9649-8ab90ef1a56c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb5bc9f9-7f4b-42b7-b38f-8d8fb3861c8c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec9e4ee7-cbd0-4334-a6dd-5df49c83477a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7caf31ad-c968-41a8-88e0-96116fc4175d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47b42e28-0bb6-414a-9440-d0bb2bb62d2e phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:506eb762-44fe-41de-9284-60d1ed804b6a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7ef43f0-3180-4d86-ae2a-27a45948d74d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07e22e7f-b9b9-484c-a102-b54fb103ee17 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d9c22ea-eabf-4b77-a20c-df189ae7c305 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6415fb07-5b5e-4697-8a55-2fc9d19c38fe phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7fde53a-aedd-4b1f-8e16-ffc015629e35 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f86dd22f-4e8b-4849-b3b9-9d7ca710d92d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d4f4e91c-77ee-4cf8-bd1a-db1b5e6f731f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e3780ba-5ee7-4e31-a71d-19800881d832 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97aa5204-0abd-41e4-8339-64af59cce8ed phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bfbae5be-67af-47a4-ae29-d28410752a9b phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45b4d487-100f-41d6-a7b8-d6a283faeb11 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37abc857-f017-4edf-b378-eb83f7f9c064 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:949b077b-1238-42f6-bab6-a2f4f4e67120 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03c28bcf-a2eb-4144-9675-90e444ce275f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:231158fc-f9fe-4352-88ed-9bd9e8ebdfa5 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:851cfd78-b9d5-4ea8-9254-a01511862464 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca001a69-beac-42d8-b75f-c1750a7d8ee8 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b84ba75a-9e59-42de-b417-99456e453b87 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:375953c1-6223-465b-a19d-325b58545a41 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49e4ceb4-8ee1-4710-bdbd-3f9e66146381 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f526e82-49fc-4324-a783-fc9c8bd2f93f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00f4cf3a-a197-426d-a7fe-3d5f39b18851 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50394772-5976-43a3-8af2-f7e3cf92b3a0 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c05690e4-13e2-4ef5-bc34-8f80e50f899f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf4a69d6-550a-422b-9f09-e460871e9881 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cba77676-d188-448b-a7ff-b54e7fa8941a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3fb171d2-dffe-4b3d-9daa-5b5177bd198c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbc6e7e7-b3c1-4275-a10e-87e4a819f502 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9010a824-146e-48a2-b07c-075e75e63776 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ff52e3a-6b60-46b2-aaaf-dfcfa973d6f9 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58367ed7-9e8d-413c-8592-40ae24bb4aee phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2792fe1-b902-45fe-bf8c-0f6f6792c9fa phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98eb56e5-5058-4338-a7df-2078d767e79a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:991c7324-ad80-43b6-b8d3-3b726d0f6b6d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa4000d2-2b4b-4788-a3d3-5981155e4b7a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b9492cc-9119-4266-ae25-975fcbe2a7c7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a463b66-4778-46b0-b965-22a3af29a9a6 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a3c95c1-b329-49a2-a7dc-57ff8a81e4d7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:217b5940-e671-457a-83af-7b6d0a1e3442 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0da74486-d5ae-4e29-adb7-390d2dd06786 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af8b9f12-a6ad-44b2-98ba-4e961ef2f1a4 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83a19e47-0519-43b8-bc7b-377d8f282613 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f51022a5-a53f-42f2-bdba-888e100898bf phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d5b4de4-a7ed-4155-8fc8-3f93a9b0b3d0 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0f55b99-5c2b-428c-afed-ea4ae329d62d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ffa4596-35ee-450c-bad5-f290bb07fd31 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d423cf5d-e41f-483e-ba6f-db9b5d641487 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53a6cb7d-fa3d-41d7-a7df-0ee23659ba7f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f035c9a2-bd31-48c2-9fc6-d64550b82af9 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4425831f-9500-4b58-a71e-51a1cdeecb96 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e54fdce-1a21-47e6-9bcc-bc156376193c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cdf62b92-8ce5-473f-b280-ec63de44c6b7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8cfb41fe-bcf4-4f79-a103-94c449f16a40 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b5420cf-207b-430f-95dd-629fd2ac0578 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:344f1e8d-190d-44de-8600-0f1dbdd88b39 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4c60e55-c30d-410c-bfd8-ae05f27fe1cd phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63e34ec7-7d40-456c-848b-000b9b731080 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77a366d8-246d-4332-8053-f2d5957b508d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d644b709-cdae-4051-ba44-b886d4b79a94 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24eb9584-5287-429a-950d-47f1bf4d5d44 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:19098bda-48ee-4239-9480-1ea77852dcd1 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9ca8a00-5c85-4825-88bc-8e58c6b5dc6a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:107bd0e3-d9fe-4cd3-a0b5-2d68b1d64c13 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35e9f155-006d-4330-894d-60e15f7cf28d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c93b0a3b-d9f5-4aec-9b87-f184a42d7fa6 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e11b9d08-f190-4a35-8ce5-f6d76c8a29a2 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:008eefe4-258f-48ad-9723-fa45fd83afdc phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7caf7bad-51de-42cc-ae82-1202efd1a40f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecd7c69c-fed8-4cb1-966e-e5ebad2c603a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a33fbfce-8152-4b91-b9f3-01ccaa6e44a7 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:889eaab6-f6a7-4451-a3f1-7e1a0e9fe0a3 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:714db20e-d0c3-472e-ae4f-ee4215a21ce6 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c128ed63-7569-4b42-a185-9e5548f4b0ea phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7be6522e-2668-4c46-9813-dee4fce500f2 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbd45adf-e67b-4e19-a489-1c78f6080fa0 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c62527c1-201a-4345-9db3-f45ffadb7cd8 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ffadf9a6-b071-4f28-80b8-a94f1bdcf457 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:300c79f0-e69e-4cf2-8718-b8f1f1888f09 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:354f2dd1-fd3d-4ceb-bd36-3a32aa44a7b9 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d44010a-9099-463d-8383-449d62279aa1 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2e46906-dec8-4773-bb40-e4587899dd8d phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:235706fc-ebb8-497e-a1a7-749809c81ca0 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b341836-02bf-4cfd-ad5b-1e16d0ec4e5c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21e73e1d-f682-4db1-bd5a-3778015bdf6e phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4800f55-64ec-4e0f-903d-952770b1a19e phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac26fce0-4974-4958-bf58-c4de86e878da phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b555c41e-5afe-4416-841a-9a502e77f92c phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d9c00ef-9abe-4de0-890b-32ac7ad6978f phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27ab61ac-5870-4218-a731-d0e8a7b31178 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f8d43b6-4e12-47d1-ae14-a0979d45d7c8 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e438567-898d-46eb-bbc5-0f28b73bf0b6 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03427e90-5bb6-4506-8841-875b217a68c5 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:997466b5-6f2a-4cef-bad6-f434a5b73742 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eacca64f-0a24-4c23-8519-70eeec69fc7a phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed995f07-968b-494a-8f8a-e090ca7a462e phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c7256dd-82e0-448e-824a-1d5c2d941c5b phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y6M infores:phenopacket-store PMID:37962958 uuid:0e0f861c-3507-4f97-a0fd-f8be451ee508 phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:b8e33bb2-b7da-419d-9249-7a68e5c36ab2 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bd402d6d-e225-4f92-862a-5e4a940c2894 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:37962958 uuid:4698b173-c6f6-4bdc-bb17-70f36d83cd04 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:356bb9ef-92d1-4e34-ba4e-ea38bdd8770c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1d702200-e3b9-494b-b82c-c737a6769d8d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d558f236-757c-4472-b52d-2df923e547b9 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:58ab4710-4a4b-4da2-9eac-2fbbb113a613 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5aba7a8b-d8a9-4798-b4b3-c52955b30eb5 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8a42097c-4e78-4475-b5f8-15a97f48fc3a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:55e1298c-88ef-40e6-aa0b-516cb7eeddf6 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:92747d52-550c-480d-886d-599023a6b279 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:588067e4-aa2b-4948-b545-ce545a0252e8 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e7bb0e0d-fa4e-4e04-8424-821a5f614936 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f7701ce2-1771-482f-b21b-59888a29e233 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:26195ec9-0e27-41e6-bd30-a0a89538eca8 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:837e2151-e3fa-4d51-92af-15f067e7a4b3 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:275d9f0d-c495-4aeb-920d-08a47918fd21 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0dbdf6fc-d747-4ff8-a0e1-38e076c3464c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ea5d8d2-4d1a-4fc5-bb35-2e697b703e66 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28641bab-a25e-456a-a9b2-b5927c92f408 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:554dfada-d954-4135-9f69-cd8cb576b658 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cbe2496-e98d-4ddd-a226-755b3002952c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78ee25fe-47a9-4d81-93da-abf6f55582ef phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e2b7130-0451-48cd-969d-f081d886ad1b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:022106bd-d53c-481c-83ff-0d7e65ce224a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:edd9c746-d03c-4339-ba9e-62a5e037e881 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b38e4f41-317b-4019-bb94-7c936f9a89a0 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fedf5452-a786-49d6-84de-d9b1f17b9b49 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97c73c11-3487-4163-b8ec-5b04bb55a57a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29fa444d-de1c-4ec2-a048-fc47e3d66956 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1448c71c-f363-4508-9fc0-3ec261bf9325 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f5fa536-8f33-41a4-9f73-f7430bd47a82 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11f749b4-01ac-4da8-83a6-07b9f4c94275 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef3012d5-94eb-42cc-ad1b-f29f4e5d35fb phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05e59f47-0b35-4da0-b977-b4b454c96850 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:523a751b-0b73-42a5-bd9b-f2dd02ad7803 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c779245-9a8e-4ae0-99d0-a110235161ae phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0a6725d-de3c-4d3d-a52a-81cdf4dd5cde phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f8ef53c-09d9-40a9-b81b-f895bed39a76 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59623810-63d0-4516-a84d-d264a4979c9a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de846e04-84b1-43fa-aa46-5d27d3598787 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:879a4b87-c13c-46a3-a363-c7131d28178c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c6b57b1-c453-44fa-8edf-f82499e86051 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:463a2984-31cc-4d4a-b0ee-8d38001be202 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d307693-2d92-4e33-8e0b-f72582d47e5c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af4bc962-0e93-4cf8-a6cc-2f4b573dfeeb phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:660b01ba-e40a-4328-877e-dc654411efc9 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:985bbf37-86b2-49a6-8d78-3d1d0040120c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fe5aac3-e6ca-4a66-adab-ed07f5321d91 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f26280b-dbe9-4877-8357-5506e5f00d63 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7416125-827f-4e1c-b276-b7d05b00bc97 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:845f5acb-dc94-4ad3-981b-7c0db889a6d8 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:469d0a69-2440-4393-8ccd-e79301a001cf phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7047b46-6246-4a5f-a679-af070040fdf9 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7edb72e3-aa6e-4fa1-a075-496d98130a74 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d1148b7-da87-4dc8-9917-40a531f41d24 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de897e44-b6e7-4697-a839-6f3f4490f3ad phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4559b0bc-4e14-425c-821d-6c3e0a05088a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82df0fa2-bd0e-45e7-8571-d86627b54636 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e7555f2-ff6f-494f-a84b-1208a2f34122 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e988a1d-7351-4c75-918d-5ff52b1e2a16 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:544fb435-6298-432b-a641-7bebfc5111c6 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ccf30d80-de1e-460d-9990-ac4c1bef236d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:696caa98-1960-48ce-96cd-3653fe012d4c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2af143af-7a3f-4342-9b54-5b7e13835b23 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60a8aaa8-d2ca-4465-880a-4f09aa740e5c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abd47db1-6af9-4f41-8ab8-425fba7eff86 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7203a48f-83df-4949-bb40-2b506aba63df phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a467adf5-5320-457c-9941-fe75dcba5f21 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db677a97-1a90-499a-b07c-e80df483d3ec phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:019be4ce-9b73-48f7-9d59-23738be8732c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42168a15-c9d6-487b-99b4-4a71cbfe0d00 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d90248f9-8e6a-4ce2-8bbb-1095d7e222f4 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bdc06cd0-f659-46df-9f79-9c8ffd4a784b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e59630f1-9f73-4000-b8bf-7012bd2bd70d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4c0a9df-14d4-4631-9b81-2c7b4be82873 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38a0b41f-db6e-4cbb-b1c6-9e8c88090401 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:065d5613-9e6c-4de8-ad44-a551fa12c58e phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a45d059-17d3-4a59-bc3f-5573960c364c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be58245d-4e4b-4e06-b7fb-508b32cc114b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4602a396-d41c-40b7-aa2f-582a2dd927e1 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0db56e24-eadc-498e-b8a5-eee46f9724ac phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3656059c-8b88-4c17-aa4b-235deaed04af phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78df7a90-1fa7-44e3-a2f0-2418e52cf30d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fca18d8d-beb1-46d2-bac1-6e23c70ea01e phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5de1190c-8569-4441-944a-cd23fa8f235c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7adefa93-344b-47bd-b9c5-15855a84f96c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:704ca9cb-ff46-417f-8aad-9ab73131d35c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c72a2c59-663b-4ab3-8e43-5dee502c0bce phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3cd37578-f4c7-4219-b89e-11fab4f9d75a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4586580-2c5f-46f5-987b-17a1bd9e123e phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4bb5ba5-b356-4d5f-9021-65dfd77c234a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bc40d4f-b2f3-4768-b986-405e5fa8fd65 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:210190fb-c042-4e6d-aacd-03487eacfa88 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:415fff67-9b9b-433c-8957-5bd8574a5ebd phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a5efdad-bd94-48fb-9378-e5c8ec274a94 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ae89ec19-7d18-4b21-88fc-d6f785df16a9 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:954ccfba-74ed-4de6-9e1d-480cb5fa91f2 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be81a3bc-b02b-49f1-a1f7-701479e102da phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ac73e8e-7d77-43b1-ab0e-f3c1de69583f phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c264c779-fba8-4830-9d1c-be6e11783060 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22889269-e534-47d2-8868-0500b6e2f181 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3aedfc4c-5881-4e74-a63e-297c5f642749 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9369ec7e-9981-4f2b-8dbf-2fa398a60a18 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:598c15cc-ac4a-428b-89f2-987b38f0ff0d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b214a5a9-1d44-4020-b297-9bf2529d9ddd phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bddace44-8284-49c6-afdd-6627e532be87 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b3e7a3f8-678a-4e08-8ae3-e49abc4af2da phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ece4a7f6-59ed-435c-9a14-e79d34fbf065 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8376372-7a20-467a-8584-bf95459127c3 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8554e7aa-47b7-416e-a20d-386ab3a0a3c0 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3252552d-c6af-40ab-b9d4-9a7cc7e683ee phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c118dcc-930d-45db-af1c-264b23ad0077 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39904c76-1711-4392-accf-680d8331ad4c phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38326741-dc4d-48ae-a000-f955a227ddb7 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:effd9b5b-fe50-4769-ae00-c232101262c3 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55586701-d914-48f0-ba37-cdf6e10e2140 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8339c25b-9d96-44c6-ad2e-ab77997306a6 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4c3c6f6-3eca-4521-ba3e-09e18f6dd587 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6f0fe927-65e6-457e-a31e-fd2372f9440e phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b700a880-080d-4928-9706-b336b75719e1 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62a4aab3-d5f8-4fea-b787-715c4463d03e phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a20fe4ba-4222-45ff-abe5-490ce57b9cff phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:239d7975-04a6-4d4a-bbcf-faebe613e05b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7d32472-9636-419b-9640-b5ed3c4386d1 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3af63e25-02bc-4ca7-a41c-a106000d77ab phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9c412a2-1178-45c7-b5d6-8c6dbfa1367a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c556b48-45e5-418f-abfb-acb079831571 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3cac8a73-b69f-4f95-a66e-74c10ffc572b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c361851c-8784-4490-87d5-1c3cbab32827 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:022f8110-ca78-4c44-97c2-4fc0d62aa7f9 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41276d06-1d56-437d-819f-16ff61733b32 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a56e9cc4-7a34-4e7a-86fb-ba97df100b33 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:457fb62b-400e-4dc9-883d-0021e67a6421 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7dafc0cb-4840-467f-b21c-71335242e8d7 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73ad2a53-b417-42e9-9ada-17c7e1619ff0 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b16a682-60e8-4cf4-832c-3c1f8bb0735d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fff00aea-c24d-431f-a9b7-7ebd35861a1d phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e495f153-f37b-4705-b39c-4db39d36ef0b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db62480b-ce8b-449a-8e3a-5730942188fb phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63d55daa-e396-425f-b8d2-3d0f82d8e661 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd4d4d95-6249-4d84-9cd7-921f9d4298d0 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c6e67c2-62c7-433b-b6e2-807195c69a0b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e88cf58-92a5-4d76-82aa-dd6488b0b729 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26af65ec-4d62-41b6-83fc-b7e4fa5667ce phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90aaffbc-7f8f-4029-87c3-44eb08a9d837 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5554fba2-96dc-48b1-a608-505905de2274 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aac297a2-1a15-4d7b-a835-b0d5409d496b phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc716eed-06bc-4ac2-93bb-d2a48ae5a9ed phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9af4df04-8df0-4f23-9803-71294cd8f90f phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e784f266-e221-4e69-829d-6beba5d7aa5a phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0bd7c73-bf6e-4cda-b18c-aa159326ee54 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f80608c-ed34-4097-bde8-902541d2bd35 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d3d2094-756b-43a7-ab92-908b2a59c503 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:115e83f0-359d-4a9e-ab56-a9c9c06264d3 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3cf963d1-437a-4a9b-a635-b7c6534e8ba6 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y8M infores:phenopacket-store PMID:37962958 uuid:0a8beb03-4c48-4625-8da7-b542aead3898 phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:9ebe379d-004c-433c-9fe5-f3d82bf260b1 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ec522747-2aa4-4b02-92a5-b1df02d4444b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dd12efec-840f-46f5-aada-8d937f4e8345 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e86bf1a4-5531-41b4-8917-fc68dc842142 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7ee943a5-17a8-434b-8762-5495206e11e0 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9485cef9-3794-4bf1-9d13-5e0d4216db1a phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:df221ff8-9d08-4298-a86c-35016843ba3b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2891b86b-dceb-4553-9de8-4c426c34f143 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e020df2c-f1ed-488a-8733-d0d4a52f0471 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c5189376-e8ba-40f8-99c9-a19a16f83e22 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9bd554c6-1665-4bd1-bdaa-1f7d05a0ffc2 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4ad178bf-7d50-4e10-afb7-bdb42a7bdf17 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b808f415-acb2-49bc-9ac3-b4fb818eff59 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0beb12b4-058e-4f9b-a511-5812e3b965d9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e6976d5a-bb79-46bf-a390-dcbc062865ed phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b4623f55-eed7-4cef-b997-34e8685d7d7d phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c2968585-cea0-4598-a0e4-374491f1fedc phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1dd31bc0-9ccc-470d-a734-9e86376f1f23 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:da82054d-666a-45c2-88b3-bf1733f3d8df phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e17284f7-4aa2-4a2c-97e3-daf4ad96a93e phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5cd77817-243e-4f8c-9267-d1336079b4e9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b2c9ca50-fec4-4a7c-bc5b-921e9a07894a phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:86a4addd-8830-4866-8f71-c62612153939 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e477cef2-3ec1-424e-b5e7-6b303e86b1ea phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a2765ed1-8a62-497c-aa2c-8472638725b3 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:467b2be1-3aad-4dca-a0ff-7e8be5e3bdc4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:029c4f14-d2eb-4d5c-90ce-b0869db02072 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ed45812-80fa-4041-8c26-d5bb988fa7fd phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27669344-fb36-4c97-830e-f9924932a0f8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6cdc006-7875-4f15-8d17-8d2b7184f2e5 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:422a4051-22a0-4701-87cb-ec935c0ba0f8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ee09379-8755-4400-bee3-f6a811cd76eb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b579349f-d60e-4b40-b8f1-65ff90c559c0 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f7bbb01-6b70-4d3f-b001-a271c87c2873 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7ff692a1-4268-486d-bf57-a1f2e9883c15 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28355af7-4a2f-4123-aa4b-1a74759043ff phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d092c60c-8161-479e-a535-45cb51daa7e0 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64790eb8-8f41-47bc-8a6b-6851e5f9660e phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f14be780-67b0-454d-89e0-71b692701327 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:720920e7-1e3d-4cf3-80e1-1e55d107f0e7 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c719e4ed-61e1-47fa-b59e-406536acfa0f phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e26113a-5542-4035-822d-4b02e642bca8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a53faabd-7c49-4062-8ace-9da32e0f1d4a phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bbf087ba-ce16-485a-a91a-315da8c9cea8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b85f4458-7a33-414e-90e7-7b576b15ff36 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e03510d2-861e-4338-8046-6493a880ba3b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afd977b9-2a95-4027-855f-0d172af71228 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c5ec99e-2233-4f01-abfb-d505f7f4a8b9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82334b22-161c-46d7-8f31-8d5053001b57 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c821084-e4e3-4440-b7c2-1efbf0eb9587 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da85c70d-6fd1-4e06-8654-4098055b066e phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22751cb4-09e5-4bdf-a475-3e39440ed9a3 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e66d057b-a194-4204-ad78-46b50bcf5642 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2789a3de-b6d4-41c5-8716-49e8ec9325a3 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9415cc4e-251f-4dc9-9ddc-69ed608a0a18 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:565e3ddb-8e7f-4198-a7e1-6a18a3c3dd90 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77972c67-81ab-4848-9cd6-0bea1fa25ddb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7868c42f-2c22-4a51-b265-bc80860b08fb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7a2c470-717c-43af-9943-afa212bb7b20 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e820d830-fd72-409f-9278-40effbc04222 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8970a9b0-4d59-4827-ad94-7ac69b032d64 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dea2347d-92d6-48a7-b12d-034cb17e7933 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4546be1c-e87d-470a-b595-1e37b74b163b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ada4fc4d-b9a7-45bb-afea-d1bb8e80c0ed phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ecf3101-c2f2-47d6-9dc2-779834a18afb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d07e66a-7c8d-4080-ab8f-be04a70c93d8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e233a131-e171-4564-bbdc-6b4ba587b06e phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c25c4a0-8e1d-43d3-a478-59cdfe914790 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9761d23-b08d-451d-9f68-e5457f23f8e6 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5d9b309-07be-4e90-bc12-f6a00504865c phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba0f7415-8d46-4dc7-b9d9-b35efe3b8de9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4ef13b0-f871-4f75-a068-07b065a16354 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb7bfa74-fe9b-4a31-a6b1-3bac92eb9670 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74af6ad2-2247-422a-ae44-8f20e4ec45b9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ceb37c9-8693-4802-8e4d-4bbdf4a287eb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56a7f8de-ea1d-45ae-86f1-7b3f068b58d4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a335aded-dd59-43e0-8845-735456115ffb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6eb305ad-8898-4fd6-a771-4c64749a05cf phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1bdc875-09c8-4264-8cd2-7edfe5f461b8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01b77445-e92b-4665-aa85-2bfc269f53fd phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0cf7701f-9eea-4b54-bbd1-3fce265a1244 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9396eff3-664d-47a0-871d-c4c58f8ac835 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8179b9f4-4e74-437b-bc2c-92598ad9cd28 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b56b2db1-9f7b-4c1d-80f8-a97e3da7f163 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57247169-7f5d-4500-9d8d-46f17d5b9429 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df4ec133-cf4e-4a53-852f-4df11a437898 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:970fa735-fac0-4741-8a1d-9a334e4ba0ec phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b98d95b2-a297-4398-9bd7-fdbf539d5510 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93867623-6eb9-4755-aca0-f00ceeb7141c phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d8369bf2-e51d-4d20-a63a-2c689dfff455 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17b4222d-ebf4-4851-b0e6-1bebc94f540b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ee50563-6f42-4f97-80e0-de52d823eecb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:608eb18f-a4b4-4eef-a82b-194111ce53fb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cc6d7ff-37c1-4bfa-afd2-952f481454c4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:574e3098-ad6a-46a4-9314-d02b0b36eb9e phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41a1e440-23b0-493d-b969-242dc65fc0c6 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18360eea-eebc-43e7-a473-f905d7137142 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fdc8ea84-cbfd-489f-a57f-ba60740c1a82 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73487d96-f102-4c99-a004-83c280ce28da phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aad85f53-7d99-4c69-8624-e41e30d43a7f phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81b31fc9-4731-43fc-bcf8-6f04cab56b6c phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:accc5df6-e26d-4086-8a68-9331dd2c93c9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:883063a4-c2c0-401f-8d79-f03661b2df8d phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0beaf858-668d-40d9-8575-7ca423d06d95 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00e6e0d0-2d56-4120-8a3d-559b27760ddb phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:915fa361-b203-4a21-b978-c8800185fe60 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13a7bb77-203e-4e84-a32a-0a89c137b5ea phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5bbbed5d-a14b-4c24-950e-15007873752b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6a862c1-817e-44cd-a54e-6bba0a472cd7 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:caf3b92d-085a-497c-9698-d385655eca3c phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25df12e4-a84c-471b-93c4-cd94c79e05bf phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67992143-50c2-4439-b1af-44d5d821d66a phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6074e5d7-8b09-4677-9560-6aa3fdc9c8cd phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbd4ba75-c888-49fd-9f35-a3b2bb56d0aa phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a4806ca-87b8-4288-9ff8-b0adf64e7da9 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfc8d9ca-17b5-421f-9da1-865922f7b644 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:356ae7ee-b0cc-4edd-92dc-dd7b38ae09b7 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21f63f05-264f-4554-87e0-75d29d05beef phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5007643-7cbb-412f-a56e-b6943ec8d4e6 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90b955b7-5e5d-42e3-af9f-c8992b590a4d phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2e6bf89-5da1-4566-9b70-db4bd8d15c42 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f70a9f6b-da8e-4876-8871-24cb1d650219 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb68228a-9f20-4cbf-add3-f117068ebcdc phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56777bf6-f046-47e1-80cb-34e8c2e3405e phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5afd896-4cc0-487c-b9b2-6f2b0edac965 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79ba0977-8a01-4839-9c4f-f89645f79072 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:645cdedb-0a5b-42f2-8bdc-ffbcd32b2977 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13a95717-37c7-49f1-a87f-0f14ca3824b6 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e5bbfec-ae3e-44b4-a652-322ce5e87f71 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08bf0db6-d25c-4c4c-88ab-673101f1aa51 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:40bc6a4f-0e06-4c6f-a8f7-ef238ec0fd93 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4cf79d4-03f8-43e5-9c97-dbc4fc569ad4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89ef38fa-55a9-4e8e-8ebf-43f2d6770220 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2be537f3-042a-4dcf-9ddd-c1b157800665 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eabe8259-9d82-4f0a-9b1b-8b89fa0b8267 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e62cad8-1c6a-4b37-bc82-9e34401fa423 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7768859c-cdea-40e2-a1f5-51e321552275 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:517a5fae-d26a-4003-8cdb-cf18e8ecde29 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34451536-0e4a-4b33-8938-4ea6067a4549 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac0a32ef-8bf6-463b-8080-b0178c7a8cf4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0c21528-ce0d-42cd-ba6e-24dcef430bdd phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c254ae2-1960-415d-97b2-399dca4f6864 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2b1530d-8166-4c0b-9b8a-627b6a486f3b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27028748-ef9b-4f8d-8e44-59b9f9d9957f phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:543e2429-6a16-4de7-80bd-df54eb61d834 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aac4de9f-fb85-4390-8c07-fa1b9bf8f7ae phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:198ded75-78e7-4623-9748-2bd493b1ed46 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5faf0b7c-f89d-44bc-9b55-d413571133f8 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:701b2953-8138-4309-9b4c-56f45d345f10 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da7473e7-0d2d-440c-a57d-55c2ff62ee09 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7df9da27-1216-449a-98e2-7fc8c971f74b phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d11597e0-ef61-4f5a-8322-0130c7faf956 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6860b92d-c333-4c35-ab57-a61602b98496 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59a0ee8f-5d88-4ad8-b992-54613b5d6ee4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d2fe94d-1483-4537-986d-324cd5be6e74 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d597452f-77f2-4104-b1ca-72ef1c35d236 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e239303-eea1-4780-ae3e-df3904bdeab4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88b91529-b4fd-409c-92cf-e6aa953619b1 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bec8d522-2e01-4242-8c72-8a20c0236ae4 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37962958 uuid:2139560b-0706-4205-96c5-841275bbe033 phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:fa5af160-953b-4708-a607-3dec4dfffa18 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:33270dc5-0290-4fc7-baed-bd5cb4e167f9 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1e35197b-5040-408d-bf4e-3670a3dd5e4f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d19a3446-9acd-4748-ae1b-345e1e9d387f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fa1fbd7a-0d94-4395-9c7d-2c342254b8aa phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:531de82c-1c97-4588-9b0f-1dacdb9abab9 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:87536d9f-be26-4907-82d9-398f7bb58f0b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:07b2f226-a554-49a3-ab2f-88ccb6c9bab4 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6efe4a50-269e-4601-a5aa-de1086e596af phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dc70a09d-0a89-4e4d-8ef9-7cb0f0fbcbb7 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b9500ad9-2157-4919-8fa2-7240b3c8a994 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f238fce2-2710-4ffe-8956-50d599471e17 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fe397136-f16a-4636-9f12-6b5615f1cde8 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a3a23f59-4300-4e30-b948-02303a78eb20 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:718c76c2-34b0-4ee5-952d-d60df3bb41de phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1dc12bd7-8a1a-4a8f-9401-6c4343a7febf phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ec5e3477-7298-4fb6-a3db-c8a6cd976359 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:92710dc0-83c4-4737-b94e-bf8bf40e71b2 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a0ebb67-5c8b-4cfb-888a-773b50b6e147 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f9a75d2-ad6d-446a-b7fa-77ae7210e41b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de77c2a4-19a4-4388-9611-4e0599d0dedd phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a298472-51fa-4f35-ab04-947d0eed66fc phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d99186e5-9878-4be3-81e8-68e62d9dd665 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18b8dde9-1f6e-4a41-91bd-61be1f4ae399 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:281ad347-d69c-4fb9-8625-35f8f13c9566 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52869cf3-4680-476e-8131-17e261a33afc phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:646b8181-f58a-4b27-9189-a816a6a02359 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32f7ca8e-31a5-4600-8a2e-0a475260dd39 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4232bff-6e0c-4bea-9e6f-574fe0fc928f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18d0bcfb-d317-4d50-8b60-014492b5d498 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09863ef0-e157-4396-a9b8-3848e50b841e phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd6c9cfe-3290-4c8d-9628-3e9e2fd7e23e phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b58590b0-0897-47d1-bc6c-74af5070efc6 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:289d9d66-6944-48f6-a268-2774860fc772 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ae0b8ca-6d9a-4945-8fb3-d7f649c344e9 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e0c8fab-1055-4f98-a9da-cc140f5f0c1b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c4d5583-f125-4df2-9890-9889a6b963a1 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15747849-004d-4a08-b3a1-1841a96b4711 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab6ccce9-cc84-4965-9d07-3ff9bae6b09f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be3d3eae-932f-4f66-818e-59df7adb4137 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03dad303-024d-46a9-bc61-1d1f11a16449 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12ec4f38-9666-4446-a269-53abd3867835 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd55feaa-f08e-4921-8b6f-d7375af1e03d phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e687acd8-775d-4b9f-815a-e14c26aa50c8 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4987a3cb-9ff4-4afc-8e6e-85965083bb79 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:617b32ea-9f17-4ccf-9dd9-3c976ae0e619 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed1f68c0-eb7f-4fa9-aa1e-1a92d57603b6 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:568b2723-d627-45df-b7e9-8c48724430e1 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cbebe0d-91b4-4ec2-917f-d1f2f14eb926 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b894477-56e0-4c5c-bd47-ff2b26bf5cdc phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:206edc76-5238-4397-9d8b-056f0f66e608 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8cdc2932-2f46-414b-880d-6c5644dd22f7 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e6ce66b-ec58-49e9-9125-1d0afadef5c9 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71670fe3-d4f8-4124-9e17-a5639b1b544f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8460956-022b-4173-9ebe-46decd9bcca3 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ed44a43-d81f-4e57-a5a9-7db278efebcd phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:265febd3-1c93-48ca-9d05-bb37803b6669 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4165471-4097-4206-8585-25d5be0ecb4b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15056942-ed96-422c-8cf5-49d184eb24a5 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:367b7aa8-cd6c-4402-a45d-0029d618fa4b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34efe4f3-d057-46cf-a669-4bf59f8d6421 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:655ccf88-b996-4fcd-961c-7e7de5c8df72 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e21a3ff3-cd6d-4ccf-b4d4-16f9cc856a0f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88b586bc-7990-4270-941a-a672dff4f2df phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1aa2642-e528-4b11-af13-28a4f8b1844b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1663402a-6882-4410-a5cf-cc8232422a7c phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a97d3145-e170-4398-9ba2-7a8c171a0b57 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a58f19a-dd06-4a8a-b079-5ab6c2d5d7ef phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3dc629c-7daa-48a5-bac5-6b2d39a23139 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11d9ba64-2849-4ca4-9b90-88d11e40e6c1 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a809380f-1b17-41e8-b143-e60e97ea3630 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f450429-06e7-4382-96d4-8f84bf6fabc5 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:956b12bc-abba-45e4-ac0e-f38a9aefdbb4 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0b3eb41-f484-447e-a40c-0078ff4a5c93 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ec154e6-5a70-4771-ad33-0644a87df24b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2708f0c2-df5b-489d-9cde-de038e482123 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1bcd5d0-26fc-4e68-bd49-774c2030e8f0 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e91da6b-5ede-44ca-818a-2ceac588b3ab phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84044bcb-d2ee-4379-87c1-233cb712ca69 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39b6e7cd-e8e0-4e27-bdfd-5dab9d45f4e9 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03e5bc2c-2a50-4ff2-8f68-889418122e35 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bca97898-2d84-40e1-bbc2-9b45e00a7029 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7aeb9672-17ca-47a0-9c3f-4ce62c8cf845 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b337932-4d8e-469d-a2b9-69f3552f457e phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac8997c7-c4bb-4880-a399-0361af91df16 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88cb6401-8389-4e04-95c2-22404c534e77 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5798d5f-e641-48a2-90b9-82385400f3a1 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0bb90fe-57bb-43c0-98e3-7ee69c097b27 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d71e8c9-dfdb-4c4b-aac9-3e8f8da060db phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64c8a76d-26c2-4685-9c23-672234a68bf8 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf3989f2-8c20-48b9-9a33-2186f963beec phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:40711ee9-f264-47c1-8af8-b08d987adcfb phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d014dd60-4eb9-4863-a56f-2b3144743b3c phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:683bd600-ce2f-45b3-8d2e-3691e84f0f41 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54625bf6-42fe-41d8-80bd-748c532422b7 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:752e9338-de62-4aa6-a3dd-8ba129201ada phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c82a5b50-9a57-40a8-91c2-7e6b3726fd31 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c2a02c7-f1e8-4687-9834-b5d9d5d19b58 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da4de643-8533-4fec-b9e9-56c9b79132be phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b4e14816-b931-4c59-bd88-b87eb98776f1 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:934c4326-47ae-447a-bb0e-67c8bfb41ba5 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e853e93-9758-4d74-bd91-7b996ba51d2f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63583790-89f5-44bc-98ae-c372c3ced864 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:520cec16-fd50-45db-a575-1dfb73f97189 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:814ee478-7a7a-496e-9755-c8abc990115a phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91e697a9-5cbf-4161-b8b6-7669c7a705fd phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d49c22e-4eb2-4616-b919-f1a03418fdef phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68761ada-8651-4517-bb8f-31c73339fdbb phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c8fac3f-1ab3-4516-9fb6-4c695220824c phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9e74864-ee05-4f2c-8cc3-f506f524754a phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b186c90c-dd28-42e9-9284-5816b4788024 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea9e7456-765c-47cf-9d88-01f16c63f9ee phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29b735c6-753f-4735-b555-ba5e48312323 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1916aa76-f836-4232-a976-59c68c1a12e2 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db6759d1-8167-406b-afc7-9ed5d9710033 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1a5ca8e-7395-4db4-ab73-35e033457989 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1569da89-04ea-4eb1-8ee6-693e73cadc4f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5f4b15f-13c3-4e1a-baac-9007c825385f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ec796e9-b544-4cc0-a47b-25a7400e133c phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8cf1487a-490f-4b5f-8255-f100144f10cb phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:afd95ef8-499b-4f63-a0bc-56792a1499d7 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da7c2596-8200-4650-b79b-58175b5b8635 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a57db39d-1f64-47c5-a687-60340e75bf6f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f02f86d-9f12-4622-a68a-5ddde39ee294 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc384ad1-f195-47e2-9402-8ebca197f332 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:21d3846c-725c-4167-9746-47dd9279d96f phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3dc6e09f-26df-4743-8185-c570da7afc35 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:260e07f4-f193-44d8-9d3f-8bf5ef2ff979 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0af21e38-81d2-455f-bb0b-97775f8020c6 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f3446c4-2a38-45e0-a9ce-db2114885c01 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8355db96-f6f1-45f9-9fa9-19256442796e phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bab0951-b525-4678-82d1-e441d9edf1d2 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bef40cb-9ca9-4b38-97a5-0c5432da9ba5 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5076e537-c932-40ed-b091-26e950a4f706 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74ea4576-64ae-4bdf-9c15-cb197e64a7bc phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d382a4e-cd10-4845-8a64-356cb8a34ad3 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4933c2b8-98e7-448f-b95c-1ad53419d3dc phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11346c8f-08cc-40fe-810a-d80cf0ecfa3c phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54e71496-f36b-40c2-a79a-9319655862ed phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66e0d536-49d3-4fe1-96ba-a803589a45c0 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e60eed20-aca4-4ada-9665-590064fd8705 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a35059fd-87c8-41a9-8bc6-f058403d57cd phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1dc9052-13a0-44d4-841f-ce0124d3ebbe phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9956328b-9c3f-4f24-a6de-130d8c962601 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e28a73c-9746-417c-8f46-6d369292a99b phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:51879c50-81b0-40c3-9d3c-da03eca7a071 phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:b9e2084b-eafb-420d-9f02-f7a48721c7ce phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:de564af7-f581-4776-a00d-05b8bd5041bd phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y10M infores:phenopacket-store PMID:37962958 uuid:d753f3d4-9c65-406d-894f-8398ffa160c6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1ca64b0f-3741-4276-8d43-3e4c7f837c36 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0628b349-960d-47ce-a55d-9014381e07bb phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d76e0b42-d526-4c4c-a0d1-4e96aa9e41c8 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1819af0d-c566-477d-b54a-1addbc31f656 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9960d489-215f-47d2-a254-8a7683156674 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2fd9001e-5683-4822-92ea-7814f4d3e514 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:25b15598-8943-4e9c-89a3-ad389e1eadec phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6855cc45-8c2f-4af7-b1fa-9ec5187702de phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d70b6f89-e32c-4a19-bf3b-c59c5c68d784 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6d932998-815c-47b4-978a-5283e127eb22 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:22dbd945-4c57-428e-a230-78050357bcb0 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:eefb08db-44eb-4e80-905f-86d25b5da907 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f23858ab-5b83-45d3-9829-5788403614a8 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:267436f0-ec0a-4c43-b49a-208d271bc058 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:316c617d-37fc-424f-b036-24725e79e6ae phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:76db51b0-d909-4989-bd8e-f0c9f3086400 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7c092bcb-687e-4fe5-816e-c24ed585fab7 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4bca2f9e-3b1f-4ba6-99db-41128d2ab8b4 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:66980168-fa2b-46c9-8f07-ea56023561ea phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e10724b2-95eb-4a90-8fe0-48e2ce2e4460 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:172b7132-b5ee-4eff-bd4b-0e693e102187 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c8909aea-4273-4de0-b8a7-364f327c9f33 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:20ef96ac-a387-4a48-b2e8-f4a16d30e1f2 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:919f9038-0918-4b9f-bc11-b307b6afb935 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:36f7c9d0-7fb3-4abb-8c96-b757ee43d6c6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:12476b87-8894-4a73-9fe1-535155560fe1 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f727fa50-3d8f-43b9-8777-367c3e6880f9 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:538062f0-281c-4f9f-90b5-ed876abcd27d phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a917c71-f1a6-477f-bbe2-8acb9f2b9db9 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2c08e0ff-fc30-4e16-b7a8-7f7989519677 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4504508f-6d3e-4dd8-be8a-32be70ac83ad phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f201b394-6a9e-4252-8bda-0bcc791d3178 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1b85670-9db2-44f2-b9db-6f8cbb07c8b0 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8135cb56-3ad3-44ba-82c3-d287116535e9 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cce5e9aa-2c37-4229-9607-2d44bd72b513 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c8fa4c0-2908-4a58-b264-7938d7419d9c phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:920b1b8b-8ed5-4b1a-b123-7d7d6e4d03b8 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ced9e967-65b4-4982-bef2-233a2fcbda5b phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96e2ee8b-f0f2-4349-9386-0596e1a9a3a7 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e6f236d-e572-4fe8-8dae-e4c30d2a9da6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50bea013-21b0-4dea-9b8d-5458360f81d9 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00c40c22-0766-441f-bd68-494f7995c4c0 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:651074c6-e746-4bcb-b86c-2ef109294263 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:614d6d6a-639e-48e5-99df-15ebaae66ef4 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d59e680d-8b43-4f10-9f31-0a87d6d21a6f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:533c69b9-1ffd-410b-9352-4d5bf3e02741 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88abca8f-655e-4815-8024-3c95b037897c phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43b4fc09-acb0-4be7-991c-4216ce00e4a6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:949c90e9-a1b3-49fd-8d70-ebbe44e1fed6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c49af1e4-04de-4ea9-9ce4-bdbfc1480232 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:326cc5fe-0688-4b30-8a46-092861293ab7 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98814a11-f1b7-4946-b192-905ccff2c6aa phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e99fb4da-246f-4390-ae37-5cb5d6a4cd16 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a63a22e1-45bc-412a-a412-3b0047a4865c phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d067a1a8-6977-4467-b8e6-81f559517314 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f7e0151-9542-413b-97c7-52bd7edd9e36 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f4e96d9d-a267-46ed-bbb4-3b53871b17c9 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:788f6d4e-6d5e-4099-988c-0359b6fdac75 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ff2d12a-5b97-423e-8e11-5ec28eee7870 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bee593a7-aba9-4ddb-8330-de769fd05eda phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8b8b7d8-4aa5-4218-8a3d-4ca9b9c7e4aa phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fe90bb3b-b6a3-4a89-a33d-5f1102b95ad4 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f79586a6-658d-46ea-bd9f-52dbf3419993 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:652fa1b8-bb29-4331-97f2-157f19894a60 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0cdbafad-598f-47c0-9f7c-4e9339c359ff phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01aed721-9c62-4313-8bc3-3bea9e97f954 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97a7ad06-0eb6-4e32-904d-9484d110585c phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc59bbd0-03b4-461d-9f43-b377c033bc80 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4d66067-e078-4591-ac24-5928510dfefb phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4f8731b-c856-4c43-b1c3-3c243c36181f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b985bada-175c-4702-9562-9b183971d224 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ec0f00d8-da4b-4ef2-94c2-f7e70a90bbbc phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f5c6648-0af6-46c1-970a-0839d275644b phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a638c58-62f7-44a7-bc8c-4fb3368f91cd phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c89d9c1b-a5f0-49a7-b3bf-73aea6efac1e phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8bfd3ec7-209d-4115-996b-3cfea0c5a8c6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5fad88d4-aba4-4261-aad8-a4f2394a2e25 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d4fd2aa6-02a5-4672-aed3-b0bd346e05a7 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13ac674c-973b-4854-9ec1-250b77fcfa34 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b4dc96d-1307-4d6c-8f22-9ea175245f26 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f3b2af0-c6c6-4382-8d45-ea5eabaea136 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66187b1c-5696-4497-83b5-4b50e520020c phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3caaeda5-819b-4565-9b20-1dd6e896a30b phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a75ed730-b149-493b-9006-6b1525c15b85 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:affabf7a-65dc-4a76-9728-3dec8271e062 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4f6b78ab-e9a0-4a7a-8043-5238aa74db79 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9af7ee34-381a-4c22-94b4-09d2c00e717f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:379f4169-a30b-4c65-bf36-eedbd300763b phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32da085c-a320-49b8-981f-0977b1645e2b phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8ac5207-2dd8-4e46-b4cf-d41124fcc1d4 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6ac9121-edbb-4a3f-93d2-1a639b2b1c40 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c5bc1b7-eb91-489a-895d-f97e3171615e phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b72e139-8748-4020-9fa7-2a08a2ecab46 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10d73f73-6d06-4a50-9ad5-c4e6d597db4f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0275ce14-d3d0-4eb2-8eaf-02c71dbe8ecd phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c9f8846-937e-4e1d-a8af-6676e261fe66 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c3023d4-a638-439d-b7d9-6f50df3966ba phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:108b274e-4c16-43f3-a881-40995dbc5a1f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05e1400c-4407-4a14-9c76-00c44894f0dc phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa5fa35d-3b60-4a7e-8644-21d671918fbf phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a95280be-74d3-47cf-9bae-8f87c75ebc95 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13ea88b0-4b66-49ee-b5ab-adba525ba9a8 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8158dc59-c59c-4026-9f78-34089b8f0d2d phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b47c896-0844-4e23-9a85-3770ff8a1967 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a950e6a5-cdb0-4194-97c8-a7cb3eda55f6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e945669-363b-41eb-a269-249512be5352 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:477fa04a-0989-40fb-adca-69ad4ff624d3 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc49e42b-de90-45cb-a9ea-f9da1fc5067d phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2021b8fc-ee5e-4d05-8803-b9c63ff20e2f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ee2863f-a8e5-4d78-ae32-c9d525fe3bf1 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6638e1e-0e4f-4327-9854-b52da84eb024 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e6f703b-0011-49ea-827b-1b6f1002a1c0 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66f4cda6-b2eb-453c-87b9-757a2e2ec8cb phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8bd091b-87a4-4ec9-83d7-8cf5d6d7c945 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63b5974c-5901-4208-91a5-77f2a199c1b6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb30b039-b9e8-49bd-b11f-8cce671c779d phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5282bca-ee8c-4339-8528-54e06d5753e6 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5065d049-9a1d-4510-9566-c42d581db747 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0abee2d3-6e6e-41e1-9552-b41320f4213f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4eccb129-52b1-4e99-a34d-2312863dadf3 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3836c7e3-3c1c-4a3f-8449-aa44d7c5415a phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:240b5592-362b-44a0-b2ad-b9d8c1db3706 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c89d2c9-9d47-4c41-90fa-fd90636a3825 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fcd6a1ef-c2d4-4377-868c-d5a29f83bc07 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62ed716a-0485-46a8-b0a2-19a2d66c76fb phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b1ac20c-4d6d-4aaa-beef-524f4724edbf phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b432cfd-a815-4d97-89f8-9c3aa104d045 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:965e97b8-e50e-4bbb-8b30-22a7a8e06670 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6351d772-725b-47d5-91fa-c5529f74c292 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69b318ad-5820-4901-8a3a-d5073a934006 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45e2146f-93aa-424b-b668-29712fb4bd2f phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16afaef6-4a15-45ed-a4a7-f3698b77da05 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45d343a7-3be2-4dc4-b46b-56dda82408da phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f9c9496-32d2-40ac-b033-eae6c72422bd phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c16e8cb5-2df5-4241-a114-d6958c03668d phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa4794a5-865d-4e36-aaf5-88ba83e05a3a phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ccda590-e847-4a84-a83c-7a8f2b05cb8b phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:68c9b1d1-e2d0-4d65-bbd0-b8b851981bb5 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82105e66-43fa-48dc-b49f-c1afb09f1b67 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:edd4e6ca-e511-4ac2-bcda-ea12a5c8f807 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:63928e4c-a2e5-40bb-8e52-57b7f8eca2a3 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b808e00d-59e3-4106-9bae-e661f1819a45 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:82050725-c63f-4057-9ca6-9505d378b619 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac6be08b-3f09-479b-93b7-ee66d0055fc0 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad83b2b8-5747-491c-a7f8-735ca9e89fa2 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:882caea0-fa18-4993-b280-8173dbbe4b83 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27188a2f-b47a-4f70-81ce-a3900f55dbf7 phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:e760abf7-0f33-4aaa-87de-874bca2525ff phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:58331a8b-3feb-4536-9ce0-68236d740ac0 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:53a88c81-5b31-4d7a-a4c0-5f2f0c8dfe19 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:e62f965c-dd0d-4c0f-bdf5-ab54b3515ccd phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:d3ce82e7-cb9a-4ad4-9163-5928dd4becac phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:17208c7f-0e54-4518-ba11-95a285b9eb2c phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:1663e29c-872f-4031-a397-e66e53388a2b phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:507b72a8-7fec-405f-b0d0-a40ece439d37 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36747105 uuid:1b8c3116-88a2-4fb8-a0c0-9c3cf625751f phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:3dd12a15-d605-4e90-b82d-9783a6c508fd phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:f9fbb3a0-5383-4136-b159-f2a25ad17d36 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:6e52b861-1e62-4e6f-9ab2-4c0cd9250a10 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:bf4159e3-52b4-440e-bf76-1569784c4fe7 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:96863c9c-1383-4569-8d7e-97fe2670ca79 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:233f0c66-586e-4c56-ae27-719c8edd34fa phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:29784c97-fbe2-4f7a-9399-d760994ed064 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:e439ecee-918f-48e1-bb35-d1884529af31 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:1fd3b5fc-5f3f-4745-86b7-a3791527de87 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:8f8794b8-fca1-4260-9f03-826598817558 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:4933d8b5-4c89-489f-8d72-0f2151371eba phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0010544 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:3e63545b-5da2-4fab-a98c-f9db752c4761 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:64d4c4e1-a8e2-4f47-9bae-b7896b7512aa phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0002395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:ac877fe4-1155-4116-b0ac-593ea14d1b7c phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_phenotype HP:0002002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36747105 uuid:4c0a2da2-4c47-4012-ad54-031885063794 phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36747105 uuid:11907579-56f2-44fc-995e-9104ef8669ec phenopacket.store:U2AF2.PMID_36747105_proband biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36747105 uuid:11f2ed47-7839-4fbe-8fab-5220cb27d482 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5b0e5a8b-1f36-47a5-ad47-741d3d2eeb2b phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:994cf01a-b03d-437e-be39-3374a1a102a0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3cae6918-f1a3-4fd6-8cd4-0f879b1beb15 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:18f4a498-fe12-4c06-92ac-0209b1a17c06 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e911797b-027e-4681-a7ac-205e1d529db8 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a2436548-a1c0-4be9-89f0-0d58b6d24ac4 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a3cd9a0-8f10-41a2-9f6b-c60f03cebca8 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9237bc6-b99d-43f4-99c7-85d8abd5b007 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28753157-ade4-4b16-b870-2088b5f00914 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0765fbc8-8c8e-468c-b824-179caaba6b7c phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3284a7a4-730e-4b68-a914-d0d278d10e08 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8104460-579f-4b13-a7a2-1eb719662d44 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b471003-cfbe-4dd8-b88c-5ee071048cdc phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20d92536-04f8-49dc-ae0b-202aa7f9fc9e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e204d45-1ff7-4f88-981e-b029194655c5 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10277724-650f-4709-baf0-494d824aede0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8af2d551-01c4-4868-a9c0-074ba6b0879a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd602447-4c7c-4ee4-8f41-d7b3bb9966ff phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e4c5ddc-9c82-4c28-a2be-972969bc9469 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ded4abbe-6de7-4679-b0c3-7f44bb92f07a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:853b7f3b-34ab-4cd8-b305-b04777ab4ec7 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6884f236-4af1-4a66-b6df-9347efb11dc9 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d5e55bf2-0306-421b-8bc1-4de26c42bfee phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45ead1f6-7652-4101-850f-8ed6955b0cad phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1746b64a-f086-4363-ac8f-00ea8d58e3ef phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:79025133-1920-464c-ab6f-c02258fa9890 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a1f8672-b604-4a12-94c9-505b2bd366d7 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e46336d-b2be-4da8-9a77-c6a7963c890e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05eff90c-8faa-44a1-ab3d-9b4f747931d7 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:591e113f-838d-4452-b78f-a7f3ad672487 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3eeb025f-aa9f-4154-8be2-e0963b51756d phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62472626-5673-401a-a42d-f44780ec7e92 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:534158ec-dcf5-4298-9fcd-8447ca34aa94 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b717b63-f508-4a6d-9a2d-1a12be5aff73 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5612c1fe-4fba-48b5-b291-d25bf25bcca6 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca82704b-d0e2-4296-b722-d18727826f76 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de8d4775-97ef-4b49-b6c7-27f8997f05dd phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:92836541-6c3e-4be6-a6c1-33466f1a0301 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:103e8126-115a-491d-af75-dc3eb5ea09c0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acc0f925-3f5e-4a9d-945d-1ddf7dc04dce phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da557d45-556d-43d0-8c11-df2a1aaafecc phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ea31f61-6c0a-4bd4-8a5b-8129ea7f8c22 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea87cd79-10e7-40ee-8019-ac595f853183 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a93e1add-481b-460a-b0b6-ea7794c45b79 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6fbf64c9-7e91-4f9f-a140-cc2abb254468 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:982971d3-2ce0-434c-afa7-1c7667d0decf phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73201a8d-9c2c-400a-b8ac-334adf9a6fba phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4da3d81f-6207-4243-a986-fadf6136ca10 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43404721-f82d-4ee6-b378-422d51d9094a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:915882b3-a901-48fb-9514-4be766911456 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f45a074d-8c2f-4490-b018-052e157ce4e4 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9fb2294-ed99-43f6-9ca2-6a95fdad6ed6 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9aabcf5-1417-4cc3-8a3b-61bc1e350559 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:390b3ded-2333-4ec5-937e-a69300100a8d phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee41d2df-7b9b-47e6-92a0-af7fa60eac6a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ebe8b02-2187-45fd-9641-c53d6ba2ecd7 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c4e5fe3a-15d8-4fa7-98ff-ff39fecddafd phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87d56b0c-2ad7-4d9c-9e00-bbc44f00f9d9 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ae87b73-00cf-4fba-9df9-6e49bafd6818 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8492fe17-2e84-4b81-9fef-1ffbbf7bc84b phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5340ebfc-473a-4456-9e6a-0a6bfc58f77e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3eeaf01-4729-4075-9596-6ceb53569776 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32ac8a2e-d048-487a-b0c3-ed3d4eaafb80 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d024342b-0f04-48a7-a559-31b0ef99617e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba0c6ac2-3a1d-48d2-a97f-87acce9918c1 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a10aa2f-3c1f-4e0e-8733-58c7282ed53e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2508eec7-0d8f-414d-a7fa-3812fb92e87f phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e85e63c-4a01-492b-b157-41d8e5e2eba4 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67e9038b-6bc4-4229-85eb-9641afd9fc49 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d40cd3b9-da79-4f0e-a1eb-a2f53069cbd0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db6b642d-6215-46b5-a5d5-38cda43bc6b7 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b38922c4-8fa2-42ff-96c2-a231b7553b65 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72250132-dcd0-4f68-ad22-aea3c1dddc8b phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32210651-fbba-4017-b922-44ab4f0ccd84 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8be1b8b-ca04-479e-99a9-398061fbff61 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b61e5c44-ef96-49b1-8dea-37373e4a78d0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43b608c1-2e0d-4cea-b63d-be64c9265d9f phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ae6f0b2-ba0a-4a09-a6e8-5b8a95b483e8 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9cc7ff81-2669-4780-a15f-a44319c7426c phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1079d542-e1be-4d4c-b72a-6bb4326264f4 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bee532ac-765a-4563-b34e-ff02fa0c023a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf3a0540-0dae-4e84-833d-4f54ae15e33e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17141fb7-9812-456e-bb3b-898cdd7300e7 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c310aefe-8dd5-4158-8849-12f1af5b0904 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:359b1501-42a3-41c9-9203-801cb6fc1ec3 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a182225d-6912-45f8-8206-b5a099ad76c6 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:954844e9-27d5-49ef-9470-77998a931c59 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfc4021d-1315-435c-bf63-b94dc95d3da3 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c529d4ea-2fea-430a-adc5-b3b2a659c2ef phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fddf295e-aa5a-475b-a36a-5d4d669e7376 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86e718b8-5b4c-4f21-82ff-2d1cf83ef2a8 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a82eee7f-da85-423d-92ee-1ff8fc1f661e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f554c26-8459-423a-a3b1-1ad3eada07b0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc96cd3f-6e83-4e72-8e86-ba5ed5167e77 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5af5265b-5072-4696-9cd7-b9168885a3cb phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea651be4-7d41-429c-963d-36a2a1d49d0a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d13f963a-250f-44ca-80ff-a1eab8916839 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c9ca4b98-db13-4063-8782-f28e0c54f8b1 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1c585693-1a5a-48ef-b2aa-9c9b9ab3d407 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc86a083-5aee-41bd-87e5-c1eec81fac6b phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c9fb8fc5-eb96-4b9e-9eb5-7b6987393917 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ea28337-9c94-4a0d-9b27-96f75ceddb8e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03d94923-99ac-4301-9d82-8f53850df6cf phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:720fa6bc-6718-4d8b-ba0d-39de1ffd00f6 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84065fbf-c7f6-4270-a831-d62e9a67879a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95664422-288d-471b-9600-e5bbfecc7e1b phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a138388b-1073-42a0-b4a4-eb33c9667082 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be644a47-c56d-4fb1-b3e5-ad054e32e136 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbca40c9-914a-494f-aa1f-198a2e5924a2 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d499ae7b-f4d7-4dc8-946b-2d592b2cfb21 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:253e9463-7def-4143-81b9-0698c00e7a02 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:67862ddf-5720-477d-8bf0-1bd3b9a6a5f4 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df4b2d65-d5ac-4258-aea8-67c20d7005ac phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61bab7fa-7bfa-4179-ac2f-a969aa932f86 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0988da03-aabc-4b62-81a7-2257e2bdd28d phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:611c2cf6-c77a-4d36-848e-0cb630441014 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ab1bdb1-b5ed-4a99-9ce1-36b8671dfeba phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab0f33b7-c4c9-4015-86fd-3cde12993f86 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c7d8089-34dd-4e40-a1fb-3181e090086d phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c81722a9-3dac-4cbd-9330-99bf16b03397 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:928f0a02-9371-451b-9138-0919818624a0 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e80436ad-c1c8-46c7-9813-f25358233928 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:253b57f7-38f5-47fb-a0d3-6f741d78fc2a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d59be197-b12e-4e39-aa93-02fb3d515ca3 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06e2595f-3057-4446-95d4-e4917c3270cb phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fa213ab-ffa1-4ab5-92ed-835f98e67fc5 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f484fb29-f89e-43fe-9a3b-baafb575cc9e phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76022fc4-a8b7-416e-9806-46c9c547a65a phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b10e3d1d-500b-49ff-b272-cb0d49ca306c phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fd667f3-5f52-4858-ac61-b4e295a3eaea phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc9a3267-8635-4ffe-92d0-3f3d07bc79f5 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34166748-9bb5-46da-bbe7-48ec7a5013de phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51ef01c5-77bf-498b-8f5a-203ad4b3c421 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9f80213-e9a2-4acb-bbb6-feabf93a84f4 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2464d11a-b488-4bbb-a939-8a080994cee6 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9718bf7-1bae-471e-a28c-65309951c7f6 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55d98d74-6ef6-4ba3-964e-6c923a0b8286 phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:cb7786e8-39f3-4568-81ee-d60fe8392eda phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:de2dead6-ee36-456a-9d37-42a3ce88a5b0 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:37962958 uuid:82f60769-735e-42e4-a5e1-750e2060cfbe phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d3240629-8263-4457-aa08-85ebdc459327 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3d31c7d5-70bb-4750-902d-35d380c52137 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aa10c394-9e54-4e21-8630-f26416ea9f55 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d077ec20-150a-4e86-a5fe-cd912765b7bc phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:22008756-96a9-472b-a11c-ac2c31b1492f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9d2678bf-2925-48c6-a54a-9d061b04391c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3b7ff241-d791-4c2c-808b-cdfe8d62bb1c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:01c14fc1-b84c-4ac0-9410-6f8b1fec624e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7d36f3f4-1460-4c64-83ca-0d5f18ec56ff phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ae169edb-3338-4f00-bfed-e77029771ea0 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4d43208c-7e80-4606-bf34-4ad7ee0c2ed2 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fa2f02f7-e029-4e36-99ab-a6400b8c5306 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ce6d5140-41a4-4c4b-948d-98d44a981435 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9c014fe2-a208-41ee-83d5-3dd089c9accc phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:243d6511-45ee-46d2-8227-53e548fb2b90 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f0cb0853-4103-45fa-b2fe-c0c6ac645957 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5c23761c-430d-4f0a-8587-9d1e16c1c922 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3419ce1d-f3a7-47a8-a7c2-0368a5a52a3f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9e74805f-87a9-4295-b7cc-bc1f62bc4fbf phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:59a0b869-4166-4511-9476-ce9e62d45280 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:db11993e-91c3-4ebd-a08b-19af7f5c1bdc phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:56d7f41f-be39-42e9-9c0d-269d5525d3f6 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c7752da3-81d6-4ceb-9eee-34a95b3c4443 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8fb0f48b-eedf-40eb-ac51-44614cdc4539 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:554af1d6-e151-4f60-a1be-19ab015e1d4c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4ac04177-7598-49b4-ab6e-a9f4db643c3e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c197f29f-225e-44f0-9c7c-72c8e09bceda phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0f5c324-a050-4244-9d17-3ad793eadf24 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1fa5724-0032-4d84-bf63-1eff2fbb084f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecc21095-fe32-424c-94eb-7d64769c4fbf phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3e088ee-4961-44ba-abbb-3c81baa315d9 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6667ee9-5c54-4e21-ad18-96eadf0c731c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c67cc856-2f86-4eae-a4c2-6f4bbd290b32 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7a0422f-458b-4f54-9b5f-e95a351315d3 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05ecfd5e-df04-4fa8-a361-dbc853c9ded2 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1f17685-a369-4c66-aad7-ea91e211d3e5 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29f68035-8106-4054-8aac-4d2656ec350d phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc784df2-90e2-4b68-88d8-1b7daffa0fa4 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24368dda-fa06-4e6c-9965-72ea5c78b93d phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c62a5d4-7b8c-4562-a877-d1f397d5bbee phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c332b40d-d18c-4046-8354-61d240b81cd3 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d84034c4-333e-494b-a77c-b63cdc4cf3d0 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5acd43f9-459c-4e58-83a0-7d5b060dd40d phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:58d884f0-94a8-4d2d-9cfd-be953872fa1b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5fa82d6b-a127-4015-aff5-41ff8967391b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34b1ab1d-3c5b-4b3b-8edd-f3c166b86cbe phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bdc04634-fb5f-407a-9efe-9205e839c2f1 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12014649-9e94-4000-85f7-ef9bfc1ac7f2 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f583adf6-2807-4742-a0ce-95e3d574aa8b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2627cf17-ef78-4ebf-a5f3-cd5541e855fc phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17b8918d-b335-494b-ace1-2a62661a85a2 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e4bfafe-ed6c-49e6-98e4-0ae5a0b9e7ea phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42211c02-3c02-4184-9f14-6887f72d8c3b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d70315f0-f6ff-41e2-8f50-32506647f202 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:452b2c91-83f1-4cc6-80c6-22084af06d14 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18bb4f1d-849b-4ae5-bec7-5db226007fe4 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8caaeb2d-9f33-426f-a470-032e73e7e9ae phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d49a51b1-7ba3-41bd-98d2-2db59dd94448 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcd90fb1-967a-4677-a023-10e37704e501 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3d755c0-2cc3-4e60-8b44-e83400a9a096 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c798eff-9b00-4b8c-aedd-59783511c434 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acce2e23-2dd4-42f5-8f98-edd27c8e333e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0312ffa5-1198-4abc-ac13-660b451d28f8 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a86fe97-c783-40ad-b2dc-c0df235dd7f6 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e1ec12a-314c-4da2-ac4b-e5ee465ba4ef phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:205cd19d-2cbb-4804-b2ae-fbec5c3ab4f3 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:deb8e9b8-02d8-442b-afb6-98ce8d3cd786 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bbe1f7e4-1996-46fa-a3b5-7cd6cebc13ce phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:595840d9-b51d-4c56-ad6e-3a80ec0026b4 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4aa89fb5-f604-4171-8b17-59727783b22b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2dd62b27-1f2c-488e-a929-c139601bade6 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b2c827c-92cb-4d9b-908c-19091ff5881c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f0b0001-b671-488f-bb96-7703e7112e70 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d40f1a0-dc64-46c1-b69a-d100b402ff07 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8693607d-32bf-4eb4-bcbb-3c97fdcf2478 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af8f16ee-d240-46cc-84b0-05a1f63a933c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:380c45ca-ec94-4daa-95e5-9000b669a219 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bbcb84a-5e03-4361-826c-1c9045930b8b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be00aec4-80a4-4b44-9ae3-c0e2daacf965 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:764210de-49cf-4b55-81be-c975483630c0 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c000867-0bfa-47de-b3ab-fd4f5f1c2378 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:deb819fd-891c-4dca-b9f0-33b72cedd4b3 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d61eae87-3e72-4882-86e8-68cd0548362f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69ebf231-37fd-4d1b-b187-11a4e14a3bee phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f68ee1e-95b9-46c9-b71c-5e513a6014ab phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a823c594-f93f-41ea-aa75-fdbae174e40d phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fb21b054-126b-498a-91c2-5a833817dbd1 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de35ad19-4989-4e67-a331-c88064a2d4a6 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3012cd8d-b0d8-487d-b98c-0a64341f93f1 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6632fb03-378e-4af0-a0a7-2c2fe15f1837 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7d0d976-4a32-4187-80bd-967db39a4c00 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d896401-0348-45a9-acc0-3288dee75dea phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26c74181-b935-4425-9ead-f8bf6f1cd169 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf79bdf2-e3e5-45bb-8401-e56dc2572b7b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8464df54-51d2-4e49-acfc-6e714e86285e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3499bcc-77a7-4946-97dd-83d28495db26 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6488028-c8d0-4aaf-b116-20a85d682ac4 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87d9a7a0-e85b-4eda-8b52-a088677a2ebd phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf68b26a-2941-470b-9aed-71c1670871d6 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90e20119-6997-4bfe-a20c-1bd18e4a6a0f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2ca7b2c-e80b-4e26-9d90-0ac5ba5fdf6c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de5436f3-4eb3-4ee4-8978-abc6050e6461 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8db746ae-a31d-4de8-b572-4993ed13a297 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57a60c42-ba52-42bb-922b-95406dd3ce5f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:72530b82-8e3f-4234-9342-d8572e3f5eaf phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ae778e3-ac4b-4b02-9756-489ce0fe34ff phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6e310c1-ff94-4433-a021-72a9295ab024 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29b0d18d-addd-46c0-be8c-b46186bac41c phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3493e578-ce69-44d7-b70f-c69459d96c88 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca878573-1a7a-4894-aff3-fe09a1d5249f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e58e4736-06f8-4ed1-ad5a-4eeede1e8c7d phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9fc3b1b0-2a69-4df2-ba35-a5fdcc335e50 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9513a09-1328-42c8-999f-6b760724ab76 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f044d2e-c221-481d-ba25-2304ca188415 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad0df4b7-32d6-4a3f-9396-1509e415949b phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49267b25-d4d3-47ad-84c2-8c1c2d2f0b46 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:305f2006-efcc-4bda-a2e6-8394360daf73 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4eb33b0d-bfd7-4614-a41a-218fc8ddddde phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b99ba25b-9df9-493e-8904-7676cbe02ccc phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c5e3887-56a5-44dc-815d-ad3be444eccd phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:66f8ec4e-3d76-4881-a784-66d851d04ea9 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e740aeab-dec0-47c8-bdb4-fa4d6b6fff5e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e8b2c08-6a34-4701-8aa7-761463c88002 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:066c99cf-3249-411d-849d-609256e5d180 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd081a18-4001-4057-afd9-080535ec778e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0cb58cb-adf4-4674-9c16-9c2e9f5455c0 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce4a1e32-4697-490c-b910-b9e47af81dbd phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ad7d6bc-b2f7-4b0a-8c81-63fa720f7e7e phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d9e05b5-385a-406b-9d9c-7dd5d88babd2 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84665915-3fd7-41f7-838c-a210ff098f95 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa324603-0fe1-41b5-8f9f-67899c31fd60 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71d01403-8e0e-41c9-91ec-e000342695ce phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:704003ed-21e5-4bd1-8905-6b6f28436656 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08589489-57c1-47da-bb11-eda18b9a3ff7 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36b289d9-b8d1-492d-9694-927f04b4e675 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d7efa6cc-0834-4167-9829-d1ca543a1f29 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ed5f53ee-f9aa-4e72-bb3e-4fe5d035f720 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2642fda7-c77b-4508-91d9-c887a66c64e9 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1eafd63c-c4d8-4bda-a59d-6782ce54e1ad phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f41de0e1-3358-48aa-abbc-b35e07b54546 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f1b921ed-5de2-4059-95e2-17b7c05cc1d5 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d20d861-79ad-4d16-b964-5b7f208164d5 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0a18c3d-db06-472e-9eba-ccbd1ec11946 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b51888d8-55db-4dda-b564-21249f8d712d phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4622979f-aa31-4bff-8020-1aa52494b380 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef9bda47-7efd-4a84-b8ae-352a85362a71 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bc09e7c-f589-41f8-a70f-963007d443c3 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c115a815-39c5-44a0-bff0-534df4d8d420 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:51d68e4f-55c6-463e-b4ea-0569388a958f phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85242249-01c6-471e-a89a-a586d24906a0 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aaf90db2-8823-4a2b-8aa8-4b4498511296 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09a5664a-81c2-4688-9b14-c995b12d9d10 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dbec7d1c-9d70-4f3c-8eb3-302a951df042 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0e108cc-c047-4d62-8f38-b7914eb9bc88 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37f52a90-44a2-423a-a4a8-e66a459b9311 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P4Y10M infores:phenopacket-store PMID:37962958 uuid:a5d5403b-06e5-4bb1-8557-3066c7bfa226 phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:95efaee7-12d3-4c8c-b0b6-4530e6402a87 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e1fcabfa-4653-4031-9cb3-268c7a289b3e phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8b2d75cb-6572-47f3-a0a8-32a8642cd4e7 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b97b7de1-d249-4e03-ac08-fd77a48a525a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3d267bea-4a62-4ed0-bda2-152e3f4a7d40 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dbd02d9e-4c1c-4d72-b997-c333cf41d97e phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4d1bc8a9-1b03-45ba-a45b-6e945570e9cf phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7778bfc6-05f4-4b6f-a4e4-4358191c85af phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4c63eb9e-6940-4105-aa17-f2ba064d4b25 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:800732f8-2d4f-48ff-8f3a-a1a4ee973d38 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:86ed7654-41a4-4cd7-a548-9ac17a38089d phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89084adc-dc1c-4baf-829b-89bfb079b50b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7750a74-1fa0-4931-85b2-2c53f5c0d56c phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a2f809c-6d70-4551-95ac-a482fd154cad phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7ab2954-51f3-4d8e-b61c-b8c55d83b8c4 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3137586-4e8c-485b-b557-c67226d68f6e phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2124bab1-8bac-41a3-81aa-9403ac7159fb phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38f55cf2-c576-4b54-9bd3-87dde219b45e phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38bf7c1b-e9bb-4635-a234-c52cfca6fe59 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20418171-7fd7-4e22-a779-968dbd4e3122 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b5ba318-2a6c-4e4d-bf45-3f3298d3fce9 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d31e4df9-8326-4178-a405-ae68e4859151 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27636f6a-a07b-47b7-b769-7226a8f8b097 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de90640a-d2df-4e5e-b1ba-24647f7b7b29 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3d4d9f5d-991c-40c8-b6e3-65d1f7258d51 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cce1b0e9-dcfc-4a40-8963-b6d482258a8a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:941dd622-b1d3-487e-849d-547d3206a1bf phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:352408c3-6613-492f-bd27-bd1cfb2805ff phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0aef29ae-a84d-4bc5-b085-a2384d26a6ad phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87b3a45f-f9bb-419f-ac3c-0f4c57d65098 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9fb7fc9-50b0-4dc0-907b-4b1ebdd743d2 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b87d3a95-1562-436b-bb2a-cfc179fdbec3 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96fdf708-f2b6-4a34-86bc-531ca08926c6 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02e7c7cc-f88d-42a4-a0d3-99a2246138a0 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53e817a2-d913-4bf9-9647-bca8e3bfb5fa phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:323559c9-f3fc-4d35-90ad-dec8f25d5374 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:197ec998-d85a-47dd-a9be-7e0ee308422c phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6f015b0-0f31-45e2-b558-91770c84fa22 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5ebb38f-3585-45df-9158-81c767116bce phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c4c97e5-ec85-4d6f-b55a-08ea340673ff phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95f1763a-6ab4-480f-9e83-62cfa22283fe phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa0a7cf0-73b5-4645-bd9f-3769f5fa7a26 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc982a82-1977-4ad5-8a6b-540e157accf9 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2da125b-3a44-415e-a5a4-7bf8be79d3ff phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d31f9b3-b082-4ad5-8ce3-0da2fd172122 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:833f63b1-091b-4afb-a751-b34e83519c5b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06b189e1-ec73-4ebc-9b28-dff0bb692100 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15fc3f34-736c-4f98-a9e1-a04510a312af phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05626d3b-ae5d-428e-9314-8daed934d4e6 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f716ecb-c1c8-4d4a-ba90-f7f06b911f51 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e98e06e8-9c37-4247-aaa8-b44528cca7b8 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cdaffa84-dd11-498f-b437-850184f88713 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ea26c78-8f4b-435c-b81f-016ed1861eb5 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aa686ac4-d709-4a15-91a0-2a085b58afe7 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07abdb09-7907-4a5a-afa7-890fc619e495 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b43c27a-2173-402a-9919-a32cd9c92209 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b67d1256-b41c-436c-866c-0c46e31cb99e phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06dc90c6-bffd-4be4-aa79-1aaf4a4d406f phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:287ea10c-3c2c-4d79-800f-d5c547d89ef2 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:775c4eb9-9274-4fcb-9ccb-e28e4f549510 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d5d1a7d-ee6a-4881-b2ba-57229a4e825c phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2fd478ae-dbe8-482d-ac12-30f3ff266420 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cadcd21d-945c-484f-9b38-4fdd5e7146fc phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8f4067a-2b13-4343-a397-490af2748628 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7dc1962-5632-47a1-ac72-6670ed99af24 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08054e49-5439-4a43-b281-c5af62a9fe0a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9858ae59-7d6c-4541-be28-d227a6529978 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:93f6a8c0-07bc-4a96-957f-698b141db4ed phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01e4be7f-4c12-4d65-8512-85832dc03031 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88d9fc48-eaaa-44d3-980a-8ba4151f8f11 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aece2d72-3dac-4dc7-bd03-e213f563741c phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f99c530d-1fb0-42a5-84d6-e3c6c4a7d5f3 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88dcdc8b-ee2c-494f-996a-e28fd108aa3b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a7c8d6c-8337-4a30-a3d3-85e2f28bf3ff phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e9bde57-6f0c-4217-b2d2-88df94a84b1b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7cd17cb3-ab5d-4529-933e-3e93df14def8 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15d2684a-bca3-48bf-81ca-c7a9d92b2b59 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f09861a-d5ea-4bfd-8d33-20ebcaa31d5f phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52c83082-0365-448c-aa0d-75008c61bdec phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fee10ead-016a-433a-9b8c-2176ecc68f91 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2eeaeead-f138-446a-80b3-a52558a3ef6b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89c61f59-9244-405b-a7ad-21adb4ecc0f0 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:814c8da7-3317-4c09-92ba-52fc480122a7 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd805900-b93b-4d14-8d66-21516f67a0b9 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:031e1dc4-637f-42ec-924f-87c4fab27c55 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f42e7bf3-7946-4d9f-8def-c5e853826f24 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b417eeb-e44e-48e1-83e0-cf65f08673dd phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad22da42-27be-4e26-956d-4794fe457cdd phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:40e0ba85-b573-4417-918c-30d689932ef7 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8aa066f-8db1-4346-9eb1-3ec441e23081 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:940b3c23-af17-423f-8c47-94e52c9f4395 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78a53a6c-1ff9-42d7-9ff7-5137537b9225 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e718f731-34a1-4fc1-8284-1ddec5c1fa75 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4aed0e8-5d26-4144-8810-80a53034d577 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:991357db-6e0d-4834-bb22-5eea3ceae7f4 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3086562b-8404-4c43-883a-f094ad8a40c0 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07290d45-cc82-43ca-9e75-854ae6aec785 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa3ebaf9-3160-46e4-9240-5754c2c9835a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e38c76b-7c22-49bb-918e-e9dcf18021c4 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:942dad02-1daf-4898-9d74-10b3f3ece7a4 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:438881e1-6536-49db-8c72-ed7f81c71b3e phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9100b8b-a623-4e77-ab36-39a7e072470c phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d18ef8d5-d3b3-4c25-9610-62aa2c1a6584 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d43d802b-c108-4ad4-bd8a-8e662ee4a0c5 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:405a2374-c326-46c2-b155-b24ed0f1a1d2 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbaa63d4-a5c7-4ae6-b4aa-cb51144f3cb5 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de569622-8213-4f93-b3e7-0d5a86f98e2a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f5f5c7e-0e8b-47dd-936b-176cc58a6bae phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c20a507b-fc4c-4803-af22-7276c5412831 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba3ad928-7330-4521-9fe5-74028324f587 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4bd87376-7515-4d15-9045-5c072a13601d phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:271d37e2-5a6d-4e14-8210-b7b6ae26cae6 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fcae456e-6471-4ae2-b09a-49067496b706 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6312f132-d3f9-4c6e-84b7-deb4eb796356 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:786b3a6a-18dd-4362-a9d4-93705c7fb830 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2fc9c5d-074b-454e-afc5-cc45ba10e32d phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:050be112-1e05-48b8-a7a7-c62cfe4df903 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:edf2fb89-153e-4630-9dae-faa57d80a25c phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45e130fe-0d5d-4b32-97c8-028d0a302b38 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecc382aa-4168-4a1d-b93a-95b979cc543d phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af578b4c-06d8-4162-abd0-7a307fe04d43 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e88594f9-ffeb-4572-b43f-31101b6e9304 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8de77a3a-ab8e-4855-b9e5-3ad8716eb1ee phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61d85a58-8d51-4117-975c-cdc70c7d2fca phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0da60d76-4f6c-40b5-8641-f0d918cfab5f phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a8af5aa-fef4-4f04-8f13-0e93e5a7f700 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59e31f0d-6d70-44f9-ba2e-cafba1939416 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dfaf3081-b1b4-4f10-8885-964a0a03817a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0638da4-8a0c-417f-93cd-241c556923e3 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16c3de97-d985-4bd5-9024-e6af8ef98656 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49481899-4501-4645-ba6f-f804ea1e63b4 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d700c310-2b5e-4294-8610-c5c57487e22b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b87bb50-4198-44c2-9b63-523619df6a5b phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9cfa7fd6-cd9a-4a90-905c-49d275db9acc phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea1fef91-4201-4816-b846-3bd455ac2b31 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61ed42d7-71a7-4e62-8483-b7ffc58d55a9 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e244056-b429-449c-a106-e602fc13b0db phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c8599e1a-7f6d-4c7c-941d-b09f3cbfef92 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1481885-e055-4ac6-adf3-075ac445bde3 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcec85d7-f2f1-4d0f-b2fc-e86c4a8104f9 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b83bfc5-1479-49bc-80db-6983827fa31f phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1428ea59-1367-4b4c-8276-37885d752d42 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45f31e30-7bf9-4e07-a5cd-ee205f0cfa9a phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37962958 uuid:5d0576fa-0fdb-470f-a735-645bde5f9094 phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:3f28f8a4-cb3e-4635-b294-c06a004c765f phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e5d40681-4e72-4806-9839-8679f42d0ea7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5b0c3215-de39-4cad-8994-1d090fafc565 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a7d57994-c904-4aaf-9573-0cdce02300f7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:18ca63fe-08e3-407c-8ac1-4a695827734a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8214f377-07bb-40e1-a524-1dce1832c945 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0357cf67-163e-4dcf-a9e5-b6ff60f03c0d phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:edd5586c-6586-4a44-881f-dc364207837b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:421a1784-dd0a-449e-ad15-24ac7d75882a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b74ac447-d6d4-40ed-8ab4-b0349ea41a0a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:df1d1b8c-51dd-4d3d-844a-a615b26317f9 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b4764524-69f6-4d54-b12f-0a8aeb0deffd phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f3638fa5-f68d-4795-a40e-2379c6ec66b0 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6fdde003-1ed9-46a3-81c3-7d4b7b28facb phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:910ec2a7-1bb6-4c0b-907b-40a62ee55084 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f2af9e18-5e4b-4cf2-b0b2-7fc52d3a2c09 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:93c9da39-0ce5-423f-a2f5-5ccc277fa443 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e5af3588-bdea-4b4f-8dec-d7ec18e1dcc7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:36dd1cfc-14ab-4a5b-b2c8-3a804e90ac44 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:64b0e2b8-2cfb-4cba-b10c-9374e790bf23 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:44e2da22-aa4a-4e87-8a2f-9122356d4218 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7900cf21-6c5a-42fa-b6a7-2846e638a015 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6bb3c65a-a11d-4cb8-b8de-527e571fffb1 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bc7c83bb-a915-4d14-89ad-d948ce791297 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a697e26-3c42-438c-8d0e-a68d74cfbcbd phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1d8101a4-8e02-4880-98b4-708d638c8b40 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20721706-1605-452a-839f-e2a972223c73 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c14aac22-45ee-40f3-a2fa-9d61774c30ab phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a19deb1b-7e1a-4902-92b3-540567c0e64b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a184977e-63e3-436a-ad52-98d366b2c889 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8e943ce-f5ab-49c0-b2fd-f4aff2284511 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0bd2661-90c9-4d8a-9091-9eeaee5269b7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7090dbb-42ae-4720-8664-2adf5843e66e phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f595cdde-0620-475c-9902-06f2b4b9c30a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:557fc7e7-7669-48fc-8ca9-6e26b87b6d23 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13bffdd3-24dd-4ef5-a2a9-be87fb41cb6a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:40a29e25-abd2-4fd0-8f58-bdca3ab061a4 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f73b42c-977c-4f83-bfe6-17b6bd1efbd2 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3be084b3-6188-4bff-aa54-659ccf7325d7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b74747d-6c16-4838-802a-ce3d91a76289 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49f1aa93-9497-4e58-a90a-bf2cc67dc417 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e4e86cd6-4c95-4d2e-8430-e68499eab888 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f399f3d9-eaa7-4bf7-9170-a2fa0434b896 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c9f23e60-06d2-49a7-b102-749fe0513a87 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef0776d8-1c24-4c4c-be46-43372b3b0ebd phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:255242d5-f1ed-4514-9b2c-659596e860d4 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3ca60d1-0b89-41b8-93ad-858a313edf67 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2945752f-fe16-449d-b56c-29c532f44c69 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dceef51f-b370-4336-b34a-b791db6d2fa3 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:622a6d8d-a0d1-4d35-97ed-ba33878d435d phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bebd23e-61c6-4493-b59e-f044a2513969 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8234a232-7ffa-4f97-a77e-72cba05af75d phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:101cd9dc-505c-4449-97ff-3c65da407525 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:426f39d8-966a-433d-83f8-2fb814fcaee9 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89201b20-5e14-4ee2-b566-93a9e93e3a64 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:807df1d7-cdcc-4683-9916-f0d466780f17 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5248233-e875-40bf-a36d-2d4c5e629077 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:41490027-29aa-4a86-84e6-0f0606d7a333 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4d62fb7-fd41-4b5f-b649-77ad970e4614 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ea4aa4d-c9ab-4999-894b-2b3d14ec23b8 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cd660065-de00-4fb7-b2cb-9af9cae7c5e2 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:557211a4-0255-4431-b594-e887e728d8ed phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20b3e98d-cca9-42f4-a77e-bad19aea54bc phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d444153-2f1c-46ca-8ac1-0285300bfb48 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a94cc7a-e033-4028-b268-28ebd4bf81f1 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0151048-f4d4-40f4-bb3f-3b5f2701f477 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e0ecbc56-949e-4f9f-acac-fe5bffc2cd3e phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c6609939-ab65-45cb-855f-674073103189 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a881e2fd-8a03-4a49-87c2-ab05a9d2aa15 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9554482d-dc8d-4663-b28d-df95bdb3892a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bed622f8-c54d-4d94-85e7-5bb6d1647572 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8907c68e-b705-4c2c-b62f-b768a3d28132 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60df29a4-2f77-4ab2-b3c3-b05ef194d25a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d663a54-11a3-41ed-83b9-ec08f5ccf4c7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e309f4bc-8007-4333-a103-f25a222b5ff5 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42981c89-3f38-484f-bd07-c606f091ada9 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a9379d6-1a26-44a6-b855-1252cc4b7552 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:241155f3-1386-4f77-bd67-8048a6f52a02 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7781c531-24b7-4f4d-9b3e-de3cfc66e6f3 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:068b4e2c-f7b9-4e57-863b-2bd76f6b1200 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b925889-b0bd-46d6-8621-1212393b6fec phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87c4abfe-ee5e-4a62-b78b-51bea3137cc6 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:794eff9a-a57e-4d7e-a5fb-8675f909484e phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71c678e3-31bb-466d-a778-0f78a6205e8a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e50fbd2-ef23-48f3-ad17-10bec148b08b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:443f3e87-5cbd-4b24-a44c-0ee01bfd4864 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3508dd76-c009-4984-8263-916e221a9404 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:812b909c-1c8a-48d4-b55c-87fc489f1e45 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6cca1661-d2d7-4db6-a5e1-3a99376e947d phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18ed6c1b-de22-4c84-b300-3ab3741ff20d phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3cedad32-5e05-43cf-a0fc-59a7a20fa1c0 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ccc1014b-4979-4da4-afd5-b4d537a2c15e phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:da27e41f-a125-4b7b-9431-ff36976d84be phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74614c95-dda3-4fe6-8f9f-dc4cd825798c phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d07f90e4-2676-4100-a71a-ff7035d81382 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3fe0c6db-5456-405d-b210-3e497920b079 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f3febc5f-2f87-4dff-bf5f-352a0c325828 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2eab3510-c668-42b5-bb48-1367161789bd phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:952521b2-e1ee-4322-b03e-a6a6d430ae61 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3df13dc5-3a2e-4e88-8d48-eca326cefcdb phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:34d04392-8977-4991-a9c8-b2cb6153b365 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea177a57-7ebe-48f6-8e67-9dd6f2d3a344 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a105932d-f899-406e-a2c2-cca72a23c044 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:840b397d-6abf-4b9d-afa5-c4c4dd4d14f5 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1d4f407-b0d0-4983-b0a4-f97fa7197c1f phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9081d1a4-2678-4850-a4a0-610d385b844c phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8b66733c-6e2e-4759-8f54-765ae7ad2bbb phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5dfc4aeb-0d87-451e-ac24-43f11ed8a2eb phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:290af8c6-2073-42db-a31d-2bdd209049dc phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e67e7ee5-e911-4678-ad59-2379c704d71f phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60d77487-b10f-4da3-a62e-f53102a5d50e phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e7185ef-0178-4b76-be0a-5eb5109314c5 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3b8f0bd2-a9a9-4d20-8a93-8ce0f5eb4ac1 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3161bd0a-196c-43a5-8f01-42f77adfd1f9 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:658b907c-c95f-4f2f-aa1a-61a7018f802a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88993639-9f51-4bab-9b9a-c1d0ccb534cc phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5607ca8-631e-41ed-905c-fa88b769add7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db69fabe-6097-4701-a462-4f04f648dd22 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6bdd3bc2-bd39-4943-857a-1443556fa15f phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad1a74e8-68e4-47e9-8c19-066c3d9c0265 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5dfd9f51-8178-44ae-b1d1-3150fea2cd57 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3973075e-339c-401c-87d1-8778c5d33164 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8322afc6-e8a3-4cf5-81fa-07944783c22b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:656a1251-b7ff-400f-8259-f33810344009 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:818fc9b2-884d-4cc3-ab24-e754959f3bb8 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5dda70d9-1e73-42f0-bd82-91884a74a3e3 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e6c6bc0-8be0-4f47-ae70-f33828aa5764 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aac73105-2cd8-4321-9bf4-14b82dcd702b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f21f7f43-10cd-4cf8-89d1-b9af7a4da220 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf6ebeca-edb0-46cb-983b-12e4bafee52b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f49f28b3-405a-419c-98b6-394103240f82 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:398e6d76-7c47-4508-be2d-6e568a6bd1fd phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2f47ab6f-77b3-4022-ba28-41f1d764d1a0 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25ba4c9d-e234-4515-ad87-de8bc1f09015 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12d3be6b-7b06-4f98-b6c4-813ac996dab0 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f4cf308-1203-4084-ba23-4cd209076c27 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3a32dab-87b2-4cfa-a0e3-20a10f6ff0ed phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c5e9af0d-be55-4fd7-a2f6-2a06ae403bae phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:77513ba2-1dd7-4c7c-8223-b57ac7595db5 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:843dd445-ea09-43ef-9835-36bcec8f2382 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54958be6-23ca-434b-9ae3-a9d72fce2139 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c55c4df7-1860-4ecd-b8b7-c59a5e00fff7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b8522b7-66aa-47d6-b4ce-edb93098fe6d phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b265ffe-f6a4-41ff-b4a9-a956aacc75f2 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2910ad4-26aa-41a9-be1d-5b3cd78a626e phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:693f51e6-6575-4500-afcb-cc368930fb1c phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e4a6fd9-59fa-4bf0-a178-2615e2c05eec phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e81cce0-4326-4989-ab4c-214f587e90c6 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49661631-1fb5-4c0c-a497-4621c3585ce9 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23bea86e-0849-49de-b75c-caac81b87c30 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:590e69d5-ec29-4a89-8eda-7e63c414ca8a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9423c884-4d7e-48b7-847d-230c6a2782ad phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dc45e695-c3c2-4696-a50f-d9cafb6ada1a phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d90c1e2-8c18-4f7f-8eb6-ea38e080a8dd phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53edab01-d9ad-44bf-9f3d-d5368d3c569b phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9601b125-0dfd-406d-a50c-69d6bbfe11e7 phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:e0a39ad6-1aae-4913-b729-38fc3ea6bddc phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:f396532d-e8bd-4039-ae9f-43389fc11843 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:09194884-93a5-4f5f-b1fd-4bb1a6b1972b phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:1ff9db86-bc9e-4d32-a8be-27dd494d270c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9f4e62d6-680c-4a05-bbe0-08c129ebf021 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a2ccc67c-51db-464f-b5cc-80224b16776a phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e5435d3b-c808-427c-854e-f3c780ac2730 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:41072818-f168-4506-9dfc-97b6eee2e19a phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e5035e69-6de0-4240-945f-fa0ebe198252 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5d764b60-f56a-49e7-8b77-9f68cd300dab phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f98e170d-0e7a-4462-9760-09df0fd720f4 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fbec5947-9553-4b25-98d1-52f842336a62 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d030a0e4-3fb3-4fc4-82fc-766d09894775 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ccdd5f97-0c61-4289-8dae-070d45d6861e phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b644842f-e3db-4027-9f94-82ce1db460a9 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9112faa4-5fb2-4da9-ac37-95228f59da15 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9bc8bd3c-6b8a-4313-9a3a-cd1fbccb476a phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c4691890-c4ab-471f-9853-f00efd161166 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:da056a2a-58a3-4567-a391-2d57ad3b4701 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7083087e-a9e0-4ec0-ae46-d44d10f4f96b phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0100807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ec262822-5cf4-4994-919a-f8336f1fdfe7 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:15e40242-af39-4434-ba2a-e925d57074fa phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4277e3f4-2875-407f-89c3-3de2c11d6939 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:765b4eef-800e-4e31-af6d-24da7ff69334 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a194015d-162a-4cba-94cb-9ac95f06d6bb phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0589eaa5-88fa-402a-98f0-f55094d93cb6 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1b6d3f4-73f4-436b-975e-19b05c874e58 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3f5442db-9485-49e5-908e-93c80f6249a3 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c01c3af-2bb4-405b-a952-82d7a672f959 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3d3d238-9ef6-4220-9c1b-73c0b303934e phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca49dc5a-ad83-4a35-be84-d61fccef3c36 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6c3dbdda-a819-4e6c-9fa0-3f0d66b96790 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b5ec9ff-bfa3-4add-be4b-65ebba3f8938 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b40a220b-b919-4190-b1a3-6443589334c5 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2378a113-be8e-4fdf-8dd5-9abe137912dd phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:968e7f96-4030-4415-8fec-8bb0429cd91b phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:700836dc-c98d-40dd-91cd-1d707e058ccf phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1823156-d711-4fae-83db-12f5f330b711 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1841e507-b888-4cef-a462-11f6a289abe6 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b0a08e93-ab5a-463d-b974-3ef981d0603d phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e04606bb-dffc-4d69-955e-a3b2d621a229 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:220f74ab-4bd2-47ed-817f-3e4e6764e79a phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b644472f-c6f9-441b-b00a-9c8e2109fa38 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8223e38f-7196-4a12-9a25-a14f10cf2f45 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60218d0c-48d0-4d8e-a3f8-529827756997 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94c3d60c-3168-4801-b78a-9880aaa1c63d phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6a9dce5-bc52-41c5-9621-7e17e572247b phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:01b75e97-5c28-4f77-86b5-4e9a3ef45e8f phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7b749d35-dfa6-4d23-a084-a29d830c2b95 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c650bf0-5ff8-4ef2-8cb1-bdecba519aa6 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f25bdb29-d164-4e46-afd4-a245a2cc6f68 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75ca1f4c-3a79-4708-9062-7d1d05a0ab46 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ef123df-aa7f-4197-a7ce-cba5d972046c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d85c39b3-bf17-4b28-a615-c2ccc439a2bd phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7651dbb6-e7e1-4774-abb1-5114624073a8 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98f0132e-78c9-4f34-8269-36761f7f7be6 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14b931b5-a12b-487a-a114-c8a0ce01f691 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a23b8fe-1cf0-4325-bbce-f6082aeb960c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83e2adc7-fda7-4d68-a9ab-c6884ac3544f phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5146d42c-4ab3-4042-b02c-7649b7606559 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:081914b9-3297-44c3-8804-756019837c74 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d22a2463-c8dd-4588-8fe6-1be07359dedb phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fd76915c-e5f0-4662-8401-2baf506099c3 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7299bfa3-eb29-4616-93a1-537635259b98 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:782b2879-4fcd-44e1-a3d8-ddad885e2963 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0692cd4c-ef2b-4af7-897a-eee98ad3034b phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a03e2151-cc6a-4ffa-bdc4-40ed9d363ef3 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57ca83aa-df5a-4877-8057-e70420b07356 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5268e0b1-6c96-4087-90f8-8a964054df6b phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10476cfe-0dbe-4564-9b4b-77feb7579bbc phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c4d4497-ec95-4cd3-8207-ff722ab7fab5 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06932c36-ad33-428f-a3dc-134381a5f3ec phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60808c85-91e6-4db9-a9ed-8e5dbd878381 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7dfca0a4-3b5d-4d64-ae2e-7ad1ecb25ea4 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52d9b857-7470-4a43-a91a-abd082131aaa phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efbe5709-70fd-4076-9567-dffd33371251 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d01f1558-a7c6-48eb-b5a9-5c86e93d0ef0 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa47f3a8-4767-45c8-a393-da95f64b3f6c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:796c7dc6-1188-412c-be0a-a07d5b67996c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80d5d940-3f16-4e0e-910c-77f59d3266ca phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf060a04-3afc-4c61-b477-6c03e3051f76 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15bb71cf-f6df-429a-9d7e-eed27edace47 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:978be94e-db93-41f4-b061-623b3ff805f1 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cbaea82a-508d-498f-9412-9d9be7e57376 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11f6e430-9939-47ef-b632-7bba19571783 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c5c380f-c760-4fb7-93f6-28c5c820e087 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e512698-d803-4b10-a4ef-92e2967509ce phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9244414d-85e0-4315-9ae1-ac901b961503 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f718ffd-792f-4f84-bf63-57a2dbe82e54 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9de65592-b5a6-4459-b531-8fba06e1d42e phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2ec4ec7e-3677-424a-855a-052759ceddcf phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e235e75-a072-408d-b413-e4f00f098f9f phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29286060-4ce4-439a-bfe9-90460754cafe phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e00deae7-0bef-47c5-aa99-6202f9989722 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:caa1bd4d-2006-4295-8eae-31d000c04747 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d87e5943-d859-4717-aca0-9221f99fe52d phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:88d8d5a2-1cc0-42f3-b8d6-22194159f965 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:53cc6b32-7d68-4d4d-ba90-94fb1ef55acd phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97362f7e-2d7f-4e0f-93e9-30668d9330a3 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d6cdecd-c3b7-4287-a90c-3fa5c7aac51d phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:32c14492-9bb7-437e-93ae-04cb4b990289 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aef4037f-5431-468d-9f35-e9c83a348d77 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:38467307-1be8-4d13-a880-ccaf1b7bb6ba phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af8944e7-f41e-4d1c-a9d2-c4a1fcd6d723 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96751189-2583-4bd4-9b5f-df3d34cfb280 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb0871b8-f6f2-43ab-a159-79998dd67252 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74f73637-b574-48ad-a520-bee1f067736c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a893d3a2-62a9-4021-adf6-7f490d64d14a phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d662ae4-b171-4d1e-b69e-04cc4d9ca173 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3514e7d1-8f16-4913-8764-44fb8717a421 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04c8ed9d-3bcb-486d-8087-bf320a2f2e0c phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c03bff4-b8ec-4575-8a46-ee1606393c18 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23f82e22-33be-4859-88bd-f4548f6d6869 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd0a9c78-e5f0-4955-86ef-c2793b807fb7 phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:ac6590f9-441f-4fd2-b304-7c786147368e phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:b01c5dfe-f582-4eaa-ab0c-bcf2470a9038 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:99909343-6746-4b4a-bc3e-783ef4082351 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:876e9308-95e3-40c5-bcca-aed4112f47bc phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7ed956ee-1a9b-4309-afd0-6d83f43773a8 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:59c510ea-189a-4385-99aa-4e49cfe71c1a phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a49e2a8a-96fe-4017-8fab-71ceae97d039 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e7d6e49d-4c31-447b-9f3f-bd7aaf38941d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4a805793-d369-45ff-9b9b-3b2ee0bbfebd phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5fb4164c-6bda-4589-8514-3c175aba7163 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:eeaa1483-4d83-490b-8c98-68a2256c1cca phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bbf0335b-0280-4342-afbf-1e4075958f00 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3fb150bc-b4e2-44c3-b113-b0477ef39417 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3d75266d-8f57-490d-9014-ffb361671635 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9e102200-e444-42e2-b629-9c217251d203 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:83168792-835e-48ba-87dd-f71209528626 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9c4f1405-6aa5-455b-894c-31cd0dc5f73c phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c0deeae2-4064-4ce9-b6f4-51982a89f75f phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:45757ed5-ee6d-4dfb-83ae-a1d78b201abd phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2d1196a-4345-408f-99c6-23de5bfd1357 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e3e7267-6415-4044-8135-ea0ae6fac8f3 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13260320-d1fa-409e-8e62-6f919cd2931e phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ad638cd-0086-44c9-8c9a-add879d0ee5d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:846d737a-88b9-48b2-923d-48358a6a6e2d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14198bb8-4dfc-4c61-8d71-e0b0a1863d56 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80133973-a886-417b-82b6-be561d68a5cc phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:364c3c17-83fb-4041-871c-2be3292dd9d5 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d74ec5ea-ba42-4a91-9df3-d0dca71aeaad phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74023298-4668-41c5-80f7-df54c7a1aa73 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8dcf7f7a-2885-4758-9ce7-a8b0e9022794 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f89812b8-cf29-45e9-9f2f-1b6927f844a6 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4fcfd557-6fba-4a2a-8f0a-0d7986a91cae phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6cc8a52-624f-4966-ad40-1f1d8a08ab17 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0996a39f-2695-4f1c-abc1-107cca371149 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49b86c1a-3aa1-4dc7-ba6f-0781768b3abe phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:915e542f-c786-4ebb-8bd0-b170c6ff8f1b phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2effbed-5e8b-464e-9b82-c13ed37c5770 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:974f3f12-3267-4d83-8e6f-770ce64f8972 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5d69865e-b7fe-44f6-8a24-0889c32ee394 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:08f04605-3d28-468c-9a0f-bfa591c9d2d5 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1afcf89-6ca7-40b7-a38b-202dec51f524 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e664e0e4-12b7-4324-8e5a-c09a3cfaea43 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d86d6e5-902c-4ca7-8bbf-22e9bb087936 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:96c76ee7-73b3-4bbe-b8e1-27e5533f615c phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bdb1c10e-c2f3-4893-a4f4-800294a84942 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23bdeb34-a049-46f1-8c5c-8312590fa8f1 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ebed709-5124-4d5d-8672-dc50c14f9aae phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ff09cb1-a473-4573-a3a9-6ea45e4071ad phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e2e7fe2-8b37-4b8b-98d9-abc7539bd90d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9ecff85b-12d3-4d5f-a229-796a1737baec phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8b30b05-d0a8-42ec-9d36-679306b0b8e4 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69e0f3e3-f01d-4165-830d-713eb8633f58 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a479e028-a38c-4a43-8193-cd8c7de0fa80 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d654fb7c-29d3-486d-9cdf-5d995f82a90f phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:786f6769-7916-4561-8a9f-31ede59de821 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ad1000d-fb86-4d00-934f-a7bab18d6493 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1030ea1d-8414-4e96-a3c4-3d9e261bb6cb phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3dd15943-6635-4692-aa46-c01eb2b71436 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d52f4dcf-1ef7-409e-a501-55c48b6cb220 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f82550c0-827a-4d69-b906-ebb978961719 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c89a5917-7bad-4497-87b0-11f64c1e2338 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d06fcb2-c5eb-457c-ba54-79a00206b58d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b1a670f0-0295-4b53-b4d9-cdb17e78e0cf phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10ae865f-8152-48e0-88e7-b2c660c309b2 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84faf710-0362-4296-a06a-0828cc843d5d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fcf54bd9-4962-477f-b969-770a1324d689 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89aaee82-12e4-466c-b7c2-e7cd44bb03c9 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e780f967-4c4e-4d90-8933-1ff686995b32 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d043f69-b4a1-4a52-b45c-82a669f44203 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c9ea648-715c-4c69-8e7c-ba37f04ee9ec phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56ce12f4-ba8c-47fe-b581-da255e390bdb phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6a6ed10-e4d0-4566-ba1c-496359d46a44 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c673c55e-f6b2-4e36-98e4-e8500eccfd42 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:19603d03-8f3d-4a0b-ba7c-d451dce746b4 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:850849e1-6be0-4e15-b274-9ef0d9c2d6c6 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e99663e-9f7b-4c75-8677-3b0de430bd06 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8533df46-ba7e-444c-bef2-945028a0f95e phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0dbf13a9-2846-4fbe-b89c-0385dcf91125 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e6aa5ae-e51a-4291-b254-7f978c3479c9 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:26940ccd-6bce-4b14-940e-9aad0c3a9026 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c85c0d0b-903b-4492-a243-f2d54ae542b0 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59058dfe-f844-4558-a39c-ea712d6d0c68 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2b022b6-a288-4f08-beef-97bca21638ea phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d77a448-7be1-4c69-94d3-8745bfc02e22 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5867bebd-6403-4a4b-8034-55c7323b28df phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:040405cd-ee92-4d8e-83cc-19dd4be3726a phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e140d6d-123a-4c05-8bfa-f81e31451583 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:368bc141-af00-4497-82ac-f52c010250e6 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30c890fc-08c5-4b97-a97c-86f0718768d4 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b737f25a-90a6-4389-a69e-7fa44acf6666 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:730e763c-c967-4b78-9a8b-594b3e0b5084 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f75d1def-6977-4240-9610-a2dbbbe8b72f phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:24424771-dca3-440f-bbb1-061811082ecc phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8cf4f334-1454-48c9-878d-1d4ecf7947f8 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43bb1aae-75d0-4531-8d0f-d29c785429db phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d60c8b3-c685-432f-9061-0908d96d187e phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:647b7c1b-fd79-49d5-92dd-355b5f6953e7 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aaab50cd-ce00-45ca-aed8-98c2890d332b phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a0963f8-a674-4cfa-b63b-58dcfcae09d8 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f28450be-5d35-461c-a439-020bc6b3b547 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94f0b4ad-8410-405c-b4b2-7858f057f28c phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98088381-0654-44fd-90b2-4e51abe6cdae phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb5d561e-8500-4b49-bc79-5f74dda2f2ff phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0f0f3292-93e0-48e3-86d4-cba37847b1ca phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fbc43d81-ae3f-4f67-9c90-cabe2817cb98 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bbdb62a7-fda8-420d-9a7f-3fecefdb59b9 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f212c336-1a4c-4e7a-a185-c0055f787482 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12729317-ad73-425e-adf8-68493515a77b phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e521281-5013-4ef5-be34-b76dd183881a phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6284393d-7602-4054-a8ee-625fd6de4379 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd5f0759-a4da-4338-8ccb-ca9a5178c1f9 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35cc9957-346c-4296-858c-4b8cfb636240 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2fbcf70-d08b-428d-8006-5999e7dde317 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5479d77f-851d-482c-913a-201ba9e53c1f phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3568315-ea4f-48e9-9f66-95f6479e7c4e phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ab25186-6fb9-479e-be64-9d771b7f7080 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b2b62401-2ec8-4734-b8c1-eba9e0cf69a0 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:23f6ae2a-7de0-4c55-ac9f-8b1335df6683 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9a44d1f-8052-4693-a603-c468b832c0ae phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30910891-3259-440c-a1a2-491a44fd2c2b phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:27c95323-0260-45e4-83e2-ee1f2bfecd81 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9749f79a-9269-45fc-9909-fd8da5736470 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc239a62-35aa-41a8-bb9a-b2a3833d4a46 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb5a0eae-af9d-4303-af6a-8d1e647a3abd phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0516abd6-167c-4bd3-8d96-64220d2d235d phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce5d0e1d-24e0-4804-b80f-2524e222dc67 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86f1dd08-9551-4e15-b2c0-1e21f080dbea phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c3301f6e-8b58-45ad-998f-bbc30a069cea phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:56982479-e433-45c0-af0b-6eb934bd09c8 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0200b0c-ffbd-4801-b163-c947072b9e1a phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a66ff3f5-31e2-4dde-8700-eb147efd78b6 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bf753cc-8c30-4f00-a9c5-bd82fff5dcaf phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c9c5ae4-2655-4785-b0b9-7096ea19e5b3 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52ced62e-722a-47ae-989d-f61077823c6c phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c954564-b9e5-4cce-8192-7f0e1d65d924 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f8e1be94-9092-43ce-80e2-a97b3e56dbd7 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f7ed2e3c-fd92-4e18-bbb7-b7f1f5f66231 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7dab6bea-c1ee-4745-8d0f-8cd25b426bfe phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7451dbf3-aa21-4a9e-861b-dbf255fd89f7 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55e8edac-2a3f-476a-809d-0f2ff05d0b0f phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:636f24f7-19c1-4de2-9174-07f4030fdb1b phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20a41797-ee1b-4777-b8ef-97831aa39d4a phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7951dc83-e909-4bcd-98a5-5e64dfa61b90 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c24d3b9-3301-4623-8f5e-1fa72c6aaafd phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c39af430-3a81-4b27-b784-d2e5e5b1a86c phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b64792a2-0e58-4c29-b274-c102179a1b6f phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fae12265-4abe-46ca-be76-37580bdbb9a9 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0322ea86-6a35-4805-a5df-64a0db58b1d4 phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:37962958 uuid:89817b94-145f-4b28-b347-90db470b55bd phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:7d6733f2-2458-4692-a559-26505fdc641d phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:28c9cb6a-deb6-43a3-a5a3-cad67703f221 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:92ec1770-b7d4-430f-a303-f686ed1a626b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b47fcb20-aec3-4c00-9e84-d24084ecf83f phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:81effa0d-d52b-4c7a-860f-52059a1c160a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b433faad-20cb-47c8-b29b-24d022ed8801 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:033a59ec-32c1-4e4a-afec-2e086edfb74b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2f4ce145-aae6-4073-837f-7e5dbfe10eff phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8d6509f7-61ee-455f-9dc4-835a9c21cbe7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e3b7cf90-2b38-41d1-9f54-ed9027f55be1 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:bee6091f-a556-4f30-9499-2d47a6473eef phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b7111722-9ee9-44a2-963b-98dfbd6f31e7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:db15b741-df4e-4acc-8a5b-230df2a932b8 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5f84ba43-6ee8-4ace-9434-5e1af30f4f62 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1a7ad8e3-4ed8-4913-b6f2-a918c548cc91 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e357cb55-4101-4c17-8ee0-dee8375cb101 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aca79ada-2e01-431d-b635-449514207162 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9785b570-dd0d-4f09-a41b-2515ee8a17f0 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a7e2cb97-ef78-403f-ab8a-ac742bf159c5 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:429ba2f0-5265-4a0b-9825-97a9ca526b94 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b47099f5-ed5a-430e-8bfa-121a7bcd76f1 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab06a8ee-505d-41fa-af08-6e280d1b9952 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7f55bb85-07aa-42c1-bdee-34f760b84982 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:473435e6-f610-4357-9527-8506518ff5f8 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c64da8d5-16b1-42ca-b7c5-b11b55b6f62a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a172731-fbe1-4a91-8195-e7ef734b45cc phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:17473ed8-75d9-48c2-8402-a2190f1b2a6c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:76bd73d0-6206-44bd-8f4c-9dcb18329c51 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:22b87a6a-a2cf-4a76-b4e8-00d6178d2b9c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42ff9076-b6c0-4c41-8e93-a2af9bc3803c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b5ced16-7843-4995-9646-2171e9b53008 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b25c74ab-e0aa-46bc-846f-9f873ed5c973 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:37df8d38-7cbf-4d78-b59b-fcfdd48d7861 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:218e8c46-4e4f-449c-9d6a-696223214cea phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6313e132-9666-41a9-9b58-5b4e91ea4ea4 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97917aa6-9bbc-40a6-9bce-dbf736903767 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad0a2f50-d359-4e60-9e87-4f365996e4a4 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:082b692f-6896-436a-8ecf-990a65484ce3 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eef13338-25d3-4644-8044-8063a3238742 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8daaa9fc-84e0-49c1-9238-d596d5298c49 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3e9a783f-c01a-40c1-a9e1-957f5658a513 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4efda853-b1e5-41db-9e47-cf3fb03795b4 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4ad4b978-5361-4ca7-8b43-4727125d171a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8827fd61-c4ba-4e97-b521-fc87f52b2b9c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55af1b77-c56a-4727-babb-89a1f1e59f81 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:575ba6ba-f5e7-4a12-9b39-5cb7e1f615ac phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:766b4843-b7ab-462a-a18d-73796d675138 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7191506f-81e4-4adb-b2f1-8cab62675953 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2bb2d690-364f-40bd-91f6-413b091d274a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5aab6160-109d-4bfd-bb34-7a1da8db415e phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:699091ae-d62e-4ca6-a215-e7fc3e6fc093 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:05940141-687a-40ed-97b1-402dc2facec9 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20f4ccaa-4987-4199-ab9f-c22f1f6abe46 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0536eff5-9fc7-48da-b970-aad9b37237cb phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef49db82-0163-481e-b6ae-c01de17a5e47 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e013439-3176-40f4-9ddd-41cd468515f3 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61d0c03d-0f2d-49f5-a5cc-e2c828282526 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:89e748e8-de8c-4317-990b-764c27c5d5ce phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:883ceebd-a6c9-434d-aa0e-64fdf7fd745b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d952e529-8417-4bb1-a529-c3b6bcff1b1b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a99bb670-55c7-4ea3-b24d-d0201da5cc0a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1c288eb-6a9d-4f2c-bfe5-b86b5610ed33 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3739271e-bc4a-4a63-ba20-c65ef6910752 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b67b177-aef6-4952-8808-88b460d112af phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e28e882-a57b-4766-bdce-316a453c6500 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a65a3a19-ee73-4131-964f-ca2d0c5f6b35 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d01c68c2-2aca-48cf-b011-871317712672 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a9e31158-3da4-4b58-a226-83caff46a8b6 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18204c0a-bdd6-4ea4-bf50-d9a577ae8357 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:42f4776e-669f-487b-8643-78785934a0a7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a5092d3-abde-4cd0-9926-4f923f53d842 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:acd005fa-023a-427a-91d0-f3024df65c63 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:abdff141-df35-4e18-b3cc-df82873927f2 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6e3bc081-3784-4691-8216-cacf88a55bb7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73fc2793-fe8e-48c9-a767-bfa3fd94f6a9 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7406b3fa-0646-4c3b-baae-7ea0f998ea8e phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7a932d3-71c8-4ff4-b3a9-dbd3cac6e2f7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6df32bf2-d66a-476c-9d5b-7aeb9c139785 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31b0dcfc-057c-4320-9f17-8cf2ba17d293 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30cbb393-e1f0-4a47-bf85-527deb1bb2d6 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a341214-97a0-46d9-8d71-d52a6b3cbb80 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71b3379e-6f13-4e5d-9994-b65680d14147 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:023a33be-7fbe-4bb0-b76c-e1d3157efcc1 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac6e4999-de9a-4dcc-ad08-b1fdf9883627 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:443f6fd7-e342-40df-a20d-87d890d4ab81 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61af930c-88b3-4ca1-906d-a8d45bc29075 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a19043cf-9a0a-47f2-85f3-02a4da915e50 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fece7d2a-4ab9-4187-ad21-96283d50bf5b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0cae8db-2331-4106-97d0-3151ca0dc753 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e9b0e4c-58d6-4aee-95d6-3326b4dd5194 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a172601-0c03-4059-a2ff-30d105ad0512 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:370f9781-f050-4fa3-b095-8c9cd899792f phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1de20629-380d-42fe-aa43-141fa9b0c1be phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba5c7586-a7ae-4066-9d69-606af054ab8d phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:420bdfa5-16b7-4316-90c1-09eed9e51a88 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e5d9285-d356-461d-93ec-5439ec8fc8e5 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0c3229f-0d24-4fa1-9531-923dda2e4f23 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a912e18-515f-4776-a7d8-bac778b397a3 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:637bffda-7378-457f-94b2-900a30f1b4ce phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6154445e-c1d1-4af7-b9c6-9f243e287ae7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70d22370-227c-449b-a909-c5fdd2912e4a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:be00513f-4bbd-410c-a886-50b7c4221f40 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0d1a3aff-3610-4524-99d8-f0ed5c74039e phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9d893ffa-026b-471d-8e4b-f86dc817c6e4 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5ec2f71-80b4-424c-9079-0e7ca09a818b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2daebbf7-d8f2-4d2b-94e5-098d67a85a57 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c82d0a7-9fad-47ba-b4a2-fc5d4c9eaa30 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c1cb9fd5-8b6e-4ad3-a47b-1c174c0e1694 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5ddaa8b3-d2d5-4b9d-ad3d-abcf614d777c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb3bbab8-ce38-485e-ab25-687cd04d0918 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c344f4e2-7453-4bc1-9a99-b8f96ee5f1a8 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2e43068-a6eb-458f-88de-b9a110d2fcb8 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16997d35-b3b3-48d5-8b7f-3655a8741add phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0981a82c-78c6-46c1-829c-761008a36789 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e22d9ca-52ea-4c76-943a-24e1c738d217 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6a4f7069-df6d-4266-8d73-9c0c1731c47c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98c00b4b-0127-4569-b9be-7ad3af31d257 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a877b74e-1c32-4fb6-b51f-895a449a804d phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9f97fb3b-d6f1-424d-87b8-f17214e4b3af phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b5b37a2b-6758-4a6a-be39-d60d962612a5 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e93d5357-6dec-4984-82ba-79dc7d08c27b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:13cd4ee2-10c0-4135-a7d3-37df1ae94478 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ea1bc023-d90d-4391-a3f3-40eb35f62ede phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e8f9f733-6910-4ac4-b9a5-c506ab9bf94d phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b6a20d3-aa83-4b31-a8c0-7d5734cabe63 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2560da74-b8fd-4420-82d1-ffc08d29705c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70fd0916-721c-4d70-94a0-ba3642828cb1 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:99d54b77-7b85-4609-a61e-75c1f36aa295 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73ca3876-3a1b-41c4-bd73-76d29b4f35e6 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3bbd210b-8eb1-47f0-8357-9996d56c4f39 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d1008ed5-d2a0-40a1-b711-8d63bc75d514 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3db50b4-5ec5-45f2-913f-c1b5c5a490da phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86ed4568-1844-4a60-9f97-968e07a137e7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c3f29dc-eba9-4528-80d9-8f50e2cc650b phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12b8d56e-94d5-4692-a5e8-1f65f29f1706 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8f04bd3-b940-4b0f-86d8-5e71715e48e6 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e50baa15-88a8-4193-9e59-ceb562720bff phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a0aef4cf-ea5e-4245-9cee-83e1207501ba phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2c1a9bc1-86a7-4b0b-bc00-e01e90ffe379 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:415aa0f4-edc8-41d0-8b66-00a8cfb6fabb phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7a7ee2e2-aff9-4733-aaf2-d73ee9f07c64 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:824988a7-543a-44ee-9330-de9010d0e505 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:317e642e-cb07-4573-a3d9-a067ff16c0da phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a8cdfbe-1487-4ceb-8d50-ce19d48e05df phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31b84442-4132-4565-a771-de48dc5cc15e phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b425438-34de-4f89-ab07-9d8be6f8e83e phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d228577-f214-4760-a4e1-82d34dd0faae phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60ac906f-f4a4-4c07-b9c0-f69214826d4d phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5acd08ac-1b3e-41df-bbac-d7dd1d372cac phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2b4c4449-acd3-48a8-973f-6eac5f8eff71 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a0d83b3-b1a4-4e29-a254-453ccf92114e phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:127b33db-00f9-4695-9626-dc994474a1e4 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2d2dc59c-8ede-4186-a021-75d2c2239392 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa4493e9-6954-453c-a3d1-2bcc31d56d0c phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c04d74cd-4f66-4d07-b5f5-5ff9009627ef phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf4bc786-e443-4ada-8a60-379f61b0108a phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:e2090e00-1626-41b4-a0dd-36fc12e855f7 phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:56c9f4e4-50eb-4cdb-af3f-a0b79f3543b5 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:febf526c-2f97-4f58-b2cd-6eff19b08064 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:9759fa09-b1f5-4977-a38d-f2c094c154a9 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:092da973-e341-4c91-a64b-7a1867d1f7d8 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0b312d48-173e-4429-8d91-c33188d81165 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6f52a39f-8e04-4632-86e3-41bf0b10e6fb phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:89feffe6-414c-4bb9-b83e-7291e04c4241 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:140e8574-9473-4d6b-a13d-1fad9816ec1f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:07a64357-2287-48bd-8091-f98bec6cad70 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:6b7ccc54-1a6b-4567-bae5-da9e5e851ce6 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:8c0d9ad8-feb1-4cbc-867f-1e02a3a84bb6 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:60c8857f-a1b4-4b97-95ae-da0fa6e0841f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7d2d3b74-2d4e-4eff-9c45-582f96256ab1 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:76b7c077-2c03-49be-b3f0-12d8cb5b8ab2 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:38365630-1d77-4837-bf41-3a8d1f0910cb phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2c5999b7-0077-42b7-9ee0-48f188519acc phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2a07506c-7fb5-429b-b45b-6d49e18a4b10 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ca4f7d9b-a8a1-4fc2-b4b1-74abd7886a0d phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:cf2c54d4-66a7-45d7-b6d7-1d8a2aef179d phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:3ba66a49-fc23-42b3-aa38-37fd37c03dfe phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e22e0046-25f3-439f-9843-28de23226596 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a33bf6dd-846e-466d-a4e1-c74e39c725b0 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2b4b9cc0-c343-4e98-8271-d291372d234b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:4eac5a73-bb7b-4556-ad33-2438b4ce9887 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6226bccb-a51f-4258-9cc4-cf5f92191013 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a8a225fd-479b-42df-915b-656fcb4f6957 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:959f2231-5dd8-496b-87f7-03dcb8d5bec7 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9b942bb1-0147-408c-be45-530786867a56 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6f589de-73e2-44d3-8501-b31d5a4e9ecb phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cc3310b4-16da-48aa-b40b-16cc05c01a96 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0b68dbed-cd0e-4e71-b94b-f39c51b9b768 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a790f1e-bfcc-4813-bf10-de53a77c2439 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aaba4f56-1c65-472c-bb87-25604c14b8fd phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25ee3c4f-5b6f-4b7a-9c29-062586f56175 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:348bdfef-0030-4220-a651-101bc6ef0428 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c7a8a684-90e3-46c2-b44d-5aee777bd7da phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b709bfd7-b44d-4917-b11c-f80abc0346e7 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87d61f68-1c6e-4927-b560-7f25e800af86 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a55e53c5-494f-4969-9e4d-1cbbb0789acc phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1fc2e0be-d904-4420-bf18-f0fa8581e32e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d3ab276-d1b0-47ec-aa52-1d0d54394f38 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62d5ae72-fdff-44e8-93c2-23ecb7fe1d7c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:09469e8d-52c5-4fbd-a9ad-52b0d437802e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2a6905a-c8de-4a54-aefe-68d2864603cc phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7054613c-26a4-4c54-ad9b-3d01834752fa phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c98fb407-3a79-40c4-a142-e65aaacb65a7 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:54aab2e7-4394-49c2-8bb5-14cd2c43a701 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07e2d2ef-d1fd-4f9a-97d5-e335e47998d6 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15ddb2ba-6484-4287-a9c8-bb128b8ccb43 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:302f6920-c4c2-4ed0-a759-ce834f51dfae phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:97050bc9-9e22-4f75-ab00-171c66029577 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a21503a-4cb6-421e-bd01-d11f6fb34311 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0fce86e-1a43-4237-b93b-3ffb0ffb25db phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a4c17e8b-7471-4cd2-9855-9828bb15118f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d9c27b6b-5acc-40d8-a5b4-9c7bb45466ae phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bf97cfb-51aa-4502-b233-5272175cba8f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c461fadc-0ed4-413f-bb77-f28cc8e6502c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6ed5054d-013c-4db1-8ca7-406adaa6d6de phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fda58b1-fd25-4fe2-a631-c20d5e078a9e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55aa01fd-6db8-4a5a-99be-43c068de62c8 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:024ee0a2-30ef-42a2-986b-327b5e9ad40e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:046f13b3-45a6-4149-a508-bf9f32e5374c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2871d357-2ae1-48f3-ae7b-f24a423c2b10 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8fd09aa6-1900-4571-80a1-a08bacb42787 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf17202f-8d15-479f-a09b-27750817108c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03e23d31-06c1-4d95-b304-125ab6d98236 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad04b0d9-b60a-43a6-be3f-2fe6e595ca0b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ac09e24f-390e-4c33-b390-a074f227a49a phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:02892739-0d4d-4ab9-b411-737bc83d2edd phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d27f5f5e-e016-4297-bfe2-c7b401526fab phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28a2e3b3-df87-4fed-a6e3-726c793c180e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:07da8199-3777-4a4c-bbb7-34d8935b1497 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0f613d6-3f6e-43c9-b6d9-3c2b75041b58 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e59c114a-9878-4407-8619-9788d406cddf phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:31069025-6643-4cc2-9354-febafbbc4cf2 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b862c72-dfcc-48ff-a3ab-354d63f85cc4 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:503a7bf0-4bff-4a40-ad2b-ea0f3fe52936 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:70a99975-312c-4275-914d-74d7d37a62da phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10f84409-8e6b-403c-8931-f89e2a74f916 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55d84519-6c87-4efd-9a47-976b140b5fa5 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:889ac933-1071-41eb-b68e-2573a36332ac phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:50db9583-b66b-41dc-b34f-aea9e7a48762 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f1247fb-4775-4e72-80f8-781973c42b52 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:048a2e86-a9fa-49d8-96da-ab71818d2f20 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef99a90b-9e85-4538-a370-7702b06afcfb phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa4bbc12-d66e-48e6-8a1b-1ff44aa21fbc phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2e8f3f0-7b3d-4dca-8446-e96df9116076 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb5b5196-1bfd-49ef-83b6-936a327b367b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d33c52b3-87b5-47fc-bda9-97cac1feb8f2 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0bd1d3c1-b8fa-49ee-b51c-307c35996d1f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47ec5bf9-f115-400b-b683-5b0e3763f4af phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18b6ad24-1c4d-4c80-80e6-7f931430b496 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:18e5e377-b045-424b-9a05-5e45565cea19 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7ae856e-7982-4954-b28d-6c2ad5771f1f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20cd27ff-498a-44df-a41c-eff8285c54cf phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:794ebfc6-cf01-4217-946f-fb8f3dd7f70b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ceba2d21-b015-4504-b61a-47772a4fb892 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dbf67da0-45b1-4ad7-95cb-368f9934cd2c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a251adc7-490b-4782-a4eb-5d1fb492951c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:74d9a546-1966-4e65-a51b-8d9ebbc64637 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61e75957-2b75-4072-9ec5-10d3433da803 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:06fb6679-d54b-4672-bc4f-a1d061bcd6d0 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2fe7c4b1-16de-46fb-af42-3c2faf7b3b9f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4d5eafa3-7a0f-400e-ac12-5e5f78714418 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cba985b0-b8b5-4ace-b200-a40835e3d434 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4550920b-d095-4e59-af16-fc5a0d1d55ec phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4963d9ad-6af1-4e1a-b689-dda0d3cf05e6 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12233a08-9091-40e5-8000-b475cc595311 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6231fdad-a1e0-4c60-8416-cc9731e889e4 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d04a50a3-e47c-4425-8a5e-a294b7f92c6a phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:211f1e62-2284-43b4-8c8e-e5987399ed55 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfd15fcb-1ae5-4e76-bc42-c05d184077ce phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5fc35724-c1eb-46f0-ae11-976da43ace39 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dd96284a-1969-40a7-9a84-4155b2f24afa phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a7c222d-163a-43f2-9f2b-9de1b1a08149 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46474626-de68-4d00-b3fc-5b10afc0513f phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:45099a66-e402-478c-b30c-feaf876a91f8 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:862178b4-03b5-4cf3-9ef7-4f90f8e63e6b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b55b4616-1b57-4ef3-9869-499868d448fc phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f68f4a42-d020-40b0-b09c-e72b285cefe3 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:49004a62-2754-4976-a3f8-08b758b730cd phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:25b1130d-6b20-4433-b9d6-a9dd5e566990 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:af2d6fea-20ae-40d2-8221-8d7178a1c43b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55f5cc82-59e2-4726-8544-d29a706b68c9 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35ca23b7-6feb-4df4-aa05-8dac0ae4dd14 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0cc69082-3d2a-4e2e-8534-c24ea7541063 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f512b398-ffa0-45fa-ae71-3297f5417799 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6503919-cabc-4a2b-8d9e-4be53a0bcb6b phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04e93d9a-57cb-448c-a599-e1de448de353 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f776d772-331b-43e1-8a3e-f5763db0f30e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:541bea49-2429-495e-a82d-c9c3bed4dd55 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:659185cf-012e-45ba-97c2-69497b3a0018 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9340349d-811d-4330-99c8-051123c9dc83 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:244f575f-c1f5-413e-80aa-3c0e7cac0a7e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce711ce5-bb1c-4dc2-8ca5-13dd37cf8af8 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf459e9d-49ab-42f7-bc89-2d3d308f18a9 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4afe5520-8ba0-4aa5-a457-efb346508503 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a2ca961e-0693-4b50-bc5a-04366349bb79 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e6e0827b-0e47-4e2f-9f82-ac2c91bb58a3 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f6080e82-44b8-4627-b87b-9b5e593e2b7a phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d25199f0-4a69-402c-8f3d-1dc2b8bf096e phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:60659474-e84c-43a2-b689-4d5f09679526 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d572e04-787a-4643-b18c-c4eb433ef9d0 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3ebbd179-a8b4-45ac-a435-6bc602b175c5 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f2c01ccb-4314-43b8-b386-82ae0162fdfd phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:29b39b9c-147d-45ef-8635-1ea07841d315 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:adb53a90-76a0-4da2-89eb-f76c1dcf3129 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a332e161-b125-4a30-ad41-401b98e02ee8 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf7f8718-7dd6-4dc5-9f27-0c64dd0fa28c phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation P3Y6M infores:phenopacket-store PMID:37962958 uuid:96c3720e-1d27-4b48-b107-044e3cd15569 phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:553c1da6-8d19-4208-8416-7e3510de1acd phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:dc2439f5-75f0-4dfb-9467-04135e56789d phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:afd5deca-eedc-4e49-b4cd-9a21a9e2c036 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c9fbfc36-b409-40a2-bd37-980e439a1bc6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:44a3d151-e5d9-46b8-ba95-9df904029c90 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f660a19f-e2b4-4da0-a131-4a77bbddf00a phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:90f968c7-d844-4659-90da-d2f22c5ade84 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a12c78f2-0019-4d02-b47b-0c5627e7d364 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:ce75b482-5127-42f6-9773-51e308f20d75 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:0d2d2c39-9520-452a-bf26-6985166b222e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:f4f5c3e9-3f5f-4943-9fd4-2048289e6d9c phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b49ea24b-19ee-465f-b360-2ad6b3401584 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0011172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1e3e114d-7c0c-4486-8754-cfd8fe4c792e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0025401 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fa311940-bc79-4c00-8127-1fa200359550 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002133 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1ff45901-85f5-4dc2-aaa6-31384862aeb5 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30cd4019-9821-47d9-a262-44411adebd2a phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eaaf8636-d570-4919-8f14-617bff1a8675 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:39456c3e-30c3-40c7-a5e3-def88b85fb7f phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5122eec2-be9e-4f61-b651-6df276d05c47 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:602f1552-275d-4d37-bc13-6387728e5b70 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2458f6e1-0ce8-4855-80c2-bd1f49be2eee phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9ad9f64-29b2-4131-9499-ab5110a651f6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:83256dfd-a606-411d-95ad-7f754a2f3b5c phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1df8fb73-52a2-49c4-bb82-6ff957b7b156 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:36af9a3c-154f-4d32-9b7b-d1ae2c2ad1bc phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f50beece-89b8-4aca-afb9-e4b1569a05b3 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87997ba5-1a8f-4859-b869-65587f3fcbc4 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:fc4be610-431d-4cc8-8c4f-455af966faf0 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6327cae1-6bae-4758-89e6-42f893d79e50 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ad678e1a-c974-4baa-9217-8473dae62e43 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2839207c-26bc-4fab-932e-e252184fbe9d phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:80db257f-a8b2-4f5d-a9ff-f79b6fcafe6e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64ad6297-fe3e-484f-af06-cc537cf6f446 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b243e10f-6ae8-4050-9206-7a9ba87e2e06 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d067bef-512d-46c8-905c-6b3a9ece7624 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f795b58a-0651-4530-b446-eba54207f7e1 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12f5b53e-5151-45d5-ab61-27f6d26a1bde phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:026e43bd-3cc6-4a7e-a65f-5e0a13f0bc19 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52d559fc-4023-4e50-89b9-d4b373fe2d50 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1bc59638-de59-4024-a127-6fadbd4cd3a0 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a3cef7ab-539a-4b16-9866-863e6be05b48 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:725720ca-44dc-4e90-a064-3a43b21737c8 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:04c20b9d-af95-4779-9005-c726a3b6be2e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:858ffc7c-dacf-4153-9424-92ba03560245 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:14ff438d-3044-4bf5-a962-4c8d04d3cebb phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:681580cd-1bc6-4147-81f5-c88b7047e83d phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db817f21-8f2d-4c60-b2ee-0415349ef0b4 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0025573 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52339c39-9fcd-44c4-86ca-f58b4307ad4f phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0012803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a19430f0-7959-44b3-8eb6-fdff48124af6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bf52d1bb-c638-4e94-a198-69519c35983c phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4e008f69-e256-42c4-bb61-509a24326a73 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000666 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1fd1958f-f762-48f4-aebf-f3e09251f2cd phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:57f31f8e-22ac-4fde-b6e6-3c3c04e60adb phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:efc51a52-8e87-4428-be3b-441231ef9340 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d296b137-1060-4a54-a97c-e2171cc86078 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bd107108-5c73-44eb-a291-dadbc07ad435 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f5c87297-5273-4c75-bdc0-aa1421a374bb phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ea2bd81-143f-4db1-9bb6-0309a82911aa phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:12d5db8f-d746-45e9-92a4-f0985392c3d4 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:78db739a-b51e-49f5-9bd9-ba70c6fb0e71 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9714110d-7877-4ccc-8718-4efcbaf70a22 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e81468d-afac-499e-a6f1-fd2d1351cc34 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0030838 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:458c7cfd-31bb-40b8-9e75-2c04fe1891e6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7e2fce11-4121-44af-a977-0cee9dfbe422 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0003396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ababd7bd-8251-4ca2-ad86-cfa038af0aaf phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:6000184 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0c18b2d1-4685-4d2f-bd52-8713a557e99b phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0003316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c9a3e6c-e84c-4b0a-a7e7-728f28e81faa phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9e0b1fec-7016-4008-8303-aa65b85226e3 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65296372-f156-406d-92c5-c2ea293ac922 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b6dbdce6-1365-4d8b-a768-67f4c745bcf9 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7abd2ad6-f9d5-42a2-ab9d-d07d91aafd32 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2089303-f2fd-4a14-9777-644f1e9ba447 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:007831c6-eee3-4c03-87a5-81011a791a03 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69134f36-4edf-4b98-9f37-43c8cfab11b2 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a5dd057c-019c-4ee0-920b-b0abf50af40d phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d50633d3-ab21-4ad4-9e6b-4d28bb59d066 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3593b20-c465-4964-95e8-88c2b4844538 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5b77cfa3-98be-4834-9a14-da91fb260200 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:85c98899-cf1d-41fb-ae62-56db590cfd50 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:61dcb4c5-ede5-49cb-9d58-ad08568b1093 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb85b9a0-32ce-4127-a569-a9c9ccaf9a03 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e9823465-b4d4-4814-8fcb-6a38a181e587 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:84c0e4c2-bcbd-409b-b198-42d2fc973fe6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2a818f8f-02db-4f86-9907-798095f9cd65 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3a493859-baa9-45a0-a56a-70a7661fcfc5 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:30e5df27-6395-4b51-b1c0-20f7e5e8b6c6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47a1ed11-11c1-419c-b72c-a7c5d716e7c6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:64587eb2-22ab-4f03-b201-4bdcd92dc08d phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ef929c91-28c7-4fd5-bb81-ad9f88969828 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35bec356-1037-42fd-a914-3469f665dda0 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a67c9589-dc10-4a76-a117-b2f89ebdc344 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e7d3e09a-2b28-42e9-b8ce-1057f8032d14 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:59c091e5-6ae3-4f65-83de-fc8ead483b85 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0634a2ff-eb9e-4a0b-906a-ec2a3bec495e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4146ed79-8de4-4af4-9a4d-425722601ab6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:429e178a-ccbe-460f-b530-5b89e4b258a0 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:747e29f0-0807-4467-ab3e-6ecc88204eab phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2890cee9-d4bc-4eab-b6f8-9905570b760a phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:903e71c8-6bf7-4c1f-9bc7-7d116fb01085 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:245e7776-9b96-465d-a963-34d98b9b31aa phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb193ba4-c622-4884-9bb1-1924f1c8a8b0 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ebc4cb3f-264e-464f-bcf3-aaae5ffd56ac phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ce269f1d-9d51-4bcb-8647-55c48c3d2137 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:86355359-826c-4a36-bfac-446dd18d4be4 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dbc43765-a23c-47e5-8616-d2ab37714adb phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4a7b8f44-dc0a-4424-81cd-bec375761a4a phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f57e430a-367b-420e-acc9-287ae112322a phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8ae23135-1346-4dbf-870a-3d7b88677a8e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7da83473-d66d-4465-bf30-63a4de99217f phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:43468a9b-cd49-4afe-942f-5476d23f778b phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:52fac877-34aa-4bed-b2ae-78fc0f3b52e1 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6451a747-eb6d-4a7c-a781-4f1cb6d68597 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:579329e5-94b0-4a20-9a9e-4fbc14b20809 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b7ddc60b-d37e-4a95-9fb7-bed872720f5f phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bcb3a3e2-cb57-4238-b0c2-010c08d4b9a5 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8d8c3eb3-8813-4ab6-9639-cf74052b505a phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:20918e7d-cc76-4cf7-9004-63be510312e6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db4d4cf3-7343-41b2-b746-44216ff7f2cb phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a2bd74d-e1b4-4238-8bcb-82b20d71c79d phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:15a39489-a6f1-44fd-924e-26d27924b24c phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:eb652217-16e6-41a1-9481-04ae1bf26030 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d740f62e-0808-4333-ba24-f3512b299f73 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5e52b8e8-5abb-477d-98a1-77358c84ffb2 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2574cc7b-e400-41e6-861f-51b9b09189ad phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:221e3570-d478-467a-bd12-b52e7f70b161 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33718fd1-4d6f-404d-a851-39768c6c0ee0 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0ffbbffb-2347-416c-9f13-4cb1395ee55c phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f0e42b7d-b850-49e4-aae6-1a43a59edde4 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7445b5bb-a6ca-4bc4-b2e9-348d6d32efd7 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7fb8527d-6313-4eb4-825e-b653921886a8 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:939d9e10-2f37-4324-b0c6-6cacae8a2ddd phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:71396f89-e914-47fe-b4b0-f9f1425df752 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:aefa0899-b4a4-4df2-95ba-465e03a05132 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0205a5f1-96f9-4052-97d6-cab05748e742 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:461dc825-26f7-459b-b232-f8aa87151ef6 phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:ec41949a-76f3-4c42-ad65-016b1203d76e phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:8490c24d-a417-4d73-a330-acdf86d999f5 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a6c97003-0c29-4e47-b5b9-af62ba05a90d phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:2f6a3d8e-0e1b-4d97-b201-09cc562d3fc9 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:5ca02865-908a-4284-9e0d-a87087c04860 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:e8a0908a-58b1-4415-8d1c-c2ff0630021d phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:fe07da44-2ecb-4674-a508-777e99e5bebe phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:aedebcf7-9e48-4636-b6b7-99b5b0893cbf phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:634f3d19-21d2-4a56-9f62-b86430e76b3c phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0030820 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:7475481b-6cba-4946-957e-ce669454a96b phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:a3fa0811-28fe-4b94-9a45-84fa7222b670 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:92c5eef2-bf8e-4b96-82c6-0ec1b6d540f1 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:84fa4b17-2525-445e-9a95-a7abfe5cee4b phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000160 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:c1b92635-603e-4c08-ad71-a607c86b1707 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:b50e4bdd-cf83-430c-9112-40ff14950849 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37962958 uuid:d8e22547-b173-41f4-9577-3abd5de4b1cf phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:139e4eb9-65ff-4ffa-b830-2420d1ff2d18 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5c39b55d-bebc-4b8a-8692-f0aae27de3bf phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:33d597fd-068b-4a04-97ec-608a26bbba13 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:962d630b-3a7d-4c37-9974-d9ad724562ce phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:850fa4b9-fc73-48f7-85f3-e93cf24060d8 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bccc285a-3660-40fe-8828-382e099cbab0 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:949c2972-416a-4df3-bfba-b2cb987397af phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a039c51c-30ef-4748-8ae6-6e62892b2691 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4c685dad-9a43-41fb-a73b-e6dcd75530f9 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002389 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9a21bc1a-acff-4034-9f9c-99c4783006a8 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d2f2b3ac-0408-4421-9fe9-a831cbcc186b phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:16f4bc09-a6b3-4540-a31c-3c89a30a41b2 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d0cd278e-be5c-4916-a9d7-9105eafcd1e3 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ee62516d-d8ae-43d4-bbfa-342ed48a03d5 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:55adb897-b154-412e-bf6c-09c0761ccf62 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:94929c82-24e0-4cb3-ae17-559cc7f47cec phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c2f3ea8f-44fe-4feb-9eca-731ffc1dbb6b phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8c749790-ae83-4239-a654-21037cea1822 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de70ad85-cf7f-4433-8bfe-4841c5eb1ab2 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0012745 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfb56e31-73d6-45bf-a420-0f1c10fe4dc1 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5a8a1246-92d0-4c2d-9c7f-d36d39e76691 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:2e3d5f20-5055-4eff-b125-695d441946f5 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:5cd71288-032d-4712-b888-4ce8836df94a phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f9f8bb13-4eeb-4c8e-bdf2-66198f408a98 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:90d7b137-ed6e-4d97-8e16-61be45fde079 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0045075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:91b8c5fc-debf-4554-af90-8f6150396e04 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dcbbc422-6dca-42ad-b159-29a4efd388ff phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:895e8ba1-2214-4e50-b723-7dc9683d6be4 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:901456e0-df4b-48f2-94ab-12573bcd9a8a phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0106d2a4-e8cc-4462-b5cf-60d14838770f phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:de963794-765f-48ac-a0c3-b647b7b0ee04 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6b01e3c6-c4d8-447c-8b7f-2a34435c88ff phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:46a6bb28-325f-438f-bb03-8e0c20aefdb1 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a331e3ae-7c42-4b2f-a960-9378733d062c phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d15a8d3e-330a-456c-9970-75e7383ca6fb phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:65100e0b-9c07-4634-ac15-5aea078cebb4 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6dbd2348-6cd1-428e-908c-26ea3d844c73 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0100710 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98c4518d-b652-4b30-aef8-978f2eebcb31 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010522 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7d6f1498-fc31-49b5-99a6-31e60c0ab5fb phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ca42e0c0-587a-4882-8e17-c6a1cde9a1c4 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:adc884f2-1ff8-4647-83ad-33f2e5f413e6 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0e8a10aa-6d3a-43ab-a749-6790c2878c65 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d3941f8d-2263-4ca9-ae7c-46404f23cd60 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:11e2f30d-41ad-47dd-a251-aed90b1d225e phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:95f998ce-bb1f-434a-875f-0654ed8de560 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0100035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9c53695d-42a5-49cb-bee3-245a3d4001c4 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0011613 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d377f0d7-6a47-4c73-b88a-4025d7c5f8e4 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1f149b46-76c6-4754-a2e6-75534cc584f8 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8e0fce13-db4a-446e-a12a-c36b171543d5 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e2382ebe-2d34-4613-88fd-a63d3ed852d9 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00937927-848d-41e9-9acf-78936c61ab1c phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0011590 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:19e8d310-6c33-4d85-887f-2994c7f4792f phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0005176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ecc35b87-a1ef-4f8a-8d62-9f859cd8024c phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010775 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1b2ea150-8493-432d-b1e2-8f09218471e3 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b786f90c-b546-4682-9c30-abee67725ee7 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7919cfc4-035e-419d-90e7-de8a01eebd33 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0012811 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:00cea936-0f15-407f-9d1a-7288f67b06de phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0012810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6fab7ee-f57c-4d02-b13b-7a292799860c phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:03fd1922-191b-4004-9e55-ce5a1fd2008a phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a6c98d55-f727-456c-9d46-cb3de2e9bdfe phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:becbb34e-187b-4cc5-b7f3-9e443b2ea629 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0003196 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cb84b81b-0c0b-41bb-95b4-d99ea3a2ff4f phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000446 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e66250db-9229-4280-99b4-ffa448e7a399 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:1eaad719-8e2c-4f0f-a6b4-ba6b51a68eb6 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cca428d4-a09d-4b5d-b47d-ffdcb9f5aac3 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8685e9ed-992e-4c2b-a41f-187978273043 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98b27738-3e9e-42f4-96ae-618c23a79507 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b89d483a-c24f-4812-abea-e1c1c5e29ed9 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0200096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4b5481b0-60af-4d6f-b172-3ff71cac68e0 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ab08a430-faa1-443e-b6f5-2b19c9a6d9eb phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0100337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:28f4af65-63e4-4cc6-a224-7adb23194105 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000193 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:47f7a984-09e0-4117-8e1d-9f6c0e5bff91 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a1aeaf11-c1f9-4791-8b90-80eda046bbc8 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010810 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:75ea1db9-5d07-4660-b927-00aa41796c9c phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000689 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:beddd447-e3c5-40d3-9c75-210465101d1f phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000670 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:81d3bc8c-bc5e-4d25-a886-d4e1a6b21ee1 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:699f119c-d7e6-408c-89bf-06a6ca63c602 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010807 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e1f05331-61b1-4d07-b286-bcdf9003a433 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:127878bd-2f59-468f-9070-b0f06d541392 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000668 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b242c541-7c5d-438d-816b-b4a127d31959 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cfbc2a3e-9a86-4878-a37c-3e377c3570af phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e93f83a2-20a7-4e53-a6c2-6bedf344f309 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:98138443-2c8c-4d92-9ab5-e32251ce24ae phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8f6e37c3-a46f-4f37-be87-8ad74b031172 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f16fa08b-b8ad-49ad-8d6a-b4aeb68b3d8d phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:4dd0afc3-9e63-4dee-8c97-43bb0d38b8a6 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f49b3231-ea07-4b9b-8632-4da7e816827a phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:df3703f2-545b-4abf-820c-f674ef5b7aa0 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:b8da0b7e-c2a8-4e6a-a12e-bc77f08bfecd phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009894 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bbbc5c63-ee73-465c-90fe-aff5888c5be5 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0004467 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:9cb22d37-d660-4617-a341-b56cb4759497 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000395 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bc6c14d8-0f18-41eb-9e7c-5b80446e24e8 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c53ae7e-fcbd-4003-b64e-746f5eaf1871 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0020206 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:ba95989f-4bb1-4fd6-997b-f7095e812354 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:69318184-09ab-4e90-a87e-c825777c9896 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0011304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf3c27cd-1534-4781-a70f-5fb036b06a8a phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010109 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:87b56639-5d52-44ef-bf25-5df65bf90351 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bb435f35-8e92-42fc-af2d-3addced41aaa phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0008080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:bcffab9d-a791-4922-9053-efcc08238a84 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6d210180-52c4-4096-bac4-c3c3a2416621 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:c0691851-8b17-41d2-97d9-5b5b91b38d46 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:282d4a6c-3563-446e-b338-9f71dc342d8e phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:73960b43-5911-4565-8a5e-ffa1f9b1589e phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:e3be20d6-ae54-490e-94f5-c899a1530c35 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:10420380-f187-46be-9114-e37a1f89c2ca phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0002974 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:626a11a3-5261-4b6d-8d87-07daaae6f162 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001166 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:3c33c7e0-91b4-4ac1-b883-2f4c048c5906 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:35aaafec-5ec7-4cf2-8320-e51a96ea81f7 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009826 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:cf4911b6-c332-428f-b358-3c2592924351 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:0a00f20d-e0f0-4659-9373-9285a0da6915 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:7c63bd37-6830-46d2-a2d9-bcaae00ec04b phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0011313 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:6025fb0a-170c-44b9-b904-b42824bcde43 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0009778 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:d6f4fa34-41cd-4c7f-b7f9-e9f5d2cc665d phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:957f4d10-16da-4e45-b374-322a38affdb4 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:62b576d7-aaa5-40a3-950f-91c2a1861f2e phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:f05c5fa4-ac58-4290-ac6c-90b4b628d814 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:db1225e9-3660-4162-a29f-bdcd8ebbdbe1 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001769 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:8900ab21-7bb3-4798-939b-fce11875df2d phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:dedd417c-3505-4a1d-b32b-663486dc1398 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0001816 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:a001d623-4b56-4498-9d95-7136107bfc80 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_phenotype HP:0010886 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37962958 uuid:392f6b18-ae3b-444c-95cb-4517c68af3ea phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_disease OMIM:620535 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:75e8f2a5-233d-445e-93c5-16e9d15fac51 phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:has_gene HGNC:23156 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37962958 uuid:63b29082-6452-42ac-a734-2608a7ce0eeb phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:962fce31-8432-430b-9226-55cf725664b0 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:78c9579b-df1e-4c55-8d50-5f8c33b1b9d0 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:681f1896-0a7b-4589-8955-fb7fe36a9df7 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:85e59281-8061-42f9-bb8a-db661ccc4a4a phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:a311ab23-bff0-4ecb-8192-c8e9e3c0196d phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000577 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6e7b0d3f-966a-4ab3-948e-69aad70549d9 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0012368 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:d3924abb-f090-43a7-833d-52466ccd9a11 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:bb7fc746-0aa0-4175-bb03-5800c6e4d3e6 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b70e66e9-258b-4dae-b514-00605d3fbde9 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:a65d489a-34c7-4e95-a209-f5f728d5fec5 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:22508ece-5fef-4bb5-ac07-a6895fef9492 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:41c362f7-040c-4048-a62c-0d60dddf8366 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:39efcd7b-b7ed-451b-a4ac-47057ab50c45 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f7462e46-0bed-4018-b970-35e098e52e1f phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1cfbc7db-0a5e-48a7-9acd-5b5c0217d2b8 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0034681 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6fc21321-6995-4363-9398-96358a5727e7 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0010055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1bdb0c9f-a134-4c89-a3ad-42be83a92657 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:9319865a-c1dd-4c3c-92f2-3d8f820d58ed phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:e96bea02-1450-4e77-8ff9-c95ca1f0231a phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:1d863935-3479-48fc-a45f-1af1c708bfbd phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:2bfd9092-c669-459a-8d43-102e0ef921b6 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:5dfbd437-b48f-4dc8-9ba0-65b5ea74fd63 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:35977029 uuid:caee52bd-fb24-4252-ae90-bcd524069859 phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:46d1f50f-62e9-46a8-9bfc-418b14691266 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:8131b431-723c-4269-8654-41d9016ae993 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:32a25ea6-f927-463a-b68b-cefeb36b9307 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1bf701eb-d7d8-4bdb-8451-9c16bfc208e2 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:aa167c44-819e-4381-bf32-45d2a43f0c00 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0012048 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:01035194-5d62-408c-8acf-4b5fa93531af phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:72b33eb3-49e3-45ed-a630-0dc694a8053a phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:c0a0e2c1-f11a-43c3-bf65-98d66cd15718 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:27248984-d552-4180-9730-2907d31708ce phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:b014f6ad-c3f5-4e41-a368-fd677c26ccfd phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:de2a01df-0ec8-44a8-a473-5a58c42cf5f6 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:fa389271-666f-48c5-a7d5-a5dd8434a254 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:bc8bdf6f-c538-42b2-9e30-90eef87ccb31 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:4d68abea-cfca-4c34-80a0-ca39f4d4edac phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:65205fbd-027c-4fc3-b53b-4fb1ce40d6e7 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:83e20d68-3e03-4936-9c9e-55846c6e0af9 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:188e3d2d-9bc5-42e2-961f-bd849f9a46b0 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:5f898831-2595-4aa2-8ce4-28b21a6c6b95 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:bdde6ae9-4394-423e-ac3a-3c4c9297557b phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:8114bb87-c9a5-4900-83d6-eb847bf7bf57 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P15Y8M infores:phenopacket-store PMID:35977029 uuid:79428d5e-e4f8-4e33-aa41-5aef21c17f30 phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:b2b47787-830b-4c0e-8987-5c9e3bb31328 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:93ab7ce6-af6e-4c75-83e4-1167de9a9163 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f6a2d8b6-bebc-429d-a590-530be7a6e8d7 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:11b3573a-84a4-4772-a853-5b53b4ead3cc phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:618b65e4-a293-43d3-9eb0-8b3287e4b0cc phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:804e4a06-5b97-4631-9803-63e2ecb6ff2c phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f9860ea6-414f-4a88-99f9-523a1d203ab1 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:a3c6877d-12cd-4667-8ba5-3b02f8f95415 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:494b2e9b-911d-43ba-85b8-f0824aedbe73 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:aa33b578-ffea-4b51-9086-b6ab1284c66c phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:4cc512eb-4428-4634-a625-c56b0f5efe11 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0010535 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:97be06e5-e65c-405f-bc1a-53ff864704b7 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0011330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:39885445-1d90-4c30-a97d-cbe4da0db377 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:0e5b1358-8b3e-4372-8092-8ac372fec700 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:8138245a-d894-480c-a698-d5b17b96fe04 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:4113b99f-c7cf-4f64-88ba-ce4241acad23 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0010780 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:0c6850e4-0146-4d3f-a528-d790848aa474 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1e6f6f1f-1f60-43e2-84ff-67f2368442ff phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6ec8ac36-1882-4aa5-af92-b681ac1086a7 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000232 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:469953d3-4824-4787-a3d7-4fcdc38cd722 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:10cbe779-a122-4336-bb0e-f95e2fdc799b phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:53aadef2-d407-4e28-ba05-55f0300ebc62 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6b1c2bba-1c79-40cc-a0f0-d85718f7f298 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0003393 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f3ad919e-3e36-4ac9-aede-d831c3a58641 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:921880fc-bbaa-4916-8476-623b2182ca31 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:bd797cf3-f07c-45bb-9cea-564572caa8f0 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:47674588-2d23-4a4c-8251-e15a295c8ef6 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:865b299a-5724-48ed-87ee-43e59bf7d535 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:47bc8098-b726-472f-a5cd-6e183e7e38b7 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:584bb1ea-18f3-4468-867c-e528608f747f phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P15Y9M infores:phenopacket-store PMID:35977029 uuid:c206f00d-646a-4cd7-b54c-7eed6f5a2d37 phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:165b1548-17da-48e2-b369-5b6dda7e88e2 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:465a2996-f944-47e0-9c13-f868a213ceac phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0003097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:9e312a3e-a5a4-4273-8679-ff9b3fb6378e phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e6d3920d-cfca-44cd-bfff-9ab55eb74874 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e3558f42-9e1c-467f-a08a-8b35848ac70d phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e6098ad6-d6c2-4d41-b1dc-99948fc541d0 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f2e9f75c-1e79-4040-8e10-fd8aaf135eb9 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:20ea9ba7-ebde-4479-8637-4b30de6c66d2 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:37343345-1218-4342-adbc-83b81af4915c phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:13f896a8-ef87-4e66-ac09-7b61ac313694 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:64e4cec9-0458-4700-a20a-7ef05469003b phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:c82e5b43-0355-482a-a73a-2419b35fbaf6 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1e23250e-f82a-4972-9599-7e99625d4332 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f93d47c1-d7c0-4b0e-90fb-d468c4bae8a9 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:3918846a-f51e-4c28-a33e-32fa70aaf30a phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:19b5c2ed-4f77-418e-8afd-5caaa89bb7d9 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:35e5ba64-b806-4212-bda4-44c3ba9525aa phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:e71d9117-4592-457d-a33f-3a62247567fd phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:3686e9b8-1885-4490-8d2d-66a200dd90f3 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:6ed72206-a033-4db2-929d-53d2afc41d83 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:87a6fc98-1003-442e-8d14-a58157643a9d phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:35c1055d-0e4f-4290-8365-768151373e13 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:a21906e7-0d52-4e64-a938-52a3938178bd phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:9c7eff3c-5c25-4b7c-a488-f01a091bedd0 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:dae7c8b3-f6bd-4a6f-b10c-75289ac799bc phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:95d940fb-72cd-48b5-b224-b08b938b6592 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P2Y3M infores:phenopacket-store PMID:35977029 uuid:ed4ed095-0435-4a72-a620-ae9d96b4a160 phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:ea06eb8d-0254-40d4-bf3b-06747130c5eb phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:c039b6dd-468b-49dd-bb0e-9f73a605c243 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:13f309c4-82fe-4cf2-be4b-9cda48707a74 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:fff093a6-cc5e-4085-ac45-56cc78ef276a phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001387 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:94918e5e-32c8-4306-843f-2c1df721ecd3 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0010529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:210ade83-ddc2-449b-b00b-4931ab39acbb phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:d0d84dc2-4594-42ed-b150-0126366275be phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1082bbae-aba2-493f-8ce4-1cd3dbdea861 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0009656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6f6824fc-8118-428e-acda-6d016aae79b9 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:0cb652f5-b802-4701-802a-530e3a4503cc phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:d0cfc4ef-5acb-411f-b442-50110da07abd phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b87a3bfd-d808-4ac2-9a85-9df21547e96e phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001156 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:bd74c785-9cfd-4121-a94e-c8c53bc76786 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:d45cfaac-f65a-4f45-9aa7-baf7e453308d phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:60572e2d-a5e9-445d-9495-1be76effa722 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:d91661f6-6f5c-4c63-9a64-8c839d90355d phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:9feddb08-5f06-4f5b-863a-2ee47878758b phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:2ad19a2c-90f3-49e6-a8be-fc9bb7710e26 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:ae1db625-991d-4d7b-8218-0c052fd01a6b phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:eec95b7e-7647-459c-b63a-d286fa6fb627 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:1d67e6b1-8e5e-4e53-85b6-ce6ce7d2e91a phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:f9e3fd22-c607-4507-adfe-0f3acab43992 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:8b107e8f-6e2d-4363-90cb-0f83d4d15d9b phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:f9264dd5-5f83-4b29-b0b8-83e56c91ac44 phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:6b75c16d-b65e-4ddb-9562-f88549b30b6d phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35977029 uuid:b0d1ce0b-b8c6-4a20-80ed-e48e92dee2ab phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:6ea8ca3f-8921-4a94-bd2f-d67311779a53 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:cab0a515-adf3-4a63-9b11-0217ac2e3302 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:53efefc4-7bfa-46ac-a6b2-637f15894c44 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0025268 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6629ea0c-8df9-4b80-a015-8498100935e3 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:a48dd436-e6ca-46ae-b3a7-47b5c0ec5fe6 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0002329 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:6ed9f5e9-5f29-4f48-a122-067abb2f02e6 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:8423e439-1d71-4e57-addd-4e3a5b6009c7 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0004469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:a81d8a7f-15ae-4b4b-b597-ea93a82f86cf phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:26aa71e4-22c8-49a3-b69a-3c460966f4f7 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:80bcb896-4b26-4fe8-8955-da9384bea9a9 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:ec07653b-a984-4915-9817-485feb6ba83a phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:57f8ce3e-0f26-4fbe-875a-a4d14d2f67ab phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:08c8c6c9-15d9-4977-b3fb-5dd0d815b57d phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:4934625f-a97c-4f6d-bb42-123f6aef6347 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:06d98e30-2386-4f6d-bc30-25508842d027 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:963fce8e-7de8-42e0-8663-c858f3e29a5e phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:51548241-bebd-4ee6-94c1-5639fdfe9061 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:782db193-5d39-482f-901e-4e94d46489b5 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P15Y4M infores:phenopacket-store PMID:35977029 uuid:788d8112-4d7f-4b94-9069-a242fc1fbc14 phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:dd474d10-0cfe-4e1e-9f6c-5c87085fd7b7 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:bac7fce1-9b20-4aca-b4d0-412047946e4e phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:4a0db9da-0b08-42a0-a113-c02579857b46 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:679fedf9-b0aa-4889-b4a9-b93719b086a1 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b114bc9f-e85b-4daa-9657-5975d602878e phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:bd8040db-cc3c-4f17-be0a-c5b497215add phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b51a9800-b6cd-4939-9220-606c78f963f6 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:d6dfec10-902f-4830-b7a4-dc486b2ccbdc phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:9872f8e3-8499-4226-9dea-b7cbdbfcb2dc phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:fa295868-81b8-470a-bcbd-40acd4ae9fb3 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:ec82a9d3-38a5-48cc-a957-c2344535863a phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0002236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:ba9ece58-42c8-4d88-b4f8-c79eb2961453 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:f2a663b0-4629-4dcc-bd76-657f48a2d813 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:a83b5c57-f5a6-43ca-bb06-5cf40cd90544 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:620ce6eb-44b9-45e8-8c86-63d5a28632ec phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:39a23a5b-46f2-4095-a60f-68c5e19341d3 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:9b8ed90c-47db-44fc-97a4-25534b308513 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:42b8cf6b-6aca-4328-b902-1d313a9d015e phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:0f576103-ba37-495e-a5af-2933ea6543be phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:e1cc7333-756f-4276-b73d-7255bc2e7107 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:1e3a973f-7583-45d6-a5a5-bf16cc7c57fc phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:755f921c-c8b6-46f4-830e-c2be073e9297 phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:35977029 uuid:a342ae85-a6f5-4cdf-9d1c-22eebce2189b phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:2b733d3f-2f19-4f20-851f-28090a60d738 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:4af4b385-2fed-4f4c-a558-9cd392a1d35d phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:513be463-4879-4b45-9f2b-bf948d21891f phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:9c0cf071-2fd2-4f93-a0fc-08df1572090f phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:3042bb52-29cf-40d1-8d33-2db6035a2342 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:c14103fe-edcd-4af5-a7c9-000f1a1ab6c6 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:01936c80-9334-4531-a52f-305426993e7d phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:61181eea-c026-4067-b98a-77443b1a1fb4 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b75e454d-8974-4e62-9f7b-44c4858b59ec phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:542320b3-d097-41b5-994f-0e5102721989 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:65ed73d7-8607-4f2a-8225-4b6438fe07dd phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1174cf57-6910-4a72-aaa7-1bf9146d21f3 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:3da532ad-d3ea-4005-92d1-a7ace3f16c9a phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:ea501ee0-c45a-4312-a505-2fc4a369b905 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e201fc0a-f529-4a98-9775-00fa4fe07517 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0009901 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:463b4df5-35d3-461a-b6de-3b672dfe48e3 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:f3ba3487-1c39-4eea-b629-9ff11891540e phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:e6196419-2b79-47e7-b88e-ba1c91a1a149 phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:35977029 uuid:6d388a09-8094-4e1d-8608-3fdddeacb1dc phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:4a5ec9de-4f72-49ca-8f4d-5c1877cb065e phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0001511 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:5769a56b-8d00-4323-a27a-821d2ec701bd phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0025700 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:78881cbd-bed1-4368-b9af-d4bbefb8765e phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f10bb497-a2bc-4e6b-82fb-ff75d0bc8616 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e6424d97-7ec6-4e3e-9bbe-170bf02df6ff phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:679a181a-42a1-4e2a-85db-a4426ff4f4b5 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:34565c9a-e451-40c7-9e23-2547c3adcebd phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:7b375e48-9c1a-4b68-bb6c-50db8c371f9d phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:8e58c46f-8b17-4624-8d69-4a744f40ac1d phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:0aeb7f88-c076-40cd-bc53-a9e77f322a8c phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:ed32268c-51d7-4428-8df7-6ebbbeab6d8b phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:30410261-30ee-4fdc-b7c1-6b33e78c2c30 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:0706b776-9dd3-4847-86c0-394b0a3dba74 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:0dadfb16-935d-45fc-ac1b-bbc195d47a66 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:d22a2b19-a475-4fe8-9452-a5e4373b0a1d phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:75533b4f-7636-4210-ad26-665ceb009784 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0010747 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:abe35799-2d17-42df-a78e-729447bac289 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:2f896958-5e7c-465e-9150-e728e9f2fce8 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:4b7d8815-63c9-4b03-bea7-ef9daac47270 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000437 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:cef68856-a5aa-4f9f-b167-f32a70d88016 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e37d2bf9-3205-445a-992f-7649b4b4090b phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:dc370b72-39bc-4378-9f66-caa7352a180e phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_phenotype HP:0000965 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:1a3741bc-11a8-4ceb-ad82-3822659c3ec0 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:35977029 uuid:0bf090fd-9880-49d6-96b6-98512101b244 phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:9716473a-b287-4d7c-93da-d1798df36c85 phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:24ece537-26d4-41f5-a985-4a4ef3cdde90 phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:85ad8a6c-6a06-4933-b60a-4f92272f982c phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:390ebe0b-bcc6-49c7-88ab-dd9d4da90eae phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:624e8475-1117-4841-a97c-9f165d50482d phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:d20d32be-2719-49be-9817-0a9d5f2a4e69 phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:b643aba0-3755-498f-95ba-f23518b8165f phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:1e40e771-e1a8-4a53-b3b3-112800f3c289 phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:941268e2-956d-4f18-8ecf-a1d2e2c5b80e phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:11f63947-d9a2-447d-a80c-0767494bf805 phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:35977029 uuid:4a3b1c4c-7537-4bfd-811d-69848bc35d32 phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:e8f149ca-3707-42e5-9e57-514048079340 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b9283372-ee37-4751-b83e-9f086c0e15da phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b287ec0d-53c9-4d69-836f-0df942370289 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:e8b7fe7d-0c8b-47d0-bf76-9c891eb2eb00 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000010 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:407b3626-1bbc-41f5-8fd0-45db6803acb6 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0002099 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:9169da14-833e-4e9a-8c9f-fd4be558b71e phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:5b3dfdea-8660-401b-ba7c-c2707740960b phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:498cfa68-9a83-4ea1-a2e2-0a6605102b59 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:45023f74-8b61-48c1-8de3-68e5947596d6 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:3a953edc-a0dc-4634-8e02-e2063b4852be phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:522f6aa0-094a-44d7-ac93-cabc37d50635 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:d4adb3e2-7271-4be3-b219-b765c708107f phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:e45c2914-a04d-4c9c-a295-6525c0cc5aba phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:adb33e68-a100-46a0-9a73-de62598b12a1 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0100716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:cfb5c51e-bd0f-4dd1-a2e5-3331a19f9661 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:a188cb0c-3891-469e-bcfd-6d5f0aeceeed phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:a3b13525-a623-4909-b782-0f1c6b8eaddb phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:bc58f028-4367-4fdb-813e-acfd63c241f5 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:35977029 uuid:74962cda-b3da-4460-ba9d-14d7086a82d3 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P3Y6M infores:phenopacket-store PMID:35977029 uuid:059365d3-1a21-4515-99fd-a1c8bfa98843 phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:77022325-bc8b-46a4-b494-cada2414ea8a phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:4459412f-955b-479f-890e-dab9a9b46915 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:82c43751-0952-47d2-a3b3-3b005296e4d8 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:88c91868-9910-44fc-9887-69be7d1ca8b0 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:38f42e4c-5c01-4882-867b-b5c77a210db8 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b4549c25-222d-4c44-a50c-24746c6025b9 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0012427 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:b2851f08-1dde-4277-b8a6-72ae36175097 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:35977029 uuid:f8232e17-4a8b-4762-a058-f3d87160dd43 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_disease OMIM:620494 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:35977029 uuid:0ad049da-2744-4438-8ef1-ea78e5373c46 phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:has_gene HGNC:29877 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:35977029 uuid:6b21803d-21a1-43f1-b60a-fe8c2ff3cd44 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:14531790 uuid:ded4fbfc-4bc1-48eb-be69-13df23e7eb78 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_10 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:dc625a6f-9069-4f9d-8d98-497b2505d0ae phenopacket.store:UMOD.PMID_14531790_F762_individual_III_10 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:aea3a784-6098-4921-9c08-3b8b37d2a747 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_10 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:14531790 uuid:d5139107-4c6f-4bb9-b602-c567868953ee phenopacket.store:UMOD.PMID_14531790_F762_individual_III_10 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:4445c546-ee31-4418-b5a4-a43dbcf85294 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:32274456 uuid:8bdc42b0-fbfd-4c02-81c4-8782d18416aa phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_11 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:9bc100df-433f-434b-b9a2-29df4bf05585 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_11 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:8c27b430-c4f9-4f6c-905a-c032511745c5 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:32274456 uuid:900357b9-a40a-4ebd-b44c-9140cde5fb39 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:73ed3980-7e76-4b48-b431-56ebb20940af phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:33574344 uuid:5182794f-bb10-45b3-ab96-0b9f41cb8a60 phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:e13f99ea-9b3b-4818-abe3-880ae4d564c0 phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:05c93f9e-7b8c-43ab-9cbc-cb38e1a22f8b phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:47b2a3df-e07e-4ec5-8133-ce2e49dee123 phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:85db98c2-3f01-4529-91b7-760718df8af9 phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:33574344 uuid:40395e3a-95be-47fb-8d60-16688b03959f phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:f24ae3c1-b103-42a5-9d2b-5c0737f37502 phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_112 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P46Y infores:phenopacket-store PMID:32274456 uuid:b57c31a7-7273-498e-87be-1023337577e4 phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_112 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:893fdf1e-6c6f-419f-8c0b-7ad3bc63587f phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_112 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:6209a292-83d5-4b94-af18-09660c595c24 phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_112 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:32274456 uuid:35a349d6-9068-4959-8115-2a8f76f33b4c phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_112 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:1f1ed536-54e7-49c8-8bec-79820874aaa0 phenopacket.store:UMOD.PMID_22034507_AII_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:d7434c31-3678-430e-9120-582b19a170a8 phenopacket.store:UMOD.PMID_22034507_AII_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:22034507 uuid:f2313233-363c-410e-b2a7-d3c75ccd823e phenopacket.store:UMOD.PMID_22034507_AII_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:738c77fd-40c5-429e-b435-ea79451be93f phenopacket.store:UMOD.PMID_22034507_BI_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:05764060-d4dd-4ed7-b1dd-765d10c149fa phenopacket.store:UMOD.PMID_22034507_BI_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P49Y infores:phenopacket-store PMID:22034507 uuid:ce36166d-6d41-4539-a817-d2efadcd58be phenopacket.store:UMOD.PMID_22034507_BI_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:666ee5e1-e863-4434-834f-de0326fc78c1 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:15983957 uuid:57ea4940-c8ec-4331-b4c5-69e6db4bf15b phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15983957 uuid:343129c7-76d6-46f5-8d47-41335a308037 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:fbeffcb8-40a9-48fc-b5d4-ffae59df8287 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:5c5d31c1-9aa5-4f90-a7c1-7f2fdb268d79 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:9ff4d7ac-f072-45f5-8bf5-87babf03d8f7 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:b5f74c84-1c03-44f7-b7ac-a9fff59fee7b phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:9dfd6796-e526-4c9d-87ef-a3d9b8545d5b phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:33d51c1f-ea2d-4de3-9687-0aac114a354f phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:33574344 uuid:f9a569be-d8a2-4604-8f2b-1d6b034aa090 phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:449efffa-6b18-41f5-9b39-59552304f50b phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:8bd33edd-d9ff-4a35-87e1-ff426fa7d758 phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:61ff6fa3-9f2d-4da4-b89e-6afd4df08f49 phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:bb70483a-bee4-47bd-89fb-09e801f6cd90 phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:33574344 uuid:903f57b9-1c10-4801-b8a8-900433b1edd5 phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:c0076c54-5f20-4e26-8814-cba6c06d35e3 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:2a4293b2-5ddb-4ac2-99fd-6c896f2ffc25 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:6639f5f6-6395-4b84-a200-5881357de35a phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:e19e7e8f-e445-48a5-84d7-e8ffed1d7d8a phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:6693f29a-6107-4fa5-a94d-7620d1c583c9 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:4880fbb1-3720-4ff2-9613-9779709ed909 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:f889d1ab-cb23-4e57-a1e3-1fc2d4373859 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:500bb3cb-ea1e-4ebd-a97a-8b36482392c0 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:14531790 uuid:664001e5-3093-44e8-b81c-889dff34d23c phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:decb3431-e55f-4ac2-bfd2-53c44cf800e3 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:292f46ba-15a4-44b5-be7e-e6d28e43b6fd phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:14531790 uuid:e4a7e2ce-74f5-4249-85f7-d554c97b7535 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:4e4fb620-6c26-4b9b-83fe-0d930faa4559 phenopacket.store:UMOD.PMID_18950917_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:18950917 uuid:bc4b6f50-16f8-4cce-b0da-019a31a0857b phenopacket.store:UMOD.PMID_18950917_father biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18950917 uuid:31ad48fb-f2f4-4828-a43a-05e2b78cd5b7 phenopacket.store:UMOD.PMID_18950917_father biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:18950917 uuid:9ee27b89-1637-4bef-a483-b67451e9a572 phenopacket.store:UMOD.PMID_18950917_father biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18950917 uuid:9ed287ee-8679-4d4f-a864-dd15a984c1e0 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:15575003 uuid:7328e31f-cfcd-45d3-b786-01de3841e7a6 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:15575003 uuid:a17369f8-9939-43a0-9649-2a2c922703cd phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:15575003 uuid:43c1b6c3-25e2-45e9-985a-e60938075ce6 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:15575003 uuid:a79f67ee-c63e-4d04-8cfa-f994664c750a phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:15575003 uuid:1495ea1c-5baf-4798-b26d-79cdb8428db2 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15575003 uuid:54f7ceff-23b9-4bbe-84e6-142c312c5b7f phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15575003 uuid:af43a65f-e6bc-4d70-b09a-ac366bf26156 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15575003 uuid:c55a7014-c3a5-46d5-946b-20a2fda47332 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15575003 uuid:9413f931-f285-4820-8c6c-8a8d636db3f4 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:15575003 uuid:472eb6c3-7370-43b5-90fa-07625d2379e6 phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15575003 uuid:7813336b-0ce5-45c7-b94e-09103d41ee1e phenopacket.store:UMOD.PMID_14569098_F1_individual_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:14569098 uuid:17bcdb8f-c8d3-431b-8192-5421697c8a7c phenopacket.store:UMOD.PMID_14569098_F1_individual_6 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:446f223a-d2ba-43e8-a654-bf2d5ef6d0b3 phenopacket.store:UMOD.PMID_14569098_F1_individual_6 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:afbdde09-bf5a-49bc-839c-17fd2a8a6fe3 phenopacket.store:UMOD.PMID_14569098_F1_individual_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:fdd93815-5575-450c-ac1a-059457284008 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:25786455 uuid:1444d9fd-9364-4a2b-81ee-3310149eacd7 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:25786455 uuid:da3bf21d-1653-418a-9628-d10d1102ff6f phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:25786455 uuid:6a6dead0-0660-4202-9bc2-4df441a026c2 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:25786455 uuid:5eafa718-e5b9-4bc5-bbd8-2057ecefdd87 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:25786455 uuid:5ff2295a-0939-44b3-b142-dba9843d43d7 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:25786455 uuid:0b4b9297-ccdf-4c28-a4b9-8b9fba0b0745 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25786455 uuid:21bed9b5-8c72-458d-bb39-fe492ce13525 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25786455 uuid:a0e46746-29bb-42f5-bd82-e8f7c6f0be33 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25786455 uuid:11f2c7a0-1411-4f34-a6b2-3da29a3011ce phenopacket.store:UMOD.PMID_25786455_patient biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25786455 uuid:2a7e6f40-f563-43cb-8284-c16ecb6f17ee phenopacket.store:UMOD.PMID_25786455_patient biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P31Y infores:phenopacket-store PMID:25786455 uuid:c1d7a0dc-9616-4807-83ac-e47d87293916 phenopacket.store:UMOD.PMID_25786455_patient biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25786455 uuid:8180d4ab-15c7-4757-9ef6-66d39fe5b169 phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:1b49e1ec-2aa3-4a52-9070-fc68af361035 phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:141b35ac-0e67-438c-99ea-9502cbefff13 phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:3d0d6f74-1590-4791-b69d-9b8e66e26c2b phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:9b1ffde6-ecce-4a94-b110-8ad2271a4395 phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:b21067e8-f2a4-4ff8-9006-be6e99f29b55 phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:11776238-a141-4e89-95db-c9714243f39e phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:f9ceaae5-f790-4f5c-953c-24e8713ea865 phenopacket.store:UMOD.PMID_29513881_V_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:b27d803b-6b02-4d59-a737-bc87becd5c48 phenopacket.store:UMOD.PMID_14569098_F2_individual_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:14569098 uuid:0f454206-6805-4a83-b972-425021c03157 phenopacket.store:UMOD.PMID_14569098_F2_individual_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:a658d1cf-5933-4446-b67c-ab5ad9db2fd1 phenopacket.store:UMOD.PMID_14569098_F2_individual_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:f6094dba-f67c-4d73-823e-c0639868c090 phenopacket.store:UMOD.PMID_14569098_F2_individual_2 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:44330f7e-2f7f-453c-b805-07369e053c96 phenopacket.store:UMOD.PMID_14569098_F2_individual_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:1f6a2833-28df-4b1c-a7fb-4088abd99253 phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27729211 uuid:e33a95d0-1067-46bb-bb46-7be7cffb59a6 phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27729211 uuid:f421330b-c1bf-4f0a-9cea-f9db9ba83ffe phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:bff8a7a0-885a-449f-97b8-f606b5ff75a5 phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:eac09005-a0a3-4b59-9799-97356ed11d83 phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:4303322d-8e61-4679-890e-f6039f6f143c phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:a5b84270-812c-47d1-9167-c2517b518afd phenopacket.store:UMOD.PMID_27729211_III_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:03421af2-0c02-4851-b80d-3bf21cf14c74 phenopacket.store:UMOD.PMID_14569098_F9_individual_5 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:14569098 uuid:55bede8c-4a5b-4661-ac09-b5d3c483a39e phenopacket.store:UMOD.PMID_14569098_F9_individual_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:094e2491-042b-4b9a-a634-019e0dec6048 phenopacket.store:UMOD.PMID_14569098_F9_individual_5 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:f6031a70-3ad4-4551-9c91-e8f3be6b627c phenopacket.store:UMOD.PMID_14569098_F9_individual_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:4c085d77-1c45-406a-bf25-a00a4a4972d5 phenopacket.store:UMOD.PMID_14569098_F9_individual_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:3f6bac3b-be8a-46e7-991b-08ab1ba54d2a phenopacket.store:UMOD.PMID_23826568_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:23826568 uuid:76eabfb4-5d7e-4fb5-b69c-056dbe92fff2 phenopacket.store:UMOD.PMID_23826568_father biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23826568 uuid:2d1d949a-3496-4b7f-a577-6d4c4fecab23 phenopacket.store:UMOD.PMID_23826568_father biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23826568 uuid:dec081fd-4541-424b-a451-1fec5d813439 phenopacket.store:UMOD.PMID_14569098_F9_individual_7 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:14569098 uuid:487f0fa8-5682-48e9-9bbb-cefab8fa6489 phenopacket.store:UMOD.PMID_14569098_F9_individual_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:967e3669-5340-4d09-9f54-1023e0c988b5 phenopacket.store:UMOD.PMID_14569098_F9_individual_7 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:eb54cc4e-7684-47da-8157-335b4f579ccf phenopacket.store:UMOD.PMID_14569098_F9_individual_7 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5d62e66a-7b17-48bb-ba83-e55e6dd7c167 phenopacket.store:UMOD.PMID_14569098_F9_individual_7 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:a7b1b8e9-2aeb-4da3-ba84-2a32b69e6c14 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:32847529 uuid:ad8be43d-6b9a-4881-b677-4127f3126bf2 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32847529 uuid:5272e265-4980-4851-8795-1075e14b1e98 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32847529 uuid:b90affd4-c435-4626-b0e8-911f0e9ce625 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32847529 uuid:b56b0962-a5fc-489e-a326-e75c9c68e4d2 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32847529 uuid:c3ac8172-1ed9-41cc-a869-6f8cbca26105 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32847529 uuid:19a5efc6-c403-467a-9968-9ab30dafa401 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:32847529 uuid:384ef134-aacb-4fd5-8804-06f75f2689ed phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32847529 uuid:82ded7dc-b819-4ecf-9020-585b15060551 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32847529 uuid:31d6cda3-2acc-4fd8-be3b-37b420a562b6 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:32847529 uuid:643e5363-028a-4634-bd64-99ae52091765 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32847529 uuid:86fa1dc4-1904-4a0e-a09e-7c3f72762c1c phenopacket.store:UMOD.PMID_14569098_F11_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:14569098 uuid:62f329c8-053d-4aab-9e94-e9b47ded450d phenopacket.store:UMOD.PMID_14569098_F11_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:14569098 uuid:10d8fab7-ba37-4723-a86e-6eb0994e78eb phenopacket.store:UMOD.PMID_14569098_F11_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:3df375ec-517f-42f2-acd1-600178321779 phenopacket.store:UMOD.PMID_14569098_F11_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:1a9ce158-7ef6-42d8-ad91-64fe8a0893a0 phenopacket.store:UMOD.PMID_14569098_F11_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:138974e1-19eb-4fd8-bd4d-6ad04d3cbda5 phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:cc48768e-8db0-4566-918d-30a1836ff282 phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:6254e978-ca1d-43e3-86d1-d330c34ca150 phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:af6f313a-8935-4363-bf91-f93fcbc7b42d phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:2a7c1e24-9c74-4c64-ab5e-7f458383cb76 phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:e727fcd2-8954-46e7-9329-c1fd2981e642 phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:dd8c5e7d-caa7-459a-ae9a-c7e733b9269c phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20151160 uuid:71923f92-36ca-435d-bbdc-5a2ec1c4d7b9 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20151160 uuid:1aa9c2a8-0f31-484d-9575-68f3249f7c82 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20151160 uuid:a6dadce0-7235-41c9-8e7f-0ffeed0102e7 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:20151160 uuid:301670d7-b71e-4857-bbfc-4698da456ce5 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:20151160 uuid:c03139b7-686f-4543-abe7-42bfecf9dfb4 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:f9e237fd-901e-434d-a1a0-6b919150313e phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:4e993f0c-ee5e-4455-a0c6-1d6d7e117730 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:4901b7a7-3c7f-4276-8c3b-113de8bc05c7 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:19915495-0963-465b-921b-7d844439d08a phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:77c836ad-cfac-4048-91f2-0882da8a984d phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:d3284d55-44a7-4727-bf26-868197e2df6e phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P6Y infores:phenopacket-store PMID:20151160 uuid:49f9b156-a3d7-4792-9bce-5cc35fa4cd88 phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20151160 uuid:e2f57bb1-dc23-4b37-a29d-07bb37860194 phenopacket.store:UMOD.PMID_22034507_DIII_5 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:011bba66-46e5-4dee-8f53-71814c2b9d7b phenopacket.store:UMOD.PMID_22034507_DIII_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:6c00f1a3-a4c3-4b4d-bedc-c7e91e5bbe84 phenopacket.store:UMOD.PMID_22034507_DIII_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:19d9a6c3-3cf5-40ef-a377-19d5153b6949 phenopacket.store:UMOD.PMID_22034507_DIII_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:c14eb854-6287-4af0-a863-6506f42f989e phenopacket.store:UMOD.PMID_22034507_DIII_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:dbf62075-60db-4b15-a735-d95d632b14a0 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_115 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:32274456 uuid:cb5e1cd8-7787-4b01-a09e-14f7b4e42c40 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_115 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:41504696-9735-4b6b-8c67-a80376dce4f1 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_115 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:17ce1e7e-43e3-4506-bab2-168f4aea0ed2 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_115 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P32Y infores:phenopacket-store PMID:32274456 uuid:8da0aeda-fa26-431b-8908-09780bbf4657 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_115 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:550483e0-65ef-45e9-a662-169a16c70cfa phenopacket.store:UMOD.PMID_22034507_CIV_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:6c8c134c-74dc-4587-9f81-ca6fbb42a2e9 phenopacket.store:UMOD.PMID_22034507_CIV_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P30Y infores:phenopacket-store PMID:22034507 uuid:84f527e2-5377-4fbd-9a39-87386370b367 phenopacket.store:UMOD.PMID_22034507_CIV_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:0b022db2-2769-456a-8491-7d401c2be3d6 phenopacket.store:UMOD.PMID_22034507_DII_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:c9f9c159-a9e8-4895-9392-905570f843e9 phenopacket.store:UMOD.PMID_22034507_DII_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:faf7d690-c08a-4b70-811d-8ab19d39c2c0 phenopacket.store:UMOD.PMID_22034507_DII_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:3a5e4f20-0e73-492a-9b1c-c4d0876643bd phenopacket.store:UMOD.PMID_14569098_F3_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:14569098 uuid:4e75554a-1654-4f3f-b1d0-7f8f44f8cb19 phenopacket.store:UMOD.PMID_14569098_F3_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:14569098 uuid:b4ede768-8f34-40cc-a656-ecc0d47a6165 phenopacket.store:UMOD.PMID_14569098_F3_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:2f9474c9-3ee2-469e-b8f4-a2244f274ccc phenopacket.store:UMOD.PMID_14569098_F3_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:11a311c2-0310-499f-99f1-0fcd39ed3a55 phenopacket.store:UMOD.PMID_22034507_CII_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:e900f19a-5126-4127-b050-714cd9ddc0c2 phenopacket.store:UMOD.PMID_22034507_CII_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:782e9285-1bf9-4e93-86c6-6fa4fb712cc4 phenopacket.store:UMOD.PMID_22034507_CII_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:4404d161-3cf4-487c-8e8a-224f760a95d7 phenopacket.store:UMOD.PMID_22034507_CII_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:02a8dbba-bf1a-47b7-9d0f-4895c0f6b6a9 phenopacket.store:UMOD.PMID_22034507_CII_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:3eb29edd-60ea-4710-8bd1-c45d141c222a phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:33574344 uuid:7a23d815-ccf5-43e0-a10c-6e17cb0d545b phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:0ea2f407-04ee-4b89-98ff-137072c3aa08 phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:33b4a847-cc46-4d7f-8c84-039867ce8fc7 phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:860427fe-c927-478f-be68-735e7a0457ec phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:e3dea258-a926-445d-9b5f-da6b914deef1 phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:33574344 uuid:4b53ae69-6c2d-469c-b070-45f382bf3817 phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:248a622b-09de-4377-bba1-b7f0bd111c32 phenopacket.store:UMOD.PMID_22034507_AII_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:22034507 uuid:3648a90d-20bf-4b81-94b5-a99ff1e9a514 phenopacket.store:UMOD.PMID_22034507_AII_5 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:dd4af81f-19df-4f72-beea-06004ebba9c7 phenopacket.store:UMOD.PMID_22034507_AII_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:f616cd87-4d42-4054-94b4-6622ab93410c phenopacket.store:UMOD.PMID_22034507_AII_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P61Y infores:phenopacket-store PMID:22034507 uuid:06b2dfb8-24ac-4e3e-94ab-57b54005cf6f phenopacket.store:UMOD.PMID_22034507_AII_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:638c98e4-d396-40b7-936f-eef75052ffca phenopacket.store:UMOD.PMID_14569098_F9_individual_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:14569098 uuid:449bfe41-1b23-4ef3-91fa-ebab09b70178 phenopacket.store:UMOD.PMID_14569098_F9_individual_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:d99413dc-313a-4533-8acb-909f61969d60 phenopacket.store:UMOD.PMID_14569098_F9_individual_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:b7955b85-078c-486f-8b19-b72160db2dc9 phenopacket.store:UMOD.PMID_14569098_F9_individual_2 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:6f7c8686-2b09-4f82-87b9-54f787e67bd3 phenopacket.store:UMOD.PMID_14569098_F9_individual_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5f18f054-f13b-4316-9fab-a9fb6ef5cef2 phenopacket.store:UMOD.PMID_27729211_III_5 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27729211 uuid:e1a8943b-9b1a-4add-9673-7e73f98d49be phenopacket.store:UMOD.PMID_27729211_III_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:86ac9e68-3290-46e7-8115-cb96143efc87 phenopacket.store:UMOD.PMID_27729211_III_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:ee766231-a16d-4412-889a-ae3d5bc16a04 phenopacket.store:UMOD.PMID_27729211_III_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:1ae7a91d-4bac-48ea-9ffa-fbcbb0ed9060 phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:14569098 uuid:3ee9a9f8-5e18-409e-88c4-9f80082a6085 phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:14569098 uuid:a763a63c-7671-4108-a128-6de010bc75ff phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:8001404c-ef3f-4ffa-bafb-6278bb3cd8c2 phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:cf4999b2-3b68-48f0-a5c2-724d03f907fe phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5381bef5-dbbe-46c3-a447-9f10edcd21d7 phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5b44c5bc-2e9c-4628-9889-e3df18c953cc phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:17245395 uuid:f3294456-d8fb-4dd6-9989-43d8518a2d12 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:b138921e-17f3-42a2-8df4-b5f4e594ab07 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:4a2b1ed3-3cff-45e5-9822-76bc78ab7c1b phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:b63267bb-815b-4847-8477-dc8496133358 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:8a66c928-fac8-4f8d-aecf-d252873733aa phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:8ea388ed-ce83-4625-887d-9973952cb26d phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:4ada6028-9969-4e0b-b285-1e547d6f2096 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:3b8c5264-e3eb-4ec1-9f3e-c361e2f303b2 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:a04834ba-d090-4375-9371-b4599c399247 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:fbf21300-c286-4c39-b8bf-d7fb0cb6af44 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:81547359-c107-44b3-ae3f-5516fd7114ab phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:0e4dc46b-ea59-44b5-8523-7ad64a2e84ba phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:a48840a2-d4f5-4e9f-bd05-6662797e92e0 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:8ae287a6-d5c1-4d99-b411-8c4b53e1d39b phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:1fd522db-603a-462f-9492-b837d28d5899 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:6f17d734-9874-4138-910d-16ec7ca493d9 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:17245395 uuid:7c2a01b1-b3e1-4169-94cf-29485a7ab9be phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:8280d411-3c05-4963-a32f-ac95d3dd361e phenopacket.store:UMOD.PMID_14569098_F2_individual_3 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:14569098 uuid:dd35228e-e156-47bb-9372-f1058859095d phenopacket.store:UMOD.PMID_14569098_F2_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:e542a4bb-165d-4608-9918-178201145502 phenopacket.store:UMOD.PMID_14569098_F2_individual_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:31c84071-a8e0-41da-86c7-d3ccc2d07188 phenopacket.store:UMOD.PMID_14569098_F2_individual_3 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:81e1c73c-dc7d-43cf-8012-aa89d8ea4348 phenopacket.store:UMOD.PMID_14569098_F2_individual_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:f6629a61-27b8-4677-86f8-49a24057ebef phenopacket.store:UMOD.PMID_14569098_F3_individual_3 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:14569098 uuid:000f4ba4-22c3-4d5a-8511-14a544a28749 phenopacket.store:UMOD.PMID_14569098_F3_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:e3f8b0df-5593-4f6b-a074-e95718da7b7b phenopacket.store:UMOD.PMID_14569098_F3_individual_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:83a58817-b609-4144-a749-22be4061d8c3 phenopacket.store:UMOD.PMID_14569098_F3_individual_3 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:6c030dd6-698d-4365-b3a5-1a862fa27fc3 phenopacket.store:UMOD.PMID_14569098_F3_individual_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:bd56fb7b-b1d7-48ae-810e-374ed928f271 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:17245395 uuid:9c9f9567-eaf3-49e3-bd81-88b5460fb48c phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:c28fe6f8-b97f-4d45-9f94-f2d0e1055f6d phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:584c314c-8b5d-49c5-9873-e329af79a74d phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:80fe9631-61b4-4fb1-a79b-efeb230a09b4 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:a631be31-4489-484e-8ee5-a9cff6a6ee3a phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:5eee5cb2-c85d-4f4c-b59d-b4f789f9b655 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:cc1097bb-0a30-4a79-846f-4cf3670db150 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:52290db2-333d-4e91-92c8-803345e234d6 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d3a86b10-90e8-4a01-b34f-97b0a581ab8b phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:c9852408-3bb8-4cd3-ada6-968ded32f425 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d8419442-add0-4e0a-8efc-7ef55f218fc0 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:17245395 uuid:8a8e63f3-d1b4-45d8-9840-c2211ca266c8 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:0a19cab6-1a4d-43c2-8c4a-b479595a6127 phenopacket.store:UMOD.PMID_27729211_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P65Y infores:phenopacket-store PMID:27729211 uuid:6dc6b674-90b1-45b5-a84f-5c930e8e1500 phenopacket.store:UMOD.PMID_27729211_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27729211 uuid:f27b37b0-4741-4796-a164-f8b292c18493 phenopacket.store:UMOD.PMID_27729211_II_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:75e54669-1d05-4c13-8688-c3c563c3aba2 phenopacket.store:UMOD.PMID_27729211_II_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:532758ff-3589-483e-ad96-d4237902550d phenopacket.store:UMOD.PMID_27729211_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:1bfd5a24-9083-463c-bbca-5783fca013de phenopacket.store:UMOD.PMID_27729211_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:c4b6f204-03f0-4c11-a934-0bef0ee9b315 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_21 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P68Y infores:phenopacket-store PMID:32274456 uuid:4aa36823-25b5-482a-af77-80a95ff8a85e phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_21 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:e4c78efd-8fff-40b9-94e9-d6dc5e63792a phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_21 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:fbea53eb-7082-4f1c-9ebe-831cf565c69a phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_21 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:32274456 uuid:faf9b2f5-65a7-4053-96bf-75ee5a5a0538 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_21 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:4cb20bbd-4eac-4dbd-a029-caf03215daaf phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:32847529 uuid:7e3315ba-76cb-4da7-8ae4-115d9dc903be phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_1 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32847529 uuid:815653d2-0921-4c13-9c3e-90572e5006ec phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32847529 uuid:4f8612f6-0255-4ac0-a920-e3d486be9415 phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32847529 uuid:deddc751-c3ea-4236-aca8-28ad75b3c36f phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32847529 uuid:ae1bff52-3573-41d7-8026-b8ffeafeed9c phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:27764983 uuid:18816287-081b-4021-b710-814496f4f67f phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:27764983 uuid:e603cbb2-69e0-449e-bda7-5639b8efefd9 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:27764983 uuid:3af47c87-86f2-47bc-9bbb-60b0db44b498 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:27764983 uuid:a40710eb-c730-4caa-aed5-cf42bb2ca2c2 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:531999b0-2d2a-4e56-9b4c-58e02c0f0876 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:c9285f63-ace5-4550-8bc3-bd09f08a7a28 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:27764983 uuid:75586e04-c257-4652-8e25-381c5c8dd24b phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:17cb3948-bbeb-44c1-a9c3-27c931515c42 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:bf0f1793-35d8-4a7c-b299-cc9103dbf1b0 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:005f92e9-83c2-495e-a1db-44d263d861b6 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:0e0c4aef-52f1-4ee6-8b49-2fe4ca64251c phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:0726c347-e2e5-4246-8e1b-7893f768b7df phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:aa70d253-38c6-46c5-afa8-4ec033779576 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:4f21e71f-a4fe-4581-99a0-905a5f6a74db phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:51f989a1-e8c2-46f2-a87c-59b8f2ed40a7 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:1aa38e0c-0373-4fb9-9131-355643abc8a7 phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:33574344 uuid:81ee79ce-67f0-4fd2-9754-63cb923cfcab phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:2feb91cf-5496-4e22-b70f-238a8a75ead2 phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:1dd9c1bc-6aed-4175-b271-3256bb675fcf phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:39170b23-0206-48db-8f0e-b8ae8f02c68f phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:33574344 uuid:508c40f0-46be-461c-9667-1c82af6b66f8 phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:87221cbb-5ddf-4f57-9e06-9ca9c398f996 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1151 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:32274456 uuid:2f4b7be3-6c5d-47ff-b682-15acf74d45e4 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1151 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:aa5a0f79-afac-439f-b985-ecadf8525567 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1151 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:10292395-6323-4d42-9a39-773480a3823f phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1151 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:3600e301-8955-4304-be5c-cd8c6c38c55e phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P67Y infores:phenopacket-store PMID:15983957 uuid:f4d5d60e-8c31-4193-a292-bf96425272f8 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:15983957 uuid:7dcc7a97-30a0-4c60-8422-b3d487089533 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:15983957 uuid:58533629-b7f2-4d67-9d8a-c4f4a8f9b17b phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:15983957 uuid:e0bdffaa-33fa-4526-bf51-f5f2ed2d2007 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:0e3fc845-e710-4a52-9834-8179df179401 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:fc36c335-18d4-4203-bec8-dc4a204d3ca1 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:34c9efcd-be69-4050-9203-a1c43594abcc phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:f3656765-26be-440d-a84a-4496a065f93d phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:81ab1651-e2e0-4471-81e8-d443bc96f59d phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:4c1091ca-942e-409f-b4e3-c13d49cee506 phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:debdc83f-8cd4-465b-a6a6-ba4e1e33eea0 phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:4a8bf2e2-e676-4de9-b563-5e4cae5bf6af phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:17245395 uuid:4d5dde57-fba9-4c6e-91c7-9e396ebb5efa phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:41cfe482-8d92-4eec-96b6-afc96dd27516 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:14569098 uuid:f300ec85-8a4c-45b3-a321-550247ea8634 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:14569098 uuid:0b8d684e-7f92-41e8-91b8-a3c2ec676106 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:1efd6b88-6247-4821-9e51-4e2896a17374 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:0d883ad1-f891-425e-a484-0567f01cbcf2 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:3cf15abb-6399-4116-82ca-6cba8711aed4 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:9f8b3b27-ecd1-4a34-ba99-29dd08c91379 phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:098d89de-9a8a-49b8-ae5d-e6ed4acc4ff8 phenopacket.store:UMOD.PMID_15844001_mother biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:15844001 uuid:9d6b04fe-59f5-4bb4-8ad2-f8370fdddfa1 phenopacket.store:UMOD.PMID_15844001_mother biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:15844001 uuid:80c07ba9-0ce3-4352-a88f-f7eb6f33879b phenopacket.store:UMOD.PMID_15844001_mother biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:15844001 uuid:3cfc9e6a-30b9-452e-af94-e36a9b4605c9 phenopacket.store:UMOD.PMID_15844001_mother biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15844001 uuid:74934024-8cb1-4cd8-9da5-40efa74f69dd phenopacket.store:UMOD.PMID_15844001_mother biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15844001 uuid:b7ba2760-0052-4a4d-aeea-314c9b1c4fad phenopacket.store:UMOD.PMID_15844001_mother biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:15844001 uuid:ed3f4ef9-627d-4929-a65c-fc320bf41d4a phenopacket.store:UMOD.PMID_15844001_mother biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15844001 uuid:cf7dac4b-ff3c-4a4d-9ae1-a594f43163f9 phenopacket.store:UMOD.PMID_27764983_Family_2_brother_of_MZ biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:27764983 uuid:8e1647bd-c883-49d6-a87a-b94f6e8bd4cb phenopacket.store:UMOD.PMID_27764983_Family_2_brother_of_MZ biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:aba841bb-2b5c-4886-9c91-83c0ea8628c8 phenopacket.store:UMOD.PMID_27764983_Family_2_brother_of_MZ biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:cb5ff7eb-d1a8-448d-b6bc-2a8c4d3da69e phenopacket.store:UMOD.PMID_27764983_Family_2_brother_of_MZ biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:2a909e63-16b8-4f85-aea7-bf13129b7d91 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_22 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:32274456 uuid:90b3d9a6-f659-4ce6-a3c2-b7eebfd4c46f phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_22 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:21285831-1f64-4094-9e8a-f2261df7343a phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_22 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:3f5437b2-c7b3-4254-b055-8ccd57213aa7 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_22 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P36Y infores:phenopacket-store PMID:32274456 uuid:b4be986f-1ccf-46f2-990d-b17dd9f69f3b phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_22 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:913b03ae-e4cc-44f9-93bf-ca038a0395c1 phenopacket.store:UMOD.PMID_14569098_F1_individual_7 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:14569098 uuid:b00032d7-37f1-4ae4-b52e-f238ef85d690 phenopacket.store:UMOD.PMID_14569098_F1_individual_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:bbd0b5c1-4798-4489-84bb-71c1997a9c10 phenopacket.store:UMOD.PMID_14569098_F1_individual_7 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:aa7e1d7d-178a-4b75-bfa9-83982d42906c phenopacket.store:UMOD.PMID_14569098_F1_individual_7 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:ca744051-3d23-4120-9389-c690fa4380db phenopacket.store:UMOD.PMID_14569098_F1_individual_7 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:ca378dfc-c61a-4123-a50a-1b741c5e120e phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:282db8fd-582a-477e-8a47-4bc5e19bacd7 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:382f6b6d-a8bc-4870-b49e-9561ef99a107 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:d9e627fa-6b38-42e2-bad9-2a74e05e822f phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:ac486e91-de36-4ce5-8a87-5b6fe26c0ac7 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:7e743b8c-0b02-464b-b5bb-c0a94855a516 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:94b03937-6282-481d-aab2-ee4117b8d782 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:68b3b394-d043-48fa-8cce-d488802db012 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:9461eaaa-325b-4d12-be83-e3e6d63840ed phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:51aecfdd-693c-4371-9ca3-d01d3038d7f8 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:cb28473b-54ad-4d0e-9a58-16e187bdb40d phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:fd63dbb8-f8fc-4200-9f4b-2bbfe453ca8e phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:29513881 uuid:ede7c170-42cf-4536-9df2-3ac708ddedbd phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:b8318e23-ad9e-489b-a9f1-fdd12e615648 phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:8bccb659-ef64-4820-8eae-7ce76d9ce08b phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:d12c905a-7b2c-4ed9-9a9b-532aaa8e5af1 phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:57d4b54e-77ad-425f-9ec3-b0446463a37e phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:291222d9-968d-4c99-9d96-f40304cc1083 phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:7cda00e1-5887-48bf-9c0e-9b64cea44ede phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:a600927c-9179-4a35-906b-b85184868198 phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:181e87dc-f293-4eab-83df-88dbf8c1cdb1 phenopacket.store:UMOD.PMID_29513881_III_11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:7b3f6993-a2f4-4fc4-bdff-f85b1d324224 phenopacket.store:UMOD.PMID_22034507_BII_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:22034507 uuid:de80ae60-3604-43e0-84ff-4e2e88d48e5c phenopacket.store:UMOD.PMID_22034507_BII_6 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:fcec4522-3d90-4abb-b119-ec65959acd65 phenopacket.store:UMOD.PMID_22034507_BII_6 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:22034507 uuid:97201b8d-3501-4a95-9b30-36f1bd5420b6 phenopacket.store:UMOD.PMID_22034507_BII_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:11ca1e29-35cc-4ed1-bf09-2326b8b01cc2 phenopacket.store:UMOD.PMID_14569098_F9_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:14569098 uuid:56e57d0a-b83f-4085-b5d8-e565fcfd8497 phenopacket.store:UMOD.PMID_14569098_F9_individual_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:646efeb7-ca19-46d0-a53f-f2cb51680ac8 phenopacket.store:UMOD.PMID_14569098_F9_individual_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:dfdf3559-4f4b-4111-b158-e960351ee478 phenopacket.store:UMOD.PMID_14569098_F9_individual_3 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:25e008e2-39a9-4331-9e03-58dff4542ea2 phenopacket.store:UMOD.PMID_14569098_F9_individual_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:fffcce9a-45ac-47ef-b471-550e86ada676 phenopacket.store:UMOD.PMID_22034507_BII_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:22034507 uuid:8650c1a4-b0ea-4015-b2b2-f2ef6de8811e phenopacket.store:UMOD.PMID_22034507_BII_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:282c8a0a-e236-4212-a260-b3727997ec3a phenopacket.store:UMOD.PMID_22034507_BII_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:22034507 uuid:dd78d917-84ed-4ab0-be08-db768acd86cb phenopacket.store:UMOD.PMID_22034507_BII_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:4f8b5160-691f-4241-acc4-cc3e73de7673 phenopacket.store:UMOD.PMID_31068150_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:31068150 uuid:80f67321-c697-4b76-84c8-e36271f7d16b phenopacket.store:UMOD.PMID_31068150_father biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:31068150 uuid:2a42ab89-04d7-40f5-8b49-dd2586b81261 phenopacket.store:UMOD.PMID_31068150_father biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31068150 uuid:6e70871e-72cb-428d-a3aa-19636465c61a phenopacket.store:UMOD.PMID_31068150_father biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31068150 uuid:11638c52-a5af-49f1-97d7-9873748c2c5b phenopacket.store:UMOD.PMID_31068150_father biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31068150 uuid:980c4364-3e94-4c76-91e0-72375e4cba8a phenopacket.store:UMOD.PMID_31068150_father biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:31068150 uuid:3c6d03ab-6666-45ec-a0cb-fa5353acb34e phenopacket.store:UMOD.PMID_31068150_father biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31068150 uuid:8b95c89e-25ae-47c5-9306-319ba3410aab phenopacket.store:UMOD.PMID_22034507_AII_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:b241477a-6f24-42e0-a1cf-b061e442dfdb phenopacket.store:UMOD.PMID_22034507_AII_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:4848feb5-8224-4b50-a927-c650b922906e phenopacket.store:UMOD.PMID_22034507_AII_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:22034507 uuid:940b4d91-7fcb-45d9-a6f7-fe89a137c367 phenopacket.store:UMOD.PMID_22034507_AII_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:92b8a8ee-e61d-4d88-aca6-450f096f3f39 phenopacket.store:UMOD.PMID_22034507_DII_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:2af70e31-413b-452e-a234-104fb6b01e99 phenopacket.store:UMOD.PMID_22034507_DII_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:06cecebb-6765-45e9-b28b-4115617b3aa0 phenopacket.store:UMOD.PMID_22034507_DII_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:14265dad-6a00-4638-bb97-cfd591e5dd64 phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:14569098 uuid:3069379f-938d-445d-a9ad-bf277c1d9213 phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:14569098 uuid:66f9edc3-fc25-4d5a-8033-41a3008f7eed phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:b2fabd8a-1713-4b04-96ef-92a5bf1555bc phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:7751c66f-1741-4192-b029-f6021f0fd043 phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:61e6c1db-6a38-4e8b-80c9-5bbcc0af7212 phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:b2528d82-8a64-41e7-a145-c2373a99fba2 phenopacket.store:UMOD.PMID_22034507_AIV_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:59b35cfa-ba07-4299-a73c-593f2ac704cb phenopacket.store:UMOD.PMID_22034507_AIV_8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P28Y infores:phenopacket-store PMID:22034507 uuid:c5f00a09-6d19-40c5-a10e-8c790924046e phenopacket.store:UMOD.PMID_22034507_AIV_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:c043f182-46f2-4cba-b963-7c34515e42fa phenopacket.store:UMOD.PMID_22034507_DII_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:a42a4941-0473-47fe-be8d-5811da2e2e8d phenopacket.store:UMOD.PMID_22034507_DII_7 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:2d541225-b4ca-4e58-b0b8-e4870750fffe phenopacket.store:UMOD.PMID_22034507_DII_7 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:ac79a307-2632-444f-b0e1-2987faa6aaed phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:15983957 uuid:ea12dc8e-ab8b-4efe-bb96-dfa6084748a0 phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:15983957 uuid:11933f2a-6887-430a-bfda-94a4e2532173 phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15983957 uuid:98689006-7060-466f-abcc-ac0cbcb63f5e phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:07c42b6a-79ea-4079-9423-7924c643593f phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:c7888156-7adb-4934-b6b8-15a580cbf3b3 phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:040b99f9-6852-40b0-b690-031f64ec855a phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:ffca4488-016d-4bc4-b9bf-36937bea8c79 phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:beb735fd-d8db-4a3a-ab99-139ea27a1834 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27764983 uuid:48249650-341b-4590-8547-dbcfb6660e22 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27764983 uuid:20d634d9-fc99-440a-9789-f9bef7c2b1b5 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27764983 uuid:4c6facc7-484c-487b-bf4f-a29697b7da07 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:e78d48a0-b784-4535-a17d-297637f9468f phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:beb4bb4d-9467-46c4-a2d4-9ac8c85b0dd0 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:27764983 uuid:4e69b65e-5fb9-4e94-b714-4fa7f653fd94 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:af4c14e8-1a02-455d-bf8f-09e0ea9b6ef7 phenopacket.store:UMOD.PMID_14569098_F1_individual_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:14569098 uuid:15ae9009-f8da-4414-a0e8-5d2299416f6e phenopacket.store:UMOD.PMID_14569098_F1_individual_4 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P26Y infores:phenopacket-store PMID:14569098 uuid:aef3bbc3-a704-497d-bd82-56ba3c24d51d phenopacket.store:UMOD.PMID_14569098_F1_individual_4 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:e656868f-a953-4cc4-a974-d41ed96e4c08 phenopacket.store:UMOD.PMID_14569098_F1_individual_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:3ea4afc1-41ff-4c6b-9255-75fdffc3cf57 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_152 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:32274456 uuid:6b7acd7e-79cd-4a7b-a794-6bb68b1eeb97 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_152 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:98d63050-4129-4574-8ba8-ac3704dd7e36 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_152 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:d465369a-b4a7-48af-b651-bf6133a4b223 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_152 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:0b77d251-5bbc-4fdf-a424-3afc58e71c0d phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_152 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:8f6b7194-3ac1-4def-b158-3e039f234da8 phenopacket.store:UMOD.PMID_14569098_F5_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:14569098 uuid:2cbf24dc-b850-4566-838d-a8c2be9011e5 phenopacket.store:UMOD.PMID_14569098_F5_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:14569098 uuid:2a8f8b32-6eea-489f-916c-c26990560fd1 phenopacket.store:UMOD.PMID_14569098_F5_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5588ff45-2586-4d17-86c3-678505cdba07 phenopacket.store:UMOD.PMID_14569098_F5_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:e7ba02fc-a932-4af9-bb4c-078a86ca4c3e phenopacket.store:UMOD.PMID_14569098_F4_individual_3 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:14569098 uuid:881f2044-9ed5-48ff-b9fb-d2633035a08d phenopacket.store:UMOD.PMID_14569098_F4_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:d06b2dc8-1fe0-4caa-b8a6-66170dcae68e phenopacket.store:UMOD.PMID_14569098_F4_individual_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:98e61b87-b9b7-44e3-a245-6652abba2d52 phenopacket.store:UMOD.PMID_14569098_F4_individual_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:06b90d7c-5264-4af0-b468-29b38fa3e1dc phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:14531790 uuid:1b38de5a-9aaa-4650-ba70-16121898d9d4 phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:f8a4b84e-038a-449a-b6f7-b1dc451aebc9 phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:4b8ea80d-11ee-466a-8bf5-0ec38ed7381a phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:9202fd0a-4971-4e67-887d-1ffd21c082ea phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:1d11adb9-022d-47b3-ada6-ad0318e1c02c phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:14531790 uuid:d2dea740-a19b-456a-9a10-076302f04fa5 phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:7b1605d9-8ccc-4cb6-b2de-d4fa1ead3b44 phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:e8ea949d-2c66-4499-b958-86a76a54318d phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:9c30c8f8-672c-4026-a330-f71e0ec00c32 phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:7a5d9e26-1738-41aa-8ba5-d231b3988cf4 phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:df467554-a4e5-4455-8eb4-99c087adb791 phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P51Y infores:phenopacket-store PMID:22034507 uuid:95c08173-fa7c-4a16-8bea-217040304ccd phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:7b5a9845-2403-46e5-86e9-daf4c5a47be5 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:17245395 uuid:2e69578d-394b-4968-90f1-a2da94eb0fc8 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:99dc5923-ef63-4dc7-9cb4-c5262df8ca6c phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:fe6ef3e1-a63b-4619-bae3-b4c9304bfb02 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:5d389aa4-9025-4f98-a96d-e29cd1d222e4 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:38e29e8f-3cec-480a-9eb0-61044fa46474 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:dc9cdf4e-39e9-414b-933d-df36d0697246 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:0b08b803-99b2-4274-b5c6-cc399db09b46 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:fe846f99-3e73-46ce-9776-4d49f0adac4e phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:18fd14d4-8477-491a-8fc6-ef460bb92030 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:8f020abd-bc07-41b1-9e6e-442e8fc05c70 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:528e01cd-2493-4136-96c5-ba05c5c24e6f phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:25760fcd-f3b1-4aee-a912-ca599e49ee3b phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:17245395 uuid:6f1efc76-d111-4593-8119-5c99ee4c8c56 phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:c833d486-1736-44a1-be71-ca18dadbc894 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:27764983 uuid:768b1d18-99a5-4946-8055-92f51ee392e3 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:b450284b-c6db-4177-ac5b-1f5e08b435fb phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:e613ae5b-8379-400e-8c6d-80d50a3d189b phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:bc590483-2ba2-4589-862f-fa1e862e395c phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:27764983 uuid:b502d89e-20c3-43f4-8df3-d6b11c567691 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:6671219c-bcbf-4b66-8514-666b7a474ba5 phenopacket.store:UMOD.PMID_15673476_proband biolink:has_phenotype HP:0000108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:15673476 uuid:35c32840-923b-48d5-b930-d4f042acb56d phenopacket.store:UMOD.PMID_15673476_proband biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:15673476 uuid:c208658d-6bfe-41c6-a9be-ce181248e1b1 phenopacket.store:UMOD.PMID_15673476_proband biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:15673476 uuid:b8424159-6c59-42e1-b68e-17ded56ff08c phenopacket.store:UMOD.PMID_15673476_proband biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:15673476 uuid:7276fc1b-573c-443e-9b2d-5919b82fcfb4 phenopacket.store:UMOD.PMID_15673476_proband biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:15673476 uuid:6f00fdcd-6f02-4d45-a79c-91965b71a5a0 phenopacket.store:UMOD.PMID_15673476_proband biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:15673476 uuid:33d1e291-5cef-4660-b296-a15c0787b4ff phenopacket.store:UMOD.PMID_15673476_proband biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:15673476 uuid:90c434e5-e591-4556-b92f-e3eb3213678b phenopacket.store:UMOD.PMID_15673476_proband biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15673476 uuid:ecfb75ff-3a93-4ffb-8f19-44245783b7ad phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:22034507 uuid:72ed17e1-9403-48ad-a377-0ab91d46e428 phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:94c2e981-c9df-48d2-b7b6-324bc230189b phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:a1e47a0a-9c2f-4edb-aaea-93235bcb57c9 phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:c79ac172-ad14-432e-a8fc-cb247928ae00 phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:e839b039-e690-4703-8713-453af79fa6d5 phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P47Y infores:phenopacket-store PMID:22034507 uuid:3bc8d152-56e2-4b79-afb4-19b8b73da671 phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:26f707bb-4987-4515-b522-8269ef1a4452 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:3849a165-2b2c-4e7c-bb6f-f1ff5c8ec1ac phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:5dcbebf7-3a0f-48de-bcea-4625c64270ba phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:805af050-f48c-4cad-8e9d-69a2a3fc4174 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:6c4e4b33-9c1a-48c1-aac2-f1bfed944a3b phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:114894dc-0298-4a3e-a9c0-681b2fb2628b phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:623f4e4c-d24c-4dcd-a64c-f1d31fdb245b phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:79a298f3-feda-4ecf-a9fb-78f4ef61dcaf phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:ad55da00-a883-4ca7-bc50-2335a534e9e9 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:6e21c826-5411-4647-81e1-ad07d9defcf7 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d7ab8d39-10ff-4cf3-be51-5010848d65c9 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:54f652de-84ef-486c-bf63-75dedc0c9929 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:30baa411-766c-4a97-a6d7-b37e0d45b2cd phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:26d96c36-d75f-4f99-820f-3a3f01af2429 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:c29b63bd-4f78-470f-b912-e9e18c2e8ec4 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:9caa5082-c217-49f4-9d3b-67bfffc91d9d phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:17245395 uuid:950d3ed9-8290-475a-b416-ee616fbe9e9f phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:f058554b-c534-4f45-9d5f-1efc552aa3c6 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:15983957 uuid:940f39d8-432b-4b1e-914d-d89c1013a4c9 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:15983957 uuid:442b8058-bb08-4fda-a677-e826c1484b76 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:15983957 uuid:1d15799b-0cf1-4955-b410-122e72877bde phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:15983957 uuid:ab00d53a-e122-4de6-97a8-49c64970bc83 phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:172ffc5b-4d06-4103-8475-4355f90d831c phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:c9948571-0819-4a92-8d6e-94fdbb5d99ad phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:1c580a2b-c92b-4229-af25-70e0bd1f09e9 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_114 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:32274456 uuid:3e923076-8396-43b0-ae61-655556de7c88 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_114 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:5405e11c-b10c-4b8d-9ccf-173c2501fedc phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_114 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:f6f37c91-cb56-405b-81e8-eca6cc923b8a phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_114 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:32274456 uuid:3d360328-d798-4ca4-acae-08e4ae422e99 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_114 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:89cac121-16a4-444b-84a3-e5f34214d2cc phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:15983957 uuid:f1b14142-9ae9-42a3-a439-5f2ad226a856 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:aee0ed15-3909-4332-8028-b4f74be7bbce phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:f9fff694-3b08-4913-9469-124e46293c6f phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:e3101549-f643-44fc-af88-794f9faba732 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:5b925090-32ed-489d-b7a4-d19b6ff562ea phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:cb0c6f1c-3f04-4281-9218-ab8d04fc3888 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:d663b817-5426-46c8-ab43-691440d938d0 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:74dbf41c-d625-4682-b589-f839211afa8d phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:737e414b-1d34-4e39-be8d-871ba59fb9f3 phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:8c092886-24f6-46b7-be10-01f97d589979 phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:1fcc146e-0b51-473b-a7fb-fdfc65ed0295 phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:2db89fed-21a5-4e89-9b7b-387f1b646931 phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:eeabfb65-b6c1-4f6f-80e5-7ce81746aa3c phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:ff9ab85a-0e43-4274-a5d8-87936dd58b63 phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:fc5e3593-9624-4596-994b-50574cdd12cd phenopacket.store:UMOD.PMID_29513881_III_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:5e8b2346-358a-402d-8ee9-1159b75fe36a phenopacket.store:UMOD.PMID_14569098_F9_individual_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:14569098 uuid:f83d5317-d1b4-4917-848a-eb43e6ca3a3b phenopacket.store:UMOD.PMID_14569098_F9_individual_4 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:14569098 uuid:e05d3c9a-2c84-410c-801b-096ce3243137 phenopacket.store:UMOD.PMID_14569098_F9_individual_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:fed5c43c-1147-4d3c-b8c1-c70d2a3b00f2 phenopacket.store:UMOD.PMID_14569098_F9_individual_4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:7ab5be3e-4c94-4686-ae22-9ee088f4eb6c phenopacket.store:UMOD.PMID_14569098_F9_individual_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:ac67194c-64c6-4922-a5ff-db59ffe269aa phenopacket.store:UMOD.PMID_29513881_III_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:beebcb4f-fd76-4e50-ae8c-f03202a81e7b phenopacket.store:UMOD.PMID_29513881_III_2 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:f1bcbcee-552b-4a71-8e1f-d174704f8387 phenopacket.store:UMOD.PMID_29513881_III_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:d42031cf-5c2c-43af-8d89-c12fc80f5198 phenopacket.store:UMOD.PMID_29513881_III_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:1f37f456-d0b3-4152-bf61-4366731bd9de phenopacket.store:UMOD.PMID_29513881_III_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:e85f6219-651b-4e87-8147-cea389c1b826 phenopacket.store:UMOD.PMID_29513881_III_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:0fd67e13-372e-47bf-805c-5cfc12d623bb phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P49Y infores:phenopacket-store PMID:33574344 uuid:d7801776-e01c-4d66-b945-b6dea817e459 phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:35640b6e-f841-4a40-be74-5664d18babff phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:096e4005-de70-44f6-9285-35d28687b329 phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:f9719683-3c06-4ed8-956f-bfbde4f58ce5 phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:43a6816c-2579-4558-b560-11524482f40c phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:bc3cfae7-b085-4d78-ab1b-57acbf626408 phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P44Y infores:phenopacket-store PMID:33574344 uuid:366dbb47-d4bf-487c-91e7-8ec14acbe78d phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:5e3cb098-27df-4360-8959-56da48aca0b2 phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:32274456 uuid:083ffc2a-767d-4238-abbe-49f7bb71ec58 phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_11 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:8ff63e75-917d-427e-bc4c-7943350f9a85 phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_11 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:c61dd4ff-ab36-4597-b1b5-77aa47eac20d phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:32274456 uuid:8bae34a3-05c3-4df1-86af-85d7d2654eff phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:d0c5e22f-f8a1-406b-85dc-df2115e16270 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:ebd52f99-5f6a-4a79-b943-99519eec0ea5 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:cf0d2b57-5baa-4730-9888-e3d68c451c48 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:92fcb433-d2a4-4f6f-bec0-f7e0a8d30532 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:937b31f2-0afc-4a61-bd33-8862732c3216 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:9761823c-c39b-4e6f-be6b-180ba83fa534 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:2cba79e7-8b76-41ee-8b2c-39a274f6da24 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:7e40c711-7742-4908-89a0-cd57ae0562c4 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:cc8beffd-2f8b-4fd4-baea-edc7e8ae8d03 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:6b5ada98-c482-49be-a22d-e0970d062d10 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:b0e7c125-c326-4161-a75f-7777de2ee9d4 phenopacket.store:UMOD.PMID_29513881_V_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:d9c323d2-d00d-4260-ab63-760e644cf65a phenopacket.store:UMOD.PMID_22034507_AII_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:d372f563-c16e-4208-981b-0496e0e2be1b phenopacket.store:UMOD.PMID_22034507_AII_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:f6fc7991-43cf-48d3-9edc-09f1112f8b9d phenopacket.store:UMOD.PMID_22034507_AII_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:aebb4829-9d26-43f2-95e7-7626bffde4b6 phenopacket.store:UMOD.PMID_22034507_AII_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:bf5dc47b-97e3-49a9-b9d2-a67843bdc2fc phenopacket.store:UMOD.PMID_22034507_AII_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:6c244e56-80a4-48ed-878a-cc533c4041a3 phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:33574344 uuid:f72709e8-8c4d-477b-a69f-22ac262c2099 phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:f61ba997-3ead-4d55-b4eb-55d7602aedf4 phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:f3024ba0-31a3-45af-b2b0-0b9f0cdf051f phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:2ad874e2-aae3-4f5c-b552-0003094bfcfe phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:33574344 uuid:5d5f35c9-04de-407a-b852-40d66690c1aa phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:345990b4-bc18-4d71-9d49-6cf94bc1f636 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_TJ biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:27764983 uuid:5f95e2fe-c4db-4026-8096-1f12d5d1550c phenopacket.store:UMOD.PMID_27764983_Family_1_individual_TJ biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:27764983 uuid:7346298f-6114-440d-8927-4489ae33e891 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_TJ biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27764983 uuid:219df183-2e46-45c6-979f-6f86dbdb8c2f phenopacket.store:UMOD.PMID_27764983_Family_1_individual_TJ biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:27764983 uuid:87721a90-0332-45a1-86e0-a9a423a26eb1 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_TJ biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:e4bddc68-1fcd-4f22-8578-6c2fe7a3f42d phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:0d507899-6ef7-4a76-a85a-483bebd1c8bb phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:ed90bf2d-920c-44b8-a7ac-d22bf3f6cb97 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:0962c683-d252-4945-a105-847e73928ae8 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:91b08c69-88f4-4797-8eaf-5185d44fd1b3 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:76d4dc31-adef-4760-a75f-f879111a2540 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:b0eb05a2-b4b8-457b-8e3b-5b5b525d9ebb phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:ba2da8d7-9d33-457c-bfce-400f35ccc966 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:77160bd8-9572-454b-b72c-e9a4b258f8d0 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:23988501 uuid:7edf6fbe-8e96-4de3-b4ed-31889b4c6d44 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:828d8f99-9411-442b-aaf9-92b4fc116ea3 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:f556f6c6-1df7-46b4-88c6-99997b355fd6 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:589cfd87-2c1b-4393-b754-941536a9087c phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:78539927-26cb-4438-9c4d-181ea645fb23 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:83c42a4a-54c9-4b8a-9ac8-334a03562ad2 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:e261cea8-4a94-481a-840a-9c43ec0c8ee6 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:76b39a83-3545-41f2-8015-a5d2449b524d phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:23826568 uuid:1ed4dc33-7d68-417a-95a3-875346865aaf phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23826568 uuid:46d05e61-680c-4c78-a5c5-113e5a80d169 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23826568 uuid:6ea64661-f95f-4b4c-91db-6c53b857fee9 phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23826568 uuid:5b2f50fe-2dbf-4cc2-9593-950dc79c305f phenopacket.store:UMOD.PMID_23826568_index biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23826568 uuid:467ccc3b-9501-411f-bab7-58c07601b6f7 phenopacket.store:UMOD.PMID_23826568_index biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:23826568 uuid:bfe46bc3-5b51-46e8-b2c6-9ec2da972f86 phenopacket.store:UMOD.PMID_23826568_index biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23826568 uuid:044beaab-ebb9-4d7f-a039-88693621e2c5 phenopacket.store:UMOD.PMID_23197950_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:23197950 uuid:9c952dae-58e7-4221-b83b-4ae66fa25423 phenopacket.store:UMOD.PMID_23197950_father biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:23197950 uuid:6ca522f4-ac3f-48ad-9f9d-00d7f18c13e2 phenopacket.store:UMOD.PMID_23197950_father biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23197950 uuid:370de7d5-78d5-48e1-993b-9d22fbbc0601 phenopacket.store:UMOD.PMID_23197950_father biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23197950 uuid:c5330f80-9e58-4df6-8247-c5b034b6f5b4 phenopacket.store:UMOD.PMID_23197950_father biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23197950 uuid:0c3084db-59c2-4e7c-a537-bb9bf3997d25 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_117 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:32274456 uuid:6ccee72a-f83a-406a-9134-f6db0a24d620 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_117 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:f7f2f8e3-dc74-41a2-8fd9-2a7dca68683d phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_117 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:8610efdf-0e54-45b4-a425-502428d08dbb phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_117 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:20c2e118-0fe7-4f2e-800b-3fb5591986a4 phenopacket.store:UMOD.PMID_14569098_F1_individual_11 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:14569098 uuid:be9614e8-7655-4ab9-ba4f-b768cfec9a5c phenopacket.store:UMOD.PMID_14569098_F1_individual_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:6ca451cc-f46d-4b35-af83-1132779d4861 phenopacket.store:UMOD.PMID_14569098_F1_individual_11 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:b9d48e5c-4dd7-457c-8622-9dd587810d4d phenopacket.store:UMOD.PMID_14569098_F1_individual_11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5e6aa491-85bd-49b7-a12a-fb23c5296c54 phenopacket.store:UMOD.PMID_14569098_F1_individual_11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:49eecb85-398e-4b19-b41a-3937de786a66 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:32274456 uuid:d4f02646-7499-4ab4-ad67-f4056ac4134e phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_11 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:77c1a1e1-aec6-4de3-8932-b3e24dfbb18b phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_11 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:c2aa3d18-49f1-478b-9518-6a9b976a939a phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:4e0d08c7-b4e3-4cb1-85c1-dd6c9c69f677 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:ee53b972-919e-4393-82ad-aa37e8a606c1 phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P65Y infores:phenopacket-store PMID:22034507 uuid:12b1d990-bf56-455b-b767-3f0b3402d2e0 phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:65f74dd9-eb40-4e62-9d9d-a5368435ea45 phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:553b5280-ea7a-47da-b650-712643158a4a phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:64080bd7-ae36-4ebc-863b-42282fdc2355 phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P60Y infores:phenopacket-store PMID:22034507 uuid:1acd18d3-5257-4568-89b3-048aac7cfd10 phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:0766fa80-d85e-4979-a136-7aaf1abc4ef5 phenopacket.store:UMOD.PMID_28509303_sister biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:28509303 uuid:2d4f4967-8261-4f4e-b70e-c8ec24e33313 phenopacket.store:UMOD.PMID_28509303_sister biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:28509303 uuid:f130bf27-d3ba-41f0-b23e-3ed9875d0388 phenopacket.store:UMOD.PMID_28509303_sister biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P61Y infores:phenopacket-store PMID:28509303 uuid:6ddcceb5-1610-4a1a-859f-6bf2daea245a phenopacket.store:UMOD.PMID_28509303_sister biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28509303 uuid:8d7d267c-0b29-4a83-8a21-fe12082292c5 phenopacket.store:UMOD.PMID_28509303_sister biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28509303 uuid:1aaf3c63-05c8-40b6-80c4-2fa136d23416 phenopacket.store:UMOD.PMID_28509303_sister biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28509303 uuid:a8214586-18ff-4f71-b6df-499cc486772b phenopacket.store:UMOD.PMID_28509303_sister biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28509303 uuid:cb9c6eab-bafd-4c85-ab60-a536fbec3882 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_113 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:32274456 uuid:455358ab-87d3-4269-a93a-acad411de49f phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_113 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:94d34929-2c87-4799-bcf8-e6d482905d58 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_113 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:32274456 uuid:64b176ff-37df-4cd4-a5a3-80495b22ee41 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_113 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:e99b77be-2065-43a3-81f1-d948861c3bba phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:506f1cd5-5ce9-410c-9b22-352a50f42d0c phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:6615c377-32bc-47f1-979d-35832edd4e68 phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:78c5c5c0-910d-4564-a20c-bbf441659da6 phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:6900eca5-efed-44a7-a5a5-cf03c9d9d5e7 phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:d0a151c7-b0f7-4e26-9dca-43fd65b922eb phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:22034507 uuid:daf94188-4ac6-480d-a587-6b38c185f280 phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:61f2b574-1a35-4c10-9c92-91c71d798730 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:28509303 uuid:530e75c4-206b-4614-bc34-ab621a1d5790 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:28509303 uuid:8bc1a658-8303-4ac2-81ea-f7bed0a8e966 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:28509303 uuid:f8839b2e-fdce-42ae-92ec-490ad1844dc9 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:28509303 uuid:ee85d41f-5849-4ada-9b22-8a61abbac283 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:28509303 uuid:074986ea-5c58-430e-8787-0aa29ad3288e phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:28509303 uuid:16dc51a5-c835-42c4-9758-1297f3aeb51e phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:28509303 uuid:443dd487-5a53-43bd-8f4d-62f84a3bdf10 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:28509303 uuid:f5ec8872-e2b4-46f2-96b1-b6e4d8befeef phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28509303 uuid:9ae6509c-10cd-4e3e-9ad5-b90f9990a0c7 phenopacket.store:UMOD.PMID_28509303_index biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28509303 uuid:6d9705ca-ab31-4685-aa95-7533a9d4d494 phenopacket.store:UMOD.PMID_28509303_index biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P51Y infores:phenopacket-store PMID:28509303 uuid:8d952958-a529-411c-a798-2df0c0936a90 phenopacket.store:UMOD.PMID_28509303_index biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28509303 uuid:95e78821-5d81-45a7-9450-48c0dc71806b phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:26cfb58c-4cb7-454e-a9eb-34a5911e8f5e phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:5c1110b6-1376-43e7-890a-37796b2778ad phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:45f71fdf-1de3-4c81-860a-f1c79c372658 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:19daf913-3247-47c7-ad11-e9b132c986a8 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:c8918647-61ba-42ed-a54f-2e4c71cf1bdb phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d3c42d80-afc9-4ff6-af8f-807bddcab4f0 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:e910c15f-a60a-4ae7-ab7e-23a054a8324a phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:b1491292-a6ca-4e4d-965d-60b089362122 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:e5f7e388-e9b1-4215-8f6f-1a33afad3224 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:872847d3-029a-4d15-815a-3638729edaee phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:87893d61-cd77-4b68-8132-ae41b91f0687 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:bef541cf-d5ed-4726-beba-33876975afc0 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P9Y infores:phenopacket-store PMID:17245395 uuid:80845f61-4a4e-427a-8046-738661bffb66 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:f9d6affe-06ce-4e17-806f-700338f44a47 phenopacket.store:UMOD.PMID_34904096_patient biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34904096 uuid:01704814-0c6d-425f-ad58-ed8125a4a0bf phenopacket.store:UMOD.PMID_34904096_patient biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34904096 uuid:84191bc7-1a66-4acc-b5e6-c4a007da2dfb phenopacket.store:UMOD.PMID_34904096_patient biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34904096 uuid:c5c7a2e7-a92a-4782-8f79-5c26d09a774a phenopacket.store:UMOD.PMID_34904096_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34904096 uuid:448006e6-401e-4263-9155-c9868d937daf phenopacket.store:UMOD.PMID_34904096_patient biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:34904096 uuid:a67186fb-add0-44bb-bf44-04f6f2a017f6 phenopacket.store:UMOD.PMID_34904096_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:34904096 uuid:c67702db-a22e-4c6a-9fd2-5b78add2dc97 phenopacket.store:UMOD.PMID_34904096_patient biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:34904096 uuid:6ea89052-d360-45ce-8aa0-0de29959aaf8 phenopacket.store:UMOD.PMID_34904096_patient biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:34904096 uuid:65fc125e-c510-471a-8910-cb8e99401f5a phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:14531790 uuid:8404bae3-dd2a-4754-aa1f-be4a3daec7c4 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:c6f066ec-7fd3-4052-adda-4b745fb1e16e phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:2fe2392c-b9bc-4198-acd2-997feb37ded9 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:2ddcf759-2657-488a-87e3-58827c419282 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:70d30049-265f-4c9b-b8b4-c17dd962f307 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:0c303ab5-f1f2-4962-9042-d6ac5c95a005 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:f33d22b7-36f2-48c0-8a04-5f2e8029dced phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:3329f2d1-15dd-4823-8537-b47225b757cb phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:14531790 uuid:c274060e-ff56-4948-a1cc-e2a0a8aba1d2 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:e9e0a7d8-0464-4e00-b126-0c6305f9a3e2 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:14531790 uuid:61a93f40-db17-4700-a91a-fa54f24ccb84 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:7cd87fd6-f0c6-474b-ae61-4ada3eb7867d phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:c65fbaa4-6a3e-4384-8bad-88163e430449 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:ad7309ee-34d0-4638-b68a-5e1fe4ca2834 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:bbffb1b0-cf7b-43ae-9b4b-a8e42139b589 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:0a833d69-0fa3-4afa-863d-d69a253edcfa phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:65f27456-d435-4faa-9e12-1ee0957cfcd0 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:5d12f19c-6df3-47ed-8753-b525716aab53 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:fe53e8a8-f7c4-47f7-b12e-f33ef4ac0acd phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:14531790 uuid:4891daaa-f1fb-4c38-b48e-5b0e26970fa4 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:d6695bba-3a19-495e-96dd-fba314ef3a28 phenopacket.store:UMOD.PMID_22034507_DI_8 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:a303af5d-036c-4842-bb2c-b0e817081e26 phenopacket.store:UMOD.PMID_22034507_DI_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:e9019ab4-9e7d-4117-a909-99e5985f3951 phenopacket.store:UMOD.PMID_22034507_DI_8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P49Y infores:phenopacket-store PMID:22034507 uuid:1b5d30e4-0857-4266-87c9-68b673b53015 phenopacket.store:UMOD.PMID_22034507_DI_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:bc9bceed-64ce-4763-957c-45214171704e phenopacket.store:UMOD.PMID_14569098_F2_individual_4 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:14569098 uuid:70c6799c-79d8-47ee-b181-02c28a7a0bd3 phenopacket.store:UMOD.PMID_14569098_F2_individual_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:92ba7d5b-f440-46af-8e2b-1cd4ce1cb2e9 phenopacket.store:UMOD.PMID_14569098_F2_individual_4 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:cd9f277c-9988-4616-821b-b46252d2a434 phenopacket.store:UMOD.PMID_14569098_F2_individual_4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:6a7283dd-8dd6-4d13-9a0b-aef7a8848ecd phenopacket.store:UMOD.PMID_14569098_F2_individual_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:f9487802-79c1-4de9-a0da-2ce9fa68b911 phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_234 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:32847529 uuid:7129fd90-e14b-41a3-864b-db632c534eaf phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_234 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32847529 uuid:d08f7c9d-e5ac-4fed-8654-b12ab1a57104 phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_234 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:32847529 uuid:4a100ebe-f40d-482d-9721-aa9580effa27 phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_234 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32847529 uuid:df26be70-665e-4666-b466-8d9ea22c34e0 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P50Y infores:phenopacket-store PMID:15983957 uuid:9baccfee-f8d0-4151-8e2c-bb37c295331f phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:eebbc902-928e-406b-a8c8-31426b4b3a81 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:7dc3eedd-f59e-43ea-a4a4-a38e9ccd6d92 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:433f4f59-2f4a-4cdc-8196-62bf60a09d44 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:f7ae2572-d5da-4742-aa55-1083f9808181 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:023f9e27-16fc-406a-a36f-a3b600e3c4a6 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:28d9c6a9-279e-4021-aa39-e548c15bce55 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:37d0e266-5bbf-45f9-95d5-b57d5d333e61 phenopacket.store:UMOD.PMID_29513881_IV_13 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:b6eb3480-8689-49af-a9f2-e93cf17dca06 phenopacket.store:UMOD.PMID_29513881_IV_13 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:16958689-286d-4444-a824-a345937fbcd5 phenopacket.store:UMOD.PMID_29513881_IV_13 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:a5a2d4a1-31bd-4f8e-b596-b5144fb288be phenopacket.store:UMOD.PMID_29513881_IV_13 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:677ade9a-efbb-4692-9332-e0b9067e248d phenopacket.store:UMOD.PMID_29513881_IV_13 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:2b177dd0-b36b-4b6a-b735-89df9f386360 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_13 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:32274456 uuid:fbe49d45-378d-412a-bfde-2969a16bbb53 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_13 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:eef18f79-8681-45d8-bb30-4c51a15b3b07 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_13 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:b8df2938-25f5-4501-b71e-721f101785bf phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_13 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:d20054d7-3ba7-4115-8a04-63ede2aef2a8 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_13 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:cbac3496-e521-4dfe-b9ad-cbaa5f5192a8 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:21060763 uuid:c267b99d-3820-42fd-97ab-ce852a762610 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:21060763 uuid:1ae78b1b-b7f8-4f6c-8b3f-6d0a3ff2a0c0 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:21060763 uuid:67df4018-58b5-451e-b7c9-1790e4453072 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:21060763 uuid:ec5e7d37-f4d7-4ebd-bc26-12a15f2f2d10 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:21060763 uuid:aee749de-54a8-437e-b646-c6977e0b3663 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21060763 uuid:13d2d545-839a-4df8-90fb-3b16e19152aa phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:21060763 uuid:1de2322a-a26f-4e2a-a83d-18d83f9f0359 phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:21060763 uuid:9796a8f2-f304-4ca3-a8d6-4ce56175ba6e phenopacket.store:UMOD.PMID_21060763_male_index biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:21060763 uuid:c58a1d02-2901-4ac2-b77c-d49a83453a63 phenopacket.store:UMOD.PMID_22034507_CII_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:1fbb2731-d01a-4be8-a014-92c23881c0f0 phenopacket.store:UMOD.PMID_22034507_CII_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:9f0288a0-689c-439a-9001-e1cf01d10f59 phenopacket.store:UMOD.PMID_22034507_CII_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:127179a8-3f8b-4427-a3c0-6ea4618f8949 phenopacket.store:UMOD.PMID_22034507_CII_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:85e9edf4-e31b-44fe-a4fd-e18c57e53d18 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:cde430f7-e7a0-449b-aca6-2cb74499e759 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:0f0afede-217f-4c79-8132-9f880d70b3bc phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d62bdc66-ffa6-457c-8b94-d9bc1a1fbb74 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:89ee5828-5fca-4b71-8426-72865dbb7e49 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:60502141-3101-4405-8c51-69b8322c1d4e phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:2bdc0b87-7b68-4bd4-a333-295cd00aea92 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:acd0b270-ab79-459a-a1a1-2aab394d98b1 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:13fe0b20-b45e-41d3-aeac-484ed3051249 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:e8a3b6b9-1da0-4bf9-8942-5fc511332157 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d75e3d99-888a-48e3-b843-42a81e2d014c phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P42Y infores:phenopacket-store PMID:17245395 uuid:df8e5335-aadc-471e-aec3-e3d78d99dbf4 phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:585ea867-0319-4fd1-a021-a59bfc892ac8 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0000108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:fbc51713-7d92-4d79-b299-31edfa9313db phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:c37fa31e-5b6b-4af5-9ffa-4170974860a9 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:9e7cf2cb-24a6-419d-9bc5-d3e23133c026 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:d1a0bcf9-2fc5-4b80-b21a-b307c9e9d8b0 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:07b05ab6-ae5d-44b1-b645-2f6444b0363d phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:13ce0bec-452d-46ef-942a-e95a9403037a phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:47697818-28c8-4a98-a7e3-0aa415ad3828 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:5bc26463-5800-4157-a8de-20c5e564f501 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:33d36158-2859-4ca0-9864-1404ac8ae3c6 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:e03087f7-1967-4a75-9698-5e6d410e0df4 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:4a3f58d5-4878-4b01-b163-875a75fa0961 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:36606057 uuid:ba9d313d-d357-49c8-90a4-b31fbe8f70fc phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36606057 uuid:3c180c61-a642-442b-bc7b-8b514f93b21d phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36606057 uuid:5ccaa0e9-b6db-4aee-ae87-caa9c896c6d5 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36606057 uuid:842d5504-1637-494e-b4cc-6b9d5d3474cc phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:36606057 uuid:3896b79e-ea28-498d-b717-ffe663afd780 phenopacket.store:UMOD.PMID_36606057_Case_report biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36606057 uuid:d61f04c5-b417-429a-9ae6-56df626f14e9 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1141 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:32274456 uuid:5c84faeb-15e0-41f9-9193-dd525dcef20b phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1141 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:b0ae97f9-657e-4fc3-af25-1c576be70611 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1141 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:8fff9377-60da-4dbe-a91b-034acbd77935 phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:29513881 uuid:31c78514-a0c9-4e26-80ec-99ad17286201 phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:29513881 uuid:4ddf9b1f-c182-4a43-91cd-c4fa3ed23e3a phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P62Y infores:phenopacket-store PMID:29513881 uuid:fcbbd9a3-9184-4370-b28f-31e26fadb21e phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:5c363077-d0d3-420a-a5cc-078d179001ef phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:846b374e-4ec5-48c4-8cd3-54e70b44dda4 phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:29f3f105-29cd-4fb2-8499-50e79fd443ec phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:dbd71143-a06f-454e-9074-6e7fbc3e52a4 phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:e3979d5c-a2aa-44bb-8ea1-c4f419a4be0f phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P57Y infores:phenopacket-store PMID:29513881 uuid:c9451776-b75a-4e19-851e-f2301944e0f3 phenopacket.store:UMOD.PMID_29513881_III_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:c5da6649-7c9d-4945-8138-bde29cc20b63 phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:33574344 uuid:b40daf83-3365-4ef7-98c9-638cf4f1325a phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:33574344 uuid:a6ee4c6b-60b8-486c-b13a-b8cca8355a56 phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:96987b11-e6ca-4819-a3df-364f65fdd9ad phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:bf738315-c445-4b2d-a7e3-c1282babd17c phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:631ba09f-deaf-4e97-a6b6-1df4af4656f1 phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:12e0f6b5-b3d2-4c4a-9f87-50c62395bc0e phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P20Y infores:phenopacket-store PMID:33574344 uuid:c3e00766-6262-4946-8a94-c4d4eb4be815 phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:574e7d9e-6444-4b5f-a6f2-9621ff77fd92 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:15983957 uuid:453eace8-8400-4007-af3a-07ed411d81fa phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:15983957 uuid:2493cdc7-5095-480f-8cab-e8c009601e78 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:804af2b8-0c39-4752-9927-055d0c6f693e phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:1b97d116-c383-4743-9fd7-902b4e44c4c3 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:e21d918c-f0a6-4ffe-9975-321fa793d223 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:21cea059-74ba-4a0f-b169-240757449d2a phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:d23e9423-715f-4bca-a52a-ef4b7f7599c7 phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:63893869-6aa2-4efb-a566-598e78f511d3 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P62Y infores:phenopacket-store PMID:15983957 uuid:b371bbbe-6df9-4de2-b22c-e1be3c731fba phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:4a3ac4a5-4886-43cc-8025-866876f3e6f7 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:b5777daf-2f72-4afa-8b17-8c3889b9fa83 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:5994e79d-8e16-4d45-beb8-f38de1812210 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:572dfb00-c1a6-494a-aa1f-6fa243a3653c phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:40180751-0196-48be-8a00-b170cacb3ec9 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P13Y infores:phenopacket-store PMID:17245395 uuid:b14fc2f9-2bb3-4b4f-80ec-77b46a3c3d2a phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:a854d819-bb39-41a8-9180-929513573616 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:c8e32075-ada4-49be-9b90-7243893881ee phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:14047e22-4b01-46b9-a1c8-163a8745744c phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:3e400e10-4969-41a0-bfd7-2c82ad9c7a28 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:3186f809-ed87-4f5d-a506-25b7e90360a6 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:a4d2c174-5af5-4f6f-9e35-c6106fdc86cf phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:f5f90639-6991-45e6-bd59-09eb1cded757 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:2515bb1d-17a5-44cb-9d44-94a16268a579 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:bf19cde9-e328-498f-bd2e-69b9adb77355 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:693aab82-970a-4110-acb7-2e044cce00c2 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:c994acfb-ca3d-4394-86a4-010f684c890f phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:69d2f203-c2eb-4aae-b036-ccc016c215cc phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:60378e96-4eb8-4d8b-93c9-2ad7cc70876b phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:c0fee284-fc49-42fb-b07b-41543f5579e4 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation P13Y infores:phenopacket-store PMID:17245395 uuid:f4651af5-3e5b-49fb-86b0-b6af6453a114 phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:5d7b1d7e-6356-4d31-ab51-f65c16570cd9 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P67Y infores:phenopacket-store PMID:15983957 uuid:e27aa5b0-33e8-48e1-9be2-518269a9b482 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:8df62b04-52ce-45fa-bb53-68b7a9a01ea0 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:2d79cd83-8deb-483d-97e6-ecf6c22b2ece phenopacket.store:UMOD.PMID_15983957_F2_individual_II_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:c7cc932a-580e-4596-99dd-ac11babb80c2 phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P67Y infores:phenopacket-store PMID:22034507 uuid:633163f2-f662-4c67-8af8-43c51caa5329 phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:362030a6-2508-4b9f-b676-258cf4175d1a phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:ee960560-0730-4dae-a83d-56747dbea9d3 phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:cf66f7fe-b0af-42a0-b088-8cee2bb16ed8 phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:5942b7cb-e91e-441e-82cf-e9e3d6b8d490 phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P57Y infores:phenopacket-store PMID:22034507 uuid:d31e31be-6c4f-4133-a841-b13054d2fd0a phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:bd1de830-c03f-473e-837e-a07588625742 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_MZ biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:27764983 uuid:d932a155-9fb2-4eeb-947f-b0936e59abcf phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_MZ biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27764983 uuid:0a3ae89d-16f0-4771-a267-31cc536d97dd phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_MZ biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:10c68ef0-8c5b-4f9d-9aef-a2826f30f449 phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_MZ biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:311aa083-3f53-4c39-a05e-df99edd7f02c phenopacket.store:UMOD.PMID_22034507_DIII_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P53Y infores:phenopacket-store PMID:22034507 uuid:a180580b-820d-4e50-bb41-3d6ff1c6d9b2 phenopacket.store:UMOD.PMID_22034507_DIII_1 biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:5c7315f9-4a00-43b5-ada9-a82bc735336e phenopacket.store:UMOD.PMID_22034507_DIII_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:2658bdf3-63e5-4173-a7ae-154feaa9a005 phenopacket.store:UMOD.PMID_22034507_DIII_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:22034507 uuid:3c6ee018-d80b-4bd3-9765-b1d3430f8cde phenopacket.store:UMOD.PMID_22034507_DIII_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:9913aff1-24af-4159-9c39-5b249caa0c9f phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:23988501 uuid:d5589440-7dec-4fef-8bb4-305ae54504b1 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:cbc40ef1-a5af-4c20-aedb-abd06d0d5036 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:81ccd91b-5694-4677-bb8c-a5ce7b651b0a phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:5ef15235-274a-4e07-96d8-adf48aad194c phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:6301ac03-8bfe-4964-8047-4ed8bc63dd2d phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:0ba2c980-05c8-4963-a97c-c41c644f306e phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:8a4596de-fb20-4615-abf3-01f2e597b661 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:23988501 uuid:426e4e9f-4eb2-44cd-a48d-40f647d8859b phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:7f243ec5-4822-479b-8f73-05a8b6a0ed27 phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:14569098 uuid:0d9a7f8a-7d58-4940-96c8-f2bd490f3f2e phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:14569098 uuid:3c764340-5792-4417-a30f-05e7f474fa81 phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:d455ea8f-85a5-46a4-9af1-a3f4b507abdd phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:f9a3fbbf-9c94-474a-a2b1-6876b996cff1 phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:0d6f2822-e643-4ab5-bb7c-3e0640474cca phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:9e758e65-9a6a-4839-89a0-85c6ff7a954a phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:cac08262-0a8d-421f-a753-1b989d4e8825 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_151 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:32274456 uuid:b0c13ef1-6a3e-4ee7-90b6-68c2b09b585e phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_151 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:4a1ae671-2006-4d6a-8bb6-244039ecfe9e phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_151 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:c6817d34-0020-4098-980b-8ff72af6bf5d phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_151 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P44Y infores:phenopacket-store PMID:32274456 uuid:fc81dac6-ef4a-4f98-9f66-a574a8f6d909 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_151 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:2fded2c8-13cd-4afb-9f96-de2433fb08bb phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P69Y infores:phenopacket-store PMID:32274456 uuid:912c7c35-b6e8-448c-9a72-03ea80f90798 phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:1676c7c2-9554-42b5-ad34-c05ddbf20b1e phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:2678b5db-7b17-4dcb-825e-96452c4d828f phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_phenotype HP:0000103 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:381b9ae4-c001-4e1a-bc91-25e47b620e72 phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:3c605e87-a422-44ef-8212-a178cafe40d2 phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:ed495efc-f55d-4cd7-bde2-f5ef0397abdc phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:8d7b8919-b72e-42ed-8548-df85376a9ae8 phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:29a71b2b-f97a-4c7a-b3ad-1ef0d0a417d5 phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P35Y infores:phenopacket-store PMID:22034507 uuid:453ea90a-8d30-44ce-b63d-bdceab916137 phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:2446b510-b2bd-44c6-85b4-18ce412f19e3 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:14531790 uuid:1bb84646-cf20-490d-b364-1868fac58926 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:fd98b396-8036-4e0b-b4aa-438f26ecce1a phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:fbb35a51-f051-4ac8-9c48-5c6bcf2bfa3e phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:383aab52-9f51-4230-8647-c53b08a84a2c phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:11d390fe-b7f5-4b56-b8a2-af137ab4d64c phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:1c97b236-2c78-46b8-affb-1bdbc4e89fff phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:19d72211-db95-4575-a9f7-caff96d9c439 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:b0cdc35a-c2f1-4100-944c-2ab3f51b18d4 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P27Y infores:phenopacket-store PMID:14531790 uuid:5245ff78-f3a7-4f15-945b-17c3606c4348 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:0ba2b3b2-08a1-487e-b365-584f9de7c896 phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29569962 uuid:3e504111-e23a-4532-9048-dec20d933f6e phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29569962 uuid:9c07ed7b-8853-4fb8-b84f-6519a03a28e3 phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:29569962 uuid:27724ee6-f850-48ce-94b6-1c51e2a42831 phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:29569962 uuid:6aa9e7b1-6ac3-4e68-97aa-151fcced150e phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29569962 uuid:b90fbc96-2b29-4f91-b4e0-0d70d1853db7 phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P14Y infores:phenopacket-store PMID:29569962 uuid:c53b24c5-c999-4f88-94e3-d1069980eb65 phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29569962 uuid:bd80856b-e427-4a74-851e-cb1b5de33bfb phenopacket.store:UMOD.PMID_14569098_F3_individual_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9Y infores:phenopacket-store PMID:14569098 uuid:db56dbbb-82ce-4166-b4df-e6e457d81d66 phenopacket.store:UMOD.PMID_14569098_F3_individual_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:36dcba8f-7eed-49b3-bf0c-c55754346af6 phenopacket.store:UMOD.PMID_14569098_F3_individual_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:39ac45d5-3056-44b7-9209-fe18c51ca071 phenopacket.store:UMOD.PMID_14569098_F3_individual_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:55988669-7d63-480e-b709-58252a7811a2 phenopacket.store:UMOD.PMID_14569098_F3_individual_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:857664b2-d972-4ad8-936d-b6fd5966c23d phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:14531790 uuid:e7f1d1b2-33cf-4559-9f12-eda6f10f0907 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:ca92b709-e23e-45b6-b616-80375b0be650 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:cf776338-9449-4406-b3c0-b04c5eecb5ba phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:3651b9ff-6e72-4b74-9bca-bd7b2c0c88f9 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:14531790 uuid:b5aec4f8-b7d7-4ea6-aea6-2a7323f23f89 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:28f0a9db-b1c8-405d-a46f-94eaf72a3eea phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:27764983 uuid:e8372b6a-3346-43dd-ae67-901646046fbc phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:27764983 uuid:1f331f7b-b7c8-4e2c-81b5-1acdfed48ae0 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P28Y infores:phenopacket-store PMID:27764983 uuid:c489cd53-4c81-406f-ba5d-a59da21037b0 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:c7a0bf36-c5e6-4b84-97d4-a0dbc3c9ecc4 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:80604f7c-ddb3-4ff7-8621-3ca8645e83ae phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P27Y infores:phenopacket-store PMID:27764983 uuid:cb3102ca-0064-4cf3-b653-b208adf235ca phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:1aeffe7f-0a7e-4a9f-9f2c-4c02d24408c9 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:15575003 uuid:398f94c6-3943-475f-9c61-92f478d600ed phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:15575003 uuid:9a681288-a027-4441-a697-cedc36eac141 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:15575003 uuid:24128140-3ea5-45c7-80b7-314aa9e960e4 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:15575003 uuid:3f8417b7-0d1a-40f1-a9ff-c1aaf2ca2d74 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15575003 uuid:ca39a93c-e8c4-4613-971f-f6fdf3cf53e8 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15575003 uuid:60671da7-350e-462c-9b65-1d6875e78ef2 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15575003 uuid:9809ee4d-f795-4df5-bb4a-f0fa1c328be8 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15575003 uuid:87af13fa-d557-45ca-a5ba-568e40fcf9f8 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15575003 uuid:97f5ca47-2bd4-4413-a514-648a8865d0e5 phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15575003 uuid:8aef3868-d306-4eba-aedd-c87d3ce5cff5 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:85803248-60d1-4b9e-aa90-4cd816686f08 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:2663f98f-fd9c-4658-aa6c-c51d55d08e8a phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:d8cd754d-94c1-4fcb-be98-d51f06cb804a phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:6cdbd0cc-6cfb-4760-b75d-7f757b0efe0c phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:7660aca8-e0d5-4f43-9bfd-3eaee0cab4f0 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:9b506bfa-b5f1-41d9-8d8c-c36b1f6c7dff phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:58968cc7-0667-4535-b62c-dff324a89b9a phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0011935 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:71513542-8163-4f01-9bcd-692687ed1006 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0001942 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:434ba8dc-511d-4f82-babf-fa43de1ba086 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:6dd384b8-d19d-44b5-9f77-5f20fd91b983 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:37487849 uuid:01653b62-7e88-4549-8996-54429e70bee7 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:37487849 uuid:2adc65f0-83a8-4b31-b650-2dee62542b95 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0000108 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37487849 uuid:e9d1eac4-0974-4086-afae-2e98497dcc22 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0000794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37487849 uuid:2b578a02-6a9f-4996-9ab1-7a6f5384b358 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37487849 uuid:b214cede-26e5-4405-a64a-85ef11c43248 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37487849 uuid:8c35a8f6-4f27-4b94-9b97-836df6b82244 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P3Y infores:phenopacket-store PMID:37487849 uuid:0f0d320e-fdb7-469f-b196-38a45cce7534 phenopacket.store:UMOD.PMID_37487849_patient biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37487849 uuid:7b1f8bb8-17e7-41e7-b305-303afac1bca7 phenopacket.store:UMOD.PMID_32274456_Family_FGCO_individual_1111 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P42Y infores:phenopacket-store PMID:32274456 uuid:e5e2cbc0-05fd-4168-a31b-3dba896cf4d3 phenopacket.store:UMOD.PMID_32274456_Family_FGCO_individual_1111 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:b814911c-5245-4b38-8382-b88982fbb8f1 phenopacket.store:UMOD.PMID_32274456_Family_FGCO_individual_1111 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:32274456 uuid:7e5aadd5-5211-488e-9f4b-00b4c063b64b phenopacket.store:UMOD.PMID_32274456_Family_FGCO_individual_1111 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:695eec92-cf84-4841-bb0a-d34e3b7ed837 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_32 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:32274456 uuid:f98f42f4-f59f-41bf-bba1-0c91572e529f phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_32 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:b1a27a3e-bc82-44f6-b09d-b5aecef39198 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_32 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:0d6892f2-151f-4dec-a396-120d539a44f5 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_32 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:32274456 uuid:7c285f94-b52f-4a64-8e94-e58d6c75f2e0 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_32 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:969b889a-f428-4af2-82c6-69af63ed3853 phenopacket.store:UMOD.PMID_14569098_F9_individual_8 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:14569098 uuid:8e9c6cb5-2800-4df3-aae0-d95e3198b894 phenopacket.store:UMOD.PMID_14569098_F9_individual_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:21b2d75b-439c-43c1-88fd-7b41d19ed070 phenopacket.store:UMOD.PMID_14569098_F9_individual_8 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:f4733c90-29e9-4c7d-a92b-bae1230370bf phenopacket.store:UMOD.PMID_14569098_F9_individual_8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:9cde64fb-9396-44e2-94a5-1390d70807c1 phenopacket.store:UMOD.PMID_14569098_F9_individual_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:99f8552c-e566-4223-b93c-6808af8c0ed2 phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:14569098 uuid:3e89486e-3041-468e-b620-d070c5ecf4f0 phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:14569098 uuid:d903e8bd-cf4b-4dab-b21d-a81e2fd7fc4c phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:7fc805f8-82a5-4b70-9314-89fb389f7884 phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:15bc76db-b8f2-4a8b-a0ef-6a573e4ed6b4 phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:891c27b6-3219-40bd-8169-a24064937477 phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:03422d13-58ed-4e5d-8f8b-006a981cd06d phenopacket.store:UMOD.PMID_14569098_F5_individual_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:14569098 uuid:b67b5e11-4b11-40af-98f5-2986779f506e phenopacket.store:UMOD.PMID_14569098_F5_individual_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:14569098 uuid:441737fd-fe13-47cf-9dab-3c5a987f4599 phenopacket.store:UMOD.PMID_14569098_F5_individual_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:fa63c985-947b-4b40-a713-bbe4eb9b7545 phenopacket.store:UMOD.PMID_14569098_F5_individual_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:3e70dce2-669b-4d61-8c0f-2547ea7e58b7 phenopacket.store:UMOD.PMID_14569098_F5_individual_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:3c58e461-1a75-437d-8146-8b276e322314 phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P36Y infores:phenopacket-store PMID:14569098 uuid:3c93cb67-1c52-4839-8e0f-24c0c5130abc phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:14569098 uuid:2432c244-8f55-4d45-a2fd-8cf60a336e84 phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:694c8100-3bed-4945-b72b-d14ced43107b phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:c2d81677-1893-4c52-94c8-27597175482b phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:fb68c8e1-2ef2-4af6-8507-9a8f030059b4 phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:70e3c729-819f-4a83-94a7-5d2d6f6e5532 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:33574344 uuid:b751edc3-14f6-402b-bb44-ed6dc5ac8d8b phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:3f6a7a72-950b-429d-bd7c-8d102a5b5bc2 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:5236278b-7176-4a32-bce3-0d557c3b4e94 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:fd729572-638b-41b0-bef1-6ad61cd71061 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:68939685-b83b-4e3e-a50f-c468102f3b10 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:bae68c0a-30d5-4fc8-b43c-98bace82c693 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:33574344 uuid:70cf4348-1e01-4d97-abea-35d78e65ffd0 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:524e9158-7cb5-4896-82b4-c71221e49e60 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:15983957 uuid:b90afbea-3a55-464d-a78e-aa771661444b phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:54e09f34-5177-4455-bb14-80120a5d043a phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:c6c4949d-fdde-47e3-b5fa-009b5a992b3f phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:ce3791a6-e8de-49bf-8ef2-75d166f46d2a phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:e57f76e6-24b7-441d-9dbd-d9f0e18159ec phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:e181c958-07cb-41a8-bad5-d533eca1cec6 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:aa0b75d9-7255-4619-a64b-a6dec665dd23 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:8046f045-196e-469b-bfc9-6350f4718b15 phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_111 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:32274456 uuid:1b8dd81e-227e-4dd6-9929-c17ee13addf4 phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_111 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:f2c5707e-4846-4827-baef-0e3bd6857bcb phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_111 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:b89791c1-aa99-42fc-b6fa-6b26f73968bb phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_111 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:37c1314d-87d1-488a-b965-5dc1df18c945 phenopacket.store:UMOD.PMID_22034507_CIV_4 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:1a4d70d0-66d6-4b8b-941a-ff512dc5ce63 phenopacket.store:UMOD.PMID_22034507_CIV_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:9fa134f5-8f33-4637-ae2d-46146d880cb8 phenopacket.store:UMOD.PMID_22034507_CIV_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:1b954fe4-d976-49ed-9051-3b29e734d358 phenopacket.store:UMOD.PMID_22034507_CIV_4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:22034507 uuid:ed599141-73b7-46da-b4f9-06c8396da0c6 phenopacket.store:UMOD.PMID_22034507_CIV_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:b460a0fa-03ef-43ef-b85b-763b4d733882 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:20151160 uuid:da24d1cf-0a14-44c8-990c-db1c9c4c7059 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:20151160 uuid:2ebd5adf-c102-4a77-ad99-3cee90ec09a7 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:20151160 uuid:d22487ff-ca91-4829-9475-b75255fc26e7 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20151160 uuid:7ff239ee-f3cc-4c14-8a9b-1a33621b0faa phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20151160 uuid:cdcaa589-e0e0-4a6c-bf64-65433afec776 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:e800b3d9-cd03-495c-a1d2-6f3f25f4c477 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:5605f19a-d887-401f-86ca-de16fda1d1a2 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:03cc256e-7be4-4068-8fca-c1504e8fb2fb phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P17Y infores:phenopacket-store PMID:20151160 uuid:96f41f93-5c4e-40e1-8e24-8c3898c99e34 phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20151160 uuid:3dcc6f26-2656-44ca-a575-8f520ed13b23 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:23988501 uuid:54e28942-2352-4807-9bd8-9904c3bb9efb phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_2 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:a9ef28a3-4e5a-44ce-8dd8-8467f28a0521 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:23988501 uuid:d439f6d2-7db2-4d79-92f2-3ab5031d394c phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:a895cdf3-9485-4dda-a774-be28aa0afdb8 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:12fcc23f-3ee8-4c74-a668-34f4b2ebaf15 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:e58d27c7-4a1d-4678-998b-712cf438bb62 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:44262c1e-53fa-4b64-9a34-4873b88c2091 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:ada17521-3d66-41cf-8e9a-1c756d5a2ae1 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:3db1cc9b-2eb9-40bb-98ad-019b6ea91fe3 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:7487b0aa-9a71-4af5-8993-62da1f85ea10 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:fcbddd97-4703-4c1b-aa28-230ba29226f7 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:7f84a629-5a2b-4509-92cc-c8e0d502ecb1 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:49bbc4c5-0588-4f2f-ae4a-2a56ca368094 phenopacket.store:UMOD.PMID_14569098_F1_individual_9 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:14569098 uuid:b5d24959-679f-41d9-a0f1-4145fe4cfff4 phenopacket.store:UMOD.PMID_14569098_F1_individual_9 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:33cef08a-0530-4fe0-af70-06f5f8c302d5 phenopacket.store:UMOD.PMID_14569098_F1_individual_9 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:77b3fec9-e3ba-460b-ae2d-43ea9ea5bd1d phenopacket.store:UMOD.PMID_14569098_F1_individual_9 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:44f658eb-fd49-4474-95cd-36862cbd221b phenopacket.store:UMOD.PMID_14569098_F1_individual_9 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:0a50e0d8-f16e-4b93-a174-8ef9600c8d44 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:29513881 uuid:5b5a42fe-1abd-4949-9c3f-8e672bb2abae phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:a477a899-7346-472a-b021-ab0f53b33c09 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:3dd89ff7-d226-4bb4-8abf-00b848753932 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:083415f3-f4de-44a1-854c-953b96ee4d95 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:6a66aff6-1ea9-4339-85ae-1ccc8a004bea phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:2cce631f-6b2c-43c8-b32a-597312d0f1ea phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:d8bc0b4d-acbb-485c-ae51-f23bcdce7be4 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:6346cadf-1207-4b67-93ab-db0111c29fb2 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:8a4d45ae-c630-4472-87bd-fc07f21b5b43 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:88c45c5d-cad5-4444-be48-91456ce82477 phenopacket.store:UMOD.PMID_22034507_BII_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:22034507 uuid:b70683f5-b214-4e72-8e2b-a21a2e275f00 phenopacket.store:UMOD.PMID_22034507_BII_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:c850c064-751a-4f36-86db-8c72785676ba phenopacket.store:UMOD.PMID_22034507_BII_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:22034507 uuid:7ebb11b7-8b10-4399-a8bd-4f038889c730 phenopacket.store:UMOD.PMID_22034507_BII_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:76ed3e31-fde3-4bca-9614-6b190f62beda phenopacket.store:UMOD.PMID_14569098_F8_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P59Y infores:phenopacket-store PMID:14569098 uuid:47502a4d-0086-44be-bf15-6bd2a8d70268 phenopacket.store:UMOD.PMID_14569098_F8_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:6655d1d8-6379-4f12-bf1e-02b3ccec3c3c phenopacket.store:UMOD.PMID_14569098_F8_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:e039cd81-7742-414b-9681-3b0f7abd5f08 phenopacket.store:UMOD.PMID_14569098_F8_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:c764298f-0cab-40ca-8408-a8f4e32bdf30 phenopacket.store:UMOD.PMID_14569098_F8_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:b28b5628-2d31-4a55-a579-ccb9eb6b5d47 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:33616882 uuid:174e3d8a-b2b1-4534-9b11-b40304699ab5 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:33616882 uuid:b6680af3-e666-455a-bd42-088320f73d92 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:33616882 uuid:c05a2b91-b959-4e31-b8ea-5a4330084929 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33616882 uuid:cd6fe411-ec81-425f-9cca-70e0901f5966 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33616882 uuid:f316fbcf-0831-402d-a181-5cf554f3ccb8 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33616882 uuid:b37d8c2e-2f69-43ab-8fb4-40e1c897cffa phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33616882 uuid:bdd46028-97ab-4416-96e9-56eb2b3365c9 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P4Y infores:phenopacket-store PMID:33616882 uuid:5a33ac4f-8e2c-4012-98d3-c3f3259baf4d phenopacket.store:UMOD.PMID_33616882_Case_report biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33616882 uuid:c8e42697-279c-4ccb-b420-cfdbd0780a8b phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:0f87159b-db41-46e9-8cf9-039d72159fb1 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:a6df9542-6954-4a3d-9c47-b41cc394ebc6 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:104a6e67-7af9-4c68-ab2a-60583fc12ef4 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:29111591-5342-4366-86dc-b7d30a6916b6 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:ed14808f-d247-4a3f-b0c5-dfc1d3891f66 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:58e48016-0485-4fae-8d74-f0347fe468ab phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:66f1bd2b-190e-4629-814c-616a445cb6cf phenopacket.store:UMOD.PMID_14569098_F6_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P64Y infores:phenopacket-store PMID:14569098 uuid:c340ecb9-53cd-40e2-be29-9f4220c47a2d phenopacket.store:UMOD.PMID_14569098_F6_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:14569098 uuid:3d0a8874-53d2-47a7-b67d-5dd69cd16372 phenopacket.store:UMOD.PMID_14569098_F6_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:93e7dc45-b0fc-4bb8-92ed-7d85655a1446 phenopacket.store:UMOD.PMID_14569098_F6_individual_1 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:30baab09-dfa0-4e68-aac9-a4a9c6f2497e phenopacket.store:UMOD.PMID_14569098_F6_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5651ea64-be8f-4d7a-8c64-64558c4f0b84 phenopacket.store:UMOD.PMID_14569098_F9_individual_6 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:14569098 uuid:bb428c46-6513-4dbd-bf98-3c99c2260bae phenopacket.store:UMOD.PMID_14569098_F9_individual_6 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:920120b0-dd52-4ba5-8478-30ea2fb80b66 phenopacket.store:UMOD.PMID_14569098_F9_individual_6 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:34a3f18b-798f-46c7-9947-7b18756841c9 phenopacket.store:UMOD.PMID_14569098_F9_individual_6 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:86f87070-8759-44e8-bee1-2e1bc94081e6 phenopacket.store:UMOD.PMID_14569098_F9_individual_6 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:74c44314-b308-45ac-bb42-50f6cae6bc31 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P48Y infores:phenopacket-store PMID:22034507 uuid:7a4e4e63-ea08-41bd-a6c1-418913b489a0 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:ab32ce86-b610-406e-b37b-3b733c00c9f1 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:59b61173-fdaa-4d89-a110-69e9c56401ae phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:f7b561e4-0dbe-48c8-a201-445d47c2c592 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:0f57b28f-6035-4dc9-8dfb-850fdb62e2fe phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:50c4ea82-3e5a-4998-a1f9-cd71ca871f15 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P43Y infores:phenopacket-store PMID:22034507 uuid:948d7d07-f81b-4a2a-af33-3186815985f2 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:334dc7f7-55d9-401e-8378-be45dda3fd1f phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_111 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:32274456 uuid:a1cb39ad-0b58-4fd9-b72b-e4b167d4d294 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_111 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:00c70ceb-b61b-456a-a5f6-05897dc5e5a3 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_111 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:63ab0294-ae7b-494f-807a-a34e9ec110c4 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_111 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:67302be2-88bc-4e79-aa9e-578b2ea17de4 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_111 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:e12e15b5-b403-4bcc-abab-19173152cad5 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:15983957 uuid:cf150908-afc3-45d3-a4c1-cdaad2a9d441 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:629268aa-63af-41fb-a3a9-12921f68e1c3 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:c1d06bf8-99d4-4aa5-a527-650b93d715cd phenopacket.store:UMOD.PMID_15983957_F2_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:4cf300a3-0c0c-4e5b-a0ef-cfb0b30498a8 phenopacket.store:UMOD.PMID_15983957_F2_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:b4548209-7b93-4918-a1eb-32f97769e9ac phenopacket.store:UMOD.PMID_14569098_F2_individual_5 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:14569098 uuid:aac86075-1454-4e0c-8162-53e5488042bf phenopacket.store:UMOD.PMID_14569098_F2_individual_5 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:14569098 uuid:b73afc2c-3995-4bb0-bb91-f4ca535216fe phenopacket.store:UMOD.PMID_14569098_F2_individual_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:f10a0b44-b527-420c-b994-fd9b2b50e74a phenopacket.store:UMOD.PMID_14569098_F2_individual_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:28f05e59-8839-4e80-b895-1624c35e0a36 phenopacket.store:UMOD.PMID_14569098_F2_individual_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:c12542db-c4db-4653-bee6-776f6ab13ed2 phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:33574344 uuid:a7ef1f4e-33ab-411f-b969-1b3efd10da8e phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:5e579e8b-7d01-4b02-a8a5-0325c4df3cc4 phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:fed5d493-0430-470d-b703-d1bcb1ba256a phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:b7899150-266c-4124-9b8c-e2eff6c7defd phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:b663829e-13e4-4aa1-824d-25babbb60822 phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P22Y infores:phenopacket-store PMID:33574344 uuid:9a929311-cf67-495f-8672-c3fb2447d311 phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:57ef964d-51a4-46c5-a157-24870824b995 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:23197950 uuid:ab7fdcb3-e7e3-4969-9ab1-eed4a4d1e0d8 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:23197950 uuid:c31df4b6-83bb-4379-9c2a-1bef7d0e3d31 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:23197950 uuid:50586fec-640b-4504-8781-a6022a968177 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:23197950 uuid:d678034b-15e3-4161-84fe-cabdf6a7f296 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:23197950 uuid:f9cc37af-a6d9-476a-9995-b0ad7106ede2 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:80a0101a-8b53-4723-b4f3-35ac45492a9f phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:46a02bf7-d19d-4fbc-a17a-98cd723f6279 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:bff88982-71c3-45a3-8500-b851643ee54c phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:74fe42c6-e4f0-42d9-a1ed-ef6948a6d4e3 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:0f73ea5e-48c1-4779-80b2-73c52e77a8dd phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:a6942b68-6ba4-4b36-9295-7e6092150ae0 phenopacket.store:UMOD.PMID_23197950_index biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:68c2f302-a06c-491e-b9b4-d46d16014190 phenopacket.store:UMOD.PMID_23197950_index biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:23197950 uuid:19f1a528-5015-40ab-b3bf-bb57cb2f9982 phenopacket.store:UMOD.PMID_23197950_index biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23197950 uuid:e31d13bc-7c9d-46cc-8aa8-0eb2b25df299 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_111 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:32274456 uuid:61490eda-54b8-4f84-86c1-2b19f777906d phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_111 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:311d79b8-a715-4655-b2ae-e5aa04977e97 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_111 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:52d314e0-5346-44f6-9255-42136925fd85 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_111 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P54Y infores:phenopacket-store PMID:32274456 uuid:eb9c05df-e982-4f75-910d-2f6382c7edfb phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_111 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:c2428b57-c165-4264-a393-311984b8ed63 phenopacket.store:UMOD.PMID_15983957_F1_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P70Y infores:phenopacket-store PMID:15983957 uuid:43c05ea7-d69b-4efe-a0b6-58f48a77b759 phenopacket.store:UMOD.PMID_15983957_F1_individual_I_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:44628e22-1f71-4c11-9fc0-33463e4ff03e phenopacket.store:UMOD.PMID_15983957_F1_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:3788ea21-163d-45bb-8d50-91cf1bc7bca3 phenopacket.store:UMOD.PMID_15983957_F1_individual_I_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:11786979-b63f-436d-a5a9-2f8a64347f73 phenopacket.store:UMOD.PMID_15983957_F1_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:cf4269fe-daa3-46a4-9c06-07f9ec216fe7 phenopacket.store:UMOD.PMID_14569098_F1_individual_10 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P22Y infores:phenopacket-store PMID:14569098 uuid:cf332a9c-58f9-4a0f-859b-16e5c9983e56 phenopacket.store:UMOD.PMID_14569098_F1_individual_10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:2b67e928-f1ff-427e-9ae2-d2308cd982f1 phenopacket.store:UMOD.PMID_14569098_F1_individual_10 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:9d5e21e0-fdc7-4cca-851e-001e689a952c phenopacket.store:UMOD.PMID_14569098_F1_individual_10 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:38e551d1-0c0f-4018-84bf-9372f851a624 phenopacket.store:UMOD.PMID_14569098_F1_individual_10 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:0d6ddd21-47f6-47af-ac02-771fa613a502 phenopacket.store:UMOD.PMID_14569098_F2_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:14569098 uuid:80a31a98-603c-4335-a91e-730646a6328d phenopacket.store:UMOD.PMID_14569098_F2_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:14569098 uuid:c01b6777-7294-4c56-81e2-fb586a399be4 phenopacket.store:UMOD.PMID_14569098_F2_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:4132a31e-10bd-430a-88db-be2f8ed44061 phenopacket.store:UMOD.PMID_14569098_F2_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:d18828f2-6f84-4926-98ea-e8195b1e22ba phenopacket.store:UMOD.PMID_14569098_F2_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:f4ee1bf3-334f-4588-ab40-3cc41fbf4193 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_3 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:32274456 uuid:273933b8-b0c6-41a7-aa73-f83d008a7cc4 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_3 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:b8b7065e-fae5-47fc-b777-f71aee107f44 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_3 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:b5b46591-419b-4695-a7e6-75bfe0b909e0 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_3 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:3321344e-9883-41da-b281-54750f847a21 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_3 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:f2dcc3bf-f9ac-4deb-8d40-db45f97b77bb phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:17245395 uuid:1f41efb3-120b-492a-aa79-38a9cf562a80 phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:3d51af74-3490-48de-a3c2-d050ea3a717e phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:5405f147-2d1d-4bb5-8b25-11b75f65d49f phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:0f1add0f-4bc9-4bd7-9f7d-c1c0b82fec0d phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:0dd1026c-9cc8-40aa-a99d-8b5a132989e1 phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:aae87bf1-3b48-4a0c-9ebd-734f6d2a1a32 phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:cd91937f-2fb7-403f-b567-66b9ccb0ff5c phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:b8b8307e-2fd4-4a37-9da0-59fb94fa1b4f phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:f7ae3966-a331-4881-a52f-0bbbba73a672 phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:3196fa89-8ae0-4e74-8f04-96d7332462ab phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:d1bc4a6f-77f3-4037-9d1d-7dcbc63ec7bf phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:c40fa68f-6da3-414f-bd3f-361db3c8430a phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:ffebc0ed-e8bf-4c04-ba63-58c510347bca phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:5a6c3be5-9265-420e-b70c-9840f27230ab phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:ab38af6b-b984-4e24-88b6-d7898d6108f7 phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:9450cc49-993d-466d-a58a-90b39fded24f phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P46Y infores:phenopacket-store PMID:17245395 uuid:5e4e456c-636c-412c-888e-188e2111766f phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:0f0bb092-73cf-48c2-b1a1-06e367ae7c99 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P56Y infores:phenopacket-store PMID:14531790 uuid:3bab092c-ea81-4586-9b88-5c84e0a6960a phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:e149f0b2-75d6-41a0-b4e8-bd919cb7fa43 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:156d730b-e7c4-4732-be69-acd47ec8939d phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:62d079d6-9ae1-4a0b-9725-3772a7a9a6d2 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:cf8dd8e9-a074-4d8a-a90e-b12c85b00940 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:e8ce3df3-3174-4248-859e-2e025a0db2d3 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:b60601e6-cdcc-445e-b596-658b138e015a phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_118 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:32274456 uuid:a5eabba4-a6ac-4ef5-8865-2e3a8180dcdd phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_118 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:401de7d8-7f68-41fc-abe8-8ec995cbc1ec phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_118 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:b45c8a1f-896f-48ac-8bf5-a1449f319778 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_118 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P34Y infores:phenopacket-store PMID:32274456 uuid:fd94e8d7-3182-41ae-a117-8208011bc713 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_118 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:b63e75da-d20f-482d-b540-367a9217a3c4 phenopacket.store:UMOD.PMID_14569098_F1_individual_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:14569098 uuid:8c027dc3-6f8f-46fb-9f02-808524fd6e28 phenopacket.store:UMOD.PMID_14569098_F1_individual_5 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P32Y infores:phenopacket-store PMID:14569098 uuid:9b9eca1d-42f3-48d0-9284-194e692cfe5f phenopacket.store:UMOD.PMID_14569098_F1_individual_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:c97410ab-4cbb-4c5b-84e9-b83be39b2133 phenopacket.store:UMOD.PMID_14569098_F1_individual_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:7b34df8f-fb7b-4103-a8dd-6f634144f347 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:33574344 uuid:602b7815-50d4-47fd-979c-e084390cc604 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:265dfee9-db86-4e31-9817-e8ebfd0b4171 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:5cb04dd5-6a6e-4818-9fe3-664187ff4727 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:3e5a0a98-6e7b-4bc9-836f-6bf31ba8a180 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:3edff20d-8860-4249-be64-0146269f329f phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:33574344 uuid:74a8393c-9c07-418d-b3db-56aa58f2aab9 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:b7cc1633-842c-413c-8897-af28a39353f9 phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:33574344 uuid:5765124f-c184-4ab0-be69-92bb08f070dd phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:dc17dc32-35fe-4350-b048-f58d2ba0741b phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33574344 uuid:6c43b005-ec10-4665-a866-76457619b587 phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33574344 uuid:174d23db-5ee1-4fa7-9ba9-6a7a6345cf21 phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P50Y infores:phenopacket-store PMID:33574344 uuid:5a7aa079-5823-4118-9a10-76e36b9a24f1 phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33574344 uuid:819cf346-41f6-471f-ac5f-91fed9b215b9 phenopacket.store:UMOD.PMID_32847529_Family_FGCO_individual_122 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:32847529 uuid:dc87e584-5d59-45e7-b790-130fac2b5490 phenopacket.store:UMOD.PMID_32847529_Family_FGCO_individual_122 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:32847529 uuid:aff069ec-eef9-42af-a03b-be6c0082159e phenopacket.store:UMOD.PMID_32847529_Family_FGCO_individual_122 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32847529 uuid:1de5c17c-5151-4acb-9c6b-f15d131c2bb5 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P60Y infores:phenopacket-store PMID:14531790 uuid:741ce95c-b75b-4bb9-99bc-1bef6a35cd01 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:4f47bb60-e502-490b-9aa3-f940092523b5 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_5 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:391a4b82-3ad1-4795-bca9-f839405bc871 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P59Y infores:phenopacket-store PMID:14531790 uuid:8b1ae14a-1ae2-4930-9bf4-5c648dc91b02 phenopacket.store:UMOD.PMID_14531790_F762_individual_III_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:eb12f98c-aefa-4ac7-844a-c0a56f7ed096 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27764983 uuid:43a2d25d-a3ac-4971-a8cb-2746c668f063 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P16Y infores:phenopacket-store PMID:27764983 uuid:332d6d66-9ac0-43f9-9e32-4a57a74d4176 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:c2a3e014-1417-4367-b61e-861158e47154 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:d99669c7-76c6-44b9-a65b-ca08d6cf0336 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:2a6d034c-b08d-4579-aa31-1177836d6a12 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:2f51f960-3336-47f3-ac99-70a1352554f8 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27764983 uuid:d89a0bc1-fab9-4fc1-a9a3-91e37d6f1506 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P16Y infores:phenopacket-store PMID:27764983 uuid:23cfcc2d-026d-4f31-9455-910731877dc3 phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27764983 uuid:ab520550-352a-4a8b-b026-e63e5e01f73b phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31068150 uuid:61a9b6cf-9b8c-4019-88ad-b622a674d79e phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31068150 uuid:fd70918d-1854-478d-ba57-d6e97567d50e phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31068150 uuid:700516ba-96b2-475d-99f6-bfebfea766d7 phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:31068150 uuid:fea62836-d8d0-4e48-ab11-b2cbc1e909cf phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31068150 uuid:0b9127b1-8c07-477d-8ecf-30aeebe504f9 phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31068150 uuid:503b5bcc-d864-477d-a689-60df64f29ab6 phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31068150 uuid:09961880-f680-4115-9173-d1f309e4a0ef phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31068150 uuid:c750c47d-ab6a-4633-b6d8-3696b0ad65c9 phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:31068150 uuid:558815ee-7102-43e7-9843-2879f4281c50 phenopacket.store:UMOD.PMID_31068150_index_patient biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31068150 uuid:b3295fc2-c0c4-4540-bc71-b6f63e7b141a phenopacket.store:UMOD.PMID_14569098_F4_individual_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P73Y infores:phenopacket-store PMID:14569098 uuid:db9ba242-a6d8-4375-b004-58fcb3cfd445 phenopacket.store:UMOD.PMID_14569098_F4_individual_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:f205e4c9-b454-43a5-a71a-de36f729abaf phenopacket.store:UMOD.PMID_14569098_F4_individual_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:68503dbd-a854-43d7-8792-d596963869cf phenopacket.store:UMOD.PMID_14569098_F4_individual_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:15e90415-09a2-4ae4-bd41-a5e6c5e9a088 phenopacket.store:UMOD.PMID_27729211_III_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P47Y infores:phenopacket-store PMID:27729211 uuid:89226fcf-a166-4f95-ba86-150421dceb2b phenopacket.store:UMOD.PMID_27729211_III_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27729211 uuid:c9955064-a40f-4294-af52-9fddb9473b99 phenopacket.store:UMOD.PMID_27729211_III_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:8e549880-65a9-4f7f-a8e2-54952935eafb phenopacket.store:UMOD.PMID_27729211_III_1 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:9c01f2c3-92c1-4d73-bc72-dd4347c4e778 phenopacket.store:UMOD.PMID_27729211_III_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:91e1f3b9-eb37-4d62-a3d6-0aedef47d126 phenopacket.store:UMOD.PMID_27729211_III_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:b2efaf40-6399-4967-869d-ec05705246ab phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_311 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P57Y infores:phenopacket-store PMID:32274456 uuid:e4244537-4bd7-4d0d-9233-b41312286e97 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_311 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:8d44d3df-0cc6-4eff-be28-5ec5a3daa74a phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_311 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:8eb70340-66de-48ce-a0ad-509cebb0e92d phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_311 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P57Y infores:phenopacket-store PMID:32274456 uuid:9a9d9fa5-1440-4a40-a720-2a107a68a1be phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_311 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:a2ccdadc-0c46-470a-942a-93d295cf9bb9 phenopacket.store:UMOD.PMID_28509303_father biolink:has_phenotype HP:0012626 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P84Y infores:phenopacket-store PMID:28509303 uuid:5a3a7130-2739-44dc-a525-68ca24c303c1 phenopacket.store:UMOD.PMID_28509303_father biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28509303 uuid:d0ea7cb0-984b-4ae8-9eb3-31c4f92986cc phenopacket.store:UMOD.PMID_28509303_father biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28509303 uuid:ef8e44f6-fd0e-4f35-beeb-863f90844c32 phenopacket.store:UMOD.PMID_28509303_father biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28509303 uuid:9708a9ad-9cca-4fe5-8072-5ae07d0c6686 phenopacket.store:UMOD.PMID_28509303_father biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28509303 uuid:5402075c-5ee6-49d5-b0a2-2156d69d3207 phenopacket.store:UMOD.PMID_28509303_father biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28509303 uuid:689d036e-d459-4331-bf1c-228f0e6d5ec7 phenopacket.store:UMOD.PMID_28509303_father biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28509303 uuid:1762af0d-56b1-41c1-904c-90735bfdaf78 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:15983957 uuid:71c2ee7d-5edd-4c8b-9249-1c12f275f132 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:71bfbde8-ad00-42f6-9240-846e058a2e0d phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:ea109617-3d75-4a56-9acd-e495b6e1b438 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:a3989bea-1b6c-4428-94a5-90920a3b33c3 phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:12bf6cd7-88bf-4b26-8637-1d672c2ccfbc phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:3c8c046d-340a-4f25-960a-94fa8c958e69 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_112 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P55Y infores:phenopacket-store PMID:32274456 uuid:d4c6e4b4-21d5-4e73-a194-7a3abcc73f4e phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_112 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:f08e41ef-5d11-49d5-a44d-ba5970b83ad0 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_112 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:5d2928e3-f32a-472c-9282-63f0d173f9b7 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_112 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P55Y infores:phenopacket-store PMID:32274456 uuid:fa72f2bb-85b5-42f7-8be1-1f06ebd341d6 phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_112 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:6c809938-dfa8-4c9c-a9d0-ecb5fb18814c phenopacket.store:UMOD.PMID_14569098_F4_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P72Y infores:phenopacket-store PMID:14569098 uuid:8dab375c-9e09-40cd-a9df-634d595b0024 phenopacket.store:UMOD.PMID_14569098_F4_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:300d4049-ef3f-487b-b21f-ae8fc96ba52e phenopacket.store:UMOD.PMID_14569098_F4_individual_1 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:026c711b-5c18-4251-819c-c219553ed942 phenopacket.store:UMOD.PMID_14569098_F4_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:15ee02e2-1b5e-46a9-b029-78e9cd0366d5 phenopacket.store:UMOD.PMID_14569098_F1_individual_8 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:14569098 uuid:080ce2b0-287f-4abb-a8c4-5469c4c717fc phenopacket.store:UMOD.PMID_14569098_F1_individual_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:ee7804ce-554d-467f-983a-65e4b93189b1 phenopacket.store:UMOD.PMID_14569098_F1_individual_8 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:88a0bed2-9236-4b81-a076-6d1670f12027 phenopacket.store:UMOD.PMID_14569098_F1_individual_8 biolink:has_disease OMIM:162002 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:894c6f39-4273-4aa9-abeb-5e4eb8b892e1 phenopacket.store:UMOD.PMID_14569098_F1_individual_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:5807fb3d-6a5b-4ab2-923c-30d1f43a5259 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:23988501 uuid:cb75f50e-ad7e-4cf3-a9f4-032970aac2e0 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:0b775e44-296c-4357-b591-9ff3e9e9eea4 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0001970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:a06de7bb-a87f-461a-8329-41101762a626 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:b51efad2-db32-448e-98a3-322874d8d3db phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:53fc0fb0-582e-4bfc-83c7-b6769c1d0922 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:5e2d916c-969e-4dd4-b1a6-1277f80ba22e phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:0d2ef252-09f3-4692-8691-6fe4a2e17d45 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:c90c3fc0-dba7-4508-841b-258d2dd3f0a7 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:23988501 uuid:911fb2ba-a59f-4d4e-ba52-39c9ca267b38 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:275e5b36-6307-47f8-bbb7-555ad3689815 phenopacket.store:UMOD.PMID_15673476_son biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:15673476 uuid:b90d95ed-560f-4681-aa2e-c9c95494c155 phenopacket.store:UMOD.PMID_15673476_son biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:15673476 uuid:a8b2aa91-6b2a-4efe-aa0f-c0566f5e5d70 phenopacket.store:UMOD.PMID_15673476_son biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:15673476 uuid:ef70bf8a-3b74-446f-a963-43444fbce423 phenopacket.store:UMOD.PMID_15673476_son biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:15673476 uuid:899fb29f-442f-42b5-bf54-033f1a746578 phenopacket.store:UMOD.PMID_15673476_son biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:15673476 uuid:c9a3b993-6437-4999-8da4-58f473e1d8de phenopacket.store:UMOD.PMID_15673476_son biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15673476 uuid:aa77a32e-6225-40ff-b935-c18aac4166d6 phenopacket.store:UMOD.PMID_15673476_son biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:15673476 uuid:7ff8d713-3342-4afb-85e6-c889d6fec94e phenopacket.store:UMOD.PMID_15673476_son biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15673476 uuid:dff3ba67-7370-4e88-9939-c1be6b22b82c phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:14531790 uuid:4e795f70-4152-461e-bec8-c74dbe1d0299 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:ddb0e7a8-e28d-4167-b48d-3bfc728db995 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:7fb4e56c-5c23-4e97-920b-47fd8c9870dd phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:33a8a18c-e313-41d2-aba9-e75ca3560d8c phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:50352868-b024-4676-9148-47b0bfcb294c phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:85f53463-3dfa-4ff1-97de-672904bf6604 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:df8962ac-f00f-4b63-98a8-6d9ccb2effb5 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:77bd6dd6-fe3b-45a6-93f5-0512bda3630c phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:00f0257c-8d94-47b5-a65a-cc77e7c0f03b phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:d65c6e90-cefe-4abd-8f8f-192c8bdd6638 phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation P29Y infores:phenopacket-store PMID:14531790 uuid:379e2d61-2f5f-468d-b156-2dc8ad52e5fa phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:260a4fe5-475f-47a6-9096-e9a7a07b0ce5 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:23988501 uuid:6f499dba-e9a8-4a3f-8b50-d06f74650a54 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:1b2b0e98-f3fd-43b6-8138-6742884bf89c phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:7c025d65-68dc-45ca-8809-38dd65338ef8 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:94d477e9-cc82-4be7-a613-c074671714e6 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:1910c45b-dee7-451c-8b71-bfe8633f9737 phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:23988501 uuid:ba371a35-0590-4b22-a8b5-758a379cc67e phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:9316f7bc-1a77-482d-bafc-be42a346b4ee phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P24Y infores:phenopacket-store PMID:23988501 uuid:e6e4639f-19c1-466c-b717-f9904742242f phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:08b01e38-3b92-45eb-86dd-ea69230e9901 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:23988501 uuid:e16a073f-6e80-46d8-a5ef-cd950e8cba47 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23988501 uuid:7499e15b-270d-415a-b579-412113a9b25c phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P12Y infores:phenopacket-store PMID:23988501 uuid:349c795f-21a3-4742-8796-4e7b027729b5 phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23988501 uuid:97506f25-47d4-40e4-a57c-7925c1868ff5 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:32274456 uuid:64c07020-d802-4e30-888d-338911deb877 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:32274456 uuid:a06870cd-11a7-434c-b388-e7159844a998 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:b2a5be9f-dcba-4ac6-ab78-28c6f2f3bc7a phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:32274456 uuid:8f5a1bab-b488-40fd-a10b-1df026eb9850 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P38Y infores:phenopacket-store PMID:32274456 uuid:b1c918a6-6b32-467f-b590-5eb82fbfe807 phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:32274456 uuid:b8260d91-ef43-4314-bd6c-95e68b7b7b1f phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P38Y infores:phenopacket-store PMID:14569098 uuid:658ebaf5-9f98-457f-994a-99069ad72cbd phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14569098 uuid:96167342-f717-408f-a8a0-1cfab85ec583 phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:feee79f7-4f35-4e39-935c-9be7c294e2d2 phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14569098 uuid:3075f39a-871f-4e2b-a470-0d2077df9f36 phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:ef514afd-c7c4-43c0-ab2a-4534c9d96ca0 phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:d3fe1ccd-51c4-45eb-a32e-c893a4aeb778 phenopacket.store:UMOD.PMID_23197950_brother biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:23197950 uuid:3816e46c-49a8-40ea-961e-2235aa6b15de phenopacket.store:UMOD.PMID_23197950_brother biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:23197950 uuid:7e51fd60-97af-452c-bcea-34372d7ced04 phenopacket.store:UMOD.PMID_23197950_brother biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P21Y infores:phenopacket-store PMID:23197950 uuid:e24416e5-7b51-4ad3-a42a-3ee41fb30563 phenopacket.store:UMOD.PMID_23197950_brother biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:26858d04-fb61-46a0-8b7b-dc3cd371d9ec phenopacket.store:UMOD.PMID_23197950_brother biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:23197950 uuid:9692d1a6-1d8c-4fb5-83f6-4ff421847979 phenopacket.store:UMOD.PMID_23197950_brother biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P21Y infores:phenopacket-store PMID:23197950 uuid:f6857dd4-62bb-4e19-adc9-e4f8be041d72 phenopacket.store:UMOD.PMID_23197950_brother biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:23197950 uuid:15679668-8379-4409-b69e-92001ee5c19d phenopacket.store:UMOD.PMID_22034507_DIV_2 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:d8de23b3-c7f3-46f1-b2e1-0034c0d52e27 phenopacket.store:UMOD.PMID_22034507_DIV_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:22034507 uuid:83398600-c98b-45de-b1c6-59774a66be15 phenopacket.store:UMOD.PMID_22034507_DIV_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:22034507 uuid:feb01f7c-3e77-4393-81da-dbe001a9c8d8 phenopacket.store:UMOD.PMID_22034507_DIV_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:35e27f3b-c373-40fc-b992-5b86bbf9fbd2 phenopacket.store:UMOD.PMID_22034507_DIV_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:22034507 uuid:2a030149-4fa3-4716-b7e8-a65c19f0969c phenopacket.store:UMOD.PMID_14569098_F10_individual_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:14569098 uuid:fc018faf-c011-4c9a-bdab-cced8f675c29 phenopacket.store:UMOD.PMID_14569098_F10_individual_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:14569098 uuid:bdc2599c-72f6-4e79-8862-44d3eeb9fef3 phenopacket.store:UMOD.PMID_14569098_F10_individual_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:3318d4ab-3b84-4c18-9aa3-03e7ae1a3863 phenopacket.store:UMOD.PMID_14569098_F10_individual_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14569098 uuid:70c32b7d-045d-409f-8780-558078715d2c phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0012622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P18Y infores:phenopacket-store PMID:14531790 uuid:788e1f11-f63f-4266-af3b-354cdc0c0166 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:274a8652-0ca5-43fb-8992-8778dc78a7e5 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:ea9c52bb-02c3-42df-a254-17df89a8b3c1 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:25b414e7-10ee-45d8-8307-eaa0ef242fd4 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:a01524d2-f4a3-4536-b8b8-614b07e511d3 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:579b74de-838c-40a9-bb71-2e32dfd7ed3d phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:73542031-71b1-4c2f-b921-9382651771f1 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:9f3151d9-ce6f-42d7-b741-91e30e9cb9e1 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:f8f0e137-36e1-4065-8548-4e15e4f0e6e8 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:835af896-2663-43ea-ac83-7f0f592fec3f phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P18Y infores:phenopacket-store PMID:14531790 uuid:610513bb-64a2-4712-b7c9-000eceef5752 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:5905fef5-6275-4cff-ac82-0245e2e755e4 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:0b910983-13d6-46c9-8fc5-939312f95652 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:0fea9ed3-3f83-4d32-af11-e991b01f846a phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:dfd55935-c3be-408e-b7d1-4ff116a1a3e4 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:55663bf3-a351-48ac-a182-6b4e35b84f4a phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:8182fab5-273d-4f9d-a8c3-5887d2abef48 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:64b1294b-397f-49be-b33e-c2fc4ab026b1 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0003165 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:ac2e221b-48e9-4852-b323-07ca22fc0706 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:f58717aa-1abf-456d-973f-8695cd6595a5 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:d6c67043-4009-4a6f-a93d-7b1b7c402f02 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11Y infores:phenopacket-store PMID:18950917 uuid:d74ae732-a110-4874-bc0c-ee5d91ec2537 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18950917 uuid:64372907-2507-407b-a8ea-a8e4a622a21b phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18950917 uuid:396679af-3dfd-4842-8e0b-c07a9406fd37 phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18950917 uuid:cac10be7-c693-48c4-8af6-fbfbf2bc9d2e phenopacket.store:UMOD.PMID_18950917_boy biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:18950917 uuid:f9fb4a55-48e0-4a62-8f83-94f96e9d98cb phenopacket.store:UMOD.PMID_18950917_boy biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation P11Y infores:phenopacket-store PMID:18950917 uuid:d8ef799c-e893-4b0d-b527-92ea582bec6b phenopacket.store:UMOD.PMID_18950917_boy biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:18950917 uuid:b21b4c1b-c0c7-49eb-98ed-ec0d84ffec20 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P34Y infores:phenopacket-store PMID:15983957 uuid:7b03904b-7df7-48b8-9692-1aa1546cd892 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:15983957 uuid:72a8700f-3d34-47ec-861e-55a69bb1e788 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:d933a191-d357-460b-8e15-059c4beee425 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:172519b7-700f-4757-9c84-bb41650537d3 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:8e8d7901-2bdf-4ea6-b1f2-0b7d54098155 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:8d7edb1d-f792-4546-be9f-942d7e663e53 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:adc97755-076d-4bef-9d8a-f7b758be1b80 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:5d3c8c91-99e0-483b-81ac-582d8365642b phenopacket.store:UMOD.PMID_27729211_III_7 biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27729211 uuid:cdfe2339-9a77-4a7b-800d-3a648432b810 phenopacket.store:UMOD.PMID_27729211_III_7 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27729211 uuid:f8359614-4e57-405e-8391-66d2f030d712 phenopacket.store:UMOD.PMID_27729211_III_7 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:368e9f90-4bb9-4334-9e0a-4cd0147a9fde phenopacket.store:UMOD.PMID_27729211_III_7 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27729211 uuid:2069a5ac-975b-49c7-97b1-e2128653fd6e phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P29Y infores:phenopacket-store PMID:15983957 uuid:6cb69d6d-7d4b-43ce-a55d-02f481045f94 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P27Y infores:phenopacket-store PMID:15983957 uuid:796c0ba5-bfb6-4665-973e-158414c09ea3 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:bee7809f-12a6-403a-8a18-fa9c80b9c330 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:0d1a3758-a69c-49fc-9b51-36bcfd90a75c phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:35f97dcb-2236-4fa1-8e92-c709ad1fd745 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:aed12527-3476-4958-aba2-af44067a3399 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:14cd7f33-d540-46ee-91f6-b5eefe03d374 phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:893bcf44-1c89-41b8-9bf7-82309c710537 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_phenotype HP:0012623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:15983957 uuid:5a2f0cbc-3682-4bab-9d2b-702612a81b2e phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:f8805c20-0165-46d6-8dd7-b7edba10f20f phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:d2241815-0ea5-4dcd-b81f-f9bee32be83e phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:b1089ae5-c35b-4a90-85c5-2358d39ff038 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:f725fd38-3737-48e0-98fd-39f6a7b736e3 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15983957 uuid:d46ce714-8bff-4d51-978f-156e00bab4a6 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:7fbe2915-e326-4162-86ff-f85b17becbf4 phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15983957 uuid:77fb9948-69ff-441f-9028-46f20f6b9d08 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P52Y infores:phenopacket-store PMID:14531790 uuid:26336880-23a8-4be8-a108-12bf01e6c56d phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0004722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:3cf9c95a-7926-46bc-b6d2-7abf7c9dea75 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0000092 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:b5a1fd05-ad1c-453d-86db-7409ce746b57 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0032948 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:f1781d9e-808b-4a26-b268-22d28fc6cf2e phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:14531790 uuid:50e0a5a2-644b-419c-bf53-785f894dd29e phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:ee2bd565-aaf8-443f-a493-6ba375f8a102 phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:14531790 uuid:9ead20ae-79a6-4102-97f3-762b176a657f phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P49Y infores:phenopacket-store PMID:14531790 uuid:c0df9407-44fa-4172-b136-706f9ebee7cf phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:14531790 uuid:80ee7d78-3e3d-49ae-825a-9494cc7db03d phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P63Y infores:phenopacket-store PMID:29513881 uuid:7494c2c9-3a65-42d0-9cfe-f3c9f59755fc phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:5e9397a5-ed60-4b48-8278-051902df93f2 phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29513881 uuid:81c1a338-24b4-4738-be2a-9f74b6c41b50 phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:623b3754-550d-47c9-9908-4130f0cd9d9e phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:b4362ea4-7920-4f03-8206-9c6f482c0f71 phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:2493e34f-c170-495e-a74f-f9b51d2beb24 phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0000790 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:363bbfa4-a252-4438-a170-637ffe9c8765 phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29513881 uuid:a4403761-2ccd-4881-a46c-97dd8fbf591f phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:412e6e7e-5c6d-45bb-af15-f8ebdf984619 phenopacket.store:UMOD.PMID_29513881_III_9 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29513881 uuid:466f66d6-e184-45c6-919e-e8d92c567338 phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:15844001 uuid:fa681510-c256-4e82-a4af-561df3b7e1ad phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0012625 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:15844001 uuid:4f6718ff-7f1c-4718-8641-7375f28d00bc phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0000096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:15844001 uuid:8b32dc6d-ce16-4e25-8235-c315fce33509 phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:15844001 uuid:461927f0-933c-4770-9792-17f62af2fe5d phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0003138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y6M infores:phenopacket-store PMID:15844001 uuid:5cfe98a3-9e96-4e8c-867d-1597d6891bd2 phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19Y infores:phenopacket-store PMID:15844001 uuid:11cbb985-3a28-4f32-900a-e804015a306b phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15844001 uuid:93065cff-62d6-4b78-be5a-d1e495cb1da0 phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15844001 uuid:78701f0a-f240-4e08-9d4b-96a27804b396 phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15844001 uuid:7b01eded-47d1-4515-a320-b712d5ef3d2e phenopacket.store:UMOD.PMID_15844001_child biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:15844001 uuid:3fb24550-ec2d-439e-bf66-9656a65949e2 phenopacket.store:UMOD.PMID_15844001_child biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P7Y6M infores:phenopacket-store PMID:15844001 uuid:33fba11d-31e4-4983-b8b4-21dc3e49a55d phenopacket.store:UMOD.PMID_15844001_child biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:15844001 uuid:f7bfd2d8-4a18-4ef4-ab55-be761a600ee3 phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:17245395 uuid:fce5dee1-5d9d-434e-92bc-47bb810d3103 phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:e229d9e4-2894-4edf-a2af-0074f7901c3d phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:e7b12af5-8dd3-4a96-aeee-330b8e82da8f phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17245395 uuid:43092226-40e2-4d74-bb64-d6f7d9c327ad phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:132e8f6f-ccd5-43c8-8b1f-7af892fe662a phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:3760f72a-ae04-44dd-8dce-c91cd4e220bb phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:0163867f-80fd-4826-8fcf-b1dd43067bbc phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:2f1f3c70-d656-414b-93f0-5b4f38bccc60 phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0003158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:67fd82f5-4ad2-43ed-9c76-9fd36fa571c8 phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17245395 uuid:6f193a90-5ff3-4598-8d83-6d4f5feb107c phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_disease OMIM:162001 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:17245395 uuid:5ce1fc30-ab56-4317-935c-2fa36517ba22 phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17245395 uuid:73d97cae-d949-45bd-9bff-f0f3be714ff0 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0003259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:20151160 uuid:f8816954-a7d8-4567-96ab-57f44b80c482 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0012624 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:20151160 uuid:028a21eb-a9ca-48be-b59a-f60bbe827b2b phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0002149 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P5Y infores:phenopacket-store PMID:20151160 uuid:a982d9da-d1fa-4687-a240-23a37ac4bb0f phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0000093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:20151160 uuid:bf187bfc-74ff-41b1-86f0-a54c01b4eeb1 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0003774 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:fd11bd8f-d39d-40e0-b583-cb36b7680ff5 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:11e2d6d9-53b5-4d43-bba5-219c2baff73e phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0005565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:21035ee1-afdf-4087-8cef-1a02bc8f5cd9 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0004719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:7be420e9-cfc2-4bfe-a60e-c36d4a8d0fb7 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0000089 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:65f4a0b7-d197-4dac-803c-0979aabca757 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_phenotype HP:0001997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:20151160 uuid:9e179afb-4705-4559-8cc1-5d468ea97616 phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_disease OMIM:162000 biolink:CaseToDiseaseAssociation manual_agent observation P5Y infores:phenopacket-store PMID:20151160 uuid:81e24c47-3695-43ac-b05f-d8c1f3dc00fc phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:has_gene HGNC:12559 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:20151160 uuid:49eedf0c-e1f6-4a6c-8ce7-bde0687a62e3 phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_phenotype HP:0002110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27247962 uuid:5050e99f-ac51-41c3-979c-c5a3d9ceb45e phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_phenotype HP:0006530 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27247962 uuid:3eee4e02-4ecd-463b-896c-6b369ff52e79 phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27247962 uuid:fa6dc237-47ea-490d-b312-4531840d1f9a phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_phenotype HP:0001029 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27247962 uuid:77a33c04-5257-48e6-9e78-c9b251cd91c2 phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27247962 uuid:082721c2-d68c-48c9-a242-35e5c0d7f51b phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:27247962 uuid:a47d9022-b72a-4810-9c3b-d8230a3d599a phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_disease OMIM:604173 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:27247962 uuid:a67e44ea-2aa7-4cd9-b590-7e11582d8926 phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:has_gene HGNC:25792 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27247962 uuid:6f1b4429-59b2-4d8e-a22a-31575b352647 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:424b3227-6ee1-41fb-9567-41e19e5caf96 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0003691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:69210cce-e210-4bab-9915-697ab0d89243 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0002515 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:9f28c197-d8aa-4c7c-9e41-fdd13ba259a1 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0007126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:4a1970b3-7aa4-4747-ac14-bc3ac50c606c phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0034159 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:61b7ab8b-b166-43cc-897f-604c6e94a2f7 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0100295 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:ddf9f8a0-f171-4163-af30-53209d54bd0a phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0034045 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:e2377c41-0865-4256-8c59-654557d28bc2 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0100299 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:3c6ec01f-e1d4-4cfa-9e38-ebb417bd75c5 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:3b65f7e9-b2fb-4349-983d-6e007dc7fbc2 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:e44f63bd-f45c-403d-be72-da84e4f4dd05 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0010639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P44Y infores:phenopacket-store PMID:19208399 uuid:376bd6a0-433b-45f4-a32b-07d99e91619f phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0008997 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P41Y infores:phenopacket-store PMID:19208399 uuid:486267fa-0cad-4130-b0e3-655280740d01 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_phenotype HP:0003805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:19208399 uuid:68437265-b194-40cd-83aa-42f5bb43d00b phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_disease OMIM:167320 biolink:CaseToDiseaseAssociation manual_agent observation P41Y infores:phenopacket-store PMID:19208399 uuid:b5f97a2b-62cd-4a54-b3f1-2b14538cabb8 phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:has_gene HGNC:12666 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:19208399 uuid:2f46d4cb-4c86-49ce-8deb-60056974c8ca phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P30Y infores:phenopacket-store PMID:28446873 uuid:a3301578-6643-4f40-a9b2-112fcee8fc78 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:c342d592-d443-4e04-ac62-f7366dbafea4 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:876cea42-8f3a-4455-99d3-83a83c782622 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:bff19328-ddb9-4155-b995-2105f0460252 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0002340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:ed056da0-2c35-4b91-98e3-b413047dc468 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:98045e71-0cf9-4105-80fb-a7c74f0dab8a phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:1149cb58-63f6-48ec-a842-0273cde6e554 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:49813760-969f-42cb-9c2d-96e1e1fd5db8 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:7700c80c-f0ee-4caf-bb28-66bb3e45a0b0 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0025435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:6430c530-41d5-4fff-b4c6-a41cff013165 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P37Y infores:phenopacket-store PMID:28446873 uuid:698b49e9-5558-42c6-8c0c-94d58f898526 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:866bc6df-07ae-4e08-a735-ea868d776ef5 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:789d20b8-c742-47a2-896f-6e0ed25f4322 phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_disease OMIM:200150 biolink:CaseToDiseaseAssociation manual_agent observation P37Y infores:phenopacket-store PMID:28446873 uuid:aa84af71-1186-41f3-accb-7e10a38a3a7e phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:has_gene HGNC:1908 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28446873 uuid:986da4ef-1397-4b08-827e-b8f1cb3fa257 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:1dfbd5d3-3a28-4cb5-971c-4af9f8b78a27 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:fb08b1b1-5559-4c69-a5f9-d487292b2634 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:ed0740c4-381e-49b2-bb46-434ef151526f phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:a5044502-8b3a-4f49-9080-e2d1a88e083c phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0008767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:da30648a-be5b-4731-8646-1585b375e3aa phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0002340 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:f3e4b547-ec54-4add-9020-9cafc41c4082 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0006956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:5e7c67eb-0be1-49cd-aa13-7bcdbed1b276 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:6c2196c4-1fca-438a-b657-bd85c7e3f4df phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:49d69dc0-04db-4ad9-b1a5-d25682ff6fd0 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0002310 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:61861d62-1e7f-4801-9f64-6be1a8e714b3 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0002072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:9e9eec9c-6291-4820-a5b7-1f3c59be2194 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0003477 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:814c6ad6-d8b3-4e11-a4d5-482eb0b74607 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:26ba7f93-394d-4273-816f-12cb83eee8e6 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0001927 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P45Y infores:phenopacket-store PMID:28446873 uuid:68b12e28-9028-49be-b2bd-03ff28084f50 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:ed904d53-1113-456f-a9e5-6b54557b3f85 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0001284 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:2ec358bd-f4e4-49d8-bdec-d6e8ccd47894 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:800751b0-e7bf-48cb-a335-07952cd6e16f phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0025435 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:97e59c9c-6b3d-4dc6-87b2-0c7160b93364 phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28446873 uuid:cada189a-f0fe-4d8e-a8ef-670826fb8adc phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_disease OMIM:200150 biolink:CaseToDiseaseAssociation manual_agent observation P45Y infores:phenopacket-store PMID:28446873 uuid:0a2b3dab-7e77-43f7-b920-344748ea1b1e phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:has_gene HGNC:1908 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28446873 uuid:f585ea0e-071c-488b-b066-a1efab077ee2 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:e0032de1-3c4b-4ebe-beaf-fcc963cb53d3 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:3ace4ad7-613f-4f45-b853-2bbdfd749deb phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:ec8069c9-047c-44d2-a981-63a76e73a243 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:839b1417-a741-4440-8c90-dd44e4325fbe phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:2fff0da7-f0d9-4690-9154-b74888885502 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:349e735b-510e-4271-b023-22a6cde4ce11 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:6d795d76-86bf-4043-9cd2-55bb50d7d08a phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:dcc64d70-8f02-4ba4-ace4-bacbdabf1a71 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0001786 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:b97cfb33-772a-4872-a175-5087d9357d92 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0004283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:7832af2e-7c71-4c74-926c-3cf321117337 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:a44939df-1381-46c7-a310-14a2cbbc8edc phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:29149870 uuid:47f83b34-c2de-47cd-8c9c-b353b725af62 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29149870 uuid:31cc4282-99a6-452a-b575-7b5d8b7bd2af phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29149870 uuid:85744344-e929-4c5e-af32-0f456fde7f25 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_disease OMIM:216550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29149870 uuid:2db09ea9-7af0-4a22-93b4-5bdda00cd0e7 phenopacket.store:VPS13B.PMID_29149870_brother biolink:has_gene HGNC:2183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29149870 uuid:f5a6c779-f5c9-49af-859b-e3e0b8393528 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001956 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:9cd4fff9-a413-4e4f-8951-45856334257e phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:b726ab47-2d9b-4800-8b72-3774aefb4917 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:3af6e3f9-bfb7-4c70-98b3-afea486d8beb phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:4242b733-5fa7-4aa7-9327-57f432cf9ab1 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:507e4b45-8b3f-4983-800b-53fe6715fc4c phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:5704c5cb-2987-4020-a634-da0f1b6f07ce phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:cbd6745e-c4c8-4cff-b9b7-bdc2a7e881e4 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:d5a11691-992c-418c-b2f4-1b0f76d75823 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:553939eb-3e94-45e8-a365-11b3bd51507f phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:2c6806e6-145e-416d-acb8-b92786b65d79 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0007074 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:2b02a7d8-72f4-4947-a4ed-4a9a8a97b649 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0004283 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:c8552743-3808-4e6d-af54-bd43e19f2b9f phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:6a3d887b-2581-4045-8cd7-dbe3847560e0 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001875 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:29149870 uuid:27502f03-9c82-4c66-874d-c912c799a569 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29149870 uuid:b80e25b9-a0bb-43b4-afcd-a41063c9d624 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29149870 uuid:10ea4aa3-e8c3-40b4-8f1e-accb263f17a3 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0000580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P3Y infores:phenopacket-store PMID:29149870 uuid:da094993-3be0-4af6-a00f-d84ee13182ef phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29149870 uuid:1fd3a747-5e8e-4bd9-8afe-c9a91ea6ab2d phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29149870 uuid:1016e3f4-5594-4340-a277-7167bea9dbdb phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29149870 uuid:727f58a9-3b46-4573-9d17-14976f946317 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_disease OMIM:216550 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29149870 uuid:a2cdcbf6-7889-4fe3-a5c9-54d44c0ad1a8 phenopacket.store:VPS13B.PMID_29149870_proposita biolink:has_gene HGNC:2183 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29149870 uuid:6cf4bef3-8673-4c4d-9288-829b18a44a78 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:26942284 uuid:301bbc64-701d-458a-a04e-4b2a6512a6b9 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:26942284 uuid:2b481dac-63d6-4516-94b7-7fdd0d58ce74 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P25Y infores:phenopacket-store PMID:26942284 uuid:9b35ea7c-ada6-41f9-91d1-2a201fbb9712 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P31Y infores:phenopacket-store PMID:26942284 uuid:eea67e35-eb9b-4a47-9ff9-1c3f6cd982a4 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:fa600b19-00d7-4f9a-9451-ade56b504b13 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:097cc682-a6ca-47e5-9dc0-2920c7c04b1e phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:bda14d0c-2332-4bdd-a50a-8b384430bf80 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:b5a60b30-fb92-4a93-aa3e-ec4967b66e0c phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:52a89442-72ad-4f8d-8b95-e5f7de50e2d0 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:39cf663c-5fc2-46a4-9485-259325fb6651 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:54f933f2-c7d5-49cd-81e2-892fffb00851 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:4ba6c7e7-9fc1-4c0e-8335-d357c17f7c26 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:77a65050-cbf9-4108-b2d5-bf6c04f089c1 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:e8e3b3b0-e3c9-486e-8fb2-9f397c7d98f2 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0031825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:8a104c48-bf7a-431b-bb0b-c1256f03cb11 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:f69abf71-e434-496f-87d8-b09de0277b60 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:cee74e1a-81a0-4380-b5be-d2a52c1d21b2 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0001289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:dd857420-9cc6-4a55-923c-3e75650b2223 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0004326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:40d18fb5-377d-4065-8ee7-dc1010b6b3dc phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:687059cf-fb13-4198-8ff0-56b3b935e681 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:48a8a0a8-30ee-438e-815e-75bee633244b phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_disease OMIM:616840 biolink:CaseToDiseaseAssociation manual_agent observation P25Y infores:phenopacket-store PMID:26942284 uuid:bd7a6c78-e1dc-4b61-852c-a72f2e56f830 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:has_gene HGNC:23594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942284 uuid:13cf32d7-b418-44ea-810a-a88540733aff phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:26942284 uuid:f77ba91c-12c0-4385-aad3-6df517a90023 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0001350 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:26942284 uuid:194bcf58-11ba-4d7e-a5bf-97b847e0f31b phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:26942284 uuid:d994e308-3ffd-4b1f-a1b9-7782817a2383 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:26942284 uuid:c1e86c90-aecd-40cb-a849-abe7ea02a3bd phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:caea0d84-4658-4a6e-951b-25e6a3a055f7 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26942284 uuid:66f58ce3-b084-472f-9e6f-be48d11b3d25 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0031825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26942284 uuid:39b10571-6be9-4f14-8ea5-75cba791cab5 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P54Y infores:phenopacket-store PMID:26942284 uuid:33d6e1d6-c368-47fe-b7fd-2b831c292fbe phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26942284 uuid:d457fc55-bb8a-476b-b5d8-2a49cd572d88 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0001289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26942284 uuid:076f3bac-9185-432d-9d47-6a2591bb0d79 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0004326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26942284 uuid:96a89a8c-3718-4c98-84a9-8b50df119ba8 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26942284 uuid:505bb6ed-1302-4dc2-939d-ac02c7f7da24 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P58Y infores:phenopacket-store PMID:26942284 uuid:8dff0c0b-dd12-44a2-9ff0-68553b079122 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:11ccbf12-dbd5-4055-877a-016fd2541b2c phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:106123ea-84db-4251-a8ca-9a1ca65f5bea phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:c33adf35-901b-4c8b-88d6-32e011a35b69 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:ff36eee0-772b-4c06-a6c4-6673737cb9bd phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:946231ed-e481-4572-9a2b-fd40c7bddbb9 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:974d00d2-36c6-41ab-89ea-bd92c54c58a8 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:c1c756bc-0f48-4668-94ea-0cb0b7251583 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:08357448-427a-4f81-819b-fb3bd93e73e7 phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_disease OMIM:616840 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26942284 uuid:15515377-c5d0-41a1-bee6-6dab1cb213ba phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:has_gene HGNC:23594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942284 uuid:6ed6f031-91e7-4948-80ce-38e3a3d46775 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:285fe3ae-e0a6-439c-aff2-63c82218b051 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:76a335fb-a366-4f01-824f-22befb3ef628 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:6c4ca352-5d8f-4fb8-861a-4b507edc8d73 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:ea42feba-ab95-4372-8e25-b2f5230bd0c7 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:77a221cf-0999-40c6-8082-4bd5f170d9c9 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0031908 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:54a65f67-8b78-4dab-80e0-569bafaef728 phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28862745 uuid:4910557d-4c96-4ffd-9bc9-7d9488530bec phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_disease OMIM:616840 biolink:CaseToDiseaseAssociation manual_agent observation P39Y infores:phenopacket-store PMID:28862745 uuid:9dfb2601-ccef-4e27-b74c-4db68aeb4dda phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:has_gene HGNC:23594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28862745 uuid:8d8786ae-a3d9-4232-a17b-a5c112098291 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0000726 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P40Y infores:phenopacket-store PMID:26942284 uuid:325307b5-bc5e-4ce3-852f-c002abbd45f6 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002548 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P33Y infores:phenopacket-store PMID:26942284 uuid:5d6d7147-fc0c-4580-9770-476da206be7b phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0031825 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P35Y infores:phenopacket-store PMID:26942284 uuid:90ccc538-6ce9-486f-ae15-fa0016b6c0f1 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002527 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P39Y infores:phenopacket-store PMID:26942284 uuid:1f608a4e-1b9e-45a3-81eb-2e11a5f1d37c phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P43Y infores:phenopacket-store PMID:26942284 uuid:b4593bb4-269c-44e6-ae15-8fe57c7dbfb6 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002451 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:e63dc052-314b-431c-8bd3-bde6fb1cc02d phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002529 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:7add50cc-9fdb-4d3e-8507-a91c289bf098 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:f57ee5ef-1402-4eac-9e9c-28fcfe42d62b phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0100315 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:de7484ce-b649-4fe9-8a7a-7dee43bab3a7 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002185 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:de631276-2c82-48b3-8205-25d89fc37076 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:607a9dfd-c0fd-42fd-8c3a-fdd53d1e1c3b phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:4af968cc-eac3-4897-a4dd-a299e0db2ef6 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26942284 uuid:a75c9de0-3f35-44d2-9cd3-5b7f56be9cef phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:f32ba8ff-0f37-43b2-9f3f-84c4d1cc88ba phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0007256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:6e6511f2-086d-4428-93d1-84a2d37526bb phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:39e12b64-c4bc-46c1-a7ef-7bebf74d11ca phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0000020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:3441ff8e-7981-4f4e-9f8e-401974e1acef phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0000738 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:a6c0b6b1-9a66-4485-8c63-7d7e70d04fee phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002172 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:2ed00f2d-3500-4ec2-b59d-b048e6fc89fc phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0000741 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:9454c274-7d82-4cf3-868a-64eb34618227 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0001289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:8723e158-a2bf-4dc3-99e7-d1f0b54b297c phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0004326 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:5bc40984-f7f2-4854-9a3a-6e6ed49f895c phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:3c12b0b4-5528-4c46-bb13-f6545c6ac63f phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26942284 uuid:d2d74766-8805-48f3-9f6f-d8b8ed911d8d phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_disease OMIM:616840 biolink:CaseToDiseaseAssociation manual_agent observation P33Y infores:phenopacket-store PMID:26942284 uuid:093a9d08-199c-45df-b053-3b5662fbc507 phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:has_gene HGNC:23594 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26942284 uuid:e6f996e4-a946-498a-a3fc-e1f8615a473f phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:07bd640f-9484-406f-8c43-a304edadd6ba phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:70ed9b16-510e-4a53-b36f-6c08107fd97c phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:3cbc022a-6774-4d8f-9c46-20c907b47ef9 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:3d8bee86-5805-462f-8a39-f967ebfd3814 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:24ed59ca-e176-4795-bec7-1a999af8264a phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:9070d90e-698c-4132-a636-38e16afa6cfc phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:ba0065a7-ed5f-4ece-8242-3958f7de0693 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:3aec2c10-638a-4eb9-8ef3-4827f2cbc6b1 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:69a0a015-35bd-4a68-9681-89da9e6ecf7d phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:f71e609e-d55c-4920-8f4c-677fc2a21e20 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:febc85d3-b13b-491f-9c5b-763b40ae0be6 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:4d2743d6-35ec-4381-8fef-f8c7dffbe05c phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:e2f22299-c476-467c-a183-52967c347590 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:fc124a4e-6aa4-4519-9bad-b9fe7603effd phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:a011d3ef-1d0c-40cb-8c4b-c592db693b7d phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:55ea2868-623d-4793-b78a-32d8e3343b5f phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:31090908 uuid:37744dbe-dff9-459a-ac40-7690de78d020 phenopacket.store:VRK1.PMID_31090908_II.2 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31090908 uuid:940b8c61-ec6f-4e70-83f6-678696d6e6d5 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:594b05ab-f767-49ed-b344-761b6c233048 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:13e6842b-4b8d-4f08-b35a-0a8af686e7c7 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:710d2117-528f-405b-aad7-a4680ade3542 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:54ae7b96-29d9-457b-b64e-18a179ce9244 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:05b40494-8969-491a-a793-92d85616ec9a phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:bd2dd4b7-4637-4f5e-9258-381e65039d39 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:4ec70c7a-d7fe-4706-a613-0cbd25d33edf phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:bd05c02d-094b-4ea7-bcbf-994facda3dfe phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:9a18a36f-9b89-4d30-b085-61fab0ea4d85 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:2fbc1ef4-34f7-4e05-a4f1-64c598483418 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:a0e6d397-df1c-4202-987c-371898684a90 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:54bd1647-1316-4f44-a78a-faeaa668ee89 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:d465e814-c260-457b-a6b6-dbcd8d816c14 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:1124a18c-209a-4ae5-bc31-1f864a7fbb5a phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:4eb6df62-0079-441a-bbc4-95a1b72d5239 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:298e862e-e587-46e5-8bba-8393c27486da phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:de8dae90-09dc-45ae-aa0a-4cf3cae06795 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:6fc300f3-c799-4d69-8879-abb20452136a phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24126608 uuid:c1cb7740-0ad1-4518-8ddf-f14a68058839 phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24126608 uuid:efbf8ec7-868d-40a0-9528-61865ba11438 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:24126608 uuid:e700b5c8-6546-4203-bb35-11b9800c722f phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:366fee23-e1cc-4caa-b3af-7a4b87943703 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:69a13061-1fd6-4672-a297-1a951c27fb4f phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:c1e1bd35-e2f9-47f3-9b70-cfc4e80efb46 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:c1753708-cc4a-4ef5-9ae0-184eb1914056 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:e899c60e-7780-46cb-8c43-11976c3e1fbc phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:27f42da1-40d6-4017-bc7f-f8fc1e8fbe8d phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:a58e77d6-ee8d-4e82-b9da-21012f6985ae phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:7567364e-d105-47d0-9d0f-8ffb020add66 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:76626285-a9e4-4517-a229-08bc398fac15 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:770e64e2-a1ed-4464-8043-538743659230 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0003380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:4307993a-4845-4c18-88a5-0b41927c01ce phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0003557 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:2d375ada-3356-46c3-ae79-39e38e367659 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0100297 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:c968f817-b463-4f5b-a2ef-e74b37042aaf phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:4b26fb96-5e53-4f97-8932-0e4f530e28c0 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:f7de5714-5958-4a72-8e55-2df3039feb4c phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:47dd0fa7-3afc-4bb4-a97a-cb75fd5bd8b0 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:22e9d2ec-e4d8-461f-8181-0dffb99b207e phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:a95418fd-71d4-4a6c-b02c-662231332a51 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:25c32021-f5bd-4281-8e1e-6ac35b786f2e phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation P1Y6M infores:phenopacket-store PMID:24126608 uuid:69ab8942-c80c-44fa-bf02-5d1aaf89b9d1 phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24126608 uuid:6d6bd9df-b6f3-40a7-8d16-3ea6d904fe41 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:894761b5-ad35-46f7-8053-a85467279c8f phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:13bbd74a-765e-47fb-b60a-0172a362ecf3 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:d69a84ac-5901-40a8-b424-24737dc064d5 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:2cea393a-ee12-46c0-bb57-3c2394c74fde phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:a828f815-6479-4fc2-986f-c0ed2708b7bd phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:18478d21-4356-4f90-8142-bcf38bbec09a phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:7c033cb0-ccec-4840-bea3-23373e9c1ffa phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:4ed5b6f9-f2f0-430f-b176-2fa02bf8485b phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:a4d7ed90-fa4c-48ff-a093-817623266249 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:184e04f0-aa76-4c55-bf45-791577c3b06f phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:4c5071d0-904e-41ed-9919-7cfbecaeb815 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:55c2e604-b8f3-49c9-9bd7-140508922d16 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:2d49b2e3-0915-4cb2-bc45-4410a4fc67ac phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:d567d4ab-c001-4f77-8fdd-eee855f69862 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:b5b6485e-b815-4372-8b61-b8c2ebe7ad91 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:2fb6f9d2-f2dc-4e9b-9e66-9136cb6d5e98 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation P40Y infores:phenopacket-store PMID:31837156 uuid:e4025d91-1ec4-4004-acfd-b29199ed4793 phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31837156 uuid:03b40631-ae83-42ca-817e-7f438f047352 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847374 uuid:04ca689e-ec77-447a-b2d8-2b326b842ce4 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847374 uuid:32167fa2-bcc0-45be-97d7-dec88efe382d phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847374 uuid:362f2a0c-120a-4193-a1e4-7f9129924962 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847374 uuid:656c7d9d-e474-4fd6-b68f-900fd148779d phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30847374 uuid:1b078858-5782-42a3-977b-2a85a954d761 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:120aa0b5-37a2-4c6c-b2c4-131e1e24120c phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:cf570dc5-9347-4b04-9fa5-5dfa2fb7482e phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:653f2e4e-b2a2-4002-ad64-18fddbfe6438 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:96caa075-7f09-4336-a42e-11a68f55e103 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:8715326a-179a-4edc-91bb-91edc35994fa phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:bd9c7022-7e0d-4ddc-a374-daa0c9d27ca4 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:9b3e99b3-b223-4e60-a398-55c704dcf027 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:3d2ec1ca-5d70-43dd-9edd-0167b144f8c1 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:7f766410-1da0-4337-bcad-2830327086bb phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:646735dd-598b-4f41-9571-57a1fd7704e4 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:b2a32c2b-d03a-439b-9a86-db83c53b19d6 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30847374 uuid:4733f653-38f0-4876-b544-1800d7e0e2d9 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation P15Y infores:phenopacket-store PMID:30847374 uuid:b4dc214b-695f-4797-a13b-df77dff368d9 phenopacket.store:VRK1.PMID_30847374_V-1 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30847374 uuid:80d50d81-878c-45b4-a236-13fbdc04eb67 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:38246a09-946f-43b8-8759-4a24e60f6b3c phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:421aef74-cdfb-4d36-a041-8fa66c95d218 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:78e7f000-b016-4917-8c13-4353f762abe9 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:085a3b6d-62d8-47c5-82cd-957de5cbca02 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31090908 uuid:95d23667-53c1-4930-81f7-5ff6fea0929b phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:1f6c9152-4c2d-44ab-bfc5-14920c363d55 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:a73a9123-bf6f-4aed-b5f9-78ad7f5291ea phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:9bcc6fa1-75f1-46e7-bd58-ffba3e265fd9 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:dc7b4897-f434-418e-9e47-398528f62331 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:b9fe82b7-f327-40c8-941f-64226d96d0ec phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:43f35a23-bf6e-4332-8e74-84c9b17a7a51 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:83b94add-9427-4703-ac34-2c5818488de2 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:120193ca-85b0-4cc1-acc3-33580387ff2e phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:36fe7710-d239-4ec4-9eb3-0bd343e638e6 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:f92e1b11-dc2f-4378-ba9b-0363b2c85733 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:c50328dc-858e-4210-9546-e77ad4bbdc02 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31090908 uuid:5b7a979f-664e-4a03-ad32-cdfe32662e81 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation P10Y infores:phenopacket-store PMID:31090908 uuid:890af0da-ff03-4f54-b049-8d754369db74 phenopacket.store:VRK1.PMID_31090908_II.3 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31090908 uuid:c73ed44f-9372-432a-9fbb-a3926dbfdc2f phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:24126608 uuid:8c092a30-430c-49da-a6ca-4444f76d2148 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:527aadcc-0226-4bb9-a03d-04412b662ceb phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:4649e139-7738-4dab-b079-b3ccaf472da4 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:c3ad35c9-1117-41c1-8658-568470a1f9a9 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:9a6a5299-391b-4fd8-883c-bc553e13b7ad phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:6f6876e1-dc03-4ee0-8c97-9b45ffc8ccac phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:7421abf5-9f08-4c83-a689-db8a44ae8088 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:bd5eb7ab-7d3f-46c5-a6ab-eb45300f7f46 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0007002 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:95f5edf7-8112-4209-8b03-05fd0d02e8a2 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0003390 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:acb2edad-62f1-4aad-b020-0c0d1ea43f2a phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24126608 uuid:b1645490-aa7b-49c4-9436-a526137a654a phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:f810728f-b11f-4b81-9d04-c468ae475a1c phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:91ed76b9-3484-45f6-a5a1-a1c92b68b642 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:12c132f5-7448-45e2-820a-b4ab247372fb phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:fd92b01c-bfe5-42b3-82f9-5103a41e0c00 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:31581c26-202e-4d19-8498-687793d09334 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24126608 uuid:303ff304-9067-46d3-9c30-f903aab3fae6 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24126608 uuid:d0dcb688-f076-4a5c-82c5-6d4adbdb0424 phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24126608 uuid:8a530470-06cd-4bc3-88ec-282082692106 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:aebb95c8-af39-4718-a9dd-d014d65caff4 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0003202 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:b52dbb39-2584-41cd-9ef2-d40f4a5bb50d phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0002460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:e0111158-8e1d-41b9-b935-d101e60109f9 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:31837156 uuid:e0a68dc3-b5b2-43ab-b033-82c3bdb2af6b phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:30fe0497-cfe9-4d0f-918b-b37290454813 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0032989 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:33810721-ea96-4db8-8003-5b7af07877b2 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0025336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:9aa1688a-399c-44f4-9d51-6d2dfb51b49d phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:749c8f6e-f8db-44e1-a729-a2f703b86a9f phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0003701 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:2e7df206-2765-4a30-9b63-fd680a1e19a8 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0009879 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:b5b792bf-525b-4edf-8a5d-55e87b30da86 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:78d27fa6-1316-43fe-bad7-997cebaa8cb4 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:406eaf9a-9afb-4457-a553-84270dca6804 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:c1b4dec5-869e-4164-a018-dda1bdefd2d6 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0012110 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:d536e457-6f6d-42b2-a390-64cd77d6b3a7 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0001321 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:471f78d9-1b1d-4bca-9ba4-af8a41a97eeb phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0001765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:cd4c763b-60b8-4af6-b764-1489e5d347ad phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_phenotype HP:0003236 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:31837156 uuid:2cf001b1-35e5-48fd-962a-5e74ee80e668 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_disease OMIM:620542 biolink:CaseToDiseaseAssociation manual_agent observation P48Y infores:phenopacket-store PMID:31837156 uuid:eb1de49e-1e0a-4c98-b870-6190d94b7e23 phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:has_gene HGNC:12718 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:31837156 uuid:e55eceb9-8cbb-4a34-bc22-5c0d01d8a319 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d84e3e39-5bf8-4dc3-9be2-f8b0ba383f75 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d4233cbf-f5e5-4c62-8681-a8df3c805979 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:79bbaaba-d840-4603-9a0b-195dd1ebb918 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6725dd6b-639e-4f60-97b7-e6068ec7bd26 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:cb8a2b2b-3bf6-48ad-b3e3-56e12446d1ac phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e6952ff1-7d23-41e6-968a-4ee5281879de phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a3ce657d-0ec7-475a-883c-209797758014 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:fa4643dc-36e2-4b44-9e79-93b5e19a207e phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e2145733-6709-4edb-a997-17ea05b0740c phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:847d89f8-2faa-4923-b2e3-6e7d31417201 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:81a47f75-43db-4512-8be4-bf557d156d10 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6d10d25c-c442-418f-b13a-654968a4b13f phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:385b432b-ab44-4178-9d54-599696c54efc phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:b54c8047-ca30-45fa-8445-ddda5423e874 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:25bbb970-fc63-4b94-9b9a-15caa9d59b1e phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2c953e0b-fb52-4310-b44e-6e91af3f9038 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:eeaeb3e1-34e6-40b8-a5f3-7fcf22138f35 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2da20482-55c2-4423-9ec5-3837843ba1e0 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:418a06e9-ea84-4ac0-8d12-3ba746314efe phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:034c539e-1792-4bfd-983d-76fe82c6e4d5 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:64fbdb3a-6a89-4d95-a744-0a74fb479455 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:4568a424-516b-4b75-b68d-04eaaa1ea114 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ee8eae95-b657-4590-bd59-d1a36a0a4299 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:fa414ac2-daf8-4ce6-9431-fba6cde24c90 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:89f4e04e-22a4-4cf8-9de7-18a070fc980e phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:95b5425d-0027-4c82-84c1-64bd48afa1a2 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:7bcf2778-aa8d-4958-acaf-c6cf02af1cc6 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:f4965eda-0f2a-426e-b7c9-98d009b09ce7 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:73a11b58-437e-4743-a0c6-08029f0fba04 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3ca7634a-1773-49a9-aca9-c2906a30fdfc phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6f4998d7-d38d-4243-8856-d64a821d292b phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ebce8ed9-3c26-4814-a1ac-212d2f569cda phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:fe047a24-fa93-4036-a8c4-b960cb45b149 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:43282a58-a852-480d-a7ef-c1efe1a69141 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6b4e1fcd-d4ea-498f-a448-674bd958c4ef phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e744cb35-0738-40b3-94e9-0bc7d14cdb04 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:913b3b58-1509-424d-b4c6-97ef4121351a phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d256c914-829e-4064-8732-853fbfc20cd7 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:8d7d40d2-2eee-4e99-8f53-e1ab16f55f61 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f0e427ac-e50b-4ebe-8274-2b34dd2319a5 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ee878711-f85a-46e2-92af-8ef0140aa316 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:bece5cc4-4b06-484f-a97e-44e5d926f7af phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:bba99ec9-68c8-4c29-b166-58fdecf21255 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3d1d7fa8-a911-4287-a6d3-2b44623157c2 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d9f07c62-eeed-4afe-a0c4-aacf4efea97f phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9b58f589-c7c9-4c77-961d-e918b22d5afa phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b8a0bc23-6956-4c40-a297-31304581c3e9 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3ecea59f-6563-4f26-bb41-2aa0b9017021 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:45d0d870-6791-44a4-96ec-9d1697d79a8d phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c74e0b14-e38e-4074-a6b9-4d9caf26090e phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1abb8095-0347-47db-9137-50aca2d725ee phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b1dcf1e1-7242-4435-a31e-5cb5e6516119 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d69da2af-3ecf-46bf-be3d-8edf77e875c7 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:83df867f-1d3b-4f8a-af84-00ab1beed6f1 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3fe80640-7281-4ed5-a05b-da31385f46c4 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e8a26543-1f82-482a-b0e1-6e02212d89f6 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:372d6e36-a027-4e91-a9a4-6203889e1bc3 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:57cfbc08-1184-4ad6-8566-65ed50a48792 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ffa8916c-2c24-4f95-9b92-d8cd85719fa1 phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_phenotype HP:0001776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:92422c61-fd04-46cb-bd43-8551a47ecdce phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:cb0ba2ff-dc64-49e0-b924-7900e92c8d3e phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:c9a6f31b-dd69-4084-ad66-4f182deaa9c5 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:c7f5ba54-084f-4e3f-ace4-019d912f9b62 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e17afb30-ae54-4194-9832-eb02a02ae13f phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37963460 uuid:0c5b0fc5-8d07-4762-a271-2ecfb3326209 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:c2dd4127-2ee7-48f5-a20f-17995f292df0 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:00277211-8ae2-4c31-9934-d7e76aaa1750 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:3a70bfed-f761-4724-a487-c0dab05051e5 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:9ae50fd9-d466-4841-9675-074693553a64 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:45a858ca-5620-4a86-9754-becf6b7e21f7 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:60d2db23-aedb-45c9-b26d-1bffba445d26 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:92e2b060-ee8b-423b-a909-e9a7b55e25fd phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ebed02c3-3982-47eb-9897-9f63241c38a3 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:9d9a78ae-0494-40c5-b4c8-bbb249aec0e4 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:21ec55f6-6f56-40f0-af52-e0445d96221e phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d8303837-1a8f-4e46-90fb-635e22d173dc phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:dbf4d6d5-4736-497c-9fd2-f0b5c1884fd9 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2555fc5e-02b0-4eca-8cdc-f7d8b8d486a5 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:69fd3634-824b-46dc-a56d-ed38e46d5d19 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:22bed177-e13e-4420-b9f0-3877dba992fd phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e672b479-04fc-4aca-ba27-bca21b9b7cc3 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:c1a92d88-dd99-43a4-9e4c-bb8e3904d5e7 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:9e287adc-25db-4ad6-b4b2-597aac7ba502 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:869af423-7794-4829-ae36-d45f2d0f4929 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b8fe6bd5-c05a-48a7-8cd3-1e34b52d8c41 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:89d50df5-303b-4357-b55e-d79b2c01c6e8 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1ff64a6e-6179-45ec-bf0d-a443859b51b5 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:423f355e-f888-45de-97ea-cbf23b755c79 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:db336330-5593-46bb-af72-927104079f99 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:12aaa021-792c-4c76-a5f0-0faa4aefe6ee phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d274b371-3cf4-41aa-92d9-5b8f2d33aa02 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:932f0f35-6789-4bab-a8c9-4ec23fc23f42 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:dcef0597-5d7f-486b-a562-ae2a1bcfca49 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:dc83757e-b936-4bf2-b34c-5c8ecfe0b5e1 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2a7e63da-4415-4595-877c-a300111ca2b1 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4a793a61-9006-43ad-b132-dcd506df3eab phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1d341f7a-703e-46a5-9073-006864ad8676 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:cda3dc86-4768-4120-9142-055614e389c2 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e5d3e577-a012-441d-b0bd-157da3101340 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0e928cd5-e19d-4698-a463-1efeb0003470 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7378a4de-22a1-4b2d-a87f-018d38b7f33b phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5e76cbf7-edbc-47d5-bec8-18d5d129e651 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:348c0a4c-1f08-4e4d-a9d5-0abc7a27f318 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:54bb9a92-1857-41e1-bbf9-ed7711ca5e63 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b284cc69-d678-43d7-af82-50fbf36dcdd1 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ccbb95fe-55d2-44fa-8091-920a87b81a85 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:cbab7460-69ad-494f-948c-2dada7415fe0 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2d19d62d-8993-4176-af47-502faf62315d phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:80c310b0-88f0-475c-8467-3a871192acb1 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:43c97998-a8bd-47bc-9493-2b1242a2faf3 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4370bf60-d9e9-42b0-beac-1d3d13764527 phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:699ba20a-84fc-4547-9a46-dd6bec4f0e7e phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:6930732b-b19a-44cd-93b0-28ce75be21fa phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:c6a94a9c-7451-47d2-a5b6-49761ec5067a phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ea26735e-27bd-401b-a682-2e0e98e99046 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:fab1ce48-0ed0-4dfe-9c2f-190e0817e35f phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5882d39f-9447-45b0-97df-257b8d9a0c2f phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:fe95475b-952b-443c-9b43-1d34ad0cb5cd phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:05f8194d-e6e1-48ad-928a-9bb1d29c1a58 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:68f3b8ac-4fa6-49e9-ba5b-949fe3c67a56 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7a8e8fc7-0b94-4bf2-a370-89d129f98381 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f2d1cfb8-df01-4e57-8df8-b37e6528d9ec phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c3eb4a1b-047a-45c2-b56f-a43b87e00069 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9d02b2fe-285a-482f-8c7b-aef4da626568 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:8c6ec32f-4f8d-4e8a-88fe-5d600605746c phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:c18e1d99-46dd-4f51-af03-273258a88ed8 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2ca35ec7-2a0f-40b5-a0fe-12a47d0d5c1c phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:f91e07f2-9e8c-4422-80f1-6fef0282bd60 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a6022df6-1093-47b4-af0a-060e3a2420a7 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:75b7db3f-3edb-4a8d-bd94-25658a795af0 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2a31e42d-2396-4866-acec-ccbf8a161f85 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a5fe2a64-de76-4023-9ce4-167eae5e84d1 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:87646494-a2f3-4086-a7cf-20595dfd1e7d phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:99d791a2-977a-4d94-94b5-311c3641e992 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:10b048b5-b03a-4b20-aa49-70b87378f9c0 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:1a3fd24c-55fd-4bfc-bcdb-a53d07e6a4e9 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4bbc008f-c84b-4312-8350-e331b00fbd40 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:899b130d-d676-4a7d-87cc-b1e4d533c9f8 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:850af57f-204c-43e8-8aca-ef3903e53056 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c36e785b-3a89-4d49-ae0f-efc5b796ac60 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:a95553a2-8c24-4a0a-91df-c905ddf9ff25 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:bbb401f1-65f1-465b-8ad8-fefe3ad29747 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e4554ec0-ba8e-4b78-9ed8-aa9511c92504 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:65756b6c-78b2-4170-92a9-7304e8161bfe phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:df9b4815-6e4a-486e-a3fc-f486ec8b103a phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:73666d19-9063-433d-bf2a-51c9ffbaad94 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7250230b-9d6b-481b-a9ad-7704bbfffaa9 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d38b9273-4c82-4498-a17a-5295ac411372 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:337401ef-accb-4c88-aaba-3740d49d03fd phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2dbb6be5-a622-4450-b7b3-9074310908ef phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:50b171b1-e197-495b-a2de-c17e8df8b1a2 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5f9594c8-5a2e-4b3b-93e8-8dd97668d30d phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:955d3b09-9385-4326-bfad-8befd5cd219a phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d42c02cf-2393-40da-88f8-9eb25bcb24b4 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:8aa0dd3f-8f2f-4cf2-af41-f22ba02b42d1 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6c2ba51f-b04f-496c-b3fd-619b56483b79 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:12d8e94f-5f9b-42af-ab78-4ebb55174e3a phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:722f146a-b5ab-475d-bfe8-76540457fcf6 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5b89c20b-a23f-44a2-8f1f-8a934f21cdd8 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d49c28a8-696e-4273-a1a7-a8019e4e6ac6 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:67a425c6-697c-4640-b0bf-43f615a000f7 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:14c80e67-e4f5-46fc-88aa-c2cf2c9883b0 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2aa6fca2-d5c0-48b0-81d5-3a6f81b859aa phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_phenotype HP:0001776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0f4a24c9-ff9b-4ef0-9086-c3680db4b382 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:66c80719-02e9-46c7-bc14-b38729331509 phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:cd42d7fd-844a-49f3-9d88-4a66cfd84da9 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:37963460 uuid:13a03cc6-f7b9-49c6-bcf9-50b740e1edff phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2dbb0a25-3a7c-49df-a400-461a0c611a3f phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:84a108d2-71f3-4e6c-9078-5d39fb419550 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:dad37e4d-d61a-467b-a1c3-b583f28e806b phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e010beec-33f2-4aa3-b551-96e09f8ce6e5 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2cfafc58-2872-47d4-a518-c20caea5737d phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:2e2b0154-5010-431a-99b0-5675939095ce phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:dee70498-f993-4640-9055-2e6819c683ac phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:3dd5e16e-0aeb-4bdd-9839-949e95237e5a phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a68e232d-4dc2-47e0-b699-1402502bfe2d phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d15cd13f-219f-4e6d-83a4-c487d036e82e phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:4a90f979-a2dd-44e3-a91d-190ad9e2b118 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d1f3117f-1b40-4284-9036-033c74ae6bf4 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:8298ae62-2656-4d18-ae28-0c0ed8629739 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:9fc44f20-491d-405e-bad0-ae42e4eb4f91 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:34d96681-4f02-4839-908b-7605e929635e phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:635d4a68-5ec0-4283-a57d-c9a320bd041b phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:3c273c38-c4bd-4709-b9c6-4aafcc879635 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:cffd913e-f2d1-445f-ae15-91f63a642dac phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:b3c4bbf3-358c-4442-b85d-64fe83d52573 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:b4e22731-3c37-4306-924d-4331639ba743 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:7c0fca24-6e43-4e96-8e50-0e8e00538c5d phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:90256147-4cdb-44da-9a9b-65a9e5101e09 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2aec73c6-c41e-46ac-b759-d89745c1d3af phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f7c291fa-1f0e-4417-8456-e640d863404e phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:97863269-4ef5-4f73-b279-cd38e73177b1 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:089834c3-fdec-42b0-974a-38751edc43c9 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1d05632f-56b0-4426-be8d-5821d85ba3bb phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9192a577-e96b-451b-937c-1ba224908137 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:8114352e-1c81-44e7-92e0-6184b1ff0bc2 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6bcea3dc-61d7-4965-953b-ca43d8cb14fb phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:57bc3fb9-4b0c-4372-925f-7b3771b28ece phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c60686d2-f5ef-4c23-945d-fbb6a1500b8c phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:188cb58f-0d3e-4083-9d73-2d28a330483f phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:963e7e48-1b65-4ab8-a51e-e27d1edac407 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:a0e7a11e-3306-4220-a70f-6f56ac4bd654 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5548ac3e-fd4f-4f3a-8d36-aaea972db522 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ea5d4f3b-9ca4-4fb4-841e-88b531a2cf94 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:db371e4a-75fc-4ac8-91e7-98b93d95223d phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1c253843-74c0-4d1c-9123-8aadb4ce99db phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:60c948f9-5cb4-4b6b-8242-3d6a789af57a phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9a80ee44-04e2-47ad-b4ec-15c665305ab5 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:81f5acdb-80c9-426a-af01-dec0b44b3cdc phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:481a9eee-abea-49e3-b4b0-ed40799dade0 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:15418930-5627-47ba-b4d5-4684e66e1502 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:22642018-8b1f-407b-89ce-7aed3377dffd phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:51c5b1f5-6c02-41de-97ed-21c77bae608e phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0a3c201a-510f-423d-8e97-1fcbcb859534 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5214bdb5-345c-448e-b5d9-e6a8355be326 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:077bad1d-e156-4638-8711-cfc8a2c7d717 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5409f9a2-b028-4b60-ad47-b30e09b2f53d phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1c517bdb-214d-477a-b1d7-e0ff6c9e51f1 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:09d2c572-ca86-4330-8a32-c68a95cb737e phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:a793d880-ca9c-48af-ba19-823c1ed26cb7 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:71703ff2-aabd-4f4a-890d-2af7ee1d3ae7 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c5fb543f-0146-4fc0-831c-b3d358ef438d phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:99f211cd-abd0-4c18-8388-429ffe633b06 phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:1c806592-973d-40c2-ab4a-54fbe1263781 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:45f64406-5461-4fdf-a935-c081ebea9fd8 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ee1e9d24-1eab-4609-bd00-2a24eea0ed77 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:3b226f1d-49a1-4aff-a4d9-02a6cde76446 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:c2889871-f080-41af-831b-a3a95564a014 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:f8c557e3-c949-4f0f-b61f-0e9f706953ae phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:3d41c2b8-0a9c-4943-a759-9c5fe8a20aa7 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:5f439ef4-785b-420c-9a2e-a2d51d7df9e4 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:dc473d18-cbe7-41cb-880a-6c62db11c07d phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:95fd7954-0e6a-4b6b-8fd6-833c206d9978 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:861c2221-d98e-4e74-b9e5-e77821eaba8d phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a6eb570f-324b-4455-8d96-cc9037a865be phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:aa443b46-8a02-4f1e-9241-5d1114e7ce35 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ef7382a3-713b-4921-b6b1-4ce0055e8cc1 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:8654d3f5-4fc5-449e-90b4-caed846debc0 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:8bb7fb5d-ae41-43ea-8a11-cd7cf9bfb854 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:19b76135-eee4-48fd-a844-e979fa378005 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:db43b4cc-8246-4298-8cbe-32f5c2c299a3 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0b7d8a34-b1da-4485-b926-8b53a62574d3 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:509bb9e2-acd4-45f7-b542-49eda375a677 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:51d607d4-a3d1-485a-8b4d-7498e50603da phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:dcfd5318-d672-49bb-a37f-d0d4ffba71a6 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1ca4b74c-f603-43f1-b9a7-c2055686df08 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:8ebe873e-a33c-416b-9a0e-040156b3ae62 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0ad104d4-8f0c-4371-97eb-795816d48c81 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c8bfdccf-b97a-4c6a-b9fe-712d7de04d67 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:36efb44a-af47-43b0-84d8-12be3f59a82e phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e718831e-df7a-45ce-af24-789764c3a000 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9adbf53f-4e27-4cc4-ade3-a7c284012a75 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:775aa818-2f73-4c83-8180-c84311436795 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f18f3759-6733-4a5c-8234-72411514642a phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:fcf83fb6-e7bd-44a2-ade9-cab568d055ed phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:fc86aaf3-aabc-49be-8fc2-fc969fc8a4d7 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:af26881e-f604-4e87-8ada-fc67cc553dcb phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9df75982-c49b-41da-9231-c6fc603d6762 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0237d9cd-2f2f-463a-bcbc-64c7739fdb6f phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e1117edf-5094-416c-81d6-06b58b95e96f phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e659d6c2-bd77-4f3a-b8d9-90d07dc38e3a phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0f0c42a1-ebd7-47c7-8153-80d3b4012922 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7a48829c-1139-47b2-bc2c-58e3bcbbbc93 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e23f1a69-e5e7-4b01-a161-9edc66419981 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9d9e7704-fa7b-400b-a76c-2b2c134b026d phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:25f4b186-4350-4731-a4dd-a5e5a2dbb786 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2d8f30cd-19be-4911-b18c-834b0e6b050a phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c331eb6c-e791-4f47-81f7-e354f3838a1f phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:04e8c78a-3833-4d14-919e-4695febcc0fd phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:a1f21cbd-26db-429c-9b0f-48ff94c53f75 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:cd4f47aa-ead8-4c4b-9858-33d61c09cbf0 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2a12a1be-9af5-4b5f-91ee-587c6229d067 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:099182b1-03b8-48e2-a084-05c57300235a phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c93dba84-6e6a-4118-976a-69b832300d58 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:59df7ef3-29c0-471b-99b5-ad4dc7f9966b phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:63c24678-dca5-4f8a-9c96-8f8342f83fb2 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:420d0c63-d290-4c9f-b199-76aa33e8f997 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:57f90ccb-333a-49bf-804d-f08b5b74a951 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:8c6ce3ac-e39d-4f24-aa52-1f43f26d7ceb phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0004325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:083521fb-b16b-4f97-bd7d-7111aa0b455f phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:626d37b4-cb02-43b2-90f9-4f64fbf19b64 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:77955324-5c8d-40bb-bf99-a4257c23f313 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:02e7328f-2e58-4556-b5f2-d22480e4de93 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:26481064-7a32-43bb-9293-819b8f42bb2c phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:30264ecb-a8e2-4466-b882-3b05bda21987 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e7cc0f2a-51d2-41f4-9877-fa9861dc1106 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:984d85f3-2840-4423-b4e6-8e04eabe293e phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:5d66258a-0d62-4b2b-a2cb-b7ade8caaa73 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:4cc34059-2043-4377-93b0-dcfe6d38b5f0 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e7686606-b703-4095-b405-f59e1f8729a5 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:7cecf208-3d6f-4309-b059-d52597651cf2 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a4e1ff6e-14c2-4fb8-a5a0-d1e9cbe5cfd0 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:fa3d5118-62a4-4af5-b244-2d0126a9c3c7 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:28986e06-409d-4a2b-a56c-1bd9f6977374 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:8f2e8bfa-e96c-4bf2-8d28-c684357776c9 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:594f92a5-3c74-4ddd-8a8a-514f600aec34 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e28e405d-2d15-4c24-8fe0-bd99cd88ceee phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c1dba34c-6659-4627-8437-71e9c0da7794 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2d7ed3a9-18df-4846-a559-3c8bdd7f9184 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:84251f92-f168-4767-ac52-d40d0eb7ec1d phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f10ec8e3-7af0-43ab-b334-01ecdcf90c21 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9a8ce69f-4c54-43ef-9ced-b2d621e6b5d9 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:38a3126f-23d9-46a7-ba17-f0de68898c9c phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ffc29bbe-8d15-4a17-b061-9495745e6a95 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2d4f7529-ca9d-4872-9c16-0e703409ba64 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:359f284b-822a-4597-97eb-e66adbf8aa74 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3995b7a5-00de-482a-934c-8ab595a9ed05 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:52b13a6b-eb26-4ae4-9920-b06927525223 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d27a129a-e5a1-4862-8489-25c7bf863da5 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9165101a-0bfa-447d-bf8d-00520717055d phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f00aa270-45bd-4997-afca-56549dd0da68 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ce8730bd-c099-4881-9822-459557d765e7 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f224a27b-0f83-4a14-a123-fd434986e340 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0c10c904-06b8-4e97-8c73-2259b3be9870 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:447448d5-e751-435e-b46d-8fe307470016 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:87a79188-07e9-410b-8df7-c2c9037a5c3b phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f04257a8-38dc-4cc9-91a5-dc4092e878a9 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7c8d8a64-7fb5-412b-9dd0-73e80e42732f phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:05da24ac-d5fb-422f-abb6-2ad8531a9882 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:75df90a7-3c34-4db7-a853-110412d83763 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:cb017c42-70c4-409b-8732-413b0996c063 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:8539558d-8930-4042-8ef7-f0d1baeef51d phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9716a2b1-d00e-481c-b2e1-8d58a69ba2c7 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b62f22e4-12e5-4223-a540-b6fbb905902e phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:a84faf0d-3fc7-4068-bc40-7cae1363aeb0 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4708951a-3624-4224-8893-181393459974 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d433d5bc-e5e1-4de4-bfc7-a1e196159121 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1af5aa12-9452-4581-83f6-77746ae32b6a phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:64999478-4802-476a-977b-023e254107b0 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:32832e2a-a189-42de-94c6-98e10eceaf60 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:79250eb8-5182-448f-8f5d-6d7efa89c562 phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:8f4f8816-69be-42c2-981e-bda5705394fe phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:c20a2618-3195-488d-b752-278a59b70817 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:82c4b19d-a5ab-444d-a957-9edcd4205d71 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:e0ea88f7-d1a7-49db-8b72-d7ba2ce06472 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:5dd57a68-0ead-4c01-aa16-88f546be20b9 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6ae76f55-fb5a-4e7f-a25b-1cd72ed7270a phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:0c566f84-7569-4968-b7ea-5c9920b1e9b5 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:1c5ca3a7-3fc2-47db-92d1-6f4101792e3d phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a2b7622e-cfd3-4f70-bf49-e4a8d4dc194b phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:12441f6d-cbef-4c2e-a377-178f48b15603 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:7bce1166-0491-4fd2-9ee9-b14821271e03 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:c3b4052b-ecf1-4a05-9852-3c6e8e8af8d6 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:cb08e804-4bbd-4876-ba53-d80971220775 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d5b17021-23d8-4302-a511-433813926266 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:1341e9cc-bc1c-49af-b2df-d6d338497ff9 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:0cc6a825-6e98-4fad-8b7b-947af8dbad39 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:72beaa4b-368a-4acb-a397-5987c17ab0cb phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:b9aa0b8d-9244-41c2-bfee-84b73382fe5e phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6b80228f-31c0-43d4-b860-aa2893780c76 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b1c9bf0d-79ec-440a-904e-d0211e385412 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001363 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f80e0f5d-3413-4824-90ae-88063df13420 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:545c3347-3d8f-4a19-87a9-8737d0f6bce5 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:8be8ff69-61ba-4a35-b8cb-ecf99f9a57a5 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:58aeaeb6-9e05-4b4f-9ef1-0c828d17d51d phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:a2214439-131d-4abe-8271-fbf3de7ed1c3 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:771915ca-cae5-4c6b-857e-8eddcc3ecf77 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b70db5e6-5332-4969-b5b0-218c64a9d9e2 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:15a0e5f3-8645-44ad-ae7e-d49f2f587ce8 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d081e58e-a11e-4c7d-9ee7-e68071cc0ee4 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5cd14c2d-5e9d-4cae-b4fe-4b768117da44 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d0e63612-5b67-47bd-8b40-3c7af75b643f phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2c1683e1-a44b-44a5-9c9d-bff0434ef5c7 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4113517b-25ef-4e65-8ec0-3c8d2047d3d5 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:247d96bf-9352-4ad2-b4bc-877eb2614643 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:fd7677af-917e-4c83-bd86-b80ffdc514af phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:33b395f2-981e-4b0d-a475-55427bce7800 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:840c205a-6b04-4221-8b07-3edf183c3ff3 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:40e9d049-48be-4c4c-9a64-1c5ec7155f06 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c6a6ffec-dc08-47bb-93ff-a7c47649bab9 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f72fd112-705a-44d0-adad-4e7771d21484 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:326c8716-b036-46a3-aaac-929bb5ce3c43 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:64e79a21-5274-4d86-8d19-fe9e6d4706fc phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:21cf2688-6736-4267-9354-d1064635bf4c phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c8a4e1e9-7d29-4cc0-ac16-4379f7026f61 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d1c0ed29-25ae-4bc2-bed5-26464b98af76 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:67b84373-97f2-40fc-bd93-02d41857394c phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_phenotype HP:0001776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c1362393-a73e-44df-a080-c147862f4592 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:ff894ee3-d3cb-49d5-bb59-df183dfa0123 phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:ff6f3d04-98ca-49b1-b9d3-4f9e292786b0 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:5d930435-98ef-48e3-8e23-b97be19dd415 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a9d89cef-56d4-4340-8da5-b2a8b81b0694 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:7d11c9a2-faf8-460a-abf0-e942fcce32e7 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6041bd68-128a-470b-b89c-fc95b9c420dd phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:53c9154b-35aa-4b6b-b7ff-0eeda845b4ab phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f353e2ac-c733-45b2-8d91-d26c2f9faeb0 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:0b49efc5-90e7-4fe5-8fe2-8101bf622161 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b3e1d02c-72f4-4363-bee7-8778f6e614f9 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:38019652-56ac-48b8-9e1c-87828fe6173c phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7ebb1578-8474-4520-9064-315da4169e66 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b6658d97-93f1-4d68-bf1d-e95c81b3e211 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:62db7663-e24c-4b3c-a6d6-ed62eab33314 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:08684410-0fbd-401d-994c-c803436932fe phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4dcc2be5-a133-4235-b4f4-3f39532b1863 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d7b9e7a8-d062-4954-8363-2d2c25570c2a phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1b287891-08e4-4de5-abc8-3084d7b55b8a phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d2c99c15-5d89-4308-8900-cc6ac9bd935f phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:d6f4d0b9-afda-43d2-9821-3f8b90281f76 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3a6430d1-7925-4d9d-98df-12496ee2f294 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:bbc8f6d3-76e7-4e4b-8a1b-63a7d1c180cc phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:63966936-a1d0-4886-982f-9fd3c8c0a2fe phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:bf6e9f9c-8576-405e-ae50-bd94bbbca291 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b60572f5-1262-481d-94b2-4c814a202586 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:ec0c7ec5-75bc-4128-85db-50179929d2f7 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:56f7ce9b-5abd-4f8c-9467-70f85ec78ef2 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:86386671-bf83-445d-8511-6c1a4381f290 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6bd711ec-f906-4a47-917e-7e58dcf0aff8 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:14bb345a-1295-4ff4-8923-3b12c90c9ec3 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000426 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7ba42414-482a-445b-9e30-35ff07d847dd phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7c463a6d-3784-4173-aa68-2c6d8112824c phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9cd15d7f-784a-4d1f-94c2-be9e8a12c770 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2b4a8b39-2487-411d-ac13-048fd3610d1e phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4756b7c5-a9f6-4f31-8cd5-70351c023448 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7dc92c0f-2473-4217-8b57-b1526e8500ea phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b304e793-6506-41d0-afd7-9c53250794cc phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:79770438-f00c-4b7d-aacc-8eefb9549243 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f111ac73-847b-4dee-b048-a811153c58f8 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e0a4f901-30dd-495e-9d79-59b7ef23df84 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5dab137c-433b-4929-8dfb-6c5ce2adddc4 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:237c81d7-f2ce-4914-b543-2fde87da730f phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:4135df5e-6a71-42d4-adad-97559113c420 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:572ca8d3-a347-4f7d-ac53-e2e0238e3988 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:55e011d0-9e8e-4733-a772-4f53ad6904d5 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5239b47d-3e29-4cd4-99d2-a8c3a3bf7e73 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c1681da5-3025-4c24-8dc3-5bd15883f79d phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001852 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:901d49c0-f608-4d0d-a8ec-e04a3f3e5e57 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3deb25af-8d24-4f39-8cf0-b16f22bd51fe phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_phenotype HP:0001776 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:263769bb-7739-4cb1-9212-30cc1aa55f51 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:ad797e99-8dee-49ad-b598-23df6a655928 phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:797a9003-f8f1-4c5a-950e-a9b5fe5bc9d8 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:c50514ff-22ff-4733-a798-965a759c6bab phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:a4565670-2c4d-42c1-a0bb-90eea5aa92ca phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000411 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:d5696f01-7ac2-49f5-bcc6-b1c747886a35 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:39417ab7-130e-4f80-81c5-43ecb261d305 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0010804 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:592c65ba-4979-47fd-84de-b374d0ef3e0a phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6c2953cd-f978-4d15-a9c9-c3059e788f72 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000752 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:9b0a55df-57dd-4c95-b8d2-fd02d7390155 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:58284df3-9831-41bb-8c36-dec06ebf4810 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ce32f5a4-64c8-4738-a4b9-7471ef6b6e01 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:38ede190-3687-41fb-8181-3b93e66074bc phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:b81fb347-2255-4b40-8485-a7d51c7fa1ed phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:6eddb9e0-e139-47af-90cc-a8c3c28c09cd phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:37963460 uuid:ff0d15ef-3691-4f0f-9cd7-ee72a04aca3c phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1d6d3ac7-8bd1-4cd5-bdc2-2205cb2fa993 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3aa3b3d3-548b-4889-a6d8-1320caf6e5d4 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:033d6b24-aab9-4ca5-b40e-a9ffd40394ab phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0002536 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:56ba5355-1347-429e-900e-13f94d0566ad phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b61de3cf-85df-44f1-a17a-10c814ea4008 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2c6826c0-ecde-409c-8f66-b8180a0791a9 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6a186bdb-f077-4742-9eb7-3cb20b7dd229 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0002023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:87a1cc33-4d8d-4e44-9952-3a52cf900c3c phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:81057cf3-474c-4fcd-948c-0ee9f317227c phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:11c7a1ea-5158-45d7-91dc-cad03b1a01bd phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0040080 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:b78f3896-09b7-4144-b717-d0f9186c2b8e phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000402 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:3192a821-fe0d-4d2a-9801-0ec0add7cb64 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0011237 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e6e4f078-8a81-4cf0-a1f0-3fc22ef32e35 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0031510 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:af7ef354-9606-440d-9feb-7e7d72088c71 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0008551 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:9a6e70d1-2ff0-4463-96fe-b7d90f00e1a0 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2cdd134b-468b-4edb-ad7a-27481a1a7b83 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1fe9bde5-daea-4ab1-80a5-59c06a1cbcf4 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:1d667887-9d8d-4057-b755-7dfec1a55e9c phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c02a4e37-5e83-49f4-b925-3e9f28c7bc38 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:2cd598a8-8cb1-4cc4-98cb-bc1f442e21d3 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:dcad7500-e401-4019-91ee-e453f1cc7f40 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:083e3d69-ad91-45eb-888c-050ae688b98f phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:7499a4f8-f5a9-4bdd-8a21-559076b6b316 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f282b0a2-d7f2-4a75-a46b-1829635f53c8 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000733 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:74fbcb84-835a-4959-9605-82cabde558a8 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:c685a4f3-fe0f-4406-8ef2-3797b9bac25f phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:616f17d2-aab9-4189-a6f6-0641d925aa35 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:6a68040d-f87f-4c9a-b71d-fb5ff7c09de6 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:44ef036b-703b-4805-8ff0-d5485c89e456 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:5f503559-d807-4fbb-8941-2cd5a5c01560 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0006979 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:e5789ee3-7fbe-4c2c-95cf-38d350cc39c8 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0006695 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f1ac4675-c704-4016-b1ec-2a833b9738ff phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:16aa1461-2cc1-4b94-bc0b-475adb849255 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:faff119c-e7f6-4fd2-af65-d9af3a636ddd phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001653 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:f5fb602d-938f-48c3-9b8b-b7aaf9e82642 phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:390c3af2-0c68-4a11-8497-9c958bf3aeba phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:37963460 uuid:362ccaeb-7119-4d42-bbce-f560e6a864bf phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_disease OMIM:620852 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:57350cdb-9d81-4f15-a108-d89d6d39743e phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:has_gene HGNC:12739 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:37963460 uuid:24f59a18-b8a4-4192-9d3e-8ccb8cf9c710 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y5M infores:phenopacket-store PMID:28686853 uuid:33da403b-6ae2-4acb-b548-4934d29f237b phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b52f1d92-683e-4889-b4e5-67ac49ab4b17 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:226c9d04-fa8f-400f-b99b-9cab4e2fc39a phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:2b44f9ae-6ebc-4f66-ad94-cea7fa1bbb8b phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c8f9632f-0962-4927-bff7-3ddfa45d98c2 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1b311f5d-8c5b-4bd5-8f8c-bbebae3831af phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7d670b09-33ae-4a4e-8d03-37b97e96575e phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b84e78f3-a5ee-4bc4-82d4-4ae9be058510 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:daf52d4d-731d-4b18-b227-e2b70c42052d phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b78da3b9-d705-42fb-8d16-6876d2d5debf phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:35b49db9-da36-437d-8cc5-f7702ed895d3 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0d30ed5e-3c49-4345-aa70-83895006454d phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:bcdbae27-7a95-4ebb-bb20-627a17d3b3c7 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1ba9741f-eb77-4f88-8d12-5a3f5443a1a6 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3bdd485b-75b4-4243-a153-1cbd137ef4cc phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1be05626-42ca-4341-98e7-49362e75e224 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e5820dd8-2a17-4ecb-8c85-8f2edc6d81f4 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0248f637-7583-413a-8699-1f5d8c75cde9 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d0f2faf6-c44b-4da6-8d83-d4d0d913dd1b phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:dc89f930-5e3b-48ae-bda6-bcf1829cacca phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:05f851fa-acf6-46e9-a7c1-742ed580e906 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4abbdf71-566e-4776-91e2-54ef64b4cd13 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c2f3ddc7-53f4-4443-aedb-d4bc71fa0450 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:996dc0c5-3961-4772-986d-5f5c27391455 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:724e1be2-87e2-49c8-a2e2-d528d9becccc phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d736299e-24e6-4f31-a785-df01b3a7212f phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:69f16a35-0ff7-4777-86f6-213073cf32cf phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e44b1d25-1c8a-4e00-8489-a46234a17442 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:458d47b3-0b62-471f-be92-992152060641 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d8bf3176-2386-4e22-9a2b-5975d2cc1a4e phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e381191f-4036-41e4-893a-41a32068a664 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d30f4e9e-1fc7-4dbf-8b50-bcf85d388234 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:937a4d6c-e276-4954-bed2-62b89ec3e2db phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:cc22f1a6-834f-42af-a2aa-5fb7268a9891 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d0c88545-bcc4-41e3-8328-2fdb3bcba0a0 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e8c8d6bf-aa6b-4a62-9dd6-d070e37540b4 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9e225893-49c2-4a06-8287-2af7c1b6a556 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:187e30fe-853d-4483-90b7-335424c42e33 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7fc9eb83-0914-45ff-84c0-748fb3cd86c3 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a49aca9d-2397-4250-b4b9-c33ab5d472c9 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ce4da43e-4461-4eee-ad36-284fcaec586d phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6b272243-df60-4c8d-aa3b-49ea7edb1663 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:11b1af80-5a04-45d1-b5fc-da9f2c0fad8d phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9763cf31-245c-4959-8586-4033894b264d phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:02848f28-eef9-4117-8e6b-cd2ea32272e0 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:77ad94fa-7743-4b4f-b2c4-4729aba22611 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:36e5888f-1a17-4f95-831f-a73095cee895 phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:10199dfc-f508-4353-a1a8-78a7a742c521 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:299f6818-75d4-44b8-8ee3-2a5e4c861027 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c7c550bc-3909-41e8-9bc7-f3bcf710fb82 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6daa9f97-3060-424f-bda2-c2dbcaa3ac5e phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:56889983-c66c-408f-a43c-9d5ecdbc1e6d phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:33f7d0d7-dc98-4d6d-b871-549870af11c2 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8012dfd4-b7ce-4b21-872e-eaddd24dc102 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:19e6c9cb-f1ae-495b-9a5e-f21f91089be0 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:be535db9-a013-431e-b850-22ea21401989 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:591b7364-097d-4276-a753-17886764627a phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:accc3138-e7e9-44c4-823c-8c8aa9fff8c0 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:131edd40-4528-4a61-a320-a470ab91afde phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:98d70f8b-0d2a-4876-941f-c2fe99b5fdcc phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b6e271fc-3239-47f7-88a3-8e5272830c60 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:62ade90f-a8dc-4f23-af89-184d4852a632 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:05bb720f-e9ba-42cf-a0f2-04a72e345873 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:da6eafa8-2c36-4ff6-9bf2-b27252a00611 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f5337119-a6d7-442b-b164-7e13c7c2712d phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b01b2bb1-916b-4329-a71d-6583e9df81c2 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:de0930b3-625c-4eb6-aedd-380f861b0cd1 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:bfce1738-84ff-4c52-afbb-d018540fe2ef phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3e54c663-068c-4f11-b538-d2fc7fc34340 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:776fe5e9-a36d-45fb-b3ff-57508133f403 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:51ab219a-f7c3-4d18-b002-2544d57ce438 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1ac2d489-47f5-45f9-8cfe-ebb972c3ecc1 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c8534aa1-39a2-4082-81eb-5dd1db35dc63 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:73d7a2a2-09c1-40c3-ba12-04e4c4d13020 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b188d0f3-251b-4996-bdb7-003c53f6eef7 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:82d2017c-a9e6-494f-8bc0-a5fda34a3e06 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fdee1e32-e2b3-43fd-b7c2-fbcbaf6cf519 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fb510e21-7237-4814-afcb-531fa1961710 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b550ada3-0e2f-4788-95d1-4cd917ccc29a phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:abdeb493-499f-4245-8906-08a7997b284f phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1a4e573f-a51c-4633-8918-116b8794433e phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:70c15790-eb6f-4dc7-b02f-1bb6972b4cca phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7d546c11-5f58-4d79-99c2-b21fd70357cb phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c5571082-ae6d-4f6a-bd04-4a7b0980ad43 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d734e57f-fed3-45ad-8e1b-21eb13cf260b phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f83310ef-0ccb-4591-97bc-e9a7d6cbbdeb phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e7ef8811-db9c-4fc2-962b-61dd8edd42a9 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8aefb35c-efb2-4b1e-9f30-d43a700ee984 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:959988d3-d8cb-42b2-8f5b-eb1cf06f92ba phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:777b573c-6437-4f92-a7eb-836d8f8449fc phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:aee8050d-64b5-4ab9-a95a-6272836f626e phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6aec5151-ae47-48dd-aa8b-05169bc9a02a phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:48036047-0665-48d6-8013-c39425518a76 phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:557f9a51-4db0-4070-9fe7-6efaaabeaafd phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:01338ad8-d185-4cef-9f20-1dfdf21dd19c phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P11M infores:phenopacket-store PMID:28686853 uuid:0f003185-94a7-4025-a928-dfef033ebd03 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0cfb3794-d2b5-45e8-bb4b-a7239c50bef9 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3ddb3dee-cbc2-4bf3-9997-ee378e5b8599 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:31bf4d25-0ebe-459e-8e98-23d8bd611f88 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b8c221cc-0e93-4d81-904c-7724d5a3c7f2 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:426bf543-d478-43af-b6b4-172eb72750e1 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:fc5120b0-ba1c-4af2-86be-abcf4ad75780 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6a04c27b-2172-4b9a-84b5-338c4adf6c8b phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6b4c1da8-6495-4291-9bf9-c5e0a4b0436d phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a26d5637-0d93-45a1-9948-d2076c35deff phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:44f7235d-8551-4fac-a4cb-50795121688a phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:2b8cc69d-5528-4fb7-879d-c27297b9b651 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:434a5983-2090-42c7-85f9-6e534d874d3a phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:5cdfa1c0-553d-49b8-9fc6-4ca597867572 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:2de3c430-8f9f-4889-b696-4e3f9253f51f phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7f3a19fc-a7e4-44fa-b327-93ebd3ae3262 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:05283401-3496-482a-a5a4-a2aa1d5df448 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fc5362c7-5391-4b7e-bebc-e1e3589500b2 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:551c726c-a78c-4522-a48e-f5adb726c86d phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8291159a-9269-41c0-9f4a-3e448056f70e phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d6761694-84c3-4880-9578-560a18927acc phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:13a6c4fe-ba1d-44f4-ad79-ced5ce74332f phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c7a0a022-b079-4027-ae4d-6c61de19a5ec phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:cc0a2c3d-a554-445b-8810-77a78b769e04 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b7f86897-3e22-4840-a9d8-ea192353d184 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7f7da195-9869-4bb7-a967-2e7a7e4ca54e phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0fd36929-47af-48f7-a87c-ef76bcc1ca22 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ba4c0f6f-8891-4d70-893d-677a242acfe8 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c9fd6a89-71fa-4cc2-91a9-5d508c6ef3e7 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e46c865d-75da-4070-861f-5b54ccc5351d phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3ea11deb-c379-4912-87d6-1a000372b2ec phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e50c63ba-b922-4d13-9343-b92e0488b672 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6fd5d203-5a79-47b1-831f-3791482cd629 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6c12f596-9a24-42d0-b6f8-5f69c22afe2f phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:55334853-885c-438a-bced-a6838230caf8 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c8b92dec-6b91-4da9-beff-e42c31fa65e3 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:bc54a760-767f-4a47-8d84-bb8368e143ed phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b2201850-dc39-4ae0-a629-948b11850055 phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f0a04ba6-f5b3-4772-906c-b4389a2a888a phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:644419bb-e588-42d5-b643-52a0af17e8ab phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:853b0903-02c0-472a-90b9-5d89ba651bc3 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:91dc0a61-f799-4032-b291-6918a1fd36d2 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:ec756a30-00ef-4415-a601-882058e4b44a phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b0f1e630-9c82-4904-ad79-8f86e1414ce6 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:9e6b0ffc-5a01-4175-abfd-0a9af1c5f663 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:cf93fc7f-338e-44f4-97a3-4b19a27452b6 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e2924ffe-747c-4e8f-95a0-d8d598add842 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d1eb6264-5570-401a-8443-b5f7e1272102 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3461a823-83ac-4e64-81d1-70478304cff5 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:caf3d185-acee-4a04-bd7a-b040dd8cdcea phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:ead7e67b-758e-4e2e-8dbb-d7a468609156 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d13fd28d-01a8-4f27-9fd9-a39bff49fc4c phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:5bdf3b65-0e43-46c3-84a0-3810271dace7 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f7760ffe-347a-4695-86bb-9db0069cadd6 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c3e7b74b-4ae6-4081-87b4-1feda9fbe419 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4bd695b9-11b0-439d-841f-071a40a2161e phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0a506900-835e-4300-a198-eb932cad236b phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a3b4f441-8ad0-4f1c-8176-8e777f0f7012 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:29f2f7b8-5ce7-4a79-8aa5-f715d6757659 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8741fa8d-363d-4747-851a-27d44e79bc5e phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:420513b4-97f1-48ef-94b4-3addfc2daf7f phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:4a28353b-de11-4c30-8a52-1b34fd9e275d phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e3060f07-0068-4dbd-a69d-362b6fe7ea56 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:51b188c8-c849-42e6-ac1d-832ccf886564 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:840f0a75-242a-4c83-af2e-43f441ce9e05 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7801e032-e06b-44ee-b8c8-5732c107390f phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:02511af6-f153-4b37-b89c-37ac5a2867f5 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c4e6b821-82b4-4b2d-8e4f-1f5201921e01 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:bdf2c761-1b43-41ef-b72c-00775d54cec4 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d05d9365-777b-4950-89ed-cc3e4a8f105e phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ae76478f-39f4-4cca-b21d-49f3bf554d66 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ea1fbf57-1b83-4267-a6e4-14f3f28a2619 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b4072eb7-bd0e-43ed-a8fe-5018f1b3e49c phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fd1196ca-a3bb-4e56-8971-731924fce8cb phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:846ee77f-09c5-4ae6-999b-e6ed4262d730 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:912012ce-d823-41bd-b2b6-81d8dee54ce4 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c2b40f86-fae7-4e35-9cb5-09cc0055d7cb phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:cdbefccb-14c8-416a-a0c0-0781fed89abc phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:026d5a13-d921-47a6-966b-7eb31382de4d phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5783895f-ec1b-41d5-ab64-55b4669b6f4f phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:889a354c-491a-4d31-bfd4-1263b3b250e4 phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:a9e473bc-6147-42f4-8f7b-e3a01fd2b1f4 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:aa709226-6cd6-4ed2-b45a-f1fc5eb0ec9c phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d8bbb8f1-1151-4055-84d4-f99625d07f76 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f1130493-807b-48f5-844b-ae8045552760 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b4b5e88f-fd5a-4286-943c-bad2f8ca9ac7 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:93cb11e1-a8d2-4974-a396-560ec27c4626 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f09b3ebf-c813-45ac-adb7-085c3798b743 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:ed7334f5-76e0-4e6a-8f20-9206479882b3 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:59e08177-5382-46b0-9dda-174bdbbc6551 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:43756116-049d-424a-a05b-1f17e2a13300 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:2edd9dc7-18b7-4453-b330-c71c34485471 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4265b60d-3dce-4a37-8a60-1712b1def226 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:bd233400-07ca-41ec-bf38-16a924824023 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6b871c50-a87c-4060-aeb1-e887830e11b5 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ffaba9b7-f5f7-4b1c-bd0a-8af2fcb7f998 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:03c58285-7427-44ef-9bec-66f735891444 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a0adf93c-dc34-4627-aa30-9816c8151127 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:255b0407-7d8a-45df-8712-69806f5b4e8b phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:714cae74-1942-4e95-88db-a7239cef6065 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:df5b8f07-d460-417e-a939-f9d656b853da phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5a575a7d-acb1-4582-b727-f1e4028f2176 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3fa23643-fc9b-4c09-ab3e-a621b1cb6870 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a1f9a0c2-ca46-4ed6-93cb-501be0e31a99 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c76e7e36-854b-452c-b157-0fb3abb75be1 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f75213c9-402d-4252-9c65-e59be76334d1 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:40486f1a-7c47-42e0-9ffd-705d45bf655e phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fca811a5-1957-4947-9f8c-16db7919ddc6 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8fe96169-b52f-43ab-8f2e-59b8190a26c5 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:398a7f3e-20ca-4925-9e6c-147a29625945 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f3faae61-fb55-4464-81b3-53880794a5e7 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:458d7c6c-d7cf-486c-a280-97f9c0a98020 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:17cfb6fd-3483-476e-941d-d080e57e91e7 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:035a5a40-dcdc-4934-b702-05bbc3716c6d phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e3bd3964-e651-476e-910b-29beb830d59c phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6107812d-05a9-4251-82e1-7194d30b8b60 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:baa37f5f-0ce0-441b-92f2-79f5417e0c54 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:51d73b22-af66-46a8-9757-6b23fba5e6ba phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:40ad2f0e-febb-4124-b94e-5cfe47d2acb6 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:feaf0990-0457-4277-8f59-750abc67be60 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:64eeb023-b6e4-4075-a711-ce0a2296af50 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f0b4f3c9-e4d1-4cf3-b48c-f2c184a102cc phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:82e2ac88-3bb2-4771-9191-6b0a786ced68 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3c4b8d58-acb5-4dd0-b518-c0da140d1d25 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:684726a1-bf55-49cc-b0ac-0af40a830dd7 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fd22cb7d-dcd6-432e-bd94-954fcaba53a0 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:bc870793-91c1-4125-9fda-a4cdce1ef322 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:325654a5-7731-452f-b47d-2ae8faff66bf phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:6932476d-bf69-41e8-8538-8904ccfe3112 phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:09af2762-5540-4d40-8206-43127859120d phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:28686853 uuid:cb73946e-d185-45df-80f6-3b8460d988a4 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:78356a79-a802-45c9-b535-f626599b2464 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d68aa563-c831-4d7c-9fb8-a5ff4fc4b512 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7a2a4e20-6267-4409-81c9-fed7a9354cc8 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e8ae2ccc-823a-4fe3-a9c0-22635726dbc5 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e06390e2-b4f5-4097-b271-768433f78a4b phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:bf717549-65d9-410a-b1a3-cca03ddeb1cf phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b68eac9f-bcc1-463e-92c4-401c7d25b675 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:9049e430-e537-4dc2-9e74-2a4c7a45c176 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:98da1d3d-b47b-4db4-9fd7-d83076a60ef1 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8f2a7faa-bc06-4017-ba0e-4043fe2d8d9e phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:460ab27b-922f-4773-8d19-30416ff8962d phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d7f8d62f-0928-4068-b25e-a50e0d8b206e phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:26dd9062-5d02-4405-88dc-cbeb38e7e664 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:17483aed-6abb-4bdd-8c89-274f299583c1 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:60307228-e0b7-4250-a0ec-1e5fef41e18a phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:003174db-c4d8-4e7a-ac15-4e4379af9e88 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:252660d6-a50a-4c08-921f-bd616c693f98 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:69cb50e9-a2f9-44f7-a1be-d04a56161bd6 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:96f967dd-37c4-45eb-8aaa-da7a5056741d phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:659c78a7-e5ee-4f41-9b90-511eb9efbeb2 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d83572c1-ec5f-4f66-93b6-6820d3b9d696 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:db557b01-9e8f-4cc9-adf8-7fd5d35b1628 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:926c7c93-937f-43ad-978d-5f25a619ca38 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c5ad4b91-3407-4a98-ad61-219663831b94 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:df5a10bd-315b-4692-b5ab-041c9201ecc4 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e33719a2-8db3-46c8-afdc-6ff8acbdd770 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9770577f-d6d8-4fde-94b0-a8b011ced0c2 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c4deddd6-46de-47e5-9963-79555c2de5ab phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f6a79af3-ebbe-4dcb-81e7-a02b0d19a2cf phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c84348c0-ed6e-4d7e-85be-cba5deca0191 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e236dafc-610d-40dd-a305-3c6120aa2c9d phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:35543a9d-7995-4859-beec-fc04acb9786b phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:07e0253b-ff8e-4541-8c48-550736b5ed83 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1cd4aca2-8f35-4e04-982c-a9b1380cf92a phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:38654082-6846-4728-beaa-595d558a52e3 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:85791ca2-a593-4e22-bfde-c36b4f684067 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f96d1fd3-ecba-47b9-849f-4631238cfaf0 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8518bb8c-9299-4051-8aad-98dd71144012 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f69789c3-7527-497e-9584-49497e734059 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e419074b-b890-4a86-ab6f-3648f7c938c9 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:91bc5386-5118-4032-995e-8f3309d9bad0 phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:49e3b9e7-c268-4e1a-84ab-17da9be3c30b phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:571c6711-3ed6-489f-b81b-8feb5b9fddee phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8c3583ea-0c0f-4fde-9aa0-df28c9aa241a phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:bd62e549-ebf2-482e-8bdd-6d16ddb3cf19 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:67759f68-7baf-48f8-8a11-c38b4eac8ff2 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7c8d43b4-b49d-4cb6-843f-1ced8b5b023c phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:33fc3e80-30a9-492b-a42c-33c2f5ec186b phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f6d31dad-2c0c-4833-8499-b0359e69f822 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:719f70b8-b71a-42d8-80bf-ecd23b6b2073 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a2388559-075e-4472-a7d2-e69f88e80f86 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:482dad91-d704-49b2-9cc3-7eb284154baa phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:5e1a25fc-7599-435f-83b3-090e31f40bc8 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:acef2de9-c29e-4fce-81ba-3f83b96a1b73 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8e9d560b-5d2d-4aba-b973-398a9d29f548 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:940d9927-7d15-43cb-9bdf-312c77d916b5 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0eed4025-2f5a-4e66-8e07-0718a96738f8 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f48a611f-a880-4cfc-86f3-e9f3c4f8068f phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:87b444c3-25a1-4970-badf-937fdcfe51d5 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:cd610be3-d3c2-4925-8989-1983c758bcb1 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9dd15796-9f3c-4332-823c-6e67431619ba phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c5122074-dffe-4db0-bbcf-cb86564765f9 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:238ad9eb-e116-4f22-ac9f-bc449beaad6e phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9b37d224-e27f-477f-8363-e150df73bb0a phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0717b842-d20f-4224-b26a-6d3fd3fe90d6 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:25574021-2f1d-4717-9e4a-07f29465e153 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5fe2bb06-3cc5-442d-a2f9-6a4ec96bff55 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5af3c123-1637-43ce-9e8d-a06ecb8e93e5 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c9aa2da3-0979-4a7f-87a4-3d64a3dbf37b phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fb9e87b0-f840-4207-959f-b6bef40a9d89 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f8d14d94-af93-4cf1-b782-8e3cd8720585 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:92123b6e-c755-4e65-ba52-1a133246195a phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5e61ab42-bcd9-4f50-8ae2-d6ff30e69753 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c594c470-6955-49bb-b466-365ca125f1d5 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0ded82d4-aeda-464c-9323-7fde9c577226 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c02ef234-19ec-4164-a991-917fd3264ce0 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6f5f46b7-2880-4943-9b98-d4d0092b8b67 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:99c162d3-8505-4566-9e24-ffa804d99649 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:be5df66f-1c54-4402-9033-d9f8ba1aba3f phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8321ec76-b761-4427-8760-48f5f4cfd247 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:56a8cddc-3ac7-4c19-9e0d-07eef4bb753d phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:50fc9f41-f100-4ce7-b25d-9a712d8d97cc phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9add4d16-a27b-4b24-8f56-6afccaf4dddf phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8d548da9-f8ce-4324-89a7-60050edc8a7f phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2eac47ad-57b0-4635-8af9-b20a7a14ec09 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:bb088de0-2f73-4f72-9aa0-265a2d08997a phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:aa099768-7f70-4000-b11e-14c57fb275ef phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a69a2062-e458-4996-b561-8829585d3d84 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ff1eb926-2f67-4699-8a85-826283116a41 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:ce0187ba-d63f-4b73-9c17-ee762d7a54b2 phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:0cdacf3b-f68d-4ad3-b323-41048f4c7e32 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:37e79ed2-82c4-4198-ba64-6e261860067b phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:91b1c3bb-96ea-4c06-a812-1fdadda0513c phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:cbd85195-8be0-40d3-8a44-0ce1558c81e1 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e3aaa1dd-ea21-41ef-b251-5ac20b50d90f phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:2763b519-d14f-4fd1-af7b-09c3ff2f8997 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f4882a81-2016-4f26-b58e-0bc0c0474586 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:63887498-be97-467c-a2df-17407b0d582b phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:969d6a85-905a-4cfd-8643-6cd56382c328 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0b0bfe32-190f-4c2d-bf72-807636fa72e0 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8800eb5d-9877-466d-9134-152ad97088ff phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d6734abc-5b22-47be-8d95-c72ee5ec5181 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:96a081cc-cf13-45e4-8cc9-db3ddea04b72 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b292f6c5-25cc-4369-b72f-d4e5c7e4d090 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a9fb6976-7461-4e0a-a19c-ecfa73d7c6af phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fec36b10-0fd1-4aac-8753-8ee27b15e0b4 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e8c71ea9-de8c-44f3-91b5-f871ec8078ab phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6fb332c3-be30-4552-8b4f-81798bafedac phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:18cf187b-73e2-42a1-b707-18ccb8864c8a phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:668506a2-3e95-4dcf-8f9e-0417191c3f23 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d9af6eaf-7f56-4141-831c-cf754432a79b phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a3bd718a-fee8-4871-8be4-8b049db1ff85 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c6277d0c-6ae2-4ce9-9d89-3203b96b611d phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9bb83aa4-19c7-4c2a-92a4-ba96725c5bb1 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9e1e581e-fb72-4e5f-9acf-c1a496b25a97 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b2b7e8da-d437-4bce-b1bf-4ed5c5878d56 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:35f3d1b9-6319-4a21-9260-4a006042f42f phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:dab16553-8d4d-4c69-b3c1-1992e8b37d6b phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ac8c4b9b-d3e3-4498-87ee-a1135a080f83 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:379be825-510b-4995-b283-0d1a07cd520e phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:cc1262c5-dd64-497a-9740-9aa35f7e2c93 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e4ff4224-b1f5-4e3f-b5b7-63534446df8f phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:938ee53b-7003-481c-b6c2-d128919db821 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a5096b50-614f-432e-9d88-f4dfe13b8f05 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:31717def-af9f-4353-8b28-dffe6b362bc9 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:eeb56b5d-e1c4-43e4-9513-d5b5e88549bf phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2fa3e920-2b41-4712-9153-c3282207a520 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0a5b0d8e-2eb6-436c-9ffd-47131cf1d2b5 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3e30fa82-dbb4-4f51-a1df-d8ae73f15c10 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a71a6629-b4d9-4b16-a6d9-4d85178ba593 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:54aff626-03dd-4a47-b304-abe466c8c625 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fa7faa16-021e-442c-a857-28dcb2d8cbb6 phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6f9d2e53-b1c2-4185-94ff-02ec6178822d phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:2e681e0b-2b2f-4fdc-87d4-04af2e2b703d phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:1096d157-06cd-4ecd-951f-1f7ea0576790 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:24ebf295-782c-42cd-932c-218f1683cd2f phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:bac50f9b-7edb-4ea6-a95a-fc6c0b2d4b58 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:bb96c41d-d675-4d1e-9c33-0195e1cc6829 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:fc05f6e3-726b-438d-a90a-cff30d2115d8 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1ea50d9c-f9ea-40ab-92e8-8ee9adcfcf1f phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4f028ac9-3afa-49e4-bd95-739973f11725 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:87afce02-51a9-40ed-9f03-9e382043e0c6 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d5a0abfc-da68-4908-ad19-bf5b040e1896 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7ea4b80e-3c78-4428-925a-ba7cad882ad9 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:27e569ca-5943-4d72-8b28-c1cd11a1373b phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8ec7017d-7f0f-4de8-9f80-ea2f478ec776 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:2b300e82-3018-4d22-97d4-8c3ddfa8387c phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:af8803e0-4538-40a7-8128-a9cbae1495ff phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:9a6ef3b3-73dc-4d1d-9640-5d1221101f82 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:84ada72a-2cbb-44e0-baaa-f557b0de6f50 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:833910dc-0ca4-4aa0-a6c2-edcc7d67afa8 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a92b448c-dd7a-4b2e-8a95-4e581d17555c phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:084d2008-f5b8-4f4e-b924-88ed44476bbd phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:203ccbab-b047-428b-939e-b7da5adeca75 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c56bc2f9-1c8e-4d75-baa8-f1b6c4d02d16 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:df6085f4-91f9-4e26-81da-f8830b7e020e phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c8e0e92c-0db0-46ed-8cb4-90bb32b670b5 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:4b71889c-3d88-4911-b19b-205d5196b2fc phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ed636ad2-e93a-4487-b05c-afb6549e6be0 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0d65094f-7a8a-4a16-818e-8ce384a51944 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e2f04217-1dcc-489f-9461-0e0e1309ded6 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ac272d56-b149-46db-8640-5c71d0044979 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e6692690-85bc-4055-9d1b-8e1d65a417e4 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:687f6541-d6ac-48c7-890a-b9f3754af188 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:33bd3fe7-4969-4292-af2b-77d7a42751cd phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6b47cd0c-dcc9-4a6c-b7f0-96f7e95aee88 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:82fcdd51-d8cd-47b9-be30-e105ce3cc7c7 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ef545232-4674-45cd-912f-cfe238edd8e7 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7d0245f3-7cbb-4708-aaf8-1c2d479e56a3 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:689f668a-98bb-47ec-bac8-c1158cfc4d94 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:14e1b113-5e4b-405c-9c0a-a20b01d99ae4 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:52350af6-df80-4f5f-a7fa-ff0a44e23226 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a1fa1139-4775-4d61-81ff-a75266bbd780 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f4b31332-eb79-4589-98e2-16b77145907a phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:3307e0c9-8454-461e-8ba2-73e2735e6753 phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:d236dab3-1784-438b-98a7-f9eecf11b4f8 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3e39fa17-02e3-4968-94ac-2baf41c7f943 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:86f0ebcb-c914-4dbe-b1ae-65883e70cb5b phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b646183d-a667-4235-99a0-1176b4b28fa2 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b55e8956-5476-4a11-bab0-4dff0ebea6e5 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1ac6b3f0-5f4b-4172-bb9c-79c127c35e71 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f31412a7-d9b8-4a3c-9806-9be083242d53 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a4002afa-81d7-49a6-b070-9d4428be25cf phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1db1bfae-ac6e-44b5-9768-442cf25fe0d5 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:edb4cf86-d544-4ef0-aa0d-07ab46cd8ba7 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8ad716a0-cadb-4122-94d0-72903dee1872 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:991b3eac-ab92-4d4a-bd69-19abdfc39395 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:acc83ad8-dcba-4be4-889f-2cccb8618684 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e5b535ae-6305-45f1-bba0-f8bc5c123c7f phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3579012d-905f-4c19-b690-07122bc9b163 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ab7576cd-9f74-47b6-af3c-d8146415a850 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1e5df7d3-94e1-40f3-8e4c-3dc22e8a9f71 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c4518e0e-32fd-4928-9811-0083632df952 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d97c2b71-f610-400b-af6a-d208388a6d7f phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:787088e3-674c-4611-8fdf-b1eda57165ae phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e87be737-cb29-44b5-82df-dc6766944b82 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:16a46249-b9df-4139-b418-ac4953f03527 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:374e4336-02f6-4a81-b3e3-6fa5e727c60f phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:354a64db-d715-4b89-94d5-e8c0cbcc342a phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5b9524b4-e30a-40fc-8d11-9f3896c3238c phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8d1ee698-847c-494d-b8e9-3d9508c82f1b phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2fdd8c8e-2144-4c87-ac1f-ca4dc1c43065 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:30e0ca9d-a5fa-437c-ae29-c35b21fbea83 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:94a4133c-fbd4-4617-bea6-e4d5cf1a0c28 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6b423296-a355-4008-ad26-b1994fa12e07 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fcffca1f-4b35-4a97-8d67-a71c684faefd phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f2f61d0c-91a6-4523-986f-da0d2348e144 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:75d82a5a-15e4-402a-b0d6-576f589472df phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d1905788-149e-4e13-95c4-e7ad72eb9984 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9ec18aaa-af64-4d34-8d13-669aa113356f phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:25b98c1c-62f6-47a0-9194-bb13e1d229b9 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f4e4561d-ba27-4f2a-8249-6928116edf11 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:13b23251-4453-4c81-a242-e73019973bc2 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3df77934-af88-4d4a-a914-96529364e465 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:83bf6ec0-a693-4d36-bd15-e73bd341f661 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:161cd74e-ed35-42dc-acbb-fb827a410069 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c2f9d4c9-10a3-47a2-bb5a-6497f22dba22 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:38c172cb-342a-4047-9e7a-d01adc353600 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:310e0398-ea5e-4595-9b92-c3ee9e9a613f phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f6bf3901-7aca-4c53-a483-43e751abdb33 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d289fb8e-4899-41a0-89f0-e48ef177cf27 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:97d36107-c13a-4c91-9cab-b707a74c47d2 phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:6bbdbb3b-d530-4273-995d-03c066f2660b phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3eb35b5e-670e-462d-8385-a5822164a1f8 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:9f96ad4a-a474-40f0-ba63-5f72801da23c phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:22e5b65e-dcfa-4d0d-a387-91fca8e9340f phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a5929d5e-c91d-45f7-bc97-a49055a86b0f phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:9c84be6f-9be8-466b-8d32-1ad2fe283a71 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4e5f65c6-0876-43f6-9e8d-e0719fa1d669 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7b17259d-b699-4259-bfb5-039d8556b447 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6f92fff1-3162-400e-8c45-8c24928d4120 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e46219a7-5fc3-48f8-899c-132f24a8a961 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:860a681a-1cc8-4dd9-9428-b3462cf72461 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4c1d479f-90af-4b5e-913c-afe60142eb25 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:8724e770-8063-4feb-9412-7f3e2e57e06e phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:369b6009-aa0e-4c1c-bb61-c04eaf5b1f6d phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0599ff94-4b69-470e-8149-d73d6764e705 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:fd5c126b-4901-4989-8fde-1261ac7e0912 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001761 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:93170561-00dc-40e9-9183-75dcdb187272 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f9e3f566-0ddd-483c-b3ef-4f3b95dbe08a phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b5aa8976-2cba-42c6-9d8d-1fc2cc309789 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7d1d9ade-7a2d-4cf4-877e-29adb4c53414 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:25e9e510-48a0-4f5b-a956-cd79e58272b7 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:311f44c5-7a16-48f3-b6f0-66eee68cb9f3 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:899c0f8f-caca-4f7c-91d1-417d7de4ac6f phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d7118e24-54ec-4a2d-b649-e84ddb52af2d phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d4b178dc-a92b-44b2-a462-58dbbc23306e phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:525441a2-3367-4c98-b2d8-d2c94363c449 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d390dbb2-9f9d-4800-a13a-addeb3345da2 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:cb484291-efc9-47eb-b6f9-89574c9755b3 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3d98faf7-fa7d-4734-af5d-89b8375a788d phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fb788302-01d5-4940-80bb-34124f9f9307 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:388f8a46-2f83-4827-b82b-c8a4bc74f214 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8040b82f-c5b0-44a5-966e-55ecec2ab8d5 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8bce87c0-1d81-40df-b36e-13a731a29aa7 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b733ae09-45df-42e9-80ad-eb9f97329132 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1fd269a1-890c-495d-85bb-7064af6e5eeb phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ef0f8423-93a9-43eb-a023-a8b91f6233e6 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5712f430-e6f9-424e-99e9-955f6c4962ff phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1f5e598c-da1b-4961-80c6-1c19908e9570 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fccfa88e-195f-422c-b44f-dda987435e66 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6f5d8abf-b588-4274-9f9b-6621924db709 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:67142256-4e2e-48d1-90b8-470a14b90734 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b2b935c7-ae7c-41ad-adbb-38c8fbf28f49 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:01968982-8825-47c9-8e4e-e94418f4915c phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e298961b-e788-49e4-9397-e9c3903fe61d phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3d384056-7b06-4a05-82df-a8185b73dd38 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:af0f0599-e4c5-4faa-b5c7-322a07ad960b phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:216dac04-acbf-45f3-8119-9862bdefd0da phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6117fc12-2a1c-444d-a85b-803945a96e1f phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:4d639ff5-941c-440c-9148-e1a8aef750d6 phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:85cc39fa-8285-44b1-9235-822ee480afdf phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e94f434f-ffe1-4128-85a6-526902ad5347 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:92aeb21a-2f57-4c2c-b3f1-5df1b8ae51c3 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f7af4b79-236a-4d91-b5a9-017bad0196c1 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:94240edc-2ea9-4be4-bcc2-e415183a51f1 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:03d2cafe-4676-451d-a392-fddbc9510663 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:79d9099a-3d59-42ab-bd54-134e5e1e0910 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:38f3fa0e-81e8-42f3-b366-92deb67796f5 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:d35513e5-93bc-4c37-a81c-cc040571b14d phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:aeed46c5-be00-461d-8bf6-febf1ecf1c8f phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:ea83f6f9-8327-43e7-98b6-0a9183a7b14d phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4a700a2b-bbec-49fe-aa83-856898d11add phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6a50eb1d-0a33-426f-b817-cbd59e15e590 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c584632f-7ba0-48dc-abaf-e26d7ec228d4 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0d9698a8-9b1a-42ef-9d0c-2bb35537204d phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:632d62f7-ac5d-4c50-8518-cba7f89ce182 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1ebd043d-94b8-410c-bffa-5b640650ba41 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:64b475d6-994f-4331-89d2-a2526e055abb phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e96711a5-55eb-428e-9cfb-339bc7df6d63 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:ca07c097-ac55-4927-9584-100130e93a8f phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:29705579-3627-47f2-af80-b1c1bdd1eef2 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:68b10424-40a8-4bc1-809f-1c4e107dc909 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:102d2cd1-0438-45c9-93d2-795d49876f21 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:744624d7-593b-4132-baea-2d61fbaf949a phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a5ef098b-d501-44a8-b23b-5d884abc2e73 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:027dbf3d-40d5-4fb4-bc6c-6e097c398cbf phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:dde9e324-9c3d-46f5-8c33-c9eaa4b8a10f phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2de54695-1286-4d32-b060-44e56179b418 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b6709622-220f-4c3a-a739-d442bbb581e4 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f15891aa-61b5-4419-86f7-6b89845b4c3a phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:427b800d-3fe9-460b-9293-9973d027a4dc phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0588c2d2-0aea-4d5d-86ad-7713a647f2fa phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7a6db57b-10a0-4ad4-a771-93779277182b phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:14e3448b-83db-408d-978e-eca833e1a27e phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f094ab01-e84e-4281-a411-e3ab7bd31a7e phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:85bef98c-0905-48e8-bad3-34fb7f224281 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:dbff2aec-1cbb-4de5-ad5c-28b2b982bc96 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:39b81527-4c26-4699-8352-3b2d72c444d5 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:aa70f2de-9590-4e3d-ad13-194a2a6e2c60 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:685505d0-b1c7-4d59-99bd-a6506080f845 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d4592171-d759-441f-b650-0af9d7aa8ea4 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1fcb60cf-580d-4d7a-a10a-49fd976a8eb9 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:48611caf-5c94-401f-abf3-57f07ce8d483 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:943b7b1c-96ff-4cbc-892f-7efa5ec1f37b phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f4c16d69-fc31-44e1-b0ee-c517e39e4f81 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:58d0eb71-a053-4468-86ff-be64dd655b6a phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:22483adb-c09a-4683-b9a8-5b58cd895bc1 phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:2630870a-a65c-4e01-985a-3d59557c964a phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:6ad9a192-caae-43d6-8369-0c1b70711b73 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a982d8f9-ff0d-4ab6-9cfb-a362f5d72337 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:44ed4b41-efe6-4144-8bb4-4065e475e6f0 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1b9140f3-0088-4fe5-8e40-9d4657b467e2 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:565e464f-799d-46fd-b881-02510e94665a phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:86e47ce1-c4f5-44b9-af58-1e8461b6693f phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:10e4cc71-a9df-490b-a4a0-5a9478c71536 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b58b68f7-0d7e-4a0a-879a-d97815325035 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3a827ceb-0565-4933-ab62-00a58120a74b phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c50c26fb-f3ed-4948-8622-f3073b9740f6 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:abd75f15-c16f-43cb-b30b-f60fd246718e phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:9cf9b4cf-9d18-46ae-9c25-4e08a3da743e phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:080026dc-dbce-475c-a25a-ad92058429c2 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a9ef49a2-903b-4c2f-9ed3-20a6b2762bef phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ef03ef51-6abf-4ede-9cb7-339d48396066 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:4f5b5a22-b0d5-4601-8329-2bbf92f6d431 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2410984a-d78f-4840-8bec-d1e73658dcc6 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3ef197a1-0c94-4f4c-969b-759c25d7a1ca phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8600566f-f6b1-457e-81b5-869284526382 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c5a4307f-d0a6-48e3-bb5b-210f73b0f91b phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0e6f1376-6169-4180-bfc0-ed9d2106c7ab phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:4073ba13-c71f-4565-8018-5b6d65ea8f2b phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fd834383-6ea6-4eb0-8a4c-12990ac0a4ef phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:857bbfd3-e3b5-4d1a-a272-c9afba451d4b phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:b25fe183-c7b9-4cde-848d-5e263ff9f61f phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:04993c27-08f8-4e57-bbe8-e0879926feb0 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f7693100-c5a8-4193-b60b-63e0bbda8ec2 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:992eedb7-788f-43ec-b383-3c41954ad28d phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6bdc48d5-bbac-4f35-b978-3e2283f223c7 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f97cb02a-c0e5-46e8-bb44-e33afff087be phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:62221aab-273c-46a0-8a78-d2f2e0ec3bfa phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e193ddca-a19d-4df1-99db-34894dd64409 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1b940971-b810-44a2-a8a6-440ab6c868f5 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8fd27c99-ce24-4f37-8e58-5f252647ceee phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9a62402a-251d-490c-bfb4-7cdac03e11a5 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8f128df2-3247-4534-b1c4-bad6f0e9e744 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d71d84cc-d37e-46bf-b577-df39dc6f8a9d phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1d54f04e-7c50-471b-9dcc-7a75393d7178 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:4f30009c-79cb-4e1e-9b32-21e8ab67db6a phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f92a97da-1c76-4ea6-a0b6-3693945cd33e phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:812714f8-77ab-42af-8a75-c91e72ee845d phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:aa3e91d7-9750-4d73-8066-7c72ed3db79d phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_phenotype HP:0002373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:20a8c3b0-4a27-403d-973f-329ba9f83859 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:5602786b-0a65-4b51-b233-6faadb11df41 phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:c5ffbe30-3489-4820-9d60-e33f5b209937 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:453ec811-4a39-4602-8fad-29ba4d8f599e phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f04afd87-a28c-4c3c-8b1b-7572dd12ddfa phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:751df0bc-9fcc-4557-822e-1d51c9fd42f2 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:30bfea0e-9983-4c59-9bc5-65b12895ce15 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:614e813b-aa5c-45f7-b02f-1655899de9ba phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:506991fd-dcca-449a-9430-1c5abeb7424e phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:e7df0cc7-d134-45d0-96a3-be16938210ff phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7daf0715-0a4f-42ae-b62a-543f2352f7ba phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:692ab699-d059-4578-a310-bd149bfb829e phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:cdfe89d9-2c0f-4192-84fb-0a1e20dd8643 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a22c6698-9b0d-4d52-8a66-83b4117e3d86 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a7a3610d-0ae3-49f0-998d-0bebe0f19f8e phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:05e23f3b-1b26-49bb-aa56-1f0c889a316c phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6beb4ded-2d49-4750-bafc-154307c4c9ef phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1492372b-9e39-4713-a031-9c18b656d03d phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:7a62de4d-09a4-4456-b73e-051f09f724f2 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:c2b05764-dc58-4aaa-acc0-afa1aae8647c phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:dc2ab169-b731-46e4-aae2-d26b0a0f4dfb phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:053fea83-335c-47b3-8634-af453e38834c phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0b09b7c3-65a2-48b4-909c-82474083dfd4 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:fe9e3a84-412d-406a-a9d1-cc3de7497ceb phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:32df00c1-75a0-4602-bfc6-7ea816dc6047 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c392b0eb-32e2-4c6d-8307-c59192408f58 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3175f16f-b982-4e21-a6b7-53e8ceeca8a1 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:469a02c2-ffad-47a3-923b-42aa9e5c41cf phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:8ee1565c-3885-4050-a2c2-a6285ff5a303 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:e4479e92-c41e-4f20-861a-972e69110f83 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:50f697a6-2206-4d1d-bcc3-8472b786631e phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6f28a788-cf8d-4335-a813-632cc5744781 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2a007dfe-57d0-49b2-bf77-ea13c28d7ac8 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:6d6daecd-53f3-4b0f-ab97-26cefcebc469 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:c2de6cf8-8a0e-4738-8abd-95669a1ea204 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1c301a13-1ebe-41fc-8384-36d88bb2b6ab phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:3444704a-3b9e-4f6c-adc0-a0a4f8ae3ddd phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:81a2d649-f93a-4ab3-9cac-f97c63e2ec31 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:28b2ecf4-15d2-4aba-aee8-0422e8f507e0 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f9241cc7-2048-41cb-91cf-8f3ff95df993 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:557075e1-91cd-44ab-a8aa-8517272152e2 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9648f6c5-aea1-42f8-a5a9-713252a71da8 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:ee8f8874-a70c-48a2-8970-271f6273f5a8 phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:e417727b-8869-410e-a5d4-216b1524efdd phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b6eca407-a0cf-478d-811e-16a1c5f448a0 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:86d6d31e-d9e4-4fde-92e3-d4c2c6ba0be4 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001090 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0cbb3170-71ca-4206-b884-15690c9cafb1 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3e6407b3-5f5f-4d48-ba97-f54f0b096e89 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:0ea49ba6-23f4-4d82-8f04-971cdf83b6a3 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1e640f59-0da8-448e-a533-608f4a40872a phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0430028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6543e835-1035-4782-a117-f7c6ac68e76e phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:fe5bdf2a-f514-431d-9266-4c3082d883fc phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000293 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:4e298d8d-55f0-4079-99a4-5fb8b38018b8 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:f08f33eb-2268-40be-94ae-92af69e3eac4 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:98958ef8-2973-421c-9b31-d0344f12b487 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000179 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:b9fe342d-0991-4bb6-9ec4-15b7a8c1557a phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:a743ec45-16ae-4ef1-ad0f-9b5443cb3c79 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:6aef848c-4648-4b8a-9bb7-2023804a680b phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0010800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:1eb7fc7e-9482-4568-b009-67a8d45c0e02 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:3e61b674-d4b2-4f54-b5d7-4698fc1f071d phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:28686853 uuid:78be3e56-54fa-4019-95f9-75c22b6b3e93 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d13a4a1b-e9a3-4ce4-a91a-1ef1f12d2588 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9c3b0c0e-d46d-47f7-80ae-0963897a4646 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0435746d-5d5b-42f1-a4e9-a204507e3eb1 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1c164ca2-2313-48f6-9b62-97ec0439490f phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000248 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:2526e4bf-fc98-4029-b095-11e7247f707b phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:868936d8-77cc-469c-84df-e8932ce85cde phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7190e285-a5eb-430b-b77a-967a710534c0 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:74acba88-579a-495d-bdfb-0707e50c63b1 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:5d906cb0-963d-4ee7-b021-ca25896f4fb4 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0005338 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:92f3576d-531d-4a34-84e0-5c05325617cd phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:1b8cdbed-e144-4e92-91aa-300b13ca519f phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0003194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:574df6c0-73ea-49c0-bf7c-062204af05d9 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0009933 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:14c3c28d-b055-45ff-8b22-9852d210b5c6 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:87cf64f6-43d5-473e-bec3-87e409c49ec6 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:0d89ad2f-35ee-4306-bfd1-7f093f858c59 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000212 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9298cddb-20ae-4162-aaea-74f08b7d3af3 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0200055 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:9384a5a7-14ee-4a4b-97eb-6e55d61236f9 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0009623 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:ea31f053-8bc9-4503-a445-ada5970d9348 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:be0ab0c1-8891-4d76-bc08-ec0926f411b8 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:862de764-0c23-4448-aede-048782f4dee6 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:55af0ece-23cc-49da-898e-07d20d738f88 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:a78fac64-35cb-4a56-88d3-632c1543a48a phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:67776832-5359-4e46-8785-96aafb1e0854 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:563ee6b3-4a58-4f94-b190-3cd2c882a86d phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:339e3d04-ba86-4488-b470-e74ad8536387 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:d524999f-f6b3-49bf-ae93-3dcafff647ea phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0000403 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:7a0f99d8-057f-4f92-8e26-8913569dcf6b phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:f3787aa8-21ef-4a99-885d-1bbbe0417964 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_phenotype HP:0012683 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:28686853 uuid:dbfd174a-b8ed-408c-8a9e-8d83bd606bcc phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_disease OMIM:617616 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:7bb7ea0f-e8d8-44c1-88ad-064323b37032 phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:has_gene HGNC:21208 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:28686853 uuid:9a9232d2-0766-4de2-9b6f-6f1ce041a6a4 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:d9f1f673-7240-4b79-9c98-bbdb81efb0fe phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:cdd83678-0803-4a87-ba0e-9afdd6fcb9a5 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:1bd546a2-d56f-4b29-92a5-73072e6261d7 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:a857c081-b189-449c-9581-d56e89799cc5 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:f851fa67-f09a-4d32-8c41-b3837be04833 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:79bfdc54-146e-4892-a4f0-0fef3c288ed0 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:60e9af4f-590b-4bbf-bcba-7fc6c51fcbbf phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:d8c387fd-a04f-49bf-af5b-23102744c61c phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:b32a12e1-e328-41f3-858a-077adb26f84c phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:4c542f22-1be5-4284-bc05-9d2ac2ec92b0 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:17e4b79e-12f7-4b24-b3ee-d463db9b5507 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P14Y infores:phenopacket-store PMID:9817917 uuid:87fd8417-e458-4de2-86d3-1868129a76e1 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:31eff6a6-7aa9-45cf-be9c-5655db713de1 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:d29d0216-7fbc-4225-a099-48bb498200d7 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P10Y infores:phenopacket-store PMID:9817917 uuid:bdfc1dc8-7274-43e6-b34c-aa500edc8021 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:2e66d19e-4455-44b9-873a-dd45012eddc1 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:f5574122-27e9-4179-9b5b-00e591ea61f6 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:4597a0e7-b143-4342-b460-e51b14fa74e7 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:298bca7c-032b-4847-8aa0-5ea000dd0dd1 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:c68ef296-2402-4301-81be-1248e2354760 phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:51747bff-8889-45f1-939f-10e9f6175c4c phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:072ad012-7fc9-43fd-b379-aa5eeff35bdf phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:f25b75ad-42a0-4921-a9b4-10541001bf42 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P17Y infores:phenopacket-store PMID:9817917 uuid:abb87a19-d0e2-437e-adc8-50f409b38cb7 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:24f362b5-8ed2-41b9-93aa-094fa84cd69e phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:91ed3d31-0c00-4f98-973d-ff5124c05c74 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:d3523a83-db93-4c31-8fcb-74424112a4e6 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:8ad9bce6-a6ba-4c8c-b7a8-30e33ed5c5e3 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:853d268e-2049-44ed-9ded-a4a00653e314 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:e11b122d-ee68-4279-9492-a5c5de3c94f2 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:9ead3d90-a0f2-450d-9195-202ffa27d522 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:8b29b1fd-bd33-4161-ae7c-2b12d38da9b8 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:b6e932c3-ebe9-4046-aa93-ffa13c2495ac phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:c8319fb2-6d07-461e-a824-3cc999109db7 phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:205c3e88-f9ef-4eff-9288-e98dc90eb462 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:9817917 uuid:4501cd77-22ab-4833-b8ed-abf842a9c53e phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:b042555f-18cd-4eca-9dd3-6d42f4640924 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:7fb01851-c3e9-45c2-a1f8-9aaa35e3f4fc phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:78e67836-0368-46ab-96a2-3f7e6c100469 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:9cf0e6df-a4ce-4886-9fd3-7c86b8dc352f phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:9af22f6d-9eba-40d0-8976-9a4a7caec6f8 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:3a64ba9d-f9ec-49a9-9f00-9ff57f3190a6 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:ed5111a8-6b40-4dcf-97e2-cef4d059b442 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:25e42994-29a8-4746-b430-a849453c035b phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:1a9a3436-c623-433a-8e09-442e29489a50 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:52924c16-3e9e-4cac-b396-e7f79478f757 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:23d001a1-9f06-4ab9-8edb-2beb07ac32ce phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6Y infores:phenopacket-store PMID:9817917 uuid:5ae4c412-670b-40c2-8c9d-604a79a2a781 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:51008723-c674-475c-af40-9554f6c95880 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:d15af94b-f048-4646-a857-5d2b1b56ddc0 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:e3e9ed67-714e-40af-9ef7-cb4563e80013 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:7212df2c-8e4c-4be4-a273-57307c842a93 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:d65026f3-1a01-470b-89bf-339a678f4f09 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:8a0e9c3f-6ab5-457c-b149-fa98fa3e43b0 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:788f6a72-5b23-4ed3-8187-4ea1b7c16f89 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:79b79c94-f163-4ce8-bad9-df26ffbb7bed phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:14d2b9c8-f98b-454c-aebe-5575f315e20f phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:1f55e35f-0850-43df-a43e-61d7866b60f7 phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:47674ac3-b529-4ec4-9971-c1c765b4e8ca phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P7Y infores:phenopacket-store PMID:9817917 uuid:492a7ffb-9e8a-437b-b54d-c25450267f6f phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:665ba96c-ff49-41ac-a6f0-4dc8d42e1641 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:5c27f332-356d-4b69-ba02-09e4fa27d400 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P24Y infores:phenopacket-store PMID:9817917 uuid:1231b258-59e2-457f-a567-58e3fcdc60b9 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:bc3947b4-cfbe-4ffb-9eab-0d4755eb824a phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:ecd099cd-aa8b-4e1e-8305-6bc2509cfa39 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:1cd00d56-21fb-4584-90bb-4fc4e1dd2a7a phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:e7389620-eec3-4bdf-8ae1-799108892229 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:9cded410-309a-4142-8e99-05d89cd62d50 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:3eb8ee45-6780-4b33-a02c-f18f84a84a72 phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:9cab7d6b-08e0-4824-82ed-ae74a069622e phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:d70be261-73b7-46c7-a0d2-69483c4cf9b7 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:288a4da5-5c4d-4475-ae73-bda5b0712869 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:860cd91f-8406-4452-8e7d-47c9a2383302 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:68a90e8a-4aa3-4298-82f4-cbb9ff953df5 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:bd64d68d-3486-4c19-a1c4-45c5dbfa796a phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:c8ca40ac-ec04-4ca8-91f2-0ab52157b0ed phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:fbefc5f6-2bed-4e05-8fa4-80b2c4765a58 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:1888f7ae-3c20-4476-8489-f8ec07e6fb0d phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:03430cdf-91ab-4139-a9b2-19253e35415e phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:bf9ab441-f21c-47d5-b14b-2c9179ff1968 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:00c43988-e83b-4ef5-afb9-5fa63d55dd90 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:9c6b462e-490e-43d3-89e0-c5fc31e1a552 phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:4e250be4-42b4-4082-a3bc-3bd1ab3adff8 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:9817917 uuid:f1b26527-a8f7-464d-884b-384cf02aa055 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:11c3c8b2-d381-4411-a802-137f6380e8ff phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:efd40989-76a2-45c6-946d-a6ade937c163 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:b90ab04f-1fcb-4b25-b450-5c6daf6d1ccd phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:165ea0ae-3fb5-41e0-9250-0da3a7d28fa6 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:38b8e54f-4c06-412c-bf48-10350ab8eb5c phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:c4391516-2fe2-46e4-89a2-0f368fae5c34 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:5d8af031-5d5b-441b-bdad-1bbed0b8fdfb phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:9bf6ef5b-4676-4f6f-a2b0-0ba17a752988 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:40d39754-bcef-4e10-b80d-4b51809c625b phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:e1d928a6-7046-4b8f-8215-b374f75430f8 phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:92e0d18d-729c-457f-ab18-6315ab85673b phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:83f80e0f-4f7d-4603-838a-b074a66dddd3 phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:9cfaf165-70a8-4c9e-bd0e-2333c2106419 phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:55e76446-6df5-4bde-b18d-262e35af1554 phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:2dc7ea84-a5a5-4716-a08c-b0b71b34462e phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:aebe838f-a840-4ade-b535-951624e8418c phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:d160b2e6-4e32-4212-80df-f522b09bad37 phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:df5ae59b-f731-4b2e-9289-2946a34a447c phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:9142d996-5037-459f-b35c-8f911b97588c phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:45a13744-c8ba-44cb-b555-46d45b901b67 phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:f736e924-a39d-4c5d-b526-5f4f2c908a3e phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:421c1bc7-3646-4fca-823e-dc6c242b89ea phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:7fec87a9-0c2a-4097-aec4-4a2cc36c1958 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0000819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:3d3a2429-89cb-4aeb-b97a-7a07c544ee1c phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:9817917 uuid:e4b4f3b9-5ac8-4331-8d44-b4c3c36ae0d8 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P15Y infores:phenopacket-store PMID:9817917 uuid:dcbd63b8-c2ee-4a6f-968c-f5ec28412007 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:d92f5a13-90f2-4b15-8e52-23f59add2c6a phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:9817917 uuid:3208d440-3e74-4576-81d4-d3d0af198bb6 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0000873 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:08dd5fd1-c0c0-4ae9-87d4-5a34b1b9968c phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:27f4b667-7bf0-474b-a78b-afc2c212843d phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:52575109-06a0-4e96-9c49-e7a4260fe03c phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:86068372-86a7-485d-b19d-4b3a81a49c22 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_phenotype HP:0001337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:9817917 uuid:a05bb783-4941-4a7b-ab20-0ca113c1fa15 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_disease OMIM:222300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:7fe81d1b-8875-4f8a-a68a-28bf6af708a4 phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:has_gene HGNC:12762 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:9817917 uuid:8666c3b0-d78a-48fd-a475-d9336fa49642 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0032509 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20Y infores:phenopacket-store PMID:16636245 uuid:b799ef70-71df-4a85-acc7-13a8aa37e0c6 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:d7c24d36-0549-4a32-b1da-fabd8afd504c phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0011096 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:5371f680-9179-4f80-9e50-2585b43811d9 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0003380 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:67991923-ee50-4a76-a9e9-aa6e1a992967 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0006121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:de043105-fdba-4def-933c-58673cba1397 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0007460 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:8e200ff3-f24d-499a-82ab-afb7864516ac phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0002936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:a896c57e-1b0e-4912-a4e8-9d461ea20196 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0007021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:2ddc7387-11a7-4656-a9cf-526d3d63a2a1 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0007078 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:16636245 uuid:0f1411f8-6073-45eb-948f-90f468ca1308 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0000970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16636245 uuid:ebb4e58c-dbaf-4900-ab2a-c9ff4d31b985 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0000975 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16636245 uuid:935b1dc3-48d6-4a9a-8998-5710e1245a04 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_phenotype HP:0003400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:16636245 uuid:dd18a0ff-9c68-479b-9118-532f010ec7d6 phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_disease OMIM:201300 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:16636245 uuid:2fc8e76a-8f64-4991-b51a-fad95a3cecbf phenopacket.store:WNK1.PMID_16636245_Case_report biolink:has_gene HGNC:14540 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:16636245 uuid:a9e96850-5046-4be7-9914-56d07d236cb4 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0003023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:30012084 uuid:fe8e061c-09d0-4c19-8d49-d05b586a6f51 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:30012084 uuid:a2022ee8-73e1-4822-8b87-5f811ba1f268 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y2M infores:phenopacket-store PMID:30012084 uuid:87d39eb0-28b6-4529-b533-5a36a38c6bc0 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0002757 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30012084 uuid:730d52d8-85f7-4cae-bdc6-386df85cff68 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30012084 uuid:e4305c24-ebac-49c0-820e-dd8d938a8d6f phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30012084 uuid:14246d0f-6759-4ea7-b50a-957a8bf59c90 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30012084 uuid:702603a1-9756-4a7d-b019-2ad0af4402a2 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0001788 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30012084 uuid:7d6ba279-e929-4526-a83d-939f3ab204af phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30012084 uuid:562e63fb-a89e-456b-bcd2-f21f44905668 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30012084 uuid:4b79a651-c924-4a51-bcdf-674c49c4e570 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0000592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30012084 uuid:80d731b8-1cc4-4690-96b5-d5c716fdef27 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_phenotype HP:0000703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30012084 uuid:83e1c7fc-4a0c-4179-8202-bec7337660fb phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_disease OMIM:615220 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30012084 uuid:d6ae643c-50ca-4e84-bd86-b309e9341d38 phenopacket.store:WNT1.PMID_30012084_older_sister biolink:has_gene HGNC:12774 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30012084 uuid:e7f07c9d-2f13-4ec7-ad93-dac33ea164a6 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3208532f-8139-4931-b0ea-4391db941167 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:897450aa-b584-477b-a93f-553f811e99e7 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:0217024d-efa8-4000-8b48-12d1ec64a78f phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5a73a97e-71d5-413c-9f4d-b46ba846f535 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9615ca2a-1e39-4983-aaf7-d3c2dd19f056 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:b6f05914-2138-439e-bac5-597fdcfb17eb phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9633e0e8-9074-4532-9d6e-18ee227a1693 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:62f1732d-0e07-4b4e-b9cb-cfd059e6af87 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:afe82d50-41dd-45b9-b99b-17be7290b92a phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:dfebf331-9152-49a9-9a53-3922e96e394f phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:71ef610f-6ddc-43fb-8b09-5aecee09faac phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:64e011ac-63aa-4f27-858d-e204f6a9fbb7 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5eb59dcb-9d2c-493c-bd4f-d3397f53bfeb phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:10a675ac-25ab-4041-96df-bf860fcf6239 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8e786b7d-875e-4f13-807d-572df4269890 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f6ed3b16-241e-4112-a1c6-ce7518bbdcf8 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f3228e47-f435-46ee-a02a-22edf425290a phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3533f04f-3670-4886-83d1-0bfb81553156 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:aa06fe1b-4875-4951-bc3c-f014c66a735b phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f0a889e9-c2f7-4694-a245-505e511444c2 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1a5c3f90-e0a8-4c20-b501-94f10a763b7e phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8a1a55e6-ecb4-410e-99d5-f53d57d3cc8d phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:eec388da-e760-4678-aca7-6380ef26fa3e phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c99c0593-f679-45b0-9adc-cdb0ec944ec8 phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:67df2f03-810b-49ce-b0d5-a9374f34182f phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P20D infores:phenopacket-store PMID:30356099 uuid:4d30d31d-ffbb-4b37-885a-67de50e8f22d phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:17c3171b-398c-4ff8-b068-f6eddec64699 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27495153 uuid:1c14c516-2b88-409d-9ee4-81e3da457bdf phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27495153 uuid:4b522e48-5863-471f-a05c-8fcdf54e7559 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27495153 uuid:985be8dc-1ccd-4636-a30c-5ea1a104aca5 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y4M infores:phenopacket-store PMID:27495153 uuid:cd07f1b7-6bd6-4b60-8706-f7b9f2ed7eba phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y6M infores:phenopacket-store PMID:27495153 uuid:5b96a472-e41d-4384-a3c1-53bf5cb379a9 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:2e3aef80-20f4-4780-82c3-ce2315d6890a phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:33a84d82-2347-4b11-9c98-9d2444dbf8a8 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:32f9c0d5-cd53-43e0-952a-d7e1b318ec47 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:268aa003-eca0-4497-9c9a-ec6c2752b629 phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:27495153 uuid:a5458bb4-e5f1-4ba3-90ea-d43297610aca phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1M18D infores:phenopacket-store PMID:27495153 uuid:b722a915-fa44-48e2-8681-94cd7c4a2d9c phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27495153 uuid:dd963445-129f-4cb3-ba69-d88b3bf6e2f1 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:99b19463-f0b3-404d-8d05-1844a2eb9e8d phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:0b898458-6463-4cd6-91bf-880be0a77c98 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:76c306ea-96b6-49c1-9392-f84bf167b7a3 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:71aeb9a5-1309-43a7-950e-272c2ed32d83 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:6d760f8c-a3c0-4539-bb63-784d12abb95f phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:5564c9f6-1f21-4373-aa49-d5e7aaf59ee1 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:f33c8954-d319-44b8-97d3-1fe17add684d phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:b7e00c3b-b31c-499f-b472-72569af5a2fa phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:3ccadfe6-04f6-46c7-bdec-c3c39991275d phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:7c8ff967-1371-45ad-bd35-f67b3427f16c phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:ad12fa29-c932-4df9-98af-314f7324ccaa phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:8d6e6a44-4651-4e6a-a5ec-059ab96aabde phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:8dd2a59d-240e-466d-9440-78635a792f95 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:d0de132b-e5e3-4da5-a0bc-313d6c491a9e phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:e804d0db-6d5c-4542-96d7-44d46f4f2259 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:f0cf3f9c-9b3c-4c3c-8f52-20cb77bec9ff phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:a36a5a2a-e29c-4d44-9560-06984d2b6558 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ebdc187a-ecc3-4b7a-80e6-d2502a8449c2 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ca4bd292-daae-49bf-bf26-07cfefc016bb phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:22d705b1-d7a3-4427-9497-faa500227b46 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:5e5df990-f07e-4fac-8791-0d0ee66176a9 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:93e1cb98-dd0a-4cf1-a78f-954b8b760295 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:8cf5873b-8adc-4685-b5a6-703eea9b79c2 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:03a13b67-a800-40f9-a503-87a375905919 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:b59bdaee-e7e0-4e55-85a0-a51f7f79c79c phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:7101e1d6-fa28-4432-9c96-ff106e4180e1 phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:665018b2-41c3-40f6-b51f-6118578b2f8c phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:b674adb7-1bea-4032-80a7-9851797875ff phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:44922e65-2150-4217-bbc2-c7b686cdc007 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:4c2f3b3e-382b-4731-8377-68d1c10171ea phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:14d638a3-5d76-43ad-88fe-28af3ab7668d phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:354de0c9-e3c7-4fb3-828f-3e31b47bf34c phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:95847bcb-d1dd-44fd-a909-f4d2c08ceac9 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:795de812-f7bd-4927-8863-55d98aa8fbbd phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:8d2bf620-4211-416d-accb-2a4cc16055bc phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:5cff61bd-a4f4-43e0-960f-96ea11bc7379 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:be5759ef-7430-4b63-8489-f24de36d50d8 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:b1a69926-16a3-4854-84f7-0b0f97e3d7be phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:1742bc89-330c-411a-9a0f-7522aa08510b phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:1a7ac55e-b095-4098-95ab-ec0df0ebf301 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:6540ecda-3169-427c-8f45-c9cb2a952cac phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:de492475-4048-4fd7-87a9-cf35a39dcd3d phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ff4c6c39-b2d0-4be5-9c26-18cbc8cab809 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:c44b662b-1569-440c-bf42-6b6dbd6e8ea4 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:d19b12e2-50e2-408f-90c4-47e852647da5 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:0a114c0c-e9fe-4296-baaa-af66d888a076 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:53887004-47eb-4c08-97bc-5296789f99bd phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:124fcb7f-50e3-4948-ab96-6ae38c0dca0f phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ac7634bc-42fe-43c7-a424-4306cebc3066 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:9f2f3035-20ac-4ac1-b787-2fda7a718ed1 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:5fef2de4-9948-4fb3-ac69-86638ba9e89a phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:3cd8ed3d-613e-45df-a5a3-ef5cbcef678a phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:0502978a-b484-4831-abcb-a8c96c788770 phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:5482bcfa-9f40-40ff-8e4f-22fa633f123a phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:76480d18-4f4d-4302-a588-7283a23c8b11 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ac6675fb-fecb-4315-9e3a-f1b78f65b25f phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:d1cef989-067f-4b71-9d2c-ff2c02edfcfa phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4e519f2e-2535-4af6-b981-fc771db20e3b phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:2f73c9af-469d-4fb0-95a3-94ad452f2f55 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:f4f96bf8-0030-4546-81ee-e7bad198148f phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:d363651d-2e6b-4b89-a089-176407e3fabf phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:abb43ce9-04f5-4cdb-9deb-5d4cc95712cb phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0c0b3600-2163-4868-b930-fa3e477d8259 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b6916966-7967-4abd-b12e-a95ea496c212 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0d4217ff-e510-42b0-b006-184d08876f41 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b729b284-2c69-4c15-a989-67910fca7ca2 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0db03a8a-b66a-47ee-bc12-0b04726f1214 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2d8a8262-09e1-4e56-9eb0-277eeae020db phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7d20e30d-e387-4b8f-bcc8-c1ecc0cfb64c phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:068c605c-8885-4829-abc8-89028d99ddbe phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:67ea86a2-920b-4b77-86a3-851232fa3f08 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:82872e5d-e804-4b3a-8f57-6a27f2892d82 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:797e1f54-c2e8-47d7-914c-886170065d65 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b7159589-0837-4de3-b345-752b8198dd53 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9c7da107-f455-4417-8195-945bf59411d6 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:748cc3e1-56c8-43e8-b895-87aaaf3b1102 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7fda6796-3189-43e3-af77-acdd93b049d3 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8fa0488e-9947-43ae-ac9e-1f8d3557f8d9 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:76c9f79c-19d2-45a4-8d1a-acefa31a196f phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3825ad46-f673-4e5c-a826-a98093d77d70 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P5D infores:phenopacket-store PMID:30356099 uuid:3409fb5f-cdca-4301-9863-d7fcb6b52899 phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:4d3683f9-af23-4354-945b-fb4d0f2f1c88 phenopacket.store:WWOX.PMID_39416860_proband biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:39416860 uuid:6acf8762-62bf-43f1-bc8f-91cc862365f0 phenopacket.store:WWOX.PMID_39416860_proband biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:39416860 uuid:e34bd20f-36ae-4d52-8669-779bc8b6cbbf phenopacket.store:WWOX.PMID_39416860_proband biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M infores:phenopacket-store PMID:39416860 uuid:1dd3a88b-1c21-4fd2-a29c-a6abd8df2371 phenopacket.store:WWOX.PMID_39416860_proband biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39416860 uuid:5f0a3e5d-4b72-4de0-a7ef-2861e1c705bf phenopacket.store:WWOX.PMID_39416860_proband biolink:has_phenotype HP:0001655 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39416860 uuid:852e2038-f5a3-443d-9bb9-2e8170f02719 phenopacket.store:WWOX.PMID_39416860_proband biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:39416860 uuid:a7681788-0891-466e-a2a5-9dee38c40a03 phenopacket.store:WWOX.PMID_39416860_proband biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39416860 uuid:88e8553f-47d3-4679-bf3f-5b647b3c2270 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:fe33e0d9-393b-4e37-90af-97c82169defb phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:6dd53b79-0332-42b4-ba73-c66eaab53858 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:7e5da944-0f8c-49fb-ae6f-2ac83bc083d2 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:6b5981ed-5503-4b65-9dc0-60bd255e772d phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:32ed7568-0932-4c22-9605-353f4e3f0e82 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:414d18a6-b264-4a30-b270-08bcdeeb799a phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:913eaa2e-d969-4e3f-bbf5-204580968329 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:907de206-eb8d-45b2-967f-590d67cd6cd3 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:65c7dc0d-8a00-45a4-a700-9f36a712e589 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:e27c0f9b-8ca6-4d0b-bf80-8f584cfb1321 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ebc780e1-344b-4477-84df-4ae183cbfa56 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:e5c345de-3497-4d74-a25c-c0ee609ce2a8 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:2ae7ef6c-88e1-4228-81f9-ccd7e28e591d phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:dbdddf79-9ca4-4f21-8904-9b0e19950bdb phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:1a853a55-293e-4a3b-af1e-983791537e8c phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:9c6aae28-0858-454c-91a5-07f3c6075c1d phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:643846e3-1bfe-4d84-a998-5476d3d89784 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:cbc03aca-2c1c-4528-b695-8d379c4e7c82 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:d13c8c01-a5f0-4d7f-838a-3d3319ab17ca phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:8ddd35fd-be54-4023-9e7d-41917a80410b phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:2d8546c2-592b-4d82-a617-8f9630cb4a20 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:dd7729ea-fea1-4f35-89b0-b1eb44297206 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:7a854707-77dd-463e-b806-4a80de68fb1f phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:676cd653-b122-49ee-8bab-3cc359a62e46 phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:43898fb3-ba83-4682-8722-244b749e0ede phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:f923adeb-0266-4501-a4b0-b77b7f18893f phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:c4214cda-c429-4735-a72a-186ed315f65a phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:575807be-93f1-468f-987b-8a3711928bf8 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:087a16a8-f00e-45c7-976f-02a1a892f396 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:d0c1a805-977c-4581-a8a8-986b4019553c phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:b23ba80b-9543-40f7-b12c-7dc4798f6d33 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:9785760b-8cd3-4653-af69-fac0dd611245 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:1b29cd6d-6b95-45ca-9b42-62498e207121 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:9a10f474-5891-426d-9f64-f45c72f5ede7 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:118e1ced-ce4f-4acc-8fa2-52929de7e4a8 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:9f163229-8a35-48dd-9c62-a7bd25fe532a phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:2e451ece-4fd6-489d-8994-dc13a34360a1 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:438bb594-e678-4678-a07b-2935198ebaa5 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:d7201071-8140-4bc9-b6ba-aa2b379686a5 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:acb8dcb1-ff6e-4dd0-a3dd-3671fcbd6309 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:cf403eaa-2a6c-4d56-bbaa-f92fc9edca83 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:6f0b8e38-a06e-49de-a8a6-2d6b7d90b785 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:9023b400-a200-45f5-a3ac-08ad8de59dfe phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:5c67a78d-7da5-468a-b0b4-52de9104d6c3 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:48c2f8af-45ff-4d33-88eb-a4db6ab5c525 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:66c0694e-539c-4a52-844b-ee27411620b3 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:9b313a23-5f2a-40dc-a22e-7d62d5608f58 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:45bb5c18-8d94-4047-b901-4daec7fee6f3 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:f913228a-de61-48e5-82da-06595052b7e3 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:c7b13ccb-71e2-4b68-a51f-24e8cd3a9cef phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:826498e9-5cf5-4b0a-a574-26cb1f0ebd10 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:b2e89503-e7a6-4e24-8e32-5d4a1d899b0e phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:876951f2-2667-47af-8183-72213d648f68 phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:688a0722-02ff-47f0-963b-a53bc1725e56 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:80c3c6d2-d298-4ff9-b6f3-3bf43508b8f0 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:62334e49-22de-46b4-9d17-3b25ee7979cf phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:22ff6a6f-0847-4151-ac56-67f1f3a98396 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:2d14d799-d058-4aef-addb-7c926583c5ff phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:129c8259-30ba-411f-877d-e02ee124a972 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:103fefa1-83fa-4bc1-ad1a-58dc01060253 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5580a5fc-25f4-4916-8422-cec5c3d6a39c phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:935b4eb4-9e29-45ad-b407-68f6aa5e362b phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:f2de61dc-ec5f-4b2a-b711-bb656c8c24a7 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:f92b4e9c-d871-4d9d-ad2e-0d4689eb8923 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e75b88fd-02e9-4eef-8e99-7b7b582c28bf phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:00937bb5-9928-4d51-b8d8-73c5156db9d9 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:a6e72420-45ba-4132-993b-5d83608bf332 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c3d1a54f-a9e2-497f-8e5c-76f5e90b1e89 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:1151ba78-0530-4a27-8b0b-f371c96ec826 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a15d9a6e-df57-41c8-8902-579aab08e014 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e347fe60-acaa-4dfe-81f2-cb33df6a781d phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:be346b42-d5a3-4706-acc1-2505d172dd2a phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f2866ac6-1842-4626-b126-9b2978e7adc8 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f57af3cb-d45c-41c4-a0d4-2a8cd5bcb729 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4c1dfc05-5f07-4936-9325-ea828d08f813 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c5b588c1-18c1-4043-af25-6dc789f5b3f2 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:da875a82-eef5-4dc8-8061-dfa2416ebb7f phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bfea6771-e170-40ae-8691-24f8e970fe72 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a6e980b0-8ab5-4bd9-836a-d8d6f93e76a2 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30356099 uuid:d753a6ff-2944-4c83-9b7d-31b676250668 phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:7fe3e1e9-4785-4cf1-9a5c-a5b543a4db2e phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:39101447 uuid:28f693a7-ee0a-4eb1-990f-e3b9e2b02ab3 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8M infores:phenopacket-store PMID:39101447 uuid:14508cf2-8965-4052-90ca-a53a1fd9c7e0 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0007359 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P19D infores:phenopacket-store PMID:39101447 uuid:03f4c205-ab03-42df-b40d-42ee08e6e806 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:97e0f75d-8302-4f67-97d7-243a1e32f874 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0002194 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:eed87685-e14f-4c7c-b28c-fcceaf6b8694 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:02e43fab-f1f0-4e6a-bbda-cdb0e1ff05ae phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:24a17d08-d0c3-43fa-b4f8-9591c6957d57 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:ec000b5f-b465-4da1-81bb-f86d77818a8c phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:3c381b17-cdff-4e2c-8028-995cc782d8c5 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:6401441a-4248-4458-98d0-4d4fc87fb57a phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0000445 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:387914d8-d149-4353-be5f-46407e2afbad phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39101447 uuid:53dcc747-92a7-4c82-b14c-754eaeb61724 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39101447 uuid:e10f39c3-63e2-41fd-b45d-245680ebbe88 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39101447 uuid:1cef3e22-de75-4248-a1db-890b7473a413 phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39101447 uuid:ce928a29-3e61-44db-9f43-1beed10e9c8d phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2M infores:phenopacket-store PMID:30094525 uuid:215d5b33-8d7e-4512-a84a-c2731b277dce phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:30094525 uuid:68878f46-9424-420a-8f4b-d09b9f77092d phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30094525 uuid:94ab8626-bd66-4028-a86f-8fdf8eb6003d phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0034353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30094525 uuid:8a287e6a-670e-4d2d-a607-8e815bc12477 phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30094525 uuid:5f5a3210-c678-447e-a3a0-04116c88a069 phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30094525 uuid:c7551862-eda2-4e65-a44f-cd95b4494222 phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30094525 uuid:5cbe49fe-1192-46b8-a294-7cea5a839e68 phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30094525 uuid:d71ddae5-c9c0-4167-8552-d4ff47019bce phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30094525 uuid:56896621-3ef5-4bcc-8546-d11c079f253f phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30094525 uuid:896d02f4-ef44-47e2-bfc2-cbe8f31f5ac5 phenopacket.store:WWOX.PMID_30094525_Case_report biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30094525 uuid:d7a81ccd-47fe-4218-9298-e2b65bfba3d0 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:140d230a-63a7-47ac-aff1-e450f3ba340f phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:98cb9e96-b0b4-4416-bd24-5635ba1695cc phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:432ccc1d-2778-4006-93c6-72cf810f622e phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6875837d-b415-4ba0-8307-135c345752be phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:589e34ae-e28d-4d4f-8cab-1e5b9c6ae256 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:2475edc5-1cd0-42b3-97ef-0ee7134cfb21 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:27f72439-4f10-4aeb-9a4a-25d123224c5d phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4ba36533-248a-4186-9eb9-d070bd176403 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:dbbe7cee-4e95-4402-9965-1b0dd8fe8b2c phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4515f43b-9a04-4c50-98ee-4335ee7873e0 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:fdea5c90-fca5-4aa4-852b-eb6a362793f2 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:99f3d2d8-f5da-4c3d-bdc8-8f8a4d48d927 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e9866efa-a89f-4e4b-8da0-534cfce26ce9 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e4887c55-d409-4f84-9279-fa47493dd45f phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:87a740ec-f3cd-4ffd-80c3-df1d8a977c50 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5c8860a9-aca6-4470-b140-bd279565e185 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ed999728-b1df-4efa-b298-4a5971bf560f phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f7df317b-ffd5-48cc-a67b-a400de345397 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5765d5cd-6aac-46ed-9bea-00b6cfb6875f phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1cbd5ac6-394b-453a-8059-726b13967fef phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0dd3d651-ef29-4bc6-9e5b-cb4e6fdc5bcf phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:564bec38-0264-4193-82e8-d7f1fd2addc4 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b3d39ba7-1344-4c4c-ab28-c4270b3dabe4 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d5dec18b-ec79-4700-892e-3aae594bf0ae phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3d665fcc-baab-4693-8563-b8da97bb304f phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:fff5a888-e4e2-448f-a41d-4f53e0053e02 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30356099 uuid:b7c902bc-db28-4d1a-b6f1-50ba8d155366 phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:6542df5a-31fd-49f6-8c47-5a7c14b45dc7 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0032792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1Y infores:phenopacket-store PMID:39507621 uuid:2b382aec-174b-4343-9939-b2bb5100b9fb phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:39507621 uuid:0806f9d9-bca3-480e-af5c-7d9dbb730143 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:39507621 uuid:9ad3341e-9714-4d1b-bd54-25597d34986a phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0002376 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P12Y infores:phenopacket-store PMID:39507621 uuid:9d8807ed-8f02-46db-a0a2-7cdd876797db phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0011173 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:6f9c2364-5db5-41a4-bfc0-f21a6e106a25 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0032755 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:50308d2c-5f21-4615-b410-0a3a1ccb2f83 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0032794 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:2d73ca0a-a04b-481a-9eac-61f94a690a0a phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:08ac92c6-a809-4d89-a3bb-b88f9fdb84fd phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0002273 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:1ee9506f-6714-4c71-a117-33d50b7b8a10 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:2ac2132f-bde2-4e87-a730-a4d14eff27d2 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0011448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:11ee8cdf-1f75-433f-921b-f989f781def6 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:b465458d-8e7b-4614-8d13-d71e839b9191 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:9be0d5c8-0272-433e-aa8b-e3308fc7e203 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:e57af120-0d0d-4905-aa02-1e4dcd5e7755 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:86c6b422-64cd-4ef7-95e0-4a0f0c6cf64e phenopacket.store:WWOX.PMID_39507621_patient biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39507621 uuid:29d39129-0a35-412d-8d08-83b3d8dd4fda phenopacket.store:WWOX.PMID_39507621_patient biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:39507621 uuid:32d23b8c-0bb8-4eb3-8e5c-005eab69bf49 phenopacket.store:WWOX.PMID_39507621_patient biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39507621 uuid:71e2f18d-7bb8-487e-8f1d-a98eb8f1bbdd phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:eb717b9f-ebaa-4b48-82d6-90987bd34f30 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cdcf1059-ef72-4655-bd20-1d937c9bab9c phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:699f12db-dc09-4638-9dc6-a523a000b4b9 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f83e0e4b-4f7a-489c-8c2e-c68586dcdf2c phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2f852a47-0b70-4d53-81ba-13f30815a45a phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:35392c97-2c08-4a78-86f0-ee675b0d8578 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f4ddce1f-fada-4074-8776-a6b63e11b563 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7442bc4c-910b-4c97-b733-9e5192ab83c5 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d8b664c5-a086-4979-9e2b-76ee73f5278b phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ec0c2de5-e5bc-4c3c-b74b-08c54c3aad08 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0074d7bd-d7f7-4e6c-af13-4cd787de452b phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0218b654-3355-40fc-a821-639e1969a87e phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:54434c0f-69af-421b-bfb0-73d413dba166 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2813138e-0cdd-4bb8-8d6a-52d413594e82 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c8f60283-528e-428a-8be3-9cb26a74cb8b phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c6cd1594-6fc4-493c-b537-8c29c8a9b088 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6ae43103-49e7-4a55-9b61-27975fd489fa phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:369de1aa-6c9d-43ac-a1e1-2fade582fb8d phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:edc6e8e6-9ade-47d3-b59d-8234bbde87c2 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6beda811-cf91-4840-9862-aa5e8f6d9948 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:541ae1c5-dd24-44de-af4a-871c3a8582e5 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8486a2ad-aa63-4ea9-a6f8-6b6540f5e459 phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P11W infores:phenopacket-store PMID:30356099 uuid:2e273589-9da5-4d98-a006-6ef5d94b1e2b phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:c4f6837c-c2fe-40e7-92bb-fc22aa5611a0 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:c64d572d-fbd1-48ad-8a21-3224193f64d2 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:1c09835f-5e6e-4710-a4af-a30485ab1640 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:f185f9ca-91fa-4067-9e24-d8b9f6a06dd9 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:b5b9ad48-6ead-459c-bfde-e1ab48481f09 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:8b309cc1-badf-4afc-ac1d-6b681f2066f3 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:eaff63de-9299-42db-a173-ece801182090 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:ce28224d-d3f3-4835-86ba-1de58a8d33ad phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:1dc01dd7-35a5-4869-8757-50587fffd815 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:ff3c610e-d866-44e8-bf59-99fd47d7d98c phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:289f8d18-32c8-4a28-8cfd-bbb70f8f616c phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:61f82256-4640-423a-8941-b8592a0ecce5 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:b342e632-1df5-47c8-b851-424dfc6d0084 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:df7c02da-4fcd-40af-b7ae-fc933f51b0e2 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:bf84f949-4ad7-4421-b1c1-6dc13574dcb5 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:8671be79-d1af-4945-82d8-4139e183e56b phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:81b75bea-c7fc-46b1-9b47-5a548228143e phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:54046cb4-f999-4140-b941-643d47dae3eb phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:4765e26d-b8db-4620-aa85-5eb62b242a8a phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:c159a32d-1339-47ff-a8fd-0665aaf4a8df phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:b2cf7d73-dbcb-4068-a359-56e61ff2e501 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ce949e09-3669-4a27-bad3-5a90f66ffbf8 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:765742cd-9005-4d45-b6a4-ec5b2674f175 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:9cc2d307-32e6-4cbf-841a-e8a3b72ad587 phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:1b836ef6-701b-477c-8dd0-3e6b6b694f66 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5b47e03e-fbb5-4f6a-8312-25361f4e7968 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:863f4531-9e17-4033-a70f-dd928ff2e20e phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:59a2c914-3ffa-48fb-91ec-33105ded471c phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:f441a136-ede0-4d51-9a4b-6813b9266d5f phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5ba74b9e-4de6-48c5-b9ca-67064ab3033b phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:84f6aac4-6765-4771-97d2-128221f53ea6 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5ab4beb0-5857-4297-9fe5-4db75ab3f2f4 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c050b574-aefb-4d01-9a79-bf68dfd2f5a8 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d6c34be8-301a-4696-9394-a9af3f509801 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:eaea4697-d089-42e3-9063-dd044fbe498a phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0324d827-a9bf-4ca1-9fd2-38e5231886aa phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f164368a-ae70-4248-8c7c-6c581b2cdb5e phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a7566f20-db35-4854-9e50-4fffb5c6477b phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:50f5f409-3300-4278-99c6-499f4605329c phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9d509c41-ddf1-4b3c-abdd-be1e361c9642 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1991e5a5-f6b1-47bb-8e7f-8898023144c9 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:55c9f71b-a1b6-47f8-a5e7-920f9caf3c8f phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b048b170-eed4-4960-bb43-23892ecec65e phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:12df38ae-b42d-47cd-86f0-0fa35efe1e8f phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1fc12b59-3f7c-4372-b35c-9e646e5428ee phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:34e1a1ee-d257-4f28-a97f-8a121b276b69 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a2a3f633-724b-4401-bcc8-dc3429cd2b7d phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:142635d3-d1c8-4a63-9e0c-75634cd4fd18 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:98150d08-6e92-4def-964e-e1bf65890c88 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30356099 uuid:3b2ae9da-9fce-4fe1-b468-b76e58d5d2e2 phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:2de0fc4c-b56b-4936-ab5a-d900808b1dcc phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:a7fa4d04-542e-4978-ae5e-fdf0d21519b7 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:aff6e97b-a9c1-4647-9662-c9590c93df8e phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7d3f165d-3e09-4ce4-8329-17af34e5fd7e phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:65026a69-ad54-4f35-84c0-ac5d2c731999 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:d76bb5aa-d9d6-4159-b6dc-de06fee842d7 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7a70d731-b22e-49dd-8def-edcb3ee55a1a phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3c1330fd-2667-49f5-954d-4c7961a2d486 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5e69bd10-eb40-44d2-b247-6b8da8db8b09 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c24a2b92-323e-4814-b678-c3496a2964fa phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:958f2ec2-bcea-4a7d-971e-377c08dd50e1 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7aa1356f-fa0d-4068-8cef-ce7bea930a26 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:60293130-e91b-418f-960a-3823be0ebe7c phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:72cd0072-8900-4910-9b47-e21e8b1efba4 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:eff9c513-27b4-45e3-8618-af79167a3d7d phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:59d82f01-c9b8-4a00-95ec-7cafb5649010 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5e5e02ed-0864-4b3b-88db-575f5ada5d04 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d895496b-8b24-42dd-862e-d4c77d8ec5cf phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:79e9d731-9c95-4242-9a7b-8e5f1195d4cc phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:82289610-fa3c-4d1e-8272-1b637ec18a8b phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a6b08637-41fe-4b36-8599-6b7e926a2715 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9666b671-2a07-4768-b253-58d5fcb70f18 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a41825df-fdc0-4173-b516-a0f0595eeda1 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9cb783b6-8431-4a37-8c3b-d41db379cc60 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:220f5b7c-92c4-4524-9661-c4c2a336c370 phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:eed12fe5-1b4a-437b-9e7b-416bd04403a4 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:c8626f48-dbe0-4e0c-a026-745d7ff191b3 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:571fb3f8-567b-47f3-bff1-c5141adac616 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:d8718d80-5ad6-4bae-ab69-cf8326c88814 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:1ab7bbcf-ac7f-4c5f-b38c-92509a1beb08 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:2037168b-31a1-4645-865e-f38d99dbf39f phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:ad98dd12-4cc7-49e2-b8cc-8979fb4d0b36 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:1de81800-986e-40a5-bfc5-7081e6f23d49 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:d3325981-7c61-4f67-a7aa-d57ed339a260 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:14f550f5-61fd-4da6-bf83-31ca4f796046 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24369382 uuid:41621d46-a66f-4b1c-bf26-cc871a6600d4 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_disease OMIM:614322 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:24369382 uuid:59d44b60-4539-4344-85e2-25a81dc5e6d1 phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:ad942b64-778e-46da-8812-558a8faad12d phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:fed27c1a-f643-41af-a3a4-f220b0cafbb3 phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:5cd7f07a-4003-4ffb-acdc-64c3eedaa5da phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:80504db6-dcc2-4303-9acc-be142c31f71f phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:7770bd6a-a342-44e0-8588-92117ad515d8 phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:16b43c44-4d0c-4c58-9795-63f3a940c928 phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:149bb6da-3d4a-42d8-9fa9-2dd0bd1ecd6a phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:1f8c7ebf-ff11-418e-9732-38ea9bc16482 phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_disease OMIM:614322 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:a8084051-6ebe-48b4-88cc-a1f39f4e0069 phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:abd412fa-76db-4b43-ad91-40df625e2981 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:47491eb8-e609-4922-9ebb-f29783bd6455 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7810ac8c-dc32-4ced-a3f3-d75adbae84c2 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:2b71a3de-bc1b-4a2c-80c0-f0da6072999a phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3bce9522-699f-4973-b29a-6b754b8fac10 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:0c9d15c3-6f1b-435a-8693-f66c460c1335 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:77ef12a4-13de-45e8-ad1b-5a8c7ddf931c phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9989efc9-4552-420e-b8ec-ea148d97b784 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6bc05e55-bb15-4111-80d2-9d60e4f2144a phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0a4339a3-2e4a-4f32-acb4-3c3087b40192 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5689ca5f-7822-4d7f-8d62-99c82454f797 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bccc8c03-aed5-40c6-aefa-7c7a97aa26f7 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:303512c4-a333-41af-b15f-7d28aa42e599 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9a774afc-06f4-46bb-9f1b-aa2f43259218 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:089a5d37-2cb0-4cb7-ad9f-ca205c12d861 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e12389db-76f0-4999-b2fe-b9e5a8ed6a0a phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e995ffcd-045d-4433-b45c-21ea1597f019 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:31843cf7-ffbc-481d-b2fd-02cec2c2918a phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3cea6fbb-dba1-4f18-83b1-f5d3eb8e7734 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a406215b-570f-475b-8f3f-1c05614e47f2 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3250b5fc-299e-41ee-b9be-eb392fb88aab phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f98b50bb-d668-4f7a-8c9b-7a4f534c4723 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c2287384-14b6-4f13-97d4-8e731e3b9985 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:43eea539-1dc8-447d-98da-ac347d8fe457 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e9a063e9-e32e-4cd0-a7c7-ee4731eebf32 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:790eb590-d83d-4b05-8186-ddc9c9ed0e30 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1D infores:phenopacket-store PMID:30356099 uuid:e4822f1a-9c3d-4691-8d99-53eb46463533 phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:46ea07be-fad4-44c8-a13c-3bd5aa65c402 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:da4b290a-3693-44f9-b3ca-021f11fbaabf phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:d03f9828-22c9-47c2-b1ad-2cd3a3940225 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6ca94994-6d20-4ade-b4bc-bb86bcf0e9cf phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6988ce87-0501-4ada-94aa-0dcac4940249 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7ca85406-b782-4baa-9a0b-d50c21986ff8 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4e20772c-ee31-4f5c-b65e-61e7977e03eb phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c6e24c37-68ae-4886-8614-a4f2a3617821 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b1e4e39b-470d-47af-a5c7-045aa48152d3 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1abae101-089f-487f-ad64-10751563351d phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2f5f0a0f-87a3-482f-8b30-a7b02dbda237 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e8e5050b-321c-40a2-89d3-3e09512fc31e phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:59abc402-389d-45e4-9e59-361086f8df31 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:23b1d088-2ecc-4fb5-99ef-079bcbeeaf82 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:52e4178b-1adc-433a-a0c3-7e53d4b00d33 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:034a7e96-6c28-4b76-845d-061692945984 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2ff1dbcd-9e02-4b14-a9da-f4e8c7c9157e phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c3ed5891-a848-4a74-9d21-15ef813d118c phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c430738c-b642-49da-a2b2-9788b719058b phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2d98bd20-b526-4cc8-af2f-35d255438975 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d493ddbb-960a-49ae-a011-700e8925079f phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:82036850-e66f-4cfe-bc11-fb49ae2e83b8 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:18ec3886-0289-4544-95be-f458710b858d phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7e3b609d-f242-4fab-b8df-4007ce6b1deb phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4414bb9b-54b3-47c5-859c-f5405d317faa phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5569bf03-ac06-4003-a2c0-9ac96683104e phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3292421b-222b-4819-9c3f-b53a17b20a18 phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P7M infores:phenopacket-store PMID:30356099 uuid:ad7c204e-86ca-4c95-bf13-8016492fc77e phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:a4bdcf3a-32d9-4c19-bd1c-5770401f14fd phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6e3dcaec-5e45-4da5-8d28-39dcbc343289 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ddcdc4df-87e4-49f6-9de2-f345fd0c7d50 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3bdb5764-495c-4b0b-9318-07ceafd6cd5b phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:d25f1f39-eb83-4295-b440-5c72402071c1 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c2ffd774-97f5-4a73-bef5-d68a2b72abea phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:dff87611-9315-48c3-8139-56c893043e13 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c084e23f-18eb-464f-8e39-47b1256308bb phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:75a539e6-a1fc-4ca1-833e-5d11bf0f6430 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:2340716a-7cc1-4dcb-8857-5f9d61dcfb4b phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:33108ff2-4336-41d5-83b5-687ae003fa6f phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:54fec8bf-7808-4010-8cba-8138a68a16d2 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3969c186-6751-4708-9638-361a86840a81 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7c62fe3c-92e8-4b20-be99-de7c714a3658 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:b8a6d722-9e21-487b-a18f-7909ef5c94fc phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bbcbfa38-b705-4901-9dc6-ec6ed6d124e6 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6de0734c-b5c9-4492-859b-519d512c2c81 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a521c27c-9811-4337-bcc2-047a76e03648 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b28fbe44-8471-4274-b219-c370ba17fae2 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4b23d7b5-71b1-4068-9e3c-c272508286d1 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0e4a941a-2778-4c20-b4dd-943f2bdddce5 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:04a3ccdc-fe74-43a6-9158-dbe9cd8946d9 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a8024b02-8ed0-4f03-90a8-142c414cbf77 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d0b0cec1-00a5-45df-82d7-d5770f173bcf phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d5cff94d-e93c-41f7-87c4-aa64c8f70766 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:503380a7-f577-431c-a968-65a164e24bf4 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e646b93f-bcf1-4107-8b9a-f6cde8e4d433 phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P7W infores:phenopacket-store PMID:30356099 uuid:e16e873b-7f3d-485c-bd74-c0f499c177cc phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:6255a441-9774-48b2-8983-eda2cc2fa168 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:4e00af71-6d3e-4e06-982d-7b47f9d89607 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:5cbc9fd3-25c7-4708-8aae-8f38ae810a4e phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:a81fac4c-3099-4b93-830e-5ff423f1725a phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:ed85d2ce-cb36-4e83-b5e6-3ed99d914559 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:e5e0e35d-a229-494d-ab70-1a622128256c phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:2e52a49c-129d-44bc-bf60-acc7cece70c5 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:1ad8c522-191d-4744-8f05-0209ce29111f phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:a5c5025e-c379-441b-841e-8ff6c0a9c69d phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:d352be34-5330-47c2-880c-1937c0a4dda6 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002063 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:79226762-b302-4a81-a8a6-62cf0379be94 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:1770b0b0-6973-4f77-a6b9-ec466f72c524 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:818ff47d-a505-4c8f-8db4-16e0035850ed phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:24f9ffec-1cf8-4c87-b435-1478b3fcfe89 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0033258 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25411445 uuid:8c7a45a5-9a4b-4783-954a-cc1d3d98bb2d phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:b08089f5-4edd-4f50-8c9c-56a71193c484 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0000546 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:766a1363-b0c1-4e0e-9ab9-aaacf551223f phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:cbbd8c2c-4c9f-4ad3-ac05-09ddc48e1fc0 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:4fff40c3-acfc-4f09-8758-1c8b6d825b37 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:5334c9a4-041d-4ee9-b3b1-7400c5fd8962 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:4703b21b-4e24-4435-9ae0-07c6a78daf8c phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:ca4a3a74-603f-4716-a18e-3ce6f302b904 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:1d136fd5-892e-46f6-b124-b39e748af9b8 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:62721323-f3c7-4294-8962-9a0458e746d4 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0005484 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:3d89863b-84db-42ce-a2fa-7ddfbf0e2de4 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25411445 uuid:5df7e947-2115-4933-a29f-cf0553a78c1a phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:46fb2bbb-fd0f-4cee-875c-1cebc3e41856 phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25411445 uuid:9d3020ff-52ac-42ef-bc17-3d8d07727def phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:62e5c2fb-042f-4b19-8341-b9a53010f5cc phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:90c12eeb-638d-4464-947e-d1a131b43366 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:c1c52719-057f-4e66-9d00-5f1409f9d323 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0031358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:38fda0ba-128d-4b3f-b9f9-9e784306095d phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:f63aca7f-c1ef-489d-a383-37b64396b206 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:943653ba-1c36-4cad-a102-3ae2c50b8adf phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0003323 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:771f1211-0870-4c9e-8caa-27405f5a528f phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4Y infores:phenopacket-store PMID:27495153 uuid:406183b2-55d1-4391-a9c4-8491a2d1dd5d phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:bb13614e-26ca-427d-901a-fc92c89f4063 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001290 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:6696556d-814a-41a1-a907-4d44987bbc72 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0000543 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P6M infores:phenopacket-store PMID:27495153 uuid:e08d5b71-a9ce-4ad8-9568-e7a6e33eb8b4 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0100952 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M18D infores:phenopacket-store PMID:27495153 uuid:9b002505-4c88-42d5-8bee-f1ba6c0df071 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001336 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M18D infores:phenopacket-store PMID:27495153 uuid:fdf34af7-59d7-4780-844b-f706b6bca397 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0002421 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P1M18D infores:phenopacket-store PMID:27495153 uuid:c4159412-c22c-40ba-8d13-4108a6312af7 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:27495153 uuid:cf519aa5-4d91-4b0e-b434-4d1485d977aa phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:27495153 uuid:61c8f539-4f53-4ce1-acfe-f77dfab4c43b phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0002093 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P2Y infores:phenopacket-store PMID:27495153 uuid:9fbd8f33-e387-4902-bbee-dea5b9cd1b0e phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0001992 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27495153 uuid:168cf38a-ec5c-4da0-9419-f92aa10f6cb4 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:27495153 uuid:cd326470-02f5-4665-a30b-3f09497ba019 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1M18D infores:phenopacket-store PMID:27495153 uuid:91cb0ffb-3e97-4022-8b1d-fec9106af920 phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:27495153 uuid:1c0ef90b-f079-4441-9d13-5578ef1366fb phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cb1f8ff1-1b3d-4395-bde4-7d8024877900 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cbdb5b0c-184c-46ae-bab8-33829479e1c5 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:bdf277a3-b799-4ee5-aa61-2d1a5f7f5177 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6422a28a-d4d1-483e-8b37-e73d11634965 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:789105ba-c4b4-4882-bb5f-813a936355b9 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e33e2aca-18f2-4e80-89d4-925f7fa82f51 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ddf4b0a6-ceca-4c60-b08f-90a454327780 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:fb2d3f4b-9bcd-4687-9b10-ead8bf19e688 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e0f3c5fe-25a4-4fc5-9a43-7aafa4aff172 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:b8bc6712-727d-4bb6-b408-43e73c6541dd phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:a25454d4-72f4-4776-8f39-c75da71e17ce phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:46d920c1-ed5c-4d77-8caa-57bdba4fa514 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a8d8bc73-956a-4e1a-8649-e47e59e2d64f phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3de82137-807a-4312-a3bf-20dc9a3653cc phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d2219c3f-69c7-4766-8b4e-6c16751d4ada phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7d8b517e-83b6-4e0f-922b-409545c5fb32 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:fe3af419-27b5-4789-8012-0c95a39681cd phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c6ed2a05-3920-474b-9e0b-482ba57a288d phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:41e391d8-b59c-43c9-9a61-ee6ad9aa7952 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:47efcb9d-b914-49d7-8989-556d7cbfcbb7 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5fc9e699-bad3-44db-b536-988a18b078c2 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4205c355-ff99-4cae-aed5-3439a2f825ce phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1b1ff8bd-b167-4968-85cd-32d300153565 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8978b2ac-7233-445a-a0c0-5da9aa5f6fdf phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ef6fdc7b-44e9-4f74-83d5-54b14bcfb303 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30356099 uuid:e67e2eb1-9117-4130-b9e5-db4531f010a2 phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:fb32180d-c40c-4449-920d-23b1188e5954 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4ab1c2ce-63ed-4f84-9599-bbe633afbe4f phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:b25fcd74-1bbe-4f45-9e1c-d74e2b26596a phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4f4074fe-67cf-4ba3-8859-f22974c5fde5 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7121fdf0-5e12-4c9c-a82f-93778ca688c1 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:0968a473-5d50-44f8-8af9-0ffc1fcd5699 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e3d900bb-4c02-45e6-9d45-f70aaa994fec phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5b5434e3-baf1-457a-aa04-53b8a35fadee phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:b0049e2b-516e-4032-ba87-40800dd733fd phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:443731c5-030e-4f56-9221-31e1508fd21c phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:cb0127af-1f06-4ce1-8fbb-a3f779489957 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c601876c-ce29-4aaa-b2dd-341d4f6d2782 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6859a3d3-bccd-4380-b2f9-15744635c3de phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:37388da7-d3e4-4e13-b534-1c7de5999fa2 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b4330f69-b6e5-4d93-9d29-6200da0dc860 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a4baa305-702d-4e5b-819a-61b43e7f3ac2 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0ca2b441-d3ab-4321-881b-8fe8fe180f98 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6d043790-a8b2-4e7c-82f7-c6ee5dddae50 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:39761705-47d9-4bcf-814b-004d5d5045cb phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1df5494f-e04e-47be-8318-57e045ed2d51 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:32010716-6741-44e3-a9fa-6d5594b27b80 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:51feb28a-5b17-400d-bfcd-3f96f1bdd8c6 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7cc500c9-7320-4779-bb54-e137cc2673db phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c3533f2f-7d62-43b1-805f-f329a1c676e6 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3cd15977-8946-436c-b931-c9fb1bdf020d phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:334bc723-5bd7-4754-bd9d-7cb980808065 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ff668233-8263-45a2-a008-1a08ab2d12de phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P2M14D infores:phenopacket-store PMID:30356099 uuid:cf846dd5-df19-413e-a0da-cdf7e4cfc703 phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:19c21f0b-d09d-4f3c-b35b-dccd9928a7df phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5a27685b-5a7f-491d-8b6e-056f01596263 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e0402cea-2327-42cf-bb9a-e4d088646972 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:15a5a5ba-7ac3-4d2f-b934-d0555bb5796c phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9704e4a5-96d9-4024-92b1-09832db9313c phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:03927a7c-3f94-41bd-aaf1-a6da76083815 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:86a7f2be-e5c5-414e-aac1-8ca10b3251c5 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:20f1f246-3905-4a53-8a52-7088182952b8 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:a7ca1389-7968-4c51-8270-05a25099c1d0 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:8eb57e13-a87d-43d8-9b85-1e7e503ea010 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:819a2d32-8c22-4a38-b82f-3fea04c7f79a phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:fd3dca84-e369-4f61-9fb2-79fccf30ea4b phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c76b80da-5dc5-4bc2-a107-f93297155d56 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:aca2f052-0287-4faa-b2d1-247aaa4fb967 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4ea83b1d-af7f-4482-b1c2-9cdc57f28b32 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9d74db7d-e082-4b57-aeee-94a8ecdc230d phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c4550d61-fb4b-4bc0-8a2c-a358f182a588 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:23351a16-2b59-4880-9639-d100ae1ff924 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:75b3d9d2-c655-4ae5-b6c5-1f5effff2c38 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:14231238-3d53-42eb-a029-944212a754a2 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:78b4e02a-5223-4a7f-92fb-744362f58608 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f0225d86-59cc-42fc-bb3c-302c90db7ace phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c25ec46f-d586-4a78-9d89-3324cec759d3 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c9285a56-5967-4c3b-9db2-fdb6beaa2317 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:61fb06f8-a87c-48be-8528-f6aef58880d9 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:33c200f0-46a8-4ef8-ab14-f4dcc1d1c975 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:57101054-1469-4dbb-9505-8f96768c1fb2 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5d66cd8f-ff5c-4b38-807c-6ed743706dca phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P20D infores:phenopacket-store PMID:30356099 uuid:d31076bf-7d9d-4d69-a7ae-72b46299d958 phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:815e6d09-45bf-4b4a-8ba4-7cc72246fdaf phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:1bfcc811-f4a8-4b99-bf69-f1fec2eb3765 phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:79fd5e48-292c-4346-9261-730403484bf1 phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:5d4e3db3-77a2-4a69-832a-06a1228ecd99 phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:eea9b036-a8af-4f73-b522-8a4eade04350 phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:02db1fb3-cd77-4127-886a-3c44eee1243f phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:4a2642ad-1ea4-444f-9bb2-e9a7340e0fca phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:49eb2aad-1a37-4037-9e24-e66667b646f1 phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_disease OMIM:614322 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:03e6486a-fdaf-4d1d-9a69-cff274677058 phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:d2c3d650-82c1-4d79-9c33-81acf3a3df94 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e014dde8-ce5f-4235-b375-5a5e622a674f phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:179efeaf-b5e6-4f9b-8a8f-4469dc9467f2 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ea91fba7-d7af-4744-9c26-0bcb773ad5f7 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:dde3ceae-3502-4c72-8481-eff5c85cbb0d phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9b5d0cc9-4186-49d7-83e8-858caac41755 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ee9e2f0f-222d-495b-b3f7-f7a0c4ac058c phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:77b784cb-b5b3-4ea5-b8a6-a0286c144cf1 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:52ead81a-46c9-4210-8fc6-de0eddf9e38f phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:b78bb977-d0be-46c7-a0fc-2efcce13e9a0 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:8310befa-09b6-4988-8197-f154047e7277 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:a32f1aeb-007e-44a7-8de3-d4306beb44f2 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cf2fc3a7-80e9-4a0b-8201-90b5e4fc17e0 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:0fb089ba-d27c-4e2d-bdd7-917e53eb2da2 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bc7449f0-08ed-49f5-b1eb-7e73e6dce3fc phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:78d4618b-6825-4ae7-b129-a5ed598fa384 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:36db9d86-9dc1-4e9e-ad08-71f32ca66c15 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5043bff5-6194-4074-9b38-b492325ab920 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0900b5b8-615f-45f1-a297-f73c1caf65c4 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:090fb5ec-961b-4214-b83d-2ec3ed83532f phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:70437dff-cffb-4d64-989a-8d9c940b0fed phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e676bb46-3b6d-45a0-bb14-0ab007809d4a phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6be98125-a075-4370-b211-9936f239f3fd phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9d46d443-445d-4128-aec0-5f1809083bed phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6d11b5b7-33dc-4a9d-b383-790988ae4ea0 phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0deba0ca-b0a1-4ac5-94a4-91fe4caeb42e phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7854f65e-df30-4dd7-a2b9-06b3707099ec phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4f43cf12-4652-46a3-812b-0a833ec07efd phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30356099 uuid:adc0696f-7fa7-4f39-a582-8fae9f1cc44e phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:3ff5dabd-214f-4a0a-894b-39f33b828a31 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:8ce95447-03c4-4023-b441-67eedb5c60d9 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:cfb54d63-91d7-4042-8ecf-440167ac0807 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:fff55279-149f-460b-85e3-1e570eefdacb phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:94357fcb-2449-4dea-b6ee-f8a46651c0cc phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:916f3479-34d1-4aec-8f0f-60ae6c6c1b62 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:ad47f7f4-d3dd-463a-9d75-74790953e87d phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:1c7d39c3-9fc6-428f-8c0b-15d083477f03 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:e2afcd84-b308-4ebc-b33b-7c437b6b0e69 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0006855 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:845c3b8b-579d-46f0-8f0d-f4d28562b84d phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24369382 uuid:979454f0-289c-4338-ab54-3eca12735011 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_disease OMIM:614322 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:24369382 uuid:1b2a15b1-47b2-45a5-965f-457aad7f5cf0 phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:bdb521b7-cadb-4748-88ed-02fc91e83cbe phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ed505a55-12c4-4f58-a4e7-b1cc80b5f07a phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:328e6ae8-6c1a-4fb9-a683-6f1c597dcc1b phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:118cc666-28d0-407c-8fea-3f4f17a52029 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:eb51eab8-49df-45fc-9f92-9fb631400bbc phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:482bb27b-d717-4b32-9877-12a61dc8ba91 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9ac92a11-6ca0-4cfe-ad93-8e1cba25a6d8 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:79e21f8c-ffad-4ea7-9727-b2d5c75fefa8 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f8366ac3-19da-46d4-b21d-35bfde44fe5a phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7840483c-7e54-4c6d-a687-734f951894ef phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:cef408d5-4fb5-4591-827f-597468ef8fe3 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:be285c27-b0e6-400b-b164-94940e7c1128 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c73fbf53-4a1e-4ec6-bb4f-192d34091d3a phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:707c4ecb-d3df-41b5-ac50-2c5868b09e15 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bc6cf221-181b-4f4f-8d20-5cd45e320b34 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b9a7f3f5-93a9-4d1b-973f-6ba98d56c049 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b6ea8a92-38fe-46c6-a82a-998258a7ae04 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5a8aebaf-d0a6-4f90-ac14-c21765f7931f phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4b39c4bf-043e-4c7b-b32f-4142ab9172ff phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:817fd4de-d2b9-4817-bdf2-8afdd40b5134 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6132ac7b-591a-41d9-adcf-62d1e7d465bb phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:465ff3d0-f4b7-423d-8cd6-2c85084c15f6 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:21fdb40c-4f0d-4850-a7c6-f6bd33c2ef8e phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:cfd8f723-aa6d-4070-a646-daa3b02ebfe9 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b1a41bce-5baf-4f4d-9ee3-249b26591614 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:44033b7b-a622-42c1-bae5-05743490ec30 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e3055a13-7c05-4589-8bec-1cac29fa1fea phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P2D infores:phenopacket-store PMID:30356099 uuid:d9c66675-93b1-42e3-b1ee-fd6dc7fd1f37 phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:7602fa48-5fed-4638-b672-1fd760d28772 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:714b6816-e31b-4c25-a258-328716a0cd5f phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:61335311-3ffa-49b0-992a-9c5e908ddf82 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:78e4a88c-acf1-45eb-940a-9b1dc85b7d82 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:823c98c7-dca6-432c-a943-5bc52b79c286 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:5587b31f-0d61-411a-adc1-86a8db1cf6c5 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:e2521a2b-4c43-49b3-bc99-41b729a5a40e phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:440a947f-6afd-4baf-970b-853e6ddc131d phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c7cff687-9ac8-4136-be21-4c5b21100458 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:acef9647-6fc2-4db9-b772-5e3503722359 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:453e5cb1-3c57-4bb1-943b-5ff1ad1ea50a phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8026c3cb-9da7-4d3f-8134-c0f2847d137c phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8acce1dd-cc01-46fc-9244-5fadf1bcb6a3 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b8a6a124-861d-4001-aa35-e8f40cc3a92e phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2a93f094-55e9-49c4-8f80-46e192bb318e phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c72cdd2a-d3be-48c4-aa5a-c5ead3f42c77 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:fd02f040-8404-4e8a-b81d-942b457a5812 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9a78d13e-d23c-4b48-b815-e9b13306ec2c phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:883e2254-5985-424a-99d2-448a042185d0 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ec919405-b8a5-439f-acce-d8c7424c653e phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:08ee42e8-2cf5-4913-b311-c3cd6c6e381c phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3341bd02-e135-4fbc-a8b3-fdc35a48e929 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:53ec5641-d520-42e1-a5b2-14d7487d5d59 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0fce62c9-72de-403e-9cc5-8e0300702f20 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:43679046-b6ed-47a9-ae21-8770317cfef9 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:42e8b3ad-0436-45da-b937-674fc47d85e4 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6efb63f8-128d-45db-a2dc-1b0aeaf5cee5 phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:579bc91f-8866-4ed0-9723-832c5ffc342e phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P2M infores:phenopacket-store PMID:30356099 uuid:17aea4f0-4854-47c2-a6b0-041213ef084d phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:c7428957-7eb5-4bd2-87da-8ce729468241 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:aecf5f47-2b11-483e-a80a-6c63f5b3db6c phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:ee885d5a-2fc4-4268-be4a-95da806bb495 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:6236ae81-328c-444e-90b7-4b9c84b9bcb0 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:f0ebc118-7f07-4618-bd3b-508710e4c595 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:067a0f5e-762d-40f0-9106-b0996df6f2bd phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:907cc56f-a5b5-4235-a0cc-b261b99d3623 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:95c41398-c10f-40e5-a80a-feaa89fc2703 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:b3d10eca-a446-4fed-9386-0ca3f49e2bea phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_phenotype HP:0003487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24369382 uuid:28b69e85-c15f-47bf-8c4f-bc0b5939d0d4 phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_disease OMIM:614322 biolink:CaseToDiseaseAssociation manual_agent observation P1Y infores:phenopacket-store PMID:24369382 uuid:10b303b6-deea-4917-8e91-8e1e299af0eb phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:52fe1b8b-590b-4aa2-ade3-12ad1e902988 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:fd3a9e9c-9821-47e9-bc6a-1f86e05cb820 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:140509eb-817b-4b00-afe8-572e2decdbed phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:0c0bdc3d-1754-4f9a-9776-771eeb7b0d3c phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6a94bb6d-b375-436c-8bb1-d5289aa7c016 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c9d7ddce-3188-4f4d-9121-779e03d11ae5 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:0fdd634e-2318-4030-bdce-9a75b2243136 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:c22cc39c-d239-42b7-9b73-ec369cf89470 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:db4fe71c-f4cf-43f0-9b87-7bedb2e80eb1 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cb0affb5-b5cb-424d-9c1a-25db04e7637b phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:332ea03e-e8ec-40e0-9aa7-5d41c189fa04 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:9de064d1-509b-4f87-99c7-9cdab7662dcc phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:8c0e7a73-c02c-4174-bb6f-cb16be9f3b6d phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:696494e1-4614-4655-b505-6f85f8f96c90 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:43b7b37b-8f07-455b-afd4-1d263fa20eb3 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d74007d0-8c3d-4f85-8c59-1fffe7fc0687 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e6b81400-2615-435e-9405-95f93640c25d phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e43b4917-2ac7-45ac-b03a-15a7e7ae4cd5 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0d675662-e552-460b-aded-be5a38e38183 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:941294ed-ba27-4855-904f-b32e88c29bbf phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4c3bbe60-b2e9-449c-bd0a-3479ee81b7c8 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:43aecd3c-6614-4d4c-9158-02beb4dfe5eb phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:abb21cc9-cbd4-47a9-afd7-fca4546ff7fb phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:10332013-964f-41a9-94a4-c1ea9e962efc phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d801695b-f51c-4dd7-b4e8-9782250ffd0a phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8bf49010-beac-422a-97bd-b55e408cec35 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0ef199b3-7ee8-4100-a380-e51ea19f8829 phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7613767a-f2cf-4d0c-86a3-289a1fd9604b phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P1M infores:phenopacket-store PMID:30356099 uuid:7043934c-01da-4c03-8f2d-909d47dc1ead phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:c370703a-2ce9-457c-8f25-bed170491bc7 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cbb21e4d-30c4-44c9-affb-bc01208d766c phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:8b3c4311-dde9-4b3a-93cd-e15754132079 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:f3be4313-9b1b-421e-89d9-0a5af747b0bf phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:ff29ee0d-9ce9-4c49-af26-3ec96c9d4b77 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:2370fb9a-7bf3-41b8-92f9-e0630f086372 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3fb3e4ba-654a-43dd-9697-c5a6eeaccf61 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:3d9e972c-4dae-468e-9d1f-15696a2b7254 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6ce10410-72fb-4d00-bdf7-758b2157370c phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:cbe8fcdf-78a3-4adc-a931-84e81310a23e phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:69372a66-e33c-4406-8f60-2415a15a48ed phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c61e203b-7283-4d6b-83f4-21c3cdd61f3c phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:f6a2dae1-53d8-47eb-81f5-c9281463d0e6 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5fe6c747-6523-4648-a512-1248ab3da82c phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5f1a509d-f142-4052-aceb-0f3376726e0d phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ef4f73a3-ac6a-48df-a8dd-f3f8503cc806 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1cbd8829-8dd3-4d39-8758-0562da56d610 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3d6f06a7-3807-4fe0-ad0d-ab1ce1f1a6c3 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0bd049e6-7e64-40de-95dd-bc0f05a8caa8 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5df8f488-e8ca-44ec-b533-26864940cd2a phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:787c26de-a6db-4494-96a7-9eb1991e39a0 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bfdb63e9-0216-4d00-9c19-749f70208f06 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0b66403a-b9af-46b6-a924-ec31be02acfa phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:557356db-25b4-4689-8bf4-645fb5bbf721 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2e4bfea6-dbe5-4bb2-b3e5-3c846a50edcb phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a3d1a327-a68d-4921-9bd0-56623cca9953 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P3W infores:phenopacket-store PMID:30356099 uuid:dad5c105-1cc4-4022-959b-45a39e965f42 phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:d058c05a-2f8e-4821-8906-ac5ebf3a4a61 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:92e6bf66-4086-4566-a0e0-95721c4d3f35 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:202632bd-bd97-4393-9c91-20db6672fee0 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:71ae2f67-9f8e-4061-8c71-efa32d3a59d5 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:845236d3-f17d-41fd-9894-4ac1533d5ca6 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:832f26df-f730-45d6-9aee-709634011730 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:56131bb4-ecc5-4921-86df-355e637b8228 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:034a7d82-ab6e-4cf0-97c9-97f4d21312af phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:22d31820-51a2-4811-99f6-db311b26fe3c phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4a44f9ec-10d5-4432-aded-39212df2a5e3 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e6091748-40cc-4f52-977b-259d17e7ff47 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e4080efe-84c1-45ff-8a86-5c24346aab01 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:384eae8e-2877-423d-891b-ba35298ba2b5 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:c328beab-ba51-47e6-8251-33bfba941a4c phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:ba905d30-9cce-41ea-8554-cb420d18d4db phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9ba42605-736e-409a-8540-5c2addeece50 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:33bffc43-609b-49ef-ab19-b80641eb2669 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:5d87dd89-284b-4f98-a433-31c19f0353db phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d67027eb-3de7-497c-9d8f-893487e49775 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8e0fbf51-7726-496a-a4f3-7ec82bec6ed7 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8d2e3406-a34b-4b45-aaf0-ef8b8d816c64 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:e588d0fc-40d5-48ec-8d98-15136c82af61 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:243a5af4-8363-469e-9435-b384d2c43350 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:6c99e226-6cad-45b8-9b13-26c8366f5534 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b34863e5-fe78-4cc5-8823-1b834bb13c4a phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:cf67bda5-21e5-4a4d-a5cb-78f1a6b74f82 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8f126f19-6502-49e6-83d0-5b8f78c574c2 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P3M infores:phenopacket-store PMID:30356099 uuid:68ab965e-afba-4176-8e60-e259e970a1e9 phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:789202f2-5761-400f-94be-995491c7cbb3 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0002066 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:b800bea5-4870-4d7a-a158-e3599ccd4efd phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:2ec39668-dcfa-46c0-b6e6-4298e01722a6 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0001260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:cb7b2c12-688a-4bb0-81ad-efb6a5046287 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:01af89f0-fa78-4a45-b165-fae77cd98809 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:29a648fe-56f5-41eb-8a1e-c55b80c1fa57 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0001265 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:91503781-c8db-4f0e-90f6-c119ea9e6923 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0000640 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:71ae7fa0-0c7f-4cbc-8684-427f74bdd543 phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24369382 uuid:8eaae49d-5bcb-4c3d-8003-184f6af84c6d phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_disease OMIM:614322 biolink:CaseToDiseaseAssociation manual_agent observation P9M infores:phenopacket-store PMID:24369382 uuid:45c26d39-9f19-4b31-8c3a-b5d880b7fcab phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24369382 uuid:afaf603c-4002-42da-8db3-caa49157fc0f phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0033725 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:6256a29f-804c-4f5f-90fd-0b5db5e95164 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002266 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:4e4b93de-9956-4238-a390-b1f191b81907 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0200134 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:7a951152-154c-4b78-9e0e-d3da8b281414 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:606a1195-8e05-4f3e-8229-3a10a3539bfd phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002375 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:1c603159-e721-419d-ab0f-317b0e95f2c1 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:95e0e4ce-37de-4567-841b-13f59bd491fb phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:694649e2-1619-4d29-93f8-11192a848bce phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002353 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:81914320-a321-4b1f-b948-fa73fb3b2f46 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000817 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30356099 uuid:bac6414b-1437-4828-a59b-0cd0ff504b5c phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000512 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:7086563a-50a0-465c-8b17-cbcf918d515b phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d0aec88f-0e10-4a70-82c4-d18c66a0a772 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:4b621fe6-05b1-4a1f-9df9-fb4f932c79c2 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:726f2aaf-3a05-439a-aafc-42ade24274da phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0011097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:3e7ea0e9-3119-4b46-b2b4-8edc6bee3e02 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0007334 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:8aca735b-5829-4ea8-8205-9b97d7bb5860 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0011169 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:0e2bb769-1999-477c-956d-5091e4224c3c phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0011167 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:2215687a-5351-4a85-ba69-2c43e0bcbeb4 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:13fc1d99-6f4f-481c-a5a4-64b3b4eaff74 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0001558 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:d753c130-4368-4e2e-9914-313206d846aa phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000311 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:b0a1282d-a566-4da6-a2a0-cbf745f57bb8 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:50859ec4-a4af-4031-9034-83ee2e4a7531 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000470 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:1deea5a6-8da9-4eef-99f4-e0fc9a4821dd phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:bfec6064-11b7-427c-a69d-55d5335ec5dd phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:a0be29d6-3046-4295-89ae-006048c23571 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:24bed444-99c0-421b-ba50-58bdc19c8105 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:aa1262e9-ab6f-47ae-8d71-cc60345ce2ca phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_phenotype HP:0009909 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:30356099 uuid:9eda122a-94c0-4fcf-8925-b643ddf68535 phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_disease OMIM:616211 biolink:CaseToDiseaseAssociation manual_agent observation P2M14D infores:phenopacket-store PMID:30356099 uuid:b6bda7c2-7240-4b1e-9830-5fceb2c4b91a phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:has_gene HGNC:12799 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30356099 uuid:7598d3c3-9382-427f-91b7-c5681cf070bd phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cc30c846-61b9-47c4-80f1-9764c7a60fdd phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:51c75ae8-6e8b-4000-8782-41fb8c4a1d0f phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6579a053-291d-4abc-bbab-6b186ef6f800 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6a0a0f6e-fada-413e-b474-42f34eb7c172 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:eed9c4a3-d78d-47df-9d66-85ade45626ab phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:19c3a3dd-7581-4463-93a0-94963ec5d0fc phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9017395c-155a-414e-b70e-69cc8a114a6b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:776d11c7-f509-4fd6-aaf2-bf01a1ad7b60 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9bb3403a-203c-4363-b4c9-c9fee06f6fad phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:729db5a7-1305-43de-96aa-890a3ea4f585 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:75afcb19-c182-4f58-8299-a810c1f28c33 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e66768b7-f983-4a7e-b2a6-1f2ba3a717fa phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5f33a9bc-000d-4d1b-a092-2b0a6acbe46e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:19b29afd-f87d-4a68-b9f7-95e1677d4065 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:abb9ca37-2486-4884-b577-dd27f5aabec9 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ef676b10-7a69-42ce-9991-f13bf26be320 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5f57ab51-145c-4204-a8f7-927afbaa6371 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:052c2cee-bd32-43ea-b8b9-983f1ae8a29d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7f891c45-e325-498f-8a48-ddf2b048efe6 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c8e75af0-7126-4d3e-a4fb-dac22f89a4ea phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:088d661f-c393-44e2-8523-564004bed68f phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:680624f7-e714-483a-853f-8b10bf9db817 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bb356aff-e40e-4bf6-928c-355e00771e0c phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:48348946-3211-41a1-8e76-afc8ccee8979 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:849069ac-eb09-4881-b16a-0692603c9725 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f0ed028-0d7a-4774-93eb-32d30043d60e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:060db460-c3a5-40aa-a4a2-72deb7826260 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:104b9f06-2289-4c60-958f-63adae1a1d6b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:68c85eb2-9770-43ed-8f30-30fa1544e617 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b34887e-eb79-4a59-ace0-8395c8d74cca phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:61e5706f-0105-4b32-9651-f2755931df86 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18020158-7608-4497-98a2-40f8c5d4fd0e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7d205292-bf2e-4bcb-9107-f701f024070a phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:178f94f9-9c7b-413d-a83b-c7b26dfc12f8 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aebff0d5-f196-4fc3-9677-9813061b3401 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9748a8ca-686e-4f74-a51d-b2d9a885a263 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b54a5362-da42-4985-babc-0a7f553955d1 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:855ebdbf-0278-49ba-87d5-3980e7a6607f phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5c90711b-53d7-4632-bdfc-2f900ca0fe0a phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b9b3a23-567c-4d4c-8cd6-c215655e6cfd phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe32def1-1e41-4e52-9510-ad6878ab4e94 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5b7d9ef-3767-45aa-9321-b4dad000a7ff phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6084d72e-2e74-42fb-9411-929fc707d061 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7e970bc7-54da-4720-ac24-5716ddf5fc06 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bdb94c76-3590-4674-8b34-25b10e6e46e8 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b46307a4-9f2c-46fd-b995-4256f242d20d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:38606f82-b9d0-4ad6-b1f7-d8acef1e368d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9fbb9228-f784-46cf-8ef4-2e5e6f69ca03 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fef0414f-e116-41a7-a053-ffa1e17963dd phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b163714-12a7-43ce-a168-a85d5dc59efb phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3798e979-5f54-4543-9c58-a40eded9c231 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b0aec99-d87b-4b99-b919-c9854e7af48a phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d51dbd5-53d7-4799-a5da-2a8b5e313fd3 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1952d75b-fdb2-4cce-a4d3-83bbfbc01572 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9cd6dab-bf90-4a66-bc0e-215ba328cbf0 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e60081e5-c61e-4d6e-8a9f-31868a0eeadc phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c548db0-7059-4598-8c53-248020a5a556 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42bc167b-4cfc-45ac-90b3-94e192e34631 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0ed76120-348d-45b5-a51f-c147f56826c5 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:baf5e46f-064a-4d07-82ce-28f29b138a3e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36738789-f2f0-4492-b720-e93585d16187 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:547f5dda-d53b-4540-8b7a-88ed2e4e5e75 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46b1c0dc-6220-44a2-bdc0-fe6d0400f43d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5bd99e8b-282d-4ae3-8439-3d11748b0f97 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70f0f5ce-d509-4853-a3e4-ad3119d2d65a phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ab7ff76-8da0-4c03-83ee-1fb157898dd0 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:49da5088-da2d-4f61-8402-12a68d4ea6c3 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fae546ce-86b2-4548-9e10-1c82dcbac606 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1bf5c0d4-2b46-4334-bda9-f817fa64bd90 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7e89ce4d-fa65-466e-b6e3-5f18eb9545df phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:51dc7760-0b8a-4b4c-a175-e5ac718de361 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26ff356d-713e-417c-ab29-5d40137eb17a phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9886bcc2-5f78-499d-91cd-7529f1feb880 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05e5bad6-b4ee-4fa5-8e7a-63151efc1f19 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8aeeabdd-3411-4fc3-b239-afc775b08f7d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cdef4b8e-5c97-4d5a-a765-3ffbdf658660 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9d79f67-27f2-45d2-a761-1aeec6ca7093 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfbf730a-37bd-4c97-a7f0-d1f455da1eaa phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0ee028fc-1ec5-4030-b387-2de2a150efc6 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:48513d33-d822-4b1b-8b1d-798e0e809275 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20c6f03b-8d56-4468-9553-48d600f01973 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2f28494-34db-4da7-a07b-540e3559a402 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:23725bc0-c1de-4df1-bff3-c7f7a1a81db7 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf987344-6998-42c6-a08b-68a67fd90128 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42198bc4-85a8-40d7-b99d-30c824217ef1 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1563bf86-c90d-4ca2-9b3e-868800099184 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4a267ff9-d1c3-42ce-84ea-cda3963f8a6c phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df8ea078-1d8b-4593-85d4-36d06045755d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1c357b2-4ed2-426a-aa4b-7a41697f351d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9748b5f-ba00-40ba-ab62-b26e084b37d8 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:15f0588b-42e7-46dc-923b-b47092bb6a02 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79dc9319-2ca7-401f-82a1-efb50bf6b5bf phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24193c87-ca4f-4e19-a4e4-6085c2446ea8 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:88791ba4-84be-4013-a44a-8de145bdd7ad phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b2f943d5-5b75-4e30-a22e-31d2c619b444 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bdfdf1f7-8a8e-4ceb-8c54-6f0af382d5cd phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a856374-042f-4b38-aee3-e070889efb66 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d3b46173-3e48-455f-a049-a09ed97d40e1 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:41f0156b-de0b-4654-8c6e-1c1fb66403b0 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02410c13-48fc-4bff-b5a7-1708092832bf phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac0cea38-5cef-4e67-8ca4-0f075bbbaf09 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e35ad965-0cf2-404b-8f9f-152eaeb096df phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5ed4d3ba-c986-4987-93fb-42c0c65b9518 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a319f804-2f07-4022-87fd-296a5511bb53 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52086824-dadd-4f5a-9715-42f60e58d10b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f1df6c96-ea33-4f26-a848-0eb24a920dc7 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5b1b877-59e2-44f6-8382-9d6e282940c2 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e442ca9-076f-4d83-98a7-9a2022d9b315 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:359fc659-37a5-4dd1-98d5-1df07cf57330 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5270ac5d-bd09-45ef-ac64-f509b97d647d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ef48178-854d-4514-9ecf-1bdc24d3b6ea phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7abbc5af-2716-43c9-ad53-ed342170e0fb phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:550d2b34-5f8b-4f95-a8df-ac04f9c59561 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:321bfa83-10ae-48e6-9c3d-edbfef6e0f10 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:febeffb6-f0f0-4d24-8d01-4f0cb127eb72 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:906332d0-4440-4663-831e-84f32f316c72 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:afbcb3ce-dc45-46d1-be4d-0beba9b884ea phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:037fa716-b3bb-42b3-b6f8-ce3731034964 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:07c261a1-18b7-47a0-bc97-c8a1d0f1b819 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dbbf7b25-e60e-42dd-9af5-2ce90c57fa56 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:72042760-722a-4667-add4-efc9f18be774 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c1405910-18a5-47ff-882f-228cfa44b7b2 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2d13ff4-0905-45c4-b914-73adf5b78f5f phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f5e49bd0-86cb-44e6-9182-16af9e597d7d phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ec8317d-d324-4f86-aab8-56ee936b2d5e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:97730bcb-240f-4aaf-908d-5445d6b7afe3 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f3b6080-05d3-4ed3-b783-4c72b0cc57a0 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1ca11fc9-3ce9-48ed-9e5a-829420714e0b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6157409-ba00-4f54-ba16-783fcbfffaae phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19e519a9-10f5-4c7d-bfe8-e53b2ee3b3c2 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd702741-417f-4b50-aab0-c33c2102ca46 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8c41aff0-3b65-4ed9-88fd-cca55bec3792 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bcd0781b-13ba-49da-9284-dd77bb238b45 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a165d8a-d4f9-404c-8e1a-6b44c13b41f9 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:15909c58-d68e-48a0-9db1-d36105682ef8 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e22e6a68-cebd-40e2-a8a8-248ae8ed5e31 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7abe59bb-979e-4dba-aadc-e003fc7ca4f3 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f82a2b49-4e21-4ee0-bc6e-3a9825e75b4f phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a9e9b53-5f4b-4d2d-b660-36477f7645d5 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ebff1318-01f3-4755-9fd4-c996c6eea3e1 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71ac7590-0566-42b6-83df-a26e153a5b84 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3ae04578-73f4-4802-a3de-a401431f8056 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3aaa91fe-1a15-4704-8aa4-f5cbe193cf78 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:610719f6-1286-4e17-a207-c83d9bec2a95 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:616c9d11-3f9d-4036-8065-05fe3fccb5c4 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e2a9af0-dce4-4643-8eab-51e1fb4a4791 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:443fa340-1d48-4b93-9399-b330ee7e28cf phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b91ca45d-42fc-43f4-b941-22bb08225046 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:421d46e4-362b-4032-a217-db56ff89778e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdada9e1-6c7a-499b-b2ed-62caa6a71123 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:706c5d9b-8f39-493d-ba21-d64dca608b7f phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c444bc96-84d2-4bf0-958e-0bd8a6bda562 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:77a4b7ed-4fef-41d4-bc68-c132c9459a5c phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3a7a13f5-78fe-4846-83c2-4c111a44127b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:509f76a9-21ae-43a1-8084-cfccbf8c0598 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:83de871d-47c7-4dbb-bc5e-0b2f09c9e22e phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e83d5518-bfa6-4377-93bf-66215e11183b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70a5b499-637f-4a87-9892-68a3f8f2da42 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db25e6c8-1227-4329-8da3-442f2b41dc29 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:60e2b8fc-cb6a-47ba-bc95-1f266547d1a8 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d25d5ed-2ea6-4b78-9264-4dbca7d7418b phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42d73bc0-d693-4be3-a26b-b060a17d34c0 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c1a6eb89-d0db-4254-8161-c622895cb7ab phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b669931-4519-490c-b09d-7bc28940c0cf phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9b1bfa7-44ce-4b15-9cf1-5c92827e9ab3 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:699c295e-ad65-4b91-965d-4ebe9a0a0543 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44f67ad6-6fdd-4ee3-a81e-52b66855ffec phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e62a49f3-bc21-4db5-b25d-79b519adddb9 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c7891c9-0f8c-4a7e-8504-72adc8487797 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dfbde43c-326e-4564-8fba-7dbb9d37ab94 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd0d9514-0f60-41ab-919e-e4542fc0cf34 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:6e8ad9ed-6d29-4269-aaf3-ddcd50192f17 phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:30342062-9dde-4b5f-bab1-0cea8144e5b7 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4446689b-d8eb-4178-8478-c8c575525bc1 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:2387b5ee-25f8-4a2c-8903-0309bf237a51 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c6f260ae-93ec-4548-83e0-c749c5946134 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b8c48ecb-a9e9-44fc-a269-c82a10a8db90 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ba191647-06b0-47a5-9bbb-d27e11bb1ab6 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a52d1c0e-ec78-47c7-9348-75cdb9d819bc phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7b063d6e-7bd2-4de5-9030-baa850bd930e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:aa3b36b4-9f5d-450f-840d-eda0b62fd94e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:69952b5b-033d-49cf-a4a2-c89f5fb551c1 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:903ade3f-d3ae-41d9-b418-2668cffb1887 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:34ff6822-8aad-4d2d-ba22-f933f0b9aa16 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ff0fafc4-3f2d-45a8-a597-9dde827f6c86 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:873aa2e0-b6bc-46d2-ab8e-ba5a08936d57 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7b632dcc-1665-427f-a174-d31abeba19c4 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7c15b1fb-5d0b-4e36-a043-ea0433e8d77c phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:64d551e4-eb38-49df-b392-7938072fc3de phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:daa9c4d2-b4f6-486c-9615-8a88b6e855d9 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:55043d22-023f-42e6-a464-6c5daa2f6745 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1a94e14d-279d-437e-9074-5f90fa598b99 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5e8c6813-5b68-4c8b-b4c6-e3486477156a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:23bcdfd3-8b41-4518-a5d9-6b9caf01aaba phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9599806-2363-4c79-92be-99313c22afbe phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d6d52740-5cfa-49ab-ac9a-da91bb14ac1e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b42fc630-b39b-4154-8580-bcc558c476c9 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cee5c089-b690-48d1-852b-dc9bf458559e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9f4d3b5-65b9-4f50-a6b8-6135904a1fb4 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f185b976-f291-44a5-80fc-5b01c40d0a17 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11474fa7-25b8-4b06-9160-01e72e8b6951 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6858c9e1-cd81-4a81-bd4e-2a62dba16155 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a8a68025-8c72-4663-a082-cfa3e94be74e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f8bd91c9-946d-4288-ba69-78fc69c53375 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:62a003e2-78f9-406d-856c-973f1ad0f95f phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd2bcb1a-c67e-4cbd-82df-ffc1f3f3fae3 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24f9a766-8df3-464d-8ca4-9886f8e872ac phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87588a40-0bb4-4e97-bc77-7805674b6ce5 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8a0c1de-6c34-4dbd-a00c-45721ab6dba2 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f440fa52-ba65-4def-8d1f-a615eab7b6dd phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a71b96e-890a-458c-9cc4-f2c3ecafe8b5 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:874c6f56-d7a8-451d-a145-c8af02a660f0 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6315c1dd-6c66-4f8d-b0dc-08173917d5c2 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac1c9993-8d68-42fb-8f13-0922e3191f40 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36869fa6-27db-4c7e-8357-5cff53d2357b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ad275636-92ab-48ca-98b1-b5380f83bef8 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d4a42018-9e6a-4724-afa4-d21ae0f0bcd9 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0203e79-6d99-4713-8586-d876f5ee29f0 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2db81f3f-8ae6-433b-9afe-31a686c94345 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:025f846e-f132-422b-90e7-c28ec4ec7828 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:544cc942-c929-429d-a885-baaa277064fe phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24bdf236-1d6b-4bdb-8c6b-526dd6750d19 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a44d4ed3-c786-4b59-a243-e493f31083c8 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aa2a59d2-e892-4d76-b848-710f8fb23d9b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a9dd3e4-ad6d-4a20-a3c0-8b624483bca2 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11b27733-d93b-4803-9f65-41f0a46701a7 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30df1af5-9a8c-49e3-bbd7-09f6304baf7b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ce75c62-881f-4c4c-a96a-8b4bbad2417f phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:69d45d10-9295-4a44-8ff1-535451c2bb8e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a17ea1b-bcfb-4fad-a05c-1c16ab544942 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb3d85f8-473d-4bfe-bc32-839528a46c97 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6d73769c-d58d-42d8-9de1-623f49a572f7 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f2b424c2-50f3-4622-9e41-a664eaf2f3f5 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96174baa-68ff-42b3-81a8-408c48de72b8 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f6f77faa-d89c-4ea0-b643-2b04fe81635a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:008d7b23-30df-4925-906e-cd8a667e0562 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:791fe817-11c2-4bbd-82cc-cf20291c7f0d phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d7e0b2af-13a8-4859-a7c9-b27d7696ae6a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01a18c14-4a88-4ff1-935f-6e333fec013e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:604ac9ad-720a-4bb9-9cda-feed63f2170f phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3a6f4b8-2970-438e-bd46-0a009595ff40 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb35ab47-06f4-4810-8207-b2a5b97b6ca8 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fad475e1-7c81-468c-983c-5fe531d5cfce phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02907b48-d988-430d-b005-fe24e19c4e03 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d840af6-4dd9-4f21-8e13-5e4909f5c23a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7e87b879-40ac-4c5c-a4fd-c0a33e7073eb phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:81cddf69-5a90-4c60-84c9-52fabceab1ed phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d569727-7a77-4564-b0d9-d3b54d0b5b6e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e7dc515d-6eb3-43b3-8ee3-57d714f2f407 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d2d03fa-6348-457a-a4db-be7a752f6a16 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e6c80365-0d08-4b33-9b2d-e39fa0a55689 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:038ebd5b-6dcb-4ca4-9fbb-f703b6cd7fbc phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5661feec-6bd7-4f42-be55-8d3656451398 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a251ffc6-41c6-4861-9697-f51f894e0385 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11a39c7d-6276-47dc-a66a-53bf3c575caf phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a952800-c62f-4672-b507-514fa1c5f815 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b14fb8bd-db78-49f3-a4d9-3254374293d8 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:783d524c-9ac4-499b-a1fc-9b9a6f2293fc phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a840e124-3944-4fb7-9a76-a04e5fc888c7 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a914bfd-46ba-4b3d-b2e1-a1cf897da001 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f02f7772-9080-4ae2-9007-c2578e17a4cc phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9042d3a9-3da5-499b-bc4b-796136744c85 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:deb5d932-8d4c-46dc-8cf5-db7fbd979e95 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c4d943ed-7527-46cd-9144-452d85bf954a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d7c30f44-2f77-44f8-b05e-c1dc97df58ad phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f5409cd7-bd93-4ce5-9674-b73b7de53d26 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9ab0594-40b9-4157-ba45-6e8751143aa6 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a21fcbe8-4184-4ced-8e10-e5287ffd187e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e4924a34-e25a-4ab8-8c62-63b60ceb6c61 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28ce51c5-cc86-425b-8be7-2a53dfb76e28 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53763fb5-5a2a-43b5-947c-acd328ffe0e2 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:676c0aa8-e468-4bd7-b0ab-631e8c3a282e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3a883771-ee7c-449b-b52b-e99655e3bbbd phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98966ea8-7277-4c19-b556-b40209b3041a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfa6b5f9-c9d6-413b-a608-fa976b320f15 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:47b9e998-c156-4dab-804c-badf92af6e4d phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4aa88302-a72b-4e19-9ce0-089111643238 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6eef134b-6bb5-4b1b-98d1-04d8746aa2d1 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6000e941-e602-47ba-840f-db7f47a189f0 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:484690a2-8706-41fe-89a8-deb7198dd39b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:edd16de8-dda6-4357-ab5a-38cbfb44dbc1 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0684063a-21b4-4705-bdea-9d025a9eeded phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:873356ed-1f8e-43cd-b5a6-26241b99fc7a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82f9b0f6-dc96-4419-bc84-c3074d743893 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:43e6ab7d-1797-466a-af15-83171025a1a5 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a3925c7-5e03-45c6-a46e-d938ebf53d20 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9780fdc0-ebfb-4346-8733-b6452d38c749 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:502b5abc-1de2-4f99-b198-6e21886d126c phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b99007de-abb8-4eec-8caa-d090af206798 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bf6364b2-78c0-4766-96f7-09c6f84f075d phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3860240-0c8a-4e8e-bb92-004a7a5b5bf1 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:034c4913-5c88-4584-be12-963b4d27a5e6 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b399cc1-1414-41b0-a332-94cbaa8b7407 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:987f6d45-28ba-4a6c-a4ee-98aaea463df3 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:45150bba-0d0e-4055-9150-d73bdea61f47 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:325a808b-88af-4d98-89bb-25976ab15e75 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c97908af-3526-4d77-9c55-5699501e36df phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:015c5e1b-d482-4d73-affd-027ebd437adf phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7fbceac-5e42-4f28-9ea7-aab3de6c3846 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5d57e6b5-26c3-423a-9a43-ad6ea6a82ece phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:482a2222-493d-48cf-8400-9f32f16014bb phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f933721-d344-4347-96c1-2e9d9d135230 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f12ab490-aed4-46c6-a2eb-9b67ee9995ff phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e330b085-64e7-4d89-814c-a8fd6ca13e9a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:117056a8-4e04-4c59-89e8-ca07e4afbb1d phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9d5da9f-00a4-42f4-add5-efa2d9e73ed0 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2070054b-d76d-4276-8c72-bd0545d303f3 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0ba211f-02bb-4edb-abe3-4dbed1326459 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:192d8585-4fdd-4b46-adef-a354f919f225 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0dd2cf08-f7ec-42b9-afd0-88855a46e2cb phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f31ff8d0-fb45-49f0-90e4-b1a7794d0b88 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3f3585b-5f2f-4979-a71c-d30c5113c080 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:97d92b57-c5e6-4e52-9056-dbe7121d0e8a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:014b3e78-320e-4eba-80f3-0eeff2c2eb4a phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1f0339fa-0e26-431c-9fd8-75bd68b5ac7e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0526f39-c5a4-43a8-b2f2-aff080a8195b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32f1be25-5b48-4544-a203-f239f90954fe phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c905e7e9-b338-46c8-a99f-f0bd00c3f729 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b76725e-8af7-4fd8-be18-750105867af4 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d433002d-088a-4c7e-b796-de1e2ab303e9 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac0a151a-a85f-450e-8bc8-53ec53aa3baf phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:647037ef-ab4d-4d36-85c8-4fa021bd0a13 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e302f8e7-48bf-4101-966c-b3b1d44f621d phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:657f972b-7dec-4984-9b9d-8663a7159324 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9a37b33-0be1-451a-a4df-f591ec3a8895 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2360b0f6-76b9-4fc3-ad7e-02cfa2a08f15 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:873ed0d6-e46e-4c2c-9125-fc174bdd04b5 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:425443cf-59a1-4120-a7f8-7cb3ccab53a2 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5e7c783-b00d-470f-a069-4492919a9e0b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0678a2e-74be-4d46-a6c6-ae64bc6fc402 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e615a2fb-a2a0-42f2-aea3-77e80220637f phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c15cd4f-d83c-49e1-b1ba-8d651b3fadd4 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b315bb47-19b5-454c-aa5c-092217c20624 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3febc6b9-2052-4ee0-a46c-c508b8ed1f9f phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:622a7d2b-64eb-44ef-b00f-4bb7939c744e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6512be12-b755-49f2-96f4-107134069cb9 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e22984e8-2ac8-4098-af44-6f5d8f944a74 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dca45354-f5a2-4434-b371-24d7760ef8aa phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ea4f98d0-61f4-47e2-a01a-08e503362dad phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5bb0f704-ee52-4141-9cbe-1bcca9521d30 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:81df6ab9-4b09-49ea-833b-31a2f43b3b10 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:81f790eb-76f2-4746-bdbe-8bf32f2dc74e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:345275ed-76ab-4d4d-968e-a17524fa1677 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ef83d3fc-27e7-477c-9cf0-96d98db5d91e phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82742801-17b9-4e54-bccf-1a1e6b967e09 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1f0ebd92-eb57-47d2-a482-0164f900135b phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:6609e690-602b-4d85-8a19-97218f051e16 phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:9d5a12ba-2009-402e-bfe1-e44ed9796a95 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:864e7989-983d-43e8-aeaa-f67d30133ff8 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8fd8f6bc-4e05-4338-8e5a-6519b842b6ce phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c4e93841-eae0-4931-b205-07f13017f5ea phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:950ed6dd-d256-4119-87a7-2edb6fe6d5b9 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:36379717-733f-4cd0-ba9c-3198c1f8ba6f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5972ed8e-3293-42a0-a345-9d5bb149ebc8 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:355d54f8-aa24-4c8f-a04a-52936f81526e phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1649c84a-83c4-4e0b-ac60-b012ccd04127 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:25d0f094-fc24-4492-a322-297f01f254ed phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:36fefbfb-c18c-43d9-b3ee-995c810e3bba phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:37cf0ace-46b5-43e0-ad59-2d6f6c2f17f5 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d9bb8414-03c5-4efc-99a3-536d2af170e6 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:19026ff8-0c40-4044-9084-d7f781235768 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c036a37b-6693-46fe-9fb3-6d7861607ae5 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:171a0868-9e36-4056-8609-fee7f24c1c4c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4ad2e2ea-c732-437f-acb1-7cc586a2ff57 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f83b4655-97c0-42c3-ba84-89927c336b13 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8589f2f9-92bf-4adf-8b95-e77974883c48 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ad2aae82-7ae9-420f-918f-7f107d111d12 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f86b4600-acf0-48e4-923d-586800f41030 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f25bdf7d-ff1f-4a79-8cd7-dba709e45d3f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:23f00dfd-d567-4008-bda3-508c65a2ce1f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6616fa7c-6419-4c41-93bf-d5ea2d1feedc phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9a4aff0-643e-4ea7-b981-78e99f6ad74f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f111329b-4d4e-43f7-8115-ef200a7bfd80 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab0f46c9-04bb-4fb2-92f1-963b06f1d96e phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7ecb6223-9b12-4082-a35f-4c3d3c32df78 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c21bbb09-ed74-4507-b511-d3f7d4b3d017 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32589c75-3265-478c-ab7d-c4ae3e3c39b6 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8cbcd2ac-b122-415a-ba59-818d2235f2d4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:209f29b1-5028-4ec2-9a51-d2eea6aa3917 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2dd036f0-3a0e-4497-bf3a-e866156884fc phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2261dd48-d4d7-4503-8be2-c12a817e6129 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a888689-b4bc-4e20-ac87-fb399af81180 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bafe8954-edb8-4870-a440-16fc5ef9a387 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a18ec7a-d2ca-4883-97c2-8c71b3de1c20 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f27ecff0-f201-4809-a138-7e6ccd6f77dd phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4031b774-a5ce-490d-901e-76554dd3275a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d184bf2-07d3-434b-9e30-8901a5de1c8c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02a730ed-971c-431c-81bb-34f21a118d71 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75c75eff-35b0-4582-a0ca-4726ae9e9fc4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:026de5f0-5999-4ab9-a4ab-3651cc696de0 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:380aea0b-a425-4ec8-8d47-6c13c237da00 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bd694c95-17d3-4b01-892e-e3df69598544 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:90549a7d-754f-42d4-a5c1-697074d5cefc phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2f0a5a60-4286-43a6-821d-ed01513e3670 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d6d1a059-98a8-4146-8f6a-28e131d18503 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f42f94d9-22db-40eb-8ab0-47a795b4ed0e phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:204cb0b1-4773-4d2b-90eb-c9387a76967b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2263413c-9866-4c5e-a706-2099876cf570 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9e55f5b-5cb7-4623-b2dd-18ff94aa6a31 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02350f17-79f6-4e97-8178-ff9af26341ee phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:119264b4-6acc-4de5-bd48-caaad1ad919b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9996a9f-d907-40fb-ac12-c9f734304204 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50f98faa-81e2-4f58-9201-448d40b7c186 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c75ab81-77ff-4b0f-98e7-921232485954 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a1af95fb-b72e-4739-8059-5540e9767a99 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c4cd4268-1ea9-47bf-a9ad-9275332bb721 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da8ed004-44b0-45ee-8ba9-7d9bc3060772 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c1d948d5-a90f-497f-91fb-1f8a00fe6a3f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e8a50ea-7f91-42c0-a8bd-cbe4fd49b9f7 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:227bec59-99c0-4fe1-9828-fd0524d582be phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b271380-bdca-4681-97b0-31f080c42f09 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4199b0f9-54e5-4163-8038-3b7dd9dabf53 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2f61c69a-1673-48fc-8c3c-aa80d14a1338 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cba4b114-2705-480a-a841-559530575d97 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2c02b779-158c-4522-ad31-801f3f57342b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b964c0b-bcd0-409a-91f6-cabd1d81866f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e150f9ec-7b6d-4f79-987e-fd3282aa7805 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e65ed45-629a-44c4-9523-68bf8766cfca phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:edbb0a95-4300-4c47-a871-e027355e2ec7 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc7c4fc9-11e7-475e-b4c6-eefdd43e84e1 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:556a2fac-db77-432a-a397-d016e2c12f6e phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0e6eb84-02c1-478a-b5c0-de0fd38e3d6b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:346dbed3-5339-4695-b148-0b8a1eb62500 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:187e0c43-188e-4a9e-b987-6673440ed402 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e4a5d972-44ec-4e6c-abe2-60ded3479c3f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:faf133b0-f731-44fd-982e-eb8d668a7a3b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b14f3e9d-016a-4758-accc-065f18d0e150 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d495c682-6c67-4e89-a34d-f16cf9f7445f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11345dad-5bb6-4fe4-8dd8-0b6179d56a6a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:969d4ae7-f28b-4635-93d1-042402742a04 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a49387ec-058b-4c56-a16f-f50e5584018d phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1c8466f1-179e-4ec8-8fba-2e6024edb2ba phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c29a60e6-371c-4d64-9098-d7f7e0881bbb phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:335862dd-ea0b-49bf-878c-bf29b2e0814d phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20d06c4c-b26b-44a3-abaf-073ae8d33262 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7e076aed-6129-4080-a25b-a174dc1445d1 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce1b12d5-f15a-4e13-ae77-d1c8977f41d2 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:770dd45c-e184-45f2-8856-6a308a1e4893 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f4b0f587-0b08-41a2-b837-a3517df27a70 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a6be785-3d90-45c2-8b79-155fa3677728 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8c15d20b-b361-491a-8860-e2c7eaa1b297 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da3c6ced-598f-4f5b-a91b-d462b78c97a3 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6f43e818-9a90-4680-be6d-15875d1c6f4b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:168df67c-b227-40ec-9569-8a50ad9c748f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:968d030a-13de-45d9-8e3f-2d5f62027eba phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c763ad1-14b4-4924-aecc-7cb34fcf43c9 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9acf7a16-c98f-4741-89d2-50fef2e85561 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b739cc10-43b5-4004-9f30-06deb3504029 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f368d046-3b9a-4ef3-bb86-8ef123979d34 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f24fb79d-1168-4995-ba27-51b9ab326e1a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5386129-f813-4540-9741-00f94ed1c9f2 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0cdb942e-aaeb-4e8c-b095-78e58eb1dd1d phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:477a2ead-0887-419a-bd45-92ea5b17a16b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ac884de-3e4c-4a24-965b-ef8bfd0e21e1 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5780f8ce-a602-46aa-a510-e689a86f8532 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:88badc5f-6817-4c83-be2c-d27c47e0a8fd phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbd29875-fa58-4a4a-83a9-33dcd4dc7895 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:00548e11-6145-432a-a3ec-b8b0297dc760 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9376c87-bcd1-401b-a5db-c69dcd571237 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80fa518e-9afb-4bec-86d7-7a2c8e320df6 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1649e1bf-3097-4909-809f-264d48976ffc phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ea139361-d952-489f-8a3d-45e63e9ad5c2 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a75e2273-c632-4d49-b86a-1c13a3d55a7c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8a1161e-05aa-4a9a-b471-595031a52ddd phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a30126eb-2d3e-4e53-b219-86913f7926a4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:547c9653-364f-431d-9a57-7b2a752b82d0 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:690f991d-9562-42f3-b251-f46fc715f976 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03f711f2-927e-403d-b0f8-880109ad8c58 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:118b0605-7e5d-4c67-a698-d14723d4e862 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1229e11-5ce2-49fb-91ad-b98f156bdde4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5a00923-566e-4d4f-ab7d-1ec58a6251fc phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4fa395d6-32d2-4c92-9698-531f34090d3a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1451774-9dea-43e0-9a6f-ec46ddea3922 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c517ee3f-464c-445b-b1f2-72a09c79e63b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7329a72e-4065-4cae-941a-1b056821b95c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d1682e7-1abd-4bf3-b1c8-c63fa336561a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18230240-9509-4431-b558-fc922509da56 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:33ca1d35-56b9-4716-86ff-13abf5ba507f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ed7d5247-f210-4169-bb06-bffb289fb84b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74c3e894-4ef4-46c1-836c-4902e0178ffa phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82016cca-9c89-4be6-9de3-f7b5050aacbe phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3bde01b2-2dd0-49c0-a476-f02c7c2ce60d phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:94289032-c32e-4ddb-be46-7bea5d553e7a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:774eb58a-55c5-44c4-ba49-b35cdff82e80 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce2f8702-40bd-46bf-83e0-0cb03f09da40 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e65f8a92-221b-4809-9bdd-dfbb2d51e97e phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:23531f23-3978-4487-90a5-00d70e04381a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3aec501a-fb1d-4b76-a6db-7e2e8700dc16 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c96d4a49-227a-4a0b-884f-1f1ea4442d0c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1d73735-c7cf-475b-9865-b1045ca62546 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6447ac39-deeb-4e7f-ac5b-5f4d03ec160d phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cdd0a99e-baf8-4d90-9fa8-f34cf27c9e09 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:033b4518-2f4c-4377-8081-c8d8070923c4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1288aa7f-338d-4e7a-980c-dc32976b0fd0 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b7cc3a4-12f7-4669-8a3d-a54faaaf4bcb phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18a2eb56-0b44-475d-9113-313806b61dfa phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fa6626b0-814e-44cf-a26d-1216e765c133 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:026d6b04-203b-4d9c-b536-ad77a3037b3c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:61850313-3bef-4935-b00d-9fc6b5f4530a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2938dfa0-ad93-4beb-af9d-239aed29b1b1 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:84d2a1ea-f9a3-4a06-8791-5eca06d835b3 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb42ab7f-4ce1-415e-b450-6d7950714f42 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:15b209f9-2a4c-4e3a-ad4d-8c9f202f5318 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1cec50b0-69cf-4028-8530-7dedcf4dd026 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9091fb13-8513-4b16-88cd-6aadc8fe84a6 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b287a875-a95f-43bc-8e3b-5bca27e0f0c5 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:debf98ec-a5a8-447f-b0cf-73cca6da5645 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e0c3b4ea-fdad-46a1-8342-577d487d6833 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9aee0618-cba5-4a8f-8bb2-38d7a113f7c4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:94deba98-a66f-4ed2-9fbb-11a2beea093b phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:deefdfd8-5fdc-48e7-aa72-78d43a2b7b8f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1c294f1-ca63-4689-bb7f-05eeba26e800 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f4203ac-53e6-4fd8-a9eb-70e14932e924 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:231fe67c-f427-4efe-9c63-0de8adfdfd32 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:308009d9-8100-47a9-ab8e-947cd4105f67 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dad48104-c089-435f-86d2-dcfc5f7cca09 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b5367cc-71e5-42fd-a554-b92aefa8802c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e940bcc9-f592-4308-acb1-0a9e4417be45 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:31b50b17-c19d-4835-bc94-5301fd0003bf phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b4ca4f2-09e9-4abd-8708-93972f985593 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e37eaf2-cb0a-442d-b724-93414ae50906 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b5ebcf7a-a102-4891-ae59-4fb3469029f2 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6eec3c62-e47a-4e6d-aadd-3fa93d28b19f phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfca4f04-05ad-4c8e-ae25-9a3dbf92ebbd phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ec414282-0369-4ef7-a08d-8a2db393f90c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:14572aea-83cc-4355-aea2-a40b5dbde2b1 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c39239a7-11a1-413d-9caa-3817b95ea1e7 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75e3050e-9521-4838-9fb7-c86a592a7245 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:005dbafe-fa22-473f-bac1-f1ab5f39a559 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ae5595c-dca3-49cc-9693-ae99657f8c7c phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3db83fd-b6f4-444b-9799-4d97108e3779 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:76ce7320-829b-49c6-9e78-c64cad97590e phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:63a3761b-2e3a-42f6-99e7-4fda1e13e2c4 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3efca2a6-805b-4915-a66d-f518564c49fd phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0084b0b-6f08-44c2-8bbd-b30b37e7a70a phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:93e67933-2097-414e-9e5d-7d1d978e7ef2 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:10e91a7e-b58c-4bae-a869-75ed55094ef2 phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:271faf0e-0cc3-4c85-9da5-018abf62ca7d phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:7757f585-eb94-4ed9-ab55-027ada6d330b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:34ad3538-9b53-4bd4-9f9f-d9730a7a5027 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7dd5484f-7a2b-4d57-9252-6fea622670cd phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:617cd1cd-788b-4e30-83e3-52d89d27a24a phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b0aab0d0-2f99-491d-a83c-fd1d8fcd1cc5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5d9cce1e-087f-41e3-9301-bc72359021b5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e8e06ee0-0812-4f4d-a82f-6d5624b38e6f phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:97d7920f-c50e-4811-b08d-5190a4d6639e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d9d0cd40-433f-410d-b31e-1459e9d704ef phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ad3be3e9-3c7d-4b67-bcb8-53ef7ad6cb50 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e8b6bf82-4986-45c5-89a7-612bc5177d2c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8e0ad410-b179-469a-9200-6fe6ca09c8b9 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a300b6ae-899f-41f2-a8bf-6b10c7060af5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:586f9433-ffe5-4cd5-a273-29f163c315bd phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5bdcc4be-a6f7-45a2-82cf-e2e1debfdd09 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e569022e-4ba8-4475-9e85-6a807c7c6340 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bdf5678c-927b-446c-86f0-7866f3e12015 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:32d1c205-44f4-416b-bf58-381c142b4bd8 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a3d6ecec-4829-4f8a-ac81-1ffbe31d2079 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3027be22-9e7b-47f1-8c0c-7efb004cac69 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6ec3a21f-7775-4482-856e-11af80519802 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:2d78d4b0-27be-4cec-90f9-0045d3423a3d phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d44ebfbc-8a89-4ede-a5ea-2aebf29db88b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3f1d5723-c736-419a-b9f6-4e739850b291 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3c4cfeb7-36d1-41dc-b8a8-ca08544f029c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:42cc9e25-09e4-4a41-bc80-6c6812b03f74 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:df89ab11-6c06-44b7-8f21-fa9ea4addf6d phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6db637fa-27a9-400b-86bb-121bccdcc2d9 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7bf203df-7abf-4b66-b60c-a64d140b6e30 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a487f024-f792-498c-a17b-1cf362d024d7 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ace61a0f-1d6c-4ffc-8592-83965545391e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:23bfe31c-bd8f-4436-b0fa-5aaaaa453ece phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d6d91579-f2e2-47ea-9e9c-2d005ab8721b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4e9c3fa4-ff65-4560-aa34-1778f952d278 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d9dbf84e-2bf0-4326-81a0-e9be9f15603e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:62d7ae2c-a32f-4903-9417-07f46d95a517 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7aa899b6-7ce8-473a-bedf-3747f404ab87 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9d1f6ac8-3103-44f6-ac73-0fdef00ac40f phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e93f1ec0-7be8-477e-b31e-6a579fa36acd phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4b56afdf-9ac1-4faf-92c0-b3ac61c35319 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:52528d16-0c6f-4cb8-ac70-585563fc6e19 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:78f832a0-9631-416c-ac17-55202b389558 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:218d78da-e0a3-4471-b608-77f0d940e902 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:864c51eb-34b4-4e0d-af2f-66b29e745683 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c084c9d5-5a2a-4779-ae02-17448898bed8 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bbb0e6c8-f35a-4a2c-b783-61bef2e77bf0 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1bd80fd0-142b-434c-a0e0-b40173cf7e0a phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ca8f2d8-5fdd-45b6-a4c1-ee2a32a0dd5c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b509c5e8-934b-4e39-ae5f-bb755a8c1817 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05a991bf-4cc2-4140-be5b-1f11b33bec09 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1e56baf9-052c-41e0-9cc7-20cf32b725fe phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1b813110-f896-4d30-9c66-c3a74afe40b2 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4241393d-7761-4c79-9910-3feeadefdc3b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3b1d9973-993c-4315-96bd-e8b746952827 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:430f4fc6-daa9-4399-b022-9b3f77eb2725 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55b66f6b-169a-4f90-9a13-44181b8d3c61 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f58e237d-2c56-4cbb-8cde-2621eafd05dd phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab11d2d2-0dbf-4457-b589-4011779cfd79 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c74e2c7c-ebc8-45d5-b76f-f57875efb169 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7d77680-47d2-41f0-8c3a-4b0f97579290 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:140832f4-c01c-4573-95a6-d86b9081f78c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a701f76-af6e-4fd5-8b61-1ca02e83d71c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:697f7752-100b-4ce1-aa14-0216227cab95 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:efd38ad9-ca6d-48f3-8878-7bf239e48f26 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2cd3223d-41a5-4fac-83c2-1bb7791a5f37 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:065ec8b8-7aa5-43b0-8ff5-0fb1d5997c49 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ef475ba0-d45e-45c3-8060-fce5b5b4fd39 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7afa2d5a-b223-401e-85c7-bb8f3f7a9df9 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:76dd1d63-a7e1-4c52-b6f8-e995bd733711 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3a3062fb-c330-44a4-80a1-e301b1e6ca9b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac059dae-3f88-4d05-bfc8-6b144765f4f4 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:14b57c6f-76cf-4502-a64f-4d67119c3341 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a38e4c28-1682-4b05-bf69-b77fff8d6246 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a893d37-96e3-44cc-ad41-b5c53584b71c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d92aa3cf-0d76-4de0-a640-52759d1be0b6 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99e5a3d2-1769-4010-8834-a8593977fde9 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4aceb3a4-af75-4655-9012-e9c1aebf16e5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26efc67e-6bae-4bd1-81ee-c41c9eda0eb0 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:21b3c8e3-31f3-42b6-bfb1-dce70d47fe2b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:774c1809-2866-4cef-86e7-ea485009b7bd phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66aaf215-15cc-4009-bc1b-ce01e03141f7 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bc461ce1-d293-4eea-8bd7-fc4ca94b2d82 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7b8145cf-1cf1-464a-a2fd-c8939f792ef1 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c5767cb-3e09-43f9-bdb8-36a352df63be phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f05ee97f-bf06-431d-bcf4-69ac2e0147c2 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f7fbd55c-e86c-4d62-aea6-307a510abdaa phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7401e29-7685-470a-9cf3-1282d9b9bd43 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9fbf7e43-e4ec-4e50-a3cb-e563c06593f6 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:89eccc21-f11f-406c-bf18-9f22f04506fa phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2f366e88-a3d1-4e9f-b67e-fc4e72bd0ad1 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1d9fb8ac-4f74-44d9-8f22-85da5bff084f phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5c8b2e92-b942-4c23-8398-ab09414c1888 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd9f99d9-bb2e-4d54-a326-91b8396fe309 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ff91a96-883e-4480-a750-d8661af0f529 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c7d329b4-69e7-4ae9-965d-f757d8be85d5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c72230df-f521-4b91-af68-8266052de1d7 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d09f46c6-e153-4206-96e8-23416e18d6ad phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a1a2a572-42da-4efe-85d5-7d83bdf23620 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52b40efc-76d4-4b6b-b15b-8032720143be phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be3e74dd-f998-46a7-87ae-e3177fc24ea9 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29dbbac4-6f70-436d-8ea8-5f9137ec7785 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7d0b60d8-49b4-4c0e-af3c-4048496de454 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:092408f3-b5c3-43f9-bceb-d89b79d68bff phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:85e2598a-15ca-4ec2-9324-40c3d8cbe3b7 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4306078d-d3f6-49e9-bdde-6d2347d49539 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c49f9d3-fa25-4f81-8121-96d5c02e7dbe phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:95894f27-1aa1-4670-98e7-65d10003a080 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:34269839-bbb5-4703-9369-8cb67703b747 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:682d0fc2-a938-4432-b414-ae99ffd61502 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b2aafe04-4cb2-4a99-96a7-ee4f0833d2b6 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:14cdcefb-7bc8-4ff3-95fc-e354623b9743 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f97c9ba-a72c-4afd-a0bb-ac33609bfae6 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3465c068-92cf-48ea-a98a-df9cda2da064 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:681718f3-371e-4e38-830e-d7376183047d phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b09af78-429d-4f7c-8c94-f8f823fa5969 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:310e465d-62f6-4f62-8a37-94f1cc4adf48 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:109eff2c-f47d-4d5a-a530-145a32bb0626 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e84e111c-045d-4eac-b4b1-5d2a380af5a5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1b9e46d-ee0f-4308-a47d-a529fe13ee58 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:94d045eb-0917-4f5a-a2b9-8165dc4998d3 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6cd1a066-2e95-4921-a427-456cc4f2b916 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:084985c9-c1f0-4a6e-9eb1-2226b61e72a9 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e67d7dcf-0486-4f46-a6ac-15f4a30eff54 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb4e10e0-621f-4de2-80fb-1f69bcab96e5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:651bd91d-bcdc-4432-ad93-90c02056d0d4 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f89d5e14-4244-4ed2-a04a-0090cc84aa2b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26b74580-12fd-47ba-a666-e393b299619e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ea9fe7bf-6501-4964-ae0b-2e31bf4ce510 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9d585cb-b9dd-4f1a-a351-370045a202e2 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:975d8cca-ecc6-4111-b1be-f9940016d955 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a4bf418a-52ec-4996-beb0-c62e621c7f46 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da0438cb-d2a0-4c8f-afcb-8bb1ac1e9e7a phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2fecdbdb-5f63-4ad2-92e6-887a44169a47 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:acbe7e47-9413-4d78-a1a9-698431178397 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ca309bfa-6e1d-439d-82ab-49ebe1363efb phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a1e630a-1de2-49fc-a3e7-b5bd1e601432 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96dac112-2e65-4a46-b217-c29909a55281 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:08955376-f2e1-42a4-82d4-d28fa9f7b5bb phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e81b460b-217c-4284-ae39-19fff544ed0a phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ba29cb82-ec61-495e-860c-8cde23473bfe phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eccd1a96-95a5-4ee2-babd-c2c5ceddb1da phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6cee0ddd-2859-410c-b592-db03e9bdb3d3 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1c541cc9-fe82-4890-8b4b-8759171b8fc0 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:09404e78-66a8-4f82-af8c-d7ae400681b1 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73fbc14f-230b-4376-8d9b-003aa307d150 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f73df82-67bc-43ac-9119-b522071b1763 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53df8ec0-1f83-4417-a7b2-08c61e14dffa phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:81708224-7d8f-4c94-9648-cede125d17a7 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a65d6dfd-1054-49a8-9fac-d6468261eb2a phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e45ee6d9-43a3-4ac2-a1a9-711699e61624 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2ac7c47-d224-4428-b32e-fdd119f5eae8 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1c3f9c70-da86-4388-806e-b1b5348bd5db phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2b35f9e-206c-4e84-8a71-24656c0a87bf phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cfc70912-f3dc-458c-8b27-49d3002b82e8 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80e4f01c-f2a3-4713-a623-ffb7fd8e2432 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a1922b0-8a10-42d9-afa8-fab58e14e805 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c38958a3-305a-42fd-b0f6-1a7a5b065481 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:39c63550-a661-41f2-be5a-99687e6f78fc phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:45603389-8774-46bd-b658-7a16b0d04a24 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:68c752e5-4c96-46d1-8ef2-baeffa21818e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0e943343-8a82-4827-9019-3d621d93ebba phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1dd456ad-b5e2-420c-9ff1-c17cb4043257 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:710acba3-db62-4654-806e-c2885de95f5f phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac1edd07-cce4-46c5-9248-12869cfcbb3c phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bd680413-602a-4c8c-b29b-f6856ced402a phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4cf8f795-525f-477f-ac1d-8bea0d405b11 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:56574850-f1c9-417f-af09-c3be0d434c28 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:07d2013a-e7e6-4452-b638-704c6306e93e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cc0b2fff-6f2e-497f-a216-1bb7530e57d5 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fa2edcd2-f96d-4416-b89a-3c6099be0019 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c9d16eb8-95d2-4097-b334-db9361391319 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4de76e89-a8b4-4816-99a1-22fa14119a12 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0399851c-60bc-4285-9de3-eb9bc7da3a5d phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a8e512d4-f775-4433-8425-839b65def502 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1852e7de-c229-4563-80d6-0715f2a59dcd phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a261d048-5906-4729-b13e-cae628c56aa3 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02d12f04-a622-4756-8fa0-ee21a13881e8 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c99d4bcf-153c-4c42-9742-b6e0f69090be phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74d1df95-a107-474d-a5b2-a8e624e494f1 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ea190bd8-f4c2-4354-89b9-2476673ec016 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e03ba55-a0f6-420b-bc1b-9c05caf45881 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bdb47cb3-acba-4658-bd3c-d868d4fe025f phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53f438c7-ba45-43e0-a7f1-1112f986872b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01b8dda4-da37-4df5-84dc-a729d12e3a0f phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2541e36a-fe1f-49d9-842f-595fe1ba6a41 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8db1a07a-c1fe-4fc9-8dc1-88c5fd2350f8 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db316a0f-9dae-4f36-94a9-feefcc38dce4 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e65f92c5-f842-400a-8585-4f64ed95de5b phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:47bcecf1-9364-49ad-8b46-d5d93aa33f33 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99b64515-4d6d-4430-a021-4056d0773e8e phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:298452a7-ffa6-479f-948c-a34969c1cc44 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18364993-20e7-42ec-bbd7-fae797aae1e2 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:47698f17-a39b-4415-98d1-3b61e9b52d14 phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:781c9587-bf75-48c2-a9cf-29ce1d89d20e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f367a388-cd7f-4f60-b3ca-f1156236bd2d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b1a40ef2-fa89-4783-af11-818f63a1853d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:38325380 uuid:f519f6c1-5e0b-4192-83b1-c706042684db phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P23Y infores:phenopacket-store PMID:38325380 uuid:95578af4-0699-4b7c-ab9e-c0e81f64dfee phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cb1576b2-4a68-44b0-91ff-bf2e01e260bb phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8138e427-086c-4572-a422-6c33c4ea32af phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1510cc30-f484-4f76-8aec-31f1835412cf phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:29c561ab-9a35-4c85-b959-2cde46286dab phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:927c9f0a-d74e-4aeb-92ec-adc466c15d3c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ca1158e5-157a-4f80-906a-a03c2ee8bae0 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cb70b463-772b-4d16-9e03-5b2e9921e64e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a8ee621b-37a1-449f-bfac-ee501be7a814 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:367e5168-b99c-4456-9e70-c207725af612 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5b9ef84b-9ec4-4bbd-9867-a7a575aa086d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0b980050-2db3-4c8d-952c-604d24856eb3 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:841429aa-eaba-463e-869f-879c5b3677b7 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e88bac15-3f72-4af6-93ed-3ac7fd166911 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:af918fdb-6763-44a5-b0ee-4e9b01f4306f phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4703e324-8fbb-4092-a5f5-f239a61d66f4 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d476840d-0cba-4fdd-80c5-e58fb7f8af5f phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a1df6932-5736-4cb1-a249-1ad189c26d37 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bd5d56fd-9d6c-48d1-98fe-e21e03e21ef0 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cd8939ad-8c4c-4cbf-b5ea-783792d8563e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:03a58f03-698a-486b-afd4-e07f8c7e4101 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b4e90e14-3b2c-472b-8bce-d8938ec2d400 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e01ee250-99bf-4432-a1bf-a836d1d154e0 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:dff49c11-cf13-4d5a-b1c4-3baad996423d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:729904a0-c6fe-44f3-bcef-935663c93682 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1a851951-674e-4097-a8c9-04e5597fb476 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a42f02cc-a591-4567-bbfe-12f74f987c5d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:db35d2cf-5086-4955-b21c-d2e4ac02397e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8ea6ab17-1042-479a-a586-aa3a359eb8ba phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1c639b90-cde4-4814-b976-e011c1e3c704 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:21329671-08e9-4ce8-bbe2-9d1481c2ed6c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ad38974d-128f-4a32-a68b-f1685747c089 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cd55b548-3186-4a0c-aac2-3fcf77b0be6c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:23789a3b-3670-4951-9b97-b9aa25eebe0e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3c86ee07-b7a1-475b-a1af-1de923ed921e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:523cfcce-1f4f-4a02-bc0c-bc4c02359132 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a7eca1a-c49c-4acb-9a1e-615f7c4641a9 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:45605f39-7eb5-4dc4-9b6c-abbf82cec9bd phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:849cc277-58d8-4ce4-aa0d-577289ee5c83 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9f3ed05-0127-41fa-88b4-fb4cc347b869 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d01918e7-cb54-4ca1-b6fd-00d3233d1eeb phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79a02d02-d8fa-4411-8d44-a8f058cae184 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ff75b4bb-438d-4223-9af8-b450593c1cb4 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b66df020-fce4-456d-977b-75153bdf836e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f3a672c-01a0-4a43-8a11-b4077b2ab692 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ba4ac01-73dc-4c06-a4a1-a633f9fbdd48 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ff9115cc-96e2-4a00-aa97-856341866e00 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:23cdfcd7-89ba-4a65-a7de-6d02acb91f65 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:69905a34-41da-4db9-8542-038986e09b3d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fa6b4263-fdf6-408c-b243-e9e6e5da87d4 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe0e0a0e-12b7-4640-81e4-90f7de10dd4e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:84a77a21-d9e4-4be9-ac43-324cb311e5ee phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:365e35ea-edef-43c4-a870-de79687b15d7 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5e73c189-63db-4e94-823e-140e46cc2f68 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96ba9d2c-ad5b-468e-b0e8-ca981e83e6e1 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3b64eea6-17f2-4a26-9f8f-976f7793601d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d4209687-2723-4025-ad36-7b26c9481e40 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe93817a-831c-43a7-969b-18e23d6137e6 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4bad94ee-2307-4704-b471-3345a507ea2a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42e63aef-83bf-4f62-9e2a-33753ab0beeb phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:51903638-8a21-455b-8417-e90ba8bb7793 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:639e5a3e-9edb-4bb9-8112-adf5871d9e5f phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a49044f-89af-48c7-ad29-2e669fe7cc5c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7619dffe-506f-4071-8e00-6ec59d3c6f1b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74412dda-f6bd-41c5-905c-bfdcff84d6ea phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5674dbd6-32b1-4eee-b74d-cbba8e25928c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b220e29-5830-4fde-bcf4-cba5f1fa23c3 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:58720953-92a1-4ca4-a765-a0b010a43414 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18561813-35e3-4c8a-b9b6-58070e98fecf phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25c883b9-9171-4f27-9eeb-473a76febd13 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0ace4863-b794-4a8b-84d3-da4d7caf5a4a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:feb8eceb-6eb8-49c4-81a6-7a4c4703b342 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:246870c4-460e-45eb-a8c0-23050b58f6bd phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df3ceb5f-a1c1-45d5-8b85-1dee2e720d4e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bcf0a345-e77e-42c4-a43d-e77b60ec888c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:942ef382-9d37-4456-9861-35c587d0b675 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:45b74c65-aba5-4fe9-ba94-8c807dfb2f38 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5f7492a-a92b-4040-b27e-d56723b8f7a4 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64934910-8722-4016-88ec-875e6eb83a3e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:38ea47bc-5b5d-45a0-a5e2-2dac26663bd2 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b52dbd7-12b0-400a-a6a4-89b279cbed27 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79cf438b-6734-42a7-bab8-04e564d3f9fe phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f35ed0c0-ea41-49c2-bfa1-70a803e21b10 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4f0ad4cb-4f89-4fca-bd24-4a42ffbba751 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b4382bbb-b8f3-449b-a77c-2edcd8e038e3 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a6b18c0-b03b-459f-9e39-64be349512ec phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b336ae93-0c25-482f-bcce-9f75c5df07cd phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f7429a6e-ba32-485a-b0c0-0b2d3a5c046b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3d1b114-28fd-40d5-a845-d3a68d48ec3f phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aae05f6e-f149-4767-9cf6-770394892c18 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c30bdcc8-510d-4c0e-9909-d2819c3331a7 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:21def237-bd1b-4688-83ea-2ce00c1cf230 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab744c98-2664-4d85-abcd-d6df5f32048e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3278867c-0667-407d-8542-002e1aa68d6c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9a1f359-d8a2-4ac7-9e40-69556561a5c1 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b303e975-5e31-4b42-b5c5-9fbea9906796 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b975ecd-7743-4ce2-90c8-a46930b1d88a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:12c00d71-544c-4862-bef9-3453def31c4c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2d0bda43-d0f7-4248-8ea8-f9d72e8187ed phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3b478ee-6537-44d3-9ac9-da59d7a0968d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:caddd4a6-ca40-44d9-b7f5-1e3d882c968e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bbc90fd7-2957-4383-9720-ddcde252b945 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9d3e0a4-6109-4f11-83ea-7097d9927caf phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29a75124-bc26-4a84-b06c-b13376347614 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f587d0be-408b-4a5c-baaa-a62a64213e9b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ca612ed3-32ee-4894-b675-071088e39062 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:188e6a09-0880-4f90-93a9-039be7019a32 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5acb9bc2-daaf-46db-8b0d-5c05a31b985a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db3d7b58-5605-4763-aca4-45d4eb44c919 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:097cb6f9-d286-4e7a-aa94-607aa54bbb59 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cac431ed-5985-4219-8dfb-52d1c793f511 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b61cf652-827a-444b-9313-709b9187bb54 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a33a3a9-12f6-41d1-b400-504b998e365c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d4a41b2b-7588-4d81-b811-94f702560b12 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5fe0e3b8-40c9-4355-9270-95ea46d83c68 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8658a53-7bf4-4a66-afd2-e555c85d8b88 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f47852d1-721c-4de0-99ae-74e69ffd7fdd phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ee11a50-5f93-40b6-9dc8-2b8574ab409a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c4856a76-4290-4763-b46f-2aa1875cb12d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:316c14c1-b93c-48eb-afdb-c02784d4aee3 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:533d40ec-0611-4dc9-92ac-fbb61d879bfb phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5cc03ebe-f098-449c-9cf7-43a5274b469a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f2d3ae65-05ee-4755-b409-82f33fad6752 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a8b3e83-26dd-499f-8c6b-03dc971dc1d7 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:143b5227-0f8b-4726-ae32-b37550c02f85 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7f7ebeb7-0e86-4c01-b9a6-cc355ed16d42 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0e858f9-bf3c-47bd-974b-037d5d7170c5 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da9e4a2c-ddf0-4b81-ab3e-fcee19398926 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4aab7993-e6f3-41b8-9caa-59c1c54ff5e0 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:84f881dd-e8a7-4141-9196-e1d1395b5bcd phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75d088f1-20f3-4bc6-b61b-bf51556c81e9 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:78c7bef1-4346-49d2-9d5b-83174938ea90 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1ef2bb19-ed9c-4da6-bba7-3189c59a61f8 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:646addeb-b653-4e94-b9f8-09c305d932ef phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f2157782-b4f0-4ca3-8e89-cbe6cac1c4f1 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b504817-0c28-4cd6-95ca-d37c8f426fd5 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:090dec03-3d74-4f21-8095-474ca863c060 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24b2e945-db5b-4f87-ab23-84b646c2c30a phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32f248f1-382e-47d1-9014-df13445dc550 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f1d3e78d-c832-4042-99a6-ab7262f9f97e phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f8279628-a60d-4573-9e31-47a39ff2676b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96706fb7-b305-462c-ae84-8a2f6c8af21d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28e646df-b58e-4c05-88bf-c1d43e01b3b1 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75ef6046-a18c-42c0-a362-58b6757acf4d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e54df42b-0eda-4f52-a4ec-5acc460e4705 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:931a0867-d4db-4fa0-9a25-ab12cd57cb65 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82d5b8b5-06eb-43f9-a746-a6b710f5443c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82dbc330-d71d-4624-be7b-ef215bf74a5b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a050f74-fbe4-481c-bdc2-d119de6c272b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:304f1d2b-7aa7-4838-bc47-2631dcb2babb phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:58e8d377-52d6-4d6c-adae-7c0390d89aac phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6cf25ba4-345b-4f81-9f71-4c383f6b5ad2 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ff5bd26b-6734-40ed-b3ce-883c07579eb8 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8496749-cd5c-4dd5-a434-d061caf4c021 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5409499f-04b7-4bb9-9432-0b6a9abe2cc8 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e34ea47e-0306-4249-ab8e-8f9a0c6c664d phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a97a5431-5de9-47a7-80f9-3d7859f27721 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8595af33-7a3c-424c-b113-c323d7eea8df phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a64d4416-4017-41a0-a435-4a1deea9e13c phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4345247b-9851-4cb0-8c5c-82b496a1453b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e300c32a-b127-4c5b-8660-a43e8b58f090 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c2992d8-13bb-41b1-95a9-950e6248ba33 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ef139c48-b56e-4f8b-9032-cbbaa70e1ee5 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:62295a43-c04f-4617-9f15-d865914e97d9 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:21d0ab0a-c382-4a95-b7da-b5ec36b15af3 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db704d0d-09b2-4a50-b198-0e2d5d39cdf4 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ff4b42fd-ba2f-4218-9c66-4bdd673603ff phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a18821d-f8d4-4f39-ba53-e6aff2dea601 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc822778-3512-409f-8c7a-f64e04a105e9 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8c72dd3e-2c7d-46cc-8c34-2cc66889b6fc phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6dd94ff-04ec-4908-ad2b-d1e1875d62e2 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a303dbf7-2161-4982-bac1-36e35a857f08 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0081282-c726-4060-ae37-0d446d054358 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c5b38006-2401-4128-a8e6-e7d3bf7c286b phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4fbe171b-ca41-4972-ae48-02066cf33223 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aef9d37b-6b06-408e-a4a1-e1fbc0bcb312 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b573b5a-8e23-47de-85e6-95a0923617ad phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a1df994a-db5c-4eda-bb7a-9f0f3bcee112 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0185cc36-0f56-439c-be18-f6ef69b253b4 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:1d0c2c48-9c1e-4f5f-b5dc-96962674d2b7 phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:72a7ac30-5700-43b1-a19e-83cb91389011 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P51Y infores:phenopacket-store PMID:39056049 uuid:417b3556-c920-4abb-9468-c151c387ac6a phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:5f1edb8b-2492-465d-9a0d-043b32fa59f4 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:b27f590f-3ae8-48fa-a5bd-e1f91e314b64 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:60256ffc-c3cb-4404-bf01-59efabf478e2 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:3cfea23d-6d82-4acd-a2f1-2f0fb02d2328 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:6ab6d24f-5a17-402b-8023-6d4dca3374b9 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:292a460c-a572-452c-8f7e-e05978e742ba phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:30f788e9-dc7f-43d3-bef8-d634de7d9026 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000939 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:dbffa409-c125-473a-934e-8d295635822b phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:40a00f87-a728-407b-95bf-e5ddc062f8fd phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:551a6ace-bed6-47c9-871f-e7c4b229439c phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:9eba3b45-18b6-4d6b-978c-e47598ac1da2 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:c2561ff2-9f52-46f9-b12a-dc937b0c52a8 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:31990204-325d-4727-8708-30855fcae7f6 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:a9c23846-51cc-439b-bd2a-2d5da66fe1c6 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:e87f4e40-6bb6-4f39-a3ef-cf7c03ebaea2 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39056049 uuid:e65fbcf1-6faf-4cbf-ae79-fe30bbd0e51f phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39056049 uuid:23e3148b-96ab-4e9c-85a1-dc636c8a7e63 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39056049 uuid:eb28039f-a725-4dce-a366-505d4e0ab56a phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39056049 uuid:8d260ce8-7247-45ab-945c-a8eb78125b4d phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39056049 uuid:6b73d7a6-1278-46b7-87f2-d5dcd39a3013 phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39056049 uuid:47b5f313-4562-4e0a-bba2-b0167db5bc28 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ce68db50-4b0b-4b91-b24f-4261a7b2a4f6 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9d05d53c-97fd-4b90-be58-2fa7a0c79f67 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9246d0b4-0569-4f7b-b834-5489e6d5d0ca phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a5541bd9-469d-4825-a965-fe680c8186b4 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:998a0e7a-7554-4379-bda2-e3128b6fb8ab phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:30c3cf34-91c4-4ae4-8ee6-95d374810576 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6d4f24e2-d1e9-42a6-90d5-2d129f2fdd02 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8ae017e2-3333-4fef-9933-9675f33cb201 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:509aba07-d8c6-42e6-9919-241331567d53 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d2ed95bc-bcec-4f4b-b739-2d863a567125 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8a268c26-524b-4575-a038-c33e6a5811bb phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9ad011a1-6767-4067-bf94-b94f816d1a90 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8b360551-dcea-45c4-a2e7-563695cc5ad8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:719af270-f5d9-4eab-8665-148b88ecc284 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:13ae24f3-a818-4f14-8099-eaab4fd48268 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ee1d5c85-52fb-4ee6-b7b7-d276c4524f13 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:03cd0446-c661-4dc0-ab7b-f409c27ce0f9 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b4751eba-1c9e-47a7-802e-80e2ce1ca056 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:71be4d8b-c751-426e-9066-687f09be97f5 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ffe50a06-b4c5-4cf7-b79b-a0cca4a941d1 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1cefadcc-4a64-4529-97a3-f3eb4abde67b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:29345e21-0463-429e-9395-26f5a607e641 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9965d12a-056d-4e58-9272-a76444d75eb3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6af31af7-a20a-49dd-b265-e61dbcbb4073 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d5e451d5-bdd1-49e7-b0f0-7bf68d0ee70a phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:416b15cd-dfcb-4a9d-a7f2-127b4a79116c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:09a78c87-fde4-42f5-97d4-e2a0a2e92471 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a974bbc-49ed-4eb6-bc15-e77af5f73b3c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e2dfe27e-8ae6-4f34-b74b-ae65e28d8c90 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bec8d64b-2c12-4cca-a14e-42f44a237fbd phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3bac27ac-7ff3-43c7-9803-e7886305d0c2 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5ca09312-1b72-4b6b-919a-7e19b51c9599 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52dbe2ef-d46a-4a0e-8deb-c1b68cce4bd3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:beb5b20c-e417-4acf-9048-f2e32f909740 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:150899fe-97b4-4a3d-9848-5f451423dadd phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0bfa699c-681a-41d2-b401-4eab5904fbb6 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ec08663b-ff1d-4d3d-b43f-d1f4bb61c1e2 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b75addc7-9987-456f-959c-588dd8bcfb42 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74b772cb-b41e-4837-9e9a-3309497a2170 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c837cc09-03cf-4370-a30e-992f284587b7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70c99cb0-9305-4e43-88a8-baee7aeaece7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99254d31-60cf-43d5-a0ab-86e4d375e6d6 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3acecaac-aae7-4c62-98d7-971cb7a18d8d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dadcf9be-1e41-4b02-9c48-173cd1790378 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db4c452b-f9fa-4bda-9ce8-9c5c10dace95 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25c5c09e-e145-4038-9fef-0e1950b6129c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:270cf7f4-0fe8-488c-a529-7a441db2574a phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f7efcf3-dba5-4bbe-bc34-e63a7065ee38 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd063bd4-ba53-4d0d-8d17-3996e26433ed phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe8a31fb-44df-4bfb-854f-ca1bd2ceacad phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c212d94-4147-4ef6-8e28-8dbcadd4b7ff phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82fc3518-d06c-45d1-a319-a8cfe94fa185 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e3ce2d5-3055-4b59-b6eb-a0cf07e0c3a3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d42d0ac1-a233-454b-b12b-834d835a61ca phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:65efb2c0-13c5-4576-9e4c-b5bf6fb29e64 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e39e7993-4802-4062-826b-699694229b06 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4053bc1f-9ab6-4900-97ef-c1d24737c56b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3bf63429-912b-4bb6-bcd7-c2fdbcfe019c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50bde8f7-563e-41f5-af44-2704b1282fd8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd7024c8-f4ca-4af5-aba6-108ce8dae849 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66030b41-c27e-4c3a-8e22-cd7dba971582 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:802cc712-317d-483a-8a06-2b84c7a89f04 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a062d8b-fe0c-4f8a-8fad-c344dfa65839 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:94667655-1f0e-4800-a3b6-548ff7f1836e phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6500a9cb-9368-4da4-93ba-cff4030f9b53 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c1695d21-308b-4803-8a69-95d03cc37f1d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06369df7-dcc9-45a8-9279-c67a45205cbe phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:523c2af2-2296-41f5-9676-d5e660acd84c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:67e5c718-92b2-47ec-a2c5-36fc506af363 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0ede620-f555-4328-a947-e53b4a2a9ca3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8e74630-a00a-4d6a-a1b9-e48687766621 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b93e7cfe-79d1-4f92-923c-1671ad2fa3f6 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a5e306e-f97b-4241-a98e-8e0306ad7f3b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9db3f3e-0d24-454a-a691-4e808cc1f134 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7407e52-f368-4ca6-a5b0-f56dc648669b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d88ff321-6d54-4962-a9ea-768aee92c9fa phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fac34a74-9146-4d64-8be6-9a6bcfa3e377 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da546ed2-8314-4f34-9b62-3592f607bbea phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:edc54a2d-0355-4309-9268-0087ff537552 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:61559ae1-2bb4-4153-8d5a-fab0df2f1fc8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc4e9241-a49c-4136-a6d8-c4d98eac31f3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9454b54-e7a7-46a3-86b6-688ebfb46ebf phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86b7093d-2633-4834-91ee-af30d43186f0 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b4ae65c4-3c41-4c12-a226-325a0b4570db phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:af5779b7-740d-4dcd-afee-daa1f7064ab8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96bb2d55-358e-4cf1-95fe-61fbe2f03a59 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28994159-76a7-4f86-af42-ef1947db8307 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aefea22c-f2da-4e18-a32e-3418ceaf9a18 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5d91fa6-573e-423d-9f21-98633a57e88c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:94cd26b8-1bce-494b-8909-9dbcd9bd58a9 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5db21734-2818-42be-a3a4-9bbd91264ba5 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:073a304c-25a4-4ce2-8e58-c01fc1c089b6 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9778df3-8574-4e6c-a628-d578aca628c3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:195a2f6b-c4c2-4e44-a910-d2fdc7769d89 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a270bf6a-1f69-442c-b79d-b13dd44f58a5 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3ffcfc7-fd75-408c-854f-20287328e1a7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f89ed65-e3c7-4beb-8362-3df32872a234 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:91a8ccd4-c785-4162-8fc1-f36bdb4f670d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:519b5339-0863-494d-96ee-0b6907ee272b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e8648c3-f454-4dd0-b348-50b7496ae893 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1d766fc3-9d1e-4be6-ae92-a1b5c2ccf024 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a074cdf0-ff20-41f8-912d-9d7b313e9975 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9bfe14cb-03cd-486d-8d7a-3d662fdea64c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50ac5a2d-c4f4-41f0-a16a-e45fb7489ece phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd0e811a-f0a3-463a-9135-9b90e9cde9c8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db76dcbd-042f-430c-9407-37abb6e77766 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:041e42bb-4d33-45e4-be84-073cce81d454 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f276c4b2-6a01-4c68-9116-19cdd7d0335d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc545b4c-7993-424b-bcb3-22b4756c8105 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cda600ec-ebd8-48fb-9b78-2de6558f8013 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1958cf9f-1cb6-43ca-b5b8-a5fd16d068e0 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f836c4d-dfed-4985-bbe3-400483426645 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a18761c9-eef6-4870-88f1-9e36ec2ac04b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2923e8b9-c441-47c5-9e79-7c64124bcb23 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b3be31c-ec22-4a84-a8e3-92e5252b6f21 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8463d622-cfc6-445e-b5f3-239511dc0688 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6cc1327-2386-4c31-94ba-194fbcc8b029 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66d2f7d1-ca2f-4d92-a689-882445cde539 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:233dc137-d295-4749-94de-f0d47f2eb99d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a6de835-6a15-4926-97b5-9ac6f2adfefd phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb3e3e81-ee91-40e5-9200-30d2f80ad647 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4cc17f91-6d39-4166-b57e-8c1108b8b3ff phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:feb4a666-e79e-4e01-aab7-44ebbaf798d8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5ae5f79a-1a32-4702-9e0e-0944a57497c8 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44fb72b1-1dc2-418e-b0a1-864cfce5e34c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79d05786-3e9c-4a98-aa66-3ee787ee82b7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb4a850a-87e4-458d-aec4-dac3fad56ab3 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8122b450-51e8-4bad-bdb9-a91edf034d11 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bc716b48-6d95-4d67-ab5f-80a19b9c2c3d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5c45a814-99e3-4d95-8e04-3d819196d8ed phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c9da0ba4-efa9-4692-a934-d88cb1c0a521 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0bee08b0-8c81-4adb-b704-65111c0887f2 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee06dec4-0d9c-4013-9629-ca798d28a671 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:41f88854-be49-47bd-aba4-1456316ecdda phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd301b30-225f-4b36-9578-2dc159c5e786 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0be3aae4-3e38-48b7-9511-5c9b52c28654 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f86486f8-0e4b-454e-b313-354d35ef2fad phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:17c43b4c-4dac-4d58-87ac-2230d075a39b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5bac55d7-eac4-4b2b-b555-828d8ecdaf04 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4f54c9d2-6d99-4444-ae17-309fdf3e37e4 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b96a8f7-2210-4e7d-ad29-17dcf4a19b44 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6c28388-fa07-42d7-b889-cdf5d7c31526 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eee5a5ca-9f4d-415f-8988-e3814e99eed0 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dbbb3724-b2e8-4d4b-9df1-a014cab525dd phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf1bf7f6-af2b-45e6-8ea8-c05e09a75068 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1da7232f-7556-44cb-90af-47e5c22b5d39 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a17ac1c-a231-4eab-b992-08ded04d52b7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0954ca63-9740-4d50-a19d-9c67af3175e1 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73142692-2049-4d37-90c2-88ccadf9f79f phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d299c1f-502b-420b-889d-504984127d2b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:17273e46-6b9f-4fad-8133-bc6228b61f2d phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9727fe1d-e51d-4b71-a325-cb6c455d3244 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:61518b90-1e23-4cf4-b47b-40cb1e9c14ad phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6161524-7dff-4a0a-b3af-4454ff048fe7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f43b70d9-c13a-42b6-89dd-e14b55bb53ca phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:161e1959-2e80-4172-b5a5-7fe4650b50eb phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d35158e7-67d8-440d-860a-6ea9b8b75c81 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2add2689-82ff-42ba-999a-67b883758646 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87a68ed9-5c00-4790-83e9-67d25c8817b2 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b218cf47-e4c0-49e9-995d-10bdd5aa983f phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:17471490-cc74-447e-ba1e-ece3a7c55aba phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a787aa3-4602-4794-aedd-3d3953d85db5 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bf94f9f3-d767-4431-acaa-008b0845a11a phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ce1cb98-bbcf-433b-a082-bfd5ce53b912 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5613024b-d5d5-4a2f-80f9-2bc66653308f phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1b3cd69-4de9-4074-b99d-e46348a8911b phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11fecd4e-fc5e-4ab5-9f73-5ecc94c22823 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:004a3a0f-b1e0-4af2-a956-c6dfe146f599 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c7992ae-9c89-4e0b-8720-28fb650d26ad phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5bb7336-1471-4173-a2c3-65f93f044e2c phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3016b29-f184-45cb-9736-f7bb116ca26e phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0336120-0f15-45ee-a437-d3b2bb8ec888 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c37c9355-2f44-41bc-937f-8ef87c78bfa7 phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:d51558a7-7a1d-47e9-b886-c4e3f87553fe phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:d4c629a5-708f-4061-8baa-effcad0a37d4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1fb1de12-a8c6-4186-bdb4-ca14538a7635 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4a473cdc-7ec2-426b-9730-3ea6aaea526a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:652bf10b-7ac2-4b11-8f15-2164aec59baf phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e42d4fea-e06c-4348-83b0-5c2dfe9ed2a8 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e4fec409-1e3d-4b6a-8894-e8bb1125883f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3e930420-8808-43bd-b7f6-64dabf4ec227 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b7e37352-4416-4276-b168-7b4891249028 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1cbc217d-d62b-4f7f-87df-33a4d592dcfc phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:16243725-6009-4aec-ba20-fdf16ff16b2b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7263d18c-ad41-48bd-975e-a07811e1851c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b122beca-7190-45d4-8798-b9ac2f0e9d7c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:fb410f9a-0804-421a-a53c-60e62d9e0259 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5e3d8fba-3258-46bf-90fe-d7b8acec1edd phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f81e45ed-fb30-430f-b5de-789fa39e9a55 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:34e3de8e-45ad-400a-a53d-8f8d78ba94b9 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d93cab3d-4aa6-4809-89b7-c5345f6a2b0b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:68d41c5c-10eb-4ece-8a1a-40e50d732240 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a69b51b1-4673-4c17-9803-3594e54edbd4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4c9b9d13-77e0-44a6-aa68-bc2933fdb2f0 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9e1f8129-decd-4229-9159-6e584705ac3a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e00af8df-3b64-4f7b-993f-cb3c22dccbbd phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f283ba05-2ceb-4d77-a1ef-cbf32e65092d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4f2d16a0-dd91-40ca-8d17-dcc296822b8e phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:57a58cb2-c5b6-4ece-8c45-7f1c03fe4e5e phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b6a9acbc-c26c-4c93-9d06-e64fd7091e32 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e4cff1c4-b6c3-4bdc-9640-8d2fab1671aa phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b18afc14-8498-4559-b977-9efb1b3f7591 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bdc3bc13-0129-475e-a438-1ec1a00782a4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:2f0db4a7-a558-49cc-bfcb-e64bd4ebba3f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b071ae26-d26a-4a59-83a5-0b8158331d9c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:56239ce8-61b8-4626-a159-e369a619fc0c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06e62918-7d16-4b6e-97ae-994abe7cd365 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:211d5a04-fbd1-41e0-b14b-cb4c5c5da0a8 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0dadbb52-4675-460a-b907-88f7508297b1 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28e27785-9f65-4276-97b8-27785afc2283 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18b72085-18c2-4b2a-8083-53899a767c47 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59c4705f-60e9-4d58-b706-b7fb1d53f972 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80aba698-5e40-48aa-9774-a4549393da53 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:964a98ae-2cdd-42c3-8c65-1101efdf981d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0e0aeaa-b151-4520-84c2-380f1177f96f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b54661f-8ee4-4f21-a9d7-378957621e22 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f6f800f5-05a9-4836-90db-6688ee7986a0 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0e4a8eaa-1fd0-4b5a-93aa-9ab0108ae34a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0419bffe-09dc-4315-be23-b4d0ce96f388 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2095f18a-2df5-4b35-b087-8248582016fb phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4646d887-a158-4139-972c-8a8e05c4cb18 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2002f099-1132-4fd8-adf1-d2c1f129f26f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a4bfa3f6-daf6-4d09-b1c8-e3d79bcbbeb0 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64554b91-77fe-4b30-87fd-72ef90c18817 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01b73dd5-0c09-45c1-a081-faa8d4e9604c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:352f9717-2f8a-4eb6-bd93-54e1a719bd4b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c27c28e-4dd5-4c42-84c9-c2d645e6fa6d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b2406c4-dbe7-4ad4-8a8a-19f93967990b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:47beb06b-96b8-4f61-bdb4-ddab74e438da phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3cca533e-92b5-4660-9f3f-f3a6a7aa17a1 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44d369ea-e783-4933-98d1-71db84d58725 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e03df2b5-6b1f-4bb5-8934-912ca14419dc phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7b7c195d-3279-4ba3-8f29-4131f53b9ea7 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9dffa090-9c27-42e6-acc7-4437d48ed3ea phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7cdbbb9f-caed-4e78-a2c3-94fddff84d98 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb61658f-8137-4a13-a064-50024c6ae75b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3ea9b7cd-b837-4d99-b51d-324a640ee70f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2736cc29-0a2e-49a7-abb8-5aee2926137b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:601711d6-6ae4-4a7d-a16b-9be2aad19be3 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f239bebc-3853-43fc-b5cf-ee83f350db1f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a180eabc-e322-4734-9a54-faff13f9eb31 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44ed80f5-ad17-47ad-ac51-bfa5723ac2e8 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c59b13f-bd33-4e0a-bc30-f65b6259a0b6 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8b6d4d30-6fc1-4731-8fc7-ecd07d75d873 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20de0140-1b00-4dcf-8e00-a87f3d883305 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:795440e9-57e7-422b-b5f6-aa4b1388a417 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6e2b3cb-5659-4e3a-b164-ed3c7557dc3b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7922d02b-70f8-4e6f-aeb7-e3a26dd18488 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e7606857-2d4f-463e-aeea-083d25c5789d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26db6fcd-c9f6-45ae-980c-8f5e041094e6 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:797e4da0-0e1d-4485-9bb3-9418bf8aaa4d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8100d7f3-598c-46f3-8c5a-96ac73f69127 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:736a1c3c-a95c-4703-b24f-c8043cd111fc phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:124c7150-b25d-41db-bf68-d1217fc1d5a7 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe429e39-2839-459a-8deb-4a1c19c3029f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:afc903be-770c-41e6-80b1-132025aebb87 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f82f506-a997-4e87-a7cf-08d07b9f986a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cd2d44b8-9833-4976-83c1-0885e18136ca phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce1aabfc-7ebc-40eb-8b15-d9895fda4a8d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ecb23e70-f5ba-49a2-bfd9-0686b3b33f0f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2f2a170-fabe-4738-a691-75f0f312007e phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ef07137-a1b8-405b-8754-48f886d990f7 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3a8f7a1d-c614-40a0-b4c0-4bac57020ca6 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:796dfacc-6b60-4588-857f-f2cd137e8b8b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:436f30b6-5b42-4e3b-b73c-ff956aa03f5a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9e565d2-ec07-4400-8aec-f587bbb459fe phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a46b9819-26bf-4995-9566-bf5f6d9ae0ef phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b31eed17-1d1e-4b6e-9696-4ae544b47e3a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:58a8ab3f-42f0-4488-b129-944602d54574 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a493ced-a3dd-4ffb-9141-28ba33d095aa phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64192358-f4a0-48b2-976e-4ffa5f901ff1 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4fc9da01-ca4b-40f8-a687-d7605e7e6d3a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:72916ac6-94fe-4bc9-a43f-f66bf69e069b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab5466ba-a0d4-41e1-b0ec-437bbf3304ea phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8819a2c0-08c8-48e9-aff5-672018e3225b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb228b19-b9fa-4242-8fbf-7c42c282417a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b9b5651-8e7e-49f4-812c-8761808ad01a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a3b2954a-41a7-465d-b22b-5124e854cc64 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80824d36-f574-44b4-940f-0ba0c1ca553f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d33e3a19-1d47-47a9-9051-3525b5d68c76 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d5d2d34-8c44-481d-b668-6c298fbe02e8 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ff860f2-8888-4192-9c29-926a71c542e0 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7eb03462-e07f-46a8-8fc4-d7b704718a46 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0ae9db0-69e0-49bc-b7df-25468015e2cf phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8df446e9-db7b-4625-8a08-beb2c0e16423 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:62909d3e-764a-4dc7-a487-31eb2c95537a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:95a7780c-b629-44b9-9f62-20ca408cf3ec phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ea03cb1-3621-4047-b7f1-9af2e8a71307 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4f2c66cc-c8c6-4c92-a60a-b0a29ebf8710 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aead5e5b-1f2a-495d-aa44-87eb01022cfa phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50544524-f01b-45c5-a266-25a4782363f4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:654a3fb9-f198-4051-8891-f5c14ec31c8a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb3cb963-49ea-4ecb-8d78-19c4c2043e6c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cce2bb72-9fca-44a1-bda6-357f252daf31 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74356a53-580c-4a9f-aa0f-011dd35f5839 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f4ee6013-2c48-468f-952a-218b7814c1af phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee5916d8-211b-4157-9fac-7ca52c520249 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1a06530c-5c8e-4d2c-a30c-0676f5532c3c phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:446f1030-8da0-4142-a7b5-e786a845b995 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e91e7b8a-da68-43ec-a53b-8345799ba0cf phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:419ada6c-a598-4257-9430-660604fb3218 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:455858d0-981e-4c47-b3f5-cffe2526f7ef phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:661c8673-5b4e-4d8f-909e-0f5d98391f49 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9b9f564-3353-4a41-b560-97c32ee7b224 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab4bacc9-7499-4200-be20-d6e8b52d940d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e7b22ca-9abb-4e7e-83a7-c3a5cde16df6 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:54d496b9-e021-4c49-aefa-d2451b89ba88 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3231e35-47a0-4c8c-b214-4bb328c9a10b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9eb6eae7-3cd1-4fa2-89ee-d40bf460fd44 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5c73cf04-514e-4928-81c1-1c81a3304df2 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eedc6c7c-b931-4914-83c4-b44262c8e846 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9bf68748-0c79-4ba1-a798-c46528691e14 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3641b24-b591-4278-a1c7-09176862c72b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f4455cab-f83b-4d4a-9f04-0ba05a700f33 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0aad0769-5f15-4b5f-8bec-d422efc82648 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e950f21d-2a3c-4d10-8ceb-0231a1c639a8 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c233382-08dd-4c5b-bede-e2d2521b3ed3 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9281bdd-a1e4-4fc6-8fe5-699fcd2344f4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a44d1a71-1b5e-4956-94b7-dd2cff304ebc phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30eb82aa-7877-4239-b2d1-28a705b460bf phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:58965266-28da-49eb-a5bc-3565cd3754b4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b57b4941-10eb-4020-8eda-03422f96ebe5 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da4be91d-1d20-41d1-acf2-b1dc086c0f82 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc00b34c-acca-43bc-8dcb-40ae64cf0c31 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59feb18a-e8a0-4910-81e0-3bf758d6bf36 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3df9edeb-2c8c-452b-a802-125bf783fdc4 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59648790-f8ff-45dc-9f4a-1893f3c1fc26 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0711329e-ba1d-46e1-9f3d-c555b90fce8f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb1f8e82-c892-4792-8cc0-3fb7943b0b02 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1de8e69d-517c-4958-9e1d-71bae916016e phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a4ad290-1918-4a3c-b8e5-9448bb6f57db phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c08e5ed-e0fc-4952-ac67-0404aadaf3ab phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fcdd1f5a-518d-4839-8908-3de795aa6d9f phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a49b3f0e-cb0d-4619-be35-7214539155e9 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c046423-41bf-485d-a22c-487fad3b7aaa phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de758641-9eab-4214-ad3a-b82ce6466d29 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c83ba17-7ac6-44d3-9178-4e163252b87a phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5d81793-7275-4b1c-b2f0-4768110808e1 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0af3242a-c7d7-4b98-b11e-c2edb64a2553 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a5ba330-25d5-47f7-9588-007ce61d5dda phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ddffc154-5f6d-40a0-860c-1440700d927b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5fb8459a-100c-4385-a4c5-195f42b1327b phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e6c8d06-82d8-43e6-9a24-717cfb744615 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:62f92d33-62de-4b0b-99e1-e366375237b2 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2c7acd53-9a1e-434d-8fe1-0e5b40f5a08d phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71baac5e-afe9-40dc-9225-bed3ded4daa9 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05e57106-52fc-46a8-882b-24071e4abc90 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5e4525bf-34b6-41ab-9eb2-323cdf7cfdcf phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4bea7e9f-7e69-4f50-acf5-c3a27ae34214 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0add908-f9ca-4239-b9e7-e6d8ec6512f8 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19c45566-1155-44b1-ac4b-5d5623c446f0 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab73c591-3fd7-4166-8747-28148b71c274 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a6dc4e5-355a-4645-9ef7-343ea1578b95 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:518201d1-e05c-4cfe-9ce8-e1ce70e48d58 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a810a24e-4912-48d8-a5d2-198d646cb7d6 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:3ca37af3-8904-4562-b61e-29f6ade8cbd2 phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:6837d32e-7716-4a49-af2b-de35994d1f2a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0e53db32-be76-4b72-936c-90fbbc9e00e8 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9143d322-1c6e-4fbc-87d6-dcc92faed274 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:af7d36da-314d-4a40-91f7-42f6b82e860e phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3813b7ff-b63e-49aa-bba0-e6b24c8038da phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:caa77248-997b-4ff6-bb49-40cd71656dd5 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7eef542a-e8ad-403f-85fd-d8d57e7c43eb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b68866d1-117f-447f-bc1c-10c9ea7fe978 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d916a911-489a-492f-b157-8d81ce71f3b5 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a736671d-d666-4585-a6cc-dfbec525f310 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e22cff3b-1d29-495f-9f92-e67ebcd83d96 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ec3d8f61-5e86-434a-8dd2-b40497e02655 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c4a7c4ae-2b85-4a3c-8ddb-1c8ba6d00d94 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bb0a4034-ccf4-4b30-b828-6cc6f3ec3d58 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c8c30c69-9502-4485-a0b3-e7b777dd650c phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6d7bf4b5-235f-40e3-8291-2e690f5f2a3f phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:841ad4fc-060d-4e2e-be58-c27afad8d83a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:27f026a0-6a0a-4151-869b-354970fc30fb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:916e53d0-f835-4c1a-9d4a-94ce9a6b6267 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:90b9fc09-a7b1-455f-a3a9-9bd0cf2ef972 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d37a451c-a4ae-4bcf-8955-cc427b037837 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d1acea38-3804-4d14-89d8-ccc7e95ad614 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0dcdc52a-89f8-4ba3-83d2-6038b3e0eb18 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:be68c4a6-64c1-46a5-adf5-6594aed5e419 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:76715451-67b3-4cc6-a360-bf3586e56eb3 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:feedabe0-7ddd-4cd5-8aef-3a3e97925f26 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c0e2b511-1f8a-465e-acb4-8a6f58c8d535 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d8b0d3dc-23af-41b0-a61b-2c9b1ca1933d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c0d60258-5c9f-4539-835e-d06a7c2e1d99 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:50efffe3-0fca-4088-ab27-b9203cc44b19 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6d4a8428-c34e-4250-9a89-47a507c783cb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:995ee84e-0ea7-4c03-ab74-575ff0585b8c phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e46595bb-8fed-4d60-8412-905f3ceb8e13 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e38c7d35-d06f-4091-b2a6-e28e5d34b263 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1291f204-fa06-43d9-9bc4-cd19afd163d3 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:484b6c7e-f2a5-43ea-8677-a3a9548f876f phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0619d3c-d4cd-45a4-be3c-520bde3d6b45 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:037a89ea-3389-4454-90a5-dc93dd7adf68 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:295299e7-f019-440e-83d2-495687124a62 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8006f201-e5d6-446e-8874-203397656946 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:102b8f7d-6e90-4ec0-b897-41a03a2b05c3 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d78077b4-847e-4922-8c86-76923f83e2c8 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:630a716e-9bc4-44dc-b61f-a6d69ab16f2e phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eab32797-1772-443e-a604-0e8168b03c95 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73fc06d0-0bc9-40f9-9358-fbaa91f52579 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eaf34cdb-352b-4c1c-8b28-61ca2a3c0d1a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0705e992-3ee1-4447-9921-1b3badd55450 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:849fdf34-e7a9-4b24-ae22-40003331e306 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:39e07b11-2869-457e-b6b7-382c036f2a93 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9166da8a-8ffe-420e-b414-0e207d51affe phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3b06f0de-169e-45f3-b5ce-4a5219796c4d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ec34eef4-ae55-45d8-8c84-890bdb12f0e2 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ce057c7-94ae-4136-a8e9-99ca03d68eca phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e2e6a22f-6352-4396-9ff8-026233ebae4c phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3044e85-57d0-4275-8e60-057963ef832a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5bf291ce-3595-4824-a04b-88e4b71bcaca phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:baab2fb1-aa3e-4c8b-a946-b49112433432 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c961b801-3fb1-4852-8032-d6d8b7894bc7 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a0cd92c9-f830-4d4b-adfe-b0c9e6a18ab0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d7c9cdc1-f6de-4aaf-82c6-86fcd4def178 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b25bcc3d-eed4-4fcc-9266-cf38d704f01d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:728bfcba-ca1b-4afe-b2e6-be2758a9edbb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6064997-fd6e-4c8b-abeb-5710dfa23d3b phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9bc794c-0ae2-4955-b48e-e299e9c76f22 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6065e98c-7e20-4aa6-b58e-e71df5499c55 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:146e888f-aa29-48b2-a920-342c10c884c0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:249cba51-158f-4ddb-b81f-fc5296177e35 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a56f05b-466c-4bdd-9555-ae69abd4e936 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01dfe9a3-7299-4636-9e9c-9cc196a878c5 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30e1d926-1705-4e79-bfd2-c7d4ed658b56 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f457cf45-9ee7-41a6-9775-6b2181c346a3 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e3c936c3-780c-4a75-b691-554ba0d8b692 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87b1dd3f-5250-483c-86cf-dc7951fadcb6 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0544cfe2-bb4d-488e-a4a5-c081e09c19dd phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a0a721b2-e3ab-49d2-9f3d-feea9e91d406 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3ecc91a5-85e0-49c5-951f-dbf7a12986db phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2aab35f9-f98d-48d5-adf3-e499577b0074 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:118b2d19-c9dd-4b7b-9542-d27463a09d06 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28820b8b-1d53-44c8-b76d-f9a033c160f0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6d9a577a-ec9e-4cf6-85c7-89191811f90e phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:997367d5-f24a-4ee8-ae48-7fe76808873a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6fe656b0-fa7c-421a-9a92-606dbd30201c phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4bbb0bdc-ce43-4688-aaf6-31cbe796a8f0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:878eb95a-d77e-487f-8c11-62d333c0b9b1 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:180d17b8-23c0-4fae-bcfb-be41e4d85112 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70719a99-e803-4d33-917c-6f3973a3027f phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3411ceda-7ce3-4e76-850b-8e0c08aa7251 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a100afb-d1af-4d40-8d17-3830b9b55e35 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3382ef76-bf16-4127-a1bd-02b30c4c5b32 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:04d7c21a-9270-4de6-88b5-a87f826ec488 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbfd38b4-3200-461e-b6cf-61b153676814 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f93a4717-545f-4829-ac9e-9348267982ff phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee6d772a-4861-4d93-b1d3-5b30370302ef phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b9bc9e8-cc0c-4872-b1bd-0c0d004d027b phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:720d5e94-ba29-419f-a385-89b888e38860 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:920113d4-e323-4756-8886-8c8541674dd3 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:acb3b531-8508-4cbb-be6a-8b04aff17332 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3fca69c4-138a-469d-9dc1-5a0b4e6d8a19 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1cd96eab-8be3-442c-8269-d2171c1b8adc phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30d938b1-38ee-408c-bdc7-82a0104e911d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5c3aa90-b8e9-49a0-9528-7aeb5c676176 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a4dbd7e-5de9-41f1-9e3d-2c03044b9e88 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d13cc243-8978-42b6-8ff9-4e69aecc63e7 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52d02363-b147-47b4-a337-b1957cf03453 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:39397dff-abdc-4519-83cc-a3d8d7de8803 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc4c4a17-f9c8-48c5-9033-bfeefe4bf826 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a827941f-c778-4907-a974-db4cc3afcec8 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ff2fd43-21a3-4329-b864-bc76510466a8 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3b567917-32f1-486d-b4a4-bfed8f73679e phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7cca6911-2ffa-4e4e-bfdd-015b442f5066 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e9bd531-c2c7-4b9a-a49b-25eb1afd7c91 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b5750ba8-0688-4384-b0a0-69d42cd740f9 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8bdbe607-01fa-4795-b4ca-0826df1b83fb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfc94642-1f08-4073-a4ab-b919ff4ea92c phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9f81fb3-8331-4956-9fc0-3ce6a4680836 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be60629c-5169-4a4a-acc4-867caba9d810 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:85d94560-68e6-4a14-9656-b027df59211f phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1d369afc-d545-44f2-a219-b91a9bee33d8 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a4601d06-39af-4f44-a0d9-d7cfc981430b phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c709a19-fb86-4dfd-88e8-fd976909d2ef phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:796a8c2a-cc5b-4762-994a-a9066279ac10 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:edcbba99-9994-4bba-867b-2ba03ea2a983 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4036c581-2f8e-4728-bd7e-2814abe5b9e4 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:142a0ab0-1bde-4838-b964-52a596cde3be phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6abf54a-a09a-44d2-874e-259e899a4ed4 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30f7f1e5-877f-4451-b626-be6384d0a2d2 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f6943122-b810-461f-a1ab-542a306dd78b phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c664e785-14fc-463d-bd52-ba028a5f0c53 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b73bc76c-589f-411b-aeee-d1e2aea9dab6 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8eadf6e6-0de1-4438-b09e-7c413f803d47 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:af300761-d11f-4061-b848-08def2d51b91 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9aa2dbc-2cdb-4303-a679-189b557843bb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e6e007c1-220a-4cbb-999c-b5b951c7fb23 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8041dcd5-baf4-45c4-87f6-bf2b618779be phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdbc9d2f-f3d7-4914-8dc7-63d3f7f530bb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:291b15e4-a193-463b-8b0c-7f841e498537 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:416bc593-1ec0-4185-a811-622998a21b17 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d1e86d2c-b277-4bef-842c-4a66fe78d840 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ab2b987-2743-4a0d-a84b-f5f1f63693c1 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fca97db9-1cea-48a2-bcaa-bd7fa55b2d93 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0e2b7a38-98a4-4aad-bcc6-176378eecc78 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29aebc1b-af7c-4b5e-84d0-464a29c11d2b phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:08f775ae-5cd5-4cff-a15f-c68584ac117a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8fa2469e-013e-47e0-8976-f7ee9ec81a89 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc21739f-b5c2-4c1d-bdc3-da844a1d7070 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c54e876-d44d-4e7e-9938-96a75336fff1 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7864b171-076f-4e74-8617-85f8a2ea01d2 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7f99a7ba-8a1d-4590-b1ed-4f650eef9ef2 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29107dd7-3368-4879-a75b-4937a6b8c12c phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9feec658-be7e-44c9-a354-5426099c74b0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4645b6a4-4073-4bcf-9d76-8f06153efb2f phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ae92bf2-7df8-469a-aba3-4c3ed0902fe2 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce332830-5780-4760-8b44-aa58f700e3cb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f0e34fc-b079-4e0e-ae39-2f9596ac4412 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28cc2fe1-10c3-4741-b742-a22521d47ca6 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:43896c30-6807-4b50-82ad-7304ee63c83a phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:018678ab-6e5f-4991-bc4e-1fa95d64936d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f24ac6eb-4ce6-4af5-9c18-62561cfa3199 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a94821a-564b-4b1c-8b6e-6207dd08e039 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a15ba7ac-37f4-48bc-b9ec-1fea629b1bf7 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:103c1a81-15c0-454a-a455-0152bd3c7608 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e386320c-3744-4601-95ca-a7bdec7ec7a9 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4d8fd6ee-7e70-4abd-b718-2d32adc10b09 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2dbb5010-bb5c-4e94-a8af-867bfc9919af phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd7f6b6e-687d-40b4-8ad5-6e10d0674d77 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1aa7ccbd-53f8-4a55-8b25-e9d22dd05035 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eac271cf-7ba3-486b-be68-24cd30bea2bf phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86548319-fd77-49d2-babf-ed5d04e550d7 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f2ecff24-547d-45ce-8d57-08e3d3700d29 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f8e45c2c-7c2e-4874-8efa-0f250141715e phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d60cfc70-cc6f-45df-a868-58f7f51f21de phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20cfe8e8-57bc-4c08-8582-8fb27a4c89bb phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:34f42de7-7c08-4275-993c-495a8b03cfb3 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8282e83-d36f-48a7-8639-8d880e566619 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:39fb56c0-2c78-4a39-8fc3-4a1a1a6a9d31 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6d310566-d190-4b27-b099-d0257f3b8dd1 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d9aec5c-068b-4892-9098-915806fbf7f1 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:43822aa1-92c9-4495-99bd-250af87f7c43 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7fd5cb1-95d5-4f7e-9379-11db58390988 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c56667b-124b-4bdc-afe6-6b32e5480864 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e312f357-296a-4288-8e6b-e435070ffeb9 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0c2c08a-607c-450e-a321-056a802abf5d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bcc2c1b4-1f5b-444f-aa02-80eb86486159 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:539e05ea-e126-490c-bacf-e2ceffc0ae91 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0f188d92-a853-4fcd-9b2c-b5348450120f phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5d26642a-430f-4f35-8601-2f52b95701e0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:980e669d-b352-43d6-a68c-d8f657a1ce3d phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:362bea27-c1d4-4616-91ed-5be06ed69e16 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44cf0b1c-3ea9-4c61-b3f1-7d56e90da72b phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e2c552d1-0bb4-4bdd-a6c4-699aacd10dac phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:444f5abb-9a3c-4cbe-8668-551f1490d1e7 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8945abbc-6579-406c-b036-39c791fc7291 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:1707afbc-1e51-423b-bcc7-d68dec405da0 phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:5a324705-1c16-4559-996a-56f6ed798e16 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e28c61f2-bb8e-49b3-ab84-c67bd4b2e437 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:00ba9f66-7757-4eff-a614-19c95dd395cc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6ac171ad-5770-4588-b511-5c83372b0e3e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f79f3f8b-2d98-4cc1-969a-a88c881a015f phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:eef6334a-c21b-4c54-aa6d-dc884ca4b007 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:fd0b8952-f227-4cd2-bd6c-97e22dfffc13 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:90efc774-f55e-4a2a-aeab-ebec76a56fb4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0fc3c1d5-2a00-4a85-876b-8db0ccc8c80a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:16cd939b-89bc-403e-a4a3-e478f3c53eb1 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:345ad115-d620-4bd5-aab2-91995f4d4d03 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c42eb212-5972-4c49-8111-dfe7f2fa0565 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c06c8230-036e-42ed-901b-93020adfa41b phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a92a9d52-e6cc-43af-aa00-887ba8146e61 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:52cffc00-565e-4ea7-847a-8c4ec1d1e0ab phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0a0d7404-67c1-4a0a-8d89-f05508e6bb46 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7c952d26-16a9-4089-94c2-2758ed0bdfb4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f89789da-3911-4465-be7c-1f6e9ca320d7 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:24ce0daf-3d50-43a2-8065-8055fdf9cb61 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:319747ef-e33c-4534-be58-7ca5b4fae422 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:120987ad-cca6-49e8-ae7a-8a64858123ff phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:de1b1685-ab7a-41fc-afc4-e245968ccbca phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:996ab669-fb82-4d9f-b7f4-ff5e5b4198a8 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b7a7005e-5ce4-4efc-a594-f43e519554cb phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:53cbd0f7-c880-4b61-9b3a-4a431fbe785b phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f226029-4e2e-454b-b56a-95428934e20a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bdac0df1-4785-4f65-b9de-b2ad97196171 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e4ccee6b-7457-4b49-aeba-bfe8bde6cc42 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c41007c-8ce7-43d2-829c-3eee85bcdae9 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a85ae62-f63f-4a6d-8e25-ffa492c569f1 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ccd5cddb-c29d-4596-9d31-b21178829e67 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5c86d49e-3915-49f7-b012-f1933aad0679 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01c3db99-a7b0-4935-a526-ebcb8e1e4b33 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:356a9977-8b5d-4e53-9cbf-0c1168ca894c phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a9816d4-38c9-4908-be31-005befff915a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2fd3c492-8a93-4741-865d-ea5f89a82965 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6728c7b7-d917-4a1c-a18c-a2f3f43cb935 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e07ed55d-5f60-410f-82ac-085ad95717b7 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ab61d58-607a-423b-b281-cfb923a49b92 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a84fc4a-8f16-495c-a903-62fcb9000f48 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:983203a2-46af-4495-93f1-e0a350b820df phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c28a8b1a-3b43-413a-a6cf-5192eb0f9bbc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87537998-7aec-425d-bcf2-ce2e2460433f phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e0b1c5e-5f25-47d6-a399-8f594243dd46 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98e39d6d-f2f7-4bf1-b9b9-ca54a180b165 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79b404f8-1835-4f1d-b026-717c3f09f364 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fcb935c5-cac2-417f-9f4e-7025e36addf1 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc163364-b417-43f2-933e-4219bfa8fe78 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb1f7e40-bd2a-40c2-9552-2218969d9e54 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e0ab7fb8-2671-408b-9080-7ecebef622d6 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:501e0c57-960e-4b52-a862-5f7977033768 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ad5b12a-1a5d-49db-ad0e-43e5b077b7f8 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9d47709-dd08-4f6f-bda3-b3e8c8ca3185 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ca7f6373-e912-4fdb-ad93-bc1400c1b75a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2dee57e-3bf0-4b49-90e2-c6a942cbda50 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:017dd51a-f268-41d3-b322-d23e6a0f578a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a57cdc6-358d-41c3-9781-db0c7d8696aa phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe79e6d1-cc61-4404-bdd0-b5e5b0a61ddc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9eba0cf-1fd9-450d-97e7-e702c6498772 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:322b5ec5-6d03-4d33-a775-c5bebcfceaf0 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29325c97-8916-45e3-b64e-081eadda6287 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d67d091f-4543-493c-8a89-309b354011bf phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53f3c639-dfa4-4830-84b5-204afe0d73df phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c71aef23-393e-4b9c-9e9d-0fe6592072a2 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e7b8afa3-e7dd-4430-9e2e-292d2120db6d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a980892a-6bec-4163-ab23-67810512d6cb phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3cf73a54-73e0-462b-b880-3d0f9b156bcc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bd4fc264-5871-436e-8213-98fd6c6355ed phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0edcffc2-e6cd-49cc-b58e-b6ab42f9cef8 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:acb74dc3-0ecc-458e-805b-07af1bfb1d05 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d1189f00-c7a1-475e-90e9-8aecbcb9e697 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7277e9fe-29ec-456c-8000-de61cee48563 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:72fdb972-a6a5-451a-953d-61630f0e2cd6 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:505a067e-6417-4d45-845f-88bfdd800892 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1f0a62dd-4fa1-44c5-865f-90a211108a17 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a0b120c7-a601-40e1-bb0e-c54c9f6bb762 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ba5b26d8-c78e-4653-9a5c-e2e097f93b56 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:640189c1-207e-4932-9953-e7949ed98b7a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03827471-5eb3-4507-b426-51136e64e37a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cfef8b08-9782-4aa1-a54e-23f9a15b3e3e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c171c4ff-91a6-4aa5-b10c-c68315e1f7b1 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7bec2007-27ed-49f5-8c52-20ddae9404b0 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cdda6c20-1b50-4a7d-bfba-53cb5b01871c phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:244530af-9931-442c-9e6a-b5b38cf6703c phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb7505e5-6e9f-4f65-84bf-a4bd5b3f20ba phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:696974c6-d403-4e70-8bb9-3c7054ddf422 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c19d236d-7be4-4878-ae8a-ed11e31b180a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a7c2f1d1-15a1-49de-aaa8-311160ae80b4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3cf1376e-95b0-4521-b74a-81c90f97f5fb phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b947560c-a229-42e2-aff7-19d08faaf33e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1de7bcb-6bed-4b94-a08c-9e787898b135 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20cc8a74-406b-4aff-8931-a740d86b93ec phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06591791-df01-47de-a96f-c2caa951c9d4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b78cda6b-ef7b-482b-b9ae-569bd87854d3 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8268418a-c370-4cea-8517-79396ea487c5 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:040ed137-f47e-4ba6-8673-afc0f1b77e18 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9001ced8-02d3-4fa8-b649-7eb036863bd9 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:47c67b67-08da-46b8-a2d1-a67525ffda38 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb33371c-d510-49d4-8896-e0a7d7ff109c phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5413f83e-3f94-42e1-a7e6-74b13107c7d0 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2322ad5a-6cad-469e-8d87-7a23274b28a6 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4425df09-a6fe-47b6-9d4a-e2b3c4dde723 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbfd9e2b-f729-4655-a5fe-f519b8bd87a8 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c7b23d7a-7eb6-40b8-974c-dec69dc8a6a4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbcdd737-466b-4956-9ce2-dedefedf3926 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ec1cea33-e2e0-442c-951d-a38ab402c445 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b8478e3-6b23-454d-adde-a69e9c5049a4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c9497d44-463b-4bb8-bfba-ef9677fcda68 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c9476cc4-784d-47f7-ada4-838117edd01a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d54bee90-d3e3-4adb-b237-9fc15484ede4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18c79577-603f-4db5-8ce0-842de9fb2ded phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f929508d-5322-4754-9be5-6333de3077a2 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50469b67-aa51-4317-b71b-1ac83c66798f phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:67a43da2-0a9c-47a2-9318-1c8bafdc56d9 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:971931c9-5220-48b3-8604-984400016262 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d90f95c3-b76e-4dba-94b5-f703302fc9a8 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87f0ae32-f3ac-410a-843b-19782cea91f4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c4d03ae3-0c79-4e4f-bf80-cdae90fb4aa9 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03f2546d-dddd-4d0a-91c3-2e592e82973d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:209e8e03-2879-4c90-bfad-4f93496a7f52 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3aa6f399-203f-4d8b-a035-417438a145cc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e085221-f207-438b-ba83-9370fcee2423 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:862a6529-6551-4b92-b160-2cc293bfbadc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:740f6e89-86a7-4278-8d2a-994964eba50b phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ff52d37-94b7-4dc9-a1c6-2264594d294d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7dcc1e90-5450-4012-8d49-9489eaa49981 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52edcae7-6b60-412e-958e-90ecce43810d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:16775a1e-3b94-4349-8eb1-a8800e25556e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:47145133-1d18-4304-a345-6a454256dc9a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01426a49-ad09-4262-ac84-3bbc2c29811e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3a07bd8-702c-4914-ae62-37140d64f263 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b960996d-67d4-4f85-a7cb-bb96b09daca0 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:12ce6df0-dd89-4fd3-93fa-a1edae893b9e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d4b3e2e7-0948-4ce8-bf46-719013635145 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5edb9c22-5169-4db7-901d-cfe89683ccd1 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0c40eee-4c1e-424a-91bc-afbaf89ab553 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b615dfee-ea5a-4ef8-9062-d4bc7bfabc97 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f863fe44-f386-487d-9193-6c0149ed52fa phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2f57bbc-c1dc-4dc3-95d7-23019536ac94 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e45fb331-7ed8-4538-82a1-04fb3671f60d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:72fafd3e-6196-4dfb-91d3-9c39bccadff4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a64e6337-58ef-44ce-b164-099b31701287 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:92fdb246-23af-449d-953b-5d4d385972bc phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f40f9b99-b97c-4d44-a411-07b5a6fef98e phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9b11e64-a504-457a-89f3-c54a2089daff phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:78050f5e-b0a6-4bab-b52b-2705c4968602 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fce61b66-c4ea-41d5-bbdc-709d6a0fdaca phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e15467e4-6c6e-4b95-9f90-9147f1e0af4a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18d87b0c-4e32-48b6-b12d-e1e140e7fe04 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be8ddec8-d836-47f5-91e8-111b8b9dfa0f phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:019bc1b6-d976-4473-bdb4-a274c651dc90 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab185c54-090b-49fa-be9e-a5a7a6b34122 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:04a1b2c8-6e16-442b-8525-a2c47079b376 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70acc7a6-183f-4f2b-b72d-50db24a38759 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:285e7715-e393-442b-88a2-83980ac6073d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:139c95c9-329f-4528-9e0c-98747bb8a76b phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:198274bd-f189-4645-bc08-e35b052ce5a7 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e39ed9eb-0523-461e-963c-91611ac61cef phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0ab45e77-d44e-4368-8b32-ec53d187d562 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e0fd963-496f-4aac-9d56-4633a74ce702 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:631ab7ca-81df-4ce0-a618-3d52dac6e867 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0302e582-0384-4b2f-8e6b-715d730e5af8 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30748273-1e33-43a4-b36a-c19d7fe1eeda phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac1c4ab2-da85-46b8-af89-5569e91e7afa phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:21ff275c-e175-4746-9995-1eb48359b1e0 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:21efce2d-2432-4db8-b867-8f5031b36821 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87d70e0c-bf3e-4872-a1de-0663aade4625 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e19cdaf8-17af-4742-b4f4-0cfeb952fd75 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a38a0295-8913-4ef7-b2cf-12d1337e374d phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c990186-7b9c-4448-a27d-d1c4b73cd361 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1622f918-5424-4297-8a1e-826083e206f4 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c6dac7f-4386-4668-aa9f-765cfc2db3ac phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8e5d6c4-245b-4d53-870b-2501995bde93 phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:bf28dab3-41f8-4bf7-b28e-ef9fb4042e8a phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:22a4b6db-afc0-41c0-be27-5cb11bc11bff phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:db47dc64-3882-437d-ad6c-7239d48542ea phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:913b709c-b35f-4f7b-b868-a8be8b474ebc phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f5bb4b7e-1674-49e0-8961-30d2ddb86a58 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0026a3e0-23d1-4aee-b0f0-e629b961450c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ccd629e3-8ce7-4556-944b-4e6b83e95067 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:63913a09-fbbc-4fca-9dcc-6a345b873909 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:579a4043-2ba6-4a85-8569-23fa4559ab51 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:17c7493c-6729-4d0e-9d8d-4eea04e0e186 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f9821f28-643b-4945-8e62-bfd7927193f7 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:03182895-1aab-42c8-9fb8-6b0342c4ae4c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000998 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d456068f-4e03-47b3-aef0-de7e2b1849b3 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5e939ffb-33c7-4799-974a-5ed913d245f4 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4cd5fbcd-e035-4839-b29b-ef614ecc429e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50c4361a-6e04-4b9e-add1-4d6b4ccdf05e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b193c8b1-7ee9-4be5-b786-5f749020b38d phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a474a049-4b35-4c38-b574-9e2e9be0bf4b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19354077-6dc6-4023-983a-f18cf9f5fd0f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7854352-445f-473e-9dbf-e6e787e8b4ac phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d59b364-4fec-4465-970b-b037fc0affbb phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3bdb4db6-18a1-410d-b4c0-89110bf95ac1 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:325efc70-5058-4889-b928-3d5a9054cef9 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:672a421c-a573-48f1-96d8-117db0fc91e9 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:40b052a6-e64c-48d0-87d9-11730b9b2a75 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c4107601-8019-4fff-ae01-a0b75afb1ac7 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dbb957b5-aa7b-4d77-99b1-42e5a7a13b67 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a84bb0a-744f-44a2-a4e7-95ec16afa2ce phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8481938a-4d3a-4f24-a53f-92455d910b4f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee7cbf46-6214-4b67-8ec5-b68ce3a37b71 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cfdf2b6a-8633-4aba-a811-12b14704454e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb0b547c-ea69-4a77-ae56-00d1a14d09cc phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:768f7057-68ad-4daa-aff8-426b59387247 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd44778d-67b5-4140-85fb-6f762500c075 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d7e5cdf7-ee70-4606-9407-1f010096c8dc phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dcce94d1-167c-48b7-8721-589a1579c53a phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b70d6ba-7454-42a2-a314-6051eec19863 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9c5c94e-9433-47d9-9561-41f5227c6874 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3404a6f0-f996-435e-8037-8ae597ecc757 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb23931a-ed37-4216-b782-bb056b6d4fa7 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7724c4aa-6714-4779-b3f8-d74b7978e73e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9307ff10-ab70-40c4-84f7-20217a457c8a phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53aa671c-f490-46f6-972a-388865dbc254 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44ff4ccc-2216-416d-a530-9a4e99807477 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a1b51cb2-6050-4fb0-989a-0df4c4893231 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eaee47ee-0187-4ba4-9389-cb8e8ff3ce86 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d6eedd09-e000-4120-8c0f-85afacef88b7 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f81a38b7-61a4-4832-9bc6-168d9d625eaf phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a42e025-7bd8-4950-9384-791b59266b83 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f716bce9-66cc-43af-8385-0153f6751d17 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1615c43-4761-429b-8b71-d3bccfa2ee81 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a15e0b8d-58bb-4873-b1ba-0a5317ddb02a phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bcf3720f-1c70-4048-986b-cf64b868a844 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d5fd3ddc-5d0b-4e04-a26c-197dd5c25212 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8843fca-8523-453e-81b1-cf9d049c661b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf497f55-3d32-4080-b04f-5d9c42bd34ac phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c44baa01-c9ac-4e2d-bf1a-2b74e2814d1e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a1ea7b75-841b-4e18-97d7-5939784070f2 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:83bf3113-f918-42eb-8024-b3710415e4da phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da36de7b-aad4-4584-8f10-0a5be17d663f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:993fbef6-c622-4357-be14-de4b63ebc6a4 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11a394ca-1c59-43d2-aaae-decd3a958742 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1130dfda-bc68-43f9-b932-fd4eac4c099b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24cb7b52-b3e4-4ef0-bdf4-09fc0bc04546 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:31129f7a-752b-48d3-af58-48d92eaa0d5d phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c979328a-7205-4a31-b374-8c997aa29738 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1ef33181-36cd-49d8-8460-53d54ab3482c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c2fd4e84-1ca7-4065-97ea-9670728266dd phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8519838-6df2-4c18-88c5-4f9a5833ee1d phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df71f9eb-acea-44b7-8bb8-fa6e52f96223 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a579535-b95b-406f-a76b-f126e66e5441 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bf86160b-e9f5-42ba-ab21-e6cbe3a07d82 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de11156a-1f7b-4fe1-9f6f-4a07c5f6acbc phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d3aba3aa-d7ca-48ac-af15-acb99ba62949 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2aab9f28-6078-4b6c-aec3-7dbe219323aa phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:caa44856-7f42-4b18-8743-4e9a8b88c682 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:126d2673-f151-4645-8bee-6c586aee768f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03c48f6d-a9d9-4c95-8690-c42e7555b014 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d864a05c-0556-4b69-b9ee-1c1bc4b87773 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9e132d05-e4ff-46cb-a6ba-9b01ee4bec27 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc3448a1-e297-4929-b3ea-18ff21359cde phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8923ffe0-51a1-4f4f-8c18-e124e3e57751 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:76739211-4621-4de0-99be-fddf8e2e20f4 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7dceb5b7-8c0c-4d24-8154-c9846a232c4b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:41915ae0-4528-4fda-8cda-4e624cbbd7b2 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7661dad0-a3f5-4e9a-ad74-96ada7a13a34 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c1286227-8383-4476-b4bb-6b955144a3a2 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce35662e-43c4-41fb-a8db-3523b2e3ccdc phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44c8c3fc-abf8-4c71-b341-34935d0a6490 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:298f72d2-98ca-43da-bee2-096f62c373fb phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55ed75f2-a40e-46c8-a9a5-1b9c45bc7888 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b53c281-913a-4661-9958-8c83eccf457b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e591c7e8-4963-4840-8de2-ce0e80b03149 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5eba3d42-845f-4ae7-a893-158483b6a969 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c15ce49-d398-4977-8e6d-ae8abc713bae phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb9d95c0-7c2c-40d8-ad2c-12395c1c89ba phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:222ae2a8-b198-4a9f-bfd7-d7d72758b8e9 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8afdd3d5-3b99-4525-8463-6a5bdbff114a phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3174dba2-2773-4aaf-a914-5969c87497a2 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5eda9b96-d61d-4d09-b957-ef511da3c36f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ba85548-b591-48d3-afcd-70cc5fd1c7af phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b5af0ec2-47d3-49fa-95eb-4fde1595d89c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:109db09e-d341-425b-92b1-f9309319d4ef phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f10fd77a-375a-44ea-9346-b47f12abec95 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0b58fa1-04f2-49cb-b711-6917cbfbb52c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11a86d89-25f5-4357-9cb7-e053afc57119 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5f26fcea-3896-4b21-ae41-87b1013a186e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be862896-52da-4413-a350-b1527ad7331d phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb58a848-84e0-410c-b8db-846c76746cbe phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d717bce5-5813-47d7-a4f4-56365fdae466 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:984db8c8-77a8-4047-95af-d4aa8b84d24f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:35dfc94a-f31d-44ea-b34c-c8495c1a9371 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:62cbb183-8bf1-4041-bab0-293e0c80ca62 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e9c4473-d480-422b-8228-1f4bdb597909 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53211233-4dad-40a8-bc51-56dce323f488 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f14906aa-425d-429f-a9ef-d3e5074cc0f5 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d7c5c09d-77d6-4ef0-a05f-002c0db95b52 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e624b5c6-d2b1-4b87-9b05-af228ce01be2 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86f09bb7-5ed2-4062-9d7a-bb8eaf695610 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdf0ec97-eb98-42c4-a45a-40d8b097bd1d phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9d37974-6767-441a-b2e6-1b85879676ae phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f7b57d6f-a5d2-49f7-8dd2-1b3424c7a4c7 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdefdd86-50ce-4011-addd-009cb805c46a phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d00be9d-4174-41fa-9ebc-68b3d99c3977 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:017d4841-f003-41be-855c-ba3996c77e4b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de777a86-90bc-4a88-bd50-af7922adedff phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3db5830-e134-47a1-988f-826b4c1535bd phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55304157-eae4-4a1d-8569-0c0cd09d2c4b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d66bd70c-3fb7-42a9-beae-3b22aa95934c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:080ce758-bfd7-4d4a-bb87-3c5205d750b8 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c73c222-760e-4688-b534-2a8fc504b976 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:587e4def-ad28-4192-9cac-8ed05e9faf59 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7027f082-9b4e-4218-80fa-a2cc8e8df288 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9dcedbad-fe6b-4c5c-9ef6-269794ae2c5c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb8f8094-d8b4-4dbe-b6bc-fb438c1e0131 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2aaffc6-9057-4b28-99f4-a7f12086d625 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f213e97-72db-4435-bebb-ef0c1def997e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf1caf79-8ae7-428b-a893-8607929c0d39 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c0a80ab-b35a-4d56-bdc7-b911b86c2e22 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cca7d263-f357-4f9c-aab9-ac4c3f8d8b5d phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80c9e694-134b-46ea-85d8-64d7ff873d3b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e327a22-06e0-4ac6-b0fc-22cbee44e008 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98b5033a-3bab-47b1-9990-e73b3b759008 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4e3bbb81-9d4a-4ec5-8b87-2616e0b5fddd phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02fdc53f-9ce6-4ac4-96f1-153ba2880f13 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3fbfab6a-c4be-425c-8bce-e553d9d05ceb phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:664f282b-c8cf-4a1e-b92f-6bb35cbf9d64 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e6f8c6ea-ba3a-4949-98d4-af961bb21c4f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06226f46-f694-4c6b-aef5-b4e19c50e311 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:23537d99-cb62-4d2c-9bbe-d8c52cee8c3e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6aceea17-d849-4d81-ae0c-9e0e5066338f phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1d5fde2-ad6e-44f6-b299-305da19929a3 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a7b3cb5-dc57-4a69-be9f-078a5583a969 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ae2793b7-f988-483e-abbb-b656d660f6c6 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36151d48-772d-481d-b13b-fdeb914b967e phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ed1f51e3-ef29-48d1-9815-099e7ef160db phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ef3b39a-5f23-4ade-bae5-9887dcf44a14 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b10416a9-f83e-4089-b637-c0c952d4d587 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f546def4-f58d-448a-89aa-a4c83d6fd618 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b3a056e-f440-409a-a249-497b24f80291 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71f7164a-0769-4dcf-b327-bed1b2e24c76 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f249d9bb-3cb2-42d6-8a4e-85503dfda924 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:10dbcfef-2a9c-4437-976b-1070e84ea946 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:27305163-cdd7-4861-a8d6-aa1346ebc0c4 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c177dc9-25ee-4fcc-b220-1a19a6584301 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4d211637-f933-45ef-8f56-d68826f242ef phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0e9f8151-eddf-4761-a3b5-aa22a766e311 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:22641585-b19c-4c94-9a1f-e07828a50789 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:379a6693-dfd7-41fd-a6dd-7a8c6099a93b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:563b400e-7de6-49ad-9036-e615a1c097f4 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:305fe37b-1499-451c-8d7d-495757c2ed7c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c97fa9e4-47ac-4f14-9534-668830e90509 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:89aab512-d0a2-4645-8006-2a6dc77e1b94 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac50cc88-3b21-4d0e-a6fb-9984af0e1842 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d745e199-4c8a-47de-89c0-21c9ca5359e1 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aba94bf1-a0b9-4172-b44e-4e658ad7fa2c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d1640efc-4dee-4bb6-8ebd-416125e3ac2b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c808a513-d31b-41e4-9075-8ec0a68f59c8 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c47d17e5-c6f5-4955-9cf5-04ff6eb6438b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d5499f2-b2da-4817-8c15-bf5a33130845 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19e57b02-d1e6-4115-a085-2043c97cf7fe phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f00c3730-69cd-48d1-8242-a812830e75c6 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aa29c923-1abc-49bb-a172-97a7f7c9666c phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a581da0-09ec-4255-a3c7-849362ca9cca phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9095b1c-50f8-4416-a8d4-0f8f3df5375b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8946b0e1-d217-4517-8e70-6eff1af5299a phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9158639f-0e30-4a18-8ea9-46d0c1f519e6 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4a4e8991-5c30-4b3f-a99e-1880ef56be10 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5d70cfbc-44e2-415c-8f86-7a6913e4924b phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:299dd82d-63ae-4b98-a7d4-21d9ee102445 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:c2f5aafa-df79-4aef-8fdd-a931b1a01aa1 phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:d7ecaca0-8458-44fb-bc22-d507e55d4992 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:38325380 uuid:5136949e-243e-470d-9fdb-eedb3f9b6d14 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P8Y infores:phenopacket-store PMID:38325380 uuid:642d14c9-f0ff-4d26-9cac-6ebd676a3b49 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:87a9b894-dd52-45e6-9681-92a4ce49a6b2 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9a14e089-f790-49e1-938c-4e8924022168 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:41dee855-c3c5-4abe-b774-00daf2a24a9e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:40fa9fef-2859-47a5-88ba-7c35f5b77f97 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:48d76f0b-1893-40b8-8e2e-ce0cb597cfb8 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:96404262-c224-46a0-8c72-160e5752b564 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:387f9249-5538-4003-acff-2272d166d278 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bb5a5584-0ab7-4739-9484-7d7874a7550e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d33a308c-d65a-4d51-9327-85bab1ab0907 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bb13063d-3034-49f4-b21e-853cf7fdd9ba phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:2582f13e-4caf-49d0-82fd-2857c5a3647e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:fb2ea9e9-c11c-4293-8cac-39526dc4555c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:da1f0121-1e0c-44e1-9f3b-00b77d64b5d0 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c0a1bfa6-0b02-4fbf-b8b6-847e4ee8ddd1 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a7b2109d-9d5f-4915-9ad6-44c1aacf85a4 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d2125ba4-0f63-418c-9fb0-eb411c7c65f0 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e1fec26e-2a6a-4072-b49d-d5a4493f974e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:213f0964-a2dc-4fe6-8c1f-5e31f7ceb7fb phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:fd9f798f-58c8-467a-a282-b7d83b00942d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b41e8c44-4eba-4707-9c27-167d8cbc2999 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:aa6791d7-389e-4072-99cc-1ae4b85a8877 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1592bbee-fad2-48cb-8319-d219a3171aea phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d7b34fc4-a2d2-4b98-80d5-f4b61c405750 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:43cd1c04-de55-475a-ada3-d696b3a381bc phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b79a5a88-13bb-4b62-90c9-bf90f4b93fa8 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5de3b06c-027d-497b-9dd9-bf3e9370bd22 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ca27851-bf23-4726-8649-be948b9ed9d3 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:15c3aed9-4bb7-4f16-8a07-0607bc929f4d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a1f0b4d-baeb-44ec-863e-340577606c27 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfa497c8-7841-45d6-9b43-ad88917ff871 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:13ebf5b9-7612-49ed-9f4c-87f74d1a4d49 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d5ed06a6-ee8a-4d66-ba61-f43ebe4bfbd6 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c2fb2a4-b782-46b5-87eb-c8c7d677d676 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26f3c96a-9515-4adf-856e-973d1d31162a phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0ddf42a3-ea9b-457f-8dee-c0a5bad1ad24 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:690c432a-dccc-462b-b804-6a5464161708 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f2c8d18a-4c42-421a-9471-7f13adf626a8 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2f0fb4b4-0827-47aa-bf0e-bf06260dda62 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:efa93fc7-83ad-4179-9890-4300efb7b2f5 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a4a425fa-6458-441c-83de-a60e7237533d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:626c3d16-d4c2-4a67-b15e-1d65b126e3e7 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:077750b5-3ea0-41a7-a076-1b6fa4667993 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc11a7ae-df89-44e7-bdb0-ec9ac3549e86 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f02fcbe-b538-4edb-a8e4-ba615af13458 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86635e55-548c-4507-abfb-abc40593781d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3ac91600-13c3-4b21-a4ea-b1125d4ba862 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c233799c-ffaa-4870-a99c-f7417f016062 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:90feae3e-4a34-4689-affd-6b96ce00fb90 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9e61d08d-4a83-4656-bab1-93a2dd7da645 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1996606d-f072-4287-bfd9-b6067acd0265 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19a33466-002d-4ddb-892c-f0df99e78c84 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:04422c94-d90f-4686-9ed1-ab0551f49ca1 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ac6d0c5-7a28-4c49-8338-68fab3fd0401 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:31dc1c85-ab2a-4f1c-8c05-a87bc64badce phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e4a2daf6-e52e-402e-ae3e-e9f7a9d5d102 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb395fe3-2aae-44d1-94f9-085d8d873f3d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7564d0c7-3d0b-4332-bcdb-c738a8a9e031 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1dd10a59-28d5-4b28-935a-a9d5e4f15409 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:273fbc49-36a7-4d5b-8bbe-f06d592b9b62 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:465e34cb-4d1c-49a7-b499-e454277b85fc phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:33fc6c9c-713b-46c4-9ecf-58fd95f950ac phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:195e5ccc-d230-4090-b1c8-41dc10a206e2 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db397630-573c-4ac6-a684-bbce9c7d2961 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5f6bdeb-9e72-47e2-86cc-df8fffdfd7ae phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f81ae2c1-0113-4111-b4e0-95d3d5e91f54 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e0df1c3-b5cc-4e50-b392-27d462b66421 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7dc89bf5-725d-42c1-a557-f5a57af01c3f phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e29f4af-5f12-438c-aaa8-4abedda4809f phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc6e303a-3798-45aa-8902-227eabf360f0 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1dc54c25-657a-436f-a150-c64a9d677986 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5bd0ff92-a925-48da-948b-9f6c04a5c61a phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df5b465f-3419-446a-a9a8-4f64343fc517 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4feee688-251e-4879-9f86-5db3ef2fcbc3 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:511956ea-9166-4a10-a930-d4ec662cb36d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5a03651-7bf5-4352-8782-70ab742f579a phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86673b0e-11c9-4bda-9bfe-106734b90f9a phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:790f775b-5973-4602-a22a-cf81d6c98f31 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1facf90f-923f-4693-934e-e18835439a82 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a6ea54ad-0ab0-4a4a-9f90-474d248cb4ee phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4e038568-6112-4d1d-ba4a-1a0996fa43da phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:63a9b564-0e7b-400d-ae1f-d9411fb1e019 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb1dbb73-4108-402d-a852-7c650267030e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3ec04037-b7ed-4c1a-aefe-2f88bb93d200 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:872804b1-f8d4-43fc-b2a9-ac50ba348090 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:39adcb49-d955-4039-abaa-3e02a4901b69 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2984c2dc-7170-4d99-9fed-ac3572d6b3d4 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bca27460-f6f7-4240-a6c6-b16eb8a78cd9 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de7a2ec2-23bf-4c5c-9e49-4df639878a91 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3c9ef3f2-36a0-40c3-86c6-418b2c1ff992 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a925379e-2be8-4d61-9180-29244366337c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a935a9c5-d331-428c-a485-10b473b5ad7c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71910b72-6668-4f27-bfae-048cbbfc3626 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5bf93419-c65a-4e35-a3fb-1e9a8a00643a phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:908740f7-4c8f-4396-a1ea-b7c3d18affd2 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:780c8986-2016-44b3-b8fd-b833f785142c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25cedd01-2d1b-4459-b7e7-e04592d43d7c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06deddb3-1bc8-4d24-9322-34289792660e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9d186dc-0f9e-47a5-a1d8-03fb0849cce3 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f99b0d7a-1d94-4772-970c-e5846c347b69 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b9920cf-c221-4da5-b66c-dfa957174da2 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4da68633-e9b4-4192-976c-ffbee64bba81 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55f2872e-98d3-40da-b19b-f69cda8847ea phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:133bad33-105f-4eba-9841-b658e6875c17 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:336d95f6-87f4-43ac-9572-72d9ad712c7c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e638e5de-3671-4615-a191-6047dcdc47aa phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01860f95-08bc-4ebd-9346-04b5621051bc phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e68f609f-9c55-493d-9944-6c91b6ce804a phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3eb168b-c84c-43d9-b0f3-55e2249313ad phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfb147ec-add5-45b6-8302-1bc1eabfd556 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:83d886fe-1a52-4dbd-bfb7-5f00005554da phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73ad1386-c0fc-45df-8571-21741fb691b3 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a3d0eaf4-85f5-42ce-ad7f-0c55c3f141b8 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd2d729a-1542-4ba5-9a52-6a78538ce9bd phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c8e0ffe-46cc-4ba0-aecf-c8af8216b413 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7ac6f39b-d52d-427b-ba00-7a96a4dfae7f phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7ca7db5d-edb8-4ca4-bb66-294b16166e43 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aaca292a-93e2-4741-8533-4a0bbe0cccb7 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f7ff8717-01d4-4a7e-acdf-5ba82f867361 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:72153bc7-09e1-4059-bd35-df96a86e28fe phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:68cfee16-d577-48c0-9db2-12ce1a6b7607 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:461bc73f-4b27-44aa-9db2-fb4f34bfe034 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01cc28f8-63da-44d6-8a32-fae8954a6d3f phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d085e35a-1b32-4602-b6ab-f79f573896f9 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c62edfe-4f88-40f9-a467-b5265f8c6882 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7dd15a66-0439-4f99-bab5-086bb4f3212f phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b6522c5-69f0-451a-9371-264360bd75d6 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e6593f5d-6752-493d-85e8-982032a1a8c1 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5596a402-6db7-4336-b6b0-2837c5127c45 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aa76a1d3-752e-4de6-86f3-b07ea75bba10 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:839e97e3-6e99-45fb-a2fb-b541f9ae9c26 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0163817-4b4f-4609-9d6d-a9161edb26ff phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1472447-9783-4758-bed3-af7df1b9ea3c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9aaa178d-ce43-4551-8669-bc1e9e5ad742 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9fb5f579-94e5-40e6-9727-d484c6745ec2 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80a0e7c2-c0f6-4694-a63d-888cb0067396 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dcb24bb7-4daf-487a-bf67-fb18309fd9ed phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8d45e268-3d78-4e6f-b37b-5ef7563aa5db phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ca7ea09-d125-4cee-9610-fd2c77f1031e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a8a097cd-e74e-4057-b7a7-ed0d6628ee37 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:54cdd20e-bd74-4219-8d51-a18d1b3f6908 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b08f2ee3-50f3-4038-a4e9-9e38688baf54 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:49c6ec8b-988d-440b-a9c9-11041a8d7ec1 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:632b6021-f199-4d7f-8c87-5abe2f8de249 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be3dbea7-5777-4254-a859-2cbddd6eea3f phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3b9fb8f8-37f9-401e-bf6e-fd422e69a5c5 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8622fcc-2dc0-4045-86ba-a12150356e20 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8052b913-ef43-4b3c-ba08-9b2fb48a8be4 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cc4ab237-4708-42f0-bd0f-e4c6c3bb9185 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25820503-607f-4ae4-8fb3-b3357b46bdd6 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a77bd144-51e6-4055-9e45-3b4a54584562 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d00b3689-26cf-4ca6-a066-b6efe878f09e phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:65197fd8-33ff-4a35-849c-7a78b9106ebf phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b2e2495-a86d-4cf1-9720-161b1c6bdb0c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:806bd4a7-601b-4012-9f71-5b9c4bf43f27 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b892a506-5363-436d-99e5-ac7417b0eabb phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6990f8cc-55a1-47cd-b86c-ce3bacb97f92 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6d7c54f2-f7f8-46b2-83d8-a45b3b545d46 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:734d63d1-a0a8-4ebe-a9e1-aba77fc155e8 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6bf8457-d8f0-4a3c-9c1e-6bb284d7d4ab phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f75a7f78-d5c6-480a-8466-cd918788efd3 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25b70398-fc44-4bf2-a72f-015c4a9bd569 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5169d338-1a89-4ac0-a7c9-f65b64288fdc phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2ac156e6-8c6b-417d-bbfd-455ff7830678 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb02ab13-9fc6-441a-83fd-2690c2f89cc5 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4129be00-d400-48ad-9b36-eff4d9f54fc7 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36b44c99-1506-4058-891d-c402feda68ed phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e9fc6070-05f7-4666-a1a1-a5fae2bbf5ca phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:abc031e9-465f-4549-8bcf-ad73255fd0f0 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:588b18de-10f7-47d7-8e05-be10efcbd9e8 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1b58464-dfb1-4071-bcfe-29b6bea22d67 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2d7c4d3-78f2-4649-91f4-a46aaa7e326d phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:41fa94ef-be3b-4c58-94c2-040561974f61 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59b4967f-94f9-470c-8e6a-61b37f05b8fa phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:67aa20b4-11ed-4801-85a6-8b4dabe34772 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:31ce6dc0-403c-4c89-a946-87da4adbdfee phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b857f37-f79f-453e-905a-37c2d8ad3dc0 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7bd4b26d-156b-466b-a931-f2f212aff38c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:22aa8e7e-8230-465f-9f1f-219e6c718bb2 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79db4a7c-8d5b-4acf-bf48-88a39c1d210c phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d1243ec-318e-4ea6-991f-bfbf59948fb1 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:94e1f528-2bdd-4ef7-b9ba-18319bd97127 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3fb18a6f-ca0f-48f2-99cf-18de6b9b3b99 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d1ebdbbe-9f78-4b37-85f9-b311aeaafad7 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d50a1f62-a6ef-4c00-80a5-8d42181562f1 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:126ac668-9f43-4f83-b1ad-9dc40ec9d452 phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:c2bc17a4-395d-4819-b3ae-1030da81bec6 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:52a4bc79-cb3f-4516-8f1a-f9e0f483fc55 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c31a1864-335e-47bd-9754-67053f9e9a7f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d206110f-f059-487d-80e9-cce99033a78f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:805aabd5-160a-4473-8c23-a6a249fb5dea phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b55e2896-7c71-492b-859f-5aa39102b3df phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b0d87a6b-ff5a-485c-8a59-08e844de0595 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:26343bc7-a36a-4486-b5c5-730aee9dcf92 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:39955317-7aa8-4de6-bd2f-ec0886a70cdb phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9fb7bd20-a840-4a49-894c-ac294d7cfd6c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7ff84c93-092c-4fd4-b313-2ca396585ad7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:50ed86fb-2a6d-42b4-b36b-675ce8ac291b phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:62af225b-8381-4f28-96e1-5a3d294ab546 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:576bd015-f5d9-4d3b-9dab-d608e52c97e0 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:144a45ec-5212-4c4f-9d4e-d95c44494a1b phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c577b088-4515-4060-88e3-ac241cacdcea phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ac3f81ac-9e84-4e01-86ec-074934a225b5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ac6caaa7-96a1-4277-b5c9-5a6fdc03ea34 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7ccfa4f3-84af-459d-b4e0-b85944d56138 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:feafe7e3-9732-46ac-bb94-332899fb1a52 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a9bd78af-6f93-4d0a-ba49-bf905ff3ba83 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0f4bdff3-8b6f-498b-b4e3-e94e563988ea phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5bc7375e-fd23-4425-87aa-f13c703bb174 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9c3e29ee-1ee8-4121-bd55-3b38a58e335d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ca7a9714-d818-4afc-90dc-8f0391dd0525 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b7af0bc4-f437-480f-bd44-c44f183b1884 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4570798a-4f83-4c68-924b-2d58400d03fd phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ffe72f4e-8605-482a-8955-cf1ac9aa0a69 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9e71ad35-60f6-488f-9a11-159dd5b646ca phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:65b2b929-93c7-45a7-9dce-f9d2bede448f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9c98e173-26ff-4bc3-b5ff-07398bded81d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:30b7d3a5-6ed4-4d14-9f69-f7d24d3a0bfa phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d61383f2-7d42-42fe-8dda-9db1c01efcc7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c201d144-ed05-435b-ad97-2efcecbc2435 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8d9c1df8-1e33-4f11-b16f-ba028bba7b3a phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7262cd32-bb72-4969-8049-787bd207063f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5a0c53a7-6202-4de7-bc5a-125e3ed1ac62 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6fcc4c53-1643-414b-b1fd-d7dea566e2b5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8999f12-2239-4db3-b194-fb4411171ab7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de4e89b5-0a5b-4906-9fd5-f78bada74d87 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c238803c-1f11-4846-b54c-eeb63d609ac9 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d16ec8fa-6d00-46cb-8df4-5f2786fd712c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:76ac60f4-3422-40b9-9d8f-74870db149c7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a6ab6a86-a239-4161-95b3-a50cab1b6cd2 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01654109-9133-4a1e-8db2-ef2d37a1093f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32951fa7-99bf-44b3-be63-89b226a9ac44 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:48ae53e7-dc3e-4729-82c2-808db8852eae phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:09127990-6648-4643-aa5d-272cb7f8831f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df9ebf5f-7abf-42a1-8831-13c77aa0b756 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:375fa077-af6d-4d4c-b399-408a6020bc81 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46028f43-c27f-494c-9065-7f42e9d36c14 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3f60798-ebb7-45a7-9efd-e18366a9043c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30cf19ea-31f9-40b4-95c2-2e12ae63d6b1 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3de3844d-276d-4559-8566-17ea9258f87b phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3aac87f-c2c7-452d-80ef-f762eee15d78 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f30a6eb4-70a9-4ad0-ae18-48e719be701f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d1b4761d-4523-4c53-a24c-fadd796d60da phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5376248c-82b3-4f8d-97be-98d7850656e4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:00518d58-8e8a-4082-b660-6b65a3c289a3 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:95064fe6-1b0b-4d7c-a8be-f8f6104a55b0 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1fb65281-bbc2-474c-8b6c-b54db0f6208d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a0e22f59-39fc-4b31-81da-94c173f69865 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f6286a66-6006-4fee-a6f5-c6640502848f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c231849-a205-4fad-973d-b3ecc146205e phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:16456f27-4d84-40e5-a40d-210ad970aa04 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb4f79ab-cd9f-4103-b9e7-29ef8b04a59b phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0bde275-0a8e-4ccf-8da4-e9ce21547490 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a7659fdc-57cf-406a-ac19-9cbf8242d334 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a522a0b8-6fc1-4f72-9da0-92e9b782d01e phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8c29072f-b13e-4739-bc36-5bfcd7458642 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbcdd699-0e87-4ea4-ad74-c02d35662704 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03cf8a0e-b73d-49a5-a28d-92baf9f23dd3 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c22cf5cf-e876-42ae-a98d-6d6e41c1651f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dfe07c3e-8d79-4f30-9b22-747bd437a110 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01062b4a-5cdd-4a18-801a-e8c46ce52bb7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a94ad747-84a0-4e34-b4d4-f91d893fbfb9 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1247bf0e-e4f2-422a-aab0-bad4462f202f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5cd49ffb-f993-4c82-b062-ebc063425f5f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ba728809-d70d-483a-a0c8-9fe5e9b0ec41 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:67355768-d265-4a52-b74e-ed2cc9c9f87a phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:43a5a56b-2ddd-4b8c-b016-54de581fc4eb phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e9dc67f-bc8a-4352-af3a-b0e65234b9ae phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0271a8c1-4984-4a80-bbcd-356f80ef0b22 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74ccfcb7-3340-4dcb-ae39-1377c967706f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98137ad0-ae76-4fa4-aafb-09c226e14cac phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a866a9c8-9939-40de-b9a4-b70c2fef67e0 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b2acbeaf-6088-4c75-8d51-bea9d60215e7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7675f2f9-4ebe-4791-a2fe-b6c44b4db316 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c2b68636-53eb-4e3f-950d-50e5ac92775f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3a58ed6-a953-443d-8b7e-dcecb0c3b103 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:85e5951e-eefc-48c4-bf71-6b8ee6c056d8 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:60dc59cd-7213-4633-9bb0-aa00088e4a11 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f1ae9132-f1cb-4ad3-acf8-70df467113a3 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:299ac2e5-a70f-4aa5-a06f-6dd26b2ab461 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:91086ab7-efb8-42a5-adad-6fea6ebbb4eb phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5aad65a5-44dc-43e3-98fa-0eaf80685de5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f74feaf1-04a2-43cb-afd1-56cfca121590 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d54b40d9-5273-485e-80e7-57011191d2c4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f5c78e5b-915d-4bda-86ef-88a7230ea031 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1398d501-37cc-4c66-a1ba-dc2c7a344340 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6be92146-b096-4104-aa06-4dafbde2d47f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc9c9c19-5699-48ea-bff9-a96dc05ba7f4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:556f2380-aaeb-4340-8172-e6846046ed32 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b03131e5-816e-4bd8-91d3-8551ac32b193 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:778c4158-4fc8-4ac2-a130-de7760062a06 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:49b4ac62-284d-4806-9e84-f4fbd62c98cf phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80884778-a99a-4bac-adf7-d3b54364d5ea phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8b315057-0e15-4d8b-ad58-6176dfe54dc2 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:782396b5-6a3b-436a-bed4-4bc011512744 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:07379595-c114-4883-b3fc-6fad7a0aa42a phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:696f0667-cb84-41d6-9966-993559d0f496 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f13612be-381b-43cc-8365-89e63739d2e2 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7fa0e728-f72b-4a87-9d1f-a1e0ce8b7803 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cec09fbe-6a1d-4db3-83d5-c516aab4a04f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0882ecde-639c-4eec-9d9f-c992e14b130f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7707273c-5dc6-4863-a94c-d6cb594cd5ad phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1e251fea-9091-476b-93a9-b79609bcd8ad phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d69ef311-034c-4d69-820b-c7acd8f6c09c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f1d7ca25-b39a-428e-9bf0-81738cea2736 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9f180c0-3602-4179-bd80-3a57763874f0 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:741a5a8a-f29a-4b47-b4cd-f8840634eea1 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5fbb0dc0-6cf5-4ffb-897e-3cca03bef11f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7777db0b-05ad-4600-9637-a1f38cad11a8 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6663f953-4d53-4034-abfe-0ba7601fd3d4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19a6a2cf-141a-4a98-bf10-b7112631622e phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1fb7a186-f6ba-4409-9a82-25f7b4b4b0f7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80da0253-469b-494f-b1ab-857970d8932d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:56880212-cb03-45bb-8765-5b6908486a28 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71a15c89-12a9-4afd-9e7f-ff9c6d177305 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bbba29cd-ba14-4603-afeb-4f57579c3fb1 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:49576ed3-1c81-481a-8d21-6941c376d2c7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1f11ed8-64a7-4f56-b56c-be32446dc7f5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f87932b5-a80e-494e-b70d-c1a24a0d0187 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8aa552b-13dd-4d70-95b4-093346e7ded7 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:58fcba6d-74ad-49d4-bf00-d66cd944a849 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b12e5aa2-dea8-47d7-b73f-36aee3185812 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46e6a33a-2ac0-4241-be12-cd0433c64f99 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:83df4f8b-cf69-4c88-95f4-0c1af2c1d820 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:78d5e558-733d-4f6b-8d41-6d19471e08c4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:beb72816-c2b7-43e3-a52d-8cb38e6045cf phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f5b12acc-0934-4650-99b7-c1c5b8520e08 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cddd81f1-47b0-453b-8935-f329fe4f741d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4dca47b9-92fd-484e-8299-9a3c74d86768 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3488830b-e002-4924-950b-26434147e47d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3f709af7-dfea-4de3-b3f1-0e0f71335717 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ed28f892-f3d9-4254-b6ee-a4fc00546103 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bd1df44c-d11a-4918-9d73-bad83991e823 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42d18dcc-0f73-4220-aed6-d05756cff07a phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:308c5188-0f75-4ef4-b9b7-73266c6a8fec phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7850cf23-c771-4697-88dc-1c7d73b20e2f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1fc95a52-332f-4954-a32d-bc73ee2840ed phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a58801cf-831f-4ec8-bdd9-96bb9e799da1 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:90487c9b-2ddd-4589-86c1-6f3c43268749 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc7cfb4e-95c4-4ca5-8231-9f3a3b77a786 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64487446-9fa9-4f1b-9f3b-9f0f13efb8ca phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:343b0c4d-bd75-4f0f-8cd6-41b91834eca1 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99270c23-5149-44a5-a561-3ea16dc1a556 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ec282e7-8f59-434e-bf0b-27753ab5ed37 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98dc646f-2ca3-4d57-9451-37371af48d34 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6be574c4-2766-4b9a-ae1c-19753b3410f4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53943e62-a0cf-49db-b476-850e69abbbbf phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cfa55e33-7a08-4941-9ad7-a1e3fc9ffc75 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5542d806-f3c6-4ce5-b86b-69aaffdab884 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:418de501-d91a-4781-a2f2-f1385b79740d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b418951-e3e7-4611-8569-6bf4198cda52 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:77017132-8dbc-463a-be3f-0c57fbdcc640 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:347416c2-24d0-493b-9c55-f9daaf7bfde5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ed2ab1d5-0450-46b2-8760-56d075575885 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e7b5f12c-9f32-43fd-8248-ae621e795c79 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e91f0e05-0a75-416c-8b14-4bab26bc34d9 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20078203-67f2-44fb-bae6-206a060a8d19 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:187cd06e-2e92-49cd-98c7-7345870f6fb0 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:099e0cf0-b4fb-434a-93bc-030e24dd8895 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bb0a15b9-7a26-45e4-b3e7-a3dbe2864fb5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:807e7c3f-0a75-46cf-b5dc-cf3816e147f5 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c8541fcd-eaa3-40a9-a09f-164aaeac224c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:306a5a63-d590-4876-9fb2-16def394432c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a299272-e453-4c91-a699-3607d1d7d08f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a3bdae01-2d96-4eb5-b264-7fb4b15c2211 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:97a10c29-1daf-4175-b505-a69ba05a11f2 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b06ebf8-632c-48a9-97ae-a0409568e7d0 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fce79d4f-1bd5-4e79-afc6-0facdcf81c7d phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:60cc38dc-b2f6-4921-9d45-b0852acb229c phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ad8da8f-2460-4225-a925-bfdf514c08e9 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f251adde-9956-49b1-bcdb-01fba56f1720 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c7dabc37-e475-4106-9939-519566eb5498 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb449445-a61e-42e8-8f44-6b1b48bd9171 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32cf01da-5695-4cb9-8e11-361c9a1a58a4 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f8cfd746-13c3-4f75-9abe-d0ad42c14f55 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d6bfdfda-9824-4cee-a89c-7eb2cb7ecb85 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bab8e7a7-9a83-494b-9975-1c97a92a475f phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:314df17d-83eb-436c-92a9-9919ed8ffe1a phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59539e3e-42d3-4f20-8266-c22311a4b338 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:8acd0cfb-2ea0-486f-8ed1-f15d14d2f8d3 phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:5d41b351-8bc9-40ce-987b-110d4604fddd phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1c892a7b-1405-4da3-80d6-61d182321a9e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d2971243-6860-4ffc-82a7-19805af54400 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:00f534cf-494e-4f48-8464-35f3cca3567d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:697e4595-ae67-489a-90ef-c48172b96fe4 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:553c6e1e-8653-42ff-a798-d74467e66618 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b69da9bc-91e3-4ae4-9f30-f84225b05b9d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:c679a6e3-d129-4e26-9ee4-c569be016b2e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9b770bd7-c768-4b90-a21b-e2c7a023f91b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0e3b7e55-cea1-459b-a259-5a3fb536fbf5 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7eaffe1a-498f-429e-98e3-215864b4c6ac phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9b303f2a-6e75-41c3-bd26-099726286e9c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e38f4d4f-2ec8-45a7-9857-9c5819354f41 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3a428034-25d2-4f8b-9e09-8c399bb96d0f phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:30a447bc-5f25-4087-bf00-bd341b1ad94e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:64b0f508-571c-45f3-9b71-aaaacee3934a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:08bdcfeb-4894-4f7f-a08a-f7dabe4371d8 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:15a2471c-d9c2-4830-869f-d5347270a8a9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5aea3143-fb5e-4dc3-8142-4659a3503a28 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4c618a3f-6130-4879-857e-4616002b0bf2 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:10ea83b6-ac64-461b-aed5-57043d0bb638 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0d0396be-2866-4453-8e77-acfbfb941f9b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:d3a89062-0527-4ebf-ae07-fdd619e6c3d3 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:27926174-7d9f-4f9c-8575-08e6685e4767 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:83c54056-e2e0-41c5-a908-6156f7bea513 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:07c72fe0-cb46-4963-b709-72cc6ecafa72 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8fcc8316-d0d3-4697-b6bd-4acc7ce76017 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:48e91feb-94ac-42e8-88b6-ef328b89aa7d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f0ba29a6-1697-4825-b2b4-15d47180877f phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7c1aafc3-9238-4672-a6ae-998493da5fcc phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:568cf027-4675-4511-9609-588e90078c55 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6069e448-810c-45e6-a5d1-2183c06f59ac phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2ec3907-d5d7-4097-b2b8-dc5e1af74901 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:575ed694-4256-49c0-b5e7-007e2461acb6 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7823d822-2096-4580-9e56-437d7878df1e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbba178c-5dee-4025-8b84-ab7bd594483e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0bb305f7-91a1-4f7d-ba85-feda73131e0c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:17d1512b-83a8-4992-b918-50e2ced56a4c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:581d19ce-018a-4410-a831-6b1024b9a188 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6f11e5da-d29f-4e7c-b0f8-ba2cea8963b9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1a503283-0292-467c-94e1-48617fda1622 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9af9a299-c37b-4698-8b80-f3fb765f2558 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6cc148a6-aa13-4a6a-9d11-ff90e756454d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f33d45e-ed7a-4a8c-8ea0-7950bef774f6 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b017182d-e22a-4644-92e8-7466b87c0f60 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2de3617e-2b18-457f-8e11-0271043e3cec phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdaf57d0-506d-41c5-801c-003e6c6739de phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:35d00a64-3cf9-4f39-b604-69f77e03d130 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc2679cc-439a-4f8c-b296-333b237e5992 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:087e1c1d-6655-48ed-aa40-4cab3f272b94 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0f5303a3-6212-451f-8810-9b2778ac04b1 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb99d9f8-2794-41ef-9cd8-5114db531cd3 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8c027a35-84bb-4a8a-a2d8-884473870eea phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:993f9dfa-2252-46f7-9941-b74ccafc629c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d6317b5-7ce6-472d-9956-682fc0be29ae phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8dccdbe-acc5-4418-b25b-425c522127b6 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab8facf6-fd37-41e9-baff-d2f6b8d61b04 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ec11c1d3-de10-48f1-a34d-ee14db1d104a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e597b84b-2128-4f49-b0d2-d0115ea28f3b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:16e46ab5-a8c3-4d74-bed3-3d35ad8e1232 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5d659cbe-2e14-4caf-b727-d5125d67151a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2bdb2039-4b69-4931-a340-46d99169e270 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c5e96948-8245-411b-b8c7-abf5984d2dbf phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d82c2792-80f0-4dab-a9f1-fb6a6e90d54a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc95de39-1064-48b6-8677-b9c48af87b4d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ecfa4d87-3e1f-4d68-a1e1-77b60522d69c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:597d73d2-4fe2-4166-89be-127277bdcebf phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e90a2e8d-a389-4f6e-935f-606843e9a378 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c06df9b8-d737-49a5-89da-15c058ebef60 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ed7c1d3e-9bb2-48ab-91af-00576e5f7806 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ed006463-4d8b-4182-a57f-66904be030c0 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:da2d1eb2-5535-404d-954a-b7f26b7e3c83 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:81d18914-c4a0-47fd-873d-f0c82c86f3e9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0d4af41-3151-4ef3-8e1a-07664e1d9e91 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ad8ff96d-6d17-4200-9138-9c002e72a026 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c9a786cf-ad77-4f5b-802d-a8b9a56190d4 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f24ec2f7-4aa8-41dc-bc58-da7f3d3c4181 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b0fed1c0-b440-40f7-ab8f-37ffe771ed48 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59b0efae-4f8f-44ff-a582-d43df06cac67 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0909a144-ff30-4a63-a400-7dd33d499596 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a42a878f-50e1-41ba-a2cb-bcc06de00f23 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:beabd62e-c44c-41a2-9bc8-21a52cd26ffb phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9560d2ac-84b9-45de-b67f-7f924b367038 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:343fd16a-ebc9-4cd1-8913-54a571330026 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c71c32d8-a30a-4b9a-8f77-ac993071a81f phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:426c7e37-38d9-4c7b-aa98-f73be7ae095c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8c87e7cb-a35c-473a-826c-6d1764ca638c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:820286f7-e005-4dad-9b02-0c935d25cf70 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee054604-d7a8-424d-8818-68216035149e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3cea6d8d-f197-4c63-823b-0fe6c8139a8b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:57ad032b-1d9b-4ce6-a56c-6aae0cfdc0f5 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87d440c6-2831-4ae8-acba-bb0109d5989a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c190d5bf-1e55-4643-9b0e-4e6f9feea6c9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59f948d7-40c3-4ca2-815b-c836c0c284bf phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e873be1-fbcc-4918-b6e7-a14d29541021 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee3a2071-6e6d-4716-aecf-d767e7283bf1 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3af7103-d0d0-46de-bd72-0ea9b3939256 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b916235d-3fd0-4d1a-92a2-aee4de2643a6 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:550201c9-bece-45db-b639-8191efffa58b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a6c4aa03-1777-47c6-8893-40c75b9c0ee4 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:676973b5-9256-432b-9a8f-0978e35bd74d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7bead0f8-dd48-40da-8916-b44a7e1e43d3 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c239b6c-8ba4-41a1-b1de-59498ada818c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dcd39f51-ee06-4dfc-80b6-0e25e59f3174 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d8381ed6-73b7-40c0-a637-21403be95c83 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:31861cc9-3135-4632-8ff3-05a66f1e1a4a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:017be017-fd96-47b1-9692-afc5a86fa96c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3339d67-193b-4b33-aba2-e7abc578c4b0 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:896b241a-65db-4e3d-9021-0261d670ac9f phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3396fb2d-bed4-4998-abc8-ff34fcd035f9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b049a509-7fd7-48cd-bafd-090949cbd469 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c84fce91-e8c2-4c12-8c1e-0c2887c7732d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:300a286d-a9f8-4f8f-8f18-d641e248ede8 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:23bac75f-9363-4b52-bde6-5bbd73c4a348 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ebd14b6e-72ec-4f96-aff5-b8738218274b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:538e1f04-40d6-4797-887f-79f9fe627309 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c8e50574-2c3a-4321-bb88-39f6724ced9c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ffa5d3d0-c75b-42ca-a3aa-419c033368b7 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:499e1efb-c395-4842-bca0-b4b63546dd81 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a8dccc6-fdd1-4dd6-ae7a-0d55b9ae1508 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f06f8ae7-66d5-4a86-879f-9eb7304f14db phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:09d09466-38b6-4613-8410-20be6502aea9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f923971-ab01-4028-b008-3ac7699f115b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:08379130-a3ed-470c-9cd5-2c420113d7af phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:33fadff4-4758-43cd-b31f-9051d0122b72 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:69224826-f79f-4b0b-9f87-67e33f5bc909 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:912596f6-22ea-4bf0-adf6-b78289268e2a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:445e9c05-156c-4bf7-8a6f-70e1cbfe6f3a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7ec5b71d-57e6-4dd6-897e-abdc062091c4 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a3e27005-2d92-456d-be5c-4c4a836c8a94 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c96043c-9778-4618-a057-da6499c110a0 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87d0c511-9742-456f-8030-6645b8e0e266 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:946e158b-8204-484f-b3b6-045511cdd992 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1be644b7-35a1-4b53-9323-2016f94cebf9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:51669adf-3487-4350-a8d8-28780f0c9167 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3bccc4b9-4c6c-48c8-9c3a-3be6b67a46d8 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b354672a-c76e-4421-9f58-64b89e12114b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee0d67f8-549a-4ae2-9b71-a1c32dca5f16 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a3e5e472-871d-4422-a18c-7360b948ccf8 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:486c2705-f820-47fa-a58b-177748b07ac8 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bcb48295-7b49-4acb-87e6-abf9a3ecb649 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:09db7c23-1fdf-441a-8dd2-6a6c4501e7af phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b00047f-47fe-47f0-bc1f-03f0a363b0b8 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eaf26080-c786-427d-baa4-7d8558834c5a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:62b3dbff-ac12-4103-b0ed-b575e275a76d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdb71b08-6690-4433-a05e-1bb951cbd536 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b60a33c-9a15-470d-9088-cd253955ddde phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a743b037-328d-43ad-8d2a-defe1eb83b49 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c59a9fdc-d055-4f09-ae79-fdc440279a9f phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73115247-cb26-47c1-b7e5-e93632d5cc63 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a1549aa-4d1a-4a42-9a2c-0df304c91580 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ced3585d-3570-400c-83f8-f66d5e229540 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0923ee20-56d8-483f-af72-1d930508057a phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce81a256-18ed-496b-b69c-334f960680c2 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75b738cc-87f6-43d8-be32-33d5a28cbafc phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18c7d226-1b16-4bc5-b9d6-451c23750797 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2482f104-99a5-42a8-a513-4010c6ed24ae phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e16204a4-800c-453e-9b4b-6ca2bdaf4f22 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:40053d65-f8ba-4af4-9595-1cfa522b456c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d8718722-1351-4457-9058-f48c3eeb764d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e4ce57a-63d0-427d-b1f9-785aec8dbd79 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c2d6707c-7c3a-462a-be94-e8c297552fc6 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:905bb544-3991-414a-a0fd-a797e3b6d63e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd73b62a-e8ff-48a0-848d-dcd9535463b2 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce96db5c-8215-4458-8f75-51a4e094130f phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf7794e6-ae3e-4691-bc60-fcd9c43a9946 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:16699609-c417-4b07-96f0-ce34e900059e phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53b44546-2b76-4e10-b852-54d7a99e3661 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6aa73a8d-5ab5-4d26-b914-8949599d887d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:866f1934-6706-4db8-8a58-f0894c186bfa phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7a173e9-a41a-4254-ac26-e99f1235e6d2 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b2511124-9044-4085-8751-542025db0a99 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:90dc9e49-75f8-4425-97bf-8e80de8c1e15 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e06d9605-17a5-4b5f-90d2-70764cb5f823 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02110843-3d2b-411c-be8f-7dd5b3d4e1b0 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2d52eee8-e32f-436d-bc03-aecfe564ba85 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c2625b3-697b-409e-98df-e681791df56c phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8dffde84-e7fd-43ee-848b-fe7dd59edcd9 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a504af9b-1ce4-49a4-b110-ef2b40926ed6 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f127554-9947-4543-9b28-1e67eafc3634 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d3d05e9b-3991-48f4-8948-701e33aadb3d phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ff0b993-7829-42b5-973a-2d74fd5bc95b phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d424dcf3-19f2-428a-aa60-07b3e20a4444 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0834fc27-43b0-4af0-a67d-b1813d3befa1 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:27ef2f55-f399-4a52-9508-b47f43617cba phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:459f5eab-28cc-41cf-99ff-288afb562894 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b2b8af51-b470-4031-8d6f-3a322c98ba45 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7457172d-05aa-45b3-81e0-9cf18e1df252 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cb204344-9ae5-4780-a302-f7217bab9769 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55c6ba98-0faa-47c5-9d82-0e35feb25048 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:687f73fb-bcf8-40b4-aaa4-7b1a745d8575 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:91be91e8-bfa0-40d4-9bd8-7099918fc887 phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:220b8f1e-6231-476f-a194-916bcf322467 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:39b32a75-b7ea-4d20-ba61-30f389f64c5a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f9664faf-271e-4a5f-bdd0-095654273012 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:65c92579-c5e1-4b58-8835-f30f0f022f17 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a83474af-b50a-471b-8f8f-8984c3c3c98e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8475c650-3138-4144-9e91-20b13013cebe phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:71d3f5f7-855d-4335-b21b-32aad2210ade phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:27423145-0d71-4022-8069-48122de345fc phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a7d8f902-c9ba-4454-ae35-e9e834a9d45e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6cec93dc-4efe-4576-8443-bbe8d4a1e09e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7bb44af3-4c44-4f5e-90b0-73da33efa75b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ffb29426-259e-43fe-b917-1135e56c02df phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:22bf2592-5958-451a-b69c-1f8dffaa76ee phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:42c666bf-a2e7-4068-9f6c-948432c9b472 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8e22c055-564e-4330-ac00-ba9051b04f18 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6bae89c1-a899-4c18-bbc2-090491799b3b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:121dbbd8-291b-46ba-883d-00419e1fdb4f phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b0ef7f51-5ac1-4f2a-b61b-bb6abc5c6c07 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:784ce940-b160-45f0-a1eb-41a9b0117109 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6edd4dc5-b412-4da9-b96a-e8435668abc2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:90b2144b-66ad-49b5-a0f1-9e470c699cd9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:48608523-35f6-45ab-9c34-203cf1b317eb phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:291107a8-6a16-4764-89b9-09d446ac78d9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4d9030b3-40cb-4eeb-885c-5a148008ebe1 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b5fb04ed-bda0-4079-9c1e-a7a58a7aa298 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6144e42f-e73b-444d-8f4b-46a8a5833d31 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8fa1f876-2b4b-4658-87c0-3c4cda747bbb phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0fa78b3c-edb9-4817-8f2f-70ef7c198742 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b3977ce-83a0-4a40-890c-ffad08e7e3c5 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b23b34e-f4ff-4762-9e4e-d5a575e07644 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c923566c-48b4-4120-9dfa-7b61e32678ea phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:91c235ea-b39b-4aea-be76-0cfdc54b4d71 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73cfd8f9-cf85-4120-b3e3-dd3c23c1f276 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bfec8429-1056-49f7-a3da-86c84743f310 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1d5942b3-b760-4941-9162-de2ce3dd00b1 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9e0d66a3-971d-4369-a651-09658b380f65 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52950082-8edc-4ae1-9062-18669c0bcc25 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:874dd9d4-e83d-48ba-b52e-f45df8d57e13 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0eafca06-cf37-4042-a606-2ea21bb167ba phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:51bd93bf-0e27-496c-ba0a-666934fd6974 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:95595573-7a40-4710-8927-392d38ee17c2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20abc7b9-4acd-4a46-b93a-9d8dd44ec11c phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c984ab11-d996-4f20-b887-c61c3bdf9e9e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8278ee1a-4f90-495d-a906-cababccc1a87 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:48acaeb9-abba-42a8-af03-16a32e07b6b5 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1cc7176e-ad52-4fe7-b8d2-426b4e8beeec phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:560450b3-abc4-48e1-89c0-077f8fefc2bf phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4d679f66-dfa3-4d5a-bb2c-5cae22f01c28 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:761e0913-8efd-4265-9c1f-3cc13979dfa3 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4492f262-35e0-45a2-8dcc-965a7c28743d phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:54a3e7c9-749f-4adc-91f9-cf026df10e80 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2f0f5205-53c6-42ee-aced-2a5d608d16e7 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5e7f8a8-e145-47c2-bb3d-9c42914f8e96 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1327069-2318-49c7-864a-57d93f67bdc4 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c3d5b65-58f8-44ae-8ecb-c8387d1d9e7d phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42efec90-440f-4685-b83d-72d41b410dd1 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:748a586b-7499-4e36-9f86-608081cf0d7a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75f7e7ca-127f-439f-a1e2-7c43934aedc0 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:862c74f1-0768-492b-bd90-2a233069bbf8 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2efe648-98d2-484b-a4fa-ec47a89659d8 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46c7bcf0-a05a-408b-bb96-881e17cb1d22 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7cd33acd-0f60-4339-b90e-bbdc6a7b531a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5a346e2-8e7b-4e99-ba3c-2a985d4296e5 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96f5c901-7ed6-4187-bf0f-236ac34a96e3 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4e9ee231-0145-4d7b-88d1-e0d01ee8f947 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0a88944-58be-44ef-9620-7c4f982e543b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:78b3eca2-9f3d-46a5-9bbf-a26018d843e0 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fc219352-a749-4a8d-ac86-9f6614602842 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:446135ae-7a15-444a-b741-9e3353802505 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:68dc83da-e883-41b3-8a0e-e760ff02ca8b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9875dd5-fd27-465a-90a4-29af5d27c9e8 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:763d31f8-dc98-43a2-a4b1-c2c928679ea3 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:742744c4-94f4-4160-9b61-cbab42632c54 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ead90a2f-c525-48c4-bceb-5465965b6c21 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46da5b4e-1066-490e-bbf7-2f062d28e754 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:27bc6987-5116-4df1-9019-f279b3fdce71 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b3ff3ac-e952-4a37-9740-3f1875795f7e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:548e662e-58a7-4bea-ab3e-301c495540fd phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32fce22d-9954-43ef-9605-cffde0420616 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9295c655-7ea7-4a65-a1ff-d833e7b92dbf phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:afc9285c-7e69-480a-adc8-ed05581bd0bf phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c7d9e9b4-b0c9-4405-8bea-ec6efe12b20a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c124d947-bd68-4dfb-ac0c-bc8218c02e8b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:73d74798-1098-4ee1-9648-984ce0fd319f phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6dd5bc6-91af-4094-baba-371ebf51cf73 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:abc4bfd5-2f1c-4921-b82d-fc3e58e5be5d phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b6a5bda5-e478-4d0e-8253-f261d1a88422 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1b081796-93ed-4592-92a8-cc8572351729 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0795b680-5771-4bb0-b432-0ee3ff1ce166 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b269e570-9c14-44fa-98f7-bfefad75e261 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bced5bac-bbf3-463d-9e63-d6434ccd9246 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6afa04cd-75b8-499e-931e-51434638fc99 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0e367b2-ea50-4624-a857-090d1b2044c8 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:172d7afb-8b9f-4e21-be09-d76747b78beb phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd73acdc-ea0d-469c-89c4-22a028ddf0a6 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b0f91fc9-5a8d-49e0-a2d4-95668a44a8be phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9551e700-db6b-472a-bc7a-0cc2098dfa95 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4a25096a-0106-432c-9b33-26edadfb84ea phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8a96249f-68d5-4d97-a564-9b9b3fd1ce90 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d93fe1a8-b2f1-44d9-a40c-f7f2b2d60184 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dee22035-470a-493b-acbd-2a9b5bf6d477 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6e5efe0-6fce-4a95-907a-f0daa9f8e873 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2c528aeb-7b4b-4cda-93eb-728679865032 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9ee6e8a-4d04-48af-b0a3-6233c65d258f phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:acc1e6e9-b5ea-4603-b8ce-1d50569326df phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b59a6955-eb3a-45e8-8dd2-c1a48eab9d56 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:126d2faa-eb76-4dd3-9812-79695408e68a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46713d79-6a1e-49e1-88b1-ed1b8e2acd07 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05e9d27c-440b-4dba-8e55-584018f39d5e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:37264cfb-e049-4a29-83c6-bd6864d8a79d phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf70e855-9245-4e84-9cf4-9df2ff312ea7 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5164b4fb-311e-484c-af4d-574a90a69831 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a3e85f2-cabe-4eaf-98df-0c026540c72d phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bc342a33-1020-4cbd-b75f-0463b3af51dc phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:af905505-9096-41d7-bdae-edc529ee5e30 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2ea9989-d387-40f4-ae7b-502a24891937 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1eadd131-0e50-4302-90de-0f4938d0a462 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:954ac917-0d55-4ebb-8d16-73bc6e1e9099 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:662ec9d3-eeb1-437d-8d22-8dd0b002f161 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87c435ec-1b6b-4019-804e-b3ca51b016d1 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20ef0cfc-3de9-4e40-8511-0511cf4e04d0 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:578a2251-fb86-49bd-a2f7-b59576478e2e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fbc11ac5-3c4f-4464-8a84-5440d766f9b5 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:83488175-b84e-4ffb-8030-2b8fb6349892 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a53598a-f676-43cf-b0f6-df67d1a01ef1 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:544efacb-e644-4cef-860c-7a81dd3a31c6 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4106568e-0f7a-4ae6-8110-a47c161c4ec6 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d1dbbc9-a275-479f-8308-d86b79f6b7a2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b4d83ec-4251-408b-a5e4-1e8c46988643 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6515dac9-90e8-4870-822e-f074cc1fbbe9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4d5e3370-c7dc-4b6a-808b-741e30e42327 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:491bc91b-12fe-4490-a61f-cd3454caa094 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05538de1-32b1-4d8e-8e8c-823872356873 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:30f3def7-69d1-4d49-babc-ca1d7438fdb9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:151fe5e3-7349-4319-b437-ac1651ad04be phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3649c7a-eebb-4303-bde1-00628556ae94 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:763e911a-8e66-42de-a46f-32ba1ed14ff9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:af7a334a-1516-4046-b210-0de17e7fed48 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dfe07509-7512-4650-b9f7-b2c3c2856491 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11d878ec-55be-4c27-a569-c62f788029a6 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b21b3aae-8c04-40d0-a475-544f2e534362 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ac5bce8a-4635-4b08-8d03-d15d624d896f phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5810d14d-d80d-4c8f-ba12-6d8087e2a4a4 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:abacbb43-ccef-460a-882c-cf7c004407a0 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c0b69bf-e098-490b-a78e-b0d396159555 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e3c9cf2-0fb9-4ac3-8551-1261aa097cc9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d7ce314-7950-41b0-9ecb-0a9b8c0624b9 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1543417-3dcc-44b1-b961-772f9da28b33 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2de24fe2-4acc-46d0-91dc-ac0b60f6b539 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df657364-c6e2-4a02-9432-d1d23395cc5c phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03369188-7032-4f4f-99e0-623d72db463a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ee09f0a4-c533-4d67-9056-76a10682edbb phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5a0a574-f4c1-442a-a96e-1d6b6a2c020b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a3bbabd-40c2-4d65-95b1-ba1c6788b589 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:114bcab6-d9bf-4ebb-80da-36aeeeb1b613 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:88763874-ad99-45d5-9c1c-afb6422fb103 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:739d4f32-6173-4c11-a0fe-61aeec830e85 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0f49915-f571-4ed3-9492-63e33c3acf54 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8426121d-48e7-4a39-ac49-33dde1e809a2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:93572026-a020-4d88-986e-d7fe24763ac2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a6d1b83-af5c-4d79-9ac2-741beb59ec01 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1e48f227-f5e8-48e8-94d9-b0949f1f0fca phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c135c4e7-8354-47d1-b8f7-14f2825b248b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1184d6f-3566-4099-9de2-57083653233d phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f54cb30-b713-4293-92c3-98f2ec1498f2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e79979f2-5650-4470-a0e4-700b5f167dd1 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f94b83fe-615b-4a4d-b56f-49706fa09616 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e0db6a24-4b81-4bd7-958c-0ac9aead476c phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44876297-e473-4ccd-a3e1-6837acad641c phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fa515e77-8268-4a2d-91ea-cb5396747961 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3782b5f2-f193-44d8-879f-941df053891e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:28fd63f3-c6b4-4a3f-9ba7-d19987eddb9e phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5e290760-9e41-4702-a49e-7573c214027b phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ea65acce-db40-40aa-9d1c-fbce92c85649 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:552bec1b-3338-4219-8ff2-48525906cc05 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9f9342c0-4108-481e-b6f3-75657c44f953 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:02010a90-7f08-49d1-bc41-76c7cfc1cfc2 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:90ac8c90-cbd1-44ea-8c58-f67e1c35e365 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3460363e-a239-41b0-8333-23d240bdac0a phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:40bec5c8-c50c-4124-adf3-426fba499564 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:85ac5941-1496-4ac9-9a21-aa3d7b7cdbe4 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb4d4283-36c1-4e19-bfad-6b00e7af27f5 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9ae1d78-12f6-4ee6-be9d-f807a8eb7f36 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ca893ea-b9df-49d3-9b9c-ccfab94487bf phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf4aa254-bc63-455d-98be-5986fdd0ef88 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7ac050a2-ebc4-4801-b3cf-332b32004375 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:184460a8-3dc7-4311-ba0e-0830d1917a25 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ca3fca39-0f9c-4854-ad01-adcfc68735a4 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0de6280f-f129-4041-9c58-b95552705fdd phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5653c475-b786-4cc0-b7b4-0d5e885a699f phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0ae3bd20-bc77-451f-bc83-7a0f51c806c5 phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:97740ec0-21b9-49af-9eed-66ae7ddd2aac phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:b0f5e59e-5959-479b-861e-4cb2cfbc5fda phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:d4f95c24-8fcb-457e-b363-c90e64fa0219 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:7d9444b2-f74d-4779-97a5-06736b4d1419 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:beb6d9a0-fc35-407d-b54b-cf2ace77c3dc phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:90316a84-1584-47a6-913a-3e9f4e30d3a8 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:03feb48a-be3b-43f4-b50f-2a3291ec1f29 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:28961ba9-b72c-44b8-9e25-c1d13b08077d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cba9254c-2048-48b0-8f52-f8554c5bec32 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bd4c9fa9-85b3-412d-96c5-8599fb990274 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5573ad09-26e6-480a-abf7-6f0b1d36e7da phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b92eb871-820f-4382-b2b4-76664004c32e phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9a19031b-67e9-4e43-afa6-c9e6d7a6d560 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3a4dcd0c-db76-4f39-8be0-1289affbe1fd phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8af5fa8b-7499-4615-bcc3-0e442cff89ab phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:21106bb5-477f-40a7-9b93-c6a0f443fd87 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:57e853d2-ec21-440b-84a9-9375f37c80ac phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:729cece6-ce6c-4437-a9f7-721f64182e25 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3d17f8a0-7e8d-4873-8ee0-a4bd7763192b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a789fe47-d542-4616-bcb0-ffcb9344772a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:70f6483d-00e9-4e27-a2a0-753c0ba3b843 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:233347c0-0ad9-4b9e-a4d2-841ef4e77dc7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c2e18ba4-987e-4875-99a5-d82628df1dc2 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0fef2fb1-db01-467c-8a9d-5955ff1a588e phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b58a2ed-6862-469f-9dc7-cbeee86ca1fb phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fee42043-94d7-4c41-8cff-85c0dff35895 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a8182af4-d0db-4a4f-98f5-49f896ef6eb3 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1e13787-ff93-4f98-b8c3-2313758c7066 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:276dc043-da75-4648-87b3-96921b0e17a3 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74719bee-9948-41b0-9fd6-bfc67bcbd082 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4988419a-a7bd-4289-aebb-09739253d2d0 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1fb4707f-6f0a-4cd2-a212-1ed28c974257 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:630a9143-8aad-435f-a99e-f2d6c68c75a2 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb524491-0baf-4543-aa27-7424a89c9ea4 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd1b3753-3aaa-4e64-8665-b46e83153d36 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c82d5880-16b4-4b44-aaff-9712fb145354 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3bf9c785-8b6f-42c4-9fde-ef8b98a8464a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b5e646a3-d7a7-45d6-a9ba-639e0edea613 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a37ea800-f15b-47b3-a7dc-1e042548b217 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:efaf5051-0867-4861-9fc1-a4c5b5135d62 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aafa0756-f90e-4974-a54b-72d481b96f16 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c1bdef75-c6b8-4964-a418-96040ff51ab7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a580cef9-9ce6-45cd-a608-06a3230f0cd0 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce69d248-95bc-4192-92fb-6907182ab013 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6eea6613-1035-4764-8ee8-3a67bb69a2a4 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9dbb453-8bd8-4760-9bfc-2cdaa006fea7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a050002f-d224-4fc1-b4f1-d25bc5570d4a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b9e32077-7422-4a33-aec2-d1739bf2982c phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b71d81e0-7253-4c85-8d78-55d35b5e641e phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:95f000f1-40a8-40c6-90ab-259a03e91b51 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce6b560e-e8b6-422f-9512-c9cdbe69c498 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:77a3bfc6-a916-466b-bc3a-9924ab185b74 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6962b654-fd55-4da9-9db5-f39b368e893d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9291aa9c-a1c2-44a2-887f-06aa9686949f phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:333aec56-4382-46e6-ae6c-1127d4971b2c phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:67183d5d-a3b2-4f5e-88a2-67f6f6dce187 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7490e27a-2fb6-4507-b9a4-fbbfcc47ebe7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7a081b25-1eb1-4950-af45-0c2c223686e3 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e0d9abf-ba9a-4398-ad25-033c2df772ec phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cebe4877-fa89-40f4-b297-0dc2208afea7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aa68cab4-bfae-457f-a9aa-3c1619b74d22 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20346fd3-4cbb-45af-adbf-ca350a03266a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fce49118-3d8a-4d03-8396-718766217ef8 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2edee6bb-a462-4053-bb96-8d754c6e0e1b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29f525f5-d0a4-4c26-a4db-edb492c3cc54 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe5fb4fb-a480-4c91-9685-617448e2a89d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:35d4514d-9875-4f9a-8daf-1ea97ad5a103 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:318ca588-7682-4a27-9000-26d7d6fbe87f phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32e5e21b-bcaa-45c9-8256-d1e6da987559 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6932edc4-b12e-4bcc-9b51-4b90aef2dca8 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1fa137fc-1176-48a9-9a6f-bd4e1e681204 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ab4f34e-f437-4d04-829d-2764269df94a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cc75895a-6958-472c-af55-3a00abccf1f0 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:125d6bf7-deff-4ec1-a436-e3a438c07d30 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9293a5a1-f0be-4bc0-93c5-59fd18d24145 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:54351e33-2324-43d0-8c83-a680426c8dab phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f83e1ae7-d11e-4071-9d61-2cea684b5d77 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5a225db4-0519-4e48-9f47-dab83afd07da phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8807fcb6-6d62-4d74-a805-b27d79236e93 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c722a96-98cc-4317-91d7-9f7e7da18195 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ddd5e5bc-6a51-4910-92a0-c1b46f0924f4 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5e829bc5-e92f-4c48-9c57-e589ec64ccba phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f68da61d-f0d2-4de5-b118-947b62b7af01 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c000a8a3-fc80-4136-add2-8982d8c472bc phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70a0e524-ed3f-4aaf-9dc0-94c429bec0e4 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ae54a2b-7ba3-4639-a502-dbe9cbc86ca4 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1df6234a-1f30-430d-834a-adbc5161a084 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6d0b9c20-e3a9-4c29-88e3-b7232cd12d24 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f4276baf-1c69-4ec3-8061-7ea9227a758d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b88c02da-4dae-4dc4-8c75-a82fbbef127d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:35c88b4b-5cce-4b3b-9344-38b1d5d0f00f phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d3e645f-29db-482f-b293-553bc9a8de73 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c85fc579-dc54-4b46-b829-0006e86d6c51 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:842a3c85-2a96-4541-9731-5d617a7067cf phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9e986f80-5354-4bcc-9b86-3ab8bdcf837b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0a2ab4c5-3e62-4fe2-8eca-4b0901804caf phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:247bf54a-8e59-49c6-8c32-a1447303a2e4 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bed06500-77f8-493d-bf8b-c0e952f5dc44 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ede7a93b-033b-4fa6-b651-d75cd3c56f49 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d72e79e-f682-4989-925b-99000a0352df phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:14f05323-1890-4740-9e35-5d379078e7bc phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:634a8081-a2e1-43fc-9441-c13d71d61e39 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:29fedad1-1340-4f99-8af7-43c175dd485e phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b4d5514d-7368-406a-bab2-bddd87d9dcce phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a419487-dcce-4758-9c0a-69a1079192d1 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:01dc566d-2516-4848-b4f4-8d9cdd1f8865 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:63999228-ccb2-4ede-ab26-3a303b067608 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a3653ab-f299-49fe-8b81-acd1076c0290 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a95bb7c0-40f1-468b-84cd-cff5f3b38ed5 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ac7e0f6-03b9-4781-b678-5ac5b8e51240 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f9c4a852-0f5b-48df-a2e8-1054fc6d84b6 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32ef1cd3-b69b-4c02-8f49-b80034f3def6 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a6a617a0-404f-4c18-830c-d33b9414397f phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dfcc018b-4c7c-47a5-982f-2d915c00bbfe phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:181d9a2b-8a66-4af0-8393-e09a967e139b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3a57d47-2ceb-4b10-818e-88aa4aa249db phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:35695f93-2b99-43fc-8095-25fd795699b1 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05f84261-a1f2-4fa5-a69c-7f9879e23302 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26fb4e3e-1472-42f4-a80e-8a95ea97238a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f1f6e0e3-0d25-4fad-ab77-844b5359f92d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ab309a69-798e-4359-884e-24bf17ec7663 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:914a241c-cc17-4e28-a96a-9db3cd8ab2b5 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:431c5a51-1832-4864-a3b8-624f673c8be7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4fc66c9a-bf17-4034-bce4-05ab0219834a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f963dba-dada-4306-a993-c75120c59640 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:61449e25-563e-4ace-9c7a-4657c58820b0 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a36cce1e-d735-4f8e-bcfc-a5dff52924f5 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2dae3b52-9d10-4353-ad05-72dbd1fe7cb7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7fed9191-5836-4aeb-9e91-db35279fa121 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b24678f-e7a1-467d-8e12-bd9c2c3bc047 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d067f40c-efdf-4db0-a28b-202940d0b346 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e0b6e5c-3cd2-4e72-bf3a-3474d7e4933a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d76876e6-66e1-4509-8137-727be7a6b00d phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:48cdf06f-12b0-4c83-9b4d-341798137194 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:013c4b56-64dc-4f6a-b76d-3dff06b24f02 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c8add34-1587-4b9d-9c4f-75b287215610 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8f312628-7d46-45d4-8cfe-5d74bc69e1e3 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:132e2a72-a7e2-4dec-98e6-44bc812b5fb6 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3164679f-3e8b-4ba9-a9a4-34fdcd702068 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42a8e807-6a7a-487f-9091-00228abe9544 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ff1e053-c2f5-4974-929a-81b72543f2a5 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ce4d993e-4c6b-4b8f-bcb6-70e319887555 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e58b13fa-351d-4457-b988-987948722de2 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:edb212e2-4bc0-4e18-8f9b-284b6f3ba59b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5ee64bfb-d309-4dc3-a354-70a34375fe5b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82454ff7-fcb0-4c52-9dc9-2bd3032d079b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8d76d676-861d-4858-b7f2-b58272decf4c phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:07968af0-b6c4-4b8f-bf3e-463883796d2a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:557ca437-5633-423e-8efc-6c7d132ffe64 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ce81d5c-ccc1-4093-b4a1-3f7754516a36 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d763fff0-3262-4d61-b567-b8712ef146e1 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:897fe5d2-165d-4536-882c-2f9e28190d75 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8075ba45-d93a-4724-86e2-38381cd2dd0b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:45849c8c-8735-429d-a8dc-ace467b0e70a phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3e9e9cf0-e0db-4262-8e59-40f5b1c73269 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b54e9dd4-2b6f-4f62-806a-5858f1c7e1c9 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3541a534-9249-473d-a54b-1dd99f0e7f8b phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7e3d2c31-81de-47f4-a459-8232b35e1e90 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a62762de-1bb1-4a16-b99b-0fc61ee4fa5c phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:399d5cfe-4019-4782-8246-58fac2e24a15 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:384aaeaa-7eda-419f-bf9f-7a580c57b462 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2934aa29-5f09-47dd-b3db-7d12b1491ae9 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9a3f1a9c-df1a-4b65-802a-9569856f23de phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:84f7c1af-0699-4c40-b8b7-d8f51f9d0d16 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f67c881c-21b4-4b61-8875-61962af7a6a7 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c4e48bd6-f284-4da4-a2a5-fe002ebe3743 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c2bb223-28bf-49f8-9044-2ecc34eeb136 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:437d7b71-a7c9-4d21-b780-6a337e6f7f48 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25761050-5b9d-4951-9a52-a8c3f76579f9 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:f7d6b020-94e5-400b-85fa-114d7f881bb6 phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:bb7cfedc-a8b8-4fe5-82a4-549fd0b41afa phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3b0d7452-56f9-4e13-8abd-ba7c3ac7ffc6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3b648df8-8a2a-4786-9369-7c994f177979 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a73abc5a-37c5-4f79-94a1-f3a90ce844a1 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ed70c026-1e31-4add-9e5e-de63df159c3e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3bf4be34-fbe3-4da6-948d-d7f129701095 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:185cbce2-e0c4-4833-b3a3-ab3bcb9b9b4c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:feaa1ce0-5219-4fbf-bd8c-2ce84f6de0a5 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:9dca3d8d-1834-4883-94c5-8e2b86010ff1 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:85470347-54a0-41d0-994c-618bb2987350 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4d1b4bb7-93e2-491f-8868-30346527da98 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:86c96f3e-9892-4b4b-a8f3-937112604c33 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:2acef4a0-440b-4fb0-8c70-970fcf149b29 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:bbc54be9-6783-4dd8-b118-7fab04bfcd3e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:de60534f-e623-4019-9b37-f02b1ce2e2f5 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3762022a-90cc-4592-a385-9a427eee5e2f phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f449e83e-6ff5-43c0-ae81-f6d26f11330c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:03ef9dce-23fe-4cf7-bfa3-b033906cfc34 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:6ab6e40a-0411-4695-a6f4-76fa278af209 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f5ebe5be-3794-4d87-a015-c2ab87f0bd42 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ad1c6f09-c8da-46a6-b820-2b394fb41406 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ac76e44d-bc8d-43ab-9032-b8b6f7600310 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5031d166-1642-4af3-9a8e-f400d0adc581 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:16608058-a931-42e2-ac03-ff9681182563 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e252d006-b42f-465d-98f1-ee2580a93caf phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:eda14657-a0b1-4e95-8381-e6337ca2d7cb phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:58bef5de-eb74-477c-bca5-6bc5536c6582 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:83836930-11f4-4fac-a0e4-f5a26d718b19 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0c83ee1c-5185-4b56-a53e-e493395a057c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a6b33d88-a452-4963-a79e-336c15debb12 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1787fe3d-1a42-4ac2-b7fc-c4f08c710930 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:699a3147-dca3-426c-925e-f1cde18d2bd5 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52acf30c-f659-4986-98bd-5a4ef7e67f05 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3f36a61-a8f3-4910-a619-0a43e008f9c6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:940b6727-496e-4689-93b5-8e9acaa0f571 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b50fd594-1e7c-4c25-9cbd-98fbc080ebe1 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:456d6e0e-7cec-4596-ba8a-f56a328a314b phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:51715320-ee1f-4376-94e6-97459220df01 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87d70163-bf5f-47cd-8984-cfdd5d5e6bd0 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d04e97c2-e0ab-4413-abb3-ea7a6305da19 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6ed3984d-c479-4232-847b-413f30380043 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99bba3d7-3912-4c76-a1b1-35cfbe9a72c5 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cec162fa-a38d-4850-b1cb-8a4fcf1fa67d phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4ff9d351-baf3-4a24-b75d-fa6c0f7f5829 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1ce9dd5f-4180-4877-898f-f3bffabe0da7 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:60a53ee1-bad2-4bab-a391-5b5f83706be6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:199a3244-0432-42fa-9494-cfe1a5298362 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2a2b10c3-2f96-4d4b-b88a-3a18ab8af7e6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:88bf97fe-df74-4334-a8f2-4a191871a932 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55f2bd8f-d16f-4cd2-a44d-0fe88901b9fc phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a515dfef-bf77-4311-a6ef-3250d96f2c79 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0dd7ca73-a260-4e7f-8846-2e6828c7bacb phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd516735-88fb-4c66-b2f8-a9c0d01261d8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:abe572f4-e740-48f6-acd7-06ec503978b8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24b48cdc-4291-4fe7-a124-4fa072603880 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f03fb878-c567-45bc-ba9f-605391f57ecb phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8d1278dc-3473-4f58-bbd2-2f53679b9285 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:07487f70-3229-4aee-acfc-1c65281c9282 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:38ad2922-94dc-4827-ab05-e2917c2eae08 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5ae811ad-f6a6-4270-aa41-057dc5958219 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6e6f4e5d-1882-4e35-b5ac-8e2748ff822a phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e8cb8bfc-e443-48bd-a3cd-ab27e3766ee6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b7848ea2-54c5-4b3e-aa5d-e3e0273787dc phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be6308ba-a9dd-415f-a0e4-711a66a3314c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eedaca40-a290-43e9-8705-006f1598a205 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7bd6e632-9781-4431-b644-c74ceed390c4 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f054317a-e8ab-45b9-a57c-5d4f7697427a phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1e14b83c-94d2-4582-a6ba-9b86a7fe1c74 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf2fe0f3-23e6-497a-aa06-96b2ea48afd8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9ca7f9e-b7fd-4333-8fe3-82c7468c0683 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4635f697-ce82-48d1-9a35-acaad477b50a phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:630cbfec-9a11-436f-b4a6-cdd39904c879 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36a300b6-2fbe-446a-99bb-91c684f0ebdc phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9317ebde-8afd-4a9c-b509-9bc08ff70445 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f73f4632-750a-47ae-90ec-9ae26d4fc053 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c758f9d-c6c2-4635-bb41-f6d9d7e78b17 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:677a5138-57fb-4460-8009-9f553e53b78f phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7cf5c5a3-b4fc-4271-8063-b49bfbfb3d49 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06c9c9d6-720d-42dd-94d2-9ade2a7796ea phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66efa34d-3354-4e69-9835-91521277d162 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f069c1b4-3123-46b1-992a-3fdc6f3304bd phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:313438e0-b33d-47e8-a5c5-3b3e06ce2105 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:34030e74-9a98-4022-8638-8736ab438290 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3cd796aa-7089-4f56-bc3d-bde5bc14ca3c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86f50881-fc57-46ef-91a1-90b6c5145354 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24a12c12-0b66-4b3e-889d-7ba745e297e8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7ad67a21-27a5-4e58-845c-42fe56d327bf phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3cbf56cf-8d23-4f20-8e4e-7b02b1498303 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:458ce586-c575-4616-8f8e-a66107be5260 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:47c2941a-83c3-4a0b-9124-3852129ef940 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6c656f4-25bd-496b-b573-68eb4484a150 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3fb5af22-40f7-4815-8031-9215a5d19177 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f57392be-d2aa-4765-bbd5-f9b084c748d5 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:310259e1-b9a6-48fe-8052-6dbd8a976df8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7061959c-8366-400d-863a-f067d85a033e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a0578c57-b175-4c0f-a60f-8c21c534dc1f phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b4beb0e-0084-410c-8564-df9cadb8bf76 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1812d1a6-bd16-491c-9d63-88976f38be7e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:08fa23ef-c6b6-4ece-b5ca-d890040f793b phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:24d8a641-8951-410f-adb0-abf18d75049d phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dafcfcdf-4707-4ee2-86a6-c983b9675b13 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99f9b721-04fe-4d84-b936-ed97f5e8ab5e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2084945c-e106-4840-b546-850e0e8b9580 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:196a8bbd-4c33-4a5e-948e-d476924fb7e1 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fd8ec475-71d6-4721-90e6-e2470b7d0287 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c90b098e-1deb-423e-8c57-1d84d14c089b phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b93dea5-76d0-420b-93ba-d5fbacb79501 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ef1a9252-e03e-41f8-96d5-c700557c0d3d phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:12432cea-3047-4944-b8f4-76b0ae7e4c5d phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:35cfe00c-9719-462a-a8bd-e246123d9914 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ef36df7a-16ec-4de1-a126-7fe5dfe23707 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e4d3521e-4b6d-437c-b44a-2419c4a3a073 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a31981bb-aced-4711-8eb5-a5cac04bf139 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9e8dfef6-5a6c-44db-af96-a44a7937d840 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8ac55317-07ed-43b7-bc90-0d2271c6bd02 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bd6f2714-30e5-46c7-830f-11c5d0c5b219 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7485268f-1605-443c-a7bb-2cc7055aab2c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3eee5490-9c7e-48c4-9914-f90fcbbc9390 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e50d371b-b1a9-43ae-bbfb-9dc1e5e0d956 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4088db63-3cef-4969-a91e-69ad55e7af4e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75902786-145c-4aca-8789-f063eac995c7 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0eb5f663-4f5d-4860-9003-571b59ef4036 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0533f860-d343-4118-8c9f-7aebb3f9e7e6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:48f4c494-ff36-446c-b497-870125d09745 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c8df52df-ad7d-462c-972f-95dffb709981 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f2ab429b-a0d0-4037-a360-077ffd0780ee phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:27eae136-5a18-42f7-9cf2-c1dfdad04d0b phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e153f7ad-fc9b-45a1-8941-a60af31f90b6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de55a90c-3971-4647-bf89-ec9aa7d88584 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9732a74-fbeb-4e94-9ac9-39f5f9bb1032 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9d12d768-9388-4cc9-90b6-040ed0c94d46 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74b0a9e6-314b-45fe-a24e-2d429b25eb18 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f3baf2d1-9693-48f9-848c-db8845d14626 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:85d432a3-6d27-4863-b383-fb33eacf907a phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f63f6878-291e-4338-952d-2e0711b3ad28 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:233e2406-1709-4a17-ab31-16e17942b6fa phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c83d0fb7-aa9d-48d8-b466-4be4e0029a07 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b67aa42-14b6-4082-bf3e-7d107ad48270 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a3f7d9d6-be27-4f65-9de2-6df4ab7ba2a8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c00bedab-80d4-4c69-a52c-f8106c043363 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05dfc169-d556-4f99-86fd-815efd4057fa phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fbb52974-5848-4099-89d7-ece89c6cb38a phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ef674cd4-3459-4a27-97ca-79866d4682a4 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a2610dde-cf24-4f8d-baa2-3e223b437ed2 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5aa3318-1125-4ed9-8566-0119337d77c8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75510a0d-5427-4570-8cd2-638120ff6b2f phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:76ae87ff-05f8-4eac-b531-03d8c312470b phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:72f9a36b-f3de-4405-826b-cacef7004f20 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:20497115-b0f4-4abd-876f-3d2b97546571 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a76308a0-7d82-41d7-a577-3c371a4ecd99 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:43125744-0b26-4864-a1a0-8c49c9c63137 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:97e540cd-f6c4-4039-95da-f91b1a2bd98c phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9284091-41d6-4d47-8c6e-20fe3feaeac5 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b689d5f-c22d-4a22-8b39-9c3a438de330 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36d77ef5-365d-4e23-b0cb-1d67c7f995dd phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:08718f5e-de0f-4704-b167-a1af6c944ffb phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ffab8937-679a-4718-baad-7f4e110f174d phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6cbcea57-d8bf-433e-82b3-8ff1388d7eed phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d629c0fe-f69f-47ba-b17d-a5e9a0102065 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:301d08f0-01b9-457a-a622-43cfbfa1f31e phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:08569a93-76f6-4de4-90eb-6753c18e3204 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d6d4e74d-a6c1-4c1d-b850-fbddfb5f6071 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b56f81a0-92eb-4838-8f8c-ad16cb055639 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0e472a9c-ec37-4fc4-954a-5a3f7058b1b1 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:badfd444-1b43-4475-884f-e60afdfb2923 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d4a2d309-c48a-498a-8aa1-6cb8b9acb519 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8901ae70-e6be-4052-9a23-1b3a7cfc85a2 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:21f48a91-9b59-4337-85b0-1472140d50f2 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:021da553-d6de-4dc6-9621-6611ddeacbd8 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b8e99801-60b4-448b-a24e-1ceb8a8beea6 phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:4404f846-e610-4b93-b58a-769e7206a6fa phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:896768b1-37c6-4f1b-8b64-536b049fcf90 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:fad0991b-939f-4217-9912-93acfed3a530 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000639 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3bfc7709-6d03-44db-b435-d7db760a52d5 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:445b86ee-f075-4e38-adbc-7ca5c01e14a9 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:527bdeae-6d07-478d-8561-7ecb77692696 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:71818645-cd92-4988-9af6-3fb113f46b80 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:807d0538-cbcc-40e6-bd28-d2dc2a1f5e8b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:814fa17b-90b7-4653-b87b-c0dc2ea6a5ab phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:0001c284-e34e-4e49-9aa8-3f2aa14734bf phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a36c58a5-89fa-46cb-8a86-d61a6a97abf4 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:4113cd0a-2dbc-4b58-a11d-5f75f71affc0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:25d13b42-dc50-48ac-9fe3-e538b82c9bb2 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8dc782bc-1220-4192-b180-3cd34478378a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b76d0fd2-e817-4ba9-9331-f6737ecd667a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cb5fb7d9-be67-410c-98a2-42f347762dad phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:37be0a5f-2689-4c0a-9011-690e02471288 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:be602028-4c39-45e4-8e42-bae9cb83ee76 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cc8d51cf-8311-436d-b5dc-e86720eadcb8 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b746aac5-ad90-4eb2-b6b0-ad0a58b6e0be phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:427c3b8a-33f0-461f-913b-289a67e1d505 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b229209e-a395-4f08-b59f-2f955f74cc71 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:a47c3a84-1821-4253-9cf4-88b6da015924 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be7629eb-07d7-46d4-b230-c12ed605ffe0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:243d852d-2d74-47d2-92fb-a6a475877603 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:75a995ae-c639-4456-b9e8-82ce39c05ab1 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0884b9c6-b84f-409f-ae37-3fd417f36ebf phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f51c7494-18b5-4053-98cc-c1bea58d55a4 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4f63bb0a-fb65-4a7a-befc-d2cdb61de442 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ff7e61bd-fe96-4700-bd98-01608fb9b421 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:292f5439-f083-4582-82e3-779a29c4eee4 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70b7eefd-068d-4a28-90a9-4a683f29366a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4a05742a-fc45-45f7-8bdd-0e66d63dad73 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66d1860a-90bf-4461-b947-5ca8e851840d phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2d02e3d0-3087-4bea-a446-769fa3e40005 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:18e02b3c-cc5b-4d59-9d0e-92b563d4e2b7 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:397f607c-e3b3-4222-9473-410dd6e73f60 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1c61c587-5487-41e5-b435-c02377c6209f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0c21d4e-b4b3-47a0-b58a-d096e5a87db1 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:aa0aff16-d975-4458-8378-354ddeefe488 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c23bc26-d1f0-40aa-b6e1-8655a65a405a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5cb3e198-89e5-4f73-be5b-a8bbb20117da phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d52359c1-fc6b-4622-bc8e-fc85ec79f92b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2273eed0-4104-4b2b-ba90-48e7e8109b36 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4adc2344-9964-4044-8b72-ffbf2cfc4e41 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2305a66e-c20f-4316-8dc2-64a16137bb1e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0bb4756-89a2-4d1b-bebb-07aaba181d65 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d9a670d8-3c7e-42eb-a1da-5fac19d7581b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d690b4be-0fca-47c5-8147-b90e5a365dc2 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1ed11e68-9559-469f-8377-eb9be023cda5 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a135ca9d-1724-424c-abea-e55ff6eea51d phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:df2a7d5b-5a6e-4a9e-960a-276c4431ade0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:acc2eeaa-c800-47b3-9d29-b9ee5482c6d5 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:59d64bc1-4006-4c32-808c-125e6caa96c8 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b1a6ef38-d8fb-4b26-aeec-ae15ba58216f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e9db886-5ca3-4853-b130-f8d46dbbd31b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d5de42c0-95e7-45ba-b1a8-799db4de882b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c34f73b9-d828-4f53-9e1e-77938b5388ba phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5324b957-ced8-4cbd-9ec9-9f0b874f2193 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e186d083-29e0-4b09-ba1b-f3c04dbe1b3a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:39ce6dd7-4684-4c88-a158-32f39091789e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a5e85ef2-4b09-468c-9efe-295f5195d1ad phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d0c28c2-d109-4e3e-9885-6d04eab126f0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3a4dc9ef-b667-4b8f-bdf7-60f7563ba615 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3dd73282-188b-4e4e-b405-31f2773c1b19 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a204951c-0ea1-4013-80f4-03ee9a19e701 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:affeff11-769a-488c-8585-b9cb274db25f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32c423ee-6d52-4b83-90e7-7f305b3eb969 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:180cdfe1-ede5-4def-b75e-b60099d96889 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:991e73f0-f320-41d8-af3c-a1245639c746 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0b377e47-8dcc-4380-be42-793bcd931c91 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4cbe77a2-0bff-419b-be61-a541c269cc0f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dc630f8a-2b56-4e9a-9168-b7f0411e2fca phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:52ff078c-7f21-4bba-91af-51464dcec0b4 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7673e4de-c61e-4a76-b105-13f2398f2497 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:90669c36-2ef1-49e7-ac7a-9454253f4b86 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6aad54e8-c37d-4787-9c3a-382ab1269644 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1ba54aa6-800a-4da3-b492-06d5f83c2b23 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f5c4a952-33d0-4bca-9059-09786097c8ae phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e2fd64b-605c-4b2c-b677-652df5a6e813 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d011e395-cc51-4d4d-be2a-4b21c2986b0f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:245216db-699f-4bb3-9533-02a73249dbba phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6fc4eea2-db59-4c8f-8ef9-981622802e4e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8427cc81-92f3-4362-9b9d-145697bb3cb8 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cbe78677-cc9f-488d-9e4d-90882028d713 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:11205dcb-4571-4f6c-b8f4-89c2b8143278 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf5ac814-8a72-40f3-8010-25625274e649 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be7e327c-5d08-4600-adfb-7fe3d12ea251 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4be0e13c-c76b-46d1-8f8c-bb380167ae57 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:acb90740-6013-4c97-a9be-b05cad2abf0c phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3899639f-e9d6-4b87-9cd7-3d955ccc40d1 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:03d75619-1a79-46f2-814e-794447c9daba phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bef68d26-5d6b-495c-89c7-c3c3dadc32c1 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:38b7bc9e-6094-4341-8435-eeaa81a1e30c phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:99c126d8-4f68-4b7b-951c-15c954a5faa3 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:423c4b2f-2fd5-4fc1-a0b6-111ee522277c phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1127d3ee-d0a0-4301-9a8b-a745d5536554 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:272561f3-407d-421f-858b-7abd383bdd4a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c40fdd1-05d8-4381-bfde-b6dd1d14a731 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:565205ab-3334-49de-a093-aa2c02f366cc phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:730f252f-b434-49bd-94e9-bc821f71c4c0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0bb5a554-7a51-41bc-9e84-4a6d554a82a8 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c8db3e06-821d-4724-a984-29b86c106b72 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:85f7211b-15ef-482a-a65d-d3d6e3d2c9a2 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fb049899-9c25-4484-ba91-d5498cd0e286 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b38c8bb2-b1e8-4440-8896-dd4b32c6e0bf phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c403aa9f-64c1-411d-8208-76d4e374bfc9 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:509db2cc-e2a0-45be-a43e-dd4e62897398 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6c830f18-48be-46c3-9721-f02358619daa phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f64f6a80-4fbf-42be-96d0-01dca4da6dde phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:af389bde-5f68-4ba9-8b27-b6fd0c2b4a2b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d0a1b7d8-743d-4ebc-82d8-57ea3afa795a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e90577a6-f006-4d0b-87d9-f1adbd216e10 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c7eedac3-87b5-45bd-9658-867e82f1a839 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:25082e4f-403f-4440-8f26-08b47800cd33 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b4461e38-3b0c-4726-9240-5855de7ff62a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:69ce46f9-f1d8-40be-8ff7-36d2e90632c3 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:826168b2-4774-4191-bb94-1a38ed20ee45 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:948d8049-810b-49cd-87fa-db0f15f1877f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c5f20c7-3676-4b6a-b488-56c8f77971d7 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3708bfd3-2ccb-4cb2-a8fc-2db03dc76f89 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:54ffb678-00a3-4c95-97e3-95d2f645340a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f7b25856-af6c-43ed-9ac8-7e3d048c4a26 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:043c4dfd-4bb8-44b3-86a3-34ce52bb0558 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:db68dda3-a553-44e0-bffb-ee89ee070ed0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98318135-fdc8-4ed8-a047-c9ca1713bd30 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:16fc0543-e228-412f-aee3-62f588dabcaf phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71950925-f6e4-4046-9589-9a456953b9ad phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cf9b2008-9e88-4daf-87b3-d625cdd9e84c phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3484a858-9dc5-4550-b3b5-4786ac438d62 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:43c72d6c-6954-4df0-9acd-39437187002d phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:68d0fd77-17cc-4d6c-bab0-44b42888698a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4d1283ee-403a-407c-b7d1-0124cc53c18d phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:731c3821-f37b-4cc9-a75d-8417dd59cdc1 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:70c45d58-41d7-4b59-8e0b-41c9b5fe2954 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9ab5998b-7452-42f5-a271-6163fb03a642 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6861d9ae-e1fa-4dd2-a684-00e688486303 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fe04bc5f-6639-4572-ab16-cfbececbf162 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d2c6017-89bc-4728-ac66-107111ab6f21 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1c6a0eb7-0021-4494-99d9-2a97d69da4ff phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:42037277-84f3-4583-a5de-6d9e70176e45 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:adf138b2-e956-47ec-a80a-4d1c4064b30a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b4a81929-d7ce-40dd-9b00-4eff92bae80a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:107722c0-d296-4506-aeb9-251048c7d591 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c7d5a9c-2082-4aa7-97dd-de46363f56e3 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a525249-f8a6-4167-91b9-7706183fabf5 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:86ab656d-59ba-4640-a93c-4efb79cef910 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1544285a-9a86-410b-92fb-24272e41bf4f phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:33367a5b-8325-4499-b6de-af06ab501e55 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:374c0b8a-e298-4d39-ba74-77cba27435d8 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3246c46d-c9da-43ce-bcc7-b214ff034a71 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6441f204-cd3c-40a1-a3ea-a6ebc656f62a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f271638f-2a6e-43b3-a220-589233e9f672 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bd8eccd3-3fe8-437a-9992-3555cb4fca2b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9717aa3-dde1-4dff-8c71-0c03d68c601b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8e414d3c-df33-4e34-987a-838529acd26e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:83642b6d-8a67-4472-9f0f-a4584d5a43df phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:54409a4a-db83-4ddf-b36d-ae12240a9fe0 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6647ff0b-b546-49fe-bb85-1b8370705048 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4a7b9dfe-0ae1-435d-88ee-e59bebf957d9 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0e94023a-8b5c-4911-9cdc-f9bd5666914e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b3709653-0708-449b-8e18-08818fc90a91 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:44d00a6b-9709-43a1-acbd-2c2c03cffadb phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:74acd7eb-e91f-406f-a293-4770c8edd34d phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6000a32d-0f75-4bb8-84d8-174ff286ee58 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:466f1e44-6901-47e8-9722-98abf0488a9e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c55ba60b-63f2-45bb-a69f-3a1774dcf3d4 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b0b6affb-22e6-4e68-8410-b651bb8f6648 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3260fb43-259b-4420-95da-4cb089730f3b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80980abe-9bc6-4c03-adba-f326883baf0b phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:297eac66-a92e-4125-972d-c1ca55ba2f4e phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1e462cb5-23ab-403a-9036-c88fb5b5032a phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d722b461-421a-4ac7-aad3-ac7639e9aa33 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:684a1189-63ca-4be8-857e-296e99c30dd2 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0c60f3e6-1563-448b-8027-8eb5707997eb phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06faae94-40df-4a3e-a05d-e294ab13b6b1 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8db514d2-0dbb-4ec4-8c2f-14329487a702 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32942fa3-9583-45e9-ab39-dc0af133cd32 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:2af77207-ab8e-4eb7-b2af-1250c1027a34 phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:7b4109b1-2fa8-4bd6-ae29-9ea6bdc79d97 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001622 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:ca3dea97-3b87-453c-bfd3-78209a7e51f9 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0006934 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:5d2e90d5-a6f7-46c7-90e4-650a323bd74e phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0031936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f7a6f3b5-b6d9-4cda-9af3-ecf6077742e1 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0010862 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:042a7d46-cb6a-4a64-acc6-0b68346d85db phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:b50cad53-dad2-4c1a-9249-ad87c9af7112 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:dad95b05-c2c7-49f6-bb53-5cad60f58b1f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000023 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:191571d5-8d06-48d5-addd-c31e96b7f66b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:23428b1c-48bb-4c7a-af58-03d8882b7849 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:e6ced2e4-08c0-4c94-8508-5e5477caee0c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011599 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:483babdf-f0cf-4ce3-ba5c-a0c3171a3d87 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:16f2c1dd-332b-4bb0-b4ea-253735fe0000 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:cc11ce5b-fe2d-4d42-b717-a76f9d990c81 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:8de56ab2-1583-4aa8-938e-11d8510b17a7 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:3ca88ea8-789b-4b7e-a70f-b111ac8101de phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:f456d4f7-b7b3-4697-ad9f-2460bd05b2ed phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:31a56e51-c985-46cd-ab5a-3309e68d26c2 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:caf1e8b0-6553-4a0b-a10b-9be4fa578cf5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0009765 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:dbbae3c2-776b-4450-b36c-dae1adcb0e54 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:1a852b3f-076b-49c2-ae77-ed3ff2888c90 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000262 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:155be7d7-4aa2-46f0-b98e-9f3026d09ebc phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0100259 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:38325380 uuid:804fb42a-87f7-40a9-97e1-bd6d417daa15 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000843 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8d6aaab5-f9c1-490b-8a2b-376d35fb78e3 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002897 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:806f745c-d02d-4ab5-a6f0-fc379cb4ce31 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000995 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:61e4345e-7c86-4c73-bd47-bb907ad3d81a phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000957 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:083efb2a-867f-4795-a728-9ebe898b8281 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002013 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:34359a40-3c8c-4e63-b3d2-bf733e804e1f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002033 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1c44f4a5-c787-4738-b656-301c73351883 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002578 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:595355be-745d-413c-8782-54035621c520 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002035 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a9f9e5f5-7fda-439f-9c3e-f16a79f83503 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0100633 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:368c32ab-eec6-4e69-9e59-49847619a1a4 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002021 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8754a8b9-f5cb-44f8-93e5-71782e074095 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002015 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:50765199-631d-4aa2-bd71-ef7616c6e473 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000823 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a8231ac6-90ff-4e69-a9f8-57c5b70fba9f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001561 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:46c971d7-7058-4131-b154-a3b4446db031 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001562 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:97c3c87c-007c-4f62-b618-ca3a3511a378 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64465474-1d50-44a2-acb6-6bda9e7355f4 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011410 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:cc270121-f7e8-4e00-b832-ea7dacb54646 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000405 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e93787ef-3e19-48dd-94f4-834bf941880b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000407 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:263bc09c-cfca-4a6f-8f22-11a1e3f0cbcd phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:209dc6f0-98ba-4a65-bc5c-263bf49f58c5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6b0271e5-78d5-47bb-892b-c703bcde25d0 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000540 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6a9f0486-6c7c-4e7e-ad2b-40e4c44a8565 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000541 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f871ab1f-8b89-4cdc-a7df-ca0f84334681 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000483 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d5c1fcf1-032e-47b9-9c1f-5dab8062230c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2fb9404f-c1eb-4144-9944-19766fdf0723 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0025592 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c0bdee17-9e03-40fc-bed0-c90540752a71 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:494dd6d5-8ca9-49a8-a385-bfa31420060f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0007443 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7533fe72-749a-40b1-96b0-448c3cfbea8e phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000648 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:63a0b09f-aac8-45ea-8b6f-e21f3d931ae1 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001097 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7247aadb-a5c8-42fe-bc3b-56d94b56e91a phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fca0763a-69d9-4468-90bb-439d81867188 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011003 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:dd2d68fd-a4c9-4e25-8dd8-00bb38def5e0 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000646 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f6a7244f-d035-4447-813f-2ba03476822f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c3de7410-6adb-4caa-aadc-738f2a660d24 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:947dafdb-885d-4b37-beaf-6d6d8afc8318 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000717 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5804a404-3cbf-41ee-ab14-0f5e51d1e0e8 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000739 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5b4fadb6-8c21-4db5-8e8d-bbc8df821641 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000713 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4e135a25-7a7d-43f2-80f3-9b36035f5106 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000718 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb141643-d430-44af-8c44-5a81d4c0e701 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002591 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:adccabf6-7b1b-42fa-86ab-cc209080e35f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0004305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:09b76b04-8289-4c72-92fd-48b0c933f77d phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003763 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66559906-36a1-4141-b13a-933688862cc7 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000716 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2e26ad15-ab08-41b5-a623-910853c1d311 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000744 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:55e7d30d-3d1b-4a57-9cd6-7904590a9da8 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0031473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:244c4e14-173a-465f-b92c-95e9108e3b7f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:689d76eb-1c0a-462e-ba60-8a43dafa35d5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001537 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7c1e2ef2-8344-4155-9b5c-57bb926d0ec1 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d2859e75-e299-43da-9ca5-faec44fc29b9 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0010864 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7bb03ea2-8db1-4f78-a152-bd1f8a569791 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1e3558d5-b1ea-4e25-98bf-fb1813ceaa28 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a70e734b-1e5a-46d5-babe-a5fd51cb543e phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000158 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d56e9e07-64d2-4b7b-a78a-efea255b45b6 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0025267 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f0719169-712e-430f-9a23-2de79446d25b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001680 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a457de8e-b07a-4391-9512-6ae3cc6b57be phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5fb9c695-9338-495f-8698-5385eb3cbf66 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:082c1882-4fbf-4091-a9af-8f6d43291640 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002616 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5abedd0b-e4ce-4544-ba41-b67880483897 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c7ecbcba-15e7-43ca-adaa-e1c9585fd02c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001631 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:96632238-83a3-4242-abfd-44e9e967194c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7655afb8-34f9-4f9a-928c-2005ee731498 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000787 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9c64a3f1-ab8d-4228-84ff-28227ece2fa5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bc3f7d93-fccf-4250-8abe-50cdc17cf491 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6eec2cf5-daa7-4755-8a2a-aa2225bed6ce phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0004482 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:972030a8-2b4a-40b5-9733-b3ea8e775ee6 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:6001070 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7f04088c-5964-4602-bdfa-8d5f41f6bdf7 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0100309 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6acfd7f4-edd3-42a4-8c77-2a7fe5ce2896 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002188 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d678815-805d-400f-8b4a-9792743d752e phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0006970 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6202ee52-19a6-4ea3-9cdf-c5d8a02377c2 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:32bbe3ee-c529-410d-991a-949cf83d366f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002138 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d006dd8f-e45a-46c6-8d97-a5637f6f3625 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a719fe1a-63fa-463e-b621-7c48730a1ee1 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f8d986ed-d645-41c0-ad40-c6d3616686e2 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ea647d02-66a0-4189-958e-039cb80cc5cf phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e5c6d017-7927-41e8-8b6b-eea155d2e3fa phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003416 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e541b9b6-d8d5-4361-bd82-09c796af4fda phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0012506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3ad0d3a9-d61c-434e-9796-ac63ec1f4188 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000044 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8520dccf-13db-4b9a-9a80-d9e82bd08bd0 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000821 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:82ec20ea-8aaa-433f-92f7-822c3839b95b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000938 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:26b2db44-a734-49df-91ea-7c70eff4edf3 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003072 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:239a3be0-1ada-4ebb-b392-38a4ac338094 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bc2470ad-20d1-4bb4-aab3-5a32e2cc2a48 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0012028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:79486d62-f605-443c-8ea7-a0d04de5d94d phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0010722 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7890aff0-17d0-4f47-b710-3bc392807a10 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000396 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f8362282-8c56-4c08-b9cd-d2d57f3e6fce phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6728cf18-2559-4e3a-8b9f-70fcb2db79aa phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0009748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:d84b784f-7473-497e-a18f-bdca45a336e8 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000400 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9c6ea8b9-ecf4-4612-8425-fef8c958e9bb phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001057 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ddf51496-7e19-4f46-b479-83b7cfff9a87 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000358 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c67fd981-b272-482e-b3c8-958014666b97 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:190abb60-3bb1-4ff7-a46d-8edf4e01ae06 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000391 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:06a75201-4bae-4c93-a881-685cf6226ab9 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b84875c-4393-4ad0-b9f3-ff6b9ec9c2bc phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000656 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:53a975d5-4703-4ca1-8e5b-fa4750899f34 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0f6d7f32-8a48-424a-afae-42b0a59a4a83 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a6789898-31e4-43c7-8748-120659c5fc5a phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000581 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:13b24bb0-1f21-4c16-94e3-5ce0e7da1c49 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2efaa573-1e01-4774-8cba-bb8c2ba0e341 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:de3162dc-971d-4f29-86d9-81294e376cf8 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fa373ec1-5dfa-402f-9249-42a429928e66 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb0cc27c-9f30-48e3-aa0d-624aa67eb625 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000307 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64380be6-004a-44e8-8ff0-a97560429965 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b79a5f8c-cb15-494d-8eac-efd4f97c81a5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000275 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:51a4710c-ac0e-4677-9330-9520ad68c278 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:eb9cb87f-ca7b-40b7-8ad0-02dee3b6ee1b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f4299be0-8ef0-4723-8716-8727c6670018 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002007 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:680982b4-6e54-4fec-8165-723d0178c47a phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000341 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e295b465-a87c-419f-9e2f-db8f0f0a3326 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000337 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3890f7dc-dd51-421b-9bf0-b2b14ce95564 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b74cf9c1-d8c1-42cd-b46b-200a229b2994 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c2184ad4-aa2c-469e-bc2f-69b78f45e86b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:66684fe5-c346-49f5-9f32-ccf45f3d2143 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be70a2de-47ce-4f6b-9c79-d7dde144da64 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:536fd21e-240a-4e5b-aa4d-6a52c05779bb phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000154 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bf6126a6-dfa1-492c-971e-274831085c4a phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5ecde1e3-c052-481f-994e-ecfc91fcf3c4 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000218 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9c0b5165-fe45-4a3c-9eb4-6a2bff8d0ae8 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:87f78f80-1b20-41f4-ac2b-4f6276b285e5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:077026c1-12c0-4ac0-be6c-dc3b2fad4b2a phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000448 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:36244827-5c3e-407b-902a-0e71b06cfb05 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0009931 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2dbafd87-65f1-4b27-9712-896f74a449d4 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:506a348c-736a-4fea-a1f1-28b77adf47cc phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002213 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:c6ba79db-8491-4a92-a2b6-1c1b4299ad5c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:415b00bb-39ad-44f7-8b15-9ddeff3df312 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:118cb642-6355-4ede-b1ab-d3710bea01cb phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011231 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:13b3d066-c8bd-4d99-b666-1efcf8381886 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0100874 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4b712aee-1597-4c99-a5e3-de6a52e05b3e phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002162 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:041378df-036f-4f6a-a5e4-de0f93604b6f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:6d51ac10-641b-4023-837c-74601433684c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000294 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:80112560-1d9b-4fee-adcb-7b6860be66fa phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011229 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:277ebad8-361d-40d5-a419-5e32ee1e77e2 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:be54db46-e88e-444e-8eb2-ce04875e21ee phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:8295055e-fd84-49fa-a6f4-4ff2f14aefeb phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000475 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:81298e14-d628-4363-b55f-1253a2d6e808 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000260 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:680e0530-5bdf-4a9f-90b4-2f2cc15b4e4b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001476 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:1be09127-0bc8-46b4-a720-c0a3a0adea81 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001217 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:64c8a16d-3bf5-4414-a012-393c9eae7ae4 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000767 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b2d7bcb5-a1dc-4d8a-b2c6-852b3ccdad14 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0030031 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ae61cfbe-ff62-4004-bbe7-82c6019270d5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000926 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:2b69fe30-886e-4d3d-a5a6-8364c0286002 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0002943 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:bf522daf-3de5-46de-b86d-d5294c95625c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:b06f2d8a-ee0f-43bb-94ce-a1c3b40a0047 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0006101 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9c2c3d45-6d56-4f2f-b960-111bb8e4ca07 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9b0784c3-349a-4beb-8e65-efb6baa4953d phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0006191 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:16f913c7-0ff4-4444-b378-fa54d5a522ce phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0008455 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:732f2059-0f86-4f24-902f-689ecb25a1ed phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003301 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5eabfcb1-1ab7-49a3-b020-47aa1ba998f2 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001773 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:7b8827c5-b9fa-492f-a4b3-32897c17460b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001176 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:12946d6c-e47b-4b43-9785-150009bc286c phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003304 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:f6b8fab9-3add-4287-bd93-13d1e3eb00f0 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001814 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19de07b3-2913-4202-8910-28fea99d87db phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:0d05942b-9771-4f6d-a333-51a8c592e0a0 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001845 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:ba4d01b7-fb84-4202-8ec3-14c6a93b82dd phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000768 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:945ee7a5-0df6-4d02-87be-da6a90e1e148 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0030084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:98eb43bc-eeef-40ef-ac16-8ab08db8a949 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001822 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e6d0a9cc-4fba-4f25-baa3-8051073f501d phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001831 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:e1a4f740-a61f-4bf7-abde-6a78c7d930b5 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001792 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a1cbc09c-6d6f-47d0-9f8e-d412d5b8f7d9 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001187 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:9e608eee-542f-439f-bf4e-94d6f793d1d4 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0012532 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:3d40c6a1-8092-4bff-b17a-19fece6932a1 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001373 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:597290bc-fc17-4717-a1e7-1535b718353b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0001182 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a21cd2b7-5488-4456-a3d2-f9f58c89619b phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0003302 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:71742b91-039d-432e-b4ef-6a7f24d0605f phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0011069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5231ba96-51bd-4354-b759-4f9724d675f1 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000678 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:19318258-673e-466a-a7d3-feb732ff9995 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000201 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:05ac9114-1194-4a49-bb62-f467064a3457 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000684 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:4c51a0e2-6431-4b04-a26a-56e7956bfa64 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0006335 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:645a323a-63a3-4fe0-a7d0-348bf1d015fb phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:5404fee9-7999-45f6-a347-d658883e363e phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0000691 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:fdcdda1d-30a7-454c-a69c-ce2e56fce0fb phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_phenotype HP:0010808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:38325380 uuid:a36be751-c893-490a-ab22-f03025247d77 phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_disease OMIM:301118 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:a8edec73-9f31-484c-8f79-ab9688997dcf phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:has_gene HGNC:12869 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:38325380 uuid:9916fd53-67a5-404e-9afc-5aa5be6ae9d9 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30855487 uuid:2edbaa2c-bb58-4e1c-8fb3-039878a32271 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30855487 uuid:866c8ab0-6c89-4540-bb86-b9d126bd1b3b phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0001272 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30855487 uuid:5749ee0f-4c87-428d-a8cc-be226f95d7e0 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0100702 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30855487 uuid:9ae731e1-b4fc-4a0b-adae-b824f1d0180a phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30855487 uuid:4aa97ec6-925a-4547-97b6-23b7b904fedb phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0001347 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30855487 uuid:dc23b018-d3aa-404b-85b5-63ea024a0ba6 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0032549 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P9M infores:phenopacket-store PMID:30855487 uuid:58219be0-932e-45c4-a3f6-107aa1eceda0 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_phenotype HP:0000238 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:30855487 uuid:50322e2e-b229-4c0e-bc50-7114392766c4 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_disease OMIM:609637 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:30855487 uuid:6945b5f5-0c77-4df4-9abb-be0f25d10495 phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:has_gene HGNC:12873 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:30855487 uuid:9b3207e5-0549-4a93-990e-71871b2a2a9b phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_phenotype HP:0002507 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479728 uuid:df290a21-f303-48ee-8391-8cea805327da phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479728 uuid:f7c24c69-a6a2-44f0-9df2-09b09ab3cbbe phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479728 uuid:4fd7a19c-bee8-4f12-becb-fba1d5b74988 phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_phenotype HP:0000520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479728 uuid:cc054596-4a80-4577-b77b-de9cb88c2efe phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_phenotype HP:0012385 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:11479728 uuid:ffe32ab2-06de-4739-86c2-3f4e68667d8e phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_disease OMIM:609637 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:11479728 uuid:bc542460-9fb7-4d50-a0b6-c2b60ba652f0 phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:has_gene HGNC:12873 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:11479728 uuid:3523a6f7-6e83-4eea-b3f1-52467995b54f phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_phenotype HP:0001748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:e5a944a7-3da0-4c34-879d-c2394e3c4682 phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:c8db7ebc-47e6-4169-8d6c-e31b10439d4c phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:0c035143-404b-427c-8187-45ae99955bf0 phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:d453ad4b-c8bf-4666-9c30-5c3e27a80c65 phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_phenotype HP:0001750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17295247 uuid:d4cbab1a-3851-4189-b59e-cf599deb2e6c phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17295247 uuid:b85ef58c-5e48-4165-a0b5-86427f5535a4 phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_disease OMIM:306955 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17295247 uuid:4818887d-ed4c-4055-85f6-44f4506545f3 phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:has_gene HGNC:12874 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17295247 uuid:95174c18-384b-431e-b72e-8f8699ac5d23 phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_phenotype HP:0001750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:f374762d-2da9-489e-888a-ceb63746718f phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_phenotype HP:0001748 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:6a21433e-434f-4b87-946e-beffc8642ce7 phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_phenotype HP:0031348 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:c6317289-a1db-4896-821e-bd49722042c3 phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_phenotype HP:0010882 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:17295247 uuid:35b5383c-9c63-4e17-b991-d6ee058a1c09 phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_phenotype HP:0001746 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17295247 uuid:443e1db2-e957-4786-99f8-9a0c5e65c4ea phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_phenotype HP:0011560 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:17295247 uuid:d36f7fcb-18d7-4b15-978c-9fd699365aee phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_disease OMIM:306955 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:17295247 uuid:c088783b-a1ea-4a01-8827-5d53fbb176fd phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:has_gene HGNC:12874 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:17295247 uuid:8f0d4a91-ffd8-4b84-b1cb-4ab0aaeacf5d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e40c8145-532b-4730-b4e9-340ab1ee597d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0de88a5f-1c5f-4402-b3d4-d7f1061cc084 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9c48ef2d-f127-4a51-96eb-63c63f00aaf1 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:bcdd5185-bbe5-4924-bbcb-63d2d94abd7d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:31060604-7994-4b95-ae46-d73fa5c538e0 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f871aa00-ca10-420e-862a-36c48d92637f phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:762fa357-d5b3-405c-a322-7cfe1933b5da phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4fefbce3-6428-4ec3-9e1a-ad923843a7ba phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:1cec09c5-ba61-459a-8948-9a5a7a7e621c phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e9cab9ca-578d-4b06-b4db-fc1b99204646 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:93128061-9e1a-4ed0-a1f1-71d63d51747b phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:467c25c4-b1b3-432f-a714-a3423d55c256 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:81ec125c-2507-42e8-841a-73bcbeed214b phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f27d7637-7bff-4a02-a05d-845b833c488d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b1ce6dc1-8008-42fb-8735-e0c945fe64f5 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3eb9e467-97da-4ccf-be11-aef87cc318b2 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fd8afbb2-6cfe-43f4-a5ee-cccd17521cda phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b9cee3fa-bfdc-40dc-9a69-908bfb5882cf phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ab94fd82-077e-46e1-9c8a-edb6daa1dfbd phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:37d48262-f7e9-4cdd-a9b7-4d94369188de phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:60a311d2-8078-44c9-86df-a73d0f21f2e8 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bdcedb9b-ea1a-4608-b186-accbe80b98be phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b9373a27-4b1b-4f48-81d0-3aacac87b4da phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8902cf40-a48c-4d34-ad3b-db8366f99c47 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3a36b11b-84d7-4eee-8826-a556b63d355c phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aef32e64-9684-45c7-9ae1-0acc6afa2900 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9c63dc47-57ec-41cf-8c32-c9bef481ee7b phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0329b891-a68d-4053-843d-ed75455a7a8d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:86433ca9-a8a8-40cf-a0fa-a230b66aacb4 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5ce00407-ab6d-4c5a-971a-0001c311af95 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5e0d3761-0616-448e-8f78-0a9042e8da47 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7b1cfa43-d1df-45b2-86f0-a80ab1f94ea3 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:311a35c3-5c15-4fe1-82c4-edd2a11a8e49 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f597701-f6e5-4719-8034-15a8fb759d05 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b546f73b-d8d3-494d-a1a3-265a12e1000b phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:469339a8-ab4b-4bd0-83b2-4c769817da54 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad973164-c2f7-45c5-a13a-c783e77546fb phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:da61949b-ba36-405a-8a73-c60027018a41 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2454eb86-cd0b-4988-b3ff-8cb71a34dd88 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:570d6e94-8b8a-44b7-aefa-be6bcb340976 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f707fd56-6419-496c-8b43-2b1583f7ea24 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7e0750ea-96e4-4955-a084-05da4bc83b6d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ee514b00-b765-42d2-afb6-b5bd0c24b21c phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cc44210a-9feb-4d5e-bfa6-66ae4db8355d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:78dce882-cf83-483e-8043-7b797d25b379 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:59c78bf3-4689-4791-9b02-d1643127fb04 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d324224c-448f-454e-906c-72b62ef643dc phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a948b5cb-6f01-40b6-bc02-9cb3634b667e phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3181151d-c61a-42e3-94a4-1a493ef09f16 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6691d1f3-286c-4ede-83a1-4a0abd22d2f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:05f0a6e0-db2c-4b73-a750-aff92ed7d003 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e61d02f9-6d38-4ab4-b9c6-8631acf4cb7a phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:87bdd5f7-3d6d-42fe-959c-bf38854f649d phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:784cdd3e-2553-4bf2-9827-8961129c0274 phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bcb3b993-ce54-470e-86ed-f5151910ffff phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:780a625f-5b5b-4cb0-ab51-51b6ae7d437c phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:b2789f0b-bd8a-4aee-a86f-aa900f5b3747 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P4M infores:phenopacket-store PMID:36586412 uuid:fb69a916-642e-4d1a-987d-2196bb323f3a phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8a95ae36-0088-4399-9fc5-662dbb59c9fe phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:30cca912-04a4-49cc-a86a-b2212578f25b phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ae7a5002-968b-4781-8797-70667e021886 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:fa5572c0-7e34-4223-8f72-2c075fa5e745 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:79dda57a-208b-42c4-8ed2-519a6f52bd4f phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:aa4068e7-4e4c-4466-8518-4a170de6f66a phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7393b7c9-65e3-4b9b-a06a-c70c9b14994f phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2489b9a0-e4ec-44ee-a6ac-0a70c82556b0 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b13fb868-869a-49a9-8e82-55edbc462d56 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2ba1ca1c-fb9a-445d-8ab1-7aa6b0aad073 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ba9f63bb-8eb5-4cb0-b348-df1bdf13f8c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8a22fa27-6b14-49df-9e46-c0e690f36194 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:beebfb77-0875-4c4b-9e03-4958b0031296 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ff02cca3-671b-462a-a117-4910e0fc959b phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d45e148e-70e2-4c68-bb4b-4bbd4accefd6 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fa0d2711-3a33-4282-9610-516bbcbab8d1 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7ea4d316-553c-46ee-9c6a-4e784cb8b128 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b5f3d79-efb9-4cbb-9cc0-82de4f065fac phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fa60ed4d-6836-4322-8dfa-85f84c5265ad phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7aba8266-09f4-4ac0-8097-719620eb8ae0 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6a32fa36-d882-437a-b743-16de1c7927fa phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0d59c7db-1243-404b-93a9-6bdb4a5e31e9 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d6fbcfad-cf40-415c-ba44-d8da3bf08640 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:504d4844-6378-4c76-870a-f698868cd992 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a5e6306f-30bd-45de-85e7-24954cded23b phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d56cddda-9ba1-417d-b27c-0a28eaa3bc9c phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b4424ae7-c375-4d16-83ee-816a3a40b0fd phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5d168957-5a69-4197-b3b9-3295fe88c24e phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eb5eed30-b152-4eab-89ef-f4bcb62861ee phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6b0487c2-8768-461e-8205-b8be4a7c5277 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ec315d28-820e-45e0-9d1d-148f6c1f44fa phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:962b7993-0bcd-4bab-80a5-a18845a7cabb phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:946bacbc-2926-4428-91da-ee0940b954ce phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e2b5f288-8848-4404-89d2-794353b84289 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ac420553-2803-42e2-a8de-cc4622dcb1ee phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:37ffe1cd-cc5b-412d-ba98-681e440cde83 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5d7385a0-a335-4bb8-99ab-e51246024d6a phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5a1a17b2-7690-4261-96f1-19e4f4cb5371 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3563925e-f2a3-4dac-8f45-b1c4fb464580 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:968102a0-5176-425d-a763-a13f1fb49d9d phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c0b3140b-abaf-4733-8563-01f4e58769cc phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d4a94c60-4be4-4505-9447-fb6b2f96575d phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9736d3c1-936e-416f-9417-bfc7877795bf phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:be233cde-8edc-4422-8d54-ed83bb9fa667 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4b9fce83-079b-49f7-bc62-a83a77095392 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8e83ab53-c8f6-4f12-83e5-6dea255d5b25 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6c8a2161-e092-4261-a0f6-d4584831cee2 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bac38641-f06e-400c-9151-f259b8cb54fb phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4437eb98-6336-43ca-85ab-1ebc1a5c06f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f24121bf-608e-4cff-b55e-e954637bce13 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4c78a70b-f2a1-415a-b1a1-e9067c24e5cd phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0b6fd242-cef3-4f33-b079-3e88ea71bc25 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ed8ec52-dfa7-40b0-8a94-d26d2341a379 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:22e93188-7d35-4550-bc30-fe9713ea8454 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ac8326e4-619a-48e9-af37-b16332efe835 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:36586412 uuid:4473d687-83a5-4f73-ba43-5a0188f6b247 phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:c0f0335f-8357-486d-b441-ea56568cf46c phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:6b3aefea-d389-4c7e-8310-42bac7a2bd3c phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0f10ba63-daef-49f3-afdf-92867616f31c phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:333cfd1f-d915-449d-9666-03d9cc599701 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:cb31739c-1d93-4acb-9ceb-097b3af1e20e phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a86ab92a-3f77-415e-9049-59accf83ae96 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:14436668-4d0a-456d-9dad-db97c03b1f55 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5356ea9b-e1e8-48a8-b3ce-04f9916e8b99 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:653f3ebb-feae-4ca9-a9f4-6064f0f7d859 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:872ba92a-40fb-4e59-9c5b-cf25c09996c9 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a3c63833-163c-42e3-9026-7ad3545c8995 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8f6ed151-0ae8-409d-a69b-58d5260813b6 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d3d600e1-63c8-489a-a82d-ae1d90221c76 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:00b5e79b-375e-41f2-bd94-ca77f0b65ec7 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f66dbfd6-1051-4fbe-8755-24f7e8adaf3f phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0ca8ed01-f3f7-4302-8b2a-b8681041d762 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1e30835a-3e62-46f2-9501-a316842f0f57 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1b48bcd4-6a71-4b51-be4e-5caa701e479d phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9bf74e0c-45cf-4bdf-8c93-edbc47a9e090 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8fd75902-5b71-4252-835c-6b459a1f02b9 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7e7f9ed4-914b-4481-ac40-0da2e864083a phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a798982f-e28c-47fa-9a3c-a26863d113b1 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1d2e7535-03fd-48fe-9475-d1b272525e56 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:df234009-2124-4d16-8925-e1e7d297800d phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:66bbe019-d9bf-4f6d-b2cf-5def00f18ffd phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8deb52eb-dffa-4456-911d-630e6aa41b55 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:627c6af6-81c0-4ce3-a578-766ac5575b31 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6352132c-8758-41d5-97c7-5d2d0d12e6f4 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:795abb3a-4c6e-4a66-8eb5-67130de798cc phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:16bcd715-4e30-4fa6-9e71-392d78bf4974 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:37c3b167-00d2-498e-9ce4-a648c55070a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:01c670c7-3af4-4485-9917-2e48770ce57a phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f1b76797-31dc-4b02-990e-2e836799ee68 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b76aeb91-1fd7-41b5-a5ff-c965635b5461 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:97e144be-e028-4a7e-bab3-ddeef18799fb phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:104322cb-f270-4990-95d5-859c7b528ac7 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d6bb9bfb-1bf5-47cc-a70f-5dfa92792178 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a6e8b7d1-9f3e-4dd3-9186-298dac15b6cc phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b0ab31d0-55fa-4387-b6e3-20ae3a58b6c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:656c5140-07c8-4c8d-a8f6-49a1cad967d4 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a229a542-9c27-41ad-9b67-fe43920db45f phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:309740d4-432e-4f66-af66-83de65eb530e phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ec18ba22-7a76-459f-95d7-f8e0ca8a2be9 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:898ea66d-aef1-4384-8d60-a85ca9243396 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b5c6d03b-d2c3-4a83-84ae-9c8924d8776c phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7254aef7-35d1-4fac-a262-ed074b5324a7 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:167d9f47-f43c-4765-a725-36c1d151af3f phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a664b009-800f-4013-ab4b-fe95115e2e92 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:449003de-710b-4a22-b923-ff6ce775b4ae phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f2f72f9-6e84-415f-a258-45fa2d5feea0 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d953dfa2-f94a-4c5a-b954-352b9a0417bb phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a84d67e2-4310-4e4f-bc80-7742a76ffaf5 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bbe61ce5-bea3-4c6d-a0dc-23140b43856c phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f2090302-6466-4de5-83ee-b879da7267b9 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5e6819ef-a430-4a3f-bc3b-618fbb915855 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:13d9b357-9183-46cd-9857-5c6f989534d9 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e3b840ec-af98-499f-b5a7-995788ec32e6 phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation P2Y infores:phenopacket-store PMID:36586412 uuid:39ce4bd8-9512-4000-b6c7-81a17c8a8cdc phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:b1b979d0-04c4-4df9-9b20-38f686d41638 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f72e0e54-3db1-49c3-9223-4b16a69ac321 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9f70da65-0195-4a84-b2d5-a1e65695916c phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0006610 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8ea9297c-5ee0-4e53-aaee-70b46e9e2e30 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:aa64aaa1-5756-4391-842f-ba93010ce704 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:71747dff-3084-426c-9a4e-6906db16dd4e phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9292d1f1-8701-49a5-9c1c-689f4fc299cd phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:83b701da-8bc9-47ae-bc56-6b8b81f6a50d phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c6b0e1de-ffe6-4acf-86e6-9f4f1733b16a phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:2596718d-2560-4e67-9d2c-afb674dd3700 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9cd6307b-c6c7-4c2d-8d54-e23c7a3d2560 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9e3d1bdc-328e-4bad-b49f-f9cca00a4634 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b0e37576-66f4-4a99-b22e-d9af3c7314b6 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3c85f5d2-fd61-476b-a8d2-cf58c5b6d8a0 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:95bb74ac-746c-470f-a9f0-849672df1e00 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e29c15ab-1dd1-42c5-90f3-2d57a89452cc phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5d388eef-238e-495b-a7f7-ad8f1cb37fa6 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:40d1e23e-3c4b-408a-909c-179c31c4904d phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f6b9de24-3204-4806-a0da-b87d0f7e44df phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7184d168-c876-462e-ac4d-19ba7f555b35 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bd3727c9-894d-4a49-b55f-bae5e6334ce1 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0c87782b-be86-4e3b-9bfe-b50433972339 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:417c0fcc-3e84-4b18-8c7c-9464a55d462f phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6424a708-64a8-4ac6-b1ae-fcd66f88fb0f phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e335b1ad-0d9d-400c-bd5b-ea86701ba055 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f755b8fa-5f10-4693-9829-15e6d582c064 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:351ef115-e94a-4b67-a61a-2277fecb922e phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:01b44059-0c64-4fec-9640-cd63e5b03838 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cc2d163e-6211-4827-8f79-b2c53b68b73b phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d28f3bbe-e4b8-40ac-9e3d-82694c90d2cf phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4052b790-3a05-463f-9fa6-f83847beaa17 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:993836ce-2041-4df1-b644-95fb4586ea6f phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:af5bd9e3-3318-4f27-9711-a7be000937e1 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6ef851d1-bd93-4ce6-8643-46d3657763cd phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:80ff9662-b201-49b8-8adf-a3a99efedd8a phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c8d7d97b-a72c-4ae4-9d8a-e5227b424b54 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e1c90ede-10be-4b1f-a5b0-885cb44d8cf2 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5c0f0d91-ad32-494f-897a-6f920ab475b2 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0e1835a1-aaa8-4213-9b3f-5fd5dfd079fd phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:22d0601f-35cf-4608-ace8-3282afa75847 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6e99d5bb-d6fe-4260-97c2-3dc7aec972cc phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:407ce77b-e7b3-4412-90ea-51a99278174e phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1138250a-7612-41ef-aaa1-5d3e2a5ca28e phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b74f5450-61a1-4f52-82f7-3c9d8707fe74 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2da9f742-8ef8-480c-89ef-ef174c931df3 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:93250d02-02c3-438d-acd1-cc5e93c5ca95 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7561fe74-94fb-4140-a7d3-415a9805d473 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:01a9844b-c399-4c67-8c6e-5e12e5a484c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c96fa84c-b32c-4a4f-b331-7c2ec1939268 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:37645063-c41f-4e7d-9448-fbe4e1c3e7db phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0f260672-eca0-4074-93b9-7c15a408267f phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c4f75a87-63c0-4cdf-b95a-fa80474ff100 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:65c04bd3-71bf-4feb-93fc-6a8fc2f82aa3 phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:df3fd162-6a8c-4f97-bd94-fd866bffe23b phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation P4M infores:phenopacket-store PMID:36586412 uuid:c7f1cdf4-e6aa-47a6-a096-660029849a8e phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:4a745d22-e1a5-401e-9dad-8192f8d87e8f phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d780eca3-5b86-46aa-920e-c3fb2d6583f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f11efb40-a00f-4194-9ad0-5f22bdaabed8 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:12ba5d52-bc68-4aec-a14f-f0aabe86c5d9 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ab50a3b5-8889-4adb-9b56-2fdf151de937 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b47ee824-f54e-4133-b088-3060a094cd3d phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ab98d3ab-5713-4854-9872-199109ee0876 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6e12a7f1-56b9-4997-a781-b3a8fe3b76b1 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:094e356e-fe26-4b12-bda4-a65870ea4b73 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d0209e94-7a5e-4620-bb5a-a6b7e69beba6 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a603f355-a8be-4ef1-a144-9c8f3977ea2e phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:33369b2c-1fc5-49f9-bd4d-a76571422a5b phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:40e3d8d7-5cc1-495e-8f54-554586021bd1 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:857093ed-ea46-40bb-a512-a8ae8059e8c1 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e25251c7-53e5-4081-8015-d03c28439ba3 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:888934c8-31ee-4a18-8a9a-98a9c66eeda8 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:793b4ecb-3d59-4393-8c20-0291c0cc7663 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:91ae9da7-b0bd-423c-aca7-229603dbaaa5 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6e1f130c-ab55-49ec-b301-55d491124a9e phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d4ed4693-8497-4d6e-bef1-a207acfad7b1 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:11f391d6-2c09-44b0-8d30-e8004ec742db phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e29cb220-5ecd-4a35-bb41-9b9bce9763b7 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1ded48ff-7cbd-4b98-bafb-3a7abfd7067f phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:159250b8-0e10-4613-98a4-77a2da7e0e42 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3d21ab1a-9fe3-4e62-a66b-190aed22bd0e phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d0890243-5137-42a3-add5-5a99fd2dd24a phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c5ffaf9c-a56f-4ca5-887d-f6c344b0ec8b phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5fa592eb-9811-4e32-9f9e-ef3f83a141c9 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a48c9038-d526-435d-a648-64bdacc0bc3b phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:41997653-fa4a-4718-9360-8c5a201fe568 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4a7dba10-5da7-4a9c-9063-67440093e2ff phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:61d914b3-260a-4108-ac63-af9c7a7a6082 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f591510d-c14c-47bf-9b49-41b44fc9028e phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:42f0ab8e-f332-46eb-aef0-da13ccba943c phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e879502c-3e77-4b18-bf47-cc455e24b326 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ab0ed705-f332-4171-b1d5-ab12017304c9 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b4f5082e-f9cd-4c00-8548-98d02064b313 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d9eda252-e04b-470c-80da-526dd533816f phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:edd21d09-b434-41bc-b2b3-b9dbaea8fa2c phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1413b34b-a266-4cf3-8fec-fd4b46ab86ed phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:57fb0936-31ff-475f-b1bd-d123e96f4dbd phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:74da11f0-709c-41d9-a268-c2d16a5f5697 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aecf3d05-c407-453e-9663-25fe782d196b phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e6de8c2e-dc27-45e1-b272-c68a869af803 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:accfbc37-2164-4c11-82dc-8c9c88e73a4e phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:72f514a9-56cf-4afb-b1a2-ec622ff1216c phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e4feb2df-d038-4097-9d38-6bcb6551c1d9 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8c29b544-f458-4c46-aa4d-13b559147a29 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5a0b8abb-20ba-4aa6-a6c9-a4e04c942152 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c1517113-abaf-4ae2-9ff8-d56cd6c36771 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:361c2ffa-519c-4978-a93f-825f18987287 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f5652500-6d28-4926-bd47-4fc69c35e86a phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7d5687ef-d4f9-48c7-b4fb-b1622f6b7777 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:95cc9511-7cb5-4de6-bc6d-49eaa23f0aff phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b37616a4-4fc2-4c9c-8ed7-eb181f7b8b15 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b2badf6d-6873-4393-bb0f-b3a5fb34f53b phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:24f5e200-a80b-4bc3-b745-c9a07b1c0b20 phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:0f84d82c-1f94-42f4-9f99-53bf2c9215ac phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:1835bdfd-547e-4d9e-9f81-683e773d5d6c phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:a3678cc4-b986-45b9-82d7-8f31886642a6 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:06afe7c7-eb8f-43a2-9e8c-89088fbc968f phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:2ec4002f-cc63-432c-99d3-351d6ed541ac phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:5bb1583f-c6bd-4026-abbf-9d3adc8e3b7e phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:0dd4050f-b4d5-498d-9d59-12eb665d574a phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:866a2fd8-898e-44c1-a219-8dac1617428e phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:16ed325d-4936-492c-9e70-ca85f204b7d1 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:1371c119-dd03-447e-82ff-f1f2ab7c85da phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:58a5df18-1a08-4400-b2a3-991aa1c4775f phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:7e5de05a-0d99-43fd-92df-e3442c72c8b4 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:fc166520-46b7-4ccd-a0f3-8da37fbc7b79 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c236241a-016a-4212-9090-8c21169e23a0 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:259066a1-0de0-40f3-8bc0-4d23954e072d phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:42acbbdf-2719-466b-8eaf-92f2932d6613 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:3c216f1c-eb38-448d-99d4-a8efca54a657 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:34bfcd14-697b-43ae-a7da-9992c430ae93 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:190f9412-ee00-425d-ba74-985b556a390c phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9333dc1a-d388-4fb0-af70-e0c8aba3b742 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:559925bb-90f1-4e59-b380-2a4e8b813e5b phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:2349fa4d-80cc-41d4-9ad8-01a258299f47 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:6f103b25-8454-43e2-986b-f7f4a13dfa09 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c1d584e4-d857-4dd4-932c-6900f0468fba phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3b8a35c8-7968-46b0-a19b-165011e3cc2e phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7a0e5ece-ef0d-476b-9cdc-7b00c45df281 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:925ab894-34eb-47d6-a0f5-80dfedb33aeb phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7dedc0c0-0cf3-4444-b20d-f7cca35d17da phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8e63081a-6c6b-4197-ae13-2dffd5edec65 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:79d38243-b0fe-4ee2-869a-245446852c4f phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7f94ccb-5b5d-464b-8ba3-b0a18e7d1dff phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:70ba2e30-2dbc-44ed-9b99-81d8b2b447d3 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d9eebc7e-e71b-4643-80fa-9fd1f3795c2c phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ca0572b5-2d6e-4fc5-b4e5-4f0c7ee5caeb phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c4b004db-36f8-4ba2-bc7a-cbca93476867 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d15a257d-307c-457a-9178-fe3f5bcd40ff phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:83d4117b-e608-4615-8d95-312b0bdb0054 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:93c51876-debf-4a4c-87cb-4373b10c6817 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f693ac90-f5cf-411c-8dd6-164b1aa81abc phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:be78a46c-4508-45a0-98aa-ee922dad51b4 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0c81c685-0211-4911-b2e7-dac537affeb3 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a2344e25-bd24-43de-8c30-1eb9200a8a36 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3a4fcab0-7f04-4d99-b5c5-6f03d09e8e0c phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0fc04cf0-885d-4f83-b95c-fb85884191db phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c8f20c3e-20a1-4cca-9c1c-badd240e5f6c phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:edd865e0-c319-4ad6-a299-7a58df30a2ce phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:549917e4-4267-4eba-844a-735276ac5fc5 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f452659f-9116-4cf1-8da5-bb9330583b2c phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a6131b5a-b81b-444f-b3e1-8c7d359b6b56 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:564a74fc-bf90-4bbd-b8d8-37bf9c8605a8 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3d7bcd79-8eef-4b9a-9818-e25bf1341bdd phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c7c2bf9a-f743-4018-ac67-afd55cd82224 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:43348f95-4d1b-471e-86b2-45e569ccbbee phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f09aea70-3b43-4568-a0af-7faa1f65de00 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9666c60d-1735-46de-b29d-8860103bc911 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:530736d6-f400-4ffb-a6d7-0dbfa4a99de1 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fc212379-6726-4b49-a599-68a34cf15cd0 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fde29f8c-6b81-4d40-8b68-bd35adad2608 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e817947c-a900-4953-ba18-8a54ddd01b70 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fd1a8b84-1531-47d9-bd51-1aa91a95b00b phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:78de5c73-59d4-4033-86a4-74ac826ac324 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad24acff-4bf8-4c7f-bc0b-81a41763c9c5 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d7fab7eb-24c1-4c79-bfbc-9ffad063e417 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a0bc656-5721-4875-9630-882e30985b17 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:587b2337-9a1e-49cd-9a25-ac93b61c50fd phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation P3Y6M infores:phenopacket-store PMID:36586412 uuid:9e155f24-80e5-4b58-a300-7ef1778fc8d8 phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:d116f2b5-8d9e-4397-bd79-6e456e2cfa78 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:220e9c2d-9d2e-4d2d-ac48-48d7c55fa9b8 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a20a7631-48af-48ad-91dc-06428066c8e7 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:11fed68a-b526-4662-9964-33482fdfc1db phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:24bda3e3-a5ad-406e-ac04-9c054785df20 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7cf7a203-05cc-48bd-91ef-4ff5a9c38c99 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:05ad32ab-3928-40b4-b2ea-0f49daf43c0e phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:51c25d57-6fb1-45ea-851b-10c732590b94 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:77d7298e-77d7-41b9-8d2c-22e30a255087 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5d509e25-d8c5-4f2b-ba11-51194e73ee25 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:96e00bbf-1d10-4db9-84c3-05ff6fa22df0 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f2ebddd9-39ea-494f-8229-979c442d7273 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d2499cb7-4e97-4b5d-8335-c0f96a01d862 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b04f17a-a7bd-4788-a5f4-d4889b63d6bd phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b3de78f8-8ba7-437f-9e7e-f6a963645aeb phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f07c54a6-790b-447c-a0cb-47daef69dd8d phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9912b970-4bf7-4015-ac46-f6206be718c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:19838506-8aa5-4c38-b9d5-95bc524886e9 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a0f953cf-334e-4a96-939d-d364f31cdd3f phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a3841727-a12a-486f-8d78-ae70b5fbac7c phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4585e3e3-ca4c-4493-870e-f66018b2fa14 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5bda747e-9499-448c-9e23-7e74da91f09e phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4fef4a70-187d-4603-8056-b1da805b252a phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ce3d9530-91ee-4d3a-9fe1-b9613573f8a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b2327f54-25bc-4d37-9e42-1dc4e5cf9e2e phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3acce22e-bf7e-493f-ae0f-210914cee455 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fa593445-0a88-45ce-b4c5-db094c0b926f phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a79a55c9-752d-4258-9f63-d778c10d5fa6 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:44f74553-12ca-40ad-8cf8-b5c52f949e59 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b1a73489-4b7d-4535-b818-700763075c23 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2f45419b-0b1a-4cb8-8dd7-073c497efb99 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bfaad6ad-b0ff-4e36-8107-b2ef2e286f49 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9e4c24f9-fa2c-4de0-9da3-4b47ed506fcb phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:41e88f7b-1658-4e5d-bc75-89a1041ede0a phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bd522876-c3db-4e34-b582-a7e9ac1038e5 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:04fdab5e-f4e7-4498-b3d4-d254ca2eaa09 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8f3ad312-5940-43a9-9134-0e7fa7625481 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3628f964-cb22-47bd-9d43-a32326b9eed8 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:78987026-c3f0-41c9-81f6-61939fd58dcd phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f288566-f6b3-4ee9-ad30-9bcb6ed3f700 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eca026b5-d00c-43e9-a843-e3d486572c8c phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:71ee4788-50df-49c6-85b6-be1c25598836 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:43eb7e05-ca2a-40e4-9882-93f050e411a5 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f1954f5-8e48-4dc8-a6a6-274dd10bbd0b phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ef6d63cc-2478-41e6-b02b-a78452525456 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0dc108da-411b-41fb-a4e1-a3df0a9e9522 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8db70a36-9fb2-4116-b126-65fbe73b77d8 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6ac23f7e-de1b-4397-ae33-7d32731e4b3f phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:850f17ed-15d0-4eb7-95e9-f67f9746347a phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c3a3a191-ba45-497f-a869-95c55dae0bd1 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:51c464c3-8aba-43a6-addf-c6bc2cf40903 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b4a3abd8-931b-4a75-87ce-fb314213b9db phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:0fbdb277-918c-4e61-9a15-6055bf9657f6 phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:75f08088-abf9-4744-be16-75b6f1abf64d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:205e795e-c9cb-4264-a025-f70d93ba721c phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:479b09b7-18ce-45a6-864a-6aeb7e9e5edc phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ceeba29a-9ce9-45f4-99ff-f525d4d839e2 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4fca04e2-3116-41ef-8a69-f12309c84631 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ea461f6d-192b-40f7-8a92-75e3a401071a phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bd71c588-d33d-49a5-883c-a63f131e638a phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:90e9e4eb-165a-421c-bed5-f8b71d6ca184 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0d3e2b45-8761-4bd0-8884-39a7c1c7754d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f20c8508-3779-45b4-be90-81630317fafa phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f7f1ab4-d103-482a-84db-dcebbd4ee7a7 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2f66cccf-3fde-486d-b9b8-c0d803775f29 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8f768219-e319-4f2b-858f-e092b7ebe42d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2f423354-de56-4049-80df-04f00baccdeb phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad395ce2-c643-49ec-bb67-ecc313951924 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ebe2b498-9a6c-427b-8be1-a4aba5bf7a43 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:334b4dec-a5f0-42c2-94ea-29754b0fb89d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e08f7939-d31a-4f61-a11e-ad1b3a6109bc phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a0a3e580-85cc-44d4-b690-13230c29e4f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ee0dd898-b28a-47cd-81da-786728323150 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:986c6c79-53e9-4c4c-a5bf-97ba342a7ee6 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5a473148-4916-4fec-9417-39c200b8a6b4 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de03722a-d9ad-4e3a-b5d3-970c29be2b1d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0f360f7f-c341-4163-9438-a32ec029bf05 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7a1a4556-22df-4b95-b51b-3fdab43991f9 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bacc72c0-6ee0-4dd0-83a2-78cac1aa18b0 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:218d8e6c-d3f8-4430-9b59-c7080fbc7213 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d80755d0-db99-4e3e-9375-d55eddf76eeb phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b9920171-2405-4651-a8c7-95268d31569f phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ba77c8b0-8063-4068-87c1-63bf26a7cfa3 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a02bd45a-f59b-4f04-b240-4b30c49decdd phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8a63c4a0-44b2-47dc-9353-1b795e2031a2 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0af9d8e4-e966-4048-87e1-ceeddfb8e7e3 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5758fd0d-7ac1-4f09-bd4e-47dc1bcaa63d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8e76d91b-2942-4b8a-9dd6-10cfdaba101a phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c9d267aa-cb61-4b0a-8d38-355f83ea47ed phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:881e45eb-4b71-49d8-aa2e-12887a6031a4 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f4a9bcea-94af-477e-a8f3-05785658d0a5 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:93250f5c-bff3-42f6-8fc1-8ab822eb7327 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f050576f-0679-4a9e-b598-7882207fe9c8 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fc48ef29-a798-444a-b32b-8dbd717c5b0a phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1326b31e-13f0-43a5-b1f9-c5bc9a0f3b8a phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:83dea913-3ad8-4105-8766-bad748196665 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ccefb0c5-c906-4208-9b49-fa9bf086c006 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ee5d2b9f-9794-44cb-bb23-574aade8574f phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1b028d08-77a2-4fa6-be0e-8b61a8941c51 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:91f65c5b-7804-4c5a-a7bd-f09f6f0a85ae phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6f43d11e-acee-4890-86c1-be1e148a440c phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1271f437-628e-4d1b-abee-9d29c54cdffb phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:607793ee-dcf2-4a37-92ab-f600bfe15d1f phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e198a2fc-165c-470e-9e31-233e59890a1a phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a086d4da-86c4-4eec-83c7-2f0180e358fb phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:23baf751-3106-4697-ad3a-eb48d0bd85c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c7910a68-6d8e-4e9b-a067-b976a3e30b27 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3a348d22-b8ae-4a70-8251-95af47a5b849 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5e82614a-0a5b-4193-ac16-70a89865d707 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c24f0386-dc2c-4fce-9673-0c3c66ac371d phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:8ee77da6-0f52-42b8-8a96-69493ab2f140 phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:fa9018df-76d1-48e7-a383-7f2f3cc876e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:07f225c3-628c-4633-93b9-ee7e9c6f39a5 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ab721796-d419-4af3-a897-d366a3d60c49 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:715185c5-882b-49ed-92c8-931bfe5562c5 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:430bdb31-e66e-48a6-9a35-bb89cd034c79 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:1453651b-7a96-4003-a28f-d29c53c78f8f phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f22eae20-677b-492d-b263-785f695e1295 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5604253c-ac95-433e-9b65-78bf7d8cca46 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:945ce4fc-32aa-4ef8-95fb-e1d315caec8e phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b156dc29-7b51-4b1a-9a53-4870b95d0697 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d58e42d4-308e-4b3b-ae8d-080ce0bd6788 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e4da1f46-cf5f-47b4-9a5e-08a9d29b7322 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a4f4d3e0-e0bf-4693-ad52-0c3f830f5288 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c66ebc6d-aa76-4b3e-a2b4-b5b41d56356d phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fa5280bb-c025-47c0-88e3-d5d83afee1b5 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4d569eb7-83ae-4ca0-a347-386828c15a1e phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5dc14c90-d4be-45e9-9bb3-cd691f3e55e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9315433c-bcf3-4fa7-b35d-9afd01e19413 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:04892eac-4daa-4205-9156-7115a97f9a13 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:88adf1e6-ea30-45f7-af13-440a42353977 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fd6788e3-62d2-4fae-b45d-c30e4dc2a62b phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5f25831a-8fa5-48c6-adbc-ec219fd48087 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:500f2252-df6a-425f-8239-5401c51f8f3b phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fe49ebaa-bffa-4abb-911c-d8fd7903f8f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bc97e408-5160-491c-a699-3aeaea3e9c74 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b8ada58b-585e-4e21-bf87-d9d2517cb9a3 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ec65b4e6-ae94-475f-b2c0-a2ff7fcc7c53 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b9ade7a3-10a4-4f64-be2f-d63254bbbfc8 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e4495d15-51f3-49c2-9b06-6c384c930c13 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bf65bfce-45e0-4c5b-ac83-1f02b272c68e phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f991033-062f-4180-8bb2-e1476dbf763e phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c03749c0-defd-46d1-ba44-7bf4f17cc228 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e3bc9364-5027-4bdd-b6a8-dee35403d9ac phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:431f3a18-b1bf-4f2e-b83b-c573d291f734 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7fd0f627-9b4c-4ee3-b59b-7449b64bf4cb phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6835b73b-434b-470c-a18b-f37ac95b9c07 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:067fe1c4-57ab-4027-9df9-2bff6660ac6a phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:91718c8b-2e0c-4254-b170-4567fc180f25 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0ee6ef62-4469-49c4-b18e-fd0401123102 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a8ca28de-9ead-4111-ae2f-9c73349d70ae phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:384580e8-ea34-4296-8e55-d38eef770a2f phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f580af21-54ef-46e9-b26b-a637905e8308 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4ec0b497-7b3e-4869-aa65-ecab58fc9b49 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9d9dcfbe-a5b2-42e2-b263-afd9708a72c2 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8491bdf3-d8b5-4247-a01c-83a6d72c4384 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e5279ca1-2e62-4ae6-a6e0-b94516a50584 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ac4b67c-a560-416b-b591-ae836673006c phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:07e332dc-ebe5-48ca-81ed-63b09d3274d9 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f027c278-c451-426b-b248-929bab5a5b72 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a1ee9ab5-dfd4-421e-8d52-7db0cc38b0b4 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:70d4f0be-5042-4887-a2b7-03cfe0a6a6d0 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:38476ef5-0265-4b58-85e9-3344b98d2f42 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation P1Y1M infores:phenopacket-store PMID:36586412 uuid:6fafc0b6-01ed-4321-8917-bd316e4f6b64 phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:710c08ac-fa1b-44cc-aec0-428a1058634e phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ecf45c45-ef79-41f2-87e7-30ac61b9ff81 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ceae97d8-84dd-4aa0-94f7-950f3e8adaeb phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ca82fa80-28c7-495c-9751-56955368a709 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:232a6bdd-d1ae-4d32-a4de-c894e5ecab11 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:cfc8dfb3-1b71-4c92-91f8-7fd0e54bddb3 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:40bb4250-9451-49d8-b2ed-f6570186a1b0 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9c075df1-3091-4f25-847e-9d5152966691 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:065b2723-f615-4185-9074-305c91f52be0 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7e51f80a-70b0-4641-9940-6c6850efcd8f phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:823e7df7-77bb-4f40-9b57-e77295f6108d phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:81de5817-e2f2-44e0-a5fc-ba7e1b1dcb98 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f585c9ea-77b5-49f8-9585-c80bd86d8147 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0275d22d-8ad1-4423-84ca-8ba24fef37bd phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e27d9799-da38-4b1d-849c-f25a5d2f0b94 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c7b7bb5f-e1b8-4c41-a8ac-dd8d4e2ee213 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:60519a08-361e-4458-8970-9dd3ff0e6d11 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0ff8ad37-fbb6-4d92-a2c2-ad88a2bcdaeb phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:74b08fd4-2dca-4ff8-a4c8-c19fb1e011ae phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:16271f1c-a5e1-4c85-9f9a-5ccd321dbbbe phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1e770622-2f78-4539-b8aa-9d2f39c21705 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5589e8cb-abb6-4bc2-a5d4-5e951e7942ef phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:09f0329b-25ff-4450-af6c-14b755c70e20 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b4484b7d-d973-4043-9725-41f06b513034 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6363afdd-cd22-4bdb-9f48-c5ca0204a434 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:be8944af-8b4b-4de7-aae1-c084a7445536 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:171be470-5ecc-4cfb-a2b2-f8c4ed3ac8b7 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f620a5c8-5ef7-4a17-a6dc-8f2c73b4c7ab phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:29f993c7-c727-4cdd-92dd-af867170cf6b phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8a4ddacb-ca23-4627-97e8-9151df01bcfe phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:98fe5676-fcb5-4eef-9e77-63c03182afaf phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4622ff93-4cfd-4cf4-9e5f-30dc9122a86c phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:73fe6959-4e79-4166-bff0-0a87fe8ce607 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cea5f122-7605-4ca2-8677-a9e43305b2b0 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d630a9b8-3910-49b0-9bfe-384025e18b10 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:36ece262-7a0d-417a-9459-ed118dc1dcf3 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7c14ce4-1365-4bf9-b411-3d6c4d3cd71e phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2a12c1bd-7268-4f08-aafb-54862a3295a6 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6d6b1680-bd52-4fcf-b886-affe391bc1d9 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:30703f41-68e5-42b6-8de6-ddca371dc5a4 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:76a37a1a-ee82-4add-8e85-8d7ab5d2953a phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cf912855-7bc8-4d14-b50d-a7d350884d74 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:96518ff1-38ba-4874-b3d5-8ab418a3cf9f phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:157a8669-b897-4229-9853-f10475d3364f phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f32e60ec-830f-4df7-9d6f-94b996c8fc1d phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c70bfc18-4532-401d-8372-80ebc52d0644 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4fea59db-96d0-4b94-9936-1ccd98cfe33d phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f9b845a5-ee67-42ed-9eff-b16d055452bb phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1ee0d778-ee26-4984-b26e-d3c4e7e5d319 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:74b28a4c-9049-4f95-a59d-7224a5ab59e7 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ea64b996-4ffb-4f47-b86c-a2b191f95825 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de756bbb-1486-4cf7-a41b-d4b037c00c90 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:003c745e-2a9e-47e8-b5e3-4bc124106f32 phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:77b36d20-fc2c-47a3-bf9f-961b371d860a phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0010880 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:3e8f617c-1c13-47fc-bd71-2881f448940d phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:7d2ae987-2e96-4080-984c-44d211d8297f phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e119b07c-b1e2-4567-a3ef-0306f0d12bd2 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:bdd07137-9e49-47ef-8c2e-01ff425f1127 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d5bf7e3f-6144-4239-9037-cda5f775ae47 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:6c4f7beb-3057-4dbf-a21f-eacbdaecccd7 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a11775a7-4b92-43cf-b7aa-53006947a245 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5fef4692-262c-4390-9f3d-1e11d7362d3c phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:22a5ad39-e4c8-4809-8c29-1fdebfd7c23b phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c4a66736-8660-4412-8000-ad9318413e6b phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a6ebc38-622a-43ef-ae09-9dfaa4ed870b phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8d1d4e18-790e-48c1-bf00-900737112823 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e45dfbd4-8790-4d1b-b0e6-0e4b01957333 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:713b015d-e7f2-45bd-b878-d24a62e8c720 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:37a6248f-2e69-4c2e-b88f-bf94e2970897 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2dae6667-0b3b-4b13-a395-1475665f9c4e phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b05c0df6-9826-49ae-b109-7eab309d8f23 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:07269de8-60e9-4760-b298-45b3835cda10 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6595b4e7-31e1-42a2-b4c3-4cfd5aa91b08 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f165948f-fbe9-4b58-ba63-1a153332a168 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c359d661-8f27-4590-aca0-dfe86de00769 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ff5ad0e-c0a1-4642-8ddd-85ac015b4e57 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:49b98a5a-d461-427f-b457-90dc7a49a99a phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:24ef4fa2-211c-485b-9c3f-5f8635cfb4b5 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0676c34f-1ac5-4aa5-aea9-cf24e1335a81 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c94490f7-5571-49b9-ae7b-617ff78cd972 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5b8dd858-9baf-4ebe-8150-a7f2fbbfcae8 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6c2169ac-857b-4789-893a-bdb8f6e3c4eb phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:49437455-ab11-4cac-8586-a40be0329a93 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e4197de0-36df-4149-82b8-a337141d7ba6 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:501862a1-1dc9-4c66-860f-3302e1febd61 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e671fc6a-822a-488c-b4e6-182a8b8c9b44 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d6723c2c-f3b0-47cd-a01f-92704d442856 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:923ce30e-e9f4-4ee4-a639-598912c9ee82 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b5ada42f-a8cb-4243-87d0-1f4ef7296ed7 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:723d4cb7-c8bf-46f7-b6df-c7d51059d13c phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c5e3ccb6-3462-412b-8137-101ddcb76014 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:afb2cc25-a9bc-461f-a139-6fcbb2b09492 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:667dbef6-30d2-4891-864f-3a9f1d38ba1c phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fdee342b-5c48-4cbc-b401-07cd46d54790 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:538d54ef-4104-428a-8ad6-184176dd91bc phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6b5be349-98a1-479c-8691-e9446085e50d phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:4862aadf-f670-4d10-8ef8-8488a24ee720 phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:ba92e420-29b9-4b97-a980-bf425cd3765a phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:eae0fc6e-a9ab-4f4f-a0e0-e1c4d3661075 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a890296c-7fc1-42ee-9029-1f426b5ce1df phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:80249e2e-1408-4039-b7bc-93f891edc1c8 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b643605e-fa15-4f2a-aecf-5fb69932f849 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:7d337537-f023-4554-a4fd-96875b45c5b5 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e329ebda-15c7-42b4-a46f-784812871c62 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:45c70bda-3546-4467-b29e-e8d4c5c114b5 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:72d73574-c35b-497f-b153-1da57103524c phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b9465e33-4b80-4167-93c2-c8561c5d9c00 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f5d03ef3-d310-4e13-b1d7-0b28bf49b029 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:686967ac-07ae-4f90-8248-9a2f50809ec9 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c1cc9e27-b90c-48e3-967f-1663f8e823b5 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:79a9e9a4-daee-43de-898a-c3f0f98b989a phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ec387e47-1240-45f8-8885-75f3247c5149 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:179331b8-03ab-4775-a0b7-d62147b7abfc phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a47201f4-f6fc-4d6f-b11b-127a249215b6 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:82b42ae1-e867-4455-9d82-bdda610456dd phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7f733fc4-8774-44e2-a0c7-b5b3022d7995 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a2d1185b-f30a-4c76-a947-0c4e7a4a211e phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:81557e83-c462-4523-b684-dfa3cb3682d5 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4520e3a7-e563-4d0d-bbf8-1130316cac26 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c6facfaa-23ed-4675-8269-37a4dddd3a59 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0216c2f6-901c-4030-901a-d3bcefa44375 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5fa334c9-7775-451d-beb7-307faef29cf6 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:17c24a1f-047c-4ae2-8633-3de1e413804b phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:afb77eec-7a54-4fe2-9411-7deca3be40aa phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bbdf77a8-4996-4535-92f1-ce4bc06bf1b2 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:db4bbc2d-0009-418e-beae-ec7b0b254eed phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b77d29f7-e4f1-4403-a560-cf0538c23c13 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:791faa01-0e56-40f7-b024-2d3b932fc00e phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:025c814c-b6ed-4b7b-85af-c7d8ac839e53 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8e915672-ea4a-4854-9805-bc5fdef321e0 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad3904a6-5cea-4ea7-b488-9bec115c749c phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:94ad906f-bb85-4012-aa46-e719d4d600b0 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:23e24035-4749-41f9-8889-e3a12382acc8 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5e200a12-f171-4a67-933c-bce720d528c5 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fa09c630-ddd5-48ef-8157-e76574811f2b phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aecd41ad-9cdf-4dd1-ad0b-e3cd6020f6c8 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ded0025-a62b-48b9-a66e-39e06de3fe82 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:60734358-ed04-40a8-bfa3-634788f313b6 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b808d2b9-2d34-41f9-8bcb-d6e466f650f1 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:332bfe9e-fa44-4b3e-82db-5e62b4cec87d phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bd355a7e-6b02-4291-8168-58c8c9cc6eb0 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ff6635da-717f-4535-b17c-6b76c7888756 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d91c63c4-9095-49b2-a5bc-7d10528b4a06 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b479076-c799-4998-892e-2aa32e80cee0 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:dca9a0f9-c363-4247-99d3-8d32121dfccc phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3451d0be-a193-418a-a519-87abe0d41446 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6f4c5bb6-b737-4a4a-9597-f691283146cd phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:be313d2a-e412-4e60-aaaa-4e349a85c62d phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:d4e924a1-3f95-4ade-881b-bf20d8a4c109 phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:47a3757e-76ea-424b-bf83-13596aeb31f8 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:23b4e77a-32ac-443b-865c-b112ae5aab33 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P0D infores:phenopacket-store PMID:24721225 uuid:216d812a-5b63-4442-b099-dec6657092a4 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:1bd8c6a7-7d1a-431e-afb0-ee7d39b68a4f phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:436f8049-0f6c-42ba-9f17-5d04747a0cd5 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:f1ea521b-4f98-4206-bc3a-00cac92265a1 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:00a063c9-418d-412f-9198-7afaa8528552 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:b53723e3-cbeb-42b1-8379-031d2340e33c phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:24993e12-055a-4f3d-a64e-829e17a05685 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:f64d8350-7e38-4023-a341-4f4d0a1a1ee8 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:4cea57e9-c62f-498e-9413-31a3a5d4c884 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:097525de-df5c-48dc-b81a-d5e1ef338261 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:4645a775-fa5e-4317-98a5-01db2318f8ad phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:93af4614-8859-4330-913c-a0e1a572c604 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:accd8398-ce81-497b-919b-e5d07029c056 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0002342 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:fa47f3a6-1d06-4802-b0bf-ec208579551c phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:947da147-3e74-48ac-81e7-c6437a71a706 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0010677 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:36405730-7d0b-459f-9cc9-a337e5c9ecfb phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:7e29b662-b3b4-4e23-a162-6a43a8ac901a phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:9469f7e2-cc9f-4d2c-b71b-63c92fd43bbe phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:d123acb9-be8c-46b3-b796-a76855fea931 phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:bd065497-4b60-470e-a29e-691128d3890a phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:39787756-21f9-4a45-ac2d-d18127e623a3 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False P20D infores:phenopacket-store PMID:36586412 uuid:2888c666-2344-414a-87c9-817181c707f0 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:34bfc16c-adc0-4481-bdbd-635fb0ee02ae phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:17a305fb-1c4b-4080-84f4-f17c24c29e78 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ebb32cb0-7e33-4158-96fa-485b4b7a527c phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d4226c44-eb90-43b0-b107-b1efb990c1a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:6bac51da-7570-4622-b4de-137f2da86bee phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:177a0e2d-45e4-40bb-9a3a-f3d01706150c phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:73f29ca7-a3d8-4102-97fb-51ca38b0d2dc phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:680c6611-6af4-41f5-97c7-5d9d8f414a4b phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:19744d38-0a9c-4494-a3ee-7b8579c3a143 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:dd5f26c9-1084-456f-9a5b-e7e19b9e1d64 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ed9f557e-39e3-48f3-8e5b-d1a04b64cd47 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:1e8988f4-b153-4cc1-9fc6-591e2b2688ca phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b091d0a0-b84a-4c38-b9e6-dae94cc54382 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8ebae11f-4c17-47d4-9a45-7bfc1b22b047 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f1ecb099-80e7-4e83-b8cd-bb4f7880782d phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e6aab6af-d35e-42f8-9ded-e1f4a05a0e5e phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:1a2d8747-4660-42c8-a2da-1c3a3f77bafc phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:98a66799-cc35-48ce-8f51-333ce815e5dc phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e94d3641-bb3f-4cd7-bfa6-f3893214ae8e phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:7d2a1048-812f-4952-9878-3d2b375a31c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f106673b-502b-4ceb-b608-6ad08d65a2b8 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f44eab4-6a34-45b5-a986-23c5b23cb143 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2c06f71a-d182-4598-9a21-c471f005b1a5 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:da1a42ed-4182-4d40-9444-29bcbcb4af78 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a001d8d5-5c1a-449b-b058-d89d4a0004f6 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eabe3bcb-1db9-4779-911f-63dd46182bab phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1b8dc287-d7ef-474f-be49-a6f05468e87e phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eed1cddd-099d-472b-865c-5fac2898bfaa phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bfafcc2a-075f-4444-971e-960af7b770e0 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a37020bf-1ada-4497-a44d-c33b2be87c91 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:36369aa1-3f34-46e2-8a3e-bd896c291241 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a9036c72-39c9-4096-97c4-dc4fd956f589 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:26166e8b-cd94-404a-bef3-c8430c2969e6 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1c5f3c21-0104-4ccd-9906-072357a8f4e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:859ac501-bf46-499e-b6e6-7bd77c9fcb4b phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1a48ed0b-e5da-4a6b-944c-76d6112c53af phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:129b0e75-e96a-411d-bf62-9bedfd957d7f phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f01d4ebb-63eb-4d38-a787-1002c8e37c29 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3193d49d-7124-46eb-9048-3dd8a881063b phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:49dbb36b-2f39-4809-b4c9-7b25a32bd7e2 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:78aec5ad-c7aa-46db-be0c-4660d3544d2b phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:796a30ae-dcb9-4ec0-a426-8648dde08995 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1af7ac21-321b-4fab-aec0-25e077226fab phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:db4c9524-ac2e-488f-a17f-13639d75ed8c phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6e5fb8c7-cfef-404b-bc2f-da9fda41e89a phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7eed6d7b-f62e-4977-b88f-0df1fe2b25db phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3a022647-1e69-4b5d-8b09-5efc5d1b9fc2 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7d406242-2111-4df1-98c7-e0a72d678c4d phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:98be8144-294e-41ca-b0f8-7b127cf5ae6a phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f7d0debf-a1d5-4d51-9bf0-2d613fe7063f phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2ea4a591-fe1d-417f-9621-519a58a8cfe7 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ac425501-c997-4ee0-ab9b-c1a8ec2a9264 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b4eacd4a-4caa-41a9-aa07-063968196154 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:64617f22-c84d-46c3-b58b-bd782023d917 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a0d86d1e-8444-42b1-afe5-55dc0af6fb0d phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:284f2840-6bc8-4d6c-969c-0f048edb802e phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e556a894-2dac-411b-840d-d85384d562d4 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:16f75781-70a7-4c7c-970d-bba7b9e9ab4a phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:42e9ba52-a2cd-4a42-8357-0338e382ec20 phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:49a5a815-1aec-4a2a-9ddf-d5ba2b696f5e phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0086eb99-2b39-4961-aebd-16ca4b34f86c phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c53ed500-90e1-4b6a-b427-afd5ac4c9caf phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0a91ce29-093f-4658-8086-077244154374 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:15b8f2bf-6d57-433a-a1a7-9536deadcb1a phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:96c0a0a1-5b29-4c58-b9b6-c69c0b0f1a84 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2d0b557b-7fff-432f-829c-ea1e0dab1ec1 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d60eea39-5c11-4ad5-aad7-63cd0079805a phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2605a202-91ca-41cf-b3bd-72bee9ce153c phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:10d3d853-1b00-4560-be3f-1378209ab957 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:50cbf00f-981d-4847-9d93-0a7963ff4b19 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cd90a641-9e4c-4cb6-84a6-7be1a51a2b15 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:20fed53b-991a-4e1c-9625-7b04aeaa6507 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:95bb0893-084b-45c9-b39c-b12336b208a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1c6aa377-1a00-4bb8-8f42-ded7f15e86ab phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:09bcf4d3-c157-4b12-99b6-d8b1a2156dd4 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a1f42510-14ba-4632-a536-dcc408bd15ce phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5fdc1a58-671b-46ac-a0ae-256fa3a14ca5 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:79ea68da-b6e0-447b-896a-8f764c219e8e phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4da48568-2715-4bf0-a766-b95890a2dca1 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:15e404e2-d126-4fde-8923-37e42c4885af phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f9957ed2-ccc6-4ffd-bc27-0349453c5321 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:43e1bfa0-25de-4005-8c73-6029a9f851e2 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4c728615-3a79-40c9-849a-a9e96da2bbe9 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:000bbf96-6d03-4bef-9a61-b7c99cebbfcb phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:280b5436-4ffd-41f4-b4cf-0c91ace34f94 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:544fe0bc-b5d0-44aa-9c61-ce8416ecfca0 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:545928a9-68d8-4c98-916e-13f9c6330144 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2500acda-8483-4e35-886b-08da311ef316 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b7a43ee9-30e5-40dc-b980-4b0354816e2a phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:55df9f26-588f-40c6-a542-fc0c5e8143e9 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b26ba1bd-6f23-471b-a865-f40a8fc066d2 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bf42ca36-a71a-44a9-bb01-b17716778759 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6c5e3c7d-b563-4c5f-9612-3e97d18cc08a phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2d2c3fa2-af4a-4390-8a9c-6c049220bb7d phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ffa3797-5338-4526-93ee-c4ce4c5e0184 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c319b0f0-3c7f-4a4a-a8a0-3f6514113384 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c6160e3a-f9a3-4cd9-9eb0-3fd90197598b phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6ba08a59-6912-4346-9ca2-a0532666d930 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:92056de2-b547-4212-80e3-e77991dec4e0 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1c8f79ef-4898-4ea3-9eca-853354503589 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bd87287f-f135-4863-8599-1e40e6f51e15 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a0c012a1-2feb-4260-b892-9a0c3cf0d4c1 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:33b78a5e-6d7c-469d-a490-d0288a43d085 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bfc37e99-a7ce-4846-9581-65fd22faaec4 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:787ad9d2-e6be-4366-9802-80c255dade7c phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f9d3c598-8ec7-4f8a-ae00-6539b4adacf1 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3e45055a-936c-4945-aa58-06d81f5bbba2 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bff8786b-a7b2-4b23-98a7-1177f0fe2783 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9e13164a-8846-4389-9f02-165091d16f9e phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1cf25fb8-aa57-496f-820a-51b0417c10f1 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:91d6e8e1-5cc2-4b0d-8b60-fd206a8d5570 phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:fbf566cb-d066-4f09-961b-bd944df1f5fd phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:8b595f0b-c26e-4197-884f-0773483eb89c phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:16c852ca-27cf-4ec6-b4d7-3c5ef5814ac0 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:660f15f3-963b-45ba-b9a7-f6731edbe79f phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:0fb60d28-41f8-4830-ace4-8ef0860d94cd phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:a762c3fd-2008-40d0-b43b-4b50e832c532 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:1c13ac6d-32c2-4df7-887f-2d22d4660e44 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:e3046956-be2d-405f-881a-487e6a8b3827 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:593e661f-00b8-4a5f-b356-4887fd6a57c5 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:d80f1abb-d355-430d-8014-d4caf8cc2043 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:a05f183f-5aae-4117-9dc9-174b41490ba8 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:def0c201-9d95-4c23-bd76-63e00df31d35 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:3a182c7d-2ed8-4f85-bcdb-6c0566bc0cf0 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:a6e7b27b-f0fb-41c0-aa50-ac88a28c0ff0 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:d4167be7-139b-4246-b0ed-19c4d057e63f phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:d3f27afa-725a-4cec-a90a-e0eb721929d7 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:123880a0-5c5c-4882-9767-1b4dd23df459 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:d8e8ad11-e367-4be5-a0f6-1d4f7cbb6e33 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:c9eb3505-ff14-4eb1-a276-0a447b876c19 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:492fcf1d-b573-4b54-bac6-a06989b868c4 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:3c7d5dc2-c311-451f-9c1f-a10c7f5129f7 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:ba74be80-f920-4068-b10c-23101a28c024 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:14e23567-bfe3-4a77-b58a-9b088e773100 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:164c9356-14b6-4d1d-a7ab-f8b071ff3188 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:ea00f97a-f76c-489d-9347-872a02d4092c phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:aaa597cc-23ef-4383-bb3e-facffb1b5be9 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:3f232889-5b76-490d-921f-611997c5722f phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:d6322f61-0b22-4add-9c00-2a889d55845f phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:7bb44728-3437-4fd9-ad32-5f3f9c6dbcef phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:d3a2b395-5a95-41b6-aebf-30b71a1d5c1d phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:78bfbd6a-e158-4b52-af72-dab3c05f04bc phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:350fa1ab-111a-4968-991f-bbaa89ba7424 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:7fdf7d43-f743-4c70-8c6b-d1cc56114a6e phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:cc07c411-b37b-4f31-8dc8-3483c5020567 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:67ad5697-70c0-4868-9335-b5fa505349be phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:ce50d856-15c2-46de-bedf-9c06c3a30d56 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:97a73940-fb38-4e92-8750-2cd185c4d7d3 phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:51e81375-8c13-4746-8289-e86f05f75633 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a77c8a30-393c-44d2-b459-2ae128e28fea phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:7cee7151-da2a-4537-81f3-7d139a5ed5a9 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:3a3edd13-fa83-479f-ba14-f27b8999b73d phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0e7413ff-7854-4c86-8cc3-335b095e056d phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4535f210-8d87-446a-b00f-021c74bf9f52 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9c4b3163-c154-48d3-b7ae-058248c6803b phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a03da0df-d510-490f-a8e4-aa24b1fb5df6 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4534b173-d8cb-42c0-9a36-67f3e515b561 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d01afb3f-6a5d-4c4b-b314-480872061eb7 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:51455604-d569-4901-b42f-82bd6960c385 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2a3c040a-7f8e-4e67-a3af-94f6e985f378 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:76d8300d-255c-4982-90dd-c7bdf2bb7b56 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bf430f60-8c00-45fc-b8c4-5b1ba7855117 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de7dcc3f-d9e9-4fb6-879e-7f570a1fae86 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:57147c89-f2a4-448c-b909-7bd8ee2dd40e phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:820d09f2-7903-4bcf-85e5-a474ff538546 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:69d8a2db-3f30-44f9-a161-727bdb7bf9dd phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2eab2839-48c2-4263-bbcd-fb96fa41de09 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aa151d4e-f567-42da-bbc5-0375415bcec7 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9a85aed6-3990-43ec-a77c-df59e96b9f1c phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c3999b25-7168-4948-b2b3-dc3a13b82494 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4a6ef988-9083-4635-b3ad-61e99cbaf63a phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:16b0d3de-b3e3-43b3-ac8d-627b8d423244 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:68efd75e-57b2-491a-b341-11eb206fb92a phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f803e52a-ab95-4874-b224-83abbcae0e33 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:902635fd-4b9c-4baf-935a-16be75b3082f phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5ee224ad-4d41-445f-b3b2-4feb7243cbf7 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:35c3629a-242c-4f35-a435-162b3d703b0f phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b2179c52-e963-4efb-a158-44563e20823c phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:09debc13-c93c-4884-b95a-0ce0c053fdb1 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c533b531-9c1f-4f46-a321-7922ba0f99d4 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7641f3eb-d769-4763-bc25-1e7cf88b4df9 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a504e5cb-4b3d-47ec-b204-5b4ef286473a phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:335dd280-c6c3-484e-a0a0-de0210c3c2f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4a6043fa-51af-4553-8bae-46defe3d7c8b phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f45fbe1-82d2-4431-9ea5-c71151a8ac62 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b746ccbe-0810-455d-b44d-43a17fe65956 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bac032a9-8d83-4ff1-a8e3-895d961f430a phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4fd64dae-9561-4345-a175-a243e4348ac4 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a01fc4ee-4e79-45fd-87c4-8e44c7aae6ef phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:66d9f3ab-f089-4d6a-9899-4d18af0b4143 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:42780cf2-a739-4cf7-85bd-5bc06d03948b phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:39b56971-90f2-46b6-b3f9-da52b440b9e9 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a24fa27-2aa6-4b8e-ad7f-82ec296ca2fe phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:74970096-394b-4cf7-ae93-3a4036f0860b phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2d44d809-a496-4bd0-86d0-e6ba353c57f6 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ac2d52ea-fb18-46ff-b328-2e23c97dbf8c phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fe79501f-3748-437a-9fa7-fc29e3dc8668 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e1440669-f068-4086-a075-5ec192b9384a phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d9268ad1-6654-4b31-af63-817969d72c34 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6917f7ee-c237-4cb9-800d-32c54542fab8 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c77e641d-9cb1-42b3-8af4-2180d846a781 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:513ad7a2-ecde-4c44-8b8c-b47e0e771ca7 phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:120aa21f-aca7-4098-b49c-c15db4e73aba phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:38ea7a93-d75c-4268-9904-05b829837344 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:6d206f4b-3fb1-4076-bfcc-b23a6f0811ad phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:fa7a0c59-e1c6-4311-b784-8fc7493c9b98 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4f274c9b-19d2-4aa2-a7e9-51727b486404 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f6e9fbb0-f768-4ef1-98d6-80b1b9fee41d phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:522c7789-dfab-434d-b32f-5f2acbe6b3b1 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:432b1fde-51bf-46b1-97b5-2cd9a5225f02 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:34b425a7-332d-48bd-802c-dd43ddfd3420 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f0fdfa3b-9ea6-482f-99c6-a51f85c71551 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:157ffdc9-d2e8-43a3-9a0d-b148588babc5 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:56195f36-5879-4cd4-ab1a-36b7a9617172 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8a3f5da2-ab93-44a6-a6b6-eb8bc015198e phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:39b1da7a-b734-4dea-8580-073b07082c54 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cfc31f2f-3295-4ac7-a2ca-41883bbb1966 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0d7c730c-3ef8-4e9f-b974-b4d860c6e05f phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bdd061d3-c252-4af6-af34-19bd84ca205d phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b0b2996f-b9a9-465a-a096-662646cd29ea phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:205afc6c-a58e-4811-9475-4fe3fe23ace8 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6c9730a5-fa3f-44aa-9cfd-10052435ae15 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e89f56ca-727c-4b22-ac2f-6df00a36b5ef phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:174e2961-8340-4c62-8632-0189403c2f9f phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d7b2b66a-3167-4aed-9d5e-173b2a8c6c9d phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6597779f-f366-44d3-8e11-bc5710f23c75 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c07c8c9e-3e2d-43d7-bd2f-d65355a987a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a95f8045-f63b-4a8f-a09c-28b0196fdcb6 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:621b4ab0-b17d-4b3c-b21c-876a66fa4bb2 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e8dad9c9-be2f-42bb-9bce-7faaee64e964 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6efc5388-0fb8-43f3-af00-0faa84d40312 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:62742c20-6483-45a4-9f62-495b8a47059e phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9c5c4e22-5207-475b-acef-5c7bebc2943b phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c1297bb0-3665-4049-a9b3-cd9a3cca6638 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b95ee24b-9c62-49e9-9def-75a926aa2fce phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bc181948-344c-4330-864d-80fad71ff855 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2bc9ed30-eecd-4f33-ae78-abbcd56b5c9a phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:01a3ed74-b672-4bde-b891-e1a6df56b746 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5a414e86-4433-417f-b590-3cf78e07a462 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:94f94395-e8e4-4917-9829-74863997850f phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ac94a814-63f9-4236-8fb5-86945320efe4 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:23ee5a1d-e29e-48d7-a805-18409cbfadec phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f5bcdc96-248b-4c5b-9d22-971b5521d8c1 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:75010c6b-e693-4d19-a580-b318eaaa7d04 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bbf9c934-9255-4f59-bd71-c2873e59accf phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f0cba15d-aa42-4b4a-b128-fff7b0d960d5 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9868b9f0-d1b1-4c65-941f-0d8e6487f2b7 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6e3ef419-73aa-4e2a-ad32-401926cdf8c2 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:28ad1b09-44b0-462a-8630-2deea2a2a687 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c6c7d476-5304-4c2f-946b-a4394f12cab2 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:81ce5a25-1aa5-46d5-8648-42d79f7da08c phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5c7338b7-697f-4175-ba3b-20de7ab0babe phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5abf6b2e-a7fc-4be8-a139-1e12f2e9b6d5 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:22174690-c946-40ad-9528-e2d345642029 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:07613e9c-e1ac-43e4-b5a7-0d4d6eb66673 phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:d935694d-5194-4472-88a2-39a6b04927a2 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:3736f1ce-f66c-4d70-a56a-842627a995a0 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d00dda36-4be6-4eb8-9167-7cc22167a9ce phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:bf49f8cc-9420-45c9-9feb-36dbbd9a87d3 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8474ca02-82fc-4501-8056-bf2ea9ac5e8b phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:158cba11-b2a9-4a62-9ce9-cee1873fb863 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1de29bdc-d603-43de-8cb5-91c7f5d45183 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48116072-a551-4708-b032-7c87051d1c57 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:32309658-48e5-45ce-9c5c-1eba557ba98b phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48126cd7-ed88-41ad-abd7-74858256aa66 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:926cfe5b-4529-4872-85b3-98e7bcc5c76c phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fb4ebd00-e539-4d8a-993b-bcb11f51aaa7 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0d5ac6db-c0a2-4646-844b-e7d8a8912cf6 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ca7f5c0d-6dcb-4338-adef-5aa1898ff2cf phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:66a95565-d35c-4669-ab16-0eea2e254a8d phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0050d097-9774-4186-a713-f2f9256f5fe7 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d51790e2-7bef-4c5c-8ef3-387dd0946583 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d6674c6d-433a-4385-9469-84397035f67a phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e59d4bcb-6076-47c1-bfa3-fc54c6a9165c phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d7907fcb-25b6-4e1d-9f18-2e1230c44625 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8642066a-41a9-4351-8173-ce53cfb3118a phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5c4306a5-fd9f-4a8b-9ed8-e4890766797f phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:420bb4a9-8462-4056-a38a-d185d1b12619 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:49c5a42a-30d8-46a5-bbf3-92f226549dcb phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:542d7f35-5919-49ec-8c0a-3e2083dc00ac phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:831accaf-50bf-4f47-b82c-7ecd238535fb phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad15b0c0-fcc6-4328-a074-eeaeba88dbe4 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:29511106-b41e-4349-9ff1-bdf110c11de8 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:96760ce3-8a58-4290-9d38-27159db31c80 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:300c0ef4-a97e-4b2a-bf08-816ea764b75d phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c6f7bb1b-136a-4f2e-b8e0-97fc687a395b phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7a4bcd74-83fd-4708-b034-cd0cdf41ca6d phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fe189f96-da42-4fc9-8a92-885572ba2c0a phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1d2d1814-7a0c-41ff-91b2-3d69afb9cd15 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a3b43815-0429-4b87-8a53-8f4bd05a5ce7 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a750429-a19d-443b-9cac-c010b7d6a286 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:52cee506-cbc9-4c6c-8b78-f2ba8660f5c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:313a2c40-b836-493b-8e76-6a75336a5de3 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7d8f2995-769b-4d4e-8def-5562280a9510 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e3f64122-3482-465a-8ea9-6297c933141b phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:58544844-9c0a-4cef-950e-6f222180fcbc phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:676442ab-dc01-4a61-b28b-79f538398f47 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e2cc1958-f71d-4f45-9440-e57701b785d4 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:14da2c6e-4f98-463b-89ee-5127c607834b phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:22771cbc-3003-433e-b446-9b1fd01f85f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:110c15c9-0814-4817-857f-e957d223f6a5 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d01aeb6f-2c9b-4740-9f8a-d56195dbfb91 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:89da48d4-dc27-4dbb-a611-2dd679097479 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4a5d00e7-2c5d-467c-a7a7-20c88b441ae4 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b059feb-7c0f-4f71-9eb8-23ccc6d7dbc2 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8d486aa0-02d1-4b86-8403-449680308d87 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b188e23c-602a-43bf-b8c2-babdffccef11 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:61c77e4f-6fb4-46b0-a86c-a85460c3c835 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f0868796-6ca6-4aad-be16-c208d66e839c phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6bafba7c-a72c-4237-8e21-ae98a073233f phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6785d5c5-f20a-4bb8-afdc-57a7c8668b81 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9825552a-5e4f-4255-a985-b3a16b85fcb5 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:210d1a72-0eed-440b-9371-5a3f89970062 phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:a54aed4c-9095-4a2e-803f-ffac8592bc03 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e9c31655-c6a5-4aa9-a5c8-2a8a06870252 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:25a453bf-1257-4eb6-9b18-5e90b168e4c0 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a13fedd3-1c41-48ce-8a44-135a04d421c3 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d49f64b2-b2f0-46a4-bcae-83993601f975 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:acaf0b71-6c8c-427b-ae86-970affac6dc0 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:62c56f31-7aab-4b29-b828-5c571171468d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d342aedc-f161-473f-bb05-c1f01d305d48 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48382e3b-1d79-48e7-80bc-99c3b67ad36d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c3f571bb-abd7-4013-af50-355c9865604d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1179fe55-1303-47c8-8934-e350713c1b2a phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b811ae07-70cc-413d-8790-0e416183b646 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b2d09b3f-f6b4-4784-80d0-9aa03ec16384 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ba5b66e8-77c0-4dac-b166-ef049e2a4735 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2dabcb3c-afa2-4986-859c-c62d62583722 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c29e08fd-4a10-492e-a5b6-dfe1ef074a7c phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a5519618-28a3-4c23-a0b8-cb9590407164 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7ac88453-84e2-4d50-b9d0-77a9c91da533 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f5ceedce-8ca3-48fc-bc8f-c884961aca0d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fefd8003-222b-454f-a499-55266fcc4348 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3b715d66-f504-43b9-a66c-a6fe593443b2 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7ddb31b-e136-4114-822f-e6951d63866d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:606b2cf7-3839-4f9e-987d-bdbc7bc5704c phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bb957ec9-d195-4035-8af4-be620b1cd7e8 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d8d58630-cb95-4971-a28c-e81e7261b73e phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:198654eb-2d1f-4ed9-93d1-c778084c4530 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a8f98ca-1904-4bfd-900d-6000d99c2a60 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:30e4248d-360c-4dbf-b9a1-899035fa9b63 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c9fa292d-a915-4331-89b9-194178d8c96a phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8d161fa1-4284-492b-87f1-27b1f470472b phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5ed1e180-e91e-49e6-9e83-80f3a7abb067 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:40aaeee8-9505-4d45-8f4b-a4ed0f241f77 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0004209 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:491e55c1-acb8-4c4a-84db-4960b801a52c phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0045087 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c8a49aa9-dec2-40a0-a7ca-8e3d0296599f phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000256 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:877ae375-171a-40b1-9727-dd1109e705fc phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:624912e0-eaff-4079-ba90-1ca1b984fe5a phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0025671 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bbada3a1-b7e1-4a8b-b6fa-c73849e9fa13 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0f7ee79d-8c55-4ab7-9266-b7cd96ab23ff phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6cfc4391-3f0b-48af-9959-e1b0f9c8428d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de6fa434-aa08-4c09-bc2c-0578e47768c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a13836a8-aeaf-4311-a721-17dd0666ca94 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f3f4ffea-91fa-47b2-aba1-fd829a6ba4f2 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:20b7a39f-9537-49c6-85a5-444d4df23a51 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:54c520c7-4dee-4b7c-8a72-babe96deaa4d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3144fccf-1d2e-4781-877a-96039dd8cfa0 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:db805c8b-117d-4eb1-b8b1-a68e3c6d7589 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4fa2530b-a181-482b-813f-9e5439a2983a phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:823a1e05-2815-4600-ac77-74bb1b17a2d0 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a367485f-495d-4b71-a4d4-d821e3cf4f0a phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c9561091-8bb7-45f7-ba58-520c8e7d857d phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:19999e0d-876c-4c89-8b27-2d255dd5040f phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:dc821ede-20fe-4173-9e8e-2264fe63d2ee phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e9653843-491c-4fd2-a43c-b40b1dc280b4 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d8722505-3e78-4a64-8a1a-b0f80edc5e7f phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:32bfa93a-037a-446d-b5f6-bd90ed5ec45e phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bb0c1313-bdbf-4ebc-99cb-fd392d967d77 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b185971e-331a-4233-912f-27a9f0ee6cd8 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:61afff18-2a4c-439e-bb45-8eb9e99a7818 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:abcd0ad9-d39f-431f-a1db-ecf567f124a8 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f7ac357-5547-4666-9322-42f816b916c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:750caad2-7527-4703-b978-b613d2a8b4d8 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:28f9c245-67bd-440f-81eb-3e2eb6ffb280 phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:5f73f007-d363-4c1a-8c29-e51c4dcc686c phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:91791b9a-5129-43f5-93c7-c7fc714baa86 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:6ecee7f1-c4f4-4a0e-ac72-6dd9ad67a06a phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:cac8cc6b-6250-4037-8e32-39df8cca21b2 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9707e923-8cdc-4c1d-887a-7cdbe394fbdf phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:776628a2-12a3-4476-9757-ed6d8f05590c phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0e643ba8-fc80-449a-a0d8-78accd78ddb1 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d72aa7ab-3174-46dc-a51e-1df27ae3d3f9 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f4c968d7-653c-45e0-9f56-61d32e182c62 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:27f877e0-ee57-4259-bcfc-09f5d0cabe03 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b83ffec9-beac-4685-a8f0-ab467b56ebcb phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9d29143b-4e7b-4a10-a5aa-8b5e461c3322 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:19c26fe3-41e9-45e4-a2a1-a9e460f1d900 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7a282ae7-779c-4345-8fd8-c19aeac395c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8998f464-ce26-4df8-a1c2-d3f3d57c1f83 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c0811b3a-5dc7-4fe2-b55a-11d37d6538ec phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d4a47c14-cfbf-4381-9191-7c9131e4f8fa phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5a260eae-735d-4df1-a8ff-563cc9a3a348 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:246a225f-a59b-41a4-8ddc-bf3dd4302b57 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a0ec8235-5f8b-4886-b3cc-1f6b50e4b8b3 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de13d516-f363-4164-9c21-32e58c4bccf8 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a44b015-ee90-4274-aa9f-dbfaa4943071 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e93e089b-7118-4e50-84dc-9fbb14049176 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48490507-103a-4225-80c2-16dbcdb708ef phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:04773afd-9924-4724-b8eb-f6e420af30a3 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a2f0ae07-d3f3-4875-92c1-c0cc52cebb5f phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:52346c00-e71a-4bfd-bd18-36d3a607d801 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:262c2c73-5d5c-4bcb-89c5-18966ebfea59 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eef4d4f1-7df6-48fd-b781-90b7a8393bf5 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7b5ed31a-dc14-4c73-b0e9-d5e67761ce61 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8be16e89-ee83-4830-93b3-0899e48078bb phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e9d0c61b-810e-4764-b552-deac596fe905 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f6e8d16b-df8b-4112-be04-a72e796913e3 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:35ec7060-f3c1-4270-ab28-4763f6acf532 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d4a8c245-b1da-4247-bab9-8a0ea60d3293 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48934d28-5d1e-4db8-8232-f48f4d306890 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:90792030-7052-47e1-ad0d-0ac2c12f38c7 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7daa0826-c77b-4ba7-b31a-a5ce74e76008 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eb62098b-ee69-4a8b-84b9-870dbb315f19 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:33b60b34-29f2-4329-b00b-7a9aabc16c21 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:54ba42ea-86b6-47b2-822d-80d65b90e152 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9f701e02-e95a-485c-bfc1-6fc1b7ba3b2e phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8bee9750-a8a9-4c93-af05-a711913c8862 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:977e9ff1-dda5-4826-9842-bd764e9f7ef5 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a068a7fc-e001-4a55-9b8a-5cb8f69aad77 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c0118e6e-bc49-40d4-b024-40d2dd3c2340 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2a5dfb0d-1565-4d68-88ed-f1c232089f7e phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3923513d-e56c-43cf-ace5-2c56d91a2bdb phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2cf303d5-d6ab-41e5-98a5-c50f96fde90e phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2f2cf255-b2e2-496c-8be4-6c38848861c3 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:9eeb8b59-10a7-4cc5-ba62-0ae8417625f9 phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:ce6a957a-49ed-4261-ba55-9bd1c5761ba4 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:af413213-cdbe-4175-b2d2-841ad9c641d1 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:05972b35-d071-47f2-af79-790cffbb01ea phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e450552e-5b9f-4459-8b9e-8a1134e1d52c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a74a2794-4ab8-48ad-b967-4de6a2ebc2d4 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:af9bbd63-8260-46e8-9a6e-cd54e03fdbdd phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2ce6fd4f-da38-4fd2-b335-001a620a3827 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4fcbcb64-cf09-4083-ac34-e0f002a6c83f phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f8dd4f16-946b-48a9-babc-a732364d641c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:315e7c5f-3c9b-4b74-be67-6f02da0c6420 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c08edbe6-6de0-4f57-a5c9-0e60cb595093 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:920950a1-a47d-4ad2-88df-5ea44967e061 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f8e3044-2d59-4ce2-98f3-77df825e5a0c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6ed0b779-4626-4b4a-ac75-1bc162acf06a phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2c152b13-6502-4744-afdb-d151c0a59126 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f7198e1e-d9b1-4fe1-8fe6-373bfe6f15be phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:32630929-0da9-47d4-90fd-cc41c74a0f01 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:548e2fed-5b41-4ae7-a7ce-074fff6ca03c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f2005285-9e83-45cb-bc13-a095aa0349f2 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d7f78fc0-27d4-49c1-9128-f94a3605d336 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ed3a8fbf-edb1-467d-8fe0-dffb0298d1dc phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:90b0b9d9-25ce-4e51-8510-37195780f2d3 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2a7dae8c-eb78-44f6-88dd-b42e80ac270b phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5717bbf3-1d19-47fa-94c1-da00d13dcc3c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5b4d5eb5-1f0a-4818-b50e-1e21bfd3b0e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:86b13975-faa4-4812-a252-15faaddea222 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fa1da892-64bb-4c16-9cc3-9ebbb3731c2e phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:02831b31-0592-4c2f-99ce-69fdbe5e1f7c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:70d3e993-b73a-40c6-bc21-3a33eb176ff9 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:247ef20a-cc52-416f-8385-cec86815584c phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:90ab81c8-9df1-43e1-a6f7-98a35b9e0e91 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7bf979b3-99cd-4602-9671-bb94479ef021 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bf23b0a8-20f9-4211-8f23-813021a157df phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:240892cc-20d7-420e-8a30-d045e457d4d5 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0e001b70-2267-4f82-96bc-99bb8b472136 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3c239dc9-f38b-4174-8ee9-816c1b21d80f phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:94e5a0da-a60c-4223-b624-a2f46fdd5c3e phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:44d63a13-0868-4146-8cf4-f4f136d4627d phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:089cce6d-e7af-4a67-b450-28f877beff82 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:93679b6b-0525-4b1c-94eb-fe00788229b5 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:194fee03-dcd8-4627-b61e-298fc4b76cb4 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e998d20d-c3e0-4ea4-8b11-3e3635523123 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:50194fad-aa5c-474e-b5dd-68a19d3dcce9 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:56a2ceb8-04de-41df-9560-d7fa65546a09 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ca08ee3-6b43-4b86-9f54-146578d0bafe phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9973ad71-dbdd-499c-b07e-da3d209e9119 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5514dc58-8193-4674-9ba6-d090c04fe516 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4211c103-7774-4eb3-8138-f21369c31a70 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:88c24b5f-c636-4228-8e64-5abbe84aad1e phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de0ea182-1287-498d-8918-2d88dbb447c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2d4ae064-1c41-4cbf-8596-1b3e2f2c39e5 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d59f9d72-c417-4375-97a6-7b28da0c1fde phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:26f1b368-80fa-4215-8395-27ac9c806ee7 phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation P8M infores:phenopacket-store PMID:36586412 uuid:d962a230-e3ed-46be-910b-c3031f3ef4ca phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:a982fed4-b1ce-444c-a035-61b1ff663342 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:79d16a31-c8b3-4c6f-851b-6f4575ca4521 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8ec09e89-0e5e-44c0-8ca3-eaa16a192338 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f62508a5-2eb9-43cd-b419-182759ca4584 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4fafd10b-2450-44e5-8956-5227e9ee2288 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:36c186d7-440e-4ead-8431-53b792386337 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:7d3815a0-f636-4f3e-9090-6de0ae2e46ca phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d998e3b0-d9b3-49d5-bccd-0d54f1a2eaed phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:236c7920-2908-4451-81e9-f488fd75a145 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:eec4b7d1-d44b-4b24-9b74-34a850302d64 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3e0a30b1-a31e-4c23-9985-4c16faa92693 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4687479a-46f5-4fd6-a24e-4d2cce593962 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9c07663a-aee1-4c53-a710-0fd1b983e67a phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:dfe2d9f5-e30c-4429-8fca-07117f7b1bdb phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9224604f-0b98-4c75-92fc-ae80a6019803 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:628d65c7-d7b2-43f1-bfab-07f44747f765 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7f9539d5-c22c-43e9-ba32-489bf205be00 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:10623a44-5da7-42d5-a7f9-3ee4dd478d88 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:857f3ffb-f5da-4d2b-a54f-ea4a15c64040 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:835f1c8b-ed5c-44a0-83c0-cee1ad786c09 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c66ea748-ca1b-4922-9081-c63dabc63e2f phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:60222f5e-be51-4d0d-84a3-caa4c528dfad phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b41f2976-191c-4201-9d2f-0c88c9413061 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:84c0dc6a-7af1-4682-b3d1-a28801aae900 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f61c6df-7638-4187-929c-b52e0de267fd phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0aed740c-8e43-4a76-97de-18483fec1bec phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3b3e30c3-f845-4bf7-b304-168e46aa363d phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9d6bcaf2-8f8f-42e4-b610-8a90cc1fb91f phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9d7c86da-e873-4954-b678-1b4f9cfaee42 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0aaa9ad4-b140-41d3-9b10-e4c3204dd536 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3d1031e2-863d-496d-9008-f608f80e0796 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5d2178c1-1746-4373-a183-251a70b74084 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6d3a72f0-51bf-4137-8945-482fb2abc26b phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9a498a02-cfef-4381-a2af-3cfe5f78de0a phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c6c1b61c-20ba-4962-be42-fccd0383cc87 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ed26512-c8a4-4e28-b609-cca60ca600f1 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7420533c-b5c9-47c1-b149-853af0a9125c phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9435d824-b82f-4626-8305-768e4490235a phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:de2b63f6-50e4-42f6-b1e8-aac38315d4db phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:092fc14c-cfb4-421f-a971-2bf562fab7db phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:45690562-9c16-47c1-b826-d4f60f4e80e9 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fbc901cc-7a33-45e8-baac-f1ef0bfec472 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:51a75814-b96c-48e4-a73d-3fdbf040370f phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f054f386-6379-43a9-8540-41358b0f6521 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6428f094-b2f7-401c-a2fc-c54d9753e489 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:17c0e9e2-6691-403e-980b-185b3a06f2af phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ca7fcf63-4982-495b-8441-f8bfe80fab1e phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2036d4b0-aaed-4dbe-88ce-38a2db9116f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d2e3bf1b-d3f8-40c3-8e6b-cc23b760971c phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:af83358e-4e99-4991-bc47-9128999d431f phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1622c80f-6b03-497d-b613-41325da9551f phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:23f8bdbb-8a62-44be-ac88-46c721dea376 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:89004abd-150d-4b79-9aa0-36f162b34247 phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:3204f37e-19c6-43d1-bbcb-411ec0c95c9d phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:b972db95-84c2-440f-b67f-5bf7ec475969 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:3f4c4d6d-52be-4ca1-9d22-8bb0a73d622e phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:43f3b335-b6f8-49a5-ad7f-02d826664d3a phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:6a1ae564-9342-42c0-b069-43e6adcc78f4 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:c89f002d-b498-4a5d-b4db-75aa6c45c72b phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:f2628ed2-177e-4872-bb5d-4b7e5d41cb68 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:c4f1c555-c6e9-439e-a51e-7eb27062adfc phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:dd499eb3-034a-4058-88dc-236a042c9903 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:1701f16e-5a15-44f0-a70c-40e26fd1a3fa phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:080bd676-d59f-4d02-89cb-1d8fb02fb349 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:40733bb3-9b83-4505-a18a-e6188ac0cdc0 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:dfa8f593-01da-460b-ac78-2cd9cdc65b12 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:8fe6e5c6-d3f4-415e-93bd-fec938b16590 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:7168f2ec-086a-4449-ad2e-fea284017699 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:f89d356a-2716-4a42-8ba4-87b37ba5354a phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:087d1ea1-730e-4f52-a4a5-2e3f0d770451 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:f7ba00bf-e741-4683-a971-cffb2426822c phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:fe7f0899-eda4-427a-81d4-0fa7d9169bbe phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:5e2273a6-76c2-4d9f-b2ac-78d9d613f51a phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:b296a5c1-d087-4696-903f-22f434469e14 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:c0af58c9-a76c-4888-8384-a1e35c8c1a26 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:a89c0bf4-58c7-48f4-863a-e80c4d7575d4 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:b994ade4-64ec-4773-a34b-1105c7818c12 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:f08c37b7-ce2e-4f03-af24-75ce05fbe5d7 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:1f604ed2-71e1-4fdc-92bc-dd5e06912c39 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:25bae6c4-2e4e-43cf-957e-d0335a672e8b phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:de0bc0a9-6ec6-4642-8502-ce44f40d520d phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:2ad491de-0145-4ad7-8999-8c50124d9b53 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:8fb5c488-68c4-4b3d-b99b-b23fed573ace phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:6011447d-bed3-4cc9-83b1-061218af648b phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:fc9d1b77-2f83-47ee-8265-afd993185595 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:ddf358ca-312a-46c1-9899-ae84f1770b64 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:f5d25d2b-4c5e-4440-a809-b5a37d2ae05d phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:14aa5ae6-712c-4572-8957-d51b5f3db790 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:06eb0410-05af-4686-b3de-138aa6cfb8c1 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:4cd16496-709f-4d05-aa36-1f142b48d088 phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:8c7d1663-edef-40bb-8851-6576ca3f143b phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:547f32a6-b1da-4741-b4de-53c04887f059 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:630db9a0-1cb5-4770-b07f-5ec2ee23ac97 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:882a41ba-6cc9-4820-9b2b-378b60458892 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:d4816aa1-ba7c-4c4e-8586-21a0f187596b phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0bde9cb3-e511-4418-a8e7-1f1ecd95285c phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8e0f7846-5b8c-436e-9eaf-1f61ca3d4a72 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ab312e7c-fb53-4843-8c4b-48f726d8cb7c phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:14c08385-49a3-45bc-95aa-a45770e933cb phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f7e3c706-3d29-4680-81e0-4af9737bca32 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:07005488-4ea5-4744-9dc9-50e3f9b81b03 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e4f19bd8-ac9c-4940-bce0-2e5404519e8d phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cce6dd5b-c558-41ea-9f35-dc5af9abaf3e phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8ef2bbf3-00f6-4d24-9ec1-fd6a41f3badd phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2eb5b95b-492a-4612-8bba-474ed08862f6 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:80f81448-a824-4238-926e-6438b0447da1 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:89bacf99-af04-414e-8ddc-9c883d0ca709 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0e23bbbb-ae4c-4c9e-ba19-ba230b01222e phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1caa0f94-764c-4f0e-b2dd-022038339acb phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a8958352-bcdc-4f0a-8e9e-c791c695c9f1 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b3fc441d-db14-45e4-a0b2-c8ef9cce9673 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4bd698f2-66df-4601-ba6d-fdb1ceddb4a4 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:97d1f9bc-a630-4de1-af7a-2cd498aae433 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f35d4de-d29d-4454-8384-44a28563f4a8 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1bbe9893-7116-445e-a73e-48fdbbe51f50 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:76a409f1-e820-4eb7-88fb-f7a7b7f74eae phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c5ca1f2d-0a75-49ff-b486-e232bd0b4aef phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f074ad92-4f9e-4263-85cb-f89e661b3b7c phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:46bc67c4-663b-4b08-973c-5f9c48176a47 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a5b140ea-8f43-4a29-a3b9-4a153404b9ce phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ebb440ae-2412-42ea-8130-8446e69b441d phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d9375d93-d64e-412f-812e-283b46916c8d phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a6591d95-aa09-4aa1-a743-b89ad63b8d57 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:394112d2-997f-4964-a620-99e927d356d7 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f1e197a1-131d-453b-8400-9d1876175eaf phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:84ea5c42-c4f1-4547-a2a2-20d8195d3406 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5e20c187-ad82-4dbe-8dfd-b32d1b3dae82 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1c98faed-34d0-48cb-a227-c674bcce330e phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ccda0ebc-d75a-4b09-bacc-f56e81e9b38a phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bd68139d-1d91-4469-afaf-d5a3f34caa8f phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bfe5d450-2b39-4b9d-99e9-47a3dde901c1 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:652c2f58-b00f-498f-a1ed-4b55e67980a0 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f247515a-5f84-4386-afcd-3a8220d16e1f phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0d80f6e2-e31e-41b7-8786-23d4c320b746 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:63cd296e-7c4a-424f-9783-d496ae0fb3a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:93da95c7-290e-43e0-97cd-df4762955afb phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4fd2566c-fce2-497b-8b22-1b8e0328ca46 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1ff9278b-109f-446f-aae8-cc0819c28cc2 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:54038ff8-646a-4b08-812a-70ef35ada80e phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b6d832bc-25b0-4990-93fb-7eab8d6b33b8 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1f87f82d-fe77-4321-9346-803066c941ff phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3f29e574-a0d3-4c57-a195-f3876d436c1a phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ecbaa126-004c-4b39-86ed-0c6e071005b4 phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:b410780c-b9c9-4a8f-9ef2-f9cb74a9e49a phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:046948ee-ac8f-42b6-8c0e-7396d3d88b07 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:31330cd0-7222-4e1f-bfb9-8672092640e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a09f931c-7b84-4997-ae15-5dd46ea63884 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000954 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:5ab0b5e1-adc6-484e-aa6a-8c27404eb0ef phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:dc27dcc8-d2c7-4e80-9e1e-25816243abc3 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b7d695b0-d133-4a6c-b45e-e34076b77b12 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:7362f282-7018-470f-95ab-b9ceb90c2334 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0d5f7846-1296-42bd-84f1-8f0147d280d2 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:2d418391-9938-4320-aea4-f9e1fb5d43d3 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5b69db95-fb6b-4e09-9bda-f8775d804991 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fe6ff2f3-f42e-46d8-a4e9-6c5b7f69236d phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:44148309-3d80-433a-bfe2-839aeb6382a7 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fbeda349-8cce-4c55-9b3d-41e783a6d420 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:fc9dfec4-1761-4972-8551-d149d7d8db7c phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:69757306-bb4f-4d03-ad12-d6d89bfa7547 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:90a9c929-96aa-405f-8524-3a917eb52581 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2c609ca9-938b-4fe8-af4a-f9ef379b7040 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1b9b947b-3280-4bed-8e07-ff552aae4225 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:99eac433-97df-4869-a817-c8486b458673 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7e585dcc-c597-4d91-915d-f57154f4776b phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a2c08fd8-2188-4500-a6f3-4fed4905bc7d phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2dbe7aaa-f9a2-4c9a-b06b-2ef73be5ce16 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:680a1f3f-8616-4bd0-82bb-f0ecba4ef39a phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:da5e2e7f-b7e4-419d-96e0-9f7aee0975ce phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c28772a8-cc6b-4c3c-8c97-eb03baeb9756 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7a4f3a0c-4a8b-451d-bac1-8cd1369e8be6 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6852824e-bd03-4391-b5af-86d24f3150f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:57810cb3-fa54-4474-bf70-aeef3837cebd phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c7559b34-3889-48a8-adb1-6dff228fd106 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:faf17924-62ba-4022-aacc-6dda492bd02a phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5c2892cb-fc1f-4edf-90d6-5bfe5c5cbdf1 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7f6a7bc4-ca83-46a6-980f-c42f68764313 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ed6a35c2-eb22-4f68-9a01-145da21dfcfd phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:568d9c22-2cda-4b19-8696-77143493c878 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c2f8ac7f-7450-4fab-a603-ef6507c7235c phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a4a6ce0c-4685-4126-a7a2-fe180e760311 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b8f8e940-42b1-48af-979d-7a6f5706e7ec phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c88be6b6-3387-45c8-81e3-76ac2ef197f6 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:857061f6-e045-4d22-bdba-e54222c8c7f4 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:81c8f6d3-3efb-492a-9132-a3505271ae55 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:56569bf7-85ba-4791-a599-88e8f79c8ae5 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e8ce05c8-c319-4362-b941-be738ea19e50 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a3d7d092-0113-46e5-b5f5-77d2a270c975 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:454e43fa-97e8-4b23-9ec3-3b8f9ee2f908 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4b6c8944-d910-44f5-9ca8-99c885e44d13 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5a2679ce-2453-4ba8-a2f0-a40c10ad49c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cc851dea-f793-41a0-8fbd-a4dbb518bffb phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7b6d060-627d-4755-81f0-982ad0126bbe phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f627bc9-7ffe-46e8-924b-61482d0ce500 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1c21e6fd-d0e4-4a3a-959f-e65e9dc67b9e phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e751c7b7-c28b-444e-95d6-5f62b3239810 phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:95535b55-5717-4346-a243-792c4c2b3cbd phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:d0cbc82b-789f-40c3-b6cd-2377cb3d2738 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b8b20791-08d5-46bf-a740-a8c90d5e4e12 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:278fbed4-9632-4a46-9980-cd5f8a78dfdb phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c9a65676-5813-4bf7-81e5-a266af62d6c5 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b470dd5b-1e84-41c7-8bac-6345c9ec77e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c0e5f6eb-db05-4935-b2ac-420a533e1e4a phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8fc4ebd7-7033-4709-a731-7e5094f2131b phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:27d4e847-423f-4e40-a0d1-7690e1cda27a phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:2684e6ac-db7b-4902-ad1d-f60cf73490eb phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b7df6259-ee7b-4267-9552-115bb7bdf618 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:95c7e75b-3adc-47d4-a4e0-d23ae0de6045 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8f445284-e12a-43a6-9f5e-ff63250bfb3b phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b837c575-de1d-4d93-8669-558a06caef10 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7b729a6d-5c6f-434c-911f-63622de5a4e9 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:09908926-417b-4b57-93b6-a339bd49e0ad phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1188c901-4a70-440d-912f-f0891a215583 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ae153ee0-2806-47cf-8ed5-0d266af6906d phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8ce50b7d-07f2-4d44-8796-a0882ab790f2 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4725d318-f591-46fd-85e6-49a1a0672b58 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad613732-b87e-41bc-9353-c22b1973cd22 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4eb2884c-bcb3-4b58-8d55-c4f91539f8d1 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2f533def-706d-4205-b6cd-39eb6d204546 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:62f7e229-412f-4b16-90a0-ca6f415e8cbe phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d94f3ea7-d1b9-4ea2-962c-0cb6d75968c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1f5c0467-fd77-4622-91bd-05421d339cc1 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:72b55683-cd93-4d86-8e3d-b0d1f2796c47 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1ea0e3f7-c4cc-44f7-ba8c-dd5fadac1608 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ff5a5ab5-bfad-47e1-a027-b17abbb37df1 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:13af9b1e-ef45-4ab5-b0aa-2431797c4cdd phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:99f1e13c-e24c-4b03-adcd-a943589cbfa6 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:222073ff-006a-41d1-bb01-fa3ff940c4a4 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e892941c-ad90-4474-adfa-b603e19272a2 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aa233298-8852-419f-9ef8-293dffc6d46e phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d1a29901-9029-45eb-b95a-bf6683bb2c8a phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:42670c8e-fed9-4e68-941a-b6665075861e phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3608a60b-ad52-46d5-9f59-e95e184895e7 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48471786-1d7e-4d8d-a23b-847824c17702 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1484750c-075e-40df-b2a3-4d7ac0cb9c22 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:04e68895-1e1d-4f91-8815-4c49f80c1962 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ba595524-bd62-4e51-a451-90e4de38eed9 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0ae289f7-ab1c-4f2d-8aea-2adce7fd206c phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f1cabcb2-7e52-46a2-8609-5c8f4d39565c phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0bac4b77-d973-40e7-9979-59d8aeb7b627 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:131c959c-5c85-4dbc-b168-69cecfd641c2 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f4266564-4a90-4253-ad74-5dfdbb301f4d phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7031f42e-8627-45fe-9f86-fe941158155d phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bf3c63ba-8a74-4085-b218-fed495c40104 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:59d49458-cbcc-437a-9374-68a52cbf6f93 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aef69246-57a2-4d94-bd08-a6d3077dafff phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:25a9afd4-2364-4a6b-afc3-60c89966bc40 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e5dfa69a-eeba-4b23-83ce-c66a6eb79818 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f989c5ea-f261-45d0-8953-edf2a13c60b6 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f50abb5e-d856-467f-98e2-7589af127f7b phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:548a91e6-01d6-4a3d-934d-2c26f407aac8 phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:05c4f928-508a-4bd6-9110-d69a41bf9d53 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:dc27316d-40d7-45d6-b208-a5efdce52c0f phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c5e413ea-2752-41c7-84a1-f57e3520f29c phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:06d8ea79-357a-42e0-8490-c0f00c83a88a phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:3a12691c-1615-47de-b12b-bd1c76004cce phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b9fef7f1-a6fd-4fdf-9bb6-d8a89a994401 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4b15c6fc-b6b8-4742-a5bf-8caf416eef65 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:538f8037-345a-46eb-924a-94f7217b4216 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:65a5ebc9-52b7-487c-b02f-8b8f38cb2e30 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3aa76929-36cc-4e1f-aee7-6b797fc221ad phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4c741e9c-79fc-4554-ba0d-0ba6142682fa phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:750c11f1-cbc8-47a7-a354-ab09bb018a32 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:99421bd2-24a0-47ac-b3aa-bbd4db87b7f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:036bdfa9-169b-4eec-b655-8ab4fc854b81 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c0c93d72-77cc-4876-849a-3fa1279ea837 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3aa156eb-b892-418e-8b88-f2fe8acc3695 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c3d6d781-219c-41e1-90ff-93440ec3f796 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:58208673-c7c1-48fc-a6f4-a8c506a4395e phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f77f2f1f-274a-466b-9453-b68e35211149 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f1b40475-3ef4-4464-b96a-0e873a998a3b phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7307ffd-54c6-41cb-a1ee-be9aa7fc4ad7 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:422416b3-90d7-43f6-a03b-b7e76f55ce90 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:be5b1b0a-1c98-4baa-9b8a-ebacc9fac608 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b89c9896-985c-4569-8c56-86504311492e phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:027a998e-22f4-4a92-bc98-86a3c019ac10 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:720bbfa0-16f3-4517-9dc0-3bd2b10b1a09 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aa65f761-d27c-4f62-9d22-dda7ed56a567 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:989951de-3669-451b-88db-cb7c21c7e09d phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8449d42c-ecfc-4ceb-a361-c14359f835d9 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9380b250-5eab-4d6f-be4a-922933e5aecd phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0a42ac96-9273-4413-94bd-2762f30c2319 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2c39f626-fd84-4f44-8b8d-8900848e463b phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:476e0e1f-17b8-4b62-b91e-fa96cc6fb0af phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:bf8ef2de-1d5e-4bfb-b9b4-f354882bf240 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f40549a5-313b-44f6-af73-0970ea62d9ec phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7098a151-730f-4f09-b09b-978a977b17f8 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:34264f2a-c22d-4da3-aff2-4945cd894c6c phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c138c6ad-1bba-4895-b7dc-6380662d852f phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:68a03e4f-5bfd-4e4b-8726-80219bfa9817 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5de0a742-5419-4349-a386-09dd93f0912e phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e065e989-5ce8-4c15-a6a8-b6d3b3a150ac phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7e678363-b5fd-45a3-90f5-fb3a5b754240 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2ee8d84e-bf7d-4663-88f5-5207cf977537 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7e1c2115-cfd7-4159-a973-da270adf335c phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:da21c739-d17b-4a52-b6b6-2d3517a44ca1 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ad942bfe-f6a6-43df-aa2c-a65cf76e77c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4cc48b21-58c6-497c-9426-ee3b4437e0bc phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:25be2cb4-3d99-4140-90e5-b3c2d516b895 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:006c36d3-0ac6-45f5-93c6-9a2d2fd56c43 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4333d584-e0b6-4079-b6da-04d19d17628c phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:402588bd-e55b-4186-b73a-d59e6d9f93eb phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:53638528-2ac8-445f-8aed-e61be3256994 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:dc3d9d01-89ed-4378-8a67-92f16ff17602 phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:ee04fb84-06bc-4fbe-89f6-16384ef97558 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e1d21ce6-8fc2-4681-83ca-0161c46ba4a0 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:dd127c05-1a6c-49cd-a031-ee9683c8ed39 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:392cac5d-a432-47d1-91b7-58f3199383e3 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:cf5509de-f5d6-419f-8cff-a220d0958c18 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:e873fec2-0b43-4dfe-bdcb-d39c11a9e23a phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:8e669466-75e0-498d-a3cd-1b745cc6c224 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:1d0efa26-d6ed-4672-94df-2317725f2846 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:0c041d93-481c-4f23-b822-252e82b1ce0e phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:5d0c3d95-a821-4d10-9026-ad67f552fc72 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:47044355-9676-4e5a-8f10-bf25a56277c7 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4202b83b-e920-4c52-9e73-ceea596bda4e phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:b6f5ba6f-cfe1-4711-95b4-3f2338364498 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:3973185d-25d0-437b-8640-8f72b4f87c3b phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:23a04db0-5da2-47d1-8c42-c9ffb65635f5 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:953f11aa-b020-42a6-8048-73f0e1240170 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:533fa56a-8682-4c26-abf1-380aae971b9f phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ff6b5cbd-23b5-4509-adb7-36fafb30c470 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a4aa93c3-1bd7-4c4b-8fff-8437e5d4bf6e phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b239db73-5cf2-4d43-98fd-24a8462fb8bf phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:6de174b2-9cf7-45f2-b8f3-93882492d653 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:8ab80d26-693b-4dc2-8c3e-6cebc01d37fe phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:48112278-7523-47a5-84fc-83d3e1786e58 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7cc1a32-ac2f-49d7-bcf5-1928bd59440a phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e5632d54-21ef-40d3-ba7a-a5faa76649dc phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:52ba8357-8245-4745-80e2-a88dd666ba03 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0b08c22f-08e6-488b-83e1-9ae6565cb483 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d059c969-ace9-45a3-88c0-b270af2c1bac phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ea61645c-e643-4981-8ee8-f1ea5f707a5a phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:469db45f-5b4c-4f83-a1f5-b22d635b1303 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:00e2e06b-e468-4533-96e9-59c670567aa9 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9329590c-e064-4b8d-906a-ac83a2640b0e phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3878aaec-6d39-46ae-bbdb-eab998963948 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:60ad62e3-9520-4755-99ff-6777104d4437 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0008936 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ab234eb1-f36d-495d-8d22-6869c37070ed phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000473 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a492f57f-fddb-409c-a7bd-83192e312e0f phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9a901eb0-fd8d-475e-a2b9-b30ff27de6ce phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:17fd03d9-a1d2-406c-806b-58df55c823c9 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:890e4f6d-8474-48af-bddf-03e0c103890c phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7d71c050-b425-4513-9912-32797bc55e92 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7abebc7e-5364-40b8-bd86-cd43511650ee phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:1beeb033-b82a-4aa3-9ec7-ef3bd22850e7 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d4263447-6137-4ee7-80fc-0e4df496496f phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:25ffd9c7-ef70-40ad-a390-bb884ba28108 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a433e2fe-4bd2-4c66-891b-337ae8b12107 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d0efef5a-c8a9-4484-b335-dcb18e5497b1 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4f57d703-087c-4e69-983b-cc1a75374391 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:89bb6d0f-97e2-4c5d-a3f6-3d12044eba00 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ca9ff200-60f5-4310-b61b-a5aab2c8833f phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:828a538a-3733-4114-a75a-94aac6c38a8a phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2205266e-6a7b-4aac-bb38-667610dfee3b phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:49524a7d-92d8-461c-a7a7-b0cd2eeeef86 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b309636-b21f-406f-89a9-334a0827c357 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:0cebcbb4-11f0-4fe7-8a8b-7615cde25ab3 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:84824624-9f58-4d4f-930c-9677ee592cbb phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:64932247-f5dd-44fe-8bac-7be65df2bd4a phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:34a45326-e61a-4572-88db-595acfb6403e phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:37db19a1-4265-43cd-b0e9-239a09e00795 phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:8237af84-3209-4239-b100-add5b2ccf45b phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:1336a8e8-ce99-4d38-9639-bf5db302ab26 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:ed5a2f20-58a9-421d-8b8e-c65db1aec83c phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:5f6d089e-272f-4a81-a453-df23fe00ec4c phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:f950031a-301e-4c0d-b17d-43a9ea6ef2c9 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000708 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:922f6d7f-0912-431a-b9d3-0d0205124003 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4d062d82-2742-4668-9b8e-456a0e78526d phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:9994bc06-a888-4cf2-98f8-2555a1f6194d phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:c8317dad-feca-4d7e-b0c5-515ed76b02ec phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:a2937fb0-6c5f-4c2f-985c-805a2856d908 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002808 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:197029b8-ba2b-44f9-aeee-b64b3fd89192 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0004322 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:14eddc5b-0e11-48c8-b80c-595a5f9947e4 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0003067 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:4a47d094-4e19-4599-ae8a-a9b27d15c2a8 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:36586412 uuid:097637d7-f6a8-4ed1-8902-ae4bab8590a5 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:b1f4ae2a-8794-4321-a4eb-fc99a72f0fe6 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d8344861-6a65-4ba9-9350-86f8f1077562 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:aca9753b-d451-4db9-8690-694b391b6c5d phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b66ad28-9f70-4992-b481-173e510ac07f phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f7bcec3e-9956-48a6-a5b1-64713aa8e671 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ab652743-3059-473e-9a47-efdfcf330e2e phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e7b01462-81dd-4084-8afc-28cfb51765b4 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5f86bc2f-2afd-44b8-a481-315557879dcb phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:becddc2c-3786-483f-8981-e231e9841df9 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:2b5b8e9d-18ca-4832-a4e8-c5d077b3d032 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5b2e56a5-f092-4597-a834-1dacf71a84c2 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:ce276049-5998-42b1-a84d-2eae58f114a1 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c828d338-18fb-4d72-9bee-67900c1d674e phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d59bbd94-9286-4fef-8231-d7c57adf06c4 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:85659af5-0ff6-479e-87b1-b4cd14323f34 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:31cfc8d2-a679-461d-bd68-56005dace700 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:179c966f-0c88-4f0a-a0b7-45ac67089950 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:9fdb5615-2384-42ed-af6d-a05bbfe2c031 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:d35e0b13-7e16-4208-bae0-62259442b8ae phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:86254e07-b6c9-4c37-8e29-30cbc9e7bfc3 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7418de5a-42f8-45c5-a390-3e306b8e153d phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002019 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:51dee871-721a-43c6-b284-e48e96296ddc phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:35b62657-0889-44be-8002-5a5f6c3b7daa phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002579 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e1ad6adf-9e1d-4e9c-b0a0-922609cd7830 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002046 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:439098f9-4984-4e75-9522-645f3a57c23d phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0001627 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:56b25a29-58fc-48a0-8af7-c75e7d6aa737 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0001737 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:5aa5a00f-df7e-4b17-8547-5284fef116c6 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:45feb56d-ba7a-45e8-9ae1-62d7e80cc4df phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000488 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7ff71089-e160-4ace-9e6f-5dc5630a9740 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002580 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:50a5dc0a-bf1f-44f2-962f-13ad425a5aa6 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002751 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:7b19bc72-7e62-4689-96b5-e017749d5f19 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0012531 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:e1db4b71-3826-483d-8e51-47ea049421cd phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0012378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:a5dbd5be-2d0f-4b13-8fce-fdf6f810755d phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:875e0b51-cd57-4e28-a2f5-73b9cd3a94d0 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000107 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:89d0e9be-94dc-4d8e-8e84-498bad9da2f2 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000086 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:cf60532a-89d4-4ec6-9f2d-5fcf195c77f7 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000062 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:c2a36063-e76f-44ba-8f79-7db8a6bbdbac phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000805 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:19fdacb7-4157-4a20-a338-0793966b6cf2 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000076 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:3ac441df-fe06-458b-bf1b-b82151658cdd phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0000126 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:f26e8ab4-a4b3-44b4-8af6-f57b46a9d05b phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_phenotype HP:0012330 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:36586412 uuid:4d188bc4-f756-4c8d-acbb-1960240e1d9b phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:e8c0ef2d-0e38-4325-b9fc-592ef0066f34 phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:36586412 uuid:a5c87ab0-733d-49fa-bc6b-74cbeab6de56 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000378 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:4d7add64-5b99-49ee-a11f-2bfce78f2e56 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000047 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:1834d2d8-cad3-408e-a09c-8523d5c7dc4f phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:cc2248cc-27df-46a5-b0a1-7a45f7a54ac8 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:5be2e1e0-1afa-4dcf-acb2-11dbe2e55d1d phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0001659 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:e0ee2102-6d28-486b-a34d-27e2653c9633 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0001650 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:7e77294f-06cc-4e82-b16f-b8a29e9415d9 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0002360 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:8ada3935-bc11-4c28-8753-3710e3a818aa phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:2d912847-70b0-4569-9ebe-028f5d25475c phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:cc863afa-6fe9-4b1b-98c4-6e0b80ea5878 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:2fce43e6-f1cb-484f-b061-f1789f4263f5 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0001518 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:24721225 uuid:6726c44a-41ee-407e-b2b9-feef155c6495 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0011800 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:1cb796e0-2e5e-4739-a6ee-53885474f74d phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:812378da-8924-4ce4-b413-be27f3378e90 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000325 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:a0dfdf3e-80d2-4b72-8c9c-0e37d9023cf7 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:dcf2f016-5208-4fa4-b03c-6cec16b531d6 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0009890 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:475452aa-c40b-4970-8c31-850118f81cae phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000278 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:7c6373d6-9fe8-4cff-887b-7b0bdceaa104 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:a718319c-b066-412d-a59a-49903ead19a9 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:62e1dd48-1eec-42e9-8b9f-b5a151ee7635 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:2d375790-f7d2-4f81-87bb-9106df2fbd20 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000637 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:9515e0ba-cdfc-4533-a9b1-55e099adbe2a phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:ce4318a4-da50-4585-b014-a5c1d2898380 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:0d68d00f-1252-46a4-9f7b-f9ccadc5dc36 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:5531cadc-6de1-4d72-b151-cd82b61b5942 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000233 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:cb13e7be-80b0-4ac7-a911-b3d3ba3d232f phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000343 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:6b22762c-25b6-4e09-a66c-687d38dcce87 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0009928 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:52dfbead-52d0-4a1a-a3e0-9dca1a11daa3 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:52d9b9a3-cf57-4e03-a7cc-a928fa967440 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:d69d633a-99b8-433b-ab9d-91f7fc26e83d phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0011220 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:05bb36de-9050-4b6c-8af5-d25df7406751 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000490 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:1db0f021-db1a-4cea-8d45-578ce62ae4ff phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:191f8498-3600-4e75-acf0-6ae39489ebdb phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0000085 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:0fa875d2-f3cb-42e0-a8c9-8b9233c5b03d phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_phenotype HP:0012020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:24721225 uuid:b045af88-0cc0-4901-b4eb-fbbd75afa130 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_disease OMIM:301111 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:c87d1da6-cc94-4b7b-8e23-590d7ff9d386 phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:has_gene HGNC:13054 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:24721225 uuid:d93f8a72-efc4-4d05-ac28-0c515cbcaefb phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:50acb548-0320-4e02-b294-6184153fe70f phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cce253d5-9e7e-4993-8fac-fd04f2d37c4a phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:611e1687-4d07-457a-9e00-85822617c0fd phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c543d30c-5ab7-4f9b-a401-f5a3e9f93fe2 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:50513c03-c33b-4146-b781-aef1ff058f8d phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7d2ee7fa-bec0-4fa2-a3c5-d3127701243c phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e3ebe4ba-ba2c-4b95-a372-80ba8d3979dd phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dba59fec-6784-40ef-8bc5-ce68ad652c6c phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d13f26cc-7301-41c9-8630-53ef467712da phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7d98989f-6777-455a-b2ed-28c74f51426a phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7510fa98-c746-421f-bab2-9715d30857fc phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9a0a30dd-3706-4a9f-b853-7e24fb810f12 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b3a55a05-2395-4dfd-9e2b-f27a858948f2 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4d1c5b32-d416-4bee-b344-e0802815d12f phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1268ae0d-acb4-42e4-875b-56d68c5bd754 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5d3aaae0-71c4-4dfa-98a7-6f2bc817f8c4 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:79e3d6bd-105a-46aa-9657-4295ea11a15a phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8dc8fa7a-f39e-4800-a2bf-7fc55e57cc3b phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:eefa04a4-434f-4598-a621-37188a5ea6bc phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:676620c0-5ca5-470f-a88f-be8800aeadf7 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:992c2091-9914-4b4a-adbb-623a5f07a22d phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e8937901-9bd3-4dee-bf3a-bb3df363bf2b phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9c1de841-442f-4eff-b50d-89f3ca900665 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:eaa16d71-dcd5-4b45-a644-97c490022ea8 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:53b76df9-068e-4eb1-909b-dbb6215e462f phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:fcf09a21-7bdc-4cec-b801-c08b0d174528 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b9342454-48f8-4787-ba78-0612a8503c28 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:64bf0dd8-fcea-4e25-9f1f-9eceecb24e22 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4ae3cd97-2e25-45f3-af17-87a4724b512b phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:2e258138-7034-4431-a5f9-ace03e5f8495 phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:0494d82b-89b2-4e51-90d8-729b903bdea7 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7a2c0c68-5628-4241-8d80-2229118321c4 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:364ef097-cb24-45c1-9c72-be5ed3d91893 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8544a59f-ef36-444e-b2c5-c8e819f45e4e phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ab8b3f39-cc02-428a-a720-950caf88a204 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:86584438-d33c-41db-9701-fb34de00c129 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3c8f667d-2d9c-40c5-ba6d-57fcedb66321 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9e28dd91-d1e1-4c5d-8e20-3af6c53a4147 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:dd9211d2-3975-467d-92fe-c5f6a82bd172 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:36d66dda-2284-4cd4-8fec-1a9b8c5cbdb3 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f5fde64b-23c1-41ba-a66b-0a86c114c6ac phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0a71f608-c0f6-4de3-a0ea-7b61c9f56748 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:da9aee91-d52a-42d5-af07-4acfa22cbe2e phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7c521353-2114-4ce6-9c0c-07d2de117d89 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:295ff78c-9963-4966-8a08-ce89606d8a01 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f344dc28-4a2d-4915-9e68-2220164452c5 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8c4350d3-8881-4f95-b22c-526ea8ac8e9d phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b3413b33-c634-496a-8e53-116ae5ea6a10 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:21f8b769-767c-4477-9f2a-9b5c0fdb99f7 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:975cb870-6418-4b08-8ced-c395ba0375b2 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2da474dd-5b6c-48a1-a54c-2b70cff59082 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6c1504f5-298d-4ca2-a8ef-2e7506774928 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6a376d61-2021-4833-b111-3aaf253a77b9 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:37fa371a-388f-4a06-b696-106839ec20cd phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f2dc4736-24bb-4501-908c-9465a5b1cc1e phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d785f7ef-0667-443e-9aae-4345be87e5b5 phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:186103db-76ec-4706-8138-f87cb4903e0a phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:5b25b4a3-5367-4fc4-99ef-f80622605eef phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:ca5a1aba-cf39-4ee0-86b4-85cf3df789ad phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e6b0a436-768f-4230-a5a0-7e965b9604e0 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:db4b7e22-addd-41dc-8d65-49829a3254af phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1064772d-03a4-4204-9e7d-d3ebb6751ff2 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f8bf5cce-9c15-4846-9b59-20c711637b31 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bd823509-e3f2-4f6b-b3b8-e6202ba86b7c phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cc8dd582-8a2c-47e1-a098-cbeebf805514 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8431c181-59ca-4ccb-a8af-a4a6879fcaa0 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:12d9c3f9-1767-4181-a5e9-17df8251867e phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c1e7027b-9c41-4b77-b76f-e0f49e41d746 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7275ee06-177a-4411-a84a-5daf23434675 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9a2b58f9-4745-42a8-a3ff-1d17dbb9764b phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7e1d654a-1510-4d07-9a15-b7d1d58f1351 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0e1deb25-4a19-495a-be9a-0849c0f65363 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8e6e6f29-f983-40d2-99bf-16fb0135ca3c phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1f987c55-1c24-4c43-964c-dfb1ccb92469 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2b53e44f-3056-4c86-bf92-b161afb8a4c8 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:111b3f67-2a1e-474f-b60b-d587d88035a3 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:522c419a-26be-4794-850a-476d398bbc59 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3c287300-b2a0-40b4-8d8b-f95f627ec35f phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4c658d53-5c41-467e-bc90-12da9c47a038 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:64625468-d459-43c4-9d88-a2bd6353c1f4 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:698ef883-3929-4cfd-bac5-0c9e48e15e3f phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:10367b9d-512f-4c9b-876f-c28a5c1cf28d phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:243ca007-681a-4496-b0a1-915cbb8bd5ac phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4f0cc636-af6b-4f06-8335-d80f33543ef9 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6ef018de-8105-408b-8d4c-c4d6d2cd3346 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f1cf77f3-95c0-4c64-aa15-9fc17b73773a phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:62ed981b-02a6-4270-99a6-7b7cc683cb8f phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2a9b0180-2a06-4372-b68a-71e283824337 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:ec26c2a3-6445-49f1-a7a6-e5c2849ab787 phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:9637f30f-835b-4221-a9b0-5c4d4c8839e5 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:810c2cee-ef94-425d-9fe4-2adba1517b74 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:eb856347-88ae-4834-b9de-a8aba38b791c phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6364ea52-1c30-4de8-8228-e1502886004f phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c12717b5-5d3a-45b7-8f02-cda83b0e76f8 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f0ad1130-39ee-41ad-b4bf-a51259ba0c71 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bf94923a-0d31-4156-8076-657e16169b6e phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bb1b75b2-742b-4fb4-9182-4ae17e16ac69 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6ff638b9-d363-415e-bb9e-ee2e13047bbe phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c0cc003e-2e34-4aa2-b768-58e482061bba phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ebe9ab90-4128-4d15-98f7-edea3d165d11 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:14264f32-6141-41a1-af5b-d548b914c975 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8e08401e-36bf-4f6b-8ca3-9ce1e6a6bcaa phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:29336176-c17a-4306-b014-af9049ed4905 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:44905ba1-0102-4164-9502-bb585234c13c phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ae82b85e-d8f0-4909-8ee0-578f9914793e phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e0f72055-d592-4bff-a0a2-5611288d92da phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:99bf9213-c5e7-4df5-b31f-c53faee7bd88 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1e5ee884-905b-452b-bba6-f9cee1d50688 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bbf6018b-7996-4108-9537-396688ab4783 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ad40a2a3-e50b-46c6-9793-3e7d00de3069 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b35846f9-b7d2-45b7-bc93-35f580502e28 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3963efb3-4cf4-4fa1-8327-85bdc3104013 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4d5a1a81-ec56-463b-9659-d4c083d9eaca phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2ae29b16-9d00-4fc1-8b76-b8c2186291d8 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a52895a4-804a-40eb-a755-0483f6bca85a phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:cc100333-e1ed-46ed-ae0d-db7272e2bf04 phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:132b395a-aa40-4c61-9f1b-14883821a108 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:378c6157-e706-40f6-9860-d19b6e5f4f2d phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a73fe8a3-087d-449f-b4bc-c1cf59286fcd phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c3ee5c17-8711-4675-a31d-61ed5738f205 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:43b78534-8353-4096-9ef0-59ccca504e5f phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:73f99ca8-275b-4d88-9468-ae5f58499bf8 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b903bc09-5643-40fe-9bd3-83824e201fe1 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c8754ea9-80b6-4401-b542-7dfc86a452c7 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1b932b16-2729-4cf4-b3e8-1d8a3dc382d9 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:2029540c-b874-4e3e-abb0-f7f8ff2d9a93 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a7ba457f-76d3-4049-98e0-ab79fed1cac4 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:be1a126d-ca66-497d-aafd-a0f25b95cd50 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a138babf-355b-4857-b618-652635c730fc phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:73817ea0-7bdd-4f21-a637-fc08e85da0e5 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ef8a892c-d5df-4b83-9bad-3dc5a6ceb896 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8e5923bf-7eb9-406f-8a10-56ed66ab5e0f phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8f749071-a18f-4cb6-b4c3-2920877d4aa7 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:031e8a66-3d07-4cb4-9329-8f4c57ae1bac phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1feddc5a-afdd-48eb-9642-225ec73828fd phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5817b74b-e4d4-43ee-bba6-e21dc4bf51a5 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:51234be5-47dd-4e0b-a4e1-07af6214bdd7 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:14e9b253-9e0c-4ea1-aaac-e220694eb4dd phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8b74640d-d96b-4400-bf63-32d1afdce986 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b661c6fb-89cc-4681-804c-f6b0bd84ba8e phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:09d02635-069e-4684-8283-08f760013782 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:09cd6b27-1ec8-410b-a9e1-44b9f5de1fe9 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:84aa1e79-d4c6-498a-88bd-886972bb5954 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6a8d1c94-f475-430c-b809-ad3eb7a339e2 phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:2ab407db-7ee5-409c-8022-f2595918a42a phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:67d9dcef-8ba5-43d9-ac30-2482c2ddc454 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d7e335f7-fe35-49f9-b994-6ef051ca6d75 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:66f91221-daef-49eb-ab95-f6cfbba904f0 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1ec15c21-8212-4da3-ab6e-a9b9ef4c2202 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ee581283-b8d9-44ae-986c-eac9806a2ff4 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9e3d569a-e00b-482f-a5fe-a481092c1cc0 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b7594ab0-79c8-4b3d-8078-3b24c77fb3a6 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:251ebe9e-d42e-4dc2-924d-76130d79d209 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4420b2d2-dd2a-491e-adf9-9664b1739c06 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f1e23a76-90bd-4d28-9ef6-413b8a34e5e2 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4dd0a666-0779-45e8-852a-3b6dc293f1b3 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:36f1d59e-8e2a-4d4c-abfc-fa37c9d61d93 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:07c12467-9f5f-44b9-854e-319749209866 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:33244f25-a078-4ba0-bf53-2d316c8f16c3 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c2348e48-21d6-4f4c-a5dc-4011d97c596f phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:099adb04-19d0-470e-b549-952d4dfb19f9 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1b77a897-bd7c-498d-af52-dd9f989a0417 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8825e1b4-fcab-41d3-be69-a383642ef288 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9ff12d95-6c09-4ebc-8d89-7378aa5003dd phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8411e832-d1fb-4cd5-9ccf-fd0e413ff7ab phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1fb03278-9f8a-40e2-ac34-b2062e0fa1ab phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:15181818-bc00-44bd-aee2-c6d7c62c9cbf phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:90d1784e-02ed-494b-8dbf-df18290ce7c6 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:874ab22e-ae9b-4772-9716-14bfd5f5ab2e phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2a1eb3f0-4052-4278-a42a-cff4d777f2cd phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:77255c80-101e-4539-a84a-a2848b4a7b95 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:06d17009-bc93-4246-bdb4-27b6eb8c308e phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:89b03beb-d64d-49a7-92a1-15283dd0b427 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a7dc16f4-dac1-4fa0-858e-1454fc12d49a phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:07e286d6-e7c5-4327-8ed5-9fa432f5abd3 phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:1be4147d-731e-401a-a63e-ae95914b53a1 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:816a1122-d3d4-4b31-af37-40fd35b95423 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:10256241-c01a-4ef5-a622-b073b3d82570 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:fd42f9d0-14cb-4d1b-9ac4-3b61c23345a5 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:45dafe64-1e1e-43be-b817-0fd034636f09 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dc37e145-13b3-4ab9-ad49-3c8beda54181 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5c46ddd7-6f24-432a-9d3c-b95864d0eedf phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5ca22dcb-1c8f-4934-8017-cbf0c1ff4401 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:941e1498-0992-40b4-8a84-43854882f08c phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:eda8a08f-fd16-40c4-b9c1-c9d5ea5beaa2 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:353e92fa-2d07-4876-bb93-78ab631197f7 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:db48f671-8d4b-47ae-8760-bece221b5f80 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ee5f37a4-cdbe-46d1-9372-1ca0fcba4521 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9e490a98-8983-497d-b7c5-e0625549eba7 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d8a80aa0-63ac-4cfc-b992-7c3c930c167e phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c993fafb-e969-4e3f-b3d2-f180a46156a0 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3473099e-aa0e-40c2-8a79-50495f0c2884 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:863af03b-6d6e-4236-803d-adc2b43c1687 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:51237554-d85a-416b-bcc9-66b7ce376cfc phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5048b695-7e64-40c3-8829-cfbdfb552740 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2cc83422-7e8f-4409-81df-72c40595a9bc phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9180e3ea-406c-4088-a5e6-b3a462a81ea4 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:44df06e6-c014-4452-b445-b69e33c4d8b1 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c3eebd06-c730-43a7-8b3d-808da58a2723 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:98cfed1f-e888-4f48-b5a1-b9760856ca95 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8625e928-edfc-4cc1-b3f1-7fa338932cd5 phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:75b06a45-c5af-4b1a-b334-cfa66b7396cc phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:2658c1a0-d3db-43d0-ac74-b3689f4cb394 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:eeda800f-2aee-4c12-bbcd-632a1e469515 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3dea8caf-f375-4eae-a163-cd6904da80ae phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c2e01295-6367-494c-a75c-df9135db38f1 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4c88c13b-ec95-477a-9e99-7988c8e8b3c3 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:133a9a0f-5f13-4bf8-a51e-f156ef4f70f0 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6dad9411-de7f-4cfc-ade9-f7d6f10e271a phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1dbeeee1-fd67-4673-847d-caa61015bfe6 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f05868cb-6b28-4fb8-ad12-b1558f7a3196 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:cfea0805-c817-4168-8208-3921f8b4b611 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e6afac6c-00fc-41b1-93d3-c769ce02a2d7 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6d82ec4f-1448-43fd-9b93-61688f30ab8e phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8583fb73-1761-4014-b077-7cc8d86f6f60 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c900aad7-3f81-487d-b61d-101893583897 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5e6a7761-f9bb-4c54-b41d-de1cccf16e03 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:cd9f7688-42fb-48ff-bd0d-446d43a294a6 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4eb3d0bb-498c-4a41-a4e8-e718a9b34192 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b6429f66-1528-4141-ba97-4207cb9646d3 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d17e801f-2e0d-4d1e-8c0e-0e1803d24220 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:103c8383-856c-49fb-b184-532eb68a338d phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7b826b95-5c72-455c-9ba7-80eb76248204 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:aa4e031f-3385-4818-8670-b2fc4cbdfa87 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e4667bf4-dfa8-4f62-9fff-353aeded3ca6 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8ed82fe8-f792-4da8-bb9c-82af051b1154 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:27aa058a-ad2a-44bf-8552-4a1a817dfd93 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a61dd0dc-37ff-4f16-ab42-419203a07624 phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2ee879bb-557c-4dc4-a1f4-1bb4fdd65d6b phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:a2473aac-d1b9-49f1-834d-0c94599445ed phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:a6cda057-e979-4138-879c-d537d07203cc phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1c099c6c-f9ef-4d35-ad16-1caacc970458 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0c62f727-2d82-4888-8c46-cd112bfa96d4 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0578e173-c294-4088-9620-5f1ad17ae31b phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7ff4e6bc-2896-4925-8457-658261c6b085 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8e3cfcff-b259-42d0-9909-ec8cedd4ea95 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:2eeeebeb-6d40-4cd9-a9f8-e5839d9b79ee phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1b931dbe-18a5-4b32-816d-a15e1cbde3e7 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9e875ae5-df76-42bd-bfe8-ce83533c881d phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d7cbd8e3-693a-406a-9206-29c9f3ba5d18 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bf3f7340-7eea-43e9-8035-3592a33a1e63 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6bbdbbbc-fbb0-4d44-b6db-d9e58e59bf93 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ec872bab-e987-4882-8fd0-1333c601454e phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4c308dce-e03b-43c2-bb57-6c0967ddca00 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a6eb5a4a-7c3f-4c8f-be3c-b7914999880f phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7114eb90-e4d5-47d6-9f9b-33383f7518ad phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:64f30b15-0500-4643-a166-e72ec54c33a0 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5ef52496-8110-4a03-9c73-c0610e6f452a phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c77bc7cf-4ffc-4fc4-9074-1c59348945e9 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:cb51a17b-0ce3-4817-9d04-9e8070286be3 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:63413757-ba73-4831-a556-f218f8a3a9fd phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7f0b5744-e56e-4316-95df-4e5a55db3a72 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0f363286-21b0-43b0-bc7b-613c06bee590 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:87c60f7f-ab29-4cc4-bce0-0bf6d6abc660 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:94c07bdb-c270-47ff-9a26-bc1c2a73d407 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3bb1e878-cd35-4b93-8163-3afa49fb65e1 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5fe33d8b-b8c4-400c-a951-f88960065081 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b7f83ca1-1d2f-4f64-91fe-e9463d3ee6cf phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:695debae-7222-4336-9c9f-6396801704da phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:065594b3-d699-44cf-853e-f2dc0b42f688 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:4a98e14d-9b09-427f-ae1f-b1ac917d82a1 phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:51b11177-fd44-413d-805b-2be349e9bf8b phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0fbe034c-fb2f-45ed-8196-35883fce24e6 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:437a91ba-c5e1-499d-95c2-b060380eef64 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4b0c5ce6-1d75-409a-a402-8970d892aa31 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d96c75f0-28de-4553-b947-2af8dd2293fe phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e31d9f66-0df9-4140-b696-ccfbb552fc57 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3ccf079c-7117-4717-bc18-fb8d526ee1e0 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c264679e-eab5-4359-a12d-bb3548e483d5 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:14b1f202-4590-4e76-9447-e925bc46dc59 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:093a6ee2-218c-411c-95b9-56e97e3f721f phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a9e66e72-b65e-410a-92e9-369c5c10929b phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:768865d2-4f56-47ce-b7d7-ea20869c9845 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c359d775-24d2-4894-a7c2-08b8ed8a2cc3 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7101d730-6bdf-407e-946e-a0cd3bf70212 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:db6d2972-f05c-4a93-84bb-40ea7c4cf353 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:fd36bd7f-293e-47f6-aac0-d44327d5d411 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:42a68224-0f70-4d4b-92ce-5f91c9c3dafd phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:80b49b5e-f731-4f82-9c39-31fce43dca26 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8e889ddf-ae54-4d0d-a6dc-c183713bbdac phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d5a49e7e-1aa7-422b-b855-b26931f4cdfe phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:53142c23-7e7d-40d9-a6c4-a3fbd97323b8 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:28ba7da7-6ffc-4c15-ad17-891aac932059 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:829a8538-558a-46aa-bd1b-da8df4b1d603 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:906fc1e5-b7b4-4bbe-8242-247b3a6c1410 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4c27a3d0-74ad-4523-bacc-a71bc199a6e3 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5021a17e-b52a-4e40-a814-f833ad80de4d phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:093f1808-adfb-4f62-9b0b-3fe197953592 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c2bbf772-6374-470a-8a52-8bd8ab5831e4 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6634fb2f-312a-42b1-af41-7c97d2460d88 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:fd7a6d3e-ba53-4c00-8c14-702e77e3a1e8 phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:8627b9f7-443b-4e86-9d04-125630c5b614 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:2d1bdd84-c3d9-4f51-ad51-fc6c23f37090 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:68a9d3fa-4353-41f4-a0e6-9d14bccdfc4a phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a6dc69a4-4576-4afa-b7ea-14474354ea02 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1e5b0465-f967-4005-95c6-285cf1d6ff5e phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e5b9067d-1cc4-4ed9-96d4-c67746c0ea79 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:35a51fe0-8206-47e5-b728-5f19d36ddeb3 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a886feaa-41b3-4239-9700-3c3281253700 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f4cb7bf2-cd77-4468-8787-8a8b1aa2e0e8 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:287a5c20-f76c-492e-87c4-7b5e27790b64 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a5f37b22-d7c7-45e3-b2ea-1d31d7c7a7c1 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:657a2ecc-6204-47dd-b436-59dbda5ce143 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4815427a-76ff-42dd-9e8c-94d6e0d387ec phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8824a305-7e7b-44dc-939e-763d45a035aa phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:def461a4-634d-4564-ab4f-bd9f98bac3d5 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ea0a2bea-45bf-4072-9eed-c68225c6d05a phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ae8df618-0d8e-4133-a66c-c107595df1e9 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6d237d34-008b-4685-a888-e33c2ca89686 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ce632d27-d495-4e1b-919a-8282d509c4c7 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b03e9f8b-a440-4352-b767-4c35d0c7c123 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0a2477e3-9df7-4e23-a834-177c18d88490 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4631d19b-3cdf-4698-b466-654f21bccf79 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:97847b6c-ed49-4a15-9999-3d2b714121f9 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5c2569cd-9aca-4e4d-8ceb-a8f83c2ea24c phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d2a10080-8624-4dc0-93f8-e82fc900e9a4 phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:8fc1f575-31ec-407d-bdd9-440e0e13d10d phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:2abdfdbe-54cc-420f-b8a3-35529fc797d6 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:adb1b89e-5724-468e-a09d-6ce0f85e115f phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b07747c1-d704-4b33-9e93-88eb26a6b559 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0b289320-0a8b-48da-abd3-4898ace799b6 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5f39a783-814f-48dc-ae2e-ae5ab21f52ec phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:182f258b-a2bd-4942-9c0d-c053e01989e3 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:100a5b90-6904-4496-854a-02d1b03ca35b phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bd308d6f-2d34-4bb6-95c9-db06c3c64b06 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:efac788d-6d6e-4121-bca4-af6e18478778 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:42f3af5d-2eb6-44a1-b5d9-d4a47aa9041d phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c08ea340-e3af-4b32-b183-ac4dc541eb2c phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1ae1c372-7fbe-4af6-a024-4b3fae141d32 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:41278038-7e63-42cd-bcb7-177ed5e0624d phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5d80c526-04ed-480e-a728-7a3ca2ee67f4 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:45edeedb-eb28-4c10-b673-fef3f86c1818 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3d07ebbe-30d9-4f9c-af7b-34bfdcf63ebd phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e0ea83a4-0f21-4fa1-b482-80bd135cdeac phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ffe9cc8d-9b0e-4654-b29c-4828f4f59513 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b5fea483-30c1-421b-8078-c10eb4dc1cf1 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e14a81cf-5dda-423a-b327-90399c9bc405 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3d8a7f5a-530c-403e-a867-178156637c58 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bc2413ad-1416-452b-acae-135f3e570fe9 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7e401d3f-dc66-4573-8ee3-ea2f74d6bd89 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:44ce4064-5454-4834-889a-1189fb85b2ae phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0faf90fa-4332-4027-be7f-1c44072dfb7a phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f0c30eb2-43a5-45e0-a6c3-e5935d506db5 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0b7ead7f-14fe-4c92-91c3-581fe88317c0 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5db19b8f-52bb-4cbd-981e-03212461eea6 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:10caa27f-30a4-4151-a529-09213e471fc2 phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:78d88e26-f9fe-4582-a0a0-2d0f5bc47daa phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:912196a7-e7ed-409d-81d3-8cc61da642aa phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:b99a116d-9f68-4dad-8715-44a54809e3fe phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:78f49b58-e345-4516-a28e-d918279c51cd phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:fe36996f-0a1d-4c7a-8ca8-ff9131df8191 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:90cbe073-bcfb-4882-bf2c-9fd0b9249133 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:07a206ab-0093-4eba-a8ae-eb144c9e22b6 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4d5e4d64-a4bf-4b85-968c-fb24632164a7 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:856143cf-4ab1-447d-a0f8-fc6132673b8a phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3ddc0365-63a0-4f4b-8321-595d40ae2992 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4a057400-4e3d-4df7-a039-328ae3e71fc7 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e28b0d7f-67e8-4233-b7b0-2f571943c653 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a2f34a7d-95c1-4730-b8d6-018983ef5470 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:51045bc4-cba0-4a3d-83d9-9e5c7de6f476 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2e10b7d7-a35e-4964-a725-61ee7760d5e0 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a9db9783-304c-4837-a038-5f3d315e0ae5 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:42cfdf1d-667d-41a9-b8c7-f6d7790a9e4c phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2e26a4cf-dcc7-4fdc-9af0-49ec98093bc5 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d2869d82-c038-4632-a0fe-e26dac3dc662 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bad8a1db-bee8-4240-84ca-43c087bf48cd phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ef1a68dd-0665-43ca-95dd-2e07fdd26879 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:642f6dd5-b56c-49e1-a4a5-d03e04570ccf phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:90830f74-2e0a-4623-b5e2-030be5051890 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ae02b749-0e22-4546-aedd-dcf983e6eb27 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:cfffebc7-2dfc-4c8d-b6ae-94e69b8dcf90 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8ca9e604-5329-4cd7-9688-5b5ecd5f37a2 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:88735413-57fd-449a-bcc6-458c4eba4885 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f5cc4b89-8bda-48fb-ade4-e96576878389 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:df2efe2d-7f28-41e8-8b50-f6bbabd5f96d phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2f516f88-45fc-4329-b7f4-48baa60c9073 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:e33f461a-80f6-4897-acd9-90760f035ba3 phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:07f4bd3e-5d2e-4435-92bb-cd1ff0dc78f0 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1724f6c1-af9f-43c6-bc45-17f325786fdb phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3aa7f9e2-f9d6-4a2e-b105-1de39eb4fc3c phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b409c5da-fbb3-4cab-9f27-fcd22b33f760 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:337295ba-3d3a-43dd-b09a-90c4e54d16a4 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8ab63fbb-c91b-47fd-a987-f907d2c6c370 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:994b0e04-e687-4bf6-aed7-5e45b5c616f1 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9786684f-8eb4-454c-9d26-6cab616b91ef phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:930c23bb-4ed6-4631-bd71-475fb29bdb10 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ebfc2b91-bab8-4272-b636-c31efefcef32 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b1b990a8-6e3f-4879-b876-a84d88722ec5 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:18755707-c03e-421f-89d2-46f935d8196e phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:863a204a-6533-4b00-8713-e564697babff phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c8610c8e-d68b-4a2e-a910-6d226d752cfb phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:159b4bf2-e024-46b9-95f5-ec02c1b1d0f1 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:da719f56-2b4b-4b61-8350-40378bce5cc7 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:12d654fc-7fa3-4276-bcf1-2f74ec0dbaf5 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:60c0be11-1b9f-4edf-b1fa-3edae4d3a677 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:371b9542-b697-42e7-873c-105d53626e62 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:06cf16b6-351c-4200-9e39-19726a71c57b phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:630f19c4-3d07-41aa-ab37-a4324e9fa922 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e9a91f00-d9d0-490b-85be-0ec10d2497ca phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dac8db79-1b0b-48bf-bc6d-58d2211addb6 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ec785da8-2683-44de-b605-d75f4194f860 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a0b06e60-9929-45c2-864c-bcf3b22a48cb phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:090db896-3aa0-49b5-9004-002a1fe30326 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:79e6ff27-ea7e-41d8-9eff-b76359c1f583 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e0c571e9-a99f-482e-8062-9ea92ccefc08 phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1b5e2e90-382c-4c37-93cc-e52bec36655a phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f32a0979-8d28-4119-a05e-ae4caef99d5d phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:d1d512e4-a1cc-4940-8b80-d80299f6f4ba phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:845118e6-eb0b-4069-a07f-0869f35847a2 phenopacket.store:ZNF462.PMID_39069253_individual_36_Constantinou_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e0736610-3ae6-43f5-8d99-39534028e0a9 phenopacket.store:ZNF462.PMID_39069253_individual_36_Constantinou_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6bda7a54-7b69-450f-948c-fa984326f567 phenopacket.store:ZNF462.PMID_39069253_individual_36_Constantinou_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:542afdb0-aa80-4f6b-a81a-c52f2fc57048 phenopacket.store:ZNF462.PMID_39069253_individual_36_Constantinou_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:623137bc-c347-4a78-88b2-a0e3525df8f0 phenopacket.store:ZNF462.PMID_39069253_individual_36_Constantinou_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:cc91a2be-2ee3-4a63-a455-733db74add8c phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4c3984fb-9d91-487d-82f7-63dba6cea131 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:38cd31c1-983e-4a73-af6b-8dbb3a459f01 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f32ff642-0239-4280-8145-31eb8648107f phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:66b4184f-5d43-4da5-aafd-087fc1fefe3f phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:63cf90d6-8e74-41d0-9959-f3a282b3b79b phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cf597d04-24cf-42c5-bdcb-f141a0da013b phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d5ce5dc0-0d9c-4276-a87f-135942dbace6 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4a195eb8-b327-44c2-9aff-9869225c1e76 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9c920e6f-b36e-4004-9ee6-9e43baf11d19 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b70358ca-57dd-4152-913f-913ff1336cef phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1c61c5e0-e47a-4d14-b464-1953bb390013 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:533b00bb-6bab-49da-ad54-8b954372e6e3 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c71cfb53-28bb-47c8-a4ba-6d2ed06ba909 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0109263f-2350-4f11-9c17-3fc8aeb4152b phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b772ccc0-5b5f-49c9-a4ac-65dd7286efb1 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:244e9ef6-c7be-4541-a540-0edd3f22543b phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:43063a7b-ae6c-4946-bf81-f41f778f6539 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:491f769e-4e0f-44bd-ad77-9791bd289edf phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f46a820f-696a-482c-9971-4e0a0d04643b phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9c20607d-1770-4b3d-8e0b-0ee09920ac5d phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dd168220-fd83-4fb1-8efc-a5621429da6b phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2e00a282-072e-43ec-a8a1-8a18f0f35bdf phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:151c7b31-6c2e-46bf-b144-7de0e30c9fe4 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1f8e664a-26b5-40a4-b16f-7e820f5b94c4 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4a0b8786-ce5e-469f-9382-6829d64dc8ce phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:4a32247b-33ef-4296-8d5d-6b9e92d6e0c2 phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:21acd0cb-7ee3-4e28-89df-3fe9b2256f28 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e7b92869-4092-43b1-a56d-e2ae828d6c51 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1d8750e8-8e8b-4243-8104-39eb6d3c9e4f phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:033f138c-4b1a-4eaf-84b9-49a35e84c425 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b8a8f18f-a506-4a6f-a91a-9069433ce4c7 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:969d71d1-b046-4666-8289-46e90176c265 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1ef3aa65-5bb8-4c2d-8436-658da5c34110 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ae35295c-ec5a-4ce2-9ab9-723bead6bdb5 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3f304d7f-abc9-4957-bfe7-eda0a8725740 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2509db3e-e547-4b85-aee1-489f5563e67e phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:37c58eb8-586e-45f3-bde7-219aea2dfbe5 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c4597d2e-6f56-4217-bda5-715daf65b980 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1f54c032-3841-4a08-ae1c-f9fdf99ad6b8 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a5fb78d1-825c-4657-845b-a85e4917e727 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8f87cd81-ada6-4935-80df-b0d44c80c545 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1a6bfeff-a133-42f7-a860-1df647914733 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:828b1a92-1c5e-4690-b6ed-ff3b6172ba54 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:995a4d41-87af-46e1-b7c6-f88df2c499bb phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c9bbfad9-21e1-40b5-9cf8-8451438fd025 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:470243e2-3d8a-487a-9dc2-c7ccb98e3705 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ba67688a-8183-4fdd-a205-7fb1f1c839a8 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3c898895-359b-4aaf-a1a6-8f51d5a38ce3 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:345bb51f-0c2e-4ed5-b6d0-ae2e7db76608 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1bfe8c14-671e-4049-b8a7-b1920239a81a phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e3b5b9b2-03f4-4ee0-92cd-adb9a375ed91 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1a102901-a92c-4770-bd91-5c171d1d5403 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6aba4999-1f4e-4ce6-80a4-f6ffc9f307c7 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e8b6a74c-a0c8-4dbd-b61a-1304e5a9ef78 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:3ac65759-b186-4810-ba8d-1dcfd30169f4 phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:1a971a71-ac80-4398-ba04-a7b821c86af8 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:208dda87-406b-4060-a3ad-3e6c524d8313 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9fe9f1c2-b317-4c44-9a09-a736481821b5 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:503ab9f5-a0cf-49bd-89cd-15863020ed00 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:670b0f8f-48d8-479a-9ef0-8022d3a28013 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:2fcc509d-1bae-42eb-8a1f-f61ab1984b6a phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:91cfa509-91f6-40e6-9fd9-5aba4c190a1d phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:937b7f88-d6c5-4fbd-81fa-7846f83d39cc phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:31e4ad65-bf6d-4736-8b74-92c41a963a1b phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:17161842-9811-4a76-adf5-7bd6726989ee phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d0a8d8fa-ad37-45fa-ba43-9a86e89dd058 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:97106621-b5a3-4156-a6c7-fa50740cc786 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bd6f118d-8da8-4540-adb1-a8f3d87ed5ef phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b36adc89-70df-44b1-b13a-7ea8307ce852 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1ac6b5e3-e869-401e-b1fc-19c5dbc30e55 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:cfae6cf7-248c-4a62-a6ad-e0c3a407465e phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e7a13795-8bbc-4c08-98b1-1c33316ab0d4 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0d2c3fff-bae6-4d1a-b83c-b0ea4e890c3d phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ae6fa2c2-2ecf-4351-bd24-993bd30b11d1 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c49ac576-f529-494f-86bc-3094778bce53 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:78cb3aae-6637-4c4d-bee9-7611e83cf65d phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c145a6f5-18fe-42af-8fe8-bc58550fb506 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:286799ab-9ea0-4de6-a45c-43663b4e3409 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:06f52878-25b4-4ceb-b978-ed55438dd568 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:32ea053d-9d81-4f2c-9b4d-fc53e45ed218 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9253f8ed-69ee-48fd-b70e-80c241bbcbce phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3afe05f0-2863-493d-9cfa-45ee97a1739a phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bc78b96a-31e3-4aa0-8adf-6b730aee0075 phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:591856c8-df98-4a19-bf47-e39a66aa096c phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:7daaaf3c-222f-4c86-8dd2-5c3ac3fc076c phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9a7b1fdc-fb7d-4545-bf4d-4b115f7f779e phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b09b895d-520f-4de2-84cd-d70506dbbb9b phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7d55182d-2a95-433f-80d2-436b073092ab phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:2fdb1830-4079-4ba8-b5fe-22d68653529b phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:de8b2e4e-1463-43fe-8570-f3683e79859d phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7b7a665d-441a-4358-a6b4-c60c52267d41 phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:289db0cd-7057-483a-b101-00b360127ab4 phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a893b8bd-f9fd-46f6-b154-d5d7974a9b0e phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e8f11eda-eeba-4245-9289-771644f7ae51 phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7603e946-af89-413a-a0a7-ade57309570b phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d939fcd1-65f3-42c4-a3fa-58c8586000ac phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f3843a2d-0672-47d4-a994-36e3b44fd595 phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:365aa2d5-63e7-4b24-91e5-69df87f6a62b phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:ece658c1-a923-4eb8-9301-5603e99e741c phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:417cd09c-ab5a-4c15-841b-15a2366b6673 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ba5d2a44-05a0-453b-9616-99c9f1485a46 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5cd65a8b-8085-4f9c-8bf8-c8950fa99965 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1ce8c81f-a96f-43f9-881e-3a4a1fe21cfc phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4fe8c3f1-7563-43f5-83e1-ca05ca609436 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:401df86e-cd8b-4f74-8f8b-e9d23f5d2666 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:30c5ee95-1a8f-4dd9-a8fb-70eb9e2b7b57 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b1d3adba-0d22-4f46-a6ee-62746666abcc phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5d67572b-44e3-48a6-ae54-bf2a4de6bbd6 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0fff8865-2a2d-496e-b18e-9e0876025b6f phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ac096423-d2ae-4d0b-bd07-c5af0f5ced31 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1803df36-b878-42b8-bb21-3119fd86318e phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:eaa35579-3334-4b26-b521-9695cadb4c32 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bf251a53-c401-4744-938b-2a77f167dc5a phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8aa3ba03-c539-4973-84d1-01b268a35b69 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:99b59d2d-002f-4b7e-963f-26fd23a92b85 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:be6be6e6-75fc-4e0c-a0f5-5849471bc912 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d2496a49-670d-4f4a-8c09-924672d2cb5e phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:318569ca-89ab-4880-8a20-393590c94d31 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1b0b083c-05fe-4642-9a10-2634f211b766 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b4171b3a-ba1b-4ef1-9243-1d0ce8ad8475 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bd32c27c-0a77-4c25-a001-db459d3e9df2 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c9e04c0b-d152-4660-9437-40f831a253e1 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:94bcde88-ec33-4378-9013-2e242fa8aa9c phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2af57750-d4f8-4436-93ab-a0bf629de46a phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1549758a-f732-4d89-974d-ce8df384a6ec phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3f137135-95c3-4ef3-88f2-e534b694edd7 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:80c0dcc9-9cc7-4fcf-a2e3-21b52b5df5b4 phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:2ab3da09-404c-47c5-ad43-e975447f76cc phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:caec1dbd-def0-4dad-bfa1-f7ed4b602ebd phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:30885c3e-fb87-465f-908c-ba11844a41e6 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:da4ee63c-7f82-49c0-bb6b-e8b9554d35a8 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7d06acc5-68f7-4209-a36b-b476770a4c47 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7cfabefc-602b-40b9-a76b-7ab298bdd5b2 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:94d0db76-b04f-451f-9f78-627e0ed43a7c phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e210bd28-b75f-4237-8e3c-68eba526ed83 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:31688121-35c3-40ce-8c16-b54d4635aff3 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b449cea3-2829-497f-896d-e63948ff325d phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5acba2a8-3f32-4824-a784-573081dfae42 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4a07796e-35a4-4e08-969c-f3931f40cdbe phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ddd200fe-0e6f-48c4-aa2e-b49843fa2284 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:29ba6a52-b1b6-45c0-bc05-b1eab35df582 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:91888655-782d-4ee0-840c-230c585f9125 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9ea99b95-6d8e-4184-aa51-e9b56eb4f486 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:905d4680-d554-403f-92fc-6ccc3af8b6bc phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:c8f335e3-ce10-4a90-bb27-7ea2c5ef1884 phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:e14cb226-d25c-41ae-a908-b533be0d1dd2 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:17bf4eb0-88b8-4eb7-a523-a266171ba698 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8cd21fb5-2aeb-4d20-8a80-c91d8dfe84e6 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bef195c8-e901-4462-acd8-0cd70c04a5cf phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:dc1e68ce-edec-425e-8e50-ff298e74db86 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7cd96c1b-6f25-485a-b99e-ab0063547a3c phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0e9e2231-6377-45c4-bbae-8317460deee2 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4d77f7da-fc59-4d6d-94c6-205fbd55f3ea phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6517d632-03d5-43ad-bd60-a6368cbbb692 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b48fa261-d7b3-44de-b244-d708d04fbb4d phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:15fe4e63-9dea-4b3f-b388-be0990609925 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1157c223-85f3-4e61-af0b-bf42e9a83cd9 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bc3b7a1a-e0cf-4ab6-a0ca-062d582d731b phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2cf33892-06f9-41c7-84a4-20860cc6418d phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f189f54c-150a-4f55-a8c1-25c6a10942e6 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8fcef4df-1ba1-42a0-99b6-6daca4c7c8ef phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e27fa830-47ad-48ca-a2ae-cb435b9de404 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e06d9849-a6e9-4b27-9b12-5e718aec9dc1 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6961258b-1449-45c3-b973-47169cfa7e57 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ad4aa156-fd0e-45bf-a578-a38da5ac41a1 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a2847175-ad9c-4d54-b705-69b55a82817a phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bf3a8bdd-3079-449a-9709-92446c5536a6 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dfb3f5e5-a992-4e95-b1be-c45d22ede751 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f9d77d8c-4863-446d-adb7-d1a8f92ca56a phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3016beee-99da-40b6-b987-4063e770935c phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:97bfce4a-d64b-4a8c-bd4c-8fa1f6bc3bf7 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1f7c8773-77ee-4be9-a08c-cfabd0ef315e phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e45ab454-47a7-41ac-adea-c0bac0871893 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a18f63f2-c2e2-400f-8d5f-b188246fca2b phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:9ae32b65-3168-4781-accd-535267bc9da7 phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:821ea952-bb86-47ab-a70a-e1668673185d phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7458e78f-810e-4f4c-93fd-3c414f267972 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5a232131-acec-4a28-84ef-3c7b901708a7 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6691864f-b217-4495-a7c9-9eec756d6507 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9b0566ff-68dd-4103-8723-f0dbcb70c4dc phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5e553fb0-8c8c-4af1-b121-ad86c928c6e7 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:21ddf31a-d084-4fb9-9c66-d4d154bfb5a2 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3b3de51a-1068-4c11-b5df-f47882bc770a phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5ef04e30-7791-403e-a2cb-965833074cb1 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:201ebdcd-66ea-44d9-8737-9248cb542857 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b985ec57-12f4-4384-aa94-d0d6c46e2e09 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:491e8878-6593-40d0-9573-63aba84eaa48 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a5a2ea88-2d31-4f2f-89fd-cfb65aec1408 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b3fc4e06-40af-40d2-a650-0a6bef6bc481 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:192d1439-8e8a-46a2-b153-0ce24fa41c93 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8863c526-bfb1-481c-8f66-ec2a6a401ba3 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:461699e6-add4-4245-8105-66fcdd6967bd phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e74cd6ed-d5ea-426e-88f7-da29b7669b9a phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:42c113a7-6c1d-4d86-95e2-69026778e2e8 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f7875670-d505-46ea-bf97-8589ef2733ea phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9fdd6b3c-95fa-442d-b8c1-73333be2c6c6 phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:ce6f0b9d-395c-4755-b044-f0bbfcdfdcea phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:9b0ce896-285a-49c4-81c6-6ee6a85a1807 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:efd78fe0-3437-4d1a-b775-6343fc823eb7 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4602656a-77c9-491c-b79d-1130c9d5f215 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cbfe9dd6-e311-47ce-a7a8-f5aac5378d4a phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:2c5bd154-894a-4283-b12a-a638e89e467b phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d26ceab0-1c0c-4461-bc99-c67bf04f0ae2 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:84f7a07b-89fa-4057-a7bd-d22c62d69550 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:dbbab82d-bca6-41f4-80ff-91dab4122cd9 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d12d3436-5399-4e76-860c-8be10f3d9f34 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e31b0ab8-0dcc-4838-95db-521fb135179b phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:277dcbdd-d05b-4c7a-9833-5deaa4a26333 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b9608fbb-1c85-4a59-92a9-4a164e5807c2 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e5c6ff31-ea51-4977-8ff9-d0c322bc8b2a phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1716115c-1d11-4790-b5bf-b63f36a06d6e phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:77aaef91-e55e-4e33-aaf3-eeafc04d36b4 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7da84063-9e17-40d3-8960-942456db86a4 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e327c347-8eaf-4c78-899a-150bae3361f5 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7173f694-c677-4132-a23d-5d1a3bf307dc phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:d034b098-d9cc-4e7f-913f-a74b10e3c559 phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:00052163-419a-4da6-ab63-4d06be6ebdaa phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5afebb67-d4a5-4141-8049-c602c1b5b4bf phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ac33a518-f72c-4987-aadd-4fa4d13e8d46 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d423c88c-fe0a-4800-a21c-188f5ecd0e37 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f6b3d3d3-38c2-499b-bd13-9fdf626e521a phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:df680ab0-bc67-4a69-b36f-574e231e49cb phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f2c7e64d-20ed-4baa-893e-65bd61a6772d phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1fb8b1de-9c4f-4e32-8e78-672e86960c69 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7f3a41c5-145e-46fe-ae62-866b7155e20d phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4864aa7c-3dc9-4a02-b816-989aaff1c930 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:47a94d47-36d0-448d-9daf-f2bcaf09ef95 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:36f3f87f-fd87-4c17-a9df-2ae1d1cfb29c phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8c314021-2505-4bb1-9f1a-e7ffd53e9176 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:155b32d6-747c-4537-854f-db37c701992d phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d3eadaec-daf4-4900-aa42-d8d01f1b0354 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:80777ecd-e3e3-4cd8-98f3-e3c9f424fedb phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5293113b-cf85-48ba-9fc9-00d969949d32 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a648e970-4db6-41bd-99b6-b8679ecf6f83 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:49d28310-8678-42ab-b7ba-4cd724805edd phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2ba9863b-25a9-4883-bd77-175c188a0e4e phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:aba65490-a6e7-4b71-b52d-e5b56ccb51a3 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6f280132-4ebc-4bc7-9aa2-d7e9ca2f233e phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a2597dad-d4f2-4ec2-bb27-a07445f23e14 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0293396f-2fc2-4427-81ff-bfacdb6d6e2b phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:37d2b0c1-5682-424a-b3f3-3601403b008e phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:07737335-f125-47e1-831e-d970f3ad878a phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:53f5df53-faee-42f7-97e6-ef98e9b5b488 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0f22323c-a13e-4066-89a4-3eb038cd7de0 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0fefc096-63c0-4de1-a564-ede72ac32179 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ef6176d3-afc9-4187-b8f0-4069eb870ede phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:046ef92a-7aa7-45ec-b049-2d0ce514ab77 phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:cfd36583-f743-4018-8f80-44aaa61f86bc phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:906c6dec-2ffc-45ee-9439-4e0022c45cbd phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b0e58ee3-ca7c-430e-9ab4-93274079f709 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:247cb812-b63c-4589-ad23-759a14648947 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bc9b0147-9363-4d5f-bb60-257474fdb1c9 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:92956a39-34b0-4612-8541-55a6411399c9 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:03a4fbfd-19a8-4782-b78b-02cffb6c1afa phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:26d4ec35-a788-4417-9973-9fe317fbe052 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9ba6f139-712c-483e-8c7a-e0178209a7f2 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:791dabf6-3958-409a-9d8a-99a130b298c3 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0f0b2cb3-6864-40b9-b03f-1787f1a61a43 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:37e9aefd-857f-456b-8ca2-e1285ef18d80 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f4ec88c6-aac0-49f8-bae5-256188ba1292 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:53f8a926-96d5-4cb3-b96a-171cf741c336 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:223c8e77-04cb-4240-bd38-68106fecc449 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:86d315bb-ff73-4118-83a0-4c9596461500 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:faf98a5d-d88d-471b-8bf4-512ab2fd45a2 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8e3fbd5f-02b0-4fb2-8008-b3bb64fefa16 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:68fb053b-455b-4b48-a2a5-bb2e99a92b67 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dc9e5e2b-ec9a-4ced-bfab-e4d6dceff340 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4b84c0aa-3c76-4c0e-a777-756dc769ba5f phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:74d453f4-24b7-4d2e-a543-1eaaecb7ff37 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bf65fc35-6f6d-4a2f-ac82-9b7804c7eb4e phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d0fe1cbf-4438-477e-b919-a5662895573f phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:49d289d7-802d-4f4b-9164-a593e182ffed phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:183594f0-90cd-4ae1-bcd0-f0b8c84bdc74 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1fc914ed-3f94-43d1-97bb-3fdb6e4515ee phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:71b65441-dcf7-41e9-b946-15267e101b05 phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:22aa680e-8d9b-441d-8b1a-d3f75a3f423c phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:867b188f-a66f-45e4-b124-21e59b2afcad phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:57350cc7-6b8a-4946-9135-1f13adc8f4fe phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:bd85256e-b0bf-4c29-8fba-21dc48dfbaa5 phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:33abe71a-b041-43f7-98a7-5100730e10d5 phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bcc46a07-421c-47c5-b6fa-ff168bf6baf3 phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b5bea2ac-768b-40b5-99ae-49d337d01552 phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3d0f3a1a-f7e9-45db-ba20-8913563e6f58 phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0a00ab89-4ba2-4b9f-bcd4-7078f706a833 phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:98ee3aa3-18f0-4414-b4c9-fb6d0efe6ddc phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:91e9a374-6646-41a8-b766-052570bc4f6e phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:14f8ce09-269d-4804-95c5-0355bc223e76 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:df5ff12e-f9be-4840-80ba-6798b104328b phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0bd1b658-aa90-4cd0-a90b-06ebc236b812 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0b566304-a96a-4f57-b953-7849144fb83b phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b4eba848-7e25-4c79-808c-424802ae19a4 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0a534d10-b262-43ba-b8d4-371f836d7f89 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0298081e-2cfe-46ef-9438-5e86f1d9298e phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6f7b98a3-ec6f-44da-89e9-3748778637cb phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:60ee9303-1344-47d9-8469-00ec54d06591 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bf7ed144-f2fa-4458-8335-2e8c4ea7f3e9 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:aed7471c-d193-44ae-8ee5-36f64f7b3157 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cbbf4a70-b2ec-4ca7-ae62-0a311929469a phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:df3663dc-33e0-40fd-9118-00776011612a phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5b50f111-20bf-49da-a38a-b514609ac1dd phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:09c6ce78-cb27-4499-ae73-34dd029f058f phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d201cf83-4514-4f96-8218-73734ffb30cc phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:88a7fe0f-aa89-419e-95b0-4d7bd0a89148 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dd26c9cc-80cf-42ed-b517-7c1043a8afa8 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0e6cbc06-cfca-4c60-8133-1ccaabf93e68 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:600787ea-131a-4389-9962-1fa63c5c2cf2 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4843ebf3-a00b-4f93-93a4-3293eb5d483f phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:85136afd-ed16-411f-8a43-12bd62c08dc6 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7ba7c8ba-6ebb-405e-80bd-a2f95b03e4e4 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a2d8a775-efbe-4d27-b010-0b2bd8156347 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5e1e49f4-47ab-4a58-ad4e-dcdcbf1f0ea9 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0e8dacc1-62cf-42f2-b233-73da565b571e phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:21933918-a627-4662-a5a3-916c977f0baf phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:34a0ba60-66b3-48ba-acf4-0a87efd957b4 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b34598cc-1d34-4498-b1b3-b6e0d81fd171 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:4d97b657-a687-4213-a6b9-2bbaee901de6 phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:89f8ec3e-304f-45bf-83a8-ba3233e8db43 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1e3bd667-6ee6-43ae-a4ac-5264cec30f44 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:006cccdf-5daa-40e3-b64a-3ed9a1f218a3 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:55de00c4-4eb7-48aa-9320-8bfa89f9a2de phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3e380732-c4e1-462c-9169-d1c8c1951aa4 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:537e7c1b-084c-4942-b45b-70b2add21f1e phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a1a86ef7-d9e0-4989-96a3-e2b52a34c107 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:778211aa-88a8-41ef-9aeb-8a3d365407b6 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ae32b5f1-b80b-4838-b0a7-141ca500e1b6 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:be52f5fe-163d-4bac-95f4-5132ae0f3ba1 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:23de71e9-0c89-4dd4-af28-6715727070a6 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5087998c-36f6-4321-b9c1-63ad5815e099 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:413f6eec-64ff-4cdd-9b9c-1dda8ab6b1bf phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7e2bd6c1-1cd7-4b22-b1b5-0fd7da0f1147 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:af22c9f7-97f3-4da0-8c47-ad9d219fcc6c phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6ab4d16e-b223-4a10-b97d-b37f9cb258c9 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:92a10790-3c40-44f0-87bf-927345748aed phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:36caab7d-480e-4126-a6c4-1ff2bb5aa84a phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4853f910-f194-4629-abd4-10e0ec746d38 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0786da9b-878b-4b54-bfd1-03fb12a078de phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2401baa8-9cd6-4685-807d-ed19fd61f231 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6e89d490-f13b-44e0-9e47-bf2d0e117d03 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6aa01424-717d-41f1-a775-ae5d89c3b9b5 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:fbd95b8c-50f3-410f-b896-734fffbc0abc phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:454f52fd-afc2-4078-a6a1-517edd1dfb84 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0794b41b-731c-4261-9e58-d2e5180a1e32 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:fff05406-4272-4dd8-a18e-aa38c6426538 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c2a8d777-f479-48ea-8bab-1beb141bb0cc phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c887fd93-152f-4153-91a3-27dca7009c30 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:57e92a06-9f58-49f7-8aa0-674507047f61 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:d1430712-7098-4c17-bf4b-7d9e3733a2d9 phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:8c63d2ea-6f12-40bc-aac8-3cf9a28d0095 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7db10269-9f7c-4e71-9a1d-3c449c7940bb phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ec14e219-0252-4127-9e9f-6285cd2bacfc phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:77948901-46d5-4bdc-a1a1-9e3cc5c30bb9 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c199a796-59b3-43ed-874e-a2c79f6ef6d1 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8e494b3e-170f-4f80-a6f8-790f793aba3f phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3062d322-b66a-4d56-aeb3-e215f583738f phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:476d5797-39a1-4587-8b3a-e28e24e5475e phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7fd7732c-eb65-4209-800a-f317dba7bead phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6f9115b1-7b4a-4a05-a0f5-0c00374b92be phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6e6e82c9-88eb-4b1d-aaaa-f0e8b658e12c phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9df8b26d-10e8-4bf6-b92d-a5c60a6ae45e phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5f344c54-0adf-4aab-9520-34258c933d9f phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b546b17b-f43c-4539-abf4-39671ceabf5a phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:eb7edc96-769e-4204-aff6-743d44623c82 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:291b8d9d-b2b0-41ec-997b-3054ee4d332e phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4ebe2d74-f85e-4bbb-b31d-6d1e782d50f5 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:89864a78-e8af-4ffc-ba21-660a62d9d01a phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5993e83d-1d8b-485a-839a-4445947b4db7 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c04772e3-8c8e-4398-8378-fca55637af1e phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:56629d23-38e6-4aa4-b2fd-98e7e70db646 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:04a040b1-b612-4654-9355-ec9ba2764fd8 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0c3f0283-d761-44de-b9dd-83746b9594bd phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:22c8ef10-046c-4f82-a6c3-5b56f9620adc phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3b0563ff-786c-4ad7-b732-c30882cebd16 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2e30b798-b069-4577-a985-e27b9e021dea phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a9db19c1-2f2e-4a3c-8ef7-c98669014aae phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:16dd812b-88ef-44a4-83ee-15fad61d6d89 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:600f2fcc-2077-48d8-9812-8c00ab218bbb phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:89473cac-007b-443c-9167-b049e5883674 phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:631502ff-6723-4178-8abf-76d402d5000f phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:691b92bf-caf0-47fd-ac00-e8e36bd0a2b6 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b6b97c85-6cf2-40f1-8728-547bbff9d846 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e00b3b12-57d4-4d04-835f-5e1334c772c9 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e03c69dc-8e84-4d69-8316-d39963cbc58d phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:61eaef49-2e2e-488b-82af-03b6d69f6a27 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3750ebfe-c792-47fa-ae5e-af9ed027774c phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:089891b9-f788-42ac-97f1-b93a776d59a4 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3b471e7b-e71b-45dd-8a74-e17f8c4e0c1c phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:b8eed3d3-69d5-455a-af53-fd1e54a1a164 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a375aaca-a2e4-4745-9ab2-b04cfaba2361 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:25bc2368-787f-4295-aa40-4410da1ae6f7 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:84508c4d-729a-485a-b1a0-3f890c0d082c phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:03539d19-5864-4c9a-babf-2020654f717b phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b0e62915-21f7-4c19-9606-ea3eb2621a54 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:55fdd2a6-e08d-4c70-88ed-7789910d14f5 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:33dd4e73-6b6a-45e2-88fd-0f31f1b56e96 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:80f6522e-1bc1-4904-a7b3-9a42ebb83746 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c68b6bc6-bf62-4bb0-a944-91f5492805e9 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5c850f8a-398f-4315-b887-71467219295c phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:866cba5b-52e4-46ff-a539-dd6ad491525f phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:400b0eae-237b-4db0-8f8c-439b93bc8a4d phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:09ed03d7-c2c3-4933-9d7b-42fc796a45f7 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d4dc3d6d-c98b-42b8-8cf2-88bc02f782c1 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b8d6a05b-24f6-4d1d-a468-fbe52e48f949 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5abb5fde-5059-4dfa-ae5e-419043a1fe46 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:102c5272-8a17-425c-a865-92508edb6908 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c6fa338a-ec54-40e6-b2c9-d592c3e03b3b phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3aff8f9c-d0f0-4312-bcb0-ebddedea7e6d phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:3a44bb7d-dffc-4a39-8168-f647c32a0973 phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:92057a11-0a22-4bc2-b21f-e9ae99b63278 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cfb1b43d-edf3-4e43-9019-494ead78b925 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0930da86-7b17-4e6c-94ff-b4ad67e5874a phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9b129a37-bf3c-4162-8aac-861e3c075df4 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:455a13f6-6987-4fc6-9d06-f391a5e983be phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:914e4244-9fca-47b5-8c03-a382411f9288 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:470668b6-11c9-4a16-91b2-31f6768983c1 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:607448e0-d061-41c0-a592-9c1645733db0 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c099a474-9818-45be-b6db-79230e891c28 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f77abe22-31d9-4333-8a8e-1fd3230d3d57 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3c1dbe53-a9ca-47f0-b90b-15163e1c5b6e phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d7c83f16-95af-4b0b-90aa-e7a10637e8d6 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:259e8dcb-05df-4d0b-9755-cba841cc31a4 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8fae671d-3356-495f-bd19-bd4c8d2c1c9f phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a7dd37e4-d328-4fee-b29f-3f776f7dc506 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:27679418-9f6b-435a-b32c-9c469dad138e phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a6a02397-7822-42db-8e86-60cc0ddef8c4 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:34224d02-cdbc-4f99-b16a-ea42f8cb3853 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d286bbd6-afac-4ad6-97c3-2962de922cde phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1eff8b9d-3f5d-4c60-b2a4-cafd7a8c1dfb phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8d853ddd-4845-4b9f-9f51-da116091df9c phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e8a6c298-70c8-4e5d-83e5-d3a44ca49186 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d538f05c-fa90-4939-902d-f8c8b9a922bd phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4dc752e0-6a1b-4d73-b1bf-fd802bb6f4dd phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:645795f3-b9a3-4893-929f-9fff71b146f8 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0fa731a6-3838-4a41-ac6d-f7dc14195584 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:060b1b10-fa2f-4035-b803-952a631c93e7 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:37408ece-9a7d-4154-9e36-d2fd0f2d8d18 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9949c7ee-63bc-44dc-b326-081fa02c4087 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:25303abc-71cf-4566-8db2-1e60e7c0a2b2 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:d86f2e08-0401-4f2d-b90d-b8b4d9547915 phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:0f450941-c514-4817-8747-f10076facfac phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0f35d7c0-05d5-469e-8408-cc78ffbe438b phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6db84900-a965-4795-a5a4-4e1fce054c69 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:05aeb99d-c887-40dc-b415-3563377d26a0 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:83c45740-e1f8-4ba0-b96d-7e08b8543d77 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:86931e0a-0aaf-43f2-b4da-8c0e0391b713 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:fd0f0f27-3dce-4140-9a78-d8a1d6f23579 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d6cda8ac-22c8-4833-8b22-f9f7a384cb83 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7193689a-9a21-4e70-abc2-ce01ff4042cd phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c5523e6f-498e-4a1a-b64f-29b0d148e9c3 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7900fc50-984b-4fcb-a9fe-029acb59cf1b phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:6c6a1b49-0b78-4664-a2a4-64c870a54aa5 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0002870 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e2e666fa-63a6-4499-9bc4-c8fd72f7f540 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f6526647-8ba7-4919-9fb0-79541e0dc02e phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000567 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a5525d70-8bd1-4713-b1b6-c2bcfbc65fab phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e4c91ad5-1cd5-4066-a07c-cd005ee2aa8e phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e4fdf5a2-5db4-400f-b10b-029dbb7592da phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ba447ed8-9152-47f6-b34d-8f7a689d0e46 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cad0db44-25b2-48bb-9836-4e100f19b696 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:68d356b7-7e34-4796-a6e6-ea62174fe0e7 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:e60f85bb-1838-4d49-aecc-3b8c1cde589b phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1f9457a4-2870-4381-9edf-c727076fe107 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:3c0bfa8d-2680-44ae-914b-ee13a575fea5 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8fae5765-0a2c-44b9-9242-0a0383329405 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a46c42df-7cea-4c78-9e0b-d1be2e6f4adc phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6c6b45c5-0d2c-431b-bdf0-6879ee831309 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:72220852-c079-40fe-aabc-3397d9150519 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:fd87f005-fd12-4250-98c6-bb807eaae2dd phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5c6ab8cf-0c25-4191-8c3f-0f13d61b62a0 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6bc4fd8f-698c-43ef-a5bb-f31f13725c1e phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:35c3fb8b-49c3-4e6c-aa05-f3bd98d2e7f2 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:de89aa17-23e1-4d47-ad86-5bee3835724e phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:ef85ca45-c9dc-4bb5-9f7b-e362686fcd03 phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:d40406bd-e2fc-45f6-9188-fc651a326854 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d68612f8-bb69-4736-ae4b-703f68496edf phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0007018 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:910eb403-8b11-4109-8752-8581eb94be65 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4ee624d8-1c41-47de-bfae-2676801affad phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:46e98d95-e357-4a2f-8e3c-b03ab49134b5 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5f8c86db-0d6d-40d6-b043-b8410d0fce5b phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:bbcc2a4b-cff0-498e-ac98-7c89e4909215 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:705c9e5b-5b81-4786-af97-e43bb4917f34 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4d931b94-5a9c-425e-8580-1e42011979d7 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:184a80d4-25aa-4f0b-8ad9-3bb0c9579a07 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:78975424-fbd2-43a3-8c7b-0e93b09586ce phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:99427b83-75f6-4202-8d88-7cca208ce3b0 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8bbfdb9d-3499-4ebd-89e4-eb7e323ac69d phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:acb21bd6-d38e-44c3-9b46-aa26d1c2b041 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:9ecf0078-63d0-4a4f-8225-aadc71082cf6 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1ee5b790-430a-4308-a226-0f89ba0f9448 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bc57d713-6770-4f6f-a36b-d2a41d321c1e phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7fc0d952-1eed-41c2-9bb1-26e0d6fb9cac phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:152c468f-1188-48cc-b5e4-dc97fe2b80f5 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3e982bbe-dfb2-4957-a1cf-be48de3fd773 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:adb26a16-238c-426f-b9f1-ca0e85cda1d3 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e48d8c52-a08d-442a-93e4-6a6b6ccf6850 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4f69e2c9-fd9d-45f1-8fb9-409ff2462840 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:12fd7fd5-c067-48b8-8fcf-fd3f7c388545 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:620661e5-c40d-46f3-86df-fe79b391d59b phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:77c14fd2-b1ad-438a-8b0a-7741cc40afc1 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1a9c02ea-5d47-4cca-8e29-fcda2365d7c0 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dabb7e24-5f94-42e0-9c45-8e332c313797 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:aba38b25-6fe1-400d-bf25-66c065bdba17 phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ce3bd6de-aaf7-419d-a35b-112d06962e3c phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:8597cd0f-e97f-47db-a327-adb9759fed8b phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:2c4b7d1f-6515-4d3e-9324-ece75793183b phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:92d5de57-c50c-41b6-b931-de12659b450f phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a7f7d555-25b6-45c6-a7df-ddcb8671a92d phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:310ddd84-035b-452f-a3aa-86df934c5993 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:0f7f8719-727f-4a46-8fd9-3262005a9a61 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5ae8b9c9-2c85-4583-ae22-33948d4a4de3 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f3c627b8-d99d-429a-afd3-013240da84b2 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:68fc9393-31a1-427b-b957-3fd3afa02215 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d4ff4d6f-8107-4435-9474-7fb4adfec62a phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d6a87f92-4cc2-4367-97ac-da9c69647cd0 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:5479205a-0a26-473d-a150-90499eb76c50 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:1f42f935-5ed2-4ba1-823c-7d3693404ead phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:8c741c9f-bacd-4af8-bbd0-baaf6136c47f phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:82deec47-dbc3-496a-b320-03dea409f848 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:566eb295-968e-4429-88a8-7651fbca6420 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f3b391fc-fc12-461d-a8c2-9c3b37c84db1 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:49d98220-074f-4d7f-9758-8ac9052e5970 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:83a77084-99a1-48a9-9e3f-9fe4004a8f13 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0fa9713b-2646-411e-bd3d-b7821f7565e2 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b8975243-55a6-455c-8d08-77ef23350237 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:28f4802f-680a-4b41-ab6e-9fac267445aa phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a4facfd2-9dab-4c46-8611-9cddc592042b phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:355a16c3-19a7-4b46-97d6-7712707edf1d phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b4ef515f-7ddd-48ba-baf1-e10727b7c8d8 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c09e0646-0c51-4a31-b436-8a164a785f84 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ad301f9d-00d9-4c93-845d-fa459cbe185d phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d6be711c-38f6-48f5-b24a-465b7b2cc5b5 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c08a3d5f-3073-4ae3-a517-5434aa430ab7 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:925122c1-e209-4084-9aee-ade25363ae4d phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:f97640cf-28ce-4def-9ce4-1b50d2ee4633 phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:9b12e95e-ef1d-44e4-a768-7f57ec7f8361 phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:dc23263b-2578-4e35-9813-94e3e416a7e4 phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a4a56049-a6cc-4dfd-8dd2-7580780d3e3f phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:eb776b1f-789f-4d4e-9e6a-d06ac4dd6ee0 phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c4cc8769-8b95-4268-8bc0-ad15395e648d phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:68e58d60-3829-42f5-9484-05c586ce4c2c phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:cb11a227-bff0-4236-b9bd-3f7aea5f43db phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:240b3267-8cbd-4bca-bd54-3b3ca4368fcc phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:98225825-22e2-4ae8-a667-c78094c7459c phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5e526d5e-084a-4eed-9871-26fe6e39cc18 phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5422c153-4819-444b-a078-da8acca61281 phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:be9711cd-6ef3-4833-8885-47828dd4d299 phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:e83eb3eb-b76b-4f97-9d65-3cff4966181a phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:991dc0ec-e7f4-4da6-9b42-3a298f8cc109 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4b0e8733-59b8-4a8b-af7a-1244b2584e29 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:81dbf06d-ecf9-4f60-9230-05aba8d23cb5 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:97d9dcff-013e-4cc3-9bc5-ffc961cac664 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:aedf10e9-421a-4bbc-be38-fa4d82cad210 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:861ec125-c63d-45bc-9699-a206c72d06f3 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1bd82ab5-15ec-4017-80e0-2ad848960c1a phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:feb22aff-44fb-4432-adf9-de9e278adbff phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:d6959b77-a382-48e8-bbde-9f4856e0d735 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:949e8701-1a48-4d9d-9351-0ad6ca472965 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f7e78d7e-fa16-4f79-ab4d-b22b760d6a66 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:04799b0e-f796-4d73-ad15-4e216a033b35 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5b59b3a5-20f5-4866-bc87-1194c1b9fcdf phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:438206ed-923a-460c-83ee-7154259607d4 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e12d81ca-f420-4a0e-b323-e780fd823c9c phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7fb3f489-da2d-450d-b5a0-a798a7dae1bd phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:02f8c06a-4ee9-4a18-9b55-1b4072b87407 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bd0bd47b-3628-4711-ab3e-533d03de6eba phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:87f9cdfc-f26b-43e8-9239-8dbf9a5991bd phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e981556f-43ba-4272-a712-ef5fe1f14123 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a05674ef-c4cf-46ac-9027-6687f72d435f phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e3975213-d81d-42c1-b8d8-a9cb73cfcbd4 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:63e72ca5-9135-431e-b4ca-dd02b124cb31 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b1c10b57-38d9-4165-a1de-ef9d642c555a phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:258cdfe5-0e3c-45e5-a374-7be2ebfad93c phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3eff9c2c-08b7-4c8f-b437-d0e21b40ae5c phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:0f84936a-8ff8-48ac-86df-b71d9d989925 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4428b509-a63f-44ab-b864-e7bf1f91b5d2 phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a0bc0e25-da70-475d-b354-854289e2a3de phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:723aab58-94b2-4c3c-85a0-987aaccf07ec phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:afe2c54c-1dbb-44c9-8793-2332017ee913 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7577ee94-59b6-4a2d-aa0b-09898b32a0da phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f9d4037d-85ea-4ff9-a532-e8d1734b4fd5 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:713fe194-a4b1-492c-ab46-7594ad376e1e phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:41e42eb6-41dc-498d-a7fe-7318c9a4bc57 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:7aab62db-1b2d-4ebf-adbe-a6087ba14404 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:ca4c6f78-e7f9-4fe3-93f1-b0769f835645 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d0c518bd-e62e-49a9-98e6-629d257971bb phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:90d91a9a-a945-4a41-ab3b-07a4a20a9d6a phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:71abd710-d8d8-4e1b-9b36-770a39a84b7a phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:7519c5ff-da5f-41b6-a1bb-88cd0f86f459 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1c4253b4-9851-4205-807a-83cc3d714317 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:54a100f8-7436-4345-a34d-449abce1d06a phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:281b158c-3470-48bf-b0fc-bef0f890d4b5 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1709ea4e-9f80-4bfb-ab21-0cdb3d67aded phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:2395e352-366d-44ca-ade4-085c04c59e49 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:98bf4984-d2ed-4dcb-9bbc-f2754b73ac2c phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e70e4d59-14f5-4ac4-b186-938ee03474b9 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:cd05d5ef-959a-4c71-87b2-ef5b4afe319a phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f0beedab-7f88-414a-8451-8699595e6528 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4a251a80-6b64-4a88-aebb-417ac8f1303a phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0007305 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f8b4d796-65b1-4599-8bfa-392cd7536a72 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6a2943fc-b3f8-459b-bef4-d3e8ab3714b7 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:32ff990d-204b-451c-8cde-a8dba1d36b05 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6dda8100-e372-480f-89b7-dd37cdb705a8 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:dbb3f9e3-d365-4324-8a42-159d5c269ed9 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f3e4e6c9-7d75-4872-ab22-92478c2fef29 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:bfb7fa0b-6d82-4d7e-8f6a-8b0f5bf187d2 phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:4fcd8998-c99a-48eb-985f-9063bd45f25b phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:ad51a5e3-bc41-4bcb-a377-2a47da18a36f phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:6a289370-8a33-4858-a451-f20ac20af6cd phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:e841547c-3a23-4328-8e5c-a362cb4eacd1 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000750 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:a19ad58d-f2f2-4937-92e5-1b88f4fd492b phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001270 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d54761c1-8281-4090-8afe-511add8eed0b phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000365 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:9c14e67b-4122-4296-b510-3e32b629e38b phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0002263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:4afa359c-d1f6-4a41-86cc-6d9996cd812c phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0005487 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:096e776d-186d-44d4-b974-cdf05e394b7b phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:f02fbb39-e549-4287-bfeb-6c74395174ea phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:d6ea5e47-c5e1-45f8-9075-0d30d1bce4e6 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000289 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:de47a74d-e8b9-4e50-95ff-2a65c07bea59 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:39069253 uuid:c20d4a4e-ed62-4b12-9a35-4a34a693f242 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0011968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:482ffd19-e0a5-4328-8ae5-88814c8b1006 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:6b09d626-329c-462d-94c1-8955ba133fbd phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:e5b40ed3-9043-4509-b41c-ad94849a1051 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000463 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:66f6069f-328c-4392-8a92-be5153cd6dce phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:c6991ed9-2259-45cf-83f4-d8ed43b77fe7 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:222d96a7-d819-4bb1-99e9-5fea26db2ccf phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:49f42b37-a777-46f1-8a6c-445c54180331 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:64ede5c9-f579-486d-86eb-8dab7abab83c phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001840 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:258815cd-b899-4e90-b199-25641a67a396 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:5273927b-b0b8-451b-8fd7-89c6af1699ee phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f0c478cf-d894-47a3-bd6c-21ced80e093b phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001669 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:a57fcc93-7bad-41be-b593-59c301d09add phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:b452c1e5-f42d-4270-8154-d77a2137579b phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001719 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:f2b2a946-f11b-4d46-b8a3-ec629998ee58 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001643 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:3e9fba47-6306-4807-8438-5be8a5e7176f phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_phenotype HP:0001647 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:39069253 uuid:1bbdf1d1-546e-4edc-a15a-64058d2047e0 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_disease OMIM:618619 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:9578c786-49c7-49cc-8c8b-2e2dc4df6764 phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:has_gene HGNC:21684 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:39069253 uuid:e80da709-56d4-45e3-9a32-a8ccfabf8c72 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:7ea4c07b-82ab-4d3a-9e14-95a6aab57689 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0010559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:83532024-7570-4d87-b604-5c6aed175912 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0002690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:c36e23bd-ff3d-4b72-9ec8-6c1643a1ad89 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:5b749754-e16b-4b01-bb8b-d0cfccc937d8 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0100629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:176e5a30-aafc-412b-a8be-f009d4c890a6 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:19e98006-07a6-403d-a25f-40481a9f3e47 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:89c47ec8-6615-4b7b-9924-674468b13590 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:7165940f-a241-433d-a4c6-8323e819df51 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:84f6f00d-db37-4361-855d-f471fa17ee32 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:69d51b30-0ff5-4534-af6e-348e5c742690 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:0447c874-1695-4979-af0b-9480a4e94eba phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0005462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:7028af54-fbfa-4e57-8bc5-7e9e939f9f42 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:e13b3cdf-56fb-4459-947b-065eccd379b2 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:dffd6c91-1531-4a8b-87a5-ffcc5c450a24 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:bcd8961e-f244-4ccd-8d96-a3a465ac2d0e phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:1d42094c-a1d4-408a-9484-4dce5bc06da0 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0005736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:71412ef5-b0ac-4141-809e-8dd5850f71e5 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:492b8b8a-aaab-4a39-a869-7f5667d73e6e phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:4e0dbb64-4488-48a9-910c-bbcbc9d11b66 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0011819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:096f881d-a30a-4565-86c6-aef63bb2b102 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0007968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:57167e33-dba4-4e7e-bc59-da52a8f3f873 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:1f479bb1-25f8-4644-af48-1a8fa206185a phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:584f2192-3376-4fd3-acf5-51c1a86225e6 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:474933e4-45ec-4d87-933f-c1cec1a1fe5c phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0040075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:63b81692-b441-420b-8575-2dc0a223445e phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:8f00a774-1c58-47da-9446-91231399d5c9 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:4988a7fb-3f50-4d5d-9721-874872fda702 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:8dcff881-0f9b-47b5-a99f-d903609d85f6 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:6a8312c5-b846-4148-903c-057f0fa090b9 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:6839111f-e69f-4e69-b067-1b9e07dfe6c9 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:47376085-78af-4c5a-af3b-bcf4dcb2a800 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:d9109322-5397-4e10-9f9d-81cc106f93c6 phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:e547f9c7-41cf-4fc0-a6d2-085178a43d7e phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:9adfea7e-1cd1-49be-8faf-5b767a1fb4ff phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:074d1af9-4718-4090-8253-78eb40367a29 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:41507d27-9eae-4cd7-98e5-0ded2f34cc7d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:f4e52a25-f3f3-4b1c-acd2-e18435f15444 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001250 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:6c47600e-88d9-4e7f-aa8b-e93ad65c7694 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:0b71ce40-2f11-410e-a42d-6fa915b142ca phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:5b3f0c9e-6e50-4495-96bc-6e1a378aa26f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:f3665504-1e64-4f02-9960-dffee80ff8aa phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:dec00083-fc71-437c-8eec-26a2e758046f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d312788f-6edb-4261-b33a-bf3d12faf21e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d1c3a4e2-d179-4f65-9bc1-4a27b0a1d944 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:a66845ec-d129-498d-b4a6-a0899597db3d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a036603b-6773-47b4-97dc-7974e64587cb phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4dc8a68f-b72a-48eb-90bc-defea2c6796f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2abd7631-fb62-441f-a009-5b14dfaf4ed8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a55ad166-47eb-45d0-bc7a-4c18b2b8b3f0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9c93da09-56e8-4b46-8dd0-fb6280a76be0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0377516a-9594-4143-bbee-5360b75bbe2e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6791711d-3942-42fa-9583-4a12fb45ff03 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:d65dd628-017d-47e8-8b59-3d1474e20cdc phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9b3257dc-bc75-4e10-bb29-0f802ce8a668 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9f2e5201-47b9-449d-8be5-98130863ed20 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:fd06ef56-2499-4a18-812e-f6c9e7fa1541 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:d3cad1cc-1a2c-48f6-8f10-9adbb69dd9c0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9417e2f6-8f86-4b43-a528-44afdcaec27a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:d0f6fe5c-7ab9-4019-bc27-6797c77ee48d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4c03a218-911c-4e08-9e39-332fd6d91e26 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a8f94dfa-6fb6-4d4f-a6ff-ec36caf5ca96 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c07cf804-46e7-409e-b350-c1974bc62817 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9895947b-4d43-4f3a-9a12-b4fcbda052b4 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:42d9346b-8e24-46ed-a0ed-ca40a37fbc55 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c0b43535-5de7-42bb-91fa-58da94303190 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ed4b25d1-c3e8-4dd5-a715-0cab21a4f3d3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:16be32f7-00a1-4ec4-ac1d-e88ff2eb62ef phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0be99a29-08dd-4a7a-9309-d3299bfbb18c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:61007ae9-237d-47c7-9cac-28c6309f4a96 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ede2a9a9-11e0-4e59-ba0e-70288cb5c499 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0c9bccb7-ae80-4e34-9e11-9dc345a45af8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:e570057f-85dc-499f-8f1c-a421db1f4164 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:8fc30d40-cbfd-4c92-a3df-04fa6e57191b phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2ade75c0-2e28-4eb9-b517-a282caefe010 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:304e891b-f245-4a4a-adf5-b2c55541c4d2 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:1bbea1e2-b705-43b3-90fa-231f3ebfaf98 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:a4800649-0c47-4716-afad-2f8cf84c73af phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:8fc4b73d-e459-4c72-9c60-41bd22b98e9d phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:58de8674-068f-4fcd-b19d-8558c0eb322a phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0100629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:9e738d52-8907-4889-aba7-09db1a8a5f14 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:74e2509a-ccc6-4bdc-9be0-8e8d772dd6d1 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:a85e8381-db4e-431d-bdb5-2c5d5839efc2 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:bed4250e-2a3f-4e6e-a538-1aa0bcc618c9 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:2d3e682c-88df-4b44-a9e3-ffd2dd6abb61 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:003b7801-249d-49a8-9740-a2fdd9387054 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:22ef0582-d4dd-44a3-803b-75fbf0e2e40c phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:9302d049-6154-42f6-8069-015549d611ce phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:03a6463c-af70-4496-b034-c1a14121b87b phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:aa6de94e-4c31-42cc-a684-c07fb282c271 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:5033e3d6-d8a2-47fd-8d5c-b06ccaee36d5 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:4fd28618-602d-4b60-bc26-9a157f385099 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:62431f47-ee52-461a-883b-335ee1bdb297 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:d224714b-fa6a-4ad7-a1fb-abfd78dd8acb phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:b9527db3-00bf-43ff-b9b6-0f3733411471 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:e1bd6451-9628-4be7-a5b4-d77739f7a185 phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:39e2c5e7-9260-4c61-9ccd-69ba47c12ea4 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:2d119076-9364-4dc1-a34b-5caad3d2e5c0 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:bcfea907-4fa1-45d4-9cc8-7796896345ac phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:6de11e7f-4f4f-4043-aa8f-6e72efd41b88 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:90fe41c3-7034-45fd-a199-f3f5216c7fa0 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:56ddfc4b-301c-4650-8b1e-618af2d2ca60 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:e0e28a61-921f-4aa7-95d8-ea0e67e3a81c phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:ed2db2ff-cd75-423d-8621-2d962cd348d0 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:76a27100-4e31-4bad-87bb-d3403eb1200b phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:cc060fc0-43ee-4c41-941f-97ecf9f6a6e1 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:f5d4d5cb-72ea-4949-a26d-966eb27e30bf phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:53e21b0a-5893-41cb-b550-4eaed562e8a9 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:cf66e123-99a3-4c58-9a8f-6b0a3045afdd phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:4fd233f1-ae3f-4cc2-90e9-625dad49244b phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:eaece360-5c6a-4bd3-aec9-279f56d8c6e9 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:fcb2bb8c-0bed-4575-bf0d-a03faf403d48 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0010559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:dc70246e-1608-41f5-a9d7-69e5bbb1f533 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0002690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:9b6be61d-8233-4b8c-8a94-b8707e58a780 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:c30975ee-b5c4-4dc9-addd-194c278dd02b phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0100629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:4859f9f8-bb18-4ee1-93f8-6073bc5800b5 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:58129702-57de-4e62-82b2-3f96265483eb phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:e36cf96d-a97b-401d-a3ee-cae958d84276 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:e10b8905-5897-4f5e-b79d-ec785821e81d phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:ecec1e57-75c5-488c-9bd3-4c52de77c86b phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:e4dad244-a311-449e-91fe-e523f81be7fd phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:7fc177da-5223-4bbc-8813-d4295d2cb3c7 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:d3e217d9-cfa6-4b57-8856-d2cfc64a317f phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:fb2e06b2-92cc-4c4b-b20a-781906d8293e phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:62dc4717-f8c5-43c7-a74b-fa2822254f23 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0011819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:d8179793-77a4-449d-a543-caa16388e3db phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:c31cf63a-4087-4a35-9ecc-a23baeddee27 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0005462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:7e1216ea-390b-47e7-91a7-5780a3b4ec55 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:5938fca9-5981-47c8-a54c-7516cdfe9359 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:ad333df8-6e26-4092-9acc-444a0f9287c1 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:8e801b84-0181-48e8-aff3-2b83bf7fd2dd phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:2dcee38c-477c-4a10-a25f-076b0c394268 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:b0ee2923-f46a-43d5-9802-a87e4f15cb74 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0005736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:e8c4d2e7-6de9-4386-9dc9-a2c1d71a5082 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:90b517cd-13d6-4fcd-935e-ddb1a4ec2866 phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:ffb51aca-61d7-43ca-8f46-846703e3f02d phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:581a007a-f07b-407e-81f1-32f121548233 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:3c496010-1622-4eb2-913e-53ccc27ccf6d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:2c9522ad-8fba-457a-9e84-ec6ee4cd6e14 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:9296b857-92fa-4ec1-b6d5-d59d8708a804 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:1a934319-e39e-4e9a-b132-f52540c7282a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:82a81df4-63cc-4bd8-b9a7-3b35671701d2 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:40560b35-2606-4bd6-aaa8-ef9a3e432f58 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:9b375729-153e-4f32-8e3c-2fd21a01ba17 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:23eecc24-b9ea-4b1a-a1e0-613b0e9670f3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:09d58efe-a23c-4510-88e1-ad4e5ca80d81 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:beaf15de-7e5a-4943-91bb-95615f7396a8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:0fe23e24-bd34-4389-8c75-020abff52b3f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:1ebd7427-a94b-41d3-ac6f-ec47ffccbe32 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:960aef55-cdf5-4c39-b9f6-00cb761ae9e8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b0dd646e-9f15-4ebe-8b60-7f1be7c14274 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:ebc8c9f4-11e8-4a93-96ed-02c88e102a66 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:42427b24-b9b3-4b8c-b22d-42c9fdc6334f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:5614dbfe-1ca7-4fdd-b6dd-3094fa10c305 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a4a6a082-44c9-4041-a2f3-693bbe234360 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6f706e1f-f9fb-4c21-9f58-5cbbf8e38a03 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ab321225-a333-4e31-ba21-aad103ab8fe5 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:7a779989-3a6e-41e4-8467-50aeb155033f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f78e5383-fb12-4230-9e02-4129b630fdfa phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:fb8fec3a-2026-4318-b06e-3c2e6475bcc7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:e6a79f41-5b97-4d07-bb92-0688addd49c7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c1bfcd48-3191-421e-9707-abd195e5b030 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0d0816d9-0fe4-4c31-8362-be28b8f2013d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c2d0f481-79db-45b9-ac67-421d459788b0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2627e690-09e6-4ab6-9650-fe227da8c133 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:656bdc53-9763-4a2c-9b90-1bd83fed6d94 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:97fea812-9eb5-44e1-a090-8b20ebdeec4e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:7ad9ade6-92aa-4b0f-a377-3d3cee2cfece phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:988d999b-0324-4f79-ab75-1ee505668232 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:b4a2afd1-65b9-4cc4-b82e-b4d79ca42a9a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:dac7f9e6-7281-4bf3-97a0-05723c491bf1 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:006425b8-0670-47e0-8025-81326500ffb7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2d5f6181-d4ac-4173-aaa5-3a5bb0430ec1 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4bd4e6e1-1df5-48a4-aa48-3742f141d38a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f7a98fe2-de28-4cb6-b8cd-a5da6042776c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2f3eefa1-6eda-4369-9af1-b5ccea4e0aa6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:994cdf2e-dd9e-4df0-a6d2-22303fa61ae1 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:78c980f0-e5cc-4e15-962f-09b77f89b3cc phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f34b2599-c079-4676-b0d7-19e7d6b21d46 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:025cae6c-aa81-40cf-ae15-e613e6bf615c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:7eac20e4-50a1-4d42-8f76-31789cd06a85 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:e9e0bc02-6f6c-4790-ae6d-949579ce84aa phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:fc4f2ace-2aaf-4b29-bf62-772b63199000 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:2f0d19ad-6456-4e8d-89de-e69b10c50515 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:67a22196-56ab-41b1-9955-de8c1a7b26c2 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:6addef35-53bc-4f7e-b45f-f04066229ffe phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:2c8ac8c2-ce58-48c8-a079-675487f674e6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d18bb866-bd1a-4b2b-b841-d19a43e74149 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d4853a85-f4d1-4193-b19f-1b9a78f69049 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b10678a9-a26e-4f20-a484-19f439021432 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:0dbb5711-0d77-43a9-88bf-3dbcb1f2139e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:432d1dc5-0411-4d2d-8801-213d2fc76b78 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:912553a9-067f-4122-98a9-6328451f6635 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d9acb821-b566-4b00-8385-c28ede34e823 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:5aa9d5d4-1bf2-441d-bbab-8ec3459d27fc phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:1bb4f3b4-90cf-4e6d-b271-dda5dfadfeec phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:adb39aae-a5ae-44af-8793-7913d79dc7da phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:7bfe2839-eb60-49fb-92af-c6743d5d5391 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:bf4fa969-3c6a-4ddb-b423-2bf9a9f187ee phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:45ba6257-f4e5-4a5e-933e-91fa3551f430 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:551a17d9-ad78-4286-8e20-043bdba3bf85 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:856d9554-8b74-464e-802d-f92c1b82c771 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:55410fa6-07d7-4c63-a3ff-da0d1d3ed3ae phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:e8dc4801-acd9-4f8e-9ac3-942cfd5d3536 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:09647517-8130-4aae-880f-b401e0d77571 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:8314c39a-965e-4c72-baa4-b006f8a581de phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f2eb720d-bf83-4b90-8955-cc8a0668f07c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:748d3104-1ba6-4a9b-87c6-ee8723389ad7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4b59afc6-1edb-4981-a071-8e7eb43d6c02 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9cd8c250-840b-4655-8ba2-2a01db2d9139 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:614ef4f1-656a-40a3-a38a-045304c3343a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:d966363c-def6-4dfe-923d-18b9e8b08525 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c3f6c148-0b88-4ac6-b511-6ce6ca8595b5 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a0a700f8-5d7d-4ad3-8587-e1e2006d573d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c1ead1b8-52e0-4515-8af7-cb0e37f78ce3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:b2378036-ba9a-465b-a190-ab747daf9f89 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:762949d1-3fc5-42e5-b983-bac3ed869047 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f8d236fc-3076-464f-b27d-390836857013 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:caea902d-9d8e-4cfd-8795-24aefd92ae46 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6bafee09-a803-472b-9a2d-64d8a22bdbc6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:094be3ff-8b3f-4a8e-ad92-eb9275c8e662 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:349a4018-165c-4520-b9b2-376748b75a0b phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2587eb87-f333-4d84-85a6-bfe2ba002a0f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:1b8dd526-ab9d-49b8-8a70-8d604244ebd0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:699c78d4-d6a2-49c2-b402-695a3b8da7c2 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:6a0eed60-cbb0-41a0-a5ab-11726fff4fce phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:310433d9-a398-44eb-94cc-4b5edaf8b51b phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:791f2f44-83c1-4ed1-ad46-9e18d99e9a5f phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:00a882d1-2bb0-4064-8b36-198ea5f77922 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:4ef5fdca-8202-4ce3-a4d4-4d41c1ba650a phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0025706 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:37150d0b-465c-4483-a094-cc46b21d54f5 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0004987 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:33776626 uuid:ad1c2002-ea90-40b6-9607-15a1a3841830 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33776626 uuid:d3a1433b-8685-4fb3-a0b2-1d7fe722ede2 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:33776626 uuid:7bca34fc-ab13-4c0e-8870-7689dff599a7 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:33776626 uuid:01d4ea0b-4d59-49bf-bec1-b89cfbad01a8 phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:33776626 uuid:969de009-2098-4723-a362-a13a9f8c2165 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:f11b84c0-35c6-481f-a84e-8840b303b395 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0010559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:33978fbd-0d57-472a-afa1-89978cb1063a phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:645dfb9c-f6b9-47b9-9f37-f0119672b903 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0100629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:00a9b83c-f045-492e-a634-464b09b99516 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0011819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:d18d1183-3fa0-4f2e-9c2b-e851dd17784a phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:774d740a-1a6f-49be-bf37-29f892ef153f phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:8f42f8cf-0f10-4940-b520-5a22d1cd9b63 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:2de7aff7-e010-4724-9ba1-323719c42c15 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:6fca2186-4af8-4de6-adc3-91bed0cc8087 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0007968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:4daaaac4-bed2-40e2-aa86-c68927063efe phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:4e2762a2-66db-450a-ba48-c1f732ef8b41 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0005462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:69ebf37b-702a-4209-b761-90b1254a67c3 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:77e84b2a-1de1-4139-a53b-4d33e511f939 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0040075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:066e76ee-ed45-487d-a166-2a9d6df9c473 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:284034b2-f45d-43e6-bb47-cb504f99c9e3 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:1f70fa9e-6fa9-4083-876d-cfdbae2cffe5 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:2009836b-eed8-460c-8879-562250a50cf5 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:bc7c0aa0-3153-4dd9-a43b-c22dc9e66da9 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:939c5e26-98d4-4656-88e4-ca02abcc5f1c phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0005736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:0c8d704a-ad37-4642-bd28-4580c42e906a phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:c461defd-7414-481d-b0de-665d2711fda0 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:84f15ece-622d-45ed-8f1b-ddc688ff0010 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0002690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:8ea602d5-c913-43ae-93b1-2b0bb2cbdcd7 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:169f29f3-35a0-4a67-8fba-1e7dd776e275 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:89ea63bd-562a-4c92-a93f-bf93ebb87be4 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:4cb02014-deb4-4da7-8fcf-c85f2eb16a4d phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:f1a57b51-7f9e-47d4-bf67-7d0226e790a6 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:75067aeb-1088-4a0c-ad95-d40d492002d3 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:ac7a055f-877e-4016-96d4-e0fe781b678c phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:18936448-63f4-4415-85a9-f6499579d7f0 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:2d7cfaee-2443-4e47-a251-750911ec7869 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:30c5d646-a8d6-469c-81b1-89a819ffbe51 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:993e294d-3fbe-4199-8c0d-26e077d03c32 phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:0df16b5c-0daf-41ee-939d-a5a8678fe980 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:819556fc-fb4b-47f4-9c9a-fde6c3007434 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:7f25d204-d891-48c4-8e21-9da423c9733e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:c011cd3f-98eb-4d1c-80fd-d45d8fff0395 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:4517ce06-bdc2-4442-af16-7fc31ad275d9 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:13b9cd4b-aaab-49b0-998c-5ccede04cb1d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:205d4a1f-c438-4afd-8649-54ab38bcb074 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:fa29c36f-0e9d-4cc7-b827-804e948f53f5 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:1b5a4ceb-bf01-46a2-b238-a7d13974d735 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:939b4d0f-79c5-479e-9e1c-334ad4fa2353 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:88e187e0-9415-4cb8-b04f-6b80984a2be1 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:9f7d0e48-42c5-45d5-a8a6-95dd5028557b phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:de296b99-0bfc-4334-9fc4-dbda1c77201c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:1c36aa52-b81c-4cf9-ac48-15b7a1008e89 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:97d8df13-2900-44a8-9f2d-b0954b495d9c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000189 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:0f31f0bb-5123-4673-9b4d-dbbb17902459 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:cdd25af0-3eb0-4e00-8b33-9010160b7ae3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:dd309280-bb08-4f55-a799-a31a657dfdc0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2bae8415-18e7-4df8-accf-29600d04948c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:60f38ea2-14a9-41b1-926c-9ae15aed2d7d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:880221df-0055-45b0-8223-d32c8a661fc6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:52ac8233-0091-4f33-b3dd-6a014edad825 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:1ef59ce6-a580-405b-af0f-6f4df3348899 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:8fa46160-4e8e-4ad1-a8ba-4ca2e8a912ee phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:be224d35-5695-4313-a088-260acb48991e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2ee9a333-f205-4916-b362-5acfd73f4d4e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:e192d5ef-8c04-4ed5-8d69-e2f62e1c2f49 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c192d249-49f2-4aa4-9745-e83e7233d922 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:162658ef-d42a-4ed0-aa5d-c6cd9ee40cf1 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:fdd84102-57c6-45f0-8c6f-6db4b1874c03 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:419ed946-c73d-4874-8249-9dcd4d11ccb8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:5c285de6-957e-4cc7-adb6-889531f8d5d6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2dded89c-a502-49c1-824b-281761b80e2b phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ac1591b0-0c13-4d0b-9d67-2aa86fef6a19 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4ae40bbc-2d3d-434e-96a8-15e55a8dc635 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:111a215b-90bf-4a8e-a50f-1207c3a281a6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:e68bc22e-d706-4e86-b3c2-ec65319cc8b0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4c5c2bd5-ebcd-42c3-9ede-9da8f4516eef phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:256d95cf-5922-4175-a081-dee9647292da phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a4d53235-ca02-428a-a37b-8b096dfe3d76 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:fd14e68c-3665-46a6-b522-44706f6ffb74 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:d50a3925-ba80-4b10-980a-fbafa939fe41 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:3547a5a2-6192-4fae-aaba-b93674831cd1 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:efd69e27-a0ab-4bff-ab1e-a8ab185d8197 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:8d99bfef-5a25-4804-aab4-042631fcbd9f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b54fcf54-b1c8-4e91-9e78-f0b7d3f851d3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:863efe15-6aa5-4034-8fdd-1d1215f4de3a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:7d16cd45-4a08-43da-b17e-27ad079ab679 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:fd8487b6-112e-47a9-a871-9ebf19ba47ed phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:dee46a7d-5729-421b-bef0-6520b568e9d8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:c386a1e5-63a6-4c8a-9173-d3790fea6285 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:99f978a8-e7cc-420e-9bc6-bbf29c3d491e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:a4d40cf6-2f6f-4233-8b65-2beaabf98777 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:68110838-5c00-4965-b4c3-245e4b32f14c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:45660f89-51d2-4b05-9bdf-d8440bc174a3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b7a595ec-34d8-4899-a2c6-bdd8ec81e993 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:77094b91-0ec0-4c93-bf3b-b6287a25fc6d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:de8707a9-68d5-478d-9c76-e20f4dcc27be phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:5212d13c-32f2-436b-abe7-e22c16483c7a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:44c55bf2-a531-4a8c-bf11-02dd1a6e6aca phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b86883c9-a771-4f5b-a708-3f951c1f8293 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:217f6ec9-02df-48ce-ab12-afa15b56e3c0 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:bc75dbc8-9656-4e0d-afeb-b7d8c36b9161 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:907cf2a0-22e3-4b81-9b23-61c98e23d531 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d4d0bfdc-6d42-4852-8875-0b3b6e6c6dfe phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:1f1b6552-6c4c-498c-8244-c692f3f07636 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b2d4fb09-c922-4027-bfc6-36949f9bc0a2 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:adf9b378-641a-40a0-8875-c5067db29d2c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:45f66e81-0d8a-429e-bb75-16b73cd89221 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a0fb5be6-f48a-432b-a592-31e098890c2e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:3e465297-10a9-4b1e-b2ae-c2c5c0be9d2b phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c929a0c3-4825-404e-a85e-c9fbc4a067c3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:63dd630d-de45-4b08-b847-bfdbf19fffcf phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:73d39c85-e9a6-481c-9ad7-8adc6c4a60bb phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:983c1148-1252-45a9-b322-1e99c80c1ebb phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:fbe416f1-5abd-4926-9b29-665aab926f74 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a83fe736-d39c-4e41-bd91-9a04197189a4 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:572ce416-096f-460e-b251-66eb0650a07a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6d289aa4-8128-40b9-b602-d1ffd42d2476 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9e026544-662b-4005-8c6f-6871bcaa0572 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:126e63b7-4de4-4469-a850-f6701a543c61 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:7ce6792e-4ed9-4927-810d-2b7ec6a597c4 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:daabaf88-e0f3-4fb8-808e-cdba19fb14fa phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0f25fd04-3f99-4fdd-817c-642b131ad1ee phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ecee391a-63e5-4462-bf62-cfe0483bf99d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:8d64bec6-d40a-407b-8881-82ff12ad07fd phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:45981f76-94ac-47d2-af1d-971f08e9d359 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:ab45fd08-4805-4dd9-ad64-d3bab9d90b57 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:d9bac21a-7327-4ef4-98a9-be4a2755c4ea phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:2fdf0e23-d563-4854-a04e-3078ef243ad7 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:deb0f420-0d63-441c-b718-3dd937d2f6f7 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:469f42d4-850a-4e40-8844-c223feb038ad phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:5f0b1c33-9a33-4e08-81c2-da3c0d985ac0 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:5040eac6-5744-4345-a72b-54d753010063 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:ee4641d7-bc36-4340-9e85-c9d7176b0fb3 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:642ca6a8-8045-4af4-8368-1e9a674c5c27 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:1962ebe0-9fe9-4a6a-a4b0-0abfd47043c6 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:1b66b537-bb8d-4028-81d7-078ed6d8d0dd phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:bda86a4c-0451-49ec-885c-e8e9686f333f phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:aee7c78d-c459-4ca5-b5b4-04a9da6feada phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:d656ab63-632c-43c7-8495-6b85030c96c6 phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:ca0ebd94-44bd-47de-ad0e-d8a165d26a31 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:dc548fe3-970c-41d4-becb-4441316dd12a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:4ef07b2b-9b5d-4b02-9779-aa7fc2c48aff phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:bb75b230-fdfa-4bd3-b2ff-9b3d6029f964 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:a00fea1d-2057-495a-93a5-fb127895c53a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:eec868d0-813a-421b-b456-c14863caa654 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:3114d415-d1e8-40d2-90b2-e70dc9189c10 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:e3853263-8934-4f11-93fb-aadf885e1931 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d3a70e5d-bc29-4c80-99da-799d76b76f9e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:b42e5083-a182-4f54-9a45-710572e56b03 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:f7b91a7e-b06f-4252-977f-19931e480062 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:2d60cefe-ae39-4a93-a1c4-46700ec26b26 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:4fadeeb7-8717-419a-a457-8c79c4629946 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:0bd6c37f-1645-4fb2-8184-412389b99241 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:96ffaa4d-9464-48bd-9c56-030c7af88bd9 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:8b61085d-7367-4683-892e-e86b31c0f6f8 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c47408b3-126e-4329-9c82-648dea14421a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a741181d-d6f8-4744-9d11-51c3576860f3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:d427fe33-10e3-496b-bd4b-15f59966c364 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:cdcbd20e-a016-4d21-aadb-a3f6d6beb119 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:71ef52cf-d9c6-4495-a2bc-a8d517210d4c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f8238cb3-7048-45a2-be81-09f885d611d5 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6f4fbd5e-c83d-4c46-94f6-824bdcccd30f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:b731d583-5b2a-4d52-bfbe-ccd5d5466152 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:bc35c719-68ad-45e1-812d-3ecb537abecf phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0466dc85-108f-4c49-85ac-ed6f45882fe5 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:03813484-65d2-4a1e-9357-bc32ced0db05 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:205cd432-3fd2-47c6-8c6b-9ace88637a97 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:7d985338-ddb8-4006-a6dd-1dd04ba579f6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:af18e136-5659-4a7d-805d-7208e877bee5 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:27820522-83e0-46ee-a0bb-904420e4fa35 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6d637743-8c42-45b3-bc9d-8299e073d4e7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a50682a2-9699-4fb0-b8cf-af595c04ed4d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:67d7e8f7-b281-463a-b82f-91e1e51377d9 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:df2fad9b-38dc-47dd-8712-a42a352fd50f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:5dbb95e1-e054-4428-8f9f-b14a0bc44d5a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:66bb0a64-ceb6-4d10-834d-5bf91242baa7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:def98360-3436-4b0c-b968-8e7bb9aa2035 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9b2591ad-8deb-42af-890a-c5ff755964bc phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:5757de75-a8f7-4d71-a930-c799f846d2fb phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:410150b1-d1c5-45ad-8e78-bd15ca4b5c2f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:88a3fd43-b650-43ed-ab45-f5d58fed3838 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:4f89afe8-b14e-44b4-ab27-d74406878e44 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:fc3b1cb2-fe3b-4fb5-9349-6abf546f774c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0100703 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:45604591-253d-40a8-b921-530ef038ba58 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001251 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:01de8f8c-ae7b-4c00-aee4-ecda0635e789 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0040082 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:dae341e2-c860-4306-b820-f4139e3f5612 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002317 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:35115f8e-05af-4ad9-b172-74f59f0c3706 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001249 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:52fca1ca-9aba-47b1-b68c-5974df1e362e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001344 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:f19613cc-c1b5-49a5-89a5-63d522941230 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:5c2e18d4-4aa9-4e7f-b15c-7cd667027602 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000486 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:d224030a-e0c9-4e2b-985a-6811e7e5bbc2 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:f38fbaa8-edad-4873-b5ad-6ad842aca5ce phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000252 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:29198722 uuid:5f8bc6c1-3925-4dc3-80a3-9429d05cc939 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ab0a699e-a6e3-4ff6-b2b9-a7ae889bc48c phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002505 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:4a46a4da-41e9-441d-8a1b-30afa08cf9fe phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0012469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:43106357-6e82-42b2-a886-9bbccb019d18 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002384 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:57d53455-954c-4dba-85ef-480a3060b53e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002069 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:abae51dc-aff7-426a-ada5-4c01b2172132 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002121 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:ab67013d-791b-44b6-8ca0-3e85b8c3fa1f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001257 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:9ba50f18-f2d4-40cb-8720-af1720d81d75 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002120 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a96c3b6e-548c-49c5-ac7e-4b38e3c3d29d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000729 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:74034df2-a336-4264-bfbb-9f3cc89986dc phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0009830 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:b8c8016f-478a-47dc-8761-a33a306a3d48 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000565 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:5bc4de70-7f6d-4ee7-8549-427c15569dac phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002020 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:f9002c48-bbac-4069-960c-21ae486c25ec phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000664 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:03469a6a-28f1-4bef-bd0f-ae2c22e8d294 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0045025 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:7a8732d9-5822-4ec7-aff8-b33315a47f6a phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000276 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:8e98fdba-e049-49e2-b763-3a6fa795bcbe phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002705 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:b649de21-b421-4a92-8beb-d3db655f32e3 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0011228 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:a583682a-53f6-4389-a4b2-822c5a589b91 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002553 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:0f0830c3-d654-46e5-8c16-4acabd47036d phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000574 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:7c16fed3-1039-4f7f-bdcf-59cf880f8163 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0005469 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:00837342-29c6-4a67-9ab1-c27089650259 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000687 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:3aadc3c3-df8e-43ef-9b2a-a4cd60b533e6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0009902 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:eb3cb31b-23ce-4d7e-8ec6-3bb1e08a45c7 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0012471 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2392d357-1a60-4875-b8ff-def9c672d294 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0005280 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:fa02903a-2d02-4b45-9978-15354e141068 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000286 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2538961f-a23d-4fff-b26d-dc2a56ed7e2f phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000319 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:efdc5db6-5c55-4b33-92a1-d17e5032cf79 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000303 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:2ebebf8f-d696-44d2-b5b4-61cd1efe09ca phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000414 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:de46c18b-a511-4c28-bf83-4b2c6f379444 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000219 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:6574e1fb-2f09-40dc-88c3-400185c7eaaa phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0002714 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:b14a03e2-3a24-4096-afd4-da68017535f6 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000582 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:549a90bd-1fb7-4fb0-b0cc-9897b3c7ef62 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0001382 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:c3219a86-07c5-441a-b9d9-f44ed1cace3e phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_phenotype HP:0000059 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:29198722 uuid:cb9c3db8-afdc-4948-8e19-9b97c1275bfe phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_disease OMIM:617865 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:2ac3fb82-589d-4476-868d-c4cea934b818 phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:29198722 uuid:9edd9089-737b-40d7-99b8-bb53558fc3e5 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:be32392a-9a1b-4864-921d-0d89e1458eae phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0010559 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:92b9c3b9-2580-438f-829d-20b6812f6faf phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0002690 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:d7f6c759-5f7a-4395-8bd7-aba5539d090b phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000506 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:e9f9f987-33b7-4ad1-982d-182b76aa4616 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0100629 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:c1279387-b725-4a65-ba9c-d7728b84beb4 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000175 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:77f48a1f-102e-49e0-a6c8-ae9ba52223c1 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:bd8c10bc-bb72-4980-8166-bc3577c939da phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:8e35c98c-fb6a-4c59-8a0f-924fcffe8c87 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:dfceab22-19e1-460f-9705-e261d95dd239 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000501 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:6cb0d1fb-7f1a-4928-9da7-6a3f9dc56eeb phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0001263 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:900fa91a-05d0-4377-a59f-b380ab088a04 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0005462 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:b268a0c1-7694-4e4a-9b3a-d0df1e2ea329 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0040075 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:a6df9642-fc67-48ae-a9ab-87fb26aafd1d phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0032466 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:d9be6c61-0e9f-4629-a7e2-686b7d3dedc0 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0001274 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:565bf16f-f9cc-48b7-8a2a-355b708def45 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0002119 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:0d098f51-dffb-482e-973a-3839bbd6708c phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0002190 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:31e16542-1992-427d-9458-2358a9e52e0a phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0002079 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:3a58cecc-eed9-4dc7-9b11-95d23cea36de phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:dc1c62c8-1b3e-4f6a-b73e-41386d44918f phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000028 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:20b05878-ae8f-4e86-be11-0557494d0e1a phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0003065 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:2fcf564d-51a4-43d0-b24f-7885e095150d phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0001841 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:55302d4d-c24b-4eeb-830c-58702675371f phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0005736 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:25105228 uuid:8ea1685d-8595-49b1-9121-8030655c8e5f phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:bde90360-52a3-4594-9742-04a3f0703cb1 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:79e1129e-aa56-47a1-957e-d2ea252082bc phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0011819 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:ac1eb5e3-0909-4b23-a675-262e188d6943 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000545 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:2479e37e-6935-4330-a83e-b34ad54fcab4 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0007968 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:67b5936c-9520-4b63-b31f-aa6d48863df4 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0000609 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:cd446243-ff4c-447a-88c7-da549a826bff phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0006951 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:bc6b8993-7e86-41f2-854c-0f16f54b6204 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0032388 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:8b5ea37b-bfe2-4ab6-a204-0cfe2ee91bdc phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0001331 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:2473c57e-e962-466d-9d38-a1e3104854e3 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0001177 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:ae3c3173-306f-4949-9bb0-6920a9102b61 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_phenotype HP:0012520 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:25105228 uuid:2b227881-781e-4818-a703-ed52138c1b80 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:f36a0e90-e1e4-4237-98da-24522a8622d1 phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:25105228 uuid:5e6c5325-e54b-406d-96a8-0a279cc27e93 phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0011803 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:0c123f5f-44a9-43b9-9c72-d6fa1eb3ca8c phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0000431 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:c80b8656-09aa-41bc-8ebe-d81217d91090 phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0000494 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:ef1f6af8-c000-4861-af81-ab46a2c8a7dc phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0000316 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:8a346ceb-69cf-41e4-88e6-0b7f6cb89ded phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0001762 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation False infores:phenopacket-store PMID:26706854 uuid:24434e45-d5ff-4a84-9cd1-6affba432fab phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0000369 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:00367c89-c440-4747-9a01-c9be20186a3f phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0002084 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:c6afeb0f-3678-4ce3-9d7c-154fbc88d446 phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0010806 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:84669ea9-880f-4d23-a022-5f56eba061d5 phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0000508 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:a499a9be-9b47-4ade-bedc-ca91ef741c8a phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0002697 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:22f5a9ed-687f-488c-af6a-e37b9ea5edb9 phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_phenotype HP:0006866 biolink:CaseToPhenotypicFeatureAssociation manual_agent observation True infores:phenopacket-store PMID:26706854 uuid:71b9a878-76b9-4888-bb32-06142c185cfe phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_disease OMIM:603671 biolink:CaseToDiseaseAssociation manual_agent observation infores:phenopacket-store PMID:26706854 uuid:ceb9360a-2340-4d4c-ba7a-ff0a71243e8b phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:has_gene HGNC:29316 biolink:CaseToGeneAssociation manual_agent observation infores:phenopacket-store PMID:26706854